#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_refseq_mrna_id	i_secondary_variant_classification
ITGA8	8516	broad.mit.edu	37	10	15658555	15658555	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:15658555delA	ENST00000378076.3	-	14	1756	c.1403delT	c.(1402-1404)ttgfs	p.L468fs		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	468					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.L468fs*1(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCCACAATCAAATCTTAAAA	0.338																																					p.L468X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1403delT	10						.						105.0	94.0	97.0					10																	15658555		2203	4300	6503	15698561	SO:0001589	frameshift_variant	8516	exon14			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1403delT	10.37:g.15658555delA	ENSP00000367316:p.Leu468fs	Somatic		Capture	Illumina HiSeq	Phase_I	15698561	NM_003638	B0YJ31|Q5VX94	Frame_Shift_Del	DEL	ENST00000378076.3	37	CCDS31155.1																																																																																				0.338	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
ADK	132	broad.mit.edu	37	10	76285017	76285017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:76285017delT	ENST00000286621.2	+	7	609	c.559delT	c.(559-561)tttfs	p.F188fs	RP11-46O21.2_ENST00000609392.1_RNA|ADK_ENST00000372734.3_Frame_Shift_Del_p.F171fs|RP11-46O21.2_ENST00000595410.1_RNA|ADK_ENST00000539909.1_Intron|RP11-46O21.2_ENST00000448214.3_RNA|ADK_ENST00000541550.1_Frame_Shift_Del_p.F153fs	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	188					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)	p.T190fs*8(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	CATCCAGGGCTTTTTTCTTAC	0.358																																					p.F170fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.508delT	10						.		,,,	8,4256		4,0,2128	100.0	104.0	103.0		,,,	-0.7	1.0	10		102	10,8244		4,2,4121	no	frameshift,intron,frameshift,frameshift	ADK	NM_006721.3,NM_001202450.1,NM_001202449.1,NM_001123.3	,,,	8,2,6249	A1A1,A1R,RR		0.1212,0.1876,0.1438	,,,	,,,	76285017	18,12500	2203	4300	6503	75955023	SO:0001589	frameshift_variant	132	exon7			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.559delT	10.37:g.76285017delT	ENSP00000286621:p.Phe188fs	Somatic		Capture	Illumina HiSeq	Phase_I	75955023	NM_001123	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Frame_Shift_Del	DEL	ENST00000286621.2	37	CCDS7343.1																																																																																				0.358	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721	
HPSE2	60495	broad.mit.edu	37	10	100481571	100481571	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:100481571G>A	ENST00000370552.3	-	5	858	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	HPSE2_ENST00000404542.1_Missense_Mutation_p.R155W|HPSE2_ENST00000370549.1_Missense_Mutation_p.R209W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R267W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	267					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.R267W(4)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGCATGGTCCGATAGTTATTT	0.473																																					p.R209W												.	.	4	Substitution - Missense(4)	large_intestine(2)|NS(2)	c.C625T	10						.						77.0	68.0	71.0					10																	100481571		2203	4300	6503	100471561	SO:0001583	missense	60495	exon4			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.799C>T	10.37:g.100481571G>A	ENSP00000359583:p.Arg267Trp	Somatic		Capture	Illumina HiSeq	Phase_I	100471561	NM_001166244	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370845	0.82573	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.45668	0.89;0.92;1.46;0.9	5.44	5.44	0.79542	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.38531	1.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.989;0.997;0.998	T	0.57929	-0.7726	10	0.59425	D	0.04	-9.5594	19.6357	0.95731	0.0:0.0:1.0:0.0	.	155;267;209;267	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	W	267;209;267;155	ENSP00000359583:R267W;ENSP00000359580:R209W;ENSP00000359577:R267W;ENSP00000384384:R155W	ENSP00000359577:R267W	R	-	1	2	HPSE2	100471561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.016000	0.76393	2.706000	0.92434	0.551000	0.68910	CGG		0.473	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
CNNM1	26507	broad.mit.edu	37	10	101090307	101090307	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101090307T>C	ENST00000356713.4	+	1	1452	c.1163T>C	c.(1162-1164)aTa>aCa	p.I388T	CNNM1_ENST00000370534.4_Missense_Mutation_p.I23T|CNNM1_ENST00000370528.3_Missense_Mutation_p.I317T|CNNM1_ENST00000446890.1_Missense_Mutation_p.I317T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	388	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.I23T(1)|p.I388T(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCCAGGAGATAAGCACCTTC	0.652																																					p.I388T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1163C	10						.						22.0	19.0	20.0					10																	101090307		2202	4296	6498	101080297	SO:0001583	missense	26507	exon1			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1163T>C	10.37:g.101090307T>C	ENSP00000349147:p.Ile388Thr	Somatic		Capture	Illumina HiSeq	Phase_I	101080297	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809574	0.50421	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;T	0.87650	-2.28;-2.28;-2.28;-0.72	4.67	4.67	0.58626	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.87470	0.6185	L	0.60957	1.885	0.80722	D	1	B;P;B;B	0.36633	0.012;0.562;0.137;0.425	B;B;B;B	0.44044	0.037;0.439;0.094;0.237	D	0.87064	0.2155	10	0.42905	T	0.14	-21.3671	13.9394	0.64046	0.0:0.0:0.0:1.0	.	23;388;23;388	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	T	388;317;317;23	ENSP00000349147:I388T;ENSP00000406492:I317T;ENSP00000359559:I317T;ENSP00000359565:I23T	ENSP00000349147:I388T	I	+	2	0	CNNM1	101080297	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.858000	0.86971	1.963000	0.57068	0.379000	0.24179	ATA		0.652	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
GOT1	2805	broad.mit.edu	37	10	101157386	101157386	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101157386C>T	ENST00000370508.5	-	9	1187	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	GOT1_ENST00000543866.1_Missense_Mutation_p.R366Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	387					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.R387Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CACGTTGATTCGACCACTTGG	0.468																																					p.R387Q	Melanoma(173;770 3544 21601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	10						.						247.0	202.0	217.0					10																	101157386		2203	4300	6503	101147376	SO:0001583	missense	2805	exon9			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1160G>A	10.37:g.101157386C>T	ENSP00000359539:p.Arg387Gln	Somatic		Capture	Illumina HiSeq	Phase_I	101147376	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620527	0.96660	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.98234	-4.81;-4.81	4.86	4.86	0.63082	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99013	1.0815	10	0.87932	D	0	-20.1833	18.5393	0.91022	0.0:1.0:0.0:0.0	.	387	P17174	AATC_HUMAN	Q	387;340;366	ENSP00000359539:R387Q;ENSP00000445578:R366Q	ENSP00000359539:R387Q	R	-	2	0	GOT1	101147376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.534000	0.82004	2.676000	0.91093	0.655000	0.94253	CGA		0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
GOT1	2805	broad.mit.edu	37	10	101165896	101165896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101165896C>T	ENST00000370508.5	-	4	562	c.535G>A	c.(535-537)Gag>Aag	p.E179K	GOT1_ENST00000543866.1_Missense_Mutation_p.E158K	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	179					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E179K(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TCACCCACCTCCAGATCATTC	0.478																																					p.E179K	Melanoma(173;770 3544 21601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535A	10						.						139.0	143.0	141.0					10																	101165896		2203	4300	6503	101155886	SO:0001583	missense	2805	exon4			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.535G>A	10.37:g.101165896C>T	ENSP00000359539:p.Glu179Lys	Somatic		Capture	Illumina HiSeq	Phase_I	101155886	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.648025	0.47258	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.22743	1.94;1.94	6.03	6.03	0.97812	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.093835	0.64402	D	0.000001	T	0.14917	0.0360	N	0.17379	0.485	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13575	-1.0504	10	0.07813	T	0.8	-10.9776	20.5605	0.99326	0.0:1.0:0.0:0.0	.	179	P17174	AATC_HUMAN	K	179;132;158	ENSP00000359539:E179K;ENSP00000445578:E158K	ENSP00000359539:E179K	E	-	1	0	GOT1	101155886	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.080000	0.71299	2.868000	0.98415	0.637000	0.83480	GAG		0.478	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
ABCC2	1244	broad.mit.edu	37	10	101567189	101567189	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101567189A>C	ENST00000370449.4	+	12	1692	c.1579A>C	c.(1579-1581)Aac>Cac	p.N527H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	527	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.N527H(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCAAGTACAAAACCTCCGGAA	0.433																																					p.N527H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1579C	10						.						153.0	155.0	155.0					10																	101567189		2203	4300	6503	101557179	SO:0001583	missense	1244	exon12			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1579A>C	10.37:g.101567189A>C	ENSP00000359478:p.Asn527His	Somatic		Capture	Illumina HiSeq	Phase_I	101557179	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	6.873	0.530484	0.13127	.	.	ENSG00000023839	ENST00000370449	D	0.89681	-2.55	5.31	-1.03	0.10102	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.974465	0.08477	N	0.940114	T	0.81380	0.4810	N	0.21324	0.655	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.67730	-0.5595	10	0.62326	D	0.03	-14.6141	10.2338	0.43270	0.6326:0.0:0.3674:0.0	.	527	Q92887	MRP2_HUMAN	H	527	ENSP00000359478:N527H	ENSP00000359478:N527H	N	+	1	0	ABCC2	101557179	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	0.623000	0.24447	-0.336000	0.08438	0.459000	0.35465	AAC		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
ABCC2	1244	broad.mit.edu	37	10	101590552	101590552	+	Missense_Mutation	SNP	G	G	A	rs574920702		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101590552G>A	ENST00000370449.4	+	21	2940	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.E943K(2)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAAGGAAGACGAAGAACTAGT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20353	0.0		0.0	False		,,,				2504	0.0				p.E943K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2827A	10						.						90.0	88.0	88.0					10																	101590552		2203	4300	6503	101580542	SO:0001583	missense	1244	exon21			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2827G>A	10.37:g.101590552G>A	ENSP00000359478:p.Glu943Lys	Somatic		Capture	Illumina HiSeq	Phase_I	101580542	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025443	0.35701	.	.	ENSG00000023839	ENST00000370449	D	0.89485	-2.52	5.95	-1.85	0.07784	ABC transporter, transmembrane domain, type 1 (1);	0.770165	0.12916	N	0.428583	T	0.74935	0.3782	N	0.26130	0.795	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.59225	-0.7494	10	0.06236	T	0.91	-3.0606	6.9095	0.24327	0.3955:0.2817:0.3228:0.0	.	943	Q92887	MRP2_HUMAN	K	943	ENSP00000359478:E943K	ENSP00000359478:E943K	E	+	1	0	ABCC2	101580542	0.003000	0.15002	0.000000	0.03702	0.348000	0.29142	0.531000	0.23052	-0.127000	0.11661	0.561000	0.74099	GAA		0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
DNMBP	23268	broad.mit.edu	37	10	101643936	101643936	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101643936G>A	ENST00000324109.4	-	15	3920	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W	DNMBP_ENST00000540316.1_Missense_Mutation_p.R213W|DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.R523W|DNMBP_ENST00000342239.3_Missense_Mutation_p.R1301W	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1277					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1277W(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGAGGCCCGGAGTTCTTCT	0.488																																					p.R1277W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3829T	10						.						74.0	82.0	80.0					10																	101643936		2203	4300	6503	101633926	SO:0001583	missense	23268	exon15			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3829C>T	10.37:g.101643936G>A	ENSP00000315659:p.Arg1277Trp	Somatic		Capture	Illumina HiSeq	Phase_I	101633926	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218952	0.79464	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.95	4.07	0.47477	Src homology-3 domain (1);	0.180276	0.27375	N	0.019651	T	0.78110	0.4232	M	0.84683	2.71	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.81411	-0.0945	10	0.66056	D	0.02	-12.8979	15.0413	0.71793	0.0:0.0:0.7398:0.2602	.	1277;523;1301	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	W	1301;1277;523;523;213	ENSP00000344914:R1301W;ENSP00000315659:R1277W;ENSP00000443657:R523W;ENSP00000443573:R213W	ENSP00000315659:R1277W	R	-	1	2	DNMBP	101633926	1.000000	0.71417	0.148000	0.22405	0.996000	0.88848	4.722000	0.61958	0.819000	0.34492	0.655000	0.94253	CGG		0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
DNMBP	23268	broad.mit.edu	37	10	101716911	101716911	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101716911C>T	ENST00000324109.4	-	4	411	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.R107Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	107	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R107Q(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCAGCAGCTTCGGCCCTGCAG	0.602																																					p.R107Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	10						.						22.0	23.0	22.0					10																	101716911		2203	4300	6503	101706901	SO:0001583	missense	23268	exon4			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.320G>A	10.37:g.101716911C>T	ENSP00000315659:p.Arg107Gln	Somatic		Capture	Illumina HiSeq	Phase_I	101706901	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816756	0.90790	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.34275	1.37;1.37	5.46	5.46	0.80206	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.41712	D	0.000830	T	0.52901	0.1763	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.40683	-0.9550	10	0.34782	T	0.22	-9.6987	14.8593	0.70366	0.0:0.9292:0.0:0.0708	.	107	Q6XZF7	DNMBP_HUMAN	Q	107	ENSP00000344914:R107Q;ENSP00000315659:R107Q	ENSP00000315659:R107Q	R	-	2	0	DNMBP	101706901	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.080000	0.50112	2.719000	0.93026	0.555000	0.69702	CGA		0.602	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
CHUK	1147	broad.mit.edu	37	10	101959770	101959770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101959770G>A	ENST00000370397.7	-	16	1773	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	563					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.R563C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCAATGGCACGCTGTTCCCTA	0.343																																					p.R563C	Ovarian(159;52 1904 10536 35305 37148)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1687T	10						.						179.0	177.0	178.0					10																	101959770		2203	4300	6503	101949760	SO:0001583	missense	1147	exon16			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1687C>T	10.37:g.101959770G>A	ENSP00000359424:p.Arg563Cys	Somatic		Capture	Illumina HiSeq	Phase_I	101949760	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842801	0.71488	.	.	ENSG00000213341	ENST00000370397	T	0.24151	1.87	5.13	4.15	0.48705	.	0.280952	0.37906	N	0.001888	T	0.24812	0.0602	L	0.40543	1.245	0.51767	D	0.999932	D	0.67145	0.996	P	0.47528	0.549	T	0.00981	-1.1492	10	0.49607	T	0.09	-4.0918	9.6564	0.39928	0.0:0.0:0.6492:0.3508	.	563	O15111	IKKA_HUMAN	C	563	ENSP00000359424:R563C	ENSP00000359424:R563C	R	-	1	0	CHUK	101949760	0.991000	0.36638	1.000000	0.80357	0.864000	0.49448	4.739000	0.62080	2.413000	0.81919	0.558000	0.71614	CGT		0.343	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
CHUK	1147	broad.mit.edu	37	10	101978815	101978815	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101978815T>G	ENST00000370397.7	-	7	725	c.639A>C	c.(637-639)gaA>gaC	p.E213D		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.E213D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CAGCAATACATTCAAATACCA	0.398																																					p.E213D	Ovarian(159;52 1904 10536 35305 37148)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A639C	10						.						97.0	94.0	95.0					10																	101978815		2203	4300	6503	101968805	SO:0001583	missense	1147	exon7			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.639A>C	10.37:g.101978815T>G	ENSP00000359424:p.Glu213Asp	Somatic		Capture	Illumina HiSeq	Phase_I	101968805	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134451	0.77662	.	.	ENSG00000213341	ENST00000370397	T	0.37058	1.22	5.99	-0.834	0.10779	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046715	0.85682	N	0.000000	T	0.59224	0.2178	M	0.91459	3.21	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.56974	-0.7890	10	0.62326	D	0.03	-18.9608	6.4448	0.21869	0.0:0.3953:0.1382:0.4665	.	213	O15111	IKKA_HUMAN	D	213	ENSP00000359424:E213D	ENSP00000359424:E213D	E	-	3	2	CHUK	101968805	0.990000	0.36364	0.991000	0.47740	0.994000	0.84299	0.205000	0.17356	-0.377000	0.07930	0.533000	0.62120	GAA		0.398	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
CWF19L1	55280	broad.mit.edu	37	10	101997810	101997810	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:101997810C>A	ENST00000354105.4	-	11	1309	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R163I	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	408							catalytic activity (GO:0003824)	p.R408I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTTATAATTTCTCTCAAATAC	0.438																																					p.R408I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223T	10						.						124.0	116.0	119.0					10																	101997810		2203	4300	6503	101987800	SO:0001583	missense	55280	exon11			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1223G>T	10.37:g.101997810C>A	ENSP00000326411:p.Arg408Ile	Somatic		Capture	Illumina HiSeq	Phase_I	101987800	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847040	0.91277	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.26660	2.19;1.72	5.57	5.57	0.84162	Histidine triad motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.997	D;D;D	0.97110	0.909;1.0;0.971	T	0.10706	-1.0618	10	0.15066	T	0.55	-17.3637	17.0478	0.86509	0.0:1.0:0.0:0.0	.	112;271;408	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	I	408;163	ENSP00000326411:R408I;ENSP00000359405:R163I	ENSP00000326411:R408I	R	-	2	0	CWF19L1	101987800	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.434000	0.80377	2.632000	0.89209	0.650000	0.86243	AGA		0.438	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	
PKD2L1	9033	broad.mit.edu	37	10	102051171	102051171	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102051171C>T	ENST00000318222.3	-	12	2276	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E632K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E557K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	632					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E632K(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ATTTCATGCTCTGCGTGTCCC	0.483																																					p.E632K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1894A	10						.						148.0	122.0	131.0					10																	102051171		2203	4300	6503	102041161	SO:0001583	missense	9033	exon12			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1894G>A	10.37:g.102051171C>T	ENSP00000325296:p.Glu632Lys	Somatic		Capture	Illumina HiSeq	Phase_I	102041161	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847632	0.71603	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.61980	0.27;0.06;0.09	5.82	4.91	0.64330	EF-hand-like domain (1);	0.203735	0.49916	D	0.000126	T	0.53530	0.1802	L	0.43152	1.355	0.51767	D	0.999938	B;B	0.17268	0.016;0.021	B;B	0.17722	0.015;0.019	T	0.46261	-0.9204	10	0.25106	T	0.35	-22.2342	14.3032	0.66368	0.0:0.928:0.0:0.072	.	585;632	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	557;632;632;630	ENSP00000345068:E557K;ENSP00000266049:E632K;ENSP00000325296:E632K	ENSP00000325296:E632K	E	-	1	0	PKD2L1	102041161	1.000000	0.71417	0.945000	0.38365	0.927000	0.56198	4.892000	0.63193	2.760000	0.94817	0.655000	0.94253	GAG		0.483	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
PAX2	5076	broad.mit.edu	37	10	102509546	102509546	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102509546C>T	ENST00000428433.1	+	2	637	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PAX2_ENST00000355243.3_Silent_p.N29N|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Silent_p.N29N|PAX2_ENST00000370296.2_Silent_p.N29N|PAX2_ENST00000556085.1_Silent_p.N28N	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	29	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.N29N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGTTTGTGAACGGCCGGCCCC	0.657																																					p.N29N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87T	10						.						29.0	35.0	33.0					10																	102509546		2196	4293	6489	102499536	SO:0001819	synonymous_variant	5076	exon2				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.87C>T	10.37:g.102509546C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102499536	NM_003988	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	CCDS53569.1																																																																																				0.657	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
FAM178A	55719	broad.mit.edu	37	10	102677022	102677022	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102677022G>T	ENST00000238961.4	+	3	1422	c.880G>T	c.(880-882)Gac>Tac	p.D294Y	FAM178A_ENST00000370271.3_Missense_Mutation_p.D294Y|FAM178A_ENST00000370269.3_Missense_Mutation_p.D294Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	294						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D294Y(1)									GAAACAGAATGACATCATACC	0.308																																					p.D294Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880T	10						.						50.0	55.0	53.0					10																	102677022		2203	4300	6503	102667012	SO:0001583	missense	55719	exon3			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.880G>T	10.37:g.102677022G>T	ENSP00000238961:p.Asp294Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	102667012	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233501	0.22626	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.52295	0.67;1.32;1.31	5.18	3.06	0.35304	.	0.245572	0.29273	N	0.012636	T	0.41373	0.1156	N	0.19112	0.55	0.25790	N	0.984625	P;D;D	0.63880	0.946;0.969;0.993	P;P;P	0.59487	0.735;0.735;0.858	T	0.15925	-1.0420	10	0.49607	T	0.09	-8.4213	3.1685	0.06544	0.1743:0.0:0.58:0.2457	.	294;294;294	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	Y	294	ENSP00000359294:D294Y;ENSP00000238961:D294Y;ENSP00000359292:D294Y	ENSP00000238961:D294Y	D	+	1	0	FAM178A	102667012	0.995000	0.38212	0.996000	0.52242	0.078000	0.17371	2.108000	0.41854	1.287000	0.44583	0.585000	0.79938	GAC		0.308	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
FAM178A	55719	broad.mit.edu	37	10	102684237	102684237	+	Missense_Mutation	SNP	T	T	G	rs145161868		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102684237T>G	ENST00000238961.4	+	5	2021	c.1479T>G	c.(1477-1479)aaT>aaG	p.N493K	FAM178A_ENST00000370271.3_Missense_Mutation_p.N493K|FAM178A_ENST00000370269.3_Missense_Mutation_p.N493K	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	493						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.N493K(1)									ATGCTAAAAATTGTGCTCTTC	0.408																																					p.N493K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1479G	10						.						70.0	75.0	73.0					10																	102684237		2203	4300	6503	102674227	SO:0001583	missense	55719	exon5			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1479T>G	10.37:g.102684237T>G	ENSP00000238961:p.Asn493Lys	Somatic		Capture	Illumina HiSeq	Phase_I	102674227	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589814	0.28357	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53206	0.63;1.22;1.2	5.87	3.46	0.39613	.	0.422734	0.22850	N	0.054866	T	0.49695	0.1572	L	0.29908	0.895	0.32181	N	0.580344	B;P;P;D	0.71674	0.184;0.59;0.59;0.998	B;B;B;D	0.80764	0.131;0.261;0.261;0.994	T	0.55341	-0.8156	10	0.42905	T	0.14	-18.436	5.2813	0.15676	0.1554:0.0843:0.0:0.7603	.	142;493;493;493	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	K	493	ENSP00000359294:N493K;ENSP00000238961:N493K;ENSP00000359292:N493K	ENSP00000238961:N493K	N	+	3	2	FAM178A	102674227	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	1.375000	0.34295	1.049000	0.40321	0.528000	0.53228	AAT		0.408	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
SEMA4G	57715	broad.mit.edu	37	10	102738865	102738865	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102738865C>A	ENST00000370250.4	+	8	1193	c.820C>A	c.(820-822)Ctg>Atg	p.L274M	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L274M|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L274M|MRPL43_ENST00000318325.2_3'UTR|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L274M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCAGGGAGACCTGGGAGGGAA	0.587																																					p.L274M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820A	10						.						74.0	69.0	70.0					10																	102738865		2203	4300	6503	102728855	SO:0001583	missense	57715	exon8			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.820C>A	10.37:g.102738865C>A	ENSP00000359270:p.Leu274Met	Somatic		Capture	Illumina HiSeq	Phase_I	102728855	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	c	15.16	2.752447	0.49362	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.76	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.207799	0.43579	N	0.000549	T	0.07503	0.0189	N	0.11845	0.185	0.27490	N	0.952326	P;P;P	0.45957	0.869;0.771;0.566	P;P;B	0.51550	0.472;0.673;0.295	T	0.16988	-1.0384	10	0.19590	T	0.45	.	2.7294	0.05223	0.2546:0.4809:0.1237:0.1408	.	274;274;274	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	M	274	ENSP00000428896:L274M;ENSP00000359270:L274M;ENSP00000430175:L274M;ENSP00000210633:L274M	ENSP00000210633:L274M	L	+	1	2	SEMA4G	102728855	0.991000	0.36638	0.999000	0.59377	0.949000	0.60115	0.295000	0.19065	0.345000	0.23873	0.479000	0.44913	CTG		0.587	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
SEMA4G	57715	broad.mit.edu	37	10	102740964	102740964	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102740964C>A	ENST00000370250.4	+	13	2041	c.1668C>A	c.(1666-1668)ggC>ggA	p.G556G	SEMA4G_ENST00000210633.3_Silent_p.G561G|SEMA4G_ENST00000517724.1_Silent_p.G561G|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	556	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G561G(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GAAATCGAGGCTGTGAGAGCA	0.473																																					p.G561G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1683A	10						.						149.0	119.0	129.0					10																	102740964		2203	4300	6503	102730954	SO:0001819	synonymous_variant	57715	exon13			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1668C>A	10.37:g.102740964C>A		Somatic		Capture	Illumina HiSeq	Phase_I	102730954	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37																																																																																					0.473	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
C10orf2	56652	broad.mit.edu	37	10	102749489	102749489	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102749489C>T	ENST00000311916.2	+	2	1517	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000370228.1_Silent_p.F444F|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	444	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F444F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGGTAGCTTCGAGATCAGCA	0.552																																					p.F444F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332T	10						.						121.0	107.0	111.0					10																	102749489		2203	4300	6503	102739479	SO:0001819	synonymous_variant	56652	exon2			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1332C>T	10.37:g.102749489C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102739479	NM_021830	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	CCDS7506.1																																																																																				0.552	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	
PDZD7	79955	broad.mit.edu	37	10	102777925	102777925	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:102777925G>A	ENST00000370215.3	-	9	1678	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	485						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R485C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCTCTCTGCGCCCGTCCCGC	0.627																																					p.R485C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1453T	10						.						87.0	82.0	84.0					10																	102777925		2203	4300	6503	102767915	SO:0001583	missense	79955	exon9			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1453C>T	10.37:g.102777925G>A	ENSP00000359234:p.Arg485Cys	Somatic		Capture	Illumina HiSeq	Phase_I	102767915	NM_001195263	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	7.799	0.713190	0.15306	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11712	2.75	3.82	1.77	0.24775	.	4.135780	0.00424	N	0.000066	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24835	-1.0149	10	0.42905	T	0.14	.	7.0189	0.24902	0.0972:0.0:0.7339:0.1689	.	485;485	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	C	485	ENSP00000359234:R485C	ENSP00000359234:R485C	R	-	1	0	PDZD7	102767915	0.045000	0.20229	0.006000	0.13384	0.254000	0.26022	0.486000	0.22340	0.941000	0.37499	-0.263000	0.10527	CGC		0.627	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
POLL	27343	broad.mit.edu	37	10	103342589	103342589	+	Silent	SNP	G	G	A	rs41291484	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103342589G>A	ENST00000370162.3	-	7	1619	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	POLL_ENST00000370169.1_Silent_p.I375I|POLL_ENST00000370168.3_Silent_p.I48I|POLL_ENST00000370172.1_Silent_p.I287I|POLL_ENST00000299206.4_Silent_p.I375I|POLL_ENST00000456836.2_Silent_p.I112I|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000339310.3_Silent_p.I98I|POLL_ENST00000370158.3_Silent_p.I100I|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	375					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.I375I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCTTCAGGCCGATGGCCTGCT	0.567								DNA polymerases (catalytic subunits)					G|||	3	0.000599042	0.0	0.0029	5008	,	,		22845	0.0		0.001	False		,,,				2504	0.0				p.I283I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	10						.	G	,,	3,4403	6.2+/-15.9	0,3,2200	142.0	122.0	129.0		1125,849,1125	-9.5	0.7	10	dbSNP_127	129	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,13,6490	AA,AG,GG		0.1163,0.0681,0.1	,,	375/576,283/484,375/576	103342589	13,12993	2203	4300	6503	103332579	SO:0001819	synonymous_variant	27343	exon7			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1125C>T	10.37:g.103342589G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103332579	NM_001174085	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	CCDS7513.1																																																																																				0.567	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274	
NPM3	10360	broad.mit.edu	37	10	103543034	103543034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103543034G>T	ENST00000370110.5	-	1	136	c.114C>A	c.(112-114)ttC>ttA	p.F38L	MGEA5_ENST00000482611.1_5'Flank|NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	38					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.F38L(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TAATACCGAAGAAAAAACTGT	0.622																																					p.F38L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C114A	10						.						69.0	68.0	68.0					10																	103543034		2203	4300	6503	103533024	SO:0001583	missense	10360	exon1			AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.114C>A	10.37:g.103543034G>T	ENSP00000359128:p.Phe38Leu	Somatic		Capture	Illumina HiSeq	Phase_I	103533024	NM_006993	Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727516	0.15439	.	.	ENSG00000107833	ENST00000370110	T	0.30182	1.54	4.72	0.731	0.18277	Nucleoplasmin core (2);	0.132234	0.52532	D	0.000069	T	0.11750	0.0286	N	0.12569	0.235	0.31073	N	0.712786	B	0.14438	0.01	B	0.13407	0.009	T	0.38067	-0.9678	10	0.02654	T	1	-20.8019	7.0667	0.25156	0.39:0.0:0.61:0.0	.	38	O75607	NPM3_HUMAN	L	38	ENSP00000359128:F38L	ENSP00000359128:F38L	F	-	3	2	NPM3	103533024	0.970000	0.33590	1.000000	0.80357	0.943000	0.58893	-0.277000	0.08502	0.245000	0.21373	0.555000	0.69702	TTC		0.622	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993	
KCNIP2	30819	broad.mit.edu	37	10	103587701	103587701	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103587701G>A	ENST00000356640.2	-	8	922	c.647C>T	c.(646-648)aCg>aTg	p.T216M	KCNIP2_ENST00000370046.1_Missense_Mutation_p.T130M|KCNIP2_ENST00000358038.3_Missense_Mutation_p.T198M|KCNIP2_ENST00000348850.5_Missense_Mutation_p.T171M|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Missense_Mutation_p.T231M|KCNIP2_ENST00000353068.3_Missense_Mutation_p.T173M|KCNIP2_ENST00000343195.4_Missense_Mutation_p.T166M|KCNIP2_ENST00000355657.2_5'UTR	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	216					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)	p.T231M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TGCAGGGTACGTGTACTTGCC	0.562																																					p.T171M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	10						.						128.0	113.0	118.0					10																	103587701		2203	4300	6503	103577691	SO:0001583	missense	30819	exon6				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.647C>T	10.37:g.103587701G>A	ENSP00000349055:p.Thr216Met	Somatic		Capture	Illumina HiSeq	Phase_I	103577691	NM_173194	A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706602	0.68615	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;0.91;-0.3;-0.3;-0.3;-0.3	4.95	4.95	0.65309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	L	0.39326	1.205	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;P	0.81914	0.945;0.992;0.99;0.978;0.987;0.978;0.995;0.978;0.988;0.973;0.993;0.951;0.904	T	0.72852	-0.4167	10	0.33141	T	0.24	.	18.3765	0.90437	0.0:0.0:1.0:0.0	.	130;171;160;162;166;166;198;173;231;216;147;171;123	Q9NS61-9;B4DW99;B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	M	171;198;147;198;216;130;123;173;231;166;130	ENSP00000239118:T171M;ENSP00000350733:T198M;ENSP00000349055:T216M;ENSP00000359063:T130M;ENSP00000411679:T123M;ENSP00000341624:T173M;ENSP00000420040:T231M;ENSP00000344169:T166M;ENSP00000239117:T130M	ENSP00000239117:T130M	T	-	2	0	KCNIP2	103577691	1.000000	0.71417	0.950000	0.38849	0.817000	0.46193	9.657000	0.98554	2.571000	0.86741	0.561000	0.74099	ACG		0.562	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1		
C10orf76	79591	broad.mit.edu	37	10	103607300	103607300	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103607300G>T	ENST00000370033.4	-	26	2174	c.2055C>A	c.(2053-2055)ttC>ttA	p.F685L	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	685						integral component of membrane (GO:0016021)		p.F685L(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGATAGTGGAGAACTCCTTGA	0.597																																					p.F685L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2055A	10						.						111.0	119.0	116.0					10																	103607300		2003	4169	6172	103597290	SO:0001583	missense	79591	exon26			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.2055C>A	10.37:g.103607300G>T	ENSP00000359050:p.Phe685Leu	Somatic		Capture	Illumina HiSeq	Phase_I	103597290	NM_024541	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557569	0.45590	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.88	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.42245	1.32	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.30060	-0.9991	9	0.15499	T	0.54	-13.2904	12.4736	0.55801	0.1325:0.0:0.8675:0.0	.	685	Q5T2E6	CJ076_HUMAN	L	685	.	ENSP00000359050:F685L	F	-	3	2	C10orf76	103597290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.679000	0.54634	2.797000	0.96272	0.561000	0.74099	TTC		0.597	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	
C10orf76	79591	broad.mit.edu	37	10	103761789	103761789	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103761789C>T	ENST00000370033.4	-	15	1208	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	363						integral component of membrane (GO:0016021)		p.Q363Q(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GATTACTGGTCTGTACATCTG	0.408																																					p.Q363Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1089A	10						.						156.0	155.0	155.0					10																	103761789		1890	4110	6000	103751779	SO:0001819	synonymous_variant	79591	exon15			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1089G>A	10.37:g.103761789C>T		Somatic		Capture	Illumina HiSeq	Phase_I	103751779	NM_024541	Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	CCDS41563.1																																																																																				0.408	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	
PPRC1	23082	broad.mit.edu	37	10	103898411	103898411	+	Silent	SNP	G	G	A	rs9971147		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103898411G>A	ENST00000278070.2	+	3	417	c.378G>A	c.(376-378)tcG>tcA	p.S126S	PPRC1_ENST00000413464.2_Silent_p.S126S|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S126S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGAAGTGTCGCTGCTCACGG	0.502																																					p.S126S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G378A	10						.						112.0	101.0	104.0					10																	103898411		2203	4300	6503	103888401	SO:0001819	synonymous_variant	23082	exon3			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.378G>A	10.37:g.103898411G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103888401	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.502	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
PPRC1	23082	broad.mit.edu	37	10	103900553	103900553	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103900553G>A	ENST00000278070.2	+	5	2327	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	PPRC1_ENST00000413464.2_Missense_Mutation_p.R763H|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R763H(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGGCAGCAACGCCAAGCAGAA	0.547																																					p.R763H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2288A	10						.						117.0	129.0	125.0					10																	103900553		2203	4300	6503	103890543	SO:0001583	missense	23082	exon5			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2288G>A	10.37:g.103900553G>A	ENSP00000278070:p.Arg763His	Somatic		Capture	Illumina HiSeq	Phase_I	103890543	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324598	0.81580	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.41400	1.17;1.0	5.41	5.41	0.78517	.	0.498441	0.23130	N	0.051599	T	0.56426	0.1984	L	0.34521	1.04	0.47737	D	0.999501	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.53443	-0.8438	10	0.44086	T	0.13	.	19.5666	0.95395	0.0:0.0:1.0:0.0	.	763;643;763	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	H	763	ENSP00000278070:R763H;ENSP00000399743:R763H	ENSP00000278070:R763H	R	+	2	0	PPRC1	103890543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.997000	0.49457	2.704000	0.92352	0.561000	0.74099	CGC		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
NFKB2	4791	broad.mit.edu	37	10	104156056	104156056	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:104156056C>A	ENST00000369966.3	+	3	318	c.68C>A	c.(67-69)tCc>tAc	p.S23Y	NFKB2_ENST00000189444.6_Missense_Mutation_p.S23Y|NFKB2_ENST00000428099.1_Missense_Mutation_p.S23Y	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	23					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S23Y(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TTGAACTCCTCCATTGTGGAA	0.537			T	IGH@	B-NHL																																p.S23Y			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C68A	10						.						68.0	73.0	72.0					10																	104156056		1920	4129	6049	104146046	SO:0001583	missense	4791	exon3			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.68C>A	10.37:g.104156056C>A	ENSP00000358983:p.Ser23Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	104146046	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379477	0.42207	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.39997	1.05;1.05;1.05	4.84	3.93	0.45458	.	0.669254	0.14803	N	0.297500	T	0.25158	0.0611	N	0.19112	0.55	0.19300	N	0.999974	P;B;B	0.39282	0.666;0.087;0.075	B;B;B	0.33121	0.126;0.039;0.158	T	0.09907	-1.0653	10	0.62326	D	0.03	.	8.446	0.32843	0.2248:0.6295:0.1457:0.0	.	23;23;23	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	Y	23	ENSP00000410256:S23Y;ENSP00000358983:S23Y;ENSP00000189444:S23Y	ENSP00000189444:S23Y	S	+	2	0	NFKB2	104146046	0.133000	0.22466	0.827000	0.32855	0.704000	0.40688	2.530000	0.45641	1.164000	0.42652	0.561000	0.74099	TCC		0.537	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
CYP17A1	1586	broad.mit.edu	37	10	104597079	104597079	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:104597079A>G	ENST00000369887.3	-	1	211	c.40T>C	c.(40-42)Tat>Cat	p.Y14H	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	14					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.Y14H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CAAAACAAATAAGCTAGGGTA	0.597																																					p.Y14H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T40C	10						.						56.0	57.0	57.0					10																	104597079		2203	4300	6503	104587069	SO:0001583	missense	1586	exon1			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.40T>C	10.37:g.104597079A>G	ENSP00000358903:p.Tyr14His	Somatic		Capture	Illumina HiSeq	Phase_I	104587069	NM_000102	Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158387	0.57368	.	.	ENSG00000148795	ENST00000369887	T	0.71461	-0.57	5.37	5.37	0.77165	.	0.301240	0.33610	N	0.004727	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.65455	-0.6164	10	0.66056	D	0.02	.	13.8906	0.63736	1.0:0.0:0.0:0.0	.	14	P05093	CP17A_HUMAN	H	14	ENSP00000358903:Y14H	ENSP00000358903:Y14H	Y	-	1	0	CYP17A1	104587069	0.000000	0.05858	0.559000	0.28332	0.051000	0.14879	0.899000	0.28417	2.156000	0.67533	0.379000	0.24179	TAT		0.597	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102	
C10orf32-ASMT	100528007	broad.mit.edu	37	10	104620149	104620149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:104620149G>T	ENST00000299353.6	+	2	217	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	C10orf32_ENST00000369883.3_Missense_Mutation_p.D68Y|C10orf32_ENST00000339834.5_Missense_Mutation_p.D68Y					C10orf32-ASMT readthrough (NMD candidate)									p.D67Y(1)									GCACTCAGAAGATGTAAGAAA	0.368																																					p.D68Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202T	10						.						109.0	109.0	109.0					10																	104620149		2203	4300	6503	104610139	SO:0001583	missense	119032	exon2					10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316			49183	other	readthrough							Standard	NR_037644		Approved				OTTHUMG00000184175	ENST00000299353.6:c.202G>T	10.37:g.104620149G>T	ENSP00000299353:p.Asp68Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	104610139	NM_144591		Missense_Mutation	SNP	ENST00000299353.6	37	CCDS7542.2	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505138	0.44558	.	.	ENSG00000166275	ENST00000339834;ENST00000369883	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	U	0.000001	T	0.70815	0.3267	L	0.57536	1.79	0.80722	D	1	D	0.54964	0.969	P	0.53988	0.739	T	0.66945	-0.5795	9	0.33940	T	0.23	-18.7598	18.1474	0.89662	0.0:0.0:1.0:0.0	.	67	Q96B45	CJ032_HUMAN	Y	68	.	ENSP00000299353:D68Y	D	+	1	0	C10orf32	104610139	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	8.689000	0.91265	2.816000	0.96949	0.561000	0.74099	GAT		0.368	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000468206.2		
GTPBP4	23560	broad.mit.edu	37	10	1060223	1060223	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:1060223C>A	ENST00000360803.4	+	15	1661	c.1579C>A	c.(1579-1581)Ctt>Att	p.L527I	GTPBP4_ENST00000545048.1_Missense_Mutation_p.L480I|GTPBP4_ENST00000538293.1_Missense_Mutation_p.L411I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	527					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L527I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATGCGTAGTCTTGGTGTTGA	0.398																																					p.L527I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1579A	10						.						198.0	159.0	172.0					10																	1060223		2203	4300	6503	1050223	SO:0001583	missense	23560	exon15			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1579C>A	10.37:g.1060223C>A	ENSP00000354040:p.Leu527Ile	Somatic		Capture	Illumina HiSeq	Phase_I	1050223	NM_012341	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762694	0.69763	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.35048	1.35;1.33;1.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	M	0.67700	2.07	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.52170	-0.8611	10	0.37606	T	0.19	-19.937	19.2447	0.93898	0.0:1.0:0.0:0.0	.	527	Q9BZE4	NOG1_HUMAN	I	527;411;480	ENSP00000354040:L527I;ENSP00000444277:L411I;ENSP00000445473:L480I	ENSP00000354040:L527I	L	+	1	0	GTPBP4	1050223	1.000000	0.71417	0.959000	0.39883	0.314000	0.28054	7.132000	0.77251	2.640000	0.89533	0.650000	0.86243	CTT		0.398	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341	
NT5C2	22978	broad.mit.edu	37	10	104861043	104861043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:104861043G>A	ENST00000404739.3	-	5	453	c.430C>T	c.(430-432)Cga>Tga	p.R144*	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000343289.5_Nonsense_Mutation_p.R144*|NT5C2_ENST00000423468.2_Nonsense_Mutation_p.R115*			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	144					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.R144*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GTATCATCTCGCTGGATAAAT	0.294																																					p.R144X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C430T	10						.						75.0	80.0	78.0					10																	104861043		2202	4294	6496	104851033	SO:0001587	stop_gained	22978	exon6			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.430C>T	10.37:g.104861043G>A	ENSP00000383960:p.Arg144*	Somatic		Capture	Illumina HiSeq	Phase_I	104851033	NM_001134373	B7Z382|D3DR91|Q5JUV5	Nonsense_Mutation	SNP	ENST00000404739.3	37	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713094	0.68730	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	.	.	.	5.96	5.96	0.96718	.	0.118364	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-5.6698	13.3187	0.60421	0.0:0.0:0.7408:0.2592	.	.	.	.	X	144;144;115;152;75;100	.	ENSP00000339479:R144X	R	-	1	2	NT5C2	104851033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.065000	0.41442	2.832000	0.97577	0.655000	0.94253	CGA		0.294	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
PDCD11	22984	broad.mit.edu	37	10	105173749	105173749	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105173749C>A	ENST00000369797.3	+	10	1306	c.1212C>A	c.(1210-1212)aaC>aaA	p.N404K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	404	S1 motif 4. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.N404K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTCTAAGAACGTCTTCAATC	0.473																																					p.N404K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1212A	10						.						98.0	89.0	92.0					10																	105173749		2203	4300	6503	105163739	SO:0001583	missense	22984	exon10			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1212C>A	10.37:g.105173749C>A	ENSP00000358812:p.Asn404Lys	Somatic		Capture	Illumina HiSeq	Phase_I	105163739	NM_014976	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.032502	0.00406	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17213	2.29	5.64	-11.3	0.00108	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.558147	0.21253	N	0.077609	T	0.01421	0.0046	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41698	-0.9494	10	0.02654	T	1	-0.9283	1.0599	0.01598	0.3944:0.1706:0.2391:0.1959	.	404	Q14690	RRP5_HUMAN	K	404	ENSP00000358812:N404K	ENSP00000358812:N404K	N	+	3	2	PDCD11	105163739	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.889000	0.01614	-2.988000	0.00280	-1.134000	0.01955	AAC		0.473	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
NEURL1	9148	broad.mit.edu	37	10	105350119	105350119	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105350119G>A	ENST00000369780.4	+	6	2124	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.R555H	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		572					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R572H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAGACCTACCGCAGCTCCTAG	0.637																																					p.R572H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1715A	10						.						51.0	46.0	48.0					10																	105350119		2203	4300	6503	105340109	SO:0001583	missense	9148	exon6																														ENST00000369780.4:c.1715G>A	10.37:g.105350119G>A	ENSP00000358795:p.Arg572His	Somatic		Capture	Illumina HiSeq	Phase_I	105340109	NM_004210	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866834	0.97043	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80027	-0.1554	9	0.87932	D	0	-11.3638	20.1278	0.97990	0.0:0.0:1.0:0.0	.	572	O76050	NEU1A_HUMAN	H	572;555	.	ENSP00000358792:R555H	R	+	2	0	NEURL	105340109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.768000	0.95171	0.561000	0.74099	CGC		0.637	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1		
SH3PXD2A	9644	broad.mit.edu	37	10	105361585	105361585	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105361585C>T	ENST00000369774.4	-	15	3666	c.3390G>A	c.(3388-3390)gaG>gaA	p.E1130E	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.E997E|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.E965E|SH3PXD2A_ENST00000355946.2_Silent_p.E1102E			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1130	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.E1102E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGTTCTTTTTCTCAAGGTAGT	0.547																																					p.E1102E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3306A	10						.						119.0	132.0	128.0					10																	105361585		2203	4300	6503	105351575	SO:0001819	synonymous_variant	9644	exon14			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3390G>A	10.37:g.105361585C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105351575	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	C	3.234	-0.156885	0.06544	.	.	ENSG00000107957	ENST00000420222	T	0.32753	1.44	5.39	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02519	-1.1147	7	0.06365	T	0.9	-33.5762	12.6775	0.56903	0.0:0.8435:0.0:0.1565	.	.	.	.	K	1057	ENSP00000395781:E1057K	ENSP00000395781:E1057K	E	-	1	0	SH3PXD2A	105351575	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.277000	0.51654	1.279000	0.44446	0.561000	0.74099	GAA		0.547	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631	
SLK	9748	broad.mit.edu	37	10	105762222	105762222	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105762222A>C	ENST00000369755.3	+	9	1831	c.1286A>C	c.(1285-1287)aAg>aCg	p.K429T	SLK_ENST00000335753.4_Missense_Mutation_p.K429T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	429	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.K429T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAGAGGCCCAAGCTTGAAAAT	0.368																																					p.K429T	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1286C	10						.						109.0	121.0	117.0					10																	105762222		2203	4300	6503	105752212	SO:0001583	missense	9748	exon9				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1286A>C	10.37:g.105762222A>C	ENSP00000358770:p.Lys429Thr	Somatic		Capture	Illumina HiSeq	Phase_I	105752212	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	6.408	0.443470	0.12164	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69685	-0.41;-0.42	5.62	0.676	0.17958	Protein kinase-like domain (1);	0.669254	0.14790	N	0.298279	T	0.54532	0.1864	L	0.60455	1.87	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.29942	0.109;0.051	T	0.41592	-0.9500	10	0.23891	T	0.37	.	2.0614	0.03593	0.368:0.1136:0.3498:0.1686	.	429;429	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	429	ENSP00000336824:K429T;ENSP00000358770:K429T	ENSP00000336824:K429T	K	+	2	0	SLK	105752212	0.000000	0.05858	0.517000	0.27799	0.591000	0.36615	0.041000	0.13927	-0.121000	0.11787	0.454000	0.30748	AAG		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SLK	9748	broad.mit.edu	37	10	105781450	105781450	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105781450G>A	ENST00000369755.3	+	18	4065	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	SLK_ENST00000335753.4_Missense_Mutation_p.E1143K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1174					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E1174K(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACATAGCCAAGAATTAAAGGA	0.348																																					p.E1174K	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3520A	10						.						81.0	85.0	83.0					10																	105781450		2203	4300	6503	105771440	SO:0001583	missense	9748	exon18				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3520G>A	10.37:g.105781450G>A	ENSP00000358770:p.Glu1174Lys	Somatic		Capture	Illumina HiSeq	Phase_I	105771440	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429022	0.96131	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.71934	-0.61;-0.57	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	L	0.36672	1.1	0.80722	D	1	P;P	0.49358	0.923;0.874	P;P	0.56042	0.79;0.621	T	0.78365	-0.2232	10	0.87932	D	0	.	19.135	0.93424	0.0:0.0:1.0:0.0	.	1143;1174	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	1143;1174	ENSP00000336824:E1143K;ENSP00000358770:E1174K	ENSP00000336824:E1143K	E	+	1	0	SLK	105771440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.599000	0.87857	0.561000	0.74099	GAA		0.348	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
COL17A1	1308	broad.mit.edu	37	10	105809227	105809227	+	Missense_Mutation	SNP	C	C	T	rs532751897		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105809227C>T	ENST00000353479.5	-	29	2457	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	COL17A1_ENST00000369733.3_Missense_Mutation_p.E723K|MIR936_ENST00000401264.1_RNA	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	723	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E723K(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATGCCAGGCTCGCCTGCAAAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21494	0.001		0.0	False		,,,				2504	0.0				p.E723K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2167A	10						.						106.0	93.0	97.0					10																	105809227		2203	4300	6503	105799217	SO:0001583	missense	1308	exon29			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2167G>A	10.37:g.105809227C>T	ENSP00000340937:p.Glu723Lys	Somatic		Capture	Illumina HiSeq	Phase_I	105799217	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313590	0.60414	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93247	-3.19;-3.19	5.5	3.59	0.41128	.	0.139167	0.32190	N	0.006442	D	0.88012	0.6323	L	0.38175	1.15	0.80722	D	1	D	0.58268	0.982	B	0.42319	0.383	D	0.84877	0.0828	10	0.06494	T	0.89	-14.3222	15.6071	0.76682	0.0:0.7394:0.2606:0.0	.	723	Q9UMD9	COHA1_HUMAN	K	723	ENSP00000340937:E723K;ENSP00000358748:E723K	ENSP00000340937:E723K	E	-	1	0	COL17A1	105799217	0.997000	0.39634	0.996000	0.52242	0.642000	0.38348	4.024000	0.57218	0.649000	0.30751	-0.304000	0.09214	GAG		0.527	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
CFAP43	80217	broad.mit.edu	37	10	105938815	105938815	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105938815T>G	ENST00000278064.2	-	19	2550	c.2225A>C	c.(2224-2226)aAa>aCa	p.K742T	WDR96_ENST00000428666.1_Missense_Mutation_p.K812T|WDR96_ENST00000357060.3_Missense_Mutation_p.K811T														p.K811T(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GATTCCTTGTTTTATCTCTTT	0.308																																					p.K811T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2432C	10						.						127.0	126.0	126.0					10																	105938815		2202	4299	6501	105928805	SO:0001583	missense	80217	exon19																														ENST00000278064.2:c.2225A>C	10.37:g.105938815T>G	ENSP00000278064:p.Lys742Thr	Somatic		Capture	Illumina HiSeq	Phase_I	105928805	NM_025145		Missense_Mutation	SNP	ENST00000278064.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.80|13.80	2.345438|2.345438	0.41498|0.41498	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.15834|.	2.45;2.46;2.39|.	5.52|5.52	3.2|3.2	0.36748|0.36748	.|.	0.329323|.	0.24740|.	N|.	0.035997|.	T|T	0.46405|0.46405	0.1391|0.1391	M|M	0.66939|0.66939	2.045|2.045	0.25959|0.25959	N|N	0.982658|0.982658	B;D;P|.	0.61080|.	0.288;0.989;0.9|.	B;P;P|.	0.55923|.	0.188;0.787;0.65|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.29301|.	T|.	0.29|.	.|.	7.2745|7.2745	0.26275|0.26275	0.0:0.1627:0.0:0.8373|0.0:0.1627:0.0:0.8373	.|.	812;812;811|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	T|H	811;812;742|172	ENSP00000349568:K811T;ENSP00000400289:K812T;ENSP00000278064:K742T|.	ENSP00000278064:K742T|.	K|N	-|-	2|1	0|0	WDR96|WDR96	105928805|105928805	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.336000|0.336000	0.28762|0.28762	1.685000|1.685000	0.37659|0.37659	0.399000|0.399000	0.25367|0.25367	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.308	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
ITPRIP	85450	broad.mit.edu	37	10	106075177	106075177	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:106075177G>A	ENST00000337478.1	-	2	804	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ITPRIP_ENST00000278071.2_Silent_p.F211F|ITPRIP_ENST00000358187.2_Silent_p.F211F|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	211						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F211F(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGGGCACGAAAAGGTGGC	0.637																																					p.F211F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	10						.						64.0	67.0	66.0					10																	106075177		2203	4300	6503	106065167	SO:0001819	synonymous_variant	85450	exon3			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.633C>T	10.37:g.106075177G>A		Somatic		Capture	Illumina HiSeq	Phase_I	106065167	NM_033397	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	CCDS7557.1																																																																																				0.637	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397	
CFAP58	159686	broad.mit.edu	37	10	106209949	106209949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:106209949G>T	ENST00000369704.3	+	17	2631	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		833						extracellular space (GO:0005615)		p.E833*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACGTAAAGAACAACTTCA	0.333																																					p.E833X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2497T	10						.						71.0	73.0	73.0					10																	106209949		2203	4299	6502	106199939	SO:0001587	stop_gained	159686	exon17																														ENST00000369704.3:c.2497G>T	10.37:g.106209949G>T	ENSP00000358718:p.Glu833*	Somatic		Capture	Illumina HiSeq	Phase_I	106199939	NM_001008723	D3DRA6|Q8NA27	Nonsense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	40	8.453342	0.98817	.	.	ENSG00000120051	ENST00000369704	.	.	.	5.76	5.76	0.90799	.	0.223459	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.8194	19.9698	0.97280	0.0:0.0:1.0:0.0	.	.	.	.	X	833	.	ENSP00000358718:E833X	E	+	1	0	CCDC147	106199939	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	6.022000	0.70839	2.726000	0.93360	0.650000	0.86243	GAA		0.333	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
SORCS3	22986	broad.mit.edu	37	10	106982992	106982992	+	Silent	SNP	C	C	T	rs114303567	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:106982992C>T	ENST00000369701.3	+	20	3080	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	951					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)	p.F951F(1)		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)		TCTGGTGGTTCGGCAATAGCA	0.453													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18241	0.0		0.0	False		,,,				2504	0.0				p.F951F	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2853T	10						.	C		20,4386	27.2+/-55.0	0,20,2183	204.0	196.0	199.0		2853	-5.9	0.8	10	dbSNP_132	199	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SORCS3	NM_014978.1		0,21,6482	TT,TC,CC		0.0116,0.4539,0.1615		951/1223	106982992	21,12985	2203	4300	6503	106972982	SO:0001819	synonymous_variant	22986	exon20			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.2853C>T	10.37:g.106982992C>T		Somatic		Capture	Illumina HiSeq	Phase_I	106972982	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS3	22986	broad.mit.edu	37	10	107022143	107022143	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:107022143G>T	ENST00000369701.3	+	26	3725	c.3498G>T	c.(3496-3498)gaG>gaT	p.E1166D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1166					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)	p.E1166D(1)		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)		AGGAGCAGGAGATGATTGGGT	0.507																																					p.E1166D	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3498T	10						.						101.0	84.0	89.0					10																	107022143		2203	4300	6503	107012133	SO:0001583	missense	22986	exon26			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.3498G>T	10.37:g.107022143G>T	ENSP00000358715:p.Glu1166Asp	Somatic		Capture	Illumina HiSeq	Phase_I	107012133	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732097	0.69189	.	.	ENSG00000156395	ENST00000369701	T	0.28255	1.62	5.69	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	M	0.67397	2.05	0.40246	D	0.978013	D	0.76494	0.999	D	0.85130	0.997	T	0.39761	-0.9598	9	.	.	.	.	11.0647	0.47968	0.3292:0.0:0.6708:0.0	.	1166	Q9UPU3	SORC3_HUMAN	D	1166	ENSP00000358715:E1166D	.	E	+	3	2	SORCS3	107012133	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	1.630000	0.37081	0.081000	0.16988	-1.164000	0.01763	GAG		0.507	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS1	114815	broad.mit.edu	37	10	108469039	108469039	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:108469039A>C	ENST00000263054.6	-	7	1092	c.1085T>G	c.(1084-1086)tTt>tGt	p.F362C	SORCS1_ENST00000344440.6_Missense_Mutation_p.F362C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	362					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.F362C(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTAGCCTGGAAAAGGCTGATT	0.398																																					p.F362C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1085G	10						.						124.0	115.0	118.0					10																	108469039		2203	4300	6503	108459029	SO:0001583	missense	114815	exon7			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1085T>G	10.37:g.108469039A>C	ENSP00000263054:p.Phe362Cys	Somatic		Capture	Illumina HiSeq	Phase_I	108459029	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268105	0.80469	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.55234	0.53;0.53	5.71	5.71	0.89125	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.80422	2.495	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.76274	-0.3019	9	.	.	.	-21.5808	15.9924	0.80217	1.0:0.0:0.0:0.0	.	362;362;362;362;362	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	362	ENSP00000263054:F362C;ENSP00000345964:F362C	.	F	-	2	0	SORCS1	108459029	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.962000	0.93254	2.187000	0.69744	0.533000	0.62120	TTT		0.398	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SMC3	9126	broad.mit.edu	37	10	112359530	112359530	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:112359530G>T	ENST00000361804.4	+	21	2513	c.2387G>T	c.(2386-2388)aGa>aTa	p.R796I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	796					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.R796I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATCAGAAGAGAGTAGATGCA	0.428																																					p.R796I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387T	10						.						114.0	107.0	110.0					10																	112359530		2203	4300	6503	112349520	SO:0001583	missense	9126	exon21			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2387G>T	10.37:g.112359530G>T	ENSP00000354720:p.Arg796Ile	Somatic		Capture	Illumina HiSeq	Phase_I	112349520	NM_005445	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122899	0.77436	.	.	ENSG00000108055	ENST00000361804	T	0.76316	-1.01	5.56	5.56	0.83823	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.39898	1.24	0.80722	D	1	B	0.26002	0.139	B	0.28305	0.088	T	0.69091	-0.5237	10	0.40728	T	0.16	.	19.5373	0.95257	0.0:0.0:1.0:0.0	.	796	Q9UQE7	SMC3_HUMAN	I	796	ENSP00000354720:R796I	ENSP00000354720:R796I	R	+	2	0	SMC3	112349520	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.167000	0.94773	2.626000	0.88956	0.305000	0.20034	AGA		0.428	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
SHOC2	8036	broad.mit.edu	37	10	112767375	112767375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:112767375G>T	ENST00000369452.4	+	6	1593	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.K370N	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	416					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.K416N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGCTCACAAAGATCCCTGAGG	0.383																																					p.K416N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1248T	10						.						139.0	132.0	134.0					10																	112767375		2203	4300	6503	112757365	SO:0001583	missense	8036	exon6			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1248G>T	10.37:g.112767375G>T	ENSP00000358464:p.Lys416Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112757365	NM_007373	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426456	0.62733	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.17213	2.29;2.29;2.29	5.82	3.75	0.43078	.	0.040812	0.85682	D	0.000000	T	0.21387	0.0515	N	0.16130	0.375	0.58432	D	0.999998	D;D	0.61080	0.989;0.972	D;P	0.75020	0.985;0.635	T	0.04664	-1.0935	10	0.28530	T	0.3	.	11.3933	0.49827	0.2372:0.0:0.7628:0.0	.	370;416	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	N	370;416;206	ENSP00000265277:K370N;ENSP00000358464:K416N;ENSP00000408275:K206N	ENSP00000265277:K370N	K	+	3	2	SHOC2	112757365	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.382000	0.34374	1.468000	0.48064	0.655000	0.94253	AAG		0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
GPAM	57678	broad.mit.edu	37	10	113928244	113928244	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:113928244C>A	ENST00000348367.4	-	11	1130	c.933G>T	c.(931-933)gaG>gaT	p.E311D	GPAM_ENST00000423155.1_Missense_Mutation_p.E311D|GPAM_ENST00000369425.1_Missense_Mutation_p.E311D			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	311					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.E311D(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CCAGGAAGATCTCCAAGAATT	0.423																																					p.E311D	Ovarian(161;1017 2606 18293 52943)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G933T	10						.						113.0	107.0	109.0					10																	113928244		2203	4300	6503	113918234	SO:0001583	missense	57678	exon11			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.933G>T	10.37:g.113928244C>A	ENSP00000265276:p.Glu311Asp	Somatic		Capture	Illumina HiSeq	Phase_I	113918234	NM_020918	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406087	0.62288	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93307	-3.2;-3.2;-3.2	5.33	4.42	0.53409	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.76071	0.987;0.982	D	0.97108	0.9802	10	0.72032	D	0.01	-20.668	10.7027	0.45937	0.0:0.8541:0.0:0.1459	.	311;311	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	D	311	ENSP00000265276:E311D;ENSP00000409242:E311D;ENSP00000358433:E311D	ENSP00000265276:E311D	E	-	3	2	GPAM	113918234	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.071000	0.50041	2.506000	0.84524	0.637000	0.83480	GAG		0.423	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	
GPAM	57678	broad.mit.edu	37	10	113928640	113928640	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:113928640C>A	ENST00000348367.4	-	10	1062	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D289Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D289Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	289					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.D289Y(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TAGAGAACATCTTTCCGTCCA	0.398																																					p.D289Y	Ovarian(161;1017 2606 18293 52943)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865T	10						.						137.0	128.0	131.0					10																	113928640		2203	4300	6503	113918630	SO:0001583	missense	57678	exon10			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.865G>T	10.37:g.113928640C>A	ENSP00000265276:p.Asp289Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	113918630	NM_020918	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692412	0.88735	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.94138	-3.36;-3.36;-3.36	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98156	1.0444	10	0.87932	D	0	-26.4911	19.1646	0.93551	0.0:1.0:0.0:0.0	.	289;289	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	289	ENSP00000265276:D289Y;ENSP00000409242:D289Y;ENSP00000358433:D289Y	ENSP00000265276:D289Y	D	-	1	0	GPAM	113918630	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.199000	0.51043	2.620000	0.88729	0.643000	0.83706	GAT		0.398	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	
TECTB	6975	broad.mit.edu	37	10	114044301	114044301	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:114044301C>A	ENST00000369422.3	+	2	85	c.85C>A	c.(85-87)Ctt>Att	p.L29I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	29	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L29I(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		AGATGTCATTCTTGTGTTTTG	0.458																																					p.L29I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C85A	10						.						92.0	84.0	87.0					10																	114044301		2203	4300	6503	114034291	SO:0001583	missense	6975	exon2			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.85C>A	10.37:g.114044301C>A	ENSP00000358430:p.Leu29Ile	Somatic		Capture	Illumina HiSeq	Phase_I	114034291	NM_058222	Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368426	0.24771	.	.	ENSG00000119913	ENST00000369422	T	0.74209	-0.82	5.52	5.52	0.82312	Zona pellucida sperm-binding protein (1);	0.201648	0.51477	D	0.000091	T	0.50120	0.1597	N	0.03177	-0.4	0.42160	D	0.991596	B	0.14012	0.009	B	0.17722	0.019	T	0.49588	-0.8924	10	0.35671	T	0.21	.	9.0252	0.36224	0.1479:0.7781:0.0:0.0739	.	29	Q96PL2	TECTB_HUMAN	I	29	ENSP00000358430:L29I	ENSP00000358430:L29I	L	+	1	0	TECTB	114034291	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.616000	0.36933	2.760000	0.94817	0.655000	0.94253	CTT		0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222	
TCF7L2	6934	broad.mit.edu	37	10	114925318	114925318	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:114925318A>C	ENST00000355995.4	+	15	1954	c.1447A>C	c.(1447-1449)Aaa>Caa	p.K483Q	TCF7L2_ENST00000369397.4_Missense_Mutation_p.K460Q|TCF7L2_ENST00000369389.1_Missense_Mutation_p.E152D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.K466Q|TCF7L2_ENST00000538897.1_Missense_Mutation_p.E458D|TCF7L2_ENST00000545257.1_Missense_Mutation_p.K483Q|TCF7L2_ENST00000536810.1_Missense_Mutation_p.K466Q|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.E465D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.K199Q|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	483	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K466Q(1)|p.K460Q(1)|p.E465D(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTCTAGGAGAAAAAAAAAGTG	0.517			T	VTI1A	colorectal																																p.E431D			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1293C	10						.						95.0	103.0	100.0					10																	114925318		2203	4300	6503	114915308	SO:0001583	missense	6934	exon13			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1447A>C	10.37:g.114925318A>C	ENSP00000348274:p.Lys483Gln	Somatic		Capture	Illumina HiSeq	Phase_I	114915308	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.20|18.20	3.572332|3.572332	0.65765|0.65765	.|.	.|.	ENSG00000148737|ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389|ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695;ENST00000277945	D;D;D|D;D;D;D;D;D;D	0.99207|0.99704	-5.54;-5.52;-5.56|-6.44;-6.26;-5.39;-5.38;-6.46;-6.27;-6.02	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99594|0.99594	0.9853|0.9853	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|D;D;B;D;D;D;D	0.26547|0.89917	0.139;0.004;0.0;0.116;0.011;0.152;0.019|0.999;1.0;0.397;0.999;1.0;0.999;0.999	B;B;B;B;B;B;B|D;D;B;D;D;D;D	0.29785|0.91635	0.101;0.004;0.0;0.035;0.007;0.107;0.061|0.998;0.999;0.057;0.991;0.999;0.973;0.994	D|D	0.98126|0.98126	1.0428|1.0428	9|10	0.48119|0.52906	T|T	0.1|0.07	-28.9947|-28.9947	15.5612|15.5612	0.76249|0.76249	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	357;418;384;441;435;465;431|483;354;398;443;443;466;460	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10|Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	.;.;.;.;.;.;.|TF7L2_HUMAN;.;.;.;.;.;.	D|Q	465;458;152|483;483;466;466;460;199;183	ENSP00000347949:E465D;ENSP00000446172:E458D;ENSP00000358396:E152D|ENSP00000348274:K483Q;ENSP00000440547:K483Q;ENSP00000444972:K466Q;ENSP00000446238:K466Q;ENSP00000358404:K460Q;ENSP00000443883:K199Q;ENSP00000277945:K183Q	ENSP00000347949:E465D|ENSP00000277945:K183Q	E|K	+|+	3|1	2|0	TCF7L2|TCF7L2	114915308|114915308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.517	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
HABP2	3026	broad.mit.edu	37	10	115337802	115337802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:115337802C>T	ENST00000351270.3	+	6	562	c.466C>T	c.(466-468)Cca>Tca	p.P156S	HABP2_ENST00000537906.1_Silent_p.G144G|HABP2_ENST00000542051.1_Missense_Mutation_p.P130S|HABP2_ENST00000541666.1_Missense_Mutation_p.P156S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	156	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.P156S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TGTATGCAGGCCAAACCCCTG	0.547																																					p.P130S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	10						.						96.0	87.0	90.0					10																	115337802		2203	4300	6503	115327792	SO:0001583	missense	3026	exon6				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.466C>T	10.37:g.115337802C>T	ENSP00000277903:p.Pro156Ser	Somatic		Capture	Illumina HiSeq	Phase_I	115327792	NM_001177660	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609770	0.66558	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	T;T;T	0.53206	0.63;0.63;0.63	5.42	5.42	0.78866	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	N	0.04820	-0.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55198	-0.8178	10	0.32370	T	0.25	.	17.3986	0.87453	0.0:1.0:0.0:0.0	.	156	Q14520	HABP2_HUMAN	S	130;156;156	ENSP00000443283:P130S;ENSP00000277903:P156S;ENSP00000438373:P156S	ENSP00000277903:P156S	P	+	1	0	HABP2	115327792	0.998000	0.40836	1.000000	0.80357	0.821000	0.46438	4.326000	0.59241	2.550000	0.86006	0.563000	0.77884	CCA		0.547	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
TDRD1	56165	broad.mit.edu	37	10	115986982	115986982	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:115986982C>T	ENST00000251864.2	+	23	3480	c.3327C>T	c.(3325-3327)gtC>gtT	p.V1109V	TDRD1_ENST00000369281.2_Silent_p.V995V|TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1109					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.V1109V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGGGACTGTCGATGTAGCTG	0.353																																					p.V1109V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3327T	10						.						155.0	143.0	147.0					10																	115986982		2203	4300	6503	115976972	SO:0001819	synonymous_variant	56165	exon23			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3327C>T	10.37:g.115986982C>T		Somatic		Capture	Illumina HiSeq	Phase_I	115976972	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000251864.2	37	CCDS7588.1																																																																																				0.353	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
VWA2	340706	broad.mit.edu	37	10	116014784	116014784	+	Missense_Mutation	SNP	G	G	A	rs562799356	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:116014784G>A	ENST00000392982.3	+	4	488	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	VWA2_ENST00000603594.1_Missense_Mutation_p.G80S			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	80	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.G80S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTCTGTGACGGTCTGGACAT	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		20912	0.0		0.0	False		,,,				2504	0.0041				p.G80S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	10						.						195.0	168.0	177.0					10																	116014784		2203	4300	6503	116004774	SO:0001583	missense	340706	exon4			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.238G>A	10.37:g.116014784G>A	ENSP00000376708:p.Gly80Ser	Somatic		Capture	Illumina HiSeq	Phase_I	116004774	NM_198496	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	13.13	2.143793	0.37825	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.82255	-1.59	6.17	2.28	0.28536	von Willebrand factor, type A (3);	0.317510	0.33401	N	0.004952	T	0.54398	0.1856	N	0.02345	-0.59	0.18873	N	0.999981	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.42464	-0.9450	10	0.10636	T	0.68	.	5.5553	0.17113	0.2177:0.0:0.6435:0.1388	.	80;80	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	S	80	ENSP00000376708:G80S	ENSP00000298715:G80S	G	+	1	0	VWA2	116004774	1.000000	0.71417	0.079000	0.20413	0.957000	0.61999	3.508000	0.53378	0.173000	0.19788	0.655000	0.94253	GGT		0.532	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
FAM160B1	57700	broad.mit.edu	37	10	116590682	116590682	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:116590682G>T	ENST00000369248.4	+	2	452	c.117G>T	c.(115-117)gaG>gaT	p.E39D	FAM160B1_ENST00000369250.3_Missense_Mutation_p.E39D|FAM160B1_ENST00000369246.1_Missense_Mutation_p.E39D	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	39				E -> G (in Ref. 1; CAI45992). {ECO:0000305}.				p.E39D(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308																																					p.E39D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G117T	10						.						128.0	120.0	123.0					10																	116590682		2203	4297	6500	116580672	SO:0001583	missense	57700	exon2			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.117G>T	10.37:g.116590682G>T	ENSP00000358251:p.Glu39Asp	Somatic		Capture	Illumina HiSeq	Phase_I	116580672	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471528	0.26423	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.17054	2.33;2.3	4.7	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	L	0.38175	1.15	0.44402	D	0.997311	B;B	0.23442	0.085;0.04	B;B	0.27500	0.08;0.021	T	0.05954	-1.0854	10	0.07990	T	0.79	-17.2901	9.4508	0.38725	0.1756:0.0:0.8244:0.0	.	39;39	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	D	39	ENSP00000358251:E39D;ENSP00000358253:E39D	ENSP00000358249:E39D	E	+	3	2	FAM160B1	116580672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.503000	0.35715	0.938000	0.37419	0.462000	0.41574	GAG		0.308	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
PNLIP	5406	broad.mit.edu	37	10	118305632	118305632	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118305632C>A	ENST00000369221.2	+	2	56	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	10					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.L10M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCTTTCACTGCTGCTGGGAGC	0.428																																					p.L10M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28A	10						.						113.0	108.0	110.0					10																	118305632		2203	4300	6503	118295622	SO:0001583	missense	5406	exon2			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.28C>A	10.37:g.118305632C>A	ENSP00000358223:p.Leu10Met	Somatic		Capture	Illumina HiSeq	Phase_I	118295622	NM_000936	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038768	0.55003	.	.	ENSG00000175535	ENST00000369221	D	0.87491	-2.26	5.5	1.5	0.22942	.	0.240678	0.29080	N	0.013220	D	0.88433	0.6435	M	0.85462	2.755	0.34340	D	0.688657	P	0.50943	0.94	P	0.48454	0.578	D	0.89202	0.3558	10	0.72032	D	0.01	.	7.0427	0.25029	0.0:0.611:0.0:0.389	.	10	P16233	LIPP_HUMAN	M	10	ENSP00000358223:L10M	ENSP00000358223:L10M	L	+	1	2	PNLIP	118295622	0.640000	0.27243	0.976000	0.42696	0.997000	0.91878	-0.220000	0.09215	0.410000	0.25675	0.655000	0.94253	CTG		0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
PNLIPRP1	5407	broad.mit.edu	37	10	118351968	118351968	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118351968A>T	ENST00000528052.1	+	4	316	c.245A>T	c.(244-246)aAt>aTt	p.N82I	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.N82I|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.N82I|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.N82I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	82					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.N82I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GAGGCATCAAATTTTCAAATG	0.483																																					p.N82I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A245T	10						.						134.0	135.0	135.0					10																	118351968		2203	4300	6503	118341958	SO:0001583	missense	5407	exon4			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.245A>T	10.37:g.118351968A>T	ENSP00000433933:p.Asn82Ile	Somatic		Capture	Illumina HiSeq	Phase_I	118341958	NM_006229	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974778	0.53720	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.91124	-2.75;-2.75;-2.75;-2.75;-2.79;-2.75;-2.75;-2.75	5.06	5.06	0.68205	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	H	0.94620	3.56	0.46901	D	0.999244	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.97518	1.0071	10	0.87932	D	0	-21.3557	14.0861	0.64957	1.0:0.0:0.0:0.0	.	82;82	P54315;P54315-2	LIPR1_HUMAN;.	I	82	ENSP00000436123:N82I;ENSP00000351695:N82I;ENSP00000433933:N82I;ENSP00000400963:N82I;ENSP00000437263:N82I;ENSP00000433785:N82I;ENSP00000431207:N82I;ENSP00000434159:N82I	ENSP00000351695:N82I	N	+	2	0	PNLIPRP1	118341958	1.000000	0.71417	0.994000	0.49952	0.850000	0.48378	3.363000	0.52321	2.024000	0.59613	0.533000	0.62120	AAT		0.483	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229	
PNLIPRP1	5407	broad.mit.edu	37	10	118360679	118360679	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118360679C>A	ENST00000528052.1	+	10	1100	c.1029C>A	c.(1027-1029)ttC>ttA	p.F343L	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.F343L|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.F343L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	343					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.F343L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGCAGAAATTCTTCTTGAACA	0.448																																					p.F343L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1029A	10						.						135.0	113.0	120.0					10																	118360679		2203	4300	6503	118350669	SO:0001583	missense	5407	exon10			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1029C>A	10.37:g.118360679C>A	ENSP00000433933:p.Phe343Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118350669	NM_006229	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506659	0.26949	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.89552	-2.53;-2.53;-2.53	5.25	5.25	0.73442	Lipase, N-terminal (1);	0.314276	0.31821	N	0.007020	D	0.85703	0.5758	L	0.50333	1.59	0.80722	D	1	B	0.29162	0.235	B	0.36134	0.218	T	0.82713	-0.0321	10	0.46703	T	0.11	-11.9756	7.2239	0.26003	0.1704:0.7434:0.0:0.0862	.	343	P54315	LIPR1_HUMAN	L	343	ENSP00000351695:F343L;ENSP00000433933:F343L;ENSP00000434159:F343L	ENSP00000351695:F343L	F	+	3	2	PNLIPRP1	118350669	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.794000	0.26958	2.601000	0.87937	0.591000	0.81541	TTC		0.448	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229	
KCNK18	338567	broad.mit.edu	37	10	118969410	118969410	+	Missense_Mutation	SNP	C	C	T	rs149796761		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118969410C>T	ENST00000334549.1	+	3	755	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	252	Interaction with YWHAH. {ECO:0000250}.				cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S252L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AGGAGTAACTCGTGTCCCGAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20810	0.0		0.001	False		,,,				2504	0.0				p.S252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C755T	10						.	C	LEU/SER	0,4406		0,0,2203	145.0	131.0	135.0		755	5.4	0.7	10	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNK18	NM_181840.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	252/385	118969410	1,13005	2203	4300	6503	118959400	SO:0001583	missense	338567	exon3			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.755C>T	10.37:g.118969410C>T	ENSP00000334650:p.Ser252Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118959400	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.548483	0.86127	0.0	1.16E-4	ENSG00000186795	ENST00000334549	T	0.17054	2.3	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.36672	1.1	0.54753	D	0.999987	D	0.60160	0.987	P	0.45577	0.486	T	0.00575	-1.1663	10	0.51188	T	0.08	.	19.5658	0.95391	0.0:1.0:0.0:0.0	.	252	Q7Z418	KCNKI_HUMAN	L	252	ENSP00000334650:S252L	ENSP00000334650:S252L	S	+	2	0	KCNK18	118959400	1.000000	0.71417	0.681000	0.30009	0.084000	0.17831	3.640000	0.54350	2.704000	0.92352	0.655000	0.94253	TCG		0.542	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
EMX2	2018	broad.mit.edu	37	10	119305209	119305209	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:119305209G>A	ENST00000553456.3	+	2	1297	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	EMX2_ENST00000546446.1_3'UTR|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	158					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R158Q(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AAGCGGATCCGAACCGCCTTC	0.602																																					p.R158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	10						.						64.0	54.0	58.0					10																	119305209		2203	4300	6503	119295199	SO:0001583	missense	2018	exon2			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.473G>A	10.37:g.119305209G>A	ENSP00000450962:p.Arg158Gln	Somatic		Capture	Illumina HiSeq	Phase_I	119295199	NM_004098	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.571165	0.97671	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88532	0.3103	9	0.87932	D	0	-3.3813	20.2806	0.98513	0.0:0.0:1.0:0.0	.	158	Q04743	EMX2_HUMAN	Q	158	.	ENSP00000358202:R158Q	R	+	2	0	EMX2	119295199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	CGA		0.602	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098	
RAB11FIP2	22841	broad.mit.edu	37	10	119805348	119805348	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:119805348A>C	ENST00000355624.3	-	1	766	c.327T>G	c.(325-327)ttT>ttG	p.F109L	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F109L|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454781.1_RNA|CASC2_ENST00000454857.1_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	109					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.F109L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GTTTGTCCTCAAAGATGTCAT	0.343																																					p.F109L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T327G	10						.						54.0	54.0	54.0					10																	119805348		2203	4300	6503	119795338	SO:0001583	missense	22841	exon1			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.327T>G	10.37:g.119805348A>C	ENSP00000347839:p.Phe109Leu	Somatic		Capture	Illumina HiSeq	Phase_I	119795338	NM_014904	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479286	0.84747	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.69040	-0.37;-0.37	4.98	4.98	0.66077	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	L	0.61387	1.9	0.58432	D	0.999999	D;D	0.62365	0.991;0.991	P;P	0.61132	0.884;0.884	T	0.74592	-0.3614	10	0.30854	T	0.27	-11.8455	14.9852	0.71342	1.0:0.0:0.0:0.0	.	109;109	Q3I768;Q7L804	.;RFIP2_HUMAN	L	109	ENSP00000347839:F109L;ENSP00000358200:F109L	ENSP00000347839:F109L	F	-	3	2	RAB11FIP2	119795338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.428000	0.52792	1.999000	0.58509	0.533000	0.62120	TTT		0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904	
NANOS1	340719	broad.mit.edu	37	10	120795658	120795658	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:120795658C>A	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Nonsense_Mutation_p.E1314*|EIF3A_ENST00000369144.3_Nonsense_Mutation_p.E1348*	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E1348*(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TTTTCACCTTCTCTTTCTCGG	0.512																																					p.E1348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4042T	10						.						135.0	132.0	133.0					10																	120795658		2203	4300	6503	120785648	SO:0001628	intergenic_variant	8661	exon22			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120795658C>A		Somatic		Capture	Illumina HiSeq	Phase_I	120785648	NM_003750		Nonsense_Mutation	SNP	ENST00000425699.1	37	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	C	40	7.914923	0.98560	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	4.64	4.64	0.57946	.	0.594456	0.13629	U	0.373823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-4.9451	16.9687	0.86294	0.0:1.0:0.0:0.0	.	.	.	.	X	1348;1314	.	ENSP00000358140:E1348X	E	-	1	0	EIF3A	120785648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.375000	0.59549	2.861000	0.98227	0.655000	0.94253	GAA		0.512	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1		
EIF3A	8661	broad.mit.edu	37	10	120801652	120801652	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:120801652C>A	ENST00000369144.3	-	19	3507	c.3380G>T	c.(3379-3381)aGa>aTa	p.R1127I	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1093I	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1127I(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTGGGAATTCTGTCATCATC	0.577																																					p.R1127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3380T	10						.						183.0	161.0	168.0					10																	120801652		2203	4300	6503	120791642	SO:0001583	missense	8661	exon19			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3380G>T	10.37:g.120801652C>A	ENSP00000358140:p.Arg1127Ile	Somatic		Capture	Illumina HiSeq	Phase_I	120791642	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660517	0.29515	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26810	1.71;1.74	5.67	5.67	0.87782	.	0.000000	0.40640	N	0.001056	T	0.55097	0.1899	M	0.81802	2.56	0.27423	N	0.954231	D;P	0.76494	0.999;0.93	D;B	0.67548	0.952;0.36	T	0.53187	-0.8474	10	0.62326	D	0.03	-16.0067	19.773	0.96379	0.0:1.0:0.0:0.0	.	1093;1127	F5H335;Q14152	.;EIF3A_HUMAN	I	1127;1093	ENSP00000358140:R1127I;ENSP00000438178:R1093I	ENSP00000358140:R1127I	R	-	2	0	EIF3A	120791642	0.441000	0.25626	0.034000	0.17996	0.148000	0.21650	5.460000	0.66691	2.677000	0.91161	0.655000	0.94253	AGA		0.577	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
BAG3	9531	broad.mit.edu	37	10	121436434	121436434	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121436434G>A	ENST00000369085.3	+	4	1674	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	456	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.E456E(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TGATCGAAGAGTATTTGACCA	0.537																																					p.E456E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1368A	10						.						55.0	62.0	60.0					10																	121436434		2203	4300	6503	121426424	SO:0001819	synonymous_variant	9531	exon4			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1368G>A	10.37:g.121436434G>A		Somatic		Capture	Illumina HiSeq	Phase_I	121426424	NM_004281	A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	CCDS7615.1																																																																																				0.537	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281	
INPP5F	22876	broad.mit.edu	37	10	121541178	121541178	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121541178G>T	ENST00000361976.2	+	3	376	c.210G>T	c.(208-210)caG>caT	p.Q70H	INPP5F_ENST00000369081.1_5'UTR|INPP5F_ENST00000369083.3_Missense_Mutation_p.Q70H	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)	p.Q70H(1)		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)		TAATTCGGCAGAAAGCATTGG	0.438																																					p.Q70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	10						.						76.0	71.0	73.0					10																	121541178		2203	4300	6503	121531168	SO:0001583	missense	22876	exon3			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.210G>T	10.37:g.121541178G>T	ENSP00000354519:p.Gln70His	Somatic		Capture	Illumina HiSeq	Phase_I	121531168	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980424	0.74474	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.58358	0.34;0.34	5.96	5.04	0.67666	Synaptojanin, N-terminal (1);	0.052600	0.85682	N	0.000000	T	0.40719	0.1128	N	0.25825	0.765	0.58432	D	0.999998	B;B	0.18968	0.032;0.01	B;B	0.20767	0.031;0.009	T	0.29549	-1.0008	10	0.59425	D	0.04	-15.1634	11.5457	0.50693	0.066:0.0:0.8083:0.1257	.	70;70	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	H	70	ENSP00000354519:Q70H;ENSP00000358079:Q70H	ENSP00000354519:Q70H	Q	+	3	2	INPP5F	121531168	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.003000	0.70701	1.474000	0.48178	0.655000	0.94253	CAG		0.438	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
INPP5F	22876	broad.mit.edu	37	10	121551492	121551492	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121551492A>T	ENST00000361976.2	+	5	722	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	INPP5F_ENST00000369081.1_Missense_Mutation_p.N90Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.N186Y	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					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)	p.N90Y(1)|p.N186Y(1)		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)		TGACCTGACCAATTCCGTGCA	0.498																																					p.N186Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A556T	10						.						173.0	174.0	174.0					10																	121551492		2203	4300	6503	121541482	SO:0001583	missense	22876	exon5			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.556A>T	10.37:g.121551492A>T	ENSP00000354519:p.Asn186Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	121541482	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497785	0.85069	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T;T	0.59638	0.25;0.25;0.25	5.68	5.68	0.88126	Synaptojanin, N-terminal (2);	0.088509	0.85682	D	0.000000	T	0.78470	0.4288	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.72338	0.977;0.919	T	0.81911	-0.0716	10	0.62326	D	0.03	-33.0634	15.9281	0.79635	1.0:0.0:0.0:0.0	.	186;186	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	186;186;90	ENSP00000354519:N186Y;ENSP00000358079:N186Y;ENSP00000358077:N90Y	ENSP00000354519:N186Y	N	+	1	0	INPP5F	121541482	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	8.745000	0.91600	2.145000	0.66743	0.528000	0.53228	AAT		0.498	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
INPP5F	22876	broad.mit.edu	37	10	121571328	121571328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121571328G>T	ENST00000361976.2	+	15	1913	c.1747G>T	c.(1747-1749)Gaa>Taa	p.E583*		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				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)	p.E583*(1)		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)		CAAGGAGAAAGAACATGAAGC	0.363																																					p.E583X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1747T	10						.						98.0	106.0	103.0					10																	121571328		2203	4300	6503	121561318	SO:0001587	stop_gained	22876	exon15			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.1747G>T	10.37:g.121571328G>T	ENSP00000354519:p.Glu583*	Somatic		Capture	Illumina HiSeq	Phase_I	121561318	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981294	0.93044	.	.	ENSG00000198825	ENST00000361976	.	.	.	5.58	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.4397	15.8135	0.78581	0.0:0.0:0.8629:0.1371	.	.	.	.	X	583	.	ENSP00000354519:E583X	E	+	1	0	INPP5F	121561318	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	7.805000	0.86005	1.345000	0.45676	-0.182000	0.12963	GAA		0.363	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
MCMBP	79892	broad.mit.edu	37	10	121616852	121616852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121616852C>A	ENST00000360003.3	-	5	596	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.E143*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	143					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E143*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AAGGATATTTCTTTTACCCAC	0.358																																					p.E143X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G427T	10						.						95.0	96.0	96.0					10																	121616852		2203	4300	6503	121606842	SO:0001587	stop_gained	79892	exon5			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.427G>T	10.37:g.121616852C>A	ENSP00000353098:p.Glu143*	Somatic		Capture	Illumina HiSeq	Phase_I	121606842	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Nonsense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	37	6.595242	0.97692	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.98	5.98	0.97165	.	2.210140	0.01123	N	0.005824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.3037	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000353098:E143X	E	-	1	0	MCMBP	121606842	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.291000	0.78721	2.835000	0.97688	0.650000	0.86243	GAA		0.358	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
MCMBP	79892	broad.mit.edu	37	10	121618678	121618678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121618678C>T	ENST00000360003.3	-	3	329	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.E54K	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	54					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E54K(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGGGGAACTTCGTTCAGTGAT	0.328																																					p.E54K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G160A	10						.						55.0	56.0	56.0					10																	121618678		2203	4299	6502	121608668	SO:0001583	missense	79892	exon3			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.160G>A	10.37:g.121618678C>T	ENSP00000353098:p.Glu54Lys	Somatic		Capture	Illumina HiSeq	Phase_I	121608668	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731140	0.69189	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.32	5.32	0.75619	.	0.053583	0.64402	D	0.000001	T	0.34629	0.0904	L	0.27053	0.805	0.50313	D	0.99986	P	0.36535	0.557	B	0.22753	0.041	T	0.30060	-0.9991	9	0.07990	T	0.79	0.8293	18.9927	0.92800	0.0:1.0:0.0:0.0	.	54	Q9BTE3	MCMBP_HUMAN	K	54	.	ENSP00000353098:E54K	E	-	1	0	MCMBP	121608668	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.304000	0.78882	2.472000	0.83506	0.591000	0.81541	GAA		0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
DHTKD1	55526	broad.mit.edu	37	10	12126658	12126658	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:12126658G>T	ENST00000263035.4	+	3	492	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	144					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.D144Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGATGAGAAAGACTGGTTTGC	0.443																																					p.D144Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430T	10						.						161.0	163.0	162.0					10																	12126658		2203	4300	6503	12166664	SO:0001583	missense	55526	exon3			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.430G>T	10.37:g.12126658G>T	ENSP00000263035:p.Asp144Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	12166664	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463589	0.63513	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.18960	3.47;2.18	5.39	3.52	0.40303	.	0.228704	0.50627	D	0.000103	T	0.21103	0.0508	L	0.55213	1.73	0.43703	D	0.996163	B	0.26002	0.139	B	0.28638	0.092	T	0.03608	-1.1020	10	0.59425	D	0.04	-18.629	9.3156	0.37932	0.1351:0.1202:0.7447:0.0	.	144	Q96HY7	DHTK1_HUMAN	Y	144	ENSP00000263035:D144Y;ENSP00000388163:D144Y	ENSP00000263035:D144Y	D	+	1	0	DHTKD1	12166664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.321000	0.59209	0.754000	0.32968	0.603000	0.83216	GAC		0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
SEC23IP	11196	broad.mit.edu	37	10	121658206	121658206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:121658206C>T	ENST00000369075.3	+	2	503	c.431C>T	c.(430-432)gCt>gTt	p.A144V	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	144	Interaction with SEC23A.|Pro-rich.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A144V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAACCTGGTGCTCCACCTTCC	0.483																																					p.A144V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	10						.						143.0	124.0	131.0					10																	121658206		2203	4300	6503	121648196	SO:0001583	missense	11196	exon2			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.431C>T	10.37:g.121658206C>T	ENSP00000358071:p.Ala144Val	Somatic		Capture	Illumina HiSeq	Phase_I	121648196	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123158	0.37436	.	.	ENSG00000107651	ENST00000369075	D	0.97186	-4.28	5.44	3.25	0.37280	.	0.373835	0.29403	N	0.012255	D	0.91469	0.7307	N	0.16478	0.41	0.32100	N	0.59068	B	0.02656	0.0	B	0.04013	0.001	D	0.88075	0.2803	10	0.22706	T	0.39	-11.5339	10.2618	0.43431	0.0:0.7635:0.0:0.2365	.	144	Q9Y6Y8	S23IP_HUMAN	V	144	ENSP00000358071:A144V	ENSP00000358071:A144V	A	+	2	0	SEC23IP	121648196	0.185000	0.23213	1.000000	0.80357	0.820000	0.46376	1.596000	0.36718	1.293000	0.44690	0.655000	0.94253	GCT		0.483	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
WDR11	55717	broad.mit.edu	37	10	122643379	122643379	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:122643379C>T	ENST00000263461.6	+	14	2073	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	266					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.N609N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGTCCAAAAACTTCCCTACAA	0.343																																					p.N609N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1827T	10						.						86.0	82.0	84.0					10																	122643379		2203	4300	6503	122633369	SO:0001819	synonymous_variant	55717	exon14			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1827C>T	10.37:g.122643379C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122633369	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.343	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
WDR11	55717	broad.mit.edu	37	10	122650314	122650314	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:122650314C>A	ENST00000263461.6	+	19	2676	c.2430C>A	c.(2428-2430)atC>atA	p.I810I	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I810I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATAAAGTGATCTTGGCCTCAG	0.428																																					p.I810I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2430A	10						.						271.0	244.0	253.0					10																	122650314		2203	4300	6503	122640304	SO:0001819	synonymous_variant	55717	exon19			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2430C>A	10.37:g.122650314C>A		Somatic		Capture	Illumina HiSeq	Phase_I	122640304	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
ATE1	11101	broad.mit.edu	37	10	123659467	123659467	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:123659467C>A	ENST00000224652.6	-	7	941	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S	ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.A171S|ATE1_ENST00000369040.3_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	286					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.A286S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGAAGTGTGGCTTTGAACTGC	0.438																																					p.A286S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856T	10						.						134.0	122.0	126.0					10																	123659467		2203	4300	6503	123649457	SO:0001583	missense	11101	exon7			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.856G>T	10.37:g.123659467C>A	ENSP00000224652:p.Ala286Ser	Somatic		Capture	Illumina HiSeq	Phase_I	123649457	NM_001001976	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.927|7.927	0.739838|0.739838	0.15642|0.15642	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000224652;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.30510|0.30510	0.0767|0.0767	N|N	0.02181|0.02181	-0.65|-0.65	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.11329|.	0.006|.	T|T	0.32877|0.32877	-0.9890|-0.9890	8|5	0.02654|.	T|.	1|.	.|.	14.78|14.78	0.69760|0.69760	0.1442:0.8557:0.0:0.0|0.1442:0.8557:0.0:0.0	.|.	286|.	O95260|.	ATE1_HUMAN|.	S|I	286;171|282	.|.	ENSP00000224652:A286S|.	A|S	-|-	1|2	0|0	ATE1|ATE1	123649457|123649457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.691000|4.691000	0.61738|0.61738	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.438	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	
TACC2	10579	broad.mit.edu	37	10	123842196	123842196	+	Missense_Mutation	SNP	G	G	A	rs115572080	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:123842196G>A	ENST00000369005.1	+	4	521	c.181G>A	c.(181-183)Gct>Act	p.A61T	TACC2_ENST00000515603.1_Missense_Mutation_p.A61T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A61T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A61T|TACC2_ENST00000515273.1_Missense_Mutation_p.A61T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	61					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A61T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCTGCACCGCTTCTGAGAG	0.542													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18076	0.0		0.0	False		,,,				2504	0.0				p.A61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	10						.	G	,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	87.0	88.0	88.0		,181	-10.5	0.0	10	dbSNP_133	88	0,8600		0,0,4300	no	intron,missense	TACC2	NM_206861.1,NM_206862.2	,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,61/2949	123842196	1,13005	2203	4300	6503	123832186	SO:0001583	missense	10579	exon4			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.181G>A	10.37:g.123842196G>A	ENSP00000358001:p.Ala61Thr	Somatic		Capture	Illumina HiSeq	Phase_I	123832186	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.84|12.84	2.059460|2.059460	0.36373|0.36373	2.27E-4|2.27E-4	0.0|0.0	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03358|.	4.0;3.96;4.0;4.0;3.96|.	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	0.864674|.	0.09443|.	N|.	0.801535|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.12760|0.12760	-1.0535|-1.0535	10|5	0.32370|.	T|.	0.25|.	0.0157|0.0157	7.1669|7.1669	0.25695|0.25695	0.2288:0.1145:0.5653:0.0914|0.2288:0.1145:0.5653:0.0914	.|.	61;61;61|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	T|H	61;61;61;61;61;51|74	ENSP00000358001:A61T;ENSP00000424467:A61T;ENSP00000427618:A61T;ENSP00000334280:A61T;ENSP00000395048:A61T|.	ENSP00000334280:A61T|.	A|R	+|+	1|2	0|0	TACC2|TACC2	123832186|123832186	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.508000|0.508000	0.34012|0.34012	-2.346000|-2.346000	0.01096|0.01096	-3.016000|-3.016000	0.00271|0.00271	-0.252000|-0.252000	0.11476|0.11476	GCT|CGC		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
HTRA1	5654	broad.mit.edu	37	10	124248963	124248963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:124248963C>T	ENST00000368984.3	+	3	726	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	200					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P200S(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGAGAGGTGCCGGTGGCTAG	0.473																																					p.P200S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C598T	10						.						143.0	142.0	143.0					10																	124248963		2203	4300	6503	124238953	SO:0001583	missense	5654	exon3			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.598C>T	10.37:g.124248963C>T	ENSP00000357980:p.Pro200Ser	Somatic		Capture	Illumina HiSeq	Phase_I	124238953	NM_002775	D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361649	0.24684	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.87729	-2.29	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);	0.116937	0.64402	D	0.000017	D	0.86619	0.5976	M	0.74467	2.265	0.54753	D	0.999989	B	0.24651	0.108	B	0.20955	0.032	D	0.85448	0.1159	10	0.66056	D	0.02	-11.2893	14.3536	0.66722	0.1485:0.8515:0.0:0.0	.	200	Q92743	HTRA1_HUMAN	S	200;167	ENSP00000357980:P200S	ENSP00000357980:P200S	P	+	1	0	HTRA1	124238953	1.000000	0.71417	0.977000	0.42913	0.199000	0.23934	2.609000	0.46317	2.386000	0.81285	0.650000	0.86243	CCG		0.473	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	
HTRA1	5654	broad.mit.edu	37	10	124268215	124268215	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:124268215G>T	ENST00000368984.3	+	6	1177	c.1049G>T	c.(1048-1050)gGa>gTa	p.G350V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	350	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G350V(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GTGACAGCTGGAATCTCCTTT	0.493																																					p.G350V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1049T	10						.						159.0	159.0	159.0					10																	124268215		2203	4300	6503	124258205	SO:0001583	missense	5654	exon6			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1049G>T	10.37:g.124268215G>T	ENSP00000357980:p.Gly350Val	Somatic		Capture	Illumina HiSeq	Phase_I	124258205	NM_002775	D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595929	0.86953	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.18657	2.2;2.2	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65220	-0.6221	10	0.87932	D	0	-16.7032	18.6471	0.91415	0.0:0.0:1.0:0.0	.	350	Q92743	HTRA1_HUMAN	V	350;317;91	ENSP00000357980:G350V;ENSP00000412676:G91V	ENSP00000357980:G350V	G	+	2	0	HTRA1	124258205	1.000000	0.71417	0.858000	0.33744	0.996000	0.88848	9.598000	0.98277	2.410000	0.81850	0.655000	0.94253	GGA		0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	
DMBT1	1755	broad.mit.edu	37	10	124339172	124339172	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:124339172G>A	ENST00000338354.3	+	10	864	c.758G>A	c.(757-759)gGc>gAc	p.G253D	DMBT1_ENST00000368956.2_Missense_Mutation_p.G253D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G253D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G253D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G253D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G253D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	253	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.G253D(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTATACCGAGGCTCCTGGGGC	0.592																																					p.G253D	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G758A	10						.						273.0	267.0	269.0					10																	124339172		2008	4184	6192	124329162	SO:0001583	missense	1755	exon10				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.758G>A	10.37:g.124339172G>A	ENSP00000342210:p.Gly253Asp	Somatic		Capture	Illumina HiSeq	Phase_I	124329162	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	15.41	2.824627	0.50739	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.07	3.13	0.36017	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.58977	0.2160	M	0.85710	2.77	0.80722	D	1	D;D;P;D;D	0.89917	0.984;1.0;0.765;1.0;1.0	P;D;B;D;D	0.97110	0.903;0.999;0.211;0.985;1.0	T	0.59584	-0.7427	9	0.56958	D	0.05	.	7.8646	0.29530	0.0864:0.0:0.7522:0.1614	.	253;253;253;253;253	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	D	253	ENSP00000342210:G253D;ENSP00000343175:G253D;ENSP00000327747:G253D;ENSP00000357905:G253D;ENSP00000357951:G253D;ENSP00000357952:G253D	ENSP00000331522:G253D	G	+	2	0	DMBT1	124329162	0.992000	0.36948	0.875000	0.34327	0.560000	0.35617	2.532000	0.45659	0.809000	0.34255	0.537000	0.68136	GGC		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
DMBT1	1755	broad.mit.edu	37	10	124339268	124339268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:124339268G>A	ENST00000338354.3	+	10	960	c.854G>A	c.(853-855)gGa>gAa	p.G285E	DMBT1_ENST00000368956.2_Missense_Mutation_p.G285E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G285E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G285E|DMBT1_ENST00000368909.3_Missense_Mutation_p.G285E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G285E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	285	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.G285E(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCAG	0.612																																					p.G285E	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G854A	10						.						122.0	122.0	122.0					10																	124339268		1915	4115	6030	124329258	SO:0001583	missense	1755	exon10				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.854G>A	10.37:g.124339268G>A	ENSP00000342210:p.Gly285Glu	Somatic		Capture	Illumina HiSeq	Phase_I	124329258	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	9.361	1.068106	0.20067	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.07	2.16	0.27623	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.62011	0.2393	M	0.81112	2.525	0.09310	N	0.999999	D;D;P;D;D	0.89917	1.0;1.0;0.927;1.0;1.0	D;D;B;D;D	0.97110	0.995;1.0;0.233;1.0;1.0	T	0.49835	-0.8897	9	0.40728	T	0.16	.	9.0703	0.36488	0.0811:0.4183:0.5005:0.0	.	285;285;285;285;285	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	E	285	ENSP00000342210:G285E;ENSP00000343175:G285E;ENSP00000327747:G285E;ENSP00000357905:G285E;ENSP00000357951:G285E;ENSP00000357952:G285E	ENSP00000331522:G285E	G	+	2	0	DMBT1	124329258	0.000000	0.05858	0.075000	0.20258	0.359000	0.29487	-0.518000	0.06267	0.320000	0.23234	0.537000	0.68136	GGA		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
CHST15	51363	broad.mit.edu	37	10	125804370	125804370	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:125804370G>T	ENST00000346248.5	-	3	1254	c.612C>A	c.(610-612)ttC>ttA	p.F204L	CHST15_ENST00000435907.1_Missense_Mutation_p.F204L|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.F204L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	204					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.F204L(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTGCCCCGAGAACTCCTCGT	0.562																																					p.F204L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C612A	10						.						120.0	110.0	113.0					10																	125804370		2203	4300	6503	125794360	SO:0001583	missense	51363	exon3			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.612C>A	10.37:g.125804370G>T	ENSP00000333947:p.Phe204Leu	Somatic		Capture	Illumina HiSeq	Phase_I	125794360	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360185	0.82353	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.65	4.74	0.60224	.	0.062805	0.64402	D	0.000003	T	0.42832	0.1220	N	0.19112	0.55	0.40519	D	0.980817	P;B	0.45531	0.86;0.172	P;B	0.44561	0.453;0.058	T	0.48647	-0.9017	9	0.62326	D	0.03	-32.0367	13.251	0.60052	0.074:0.0:0.926:0.0	.	204;204	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	L	204	.	ENSP00000333947:F204L	F	-	3	2	CHST15	125794360	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.176000	0.50863	1.362000	0.46000	0.655000	0.94253	TTC		0.562	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
METTL10	399818	broad.mit.edu	37	10	126454119	126454119	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:126454119T>G	ENST00000368836.2	-	5	494	c.458A>C	c.(457-459)aAa>aCa	p.K153T	Y_RNA_ENST00000362596.1_RNA|RP11-12J10.3_ENST00000494792.1_Missense_Mutation_p.K118Q	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	153							methyltransferase activity (GO:0008168)	p.K153T(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		AAAAGTCCCTTTGTCAATACA	0.353																																					p.K153T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A458C	10						.						88.0	87.0	87.0					10																	126454119		2203	4300	6503	126444109	SO:0001583	missense	399818	exon5				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 138"""	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.458A>C	10.37:g.126454119T>G	ENSP00000357829:p.Lys153Thr	Somatic		Capture	Illumina HiSeq	Phase_I	126444109	NM_212554	A8MPY7	Missense_Mutation	SNP	ENST00000368836.2	37	CCDS31307.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697564	0.88830	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	T	0.23552	1.9	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	H	0.94264	3.515	0.46222	D	0.998937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.75605	-0.3260	9	0.87932	D	0	-13.7333	16.2365	0.82377	0.0:0.0:0.0:1.0	.	75;154;153	E7EP98;B5MDU2;Q5JPI9	.;.;MTL10_HUMAN	T	153	ENSP00000357829:K153T	ENSP00000351845:K153T	K	-	2	0	METTL10	126444109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.552000	0.82192	2.238000	0.73509	0.477000	0.44152	AAA		0.353	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554	
FAM175B	23172	broad.mit.edu	37	10	126517437	126517437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:126517437G>T	ENST00000298492.5	+	6	616	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	191					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.E191*(1)		NS(1)	1						AGTGATTAAAGAACATGGGTA	0.338																																					p.E191X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G571T	10						.						98.0	95.0	96.0					10																	126517437		2203	4300	6503	126507427	SO:0001587	stop_gained	23172	exon6			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.571G>T	10.37:g.126517437G>T	ENSP00000298492:p.Glu191*	Somatic		Capture	Illumina HiSeq	Phase_I	126507427	NM_032182	B4DKR2|Q96H11	Nonsense_Mutation	SNP	ENST00000298492.5	37	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	G	36	5.966895	0.97156	.	.	ENSG00000165660	ENST00000298492	.	.	.	6.04	6.04	0.98038	.	0.142977	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-14.5946	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000298492:E191X	E	+	1	0	FAM175B	126507427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.459000	0.97638	2.873000	0.98535	0.563000	0.77884	GAA		0.338	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182	
CTBP2	1488	broad.mit.edu	37	10	126716304	126716304	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:126716304T>G	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.N9H|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.N9H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGACCAATATTTATATGCCTG	0.502																																					p.N9H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A25C	10						.						17.0	20.0	19.0					10																	126716304		2201	4298	6499	126706294	SO:0001627	intron_variant	1488	exon1			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11261A>C	10.37:g.126716304T>G		Somatic		Capture	Illumina HiSeq	Phase_I	126706294	NM_022802	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	6.176	0.400734	0.11696	.	.	ENSG00000175029	ENST00000309035	D	0.94046	-3.34	4.34	-0.749	0.11084	.	1.234140	0.05749	N	0.602755	D	0.86606	0.5973	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.72087	-0.4396	9	0.33940	T	0.23	.	5.0993	0.14751	0.0:0.2451:0.1539:0.601	.	9	P56545-2	.	H	9	ENSP00000311825:N9H	ENSP00000311825:N9H	N	-	1	0	CTBP2	126706294	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	0.001000	0.13038	-0.221000	0.09973	0.528000	0.53228	AAT		0.502	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
ADAM12	8038	broad.mit.edu	37	10	127967512	127967512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:127967512C>A	ENST00000368679.4	-	3	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	ADAM12_ENST00000368676.4_Nonsense_Mutation_p.E78*	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	78					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E78*(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATGATCAGTTCTTTGCTTTCC	0.348																																					p.E78X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G232T	10						.						135.0	127.0	130.0					10																	127967512		2202	4299	6501	127957502	SO:0001587	stop_gained	8038	exon3			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.232G>T	10.37:g.127967512C>A	ENSP00000357668:p.Glu78*	Somatic		Capture	Illumina HiSeq	Phase_I	127957502	NM_003474	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	38	6.768443	0.97825	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	.	.	.	4.86	3.92	0.45320	.	1.318270	0.05869	U	0.624332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	7.8085	0.29217	0.1858:0.6347:0.1795:0.0	.	.	.	.	X	78	.	ENSP00000357665:E78X	E	-	1	0	ADAM12	127957502	0.049000	0.20398	0.273000	0.24645	0.969000	0.65631	1.288000	0.33296	1.208000	0.43306	0.563000	0.77884	GAA		0.348	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
C10orf90	118611	broad.mit.edu	37	10	128114614	128114614	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:128114614T>G	ENST00000284694.7	-	8	2127	c.2007A>C	c.(2005-2007)caA>caC	p.Q669H	C10orf90_ENST00000454341.1_Missense_Mutation_p.Q572H|C10orf90_ENST00000544758.1_Missense_Mutation_p.Q766H|C10orf90_ENST00000480379.1_Missense_Mutation_p.Q73H|C10orf90_ENST00000356858.3_Missense_Mutation_p.Q622H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	669	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q669H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCCTTTTCCTTTGTTCTTCTT	0.438																																					p.Q669H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2007C	10						.						162.0	153.0	156.0					10																	128114614		2203	4300	6503	128104604	SO:0001583	missense	118611	exon8			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2007A>C	10.37:g.128114614T>G	ENSP00000284694:p.Gln669His	Somatic		Capture	Illumina HiSeq	Phase_I	128104604	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.934727|3.934727	0.73442|0.73442	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758	.|T;T;T	.|0.19105	.|2.17;2.19;2.17	5.58|5.58	-0.431|-0.431	0.12295|0.12295	.|.	.|0.000000	.|0.42294	.|D	.|0.000734	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.73380	.|0.98;0.98;0.98	T|T	0.04017|0.04017	-1.0984|-1.0984	5|10	.|0.72032	.|D	.|0.01	-6.5546|-6.5546	8.8393|8.8393	0.35131|0.35131	0.0:0.4512:0.0:0.5488|0.0:0.4512:0.0:0.5488	.|.	.|766;669;572	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	T|H	212|622;669;572;766	.|ENSP00000284694:Q669H;ENSP00000398786:Q572H;ENSP00000444369:Q766H	.|ENSP00000284694:Q669H	K|Q	-|-	2|3	0|2	C10orf90|C10orf90	128104604|128104604	0.991000|0.991000	0.36638|0.36638	0.934000|0.934000	0.37439|0.37439	0.997000|0.997000	0.91878|0.91878	0.022000|0.022000	0.13511|0.13511	-0.237000|-0.237000	0.09739|0.09739	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.438	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128118370	128118370	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:128118370A>G	ENST00000284694.7	-	7	2067	c.1947T>C	c.(1945-1947)caT>caC	p.H649H	C10orf90_ENST00000454341.1_Silent_p.H552H|C10orf90_ENST00000544758.1_Silent_p.H746H|C10orf90_ENST00000480379.1_Silent_p.H53H|C10orf90_ENST00000356858.3_Silent_p.H602H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	649	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.H649H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TAGATCGCATATGCATCTCCT	0.438																																					p.H649H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1947C	10						.						252.0	224.0	233.0					10																	128118370		2203	4300	6503	128108360	SO:0001819	synonymous_variant	118611	exon7			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1947T>C	10.37:g.128118370A>G		Somatic		Capture	Illumina HiSeq	Phase_I	128108360	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	A	8.061	0.768133	0.15983	.	.	ENSG00000154493	ENST00000424927	.	.	.	4.78	-1.66	0.08265	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52283	-0.8596	4	.	.	.	-14.8599	10.5394	0.45024	0.3599:0.0:0.6401:0.0	.	.	.	.	T	192	.	.	I	-	2	0	C10orf90	128108360	0.959000	0.32827	0.989000	0.46669	0.990000	0.78478	-0.052000	0.11865	-0.223000	0.09943	-0.408000	0.06270	ATA		0.438	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128193034	128193034	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:128193034C>T	ENST00000284694.7	-	3	855	c.735G>A	c.(733-735)ccG>ccA	p.P245P	C10orf90_ENST00000454341.1_Silent_p.P245P|C10orf90_ENST00000544758.1_Silent_p.P342P|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.P198P|C10orf90_ENST00000356858.3_Silent_p.P198P	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	245					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P245P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGAACACCAGCGGGCTCTTTC	0.537											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P245P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G735A	10						.						73.0	81.0	78.0					10																	128193034		2203	4300	6503	128183024	SO:0001819	synonymous_variant	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.735G>A	10.37:g.128193034C>T		Somatic	1563	Capture	Illumina HiSeq	Phase_I	128183024	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1																																																																																				0.537	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128193313	128193313	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:128193313G>A	ENST00000284694.7	-	3	576	c.456C>T	c.(454-456)cgC>cgT	p.R152R	C10orf90_ENST00000454341.1_Silent_p.R152R|C10orf90_ENST00000544758.1_Silent_p.R249R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.R105R|C10orf90_ENST00000356858.3_Silent_p.R105R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	152	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R152R(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACACCAGGGCGCGGGCTGGGG	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R152R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C456T	10						.						25.0	31.0	29.0					10																	128193313		2174	4265	6439	128183303	SO:0001819	synonymous_variant	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.456C>T	10.37:g.128193313G>A		Somatic	1563	Capture	Illumina HiSeq	Phase_I	128183303	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1																																																																																				0.697	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
DOCK1	1793	broad.mit.edu	37	10	128798493	128798493	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:128798493C>T	ENST00000280333.6	+	10	1016	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	303					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R303C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAGATTGTTCGCGTGGGTCG	0.453																																					p.R303C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	10						.						90.0	95.0	94.0					10																	128798493		1931	4142	6073	128688483	SO:0001583	missense	1793	exon10			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.907C>T	10.37:g.128798493C>T	ENSP00000280333:p.Arg303Cys	Somatic		Capture	Illumina HiSeq	Phase_I	128688483	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250883	0.59212	.	.	ENSG00000150760	ENST00000280333	T	0.18657	2.2	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.53642	0.1809	M	0.92507	3.315	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.64343	-0.6430	10	0.87932	D	0	.	12.5307	0.56113	0.167:0.833:0.0:0.0	.	303;303	B2RUU3;Q14185	.;DOCK1_HUMAN	C	303	ENSP00000280333:R303C	ENSP00000280333:R303C	R	+	1	0	DOCK1	128688483	0.581000	0.26741	0.462000	0.27118	0.976000	0.68499	1.223000	0.32527	2.525000	0.85131	0.655000	0.94253	CGC		0.453	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
PTPRE	5791	broad.mit.edu	37	10	129881110	129881110	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:129881110C>A	ENST00000254667.3	+	21	2322	c.2043C>A	c.(2041-2043)ttC>ttA	p.F681L	PTPRE_ENST00000419012.2_Missense_Mutation_p.F681L|PTPRE_ENST00000306042.5_Missense_Mutation_p.F623L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	681	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F681F(1)|p.F681L(1)|p.F623L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AGTATGAATTCTGCTACAAAG	0.264																																					p.F681L	Colon(52;977 1184 20575 41685)											.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.C2043A	10						.						74.0	77.0	76.0					10																	129881110		2197	4284	6481	129771100	SO:0001583	missense	5791	exon21			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.2043C>A	10.37:g.129881110C>A	ENSP00000254667:p.Phe681Leu	Somatic		Capture	Illumina HiSeq	Phase_I	129771100	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.303581|4.303581	0.81136|0.81136	.|.	.|.	ENSG00000132334|ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042|ENST00000439034	T;T;T|.	0.15139|.	2.45;2.45;2.45|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.123934|.	0.56097|.	D|.	0.000036|.	T|T	0.75910|0.75910	0.3914|0.3914	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.59767	1.0;1.0;1.0|0.986	D;D;D|P	0.83275|0.55112	0.996;0.992;0.996|0.769	T|T	0.78316|0.78316	-0.2251|-0.2251	10|8	0.49607|0.87932	T|D	0.09|0	.|.	19.6787|19.6787	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	681;623;681|614	Q5VWH4;P23469-2;P23469|F5H0X4	.;.;PTPRE_HUMAN|.	L|Y	681;681;623|614	ENSP00000254667:F681L;ENSP00000402337:F681L;ENSP00000303350:F623L|.	ENSP00000254667:F681L|ENSP00000415807:S614Y	F|S	+|+	3|2	2|0	PTPRE|PTPRE	129771100|129771100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.905000|3.905000	0.56333|0.56333	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.264	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
MKI67	4288	broad.mit.edu	37	10	129902740	129902740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:129902740G>T	ENST00000368654.3	-	13	7739	c.7364C>A	c.(7363-7365)aCt>aAt	p.T2455N	MKI67_ENST00000368653.3_Missense_Mutation_p.T2095N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2455	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2455N(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTCATCAGTCATTGATTC	0.468																																					p.T2095N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6284A	10						.						136.0	135.0	135.0					10																	129902740		2203	4300	6503	129792730	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7364C>A	10.37:g.129902740G>T	ENSP00000357643:p.Thr2455Asn	Somatic		Capture	Illumina HiSeq	Phase_I	129792730	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930934	0.34096	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01584	4.83;4.75	3.0	-1.6	0.08426	.	1.304800	0.05476	N	0.553989	T	0.03263	0.0095	L	0.46157	1.445	0.09310	N	1	D;B;B	0.57899	0.981;0.291;0.296	P;B;B	0.50934	0.654;0.061;0.027	T	0.48479	-0.9032	10	0.17832	T	0.49	.	8.2566	0.31760	0.0959:0.5025:0.4015:0.0	.	2454;2095;2455	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2455;2095;2454	ENSP00000357643:T2455N;ENSP00000357642:T2095N	ENSP00000357642:T2095N	T	-	2	0	MKI67	129792730	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.549000	0.06041	-0.330000	0.08514	0.563000	0.77884	ACT		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129905805	129905805	+	Silent	SNP	C	C	T	rs201154383		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:129905805C>T	ENST00000368654.3	-	13	4674	c.4299G>A	c.(4297-4299)gcG>gcA	p.A1433A	MKI67_ENST00000368653.3_Silent_p.A1073A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1433	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A1433A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCCTAAACGCGTTGATGC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20445	0.0		0.0	False		,,,				2504	0.0				p.A1073A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3219A	10						.						250.0	236.0	241.0					10																	129905805		2203	4300	6503	129795795	SO:0001819	synonymous_variant	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4299G>A	10.37:g.129905805C>T		Somatic		Capture	Illumina HiSeq	Phase_I	129795795	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
OPTN	10133	broad.mit.edu	37	10	13167530	13167530	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13167530G>A	ENST00000378748.3	+	11	1473	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	OPTN_ENST00000378747.3_Missense_Mutation_p.E371K|OPTN_ENST00000263036.5_Missense_Mutation_p.E371K|OPTN_ENST00000378757.2_Missense_Mutation_p.E371K|OPTN_ENST00000378764.2_Missense_Mutation_p.E365K|OPTN_ENST00000378752.3_Missense_Mutation_p.E365K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	371					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.E371K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGCTATCAGAAATCAAAAT	0.398																																					p.E371K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111A	10						.						85.0	88.0	87.0					10																	13167530		2203	4300	6503	13207536	SO:0001583	missense	10133	exon10			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1111G>A	10.37:g.13167530G>A	ENSP00000368022:p.Glu371Lys	Somatic		Capture	Illumina HiSeq	Phase_I	13207536	NM_001008212	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695303	0.68386	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87179	-2.21;-2.22;-2.21;-2.22;-2.21;-2.21	5.62	5.62	0.85841	.	0.137147	0.64402	D	0.000004	D	0.89924	0.6856	M	0.64997	1.995	0.51767	D	0.999938	P;P	0.45396	0.853;0.857	P;P	0.49999	0.628;0.51	D	0.89471	0.3743	10	0.49607	T	0.09	-16.6672	18.7875	0.91961	0.0:0.0:1.0:0.0	.	365;371	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	K	371;365;371;365;371;371	ENSP00000263036:E371K;ENSP00000368040:E365K;ENSP00000368032:E371K;ENSP00000368027:E365K;ENSP00000368022:E371K;ENSP00000368021:E371K	ENSP00000263036:E371K	E	+	1	0	OPTN	13207536	1.000000	0.71417	0.949000	0.38748	0.238000	0.25445	5.334000	0.65923	2.814000	0.96858	0.585000	0.79938	GAA		0.398	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
MCM10	55388	broad.mit.edu	37	10	13214443	13214443	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13214443A>G	ENST00000484800.2	+	4	520	c.417A>G	c.(415-417)aaA>aaG	p.K139K	MCM10_ENST00000378714.3_Silent_p.K139K|MCM10_ENST00000378694.1_Silent_p.K139K			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	139	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.K139K(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAACAATTAAACAGACAGCAA	0.358																																					p.K139K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A417G	10						.						105.0	114.0	111.0					10																	13214443		2203	4300	6503	13254449	SO:0001819	synonymous_variant	55388	exon4			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.417A>G	10.37:g.13214443A>G		Somatic		Capture	Illumina HiSeq	Phase_I	13254449	NM_018518	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	CCDS7096.1																																																																																				0.358	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
MCM10	55388	broad.mit.edu	37	10	13237243	13237243	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13237243C>A	ENST00000484800.2	+	14	2054	c.1951C>A	c.(1951-1953)Ctg>Atg	p.L651M	MCM10_ENST00000378714.3_Missense_Mutation_p.L650M|MCM10_ENST00000378694.1_Missense_Mutation_p.L650M			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	651					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L651M(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGACCAAAACTGAGTGCTTT	0.502																																					p.L650M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1948A	10						.						43.0	37.0	39.0					10																	13237243		2203	4300	6503	13277249	SO:0001583	missense	55388	exon14			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1951C>A	10.37:g.13237243C>A	ENSP00000418268:p.Leu651Met	Somatic		Capture	Illumina HiSeq	Phase_I	13277249	NM_018518	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.436005	0.62955	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.33216	1.42;1.42;1.42	5.6	3.72	0.42706	Replication factor Mcm10 (1);	0.296053	0.34750	N	0.003718	T	0.45196	0.1330	L	0.54908	1.71	0.39118	D	0.961613	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75484	0.986;0.976;0.986	T	0.41787	-0.9489	10	0.44086	T	0.13	-14.8756	8.2686	0.31831	0.0:0.7119:0.0:0.2881	.	650;650;651	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	M	650;651;651;650	ENSP00000367986:L650M;ENSP00000418268:L651M;ENSP00000367966:L650M	ENSP00000354945:L651M	L	+	1	2	MCM10	13277249	0.911000	0.30947	1.000000	0.80357	0.961000	0.63080	0.143000	0.16115	1.490000	0.48466	0.650000	0.86243	CTG		0.502	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
GLRX3	10539	broad.mit.edu	37	10	131977645	131977645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:131977645G>A	ENST00000368644.1	+	11	1019	c.997G>A	c.(997-999)Gga>Aga	p.G333R	GLRX3_ENST00000496195.1_3'UTR|GLRX3_ENST00000331244.5_Missense_Mutation_p.G333R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	333	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.G333R(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TATACTGAGAGGAGAAAATTA	0.294																																					p.G333R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G997A	10						.						72.0	84.0	80.0					10																	131977645		2203	4296	6499	131867635	SO:0001583	missense	10539	exon11			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.997G>A	10.37:g.131977645G>A	ENSP00000357633:p.Gly333Arg	Somatic		Capture	Illumina HiSeq	Phase_I	131867635	NM_001199868	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991522	0.54041	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.10005	2.92;2.92	4.75	4.75	0.60458	Glutaredoxin (1);	0.069613	0.56097	D	0.000029	T	0.11367	0.0277	M	0.62209	1.925	0.54753	D	0.999989	P	0.41393	0.748	B	0.24701	0.055	T	0.09618	-1.0666	10	0.46703	T	0.11	-21.813	16.5019	0.84259	0.0:0.0:1.0:0.0	.	333	O76003	GLRX3_HUMAN	R	333	ENSP00000330836:G333R;ENSP00000357633:G333R	ENSP00000330836:G333R	G	+	1	0	GLRX3	131867635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.786000	0.62425	2.477000	0.83638	0.655000	0.94253	GGA		0.294	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541	
UCMA	221044	broad.mit.edu	37	10	13271630	13271630	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13271630G>A	ENST00000378681.3	-	4	372	c.300C>T	c.(298-300)ttC>ttT	p.F100F	UCMA_ENST00000463405.2_Silent_p.F78F	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	100					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)		p.F100F(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTTCCTCCACGAAGTTCTCAA	0.463																																					p.F100F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	10						.						190.0	166.0	174.0					10																	13271630		2203	4300	6503	13311636	SO:0001819	synonymous_variant	221044	exon4			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.300C>T	10.37:g.13271630G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13311636	NM_145314		Silent	SNP	ENST00000378681.3	37	CCDS31147.1																																																																																				0.463	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314	
TCERG1L	256536	broad.mit.edu	37	10	132944831	132944831	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:132944831C>T	ENST00000368642.4	-	7	1212	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	376								p.R335H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GAGGTCTCCGCGGTCCTTCAG	0.542																																					p.R376H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127A	10						.						122.0	111.0	115.0					10																	132944831		2203	4300	6503	132834821	SO:0001583	missense	256536	exon7			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1127G>A	10.37:g.132944831C>T	ENSP00000357631:p.Arg376His	Somatic		Capture	Illumina HiSeq	Phase_I	132834821	NM_174937	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	32	5.109298	0.94292	.	.	ENSG00000176769	ENST00000368642	T	0.26810	1.71	4.83	4.83	0.62350	WW/Rsp5/WWP (1);	0.000000	0.64402	D	0.000003	T	0.30355	0.0762	M	0.77616	2.38	0.80722	D	1	D	0.54047	0.964	B	0.35607	0.206	T	0.48293	-0.9048	10	0.87932	D	0	-7.334	17.2993	0.87177	0.0:1.0:0.0:0.0	.	376	Q5VWI1	TCRGL_HUMAN	H	376	ENSP00000357631:R376H	ENSP00000357631:R376H	R	-	2	0	TCERG1L	132834821	1.000000	0.71417	0.978000	0.43139	0.903000	0.53119	5.540000	0.67205	2.392000	0.81423	0.467000	0.42956	CGC		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	
PPP2R2D	55844	broad.mit.edu	37	10	133761220	133761220	+	Missense_Mutation	SNP	G	G	A	rs193198132		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:133761220G>A	ENST00000422256.2	+	7	807	c.322G>A	c.(322-324)Gca>Aca	p.A108T	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R305H(1)|p.R109H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GAGTACCTGCGCAGCAAGCTC	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18994	0.0		0.0	False		,,,				2504	0.0				p.A303A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G909A	10						.						76.0	79.0	78.0					10																	133761220		2064	4212	6276	133611210	SO:0001583	missense	55844	exon6			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.322G>A	10.37:g.133761220G>A	ENSP00000406501:p.Ala108Thr	Somatic		Capture	Illumina HiSeq	Phase_I	133611210	NM_018461	A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	19.42|19.42	3.824986|3.824986	0.71143|0.71143	.|.	.|.	ENSG00000175470|ENSG00000175470	ENST00000422256|ENST00000455566	.|T	.|0.36340	.|1.26	3.49|3.49	3.49|3.49	0.39957|0.39957	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.062086	.|0.64402	.|D	.|0.000003	T|T	0.57548|0.57548	0.2061|0.2061	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999983|0.999983	.|D	.|0.89917	.|1.0	.|D	.|0.71870	.|0.975	T|T	0.53012|0.53012	-0.8498|-0.8498	5|9	0.87932|0.87932	D|D	0|0	-17.144|-17.144	15.1625|15.1625	0.72795|0.72795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|336	.|Q66LE6	.|2ABD_HUMAN	T|H	108|305	.|ENSP00000399970:R305H	ENSP00000406501:A108T|ENSP00000399970:R305H	A|R	+|+	1|2	0|0	PPP2R2D|PPP2R2D	133611210|133611210	0.990000|0.990000	0.36364|0.36364	0.078000|0.078000	0.20375|0.20375	0.528000|0.528000	0.34623|0.34623	5.745000|5.745000	0.68672|0.68672	1.967000|1.967000	0.57214|0.57214	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.562	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461	
INPP5A	3632	broad.mit.edu	37	10	134463923	134463923	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:134463923G>T	ENST00000368594.3	+	4	497	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	INPP5A_ENST00000368593.3_Splice_Site_p.E74*	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	74					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.E74*(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCCTTCCAGAGAACTATTGTC	0.493																																					p.E74X	Pancreas(63;823 1267 11107 20380 51626)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G220T	10						.						232.0	242.0	238.0					10																	134463923		2203	4300	6503	134313913	SO:0001630	splice_region_variant	3632	exon4			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.219-1G>T	10.37:g.134463923G>T		Somatic		Capture	Illumina HiSeq	Phase_I	134313913	NM_005539	D3DXI3|Q14640|Q5JSF1	Nonsense_Mutation	SNP	ENST00000368594.3	37	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.95|19.95	3.921301|3.921301	0.73213|0.73213	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000368595;ENST00000451873|ENST00000342652	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.176360|.	0.49916|.	D|.	0.000125|.	.|T	.|0.73869	.|0.3642	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73701	.|-0.3900	.|3	0.06099|.	T|.	0.92|.	-5.35|-5.35	18.122|18.122	0.89574|0.89574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	74;74;74;74;70|45	.|.	ENSP00000357582:E74X|.	E|R	+|+	1|2	0|0	INPP5A|INPP5A	134313913|134313913	1.000000|1.000000	0.71417|0.71417	0.607000|0.607000	0.28956|0.28956	0.293000|0.293000	0.27360|0.27360	8.832000|8.832000	0.92079|0.92079	2.274000|2.274000	0.75844|0.75844	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.493	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	Nonsense_Mutation
ECHS1	1892	broad.mit.edu	37	10	135178224	135178224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:135178224C>A	ENST00000368547.3	-	7	1100	c.745G>T	c.(745-747)Gaa>Taa	p.E249*		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	249					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)	p.E249*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AATGTCATTTCAAAAGCTGAA	0.413																																					p.E249X	GBM(132;1720 1771 5373 10277 21402)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G745T	10						.						106.0	99.0	102.0					10																	135178224		2201	4300	6501	135028214	SO:0001587	stop_gained	1892	exon7				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.745G>T	10.37:g.135178224C>A	ENSP00000357535:p.Glu249*	Somatic		Capture	Illumina HiSeq	Phase_I	135028214	NM_004092	O00739|Q5VWY1|Q96H54	Nonsense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	c	37	6.406423	0.97542	.	.	ENSG00000127884	ENST00000368547	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	249	.	ENSP00000357535:E249X	E	-	1	0	ECHS1	135028214	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.274000	0.72587	2.658000	0.90341	0.550000	0.68814	GAA		0.413	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
TUBB8	347688	broad.mit.edu	37	10	93719	93719	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93719C>T	ENST00000309812.4	-	4	675	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	TUBB8_ENST00000447903.2_Missense_Mutation_p.E133K|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537																																					p.E205K	Pancreas(192;2041 3010 9013 18103)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	10						.						95.0	88.0	90.0					10																	93719		2203	4299	6502	83719	SO:0001583	missense	347688	exon4			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.613G>A	10.37:g.93719C>T	ENSP00000311042:p.Glu205Lys	Somatic		Capture	Illumina HiSeq	Phase_I	83719	NM_177987	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992271	0.18966	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70631	-0.5	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000009	T	0.79684	0.4488	M	0.93638	3.44	0.36203	D	0.850831	P;P	0.48834	0.796;0.916	B;P	0.51550	0.14;0.673	T	0.80759	-0.1239	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	168;205	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	K	133;171;168;205	ENSP00000403895:E133K	ENSP00000272035:E171K	E	-	1	0	RP11-631M21.2	83719	1.000000	0.71417	0.037000	0.18230	0.038000	0.13279	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GAA		0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987	
ZMYND11	10771	broad.mit.edu	37	10	288048	288048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:288048G>A	ENST00000397962.3	+	10	1347	c.919G>A	c.(919-921)Gac>Aac	p.D307N	ZMYND11_ENST00000558098.2_Missense_Mutation_p.D307N|ZMYND11_ENST00000381604.4_Missense_Mutation_p.D267N|ZMYND11_ENST00000381607.4_Missense_Mutation_p.D213N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.D290N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.D307N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.D187N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.D222N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.D227N|ZMYND11_ENST00000535374.1_Missense_Mutation_p.D102N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.D222N|ZMYND11_ENST00000309776.4_Missense_Mutation_p.D267N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.D267N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.D306N|ZMYND11_ENST00000402736.1_Missense_Mutation_p.D276N			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	307	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D267N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAATCAAGTCGACGTTCGCTT	0.423																																					p.D306N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	10						.						164.0	154.0	157.0					10																	288048		2203	4300	6503	278048	SO:0001583	missense	10771	exon10			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.919G>A	10.37:g.288048G>A	ENSP00000381053:p.Asp307Asn	Somatic		Capture	Illumina HiSeq	Phase_I	278048	NM_212479	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	36	5.891647	0.97074	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	6.16	6.16	0.99307	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	L	0.50333	1.59	0.45634	D	0.998567	D;D;P;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.886;0.886;1.0;0.999;1.0;1.0;1.0;1.0	D;D;P;P;D;D;D;D;D;D	0.97110	1.0;0.998;0.833;0.895;1.0;0.993;1.0;0.999;0.999;1.0	T	0.75144	-0.3421	9	0.39692	T	0.17	-32.3885	20.8598	0.99761	0.0:0.0:1.0:0.0	.	267;307;222;252;307;227;236;253;253;276	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	N	307;267;267;307;222;307;227;213;276;267;290;187;102	ENSP00000381053:D307N;ENSP00000309992:D267N;ENSP00000371015:D267N;ENSP00000381050:D222N;ENSP00000371003:D307N;ENSP00000385484:D227N;ENSP00000371020:D213N;ENSP00000386010:D276N;ENSP00000371017:D267N;ENSP00000370996:D290N;ENSP00000438461:D187N;ENSP00000439587:D102N	ENSP00000309992:D267N	D	+	1	0	ZMYND11	278048	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAC		0.423	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624	
IDI1	3422	broad.mit.edu	37	10	1090115	1090115	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:1090115A>C	ENST00000381344.3	-	2	307				IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_Intron|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1						cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)	p.?(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TAGAACACTAATATTAAAGGA	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						85.0	78.0	80.0					10																	1090115		2203	4300	6503	1080115	SO:0001627	intron_variant	3422	.			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.141-4T>G	10.37:g.1090115A>C		Somatic		Capture	Illumina HiSeq	Phase_I	1080115	.	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Intron	SNP	ENST00000381344.3	37	CCDS7056.1																																																																																				0.373	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508	
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGTAATATTCGACACAGTGG	0.448																																					p.F139F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	10						.						139.0	118.0	125.0					10																	5247767		2203	4300	6503	5237767	SO:0001819	synonymous_variant	1109	exon4			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.417C>T	10.37:g.5247767C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5237767	NM_001818	Q5T6A3|Q8WW84|Q9NS54	Silent	SNP	ENST00000380448.1	37	CCDS7064.1																																																																																				0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	
TUBAL3	79861	broad.mit.edu	37	10	5436206	5436206	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5436206C>T	ENST00000380419.3	-	4	652	c.615G>A	c.(613-615)acG>acA	p.T205T	TUBAL3_ENST00000479328.1_Silent_p.T165T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	205					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T205T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AGGTACAGTCCGTGTGCTCTG	0.532																																					p.T165T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G495A	10						.						131.0	110.0	117.0					10																	5436206		2203	4300	6503	5426206	SO:0001819	synonymous_variant	79861	exon4			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.615G>A	10.37:g.5436206C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5426206	NM_001171864	B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	CCDS7066.2																																																																																				0.532	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803	
TUBAL3	79861	broad.mit.edu	37	10	5436333	5436333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5436333C>T	ENST00000380419.3	-	4	525	c.488G>A	c.(487-489)aGg>aAg	p.R163K	TUBAL3_ENST00000479328.1_Missense_Mutation_p.R123K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	163					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R163K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCCTGTGAGCCTCTCCATTAA	0.498																																					p.R123K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	10						.						72.0	75.0	74.0					10																	5436333		2203	4300	6503	5426333	SO:0001583	missense	79861	exon4			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.488G>A	10.37:g.5436333C>T	ENSP00000369784:p.Arg163Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5426333	NM_001171864	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292109	0.23564	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70516	-0.49;-0.49	4.41	-4.93	0.03066	Tubulin/FtsZ, GTPase domain (4);	1.266650	0.05589	N	0.574417	T	0.53110	0.1776	N	0.08118	0	0.27827	N	0.941587	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.41875	-0.9484	10	0.87932	D	0	.	16.9572	0.86262	0.0:0.7736:0.0:0.2264	.	123;163	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	K	163;123	ENSP00000369784:R163K;ENSP00000418799:R123K	ENSP00000369784:R163K	R	-	2	0	TUBAL3	5426333	0.000000	0.05858	0.051000	0.19133	0.070000	0.16714	-0.112000	0.10791	-1.072000	0.03141	0.650000	0.86243	AGG		0.498	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803	
NET1	10276	broad.mit.edu	37	10	5488793	5488793	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5488793T>C	ENST00000355029.4	+	4	397				NET1_ENST00000542715.1_Intron|NET1_ENST00000380359.3_Missense_Mutation_p.V22A	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V22A(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GTCCTAGATGTCAATAACCAG	0.403																																					p.V22A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T65C	10						.						138.0	131.0	133.0					10																	5488793		2203	4300	6503	5478793	SO:0001627	intron_variant	10276	exon1			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.256-5000T>C	10.37:g.5488793T>C		Somatic		Capture	Illumina HiSeq	Phase_I	5478793	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	T	8.113	0.779279	0.16120	.	.	ENSG00000173848	ENST00000449083;ENST00000380359;ENST00000380337	T;T	0.63255	-0.03;2.78	5.8	3.42	0.39159	.	.	.	.	.	T	0.39064	0.1064	N	0.25144	0.715	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11494	-1.0585	9	0.07325	T	0.83	.	5.7166	0.17964	0.0:0.1518:0.1451:0.703	.	22	Q5SQI7	.	A	22	ENSP00000403101:V22A;ENSP00000369717:V22A	ENSP00000369694:V22A	V	+	2	0	NET1	5478793	0.084000	0.21492	0.475000	0.27278	0.837000	0.47467	0.484000	0.22308	0.446000	0.26666	0.377000	0.23210	GTC		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	
FAM208B	54906	broad.mit.edu	37	10	5803317	5803317	+	Missense_Mutation	SNP	G	G	A	rs368195651	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5803317G>A	ENST00000328090.5	+	19	7682	c.7057G>A	c.(7057-7059)Gaa>Aaa	p.E2353K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2353								p.E2353K(1)|p.E2353Q(1)									AAATATCATTGAATTGCTTCA	0.338																																					p.E2353K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G7057A	10						.						120.0	113.0	115.0					10																	5803317		1882	4114	5996	5843323	SO:0001583	missense	54906	exon19			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7057G>A	10.37:g.5803317G>A	ENSP00000328426:p.Glu2353Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5843323	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272464	0.80580	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.61980	0.06	6.06	6.06	0.98353	.	0.174016	0.40640	N	0.001046	T	0.80491	0.4633	M	0.80183	2.485	0.40957	D	0.984595	D	0.65815	0.995	D	0.63381	0.914	T	0.81988	-0.0680	10	0.87932	D	0	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	2353	Q5VWN6	F208B_HUMAN	K	2353;1548	ENSP00000328426:E2353K	ENSP00000328426:E2353K	E	+	1	0	C10orf18	5843323	1.000000	0.71417	0.870000	0.34147	0.249000	0.25844	7.723000	0.84788	2.879000	0.98667	0.650000	0.86243	GAA		0.338	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FBXO18	84893	broad.mit.edu	37	10	5952926	5952926	+	Missense_Mutation	SNP	C	C	T	rs374655960		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5952926C>T	ENST00000362091.4	+	6	1161	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.A400V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	349					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A400V(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCCTGGTGGCGGCTGTGGTG	0.607																																					p.A349V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046T	10						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	57.0	57.0		1199,1046	5.4	1.0	10		57	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	400/1095,349/1044	5952926	2,13004	2203	4300	6503	5992932	SO:0001583	missense	84893	exon6			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1046C>T	10.37:g.5952926C>T	ENSP00000355415:p.Ala349Val	Somatic		Capture	Illumina HiSeq	Phase_I	5992932	NM_178150	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039035	0.93630	0.0	2.33E-4	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.36	5.36	0.76844	.	0.154543	0.56097	D	0.000023	T	0.71904	0.3395	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.993	P;P;P	0.55508	0.75;0.777;0.567	T	0.74475	-0.3653	9	0.72032	D	0.01	-11.0637	19.0611	0.93093	0.0:1.0:0.0:0.0	.	400;349;275	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	V	349;86;400;86	.	ENSP00000355415:A349V	A	+	2	0	FBXO18	5992932	1.000000	0.71417	0.978000	0.43139	0.592000	0.36648	4.780000	0.62382	2.672000	0.90937	0.555000	0.69702	GCG		0.607	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
FBXO18	84893	broad.mit.edu	37	10	5969473	5969473	+	Missense_Mutation	SNP	A	A	C	rs182156474		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5969473A>C	ENST00000362091.4	+	19	2913	c.2798A>C	c.(2797-2799)aAa>aCa	p.K933T	FBXO18_ENST00000397269.3_Missense_Mutation_p.K437T|FBXO18_ENST00000379999.5_Missense_Mutation_p.K984T	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	933					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.K984T(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATCATGACCAAATCATTGGAA	0.408																																					p.K933T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2798C	10						.						136.0	121.0	126.0					10																	5969473		2203	4300	6503	6009479	SO:0001583	missense	84893	exon19			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2798A>C	10.37:g.5969473A>C	ENSP00000355415:p.Lys933Thr	Somatic		Capture	Illumina HiSeq	Phase_I	6009479	NM_178150	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810921	0.70797	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	T;T;T	0.81330	-1.48;-1.48;-1.48	5.45	4.32	0.51571	.	0.202812	0.49916	D	0.000132	T	0.72078	0.3416	N	0.11131	0.1	0.48135	D	0.999597	P;P;P	0.43885	0.73;0.82;0.571	P;P;P	0.51135	0.557;0.66;0.464	T	0.72080	-0.4398	10	0.45353	T	0.12	-7.4179	9.8169	0.40858	0.915:0.0:0.085:0.0	.	984;933;859	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	T	437;933;984	ENSP00000380439:K437T;ENSP00000355415:K933T;ENSP00000369335:K984T	ENSP00000355415:K933T	K	+	2	0	FBXO18	6009479	1.000000	0.71417	0.887000	0.34795	0.792000	0.44763	5.625000	0.67770	0.903000	0.36546	0.451000	0.29950	AAA		0.408	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
IL2RA	3559	broad.mit.edu	37	10	6061878	6061878	+	Missense_Mutation	SNP	C	C	T	rs370516220		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:6061878C>T	ENST00000379959.3	-	5	783	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	IL2RA_ENST00000256876.6_Missense_Mutation_p.E195K|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.E132K	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	204					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.E204K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACGGCCTTCGGGGCTTGCC	0.602																																					p.E204K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	10						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	113.0	101.0	105.0		610	2.7	0.0	10		105	0,8600		0,0,4300	no	missense	IL2RA	NM_000417.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	204/273	6061878	1,13005	2203	4300	6503	6101884	SO:0001583	missense	3559	exon5			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.610G>A	10.37:g.6061878C>T	ENSP00000369293:p.Glu204Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6101884	NM_000417	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905461	0.33628	2.27E-4	0.0	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	T;T;T	0.45276	1.55;0.9;1.55	3.59	2.69	0.31865	.	0.950528	0.08714	N	0.904493	T	0.20536	0.0494	N	0.19112	0.55	0.09310	N	1	P;B	0.48998	0.918;0.082	B;B	0.33454	0.164;0.007	T	0.03818	-1.1001	10	0.17832	T	0.49	-27.0811	6.7393	0.23426	0.0:0.8719:0.0:0.1281	.	132;204	Q5W005;P01589	.;IL2RA_HUMAN	K	204;132;195	ENSP00000369293:E204K;ENSP00000369287:E132K;ENSP00000256876:E195K	ENSP00000256876:E195K	E	-	1	0	IL2RA	6101884	0.001000	0.12720	0.012000	0.15200	0.052000	0.14988	0.748000	0.26305	1.078000	0.41014	0.491000	0.48974	GAA		0.602	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
SFMBT2	57713	broad.mit.edu	37	10	7244447	7244447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:7244447C>A	ENST00000361972.4	-	13	1572	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D	SFMBT2_ENST00000397167.1_Missense_Mutation_p.E494D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	494					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.E494D(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGTACTGTTTCTCTGGTTGCA	0.403																																					p.E494D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1482T	10						.						168.0	141.0	150.0					10																	7244447		2203	4300	6503	7284453	SO:0001583	missense	57713	exon13			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1482G>T	10.37:g.7244447C>A	ENSP00000355109:p.Glu494Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7284453	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983671	0.53827	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.46451	0.87;0.87	5.53	3.23	0.37069	.	2.415260	0.01172	N	0.006892	T	0.64494	0.2603	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.40021	-0.9585	10	0.28530	T	0.3	.	7.4479	0.27221	0.0:0.2438:0.0:0.7562	.	494	Q5VUG0	SMBT2_HUMAN	D	494	ENSP00000355109:E494D;ENSP00000380353:E494D	ENSP00000355109:E494D	E	-	3	2	SFMBT2	7284453	0.997000	0.39634	1.000000	0.80357	0.637000	0.38172	0.310000	0.19356	0.406000	0.25560	-0.302000	0.09304	GAG		0.403	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
SFMBT2	57713	broad.mit.edu	37	10	7285548	7285548	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:7285548T>G	ENST00000361972.4	-	9	1182	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	364					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.K364N(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGACTCCATTTTTAAGGCACC	0.448																																					p.K364N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1092C	10						.						94.0	89.0	91.0					10																	7285548		2203	4300	6503	7325554	SO:0001583	missense	57713	exon9			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1092A>C	10.37:g.7285548T>G	ENSP00000355109:p.Lys364Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7325554	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140990	0.77775	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.32988	1.43;1.43	5.3	4.17	0.49024	.	0.043715	0.85682	D	0.000000	T	0.51907	0.1702	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51505	-0.8697	10	0.52906	T	0.07	.	10.9561	0.47358	0.0:0.0731:0.0:0.9269	.	364	Q5VUG0	SMBT2_HUMAN	N	364	ENSP00000355109:K364N;ENSP00000380353:K364N	ENSP00000355109:K364N	K	-	3	2	SFMBT2	7325554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.663000	0.46774	0.978000	0.38470	0.533000	0.62120	AAA		0.448	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
TAF3	83860	broad.mit.edu	37	10	8006647	8006647	+	Missense_Mutation	SNP	G	G	A	rs369419155		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:8006647G>A	ENST00000344293.5	+	3	1380	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	392					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.D392N(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGCCTCTATCGATGCTGTGAT	0.468																																					p.D392N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1174A	10						.	G	ASN/ASP	2,3812		0,2,1905	75.0	73.0	74.0		1174	3.5	0.7	10		74	0,8270		0,0,4135	no	missense	TAF3	NM_031923.2	23	0,2,6040	AA,AG,GG		0.0,0.0524,0.0166	benign	392/930	8006647	2,12082	1907	4135	6042	8046653	SO:0001583	missense	83860	exon3			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1174G>A	10.37:g.8006647G>A	ENSP00000340271:p.Asp392Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8046653	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148807	0.37923	5.24E-4	0.0	ENSG00000165632	ENST00000344293	T	0.25250	1.81	5.4	3.5	0.40072	.	0.077803	0.52532	N	0.000066	T	0.23806	0.0576	L	0.53249	1.67	0.44030	D	0.99675	B	0.16802	0.019	B	0.10450	0.005	T	0.03483	-1.1032	10	0.31617	T	0.26	-19.3408	10.9686	0.47426	0.1563:0.0:0.8437:0.0	.	392	Q5VWG9	TAF3_HUMAN	N	392	ENSP00000340271:D392N	ENSP00000340271:D392N	D	+	1	0	TAF3	8046653	1.000000	0.71417	0.655000	0.29622	0.692000	0.40212	4.996000	0.63914	0.618000	0.30179	0.650000	0.86243	GAT		0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
GATA3	2625	broad.mit.edu	37	10	8100470	8100470	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:8100470G>A	ENST00000346208.3	+	3	899	c.444G>A	c.(442-444)ccG>ccA	p.P148P	GATA3_ENST00000379328.3_Silent_p.P148P|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	148					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P148P(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACGCCAGCCCGCACCTCTTCA	0.731			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.P148P			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	10						.																																			8140476	SO:0001819	synonymous_variant	2625	exon3			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.444G>A	10.37:g.8100470G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8140476	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.731	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
UPF2	26019	broad.mit.edu	37	10	12077048	12077048	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:12077048A>G	ENST00000356352.2	-	1	839				UPF2_ENST00000357604.5_Intron|UPF2_ENST00000460569.1_5'Flank|UPF2_ENST00000397053.2_Intron			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.?(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATACAATCAACTGCCTTACT	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						202.0	192.0	195.0					10																	12077048		2203	4300	6503	12117054	SO:0001627	intron_variant	26019	.			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.365+9T>C	10.37:g.12077048A>G		Somatic		Capture	Illumina HiSeq	Phase_I	12117054	.	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Intron	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																				0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
BEND7	222389	broad.mit.edu	37	10	13542064	13542064	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13542064T>G	ENST00000396900.2	-	3	161	c.162A>C	c.(160-162)gaA>gaC	p.E54D	BEND7_ENST00000378605.3_Missense_Mutation_p.E2D|BEND7_ENST00000396898.2_Missense_Mutation_p.E54D|BEND7_ENST00000341083.3_Missense_Mutation_p.E2D			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	54						extracellular vesicular exosome (GO:0070062)		p.E2D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCTTTTTTATTTCCATGCTTT	0.393																																					p.E2D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6C	10						.						99.0	101.0	101.0					10																	13542064		2203	4300	6503	13582070	SO:0001583	missense	222389	exon3			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.162A>C	10.37:g.13542064T>G	ENSP00000380108:p.Glu54Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13582070	NM_152751	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	T	20.8	4.052202	0.75960	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.62788	0.0;0.03;0.1;0.12	5.63	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.63843	1.955	0.40822	D	0.983511	D;D	0.67145	0.994;0.996	D;D	0.76071	0.97;0.987	T	0.77191	-0.2678	10	0.87932	D	0	-25.7473	11.7106	0.51623	0.0:0.0691:0.0:0.9309	.	54;2	E5RFC0;Q8N7W2-3	.;.	D	54;2;54;2	ENSP00000380108:E54D;ENSP00000345773:E2D;ENSP00000380107:E54D;ENSP00000367868:E2D	ENSP00000345773:E2D	E	-	3	2	BEND7	13582070	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.774000	0.47694	0.988000	0.38734	-0.280000	0.10049	GAA		0.393	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751	
PRPF18	8559	broad.mit.edu	37	10	13642302	13642302	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13642302T>G	ENST00000378572.3	+	3	363	c.203T>G	c.(202-204)cTt>cGt	p.L68R		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	68					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)	p.L68R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GTGTTAGAACTTGAACTGGCA	0.353																																					p.L68R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T203G	10						.						101.0	99.0	99.0					10																	13642302		2203	4300	6503	13682308	SO:0001583	missense	8559	exon3			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.203T>G	10.37:g.13642302T>G	ENSP00000367835:p.Leu68Arg	Somatic		Capture	Illumina HiSeq	Phase_I	13682308	NM_003675	Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336334	0.60963	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	6.06	6.06	0.98353	.	0.058480	0.64402	D	0.000002	T	0.58018	0.2093	L	0.56769	1.78	0.58432	D	0.999991	B	0.13145	0.007	B	0.10450	0.005	T	0.54022	-0.8355	9	0.16420	T	0.52	-19.1483	15.1956	0.73084	0.0:0.0:0.0:1.0	.	68	Q99633	PRP18_HUMAN	R	68;62;53;62	.	ENSP00000367824:L53R	L	+	2	0	PRPF18	13682308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.672000	0.83956	2.323000	0.78572	0.528000	0.53228	CTT		0.353	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		
FRMD4A	55691	broad.mit.edu	37	10	13735997	13735997	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13735997C>T	ENST00000357447.2	-	15	1386	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	FRMD4A_ENST00000342409.2_Missense_Mutation_p.D356N|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D340N|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D325N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	340					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.D340N(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCGGTCAGGTCGATGGCGATC	0.577																																					p.D340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	10						.						168.0	128.0	141.0					10																	13735997		2203	4300	6503	13776003	SO:0001583	missense	55691	exon15			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1018G>A	10.37:g.13735997C>T	ENSP00000350032:p.Asp340Asn	Somatic		Capture	Illumina HiSeq	Phase_I	13776003	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123278	0.94429	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.72118	2.19	0.80722	D	1	B;P;P	0.43607	0.256;0.726;0.812	B;B;B	0.38500	0.05;0.236;0.275	D	0.86065	0.1534	10	0.66056	D	0.02	.	18.9669	0.92700	0.0:1.0:0.0:0.0	.	356;373;340	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	N	325;340;340;373;356	ENSP00000351438:D325N;ENSP00000350032:D340N;ENSP00000367764:D340N;ENSP00000264546:D373N;ENSP00000344237:D356N	ENSP00000264546:D373N	D	-	1	0	FRMD4A	13776003	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.814000	0.86154	2.478000	0.83669	0.561000	0.74099	GAC		0.577	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
FRMD4A	55691	broad.mit.edu	37	10	13803657	13803657	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13803657C>A	ENST00000357447.2	-	8	822	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	FRMD4A_ENST00000342409.2_Missense_Mutation_p.D168Y|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D152Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D137Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	152	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.D152Y(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTAGAAAAATCTCCCTTTGCC	0.333																																					p.D152Y												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G454T	10						.						105.0	108.0	107.0					10																	13803657		2203	4300	6503	13843663	SO:0001583	missense	55691	exon8			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.454G>T	10.37:g.13803657C>A	ENSP00000350032:p.Asp152Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	13843663	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618733	0.66787	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.98	4.98	0.66077	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.90595	3.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.79108	0.985;0.971;0.992	T	0.76745	-0.2846	10	0.87932	D	0	-15.1188	14.1261	0.65222	0.0:1.0:0.0:0.0	.	168;185;152	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	Y	137;152;152;185;168	ENSP00000351438:D137Y;ENSP00000350032:D152Y;ENSP00000367764:D152Y;ENSP00000264546:D185Y;ENSP00000344237:D168Y	ENSP00000264546:D185Y	D	-	1	0	FRMD4A	13843663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.333000	0.59285	2.438000	0.82558	0.655000	0.94253	GAT		0.333	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
FAM188A	80013	broad.mit.edu	37	10	15824206	15824206	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:15824206G>T	ENST00000277632.3	-	14	1356	c.1136C>A	c.(1135-1137)tCt>tAt	p.S379Y	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Missense_Mutation_p.S84Y	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	379					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S379Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACAGTAAAAGATTCTGGACC	0.323																																					p.S379Y	Pancreas(159;946 1953 2111 4475 22008)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1136A	10						.						86.0	87.0	86.0					10																	15824206		2203	4300	6503	15864212	SO:0001583	missense	80013	exon14			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.1136C>A	10.37:g.15824206G>T	ENSP00000277632:p.Ser379Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	15864212	NM_024948	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781487	0.70222	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033	T	0.32272	1.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.43798	-0.9369	10	0.51188	T	0.08	-13.8417	19.4985	0.95083	0.0:0.0:1.0:0.0	.	379	Q9H8M7	F188A_HUMAN	Y	379;84;84	ENSP00000277632:S379Y	ENSP00000277632:S379Y	S	-	2	0	FAM188A	15864212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.602000	0.87976	0.655000	0.94253	TCT		0.323	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948	
CUBN	8029	broad.mit.edu	37	10	16911652	16911652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:16911652G>T	ENST00000377833.4	-	59	9502	c.9437C>A	c.(9436-9438)tCt>tAt	p.S3146Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3146	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3146Y(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGCCGGAAAGACATCTTCCA	0.468																																					p.S3146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9437A	10						.						146.0	160.0	156.0					10																	16911652		2203	4300	6503	16951658	SO:0001583	missense	8029	exon59			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9437C>A	10.37:g.16911652G>T	ENSP00000367064:p.Ser3146Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	16951658	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	3.394	-0.123760	0.06795	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.54	-0.73	0.11154	CUB (5);	1.782020	0.03239	N	0.180074	T	0.23171	0.0560	L	0.53780	1.695	0.09310	N	0.999998	B	0.24258	0.1	B	0.24974	0.057	T	0.32929	-0.9888	10	0.24483	T	0.36	.	10.4672	0.44616	0.3834:0.0:0.6166:0.0	.	3146	O60494	CUBN_HUMAN	Y	3146	ENSP00000367064:S3146Y	ENSP00000367064:S3146Y	S	-	2	0	CUBN	16951658	0.004000	0.15560	0.001000	0.08648	0.061000	0.15899	0.866000	0.27954	-0.443000	0.07180	-0.142000	0.14014	TCT		0.468	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	16948257	16948257	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:16948257A>C	ENST00000377833.4	-	50	7922	c.7857T>G	c.(7855-7857)gaT>gaG	p.D2619E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2619	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D2619E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTAGGTAAAAATCTTCAAAGT	0.393																																					p.D2619E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7857G	10						.						95.0	94.0	94.0					10																	16948257		2203	4300	6503	16988263	SO:0001583	missense	8029	exon50			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7857T>G	10.37:g.16948257A>C	ENSP00000367064:p.Asp2619Glu	Somatic		Capture	Illumina HiSeq	Phase_I	16988263	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	5.410	0.260741	0.10239	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.58	-1.31	0.09230	CUB (5);	1.630330	0.03475	N	0.214211	T	0.09069	0.0224	N	0.21373	0.66	0.39415	D	0.966811	B	0.02656	0.0	B	0.11329	0.006	T	0.46624	-0.9178	10	0.09590	T	0.72	.	0.9876	0.01450	0.3459:0.3009:0.1383:0.215	.	2619	O60494	CUBN_HUMAN	E	2619	ENSP00000367064:D2619E	ENSP00000367064:D2619E	D	-	3	2	CUBN	16988263	0.006000	0.16342	0.006000	0.13384	0.176000	0.22953	0.145000	0.16157	0.095000	0.17434	0.491000	0.48974	GAT		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	16996542	16996542	+	Silent	SNP	G	G	A	rs113941731		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:16996542G>A	ENST00000377833.4	-	32	4766	c.4701C>T	c.(4699-4701)taC>taT	p.Y1567Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1567	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Y1567Y(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAAGCCATCGTATGCCTACA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17774	0.0		0.0	False		,,,				2504	0.0				p.Y1567Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4701T	10						.	G		2,4404	4.2+/-10.8	0,2,2201	61.0	45.0	50.0		4701	-1.0	0.1	10	dbSNP_132	50	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1567/3624	16996542	2,13004	2203	4300	6503	17036548	SO:0001819	synonymous_variant	8029	exon32			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4701C>T	10.37:g.16996542G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17036548	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	17126451	17126451	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:17126451C>T	ENST00000377833.4	-	17	2185	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	707					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R707H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCACCACAACGCAGATCCGC	0.498																																					p.R707H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2120A	10						.						59.0	48.0	52.0					10																	17126451		2203	4300	6503	17166457	SO:0001583	missense	8029	exon17			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2120G>A	10.37:g.17126451C>T	ENSP00000367064:p.Arg707His	Somatic		Capture	Illumina HiSeq	Phase_I	17166457	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902957	0.33628	.	.	ENSG00000107611	ENST00000377833	T	0.75477	-0.94	5.69	-11.4	0.00090	CUB (1);	1.859370	0.03062	N	0.156074	T	0.47116	0.1428	N	0.03608	-0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.35992	-0.9766	10	0.26408	T	0.33	.	12.8257	0.57718	0.0:0.2562:0.5636:0.1802	.	707	O60494	CUBN_HUMAN	H	707	ENSP00000367064:R707H	ENSP00000367064:R707H	R	-	2	0	CUBN	17166457	0.001000	0.12720	0.000000	0.03702	0.389000	0.30415	-0.190000	0.09615	-1.909000	0.01085	-2.798000	0.00114	CGT		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
TRDMT1	1787	broad.mit.edu	37	10	17210875	17210875	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:17210875C>A	ENST00000377799.3	-	3	263	c.216G>T	c.(214-216)atG>atT	p.M72I	TRDMT1_ENST00000351358.4_Missense_Mutation_p.M72I|TRDMT1_ENST00000412821.3_Missense_Mutation_p.M72I|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000377766.5_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	72	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.M72I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TCATTAAAATCATATCAAAAG	0.378																																					p.M72I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	10						.						72.0	70.0	71.0					10																	17210875		2203	4300	6503	17250881	SO:0001583	missense	1787	exon3			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.216G>T	10.37:g.17210875C>A	ENSP00000367030:p.Met72Ile	Somatic		Capture	Illumina HiSeq	Phase_I	17250881	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.968302|2.968302	0.53614|0.53614	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.83335	.|-1.71;-1.71;-1.71;-1.71	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.101967	.|0.85682	.|D	.|0.000000	T|T	0.75421|0.75421	0.3847|0.3847	N|N	0.26162|0.26162	0.8|0.8	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25105	.|0.118;0.095;0.01;0.006	.|B;B;B;B	.|0.26517	.|0.07;0.043;0.004;0.008	T|T	0.69363|0.69363	-0.5165|-0.5165	5|10	.|0.12103	.|T	.|0.63	-29.9339|-29.9339	19.9975|19.9975	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;72;72;72	.|B7Z1Y7;O14717-3;O14717-2;O14717	.|.;.;.;TRDMT_HUMAN	Y|I	52|72;72;72;54	.|ENSP00000367030:M72I;ENSP00000409354:M72I;ENSP00000324328:M72I;ENSP00000431476:M54I	.|ENSP00000324328:M72I	D|M	-|-	1|3	0|0	TRDMT1|TRDMT1	17250881|17250881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	4.721000|4.721000	0.61951|0.61951	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
ST8SIA6	338596	broad.mit.edu	37	10	17363213	17363213	+	Silent	SNP	G	G	A	rs141961243		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:17363213G>A	ENST00000377602.4	-	8	935	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	287					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.L287L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TAGACTCTTCGAGCGTGTAGT	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17900	0.0		0.0	False		,,,				2504	0.0				p.L287L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	10						.						142.0	149.0	147.0					10																	17363213		2203	4300	6503	17403219	SO:0001819	synonymous_variant	338596	exon8				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.861C>T	10.37:g.17363213G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17403219	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364839	0.01235	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-0.338	0.12651	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9059	13.3633	0.60669	0.0:0.4946:0.4305:0.0749	.	.	.	.	X	108	.	.	R	-	1	2	ST8SIA6	17403219	0.033000	0.19621	0.018000	0.16275	0.079000	0.17450	-0.190000	0.09615	0.118000	0.18165	-0.182000	0.12963	CGA		0.443	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
ST8SIA6	338596	broad.mit.edu	37	10	17369070	17369070	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:17369070C>T	ENST00000377602.4	-	6	652	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	193					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.G193E(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATTCAGAATTCCCCCATTTCC	0.388																																					p.G193E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	10						.						109.0	106.0	107.0					10																	17369070		2203	4300	6503	17409076	SO:0001583	missense	338596	exon6				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.578G>A	10.37:g.17369070C>T	ENSP00000366827:p.Gly193Glu	Somatic		Capture	Illumina HiSeq	Phase_I	17409076	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350637	0.82132	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.61510	0.1	4.79	3.86	0.44501	.	0.049533	0.85682	D	0.000000	D	0.82706	0.5095	H	0.96518	3.835	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.88937	0.3377	10	0.87932	D	0	-24.9959	15.3078	0.74008	0.0:0.8595:0.1405:0.0	.	193	P61647	SIA8F_HUMAN	E	23;193	ENSP00000366827:G193E	ENSP00000366827:G193E	G	-	2	0	ST8SIA6	17409076	1.000000	0.71417	0.909000	0.35828	0.995000	0.86356	6.878000	0.75567	1.328000	0.45358	0.655000	0.94253	GGA		0.388	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
SLC39A12	221074	broad.mit.edu	37	10	18270285	18270285	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:18270285G>T	ENST00000377369.2	+	6	1242	c.969G>T	c.(967-969)aaG>aaT	p.K323N	SLC39A12_ENST00000539911.1_Missense_Mutation_p.K189N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K323N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K323N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	323					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.K323N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCTACAGAAGGGCCTCTCAC	0.453																																					p.K323N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	10						.						92.0	89.0	90.0					10																	18270285		2203	4300	6503	18310291	SO:0001583	missense	221074	exon6				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.969G>T	10.37:g.18270285G>T	ENSP00000366586:p.Lys323Asn	Somatic		Capture	Illumina HiSeq	Phase_I	18310291	NM_001145195	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.832557	0.00579	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.60672	0.31;0.2;0.31;0.17	5.63	-2.87	0.05700	.	0.499150	0.24781	N	0.035653	T	0.17066	0.0410	N	0.00746	-1.225	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37384	-0.9708	10	0.02654	T	1	-3.1748	8.7593	0.34665	0.0:0.457:0.0979:0.4451	.	323;323;323	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	323;323;323;189;243	ENSP00000366586:K323N;ENSP00000366591:K323N;ENSP00000366588:K323N;ENSP00000440445:K189N	ENSP00000366586:K323N	K	+	3	2	SLC39A12	18310291	0.001000	0.12720	0.058000	0.19502	0.225000	0.24961	-1.271000	0.02828	-0.628000	0.05582	-0.165000	0.13383	AAG		0.453	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
NSUN6	221078	broad.mit.edu	37	10	18903474	18903474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:18903474C>A	ENST00000377304.4	-	5	908	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	164	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E164*(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CCATCAAATTCTTTGGCTCCT	0.343																																					p.E164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G490T	10						.						76.0	72.0	73.0					10																	18903474		2203	4300	6503	18943480	SO:0001587	stop_gained	221078	exon5			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.490G>T	10.37:g.18903474C>A	ENSP00000366519:p.Glu164*	Somatic		Capture	Illumina HiSeq	Phase_I	18943480	NM_182543	B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	c	40	7.995499	0.98602	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.09	4.19	0.49359	.	0.224065	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.0973	0.65032	0.0:0.9269:0.0:0.0731	.	.	.	.	X	164	.	ENSP00000366519:E164X	E	-	1	0	NSUN6	18943480	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.779000	0.55379	1.288000	0.44600	-0.119000	0.15052	GAA		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543	
PLXDC2	84898	broad.mit.edu	37	10	20506370	20506370	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:20506370T>C	ENST00000377252.4	+	11	1979	c.1138T>C	c.(1138-1140)Tgt>Cgt	p.C380R	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.C331R	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	380					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C380R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGAGAAGATGTGTGAGAATAC	0.418																																					p.C380R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1138C	10						.						71.0	67.0	68.0					10																	20506370		2203	4300	6503	20546376	SO:0001583	missense	84898	exon11			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1138T>C	10.37:g.20506370T>C	ENSP00000366460:p.Cys380Arg	Somatic		Capture	Illumina HiSeq	Phase_I	20546376	NM_032812	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287019	0.59867	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.75821	-0.97;-0.97	5.55	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.968	T	0.81972	-0.0688	10	0.34782	T	0.22	.	10.667	0.45736	0.0:0.0:0.1595:0.8405	.	331;380	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	R	380;331;243;366	ENSP00000366460:C380R;ENSP00000366450:C331R	ENSP00000366446:C243R	C	+	1	0	PLXDC2	20546376	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.122000	0.64697	2.128000	0.65567	0.460000	0.39030	TGT		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
SKIDA1	387640	broad.mit.edu	37	10	21804851	21804851	+	Missense_Mutation	SNP	T	T	C	rs192189211	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:21804851T>C	ENST00000449193.2	-	4	4153	c.1901A>G	c.(1900-1902)aAa>aGa	p.K634R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K555R	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	553						nucleus (GO:0005634)		p.K634R(2)									TTTGGAATATTTTTCTGAATT	0.423																																					p.K634R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1901G	10						.						70.0	69.0	69.0					10																	21804851		1855	4106	5961	21844857	SO:0001583	missense	387640	exon4			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1901A>G	10.37:g.21804851T>C	ENSP00000410041:p.Lys634Arg	Somatic		Capture	Illumina HiSeq	Phase_I	21844857	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752649	0.31046	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.76	4.64	0.57946	.	0.456475	0.23060	N	0.052391	T	0.29749	0.0743	L	0.29908	0.895	0.27355	N	0.956126	B	0.23128	0.08	B	0.16289	0.015	T	0.13953	-1.0490	9	0.30078	T	0.28	-9.1755	10.9424	0.47281	0.0:0.0727:0.0:0.9273	.	634	E9PAX1	.	R	634;555	.	ENSP00000442432:K555R	K	-	2	0	C10orf140	21844857	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.672000	0.46850	1.029000	0.39812	0.524000	0.50904	AAA		0.423	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
MLLT10	8028	broad.mit.edu	37	10	21959473	21959473	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:21959473C>A	ENST00000307729.7	+	10	1069	c.891C>A	c.(889-891)gtC>gtA	p.V297V	MLLT10_ENST00000377072.3_Silent_p.V297V|MLLT10_ENST00000446906.2_Silent_p.V297V|MLLT10_ENST00000377059.3_Silent_p.V297V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	297					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V297V(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCCAGGAAGTCTCTGCACACA	0.433			T	"""MLL, PICALM, CDK6"""	AL																																p.V297V			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891A	10						.						69.0	66.0	67.0					10																	21959473		2203	4300	6503	21999479	SO:0001819	synonymous_variant	8028	exon9			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.891C>A	10.37:g.21959473C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21999479	NM_001195626	B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	CCDS55708.1																																																																																				0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		
MLLT10	8028	broad.mit.edu	37	10	21962635	21962635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:21962635G>T	ENST00000307729.7	+	11	1586	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	MLLT10_ENST00000377072.3_Nonsense_Mutation_p.G470*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.G470*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.G470*			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	470	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G470*(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAAAGGAAAGGAAATAAACA	0.413			T	"""MLL, PICALM, CDK6"""	AL																																p.G470X			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1408T	10						.						94.0	101.0	99.0					10																	21962635		2203	4300	6503	22002641	SO:0001587	stop_gained	8028	exon10			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1408G>T	10.37:g.21962635G>T	ENSP00000307411:p.Gly470*	Somatic		Capture	Illumina HiSeq	Phase_I	22002641	NM_001195626	B1ANA8|Q5JT37|Q5VX90|Q66K63	Nonsense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.108822|10.108822	0.99338|0.99338	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.107626|.	0.64402|.	D|.	0.000006|.	.|T	.|0.81616	.|0.4860	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83923	.|0.0302	.|4	0.87932|0.87932	D|D	0|0	.|.	19.076|19.076	0.93161|0.93161	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	470;470;470;316;470;113;112|43	.|.	ENSP00000307411:G470X|ENSP00000399883:K43N	G|K	+|+	1|3	0|2	MLLT10|MLLT10	22002641|22002641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.562000|7.562000	0.82300|0.82300	2.530000|2.530000	0.85305|0.85305	0.585000|0.585000	0.79938|0.79938	GGA|AAG		0.413	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		
SPAG6	9576	broad.mit.edu	37	10	22657425	22657425	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:22657425G>A	ENST00000376624.3	+	4	432	c.290G>A	c.(289-291)cGc>cAc	p.R97H	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Splice_Site_p.R72H|SPAG6_ENST00000376603.2_Splice_Site_p.R173H|SPAG6_ENST00000313311.6_Splice_Site_p.R97H|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	97					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R97H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCCTTGTAGCGCTTCTACAAG	0.383																																					p.R97H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	10						.						83.0	78.0	80.0					10																	22657425		2203	4300	6503	22697431	SO:0001630	splice_region_variant	9576	exon4			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.289-1G>A	10.37:g.22657425G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22697431	NM_172242	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701926	0.48307	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;0.71	5.7	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.186075	0.64402	N	0.000020	T	0.80182	0.4576	M	0.91717	3.235	0.58432	D	0.999999	P;D;D;P	0.67145	0.488;0.962;0.996;0.666	B;B;P;B	0.57846	0.18;0.348;0.828;0.116	D	0.85183	0.1005	10	0.72032	D	0.01	-7.8326	14.5198	0.67842	0.0703:0.0:0.9297:0.0	.	72;173;97;97	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	H	97;173;72;97;173	ENSP00000365811:R97H;ENSP00000365788:R173H;ENSP00000441325:R72H;ENSP00000323599:R97H;ENSP00000406594:R173H	ENSP00000323599:R97H	R	+	2	0	SPAG6	22697431	1.000000	0.71417	0.506000	0.27664	0.211000	0.24417	5.379000	0.66196	1.401000	0.46761	0.655000	0.94253	CGC		0.383	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		Missense_Mutation
SPAG6	9576	broad.mit.edu	37	10	22699984	22699984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:22699984C>T	ENST00000376624.3	+	10	1481	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SPAG6_ENST00000376603.2_Nonsense_Mutation_p.R523*|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Nonsense_Mutation_p.R422*|SPAG6_ENST00000376601.1_Nonsense_Mutation_p.R208*|RP11-301N24.3_ENST00000422675.1_RNA	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	447					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R447*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TAGCAAAGCTCGACGACTTTT	0.368																																					p.R447X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1339T	10						.						71.0	70.0	71.0					10																	22699984		2203	4300	6503	22739990	SO:0001587	stop_gained	9576	exon10			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1339C>T	10.37:g.22699984C>T	ENSP00000365811:p.Arg447*	Somatic		Capture	Illumina HiSeq	Phase_I	22739990	NM_012443	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Nonsense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	37	6.443918	0.97572	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	.	.	.	5.97	5.97	0.96955	.	0.109676	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7083	13.7801	0.63077	0.2679:0.7321:0.0:0.0	.	.	.	.	X	447;523;208;422	.	ENSP00000365786:R208X	R	+	1	2	SPAG6	22739990	0.992000	0.36948	0.875000	0.34327	0.892000	0.51952	2.966000	0.49208	2.835000	0.97688	0.591000	0.81541	CGA		0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
PIP4K2A	5305	broad.mit.edu	37	10	23003181	23003181	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:23003181C>T	ENST00000376573.4	-	1	303	c.75G>A	c.(73-75)gcG>gcA	p.A25A	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	25					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.A25A(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCACTTTCTGCGCTACGAAGT	0.642																																					p.A25A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	10						.						91.0	82.0	85.0					10																	23003181		2203	4300	6503	23043187	SO:0001819	synonymous_variant	5305	exon1			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.75G>A	10.37:g.23003181C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23043187	NM_005028	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	CCDS7141.1																																																																																				0.642	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	
ARMC3	219681	broad.mit.edu	37	10	23326244	23326244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:23326244G>A	ENST00000298032.5	+	19	2539	c.2455G>A	c.(2455-2457)Gag>Aag	p.E819K	ARMC3_ENST00000409983.3_Missense_Mutation_p.E812K|ARMC3_ENST00000376528.4_Missense_Mutation_p.E556K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	819						extracellular vesicular exosome (GO:0070062)		p.E819K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTTCGCGGAGAGTACGGTAG	0.547																																					p.E819K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2455A	10						.						120.0	116.0	117.0					10																	23326244		2203	4300	6503	23366250	SO:0001583	missense	219681	exon19			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2455G>A	10.37:g.23326244G>A	ENSP00000298032:p.Glu819Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23366250	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067001	0.55539	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.39229	1.09;1.09;2.3	5.68	5.68	0.88126	.	0.058335	0.64402	D	0.000003	T	0.45397	0.1340	N	0.20685	0.6	0.58432	D	0.999999	D;P	0.57571	0.98;0.915	P;P	0.59595	0.58;0.86	T	0.33163	-0.9879	10	0.39692	T	0.17	-21.9576	14.9448	0.71023	0.0703:0.0:0.9297:0.0	.	812;819	Q5W041-4;Q5W041	.;ARMC3_HUMAN	K	819;812;556	ENSP00000298032:E819K;ENSP00000386943:E812K;ENSP00000365711:E556K	ENSP00000298032:E819K	E	+	1	0	ARMC3	23366250	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	4.154000	0.58125	2.678000	0.91216	0.655000	0.94253	GAG		0.547	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ARHGAP21	57584	broad.mit.edu	37	10	24884715	24884715	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:24884715C>A	ENST00000396432.2	-	19	4129	c.3643G>T	c.(3643-3645)Gat>Tat	p.D1215Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D1002Y|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1214	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.D1214Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACATTCAAATCTCGCCATTTC	0.358																																					p.D1215Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3643T	10						.						66.0	66.0	66.0					10																	24884715		2203	4299	6502	24924721	SO:0001583	missense	57584	exon19			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3643G>T	10.37:g.24884715C>A	ENSP00000379709:p.Asp1215Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24924721	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.373769|4.373769	0.82573|0.82573	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325|ENST00000418033	T;T;T|T	0.30182|0.18502	2.36;2.36;1.54|2.21	5.27|5.27	5.27|5.27	0.74061|0.74061	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58075|0.58075	0.2097|0.2097	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.71596|0.71596	-0.4545|-0.4545	10|7	0.87932|0.56958	D|D	0|0.05	.|.	19.256|19.256	0.93945|0.93945	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1214|.	Q5T5U3|.	RHG21_HUMAN|.	Y|I	1215;664;1002;56|28	ENSP00000379709:D1215Y;ENSP00000365604:D1002Y;ENSP00000402761:D56Y|ENSP00000389940:R28I	ENSP00000365604:D1002Y|ENSP00000389940:R28I	D|R	-|-	1|2	0|0	ARHGAP21|ARHGAP21	24924721|24924721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.695000|7.695000	0.84257|0.84257	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.358	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ENKUR	219670	broad.mit.edu	37	10	25273711	25273711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25273711C>T	ENST00000331161.4	-	5	937	c.718G>A	c.(718-720)Gac>Aac	p.D240N	ENKUR_ENST00000376363.1_Missense_Mutation_p.D240N	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	240	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)		p.D240N(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGCCAATGTCGTGTTCTAGT	0.353																																					p.D240N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	10						.						127.0	119.0	122.0					10																	25273711		2203	4300	6503	25313717	SO:0001583	missense	219670	exon5			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.718G>A	10.37:g.25273711C>T	ENSP00000331044:p.Asp240Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25313717	NM_145010	A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480090	0.26598	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	4.98	3.12	0.35913	.	0.043261	0.85682	D	0.000000	T	0.78735	0.4330	M	0.87682	2.9	0.58432	D	0.999998	D;D	0.65815	0.995;0.982	P;P	0.61874	0.895;0.836	T	0.80527	-0.1343	9	0.41790	T	0.15	0.1246	14.9142	0.70781	0.1975:0.8025:0.0:0.0	.	240;240	Q5VV23;Q8TC29	.;ENKUR_HUMAN	N	240	.	ENSP00000331044:D240N	D	-	1	0	ENKUR	25313717	0.995000	0.38212	0.538000	0.28064	0.011000	0.07611	3.235000	0.51328	0.611000	0.30052	-1.243000	0.01532	GAC		0.353	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010	
THNSL1	79896	broad.mit.edu	37	10	25312249	25312249	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25312249C>A	ENST00000524413.1	+	3	444	c.97C>A	c.(97-99)Ctt>Att	p.L33I	THNSL1_ENST00000376356.4_Missense_Mutation_p.L33I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	33						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L33I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	ACAGCGATTTCTTTCAAGAAC	0.393																																					p.L33I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97A	10						.						101.0	104.0	103.0					10																	25312249		2203	4300	6503	25352255	SO:0001583	missense	79896	exon3			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.97C>A	10.37:g.25312249C>A	ENSP00000434887:p.Leu33Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25352255	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150141	0.21371	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.09350	2.99;2.99	5.87	4.96	0.65561	.	0.172570	0.39475	N	0.001359	T	0.09202	0.0227	L	0.32530	0.975	0.31567	N	0.656782	B	0.14012	0.009	B	0.09377	0.004	T	0.03423	-1.1038	10	0.72032	D	0.01	-32.5447	9.1773	0.37120	0.1319:0.7588:0.0:0.1093	.	33	Q8IYQ7	THNS1_HUMAN	I	33	ENSP00000434887:L33I;ENSP00000365534:L33I	ENSP00000365534:L33I	L	+	1	0	THNSL1	25352255	0.915000	0.31059	0.948000	0.38648	0.822000	0.46500	0.940000	0.28992	1.469000	0.48083	0.557000	0.71058	CTT		0.393	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
THNSL1	79896	broad.mit.edu	37	10	25312700	25312700	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25312700A>C	ENST00000524413.1	+	3	895	c.548A>C	c.(547-549)aAa>aCa	p.K183T	THNSL1_ENST00000376356.4_Missense_Mutation_p.K183T			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	183						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K183T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	ACATCTATGAAAGACTTACTT	0.368																																					p.K183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548C	10						.						61.0	64.0	63.0					10																	25312700		2203	4300	6503	25352706	SO:0001583	missense	79896	exon3			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.548A>C	10.37:g.25312700A>C	ENSP00000434887:p.Lys183Thr	Somatic		Capture	Illumina HiSeq	Phase_I	25352706	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	9.733	1.162898	0.21538	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.42900	0.96;0.96	5.76	2.15	0.27550	.	0.300592	0.34853	N	0.003637	T	0.30198	0.0757	L	0.56340	1.77	0.28255	N	0.925089	B	0.09022	0.002	B	0.09377	0.004	T	0.18999	-1.0319	10	0.37606	T	0.19	-10.3799	1.712	0.02893	0.572:0.1426:0.1485:0.1368	.	183	Q8IYQ7	THNS1_HUMAN	T	183	ENSP00000434887:K183T;ENSP00000365534:K183T	ENSP00000365534:K183T	K	+	2	0	THNSL1	25352706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.030000	0.30153	0.435000	0.26365	0.528000	0.53228	AAA		0.368	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
GPR158	57512	broad.mit.edu	37	10	25701363	25701363	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25701363C>T	ENST00000376351.3	+	4	1655	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	432					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F432F(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTCGACTTCGTTAGCATGC	0.478																																					p.F432F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1296T	10						.						201.0	173.0	182.0					10																	25701363		2203	4300	6503	25741369	SO:0001819	synonymous_variant	57512	exon4			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1296C>T	10.37:g.25701363C>T		Somatic		Capture	Illumina HiSeq	Phase_I	25741369	NM_020752	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.478	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25861759	25861759	+	Missense_Mutation	SNP	G	G	A	rs144380617		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25861759G>A	ENST00000376351.3	+	7	2055	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	566					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D566N(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAACATCCGATCACCTCAT	0.428																																					p.D566N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1696A	10						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	182.0	137.0	152.0		1696	5.7	1.0	10	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	566/1216	25861759	2,13004	2203	4300	6503	25901765	SO:0001583	missense	57512	exon7			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1696G>A	10.37:g.25861759G>A	ENSP00000365529:p.Asp566Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25901765	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496089	0.85069	2.27E-4	1.16E-4	ENSG00000151025	ENST00000376351	D	0.87334	-2.24	5.67	5.67	0.87782	GPCR, family 3, C-terminal (2);	0.307372	0.31760	N	0.007115	D	0.84179	0.5415	L	0.34521	1.04	0.80722	D	1	P	0.37731	0.607	B	0.39971	0.315	T	0.82589	-0.0382	10	0.35671	T	0.21	.	19.7579	0.96301	0.0:0.0:1.0:0.0	.	566	Q5T848	GP158_HUMAN	N	566	ENSP00000365529:D566N	ENSP00000365529:D566N	D	+	1	0	GPR158	25901765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.972000	0.88022	2.677000	0.91161	0.557000	0.71058	GAT		0.428	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25886862	25886862	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:25886862C>T	ENST00000376351.3	+	11	2666	c.2307C>T	c.(2305-2307)tgC>tgT	p.C769C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	769					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C769C(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCGGCAGTGCTCTAAAGAGG	0.572																																					p.C769C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2307T	10						.						85.0	94.0	91.0					10																	25886862		2203	4300	6503	25926868	SO:0001819	synonymous_variant	57512	exon11			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2307C>T	10.37:g.25886862C>T		Somatic		Capture	Illumina HiSeq	Phase_I	25926868	NM_020752	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.572	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu	37	10	26385322	26385322	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:26385322T>G	ENST00000265944.5	+	16	1741	c.1575T>G	c.(1573-1575)aaT>aaG	p.N525K	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525K(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAAAAATTTTCATATTT	0.318																																					p.N525K												MYO3A,ovary,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.T1575G	10						.						31.0	34.0	33.0					10																	26385322		2195	4288	6483	26425328	SO:0001583	missense	53904	exon16			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1575T>G	10.37:g.26385322T>G	ENSP00000265944:p.Asn525Lys	Somatic		Capture	Illumina HiSeq	Phase_I	26425328	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601852	0.66445	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.89485	-1.05;-2.52	5.48	0.406	0.16366	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.95573	0.8561	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.995;0.997;1.0	D	0.93773	0.7077	10	0.87932	D	0	.	9.3267	0.37997	0.0:0.2858:0.0:0.7142	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	K	525	ENSP00000265944:N525K;ENSP00000445909:N525K	ENSP00000265944:N525K	N	+	3	2	MYO3A	26425328	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.732000	0.26072	-0.104000	0.12154	0.533000	0.62120	AAT		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26463131	26463131	+	Missense_Mutation	SNP	G	G	A	rs142853143		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:26463131G>A	ENST00000265944.5	+	30	4104	c.3938G>A	c.(3937-3939)cGt>cAt	p.R1313H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1313			R -> S (in dbSNP:rs1999240). {ECO:0000269|PubMed:10936054, ECO:0000269|PubMed:12032315, ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1313N(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTTACCCAGCGTGCACCGATA	0.458																																					p.R1313H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3938A	10						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	123.0	121.0		3938	1.3	0.3	10	dbSNP_134	121	0,8600		0,0,4300	yes	missense	MYO3A	NM_017433.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1313/1617	26463131	1,13005	2203	4300	6503	26503137	SO:0001583	missense	53904	exon30			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3938G>A	10.37:g.26463131G>A	ENSP00000265944:p.Arg1313His	Somatic		Capture	Illumina HiSeq	Phase_I	26503137	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	5.918	0.353428	0.11182	2.27E-4	0.0	ENSG00000095777	ENST00000265944	T	0.78924	-1.22	5.22	1.28	0.21552	.	0.302191	0.40302	N	0.001124	T	0.49795	0.1578	N	0.08118	0	0.09310	N	0.999998	B	0.22146	0.065	B	0.06405	0.002	T	0.34104	-0.9842	10	0.44086	T	0.13	.	1.6888	0.02847	0.4979:0.1399:0.2407:0.1214	.	1313	Q8NEV4	MYO3A_HUMAN	H	1313	ENSP00000265944:R1313H	ENSP00000265944:R1313H	R	+	2	0	MYO3A	26503137	0.878000	0.30173	0.317000	0.25265	0.075000	0.17131	1.554000	0.36266	0.285000	0.22329	-0.471000	0.05019	CGT		0.458	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ANKRD26	22852	broad.mit.edu	37	10	27323987	27323987	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:27323987G>A	ENST00000376087.4	-	24	3557	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.S1147F|ANKRD26_ENST00000376070.3_Missense_Mutation_p.S688F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1130					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.S1131F(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCCTCTACAGACTCCTGCTT	0.383																																					p.S1131F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3392T	10						.						178.0	166.0	169.0					10																	27323987		1898	4129	6027	27363993	SO:0001583	missense	22852	exon24			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3392C>T	10.37:g.27323987G>A	ENSP00000365255:p.Ser1131Phe	Somatic		Capture	Illumina HiSeq	Phase_I	27363993	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231619	0.58777	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.20598	2.06;2.06;2.06	5.43	2.53	0.30540	.	0.000000	0.52532	D	0.000062	T	0.45418	0.1341	M	0.82323	2.585	0.38534	D	0.949043	D;D;P	0.89917	1.0;0.999;0.621	D;D;B	0.87578	0.998;0.996;0.234	T	0.46555	-0.9183	10	0.87932	D	0	.	9.0868	0.36586	0.0777:0.2786:0.6437:0.0	.	1131;1130;1147	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	F	688;1131;1147	ENSP00000365238:S688F;ENSP00000365255:S1131F;ENSP00000405112:S1147F	ENSP00000365238:S688F	S	-	2	0	ANKRD26	27363993	1.000000	0.71417	0.016000	0.15963	0.993000	0.82548	6.617000	0.74210	0.252000	0.21531	0.591000	0.81541	TCT		0.383	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27324210	27324210	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:27324210C>A	ENST00000376087.4	-	24	3334	c.3169G>T	c.(3169-3171)Gat>Tat	p.D1057Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1073Y|ANKRD26_ENST00000376070.3_Missense_Mutation_p.D614Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1056					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.D1057Y(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCATTGTTATCTTTTAGGTTA	0.348																																					p.D1057Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3169T	10						.						82.0	77.0	79.0					10																	27324210		1834	4093	5927	27364216	SO:0001583	missense	22852	exon24			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3169G>T	10.37:g.27324210C>A	ENSP00000365255:p.Asp1057Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27364216	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566133	0.27915	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.19250	2.16;2.16;2.16	5.7	3.85	0.44370	.	0.104904	0.39834	N	0.001257	T	0.27278	0.0669	L	0.56769	1.78	0.09310	N	0.999997	P;P;P	0.46220	0.874;0.8;0.8	P;B;P	0.47528	0.549;0.347;0.467	T	0.07809	-1.0753	10	0.59425	D	0.04	.	9.7165	0.40278	0.0:0.7811:0.1414:0.0775	.	1057;1056;1073	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	614;1057;1073	ENSP00000365238:D614Y;ENSP00000365255:D1057Y;ENSP00000405112:D1073Y	ENSP00000365238:D614Y	D	-	1	0	ANKRD26	27364216	1.000000	0.71417	0.001000	0.08648	0.111000	0.19643	4.680000	0.61656	0.764000	0.33197	0.591000	0.81541	GAT		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
MASTL	84930	broad.mit.edu	37	10	27450082	27450082	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:27450082T>G	ENST00000375940.4	+	4	581	c.524T>G	c.(523-525)tTt>tGt	p.F175C	MASTL_ENST00000375946.4_Missense_Mutation_p.F175C|MASTL_ENST00000342386.6_Missense_Mutation_p.F175C			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.F175C(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGACGGATTTTGGCCTTTCA	0.373																																					p.F175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T524G	10						.						78.0	80.0	80.0					10																	27450082		2203	4300	6503	27490088	SO:0001583	missense	84930	exon4			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.524T>G	10.37:g.27450082T>G	ENSP00000365107:p.Phe175Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27490088	NM_001172303	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033578	0.75504	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.74002	-0.8;-0.8;-0.8	5.58	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047639	0.85682	D	0.000000	D	0.90195	0.6935	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92177	0.5748	10	0.87932	D	0	-22.9581	12.7582	0.57347	0.0:0.0:0.1372:0.8628	.	175;175;175	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	C	175	ENSP00000365113:F175C;ENSP00000343446:F175C;ENSP00000365107:F175C	ENSP00000343446:F175C	F	+	2	0	MASTL	27490088	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.577000	0.82486	0.928000	0.37168	0.454000	0.30748	TTT		0.373	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
PTCHD3	374308	broad.mit.edu	37	10	27687466	27687466	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:27687466G>T	ENST00000438700.3	-	4	2178	c.2061C>A	c.(2059-2061)gtC>gtA	p.V687V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	687					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.V687V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATCTACATAGACATTTTTTT	0.303																																					p.V687V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2061A	10						.						37.0	38.0	38.0					10																	27687466		2202	4291	6493	27727472	SO:0001819	synonymous_variant	374308	exon4			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2061C>A	10.37:g.27687466G>T		Somatic		Capture	Illumina HiSeq	Phase_I	27727472	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.303	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453																																					p.E22K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64A	10						.						76.0	72.0	73.0					10																	28284008		2203	4300	6503	28324014	SO:0001583	missense	55130	exon2			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.64G>A	10.37:g.28284008C>T	ENSP00000306410:p.Glu22Lys	Somatic		Capture	Illumina HiSeq	Phase_I	28324014	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197339	0.79015	.	.	ENSG00000169126	ENST00000305242	T	0.34859	1.34	4.98	4.98	0.66077	.	0.184706	0.44285	D	0.000467	T	0.52581	0.1743	M	0.78637	2.42	0.80722	D	1	D	0.63880	0.993	P	0.50270	0.636	T	0.62058	-0.6934	10	0.72032	D	0.01	-11.0108	18.2268	0.89920	0.0:1.0:0.0:0.0	.	22	Q5T2S8	ARMC4_HUMAN	K	22	ENSP00000306410:E22K	ENSP00000306410:E22K	E	-	1	0	ARMC4	28324014	0.997000	0.39634	0.038000	0.18304	0.003000	0.03518	5.411000	0.66386	2.293000	0.77203	0.585000	0.79938	GAA		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
WAC	51322	broad.mit.edu	37	10	28900725	28900725	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:28900725G>A	ENST00000354911.4	+	10	1472	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	WAC_ENST00000375664.4_Silent_p.P392P|WAC_ENST00000347934.4_Silent_p.P334P|WAC_ENST00000375646.1_Silent_p.P285P	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	437					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.P437P(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ATCAGTCTCCGATGTCTTTAA	0.358																																					p.P334P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1002A	10						.						153.0	137.0	142.0					10																	28900725		2203	4300	6503	28940731	SO:0001819	synonymous_variant	51322	exon9			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1311G>A	10.37:g.28900725G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28940731	NM_100486	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	CCDS7159.1																																																																																				0.358	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
SVIL	6840	broad.mit.edu	37	10	29782172	29782172	+	Silent	SNP	G	G	A	rs376322653		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:29782172G>A	ENST00000355867.4	-	21	4742	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	SVIL_ENST00000535393.1_Silent_p.F244F|SVIL_ENST00000538146.1_Silent_p.F122F|SVIL_ENST00000375400.3_Silent_p.F904F|SVIL_ENST00000375398.2_Silent_p.F1330F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1330					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.F1330F(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAATGACATCGAAGTCCTCAT	0.478																																					p.F904F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2712T	10						.						111.0	95.0	100.0					10																	29782172		2203	4300	6503	29822178	SO:0001819	synonymous_variant	6840	exon19			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3990C>T	10.37:g.29782172G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29822178	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.478	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
ZEB1	6935	broad.mit.edu	37	10	31791292	31791292	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:31791292C>T	ENST00000320985.10	+	4	446	c.336C>T	c.(334-336)tgC>tgT	p.C112C	ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000542815.3_Silent_p.C45C|ZEB1_ENST00000446923.2_Silent_p.C96C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.C113C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338																																					p.C112C	Ovarian(40;423 959 14296 36701 49589)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	10						.						95.0	87.0	90.0					10																	31791292		2203	4300	6503	31831298	SO:0001819	synonymous_variant	6935	exon4			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.336C>T	10.37:g.31791292C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31831298	NM_030751	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191691	0.21954	.	.	ENSG00000148516	ENST00000543514	.	.	.	5.92	-4.35	0.03656	.	.	.	.	.	T	0.69566	0.3125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74830	-0.3531	5	0.87932	D	0	-10.5085	13.9391	0.64043	0.0:0.2781:0.0:0.7219	.	.	.	.	V	4	.	ENSP00000443742:A4V	A	+	2	0	ZEB1	31831298	0.691000	0.27709	0.986000	0.45419	0.998000	0.95712	-0.181000	0.09740	-0.731000	0.04862	0.650000	0.86243	GCG		0.338	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
EPC1	80314	broad.mit.edu	37	10	32581518	32581518	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:32581518G>T	ENST00000263062.8	-	5	990	c.721C>A	c.(721-723)Cta>Ata	p.L241I	EPC1_ENST00000319778.6_Missense_Mutation_p.L241I|EPC1_ENST00000375110.2_Missense_Mutation_p.L191I	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	241					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L241I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCTCGACTTAGATCTCGTCGC	0.338																																					p.L241I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C721A	10						.						103.0	99.0	100.0					10																	32581518		2202	4300	6502	32621524	SO:0001583	missense	80314	exon5			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.721C>A	10.37:g.32581518G>T	ENSP00000263062:p.Leu241Ile	Somatic		Capture	Illumina HiSeq	Phase_I	32621524	NM_025209	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543775	0.86022	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.71674	0.974;0.998;0.971;0.964	P;D;D;P	0.83275	0.829;0.996;0.909;0.723	T	0.80132	-0.1510	9	0.62326	D	0.03	-7.898	14.2652	0.66113	0.0713:0.0:0.9287:0.0	.	241;191;241;241	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	I	191;241;241	.	ENSP00000263062:L241I	L	-	1	2	EPC1	32621524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.950000	0.49081	2.807000	0.96579	0.591000	0.81541	CTA		0.338	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1		
CCDC7	79741	broad.mit.edu	37	10	32854514	32854514	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:32854514A>C	ENST00000362006.5	+	15	1706	c.1163A>C	c.(1162-1164)aAa>aCa	p.K388T	CCDC7_ENST00000277657.6_Missense_Mutation_p.K388T|C10orf68_ENST00000375028.3_5'Flank|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'Flank	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	388								p.K388T(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATTGAGAACAAAGTCCTTCAG	0.318																																					p.K388T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1163C	10						.						48.0	47.0	47.0					10																	32854514		2203	4300	6503	32894520	SO:0001583	missense	221016	exon15			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1163A>C	10.37:g.32854514A>C	ENSP00000355078:p.Lys388Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32894520	NM_145023	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671069	0.47781	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.56103	1.28;1.28;0.48	4.97	-1.69	0.08186	.	.	.	.	.	T	0.52273	0.1724	L	0.27053	0.805	0.44539	D	0.997493	D	0.67145	0.996	D	0.67725	0.953	T	0.51865	-0.8651	9	0.54805	T	0.06	-1.6577	9.2417	0.37500	0.5499:0.0:0.4501:0.0	.	388	Q96M83	CCDC7_HUMAN	T	388;388;57	ENSP00000277657:K388T;ENSP00000355078:K388T;ENSP00000401923:K57T	ENSP00000277657:K388T	K	+	2	0	CCDC7	32894520	0.295000	0.24389	0.331000	0.25455	0.761000	0.43186	0.022000	0.13511	-0.282000	0.09128	0.460000	0.39030	AAA		0.318	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	
ITGB1	3688	broad.mit.edu	37	10	33190516	33190516	+	Silent	SNP	C	C	T	rs201353781		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:33190516C>T	ENST00000396033.2	-	16	2514	c.2379G>A	c.(2377-2379)ccG>ccA	p.P793P	ITGB1_ENST00000374956.4_3'UTR|ITGB1_ENST00000302278.3_Silent_p.P793P|ITGB1_ENST00000423113.1_3'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	793					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.P793P(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CCTCATACTTCGGATTGACCA	0.368																																					p.P793P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2379A	10						.						95.0	86.0	89.0					10																	33190516		2203	4297	6500	33230522	SO:0001819	synonymous_variant	3688	exon16			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2379G>A	10.37:g.33190516C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33230522	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	3'UTR	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																				0.368	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
ITGB1	3688	broad.mit.edu	37	10	33197317	33197317	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:33197317T>G	ENST00000396033.2	-	15	2445	c.2310A>C	c.(2308-2310)aaA>aaC	p.K770N	ITGB1_ENST00000374956.4_Missense_Mutation_p.K770N|ITGB1_ENST00000302278.3_Missense_Mutation_p.K770N|ITGB1_ENST00000423113.1_Missense_Mutation_p.K770N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	770					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.K770N(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGGCATTCATTTTCTCCTTTT	0.343																																					p.K770N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2310C	10						.						156.0	151.0	153.0					10																	33197317		2203	4300	6503	33237323	SO:0001583	missense	3688	exon15			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2310A>C	10.37:g.33197317T>G	ENSP00000379350:p.Lys770Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33237323	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.504906|4.504906	0.85282|0.85282	.|.	.|.	ENSG00000150093|ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956|ENST00000488427	D;D;D;D|.	0.88741|.	-2.42;-2.42;-2.42;-2.42|.	5.93|5.93	4.81|4.81	0.61882|0.61882	Integrin beta subunit, cytoplasmic (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	P;D;P;B;P|.	0.89917|.	0.859;1.0;0.546;0.328;0.889|.	P;D;P;B;P|.	0.91635|.	0.697;0.999;0.588;0.157;0.705|.	T|T	0.57711|0.57711	-0.7764|-0.7764	10|5	0.87932|.	D|.	0|.	.|.	7.1993|7.1993	0.25871|0.25871	0.0:0.1598:0.0:0.8402|0.0:0.1598:0.0:0.8402	.|.	770;770;770;770;770|.	P05556-2;P05556;P05556-5;P05556-3;P05556-4|.	.;ITB1_HUMAN;.;.;.|.	N|H	770|39	ENSP00000379350:K770N;ENSP00000388694:K770N;ENSP00000303351:K770N;ENSP00000364094:K770N|.	ENSP00000303351:K770N|.	K|N	-|-	3|1	2|0	ITGB1|ITGB1	33237323|33237323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.098000|2.098000	0.41757|0.41757	2.269000|2.269000	0.75478|0.75478	0.454000|0.454000	0.30748|0.30748	AAA|AAT		0.343	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
PARD3	56288	broad.mit.edu	37	10	34400367	34400367	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:34400367G>A	ENST00000374789.3	-	25	4126	c.3801C>T	c.(3799-3801)aaC>aaT	p.N1267N	PARD3_ENST00000545693.1_Silent_p.N1251N|PARD3_ENST00000350537.4_Silent_p.N1221N|PARD3_ENST00000545260.1_Silent_p.N1177N|PARD3_ENST00000374790.3_Silent_p.N1207N|PARD3_ENST00000346874.4_Silent_p.N1230N|PARD3_ENST00000374788.3_Silent_p.N1264N|PARD3_ENST00000374794.3_Silent_p.N1155N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1267					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.N1267N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCAGGTAGCCGTTCCTGGAGC	0.592																																					p.N1155N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3465T	10						.						72.0	70.0	70.0					10																	34400367		2203	4300	6503	34440373	SO:0001819	synonymous_variant	56288	exon21			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3801C>T	10.37:g.34400367G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34440373	NM_001184791	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																				0.592	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
CUL2	8453	broad.mit.edu	37	10	35327980	35327980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:35327980G>A	ENST00000374748.1	-	10	1058	c.745C>T	c.(745-747)Cga>Tga	p.R249*	CUL2_ENST00000602371.1_Nonsense_Mutation_p.R192*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.R249*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.R249*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.R249*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.R268*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.R249*			Q13617	CUL2_HUMAN	cullin 2	249					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.R249*(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTCGACATCGAATTTCTTCA	0.318																																					p.R262X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C784T	10						.						107.0	98.0	101.0					10																	35327980		2203	4295	6498	35367986	SO:0001587	stop_gained	8453	exon9			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.745C>T	10.37:g.35327980G>A	ENSP00000363880:p.Arg249*	Somatic		Capture	Illumina HiSeq	Phase_I	35367986	NM_001198779	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Nonsense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365693	0.95900	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	6.16	1.06	0.20224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0139	5.3528	0.16045	0.245:0.0:0.5318:0.2233	.	.	.	.	X	249;249;249;249;192;249;268	.	ENSP00000363874:R249X	R	-	1	2	CUL2	35367986	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.814000	0.48010	0.160000	0.19432	0.650000	0.86243	CGA		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
ANKRD30A	91074	broad.mit.edu	37	10	37419185	37419185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:37419185C>T	ENST00000602533.1	+	3	320	c.221C>T	c.(220-222)gCc>gTc	p.A74V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A74V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A74V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	130					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A74V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATTCTGGTGCCGATATAAAT	0.388																																					p.A74V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C221T	10						.						86.0	76.0	79.0					10																	37419185		1861	4109	5970	37459191	SO:0001583	missense	91074	exon3			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.221C>T	10.37:g.37419185C>T	ENSP00000473551:p.Ala74Val	Somatic		Capture	Illumina HiSeq	Phase_I	37459191	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	15.99	2.996346	0.54147	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.71222	-0.55;-0.55	2.0	2.0	0.26442	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.77961	0.4209	L	0.61387	1.9	0.34833	D	0.739865	D	0.69078	0.997	D	0.74348	0.983	T	0.80625	-0.1299	9	0.54805	T	0.06	.	7.4605	0.27291	0.0:1.0:0.0:0.0	.	130	Q9BXX3	AN30A_HUMAN	V	74	ENSP00000354432:A74V;ENSP00000363792:A74V	ENSP00000354432:A74V	A	+	2	0	ANKRD30A	37459191	0.998000	0.40836	0.075000	0.20258	0.014000	0.08584	4.833000	0.62766	1.110000	0.41699	0.281000	0.19383	GCC		0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	broad.mit.edu	37	10	37436300	37436300	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:37436300T>C	ENST00000602533.1	+	9	1389	c.1290T>C	c.(1288-1290)agT>agC	p.S430S	ANKRD30A_ENST00000374660.1_Silent_p.S430S|ANKRD30A_ENST00000361713.1_Silent_p.S430S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	486					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S430S(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTAACAGAGTCTCTTTGAGA	0.264																																					p.S430S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1290C	10						.						39.0	37.0	38.0					10																	37436300		1789	4030	5819	37476306	SO:0001819	synonymous_variant	91074	exon9			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1290T>C	10.37:g.37436300T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37476306	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.264	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	broad.mit.edu	37	10	37508138	37508138	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:37508138G>A	ENST00000602533.1	+	34	3429	c.3330G>A	c.(3328-3330)ggG>ggA	p.G1110G	ANKRD30A_ENST00000374660.1_Silent_p.G1229G|ANKRD30A_ENST00000361713.1_Silent_p.G1110G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1166					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1110G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATATAGTGGGCAGCTTAAAG	0.348																																					p.G1110G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3330A	10						.						126.0	126.0	126.0					10																	37508138		1838	4083	5921	37548144	SO:0001819	synonymous_variant	91074	exon34			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3330G>A	10.37:g.37508138G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37548144	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.348	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ZNF33A	7581	broad.mit.edu	37	10	38306266	38306266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:38306266G>T	ENST00000458705.2	+	4	360	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.E68*|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Nonsense_Mutation_p.E68*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E68*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E75*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.E68*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCAACAAGGAGAAGAGCCATG	0.443																																					p.E68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	10						.						160.0	155.0	156.0					10																	38306266		2203	4300	6503	38346272	SO:0001587	stop_gained	7581	exon4			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.202G>T	10.37:g.38306266G>T	ENSP00000387713:p.Glu68*	Somatic		Capture	Illumina HiSeq	Phase_I	38346272	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832396	0.32421	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441;ENST00000265892	.	.	.	3.58	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.3343	0.11078	0.1335:0.2374:0.6292:0.0	.	.	.	.	X	68;75;68;68;68;28	.	ENSP00000265892:E28X	E	+	1	0	ZNF33A	38346272	0.998000	0.40836	0.850000	0.33497	0.229000	0.25112	0.546000	0.23284	0.851000	0.35264	0.462000	0.41574	GAA		0.443	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF33A	7581	broad.mit.edu	37	10	38344413	38344413	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:38344413C>T	ENST00000458705.2	+	5	1516	c.1358C>T	c.(1357-1359)tCg>tTg	p.S453L	ZNF33A_ENST00000374618.3_Missense_Mutation_p.S454L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S453L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S460L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	453					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)	p.S453L(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CGTGTGACTTCGCACCTTAAA	0.408																																					p.S454L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1361T	10						.						74.0	71.0	72.0					10																	38344413		2203	4300	6503	38384419	SO:0001583	missense	7581	exon5			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1358C>T	10.37:g.38344413C>T	ENSP00000387713:p.Ser453Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38384419	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247608	0.22880	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	2.05	0.899	0.19271	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.27168	N	0.020619	T	0.35248	0.0925	M	0.74546	2.27	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.83275	0.996;0.994;0.563	T	0.02093	-1.1215	10	0.66056	D	0.02	.	7.9186	0.29833	0.0:0.7425:0.2575:0.0	.	460;453;454	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	454;460;453;453	ENSP00000363747:S454L;ENSP00000402467:S460L;ENSP00000387713:S453L;ENSP00000304268:S453L	ENSP00000304268:S453L	S	+	2	0	ZNF33A	38384419	0.003000	0.15002	0.998000	0.56505	0.194000	0.23727	1.302000	0.33459	1.117000	0.41842	0.460000	0.39030	TCG		0.408	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF33A	7581	broad.mit.edu	37	10	38344642	38344642	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:38344642T>C	ENST00000458705.2	+	5	1745	c.1587T>C	c.(1585-1587)tgT>tgC	p.C529C	ZNF33A_ENST00000374618.3_Silent_p.C530C|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.C529C|ZNF33A_ENST00000432900.2_Silent_p.C536C			Q06730	ZN33A_HUMAN	zinc finger protein 33A	529					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)	p.C529C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTTATGAATGTGGGAAAACCT	0.423																																					p.C530C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1590C	10						.						100.0	99.0	99.0					10																	38344642		2203	4300	6503	38384648	SO:0001819	synonymous_variant	7581	exon5			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1587T>C	10.37:g.38344642T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38384648	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	CCDS31182.1																																																																																				0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF37A	7587	broad.mit.edu	37	10	38407733	38407733	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:38407733A>C	ENST00000361085.5	+	7	1999	c.1654A>C	c.(1654-1656)Aat>Cat	p.N552H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N552H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	552					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)	p.N552H(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAACCCTATAAATGTAGTAAA	0.348																																					p.N552H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1654C	10						.						39.0	40.0	39.0					10																	38407733		2203	4299	6502	38447739	SO:0001583	missense	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1654A>C	10.37:g.38407733A>C	ENSP00000354377:p.Asn552His	Somatic		Capture	Illumina HiSeq	Phase_I	38447739	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	1.603	-0.526143	0.04141	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07327	3.2;3.2	2.12	0.85	0.18980	.	.	.	.	.	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.66056	D	0.02	.	6.3481	0.21361	0.4757:0.5243:0.0:0.0	.	552	P17032	ZN37A_HUMAN	H	552	ENSP00000329141:N552H;ENSP00000354377:N552H	ENSP00000329141:N552H	N	+	1	0	ZNF37A	38447739	0.000000	0.05858	0.373000	0.26003	0.456000	0.32438	-0.659000	0.05323	0.067000	0.16545	0.482000	0.46254	AAT		0.348	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ZNF33B	7582	broad.mit.edu	37	10	43090003	43090003	+	Missense_Mutation	SNP	G	G	T	rs147797286	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:43090003G>T	ENST00000359467.3	-	5	509	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	132					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)	p.S132Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GGAAGGAAAAGAACTTACGTC	0.328													g|||	3	0.000599042	0.0023	0.0	5008	,	,		16515	0.0		0.0	False		,,,				2504	0.0				p.S132Y	Melanoma(137;1247 1767 16772 25727 43810)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C395A	10						.	G	TYR/SER	8,4398	14.3+/-33.2	0,8,2195	89.0	87.0	87.0		395	-1.1	0.1	10	dbSNP_134	87	0,8600		0,0,4300	yes	missense	ZNF33B	NM_006955.1	144	0,8,6495	TT,TG,GG		0.0,0.1816,0.0615	benign	132/779	43090003	8,12998	2203	4300	6503	42410009	SO:0001583	missense	7582	exon5			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.395C>A	10.37:g.43090003G>T	ENSP00000352444:p.Ser132Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42410009	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224408	0.01530	0.001816	0.0	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.05580	3.42	2.14	-1.06	0.10002	.	0.857165	0.09577	N	0.783458	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	0.999996	B	0.09022	0.002	B	0.10450	0.005	T	0.48559	-0.9025	10	0.16420	T	0.52	.	3.3396	0.07114	0.2702:0.0:0.5276:0.2022	.	132	Q06732	ZN33B_HUMAN	Y	132;98	ENSP00000352444:S132Y	ENSP00000352444:S132Y	S	-	2	0	ZNF33B	42410009	0.184000	0.23200	0.057000	0.19452	0.123000	0.20343	0.229000	0.17833	-0.263000	0.09378	0.416000	0.27883	TCT		0.328	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
BMS1	9790	broad.mit.edu	37	10	43279898	43279898	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:43279898C>G	ENST00000374518.5	+	2	119	c.56C>G	c.(55-57)gCa>gGa	p.A19G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	19					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.A19G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCAAAGCTGCAAAGAAAAAG	0.458																																					p.A19G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56G	10						.						58.0	65.0	63.0					10																	43279898		2203	4300	6503	42599904	SO:0001583	missense	9790	exon2			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.56C>G	10.37:g.43279898C>G	ENSP00000363642:p.Ala19Gly	Somatic		Capture	Illumina HiSeq	Phase_I	42599904	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647352	0.29246	.	.	ENSG00000165733	ENST00000374518	T	0.08370	3.1	4.54	3.39	0.38822	.	0.432154	0.28268	N	0.015979	T	0.06280	0.0162	L	0.33339	1.005	0.22342	N	0.999185	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.30854	T	0.27	.	6.8151	0.23826	0.7649:0.1547:0.0804:0.0	.	19	Q14692	BMS1_HUMAN	G	19	ENSP00000363642:A19G	ENSP00000363642:A19G	A	+	2	0	BMS1	42599904	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.078000	0.64425	0.615000	0.30124	-0.486000	0.04755	GCA		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
RET	5979	broad.mit.edu	37	10	43612162	43612162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:43612162C>T	ENST00000355710.3	+	12	2499	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V	RET_ENST00000340058.5_Missense_Mutation_p.A756V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCACGGTGGCCGTGAAGATG	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.A756V	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2267T	10						.						105.0	111.0	109.0					10																	43612162		2203	4300	6503	42932168	SO:0001583	missense	5979	exon12	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2267C>T	10.37:g.43612162C>T	ENSP00000347942:p.Ala756Val	Somatic		Capture	Illumina HiSeq	Phase_I	42932168	NM_020630	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463271	0.96257	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95482	-3.72;-3.72	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97990	1.0354	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	756	ENSP00000347942:A756V;ENSP00000344798:A756V	ENSP00000344798:A756V	A	+	2	0	RET	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
ZNF239	8187	broad.mit.edu	37	10	44052537	44052537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:44052537G>A	ENST00000306006.6	-	2	1643	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	ZNF239_ENST00000535642.1_Missense_Mutation_p.R331C|ZNF239_ENST00000426961.1_Missense_Mutation_p.R331C|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Missense_Mutation_p.R331C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R331C(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGTTTGAGCGCTGACTGAAG	0.542																																					p.R331C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C991T	10						.						99.0	102.0	101.0					10																	44052537		2203	4300	6503	43372543	SO:0001583	missense	8187	exon2			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.991C>T	10.37:g.44052537G>A	ENSP00000307774:p.Arg331Cys	Somatic		Capture	Illumina HiSeq	Phase_I	43372543	NM_005674	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422933	0.62733	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41419	0.1158	N	0.16201	0.385	0.40380	D	0.979434	D	0.89917	1.0	D	0.79108	0.992	T	0.43940	-0.9360	9	0.49607	T	0.09	-17.9867	13.9475	0.64094	0.0:0.0:1.0:0.0	.	331	Q16600	ZN239_HUMAN	C	331	ENSP00000307774:R331C;ENSP00000363569:R331C;ENSP00000398202:R331C;ENSP00000443907:R331C	ENSP00000307774:R331C	R	-	1	0	ZNF239	43372543	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	1.138000	0.31491	2.397000	0.81536	0.585000	0.79938	CGC		0.542	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
ZNF239	8187	broad.mit.edu	37	10	44052858	44052858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:44052858G>A	ENST00000306006.6	-	2	1322	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	ZNF239_ENST00000535642.1_Missense_Mutation_p.L224F|ZNF239_ENST00000426961.1_Missense_Mutation_p.L224F|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Missense_Mutation_p.L224F	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L224F(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTGATGAAGTAGTAGCTCT	0.458																																					p.L224F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	10						.						115.0	111.0	112.0					10																	44052858		2080	4229	6309	43372864	SO:0001583	missense	8187	exon2			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.670C>T	10.37:g.44052858G>A	ENSP00000307774:p.Leu224Phe	Somatic		Capture	Illumina HiSeq	Phase_I	43372864	NM_005674	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931778	0.52866	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	3.91	-0.223	0.13118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51143	0.1657	L	0.37630	1.12	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.27673	-1.0067	9	0.16896	T	0.51	-0.132	2.2145	0.03956	0.1857:0.1523:0.5055:0.1565	.	224	Q16600	ZN239_HUMAN	F	224	ENSP00000307774:L224F;ENSP00000363569:L224F;ENSP00000398202:L224F;ENSP00000443907:L224F	ENSP00000307774:L224F	L	-	1	0	ZNF239	43372864	0.000000	0.05858	0.003000	0.11579	0.452000	0.32318	-1.556000	0.02168	-0.029000	0.13827	0.655000	0.94253	CTT		0.458	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
ZNF32	7580	broad.mit.edu	37	10	44139887	44139887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:44139887G>A	ENST00000395797.1	-	3	621	c.433C>T	c.(433-435)Cga>Tga	p.R145*	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32_ENST00000374433.2_Nonsense_Mutation_p.R145*	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R145*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AGACTACCTCGTTGACTGAAG	0.483																																					p.R145X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C433T	10						.						145.0	134.0	138.0					10																	44139887		2203	4300	6503	43459893	SO:0001587	stop_gained	7580	exon3			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.433C>T	10.37:g.44139887G>A	ENSP00000379143:p.Arg145*	Somatic		Capture	Illumina HiSeq	Phase_I	43459893	NM_006973	Q92951	Nonsense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839460	0.91117	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	.	.	.	4.23	4.23	0.50019	.	0.000000	0.39146	N	0.001458	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.2974	10.4375	0.44443	0.0:0.1976:0.8024:0.0	.	.	.	.	X	145	.	ENSP00000363556:R145X	R	-	1	2	ZNF32	43459893	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	0.194000	0.17135	2.647000	0.89833	0.655000	0.94253	CGA		0.483	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973	
OR13A1	79290	broad.mit.edu	37	10	45799154	45799154	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:45799154G>A	ENST00000553795.1	-	4	1025	c.717C>T	c.(715-717)atC>atT	p.I239I	OR13A1_ENST00000374401.2_Silent_p.I239I|OR13A1_ENST00000536058.1_Silent_p.I239I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I239I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCTGGAGACGATGAAGCCAT	0.557																																					p.I239I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	10						.						93.0	91.0	92.0					10																	45799154		2203	4300	6503	45119160	SO:0001819	synonymous_variant	79290	exon4			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.717C>T	10.37:g.45799154G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45119160	NM_001004297	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	CCDS31188.1																																																																																				0.557	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
ALOX5	240	broad.mit.edu	37	10	45907676	45907676	+	Missense_Mutation	SNP	G	G	A	rs560031203		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:45907676G>A	ENST00000374391.2	+	4	522	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ALOX5_ENST00000542434.1_Missense_Mutation_p.D157N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	157	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.D157N(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTGAGCATCGATGCCAAATG	0.463																																					p.D157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	10						.						134.0	127.0	129.0					10																	45907676		2203	4300	6503	45227682	SO:0001583	missense	240	exon4			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.469G>A	10.37:g.45907676G>A	ENSP00000363512:p.Asp157Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45227682	NM_000698	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221495	0.58560	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.80653	-1.4;-1.4	5.16	5.16	0.70880	Lipoxygenase, C-terminal (3);	0.178349	0.47852	D	0.000214	T	0.76350	0.3975	L	0.52126	1.63	0.54753	D	0.999984	P;P;P	0.44195	0.791;0.828;0.57	B;B;B	0.41174	0.331;0.349;0.22	T	0.74325	-0.3702	10	0.21014	T	0.42	-23.6114	16.15	0.81611	0.0:0.0:1.0:0.0	.	157;157;157	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	N	157	ENSP00000437634:D157N;ENSP00000363512:D157N	ENSP00000363512:D157N	D	+	1	0	ALOX5	45227682	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	6.419000	0.73345	2.393000	0.81446	0.655000	0.94253	GAT		0.463	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
MARCH8	220972	broad.mit.edu	37	10	45953759	45953759	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:45953759G>T	ENST00000319836.3	-	7	1553	c.804C>A	c.(802-804)atC>atA	p.I268I	MARCH8_ENST00000395771.3_Silent_p.I268I|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.I268I|MARCH8_ENST00000453424.2_Silent_p.I550I	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	268					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I268I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CGGAATGACAGATTCCATATC	0.393																																					p.I268I	NSCLC(102;658 1594 2173 16344 34808)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804A	10						.						116.0	116.0	116.0					10																	45953759		2203	4300	6503	45273765	SO:0001819	synonymous_variant	220972	exon7			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.804C>A	10.37:g.45953759G>T		Somatic		Capture	Illumina HiSeq	Phase_I	45273765	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	G	6.128	0.391852	0.11581	.	.	ENSG00000165406	ENST00000453424	.	.	.	5.67	3.77	0.43336	.	.	.	.	.	T	0.36303	0.0962	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	-0.129	8.6351	0.33943	0.0848:0.1623:0.7529:0.0	.	.	.	.	M	433	.	.	L	-	1	2	MARCH8	45273765	0.982000	0.34865	0.052000	0.19188	0.956000	0.61745	1.910000	0.39927	1.361000	0.45981	0.655000	0.94253	CTG		0.393	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
MARCH8	220972	broad.mit.edu	37	10	45956732	45956732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:45956732C>T	ENST00000319836.3	-	5	1119	c.370G>A	c.(370-372)Gag>Aag	p.E124K	MARCH8_ENST00000395771.3_Missense_Mutation_p.E124K|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.E124K|MARCH8_ENST00000453424.2_Missense_Mutation_p.E406K	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	124					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E124K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTGCAGAGCTCGCAGCAGCGC	0.587																																					p.E124K	NSCLC(102;658 1594 2173 16344 34808)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	10						.						72.0	66.0	68.0					10																	45956732		2203	4300	6503	45276738	SO:0001583	missense	220972	exon5			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.370G>A	10.37:g.45956732C>T	ENSP00000317087:p.Glu124Lys	Somatic		Capture	Illumina HiSeq	Phase_I	45276738	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.771961|5.771961	0.96922|0.96922	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769|ENST00000453424	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87597|0.87597	0.6217|0.6217	H|H	0.95079|0.95079	3.62|3.62	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.97110|.	1.0;0.987|.	D|D	0.90495|0.90495	0.4470|0.4470	10|5	0.87932|.	D|.	0|.	-24.139|-24.139	17.7332|17.7332	0.88384|0.88384	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124;288|.	Q5T0T0;Q5JQ16|.	MARH8_HUMAN;.|.	K|Q	124|288	ENSP00000379118:E124K;ENSP00000317087:E124K;ENSP00000379116:E124K|.	ENSP00000317087:E124K|.	E|R	-|-	1|2	0|0	MARCH8|MARCH8	45276738|45276738	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.894000|0.894000	0.52154|0.52154	7.776000|7.776000	0.85560|0.85560	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.587	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
ZFAND4	93550	broad.mit.edu	37	10	46143749	46143749	+	Missense_Mutation	SNP	G	G	A	rs146833659		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:46143749G>A	ENST00000344646.5	-	5	777	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.R114C|ZFAND4_ENST00000374371.2_Missense_Mutation_p.R188C	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	188							zinc ion binding (GO:0008270)	p.R188C(1)									TACCTCATACGATGTTCTCCT	0.383																																					p.R188C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562T	10						.	A	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77.0	73.0	74.0		562,562	-5.1	0.0	10	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	188/728,188/728	46143749	1,13005	2203	4300	6503	45463755	SO:0001583	missense	93550	exon5			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.562C>T	10.37:g.46143749G>A	ENSP00000339484:p.Arg188Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45463755	NM_001128324	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	g	8.451	0.853030	0.17106	0.0	1.16E-4	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.51574	1.88;0.7;1.88	4.05	-5.07	0.02938	.	3.608530	0.01285	N	0.009872	T	0.31389	0.0795	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.46703	T	0.11	-24.5088	5.8799	0.18850	0.5348:0.0:0.3213:0.1438	.	188;188	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	C	188;188;114;188;70	ENSP00000339484:R188C;ENSP00000363491:R188C;ENSP00000363486:R114C	ENSP00000339484:R188C	R	-	1	0	ANUBL1	45463755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.610000	0.05629	-1.128000	0.02922	-1.969000	0.00466	CGT		0.383	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	
FAM21C	253725	broad.mit.edu	37	10	46248104	46248104	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:46248104G>T	ENST00000336378.4	+	12	1190	c.1072G>T	c.(1072-1074)Ggt>Tgt	p.G358C	FAM21C_ENST00000537517.1_Missense_Mutation_p.G334C|FAM21C_ENST00000540872.1_Missense_Mutation_p.G358C|FAM21C_ENST00000359860.4_Missense_Mutation_p.G302C|FAM21C_ENST00000374362.2_Missense_Mutation_p.G358C	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	358					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.G357C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGGCTCTGGAGGTGGCCTGTT	0.552																																					p.G358C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1072T	10						.						94.0	106.0	102.0					10																	46248104		1906	4116	6022	45568110	SO:0001583	missense	253725	exon12				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1072G>T	10.37:g.46248104G>T	ENSP00000337541:p.Gly358Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45568110	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	G	12.56	1.974663	0.34848	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.52	3.52	0.40303	.	0.096550	0.64402	D	0.000001	T	0.78935	0.4362	M	0.82923	2.615	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82542	-0.0405	9	0.72032	D	0.01	-7.5666	12.9281	0.58272	0.0:0.0:1.0:0.0	.	334;358;358;303	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	C	358;358;334;358;358;302;270	.	ENSP00000337541:G358C	G	+	1	0	FAM21C	45568110	1.000000	0.71417	0.094000	0.20943	0.061000	0.15899	3.930000	0.56522	1.957000	0.56846	0.603000	0.83216	GGT		0.552	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
FAM21C	253725	broad.mit.edu	37	10	46250413	46250413	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:46250413G>A	ENST00000336378.4	+	15	1388	c.1270G>A	c.(1270-1272)Gtt>Att	p.V424I	FAM21C_ENST00000537517.1_Missense_Mutation_p.V400I|FAM21C_ENST00000540872.1_Missense_Mutation_p.V424I|FAM21C_ENST00000359860.4_Missense_Mutation_p.V368I|FAM21C_ENST00000374362.2_Missense_Mutation_p.V424I	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	424					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.V423I(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGCTGCCTCCGTTCCATCACT	0.532																																					p.V424I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	10						.						52.0	56.0	55.0					10																	46250413		1958	4153	6111	45570419	SO:0001583	missense	253725	exon15				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1270G>A	10.37:g.46250413G>A	ENSP00000337541:p.Val424Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45570419	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697045	0.00725	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.4	0.0321	0.14174	.	0.838162	0.10779	N	0.635044	T	0.17662	0.0424	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.002	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.21552	-1.0242	9	0.33141	T	0.24	-0.9984	5.1777	0.15143	0.2326:0.1744:0.5931:0.0	.	400;424;424;369	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	I	424;424;400;424;424;368;336	.	ENSP00000337541:V424I	V	+	1	0	FAM21C	45570419	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.224000	0.09164	-0.019000	0.14055	-0.942000	0.02676	GTT		0.532	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
FAM21C	253725	broad.mit.edu	37	10	46250532	46250532	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:46250532C>A	ENST00000336378.4	+	15	1507	c.1389C>A	c.(1387-1389)ttC>ttA	p.F463L	FAM21C_ENST00000537517.1_Missense_Mutation_p.F439L|FAM21C_ENST00000540872.1_Missense_Mutation_p.F463L|FAM21C_ENST00000359860.4_Missense_Mutation_p.F407L|FAM21C_ENST00000374362.2_Missense_Mutation_p.F463L	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	463					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.F462L(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						acgaCTTTTTCTCGGCACCCC	0.488																																					p.F463L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1389A	10						.						43.0	45.0	44.0					10																	46250532		1868	4109	5977	45570538	SO:0001583	missense	253725	exon15				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1389C>A	10.37:g.46250532C>A	ENSP00000337541:p.Phe463Leu	Somatic		Capture	Illumina HiSeq	Phase_I	45570538	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	C	6.889	0.533501	0.13188	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.4	-1.0	0.10196	.	0.048058	0.85682	D	0.000000	T	0.65512	0.2698	M	0.78223	2.4	0.36431	D	0.864928	D;D;D;D	0.89917	0.99;1.0;1.0;0.999	D;D;D;D	0.91635	0.979;0.999;0.999;0.995	T	0.68868	-0.5295	9	0.08599	T	0.76	-14.8231	6.6018	0.22705	0.0:0.4725:0.0:0.5275	.	439;463;463;408	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	L	463;463;439;463;463;407;375	.	ENSP00000337541:F463L	F	+	3	2	FAM21C	45570538	0.013000	0.17824	0.078000	0.20375	0.012000	0.07955	0.041000	0.13927	-0.336000	0.08438	-0.478000	0.04885	TTC		0.488	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
FAM21C	253725	broad.mit.edu	37	10	46265057	46265057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:46265057C>T	ENST00000336378.4	+	20	2142	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V	FAM21C_ENST00000537517.1_Missense_Mutation_p.A653V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A677V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A619V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A677V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	675					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.A674V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGCCATTGCCAAGGACAGG	0.483																																					p.A677V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2030T	10						.						266.0	250.0	255.0					10																	46265057		1914	4118	6032	45585063	SO:0001583	missense	253725	exon20				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2024C>T	10.37:g.46265057C>T	ENSP00000337541:p.Ala675Val	Somatic		Capture	Illumina HiSeq	Phase_I	45585063	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	C	17.74	3.465083	0.63513	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	3.29	0.37713	.	0.415470	0.24942	N	0.034366	T	0.67173	0.2865	M	0.75447	2.3	0.32865	D	0.508434	D;D;D;D	0.71674	0.998;0.99;0.99;0.992	D;P;P;P	0.80764	0.994;0.758;0.758;0.781	T	0.71866	-0.4463	9	0.30078	T	0.28	-14.0114	10.2223	0.43205	0.0:1.0:0.0:0.0	.	653;677;675;620	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	V	675;677;653;677;677;619;589	.	ENSP00000337541:A675V	A	+	2	0	FAM21C	45585063	1.000000	0.71417	0.872000	0.34217	0.832000	0.47134	3.632000	0.54287	1.836000	0.53414	0.549000	0.68633	GCC		0.483	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
GDF10	2662	broad.mit.edu	37	10	48426758	48426758	+	Missense_Mutation	SNP	C	C	T	rs201137861		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:48426758C>T	ENST00000224605.2	-	3	1514	c.1249G>A	c.(1249-1251)Gtt>Att	p.V417I		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	417					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.V417I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GATGGACGAACGATCTGCAAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19840	0.0		0.0	False		,,,				2504	0.0				p.V417I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1249A	10						.						137.0	118.0	124.0					10																	48426758		2203	4300	6503	48046764	SO:0001583	missense	2662	exon3			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1249G>A	10.37:g.48426758C>T	ENSP00000224605:p.Val417Ile	Somatic	954	Capture	Illumina HiSeq	Phase_I	48046764	NM_004962	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.52	3.147540	0.57151	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.63096	-0.02	5.93	5.03	0.67393	Transforming growth factor-beta, C-terminal (3);	0.201225	0.45606	N	0.000346	T	0.70011	0.3175	L	0.49640	1.575	0.39554	D	0.969017	D;D	0.76494	0.999;0.999	P;D	0.63793	0.812;0.918	T	0.73304	-0.4025	10	0.62326	D	0.03	.	9.9416	0.41583	0.0:0.79:0.1379:0.0721	.	227;417	Q8N6T2;P55107	.;BMP3B_HUMAN	I	227;417	ENSP00000224605:V417I	ENSP00000224605:V417I	V	-	1	0	GDF10	48046764	0.999000	0.42202	0.628000	0.29241	0.281000	0.26958	4.430000	0.59907	1.532000	0.49169	0.655000	0.94253	GTT		0.582	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
GDF10	2662	broad.mit.edu	37	10	48428830	48428830	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:48428830C>T	ENST00000224605.2	-	2	1321	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	352					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.S352S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCAGCACCTGCGAGGCGGCCA	0.642																																					p.S352S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1056A	10						.						77.0	67.0	71.0					10																	48428830		2203	4300	6503	48048836	SO:0001819	synonymous_variant	2662	exon2			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1056G>A	10.37:g.48428830C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48048836	NM_004962	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																				0.642	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
FRMPD2	143162	broad.mit.edu	37	10	49393632	49393632	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:49393632G>A	ENST00000374201.3	-	18	2625	c.2323C>T	c.(2323-2325)Cgt>Tgt	p.R775C	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R743C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R750C	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	775	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R775C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGTCACACGTACAATTTCT	0.507																																					p.R775C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2323T	10						.						195.0	168.0	178.0					10																	49393632		2203	4300	6503	49063638	SO:0001583	missense	143162	exon18			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2323C>T	10.37:g.49393632G>A	ENSP00000363317:p.Arg775Cys	Somatic		Capture	Illumina HiSeq	Phase_I	49063638	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390569	0.25118	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39056	1.1;1.1;1.1	5.44	-2.66	0.06077	PDZ/DHR/GLGF (2);	.	.	.	.	T	0.30448	0.0765	L	0.37561	1.115	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21690	-1.0238	9	0.27785	T	0.31	.	12.5314	0.56117	0.8314:0.0:0.1686:0.0	.	750;775;743	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	C	775;750;743	ENSP00000363317:R775C;ENSP00000307079:R750C;ENSP00000384339:R743C	ENSP00000307079:R750C	R	-	1	0	FRMPD2	49063638	0.185000	0.23213	0.000000	0.03702	0.001000	0.01503	0.911000	0.28584	-0.715000	0.04968	-1.105000	0.02106	CGT		0.507	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
ERCC6	2074	broad.mit.edu	37	10	50681626	50681626	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50681626T>C	ENST00000355832.5	-	14	2684	c.2606A>G	c.(2605-2607)gAc>gGc	p.D869G	ERCC6_ENST00000542458.1_Missense_Mutation_p.D239G|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	869	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.D869G(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAGTATGTCCAGCATCTG	0.423								Direct reversal of damage;Nucleotide excision repair (NER)																													p.D869G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2606G	10						.						227.0	202.0	210.0					10																	50681626		2203	4300	6503	50351632	SO:0001583	missense	2074	exon14			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2606A>G	10.37:g.50681626T>C	ENSP00000348089:p.Asp869Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50351632	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105819	0.56291	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.78707	-1.2;-1.2	5.17	5.17	0.71159	Helicase, C-terminal (2);	.	.	.	.	T	0.79505	0.4457	M	0.81942	2.565	0.34300	D	0.68429	B;B	0.18310	0.027;0.019	B;B	0.18561	0.008;0.022	T	0.82851	-0.0253	9	0.52906	T	0.07	-4.512	15.1659	0.72825	0.0:0.0:0.0:1.0	.	869;246	Q03468;Q59FF6	ERCC6_HUMAN;.	G	869;246;239	ENSP00000348089:D869G;ENSP00000445134:D239G	ENSP00000348089:D869G	D	-	2	0	ERCC6	50351632	1.000000	0.71417	0.981000	0.43875	0.960000	0.62799	4.100000	0.57762	2.163000	0.67991	0.482000	0.46254	GAC		0.423	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PGBD3	267004	broad.mit.edu	37	10	50724326	50724326	+	Missense_Mutation	SNP	G	G	A	rs368470553		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50724326G>A	ENST00000374127.3	-	2	1036	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R747C|PGBD3_ENST00000508005.2_Missense_Mutation_p.R279C|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R747C|PGBD3_ENST00000603152.1_Missense_Mutation_p.R747C|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	279								p.R279C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACCCGTGACGACCAAAATAA	0.418																																					p.R279C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C835T	10						.	G	,CYS/ARG	0,4406		0,0,2203	41.0	38.0	39.0		,835	0.5	0.1	10		39	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ERCC6,PGBD3	NM_000124.2,NM_170753.2	,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,279/594	50724326	1,13005	2203	4300	6503	50394332	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.835C>T	10.37:g.50724326G>A	ENSP00000363242:p.Arg279Cys	Somatic		Capture	Illumina HiSeq	Phase_I	50394332	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296224	0.23650	0.0	1.16E-4	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	0.468	0.468	0.16732	.	.	.	.	.	T	0.34542	0.0901	L	0.46819	1.47	0.09310	N	1	D;D	0.89917	0.997;1.0	P;D	0.97110	0.523;1.0	T	0.10800	-1.0614	8	0.72032	D	0.01	-22.6035	.	.	.	.	747;279	E7EV46;Q8N328	.;PGBD3_HUMAN	C	279;279;747;747	ENSP00000363242:R279C;ENSP00000426963:R279C;ENSP00000423550:R747C;ENSP00000387966:R747C	ENSP00000387966:R747C	R	-	1	0	PGBD3;RP11-123B3.6	50394332	0.008000	0.16893	0.116000	0.21606	0.113000	0.19764	0.147000	0.16202	0.488000	0.27723	0.491000	0.48974	CGT		0.418	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
ERCC6	2074	broad.mit.edu	37	10	50732131	50732131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50732131C>T	ENST00000355832.5	-	5	1423	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	PGBD3_ENST00000374127.3_De_novo_Start_InFrame|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.V449M|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.V449M|PGBD3_ENST00000603152.1_Missense_Mutation_p.V449M	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	449					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.V449M(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATCTTCCCACTTTCCGACCT	0.443								Direct reversal of damage;Nucleotide excision repair (NER)																													p.V449M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345A	10						.						156.0	166.0	163.0					10																	50732131		2203	4300	6503	50402137	SO:0001583	missense	2074	exon5			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1345G>A	10.37:g.50732131C>T	ENSP00000348089:p.Val449Met	Somatic		Capture	Illumina HiSeq	Phase_I	50402137	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796138	0.50208	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.83992	-1.79;2.95;2.95	6.02	3.74	0.42951	.	.	.	.	.	T	0.76637	0.4015	L	0.50333	1.59	0.09310	N	1	B;B	0.30973	0.302;0.085	B;B	0.26770	0.073;0.039	T	0.63269	-0.6675	9	0.33940	T	0.23	-4.5137	10.3332	0.43835	0.0:0.7346:0.0:0.2654	.	449;449	E7EV46;Q03468	.;ERCC6_HUMAN	M	449	ENSP00000348089:V449M;ENSP00000423550:V449M;ENSP00000387966:V449M	ENSP00000348089:V449M	V	-	1	0	ERCC6;RP11-123B3.6	50402137	0.000000	0.05858	0.001000	0.08648	0.538000	0.34931	0.041000	0.13927	0.840000	0.34995	0.655000	0.94253	GTG		0.443	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642																																					p.A295A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885T	10						.						64.0	61.0	62.0					10																	50819671		2203	4300	6503	50489677	SO:0001819	synonymous_variant	6572	exon1			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	10.37:g.50819671C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50489677	NM_003055	B2R7S1	Silent	SNP	ENST00000374115.3	37	CCDS7231.1																																																																																				0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
SLC18A3	6572	broad.mit.edu	37	10	50819926	50819926	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50819926C>T	ENST00000374115.3	+	1	1580	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	380					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.F380F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCGCTCCTTCGCGCCGCTAG	0.677																																					p.F380F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140T	10						.						29.0	30.0	30.0					10																	50819926		2202	4297	6499	50489932	SO:0001819	synonymous_variant	6572	exon1			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1140C>T	10.37:g.50819926C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50489932	NM_003055	B2R7S1	Silent	SNP	ENST00000374115.3	37	CCDS7231.1																																																																																				0.677	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
CHAT	1103	broad.mit.edu	37	10	50827877	50827877	+	Missense_Mutation	SNP	T	T	G	rs148155075		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:50827877T>G	ENST00000337653.2	+	3	647	c.494T>G	c.(493-495)aTt>aGt	p.I165S	CHAT_ENST00000339797.1_Missense_Mutation_p.I47S|CHAT_ENST00000455728.2_Missense_Mutation_p.I47S|CHAT_ENST00000395562.2_Missense_Mutation_p.I83S|CHAT_ENST00000395559.2_Missense_Mutation_p.I47S|CHAT_ENST00000351556.3_Missense_Mutation_p.I47S|CHAT_ENST00000460699.1_3'UTR	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	165					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.I165S(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGCCAGGCCATTGTGCAGCAG	0.637																																					p.I47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T140G	10						.						38.0	35.0	36.0					10																	50827877		2203	4300	6503	50497883	SO:0001583	missense	1103	exon3			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.494T>G	10.37:g.50827877T>G	ENSP00000337103:p.Ile165Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50497883	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186740	0.57909	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.09	5.09	0.68999	.	0.221723	0.39834	N	0.001246	D	0.93311	0.7868	M	0.65975	2.015	0.39194	D	0.963029	D;D	0.89917	0.994;1.0	D;D	0.72982	0.913;0.979	D	0.94717	0.7897	10	0.87932	D	0	-10.8437	14.8597	0.70372	0.0:0.0:0.0:1.0	.	47;165	F8W8I2;P28329	.;CLAT_HUMAN	S	47;47;47;165;83;47	ENSP00000343486:I47S;ENSP00000345878:I47S;ENSP00000378926:I47S;ENSP00000337103:I165S;ENSP00000378929:I83S;ENSP00000390521:I47S	ENSP00000337103:I165S	I	+	2	0	CHAT	50497883	1.000000	0.71417	0.894000	0.35097	0.088000	0.18126	8.040000	0.89188	1.926000	0.55796	0.379000	0.24179	ATT		0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
TIMM23	100287932	broad.mit.edu	37	10	51592611	51592611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:51592611G>A	ENST00000260867.4	-	7	646	c.523C>T	c.(523-525)Cga>Tga	p.R175*	TIMM23_ENST00000374065.3_Nonsense_Mutation_p.R138*|TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374064.3_Nonsense_Mutation_p.R127*	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	175					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.R175*(1)		endometrium(1)|large_intestine(1)|pancreas(1)	3						GCTATCCCTCGAAGACCACCT	0.443																																					p.R175X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C523T	10						.						99.0	94.0	96.0					10																	51592611		2203	4300	6503	51262617	SO:0001587	stop_gained	8505	exon7			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.523C>T	10.37:g.51592611G>A	ENSP00000260867:p.Arg175*	Somatic		Capture	Illumina HiSeq	Phase_I	51262617	NM_006327	Q53FF8|Q5T1E6|Q6P5S5	Nonsense_Mutation	SNP	ENST00000260867.4	37	CCDS7238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.346408|5.346408	0.95807|0.95807	.|.	.|.	ENSG00000138297|ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065|ENST00000444743	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.072254|.	0.51477|.	D|.	0.000086|.	.|T	.|0.75287	.|0.3829	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72827	.|-0.4175	.|4	0.02654|.	T|.	1|.	-13.2297|-13.2297	19.3813|19.3813	0.94536|0.94536	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	175;127;138|72	.|.	ENSP00000260867:R175X|.	R|S	-|-	1|2	2|0	TIMM23|TIMM23	51262617|51262617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.274000|4.274000	0.58921|0.58921	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.443	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2	
SGMS1	259230	broad.mit.edu	37	10	52071131	52071131	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:52071131G>T	ENST00000361781.2	-	9	1745	c.786C>A	c.(784-786)ctC>ctA	p.L262L	SGMS1_ENST00000429490.1_Silent_p.L93L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	268					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.L262L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCAGCAATGAGCTTCATTA	0.443																																					p.L262L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786A	10						.						111.0	78.0	90.0					10																	52071131		2203	4300	6503	51741137	SO:0001819	synonymous_variant	259230	exon9			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.786C>A	10.37:g.52071131G>T		Somatic		Capture	Illumina HiSeq	Phase_I	51741137	NM_147156	Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	CCDS7240.1																																																																																				0.443	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156	
SGMS1	259230	broad.mit.edu	37	10	52087061	52087061	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:52087061A>C	ENST00000361781.2	-	8	1604	c.645T>G	c.(643-645)ttT>ttG	p.F215L	SGMS1_ENST00000361543.2_3'UTR|SGMS1_ENST00000429490.1_Missense_Mutation_p.F46L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	221					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.F215L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTATGCAGAAAAATCTTCTGC	0.378																																					p.F215L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T645G	10						.						80.0	77.0	78.0					10																	52087061		2203	4300	6503	51757067	SO:0001583	missense	259230	exon8			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.645T>G	10.37:g.52087061A>C	ENSP00000354829:p.Phe215Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51757067	NM_147156	Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564130	0.45694	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.45276	0.9	5.73	3.39	0.38822	.	0.053636	0.85682	D	0.000000	T	0.28001	0.0690	N	0.20610	0.595	0.80722	D	1	P;B	0.46621	0.881;0.004	P;B	0.45138	0.471;0.008	T	0.02371	-1.1169	10	0.16896	T	0.51	-8.0249	8.8203	0.35020	0.8444:0.0:0.1556:0.0	.	46;221	B4DJU2;Q86VZ5	.;SMS1_HUMAN	L	15;215;46	ENSP00000354829:F215L	ENSP00000354829:F215L	F	-	3	2	SGMS1	51757067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.413000	0.34725	0.527000	0.28560	0.533000	0.62120	TTT		0.378	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156	
PCDH15	65217	broad.mit.edu	37	10	55566574	55566574	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55566574T>G	ENST00000373965.2	-	36	5214	c.4820A>C	c.(4819-4821)aAa>aCa	p.K1607T	PCDH15_ENST00000414778.1_Missense_Mutation_p.K1604T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.K1604T(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCATTCATTTTTTCAGTAGA	0.468										HNSCC(58;0.16)																											p.K1605T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4814C	10						.						286.0	261.0	269.0					10																	55566574		1568	3582	5150	55236580	SO:0001583	missense	0	exon35			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4820A>C	10.37:g.55566574T>G	ENSP00000363076:p.Lys1607Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55236580	NM_001142771	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	IGR	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	T	16.83	3.230831	0.58777	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.59638	0.25;0.3	5.71	5.71	0.89125	.	.	.	.	.	T	0.61464	0.2349	L	0.60455	1.87	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.47206	0.541;0.541	T	0.67233	-0.5722	9	0.87932	D	0	.	15.6507	0.77091	0.0:0.0:0.0:1.0	.	1598;1604	C6ZEF7;C9J4F3	.;.	T	1607;1604;1600	ENSP00000363076:K1607T;ENSP00000410304:K1604T	ENSP00000363076:K1607T	K	-	2	0	PCDH15	55236580	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.963000	0.49184	2.180000	0.69256	0.533000	0.62120	AAA		0.468	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55568837	55568837	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55568837T>C	ENST00000395445.1	-	36	5367	c.4973A>G	c.(4972-4974)aAc>aGc	p.N1658S	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.N592S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N523S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N854S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGCACAATGTTTTTCCTTGC	0.468										HNSCC(58;0.16)																											p.N1663S												.	.	0			c.A4988G	10						.						124.0	95.0	104.0					10																	55568837		1568	3582	5150	55238843	SO:0001583	missense	0	exon36			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4973A>G	10.37:g.55568837T>C	ENSP00000378832:p.Asn1658Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55238843	NM_001142769	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	IGR	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	T	10.45	1.354782	0.24512	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.96830	2.28;-4.14;-4.14;-4.14	5.55	3.21	0.36854	.	.	.	.	.	D	0.90724	0.7089	N	0.14661	0.345	0.27042	N	0.963995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.83580	0.0117	9	0.72032	D	0.01	.	8.3054	0.32038	0.0:0.2766:0.0:0.7234	.	1656;1658	C6ZEF5;A2A3E2	.;.	S	1658;854;523;592	ENSP00000378832:N1658S;ENSP00000378833:N854S;ENSP00000378829:N523S;ENSP00000378827:N592S	ENSP00000378827:N592S	N	-	2	0	PCDH15	55238843	0.895000	0.30542	0.055000	0.19348	0.448000	0.32197	1.504000	0.35726	0.394000	0.25230	0.533000	0.62120	AAC		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55581707	55581707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55581707C>A	ENST00000320301.6	-	33	6173	c.5779G>T	c.(5779-5781)Gaa>Taa	p.E1927*	PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1924*|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1929*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1887*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1904*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1858*|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E781*|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1927					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E1927*(1)|p.E1934*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATTTCCATATTTGTT	0.343										HNSCC(58;0.16)																											p.E1927X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G5779T	10						.						176.0	160.0	165.0					10																	55581707		2203	4300	6503	55251713	SO:0001587	stop_gained	65217	exon33			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5779G>T	10.37:g.55581707C>A	ENSP00000322604:p.Glu1927*	Somatic		Capture	Illumina HiSeq	Phase_I	55251713	NM_033056	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	45	11.914907	0.99617	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.0	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	10.1672	0.42888	0.0:0.8334:0.0:0.1666	.	.	.	.	X	1887;1929;1904;781;1927;1924;1934;1858	.	ENSP00000322604:E1927X	E	-	1	0	PCDH15	55251713	0.995000	0.38212	0.302000	0.25058	0.591000	0.36615	2.616000	0.46376	0.501000	0.28013	0.591000	0.81541	GAA		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55582412	55582412	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55582412A>T	ENST00000320301.6	-	33	5468	c.5074T>A	c.(5074-5076)Tct>Act	p.S1692T	PCDH15_ENST00000395430.1_Missense_Mutation_p.S1689T|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1694T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1652T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1669T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1623T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1692					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S1699T(1)|p.S1692T(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGCAGGAGAACTGATGACA	0.418										HNSCC(58;0.16)																											p.S1692T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5074A	10						.						123.0	122.0	122.0					10																	55582412		2203	4300	6503	55252418	SO:0001583	missense	65217	exon33			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5074T>A	10.37:g.55582412A>T	ENSP00000322604:p.Ser1692Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55252418	NM_033056	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651177	0.29336	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.59083	0.33;0.31;0.34;0.31;0.3;0.29	4.84	3.71	0.42584	.	.	.	.	.	T	0.38639	0.1048	N	0.19112	0.55	0.26758	N	0.970054	P;P;P;P;P;P;P;P	0.42203	0.773;0.615;0.462;0.615;0.749;0.615;0.647;0.462	B;B;B;B;B;B;B;B	0.40165	0.321;0.254;0.254;0.254;0.254;0.254;0.263;0.254	T	0.15378	-1.0439	9	0.36615	T	0.2	.	4.5214	0.11960	0.6176:0.0:0.0916:0.2908	.	1669;1692;1694;1699;1623;1652;1689;1692	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	T	1652;1694;1669;1692;1689;1699;1623	ENSP00000378820:S1652T;ENSP00000354950:S1694T;ENSP00000378821:S1669T;ENSP00000322604:S1692T;ENSP00000378818:S1689T;ENSP00000412628:S1623T	ENSP00000322604:S1692T	S	-	1	0	PCDH15	55252418	0.758000	0.28405	0.582000	0.28627	0.243000	0.25628	1.040000	0.30278	0.706000	0.31912	0.533000	0.62120	TCT		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55912989	55912989	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55912989G>T	ENST00000320301.6	-	14	2049	c.1655C>A	c.(1654-1656)gCt>gAt	p.A552D	PCDH15_ENST00000395430.1_Missense_Mutation_p.A552D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A552D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A559D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A559D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A552D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A552D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A515D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A552D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A530D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A552D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A557D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A530D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A163D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A557D(2)|p.A552D(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTCCCTGAGCCCCAACAAG	0.488										HNSCC(58;0.16)																											p.A564D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1691A	10						.						158.0	144.0	149.0					10																	55912989		2203	4300	6503	55582995	SO:0001583	missense	65217	exon16			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1655C>A	10.37:g.55912989G>T	ENSP00000322604:p.Ala552Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55582995	NM_001142769	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022888	0.19433	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.41	0.503	0.16940	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25044	0.0608	N	0.04148	-0.265	0.31380	N	0.679153	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.005;0.001;0.001;0.001;0.005;0.0;0.008;0.008;0.0;0.0;0.0;0.001;0.005	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.009;0.009;0.02;0.006;0.009;0.009;0.009;0.002;0.013;0.044;0.002;0.002;0.002;0.009;0.009	T	0.36286	-0.9754	9	0.06625	T	0.88	.	9.8246	0.40903	0.0:0.1034:0.4262:0.4705	.	530;552;552;557;552;515;552;552;559;559;552;557;552;530;552	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	559;557;552;552;163;559;552;515;552;530;530;552;552;557;552;552	ENSP00000363076:A559D;ENSP00000410304:A557D;ENSP00000378826:A552D;ENSP00000386693:A163D;ENSP00000378832:A559D;ENSP00000378833:A552D;ENSP00000378820:A515D;ENSP00000354950:A552D;ENSP00000378821:A530D;ENSP00000363068:A530D;ENSP00000322604:A552D;ENSP00000378818:A552D;ENSP00000412628:A552D;ENSP00000363066:A552D	ENSP00000322604:A552D	A	-	2	0	PCDH15	55582995	0.956000	0.32656	0.997000	0.53966	0.995000	0.86356	0.553000	0.23391	0.301000	0.22738	0.557000	0.71058	GCT		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55996666	55996666	+	Missense_Mutation	SNP	G	G	A	rs370933593		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55996666G>A	ENST00000320301.6	-	9	1296	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373965.2_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T306M(2)|p.T301M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTGGTGGCGTAACAATAAT	0.403										HNSCC(58;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		14172	0.0		0.0	False		,,,				2504	0.001				p.T306M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C917T	10						.						171.0	163.0	166.0					10																	55996666		2203	4300	6503	55666672	SO:0001583	missense	65217	exon10			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.902C>T	10.37:g.55996666G>A	ENSP00000322604:p.Thr301Met	Somatic		Capture	Illumina HiSeq	Phase_I	55666672	NM_001142769	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820342	0.50633	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	1.16;1.16;1.16;1.16;1.16;1.16;1.16;0.37;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.19	3.32	0.38043	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.70064	0.3181	M	0.80982	2.52	0.53688	D	0.999975	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.995;0.995;0.999;0.997;0.999;0.999;0.997;0.997;0.997;0.999;1.0;0.999;0.995	T	0.69367	-0.5164	9	0.51188	T	0.08	.	9.6564	0.39928	0.0791:0.1426:0.7783:0.0	.	279;301;301;306;301;264;301;301;301;301;301;306;301;279;301	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	M	301;306;301;301;301;301;301;301;264;301;279;279;301;301;306;301;301	ENSP00000363076:T301M;ENSP00000410304:T306M;ENSP00000378826:T301M;ENSP00000378832:T301M;ENSP00000378833:T301M;ENSP00000378829:T301M;ENSP00000378827:T301M;ENSP00000378820:T264M;ENSP00000354950:T301M;ENSP00000378821:T279M;ENSP00000363068:T279M;ENSP00000322604:T301M;ENSP00000378818:T301M;ENSP00000412628:T301M;ENSP00000363066:T301M	ENSP00000322604:T301M	T	-	2	0	PCDH15	55666672	1.000000	0.71417	0.568000	0.28447	0.333000	0.28666	5.594000	0.67557	0.577000	0.29470	0.650000	0.86243	ACG		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ANK3	288	broad.mit.edu	37	10	61815483	61815483	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:61815483G>T	ENST00000280772.2	-	42	13189	c.12998C>A	c.(12997-12999)tCt>tAt	p.S4333Y	ANK3_ENST00000373827.2_Missense_Mutation_p.S1817Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S957Y|ANK3_ENST00000503366.1_Missense_Mutation_p.S1824Y|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4333					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S4333Y(1)|p.S957Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCTGCTGGAGAAGTCCTACT	0.468																																					p.S4333Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C12998A	10						.						254.0	241.0	245.0					10																	61815483		2203	4300	6503	61485489	SO:0001583	missense	288	exon42			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12998C>A	10.37:g.61815483G>T	ENSP00000280772:p.Ser4333Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	61485489	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746182	0.69418	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.78924	-0.29;-0.54;-1.22;0.62;0.22;-0.54	5.5	4.59	0.56863	.	0.508870	0.14650	U	0.306653	T	0.64438	0.2598	N	0.14661	0.345	0.80722	D	1	P;B;B;P;P;B;B	0.40875	0.61;0.38;0.145;0.731;0.514;0.38;0.371	B;B;B;B;B;B;B	0.37387	0.248;0.125;0.085;0.163;0.246;0.125;0.065	T	0.67542	-0.5644	10	0.66056	D	0.02	.	14.2742	0.66170	0.0:0.1623:0.8377:0.0	.	1824;957;1817;4333;1058;957;356	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	Y	4333;1817;415;105;957;1824;1803;1058	ENSP00000280772:S4333Y;ENSP00000362933:S1817Y;ENSP00000362926:S415Y;ENSP00000423057:S105Y;ENSP00000347436:S957Y;ENSP00000425236:S1824Y	ENSP00000280772:S4333Y	S	-	2	0	ANK3	61485489	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	3.689000	0.54706	1.299000	0.44798	0.555000	0.69702	TCT		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	61829100	61829100	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:61829100G>T	ENST00000280772.2	-	37	11730	c.11539C>A	c.(11539-11541)Ctt>Att	p.L3847I	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3847					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L3847I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTTCTCCAAGAACTTTCTGC	0.418																																					p.L3847I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11539A	10						.						257.0	256.0	256.0					10																	61829100		2203	4300	6503	61499106	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11539C>A	10.37:g.61829100G>T	ENSP00000280772:p.Leu3847Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61499106	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535910	0.13188	.	.	ENSG00000151150	ENST00000280772	T	0.15834	2.39	5.07	5.07	0.68467	.	0.242632	0.21351	U	0.075963	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.23650	0.089	B	0.16722	0.016	T	0.29150	-1.0021	10	0.20046	T	0.44	.	14.1034	0.65072	0.0753:0.0:0.9247:0.0	.	3847	Q12955	ANK3_HUMAN	I	3847	ENSP00000280772:L3847I	ENSP00000280772:L3847I	L	-	1	0	ANK3	61499106	0.978000	0.34361	0.761000	0.31378	0.987000	0.75469	3.658000	0.54482	2.511000	0.84671	0.650000	0.86243	CTT		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
RHOBTB1	9886	broad.mit.edu	37	10	62634770	62634770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:62634770G>A	ENST00000337910.5	-	9	2094	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.A586V	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	586					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.A586V(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACTCGTGGCGGCTTTGGTCAA	0.522																																					p.A586V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1757T	10						.						89.0	86.0	87.0					10																	62634770		2203	4300	6503	62304776	SO:0001583	missense	9886	exon9			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1757C>T	10.37:g.62634770G>A	ENSP00000338671:p.Ala586Val	Somatic		Capture	Illumina HiSeq	Phase_I	62304776	NM_014836		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	5.506	0.278393	0.10403	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.15952	2.38;2.38	5.66	4.75	0.60458	.	0.239614	0.35378	N	0.003251	T	0.18425	0.0442	M	0.70595	2.14	0.43637	D	0.996037	B	0.12013	0.005	B	0.13407	0.009	T	0.10800	-1.0614	10	0.02654	T	1	.	14.8852	0.70564	0.0697:0.0:0.9303:0.0	.	586	O94844	RHBT1_HUMAN	V	586	ENSP00000350595:A586V;ENSP00000338671:A586V	ENSP00000338671:A586V	A	-	2	0	RHOBTB1	62304776	1.000000	0.71417	0.961000	0.40146	0.090000	0.18270	5.353000	0.66034	2.666000	0.90696	0.563000	0.77884	GCC		0.522	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1		
TMEM26	219623	broad.mit.edu	37	10	63188735	63188735	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:63188735G>A	ENST00000399298.3	-	4	922	c.554C>T	c.(553-555)gCg>gTg	p.A185V	TMEM26_ENST00000399293.1_Missense_Mutation_p.A185V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	185						integral component of membrane (GO:0016021)		p.A185V(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TATGTCAGCCGCTGTCCCCAC	0.443																																					p.A185V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554T	10						.						101.0	104.0	103.0					10																	63188735		1957	4154	6111	62858741	SO:0001583	missense	219623	exon4			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.554C>T	10.37:g.63188735G>A	ENSP00000382237:p.Ala185Val	Somatic		Capture	Illumina HiSeq	Phase_I	62858741	NM_178505	Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464395	0.84425	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.15	5.15	0.70609	.	0.204926	0.50627	D	0.000114	D	0.83358	0.5237	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85568	0.1232	9	0.87932	D	0	-28.1968	19.0126	0.92879	0.0:0.0:1.0:0.0	.	185	Q6ZUK4	TMM26_HUMAN	V	185;95;185	.	ENSP00000277749:A95V	A	-	2	0	TMEM26	62858741	1.000000	0.71417	0.992000	0.48379	0.406000	0.30931	9.406000	0.97321	2.592000	0.87571	0.585000	0.79938	GCG		0.443	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505	
ARID5B	84159	broad.mit.edu	37	10	63852307	63852307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:63852307C>T	ENST00000279873.7	+	10	3495	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	ARID5B_ENST00000309334.5_Missense_Mutation_p.R786W	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1029					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.R1029W(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAAAGGCCCGGGCAGTGTC	0.597																																					p.R1029W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3085T	10						.						62.0	70.0	67.0					10																	63852307		2203	4300	6503	63522313	SO:0001583	missense	84159	exon10			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3085C>T	10.37:g.63852307C>T	ENSP00000279873:p.Arg1029Trp	Somatic		Capture	Illumina HiSeq	Phase_I	63522313	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290852	0.59976	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.60548	0.21;0.18	5.72	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77718	-0.2483	10	0.87932	D	0	-17.2491	13.4627	0.61235	0.4244:0.5756:0.0:0.0	.	1029	Q14865	ARI5B_HUMAN	W	1029;786	ENSP00000279873:R1029W;ENSP00000308862:R786W	ENSP00000279873:R1029W	R	+	1	2	ARID5B	63522313	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.719000	0.38011	0.686000	0.31488	0.655000	0.94253	CGG		0.597	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
EGR2	1959	broad.mit.edu	37	10	64573268	64573268	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:64573268C>T	ENST00000242480.3	-	2	1455	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	EGR2_ENST00000439032.1_Missense_Mutation_p.R377H|EGR2_ENST00000411732.1_Missense_Mutation_p.R327H|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	377					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R377H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGAAGTTGCGCATGCAGAT	0.612																																					p.R327H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G980A	10						.						131.0	123.0	126.0					10																	64573268		2203	4300	6503	64243274	SO:0001583	missense	1959	exon3			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1130G>A	10.37:g.64573268C>T	ENSP00000242480:p.Arg377His	Somatic		Capture	Illumina HiSeq	Phase_I	64243274	NM_001136179	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396879	0.83120	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.03920	3.76;3.76;3.76	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.00161	-1.1972	10	0.87932	D	0	-18.1132	16.8725	0.86043	0.0:1.0:0.0:0.0	.	327;377	P11161-2;P11161	.;EGR2_HUMAN	H	377;377;327	ENSP00000242480:R377H;ENSP00000402040:R377H;ENSP00000387634:R327H	ENSP00000242480:R377H	R	-	2	0	EGR2	64243274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.495000	0.84180	0.655000	0.94253	CGC		0.612	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
JMJD1C	221037	broad.mit.edu	37	10	64937579	64937579	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:64937579G>C	ENST00000399262.2	-	23	7340	c.7122C>G	c.(7120-7122)gaC>gaG	p.D2374E	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D2192E|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D2137E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2374	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.D2137E(1)|p.D2374E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCTTAAAATGTCATCCAAAT	0.358																																					p.D2137E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6411G	10						.						139.0	127.0	131.0					10																	64937579		1836	4082	5918	64607585	SO:0001583	missense	221037	exon20			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7122C>G	10.37:g.64937579G>C	ENSP00000382204:p.Asp2374Glu	Somatic		Capture	Illumina HiSeq	Phase_I	64607585	NM_004241	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.946|6.946	0.544449|0.544449	0.13312|0.13312	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.50277|.	1.1;0.75;1.1|.	6.05|6.05	0.703|0.703	0.18116|0.18116	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.051225|.	0.85682|.	D|.	0.000000|.	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.03253|0.03253	-0.375|-0.375	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31548|.	0.328;0.069;0.0|.	B;B;B|.	0.29353|.	0.101;0.065;0.004|.	T|T	0.04320|0.04320	-1.0960|-1.0960	10|5	0.06891|.	T|.	0.86|.	-15.7179|-15.7179	5.9792|5.9792	0.19397|0.19397	0.4324:0.0:0.4503:0.1172|0.4324:0.0:0.4503:0.1172	.|.	2192;2374;2192|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	E|R	2374;2137;2192|921	ENSP00000382204:D2374E;ENSP00000384990:D2137E;ENSP00000444682:D2192E|.	ENSP00000382204:D2374E|.	D|T	-|-	3|2	2|0	JMJD1C|JMJD1C	64607585|64607585	0.329000|0.329000	0.24696|0.24696	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	-0.007000|-0.007000	0.12810|0.12810	0.090000|0.090000	0.17273|0.17273	0.650000|0.650000	0.86243|0.86243	GAC|ACA		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
LRRTM3	347731	broad.mit.edu	37	10	68687134	68687134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:68687134C>T	ENST00000361320.4	+	2	1038	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	154					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R154W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGAACAGTTTCGGGGCTTGCG	0.448																																					p.R154W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C460T	10						.						103.0	111.0	108.0					10																	68687134		2203	4300	6503	68357140	SO:0001583	missense	347731	exon2			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.460C>T	10.37:g.68687134C>T	ENSP00000355187:p.Arg154Trp	Somatic		Capture	Illumina HiSeq	Phase_I	68357140	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	7.795	0.712363	0.15306	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04654	3.58	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000023	T	0.06142	0.0159	L	0.43598	1.365	0.38436	D	0.946581	B;B	0.16166	0.016;0.002	B;B	0.15484	0.013;0.008	T	0.14559	-1.0468	10	0.66056	D	0.02	.	11.6731	0.51413	0.2845:0.7154:0.0:0.0	.	154;154	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	W	154	ENSP00000355187:R154W	ENSP00000355187:R154W	R	+	1	2	LRRTM3	68357140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.209000	0.51122	2.543000	0.85770	0.655000	0.94253	CGG		0.448	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
HERC4	26091	broad.mit.edu	37	10	69773912	69773912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:69773912C>A	ENST00000395198.3	-	9	1187	c.940G>T	c.(940-942)Gga>Tga	p.G314*	HERC4_ENST00000277817.6_Nonsense_Mutation_p.G204*|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Nonsense_Mutation_p.G314*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.G314*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	314					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G314*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TAAATTCGTCCTGATGAAGGA	0.413																																					p.G314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G940T	10						.						73.0	67.0	69.0					10																	69773912		2203	4300	6503	69443918	SO:0001587	stop_gained	26091	exon9			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.940G>T	10.37:g.69773912C>A	ENSP00000378624:p.Gly314*	Somatic		Capture	Illumina HiSeq	Phase_I	69443918	NM_022079	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Nonsense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	40	8.440813	0.98813	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	.	.	.	4.75	4.75	0.60458	.	0.100578	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6957	0.88281	0.0:1.0:0.0:0.0	.	.	.	.	X	204;314;314;314	.	ENSP00000277817:G204X	G	-	1	0	HERC4	69443918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.755000	0.74914	2.347000	0.79759	0.655000	0.94253	GGA		0.413	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	
DNA2	1763	broad.mit.edu	37	10	70192012	70192012	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:70192012A>C	ENST00000358410.3	-	12	1874	c.1824T>G	c.(1822-1824)agT>agG	p.S608R	DNA2_ENST00000399179.2_Missense_Mutation_p.S608R|DNA2_ENST00000399180.2_Missense_Mutation_p.S694R	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	608	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S608R(1)|p.S694R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAAGAACAGAACTAAGGTAGG	0.323																																					p.S694R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2082G	10						.						147.0	141.0	143.0					10																	70192012		1836	4086	5922	69862018	SO:0001583	missense	1763	exon12			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1824T>G	10.37:g.70192012A>C	ENSP00000351185:p.Ser608Arg	Somatic		Capture	Illumina HiSeq	Phase_I	69862018	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	A	18.47	3.631137	0.67015	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94046	-2.84;-3.34;-2.82	5.9	2.34	0.29019	.	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.79926	2.475	0.48696	D	0.999693	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.91995	0.5606	10	0.16420	T	0.52	.	8.5738	0.33585	0.5436:0.0:0.4564:0.0	.	608;608	F8VR31;P51530	.;DNA2L_HUMAN	R	608;694;608;608	ENSP00000382133:S694R;ENSP00000382132:S608R;ENSP00000351185:S608R	ENSP00000351185:S608R	S	-	3	2	DNA2	69862018	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.935000	0.40173	0.163000	0.19507	0.456000	0.33151	AGT		0.323	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
DNA2	1763	broad.mit.edu	37	10	70218913	70218913	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:70218913C>A	ENST00000358410.3	-	5	717	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	DNA2_ENST00000399179.2_Missense_Mutation_p.D223Y|DNA2_ENST00000399180.2_Missense_Mutation_p.D309Y|RNA5SP319_ENST00000362768.1_RNA	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	223	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.D223Y(1)|p.D309Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGCATGAAATCTCCTGCCCAT	0.338																																					p.D309Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G925T	10						.						92.0	83.0	86.0					10																	70218913		1844	4099	5943	69888919	SO:0001583	missense	1763	exon5			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.667G>T	10.37:g.70218913C>A	ENSP00000351185:p.Asp223Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	69888919	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	C	18.13	3.556137	0.65425	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94000	-2.83;-3.33;-2.82	5.46	4.55	0.56014	DNA replication factor Dna2 (1);	0.554792	0.15548	N	0.256583	D	0.95297	0.8474	L	0.56769	1.78	0.45822	D	0.998693	D;D	0.69078	0.993;0.997	P;D	0.67900	0.891;0.954	D	0.94663	0.7850	10	0.62326	D	0.03	.	13.3218	0.60436	0.0:0.9229:0.0:0.077	.	223;223	F8VR31;P51530	.;DNA2L_HUMAN	Y	223;309;223;223	ENSP00000382133:D309Y;ENSP00000382132:D223Y;ENSP00000351185:D223Y	ENSP00000351185:D223Y	D	-	1	0	DNA2	69888919	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	2.173000	0.42472	2.564000	0.86499	0.591000	0.81541	GAT		0.338	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
TET1	80312	broad.mit.edu	37	10	70332956	70332956	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:70332956G>A	ENST00000373644.4	+	2	1070	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	287					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.L287L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTCTTACCTGGATCCCATTA	0.428																																					p.L287L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861A	10						.						79.0	83.0	82.0					10																	70332956		2203	4300	6503	70002962	SO:0001819	synonymous_variant	80312	exon2			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.861G>A	10.37:g.70332956G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70002962	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
HKDC1	80201	broad.mit.edu	37	10	71025450	71025450	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:71025450C>T	ENST00000354624.5	+	17	2615	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	828	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.R828W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGTGTCCCGGCGGGCGGCCCA	0.642																																					p.R828W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2482T	10						.						41.0	42.0	42.0					10																	71025450		2201	4294	6495	70695456	SO:0001583	missense	80201	exon17				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2482C>T	10.37:g.71025450C>T	ENSP00000346643:p.Arg828Trp	Somatic		Capture	Illumina HiSeq	Phase_I	70695456	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224913	0.58668	.	.	ENSG00000156510	ENST00000354624	D	0.99652	-6.3	4.76	2.82	0.32997	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97431	1.0015	10	0.87932	D	0	-21.3067	14.3649	0.66799	0.5742:0.4258:0.0:0.0	.	828	Q2TB90	HKDC1_HUMAN	W	828	ENSP00000346643:R828W	ENSP00000346643:R828W	R	+	1	2	HKDC1	70695456	0.091000	0.21658	0.998000	0.56505	0.815000	0.46073	0.170000	0.16663	0.258000	0.21686	-1.357000	0.01221	CGG		0.642	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
COL13A1	1305	broad.mit.edu	37	10	71654457	71654457	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:71654457G>T	ENST00000398978.3	+	11	1122	c.630G>T	c.(628-630)aaG>aaT	p.K210N	COL13A1_ENST00000520133.1_Splice_Site_p.K181N|COL13A1_ENST00000398974.3_Splice_Site_p.K198N|COL13A1_ENST00000398969.3_Splice_Site_p.K172N|COL13A1_ENST00000398972.3_Splice_Site_p.K210N|COL13A1_ENST00000398968.3_Splice_Site_p.K210N|COL13A1_ENST00000354547.3_Splice_Site_p.K210N|COL13A1_ENST00000398966.3_Splice_Site_p.K210N|COL13A1_ENST00000356340.3_Splice_Site_p.K210N|COL13A1_ENST00000357811.3_Splice_Site_p.K210N|COL13A1_ENST00000398971.3_Splice_Site_p.K210N|COL13A1_ENST00000517713.1_Splice_Site_p.K210N|COL13A1_ENST00000522165.1_Splice_Site_p.K210N|COL13A1_ENST00000398973.3_Splice_Site_p.K210N|COL13A1_ENST00000398964.3_Splice_Site_p.K181N|COL13A1_ENST00000520267.1_Splice_Site_p.K172N	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.K210N(1)|p.K193N(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AAGGAGAAAAGGTAAGAGCAG	0.463																																					p.K210N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G630T	10						.						100.0	105.0	103.0					10																	71654457		1852	4102	5954	71324463	SO:0001630	splice_region_variant	1305	exon11			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.630+1G>T	10.37:g.71654457G>T		Somatic		Capture	Illumina HiSeq	Phase_I	71324463	NM_080800		Missense_Mutation	SNP	ENST00000398978.3	37	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045369	0.55110	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94092	-3.28;-3.28;-3.25;-3.25;-1.76;-3.35;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.35;-3.28;-3.28;-3.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.79926	2.475	0.52501	D	0.999952	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.991;0.996;0.999;0.991;0.999;0.999;0.999;0.991;0.999;0.999;0.999;0.999;0.997;0.989;0.999;0.999;0.999;0.989	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.995;0.991;0.99;0.994;0.991;0.997;0.997;0.997;0.991;0.997;0.997;0.994;0.994;0.996;0.985;0.994;0.994;0.997;0.985	D	0.96438	0.9324	10	0.52906	T	0.07	-9.8995	16.1583	0.81680	0.0:0.0:1.0:0.0	.	172;210;210;210;210;210;210;210;198;210;181;210;210;219;210;210;210;181;210	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	198;210;210;210;181;172;210;210;210;210;210;210;172;210;210;181	ENSP00000381946:K198N;ENSP00000381943:K210N;ENSP00000381940:K210N;ENSP00000381938:K210N;ENSP00000381936:K181N;ENSP00000381941:K172N;ENSP00000348695:K210N;ENSP00000381944:K210N;ENSP00000381945:K210N;ENSP00000381949:K210N;ENSP00000346553:K210N;ENSP00000350463:K210N;ENSP00000428057:K172N;ENSP00000430061:K210N;ENSP00000428342:K210N;ENSP00000430173:K181N	ENSP00000346553:K210N	K	+	3	2	COL13A1	71324463	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.415000	0.66411	2.627000	0.88993	0.650000	0.86243	AAG		0.463	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	Missense_Mutation
PALD1	27143	broad.mit.edu	37	10	72307154	72307154	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:72307154G>A	ENST00000263563.6	+	18	2482	c.2214G>A	c.(2212-2214)acG>acA	p.T738T		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	738						cytosol (GO:0005829)		p.T738T(1)									AGACCATGACGCCCATGCACT	0.647																																					p.T738T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2214A	10						.						140.0	110.0	121.0					10																	72307154		2203	4300	6503	71977160	SO:0001819	synonymous_variant	27143	exon18			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2214G>A	10.37:g.72307154G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71977160	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237781	0.22711	.	.	ENSG00000107719	ENST00000426268	.	.	.	4.03	-0.15	0.13416	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37103	-0.9720	4	.	.	.	-16.4213	4.6207	0.12449	0.5218:0.0:0.3216:0.1565	.	.	.	.	T	119	.	.	A	+	1	0	KIAA1274	71977160	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-1.950000	0.01530	0.053000	0.16036	0.551000	0.68910	GCC		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	
TBATA	219793	broad.mit.edu	37	10	72532301	72532301	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:72532301C>A	ENST00000299290.1	-	10	1328	c.939G>T	c.(937-939)aaG>aaT	p.K313N	TBATA_ENST00000394982.2_5'Flank	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	313					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.K313N(1)									AAGGTGATATCTTCGTTTTCT	0.517																																					p.K313N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G939T	10						.						201.0	196.0	198.0					10																	72532301		2203	4300	6503	72202307	SO:0001583	missense	219793	exon10			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.939G>T	10.37:g.72532301C>A	ENSP00000299290:p.Lys313Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72202307	NM_152710	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662674	0.29515	.	.	ENSG00000166220	ENST00000299290	T	0.53206	0.63	4.3	0.205	0.15204	.	0.911353	0.09257	N	0.827116	T	0.47395	0.1443	M	0.63428	1.95	0.09310	N	1	P;P;P	0.45212	0.853;0.693;0.693	P;P;P	0.45610	0.448;0.487;0.487	T	0.36040	-0.9764	10	0.40728	T	0.16	-4.2027	7.4046	0.26983	0.0:0.6155:0.0:0.3845	.	312;314;313	B7ZMN4;B7ZMN5;Q96M53	.;.;SPATL_HUMAN	N	313	ENSP00000299290:K313N	ENSP00000299290:K313N	K	-	3	2	C10orf27	72202307	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.363000	0.20301	-0.185000	0.10550	-1.069000	0.02264	AAG		0.517	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710	
UNC5B	219699	broad.mit.edu	37	10	73046460	73046460	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:73046460G>T	ENST00000335350.6	+	5	983	c.567G>T	c.(565-567)aaG>aaT	p.K189N	UNC5B_ENST00000373192.4_Missense_Mutation_p.K189N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	189	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.K189N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AATGGCTCAAGAATGAGGATG	0.582																																					p.K189N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G567T	10						.						202.0	173.0	183.0					10																	73046460		2203	4300	6503	72716466	SO:0001583	missense	219699	exon5			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.567G>T	10.37:g.73046460G>T	ENSP00000334329:p.Lys189Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72716466	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804655	0.70682	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51071	0.72;0.72	5.43	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092642	0.64402	D	0.000001	T	0.67599	0.2910	M	0.92268	3.29	0.80722	D	1	D;D	0.56968	0.973;0.978	P;P	0.56042	0.686;0.79	T	0.73736	-0.3889	10	0.87932	D	0	-29.6052	8.7403	0.34554	0.2261:0.0:0.7739:0.0	.	189;189	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	N	189	ENSP00000334329:K189N;ENSP00000362288:K189N	ENSP00000334329:K189N	K	+	3	2	UNC5B	72716466	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	2.607000	0.46300	1.304000	0.44892	0.561000	0.74099	AAG		0.582	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
SLC29A3	55315	broad.mit.edu	37	10	73115997	73115997	+	Missense_Mutation	SNP	C	C	T	rs148164425		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:73115997C>T	ENST00000373189.5	+	5	822	c.770C>T	c.(769-771)gCc>gTc	p.A257V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	257					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.A257V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGGAGTATGCCAGGTGAAGG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19846	0.0		0.0	False		,,,				2504	0.0				p.A257V	Esophageal Squamous(200;1319 2142 18949 31248 39672)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C770T	10						.	C	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	113.0	82.0	93.0		770,770	3.7	1.0	10	dbSNP_134	93	0,8600		0,0,4300	no	missense,missense	SLC29A3	NM_001174098.1,NM_018344.5	64,64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	257/259,257/476	73115997	2,13004	2203	4300	6503	72786003	SO:0001583	missense	55315	exon5			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.770C>T	10.37:g.73115997C>T	ENSP00000362285:p.Ala257Val	Somatic		Capture	Illumina HiSeq	Phase_I	72786003	NM_001174098	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.09	2.132180	0.37630	4.54E-4	0.0	ENSG00000198246	ENST00000373189	T	0.60424	0.19	4.64	3.73	0.42828	.	0.355450	0.26279	N	0.025293	T	0.57621	0.2066	M	0.74647	2.275	0.35669	D	0.813130	B	0.13145	0.007	B	0.19666	0.026	T	0.64791	-0.6324	9	0.37606	T	0.19	-21.7974	13.2406	0.59995	0.0:0.8409:0.1591:0.0	.	257	Q9BZD2	S29A3_HUMAN	V	257	ENSP00000362285:A257V	ENSP00000362285:A257V	A	+	2	0	SLC29A3	72786003	1.000000	0.71417	0.952000	0.39060	0.255000	0.26057	4.176000	0.58269	1.163000	0.42636	0.563000	0.77884	GCC		0.537	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344	
CDH23	64072	broad.mit.edu	37	10	73406256	73406256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:73406256C>T	ENST00000224721.6	+	13	1351	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	CDH23_ENST00000398842.3_Missense_Mutation_p.A444V|CDH23_ENST00000398809.4_Missense_Mutation_p.A444V|CDH23_ENST00000299366.7_Missense_Mutation_p.A489V|CDH23_ENST00000461841.3_Missense_Mutation_p.A489V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.A449V(1)|p.A444V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGGGCTATGCCAAGGTGAAG	0.557																																					p.A444V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1331T	10						.						158.0	165.0	162.0					10																	73406256		2080	4215	6295	73076262	SO:0001583	missense	64072	exon13			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1346C>T	10.37:g.73406256C>T	ENSP00000224721:p.Ala449Val	Somatic		Capture	Illumina HiSeq	Phase_I	73076262	NM_001171930	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	31	5.062711	0.93898	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.60797	0.59;0.16	5.69	4.8	0.61643	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.52759	1.655	0.80722	D	1	D;P;P;P	0.71674	0.998;0.525;0.931;0.577	D;B;P;B	0.76071	0.987;0.116;0.482;0.134	T	0.63350	-0.6657	10	0.05436	T	0.98	.	14.641	0.68726	0.0:0.9303:0.0:0.0697	.	444;447;444;444	Q6P152;G3XCN8;Q9H251;Q9H251-5	.;.;CAD23_HUMAN;.	V	449;444;444;444;444;447;447;359	ENSP00000381789:A444V;ENSP00000381822:A444V	ENSP00000224721:A449V	A	+	2	0	CDH23	73076262	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.786000	0.85741	1.415000	0.47037	-0.142000	0.14014	GCC		0.557	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73567384	73567384	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:73567384G>T	ENST00000224721.6	+	58	8440	c.8435G>T	c.(8434-8436)aGc>aTc	p.S2812I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S567I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2807	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S2812I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AAGGCCTCCAGCAATCGCAGC	0.612																																					p.S567I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1700T	10						.						38.0	42.0	41.0					10																	73567384		2124	4232	6356	73237390	SO:0001583	missense	64072	exon12			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8435G>T	10.37:g.73567384G>T	ENSP00000224721:p.Ser2812Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73237390	NM_001171933	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	29.8	5.037216	0.93630	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61510	0.1	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.76645	-0.2883	10	0.72032	D	0.01	.	19.5953	0.95535	0.0:0.0:1.0:0.0	.	2807;2807	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2812;2807;2810;567	ENSP00000381768:S567I	ENSP00000224721:S2812I	S	+	2	0	CDH23	73237390	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.827000	0.99397	2.643000	0.89663	0.544000	0.68410	AGC		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
OIT3	170392	broad.mit.edu	37	10	74658671	74658671	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:74658671C>A	ENST00000334011.5	+	2	529	c.311C>A	c.(310-312)gCt>gAt	p.A104D		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	104						nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A104D(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAACGCCAGGCTTGTGCCAGC	0.572																																					p.A104D	Colon(7;19 345 13446 17537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311A	10						.						96.0	67.0	77.0					10																	74658671		2203	4300	6503	74328677	SO:0001583	missense	170392	exon2				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.311C>A	10.37:g.74658671C>A	ENSP00000333900:p.Ala104Asp	Somatic		Capture	Illumina HiSeq	Phase_I	74328677	NM_152635	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285445	0.80803	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.95690	-3.78	5.63	4.73	0.59995	.	0.000000	0.56097	D	0.000022	D	0.96473	0.8849	M	0.65498	2.005	0.58432	D	0.999999	D	0.63046	0.992	P	0.58721	0.844	D	0.96004	0.8996	10	0.46703	T	0.11	-25.2343	14.7487	0.69508	0.0:0.9308:0.0:0.0692	.	104	Q8WWZ8	OIT3_HUMAN	D	104	ENSP00000333900:A104D	ENSP00000333900:A104D	A	+	2	0	OIT3	74328677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.921000	0.56454	1.381000	0.46364	0.655000	0.94253	GCT		0.572	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
OIT3	170392	broad.mit.edu	37	10	74684190	74684190	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:74684190G>T	ENST00000334011.5	+	7	1373	c.1155G>T	c.(1153-1155)ggG>ggT	p.G385G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	385	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G385G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAAATCATGGGATCTTCCCAT	0.512																																					p.G385G	Colon(7;19 345 13446 17537)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155T	10						.						97.0	96.0	97.0					10																	74684190		2203	4300	6503	74354196	SO:0001819	synonymous_variant	170392	exon7				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1155G>T	10.37:g.74684190G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74354196	NM_152635	A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	CCDS7318.1																																																																																				0.512	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
NUDT13	25961	broad.mit.edu	37	10	74886455	74886455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:74886455G>A	ENST00000357321.4	+	8	846	c.728G>A	c.(727-729)cGc>cAc	p.R243H	RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_Missense_Mutation_p.A206T|SNORA11_ENST00000408237.1_RNA|NUDT13_ENST00000349051.5_Intron|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_Missense_Mutation_p.R117H|NUDT13_ENST00000537969.1_Missense_Mutation_p.R46H	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13									p.R243H(1)		large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					GAGACCATCCGCCGAGAAGTT	0.512																																					p.R243H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	10						.						205.0	164.0	178.0					10																	74886455		2203	4300	6503	74556461	SO:0001583	missense	25961	exon8			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.728G>A	10.37:g.74886455G>A	ENSP00000349874:p.Arg243His	Somatic		Capture	Illumina HiSeq	Phase_I	74556461	NM_015901		Missense_Mutation	SNP	ENST00000357321.4	37	CCDS31220.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.40|15.40	2.823418|2.823418	0.50739|0.50739	.|.	.|.	ENSG00000166321|ENSG00000166321	ENST00000372997|ENST00000357321;ENST00000544879;ENST00000537969	T|T;T;T	0.30448|0.08807	1.53|3.05;3.05;3.05	6.08|6.08	3.27|3.27	0.37495|0.37495	.|NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	.|0.385185	.|0.32287	.|N	.|0.006303	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.37630|0.37630	1.12|1.12	0.23260|0.23260	N|N	0.998028|0.998028	B|B	0.17268|0.23650	0.021|0.089	B|B	0.06405|0.27170	0.002|0.077	T|T	0.25257|0.25257	-1.0137|-1.0137	9|10	0.46703|0.40728	T|T	0.11|0.16	.|.	11.2408|11.2408	0.48968|0.48968	0.1909:0.0:0.8091:0.0|0.1909:0.0:0.8091:0.0	.|.	206|243	Q5SQM6|Q86X67	.|NUD13_HUMAN	T|H	206|243;117;46	ENSP00000362088:A206T|ENSP00000349874:R243H;ENSP00000440760:R117H;ENSP00000438223:R46H	ENSP00000362088:A206T|ENSP00000349874:R243H	A|R	+|+	1|2	0|0	NUDT13|NUDT13	74556461|74556461	0.003000|0.003000	0.15002|0.15002	0.030000|0.030000	0.17652|0.17652	0.448000|0.448000	0.32197|0.32197	1.351000|1.351000	0.34022|0.34022	0.463000|0.463000	0.27118|0.27118	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.512	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901	
ECD	11319	broad.mit.edu	37	10	74896584	74896584	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:74896584C>T	ENST00000372979.4	-	13	1788	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ECD_ENST00000454759.2_Missense_Mutation_p.E485K|ECD_ENST00000430082.2_Missense_Mutation_p.E561K	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	528					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E528K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCGCCAGGTTCGTGTGTTTCA	0.453																																					p.E485K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1453A	10						.						281.0	255.0	264.0					10																	74896584		2203	4300	6503	74566590	SO:0001583	missense	11319	exon12			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1582G>A	10.37:g.74896584C>T	ENSP00000362070:p.Glu528Lys	Somatic		Capture	Illumina HiSeq	Phase_I	74566590	NM_001135753	C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	C	0.825	-0.747386	0.03065	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.18657	2.2;2.2;2.2	5.55	3.63	0.41609	.	1.236830	0.05492	N	0.556790	T	0.20373	0.0490	L	0.51422	1.61	0.22531	N	0.999013	B;B;B	0.19817	0.039;0.0;0.002	B;B;B	0.14023	0.01;0.001;0.003	T	0.38222	-0.9671	10	0.09843	T	0.71	-7.222	9.3996	0.38424	0.0:0.7753:0.1442:0.0805	.	485;561;528	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	K	528;561;485	ENSP00000362070:E528K;ENSP00000401566:E561K;ENSP00000395786:E485K	ENSP00000362070:E528K	E	-	1	0	ECD	74566590	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	0.484000	0.22308	1.339000	0.45563	-0.136000	0.14681	GAA		0.453	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	
ANXA7	310	broad.mit.edu	37	10	75139953	75139953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75139953G>A	ENST00000372921.5	-	10	981	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Missense_Mutation_p.R179C	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	331					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.R331C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TTCTCATCACGATTTCCCTGC	0.393																																					p.R309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	10						.						153.0	150.0	151.0					10																	75139953		2203	4300	6503	74809959	SO:0001583	missense	310	exon10			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.925C>T	10.37:g.75139953G>A	ENSP00000362012:p.Arg309Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74809959	NM_001156	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396015	0.83011	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.17691	2.26;2.26;2.26	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999	T	0.67067	-0.5764	10	0.87932	D	0	.	13.8523	0.63504	0.0751:0.0:0.9249:0.0	.	309;309;236;309;331	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	C	309;331;179	ENSP00000362012:R309C;ENSP00000362010:R331C;ENSP00000442864:R179C	ENSP00000362010:R331C	R	-	1	0	ANXA7	74809959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.450000	0.44943	2.941000	0.99782	0.655000	0.94253	CGT		0.393	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	
MSS51	118490	broad.mit.edu	37	10	75184341	75184341	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75184341T>G	ENST00000372912.1	-	6	1355	c.1353A>C	c.(1351-1353)caA>caC	p.Q451H	MSS51_ENST00000299432.2_Missense_Mutation_p.Q451H			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	451					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.Q451H(1)									TCTCTTCTAATTGCCTATTAT	0.433																																					p.Q451H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1353C	10						.						166.0	160.0	162.0					10																	75184341		2203	4300	6503	74854347	SO:0001583	missense	118490	exon7			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1353A>C	10.37:g.75184341T>G	ENSP00000362003:p.Gln451His	Somatic		Capture	Illumina HiSeq	Phase_I	74854347	NM_001024593	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041196	0.35989	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.48201	0.82;0.82	5.62	-1.45	0.08828	.	0.636347	0.14570	N	0.311518	T	0.33118	0.0852	L	0.36672	1.1	0.09310	N	1	P;B	0.44946	0.846;0.41	P;B	0.44946	0.465;0.204	T	0.22243	-1.0222	10	0.62326	D	0.03	0.0106	1.0582	0.01595	0.1451:0.2572:0.1498:0.448	.	230;451	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	H	451	ENSP00000299432:Q451H;ENSP00000362003:Q451H	ENSP00000299432:Q451H	Q	-	3	2	ZMYND17	74854347	0.008000	0.16893	0.003000	0.11579	0.021000	0.10359	0.214000	0.17541	0.111000	0.17947	-0.379000	0.06801	CAA		0.433	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451	
MSS51	118490	broad.mit.edu	37	10	75187880	75187880	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75187880G>T	ENST00000372912.1	-	1	165	c.163C>A	c.(163-165)Cct>Act	p.P55T	MSS51_ENST00000299432.2_Missense_Mutation_p.P55T|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	55					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.P55T(1)									GATAGGCCAGGAACATTATCA	0.473																																					p.P55T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163A	10						.						125.0	125.0	125.0					10																	75187880		2203	4300	6503	74857886	SO:0001583	missense	118490	exon2			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.163C>A	10.37:g.75187880G>T	ENSP00000362003:p.Pro55Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74857886	NM_001024593	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739757	0.89573	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.68479	-0.33;-0.33	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	L	0.59436	1.845	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80759	-0.1239	10	0.87932	D	0	-13.4356	17.5292	0.87809	0.0:0.0:1.0:0.0	.	55;55	Q4VC12;F6VAV3	ZMY17_HUMAN;.	T	55	ENSP00000299432:P55T;ENSP00000362003:P55T	ENSP00000299432:P55T	P	-	1	0	ZMYND17	74857886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.560000	0.90712	2.805000	0.96524	0.655000	0.94253	CCT		0.473	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451	
USP54	159195	broad.mit.edu	37	10	75296120	75296120	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75296120C>A	ENST00000339859.4	-	10	1151	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	USP54_ENST00000428547.1_Missense_Mutation_p.D201Y|USP54_ENST00000408019.1_Missense_Mutation_p.D351Y|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.D351Y|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	351	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.D351Y(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCCTGGGGATCTGCATAAAGC	0.527																																					p.D351Y	Colon(195;880 2046 8854 25025 38456)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051T	10						.						108.0	114.0	112.0					10																	75296120		1953	4150	6103	74966126	SO:0001583	missense	159195	exon9			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1051G>T	10.37:g.75296120C>A	ENSP00000345216:p.Asp351Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74966126	NM_152586	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575497	0.86645	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.064258	0.64402	U	0.000017	T	0.22360	0.0539	L	0.52573	1.65	0.48975	D	0.999739	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.972;0.98;0.988;0.996	T	0.00069	-1.2137	10	0.52906	T	0.07	-8.8594	19.621	0.95656	0.0:1.0:0.0:0.0	.	351;351;351;351	B7Z7X1;Q70EL1-4;Q70EL1-6;Q70EL1	.;.;.;UBP54_HUMAN	Y	351;351;201;351	ENSP00000345216:D351Y;ENSP00000386080:D351Y;ENSP00000408714:D201Y;ENSP00000326547:D351Y	ENSP00000326547:D351Y	D	-	1	0	USP54	74966126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.948000	0.56660	2.627000	0.88993	0.655000	0.94253	GAT		0.527	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
SYNPO2L	79933	broad.mit.edu	37	10	75406882	75406882	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75406882C>T	ENST00000394810.2	-	4	2677	c.2528G>A	c.(2527-2529)gGc>gAc	p.G843D	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.G619D	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	843	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.G619D(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AGCCTTGATGCCCTGCTTGGG	0.557																																					p.G619D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	10						.						54.0	64.0	61.0					10																	75406882		2197	4290	6487	75076888	SO:0001583	missense	79933	exon2			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2528G>A	10.37:g.75406882C>T	ENSP00000378289:p.Gly843Asp	Somatic		Capture	Illumina HiSeq	Phase_I	75076888	NM_024875	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715815	0.68844	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.29917	1.55;1.86	5.08	5.08	0.68730	.	0.119507	0.56097	D	0.000029	T	0.56217	0.1970	M	0.71036	2.16	0.46499	D	0.999079	D;D	0.89917	1.0;1.0	D;D	0.72075	0.963;0.976	T	0.56829	-0.7914	10	0.52906	T	0.07	-13.1326	18.6543	0.91445	0.0:1.0:0.0:0.0	.	843;619	Q9H987;Q9H987-2	SYP2L_HUMAN;.	D	619;843	ENSP00000361964:G619D;ENSP00000378289:G843D	ENSP00000361964:G619D	G	-	2	0	SYNPO2L	75076888	0.981000	0.34729	1.000000	0.80357	0.970000	0.65996	2.803000	0.47924	2.633000	0.89246	0.561000	0.74099	GGC		0.557	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
SYNPO2L	79933	broad.mit.edu	37	10	75407656	75407656	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75407656G>T	ENST00000394810.2	-	4	1903	c.1754C>A	c.(1753-1755)tCt>tAt	p.S585Y	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S361Y	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	585	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.S361Y(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CAAAGGCGCAGATAGGAAGAT	0.692																																					p.S361Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1082A	10						.						13.0	16.0	15.0					10																	75407656		2184	4282	6466	75077662	SO:0001583	missense	79933	exon2			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1754C>A	10.37:g.75407656G>T	ENSP00000378289:p.Ser585Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	75077662	NM_024875	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783520	0.49891	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.24723	1.84;2.15	5.02	5.02	0.67125	.	0.143846	0.49305	D	0.000152	T	0.44519	0.1297	L	0.48642	1.525	0.32465	N	0.543626	D;D	0.76494	0.998;0.999	D;D	0.69479	0.921;0.964	T	0.46707	-0.9172	10	0.39692	T	0.17	-11.9316	18.541	0.91027	0.0:0.0:1.0:0.0	.	585;361	Q9H987;Q9H987-2	SYP2L_HUMAN;.	Y	361;585	ENSP00000361964:S361Y;ENSP00000378289:S585Y	ENSP00000361964:S361Y	S	-	2	0	SYNPO2L	75077662	1.000000	0.71417	0.081000	0.20488	0.218000	0.24690	5.758000	0.68776	2.610000	0.88304	0.549000	0.68633	TCT		0.692	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
AP3M1	26985	broad.mit.edu	37	10	75886057	75886057	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75886057G>T	ENST00000355264.4	-	7	1171	c.860C>A	c.(859-861)tCt>tAt	p.S287Y	AP3M1_ENST00000372745.1_Missense_Mutation_p.S287Y	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	287	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)	p.S287Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TCTGCCGCAAGAACTGTTCTC	0.368																																					p.S287Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860A	10						.						157.0	131.0	140.0					10																	75886057		2203	4300	6503	75556063	SO:0001583	missense	26985	exon7			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.860C>A	10.37:g.75886057G>T	ENSP00000347408:p.Ser287Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	75556063	NM_012095	Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192810	0.78902	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.22945	1.93;1.93	5.63	4.69	0.59074	Clathrin adaptor, mu subunit, C-terminal (3);	0.115474	0.64402	D	0.000009	T	0.46889	0.1416	M	0.74881	2.28	0.44798	D	0.997802	B;P	0.45531	0.048;0.86	B;P	0.56398	0.063;0.797	T	0.47923	-0.9079	10	0.87932	D	0	-16.0817	15.0656	0.71992	0.0:0.2646:0.7354:0.0	.	233;287	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	Y	287	ENSP00000347408:S287Y;ENSP00000361831:S287Y	ENSP00000347408:S287Y	S	-	2	0	AP3M1	75556063	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.513000	0.81739	2.652000	0.90054	0.655000	0.94253	TCT		0.368	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1		
DUSP13	51207	broad.mit.edu	37	10	76854560	76854560	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:76854560C>A	ENST00000472493.2	-	4	549	c.471G>T	c.(469-471)gaG>gaT	p.E157D	DUSP13_ENST00000491677.2_Missense_Mutation_p.E286D|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000605915.1_Missense_Mutation_p.E179D|DUSP13_ENST00000478873.2_Missense_Mutation_p.E293D|DUSP13_ENST00000464872.1_Missense_Mutation_p.E106D|DUSP13_ENST00000372700.3_Missense_Mutation_p.E207D|DUSP13_ENST00000607131.1_Missense_Mutation_p.E250D	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	157	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E286D(1)|p.E157D(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCGTCATGTTCTCACAGATCA	0.587																																					p.E250D	NSCLC(174;1655 2059 12324 40663 42963)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G750T	10						.						112.0	79.0	90.0					10																	76854560		2203	4300	6503	76524566	SO:0001583	missense	51207	exon6			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.471G>T	10.37:g.76854560C>A	ENSP00000444580:p.Glu157Asp	Somatic		Capture	Illumina HiSeq	Phase_I	76524566	NM_001007273	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109915	0.77210	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.37	4.26	0.50523	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.62266	1.93	0.35910	D	0.83104	P;D;P	0.63880	0.882;0.993;0.903	P;P;P	0.62184	0.506;0.899;0.691	T	0.77027	-0.2740	10	0.66056	D	0.02	-17.8176	12.2757	0.54733	0.0:0.8452:0.0:0.1548	.	207;286;157	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	D	157;157;286;250;106;207	ENSP00000311051:E157D;ENSP00000444580:E157D;ENSP00000436312:E286D;ENSP00000434041:E106D;ENSP00000361785:E207D	ENSP00000311051:E157D	E	-	3	2	DUSP13	76524566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.608000	0.36847	2.509000	0.84616	0.655000	0.94253	GAG		0.587	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3		
KCNMA1	3778	broad.mit.edu	37	10	78647029	78647029	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:78647029G>A	ENST00000286628.8	-	28	3705	c.3706C>T	c.(3706-3708)Ctt>Ttt	p.L1236F	KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000406533.3_Missense_Mutation_p.L1240F|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L1239F|KCNMA1_ENST00000286627.5_Missense_Mutation_p.L1178F|KCNMA1_ENST00000372440.1_Intron|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L1219F|KCNMA1_ENST00000372443.1_Intron|RP11-443A13.5_ENST00000429850.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1236				YVQEERL -> KEMVYR (in Ref. 3; CAI39730/ CAI40870/CAI14074/CAI16162). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L1178F(1)|p.L1240F(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACATATCAAAGCCGCTCTTCC	0.517																																					p.L1219F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3655T	10						.						211.0	211.0	211.0					10																	78647029		2203	4300	6503	78317035	SO:0001583	missense	3778	exon28			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3706C>T	10.37:g.78647029G>A	ENSP00000286628:p.Leu1236Phe	Somatic		Capture	Illumina HiSeq	Phase_I	78317035	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876321|2.876321	0.51801|0.51801	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000434208|ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D	.|0.85013	.|-1.91;-1.92;-1.93;-1.93	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|.	.|.	.|.	.|.	T|T	0.77157|0.77157	0.4089|0.4089	N|N	0.08118|0.08118	0|0	0.53688|0.53688	D|D	0.999978|0.999978	.|B;B;B;P;B	.|0.41131	.|0.258;0.246;0.078;0.739;0.145	.|B;B;B;B;B	.|0.43082	.|0.101;0.255;0.09;0.407;0.063	T|T	0.81920|0.81920	-0.0712|-0.0712	5|9	.|0.66056	.|D	.|0.02	.|.	17.3426|17.3426	0.87301|0.87301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1208;1219;1236;1178;989	.|B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9	.|.;.;KCMA1_HUMAN;.;.	V|F	885|1178;1210;1240;1239;1219;989	.|ENSP00000286627:L1178F;ENSP00000385552:L1240F;ENSP00000346321:L1239F;ENSP00000385806:L1219F	.|ENSP00000286627:L1178F	A|L	-|-	2|1	0|0	KCNMA1|KCNMA1	78317035|78317035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.545000|3.545000	0.53648|0.53648	2.532000|2.532000	0.85374|0.85374	0.460000|0.460000	0.39030|0.39030	GCT|CTT		0.517	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
KCNMA1	3778	broad.mit.edu	37	10	78713571	78713571	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:78713571C>A	ENST00000286628.8	-	21	2471	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	KCNMA1_ENST00000404771.3_Missense_Mutation_p.E824D|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E828D|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E827D|KCNMA1_ENST00000286627.5_Missense_Mutation_p.E766D|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E766D|KCNMA1_ENST00000404857.1_Missense_Mutation_p.E766D|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E766D	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	824					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.E766D(1)|p.E828D(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGATGACTTTCTCTATCTCCT	0.488																																					p.E770D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2310T	10						.						184.0	154.0	164.0					10																	78713571		2203	4300	6503	78383577	SO:0001583	missense	3778	exon21			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2472G>T	10.37:g.78713571C>A	ENSP00000286628:p.Glu824Asp	Somatic		Capture	Illumina HiSeq	Phase_I	78383577	NM_001014797	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	11.36|11.36|11.36	1.617191|1.617191|1.617191	0.28801|0.28801|0.28801	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.85861|.|.	-1.94;-1.99;-1.98;-1.99;-2.0;-1.94;-1.99;-1.99;-2.04|.|.	5.99|5.99|5.99	2.71|2.71|2.71	0.32032|0.32032|0.32032	.|.|.	0.046217|0.046217|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|.|T	0.48095|.|0.48095	0.1481|.|0.1481	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.41111|0.41111|0.41111	D|D|D	0.985741|0.985741|0.985741	B;B;B;B;B;B;B;B|.|.	0.14438|.|.	0.002;0.001;0.001;0.005;0.01;0.0;0.004;0.001|.|.	B;B;B;B;B;B;B;B|.|.	0.19148|.|.	0.007;0.005;0.018;0.02;0.015;0.003;0.024;0.007|.|.	T|.|T	0.44952|.|0.44952	-0.9294|.|-0.9294	10|.|5	0.30854|0.87932|.	T|D|.	0.27|0|.	-18.772|-18.772|-18.772	1.8803|1.8803|1.8803	0.03227|0.03227|0.03227	0.1395:0.4404:0.1361:0.284|0.1395:0.4404:0.1361:0.284|0.1395:0.4404:0.1361:0.284	.|.|.	795;769;766;824;766;577;827;766|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	D|X|I	766;703;759;798;761;766;766;798;828;827;766;577|755;474|717	ENSP00000361517:E766D;ENSP00000361485:E703D;ENSP00000361514:E759D;ENSP00000396608:E798D;ENSP00000361520:E766D;ENSP00000286627:E766D;ENSP00000385552:E828D;ENSP00000346321:E827D;ENSP00000385806:E766D|.|.	ENSP00000286627:E766D|ENSP00000361498:E755X|.	E|E|R	-|-|-	3|1|2	2|0|0	KCNMA1|KCNMA1|KCNMA1	78383577|78383577|78383577	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	0.433000|0.433000|0.433000	0.21477|0.21477|0.21477	0.866000|0.866000|0.866000	0.35629|0.35629|0.35629	0.639000|0.639000|0.639000	0.83563|0.83563|0.83563	GAG|GAA|AGA		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
POLR3A	11128	broad.mit.edu	37	10	79753101	79753101	+	Missense_Mutation	SNP	C	C	A	rs57636571		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:79753101C>A	ENST00000372371.3	-	20	2778	c.2641G>T	c.(2641-2643)Gat>Tat	p.D881Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	881					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.D881Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAGCAAAGATCTTCAAGAGAT	0.453																																					p.D881Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2641T	10						.						82.0	77.0	79.0					10																	79753101		2203	4300	6503	79423107	SO:0001583	missense	11128	exon20			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2641G>T	10.37:g.79753101C>A	ENSP00000361446:p.Asp881Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	79423107	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062630	0.93898	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	D	0.83506	-1.73	5.87	5.87	0.94306	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95801	0.8833	9	.	.	.	-31.2668	20.5827	0.99408	0.0:1.0:0.0:0.0	.	881	O14802	RPC1_HUMAN	Y	881	ENSP00000361446:D881Y	.	D	-	1	0	POLR3A	79423107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAT		0.453	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
POLR3A	11128	broad.mit.edu	37	10	79764537	79764537	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:79764537G>A	ENST00000372371.3	-	16	2321	c.2184C>T	c.(2182-2184)atC>atT	p.I728I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	728					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.I728I(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCAGGGCTTCGATGTACTCAT	0.572																																					p.I728I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2184T	10						.						95.0	77.0	83.0					10																	79764537		2203	4300	6503	79434543	SO:0001819	synonymous_variant	11128	exon16			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2184C>T	10.37:g.79764537G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79434543	NM_007055	Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	CCDS7354.1																																																																																				0.572	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
SFTPD	6441	broad.mit.edu	37	10	81697860	81697860	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:81697860G>A	ENST00000372292.3	-	8	916	c.876C>T	c.(874-876)cgC>cgT	p.R292R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	292	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.R292R(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CAGCGGCAGAGCGTGGAGAGG	0.542																																					p.R292R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	10						.						103.0	102.0	102.0					10																	81697860		2203	4300	6503	81687840	SO:0001819	synonymous_variant	6441	exon8			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.876C>T	10.37:g.81697860G>A		Somatic		Capture	Illumina HiSeq	Phase_I	81687840	NM_003019	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	CCDS7362.1																																																																																				0.542	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		
ANXA11	311	broad.mit.edu	37	10	81923884	81923884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:81923884C>A	ENST00000438331.1	-	10	1356	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	ANXA11_ENST00000372231.3_Nonsense_Mutation_p.E292*|ANXA11_ENST00000265447.4_Nonsense_Mutation_p.E292*|ANXA11_ENST00000537102.1_Nonsense_Mutation_p.E259*|ANXA11_ENST00000422982.3_Nonsense_Mutation_p.E292*|ANXA11_ENST00000360615.4_Nonsense_Mutation_p.E292*|ANXA11_ENST00000535999.1_Nonsense_Mutation_p.E292*	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	292					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.E292*(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			AGGCAGGCTTCATCAGTGCCA	0.582																																					p.E292X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G874T	10						.						144.0	119.0	127.0					10																	81923884		2203	4300	6503	81913864	SO:0001587	stop_gained	311	exon10			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.874G>T	10.37:g.81923884C>A	ENSP00000398610:p.Glu292*	Somatic		Capture	Illumina HiSeq	Phase_I	81913864	NM_145869	B4DVE7	Nonsense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	44	10.794306	0.99469	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	.	.	.	5.45	5.45	0.79879	.	0.100484	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.157	0.86794	0.0:1.0:0.0:0.0	.	.	.	.	X	292;292;292;292;292;292;292;199;259	.	ENSP00000265447:E292X	E	-	1	0	ANXA11	81913864	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.687000	0.84139	2.737000	0.93849	0.549000	0.68633	GAA		0.582	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869	
MAT1A	4143	broad.mit.edu	37	10	82043684	82043684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:82043684C>A	ENST00000372213.3	-	3	540	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	94					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.D94Y(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGGCTGAGTCATCGTAGCCG	0.592																																					p.D94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280T	10						.						135.0	99.0	111.0					10																	82043684		2203	4300	6503	82033664	SO:0001583	missense	4143	exon3				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.280G>T	10.37:g.82043684C>A	ENSP00000361287:p.Asp94Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	82033664	NM_000429	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315520	0.60524	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.83755	-1.76	5.78	5.78	0.91487	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.087783	0.85682	D	0.000000	D	0.93575	0.7949	H	0.96048	3.76	0.58432	D	0.999999	D	0.57571	0.98	P	0.62298	0.9	D	0.94942	0.8092	10	0.66056	D	0.02	-39.5528	17.4952	0.87715	0.0:1.0:0.0:0.0	.	94	Q00266	METK1_HUMAN	Y	94	ENSP00000361287:D94Y	ENSP00000361280:D94Y	D	-	1	0	MAT1A	82033664	1.000000	0.71417	0.967000	0.41034	0.707000	0.40811	2.945000	0.49043	2.744000	0.94065	0.591000	0.81541	GAC		0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
NRG3	10718	broad.mit.edu	37	10	84118522	84118522	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:84118522C>A	ENST00000404547.1	+	2	851	c.851C>A	c.(850-852)tCc>tAc	p.S284Y	NRG3_ENST00000372142.2_Missense_Mutation_p.S63Y|NRG3_ENST00000556918.1_Missense_Mutation_p.S114Y|NRG3_ENST00000372141.2_Missense_Mutation_p.S284Y|NRG3_ENST00000404576.2_Missense_Mutation_p.S88Y			P56975	NRG3_HUMAN	neuregulin 3	284	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S284Y(1)|p.S63Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACAGAGCGATCCGAGCACTTC	0.512																																					p.S63Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C188A	10						.						185.0	141.0	156.0					10																	84118522		2203	4300	6503	84108502	SO:0001583	missense	10718	exon3			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.851C>A	10.37:g.84118522C>A	ENSP00000384796:p.Ser284Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	84108502	NM_001165973	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780578	0.31502	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.72	5.72	0.89469	.	0.000000	0.52532	D	0.000068	T	0.63651	0.2529	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.64824	-0.6316	10	0.87932	D	0	-0.6315	17.3885	0.87423	0.0:1.0:0.0:0.0	.	284;63;284	B9EGV5;P56975-3;P56975-4	.;.;.	Y	284;284;284;63;88;114	ENSP00000361214:S284Y;ENSP00000384796:S284Y;ENSP00000361215:S63Y;ENSP00000385804:S88Y;ENSP00000451376:S114Y	ENSP00000361214:S284Y	S	+	2	0	NRG3	84108502	1.000000	0.71417	0.126000	0.21872	0.433000	0.31745	7.403000	0.79983	2.711000	0.92665	0.655000	0.94253	TCC		0.512	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
NRG3	10718	broad.mit.edu	37	10	84745005	84745005	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:84745005T>G	ENST00000404547.1	+	10	1807	c.1807T>G	c.(1807-1809)Tca>Gca	p.S603A	NRG3_ENST00000372142.2_Missense_Mutation_p.S382A|NRG3_ENST00000556918.1_Missense_Mutation_p.S409A|NRG3_ENST00000537893.1_Missense_Mutation_p.S229A|NRG3_ENST00000372141.2_Missense_Mutation_p.S579A|NRG3_ENST00000404576.2_Missense_Mutation_p.S383A|NRG3_ENST00000545131.1_Missense_Mutation_p.S229A			P56975	NRG3_HUMAN	neuregulin 3	603					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S382A(1)|p.S579A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CATCATCCCTTCAGTGGGTTT	0.463																																					p.S382A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1144G	10						.						115.0	122.0	120.0					10																	84745005		2203	4300	6503	84734985	SO:0001583	missense	10718	exon11			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1807T>G	10.37:g.84745005T>G	ENSP00000384796:p.Ser603Ala	Somatic		Capture	Illumina HiSeq	Phase_I	84734985	NM_001165973	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366770	0.61513	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.58060	0.97;0.59;0.65;0.36;0.94;0.45;0.45	5.95	5.95	0.96441	.	0.179248	0.39615	N	0.001303	T	0.68842	0.3045	L	0.58101	1.795	0.47276	D	0.999375	D;D;D;D	0.69078	0.99;0.997;0.996;0.99	D;D;D;D	0.77557	0.979;0.99;0.987;0.979	T	0.71570	-0.4553	10	0.87932	D	0	-27.6069	14.3843	0.66934	0.0:0.0:0.0:1.0	.	578;603;382;579	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	A	579;603;578;382;383;409;229;229	ENSP00000361214:S579A;ENSP00000384796:S603A;ENSP00000361215:S382A;ENSP00000385804:S383A;ENSP00000451376:S409A;ENSP00000441201:S229A;ENSP00000440377:S229A	ENSP00000361214:S579A	S	+	1	0	NRG3	84734985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.417000	0.66423	2.281000	0.76405	0.528000	0.53228	TCA		0.463	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
LRIT1	26103	broad.mit.edu	37	10	85991937	85991937	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:85991937C>A	ENST00000372105.3	-	4	1639	c.1618G>T	c.(1618-1620)Gcc>Tcc	p.A540S		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	540						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A540S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAGGCAGGGCAATGACGATG	0.517																																					p.A540S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1618T	10						.						114.0	90.0	98.0					10																	85991937		2203	4300	6503	85981917	SO:0001583	missense	26103	exon4			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1618G>T	10.37:g.85991937C>A	ENSP00000361177:p.Ala540Ser	Somatic		Capture	Illumina HiSeq	Phase_I	85981917	NM_015613	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334509	0.60853	.	.	ENSG00000148602	ENST00000372105	T	0.40476	1.03	5.62	5.62	0.85841	.	0.052815	0.85682	D	0.000000	T	0.58963	0.2159	M	0.67700	2.07	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	T	0.60677	-0.7216	10	0.62326	D	0.03	.	18.4391	0.90658	0.0:1.0:0.0:0.0	.	540	Q9P2V4	LRIT1_HUMAN	S	540	ENSP00000361177:A540S	ENSP00000361177:A540S	A	-	1	0	LRIT1	85981917	1.000000	0.71417	0.988000	0.46212	0.152000	0.21847	5.766000	0.68843	2.656000	0.90262	0.563000	0.77884	GCC		0.517	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
GRID1	2894	broad.mit.edu	37	10	87407113	87407113	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87407113C>T	ENST00000327946.7	-	13	2124	c.2039G>A	c.(2038-2040)gGc>gAc	p.G680D	RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.G251D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	680					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G680D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCGGACAGTGCCATAAGACAT	0.532										Multiple Myeloma(13;0.14)																											p.G680D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2039A	10						.						258.0	239.0	245.0					10																	87407113		2203	4300	6503	87397093	SO:0001583	missense	2894	exon13			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2039G>A	10.37:g.87407113C>T	ENSP00000330148:p.Gly680Asp	Somatic		Capture	Illumina HiSeq	Phase_I	87397093	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032911	0.93575	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.37235	1.21;1.21	5.92	5.92	0.95590	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82026	-0.0661	10	0.87932	D	0	.	19.3095	0.94179	0.0:1.0:0.0:0.0	.	680	Q9ULK0	GRID1_HUMAN	D	680;251	ENSP00000330148:G680D;ENSP00000444455:G251D	ENSP00000330148:G680D	G	-	2	0	GRID1	87397093	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.487000	0.81328	2.810000	0.96702	0.650000	0.86243	GGC		0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87482866	87482866	+	Missense_Mutation	SNP	G	G	A	rs138984541		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87482866G>A	ENST00000327946.7	-	12	1976	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRID1_ENST00000536331.1_Missense_Mutation_p.R202C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	631					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R631S(1)|p.R631C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATCACGATGCGCATGGCCATG	0.587										Multiple Myeloma(13;0.14)																											p.R631C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1891T	10						.						118.0	86.0	97.0					10																	87482866		2203	4300	6503	87472846	SO:0001583	missense	2894	exon12			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1891C>T	10.37:g.87482866G>A	ENSP00000330148:p.Arg631Cys	Somatic		Capture	Illumina HiSeq	Phase_I	87472846	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189622	0.78789	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.74632	-0.86;-0.86	5.95	5.04	0.67666	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.047867	0.85682	D	0.000000	D	0.90511	0.7027	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93530	0.6869	10	0.87932	D	0	.	15.6309	0.76908	0.0:0.0:0.8616:0.1384	.	631	Q9ULK0	GRID1_HUMAN	C	631;202	ENSP00000330148:R631C;ENSP00000444455:R202C	ENSP00000330148:R631C	R	-	1	0	GRID1	87472846	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.149000	0.42244	1.507000	0.48752	0.561000	0.74099	CGC		0.587	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87484280	87484280	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87484280A>C	ENST00000327946.7	-	11	1772	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	GRID1_ENST00000536331.1_Missense_Mutation_p.F134V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	563					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F563V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CACACAGCGAAATCAAATGGA	0.502										Multiple Myeloma(13;0.14)																											p.F563V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1687G	10						.						88.0	79.0	82.0					10																	87484280		2203	4300	6503	87474260	SO:0001583	missense	2894	exon11			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1687T>G	10.37:g.87484280A>C	ENSP00000330148:p.Phe563Val	Somatic		Capture	Illumina HiSeq	Phase_I	87474260	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	9.332	1.060732	0.19987	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.13538	2.8;2.58	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.049678	0.85682	D	0.000000	T	0.14270	0.0345	L	0.36672	1.1	0.49798	D	0.999828	B	0.25441	0.126	B	0.29077	0.098	T	0.05550	-1.0878	10	0.34782	T	0.22	.	15.3578	0.74440	1.0:0.0:0.0:0.0	.	563	Q9ULK0	GRID1_HUMAN	V	563;134	ENSP00000330148:F563V;ENSP00000444455:F134V	ENSP00000330148:F563V	F	-	1	0	GRID1	87474260	1.000000	0.71417	0.582000	0.28627	0.516000	0.34256	3.554000	0.53720	2.212000	0.71576	0.528000	0.53228	TTC		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87615899	87615899	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87615899A>T	ENST00000327946.7	-	7	1085	c.1000T>A	c.(1000-1002)Ttt>Att	p.F334I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	334					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F334I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTCCTGTGAAAGGCGTTGGCC	0.522										Multiple Myeloma(13;0.14)																											p.F334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1000A	10						.						110.0	94.0	100.0					10																	87615899		2203	4300	6503	87605879	SO:0001583	missense	2894	exon7			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1000T>A	10.37:g.87615899A>T	ENSP00000330148:p.Phe334Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87605879	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	32	5.147159	0.94603	.	.	ENSG00000182771	ENST00000327946	D	0.82803	-1.65	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.90431	0.4424	10	0.72032	D	0.01	.	14.662	0.68879	1.0:0.0:0.0:0.0	.	334	Q9ULK0	GRID1_HUMAN	I	334	ENSP00000330148:F334I	ENSP00000330148:F334I	F	-	1	0	GRID1	87605879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.332000	0.96446	2.065000	0.61736	0.528000	0.53228	TTT		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87675988	87675988	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87675988C>A	ENST00000327946.7	-	5	820	c.735G>T	c.(733-735)gaG>gaT	p.E245D		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	245					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E245D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCAGGTTGGTCTCCACGGCCT	0.507										Multiple Myeloma(13;0.14)																											p.E245D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G735T	10						.						76.0	73.0	74.0					10																	87675988		2203	4300	6503	87665968	SO:0001583	missense	2894	exon5			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.735G>T	10.37:g.87675988C>A	ENSP00000330148:p.Glu245Asp	Somatic		Capture	Illumina HiSeq	Phase_I	87665968	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240847	0.39598	.	.	ENSG00000182771	ENST00000327946	D	0.83335	-1.71	5.37	3.27	0.37495	Extracellular ligand-binding receptor (1);	0.423635	0.26528	N	0.023875	D	0.86234	0.5884	M	0.64997	1.995	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.83465	0.0056	10	0.36615	T	0.2	.	5.2981	0.15764	0.0:0.7148:0.0:0.2852	.	245	Q9ULK0	GRID1_HUMAN	D	245	ENSP00000330148:E245D	ENSP00000330148:E245D	E	-	3	2	GRID1	87665968	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.552000	0.36244	1.260000	0.44134	-0.258000	0.10820	GAG		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87898579	87898579	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:87898579G>A	ENST00000327946.7	-	4	808	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	241					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.N241N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GACCTACCTCGTTGATGAAGG	0.627										Multiple Myeloma(13;0.14)																											p.N241N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	10						.						83.0	77.0	79.0					10																	87898579		2203	4300	6503	87888559	SO:0001819	synonymous_variant	2894	exon4			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.723C>T	10.37:g.87898579G>A		Somatic		Capture	Illumina HiSeq	Phase_I	87888559	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
LDB3	11155	broad.mit.edu	37	10	88439236	88439236	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:88439236T>G	ENST00000361373.4	+	2	227	c.206T>G	c.(205-207)aTc>aGc	p.I69S	LDB3_ENST00000542786.1_Missense_Mutation_p.I69S|LDB3_ENST00000352360.5_Missense_Mutation_p.I69S|LDB3_ENST00000458213.2_Missense_Mutation_p.I69S|LDB3_ENST00000429277.2_Missense_Mutation_p.I69S|LDB3_ENST00000263066.6_Missense_Mutation_p.I69S|LDB3_ENST00000310944.6_Missense_Mutation_p.I69S|LDB3_ENST00000372056.4_Missense_Mutation_p.I69S|LDB3_ENST00000372066.3_Missense_Mutation_p.I69S	NM_007078.2	NP_009009.1			LIM domain binding 3									p.I69S(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAGAACAAGATCAAGTCTGCC	0.622																																					p.I69S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T206G	10						.						111.0	92.0	98.0					10																	88439236		2203	4300	6503	88429216	SO:0001583	missense	11155	exon2			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.206T>G	10.37:g.88439236T>G	ENSP00000355296:p.Ile69Ser	Somatic		Capture	Illumina HiSeq	Phase_I	88429216	NM_001080115		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669936	0.88348	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.33127	N	0.005251	T	0.75576	0.3868	H	0.98370	4.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.998;0.996;1.0;0.999	D	0.85863	0.1411	10	0.87932	D	0	.	15.8765	0.79166	0.0:0.0:0.0:1.0	.	69;69;69;69;69;69;69	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	S	69	ENSP00000401437:I69S;ENSP00000409148:I69S;ENSP00000263067:I69S;ENSP00000361136:I69S;ENSP00000263066:I69S;ENSP00000361126:I69S;ENSP00000311913:I69S;ENSP00000355296:I69S;ENSP00000438866:I69S	ENSP00000263066:I69S	I	+	2	0	LDB3	88429216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.154000	0.67381	0.459000	0.35465	ATC		0.622	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
MMRN2	79812	broad.mit.edu	37	10	88703271	88703271	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:88703271C>T	ENST00000372027.5	-	6	1591	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	424					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D424N(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTAATCTGATCGAAAGTCTCG	0.582																																					p.D424N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	10						.						136.0	102.0	113.0					10																	88703271		2203	4300	6503	88693251	SO:0001583	missense	79812	exon6			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1270G>A	10.37:g.88703271C>T	ENSP00000361097:p.Asp424Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88693251	NM_024756	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061129	0.55432	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.69926	-0.44	4.96	3.09	0.35607	.	0.913479	0.09232	N	0.830431	T	0.61800	0.2376	M	0.65975	2.015	0.09310	N	1	D;P;P	0.63046	0.992;0.913;0.913	B;B;B	0.39904	0.313;0.286;0.158	T	0.51132	-0.8744	10	0.46703	T	0.11	-4.3049	8.0771	0.30722	0.0:0.5293:0.3826:0.0881	.	202;363;424	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	N	424;202	ENSP00000361097:D424N	ENSP00000361097:D424N	D	-	1	0	MMRN2	88693251	0.537000	0.26386	0.009000	0.14445	0.776000	0.43924	1.347000	0.33975	0.491000	0.27793	0.462000	0.41574	GAT		0.582	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
PAPSS2	9060	broad.mit.edu	37	10	89487079	89487079	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:89487079G>A	ENST00000361175.4	+	8	1273	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.V307I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V306I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	302					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.V302I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTACTGCCCGTCTCTGCAGA	0.502																																					p.V302I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	10						.						143.0	112.0	123.0					10																	89487079		2203	4300	6503	89477059	SO:0001583	missense	9060	exon8			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.904G>A	10.37:g.89487079G>A	ENSP00000354436:p.Val302Ile	Somatic		Capture	Illumina HiSeq	Phase_I	89477059	NM_004670	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376684	0.01214	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.26518	1.73;1.73;1.73	5.74	-0.726	0.11170	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.221758	0.45867	N	0.000337	T	0.11750	0.0286	N	0.25789	0.76	0.09310	N	0.99999	B;B	0.12013	0.002;0.005	B;B	0.16722	0.016;0.007	T	0.35450	-0.9788	10	0.06494	T	0.89	-15.299	6.4886	0.22103	0.3399:0.22:0.4401:0.0	.	302;307	O95340;O95340-2	PAPS2_HUMAN;.	I	302;307;306;306	ENSP00000354436:V302I;ENSP00000406157:V307I;ENSP00000397123:V306I	ENSP00000354436:V302I	V	+	1	0	PAPSS2	89477059	0.032000	0.19561	0.192000	0.23308	0.208000	0.24298	0.194000	0.17135	0.094000	0.17404	-1.106000	0.02097	GTC		0.502	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		
PTEN	5728	broad.mit.edu	37	10	89624267	89624267	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:89624267G>T	ENST00000371953.3	+	1	1398	c.41G>T	c.(40-42)aGg>aTg	p.R14M	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	14	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R14fs*29(1)|p.R14M(1)|p.I8_R14>LRLICIF(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAAACAAAAGGAGATATCAA	0.483		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R14M		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,vulva,NS,Substitution - Missense,+1 	.	55	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Substitution - Missense(1)|Complex - compound substitution(1)	prostate(14)|central_nervous_system(11)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|urinary_tract(1)|kidney(1)	c.G41T	10						.						182.0	174.0	177.0					10																	89624267		2203	4300	6503	89614247	SO:0001583	missense	5728	exon1	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.41G>T	10.37:g.89624267G>T	ENSP00000361021:p.Arg14Met	Somatic		Capture	Illumina HiSeq	Phase_I	89614247	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789192	0.90367	.	.	ENSG00000171862	ENST00000371953	D	0.95035	-3.59	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.049551	0.85682	D	0.000000	D	0.96583	0.8885	M	0.89601	3.045	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	D	0.97136	0.9821	9	.	.	.	-0.1019	17.1609	0.86803	0.0:0.0:1.0:0.0	.	14	P60484	PTEN_HUMAN	M	14	ENSP00000361021:R14M	.	R	+	2	0	PTEN	89614247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.335000	0.79485	0.561000	0.74099	AGG		0.483	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R130Q		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,central_nervous_system,brain,Substitution - Nonsense,+1 	.	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	c.G389A	10	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	.						139.0	129.0	133.0					10																	89692905		2203	4300	6503	89682885	SO:0001583	missense	5728	exon5	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89682885	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
LIPJ	142910	broad.mit.edu	37	10	90353890	90353890	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:90353890C>A	ENST00000371939.3	+	5	632	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	106					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.F106L(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CCAAAGAATTCTGGGCTTTCA	0.333																																					p.F106L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C318A	10						.						57.0	57.0	57.0					10																	90353890		2202	4300	6502	90343870	SO:0001583	missense	142910	exon5			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.318C>A	10.37:g.90353890C>A	ENSP00000361007:p.Phe106Leu	Somatic		Capture	Illumina HiSeq	Phase_I	90343870	NM_001010939	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009996	0.75046	.	.	ENSG00000204022	ENST00000371939	T	0.70045	-0.45	4.11	2.24	0.28232	Alpha/beta hydrolase fold-1 (1);	0.149931	0.31381	N	0.007743	T	0.80513	0.4637	M	0.91818	3.245	0.38279	D	0.942374	D	0.69078	0.997	P	0.62885	0.908	T	0.82754	-0.0301	10	0.87932	D	0	-29.464	7.286	0.26340	0.0:0.7179:0.0:0.2821	.	106	Q5W064	LIPJ_HUMAN	L	106	ENSP00000361007:F106L	ENSP00000361007:F106L	F	+	3	2	LIPJ	90343870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.942000	0.40243	1.074000	0.40909	0.543000	0.68304	TTC		0.333	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377	
LIPF	8513	broad.mit.edu	37	10	90431625	90431625	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:90431625G>T	ENST00000238983.4	+	6	618	c.572G>T	c.(571-573)aGa>aTa	p.R191I	LIPF_ENST00000608620.1_Missense_Mutation_p.R158I|LIPF_ENST00000355843.2_Missense_Mutation_p.R168I|LIPF_ENST00000394375.3_Missense_Mutation_p.R201I	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	191					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.R191I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTGGCTAAAAGAATCAAAACC	0.388																																					p.R191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572T	10						.						242.0	246.0	245.0					10																	90431625		2203	4300	6503	90421605	SO:0001583	missense	8513	exon6			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.572G>T	10.37:g.90431625G>T	ENSP00000238983:p.Arg191Ile	Somatic		Capture	Illumina HiSeq	Phase_I	90421605	NM_004190	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932269	0.34096	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.66995	-0.24;-0.24;-0.24	4.97	-4.65	0.03339	Alpha/beta hydrolase fold-1 (1);	1.043950	0.07524	N	0.911034	T	0.81894	0.4919	M	0.89287	3.02	0.18873	N	0.999981	D;D;D;D	0.58970	0.96;0.98;0.96;0.984	D;P;P;P	0.64877	0.93;0.807;0.877;0.879	T	0.78283	-0.2264	10	0.87932	D	0	-5.8477	14.3307	0.66553	0.8595:0.0:0.1405:0.0	.	158;201;168;191	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	I	201;191;158	ENSP00000377900:R201I;ENSP00000238983:R191I;ENSP00000348101:R158I	ENSP00000238983:R191I	R	+	2	0	LIPF	90421605	0.000000	0.05858	0.003000	0.11579	0.116000	0.19942	-0.897000	0.04110	-0.773000	0.04596	0.585000	0.79938	AGA		0.388	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
LIPN	643418	broad.mit.edu	37	10	90524298	90524298	+	Missense_Mutation	SNP	C	C	T	rs200069492		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:90524298C>T	ENST00000404459.1	+	3	358	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	120					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R120W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GGGAAACAGTCGGGGAAACAC	0.428																																					p.R120W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358T	10						.						84.0	84.0	84.0					10																	90524298		1881	4118	5999	90514278	SO:0001583	missense	643418	exon3				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.358C>T	10.37:g.90524298C>T	ENSP00000383923:p.Arg120Trp	Somatic		Capture	Illumina HiSeq	Phase_I	90514278	NM_001102469	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584154	0.65992	.	.	ENSG00000204020	ENST00000404459	T	0.71817	-0.6	4.52	3.6	0.41247	Alpha/beta hydrolase fold-1 (1);	0.114246	0.39759	N	0.001262	D	0.87993	0.6318	H	0.96777	3.88	0.46044	D	0.998838	D	0.89917	1.0	D	0.97110	1.0	D	0.89962	0.4087	10	0.87932	D	0	-8.9699	10.5984	0.45352	0.4733:0.5267:0.0:0.0	.	120	Q5VXI9	LIPN_HUMAN	W	120	ENSP00000383923:R120W	ENSP00000383923:R120W	R	+	1	2	LIPN	90514278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.076000	0.30729	1.208000	0.43306	0.655000	0.94253	CGG		0.428	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751	
LIPN	643418	broad.mit.edu	37	10	90537886	90537886	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:90537886C>A	ENST00000404459.1	+	9	1084	c.1084C>A	c.(1084-1086)Ctt>Att	p.L362I		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	362					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.L362I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AATCAAGAGTCTTCATTACTT	0.468																																					p.L362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1084A	10						.						118.0	111.0	114.0					10																	90537886		1924	4132	6056	90527866	SO:0001583	missense	643418	exon9				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.1084C>A	10.37:g.90537886C>A	ENSP00000383923:p.Leu362Ile	Somatic		Capture	Illumina HiSeq	Phase_I	90527866	NM_001102469	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232764	0.58777	.	.	ENSG00000204020	ENST00000404459	T	0.61627	0.09	5.21	4.3	0.51218	Alpha/beta hydrolase fold-1 (1);	0.000000	0.53938	D	0.000044	T	0.64080	0.2566	L	0.53561	1.675	0.29524	N	0.853301	P	0.51537	0.946	P	0.58130	0.833	T	0.61148	-0.7121	10	0.38643	T	0.18	-22.217	10.0993	0.42495	0.0:0.8381:0.0:0.1619	.	362	Q5VXI9	LIPN_HUMAN	I	362	ENSP00000383923:L362I	ENSP00000383923:L362I	L	+	1	0	LIPN	90527866	0.897000	0.30589	0.277000	0.24703	0.720000	0.41350	0.745000	0.26259	1.570000	0.49709	0.643000	0.83706	CTT		0.468	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751	
IFIT3	3437	broad.mit.edu	37	10	91099769	91099769	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91099769A>G	ENST00000371818.4	+	2	1537	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	IFIT3_ENST00000371811.4_Missense_Mutation_p.I453V|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	453					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.I453V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CCCTTCAGGCATAGGCAGTAT	0.512																																					p.I453V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1357G	10						.						74.0	76.0	75.0					10																	91099769		2203	4300	6503	91089749	SO:0001583	missense	3437	exon2			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1357A>G	10.37:g.91099769A>G	ENSP00000360883:p.Ile453Val	Somatic		Capture	Illumina HiSeq	Phase_I	91089749	NM_001549	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	9.965	1.223859	0.22457	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.11712	2.75;2.75	5.54	1.54	0.23209	.	0.106801	0.38605	N	0.001623	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	B	0.22480	0.07	B	0.19148	0.024	T	0.42799	-0.9430	10	0.07990	T	0.79	-10.2314	5.8709	0.18802	0.595:0.3199:0.085:0.0	.	453	O14879	IFIT3_HUMAN	V	453;453;274	ENSP00000360883:I453V;ENSP00000360876:I453V	ENSP00000360876:I453V	I	+	1	0	IFIT3	91089749	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	0.249000	0.18216	0.440000	0.26502	0.533000	0.62120	ATA		0.512	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549	
IFIT1	3434	broad.mit.edu	37	10	91162349	91162349	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91162349A>G	ENST00000371804.3	+	2	484	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	IFIT1_ENST00000546318.1_Missense_Mutation_p.Y75C|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	106					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.Y106C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TGGATGTATTACCACATGGGC	0.463																																					p.Y106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A317G	10						.						47.0	47.0	47.0					10																	91162349		2203	4300	6503	91152329	SO:0001583	missense	3434	exon2			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.317A>G	10.37:g.91162349A>G	ENSP00000360869:p.Tyr106Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91152329	NM_001548	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854117	0.71719	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.74526	-0.85;-0.85	5.35	4.2	0.49525	Tetratricopeptide-like helical (1);	0.133844	0.52532	D	0.000078	D	0.87641	0.6228	M	0.91459	3.21	0.36508	D	0.8694	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90633	0.4568	10	0.56958	D	0.05	.	11.1818	0.48633	0.8623:0.0:0.0:0.1377	.	106;106	Q5T7J1;P09914	.;IFIT1_HUMAN	C	106;75	ENSP00000360869:Y106C;ENSP00000441968:Y75C	ENSP00000360869:Y106C	Y	+	2	0	IFIT1	91152329	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	6.390000	0.73204	0.939000	0.37446	0.460000	0.39030	TAC		0.463	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548	
SLC16A12	387700	broad.mit.edu	37	10	91196012	91196012	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91196012G>T	ENST00000341233.4	-	7	1393	c.1003C>A	c.(1003-1005)Ctc>Atc	p.L335I	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L365I	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L335I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGGAGGCAGAGATAGCAGAGC	0.468																																					p.L365I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1093A	10						.						136.0	117.0	123.0					10																	91196012		2203	4300	6503	91185992	SO:0001583	missense	387700	exon7				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1003C>A	10.37:g.91196012G>T	ENSP00000343022:p.Leu335Ile	Somatic		Capture	Illumina HiSeq	Phase_I	91185992	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.069610	0.76301	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	D;D	0.82255	-1.59;-1.59	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.201212	0.44902	D	0.000415	D	0.87289	0.6140	L	0.58101	1.795	0.47698	D	0.999496	D	0.63046	0.992	P	0.61070	0.883	D	0.86691	0.1923	10	0.49607	T	0.09	.	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	335	Q6ZSM3	MOT12_HUMAN	I	335;365	ENSP00000343022:L335I;ENSP00000360855:L365I	ENSP00000343022:L335I	L	-	1	0	SLC16A12	91185992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.767000	0.38501	2.793000	0.96121	0.655000	0.94253	CTC		0.468	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
SLC16A12	387700	broad.mit.edu	37	10	91201005	91201005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91201005G>T	ENST00000341233.4	-	5	608	c.218C>A	c.(217-219)cCa>cAa	p.P73Q	SLC16A12_ENST00000371790.4_Missense_Mutation_p.P103Q	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.P73Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ACTCCCAAGTGGAGCTTCAAA	0.463																																					p.P103Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308A	10						.						95.0	80.0	85.0					10																	91201005		2203	4300	6503	91190985	SO:0001583	missense	387700	exon5				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.218C>A	10.37:g.91201005G>T	ENSP00000343022:p.Pro73Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91190985	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	G	31	5.084437	0.94100	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.61859	0.07;0.07	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88509	0.3088	10	0.87932	D	0	.	19.1847	0.93639	0.0:0.0:1.0:0.0	.	73	Q6ZSM3	MOT12_HUMAN	Q	73;103	ENSP00000343022:P73Q;ENSP00000360855:P103Q	ENSP00000343022:P73Q	P	-	2	0	SLC16A12	91190985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.821000	0.99360	2.882000	0.98803	0.655000	0.94253	CCA		0.463	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
PANK1	53354	broad.mit.edu	37	10	91348501	91348501	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91348501G>T	ENST00000307534.4	-	6	1800	c.1645C>A	c.(1645-1647)Ctc>Atc	p.L549I	PANK1_ENST00000322191.6_Missense_Mutation_p.L265I|PANK1_ENST00000342512.3_Missense_Mutation_p.L324I|PANK1_ENST00000371774.2_Missense_Mutation_p.L351I	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	549					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L549I(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTGATTCTGAGAAAATTTCCA	0.368																																					p.L324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C970A	10						.						74.0	72.0	73.0					10																	91348501		2203	4300	6503	91338481	SO:0001583	missense	53354	exon6			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1645C>A	10.37:g.91348501G>T	ENSP00000302108:p.Leu549Ile	Somatic		Capture	Illumina HiSeq	Phase_I	91338481	NM_148978	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751796	0.69533	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99466	-5.95;-5.75;-5.95;-5.95	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	L	0.31526	0.94	0.80722	D	1	D;D;P;D	0.89917	0.999;0.999;0.931;1.0	D;D;P;D	0.91635	0.996;0.999;0.872;0.998	D	0.97331	0.9950	10	0.07990	T	0.79	.	14.3309	0.66556	0.0709:0.0:0.9291:0.0	.	351;549;265;324	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	I	324;265;351;549;412	ENSP00000345118:L324I;ENSP00000318526:L265I;ENSP00000360839:L351I;ENSP00000302108:L549I	ENSP00000302108:L549I	L	-	1	0	PANK1	91338481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.836000	0.97738	0.655000	0.94253	CTC		0.368	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
KIF20B	9585	broad.mit.edu	37	10	91497569	91497569	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:91497569G>A	ENST00000371728.3	+	20	3036	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E951K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E991K|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1021K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	991					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E951K(3)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAATAGACGAACTACGTAC	0.338																																					p.E951K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2851A	10						.						60.0	64.0	63.0					10																	91497569		2203	4299	6502	91487549	SO:0001583	missense	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2971G>A	10.37:g.91497569G>A	ENSP00000360793:p.Glu991Lys	Somatic		Capture	Illumina HiSeq	Phase_I	91487549	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.216206	0.39201	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70164	-0.37;-0.38;-0.46;-0.39	5.69	2.47	0.30058	.	0.231808	0.30455	N	0.009582	T	0.48295	0.1492	L	0.40543	1.245	0.32394	N	0.552863	P;P	0.40638	0.462;0.725	B;B	0.30646	0.023;0.118	T	0.59306	-0.7479	10	0.33940	T	0.23	-9.2566	9.3056	0.37874	0.1501:0.1249:0.725:0.0	.	991;951	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	951;1021;991;991	ENSP00000260753:E951K;ENSP00000411545:E1021K;ENSP00000377830:E991K;ENSP00000360793:E991K	ENSP00000260753:E951K	E	+	1	0	KIF20B	91487549	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	1.275000	0.33144	1.398000	0.46701	0.591000	0.81541	GAA		0.338	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
HTR7	3363	broad.mit.edu	37	10	92503398	92503398	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:92503398C>T	ENST00000336152.3	-	3	1371	c.1345G>A	c.(1345-1347)Gta>Ata	p.V449I	HTR7_ENST00000371721.3_Intron|HTR7_ENST00000277874.6_Intron|HTR7_ENST00000371719.2_Intron	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	449					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.V449I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CACACAGATACCGGTGGCCTC	0.463																																					p.V449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345A	10						.						182.0	152.0	162.0					10																	92503398		2203	4300	6503	92493378	SO:0001583	missense	3363	exon3			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1345G>A	10.37:g.92503398C>T	ENSP00000337949:p.Val449Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92493378	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	5.819	0.335307	0.11013	.	.	ENSG00000148680	ENST00000336152	T	0.64260	-0.09	2.95	0.553	0.17235	.	1.455540	0.04841	N	0.440470	T	0.39306	0.1073	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.19257	-1.0311	10	0.30854	T	0.27	.	4.6288	0.12491	0.0:0.2826:0.0:0.7174	.	449	P34969	5HT7R_HUMAN	I	449	ENSP00000337949:V449I	ENSP00000337949:V449I	V	-	1	0	HTR7	92493378	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.671000	0.05250	0.118000	0.18165	0.461000	0.40582	GTA		0.463	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:92675933C>A	ENST00000371697.3	-	6	894	c.646G>T	c.(646-648)Gat>Tat	p.D216Y		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522																																					p.D216Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646T	10						.						82.0	79.0	80.0					10																	92675933		2203	4300	6503	92665913	SO:0001583	missense	27063	exon6			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>T	10.37:g.92675933C>A	ENSP00000360762:p.Asp216Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	92665913	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477978	0.84747	.	.	ENSG00000148677	ENST00000371697	T	0.60424	0.19	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.92784	3.345	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.86766	0.1970	10	0.87932	D	0	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	Y	216	ENSP00000360762:D216Y	ENSP00000360762:D216Y	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT		0.522	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
ANKRD1	27063	broad.mit.edu	37	10	92680037	92680037	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:92680037C>A	ENST00000371697.3	-	2	344	c.96G>T	c.(94-96)gaG>gaT	p.E32D	RNU6-740P_ENST00000364734.1_RNA	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	32					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.E32D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CAGCTTCATACTCTCCATCTC	0.507																																					p.E32D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G96T	10						.						253.0	251.0	252.0					10																	92680037		2203	4300	6503	92670017	SO:0001583	missense	27063	exon2			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.96G>T	10.37:g.92680037C>A	ENSP00000360762:p.Glu32Asp	Somatic		Capture	Illumina HiSeq	Phase_I	92670017	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143732	0.37825	.	.	ENSG00000148677	ENST00000371697	T	0.68479	-0.33	5.76	-3.42	0.04825	.	0.291689	0.33092	N	0.005289	T	0.42381	0.1200	N	0.20986	0.625	0.41720	D	0.989507	B	0.09022	0.002	B	0.09377	0.004	T	0.08973	-1.0696	10	0.17369	T	0.5	.	9.1118	0.36732	0.0:0.3578:0.1011:0.5411	.	32	Q15327	ANKR1_HUMAN	D	32	ENSP00000360762:E32D	ENSP00000360762:E32D	E	-	3	2	ANKRD1	92670017	0.877000	0.30153	0.971000	0.41717	0.483000	0.33249	-0.017000	0.12590	-0.271000	0.09272	0.650000	0.86243	GAG		0.507	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
HECTD2	143279	broad.mit.edu	37	10	93258674	93258674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93258674C>T	ENST00000298068.5	+	17	1895	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	HECTD2_ENST00000536715.1_Missense_Mutation_p.P190S|HECTD2_ENST00000371667.1_Missense_Mutation_p.P251S|HECTD2_ENST00000446394.1_Missense_Mutation_p.P605S	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	601	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P601S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TAATTTAAAGCCCGGTGGTGA	0.274																																					p.P601S	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1801T	10						.						41.0	44.0	43.0					10																	93258674		2179	4287	6466	93248654	SO:0001583	missense	143279	exon17			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1801C>T	10.37:g.93258674C>T	ENSP00000298068:p.Pro601Ser	Somatic		Capture	Illumina HiSeq	Phase_I	93248654	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141290	0.57044	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.86	4.95	0.65309	HECT (4);	0.053068	0.85682	D	0.000000	T	0.51652	0.1687	M	0.74389	2.26	0.58432	D	0.999999	B;B	0.27951	0.195;0.125	B;B	0.31337	0.128;0.062	T	0.55153	-0.8185	10	0.56958	D	0.05	.	14.9602	0.71151	0.0:0.9298:0.0:0.0702	.	605;601	E7ERR3;Q5U5R9	.;HECD2_HUMAN	S	605;601;190;251	ENSP00000401023:P605S;ENSP00000298068:P601S;ENSP00000439687:P190S;ENSP00000360731:P251S	ENSP00000298068:P601S	P	+	1	0	HECTD2	93248654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.228000	0.58619	2.776000	0.95493	0.650000	0.86243	CCC		0.274	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
PPP1R3C	5507	broad.mit.edu	37	10	93390277	93390277	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93390277C>T	ENST00000238994.5	-	2	445	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C									p.D121N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAGGAGATATCATTAAGGTCC	0.473																																					p.D121N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	10						.						77.0	79.0	78.0					10																	93390277		2203	4300	6503	93380257	SO:0001583	missense	5507	exon2			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.361G>A	10.37:g.93390277C>T	ENSP00000238994:p.Asp121Asn	Somatic		Capture	Illumina HiSeq	Phase_I	93380257	NM_005398		Missense_Mutation	SNP	ENST00000238994.5	37	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695933	0.30052	.	.	ENSG00000119938	ENST00000238994;ENST00000438999	T	0.46819	0.86	5.79	4.85	0.62838	.	0.384176	0.28940	N	0.013649	T	0.40398	0.1115	L	0.47016	1.485	0.38594	D	0.950501	B	0.06786	0.001	B	0.06405	0.002	T	0.29941	-0.9995	10	0.28530	T	0.3	-12.9548	12.0415	0.53456	0.0:0.8502:0.0:0.1498	.	121	Q9UQK1	PPR3C_HUMAN	N	121	ENSP00000238994:D121N	ENSP00000238994:D121N	D	-	1	0	PPP1R3C	93380257	0.774000	0.28592	0.755000	0.31263	0.752000	0.42762	1.545000	0.36169	1.357000	0.45904	-0.345000	0.07892	GAT		0.473	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398	
TNKS2	80351	broad.mit.edu	37	10	93572948	93572948	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93572948G>T	ENST00000371627.4	+	2	787	c.408G>T	c.(406-408)aaG>aaT	p.K136N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	136					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K136N(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTAAAGGAAAGATTGATGTTT	0.358																																					p.K136N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G408T	10						.						81.0	79.0	80.0					10																	93572948		2203	4300	6503	93562928	SO:0001583	missense	80351	exon2			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.408G>T	10.37:g.93572948G>T	ENSP00000360689:p.Lys136Asn	Somatic		Capture	Illumina HiSeq	Phase_I	93562928	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454194	0.63290	.	.	ENSG00000107854	ENST00000371627	T	0.61274	0.12	5.83	1.37	0.22104	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000021	T	0.40040	0.1101	N	0.00859	-1.14	0.45791	D	0.998672	D	0.61697	0.99	P	0.62649	0.905	T	0.52815	-0.8525	10	0.54805	T	0.06	.	9.5523	0.39317	0.5492:0.0:0.4508:0.0	.	136	Q9H2K2	TNKS2_HUMAN	N	136	ENSP00000360689:K136N	ENSP00000360689:K136N	K	+	3	2	TNKS2	93562928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.215000	0.32431	0.218000	0.20820	-0.140000	0.14226	AAG		0.358	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
TNKS2	80351	broad.mit.edu	37	10	93579265	93579265	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93579265C>T	ENST00000371627.4	+	5	963	c.584C>T	c.(583-585)gCt>gTt	p.A195V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	195					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A195V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAATGATGGCTCTACTCACA	0.368																																					p.A195V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584T	10						.						140.0	141.0	141.0					10																	93579265		2203	4300	6503	93569245	SO:0001583	missense	80351	exon5			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.584C>T	10.37:g.93579265C>T	ENSP00000360689:p.Ala195Val	Somatic		Capture	Illumina HiSeq	Phase_I	93569245	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961376	0.74016	.	.	ENSG00000107854	ENST00000371627	T	0.16073	2.37	5.79	4.88	0.63580	Ankyrin repeat-containing domain (3);	0.217726	0.31963	N	0.006786	T	0.18964	0.0455	L	0.28608	0.87	0.50039	D	0.999845	B	0.33299	0.407	B	0.39771	0.309	T	0.03249	-1.1056	10	0.48119	T	0.1	.	16.8835	0.86069	0.0:0.8717:0.1283:0.0	.	195	Q9H2K2	TNKS2_HUMAN	V	195	ENSP00000360689:A195V	ENSP00000360689:A195V	A	+	2	0	TNKS2	93569245	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.862000	0.62976	1.428000	0.47296	-0.182000	0.12963	GCT		0.368	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
BTAF1	9044	broad.mit.edu	37	10	93702224	93702224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93702224G>A	ENST00000265990.6	+	4	607	c.299G>A	c.(298-300)cGa>cAa	p.R100Q		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	100					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R100Q(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTACAGAGCGATTGAATTTT	0.363																																					p.R100Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	10						.						120.0	115.0	117.0					10																	93702224		2203	4300	6503	93692204	SO:0001583	missense	9044	exon4			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.299G>A	10.37:g.93702224G>A	ENSP00000265990:p.Arg100Gln	Somatic		Capture	Illumina HiSeq	Phase_I	93692204	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107717	0.77096	.	.	ENSG00000095564	ENST00000265990	D	0.90069	-2.61	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	N	0.25485	0.75	0.80722	D	1	P	0.41313	0.745	B	0.22753	0.041	T	0.78735	-0.2088	10	0.12430	T	0.62	-11.4017	19.8695	0.96845	0.0:0.0:1.0:0.0	.	100	O14981	BTAF1_HUMAN	Q	100	ENSP00000265990:R100Q	ENSP00000265990:R100Q	R	+	2	0	BTAF1	93692204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.299000	0.96137	2.684000	0.91462	0.650000	0.86243	CGA		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
BTAF1	9044	broad.mit.edu	37	10	93719585	93719585	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93719585G>T	ENST00000265990.6	+	10	1342	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	345					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R345I(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGTTATTAGACTCCTTTGT	0.303																																					p.R345I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034T	10						.						158.0	151.0	154.0					10																	93719585		2203	4300	6503	93709565	SO:0001583	missense	9044	exon10			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1034G>T	10.37:g.93719585G>T	ENSP00000265990:p.Arg345Ile	Somatic		Capture	Illumina HiSeq	Phase_I	93709565	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102782	0.94245	.	.	ENSG00000095564	ENST00000265990	T	0.64803	-0.12	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83815	0.5336	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86688	0.1921	10	0.87932	D	0	-3.458	19.628	0.95687	0.0:0.0:1.0:0.0	.	345	O14981	BTAF1_HUMAN	I	345	ENSP00000265990:R345I	ENSP00000265990:R345I	R	+	2	0	BTAF1	93709565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.648000	0.89879	0.650000	0.86243	AGA		0.303	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
CPEB3	22849	broad.mit.edu	37	10	93851605	93851605	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93851605G>T	ENST00000265997.4	-	8	1841	c.1669C>A	c.(1669-1671)Cca>Aca	p.P557T	CPEB3_ENST00000412050.4_Missense_Mutation_p.P543T	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	557	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P557T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGGGGTCGTGGAACTCCCCCA	0.428																																					p.P543T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1627A	10						.						95.0	87.0	89.0					10																	93851605		2203	4300	6503	93841585	SO:0001583	missense	22849	exon8			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1669C>A	10.37:g.93851605G>T	ENSP00000265997:p.Pro557Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93841585	NM_001178137	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801782	0.90538	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.21031	2.03;2.03	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.68108	-0.5496	10	0.72032	D	0.01	-2.9769	20.1634	0.98142	0.0:0.0:1.0:0.0	.	557;543;543	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	T	543;543;557	ENSP00000398310:P543T;ENSP00000265997:P557T	ENSP00000265997:P557T	P	-	1	0	CPEB3	93841585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.790000	0.99075	2.773000	0.95371	0.655000	0.94253	CCA		0.428	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
IDE	3416	broad.mit.edu	37	10	94267882	94267882	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94267882C>T	ENST00000265986.6	-	8	1197	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	381					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.E381K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AATCCTTCCTCGGTCAAGTCC	0.348																																					p.E381K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141A	10						.						137.0	146.0	143.0					10																	94267882		2203	4300	6503	94257862	SO:0001583	missense	3416	exon8			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1141G>A	10.37:g.94267882C>T	ENSP00000265986:p.Glu381Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94257862	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057384	0.76074	.	.	ENSG00000119912	ENST00000265986	T	0.20598	2.06	5.24	5.24	0.73138	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.45137	1.4	0.80722	D	1	P	0.47409	0.895	P	0.49799	0.622	T	0.01108	-1.1449	10	0.49607	T	0.09	-15.2854	19.1951	0.93684	0.0:1.0:0.0:0.0	.	381	P14735	IDE_HUMAN	K	381	ENSP00000265986:E381K	ENSP00000265986:E381K	E	-	1	0	IDE	94257862	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.674000	0.83992	2.615000	0.88500	0.557000	0.71058	GAG		0.348	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
KIF11	3832	broad.mit.edu	37	10	94393485	94393485	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94393485T>G	ENST00000260731.3	+	14	1898	c.1808T>G	c.(1807-1809)aTt>aGt	p.I603S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	603					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.I603S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTTCTCAGATTTTTAATATG	0.338																																					p.I603S	Colon(47;212 1003 2764 4062 8431)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1808G	10						.						94.0	92.0	92.0					10																	94393485		2203	4295	6498	94383465	SO:0001583	missense	3832	exon14			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1808T>G	10.37:g.94393485T>G	ENSP00000260731:p.Ile603Ser	Somatic		Capture	Illumina HiSeq	Phase_I	94383465	NM_004523	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.664123	0.03428	.	.	ENSG00000138160	ENST00000260731	T	0.70399	-0.48	5.97	5.97	0.96955	.	0.374560	0.28555	N	0.014925	T	0.53077	0.1774	L	0.29908	0.895	0.20926	N	0.999823	B	0.20671	0.047	B	0.09377	0.004	T	0.35101	-0.9802	10	0.24483	T	0.36	.	5.6966	0.17859	0.1503:0.0783:0.0:0.7714	.	603	P52732	KIF11_HUMAN	S	603	ENSP00000260731:I603S	ENSP00000260731:I603S	I	+	2	0	KIF11	94383465	1.000000	0.71417	0.410000	0.26471	0.292000	0.27327	3.183000	0.50918	2.287000	0.76781	0.482000	0.46254	ATT		0.338	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	
EXOC6	54536	broad.mit.edu	37	10	94688173	94688173	+	Silent	SNP	G	G	A	rs534862457	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94688173G>A	ENST00000260762.6	+	9	980	c.966G>A	c.(964-966)tcG>tcA	p.S322S	EXOC6_ENST00000371547.4_Silent_p.S338S|EXOC6_ENST00000371552.4_Silent_p.S317S|EXOC6_ENST00000443748.2_Silent_p.S299S	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	322					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.S322S(1)|p.S317S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AACCCCAGTCGAATATGGTAA	0.338													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0				p.S317S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G951A	10						.						97.0	102.0	100.0					10																	94688173		2203	4300	6503	94678153	SO:0001819	synonymous_variant	54536	exon9			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.966G>A	10.37:g.94688173G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94678153	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	CCDS7424.2																																																																																				0.338	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
EXOC6	54536	broad.mit.edu	37	10	94733957	94733957	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94733957A>G	ENST00000260762.6	+	18	1935	c.1921A>G	c.(1921-1923)Aga>Gga	p.R641G	EXOC6_ENST00000371547.4_Missense_Mutation_p.R657G|EXOC6_ENST00000371552.4_Missense_Mutation_p.R636G|EXOC6_ENST00000443748.2_Missense_Mutation_p.R538G	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	641					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.R641G(1)|p.R636G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AAATTTTTTGAGAAGCATCTT	0.289																																					p.R636G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1906G	10						.						70.0	68.0	69.0					10																	94733957		2203	4300	6503	94723937	SO:0001583	missense	54536	exon18			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1921A>G	10.37:g.94733957A>G	ENSP00000260762:p.Arg641Gly	Somatic		Capture	Illumina HiSeq	Phase_I	94723937	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633278	0.47049	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.37	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.66939	2.045	0.58432	D	0.999995	P;P;P;P;P;P	0.51240	0.895;0.943;0.741;0.866;0.741;0.741	B;P;B;P;B;B	0.53988	0.313;0.739;0.405;0.507;0.405;0.405	T	0.48317	-0.9046	10	0.72032	D	0.01	-14.8724	12.4498	0.55671	0.8603:0.1397:0.0:0.0	.	657;538;633;594;641;636	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	G	657;636;538;641	ENSP00000360602:R657G;ENSP00000360607:R636G;ENSP00000396206:R538G;ENSP00000260762:R641G	ENSP00000260762:R641G	R	+	1	2	EXOC6	94723937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.709000	0.61867	2.009000	0.58944	0.533000	0.62120	AGA		0.289	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
EXOC6	54536	broad.mit.edu	37	10	94818043	94818043	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94818043A>G	ENST00000260762.6	+	22	2360	c.2346A>G	c.(2344-2346)aaA>aaG	p.K782K	CYP26C1_ENST00000285949.5_5'Flank|RP11-348J12.2_ENST00000444965.1_RNA|EXOC6_ENST00000371547.4_Silent_p.K798K|EXOC6_ENST00000371552.4_Silent_p.K777K|EXOC6_ENST00000443748.2_Silent_p.K679K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	782					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.K777K(1)|p.K782K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATCGAGACAAACAGAAGTTGA	0.403																																					p.K777K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2331G	10						.						132.0	123.0	126.0					10																	94818043		2203	4300	6503	94808033	SO:0001819	synonymous_variant	54536	exon22			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2346A>G	10.37:g.94818043A>G		Somatic		Capture	Illumina HiSeq	Phase_I	94808033	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	CCDS7424.2																																																																																				0.403	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
CYP26A1	1592	broad.mit.edu	37	10	94834710	94834710	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94834710G>A	ENST00000224356.4	+	3	634	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E128K|CYP26A1_ENST00000371531.1_Missense_Mutation_p.E128K	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	197					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.E128K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ACTGGGCTGCGAACCCCAACT	0.652																																					p.E128K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	10						.						39.0	45.0	43.0					10																	94834710		2203	4298	6501	94824700	SO:0001583	missense	1592	exon3			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.589G>A	10.37:g.94834710G>A	ENSP00000224356:p.Glu197Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94824700	NM_057157	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195151	0.38806	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.69040	-0.37;-0.37;-0.37	5.03	5.03	0.67393	.	0.214633	0.46145	D	0.000302	T	0.63153	0.2487	L	0.59912	1.85	0.40322	D	0.978832	B;B	0.18741	0.001;0.03	B;B	0.19391	0.003;0.025	T	0.60591	-0.7233	10	0.35671	T	0.21	-27.1779	14.4051	0.67075	0.0:0.1908:0.8092:0.0	.	128;197	B3KNI4;O43174	.;CP26A_HUMAN	K	128;197;128	ENSP00000360586:E128K;ENSP00000224356:E197K;ENSP00000377695:E128K	ENSP00000224356:E197K	E	+	1	0	CYP26A1	94824700	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	3.694000	0.54742	2.618000	0.88619	0.462000	0.41574	GAA		0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3		
CYP26A1	1592	broad.mit.edu	37	10	94835632	94835632	+	Missense_Mutation	SNP	C	C	T	rs142962735		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:94835632C>T	ENST00000224356.4	+	5	959	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CYP26A1_ENST00000394139.1_Missense_Mutation_p.T236M|CYP26A1_ENST00000371531.1_Missense_Mutation_p.T236M	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	305					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.T236M(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CACGAAACCACGGCCAGTGCA	0.507																																					p.T236M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C707T	10						.	C	MET/THR,MET/THR	0,4406		0,0,2203	77.0	74.0	75.0		914,707	5.2	1.0	10	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP26A1	NM_000783.3,NM_057157.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	305/498,236/429	94835632	1,13005	2203	4300	6503	94825622	SO:0001583	missense	1592	exon5			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.914C>T	10.37:g.94835632C>T	ENSP00000224356:p.Thr305Met	Somatic		Capture	Illumina HiSeq	Phase_I	94825622	NM_057157	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803000	0.90623	0.0	1.16E-4	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.78364	-1.17;-1.17;-1.17	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.979	D	0.92416	0.5941	10	0.62326	D	0.03	-17.5133	19.0472	0.93027	0.0:1.0:0.0:0.0	.	236;305	B3KNI4;O43174	.;CP26A_HUMAN	M	236;305;236	ENSP00000360586:T236M;ENSP00000224356:T305M;ENSP00000377695:T236M	ENSP00000224356:T305M	T	+	2	0	CYP26A1	94825622	1.000000	0.71417	0.973000	0.42090	0.997000	0.91878	7.103000	0.77014	2.749000	0.94314	0.655000	0.94253	ACG		0.507	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3		
MYOF	26509	broad.mit.edu	37	10	95089560	95089560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95089560C>A	ENST00000359263.4	-	44	4842	c.4843G>T	c.(4843-4845)Gaa>Taa	p.E1615*	MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E1602*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E1634*|MYOF_ENST00000371501.4_Nonsense_Mutation_p.E1615*	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1615	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.E1615*(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGTCTTTTTCTTGAGGTAAG	0.398																																					p.E1602X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4804T	10						.						140.0	132.0	134.0					10																	95089560		1846	4103	5949	95079550	SO:0001587	stop_gained	26509	exon43			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4843G>T	10.37:g.95089560C>A	ENSP00000352208:p.Glu1615*	Somatic		Capture	Illumina HiSeq	Phase_I	95079550	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	47	13.721572	0.99759	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	5.3	5.3	0.74995	.	0.203359	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.4668	19.1392	0.93441	0.0:1.0:0.0:0.0	.	.	.	.	X	1602;1615;1615;1634	.	ENSP00000351094:E1602X	E	-	1	0	MYOF	95079550	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.289000	0.78701	2.765000	0.95021	0.555000	0.69702	GAA		0.398	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
MYOF	26509	broad.mit.edu	37	10	95241944	95241944	+	Missense_Mutation	SNP	C	C	T	rs185721667	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95241944C>T	ENST00000359263.4	-	1	7	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	MYOF_ENST00000371488.3_Missense_Mutation_p.R3Q|MYOF_ENST00000358334.5_Missense_Mutation_p.R3Q|MYOF_ENST00000371502.4_Missense_Mutation_p.R3Q|MYOF_ENST00000371489.1_Missense_Mutation_p.R3Q|MYOF_ENST00000371501.4_Missense_Mutation_p.R3Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	3	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.R3Q(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACAATCACTCGCAGCATGGT	0.473													C|||	6	0.00119808	0.0	0.0	5008	,	,		19724	0.0		0.006	False		,,,				2504	0.0				p.R3Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8A	10						.	C	GLN/ARG,GLN/ARG	0,3736		0,0,1868	98.0	93.0	94.0		8,8	5.6	0.9	10		94	3,8225		0,3,4111	yes	missense,missense	MYOF	NM_013451.3,NM_133337.2	43,43	0,3,5979	TT,TC,CC		0.0365,0.0,0.0251	probably-damaging,probably-damaging	3/2062,3/2049	95241944	3,11961	1868	4114	5982	95231934	SO:0001583	missense	26509	exon1			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.8G>A	10.37:g.95241944C>T	ENSP00000352208:p.Arg3Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95231934	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.87	3.243097	0.58995	0.0	3.65E-4	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089716	0.43919	D	0.000508	T	0.77552	0.4147	L	0.46157	1.445	0.49299	D	0.99977	D;D	0.89917	0.999;1.0	D;D	0.85130	0.966;0.997	T	0.78295	-0.2259	10	0.62326	D	0.03	-2.6514	16.5131	0.84292	0.0:1.0:0.0:0.0	.	3;3	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	3	ENSP00000351094:R3Q;ENSP00000352208:R3Q;ENSP00000360556:R3Q;ENSP00000360557:R3Q;ENSP00000360544:R3Q;ENSP00000360543:R3Q	ENSP00000351094:R3Q	R	-	2	0	MYOF	95231934	1.000000	0.71417	0.941000	0.38009	0.946000	0.59487	5.565000	0.67365	2.648000	0.89879	0.561000	0.74099	CGA		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
CEP55	55165	broad.mit.edu	37	10	95276928	95276928	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95276928A>C	ENST00000371485.3	+	6	1220	c.916A>C	c.(916-918)Aaa>Caa	p.K306Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	306					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.K306Q(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGATACAAAAACTCAGGGA	0.373																																					p.K306Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A916C	10						.						121.0	131.0	127.0					10																	95276928		2203	4300	6503	95266918	SO:0001583	missense	55165	exon6			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.916A>C	10.37:g.95276928A>C	ENSP00000360540:p.Lys306Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95266918	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.292|7.292	0.611287|0.611287	0.14066|0.14066	.|.	.|.	ENSG00000138180|ENSG00000138180	ENST00000445435|ENST00000371485;ENST00000358339	.|T	.|0.18960	.|2.18	5.74|5.74	4.58|4.58	0.56647|0.56647	.|.	0.328239|0.328239	0.40064|0.40064	N|N	0.001200|0.001200	T|T	0.19087|0.19087	0.0458|0.0458	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.11329	.|0.006	T|T	0.13415|0.13415	-1.0510|-1.0510	6|10	.|0.29301	.|T	.|0.29	-2.8673|-2.8673	12.8306|12.8306	0.57744|0.57744	0.8636:0.1364:0.0:0.0|0.8636:0.1364:0.0:0.0	.|.	.|306	.|Q53EZ4	.|CEP55_HUMAN	N|Q	145|306	.|ENSP00000360540:K306Q	.|ENSP00000351102:K306Q	K|K	+|+	3|1	2|0	CEP55|CEP55	95266918|95266918	0.495000|0.495000	0.26051|0.26051	0.179000|0.179000	0.23059|0.23059	0.162000|0.162000	0.22319|0.22319	3.692000|3.692000	0.54727|0.54727	0.953000|0.953000	0.37825|0.37825	0.459000|0.459000	0.35465|0.35465	AAA|AAA		0.373	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
PDE6C	5146	broad.mit.edu	37	10	95400691	95400691	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95400691G>T	ENST00000371447.3	+	14	1890	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	584					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.K584N(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GAAGATTAAAGAAGTACTACA	0.353																																					p.K584N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1752T	10						.						102.0	93.0	96.0					10																	95400691		2203	4300	6503	95390681	SO:0001583	missense	5146	exon14			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1752G>T	10.37:g.95400691G>T	ENSP00000360502:p.Lys584Asn	Somatic		Capture	Illumina HiSeq	Phase_I	95390681	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480464	0.63849	.	.	ENSG00000095464	ENST00000371447	D	0.81821	-1.54	5.2	4.3	0.51218	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	1.148130	0.06245	N	0.691061	D	0.87834	0.6277	L	0.55481	1.735	0.54753	D	0.999985	D	0.69078	0.997	D	0.65140	0.932	T	0.79057	-0.1959	10	0.62326	D	0.03	.	13.8284	0.63366	0.0733:0.0:0.9267:0.0	.	584	P51160	PDE6C_HUMAN	N	584	ENSP00000360502:K584N	ENSP00000360502:K584N	K	+	3	2	PDE6C	95390681	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.102000	0.71486	1.435000	0.47434	0.563000	0.77884	AAG		0.353	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
LGI1	9211	broad.mit.edu	37	10	95557087	95557087	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95557087C>A	ENST00000371418.4	+	8	1461	c.1201C>A	c.(1201-1203)Ctg>Atg	p.L401M	LGI1_ENST00000542308.1_Missense_Mutation_p.L353M|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	401					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.L401M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCATTTAATTCTGTCTAGTAG	0.428																																					p.L401M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201A	10						.						101.0	89.0	93.0					10																	95557087		2203	4300	6503	95547077	SO:0001583	missense	9211	exon8			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1201C>A	10.37:g.95557087C>A	ENSP00000360472:p.Leu401Met	Somatic		Capture	Illumina HiSeq	Phase_I	95547077	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925955	0.34002	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.90788	-2.73;-2.73	4.93	3.1	0.35709	.	0.000000	0.64402	D	0.000001	D	0.93109	0.7806	L	0.58969	1.84	0.58432	D	0.999996	D;D	0.89917	1.0;0.975	D;D	0.91635	0.999;0.951	D	0.91565	0.5267	10	0.44086	T	0.13	-4.6519	11.4777	0.50308	0.0:0.8549:0.0:0.1451	.	353;401	O95970-3;O95970	.;LGI1_HUMAN	M	353;401	ENSP00000440763:L353M;ENSP00000360472:L401M	ENSP00000360472:L401M	L	+	1	2	LGI1	95547077	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	2.008000	0.40893	0.692000	0.31613	-0.126000	0.14955	CTG		0.428	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
PLCE1	51196	broad.mit.edu	37	10	96073131	96073131	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96073131C>A	ENST00000371380.3	+	27	6359	c.6124C>A	c.(6124-6126)Ctg>Atg	p.L2042M	PLCE1_ENST00000371375.1_Missense_Mutation_p.L1734M|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.L1734M|PLCE1_ENST00000260766.3_Missense_Mutation_p.L2042M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2042	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L2042M(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAGCTTCTGCAGCAAGT	0.468																																					p.L2042M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6124A	10						.						103.0	104.0	104.0					10																	96073131		1946	4143	6089	96063121	SO:0001583	missense	51196	exon28				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6124C>A	10.37:g.96073131C>A	ENSP00000360431:p.Leu2042Met	Somatic		Capture	Illumina HiSeq	Phase_I	96063121	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572168	0.65765	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32753	1.44;1.44;1.48;1.48	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000003	T	0.45955	0.1368	L	0.32530	0.975	0.47441	D	0.999421	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.97110	0.999;1.0;0.998	T	0.13098	-1.0522	10	0.24483	T	0.36	.	19.2384	0.93871	0.0:1.0:0.0:0.0	.	2026;1734;2042	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	M	2042;2042;1734;1734	ENSP00000260766:L2042M;ENSP00000360431:L2042M;ENSP00000360438:L1734M;ENSP00000360426:L1734M	ENSP00000260766:L2042M	L	+	1	2	PLCE1	96063121	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.485000	0.60279	2.648000	0.89879	0.650000	0.86243	CTG		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
NOC3L	64318	broad.mit.edu	37	10	96100079	96100079	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96100079C>A	ENST00000371361.3	-	16	1834	c.1734G>T	c.(1732-1734)ttG>ttT	p.L578F	NOC3L_ENST00000371350.1_Missense_Mutation_p.L578F|NOC3L_ENST00000543788.1_Missense_Mutation_p.L316F	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	578					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.L578F(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGTAGAATTTCAATGGATCAA	0.284																																					p.L578F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1734T	10						.						110.0	107.0	108.0					10																	96100079		2203	4298	6501	96090069	SO:0001583	missense	64318	exon16			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1734G>T	10.37:g.96100079C>A	ENSP00000360412:p.Leu578Phe	Somatic		Capture	Illumina HiSeq	Phase_I	96090069	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807379	0.31961	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.22134	1.97;1.97;1.97	5.41	5.41	0.78517	CCAAT-binding factor (1);	0.105508	0.64402	D	0.000002	T	0.38772	0.1053	L	0.38531	1.155	0.25558	N	0.987018	B	0.32425	0.371	P	0.54270	0.747	T	0.32241	-0.9914	10	0.41790	T	0.15	-19.1469	19.571	0.95419	0.0:1.0:0.0:0.0	.	578	Q8WTT2	NOC3L_HUMAN	F	316;578;578	ENSP00000437838:L316F;ENSP00000360412:L578F;ENSP00000360401:L578F	ENSP00000360401:L578F	L	-	3	2	NOC3L	96090069	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.921000	0.48852	2.709000	0.92574	0.655000	0.94253	TTG		0.284	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96104685	96104685	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96104685C>A	ENST00000371361.3	-	12	1495	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	NOC3L_ENST00000371350.1_Missense_Mutation_p.K465N|NOC3L_ENST00000463649.1_5'Flank|NOC3L_ENST00000543788.1_Missense_Mutation_p.K203N	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	465					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K465N(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTTCTGCTTTCTTCCACTGAA	0.368																																					p.K465N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1395T	10						.						101.0	94.0	96.0					10																	96104685		2202	4299	6501	96094675	SO:0001583	missense	64318	exon12			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1395G>T	10.37:g.96104685C>A	ENSP00000360412:p.Lys465Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96094675	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622182	0.46840	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.15256	2.44;2.66;2.66	6.07	3.26	0.37387	.	0.041659	0.85682	D	0.000000	T	0.25082	0.0609	L	0.49513	1.565	0.51012	D	0.999902	D	0.61697	0.99	P	0.56960	0.81	T	0.01600	-1.1315	10	0.24483	T	0.36	-5.0913	9.2851	0.37753	0.0:0.7308:0.0:0.2692	.	465	Q8WTT2	NOC3L_HUMAN	N	203;465;465	ENSP00000437838:K203N;ENSP00000360412:K465N;ENSP00000360401:K465N	ENSP00000360401:K465N	K	-	3	2	NOC3L	96094675	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.204000	0.32296	0.469000	0.27268	-0.145000	0.13849	AAG		0.368	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96109106	96109106	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96109106C>A	ENST00000371361.3	-	10	1258	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	NOC3L_ENST00000371350.1_Missense_Mutation_p.K386N|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Missense_Mutation_p.K124N	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	386					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K386N(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TAAAGAGTTTCTTCACAGCTT	0.368																																					p.K386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1158T	10						.						83.0	86.0	85.0					10																	96109106		2203	4300	6503	96099096	SO:0001583	missense	64318	exon10			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1158G>T	10.37:g.96109106C>A	ENSP00000360412:p.Lys386Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96099096	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273387	0.59649	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.66460	-0.21;1.47;1.47	5.91	5.91	0.95273	Armadillo-like helical (1);	0.179849	0.64402	D	0.000012	T	0.59905	0.2228	L	0.49350	1.555	0.52099	D	0.999942	B	0.33583	0.418	B	0.31245	0.126	T	0.58295	-0.7661	10	0.35671	T	0.21	-18.3995	13.498	0.61436	0.0:0.9289:0.0:0.0711	.	386	Q8WTT2	NOC3L_HUMAN	N	124;386;386	ENSP00000437838:K124N;ENSP00000360412:K386N;ENSP00000360401:K386N	ENSP00000360401:K386N	K	-	3	2	NOC3L	96099096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.653000	0.46691	2.814000	0.96858	0.650000	0.86243	AAG		0.368	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
HELLS	3070	broad.mit.edu	37	10	96354525	96354525	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96354525G>A	ENST00000348459.5	+	19	2267	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	HELLS_ENST00000371332.4_Missense_Mutation_p.R767H|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R623H|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.R721H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTTGTTTATCGCCTTGTTACA	0.358																																					p.R721H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2162A	10						.						121.0	109.0	113.0					10																	96354525		2203	4300	6503	96344515	SO:0001583	missense	3070	exon19			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2162G>A	10.37:g.96354525G>A	ENSP00000239027:p.Arg721His	Somatic		Capture	Illumina HiSeq	Phase_I	96344515	NM_018063		Missense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438286	0.96168	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.98	5.98	0.97165	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.998;1.0	D	0.99232	1.0882	10	0.87932	D	0	-8.2053	19.4463	0.94849	0.0:0.0:1.0:0.0	.	705;692;591;623;721	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	H	721;623;767;158	ENSP00000239027:R721H;ENSP00000377609:R623H;ENSP00000360383:R767H;ENSP00000360378:R158H	ENSP00000239027:R721H	R	+	2	0	HELLS	96344515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGC		0.358	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
PDLIM1	9124	broad.mit.edu	37	10	97007063	97007063	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97007063C>A	ENST00000329399.6	-	5	702	c.594G>T	c.(592-594)aaG>aaT	p.K198N	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	198					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K198N(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCTGAAGCATCTTGTAAACTT	0.428																																					p.K198N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G594T	10						.						110.0	102.0	105.0					10																	97007063		2203	4300	6503	96997053	SO:0001583	missense	9124	exon5			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.594G>T	10.37:g.97007063C>A	ENSP00000360305:p.Lys198Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96997053	NM_020992	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623799	0.87460	.	.	ENSG00000107438	ENST00000329399	T	0.44482	0.92	5.73	5.73	0.89815	.	0.043963	0.85682	D	0.000000	T	0.70649	0.3248	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75345	-0.3350	10	0.87932	D	0	-22.1306	18.8873	0.92383	0.0:1.0:0.0:0.0	.	198	O00151	PDLI1_HUMAN	N	198	ENSP00000360305:K198N	ENSP00000360305:K198N	K	-	3	2	PDLIM1	96997053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.109000	0.50345	2.708000	0.92522	0.655000	0.94253	AAG		0.428	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1		
PDLIM1	9124	broad.mit.edu	37	10	97031496	97031496	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97031496C>A	ENST00000329399.6	-	2	250	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	48	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D48Y(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GTGATTACATCTCCAATACAT	0.423																																					p.D48Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142T	10						.						142.0	132.0	135.0					10																	97031496		2203	4300	6503	97021486	SO:0001583	missense	9124	exon2			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.142G>T	10.37:g.97031496C>A	ENSP00000360305:p.Asp48Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	97021486	NM_020992	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093532	0.94149	.	.	ENSG00000107438	ENST00000329399	T	0.74209	-0.82	6.07	6.07	0.98685	PDZ/DHR/GLGF (4);	0.094954	0.85682	D	0.000000	D	0.90521	0.7030	H	0.98426	4.23	0.80722	D	1	P	0.52316	0.952	P	0.56088	0.791	D	0.93434	0.6788	10	0.87932	D	0	-26.475	18.1377	0.89624	0.0:1.0:0.0:0.0	.	48	O00151	PDLI1_HUMAN	Y	48	ENSP00000360305:D48Y	ENSP00000360305:D48Y	D	-	1	0	PDLIM1	97021486	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.375000	0.79646	2.890000	0.99128	0.650000	0.86243	GAT		0.423	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1		
SORBS1	10580	broad.mit.edu	37	10	97135757	97135757	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97135757G>T	ENST00000361941.3	-	17	1736	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	SORBS1_ENST00000371245.3_Missense_Mutation_p.F455L|SORBS1_ENST00000607232.1_Missense_Mutation_p.F359L|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.F438L|SORBS1_ENST00000371227.4_Missense_Mutation_p.F524L|SORBS1_ENST00000371247.2_Missense_Mutation_p.F570L|SORBS1_ENST00000277982.5_Missense_Mutation_p.F592L|SORBS1_ENST00000354106.3_Missense_Mutation_p.F540L|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.F540L|SORBS1_ENST00000371246.2_Missense_Mutation_p.F592L|SORBS1_ENST00000371239.1_Missense_Mutation_p.F369L|SORBS1_ENST00000353505.5_Missense_Mutation_p.F455L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.F455L(2)|p.F570L(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTCCGAAAAGAATTTATACC	0.373																																					p.F592L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1776A	10						.						81.0	84.0	83.0					10																	97135757		2203	4300	6503	97125747	SO:0001583	missense	10580	exon17			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1710C>A	10.37:g.97135757G>T	ENSP00000355136:p.Phe570Leu	Somatic		Capture	Illumina HiSeq	Phase_I	97125747	NM_001034955		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496968	0.96355	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.66	5.66	0.87406	.	0.000000	0.38005	N	0.001855	T	0.53400	0.1794	N	0.25485	0.75	0.47374	D	0.999407	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996;0.989	D;D;D;D;P;P	0.80764	0.957;0.994;0.986;0.967;0.881;0.89	T	0.46857	-0.9161	10	0.32370	T	0.25	-15.3233	19.7499	0.96263	0.0:0.0:1.0:0.0	.	524;455;570;592;438;540	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	L	455;570;524;592;540;455;438;570;592;540;369	ENSP00000360291:F455L;ENSP00000360293:F570L;ENSP00000360271:F524L;ENSP00000360292:F592L;ENSP00000377521:F540L;ENSP00000343998:F455L;ENSP00000277985:F438L;ENSP00000355136:F570L;ENSP00000277982:F592L;ENSP00000277984:F540L;ENSP00000360283:F369L	ENSP00000277982:F592L	F	-	3	2	SORBS1	97125747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.672000	0.90937	0.655000	0.94253	TTC		0.373	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
SORBS1	10580	broad.mit.edu	37	10	97144028	97144028	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97144028G>T	ENST00000361941.3	-	14	1401	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	SORBS1_ENST00000371245.3_Missense_Mutation_p.L344M|SORBS1_ENST00000607232.1_Missense_Mutation_p.L248M|SORBS1_ENST00000371249.2_Missense_Mutation_p.L381M|SORBS1_ENST00000371241.1_Missense_Mutation_p.L249M|SORBS1_ENST00000347291.4_Missense_Mutation_p.L327M|SORBS1_ENST00000371227.4_Missense_Mutation_p.L413M|SORBS1_ENST00000371247.2_Missense_Mutation_p.L459M|SORBS1_ENST00000277982.5_Missense_Mutation_p.L481M|SORBS1_ENST00000354106.3_Missense_Mutation_p.L429M|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.L290M|SORBS1_ENST00000393949.1_Missense_Mutation_p.L429M|SORBS1_ENST00000371246.2_Missense_Mutation_p.L481M|SORBS1_ENST00000371239.1_Missense_Mutation_p.L258M|SORBS1_ENST00000353505.5_Missense_Mutation_p.L344M	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.L344M(1)|p.L459M(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGAGAGTACAGATCTGAATCA	0.423																																					p.L249M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C745A	10						.						102.0	94.0	97.0					10																	97144028		2203	4300	6503	97134018	SO:0001583	missense	10580	exon9			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1375C>A	10.37:g.97144028G>T	ENSP00000355136:p.Leu459Met	Somatic		Capture	Illumina HiSeq	Phase_I	97134018	NM_001034957		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058387	0.36277	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;3.1;1.5;2.53;2.93;1.5;2.82;3.1;2.53;1.5;2.93;1.5	6.07	5.16	0.70880	Sorbin-like (1);	0.000000	0.33346	N	0.005006	T	0.34948	0.0915	L	0.29908	0.895	0.22880	N	0.998611	D;B;P;P;P;B;P;D;P;D;P;P;P	0.63046	0.992;0.437;0.951;0.565;0.842;0.338;0.913;0.973;0.919;0.979;0.942;0.913;0.71	P;B;P;P;P;P;P;P;P;P;P;P;P	0.62382	0.901;0.278;0.894;0.521;0.672;0.521;0.73;0.8;0.786;0.865;0.73;0.805;0.472	T	0.14254	-1.0479	10	0.32370	T	0.25	-3.9214	7.2121	0.25939	0.1069:0.1693:0.7238:0.0	.	611;258;413;381;290;249;258;344;459;481;327;429;37	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	M	344;290;381;459;413;481;429;344;327;459;481;249;429;258	ENSP00000360291:L344M;ENSP00000302556:L290M;ENSP00000360295:L381M;ENSP00000360293:L459M;ENSP00000360271:L413M;ENSP00000360292:L481M;ENSP00000377521:L429M;ENSP00000343998:L344M;ENSP00000277985:L327M;ENSP00000355136:L459M;ENSP00000277982:L481M;ENSP00000360285:L249M;ENSP00000277984:L429M;ENSP00000360283:L258M	ENSP00000277982:L481M	L	-	1	2	SORBS1	97134018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.932000	0.48940	1.552000	0.49463	0.655000	0.94253	CTG		0.423	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
ALDH18A1	5832	broad.mit.edu	37	10	97366560	97366560	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97366560G>T	ENST00000371224.2	-	18	2484	c.2347C>A	c.(2347-2349)Ctt>Att	p.L783I	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.L781I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	783	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.L783I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TTCTCATGAAGATATTTTAAA	0.458																																					p.L781I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2341A	10						.						147.0	157.0	154.0					10																	97366560		2203	4300	6503	97356550	SO:0001583	missense	5832	exon18			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2347C>A	10.37:g.97366560G>T	ENSP00000360268:p.Leu783Ile	Somatic		Capture	Illumina HiSeq	Phase_I	97356550	NM_001017423	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483643	0.44147	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	D;D	0.84146	-1.81;-1.81	5.28	4.34	0.51931	.	0.055731	0.64402	D	0.000001	T	0.78278	0.4258	L	0.39020	1.185	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.19148	0.01;0.024	T	0.72937	-0.4140	10	0.30854	T	0.27	-11.9294	13.0437	0.58915	0.0:0.0:0.8388:0.1612	.	783;781	P54886;P54886-2	P5CS_HUMAN;.	I	783;781	ENSP00000360268:L783I;ENSP00000360265:L781I	ENSP00000360265:L781I	L	-	1	0	ALDH18A1	97356550	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	6.145000	0.71769	2.479000	0.83701	0.561000	0.74099	CTT		0.458	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
ZNF518A	9849	broad.mit.edu	37	10	97918310	97918310	+	RNA	SNP	C	C	T	rs61731062	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97918310C>T	ENST00000534948.1	+	0	3088							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)	p.A744V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAGAGTGTGCGACTGAAAAA	0.348													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20322	0.0		0.0	False		,,,				2504	0.0				p.A744V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2231T	10						.	C	VAL/ALA	7,3675		0,7,1834	38.0	39.0	39.0		2231	2.8	0.0	10	dbSNP_129	39	1,8163		0,1,4081	no	missense	ZNF518A	NM_014803.3	64	0,8,5915	TT,TC,CC		0.0122,0.1901,0.0675	benign	744/1484	97918310	8,11838	1841	4082	5923	97908300			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918310C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97908300	NM_014803	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.348	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
ZNF518A	9849	broad.mit.edu	37	10	97919076	97919076	+	RNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:97919076A>G	ENST00000534948.1	+	0	3854							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)	p.P999P(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGGGTGCCCCAGCTCGTGGAA	0.433																																					p.P999P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2997G	10						.						62.0	61.0	61.0					10																	97919076		1852	4097	5949	97909066			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919076A>G		Somatic		Capture	Illumina HiSeq	Phase_I	97909066	NM_014803	A0PJI5|O15044|Q32MP4	Silent	SNP	ENST00000534948.1	37																																																																																					0.433	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
DNTT	1791	broad.mit.edu	37	10	98088584	98088584	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98088584G>T	ENST00000371174.2	+	8	1212	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N	DNTT_ENST00000419175.1_Missense_Mutation_p.K370N			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	370	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.K370N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TATGGGAAAAGAAGGTGAGAA	0.353																																					p.K370N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1110T	10						.						93.0	89.0	90.0					10																	98088584		2203	4300	6503	98078574	SO:0001583	missense	1791	exon8			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1110G>T	10.37:g.98088584G>T	ENSP00000360216:p.Lys370Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98078574	NM_004088	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129385	0.21041	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.43688	0.94;0.94	6.16	-2.54	0.06307	DNA-directed DNA polymerase X (1);Nucleotidyl transferase domain (1);	0.406627	0.28688	N	0.014469	T	0.21674	0.0522	L	0.31578	0.945	0.25142	N	0.990495	B;B	0.10296	0.002;0.003	B;B	0.13407	0.005;0.009	T	0.08371	-1.0725	10	0.25751	T	0.34	.	4.0947	0.09985	0.4273:0.0:0.2018:0.3708	.	370;370	P04053-2;P04053	.;TDT_HUMAN	N	370	ENSP00000401169:K370N;ENSP00000360216:K370N	ENSP00000360216:K370N	K	+	3	2	DNTT	98078574	0.992000	0.36948	0.789000	0.31954	0.609000	0.37215	0.127000	0.15790	-0.289000	0.09038	-0.188000	0.12872	AAG		0.353	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
TM9SF3	56889	broad.mit.edu	37	10	98311094	98311094	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98311094C>A	ENST00000371142.4	-	7	1083	c.867G>T	c.(865-867)ctG>ctT	p.L289L	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	289						integral component of membrane (GO:0016021)		p.L289L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AGGAAAATATCAGTGGGTGAC	0.358																																					p.L289L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G867T	10						.						177.0	171.0	173.0					10																	98311094		2203	4300	6503	98301084	SO:0001819	synonymous_variant	56889	exon7			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.867G>T	10.37:g.98311094C>A		Somatic		Capture	Illumina HiSeq	Phase_I	98301084	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																				0.358	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
TM9SF3	56889	broad.mit.edu	37	10	98312726	98312726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98312726C>A	ENST00000371142.4	-	6	967	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	TM9SF3_ENST00000490192.1_5'Flank	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	251						integral component of membrane (GO:0016021)		p.D251Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CGAGCATAATCTTTTCTTAAT	0.294																																					p.D251Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751T	10						.						110.0	105.0	106.0					10																	98312726		2203	4299	6502	98302716	SO:0001583	missense	56889	exon6			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.751G>T	10.37:g.98312726C>A	ENSP00000360184:p.Asp251Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	98302716	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669058	0.88348	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.62232	0.04;0.04	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93017	0.6437	10	0.87932	D	0	-16.9093	17.9926	0.89172	0.0:1.0:0.0:0.0	.	183;251	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	Y	251;207	ENSP00000360184:D251Y;ENSP00000401152:D207Y	ENSP00000360184:D251Y	D	-	1	0	TM9SF3	98302716	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.783000	0.85696	2.487000	0.83934	0.585000	0.79938	GAT		0.294	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
TM9SF3	56889	broad.mit.edu	37	10	98336512	98336512	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98336512C>A	ENST00000371142.4	-	2	393	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	59						integral component of membrane (GO:0016021)		p.K59N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTGAAAAGTACTTATATGTTT	0.368																																					p.K59N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G177T	10						.						128.0	124.0	125.0					10																	98336512		2203	4299	6502	98326502	SO:0001583	missense	56889	exon2			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.177G>T	10.37:g.98336512C>A	ENSP00000360184:p.Lys59Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98326502	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805399	0.16467	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.42900	0.96;0.96	5.73	-5.0	0.03001	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.01267	-0.92	0.49798	D	0.999826	B	0.06786	0.001	B	0.08055	0.003	T	0.14699	-1.0463	10	0.18710	T	0.47	-12.4306	15.5834	0.76462	0.0:0.1551:0.0:0.8449	.	59	Q9HD45	TM9S3_HUMAN	N	59;15	ENSP00000360184:K59N;ENSP00000401152:K15N	ENSP00000360184:K59N	K	-	3	2	TM9SF3	98326502	0.904000	0.30761	0.668000	0.29813	0.987000	0.75469	-0.020000	0.12525	-0.820000	0.04318	-0.140000	0.14226	AAG		0.368	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
PIK3AP1	118788	broad.mit.edu	37	10	98355385	98355385	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98355385C>T	ENST00000339364.5	-	17	2486	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PIK3AP1_ENST00000371109.3_Silent_p.P388P|PIK3AP1_ENST00000371110.2_Silent_p.P611P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	789	Pro-rich.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.P789P(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCCCTGGTCGGAGGCCTAA	0.428																																					p.P789P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G2367A	10						.						111.0	110.0	110.0					10																	98355385		2203	4300	6503	98345375	SO:0001819	synonymous_variant	118788	exon17			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2367G>A	10.37:g.98355385C>T		Somatic		Capture	Illumina HiSeq	Phase_I	98345375	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.428	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
PIK3AP1	118788	broad.mit.edu	37	10	98469553	98469553	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98469553G>A	ENST00000339364.5	-	2	320	c.201C>T	c.(199-201)gtC>gtT	p.V67V		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	67	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.V67V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCAGCACCACGACACAGCGGG	0.652																																					p.V67V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	10						.						52.0	51.0	51.0					10																	98469553		2203	4300	6503	98459543	SO:0001819	synonymous_variant	118788	exon2			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.201C>T	10.37:g.98469553G>A		Somatic		Capture	Illumina HiSeq	Phase_I	98459543	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.652	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
SLIT1	6585	broad.mit.edu	37	10	98803153	98803153	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:98803153G>A	ENST00000266058.4	-	19	2216	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	SLIT1_ENST00000371070.4_Silent_p.F657F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	657					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.F657F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAGGGTGTCGAAGGCTCCTG	0.647																																					p.F657F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1971T	10						.						203.0	204.0	204.0					10																	98803153		2203	4300	6503	98793143	SO:0001819	synonymous_variant	6585	exon19			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1971C>T	10.37:g.98803153G>A		Somatic		Capture	Illumina HiSeq	Phase_I	98793143	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																				0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
ARHGAP19	84986	broad.mit.edu	37	10	99019334	99019334	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:99019334T>C	ENST00000358531.4	-	5	693	c.665A>G	c.(664-666)gAc>gGc	p.D222G	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.D222G|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.D213G|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.D222G|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.D213G|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.D222G	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	222	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.D41G(1)|p.D222G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AATTTGCCGGTCCTTGTCTGG	0.413																																					p.D222G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A665G	10						.						323.0	299.0	308.0					10																	99019334		2203	4300	6503	99009324	SO:0001583	missense	84986	exon5			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.665A>G	10.37:g.99019334T>C	ENSP00000351333:p.Asp222Gly	Somatic		Capture	Illumina HiSeq	Phase_I	99009324	NM_032900	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033625	0.54896	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	5.46	5.46	0.80206	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061031	0.64402	U	0.000005	T	0.20861	0.0502	L	0.39633	1.23	0.36770	D	0.883762	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.11329	0.001;0.002;0.006	T	0.06588	-1.0818	10	0.49607	T	0.09	-1.4262	15.509	0.75766	0.0:0.0:0.0:1.0	.	222;222;213	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	G	222;222;213;222;213;41;222	ENSP00000414774:D222G;ENSP00000324468:D222G;ENSP00000347526:D213G;ENSP00000351333:D222G;ENSP00000360066:D213G;ENSP00000351058:D222G	ENSP00000324468:D222G	D	-	2	0	ARHGAP19	99009324	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	4.955000	0.63638	2.068000	0.61886	0.533000	0.62120	GAC		0.413	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	
PGAM1	5223	broad.mit.edu	37	10	99192235	99192235	+	Missense_Mutation	SNP	G	G	A	rs371468578		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:99192235G>A	ENST00000334828.5	+	4	867	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	240					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)	p.R240H(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GAGACGGTGCGCAAAGCCATG	0.577																																					p.R240H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G719A	10						.	G	HIS/ARG	1,4397		0,1,2198	47.0	49.0	48.0		719	5.4	1.0	10		48	0,8560		0,0,4280	no	missense	PGAM1	NM_002629.2	29	0,1,6478	AA,AG,GG		0.0,0.0227,0.0077	benign	240/255	99192235	1,12957	2199	4280	6479	99182225	SO:0001583	missense	5223	exon4			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.719G>A	10.37:g.99192235G>A	ENSP00000359991:p.Arg240His	Somatic		Capture	Illumina HiSeq	Phase_I	99182225	NM_002629	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921032	0.52653	2.27E-4	0.0	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80304	-1.36	5.39	5.39	0.77823	.	0.139807	0.47093	D	0.000247	T	0.80944	0.4721	M	0.67625	2.065	0.47276	D	0.999378	B;B	0.18013	0.025;0.004	B;B	0.08055	0.003;0.003	T	0.77702	-0.2489	10	0.72032	D	0.01	-27.5229	19.4866	0.95032	0.0:0.0:1.0:0.0	.	225;240	B4DKL5;P18669	.;PGAM1_HUMAN	H	240;130	ENSP00000359991:R240H	ENSP00000359991:R240H	R	+	2	0	PGAM1	99182225	0.542000	0.26426	0.998000	0.56505	0.958000	0.62258	2.942000	0.49018	2.683000	0.91414	0.561000	0.74099	CGC		0.577	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629	
CRTAC1	55118	broad.mit.edu	37	10	99661369	99661369	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:99661369G>A	ENST00000370597.3	-	8	1379	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P342S|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P342S	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	342						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.P342S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACAGGGGAGGGCATGGAGAAC	0.607																																					p.P342S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1024T	10						.						117.0	101.0	106.0					10																	99661369		2203	4300	6503	99651359	SO:0001583	missense	55118	exon8			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1024C>T	10.37:g.99661369G>A	ENSP00000359629:p.Pro342Ser	Somatic		Capture	Illumina HiSeq	Phase_I	99651359	NM_018058	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763385	0.89932	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.72894	2.215	0.80722	D	1	P;D;D	0.56287	0.919;0.962;0.975	P;P;P	0.55260	0.548;0.682;0.772	T	0.29912	-0.9996	10	0.42905	T	0.14	-19.2373	16.9023	0.86117	0.0:0.0:1.0:0.0	.	342;342;238	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	S	238;342;342;334;342	ENSP00000408445:P238S;ENSP00000359629:P342S;ENSP00000298819:P342S;ENSP00000310810:P334S;ENSP00000359623:P342S	ENSP00000298819:P342S	P	-	1	0	CRTAC1	99651359	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.289000	0.65656	2.208000	0.71279	0.462000	0.41574	CCC		0.607	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
PPRC1	23082	broad.mit.edu	37	10	103902864	103902864	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:103902864A>G	ENST00000278070.2	+	6	3589				PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGGTGAGGGAACATGGGTAGT	0.502																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						163.0	148.0	153.0					10																	103902864		2203	4300	6503	103892854	SO:0001627	intron_variant	23082	.			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3550+9A>G	10.37:g.103902864A>G		Somatic		Capture	Illumina HiSeq	Phase_I	103892854	.	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Intron	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.502	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
INA	9118	broad.mit.edu	37	10	105048429	105048429	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:105048429C>T	ENST00000369849.4	+	0	1552					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha						cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAATATAATTCCATTGCTTTG	0.313																																					.												.	.	0			.	10						.						31.0	32.0	31.0					10																	105048429		2203	4300	6503	105038419	SO:0001624	3_prime_UTR_variant	9118	.			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.*3C>T	10.37:g.105048429C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105038419	.	B1AQK0|Q9BRC5	3'UTR	SNP	ENST00000369849.4	37	CCDS7545.1																																																																																				0.313	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727	
SORCS1	114815	broad.mit.edu	37	10	108589324	108589324	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:108589324T>G	ENST00000263054.6	-	3	734				SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.?(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAATATACATTTCTTACCTT	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						140.0	133.0	135.0					10																	108589324		2203	4300	6503	108579314	SO:0001627	intron_variant	114815	.			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.726+7A>C	10.37:g.108589324T>G		Somatic		Capture	Illumina HiSeq	Phase_I	108579314	.	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Intron	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
HABP2	3026	broad.mit.edu	37	10	115349557	115349557	+	IGR	SNP	C	C	A	rs112213268		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:115349557C>A	ENST00000351270.3	+	0	3009				NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000369358.4_Splice_Site|NRAP_ENST00000369360.3_Splice_Site	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TATACTTGACCTTGAGGGTAA	0.498																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						65.0	63.0	64.0					10																	115349557		2203	4300	6503	115339547	SO:0001628	intergenic_variant	4892	.				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115349557C>A		Somatic		Capture	Illumina HiSeq	Phase_I	115339547	.	A8K467|B7Z8U5|F5H5M6|O00663	Splice_Site	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555197	0.86231	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115339547	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	.		0.498	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
PNLIPRP2	5408	broad.mit.edu	37	10	118389582	118389582	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118389582C>A	ENST00000298771.7	+	0	722				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.?(1)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGGTGAGTTCCTCAATCCCAT	0.502																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						71.0	73.0	72.0					10																	118389582		2018	4198	6216	118379572			5408	.			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118389582C>A		Somatic		Capture	Illumina HiSeq	Phase_I	118379572	.	A8K627|Q6IB55	Intron	SNP	ENST00000298771.7	37																																																																																					0.502	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
KCNK18	338567	broad.mit.edu	37	10	118960660	118960660	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:118960660C>A	ENST00000334549.1	+	2	223					NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18						cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTGGTCATGTCTTTCTCCAGT	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						163.0	168.0	166.0					10																	118960660		2203	4300	6503	118950650	SO:0001627	intron_variant	338567	.			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.224-10C>A	10.37:g.118960660C>A		Somatic		Capture	Illumina HiSeq	Phase_I	118950650	.	Q5SQQ8	Intron	SNP	ENST00000334549.1	37	CCDS7598.1																																																																																				0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
BUB3	9184	broad.mit.edu	37	10	124914426	124914426	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:124914426T>C	ENST00000368865.4	+	2	209				BUB3_ENST00000538238.1_Intron|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TGGGCGCCTGTTCTGCAGATG	0.662																																					.	GBM(161;1111 1985 17553 20049 26037)											.	.	1	Unknown(1)	large_intestine(1)	.	10						.						53.0	52.0	52.0					10																	124914426		2203	4300	6503	124904416	SO:0001627	intron_variant	9184	.			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.0-8T>C	10.37:g.124914426T>C		Somatic		Capture	Illumina HiSeq	Phase_I	124904416	.	A6NJ42|B2R6E7|D3DRE9|O43685	Intron	SNP	ENST00000368865.4	37	CCDS7635.1																																																																																				0.662	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1		
FAM175B	23172	broad.mit.edu	37	10	126495500	126495500	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:126495500T>G	ENST00000298492.5	+	2	208					NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B						cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.?(1)		NS(1)	1						GGTAAGTAAATTTCTCAATGA	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						83.0	84.0	84.0					10																	126495500		1832	4082	5914	126485490	SO:0001627	intron_variant	23172	.			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.163+10T>G	10.37:g.126495500T>G		Somatic		Capture	Illumina HiSeq	Phase_I	126485490	.	B4DKR2|Q96H11	Intron	SNP	ENST00000298492.5	37	CCDS31308.2																																																																																				0.313	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182	
TCERG1L	256536	broad.mit.edu	37	10	133106655	133106655	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:133106655C>A	ENST00000368642.4	-	3	575		c.e3-1			NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like									p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TAAAAAAGATCTGTCGAAAAA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						44.0	47.0	46.0					10																	133106655		2203	4300	6503	132996645	SO:0001630	splice_region_variant	256536	.			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.490-1G>T	10.37:g.133106655C>A		Somatic		Capture	Illumina HiSeq	Phase_I	132996645	.	Q5VWI2|Q86XM8	Splice_Site	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006521	0.74932	.	.	ENSG00000176769	ENST00000368642	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7573	0.91837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCERG1L	132996645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.543000	0.67225	2.779000	0.95612	0.591000	0.81541	.		0.403	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	Intron
GPR123	84435	broad.mit.edu	37	10	134898514	134898514	+	5'Flank	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:134898514T>G	ENST00000392607.3	+	0	0				RP13-439H18.4_ENST00000444433.1_RNA|GPR123_ENST00000607359.1_Missense_Mutation_p.S526A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S526A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCTGCATCTCTGGTGAATC	0.537																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	10						.						129.0	124.0	126.0					10																	134898514		1568	3582	5150	134748504	SO:0001631	upstream_gene_variant	84435	.			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304		10.37:g.134898514T>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	134748504	.	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	5'Flank	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	T	3.273	-0.148674	0.06627	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	0.891	0.891	0.19224	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.31024	N	0.717955	B	0.31077	0.307	B	0.26202	0.067	T	0.32798	-0.9893	6	0.87932	D	0	.	4.0674	0.09866	0.0:0.0:0.0:1.0	.	526	Q86SQ6-1	.	A	526	.	ENSP00000357566:S526A	S	+	1	0	GPR123	134748504	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.306000	0.19279	0.667000	0.31107	0.254000	0.18369	TCT		0.537	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2		
CYP2E1	1571	broad.mit.edu	37	10	135345724	135345724	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:135345724A>C	ENST00000463117.2	+	6	856	c.584A>C	c.(583-585)aAg>aCg	p.K195T	CYP2E1_ENST00000252945.3_Missense_Mutation_p.K195T|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	195					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.K195T(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AATGATGAGAAGTTTCTAAGG	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.K195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584C	10						.						133.0	121.0	125.0					10																	135345724		2203	4300	6503	135195714	SO:0001583	missense	1571	exon4	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.584A>C	10.37:g.135345724A>C	ENSP00000440689:p.Lys195Thr	Somatic		Capture	Illumina HiSeq	Phase_I	135195714	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	A	1.504	-0.551281	0.03996	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.59	-6.63	0.01807	.	0.963032	0.08724	N	0.903060	T	0.36936	0.0985	N	0.16016	0.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36529	-0.9744	10	0.07482	T	0.82	.	6.4679	0.21991	0.2358:0.456:0.0:0.3082	.	195	P05181	CP2E1_HUMAN	T	195;195;108;58	ENSP00000440689:K195T;ENSP00000252945:K195T;ENSP00000412754:K108T;ENSP00000397299:K58T	ENSP00000252945:K195T	K	+	2	0	CYP2E1	135195714	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.988000	0.03739	-1.332000	0.02249	-0.336000	0.08194	AAG		0.502	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
ADARB2	105	broad.mit.edu	37	10	1421359	1421359	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:1421359G>A	ENST00000381312.1	-	2	426					NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACTTTATCTGGAAAGAAAAGA	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						152.0	145.0	148.0					10																	1421359		2203	4300	6503	1411359	SO:0001627	intron_variant	105	.			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-4C>T	10.37:g.1421359G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1411359	.	B2RPJ5|Q5VUT6|Q5VW42	Intron	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																				0.428	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
TUBAL3	79861	broad.mit.edu	37	10	5442798	5442798	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5442798T>G	ENST00000380419.3	-	2	285				TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3						microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AATGGAACATTTATTGTACCT	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						111.0	104.0	106.0					10																	5442798		2203	4300	6503	5432798	SO:0001627	intron_variant	79861	.			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.247+8A>C	10.37:g.5442798T>G		Somatic		Capture	Illumina HiSeq	Phase_I	5432798	.	B4DKL2|Q4QQJ5|Q9H6Z0	Intron	SNP	ENST00000380419.3	37	CCDS7066.2																																																																																				0.423	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803	
FBXO18	84893	broad.mit.edu	37	10	5966266	5966266	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:5966266C>A	ENST00000362091.4	+	17	2513				FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000379999.5_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.?(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTGTATATTCTTCTTAGAAA	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						42.0	44.0	43.0					10																	5966266		2203	4300	6503	6006272	SO:0001627	intron_variant	84893	.			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2399-8C>A	10.37:g.5966266C>A		Somatic		Capture	Illumina HiSeq	Phase_I	6006272	.	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Intron	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																				0.453	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
SFMBT2	57713	broad.mit.edu	37	10	7242375	7242375	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:7242375C>T	ENST00000361972.4	-	14	1649		c.e14+1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.?(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGACTGATTACCTGTGGTGTC	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						109.0	109.0	109.0					10																	7242375		2203	4300	6503	7282381	SO:0001630	splice_region_variant	57713	.			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1558+1G>A	10.37:g.7242375C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7282381	.	A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088673	0.76756	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.259	0.90028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFMBT2	7282381	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.554000	0.60760	2.736000	0.93811	0.655000	0.94253	.		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Intron
SFMBT2	57713	broad.mit.edu	37	10	7262368	7262368	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:7262368C>T	ENST00000361972.4	-	11	1421				SFMBT2_ENST00000397167.1_Intron	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.?(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCAGCGAGTACGTACCTTCCA	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						229.0	223.0	225.0					10																	7262368		2203	4300	6503	7302374	SO:0001627	intron_variant	57713	.			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1330+4G>A	10.37:g.7262368C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7302374	.	A7MD09|Q9HCF5	Intron	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.547	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH2	3698	broad.mit.edu	37	10	7762932	7762932	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:7762932C>A	ENST00000358415.4	+	7	904				ITIH2_ENST00000379587.4_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAAGGTACCCTGAGCCCTGT	0.498																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						122.0	101.0	108.0					10																	7762932		2203	4300	6503	7802938	SO:0001627	intron_variant	3698	.			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.738+6C>A	10.37:g.7762932C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7802938	.	Q14659|Q15484|Q5T986	Intron	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.498	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
PRPF18	8559	broad.mit.edu	37	10	13672344	13672344	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13672344C>A	ENST00000378572.3	+	0	1193				RP11-295P9.3_ENST00000596044.1_Intron	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						ACTGTGAGATCTGTGTATGGT	0.403																																					.												.	.	0			.	10						.						169.0	148.0	155.0					10																	13672344		2203	4300	6503	13712350	SO:0001624	3_prime_UTR_variant	8559	.			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.*4C>A	10.37:g.13672344C>A		Somatic		Capture	Illumina HiSeq	Phase_I	13712350	.	Q5T9P9|Q9BUI9	3'UTR	SNP	ENST00000378572.3	37	CCDS7100.1																																																																																				0.403	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		
FRMD4A	55691	broad.mit.edu	37	10	13749125	13749125	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:13749125A>G	ENST00000357447.2	-	13	1128				FRMD4A_ENST00000342409.2_Intron|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000492155.1_5'UTR|AL157392.1_ENST00000410303.1_RNA|FRMD4A_ENST00000358621.4_Intron	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A						establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGACAGAAAACAGTGTAGTT	0.458																																					.												.	.	0			.	10						.						43.0	44.0	43.0					10																	13749125		2203	4300	6503	13789131	SO:0001627	intron_variant	55691	.			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.760-12T>C	10.37:g.13749125A>G		Somatic		Capture	Illumina HiSeq	Phase_I	13789131	.	A7E2Y3|Q5T377	Intron	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																				0.458	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
TRDMT1	1787	broad.mit.edu	37	10	17204156	17204156	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:17204156A>C	ENST00000377799.3	-	4	371				TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000377766.5_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1						C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CAGGAACCTAAGTTTTTACCT	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						130.0	141.0	137.0					10																	17204156		2203	4300	6503	17244162	SO:0001627	intron_variant	1787	.			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.323+8T>G	10.37:g.17204156A>C		Somatic		Capture	Illumina HiSeq	Phase_I	17244162	.	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Intron	SNP	ENST00000377799.3	37	CCDS7114.1																																																																																				0.388	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
PLXDC2	84898	broad.mit.edu	37	10	20335790	20335790	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:20335790T>A	ENST00000377252.4	+	3	1165				PLXDC2_ENST00000377238.2_Intron|PLXDC2_ENST00000377242.3_Intron	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATTATCTATTATTGCAGGAG	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						81.0	90.0	87.0					10																	20335790		2203	4299	6502	20375796	SO:0001627	intron_variant	84898	.			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.325-8T>A	10.37:g.20335790T>A		Somatic		Capture	Illumina HiSeq	Phase_I	20375796	.	Q96E59|Q96PD9|Q96SU9	Intron	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.323	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
ARMC3	219681	broad.mit.edu	37	10	23220915	23220915	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:23220915C>A	ENST00000298032.5	+	2	83				ARMC3_ENST00000409983.3_Intron|ARMC3_ENST00000409049.3_Intron|ARMC3_ENST00000376528.4_Intron	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3							extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATATTGCATCTTTTTCCAGG	0.358																																					.												.	.	0			.	10						.						81.0	83.0	82.0					10																	23220915		2203	4299	6502	23260921	SO:0001627	intron_variant	219681	.			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.-1-10C>A	10.37:g.23220915C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23260921	.	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Intron	SNP	ENST00000298032.5	37	CCDS7142.1																																																																																				0.358	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ANKRD26	22852	broad.mit.edu	37	10	27335274	27335274	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:27335274G>T	ENST00000376087.4	-	18	2151				ANKRD26_ENST00000436985.2_Intron|ANKRD26_ENST00000376070.3_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.?(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AGAAATCATAGATTTTACCTT	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						67.0	63.0	65.0					10																	27335274		1840	4085	5925	27375280	SO:0001627	intron_variant	22852	.			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1985+7C>A	10.37:g.27335274G>T		Somatic		Capture	Illumina HiSeq	Phase_I	27375280	.	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Intron	SNP	ENST00000376087.4	37	CCDS41499.1																																																																																				0.373	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
CCDC7	79741	broad.mit.edu	37	10	33137652	33137652	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:33137652G>T	ENST00000375030.2	+	20	2119				C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Intron			Q9H943	CJ068_HUMAN										p.?(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAAAGGTAAAGAATTATGTAT	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						57.0	58.0	58.0					10																	33137652		2201	4287	6488	33177658	SO:0001627	intron_variant	79741	.																														ENST00000375030.2:c.1501+6G>T	10.37:g.33137652G>T		Somatic		Capture	Illumina HiSeq	Phase_I	33177658	.	B0QZ71|Q08AN7|Q8N7T7	Intron	SNP	ENST00000375030.2	37																																																																																					0.294	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		
FAM21A	387680	broad.mit.edu	37	10	47945945	47945945	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:47945945G>T	ENST00000358474.5	+	27	3444		c.e27+1			NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN							retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TATTTTTGAGGTAATAGGACT	0.363																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	10						.						3.0	3.0	3.0					10																	47945945		300	1651	1951	47465951	SO:0001630	splice_region_variant	55747	.																														ENST00000358474.5:c.3444+1G>T	10.37:g.47945945G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47465951	.		Splice_Site	SNP	ENST00000358474.5	37	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707949	0.15239	.	.	ENSG00000152726	ENST00000358474;ENST00000543972;ENST00000355876	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.805	0.34932	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM21B	47465951	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	7.700000	0.84556	1.374000	0.46228	0.377000	0.23210	.		0.363	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2		Intron
RBP3	5949	broad.mit.edu	37	10	48386038	48386038	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:48386038C>A	ENST00000224600.4	-	2	3168		c.e2-1		AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial						lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.?(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGAAGGGATCTGTAAGAGTT	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						78.0	82.0	81.0					10																	48386038		2203	4300	6503	48006044	SO:0001630	splice_region_variant	5949	.			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3055-1G>T	10.37:g.48386038C>A		Somatic		Capture	Illumina HiSeq	Phase_I	48006044	.	Q0QD34|Q5VSR0|Q8IXN0	Splice_Site	SNP	ENST00000224600.4	37	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005954	0.74932	.	.	ENSG00000107618	ENST00000224600	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1735	0.89754	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBP3	48006044	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.356000	0.79445	2.611000	0.88343	0.561000	0.74099	.		0.488	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	Intron
PCDH15	65217	broad.mit.edu	37	10	55583182	55583182	+	Intron	SNP	G	G	T	rs368423674		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:55583182G>T	ENST00000320301.6	-	33	4762				PCDH15_ENST00000395430.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000463095.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.?(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATGAGAAAGATGTTTTTAT	0.328										HNSCC(58;0.16)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.	G	,,,,,,,,,,,	0,3136		0,0,1568	84.0	76.0	78.0		,,,,,,,,,,,	6.0	1.0	10		78	2,7162		0,2,3580	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	0,2,5148	TT,TG,GG		0.0279,0.0,0.0194	,,,,,,,,,,,	,,,,,,,,,,,	55583182	2,10298	1568	3582	5150	55253188	SO:0001627	intron_variant	65217	.			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4368-64C>A	10.37:g.55583182G>T		Somatic		Capture	Illumina HiSeq	Phase_I	55253188	.	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Intron	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
CTNNA3	29119	broad.mit.edu	37	10	68940074	68940074	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:68940074C>T	ENST00000433211.2	-	7	1222		c.e7+1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.?(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGTCACCTACGTTGTTCATG	0.453																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	10						.						105.0	93.0	97.0					10																	68940074		2203	4300	6503	68610080	SO:0001630	splice_region_variant	29119	.			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1047+1G>A	10.37:g.68940074C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68610080	.		Splice_Site	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105075	0.77096	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6302	0.91357	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	68610080	1.000000	0.71417	0.368000	0.25939	0.852000	0.48524	7.814000	0.86154	2.682000	0.91365	0.585000	0.79938	.		0.453	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron
TET1	80312	broad.mit.edu	37	10	70451575	70451575	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:70451575C>A	ENST00000373644.4	+	0	6624					NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1						chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTCTGAAGGCTTTTCTCCCC	0.428																																					.												.	.	0			.	10						.						111.0	113.0	112.0					10																	70451575		2197	4295	6492	70121581	SO:0001624	3_prime_UTR_variant	80312	.			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.*4C>A	10.37:g.70451575C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70121581	.	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	3'UTR	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
DDX50	79009	broad.mit.edu	37	10	70694684	70694684	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:70694684G>T	ENST00000373585.3	+	10	1628				DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGTAAGTAGAGTTAAATTATT	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						97.0	105.0	102.0					10																	70694684		2203	4300	6503	70364690	SO:0001627	intron_variant	79009	.			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1521+10G>T	10.37:g.70694684G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70364690	.	Q5VX37|Q8WV76|Q9BWI8	Intron	SNP	ENST00000373585.3	37	CCDS7283.1																																																																																				0.348	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
CFAP70	118491	broad.mit.edu	37	10	75051203	75051203	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75051203C>T	ENST00000310715.3	-	20	2351		c.e20-1		TTC18_ENST00000493787.1_Splice_Site|TTC18_ENST00000355577.3_Splice_Site|TTC18_ENST00000394865.1_Splice_Site|TTC18_ENST00000401621.2_Splice_Site|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN								extracellular vesicular exosome (GO:0070062)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TAGTACAAACCTGGGGAAAGA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						76.0	74.0	75.0					10																	75051203		2203	4300	6503	74721209	SO:0001630	splice_region_variant	118491	.																														ENST00000310715.3:c.2231-1G>A	10.37:g.75051203C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74721209	.	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835192	0.71373	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8487	0.85988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC18	74721209	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.710000	0.68392	2.647000	0.89833	0.591000	0.81541	.		0.338	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron
CFAP70	118491	broad.mit.edu	37	10	75056788	75056788	+	Intron	SNP	C	C	A	rs372243284		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75056788C>A	ENST00000310715.3	-	16	1975				TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Intron|TTC18_ENST00000394865.1_Intron|TTC18_ENST00000401621.2_Intron|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN								extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCTCTCAGTTCTTGACACTTA	0.383																																					.												.	.	0			.	10						.						173.0	158.0	163.0					10																	75056788		2203	4300	6503	74726794	SO:0001627	intron_variant	118491	.																														ENST00000310715.3:c.1854+11G>T	10.37:g.75056788C>A		Somatic		Capture	Illumina HiSeq	Phase_I	74726794	.	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Intron	SNP	ENST00000310715.3	37	CCDS7324.3																																																																																				0.383	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
USP54	159195	broad.mit.edu	37	10	75289431	75289431	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:75289431A>G	ENST00000339859.4	-	14	2161				USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Intron|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000497106.1_Intron|USP54_ENST00000319786.7_Silent_p.C689C|USP54_ENST00000394811.2_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.?(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAAAGGCCAAACAATACCTGT	0.517											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.	Colon(195;880 2046 8854 25025 38456)											.	.	1	Unknown(1)	large_intestine(1)	.	10						.						117.0	117.0	117.0					10																	75289431		2026	4208	6234	74959437	SO:0001627	intron_variant	159195	.			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2060+6T>C	10.37:g.75289431A>G		Somatic	1159	Capture	Illumina HiSeq	Phase_I	74959437	.	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Intron	SNP	ENST00000339859.4	37	CCDS7329.2																																																																																				0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
KAT6B	23522	broad.mit.edu	37	10	76603243	76603243	+	Intron	SNP	G	G	A	rs35861648|rs377304308		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:76603243G>A	ENST00000287239.4	+	3	1110				KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)									CCAGGTAAGCGAAGGAGTAAT	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.	G		2,4404	4.2+/-10.8	0,2,2201	64.0	63.0	64.0			3.0	0.1	10		64	0,8600		0,0,4300	no	intron	KAT6B	NM_012330.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154			76603243	2,13004	2203	4300	6503	76273249	SO:0001627	intron_variant	23522	.			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.621+7G>A	10.37:g.76603243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	76273249	.	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Intron	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.443	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KAT6B	23522	broad.mit.edu	37	10	76788235	76788235	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:76788235C>A	ENST00000287239.4	+	18	4153				KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCGTTTTTGTCTCTTCACTAA	0.363																																					.												.	.	0			.	10						.						95.0	102.0	99.0					10																	76788235		2203	4300	6503	76458241	SO:0001627	intron_variant	23522	.			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3665-12C>A	10.37:g.76788235C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76458241	.	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Intron	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.363	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KCNMA1	3778	broad.mit.edu	37	10	78708889	78708889	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:78708889C>A	ENST00000286628.8	-	22	2709				KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000406533.3_Intron|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Intron|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000372440.1_Intron|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000372443.1_Intron|RP11-443A13.5_ENST00000608791.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATAATGTGACCTTGGACTTAC	0.423																																					.												.	.	0			.	10						.						140.0	135.0	137.0					10																	78708889		2203	4300	6503	78378895	SO:0001627	intron_variant	3778	.			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2709+10G>T	10.37:g.78708889C>A		Somatic		Capture	Illumina HiSeq	Phase_I	78378895	.	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Intron	SNP	ENST00000286628.8	37																																																																																					0.423	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
ANXA11	311	broad.mit.edu	37	10	81932623	81932623	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:81932623G>T	ENST00000438331.1	-	0	477				ANXA11_ENST00000372231.3_5'UTR|ANXA11_ENST00000265447.4_5'UTR|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_5'UTR|ANXA11_ENST00000360615.4_5'UTR|ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000535999.1_5'UTR	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11						cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTCATGGTTAGATCTGGAAGA	0.612																																					.												.	.	0			.	10						.						87.0	90.0	89.0					10																	81932623		2203	4300	6503	81922603	SO:0001623	5_prime_UTR_variant	311	.			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.-6C>A	10.37:g.81932623G>T		Somatic		Capture	Illumina HiSeq	Phase_I	81922603	.	B4DVE7	5'UTR	SNP	ENST00000438331.1	37	CCDS7364.1																																																																																				0.612	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869	
CDHR1	92211	broad.mit.edu	37	10	85970931	85970931	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:85970931G>A	ENST00000372117.3	+	13	1588				CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTGGGTTGGGCACTGGCCCA	0.567																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						43.0	45.0	44.0					10																	85970931		2203	4300	6503	85960911	SO:0001627	intron_variant	92211	.			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1485+10G>A	10.37:g.85970931G>A		Somatic		Capture	Illumina HiSeq	Phase_I	85960911	.	Q69YZ8|Q8IXY5	Intron	SNP	ENST00000372117.3	37	CCDS7372.1																																																																																				0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
CCSER2	54462	broad.mit.edu	37	10	86273197	86273197	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:86273197T>G	ENST00000224756.8	+	11	2595				CCSER2_ENST00000543283.1_Intron|CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000494144.1_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2						microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.?(1)									TGTTTTTAATTTTAACAGCCT	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						98.0	95.0	96.0					10																	86273197		2203	4300	6503	86263177	SO:0001627	intron_variant	54462	.				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2411-8T>G	10.37:g.86273197T>G		Somatic		Capture	Illumina HiSeq	Phase_I	86263177	.	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Intron	SNP	ENST00000224756.8	37	CCDS31235.1																																																																																				0.408	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
LDB3	11155	broad.mit.edu	37	10	88478608	88478608	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:88478608G>T	ENST00000361373.4	+	11	1999				LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3									p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GAGAAAGGTAGGAACACTTCG	0.582																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	10						.						54.0	47.0	49.0					10																	88478608		2203	4300	6503	88468588	SO:0001627	intron_variant	11155	.			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1978+4G>T	10.37:g.88478608G>T		Somatic		Capture	Illumina HiSeq	Phase_I	88468588	.		Intron	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.582	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
FAM35A	54537	broad.mit.edu	37	10	88930234	88930234	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:88930234G>T	ENST00000298784.1	+	5	1747		c.e5-1		FAM35A_ENST00000298786.4_Splice_Site	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A									p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TTTTCCCTTAGATTCCAGTGT	0.348																																					.	Ovarian(175;703 2004 25460 32514 43441)											.	.	1	Unknown(1)	large_intestine(1)	.	10						.						71.0	64.0	67.0					10																	88930234		2203	4299	6502	88920214	SO:0001630	splice_region_variant	54537	.			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1634-1G>T	10.37:g.88930234G>T		Somatic		Capture	Illumina HiSeq	Phase_I	88920214	.	O95885|Q9H991	Splice_Site	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434466	0.43224	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313;ENST00000342900	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2259	0.65858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM35A	88920214	1.000000	0.71417	0.998000	0.56505	0.667000	0.39255	4.439000	0.59968	2.088000	0.63022	0.537000	0.68136	.		0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	Intron
FAM35A	54537	broad.mit.edu	37	10	88939824	88939824	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:88939824G>A	ENST00000298784.1	+	7	2077				FAM35A_ENST00000298786.4_Intron	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A									p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCTGTTTGTTGTTTGTAGGAG	0.333																																					.	Ovarian(175;703 2004 25460 32514 43441)											.	.	1	Unknown(1)	large_intestine(1)	.	10						.						56.0	57.0	57.0					10																	88939824		2203	4299	6502	88929804	SO:0001627	intron_variant	54537	.			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1964-8G>A	10.37:g.88939824G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88929804	.	O95885|Q9H991	Intron	SNP	ENST00000298784.1	37	CCDS7383.1																																																																																				0.333	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
NUTM2D	728130	broad.mit.edu	37	10	89118191	89118191	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:89118191A>G	ENST00000381697.2	+	1	764				LINC00863_ENST00000439559.2_lincRNA|NUTM2D_ENST00000412718.1_Intron			Q5VT03	NTM2D_HUMAN	NUT family member 2D									p.?(1)									AAATGGAGGTAAGCCTGTAGG	0.522																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						162.0	180.0	175.0					10																	89118191		1944	4158	6102	89108171	SO:0001627	intron_variant	728130	.					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.166+3A>G	10.37:g.89118191A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89108171	.	A6NGV9	Intron	SNP	ENST00000381697.2	37																																																																																					0.522	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000470142.1	NR_075100	
MINPP1	9562	broad.mit.edu	37	10	89268084	89268084	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:89268084C>A	ENST00000371996.4	+	2	678				MINPP1_ENST00000536010.1_Intron|MINPP1_ENST00000371994.4_Intron	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1						bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AAATTTTTTTCTCTTTCAGAT	0.274																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						23.0	27.0	25.0					10																	89268084		2189	4284	6473	89258064	SO:0001627	intron_variant	9562	.			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.638-9C>A	10.37:g.89268084C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89258064	.	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Intron	SNP	ENST00000371996.4	37	CCDS7384.1																																																																																				0.274	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1		
LIPN	643418	broad.mit.edu	37	10	90526016	90526016	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:90526016T>C	ENST00000404459.1	+	4	425					NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GCCCCTGTTTTATTTTGCAGT	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						96.0	91.0	93.0					10																	90526016		1791	4063	5854	90515996	SO:0001627	intron_variant	643418	.				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.426-10T>C	10.37:g.90526016T>C		Somatic		Capture	Illumina HiSeq	Phase_I	90515996	.	A7KIH9	Intron	SNP	ENST00000404459.1	37	CCDS44456.1																																																																																				0.328	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751	
HECTD2	143279	broad.mit.edu	37	10	93257855	93257855	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:93257855C>A	ENST00000298068.5	+	16	1774				HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000371667.1_Intron|HECTD2_ENST00000446394.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TAACAGATTTCTTTTTATAGG	0.313																																					.	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Unknown(1)	large_intestine(1)	.	10						.						61.0	65.0	64.0					10																	93257855		2203	4291	6494	93247835	SO:0001627	intron_variant	143279	.			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1681-10C>A	10.37:g.93257855C>A		Somatic		Capture	Illumina HiSeq	Phase_I	93247835	.	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Intron	SNP	ENST00000298068.5	37	CCDS7414.1																																																																																				0.313	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
MYOF	26509	broad.mit.edu	37	10	95211797	95211797	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:95211797A>G	ENST00000359263.4	-	3	236				MYOF_ENST00000371488.3_Intron|MYOF_ENST00000358334.5_Intron|MYOF_ENST00000371502.4_Intron|MYOF_ENST00000371489.1_Intron|MYOF_ENST00000371501.4_Intron	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACAGGTGAAAACAACTTACT	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	10						.						153.0	151.0	151.0					10																	95211797		1806	4071	5877	95201787	SO:0001627	intron_variant	26509	.			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.236+9T>C	10.37:g.95211797A>G		Somatic		Capture	Illumina HiSeq	Phase_I	95201787	.	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Intron	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.308	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
CYP2C9	1559	broad.mit.edu	37	10	96698430	96698430	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:96698430G>T	ENST00000260682.6	+	0	3				CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9						arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AACAAGAAGAGAAGGCTTCAA	0.453																																					.	Ovarian(54;1266 1406 16072 35076)											.	.	0			.	10						.						300.0	288.0	292.0					10																	96698430		2203	4300	6503	96688420	SO:0001623	5_prime_UTR_variant	1559	.			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.-10G>T	10.37:g.96698430G>T		Somatic		Capture	Illumina HiSeq	Phase_I	96688420	.	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	5'UTR	SNP	ENST00000260682.6	37	CCDS7437.1																																																																																				0.453	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
HPS1	3257	broad.mit.edu	37	10	100179791	100179791	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:100179791G>A	ENST00000325103.6	-	18	2091				HPS1_ENST00000361490.4_Intron|HPS1_ENST00000467246.1_Intron	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1						blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGGGACTCAGCCTCACCTAC	0.527									Hermansky-Pudlak syndrome																												AAChange												COSMIC_Codon	COSMIC_Gene	0			ChromChange	10						Drug_Target						172.0	144.0	154.0					10																	100179791		2203	4300	6503	100169781	SO:0001627	intron_variant	3257	Exon	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1857+10C>T	10.37:g.100179791G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100169781	TranscriptID	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Intron	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																				0.527	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
Unknown	0	broad.mit.edu	37	10	135491082	135491082	+	IGR	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr10:135491082G>C								AL845259.1 (17903 upstream) : None (None downstream)																							CCCCCGGCGGGGGTCACCCTG	0.741																																					.												.	.	0			.	10						.						16.0	19.0	18.0					10																	135491082		1172	2235	3407	135341072	SO:0001628	intergenic_variant	728410	.																															10.37:g.135491082G>C		Somatic		Capture	Illumina HiSeq	Phase_I	135341072	.		Intron	SNP		37																																																																																				0	0.741								
DYNC2H1	79659	broad.mit.edu	37	11	103191923	103191923	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103191923delT	ENST00000375735.2	+	81	12035	c.11891delT	c.(11890-11892)attfs	p.I3964fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.I3971fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3964					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P1406fs*44(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAGAAAAGCATTTTTCCATAT	0.328																																					p.I3964fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.11891delT	11						.						97.0	90.0	92.0					11																	103191923		1836	4086	5922	102697133	SO:0001589	frameshift_variant	79659	exon81			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11891delT	11.37:g.103191923delT	ENSP00000364887:p.Ile3964fs	Somatic		Capture	Illumina HiSeq	Phase_I	102697133	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	CCDS53701.1																																																																																				0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
GRIA4	2893	broad.mit.edu	37	11	105789472	105789472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105789472delA	ENST00000530497.1	+	10	1304	c.1304delA	c.(1303-1305)gaafs	p.E435fs	GRIA4_ENST00000282499.5_Frame_Shift_Del_p.E435fs|GRIA4_ENST00000393127.2_Frame_Shift_Del_p.E435fs|GRIA4_ENST00000525187.1_Frame_Shift_Del_p.E435fs			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	435					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.M436fs*13(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAAAATCATGAAATGTTTGAA	0.303																																					p.E435fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1304delA	11						.						51.0	50.0	50.0					11																	105789472		2202	4299	6501	105294682	SO:0001589	frameshift_variant	2893	exon11			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1304delA	11.37:g.105789472delA	ENSP00000435775:p.Glu435fs	Somatic		Capture	Illumina HiSeq	Phase_I	105294682	NM_001077243	Q86XE8	Frame_Shift_Del	DEL	ENST00000530497.1	37	CCDS8333.1																																																																																				0.303	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
RSF1	51773	broad.mit.edu	37	11	77475655	77475655	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:77475655delT	ENST00000308488.6	-	2	569	c.267delA	c.(265-267)aaafs	p.K89fs	RSF1_ENST00000360355.2_Frame_Shift_Del_p.K89fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	89					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.K89fs*3(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGATCAAATATTTTTCCCATC	0.284																																					p.K89fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.267delA	11						.						91.0	93.0	92.0					11																	77475655		2199	4290	6489	77153303	SO:0001589	frameshift_variant	51773	exon2			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.267delA	11.37:g.77475655delT	ENSP00000311513:p.Lys89fs	Somatic		Capture	Illumina HiSeq	Phase_I	77153303	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Del	DEL	ENST00000308488.6	37	CCDS8253.1																																																																																				0.284	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
PGR	5241	broad.mit.edu	37	11	100922276	100922276	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:100922276C>A	ENST00000325455.5	-	5	3689	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	PGR_ENST00000534013.1_Missense_Mutation_p.D152Y|PGR_ENST00000263463.5_Missense_Mutation_p.D644Y	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	746	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D746Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GTTATCTGGTCATCAATATGT	0.328																																					p.D746Y	Pancreas(124;2271 2354 21954 22882)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2236T	11						.						94.0	93.0	94.0					11																	100922276		2203	4300	6503	100427486	SO:0001583	missense	5241	exon5			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2236G>T	11.37:g.100922276C>A	ENSP00000325120:p.Asp746Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100427486	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935314	0.73442	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	T;T;D	0.99924	0.01;0.01;-8.02	5.24	4.32	0.51571	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	M	0.94142	3.5	0.51767	D	0.999939	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95781	0.8817	10	0.87932	D	0	.	15.1464	0.72657	0.1425:0.8575:0.0:0.0	.	644;746;127	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Y	746;152;644;644	ENSP00000325120:D746Y;ENSP00000436561:D152Y;ENSP00000263463:D644Y	ENSP00000263463:D644Y	D	-	1	0	PGR	100427486	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	1.166000	0.42689	0.650000	0.86243	GAC		0.328	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
TRPC6	7225	broad.mit.edu	37	11	101353752	101353752	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:101353752C>T	ENST00000344327.3	-	5	1862	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T	TRPC6_ENST00000348423.4_Missense_Mutation_p.A364T|TRPC6_ENST00000532133.1_Missense_Mutation_p.A480T|TRPC6_ENST00000360497.4_Missense_Mutation_p.A425T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	480					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A480T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCTGTTTTGCATTATCTGTG	0.423																																					p.A480T	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1438A	11						.						191.0	164.0	173.0					11																	101353752		2203	4299	6502	100858962	SO:0001583	missense	7225	exon5			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1438G>A	11.37:g.101353752C>T	ENSP00000340913:p.Ala480Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100858962	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432793	0.43224	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79141	-1.06;-1.2;-0.98;-1.24	5.78	4.82	0.62117	.	0.367417	0.31450	N	0.007637	T	0.58779	0.2146	N	0.14661	0.345	0.34217	D	0.675009	B;P;B	0.35033	0.123;0.481;0.075	B;B;B	0.33454	0.117;0.164;0.055	T	0.65129	-0.6243	10	0.18710	T	0.47	-16.7627	11.3461	0.49561	0.1411:0.7229:0.1361:0.0	.	425;364;480	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	480;480;364;425	ENSP00000340913:A480T;ENSP00000435574:A480T;ENSP00000343672:A364T;ENSP00000353687:A425T	ENSP00000340913:A480T	A	-	1	0	TRPC6	100858962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.430000	0.52807	2.733000	0.93635	0.591000	0.81541	GCA		0.423	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
YAP1	10413	broad.mit.edu	37	11	102076776	102076776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102076776C>T	ENST00000282441.5	+	5	1343	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	YAP1_ENST00000531439.1_Missense_Mutation_p.R319W|YAP1_ENST00000526343.1_Missense_Mutation_p.R281W|YAP1_ENST00000345877.2_Missense_Mutation_p.R281W|YAP1_ENST00000524575.1_Missense_Mutation_p.R141W|YAP1_ENST00000537274.1_Missense_Mutation_p.R319W	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	319	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R319W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GGAGAGGCTGCGGCTGAAACA	0.552																																					p.R281W	Colon(50;247 1103 7861 28956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C841T	11						.						46.0	51.0	49.0					11																	102076776		2203	4299	6502	101581986	SO:0001583	missense	10413	exon4				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.955C>T	11.37:g.102076776C>T	ENSP00000282441:p.Arg319Trp	Somatic		Capture	Illumina HiSeq	Phase_I	101581986	NM_006106	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529148	0.64860	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.55760	0.5;0.54;0.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.64404	1.975	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	0.982;0.995;0.976;0.999;0.991;0.997	T	0.71800	-0.4483	10	0.87932	D	0	.	15.4999	0.75691	0.1467:0.8533:0.0:0.0	.	141;236;281;319;319;281	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	W	281;319;319;281;236;319;141	ENSP00000434134:R281W;ENSP00000331023:R281W;ENSP00000435602:R141W	ENSP00000282441:R319W	R	+	1	2	YAP1	101581986	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	2.440000	0.44855	2.756000	0.94617	0.561000	0.74099	CGG		0.552	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106	
BIRC3	330	broad.mit.edu	37	11	102196072	102196072	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102196072A>C	ENST00000263464.3	+	2	3582	c.832A>C	c.(832-834)Agt>Cgt	p.S278R	BIRC3_ENST00000532808.1_Missense_Mutation_p.S278R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	278					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S278R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GCAGCTTGCAAGTGCGGGTTT	0.343			T	MALT1	MALT																																p.S278R			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A832C	11						.						60.0	62.0	61.0					11																	102196072		2197	4297	6494	101701282	SO:0001583	missense	330	exon3			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.832A>C	11.37:g.102196072A>C	ENSP00000263464:p.Ser278Arg	Somatic		Capture	Illumina HiSeq	Phase_I	101701282	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	7.521	0.656593	0.14580	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609;ENST00000527309	T;T;T	0.70986	3.9;3.9;-0.53	5.4	2.99	0.34606	Baculoviral inhibition of apoptosis protein repeat (5);	0.441952	0.30060	N	0.010506	T	0.37517	0.1006	N	0.05441	-0.05	0.27256	N	0.958758	P	0.36660	0.564	B	0.32624	0.149	T	0.17107	-1.0380	10	0.13108	T	0.6	.	0.5153	0.00602	0.4455:0.2013:0.1598:0.1934	.	278	Q13489	BIRC3_HUMAN	R	278;278;127;41	ENSP00000263464:S278R;ENSP00000432907:S278R;ENSP00000431718:S41R	ENSP00000263464:S278R	S	+	1	0	BIRC3	101701282	0.992000	0.36948	0.427000	0.26684	0.295000	0.27426	3.472000	0.53114	0.438000	0.26450	0.477000	0.44152	AGT		0.343	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
MMP8	4317	broad.mit.edu	37	11	102589264	102589264	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102589264G>T	ENST00000236826.3	-	5	763	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	222					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.S222Y(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GAGCCCCAAAGAATGGCCAAA	0.483																																					p.S222Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665A	11						.						152.0	126.0	135.0					11																	102589264		2203	4299	6502	102094474	SO:0001583	missense	4317	exon5			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.665C>A	11.37:g.102589264G>T	ENSP00000236826:p.Ser222Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	102094474	NM_002424	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.98|18.98	3.736919|3.736919	0.69304|0.69304	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.23348	.|1.91	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.56097	.|D	.|0.000026	T|T	0.64670|0.64670	0.2619|0.2619	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;1.0	T|T	0.73610|0.73610	-0.3928|-0.3928	5|10	.|0.87932	.|D	.|0	.|.	20.0018|20.0018	0.97417|0.97417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;157;222	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	L|Y	197|222;199;157	.|ENSP00000236826:S222Y	.|ENSP00000236826:S222Y	F|S	-|-	3|2	2|0	MMP8|MMP8	102094474|102094474	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.204000|0.204000	0.24138|0.24138	9.279000|9.279000	0.95777|0.95777	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.483	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
MMP8	4317	broad.mit.edu	37	11	102593305	102593305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102593305G>A	ENST00000236826.3	-	2	300	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	68					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R68*(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCAAAAAATCGCTGCATTTCT	0.433																																					p.R68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C202T	11						.						181.0	178.0	179.0					11																	102593305		2203	4299	6502	102098515	SO:0001587	stop_gained	4317	exon2			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.202C>T	11.37:g.102593305G>A	ENSP00000236826:p.Arg68*	Somatic		Capture	Illumina HiSeq	Phase_I	102098515	NM_002424	Q45F99	Nonsense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.043968|3.043968	0.55110|0.55110	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|.	.|.	.|.	5.92|5.92	-1.32|-1.32	0.09201|0.09201	.|.	.|0.746561	.|0.11797	.|N	.|0.528525	T|.	0.22205|.	0.0535|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35943|.	-0.9768|.	3|.	.|0.14656	.|T	.|0.56	.|.	5.1148|5.1148	0.14829|0.14829	0.0627:0.2323:0.2749:0.4301|0.0627:0.2323:0.2749:0.4301	.|.	.|.	.|.	.|.	V|X	43|68;45;3	.|.	.|ENSP00000236826:R68X	A|R	-|-	2|1	0|2	MMP8|MMP8	102098515|102098515	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.954000|0.954000	0.61252|0.61252	-1.725000|-1.725000	0.01863|0.01863	0.059000|0.059000	0.16252|0.16252	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.433	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
MMP10	4319	broad.mit.edu	37	11	102650323	102650323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102650323G>A	ENST00000279441.4	-	2	295	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	87					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R87C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CTGGGCTTGCGCATCACCTCC	0.488																																					p.R87C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C259T	11						.						116.0	93.0	101.0					11																	102650323		2203	4299	6502	102155533	SO:0001583	missense	4319	exon2			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.259C>T	11.37:g.102650323G>A	ENSP00000279441:p.Arg87Cys	Somatic		Capture	Illumina HiSeq	Phase_I	102155533	NM_002425	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	17.13	3.309857	0.60414	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.40476	1.03;1.03	4.25	-1.82	0.07857	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	1.719440	0.03032	N	0.152204	T	0.55862	0.1947	M	0.89968	3.075	0.25638	N	0.986236	D	0.67145	0.996	P	0.49421	0.61	T	0.52419	-0.8578	10	0.87932	D	0	.	3.8408	0.08914	0.0834:0.3001:0.3934:0.2231	.	87	P09238	MMP10_HUMAN	C	87	ENSP00000279441:R87C;ENSP00000441485:R87C	ENSP00000279441:R87C	R	-	1	0	MMP10	102155533	0.000000	0.05858	0.006000	0.13384	0.762000	0.43233	0.044000	0.13992	-0.094000	0.12374	0.591000	0.81541	CGC		0.488	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
MMP13	4322	broad.mit.edu	37	11	102822868	102822868	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102822868G>A	ENST00000260302.3	-	5	700	c.672C>T	c.(670-672)ttC>ttT	p.F224F	MMP13_ENST00000340273.4_Silent_p.F224F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	224	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F224F(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGAGTGGCCGAACTCATGCG	0.443																																					p.F224F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C672T	11						.						167.0	158.0	161.0					11																	102822868		2202	4299	6501	102328078	SO:0001819	synonymous_variant	4322	exon5			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.672C>T	11.37:g.102822868G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102328078	NM_002427	A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	CCDS8324.1																																																																																				0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
MMP13	4322	broad.mit.edu	37	11	102826180	102826180	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102826180T>G	ENST00000260302.3	-	2	191	c.163A>C	c.(163-165)Atc>Ctc	p.I55L	MMP13_ENST00000340273.4_Missense_Mutation_p.I55L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	55					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I55L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TCCTTCAGGATTCCCGCGAGA	0.453																																					p.I55L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A163C	11						.						162.0	156.0	158.0					11																	102826180		2202	4299	6501	102331390	SO:0001583	missense	4322	exon2			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.163A>C	11.37:g.102826180T>G	ENSP00000260302:p.Ile55Leu	Somatic		Capture	Illumina HiSeq	Phase_I	102331390	NM_002427	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	T	3.772	-0.047347	0.07407	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.35048	1.33;1.33	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.905200	0.02164	N	0.059046	T	0.32585	0.0834	L	0.31476	0.935	0.33146	D	0.545037	B	0.09022	0.002	B	0.13407	0.009	T	0.23084	-1.0198	10	0.10902	T	0.67	.	12.858	0.57897	0.0:0.0:0.1358:0.8642	.	55	P45452	MMP13_HUMAN	L	55	ENSP00000260302:I55L;ENSP00000339672:I55L	ENSP00000260302:I55L	I	-	1	0	MMP13	102331390	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	1.225000	0.32551	2.326000	0.78906	0.533000	0.62120	ATC		0.453	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
DYNC2H1	79659	broad.mit.edu	37	11	103005091	103005091	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103005091G>T	ENST00000375735.2	+	15	2292	c.2148G>T	c.(2146-2148)caG>caT	p.Q716H	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q716H|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.Q716H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	716	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q716H(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGCAGCAACAGCGCTGGAAAG	0.363																																					p.Q716H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2148T	11						.						158.0	154.0	155.0					11																	103005091		1868	4105	5973	102510301	SO:0001583	missense	79659	exon15			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2148G>T	11.37:g.103005091G>T	ENSP00000364887:p.Gln716His	Somatic		Capture	Illumina HiSeq	Phase_I	102510301	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	g	11.76	1.733580	0.30684	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.32988	1.62;1.43;1.62	5.64	3.37	0.38596	.	1.082090	0.07257	U	0.866809	T	0.52533	0.1740	L	0.56769	1.78	0.47214	D	0.999359	D;B;B	0.76494	0.999;0.212;0.318	D;B;B	0.85130	0.997;0.067;0.142	T	0.09357	-1.0678	10	0.54805	T	0.06	.	10.2966	0.43627	0.1873:0.0:0.8127:0.0	.	716;716;716	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	H	716	ENSP00000364887:Q716H;ENSP00000334021:Q716H;ENSP00000381167:Q716H	ENSP00000334021:Q716H	Q	+	3	2	DYNC2H1	102510301	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	1.321000	0.33678	0.497000	0.27926	0.486000	0.48141	CAG		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103029523	103029523	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103029523A>C	ENST00000375735.2	+	27	4389	c.4245A>C	c.(4243-4245)ttA>ttC	p.L1415F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1415F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1415	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAATCATTAAATGAATTTT	0.254																																					p.L1415F												.	.	0			c.A4245C	11						.						15.0	13.0	14.0					11																	103029523		1666	3808	5474	102534733	SO:0001583	missense	79659	exon27			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4245A>C	11.37:g.103029523A>C	ENSP00000364887:p.Leu1415Phe	Somatic		Capture	Illumina HiSeq	Phase_I	102534733	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412286	0.62511	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.82344	-1.6;-1.6	5.79	0.943	0.19531	Dynein heavy chain, domain-2 (1);	0.000000	0.41001	U	0.000975	D	0.93314	0.7869	H	0.98351	4.21	0.51012	D	0.999904	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92172	0.5744	10	0.87932	D	0	.	9.1074	0.36707	0.597:0.0:0.403:0.0	.	1415;1415	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1415	ENSP00000364887:L1415F;ENSP00000381167:L1415F	ENSP00000364887:L1415F	L	+	3	2	DYNC2H1	102534733	0.981000	0.34729	1.000000	0.80357	0.994000	0.84299	0.170000	0.16663	0.435000	0.26365	0.533000	0.62120	TTA		0.254	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103040870	103040870	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103040870A>C	ENST00000375735.2	+	33	5146	c.5002A>C	c.(5002-5004)Aca>Cca	p.T1668P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1668P|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1668	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACTCCACTGACAGACAAGTG	0.398																																					p.T1668P												.	.	0			c.A5002C	11						.						100.0	94.0	96.0					11																	103040870		1877	4107	5984	102546080	SO:0001583	missense	79659	exon33			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5002A>C	11.37:g.103040870A>C	ENSP00000364887:p.Thr1668Pro	Somatic		Capture	Illumina HiSeq	Phase_I	102546080	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144471	0.77888	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39997	1.05;1.05	5.54	5.54	0.83059	.	3.950680	0.01626	U	0.023279	T	0.81278	0.4789	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65965	-0.6040	10	0.87932	D	0	.	15.6723	0.77289	1.0:0.0:0.0:0.0	.	1668;1668	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	P	1668	ENSP00000364887:T1668P;ENSP00000381167:T1668P	ENSP00000364887:T1668P	T	+	1	0	DYNC2H1	102546080	1.000000	0.71417	0.937000	0.37676	0.641000	0.38312	9.335000	0.96500	2.103000	0.63969	0.477000	0.44152	ACA		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103048492	103048492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103048492G>T	ENST00000375735.2	+	38	6226	c.6082G>T	c.(6082-6084)Gaa>Taa	p.E2028*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E2028*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2028	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGACACAAGAGAATGGTCTGA	0.378																																					p.E2028X												.	.	0			c.G6082T	11						.						123.0	120.0	121.0					11																	103048492		1903	4108	6011	102553702	SO:0001587	stop_gained	79659	exon38			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6082G>T	11.37:g.103048492G>T	ENSP00000364887:p.Glu2028*	Somatic		Capture	Illumina HiSeq	Phase_I	102553702	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	47	13.687879	0.99757	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4752	0.94985	0.0:0.0:1.0:0.0	.	.	.	.	X	2028	.	ENSP00000364887:E2028X	E	+	1	0	DYNC2H1	102553702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.610000	0.88304	0.650000	0.86243	GAA		0.378	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103057229	103057229	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103057229G>T	ENST00000375735.2	+	42	7036	c.6892G>T	c.(6892-6894)Ggg>Tgg	p.G2298W	DYNC2H1_ENST00000398093.3_Splice_Site_p.G2298W|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2298	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGCAAAGGGTAAGAAAA	0.383																																					p.G2298W												.	.	0			c.G6892T	11						.						41.0	39.0	40.0					11																	103057229		1827	4079	5906	102562439	SO:0001630	splice_region_variant	79659	exon42			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6893+1G>T	11.37:g.103057229G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102562439	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600302	0.87055	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39592	1.07;1.07	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.62073	0.2398	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68353	0.957;0.951	T	0.62793	-0.6779	9	0.87932	D	0	.	19.8452	0.96705	0.0:0.0:1.0:0.0	.	2298;2298	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	W	2298	ENSP00000364887:G2298W;ENSP00000381167:G2298W	ENSP00000364887:G2298W	G	+	1	0	DYNC2H1	102562439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.069000	0.93967	2.679000	0.91253	0.555000	0.69702	GGG		0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation
DYNC2H1	79659	broad.mit.edu	37	11	103102062	103102062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103102062G>T	ENST00000375735.2	+	60	9571	c.9427G>T	c.(9427-9429)Gaa>Taa	p.E3143*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3143*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3143	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E576*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAAGGTATCAGAACTCAAAGA	0.294																																					p.E3143X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9427T	11						.						34.0	35.0	35.0					11																	103102062		1808	4057	5865	102607272	SO:0001587	stop_gained	79659	exon60			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9427G>T	11.37:g.103102062G>T	ENSP00000364887:p.Glu3143*	Somatic		Capture	Illumina HiSeq	Phase_I	102607272	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	51	17.732538	0.99892	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.05	5.05	0.67936	.	0.118020	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	18.3968	0.90502	0.0:0.0:1.0:0.0	.	.	.	.	X	3143	.	ENSP00000364887:E3143X	E	+	1	0	DYNC2H1	102607272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.664000	0.91139	2.344000	0.79699	0.460000	0.39030	GAA		0.294	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103104864	103104864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103104864G>T	ENST00000375735.2	+	61	9686	c.9542G>T	c.(9541-9543)aGa>aTa	p.R3181I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3181I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3181					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R614I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGCTTGACAGAGAACATAAG	0.403																																					p.R3181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9542T	11						.						54.0	50.0	52.0					11																	103104864		1840	4095	5935	102610074	SO:0001583	missense	79659	exon61			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9542G>T	11.37:g.103104864G>T	ENSP00000364887:p.Arg3181Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102610074	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779562	0.90195	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74209	-0.82;-0.82	5.31	5.31	0.75309	Dynein heavy chain, coiled coil stalk (1);	0.054225	0.85682	D	0.000000	T	0.71617	0.3361	N	0.22421	0.69	0.80722	D	1	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.73544	-0.3949	10	0.51188	T	0.08	.	19.3341	0.94307	0.0:0.0:1.0:0.0	.	3181;3181	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3181	ENSP00000364887:R3181I;ENSP00000381167:R3181I	ENSP00000364887:R3181I	R	+	2	0	DYNC2H1	102610074	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	8.993000	0.93524	2.645000	0.89757	0.585000	0.79938	AGA		0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103130680	103130680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103130680G>T	ENST00000375735.2	+	70	10813	c.10669G>T	c.(10669-10671)Gaa>Taa	p.E3557*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3564*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E997*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATGGTATATGAATATATATG	0.259																																					p.E3557X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G10669T	11						.						26.0	25.0	25.0					11																	103130680		1791	4020	5811	102635890	SO:0001587	stop_gained	79659	exon70			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10669G>T	11.37:g.103130680G>T	ENSP00000364887:p.Glu3557*	Somatic		Capture	Illumina HiSeq	Phase_I	102635890	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	52	19.420324	0.99919	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.7	4.79	0.61399	.	0.053364	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.7209	0.69305	0.0697:0.0:0.9303:0.0	.	.	.	.	X	3557;3564	.	ENSP00000364887:E3557X	E	+	1	0	DYNC2H1	102635890	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.227000	0.78070	1.410000	0.46936	0.460000	0.39030	GAA		0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103158279	103158279	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103158279G>A	ENST00000375735.2	+	75	11184	c.11040G>A	c.(11038-11040)gcG>gcA	p.A3680A	DYNC2H1_ENST00000398093.3_Silent_p.A3687A|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3680			A -> V (in dbSNP:rs10895391). {ECO:0000269|PubMed:12056414}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A1120A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAGTACAGGCGCTAAGACCGG	0.328																																					p.A3680A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G11040A	11						.						92.0	85.0	87.0					11																	103158279		1823	4077	5900	102663489	SO:0001819	synonymous_variant	79659	exon75			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11040G>A	11.37:g.103158279G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102663489	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DDI1	414301	broad.mit.edu	37	11	103907716	103907716	+	Missense_Mutation	SNP	G	G	A	rs114724610		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103907716G>A	ENST00000302259.3	+	1	409	c.166G>A	c.(166-168)Gag>Aag	p.E56K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	56	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)	p.E56K(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTCCTCATCGAGGACCACTG	0.587																																					p.E56K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G166A	11						.						140.0	130.0	133.0					11																	103907716		2202	4299	6501	103412926	SO:0001583	missense	414301	exon1				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.166G>A	11.37:g.103907716G>A	ENSP00000302805:p.Glu56Lys	Somatic		Capture	Illumina HiSeq	Phase_I	103412926	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.70	1.717884	0.30413	.	.	ENSG00000170967	ENST00000302259	T	0.44482	0.92	4.97	3.1	0.35709	Ubiquitin supergroup (1);Ubiquitin (2);	0.149367	0.64402	D	0.000016	T	0.24236	0.0587	N	0.19112	0.55	0.28605	N	0.908973	B	0.23854	0.092	B	0.18561	0.022	T	0.12243	-1.0555	10	0.48119	T	0.1	-20.066	6.2955	0.21083	0.093:0.0:0.7244:0.1826	.	56	Q8WTU0	DDI1_HUMAN	K	56	ENSP00000302805:E56K	ENSP00000302805:E56K	E	+	1	0	DDI1	103412926	0.974000	0.33945	0.027000	0.17364	0.003000	0.03518	2.872000	0.48467	0.812000	0.34326	0.655000	0.94253	GAG		0.587	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
CARD17	440068	broad.mit.edu	37	11	104971459	104971459	+	Missense_Mutation	SNP	C	C	T	rs145180818	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:104971459C>T	ENST00000375707.1	-	2	71	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	19	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E19K(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATTGTACCTTCGCCCACTGAA	0.423													.|||	4	0.000798722	0.0008	0.0	5008	,	,		22428	0.002		0.0	False		,,,				2504	0.001				p.E19K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	11						.	C	LYS/GLU	1,4403		0,1,2201	213.0	201.0	205.0		55	-3.3	0.0	11	dbSNP_134	205	1,8597		0,1,4298	yes	missense	CARD17	NM_001007232.1	56	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154		19/111	104971459	2,13000	2202	4299	6501	104476669	SO:0001583	missense	440068	exon2				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.55G>A	11.37:g.104971459C>T	ENSP00000364859:p.Glu19Lys	Somatic		Capture	Illumina HiSeq	Phase_I	104476669	NM_001007232		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	.	0.963	-0.702599	0.03255	2.27E-4	1.16E-4	ENSG00000255221	ENST00000375707	T	0.15372	2.43	2.92	-3.31	0.04988	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.08846	0.0219	L	0.31804	0.96	0.09310	N	1	B	0.20550	0.046	B	0.18561	0.022	T	0.43909	-0.9362	9	0.06494	T	0.89	.	7.7448	0.28862	0.0:0.5241:0.0:0.4759	.	19	Q5XLA6	CAR17_HUMAN	K	19	ENSP00000364859:E19K	ENSP00000364859:E19K	E	-	1	0	CARD17	104476669	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.678000	0.00839	-0.888000	0.03956	-0.424000	0.05967	GAA		0.423	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232	
GRIA4	2893	broad.mit.edu	37	11	105483018	105483018	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105483018G>A	ENST00000530497.1	+	2	104	c.104G>A	c.(103-105)cGa>cAa	p.R35Q	GRIA4_ENST00000282499.5_Missense_Mutation_p.R35Q|GRIA4_ENST00000428631.2_Missense_Mutation_p.R35Q|GRIA4_ENST00000393127.2_Missense_Mutation_p.R35Q|GRIA4_ENST00000527669.1_Missense_Mutation_p.R35Q|GRIA4_ENST00000525187.1_Missense_Mutation_p.R35Q|GRIA4_ENST00000393125.2_Missense_Mutation_p.R35Q			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	35					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R35Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTCTTCATCCGAAACACAGAT	0.423																																					p.R35Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G104A	11						.						130.0	113.0	119.0					11																	105483018		2202	4299	6501	104988228	SO:0001583	missense	2893	exon3			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.104G>A	11.37:g.105483018G>A	ENSP00000435775:p.Arg35Gln	Somatic		Capture	Illumina HiSeq	Phase_I	104988228	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747041	0.89663	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000058	T	0.46852	0.1414	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;0.999;0.999;0.997	B;D;D;P;D	0.76575	0.399;0.988;0.972;0.603;0.947	T	0.07233	-1.0783	10	0.27785	T	0.31	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	35;35;65;35;35	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	Q	35	ENSP00000376833:R35Q;ENSP00000282499:R35Q;ENSP00000376835:R35Q;ENSP00000415551:R35Q;ENSP00000432443:R35Q;ENSP00000435775:R35Q;ENSP00000432180:R35Q	ENSP00000282499:R35Q	R	+	2	0	GRIA4	104988228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGA		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105769018	105769018	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105769018G>T	ENST00000530497.1	+	6	750	c.750G>T	c.(748-750)gaG>gaT	p.E250D	GRIA4_ENST00000282499.5_Missense_Mutation_p.E250D|GRIA4_ENST00000428631.2_Missense_Mutation_p.E250D|GRIA4_ENST00000393127.2_Missense_Mutation_p.E250D|GRIA4_ENST00000525187.1_Missense_Mutation_p.E250D|GRIA4_ENST00000393125.2_Missense_Mutation_p.E250D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	250					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E250D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTTCTCTTGAGAGGTTTATAC	0.313																																					p.E250D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G750T	11						.						48.0	50.0	49.0					11																	105769018		2202	4299	6501	105274228	SO:0001583	missense	2893	exon7			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.750G>T	11.37:g.105769018G>T	ENSP00000435775:p.Glu250Asp	Somatic		Capture	Illumina HiSeq	Phase_I	105274228	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196063	0.38806	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.071630	0.64402	D	0.000020	T	0.14313	0.0346	N	0.05280	-0.08	0.53688	D	0.999975	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.09487	-1.0672	10	0.33940	T	0.23	.	14.7173	0.69280	0.0:0.2645:0.7355:0.0	.	250;250;250	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	D	250	ENSP00000376833:E250D;ENSP00000282499:E250D;ENSP00000376835:E250D;ENSP00000415551:E250D;ENSP00000435775:E250D;ENSP00000432180:E250D	ENSP00000282499:E250D	E	+	3	2	GRIA4	105274228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.956000	0.40382	2.704000	0.92352	0.655000	0.94253	GAG		0.313	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105769108	105769108	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105769108G>A	ENST00000530497.1	+	6	840	c.840G>A	c.(838-840)aaG>aaA	p.K280K	GRIA4_ENST00000282499.5_Silent_p.K280K|GRIA4_ENST00000428631.2_Silent_p.K280K|GRIA4_ENST00000393127.2_Silent_p.K280K|GRIA4_ENST00000525187.1_Silent_p.K280K|GRIA4_ENST00000393125.2_Silent_p.K280K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	280					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.K280K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATCGCTGGAAGAAACTAGATC	0.353																																					p.K280K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G840A	11						.						61.0	62.0	62.0					11																	105769108		2202	4299	6501	105274318	SO:0001819	synonymous_variant	2893	exon7			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.840G>A	11.37:g.105769108G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105274318	NM_001077243	Q86XE8	Silent	SNP	ENST00000530497.1	37	CCDS8333.1																																																																																				0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105795351	105795351	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105795351T>G	ENST00000530497.1	+	11	1703	c.1703T>G	c.(1702-1704)tTt>tGt	p.F568C	GRIA4_ENST00000282499.5_Missense_Mutation_p.F568C|GRIA4_ENST00000393127.2_Missense_Mutation_p.F568C|GRIA4_ENST00000525187.1_Missense_Mutation_p.F568C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	568					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F568C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTTAGTAGATTTAGTCCATAT	0.478																																					p.F568C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1703G	11						.						155.0	134.0	141.0					11																	105795351		2202	4299	6501	105300561	SO:0001583	missense	2893	exon12			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1703T>G	11.37:g.105795351T>G	ENSP00000435775:p.Phe568Cys	Somatic		Capture	Illumina HiSeq	Phase_I	105300561	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380032	0.82682	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.85	5.85	0.93711	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.65995	0.2745	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75311	-0.3362	10	0.87932	D	0	.	16.2317	0.82347	0.0:0.0:0.0:1.0	.	568;568	P48058;G3V164	GRIA4_HUMAN;.	C	568	ENSP00000282499:F568C;ENSP00000376835:F568C;ENSP00000435775:F568C;ENSP00000432180:F568C	ENSP00000282499:F568C	F	+	2	0	GRIA4	105300561	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.237000	0.73441	0.528000	0.53228	TTT		0.478	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105845135	105845135	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105845135C>A	ENST00000530497.1	+	15	2508	c.2508C>A	c.(2506-2508)ttC>ttA	p.F836L	GRIA4_ENST00000282499.5_Missense_Mutation_p.F836L|GRIA4_ENST00000393127.2_Missense_Mutation_p.F836L|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.F836L|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	836					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F836L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGATAGAGTTCTGTTACAAGT	0.498																																					p.F836L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2508A	11						.						158.0	143.0	148.0					11																	105845135		2201	4299	6500	105350345	SO:0001583	missense	2893	exon16			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2508C>A	11.37:g.105845135C>A	ENSP00000435775:p.Phe836Leu	Somatic		Capture	Illumina HiSeq	Phase_I	105350345	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446448	0.96187	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.14893	2.62;2.47;2.62;2.47	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.51007	0.1649	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.992	T	0.56854	-0.7910	10	0.87932	D	0	.	19.8576	0.96767	0.0:1.0:0.0:0.0	.	836;836	P48058;G3V164	GRIA4_HUMAN;.	L	836	ENSP00000282499:F836L;ENSP00000376835:F836L;ENSP00000435775:F836L;ENSP00000432180:F836L	ENSP00000282499:F836L	F	+	3	2	GRIA4	105350345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.696000	0.92011	0.655000	0.94253	TTC		0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GUCY1A2	2977	broad.mit.edu	37	11	106558335	106558335	+	Silent	SNP	C	C	T	rs373644440		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:106558335C>T	ENST00000526355.2	-	8	2607	c.2139G>A	c.(2137-2139)tcG>tcA	p.S713S	GUCY1A2_ENST00000282249.2_Silent_p.S744S|GUCY1A2_ENST00000347596.2_Silent_p.S734S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	713					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S713S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTTTTATTCTCGACGAAGAAA	0.473																																					p.S713S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2139A	11						.	C		0,4402		0,0,2201	165.0	162.0	163.0		2139	-4.8	0.9	11		163	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	GUCY1A2	NM_000855.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		713/733	106558335	2,12996	2201	4298	6499	106063545	SO:0001819	synonymous_variant	2977	exon8			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2139G>A	11.37:g.106558335C>T		Somatic		Capture	Illumina HiSeq	Phase_I	106063545	NM_000855	A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	CCDS8335.1																																																																																				0.473	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106579390	106579390	+	Missense_Mutation	SNP	C	C	A	rs148799635		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:106579390C>A	ENST00000526355.2	-	7	2307	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M644I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M634I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	613	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.M613I(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTCCTATCCTCATCTAAAGAA	0.368																																					p.M613I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1839T	11						.						58.0	56.0	57.0					11																	106579390		2201	4298	6499	106084600	SO:0001583	missense	2977	exon7			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1839G>T	11.37:g.106579390C>A	ENSP00000431245:p.Met613Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106084600	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326093	0.60743	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80123	-1.34;-1.34;-1.34	6.02	6.02	0.97574	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.53938	U	0.000041	T	0.76162	0.3949	L	0.39245	1.2	0.58432	D	0.999993	P;B;P	0.45474	0.859;0.194;0.859	P;B;P	0.44696	0.458;0.143;0.458	T	0.71600	-0.4544	10	0.06494	T	0.89	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	634;644;613	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	613;644;634	ENSP00000431245:M613I;ENSP00000282249:M644I;ENSP00000344874:M634I	ENSP00000282249:M644I	M	-	3	0	GUCY1A2	106084600	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.289000	0.51747	2.865000	0.98341	0.655000	0.94253	ATG		0.368	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
CWF19L2	143884	broad.mit.edu	37	11	107288971	107288971	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:107288971C>A	ENST00000282251.5	-	9	1503	c.1476G>T	c.(1474-1476)gaG>gaT	p.E492D	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E492D	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	492							catalytic activity (GO:0003824)	p.E338D(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTTGTTCTTCTCATCAACAC	0.378																																					p.E492D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1476T	11						.						187.0	168.0	174.0					11																	107288971		2201	4298	6499	106794181	SO:0001583	missense	143884	exon9			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1476G>T	11.37:g.107288971C>A	ENSP00000282251:p.Glu492Asp	Somatic		Capture	Illumina HiSeq	Phase_I	106794181	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453501	0.63290	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.39056	1.1;1.1	5.52	1.07	0.20283	.	0.047833	0.85682	D	0.000000	T	0.44265	0.1285	M	0.80746	2.51	0.48395	D	0.999641	B	0.29835	0.258	B	0.36567	0.228	T	0.20605	-1.0270	10	0.30078	T	0.28	-24.728	8.2906	0.31954	0.0:0.54:0.0:0.46	.	492	Q2TBE0	C19L2_HUMAN	D	492	ENSP00000282251:E492D;ENSP00000387533:E492D	ENSP00000282251:E492D	E	-	3	2	CWF19L2	106794181	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	0.152000	0.16302	-0.001000	0.14495	0.591000	0.81541	GAG		0.378	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CWF19L2	143884	broad.mit.edu	37	11	107299884	107299884	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:107299884C>A	ENST00000282251.5	-	8	1101	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E358D	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	358							catalytic activity (GO:0003824)	p.E204D(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CAAAAGAAAACTCTTGATTTT	0.348																																					p.E358D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1074T	11						.						96.0	100.0	99.0					11																	107299884		2201	4298	6499	106805094	SO:0001583	missense	143884	exon8			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1074G>T	11.37:g.107299884C>A	ENSP00000282251:p.Glu358Asp	Somatic		Capture	Illumina HiSeq	Phase_I	106805094	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	3.923	-0.017762	0.07681	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23348	1.91;1.91	5.21	-5.92	0.02261	.	1.336750	0.04488	N	0.379003	T	0.12518	0.0304	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.26608	-1.0098	10	0.11182	T	0.66	-0.0791	0.013	0.00001	0.3034:0.2135:0.1997:0.2835	.	358	Q2TBE0	C19L2_HUMAN	D	358	ENSP00000282251:E358D;ENSP00000387533:E358D	ENSP00000282251:E358D	E	-	3	2	CWF19L2	106805094	0.027000	0.19231	0.202000	0.23494	0.314000	0.28054	-0.785000	0.04628	-0.922000	0.03789	0.591000	0.81541	GAG		0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CTR9	9646	broad.mit.edu	37	11	10774310	10774310	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:10774310C>A	ENST00000361367.2	+	2	563	c.137C>A	c.(136-138)gCt>gAt	p.A46D		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	46					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.A46D(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATATGGATTGCTTTGGCGGTC	0.368																																					p.A46D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137A	11						.						221.0	211.0	215.0					11																	10774310		2201	4294	6495	10730886	SO:0001583	missense	9646	exon2			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.137C>A	11.37:g.10774310C>A	ENSP00000355013:p.Ala46Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10730886	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291028	0.40494	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.79554	-1.28	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	N	0.01874	-0.695	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.58387	-0.7645	10	0.11794	T	0.64	-13.9016	17.8485	0.88738	0.0:1.0:0.0:0.0	.	46	Q6PD62	CTR9_HUMAN	D	46;33	ENSP00000355013:A46D	ENSP00000355013:A46D	A	+	2	0	CTR9	10730886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.483000	0.81158	2.650000	0.89964	0.563000	0.77884	GCT		0.368	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
ELMOD1	55531	broad.mit.edu	37	11	107501245	107501245	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:107501245C>A	ENST00000265840.7	+	3	385	c.120C>A	c.(118-120)atC>atA	p.I40I	ELMOD1_ENST00000531234.1_Silent_p.I34I|ELMOD1_ENST00000443271.2_Silent_p.I40I	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	40					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.I40I(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TACAACGGATCTGTTATAATA	0.408																																					p.I40I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120A	11						.						68.0	63.0	65.0					11																	107501245		1845	4091	5936	107006455	SO:0001819	synonymous_variant	55531	exon3			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.120C>A	11.37:g.107501245C>A		Somatic		Capture	Illumina HiSeq	Phase_I	107006455	NM_001130037	B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	CCDS44723.1																																																																																				0.408	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
CUL5	8065	broad.mit.edu	37	11	107925480	107925480	+	Silent	SNP	G	G	A	rs138939451		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:107925480G>A	ENST00000393094.2	+	6	1276	c.660G>A	c.(658-660)tcG>tcA	p.S220S		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	220					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.S220S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGCACCCTCGTATTTACAAC	0.299																																					p.S220S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660A	11						.	A		2,4400	4.2+/-10.8	0,2,2199	52.0	55.0	54.0		660	-4.5	0.9	11	dbSNP_134	54	0,8582		0,0,4291	no	coding-synonymous	CUL5	NM_003478.3		0,2,6490	AA,AG,GG		0.0,0.0454,0.0154		220/781	107925480	2,12982	2201	4291	6492	107430690	SO:0001819	synonymous_variant	8065	exon6			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.660G>A	11.37:g.107925480G>A		Somatic		Capture	Illumina HiSeq	Phase_I	107430690	NM_003478	A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	g	7.469	0.646261	0.14451	4.54E-4	0.0	ENSG00000166266	ENST00000532782	.	.	.	6.02	-4.54	0.03452	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42732	-0.9434	4	.	.	.	-8.3421	5.1226	0.14867	0.5564:0.0748:0.2603:0.1086	.	.	.	.	I	117	.	.	V	+	1	0	CUL5	107430690	0.011000	0.17503	0.939000	0.37840	0.948000	0.59901	-0.855000	0.04295	-0.850000	0.04152	-1.551000	0.00897	GTA		0.299	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		
ATM	472	broad.mit.edu	37	11	108115600	108115600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108115600C>T	ENST00000452508.2	+	8	937	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R250*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	250			R -> Q. {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R250*(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTTCGAATTCGAGTGTGTGA	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.R250X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	4	Substitution - Nonsense(4)	large_intestine(2)|kidney(2)	c.C748T	11	GRCh37	CM030188|CS991299	ATM	M|S		.						123.0	114.0	117.0					11																	108115600		2200	4298	6498	107620810	SO:0001587	stop_gained	472	exon7	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.748C>T	11.37:g.108115600C>T	ENSP00000388058:p.Arg250*	Somatic		Capture	Illumina HiSeq	Phase_I	107620810	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	38	6.953864	0.97960	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.33	3.43	0.39272	.	0.499073	0.19940	N	0.102677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6503	0.45645	0.1323:0.7986:0.0:0.0691	.	.	.	.	X	250	.	ENSP00000278616:R250X	R	+	1	2	ATM	107620810	1.000000	0.71417	0.203000	0.23512	0.947000	0.59692	2.176000	0.42500	0.725000	0.32318	0.650000	0.86243	CGA		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108168100	108168100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108168100G>T	ENST00000452508.2	+	34	5185	c.4996G>T	c.(4996-4998)Gaa>Taa	p.E1666*	ATM_ENST00000278616.4_Nonsense_Mutation_p.E1666*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1666					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1666*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGTGAAAAAGAAGTTCTAGG	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.E1666X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4996T	11						.						78.0	74.0	76.0					11																	108168100		2201	4298	6499	107673310	SO:0001587	stop_gained	472	exon33	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4996G>T	11.37:g.108168100G>T	ENSP00000388058:p.Glu1666*	Somatic		Capture	Illumina HiSeq	Phase_I	107673310	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	48	14.569046	0.99801	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	4.97	2.9	0.33743	.	0.243530	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.0113	0.64498	0.0:0.2877:0.7123:0.0	.	.	.	.	X	1666	.	ENSP00000278616:E1666X	E	+	1	0	ATM	107673310	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.921000	0.56454	1.183000	0.42943	0.655000	0.94253	GAA		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108190751	108190751	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108190751T>G	ENST00000452508.2	+	45	6607	c.6418T>G	c.(6418-6420)Ttc>Gtc	p.F2140V	ATM_ENST00000278616.4_Missense_Mutation_p.F2140V|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2140	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.F2140V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGACAGAGAATTCTCTACATT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.F2140V		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6418G	11						.						87.0	93.0	91.0					11																	108190751		2201	4293	6494	107695961	SO:0001583	missense	472	exon44	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6418T>G	11.37:g.108190751T>G	ENSP00000388058:p.Phe2140Val	Somatic		Capture	Illumina HiSeq	Phase_I	107695961	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771608	0.90108	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.72051	-0.62;-0.62	5.47	5.47	0.80525	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81230	0.4779	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	T	0.78526	-0.2170	10	0.20519	T	0.43	.	15.5559	0.76192	0.0:0.0:0.0:1.0	.	2140	Q13315	ATM_HUMAN	V	2140	ENSP00000278616:F2140V;ENSP00000388058:F2140V	ENSP00000278616:F2140V	F	+	1	0	ATM	107695961	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.165000	0.77544	2.087000	0.62958	0.533000	0.62120	TTC		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EIF4G2	1982	broad.mit.edu	37	11	10821272	10821272	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:10821272C>A	ENST00000526148.1	-	19	2661	c.2151G>T	c.(2149-2151)gaG>gaT	p.E717D	EIF4G2_ENST00000339995.5_Missense_Mutation_p.E717D|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.E717D|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.E679D	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.E717D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTCCAAAATCTCCAACATGC	0.413																																					p.E717D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2151T	11						.						112.0	108.0	109.0					11																	10821272		2201	4294	6495	10777848	SO:0001583	missense	1982	exon19			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2151G>T	11.37:g.10821272C>A	ENSP00000433664:p.Glu717Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10777848	NM_001418		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611694	0.66558	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000379653	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.71	3.79	0.43588	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.78049	2.395	0.44168	D	0.996974	P;P	0.50710	0.832;0.938	B;B	0.41894	0.284;0.369	T	0.67317	-0.5701	9	0.66056	D	0.02	-9.3223	11.5245	0.50571	0.0:0.8507:0.0:0.1493	.	717;790	P78344;B4DZF2	IF4G2_HUMAN;.	D	717;717;717;679;790;99	ENSP00000433664:E717D;ENSP00000433371:E717D;ENSP00000340281:E717D;ENSP00000379778:E679D	ENSP00000340281:E717D	E	-	3	2	EIF4G2	10777848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.038000	0.57318	0.719000	0.32188	0.563000	0.77884	GAG		0.413	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
EIF4G2	1982	broad.mit.edu	37	11	10827515	10827515	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:10827515C>T	ENST00000526148.1	-	4	697	c.187G>A	c.(187-189)Gca>Aca	p.A63T	EIF4G2_ENST00000339995.5_Missense_Mutation_p.A63T|EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000525681.1_Missense_Mutation_p.A63T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.A63T	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.A63T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGTTTGCTGCGGAGTTGTCA	0.438																																					p.A63T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	11						.						265.0	236.0	246.0					11																	10827515		2201	4294	6495	10784091	SO:0001583	missense	1982	exon4			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.187G>A	11.37:g.10827515C>T	ENSP00000433664:p.Ala63Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10784091	NM_001418		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942525	0.34283	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000532570;ENST00000526591;ENST00000530211;ENST00000527526;ENST00000530702	T;T;T;T;T;T;T;T	0.47869	2.15;2.15;2.15;2.15;1.84;1.89;1.89;0.83	5.34	5.34	0.76211	.	0.212043	0.33057	N	0.005321	T	0.17662	0.0424	N	0.03608	-0.345	0.31437	N	0.672473	B;P	0.42010	0.451;0.768	B;B	0.21917	0.02;0.037	T	0.29610	-1.0006	9	0.18276	T	0.48	-6.5943	12.422	0.55525	0.0:0.9236:0.0:0.0764	.	63;136	P78344;B4DZF2	IF4G2_HUMAN;.	T	63;63;63;63;136;63;63;63;63;63;63;63;41	ENSP00000433664:A63T;ENSP00000433371:A63T;ENSP00000340281:A63T;ENSP00000379778:A63T;ENSP00000431583:A63T;ENSP00000433121:A63T;ENSP00000435523:A63T;ENSP00000431511:A63T	ENSP00000340281:A63T	A	-	1	0	EIF4G2	10784091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.775000	0.55349	2.498000	0.84270	0.557000	0.71058	GCA		0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
ATM	472	broad.mit.edu	37	11	108198453	108198453	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108198453C>A	ENST00000452508.2	+	49	7246	c.7057C>A	c.(7057-7059)Cct>Act	p.P2353T	ATM_ENST00000278616.4_Missense_Mutation_p.P2353T|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2353	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.P2353T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTAGAAAATCCTGCGGTCAT	0.383			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.P2353T		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7057A	11						.						89.0	82.0	84.0					11																	108198453		2201	4298	6499	107703663	SO:0001583	missense	472	exon48	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7057C>A	11.37:g.108198453C>A	ENSP00000388058:p.Pro2353Thr	Somatic		Capture	Illumina HiSeq	Phase_I	107703663	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871001	0.91587	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70516	-0.49;-0.49	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86666	0.1907	10	0.72032	D	0.01	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	T	2353	ENSP00000278616:P2353T;ENSP00000388058:P2353T	ENSP00000278616:P2353T	P	+	1	0	ATM	107703663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT		0.383	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ZC3H12C	85463	broad.mit.edu	37	11	110007398	110007398	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:110007398T>G	ENST00000278590.3	+	2	83	c.32T>G	c.(31-33)gTg>gGg	p.V11G	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.V12G	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	11							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.V11G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAATACGGGGTGCTTTGCATT	0.398																																					p.V11G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T32G	11						.						74.0	74.0	74.0					11																	110007398		1899	4107	6006	109512608	SO:0001583	missense	85463	exon2				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.32T>G	11.37:g.110007398T>G	ENSP00000278590:p.Val11Gly	Somatic		Capture	Illumina HiSeq	Phase_I	109512608	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	t	12.57	1.979144	0.34942	.	.	ENSG00000149289	ENST00000278590;ENST00000528673	T;T	0.33438	1.43;1.41	5.63	3.51	0.40186	.	.	.	.	.	T	0.17195	0.0413	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.002;0.006;0.006	B;B;B	0.15870	0.01;0.014;0.014	T	0.05115	-1.0905	9	0.87932	D	0	-1.0588	6.1629	0.20373	0.0:0.526:0.0:0.4739	.	12;11;11	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	G	11;12	ENSP00000278590:V11G;ENSP00000431821:V12G	ENSP00000278590:V11G	V	+	2	0	ZC3H12C	109512608	0.998000	0.40836	0.993000	0.49108	0.997000	0.91878	2.013000	0.40942	0.454000	0.26884	0.533000	0.62120	GTG		0.398	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ARHGAP20	57569	broad.mit.edu	37	11	110453130	110453130	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:110453130C>A	ENST00000260283.4	-	15	1919	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E88D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E509D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E522D|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E509D|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E519D|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E519D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	545	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E545D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAAGGCAATTCTCAATCAGAA	0.328																																					p.E545D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1635T	11						.						98.0	102.0	101.0					11																	110453130		2201	4298	6499	109958340	SO:0001583	missense	57569	exon15			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1635G>T	11.37:g.110453130C>A	ENSP00000260283:p.Glu545Asp	Somatic		Capture	Illumina HiSeq	Phase_I	109958340	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453584	0.43531	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.44482	0.92;0.92;1.91;0.92;0.92;0.92;0.92	5.71	3.34	0.38264	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.248895	0.39544	N	0.001331	T	0.36193	0.0958	L	0.45137	1.4	0.29106	N	0.881179	B;B;B	0.31817	0.341;0.125;0.198	B;B;B	0.36666	0.23;0.072;0.151	T	0.28808	-1.0032	10	0.46703	T	0.11	.	9.1604	0.37019	0.0:0.2297:0.0:0.7703	.	519;545;522	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	D	545;519;88;522;509;519;509	ENSP00000260283:E545D;ENSP00000349660:E519D;ENSP00000437905:E88D;ENSP00000432076:E522D;ENSP00000436319:E509D;ENSP00000436522:E519D;ENSP00000431399:E509D	ENSP00000260283:E545D	E	-	3	2	ARHGAP20	109958340	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.385000	0.34408	0.413000	0.25759	0.467000	0.42956	GAG		0.328	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
LAYN	143903	broad.mit.edu	37	11	111420382	111420382	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111420382C>A	ENST00000375615.3	+	4	632	c.447C>A	c.(445-447)gtC>gtA	p.V149V	LAYN_ENST00000436913.2_Intron|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000533265.1_Silent_p.V141V|LAYN_ENST00000375614.2_Silent_p.V141V|LAYN_ENST00000525126.1_Silent_p.V149V	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.V141V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GCAGCGAGGTCTGCGTGGTCA	0.552																																					p.V141V	Ovarian(17;551 586 12136 22082 22900)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423A	11						.						86.0	78.0	81.0					11																	111420382		2201	4297	6498	110925592	SO:0001819	synonymous_variant	143903	exon3				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.447C>A	11.37:g.111420382C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110925592	NM_178834	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	CCDS58178.1																																																																																				0.552	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834	
PPP2R1B	5519	broad.mit.edu	37	11	111618707	111618707	+	Missense_Mutation	SNP	G	G	A	rs369559748		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111618707G>A	ENST00000527614.1	-	11	1435	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.S330F|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.S457F|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.S393F|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.S412F|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.S296F	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	457					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.S457F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATACATAAAGAATTCAGCTT	0.333																																					p.S393F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1178T	11						.						105.0	96.0	99.0					11																	111618707		2201	4296	6497	111123917	SO:0001583	missense	5519	exon9			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1370C>T	11.37:g.111618707G>A	ENSP00000437193:p.Ser457Phe	Somatic		Capture	Illumina HiSeq	Phase_I	111123917	NM_181700	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780898	0.70222	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.154981	0.64402	D	0.000017	T	0.45296	0.1335	M	0.74881	2.28	0.58432	D	0.999999	B;B;B;B;B;B	0.34399	0.452;0.039;0.24;0.301;0.248;0.264	B;B;B;B;B;B	0.36030	0.216;0.06;0.182;0.151;0.041;0.057	T	0.47497	-0.9113	10	0.72032	D	0.01	-15.7065	17.7493	0.88429	0.0:0.0:1.0:0.0	.	330;412;296;393;457;457	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	F	457;330;393;457;296;412;330	ENSP00000311344:S457F;ENSP00000410671:S393F;ENSP00000437193:S457F;ENSP00000415759:S296F;ENSP00000343317:S412F;ENSP00000376775:S330F	ENSP00000311344:S457F	S	-	2	0	PPP2R1B	111123917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.077000	0.94016	2.861000	0.98227	0.655000	0.94253	TCT		0.333	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	
FDXACB1	91893	broad.mit.edu	37	11	111746234	111746234	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111746234C>A	ENST00000260257.4	-	5	1334	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	FDXACB1_ENST00000542429.1_Missense_Mutation_p.E280D|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	429					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.E429D(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GCTTAGAGCTCTCCGGCAATG	0.428																																					p.E429D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1287T	11						.						121.0	118.0	119.0					11																	111746234		1895	4139	6034	111251444	SO:0001583	missense	91893	exon5				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1287G>T	11.37:g.111746234C>A	ENSP00000260257:p.Glu429Asp	Somatic		Capture	Illumina HiSeq	Phase_I	111251444	NM_138378	A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.960886	0.00465	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.73047	0.3;-0.71;0.81	5.86	-0.984	0.10259	.	0.423008	0.25236	N	0.032124	T	0.49813	0.1579	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17930	-1.0353	10	0.21014	T	0.42	.	3.9482	0.09358	0.2786:0.3361:0.0:0.3853	.	429	Q9BRP7	FDXA1_HUMAN	D	429;280;340	ENSP00000260257:E429D;ENSP00000441304:E280D;ENSP00000435572:E340D	ENSP00000260257:E429D	E	-	3	2	FDXACB1	111251444	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.177000	0.09796	0.057000	0.16193	0.655000	0.94253	GAG		0.428	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378	
C11orf57	55216	broad.mit.edu	37	11	111946345	111946345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111946345G>A	ENST00000280352.9	+	2	683	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	C11orf57_ENST00000530104.1_Missense_Mutation_p.R16Q|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000530641.1_5'Flank|PIH1D2_ENST00000280350.4_5'Flank|PIH1D2_ENST00000431456.1_5'Flank|PIH1D2_ENST00000532211.1_5'Flank|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000393047.3_Missense_Mutation_p.R16Q|C11orf57_ENST00000420986.2_Missense_Mutation_p.R16Q|PIH1D2_ENST00000528775.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	16								p.R16Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AATGTCATCCGGCACACAGAT	0.428																																					p.R16Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47A	11						.						61.0	59.0	60.0					11																	111946345		1909	4124	6033	111451555	SO:0001583	missense	55216	exon2			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.47G>A	11.37:g.111946345G>A	ENSP00000339076:p.Arg16Gln	Somatic		Capture	Illumina HiSeq	Phase_I	111451555	NM_001082969	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	CCDS41715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.911902|3.911902	0.72983|0.72983	.|.	.|.	ENSG00000150776|ENSG00000150776	ENST00000531378|ENST00000420986;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047	.|.	.|.	.|.	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.64402	.|U	.|0.000011	T|T	0.69771|0.69771	0.3148|0.3148	M|M	0.68593|0.68593	2.085|2.085	0.36718|0.36718	D|D	0.881048|0.881048	.|D;D;D	.|0.71674	.|0.998;0.99;0.99	.|P;P;P	.|0.55087	.|0.768;0.544;0.544	T|T	0.78705|0.78705	-0.2100|-0.2100	6|9	0.87932|0.72032	D|D	0|0.01	-3.5589|-3.5589	17.0955|17.0955	0.86634|0.86634	0.0:0.0:0.8722:0.1278|0.0:0.0:0.8722:0.1278	.|.	.|16;16;16	.|E9PLE3;Q6ZUT1-2;Q6ZUT1	.|.;.;CK057_HUMAN	S|Q	4|16	.|.	ENSP00000434054:G4S|ENSP00000339076:R16Q	G|R	+|+	1|2	0|0	C11orf57|C11orf57	111451555|111451555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.654000|7.654000	0.83653|0.83653	1.615000|1.615000	0.50252|0.50252	-0.169000|-0.169000	0.13324|0.13324	GGC|CGG		0.428	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
SDHD	6392	broad.mit.edu	37	11	111965564	111965564	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111965564G>T	ENST00000375549.3	+	4	485	c.350G>T	c.(349-351)gGg>gTg	p.G117V	SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000528048.1_Missense_Mutation_p.G69W|SDHD_ENST00000528182.1_Missense_Mutation_p.G115W|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525291.1_Missense_Mutation_p.G78V|SDHD_ENST00000528021.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	117					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)	p.G117V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TATGTTCATGGGGATGCCTTG	0.413			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																												p.G117V		yes	Rec		Familial paraganglioma	11	11q23	6392	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350T	11						.						74.0	73.0	73.0					11																	111965564		2201	4297	6498	111470774	SO:0001583	missense	6392	exon4	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.350G>T	11.37:g.111965564G>T	ENSP00000364699:p.Gly117Val	Somatic		Capture	Illumina HiSeq	Phase_I	111470774	NM_003002	A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	CCDS31678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.535991|3.535991	0.64972|0.64972	.|.	.|.	ENSG00000204370|ENSG00000204370	ENST00000375549;ENST00000525291|ENST00000528182;ENST00000528048	D;D|D;D	0.98978|0.93488	-5.29;-5.29|-3.23;-1.93	4.85|4.85	2.94|2.94	0.34122|0.34122	.|.	0.168161|0.168161	0.52532|0.52532	D|D	0.000077|0.000077	D|D	0.93690|0.93690	0.7984|0.7984	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	P|.	0.38992|.	0.653|.	B|.	0.40702|.	0.338|.	D|D	0.93676|0.93676	0.6994|0.6994	10|8	0.87932|0.87932	D|D	0|0	-4.3905|-4.3905	11.3565|11.3565	0.49620|0.49620	0.151:0.0:0.849:0.0|0.151:0.0:0.849:0.0	.|.	117|.	O14521|.	DHSD_HUMAN|.	V|W	117;78|115;69	ENSP00000364699:G117V;ENSP00000436669:G78V|ENSP00000435475:G115W;ENSP00000436217:G69W	ENSP00000364699:G117V|ENSP00000436217:G69W	G|G	+|+	2|1	0|0	SDHD|SDHD	111470774|111470774	1.000000|1.000000	0.71417|0.71417	0.512000|0.512000	0.27736|0.27736	0.820000|0.820000	0.46376|0.46376	5.397000|5.397000	0.66302|0.66302	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.413	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002	
PTS	5805	broad.mit.edu	37	11	112104158	112104158	+	Silent	SNP	G	G	A	rs568878711		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:112104158G>A	ENST00000280362.3	+	6	397	c.318G>A	c.(316-318)acG>acA	p.T106T	PTS_ENST00000524931.1_Silent_p.T38T|PTS_ENST00000525803.1_3'UTR	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	106			T -> M (in HPABH4A). {ECO:0000269|PubMed:9450907}.		cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.T106T(1)		breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		CTTATAGCACGACTGAAAATG	0.264													G|||	1	0.000199681	0.0	0.0	5008	,	,		17185	0.0		0.0	False		,,,				2504	0.001				p.T106T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G318A	11						.						34.0	36.0	35.0					11																	112104158		2191	4291	6482	111609368	SO:0001819	synonymous_variant	5805	exon6			U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.318G>A	11.37:g.112104158G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111609368	NM_000317	B0YJ87|Q8WVG8	Silent	SNP	ENST00000280362.3	37	CCDS8359.1																																																																																				0.264	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317	
NCAM1	4684	broad.mit.edu	37	11	113105855	113105855	+	Silent	SNP	C	C	T	rs199567425		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113105855C>T	ENST00000533760.1	+	13	2009	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.S597S|NCAM1_ENST00000316851.7_Silent_p.S588S	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	598	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S588S(2)|p.S597S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAGATCAGCGCGGCCTCCG	0.632																																					p.R589C												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C1765T	11						.	C	,,,,	1,4051		0,1,2025	29.0	33.0	32.0		1765,1765,1873,1765,1795	2.5	0.7	11		32	4,8306		0,4,4151	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCAM1	NM_000615.6,NM_001076682.3,NM_001242607.1,NM_001242608.1,NM_181351.4	,,,,	0,5,6176	TT,TC,CC		0.0481,0.0247,0.0404	,,,,	588/849,588/762,624/885,588/727,598/859	113105855	5,12357	2026	4155	6181	112611065	SO:0001819	synonymous_variant	4684	exon13				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1410C>T	11.37:g.113105855C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112611065	NM_000615	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37																																																																																					0.632	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
NCAM1	4684	broad.mit.edu	37	11	113126621	113126621	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113126621C>T	ENST00000533760.1	+	15	2066	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.L607L	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	617	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L616L(1)|p.L607L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CACCTAAGCTCGAAGGGCAGA	0.493																																					p.R608X												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1822T	11						.						45.0	46.0	45.0					11																	113126621		1961	4141	6102	112631831	SO:0001819	synonymous_variant	4684	exon14				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1467C>T	11.37:g.113126621C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112631831	NM_000615	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	5'UTR	SNP	ENST00000533760.1	37																																																																																					0.493	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
TTC12	54970	broad.mit.edu	37	11	113222922	113222922	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113222922G>T	ENST00000529221.1	+	16	1544	c.1439G>T	c.(1438-1440)aGc>aTc	p.S480I	TTC12_ENST00000314756.3_Missense_Mutation_p.S480I|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.S486I|TTC12_ENST00000393020.1_Missense_Mutation_p.S480I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	480								p.S480I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGCTGCTTGAGCCTCCTGGTA	0.473																																					p.S480I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1439T	11						.						134.0	132.0	133.0					11																	113222922		2201	4296	6497	112728132	SO:0001583	missense	54970	exon16			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1439G>T	11.37:g.113222922G>T	ENSP00000433757:p.Ser480Ile	Somatic		Capture	Illumina HiSeq	Phase_I	112728132	NM_017868	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	5.650	0.304521	0.10678	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.29	-1.76	0.08006	Armadillo-like helical (1);Armadillo-type fold (1);	1.516590	0.03475	N	0.214236	T	0.28863	0.0716	N	0.08118	0	0.20926	N	0.99982	B;B	0.25955	0.138;0.138	B;B	0.23574	0.047;0.047	T	0.28964	-1.0027	10	0.44086	T	0.13	-3.4312	9.3904	0.38370	0.69:0.0:0.31:0.0	.	480;480	A8K8G6;Q9H892	.;TTC12_HUMAN	I	480;480;480;486	ENSP00000433757:S480I;ENSP00000315160:S480I;ENSP00000376743:S480I;ENSP00000419652:S486I	ENSP00000315160:S480I	S	+	2	0	TTC12	112728132	0.004000	0.15560	0.921000	0.36526	0.046000	0.14306	0.282000	0.18829	-0.141000	0.11374	-0.749000	0.03505	AGC		0.473	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
USP28	57646	broad.mit.edu	37	11	113701639	113701639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113701639G>A	ENST00000003302.4	-	9	928	c.860C>T	c.(859-861)cCa>cTa	p.P287L	USP28_ENST00000537706.1_Missense_Mutation_p.P287L|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000545540.1_Missense_Mutation_p.P162L|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Missense_Mutation_p.P287L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	287	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P287L(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGCACCATTGGATTTTCAGA	0.373																																					p.P287L	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860T	11						.						164.0	156.0	158.0					11																	113701639		2201	4296	6497	113206849	SO:0001583	missense	57646	exon9			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.860C>T	11.37:g.113701639G>A	ENSP00000003302:p.Pro287Leu	Somatic		Capture	Illumina HiSeq	Phase_I	113206849	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997986	0.93227	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;3.54	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.49699	1.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.21621	-1.0240	10	0.21014	T	0.42	-15.0923	18.6277	0.91347	0.0:0.0:1.0:0.0	.	162;287;287	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	L	287;287;162;51;287;186	ENSP00000003302:P287L;ENSP00000260188:P287L;ENSP00000444991:P162L;ENSP00000442257:P51L;ENSP00000445743:P287L;ENSP00000440799:P186L	ENSP00000003302:P287L	P	-	2	0	USP28	113206849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.696000	0.91302	2.702000	0.92279	0.462000	0.41574	CCA		0.373	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
HTR3B	9177	broad.mit.edu	37	11	113802570	113802570	+	Missense_Mutation	SNP	G	G	A	rs555971306		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113802570G>A	ENST00000260191.2	+	4	606	c.349G>A	c.(349-351)Gat>Aat	p.D117N	HTR3B_ENST00000537778.1_Missense_Mutation_p.D106N	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	117					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.D117N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CTGGGCCCCCGATATCATCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18841	0.001		0.0	False		,,,				2504	0.0				p.D117N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	11						.						129.0	115.0	120.0					11																	113802570		2201	4296	6497	113307780	SO:0001583	missense	9177	exon4			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.349G>A	11.37:g.113802570G>A	ENSP00000260191:p.Asp117Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113307780	NM_006028	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020540	0.75275	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.84370	-1.84;-1.84	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94761	0.8309	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95794	0.8827	10	0.87932	D	0	-15.423	18.3237	0.90246	0.0:0.0:1.0:0.0	.	106;117	O95264-2;O95264	.;5HT3B_HUMAN	N	117;106	ENSP00000260191:D117N;ENSP00000443118:D106N	ENSP00000260191:D117N	D	+	1	0	HTR3B	113307780	1.000000	0.71417	0.999000	0.59377	0.430000	0.31655	9.388000	0.97237	2.697000	0.92050	0.563000	0.77884	GAT		0.453	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028	
HTR3A	3359	broad.mit.edu	37	11	113853843	113853843	+	Splice_Site	SNP	G	G	A	rs143696508		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:113853843G>A	ENST00000504030.2	+	5	821	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Splice_Site_p.V132M|HTR3A_ENST00000355556.2_Splice_Site_p.V132M|HTR3A_ENST00000506841.2_Splice_Site_p.V126M|HTR3A_ENST00000299961.5_Splice_Site_p.V111M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	126					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.V126M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCCGCCAGCGTGGATGTGGG	0.542																																					p.V111M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	11						.	G	MET/VAL,MET/VAL,MET/VAL	1,4401	2.1+/-5.4	0,1,2200	94.0	85.0	88.0		394,331,394	3.5	1.0	11	dbSNP_134	88	1,8591	1.2+/-3.3	0,1,4295	no	missense-near-splice,missense-near-splice,missense-near-splice	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	21,21,21	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	132/485,111/464,132/517	113853843	2,12992	2201	4296	6497	113359053	SO:0001630	splice_region_variant	3359	exon5			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.375-1G>A	11.37:g.113853843G>A		Somatic		Capture	Illumina HiSeq	Phase_I	113359053	NM_001161772	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	G	19.37	3.815255	0.70912	2.27E-4	1.16E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.39	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	L	0.38531	1.155	0.80722	D	1	D;D;D	0.69078	0.994;0.994;0.997	D;P;D	0.68483	0.933;0.808;0.958	T	0.82633	-0.0361	10	0.87932	D	0	-28.1947	12.3236	0.54999	0.1404:0.0:0.8596:0.0	.	111;132;132	B4DSY6;G5E986;Q7KZM7	.;.;.	M	126;132;132;126;111	ENSP00000424189:V126M;ENSP00000347754:V132M;ENSP00000364648:V132M;ENSP00000424776:V126M;ENSP00000299961:V111M	ENSP00000299961:V111M	V	+	1	0	HTR3A	113359053	1.000000	0.71417	0.952000	0.39060	0.754000	0.42855	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GTG		0.542	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	Missense_Mutation
NNMT	4837	broad.mit.edu	37	11	114183100	114183100	+	Silent	SNP	C	C	T	rs536229777		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:114183100C>T	ENST00000535401.1	+	5	960	c.696C>T	c.(694-696)atC>atT	p.I232I	NNMT_ENST00000299964.3_Silent_p.I232I|NNMT_ENST00000542647.1_Silent_p.I37I|NNMT_ENST00000541754.1_Silent_p.I37I|NNMT_ENST00000545255.1_Silent_p.I37I|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	232					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.I232I(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GCTACACAATCGAATGGTTTG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19883	0.0		0.0	False		,,,				2504	0.0				p.I232I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T	11						.						78.0	78.0	78.0					11																	114183100		2201	4296	6497	113688310	SO:0001819	synonymous_variant	4837	exon3			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.696C>T	11.37:g.114183100C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113688310	NM_006169		Silent	SNP	ENST00000535401.1	37	CCDS8368.1																																																																																				0.537	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169	
RBM7	10179	broad.mit.edu	37	11	114270803	114270803	+	5'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:114270803C>T	ENST00000540163.1	+	0	52				RBM7_ENST00000545678.1_5'Flank|RBM7_ENST00000544582.1_5'Flank|RBM7_ENST00000375490.5_5'Flank|C11orf71_ENST00000325636.4_Missense_Mutation_p.S84N|RP11-212D19.4_ENST00000544347.1_5'Flank|RBM7_ENST00000541475.1_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7						meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S84N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGCTTGGCGGCTCCGGCCCCG	0.617																																					p.S84N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	11						.						39.0	42.0	41.0					11																	114270803		1893	4113	6006	113776013	SO:0001623	5_prime_UTR_variant	54494	exon1			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.-591C>T	11.37:g.114270803C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113776013	NM_019021	B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348023	0.61183	.	.	ENSG00000180425	ENST00000325636	.	.	.	4.84	0.476	0.16779	.	1.094830	0.06994	N	0.822131	T	0.29288	0.0729	L	0.32530	0.975	0.18873	N	0.999989	B;B	0.24258	0.009;0.1	B;B	0.20767	0.01;0.031	T	0.33394	-0.9870	9	0.66056	D	0.02	-2.262	3.1969	0.06636	0.1627:0.3858:0.3541:0.0974	.	84;84	Q6IPW1;Q6IPW1-2	CK071_HUMAN;.	N	84	.	ENSP00000325508:S84N	S	-	2	0	C11orf71	113776013	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	0.497000	0.22514	0.223000	0.20920	0.655000	0.94253	AGC		0.617	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090	
NXPE1	120400	broad.mit.edu	37	11	114393738	114393738	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:114393738T>G	ENST00000424269.1	-	4	970	c.971A>C	c.(970-972)aAa>aCa	p.K324T	NXPE1_ENST00000536271.1_Missense_Mutation_p.K40T|NXPE1_ENST00000251921.2_Missense_Mutation_p.K182T			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	324						extracellular region (GO:0005576)		p.K182T(1)									TGTTATCCATTTTCCTTGTAA	0.393																																					p.K182T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A545C	11						.						106.0	93.0	98.0					11																	114393738		2201	4296	6497	113898948	SO:0001583	missense	120400	exon5			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.971A>C	11.37:g.114393738T>G	ENSP00000411690:p.Lys324Thr	Somatic		Capture	Illumina HiSeq	Phase_I	113898948	NM_152315	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	T	5.157	0.214551	0.09810	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.13657	2.57;2.57;2.79	4.4	1.3	0.21679	.	0.737577	0.13112	N	0.412936	T	0.04182	0.0116	N	0.04508	-0.205	0.19300	N	0.999975	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	10	0.02654	T	1	.	4.0454	0.09770	0.1628:0.5509:0.0:0.2864	.	324	Q8N323	FA55A_HUMAN	T	40;182;324	ENSP00000445200:K40T;ENSP00000251921:K182T;ENSP00000411690:K324T	ENSP00000251921:K182T	K	-	2	0	FAM55A	113898948	0.000000	0.05858	0.761000	0.31378	0.435000	0.31806	-0.214000	0.09292	0.184000	0.20083	-0.182000	0.12963	AAA		0.393	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
NXPE1	120400	broad.mit.edu	37	11	114401268	114401268	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:114401268T>G	ENST00000424269.1	-	2	461	c.462A>C	c.(460-462)ggA>ggC	p.G154G	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Silent_p.G12G|NXPE1_ENST00000536312.1_Silent_p.G154G			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	154						extracellular region (GO:0005576)		p.G12G(1)									CCATCACCTTTCCTGAAGCAC	0.572																																					p.G12G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A36C	11						.						79.0	83.0	81.0					11																	114401268		2201	4296	6497	113906478	SO:0001819	synonymous_variant	120400	exon3			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.462A>C	11.37:g.114401268T>G		Somatic		Capture	Illumina HiSeq	Phase_I	113906478	NM_152315	B0YJ13	Silent	SNP	ENST00000424269.1	37																																																																																					0.572	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
CADM1	23705	broad.mit.edu	37	11	115099985	115099985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:115099985G>A	ENST00000452722.3	-	5	589	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CADM1_ENST00000331581.6_Missense_Mutation_p.S190L|CADM1_ENST00000536727.1_Missense_Mutation_p.S190L|CADM1_ENST00000542447.2_Missense_Mutation_p.S190L|CADM1_ENST00000537058.1_Missense_Mutation_p.S190L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.S190L(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTCCACCTCCGATTTGCCTGG	0.507																																					p.S190L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C569T	11						.						95.0	76.0	82.0					11																	115099985		2201	4296	6497	114605195	SO:0001583	missense	23705	exon5			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.569C>T	11.37:g.115099985G>A	ENSP00000395359:p.Ser190Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114605195	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795730|3.795730	0.70452|0.70452	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094	.|T;T;T;T;T;T;T;T	.|0.77358	.|-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	6.17|6.17	6.17|6.17	0.99709|0.99709	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.329614	.|0.33040	.|N	.|0.005352	T|T	0.70928|0.70928	0.3280|0.3280	L|L	0.45137|0.45137	1.4|1.4	0.46849|0.46849	D|D	0.999224|0.999224	.|P;P;P;B;B	.|0.43519	.|0.809;0.68;0.726;0.025;0.448	.|B;B;B;B;B	.|0.34779	.|0.119;0.119;0.189;0.01;0.042	T|T	0.71909|0.71909	-0.4450|-0.4450	5|10	.|0.40728	.|T	.|0.16	.|.	19.0599|19.0599	0.93085|0.93085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;190;191;190;190	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	W|L	174|190;190;190;190;149;190;43;43;157	.|ENSP00000439176:S190L;ENSP00000395359:S190L;ENSP00000439817:S190L;ENSP00000440322:S190L;ENSP00000329797:S190L;ENSP00000442001:S43L;ENSP00000439847:S43L;ENSP00000439696:S157L	.|ENSP00000329797:S190L	R|S	-|-	1|2	2|0	CADM1|CADM1	114605195|114605195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	7.247000|7.247000	0.78257|0.78257	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.507	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
BUD13	84811	broad.mit.edu	37	11	116633414	116633414	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:116633414C>A	ENST00000260210.4	-	4	914	c.891G>T	c.(889-891)aaG>aaT	p.K297N	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	297					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.K297N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	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;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGGAGAAGTCTTGCTAGAGG	0.488																																					p.K297N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G891T	11						.						119.0	119.0	119.0					11																	116633414		2201	4296	6497	116138624	SO:0001583	missense	84811	exon4			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.891G>T	11.37:g.116633414C>A	ENSP00000260210:p.Lys297Asn	Somatic		Capture	Illumina HiSeq	Phase_I	116138624	NM_032725	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045972	0.36085	.	.	ENSG00000137656	ENST00000260210	T	0.18502	2.21	5.08	3.02	0.34903	.	0.163737	0.42682	D	0.000667	T	0.17066	0.0410	M	0.74258	2.255	0.09310	N	0.999998	P;P	0.46706	0.883;0.883	B;B	0.37650	0.255;0.255	T	0.27502	-1.0072	10	0.87932	D	0	-12.2006	5.9897	0.19454	0.0:0.6:0.0:0.4	.	297;297	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	N	297	ENSP00000260210:K297N	ENSP00000260210:K297N	K	-	3	2	BUD13	116138624	0.997000	0.39634	0.316000	0.25252	0.317000	0.28152	1.621000	0.36986	1.200000	0.43188	0.655000	0.94253	AAG		0.488	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725	
SIK3	23387	broad.mit.edu	37	11	116747014	116747014	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:116747014G>T	ENST00000292055.4	-	8	911	c.876C>A	c.(874-876)ctC>ctA	p.L292L	SIK3_ENST00000375300.1_Silent_p.L350L|SIK3_ENST00000446921.2_Silent_p.L350L|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.L292L|SIK3_ENST00000434315.2_Silent_p.L191L	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	292	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L350L(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCATGGCCAAGAGGACATCCT	0.488																																					p.L292L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876A	11						.						227.0	182.0	197.0					11																	116747014		2201	4296	6497	116252224	SO:0001819	synonymous_variant	23387	exon8			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.876C>A	11.37:g.116747014G>T		Somatic		Capture	Illumina HiSeq	Phase_I	116252224	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892503	0.17613	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	T;T	0.72835	-0.69;-0.6	5.59	2.43	0.29744	.	0.000000	0.31949	U	0.006813	T	0.71151	0.3306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66909	-0.5804	7	0.33141	T	0.24	.	10.9895	0.47541	0.0822:0.4056:0.5122:0.0	.	.	.	.	I	344;315;253	ENSP00000391295:L344I;ENSP00000414347:L253I	ENSP00000414347:L253I	L	-	1	0	SIK3	116252224	0.751000	0.28327	1.000000	0.80357	0.976000	0.68499	0.466000	0.22019	0.699000	0.31761	0.650000	0.86243	CTT		0.488	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
RNF214	257160	broad.mit.edu	37	11	117150669	117150669	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117150669C>T	ENST00000531452.1	+	7	1051	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	RNF214_ENST00000300650.4_Silent_p.G335G|RNF214_ENST00000531287.1_Silent_p.G180G|RNF214_ENST00000530849.1_Silent_p.G180G	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	335							zinc ion binding (GO:0008270)	p.G335G(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ATCAGGATGGCGAAATAAATA	0.423																																					p.G335G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	11						.						110.0	107.0	108.0					11																	117150669		1892	4113	6005	116655879	SO:0001819	synonymous_variant	257160	exon7			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1005C>T	11.37:g.117150669C>T		Somatic		Capture	Illumina HiSeq	Phase_I	116655879	NM_001077239	B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	CCDS41720.1																																																																																				0.423	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
CEP164	22897	broad.mit.edu	37	11	117242109	117242109	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117242109G>A	ENST00000278935.3	+	9	1226	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	360					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R360K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		GAGGGTTCCAGGAGGGAAGAG	0.572																																					p.R360K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079A	11						.						94.0	92.0	93.0					11																	117242109		2201	4296	6497	116747319	SO:0001583	missense	22897	exon9			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1079G>A	11.37:g.117242109G>A	ENSP00000278935:p.Arg360Lys	Somatic		Capture	Illumina HiSeq	Phase_I	116747319	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	7.158	0.585044	0.13749	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.57907	0.37	5.37	-4.06	0.03986	.	0.871217	0.09923	N	0.738199	T	0.29684	0.0741	L	0.33485	1.01	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.21075	-1.0256	10	0.21540	T	0.41	-0.0153	0.742	0.00975	0.3193:0.1034:0.2637:0.3136	.	334;360;360	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	K	360;334;287	ENSP00000278935:R360K	ENSP00000278935:R360K	R	+	2	0	CEP164	116747319	0.000000	0.05858	0.000000	0.03702	0.469000	0.32828	-0.835000	0.04386	-0.625000	0.05604	-0.181000	0.13052	AGG		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
CEP164	22897	broad.mit.edu	37	11	117266344	117266344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117266344G>T	ENST00000278935.3	+	24	3142	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	999					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E999*(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		GCAGCTCCGAGAAATTCTTGA	0.572																																					p.E999X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2995T	11						.						55.0	55.0	55.0					11																	117266344		2201	4296	6497	116771554	SO:0001587	stop_gained	22897	exon24			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2995G>T	11.37:g.117266344G>T	ENSP00000278935:p.Glu999*	Somatic		Capture	Illumina HiSeq	Phase_I	116771554	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Nonsense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172919	0.78452	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	.	.	.	5.02	-0.501	0.12008	.	0.546940	0.16786	N	0.199593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.4816	6.0327	0.19688	0.5435:0.2956:0.1609:0.0	.	.	.	.	X	999;973	.	ENSP00000278935:E999X	E	+	1	0	CEP164	116771554	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.006000	0.12833	0.282000	0.22254	-0.458000	0.05436	GAA		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
CEP164	22897	broad.mit.edu	37	11	117266794	117266794	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117266794G>T	ENST00000278935.3	+	25	3261	c.3114G>T	c.(3112-3114)aaG>aaT	p.K1038N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1038					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		AAGCTCAAAAGAAGCAGCACC	0.527																																					p.K1038N												.	.	0			c.G3114T	11						.						86.0	86.0	86.0					11																	117266794		2201	4296	6497	116772004	SO:0001583	missense	22897	exon25			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3114G>T	11.37:g.117266794G>T	ENSP00000278935:p.Lys1038Asn	None		Capture	Illumina HiSeq	Phase_I	116772004	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.430800|2.430800	0.43122|0.43122	.|.	.|.	ENSG00000110274|ENSG00000110274	ENST00000278935;ENST00000529538|ENST00000545330	T|.	0.26518|.	1.73|.	5.15|5.15	3.29|3.29	0.37713|0.37713	.|.	0.221518|.	0.32218|.	N|.	0.006419|.	T|T	0.33818|0.33818	0.0876|0.0876	L|L	0.29908|0.29908	0.895|0.895	0.27122|0.27122	N|N	0.96212|0.96212	B;B;B;B|.	0.32160|.	0.244;0.358;0.358;0.358|.	B;B;B;B|.	0.35971|.	0.075;0.215;0.215;0.215|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|6	0.19147|0.87932	T|D	0.46|0	-15.2471|-15.2471	5.7841|5.7841	0.18322|0.18322	0.178:0.1725:0.6495:0.0|0.178:0.1725:0.6495:0.0	.|.	1012;812;1038;1041|.	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2|.	.;.;CE164_HUMAN;.|.	N|I	1038;1012|313	ENSP00000278935:K1038N|.	ENSP00000278935:K1038N|ENSP00000442430:R313I	K|R	+|+	3|2	2|0	CEP164|CEP164	116772004|116772004	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.877000|0.877000	0.50540|0.50540	1.833000|1.833000	0.39161|0.39161	0.571000|0.571000	0.29365|0.29365	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.527	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
DSCAML1	57453	broad.mit.edu	37	11	117329510	117329510	+	Silent	SNP	G	G	A	rs370976379		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117329510G>A	ENST00000321322.6	-	19	3709	c.3708C>T	c.(3706-3708)ggC>ggT	p.G1236G	DSCAML1_ENST00000527706.1_Silent_p.G966G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1176	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGCGTACGCCGTCCCCAG	0.647																																					p.G1236G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3708T	11						.	A		1,4401	2.1+/-5.4	0,1,2200	100.0	80.0	87.0		3708	-5.3	0.6	11		87	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1236/2114	117329510	1,12993	2201	4296	6497	116834720	SO:0001819	synonymous_variant	57453	exon19				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3708C>T	11.37:g.117329510G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116834720	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
DSCAML1	57453	broad.mit.edu	37	11	117403126	117403126	+	Missense_Mutation	SNP	G	G	A	rs200783383		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117403126G>A	ENST00000321322.6	-	4	804	c.803C>T	c.(802-804)aCc>aTc	p.T268I	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	208	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T268I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTCTGCCGGGTCTCCCCGCT	0.612																																					p.T268I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	11						.						103.0	83.0	90.0					11																	117403126		2201	4296	6497	116908336	SO:0001583	missense	57453	exon4				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.803C>T	11.37:g.117403126G>A	ENSP00000315465:p.Thr268Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116908336	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236764	0.79800	.	.	ENSG00000177103	ENST00000321322	T	0.61627	0.09	4.97	4.05	0.47172	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70037	0.3178	M	0.69185	2.1	0.58432	D	0.999995	P	0.48640	0.913	P	0.56563	0.801	T	0.75147	-0.3420	9	0.72032	D	0.01	.	15.8869	0.79258	0.0:0.1356:0.8644:0.0	.	208	Q8TD84	DSCL1_HUMAN	I	268	ENSP00000315465:T268I	ENSP00000315465:T268I	T	-	2	0	DSCAML1	116908336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.540000	0.98080	1.440000	0.47531	0.655000	0.94253	ACC		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
SCN4B	6330	broad.mit.edu	37	11	118015926	118015926	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118015926A>G	ENST00000324727.4	-	2	226	c.80T>C	c.(79-81)gTa>gCa	p.V27A	SCN4B_ENST00000423160.2_5'Flank|SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	27					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.V27A(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGACAGGGTTACGGGGAGCAG	0.602											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V27A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T80C	11						.						102.0	89.0	93.0					11																	118015926		2200	4296	6496	117521136	SO:0001583	missense	6330	exon2			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.80T>C	11.37:g.118015926A>G	ENSP00000322460:p.Val27Ala	Somatic	1485	Capture	Illumina HiSeq	Phase_I	117521136	NM_174934	E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	A	5.037	0.192534	0.09599	.	.	ENSG00000177098	ENST00000324727	D	0.97575	-4.44	5.26	-2.35	0.06684	Immunoglobulin-like (1);	1.912250	0.02236	N	0.065265	D	0.93436	0.7906	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.84788	0.0777	10	0.19590	T	0.45	-33.9384	6.3479	0.21359	0.4551:0.2429:0.302:0.0	.	27	Q8IWT1	SCN4B_HUMAN	A	27	ENSP00000322460:V27A	ENSP00000322460:V27A	V	-	2	0	SCN4B	117521136	0.000000	0.05858	0.020000	0.16555	0.281000	0.26958	0.787000	0.26858	-0.222000	0.09958	0.529000	0.55759	GTA		0.602	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1		
UBE4A	9354	broad.mit.edu	37	11	118263570	118263570	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118263570G>T	ENST00000431736.2	+	19	3127	c.3055G>T	c.(3055-3057)Gtc>Ttc	p.V1019F	UBE4A_ENST00000252108.3_Missense_Mutation_p.V1012F|UBE4A_ENST00000545354.1_Missense_Mutation_p.V484F					ubiquitination factor E4A									p.V1019F(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATCTTCCAGAGTCACTGTGGA	0.443																																					p.V1019F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3055T	11						.						177.0	162.0	167.0					11																	118263570		2200	4296	6496	117768780	SO:0001583	missense	9354	exon19			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3055G>T	11.37:g.118263570G>T	ENSP00000387362:p.Val1019Phe	Somatic		Capture	Illumina HiSeq	Phase_I	117768780	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453503	0.96223	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.54479	0.58;0.57	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.121832	0.56097	D	0.000035	T	0.70692	0.3253	L	0.58669	1.825	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.74023	0.982;0.851	T	0.66480	-0.5913	10	0.41790	T	0.15	-19.085	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1012;1019	Q14139;Q14139-2	UBE4A_HUMAN;.	F	1012;1019;484	ENSP00000252108:V1012F;ENSP00000387362:V1019F	ENSP00000252108:V1012F	V	+	1	0	UBE4A	117768780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTC		0.443	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
KMT2A	4297	broad.mit.edu	37	11	118343475	118343475	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118343475C>T	ENST00000389506.5	+	3	1601	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	KMT2A_ENST00000354520.4_Missense_Mutation_p.S534L|KMT2A_ENST00000534358.1_Missense_Mutation_p.S534L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	534					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S534L(1)									TATTCAGTGTCGGAGAGAAGT	0.502																																					p.S534L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1601T	11						.						83.0	86.0	85.0					11																	118343475		2200	4296	6496	117848685	SO:0001583	missense	4297	exon3			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1601C>T	11.37:g.118343475C>T	ENSP00000374157:p.Ser534Leu	Somatic		Capture	Illumina HiSeq	Phase_I	117848685	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817080	0.16607	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.83673	-1.74;3.35;-1.75;-1.7	4.89	4.89	0.63831	.	0.351730	0.27155	N	0.020677	T	0.67859	0.2938	N	0.14661	0.345	0.21802	N	0.999532	B;B;B	0.33857	0.273;0.273;0.429	B;B;B	0.22753	0.041;0.041;0.028	T	0.64343	-0.6430	10	0.48119	T	0.1	.	14.092	0.64998	0.0:0.8494:0.1506:0.0	.	534;534;567	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	L	534;567;534;534	ENSP00000436786:S534L;ENSP00000432391:S567L;ENSP00000374157:S534L;ENSP00000346516:S534L	ENSP00000346516:S534L	S	+	2	0	MLL	117848685	0.999000	0.42202	0.920000	0.36463	0.975000	0.68041	4.632000	0.61311	2.437000	0.82529	0.491000	0.48974	TCG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118347543	118347543	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118347543G>T	ENST00000389506.5	+	4	3180	c.3180G>T	c.(3178-3180)gaG>gaT	p.E1060D	KMT2A_ENST00000354520.4_Missense_Mutation_p.E1060D|KMT2A_ENST00000534358.1_Missense_Mutation_p.E1060D			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1060					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E1060D(1)									ACTCATCAGAGACCTCTGTGC	0.453																																					p.E1060D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3180T	11						.						105.0	102.0	103.0					11																	118347543		2200	4296	6496	117852753	SO:0001583	missense	4297	exon4			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3180G>T	11.37:g.118347543G>T	ENSP00000374157:p.Glu1060Asp	Somatic		Capture	Illumina HiSeq	Phase_I	117852753	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796972	0.70567	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000533790;ENST00000389507	D;T;D;D	0.84370	-1.84;1.89;-1.84;-1.8	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	L	0.49350	1.555	0.58432	D	0.999997	D;D	0.69078	0.982;0.997	D;D	0.72625	0.952;0.978	D	0.88712	0.3223	10	0.54805	T	0.06	.	10.926	0.47191	0.1635:0.0:0.8365:0.0	.	1060;1060	E9PQG7;Q03164	.;MLL1_HUMAN	D	1060;1093;1060;1060;138;80	ENSP00000436786:E1060D;ENSP00000432391:E1093D;ENSP00000374157:E1060D;ENSP00000346516:E1060D	ENSP00000346516:E1060D	E	+	3	2	MLL	117852753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.053000	0.64269	1.450000	0.47717	0.655000	0.94253	GAG		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118369218	118369218	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118369218G>A	ENST00000389506.5	+	22	5927	c.5927G>A	c.(5926-5928)cGa>cAa	p.R1976Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.R1938Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.R1979Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1976					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1976Q(1)									TATTGCCAACGACATCGGGAT	0.393																																					p.R1979Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5936A	11						.						146.0	153.0	151.0					11																	118369218		2200	4296	6496	117874428	SO:0001583	missense	4297	exon22			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5927G>A	11.37:g.118369218G>A	ENSP00000374157:p.Arg1976Gln	Somatic		Capture	Illumina HiSeq	Phase_I	117874428	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810297	0.70797	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.70399	-0.48;-0.48;-0.48	5.91	5.91	0.95273	Zinc finger, PHD-type (1);	0.065268	0.64402	D	0.000012	T	0.64416	0.2596	N	0.04686	-0.185	0.41921	D	0.990514	D;D	0.69078	0.997;0.985	P;P	0.57960	0.83;0.593	T	0.70073	-0.4972	10	0.51188	T	0.08	.	13.4901	0.61390	0.0711:0.0:0.9289:0.0	.	1979;1976	E9PQG7;Q03164	.;MLL1_HUMAN	Q	1979;1976;1938;886	ENSP00000436786:R1979Q;ENSP00000374157:R1976Q;ENSP00000346516:R1938Q	ENSP00000346516:R1938Q	R	+	2	0	MLL	117874428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.616000	0.61197	2.802000	0.96397	0.655000	0.94253	CGA		0.393	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118373660	118373660	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118373660C>T	ENST00000389506.5	+	27	7044	c.7044C>T	c.(7042-7044)atC>atT	p.I2348I	KMT2A_ENST00000354520.4_Silent_p.I2310I|KMT2A_ENST00000534358.1_Silent_p.I2351I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2348					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.I2348I(1)									TTAGTAAAATCGGCTCCTTTG	0.473																																					p.I2351I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7053T	11						.						116.0	125.0	122.0					11																	118373660		2200	4296	6496	117878870	SO:0001819	synonymous_variant	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7044C>T	11.37:g.118373660C>T		Somatic		Capture	Illumina HiSeq	Phase_I	117878870	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118374605	118374605	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118374605A>G	ENST00000389506.5	+	27	7989	c.7989A>G	c.(7987-7989)ggA>ggG	p.G2663G	KMT2A_ENST00000354520.4_Silent_p.G2625G|KMT2A_ENST00000534358.1_Silent_p.G2666G			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2663					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G2663G(1)									CAGCTGAAGGACAGGTGGATG	0.468																																					p.G2666G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7998G	11						.						88.0	78.0	81.0					11																	118374605		2200	4296	6496	117879815	SO:0001819	synonymous_variant	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7989A>G	11.37:g.118374605A>G		Somatic		Capture	Illumina HiSeq	Phase_I	117879815	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118376958	118376958	+	Missense_Mutation	SNP	G	G	A	rs139366882		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118376958G>A	ENST00000389506.5	+	27	10342	c.10342G>A	c.(10342-10344)Gaa>Aaa	p.E3448K	KMT2A_ENST00000354520.4_Missense_Mutation_p.E3410K|KMT2A_ENST00000534358.1_Missense_Mutation_p.E3451K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3448					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E3448K(1)									GGAAGCAGACGAACACTATCA	0.537																																					p.E3451K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10351A	11						.	G	LYS/GLU,LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	109.0	94.0	99.0		10351,10342	6.1	1.0	11	dbSNP_134	99	0,8590		0,0,4295	no	missense,missense	MLL	NM_001197104.1,NM_005933.3	56,56	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	3451/3973,3448/3970	118376958	1,12989	2200	4295	6495	117882168	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10342G>A	11.37:g.118376958G>A	ENSP00000374157:p.Glu3448Lys	Somatic		Capture	Illumina HiSeq	Phase_I	117882168	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803163	0.50315	2.27E-4	0.0	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81415	-1.49;-1.49;-1.45	6.08	6.08	0.98989	.	0.233338	0.43260	D	0.000590	T	0.58963	0.2159	N	0.08118	0	0.38344	D	0.944164	P;P	0.37158	0.585;0.585	B;B	0.19666	0.026;0.026	T	0.64748	-0.6334	10	0.21540	T	0.41	.	15.3963	0.74798	0.0:0.0:0.8608:0.1392	.	3451;3448	E9PQG7;Q03164	.;MLL1_HUMAN	K	3451;3448;3410;2358	ENSP00000436786:E3451K;ENSP00000374157:E3448K;ENSP00000346516:E3410K	ENSP00000346516:E3410K	E	+	1	0	MLL	117882168	0.992000	0.36948	0.988000	0.46212	0.950000	0.60333	5.306000	0.65756	2.894000	0.99253	0.591000	0.81541	GAA		0.537	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118377343	118377343	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118377343C>T	ENST00000389506.5	+	27	10727	c.10727C>T	c.(10726-10728)tCc>tTc	p.S3576F	KMT2A_ENST00000354520.4_Missense_Mutation_p.S3538F|KMT2A_ENST00000534358.1_Missense_Mutation_p.S3579F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3576					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S3576F(1)									GAAACGACATCCCTGACCTCA	0.488																																					p.S3579F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10736T	11						.						87.0	85.0	86.0					11																	118377343		2200	4295	6495	117882553	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10727C>T	11.37:g.118377343C>T	ENSP00000374157:p.Ser3576Phe	Somatic		Capture	Illumina HiSeq	Phase_I	117882553	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214458	0.39102	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82167	-1.58;-1.58;-1.55	5.85	5.85	0.93711	.	0.960915	0.08726	N	0.902759	T	0.80177	0.4575	N	0.22421	0.69	0.43830	D	0.996408	B;B	0.31009	0.303;0.303	B;B	0.33890	0.172;0.172	T	0.71507	-0.4572	10	0.62326	D	0.03	.	20.1663	0.98152	0.0:1.0:0.0:0.0	.	3579;3576	E9PQG7;Q03164	.;MLL1_HUMAN	F	3579;3576;3538;2486	ENSP00000436786:S3579F;ENSP00000374157:S3576F;ENSP00000346516:S3538F	ENSP00000346516:S3538F	S	+	2	0	MLL	117882553	0.983000	0.35010	0.469000	0.27204	0.945000	0.59286	4.620000	0.61226	2.773000	0.95371	0.585000	0.79938	TCC		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
TREH	11181	broad.mit.edu	37	11	118531884	118531884	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118531884G>T	ENST00000529101.1	-	8	887	c.842C>A	c.(841-843)cCt>cAt	p.P281H	TREH_ENST00000264029.4_Missense_Mutation_p.P281H|TREH_ENST00000397925.1_Missense_Mutation_p.P250H|TREH_ENST00000530256.1_Missense_Mutation_p.P158H|TREH_ENST00000525958.1_Missense_Mutation_p.P250H			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	281					carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)	p.P281H(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TCCCCCATAAGGGACATAATA	0.522																																					p.P281H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C842A	11						.						61.0	64.0	63.0					11																	118531884		1936	4134	6070	118037094	SO:0001583	missense	11181	exon8			AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"""alpha,alpha-trehalase"", ""alpha,alpha-trehalose glucohydrolase"""	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.842C>A	11.37:g.118531884G>T	ENSP00000435095:p.Pro281His	Somatic		Capture	Illumina HiSeq	Phase_I	118037094	NM_007180	Q32MB9|Q53FY8	Missense_Mutation	SNP	ENST00000529101.1	37		.	.	.	.	.	.	.	.	.	.	G	15.13	2.741801	0.49151	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.77	4.85	0.62838	Six-hairpin glycosidase-like (1);	0.130310	0.56097	D	0.000038	T	0.47948	0.1473	.	.	.	0.40548	D	0.981097	D;B;B	0.76494	0.999;0.148;0.056	D;B;B	0.72982	0.979;0.179;0.179	T	0.48647	-0.9017	9	0.42905	T	0.14	-9.9523	12.7396	0.57243	0.078:0.0:0.922:0.0	.	250;158;281	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	H	281;158;281;158;250;250	ENSP00000435095:P281H;ENSP00000432640:P158H;ENSP00000264029:P281H;ENSP00000432853:P250H;ENSP00000381020:P250H	ENSP00000264029:P281H	P	-	2	0	TREH	118037094	0.998000	0.40836	0.975000	0.42487	0.848000	0.48234	1.543000	0.36147	1.569000	0.49696	0.655000	0.94253	CCT		0.522	TREH-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000389639.1	NM_007180	
CXCR5	643	broad.mit.edu	37	11	118764338	118764338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118764338G>A	ENST00000292174.4	+	2	261	c.85G>A	c.(85-87)Gac>Aac	p.D29N		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	29					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)	p.D29N(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CAACTATAACGACACCTCCCT	0.572																																					p.D29N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G85A	11						.						78.0	74.0	75.0					11																	118764338		2200	4295	6495	118269548	SO:0001583	missense	643	exon2			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.85G>A	11.37:g.118764338G>A	ENSP00000292174:p.Asp29Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118269548	NM_001716	Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328095	0.24080	.	.	ENSG00000160683	ENST00000292174	T	0.36878	1.23	4.11	2.03	0.26663	.	0.980889	0.08245	U	0.975579	T	0.21509	0.0518	L	0.32530	0.975	0.09310	N	1	B	0.25048	0.117	B	0.14023	0.01	T	0.26224	-1.0109	10	0.17369	T	0.5	.	2.226	0.03984	0.3802:0.0:0.3879:0.2319	.	29	P32302	CXCR5_HUMAN	N	29	ENSP00000292174:D29N	ENSP00000292174:D29N	D	+	1	0	CXCR5	118269548	0.295000	0.24389	0.003000	0.11579	0.016000	0.09150	3.254000	0.51477	0.926000	0.37118	0.491000	0.48974	GAC		0.572	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716	
VPS11	55823	broad.mit.edu	37	11	118944524	118944524	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118944524G>T	ENST00000300793.6	+	8	1140	c.1098G>T	c.(1096-1098)aaG>aaT	p.K366N	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	367					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.K366N(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGTTTAAGAAGAACCTATTTG	0.453																																					p.R367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100T	11						.						94.0	85.0	88.0					11																	118944524		1885	4108	5993	118449734	SO:0001583	missense	55823	exon7			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1098G>T	11.37:g.118944524G>T	ENSP00000475301:p.Lys366Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118449734	NM_021729	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.453	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729	
DPAGT1	1798	broad.mit.edu	37	11	118971500	118971500	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118971500G>A	ENST00000409993.2	-	5	1887	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.G112G|DPAGT1_ENST00000432443.2_Silent_p.G5G			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	112					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.G112G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CATCCGCAAAGCCCAGGAAGA	0.562											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G112G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	11						.						71.0	64.0	66.0					11																	118971500		2200	4295	6495	118476710	SO:0001819	synonymous_variant	1798	exon3			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.336C>T	11.37:g.118971500G>A		Somatic	1492	Capture	Illumina HiSeq	Phase_I	118476710	NM_001382	O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	CCDS8411.1																																																																																				0.562	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
CBL	867	broad.mit.edu	37	11	119149291	119149291	+	Silent	SNP	G	G	A	rs199633558	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:119149291G>A	ENST00000264033.4	+	9	1675	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	433	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P433P(1)|p.I429_F434del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGGTAGATCCGTTTGATCCTA	0.478			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				G|||	7	0.00139776	0.0	0.0	5008	,	,		18657	0.0		0.0	False		,,,				2504	0.0072				p.P433P			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	3	Deletion - In frame(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G1299A	11						.						115.0	111.0	113.0					11																	119149291		2199	4295	6494	118654501	SO:0001819	synonymous_variant	867	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1299G>A	11.37:g.119149291G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118654501	NM_005188	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				0.478	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
CBL	867	broad.mit.edu	37	11	119156011	119156011	+	Missense_Mutation	SNP	G	G	A	rs143034856		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:119156011G>A	ENST00000264033.4	+	11	2052	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	559	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R559Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCAGAATCCCGACCTCAAAGA	0.577			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R559Q			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1676A	11						.	G	GLN/ARG	1,4397	2.1+/-5.4	0,1,2198	87.0	81.0	83.0		1676	5.4	0.9	11	dbSNP_134	83	1,8589	1.2+/-3.3	0,1,4294	no	missense	CBL	NM_005188.2	43	0,2,6492	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	559/907	119156011	2,12986	2199	4295	6494	118661221	SO:0001583	missense	867	exon11	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1676G>A	11.37:g.119156011G>A	ENSP00000264033:p.Arg559Gln	Somatic	1494	Capture	Illumina HiSeq	Phase_I	118661221	NM_005188	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779910	0.70222	2.27E-4	1.16E-4	ENSG00000110395	ENST00000264033	T	0.80738	-1.41	5.44	5.44	0.79542	.	0.319241	0.32655	N	0.005807	D	0.86460	0.5938	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	P	0.55545	0.778	D	0.85473	0.1174	10	0.42905	T	0.14	-17.1834	19.4568	0.94895	0.0:0.0:1.0:0.0	.	559	P22681	CBL_HUMAN	Q	559	ENSP00000264033:R559Q	ENSP00000264033:R559Q	R	+	2	0	CBL	118661221	1.000000	0.71417	0.922000	0.36590	0.337000	0.28794	8.879000	0.92398	2.832000	0.97577	0.655000	0.94253	CGA		0.577	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
ARHGEF12	23365	broad.mit.edu	37	11	120317752	120317752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120317752G>A	ENST00000397843.2	+	18	1713	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R413Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R497Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	516	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R516Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGAAGGAGCGGACATGTGCA	0.438			T	MLL	AML																																p.R497Q			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1490A	11						.						145.0	137.0	139.0					11																	120317752		1977	4166	6143	119822962	SO:0001583	missense	23365	exon17			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1547G>A	11.37:g.120317752G>A	ENSP00000380942:p.Arg516Gln	Somatic		Capture	Illumina HiSeq	Phase_I	119822962	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	36	5.894309	0.97074	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.86432	-2.12;-2.12;-2.12	5.44	5.44	0.79542	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.41712	D	0.000826	D	0.93488	0.7922	M	0.78801	2.425	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75020	0.985;0.95;0.97	D	0.92706	0.6179	10	0.45353	T	0.12	-16.6389	19.6363	0.95735	0.0:0.0:1.0:0.0	.	413;497;516	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Q	516;497;413	ENSP00000380942:R516Q;ENSP00000349056:R497Q;ENSP00000432984:R413Q	ENSP00000349056:R497Q	R	+	2	0	ARHGEF12	119822962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.314000	0.96306	2.714000	0.92807	0.650000	0.86243	CGG		0.438	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
ARHGEF12	23365	broad.mit.edu	37	11	120319829	120319829	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120319829G>T	ENST00000397843.2	+	21	1915	c.1749G>T	c.(1747-1749)aaG>aaT	p.K583N	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K480N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K564N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	583					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K583N(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAAGTATGAAGAAAGATAAAG	0.403			T	MLL	AML																																p.K564N			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1692T	11						.						46.0	47.0	47.0					11																	120319829		1837	4077	5914	119825039	SO:0001583	missense	23365	exon20			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1749G>T	11.37:g.120319829G>T	ENSP00000380942:p.Lys583Asn	Somatic		Capture	Illumina HiSeq	Phase_I	119825039	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690194	0.88735	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.77750	-1.02;-1.12;-0.99	5.09	5.09	0.68999	.	0.000000	0.48286	D	0.000195	D	0.87716	0.6247	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.993	D	0.88419	0.3027	10	0.56958	D	0.05	-15.2684	18.5375	0.91015	0.0:0.0:1.0:0.0	.	480;564;583	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	N	583;564;480	ENSP00000380942:K583N;ENSP00000349056:K564N;ENSP00000432984:K480N	ENSP00000349056:K564N	K	+	3	2	ARHGEF12	119825039	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.048000	0.57390	2.372000	0.80975	0.456000	0.33151	AAG		0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
ARHGEF12	23365	broad.mit.edu	37	11	120327943	120327943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120327943G>T	ENST00000397843.2	+	23	2339	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.E622*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.E706*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	725					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E725*(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCAGGAGGAGGAATGTGAAGT	0.398			T	MLL	AML																																p.E706X			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2116T	11						.						121.0	112.0	115.0					11																	120327943		1903	4120	6023	119833153	SO:0001587	stop_gained	23365	exon22			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2173G>T	11.37:g.120327943G>T	ENSP00000380942:p.Glu725*	Somatic		Capture	Illumina HiSeq	Phase_I	119833153	NM_001198665	O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	44	10.899163	0.99485	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.97	5.97	0.96955	.	0.124989	0.35739	N	0.003014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-8.0768	18.6044	0.91261	0.0:0.0:1.0:0.0	.	.	.	.	X	725;706;622	.	ENSP00000349056:E706X	E	+	1	0	ARHGEF12	119833153	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.155000	0.77445	2.828000	0.97474	0.655000	0.94253	GAA		0.398	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
ARHGEF12	23365	broad.mit.edu	37	11	120347411	120347411	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120347411G>A	ENST00000397843.2	+	34	3485	c.3319G>A	c.(3319-3321)Gct>Act	p.A1107T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A1004T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A1088T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1107T(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGACAATGGCGCTCAGATTTA	0.393			T	MLL	AML																																p.A1088T			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3262A	11						.						121.0	115.0	116.0					11																	120347411		1859	4114	5973	119852621	SO:0001583	missense	23365	exon33			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3319G>A	11.37:g.120347411G>A	ENSP00000380942:p.Ala1107Thr	Somatic		Capture	Illumina HiSeq	Phase_I	119852621	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379127	0.95945	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.64438	-0.1;-0.1;-0.1	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.39759	U	0.001270	T	0.78477	0.4289	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.964;1.0;1.0	B;D;D	0.76575	0.38;0.988;0.973	T	0.80079	-0.1532	10	0.62326	D	0.03	-9.3965	18.8774	0.92343	0.0:0.0:1.0:0.0	.	1004;1088;1107	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1107;1088;1004	ENSP00000380942:A1107T;ENSP00000349056:A1088T;ENSP00000432984:A1004T	ENSP00000349056:A1088T	A	+	1	0	ARHGEF12	119852621	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.432000	0.80349	2.510000	0.84645	0.563000	0.77884	GCT		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
GRIK4	2900	broad.mit.edu	37	11	120831715	120831715	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120831715G>T	ENST00000527524.2	+	17	2259	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.D658Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	658					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D658Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTCAGTGGATGACCTGGCTGA	0.547																																					p.D658Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1972T	11						.						134.0	108.0	117.0					11																	120831715		2203	4299	6502	120336925	SO:0001583	missense	2900	exon15			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1972G>T	11.37:g.120831715G>T	ENSP00000435648:p.Asp658Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120336925	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037057	0.93630	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.20332	2.08;2.08	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77138	-0.2698	10	0.87932	D	0	.	19.0461	0.93020	0.0:0.0:1.0:0.0	.	658;658	A6H8K8;Q16099	.;GRIK4_HUMAN	Y	658	ENSP00000435648:D658Y;ENSP00000404063:D658Y	ENSP00000404063:D658Y	D	+	1	0	GRIK4	120336925	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	GAC		0.547	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TECTA	7007	broad.mit.edu	37	11	120996337	120996337	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120996337C>T	ENST00000392793.1	+	8	1801	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	TECTA_ENST00000264037.2_Silent_p.C510C			O75443	TECTA_HUMAN	tectorin alpha	510	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C510C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCACCCAGTGCGACGCTGCCA	0.622																																					p.C510C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1530T	11						.						94.0	97.0	96.0					11																	120996337		2203	4299	6502	120501547	SO:0001819	synonymous_variant	7007	exon7			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1530C>T	11.37:g.120996337C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120501547	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121059794	121059794	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:121059794C>T	ENST00000392793.1	+	22	6439	c.6168C>T	c.(6166-6168)tgC>tgT	p.C2056C	TECTA_ENST00000264037.2_Silent_p.C2056C			O75443	TECTA_HUMAN	tectorin alpha	2056	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C2056C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCAGACTTGCCCACACAATT	0.413																																					p.C2056C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6168T	11						.						109.0	97.0	101.0					11																	121059794		2203	4299	6502	120565004	SO:0001819	synonymous_variant	7007	exon21			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6168C>T	11.37:g.121059794C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120565004	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.413	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
MUC5B	727897	broad.mit.edu	37	11	1268954	1268954	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:1268954T>C	ENST00000529681.1	+	31	10902	c.10844T>C	c.(10843-10845)cTc>cCc	p.L3615P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L3618P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3615	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)		p.L3594P(1)		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)		CCCCTGGGCCTCGAGTGCCGT	0.677																																					p.L3615P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10844C	11						.						30.0	32.0	31.0					11																	1268954		1846	4023	5869	1225530	SO:0001583	missense	727897	exon31			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.10844T>C	11.37:g.1268954T>C	ENSP00000436812:p.Leu3615Pro	Somatic		Capture	Illumina HiSeq	Phase_I	1225530	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	t	10.02	1.235476	0.22626	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19250	2.16;2.16	4.0	2.86	0.33363	.	.	.	.	.	T	0.47691	0.1459	M	0.84683	2.71	0.09310	N	1	D;B	0.76494	0.999;0.45	D;B	0.91635	0.999;0.177	T	0.29397	-1.0013	9	0.87932	D	0	.	9.1317	0.36850	0.0:0.0888:0.0:0.9112	.	4143;3618	A7Y9J9;E9PBJ0	.;.	P	3615;3618;3587;3520	ENSP00000436812:L3615P;ENSP00000415793:L3618P	ENSP00000343037:L3587P	L	+	2	0	MUC5B	1225530	0.008000	0.16893	0.000000	0.03702	0.010000	0.07245	1.505000	0.35736	0.558000	0.29135	0.391000	0.25812	CTC		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BLID	414899	broad.mit.edu	37	11	121986368	121986368	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:121986368C>A	ENST00000560104.1	-	1	555	c.263G>T	c.(262-264)aGa>aTa	p.R88I		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	88					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.R88I(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		ATAGGAAGGTCTCTGAAGCAC	0.428											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	11						.						141.0	138.0	139.0					11																	121986368		2202	4299	6501	121491578	SO:0001583	missense	414899	exon1			AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.263G>T	11.37:g.121986368C>A	ENSP00000453153:p.Arg88Ile	Somatic	1515	Capture	Illumina HiSeq	Phase_I	121491578	NM_001001786	A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994158	0.54041	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	4.19	3.28	0.37604	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.28012	N	0.934876	B	0.25955	0.138	B	0.23018	0.043	T	0.18178	-1.0345	8	0.87932	D	0	.	9.6915	0.40131	0.207:0.793:0.0:0.0	.	88	Q8IZY5	BLID_HUMAN	I	88	.	ENSP00000448995:R88I	R	-	2	0	BLID;AP001924.1	121491578	0.523000	0.26274	0.462000	0.27118	0.725000	0.41563	1.162000	0.31786	1.367000	0.46095	-0.189000	0.12847	AGA		0.428	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786	
OR6T1	219874	broad.mit.edu	37	11	123814126	123814126	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:123814126G>T	ENST00000321252.2	-	1	454	c.420C>A	c.(418-420)gtC>gtA	p.V140V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V140V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTTGGGAACAGACATGGCCAT	0.567																																					p.V140V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420A	11						.						67.0	61.0	63.0					11																	123814126		2202	4299	6501	123319336	SO:0001819	synonymous_variant	219874	exon1			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.420C>A	11.37:g.123814126G>T		Somatic		Capture	Illumina HiSeq	Phase_I	123319336	NM_001005187	Q6IFE7	Silent	SNP	ENST00000321252.2	37	CCDS31700.1																																																																																				0.567	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:123847819C>T	ENST00000531945.1	-	1	669	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567																																					p.D194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	11						.						93.0	76.0	82.0					11																	123847819		2202	4299	6501	123353029	SO:0001583	missense	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.580G>A	11.37:g.123847819C>T	ENSP00000431914:p.Asp194Asn	Somatic		Capture	Illumina HiSeq	Phase_I	123353029	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111956	0.56398	.	.	ENSG00000196248	ENST00000531945	T	0.00188	8.59	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	U	0.000510	T	0.00412	0.0013	M	0.91459	3.21	0.25226	N	0.989868	D	0.58620	0.983	P	0.46208	0.507	T	0.28996	-1.0026	10	0.87932	D	0	-21.1723	13.5941	0.61979	0.0:0.9245:0.0:0.0755	.	194	Q8NGN2	O10S1_HUMAN	N	194	ENSP00000431914:D194N	ENSP00000431914:D194N	D	-	1	0	OR10S1	123353029	0.999000	0.42202	0.998000	0.56505	0.700000	0.40528	2.165000	0.42396	1.379000	0.46325	-0.127000	0.14921	GAC		0.567	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
OR10G4	390264	broad.mit.edu	37	11	123886824	123886824	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:123886824G>A	ENST00000320891.4	+	1	543	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	181			P -> S (in dbSNP:rs1893764).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181P(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGACGCACCGCCCATCCTGA	0.542																																					p.P181P												OR10G4,central_nervous_system,brain,Substitution - coding silent,0 	.	2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)	c.G543A	11						.						203.0	168.0	180.0					11																	123886824		2201	4298	6499	123392034	SO:0001819	synonymous_variant	390264	exon1			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.543G>A	11.37:g.123886824G>A		Somatic		Capture	Illumina HiSeq	Phase_I	123392034	NM_001004462	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
VWA5A	4013	broad.mit.edu	37	11	124005676	124005676	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124005676G>T	ENST00000456829.2	+	12	1545	c.1294G>T	c.(1294-1296)Ggt>Tgt	p.G432C	VWA5A_ENST00000392748.1_Missense_Mutation_p.G432C|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	432	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.G432C(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTAATAAAAGGTATTGCCCG	0.483																																					p.G432C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294T	11						.						74.0	71.0	72.0					11																	124005676		2201	4299	6500	123510886	SO:0001583	missense	4013	exon11			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1294G>T	11.37:g.124005676G>T	ENSP00000407726:p.Gly432Cys	Somatic		Capture	Illumina HiSeq	Phase_I	123510886	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767884	0.69878	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.08282	3.11;3.11	5.86	2.78	0.32641	von Willebrand factor, type A (3);	0.344315	0.34411	N	0.003984	T	0.32882	0.0844	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03077	-1.1075	10	0.66056	D	0.02	-4.3763	6.6443	0.22927	0.372:0.0:0.628:0.0	.	432	O00534	VMA5A_HUMAN	C	432	ENSP00000407726:G432C;ENSP00000376504:G432C	ENSP00000376504:G432C	G	+	1	0	VWA5A	123510886	1.000000	0.71417	0.853000	0.33588	0.964000	0.63967	4.751000	0.62169	0.265000	0.21872	0.655000	0.94253	GGT		0.483	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
Unknown	0	broad.mit.edu	37	11	124095709	124095709	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124095709C>A								OR10D3 (38757 upstream) : OR8G1 (24713 downstream)																							AGAAGAACATCATCTCCTACC	0.433																																					p.I104I												.	.	0			c.C312A	11						.						188.0	183.0	185.0					11																	124095709		2157	4296	6453	123600919	SO:0001628	intergenic_variant	26492	exon1																															11.37:g.124095709C>A		Somatic		Capture	Illumina HiSeq	Phase_I	123600919	NM_001007249		Silent	SNP		37																																																																																				0	0.433								
OR8B4	283162	broad.mit.edu	37	11	124294511	124294511	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124294511A>G	ENST00000356130.3	-	1	278	c.257T>C	c.(256-258)gTt>gCt	p.V86A		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V86A(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTTTCTGAAACAAAGTCATT	0.388																																					p.V86A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T257C	11						.						93.0	91.0	92.0					11																	124294511		2201	4299	6500	123799721	SO:0001583	missense	283162	exon1			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.257T>C	11.37:g.124294511A>G	ENSP00000348449:p.Val86Ala	Somatic		Capture	Illumina HiSeq	Phase_I	123799721	NM_001005196	B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	6.179	0.401140	0.11696	.	.	ENSG00000198657	ENST00000356130	T	0.00411	7.53	4.61	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	1.092580	0.07130	N	0.845323	T	0.00384	0.0012	L	0.50993	1.605	0.09310	N	1	P	0.39071	0.658	B	0.38327	0.271	T	0.48399	-0.9039	10	0.66056	D	0.02	.	3.8852	0.09096	0.6135:0.1839:0.2027:0.0	.	86	Q96RC9	OR8B4_HUMAN	A	86	ENSP00000348449:V86A	ENSP00000348449:V86A	V	-	2	0	OR8B4	123799721	0.063000	0.20901	0.042000	0.18584	0.149000	0.21700	3.223000	0.51231	0.864000	0.35578	0.528000	0.53228	GTT		0.388	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
OR8B8	26493	broad.mit.edu	37	11	124310898	124310898	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124310898G>A	ENST00000328064.2	-	1	156	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	28					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAACAGGAAGAAGAGGGGGA	0.502																																					p.F28F												.	.	2	Substitution - coding silent(2)	urinary_tract(1)|large_intestine(1)	c.C84T	11						.						71.0	71.0	71.0					11																	124310898		2201	4299	6500	123816108	SO:0001819	synonymous_variant	26493	exon1			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.84C>T	11.37:g.124310898G>A		Somatic		Capture	Illumina HiSeq	Phase_I	123816108	NM_012378	A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	CCDS8446.1																																																																																				0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
VSIG2	23584	broad.mit.edu	37	11	124618358	124618358	+	Missense_Mutation	SNP	G	G	A	rs183266468		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124618358G>A	ENST00000326621.5	-	6	879	c.779C>T	c.(778-780)gCg>gTg	p.A260V	VSIG2_ENST00000403470.1_Missense_Mutation_p.A260V|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	260						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A260V(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAGGCAGAACGCAGCAACTGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19052	0.001		0.0	False		,,,				2504	0.0				p.A260V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779T	11						.						106.0	94.0	98.0					11																	124618358		2201	4299	6500	124123568	SO:0001583	missense	23584	exon6			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.779C>T	11.37:g.124618358G>A	ENSP00000318684:p.Ala260Val	Somatic		Capture	Illumina HiSeq	Phase_I	124123568	NM_014312	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.270	-0.613240	0.03690	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.72835	-0.59;-0.69	5.65	-3.91	0.04168	.	0.986927	0.08264	N	0.972604	T	0.35189	0.0923	N	0.01277	-0.915	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.44251	-0.9340	10	0.02654	T	1	.	12.7396	0.57243	0.7754:0.0:0.2246:0.0	.	260	Q96IQ7	VSIG2_HUMAN	V	260	ENSP00000318684:A260V;ENSP00000385013:A260V	ENSP00000318684:A260V	A	-	2	0	VSIG2	124123568	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-1.111000	0.03303	-0.577000	0.05967	0.655000	0.94253	GCG		0.607	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312	
MSANTD2	79684	broad.mit.edu	37	11	124637883	124637883	+	Missense_Mutation	SNP	G	G	A	rs554746383		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124637883G>A	ENST00000374979.3	-	4	877	c.869C>T	c.(868-870)tCg>tTg	p.S290L	MSANTD2_ENST00000239614.4_Missense_Mutation_p.S238L|MSANTD2_ENST00000526629.1_Missense_Mutation_p.S60L|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000524950.1_3'UTR			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	290								p.S238L(1)									CAACTGTACCGATTCCAAAAT	0.383																																					p.S238L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C713T	11						.						67.0	70.0	69.0					11																	124637883		2201	4299	6500	124143093	SO:0001583	missense	79684	exon4			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.869C>T	11.37:g.124637883G>A	ENSP00000364118:p.Ser290Leu	Somatic		Capture	Illumina HiSeq	Phase_I	124143093	NM_024631	B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.291698	0.80914	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.986	T	0.71388	-0.4608	9	0.87932	D	0	-6.6995	19.3243	0.94254	0.0:0.0:1.0:0.0	.	290;238	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	L	238;290;60	.	ENSP00000239614:S238L	S	-	2	0	C11orf61	124143093	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.364000	0.79526	2.629000	0.89072	0.585000	0.79938	TCG		0.383	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631	
ROBO3	64221	broad.mit.edu	37	11	124745144	124745144	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124745144G>A	ENST00000397801.1	+	14	2403	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Silent_p.G715G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	737	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.G737G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCCTCCAGGGACCCAAATCC	0.592																																					p.G737G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2211A	11						.						73.0	74.0	73.0					11																	124745144		1924	4137	6061	124250354	SO:0001819	synonymous_variant	64221	exon14			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2211G>A	11.37:g.124745144G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124250354	NM_022370		Silent	SNP	ENST00000397801.1	37	CCDS44755.1																																																																																				0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	
ROBO3	64221	broad.mit.edu	37	11	124745870	124745870	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124745870G>T	ENST00000397801.1	+	16	2634	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.E792D	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	814	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.E814D(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGGGCAATGAGAGCCGCTTTC	0.587											OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E814D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2442T	11						.						24.0	23.0	23.0					11																	124745870		1944	4140	6084	124251080	SO:0001583	missense	64221	exon16			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2442G>T	11.37:g.124745870G>T	ENSP00000380903:p.Glu814Asp	Somatic	1536	Capture	Illumina HiSeq	Phase_I	124251080	NM_022370		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923831	0.52653	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.51817	0.69;0.69	4.74	-3.92	0.04155	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.169681	0.27627	N	0.018537	T	0.26448	0.0646	L	0.31420	0.93	0.80722	D	1	B	0.14805	0.011	B	0.30782	0.12	T	0.03483	-1.1032	10	0.19590	T	0.45	.	2.9684	0.05915	0.1738:0.3615:0.3416:0.1231	.	814	Q96MS0	ROBO3_HUMAN	D	814;792	ENSP00000380903:E814D;ENSP00000441797:E792D	ENSP00000380903:E814D	E	+	3	2	ROBO3	124251080	0.365000	0.25006	0.744000	0.31058	0.989000	0.77384	0.056000	0.14256	-0.355000	0.08199	0.563000	0.77884	GAG		0.587	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	
HEPACAM	220296	broad.mit.edu	37	11	124793897	124793897	+	Missense_Mutation	SNP	G	G	A	rs542132168		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124793897G>A	ENST00000298251.4	-	3	842	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule									p.S146L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGGCCTCGAAATGGGCAC	0.552																																					p.S146L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437T	11						.						34.0	30.0	31.0					11																	124793897		2201	4299	6500	124299107	SO:0001583	missense	220296	exon3			AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.437C>T	11.37:g.124793897G>A	ENSP00000298251:p.Ser146Leu	Somatic		Capture	Illumina HiSeq	Phase_I	124299107	NM_152722		Missense_Mutation	SNP	ENST00000298251.4	37	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913924	0.92178	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.53423	0.62	5.66	5.66	0.87406	.	0.116985	0.64402	D	0.000010	T	0.63510	0.2517	M	0.76002	2.32	0.80722	D	1	D;D	0.65815	0.989;0.995	P;P	0.52514	0.701;0.458	T	0.67597	-0.5630	10	0.72032	D	0.01	-3.8489	19.7347	0.96198	0.0:0.0:1.0:0.0	.	146;146	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	L	146	ENSP00000298251:S146L	ENSP00000298251:S146L	S	-	2	0	HEPACAM	124299107	1.000000	0.71417	0.926000	0.36857	0.834000	0.47266	9.609000	0.98334	2.671000	0.90904	0.650000	0.86243	TCG		0.552	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722	
CCDC15	80071	broad.mit.edu	37	11	124875094	124875094	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124875094G>T	ENST00000344762.5	+	13	2656	c.2397G>T	c.(2395-2397)aaG>aaT	p.K799N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K799N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	799						centrosome (GO:0005813)		p.K799N(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAGAACAAAAGAAGAAAATTG	0.333																																					p.K799N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2397T	11						.						38.0	32.0	34.0					11																	124875094		1818	4078	5896	124380304	SO:0001583	missense	80071	exon13			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2397G>T	11.37:g.124875094G>T	ENSP00000341684:p.Lys799Asn	Somatic		Capture	Illumina HiSeq	Phase_I	124380304	NM_025004	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581991	0.46006	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.33216	1.42;1.42	5.42	3.55	0.40652	.	0.373259	0.19567	N	0.111182	T	0.32852	0.0843	L	0.40543	1.245	0.27911	N	0.938615	D	0.53462	0.96	P	0.51229	0.663	T	0.09530	-1.0670	10	0.52906	T	0.07	-4.8175	9.1278	0.36826	0.2395:0.0:0.7605:0.0	.	799	Q0P6D6	CCD15_HUMAN	N	799	ENSP00000435403:K799N;ENSP00000341684:K799N	ENSP00000341684:K799N	K	+	3	2	CCDC15	124380304	0.952000	0.32445	0.616000	0.29078	0.821000	0.46438	0.879000	0.28146	0.759000	0.33084	0.655000	0.94253	AAG		0.333	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
ACRV1	56	broad.mit.edu	37	11	125542516	125542516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125542516C>T	ENST00000533904.1	-	4	1112	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	ACRV1_ENST00000527795.1_Missense_Mutation_p.R187Q|ACRV1_ENST00000453509.1_Missense_Mutation_p.R168Q|ACRV1_ENST00000425431.1_Missense_Mutation_p.R113Q|ACRV1_ENST00000530048.1_Missense_Mutation_p.R202Q|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000353070.1_Missense_Mutation_p.R73Q|ACRV1_ENST00000348856.3_Missense_Mutation_p.R157Q|ACRV1_ENST00000345274.1_Missense_Mutation_p.R147Q|ACRV1_ENST00000315608.3_Missense_Mutation_p.R238Q|ACRV1_ENST00000445562.1_Missense_Mutation_p.R162Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	257					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.R257Q(1)		kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGATTGATTTCGACAGCATAT	0.423																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	11						.						176.0	157.0	163.0					11																	125542516		2201	4299	6500	125047726	SO:0001583	missense	56	exon3			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.770G>A	11.37:g.125542516C>T	ENSP00000432816:p.Arg257Gln	Somatic		Capture	Illumina HiSeq	Phase_I	125047726	NM_020115	Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505327	0.64410	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.26	2.41	0.29592	.	0.216731	0.26518	N	0.023923	T	0.44623	0.1302	M	0.73598	2.24	0.24736	N	0.993067	D;D;D;B;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.201;1.0;1.0;0.999;1.0;0.999	D;D;D;B;D;D;D;D;P	0.91635	0.998;0.992;0.999;0.034;0.998;0.999;0.951;0.997;0.901	T	0.14811	-1.0459	10	0.49607	T	0.09	-4.3142	6.7758	0.23619	0.0:0.7917:0.0:0.2083	.	257;238;147;73;162;202;113;187;168	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	Q	257;238;202;187;168;162;157;147;113;73;238;202;187	ENSP00000432816:R257Q;ENSP00000407846:R238Q;ENSP00000257382:R202Q;ENSP00000411583:R187Q;ENSP00000397448:R168Q;ENSP00000412653:R162Q;ENSP00000257385:R157Q;ENSP00000257383:R147Q;ENSP00000395453:R113Q;ENSP00000257386:R73Q;ENSP00000317684:R238Q;ENSP00000433720:R202Q;ENSP00000436819:R187Q	ENSP00000257382:R202Q	R	-	2	0	ACRV1	125047726	0.471000	0.25862	0.508000	0.27688	0.865000	0.49528	0.262000	0.18460	0.762000	0.33152	0.643000	0.83706	CGA		0.423	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612	
PUS3	83480	broad.mit.edu	37	11	125763900	125763900	+	Missense_Mutation	SNP	C	C	T	rs201659793		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125763900C>T	ENST00000530811.1	-	3	1271	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.R409H|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R409H(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CTTATATGTGCGCATCTTCAC	0.473																																					p.R409H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1226A	11						.						203.0	191.0	195.0					11																	125763900		2201	4299	6500	125269110	SO:0001583	missense	83480	exon4			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1226G>A	11.37:g.125763900C>T	ENSP00000432386:p.Arg409His	Somatic		Capture	Illumina HiSeq	Phase_I	125269110	NM_031307	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472489	0.84640	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.35421	1.31;1.31	5.41	4.49	0.54785	.	0.107907	0.64402	D	0.000013	T	0.48660	0.1512	M	0.75777	2.31	0.44523	D	0.99747	D	0.64830	0.994	P	0.49561	0.615	T	0.56631	-0.7947	10	0.62326	D	0.03	-1.381	15.0019	0.71479	0.0:0.8563:0.1437:0.0	.	409	Q9BZE2	PUS3_HUMAN	H	409	ENSP00000227474:R409H;ENSP00000432386:R409H	ENSP00000227474:R409H	R	-	2	0	PUS3	125269110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.947000	0.70242	1.252000	0.44001	0.591000	0.81541	CGC		0.473	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307	
HYLS1	219844	broad.mit.edu	37	11	125769558	125769558	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125769558C>A	ENST00000425380.2	+	3	1076	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	HYLS1_ENST00000526028.1_Missense_Mutation_p.L99M|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Missense_Mutation_p.L99M	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	99						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L99M(1)		breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GAGAAAGGTGCTGCGCAGAAA	0.448																																					p.L99M	Esophageal Squamous(172;2590 2636 8884 10471)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295A	11						.						74.0	78.0	77.0					11																	125769558		2201	4299	6500	125274768	SO:0001583	missense	219844	exon4			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.295C>A	11.37:g.125769558C>A	ENSP00000414884:p.Leu99Met	Somatic		Capture	Illumina HiSeq	Phase_I	125274768	NM_145014	B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068872	0.55539	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.71934	-0.61;-0.61;-0.61	5.65	4.71	0.59529	.	0.000000	0.51477	D	0.000086	T	0.78059	0.4224	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78484	-0.2186	10	0.56958	D	0.05	.	9.5368	0.39226	0.0:0.836:0.0:0.164	.	99	Q96M11	HYLS1_HUMAN	M	99	ENSP00000348815:L99M;ENSP00000414884:L99M;ENSP00000436833:L99M	ENSP00000348815:L99M	L	+	1	2	HYLS1	125274768	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.010000	0.29898	1.560000	0.49568	0.655000	0.94253	CTG		0.448	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014	
HYLS1	219844	broad.mit.edu	37	11	125769852	125769852	+	Missense_Mutation	SNP	C	C	T	rs192439596	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125769852C>T	ENST00000425380.2	+	3	1370	c.589C>T	c.(589-591)Ctc>Ttc	p.L197F	HYLS1_ENST00000526028.1_Missense_Mutation_p.L197F|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Missense_Mutation_p.L197F	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	197						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L197F(1)		breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GTCCTTTATTCTCCCAAAGCT	0.498													C|||	2	0.000399361	0.0	0.0	5008	,	,		18508	0.002		0.0	False		,,,				2504	0.0				p.L197F	Esophageal Squamous(172;2590 2636 8884 10471)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589T	11						.						71.0	73.0	73.0					11																	125769852		2201	4299	6500	125275062	SO:0001583	missense	219844	exon4			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.589C>T	11.37:g.125769852C>T	ENSP00000414884:p.Leu197Phe	Somatic		Capture	Illumina HiSeq	Phase_I	125275062	NM_145014	B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.65	3.867714	0.72065	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.76968	-1.06;-1.06;-1.06	5.49	5.49	0.81192	.	0.188452	0.34110	N	0.004246	D	0.85212	0.5645	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.82918	-0.0219	10	0.38643	T	0.18	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	197	Q96M11	HYLS1_HUMAN	F	197	ENSP00000348815:L197F;ENSP00000414884:L197F;ENSP00000436833:L197F	ENSP00000348815:L197F	L	+	1	0	HYLS1	125275062	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	3.352000	0.52239	2.865000	0.98341	0.655000	0.94253	CTC		0.498	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014	
DDX25	29118	broad.mit.edu	37	11	125792764	125792764	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125792764G>T	ENST00000263576.6	+	12	1595	c.1440G>T	c.(1438-1440)aaG>aaT	p.K480N	RP11-680F20.9_ENST00000526211.1_RNA|DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	480					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.K366N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AAATTGAAAAGATTGACTATT	0.348											OREG0021479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K480N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1440T	11						.						136.0	127.0	130.0					11																	125792764		1864	4101	5965	125297974	SO:0001583	missense	29118	exon12			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1440G>T	11.37:g.125792764G>T	ENSP00000263576:p.Lys480Asn	Somatic	1544	Capture	Illumina HiSeq	Phase_I	125297974	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536150	0.27475	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.03330	3.97	5.42	2.51	0.30379	.	0.534890	0.18850	N	0.129430	T	0.05410	0.0143	M	0.72576	2.205	0.37882	D	0.930418	B	0.06786	0.001	B	0.06405	0.002	T	0.14254	-1.0479	10	0.59425	D	0.04	-18.8315	5.4301	0.16448	0.1487:0.0:0.5665:0.2849	.	480	Q9UHL0	DDX25_HUMAN	N	366;480;346	ENSP00000263576:K480N	ENSP00000263576:K480N	K	+	3	2	DDX25	125297974	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.361000	0.34136	0.262000	0.21774	0.561000	0.74099	AAG		0.348	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264	
CDON	50937	broad.mit.edu	37	11	125885334	125885334	+	Missense_Mutation	SNP	C	C	T	rs571859031		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125885334C>T	ENST00000392693.3	-	7	1127	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	CDON_ENST00000263577.7_Missense_Mutation_p.D334N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	334	Ig-like C2-type 4.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D334N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCATGAACGTCGCAGGTAAAG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18869	0.0		0.0	False		,,,				2504	0.001				p.D334N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	11						.						89.0	76.0	80.0					11																	125885334		2201	4299	6500	125390544	SO:0001583	missense	50937	exon7			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1000G>A	11.37:g.125885334C>T	ENSP00000376458:p.Asp334Asn	Somatic		Capture	Illumina HiSeq	Phase_I	125390544	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.027|8.027	0.761010|0.761010	0.15914|0.15914	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577|ENST00000534661	T;T|.	0.66638|.	-0.22;-0.22|.	5.58|5.58	3.28|3.28	0.37604|0.37604	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.181070|.	0.06279|.	N|.	0.697060|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.17345|0.17345	0.48|0.48	0.09310|0.09310	N|N	1|1	B;B|.	0.14012|.	0.009;0.007|.	B;B|.	0.12156|.	0.007;0.002|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.27785|.	T|.	0.31|.	-5.626|-5.626	12.0513|12.0513	0.53507|0.53507	0.0:0.7689:0.0:0.2311|0.0:0.7689:0.0:0.2311	.|.	334;334|.	Q4KMG0;Q4KMG0-2|.	CDON_HUMAN;.|.	N|Q	334|309	ENSP00000376458:D334N;ENSP00000263577:D334N|.	ENSP00000263577:D334N|.	D|R	-|-	1|2	0|0	CDON|CDON	125390544|125390544	0.401000|0.401000	0.25303|0.25303	0.418000|0.418000	0.26571|0.26571	0.087000|0.087000	0.18053|0.18053	2.089000|2.089000	0.41672|0.41672	1.274000|1.274000	0.44362|0.44362	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.443	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
FOXRED1	55572	broad.mit.edu	37	11	126141374	126141374	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:126141374C>T	ENST00000263578.5	+	2	202	c.128C>T	c.(127-129)tCg>tTg	p.S43L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.S29L|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron|SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000532259.1_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	43						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.S43L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AAGATCAAGTCGATCCTGCCT	0.552																																					p.S43L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	11						.						103.0	90.0	94.0					11																	126141374		2201	4298	6499	125646584	SO:0001583	missense	55572	exon2				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.128C>T	11.37:g.126141374C>T	ENSP00000263578:p.Ser43Leu	Somatic		Capture	Illumina HiSeq	Phase_I	125646584	NM_017547	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	C	8.765	0.924421	0.18056	.	.	ENSG00000110074	ENST00000263578;ENST00000532125	T;T	0.60040	0.22;0.23	4.69	3.75	0.43078	.	0.194860	0.34025	N	0.004324	T	0.37892	0.1020	L	0.43923	1.385	0.24736	N	0.993067	P;P	0.38280	0.625;0.491	B;B	0.27500	0.08;0.025	T	0.36866	-0.9730	10	0.42905	T	0.14	-11.2233	3.8477	0.08942	0.1646:0.5842:0.1596:0.0916	.	29;43	Q96CU9-3;Q96CU9	.;FXRD1_HUMAN	L	43;29	ENSP00000263578:S43L;ENSP00000434178:S29L	ENSP00000263578:S43L	S	+	2	0	FOXRED1	125646584	0.934000	0.31675	0.326000	0.25389	0.112000	0.19704	2.013000	0.40942	2.436000	0.82500	0.579000	0.79373	TCG		0.552	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547	
ETS1	2113	broad.mit.edu	37	11	128332364	128332364	+	Silent	SNP	C	C	T	rs200548427		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:128332364C>T	ENST00000319397.6	-	8	1527	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	ETS1_ENST00000392668.4_Silent_p.A450A|ETS1_ENST00000535549.1_Silent_p.A190A|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000345075.4_Silent_p.A319A|ETS1_ENST00000526145.2_Silent_p.A319A	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	406					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A406A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGCGTTTCCCCGCTGTCTTGT	0.527																																					p.A406A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1218A	11						.						199.0	158.0	172.0					11																	128332364		2201	4297	6498	127837574	SO:0001819	synonymous_variant	2113	exon8				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.1218G>A	11.37:g.128332364C>T		Somatic		Capture	Illumina HiSeq	Phase_I	127837574	NM_005238	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	CCDS8475.1																																																																																				0.527	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
KCNJ1	3758	broad.mit.edu	37	11	128709225	128709225	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:128709225C>T	ENST00000392664.2	-	2	1087	c.971G>A	c.(970-972)cGt>cAt	p.R324H	KCNJ1_ENST00000440599.2_Missense_Mutation_p.R305H|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R305H|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R305H|KCNJ1_ENST00000392665.2_Missense_Mutation_p.R305H	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	324					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R324H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GGGAGCAAAACGGTAGCCCCA	0.493																																					p.R305H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G914A	11						.						83.0	80.0	81.0					11																	128709225		2201	4297	6498	128214435	SO:0001583	missense	3758	exon4			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.971G>A	11.37:g.128709225C>T	ENSP00000376432:p.Arg324His	Somatic		Capture	Illumina HiSeq	Phase_I	128214435	NM_153767	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424841	0.83667	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.262482	0.45867	D	0.000333	D	0.97346	0.9132	M	0.78344	2.41	0.58432	D	0.999998	D	0.71674	0.998	P	0.59643	0.861	D	0.97697	1.0182	10	0.87932	D	0	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	324	P48048	IRK1_HUMAN	H	305;305;305;305;324	ENSP00000376433:R305H;ENSP00000376434:R305H;ENSP00000406320:R305H;ENSP00000316233:R305H;ENSP00000376432:R324H	ENSP00000316233:R305H	R	-	2	0	KCNJ1	128214435	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.882000	0.56160	2.644000	0.89710	0.563000	0.77884	CGT		0.493	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
ARHGAP32	9743	broad.mit.edu	37	11	128936684	128936684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:128936684C>T	ENST00000310343.9	-	6	568	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R116Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	190	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R190Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAATCTTCGGTCATAAAT	0.368																																					p.R190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	11						.						85.0	81.0	82.0					11																	128936684		1566	3578	5144	128441894	SO:0001583	missense	9743	exon6			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.569G>A	11.37:g.128936684C>T	ENSP00000310561:p.Arg190Gln	Somatic		Capture	Illumina HiSeq	Phase_I	128441894	NM_001142685	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442344	0.96187	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.30448	1.53;1.53;1.53	5.05	5.05	0.67936	Phox homologous domain (3);	.	.	.	.	T	0.61337	0.2339	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.961	T	0.67665	-0.5612	9	0.87932	D	0	.	17.3321	0.87268	0.0:1.0:0.0:0.0	.	124;190	Q86T64;A7KAX9	.;RHG32_HUMAN	Q	190;116;124;164	ENSP00000310561:R190Q;ENSP00000432468:R116Q;ENSP00000432303:R164Q	ENSP00000310561:R190Q	R	-	2	0	ARHGAP32	128441894	1.000000	0.71417	0.980000	0.43619	0.945000	0.59286	7.148000	0.77389	2.632000	0.89209	0.563000	0.77884	CGA		0.368	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
TEAD1	7003	broad.mit.edu	37	11	12923582	12923582	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:12923582A>C	ENST00000526600.1	+	5	730	c.507A>C	c.(505-507)aaA>aaC	p.K169N	TEAD1_ENST00000527636.1_Missense_Mutation_p.K265N|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361985.2_Missense_Mutation_p.K265N|TEAD1_ENST00000361905.4_Missense_Mutation_p.K250N|TEAD1_ENST00000334310.6_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	265	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K250N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTTATGACAAATTTCCTGAAA	0.423																																					p.K265N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A795C	11						.						197.0	193.0	194.0					11																	12923582		2200	4294	6494	12880158	SO:0001583	missense	7003	exon10			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.507A>C	11.37:g.12923582A>C	ENSP00000435393:p.Lys169Asn	Somatic		Capture	Illumina HiSeq	Phase_I	12880158	NM_021961	A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.281015	0.80692	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000361985;ENST00000526600	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	6.16	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70513	-0.4851	10	0.87932	D	0	-13.1005	8.3443	0.32263	0.7902:0.0:0.2098:0.0	.	169;265	E9PKB7;P28347	.;TEAD1_HUMAN	N	250;265;265;169	ENSP00000355332:K250N;ENSP00000435233:K265N;ENSP00000354588:K265N;ENSP00000435393:K169N	ENSP00000355332:K250N	K	+	3	2	TEAD1	12880158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	1.156000	0.42514	0.528000	0.53228	AAA		0.423	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	
BARX2	8538	broad.mit.edu	37	11	129246032	129246032	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:129246032G>T	ENST00000281437.4	+	1	198	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	34					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.E34D(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TCTCCAAGGAGACCTGCGATT	0.602											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E34D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G102T	11						.						141.0	151.0	148.0					11																	129246032		2201	4297	6498	128751242	SO:0001583	missense	8538	exon1			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.102G>T	11.37:g.129246032G>T	ENSP00000281437:p.Glu34Asp	Somatic	1571	Capture	Illumina HiSeq	Phase_I	128751242	NM_003658	O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705832	0.89018	.	.	ENSG00000043039	ENST00000281437	D	0.90955	-2.76	4.98	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.89290	0.3618	10	0.39692	T	0.17	.	10.327	0.43798	0.0931:0.0:0.9069:0.0	.	34	Q9UMQ3	BARX2_HUMAN	D	34	ENSP00000281437:E34D	ENSP00000281437:E34D	E	+	3	2	BARX2	128751242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.155000	0.58131	1.087000	0.41251	0.585000	0.79938	GAG		0.602	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
PRDM10	56980	broad.mit.edu	37	11	129812497	129812497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:129812497C>A	ENST00000360871.3	-	7	1021	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	PRDM10_ENST00000358825.5_Nonsense_Mutation_p.E264*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.E178*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.E178*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.E178*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.E238*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	264	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E264*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AAATCCCTTTCTTTCCTGTCC	0.398																																					p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	11						.						142.0	137.0	139.0					11																	129812497		2201	4297	6498	129317707	SO:0001587	stop_gained	56980	exon7			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.790G>T	11.37:g.129812497C>A	ENSP00000354118:p.Glu264*	Somatic		Capture	Illumina HiSeq	Phase_I	129317707	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	39	7.532863	0.98342	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	.	.	.	5.18	5.18	0.71444	.	0.169880	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.3872	19.0642	0.93103	0.0:1.0:0.0:0.0	.	.	.	.	X	264;178;264;178;238;178	.	ENSP00000302669:E178X	E	-	1	0	PRDM10	129317707	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.942000	0.49018	2.590000	0.87494	0.561000	0.74099	GAA		0.398	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
APLP2	334	broad.mit.edu	37	11	129980458	129980458	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:129980458A>G	ENST00000263574.5	+	3	377	c.305A>G	c.(304-306)aAt>aGt	p.N102S	APLP2_ENST00000539648.1_Intron|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000345598.5_Missense_Mutation_p.N102S|APLP2_ENST00000338167.5_Missense_Mutation_p.N102S|APLP2_ENST00000278756.7_Missense_Mutation_p.N112S|APLP2_ENST00000528499.1_Missense_Mutation_p.N102S|APLP2_ENST00000543137.1_Missense_Mutation_p.N9S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	102					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.N102S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CAGATCACAAATGTGATGGAG	0.438																																					p.N102S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A305G	11						.						146.0	132.0	137.0					11																	129980458		2201	4297	6498	129485668	SO:0001583	missense	334	exon3			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.305A>G	11.37:g.129980458A>G	ENSP00000263574:p.Asn102Ser	Somatic		Capture	Illumina HiSeq	Phase_I	129485668	NM_001142276	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870233	0.91587	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D	0.95412	-3.7;-2.12;-3.66;-2.23;-2.23;-2.24	5.41	5.41	0.78517	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.997	D;D;D;D;D	0.87578	0.998;0.982;0.987;0.982;0.963	D	0.98945	1.0792	10	0.72032	D	0.01	-28.8966	14.6307	0.68653	1.0:0.0:0.0:0.0	.	102;102;102;102;102	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	S	49;127;87;102;102;102;102;112;9	ENSP00000435914:N102S;ENSP00000263574:N102S;ENSP00000263575:N102S;ENSP00000345444:N102S;ENSP00000278756:N112S;ENSP00000444122:N9S	ENSP00000263574:N102S	N	+	2	0	APLP2	129485668	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.062000	0.61559	0.528000	0.53228	AAT		0.438	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
APLP2	334	broad.mit.edu	37	11	129999985	129999985	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:129999985A>C	ENST00000263574.5	+	11	1580	c.1508A>C	c.(1507-1509)gAt>gCt	p.D503A	APLP2_ENST00000539648.1_Missense_Mutation_p.D291A|APLP2_ENST00000345598.5_Missense_Mutation_p.D274A|APLP2_ENST00000338167.5_Missense_Mutation_p.D503A|APLP2_ENST00000278756.7_Missense_Mutation_p.D513A|APLP2_ENST00000528499.1_Missense_Mutation_p.D447A|APLP2_ENST00000543137.1_Missense_Mutation_p.D410A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	503					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.D503A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGAACAAAGATCGCTTACAT	0.458																																					p.D503A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1508C	11						.						170.0	148.0	156.0					11																	129999985		2201	4297	6498	129505195	SO:0001583	missense	334	exon11			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1508A>C	11.37:g.129999985A>C	ENSP00000263574:p.Asp503Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129505195	NM_001142276	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725613	0.89298	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.33	5.33	0.75918	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.966;0.994;0.943;0.999;0.985;0.943;0.977	T	0.80906	-0.1173	10	0.87932	D	0	-37.5512	14.4856	0.67614	1.0:0.0:0.0:0.0	.	291;503;447;274;441;447;503	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	A	447;291;503;274;503;513;410	ENSP00000435914:D447A;ENSP00000443728:D291A;ENSP00000263574:D503A;ENSP00000263575:D274A;ENSP00000345444:D503A;ENSP00000278756:D513A;ENSP00000444122:D410A	ENSP00000263574:D503A	D	+	2	0	APLP2	129505195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.027000	0.59764	0.533000	0.62120	GAT		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
SNX19	399979	broad.mit.edu	37	11	130773175	130773175	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:130773175G>T	ENST00000265909.4	-	8	3117	c.2548C>A	c.(2548-2550)Ctt>Att	p.L850I	SNX19_ENST00000534726.1_Missense_Mutation_p.L90I|SNX19_ENST00000545537.1_Missense_Mutation_p.L90I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Missense_Mutation_p.L230I|SNX19_ENST00000539184.1_Missense_Mutation_p.L293I|SNX19_ENST00000528555.1_Missense_Mutation_p.L230I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	850					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L850I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCAAAGATAAGACGAAGAAAC	0.448																																					p.L850I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2548A	11						.						135.0	120.0	125.0					11																	130773175		2201	4297	6498	130278385	SO:0001583	missense	399979	exon8			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2548C>A	11.37:g.130773175G>T	ENSP00000265909:p.Leu850Ile	Somatic		Capture	Illumina HiSeq	Phase_I	130278385	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958804	0.53400	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.77	3.88	0.44766	Sorting nexin, C-terminal (1);	0.119418	0.64402	N	0.000016	T	0.43033	0.1229	L	0.43152	1.355	0.37779	D	0.926935	B;B	0.31485	0.321;0.325	B;B	0.38106	0.191;0.265	T	0.40534	-0.9558	10	0.33141	T	0.24	-7.0585	11.2776	0.49176	0.0661:0.0:0.8061:0.1278	.	293;850	F5H5D1;Q92543	.;SNX19_HUMAN	I	850;90;90;230;230;293	ENSP00000265909:L850I;ENSP00000433699:L90I;ENSP00000437982:L90I;ENSP00000435122:L230I;ENSP00000432307:L230I;ENSP00000443480:L293I	ENSP00000265909:L850I	L	-	1	0	SNX19	130278385	1.000000	0.71417	0.012000	0.15200	0.928000	0.56348	3.210000	0.51129	0.874000	0.35823	0.655000	0.94253	CTT		0.448	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
SNX19	399979	broad.mit.edu	37	11	130785609	130785609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:130785609G>A	ENST00000265909.4	-	1	795	c.226C>T	c.(226-228)Cga>Tga	p.R76*	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Nonsense_Mutation_p.R76*|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	76					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R76*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGATGCAGTCGACCTGAAGCC	0.597																																					p.R76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	11						.						67.0	54.0	59.0					11																	130785609		2201	4297	6498	130290819	SO:0001587	stop_gained	399979	exon1			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.226C>T	11.37:g.130785609G>A	ENSP00000265909:p.Arg76*	Somatic		Capture	Illumina HiSeq	Phase_I	130290819	NM_014758	E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899355	0.97081	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	.	.	.	4.94	4.94	0.65067	.	0.879138	0.09939	N	0.736129	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-1.2303	9.781	0.40649	0.0:0.1508:0.6935:0.1557	.	.	.	.	X	76	.	ENSP00000265909:R76X	R	-	1	2	SNX19	130290819	.	.	0.061000	0.19648	0.103000	0.19146	.	.	2.553000	0.86117	0.455000	0.32223	CGA		0.597	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
OPCML	4978	broad.mit.edu	37	11	132290134	132290134	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:132290134G>T	ENST00000331898.7	-	7	1569	c.991C>A	c.(991-993)Ctc>Atc	p.L331I	OPCML_ENST00000374778.4_Missense_Mutation_p.L290I|OPCML_ENST00000524381.1_Missense_Mutation_p.L324I|OPCML_ENST00000541867.1_Missense_Mutation_p.L340I|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	331					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.L331I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GATAGCCAGAGACAAGCCAGT	0.507																																					p.L331I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C991A	11						.						127.0	106.0	113.0					11																	132290134		2201	4297	6498	131795344	SO:0001583	missense	4978	exon7			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.991C>A	11.37:g.132290134G>T	ENSP00000330862:p.Leu331Ile	Somatic		Capture	Illumina HiSeq	Phase_I	131795344	NM_002545	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713426	0.48517	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.62364	0.38;0.35;0.55;0.03	5.34	5.34	0.76211	.	0.567977	0.15924	N	0.237972	T	0.58352	0.2116	L	0.48642	1.525	0.38012	D	0.934588	B;B;B;B	0.20368	0.044;0.009;0.021;0.021	B;B;B;B	0.23716	0.048;0.033;0.029;0.019	T	0.55909	-0.8066	10	0.26408	T	0.33	-7.9476	16.8403	0.85967	0.0:0.0:1.0:0.0	.	340;324;330;331	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	I	331;324;290;298;340	ENSP00000330862:L331I;ENSP00000434750:L324I;ENSP00000363910:L290I;ENSP00000445496:L340I	ENSP00000330862:L331I	L	-	1	0	OPCML	131795344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	2.504000	0.84457	0.563000	0.77884	CTC		0.507	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
SPATA19	219938	broad.mit.edu	37	11	133712383	133712383	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:133712383C>T	ENST00000299140.3	-	5	488	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	SPATA19_ENST00000532889.1_Missense_Mutation_p.R145Q	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.R145Q(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AGCTTACCTTCGTCTCACCTG	0.532																																					p.R145Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434A	11						.						275.0	207.0	230.0					11																	133712383		2201	4297	6498	133217593	SO:0001583	missense	219938	exon5			AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.434G>A	11.37:g.133712383C>T	ENSP00000299140:p.Arg145Gln	Somatic		Capture	Illumina HiSeq	Phase_I	133217593	NM_174927	Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729090	0.69074	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.57436	0.4;0.4	5.66	3.79	0.43588	.	0.000000	0.49916	D	0.000138	T	0.36690	0.0976	L	0.32530	0.975	0.29586	N	0.848795	B	0.31318	0.319	B	0.19946	0.027	T	0.38351	-0.9665	10	0.87932	D	0	.	8.4	0.32581	0.0:0.6265:0.2938:0.0796	.	145	Q7Z5L4	SPT19_HUMAN	Q	145	ENSP00000299140:R145Q;ENSP00000435248:R145Q	ENSP00000299140:R145Q	R	-	2	0	SPATA19	133217593	0.981000	0.34729	0.987000	0.45799	0.963000	0.63663	0.651000	0.24873	0.750000	0.32877	0.462000	0.41574	CGA		0.532	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927	
ARNTL	406	broad.mit.edu	37	11	13391235	13391235	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:13391235C>A	ENST00000403290.1	+	12	1096	c.741C>A	c.(739-741)ttC>ttA	p.F247L	ARNTL_ENST00000403510.3_Missense_Mutation_p.F204L|ARNTL_ENST00000389707.4_Missense_Mutation_p.F247L|ARNTL_ENST00000497429.1_Intron|ARNTL_ENST00000401424.1_Missense_Mutation_p.F204L|ARNTL_ENST00000403482.3_Missense_Mutation_p.F245L|ARNTL_ENST00000389708.3_Missense_Mutation_p.F247L|ARNTL_ENST00000361003.4_Missense_Mutation_p.F247L|ARNTL_ENST00000396441.3_Missense_Mutation_p.F247L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	247					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F247L(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GACGTTCTTTCTTCTGTAGGA	0.408																																					p.F204L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C612A	11						.						164.0	155.0	158.0					11																	13391235		2200	4294	6494	13347811	SO:0001583	missense	406	exon12			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.741C>A	11.37:g.13391235C>A	ENSP00000384517:p.Phe247Leu	Somatic		Capture	Illumina HiSeq	Phase_I	13347811	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	C	26.9	4.783188	0.90282	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.53	4.59	0.56863	PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D	0.89917	0.982;1.0;1.0;0.992;0.998;1.0	D;D;D;D;D;D	0.97110	0.961;1.0;1.0;0.987;0.987;1.0	T	0.53535	-0.8425	10	0.72032	D	0.01	.	16.1174	0.81319	0.0:0.8667:0.1333:0.0	.	247;245;204;247;247;204	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	L	247;247;204;247;247;247;204;203;245	ENSP00000379718:F247L;ENSP00000374357:F247L;ENSP00000385915:F204L;ENSP00000384517:F247L;ENSP00000354278:F247L;ENSP00000374358:F247L;ENSP00000385581:F204L;ENSP00000385897:F245L	ENSP00000340289:F203L	F	+	3	2	ARNTL	13347811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.015000	0.49599	2.605000	0.88082	0.655000	0.94253	TTC		0.408	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
ARNTL	406	broad.mit.edu	37	11	13391307	13391307	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:13391307G>T	ENST00000403290.1	+	12	1168	c.813G>T	c.(811-813)aaG>aaT	p.K271N	ARNTL_ENST00000403510.3_Missense_Mutation_p.K228N|ARNTL_ENST00000389707.4_Missense_Mutation_p.K271N|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000401424.1_Missense_Mutation_p.K228N|ARNTL_ENST00000403482.3_Missense_Mutation_p.K269N|ARNTL_ENST00000389708.3_Missense_Mutation_p.K271N|ARNTL_ENST00000361003.4_Missense_Mutation_p.K271N|ARNTL_ENST00000396441.3_Missense_Mutation_p.K271N			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	271					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K271N(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CCTGCTCAAAGAAAAAAGGTA	0.458																																					p.K228N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G684T	11						.						97.0	91.0	93.0					11																	13391307		2200	4294	6494	13347883	SO:0001583	missense	406	exon12			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.813G>T	11.37:g.13391307G>T	ENSP00000384517:p.Lys271Asn	Somatic		Capture	Illumina HiSeq	Phase_I	13347883	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	18.75	3.691198	0.68271	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.12361	3.01;3.01;3.02;3.02;2.69;3.01;3.04;3.01	5.43	4.51	0.55191	.	0.050940	0.85682	D	0.000000	T	0.27629	0.0679	L	0.46819	1.47	0.53005	D	0.999966	D;P;P;D;D;P	0.89917	0.996;0.929;0.929;0.999;1.0;0.884	D;P;P;D;D;B	0.85130	0.99;0.666;0.614;0.991;0.997;0.41	T	0.00326	-1.1815	10	0.49607	T	0.09	.	10.5963	0.45341	0.1495:0.0:0.8505:0.0	.	271;269;228;271;271;228	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	N	271;271;228;271;271;271;228;227;269	ENSP00000379718:K271N;ENSP00000374357:K271N;ENSP00000385915:K228N;ENSP00000384517:K271N;ENSP00000354278:K271N;ENSP00000374358:K271N;ENSP00000385581:K228N;ENSP00000385897:K269N	ENSP00000340289:K227N	K	+	3	2	ARNTL	13347883	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.648000	0.54410	2.549000	0.85964	0.655000	0.94253	AAG		0.458	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
IGSF9B	22997	broad.mit.edu	37	11	133791267	133791267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:133791267C>T	ENST00000321016.8	-	18	2583	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E785K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	785					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.E785K(1)|p.E241K(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGGATGCTCTCGGGGCTCACC	0.662																																					p.E785K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2353A	11						.						11.0	12.0	12.0					11																	133791267		2041	4171	6212	133296477	SO:0001583	missense	22997	exon18			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2353G>A	11.37:g.133791267C>T	ENSP00000317980:p.Glu785Lys	Somatic		Capture	Illumina HiSeq	Phase_I	133296477	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.933009	0.92458	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69435	-0.08;-0.4	4.62	4.62	0.57501	.	0.000000	0.45361	D	0.000380	T	0.73621	0.3610	L	0.51422	1.61	0.54753	D	0.999985	D	0.76494	0.999	P	0.56563	0.801	T	0.76386	-0.2978	10	0.56958	D	0.05	.	17.2629	0.87075	0.0:1.0:0.0:0.0	.	785	Q9UPX0	TUTLB_HUMAN	K	785;627	ENSP00000317980:E785K;ENSP00000436552:E627K	ENSP00000317980:E785K	E	-	1	0	IGSF9B	133296477	1.000000	0.71417	0.941000	0.38009	0.963000	0.63663	7.240000	0.78192	2.397000	0.81536	0.561000	0.74099	GAG		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	
JAM3	83700	broad.mit.edu	37	11	134014273	134014273	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:134014273G>A	ENST00000299106.4	+	4	553	c.394G>A	c.(394-396)Gag>Aag	p.E132K	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.E177K			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	132					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)	p.E177K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GATTGTGATCGAGTTAACTGT	0.468																																					p.E177K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	11						.						179.0	146.0	157.0					11																	134014273		2201	4297	6498	133519483	SO:0001583	missense	83700	exon4			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.394G>A	11.37:g.134014273G>A	ENSP00000299106:p.Glu132Lys	Somatic		Capture	Illumina HiSeq	Phase_I	133519483	NM_032801	B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.434|9.434	1.086352|1.086352	0.20390|0.20390	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106|ENST00000534549	.|.	.|.	.|.	5.03|5.03	4.11|4.11	0.48088|0.48088	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.716979|.	0.13853|.	N|.	0.358201|.	T|T	0.34279|0.34279	0.0892|0.0892	L|L	0.33753|0.33753	1.03|1.03	0.22171|0.22171	N|N	0.999315|0.999315	P|.	0.41624|.	0.757|.	B|.	0.35114|.	0.196|.	T|T	0.19128|0.19128	-1.0315|-1.0315	9|5	0.10902|.	T|.	0.67|.	.|.	7.8952|7.8952	0.29702|0.29702	0.0857:0.3381:0.5762:0.0|0.0857:0.3381:0.5762:0.0	.|.	132|.	Q9BX67|.	JAM3_HUMAN|.	K|Q	177|76	.|.	ENSP00000299106:E177K|.	E|R	+|+	1|2	0|0	JAM3|JAM3	133519483|133519483	0.200000|0.200000	0.23398|0.23398	0.999000|0.999000	0.59377|0.59377	0.693000|0.693000	0.40251|0.40251	0.429000|0.429000	0.21412|0.21412	1.108000|1.108000	0.41662|0.41662	-0.305000|-0.305000	0.09177|0.09177	GAG|CGA		0.468	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801	
NLRP6	171389	broad.mit.edu	37	11	281136	281136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:281136C>A	ENST00000312165.5	+	4	1402	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M	NLRP6_ENST00000534750.1_Missense_Mutation_p.L468M	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	468	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.L468M(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTGGAGCAACTGGAGCTTCG	0.642																																					p.L468M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1402A	11						.						68.0	74.0	72.0					11																	281136		2203	4300	6503	271136	SO:0001583	missense	171389	exon4			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1402C>A	11.37:g.281136C>A	ENSP00000309767:p.Leu468Met	Somatic		Capture	Illumina HiSeq	Phase_I	271136	NM_138329	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662833	0.14710	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.26	2.33	0.28932	NACHT nucleoside triphosphatase (1);	0.944627	0.08582	N	0.924393	T	0.80989	0.4730	L	0.54323	1.7	0.09310	N	1	B;D	0.69078	0.253;0.997	B;D	0.75484	0.212;0.986	T	0.65010	-0.6272	10	0.33141	T	0.24	.	7.8794	0.29614	0.0:0.8644:0.0:0.1356	.	468;468	E9PJZ8;P59044	.;NALP6_HUMAN	M	468	ENSP00000433617:L468M;ENSP00000309767:L468M	ENSP00000309767:L468M	L	+	1	2	NLRP6	271136	0.000000	0.05858	0.508000	0.27688	0.642000	0.38348	0.051000	0.14141	0.909000	0.36697	0.455000	0.32223	CTG		0.642	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329	
TALDO1	6888	broad.mit.edu	37	11	764308	764308	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:764308A>C	ENST00000319006.3	+	7	1009	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	TALDO1_ENST00000528097.1_Missense_Mutation_p.K284N			P37837	TALDO_HUMAN	transaldolase 1	286					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.K286Q(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGACCTGGAAAAAATCCACCT	0.587																																					p.K286Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A856C	11						.						95.0	93.0	94.0					11																	764308		2203	4300	6503	754308	SO:0001583	missense	6888	exon7				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.856A>C	11.37:g.764308A>C	ENSP00000321259:p.Lys286Gln	Somatic		Capture	Illumina HiSeq	Phase_I	754308	NM_006755	B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	CCDS7712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.23|15.23	2.770664|2.770664	0.49680|0.49680	.|.	.|.	ENSG00000177156|ENSG00000177156	ENST00000528097|ENST00000319006	D|D	0.83075|0.86562	-1.68|-2.14	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Aldolase-type TIM barrel (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.88735|0.88735	0.6517|0.6517	M|M	0.81614|0.81614	2.55|2.55	0.24802|0.24802	N|N	0.992699|0.992699	B|B	0.23185|0.28400	0.081|0.21	B|B	0.24269|0.34931	0.052|0.192	D|D	0.83423|0.83423	0.0034|0.0034	10|10	0.72032|0.59425	D|D	0.01|0.04	-17.6185|-17.6185	14.1762|14.1762	0.65542|0.65542	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	284|286	F2Z393|P37837	.|TALDO_HUMAN	N|Q	284|286	ENSP00000437098:K284N|ENSP00000321259:K286Q	ENSP00000437098:K284N|ENSP00000321259:K286Q	K|K	+|+	3|1	2|0	TALDO1|TALDO1	754308|754308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	5.497000|5.497000	0.66924|0.66924	2.055000|2.055000	0.61198|0.61198	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.587	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755	
MUC5AC	4586	broad.mit.edu	37	11	1213725	1213725	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:1213725C>T	ENST00000358378.6	+	0	966							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCTTCTGCAACGTGGCTGACC	0.552																																					.												.	.	0			.	11						.						361.0	338.0	345.0					11																	1213725		875	1990	2865	1170301	SO:0001624	3_prime_UTR_variant	0	.			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*963C>T	11.37:g.1213725C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1170301	.	O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	IGR	SNP	ENST00000358378.6	37																																																																																					0.552	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000396096.2	XM_001130382	
KRTAP5-6	440023	broad.mit.edu	37	11	1718600	1718600	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:1718600T>C	ENST00000382160.1	+	1	176	c.125T>C	c.(124-126)gTg>gCg	p.V42A		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	42	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V42A(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTGCTGTGTGCCAGCCTGT	0.677																																					p.V42A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T125C	11						.						82.0	101.0	95.0					11																	1718600		2202	4299	6501	1675176	SO:0001583	missense	440023	exon1			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.125T>C	11.37:g.1718600T>C	ENSP00000371595:p.Val42Ala	Somatic		Capture	Illumina HiSeq	Phase_I	1675176	NM_001012416	A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	t	11.28	1.590800	0.28357	.	.	ENSG00000205864	ENST00000382160	T	0.09630	2.96	3.95	2.82	0.32997	.	.	.	.	.	T	0.10508	0.0257	M	0.75447	2.3	0.24118	N	0.995812	B	0.11235	0.004	B	0.14023	0.01	T	0.49000	-0.8984	9	0.05721	T	0.95	.	4.7081	0.12860	0.0:0.2451:0.0:0.7549	.	42	Q6L8G9	KRA56_HUMAN	A	42	ENSP00000371595:V42A	ENSP00000371595:V42A	V	+	2	0	KRTAP5-6	1675176	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.355000	0.34068	1.423000	0.47198	0.434000	0.28630	GTG		0.677	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2		
CARS	833	broad.mit.edu	37	11	3023270	3023270	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:3023270G>A	ENST00000397111.5	-	21	2287	c.2042C>T	c.(2041-2043)gCc>gTc	p.A681V	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Missense_Mutation_p.A694V|CARS_ENST00000278224.9_Missense_Mutation_p.A681V|CARS_ENST00000397114.3_Missense_Mutation_p.A671V|CARS_ENST00000380525.4_Missense_Mutation_p.A764V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	681					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.A681V(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCATCTTGGCCAGCTTTGC	0.507			T	ALK	ALCL																																p.A764V	Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2291T	11						.						217.0	232.0	227.0					11																	3023270		2202	4299	6501	2979846	SO:0001583	missense	833	exon22			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2042C>T	11.37:g.3023270G>A	ENSP00000380300:p.Ala681Val	Somatic		Capture	Illumina HiSeq	Phase_I	2979846	NM_001014437	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907141	0.72868	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.47869	0.83;0.84;0.85;0.84;0.84	4.48	2.38	0.29361	.	0.068631	0.56097	D	0.000022	T	0.63438	0.2511	M	0.89478	3.035	0.58432	D	0.999999	P;P;P;P;P;P	0.51933	0.918;0.918;0.632;0.949;0.599;0.632	P;P;B;P;B;B	0.55871	0.461;0.558;0.341;0.786;0.197;0.341	T	0.66164	-0.5992	10	0.39692	T	0.17	-20.0439	9.5548	0.39332	0.0:0.1309:0.6286:0.2404	.	694;764;681;681;764;671	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	V	764;681;681;671;694	ENSP00000369897:A764V;ENSP00000380300:A681V;ENSP00000278224:A681V;ENSP00000380303:A671V;ENSP00000384069:A694V	ENSP00000278224:A681V	A	-	2	0	CARS	2979846	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	4.152000	0.58111	1.188000	0.43014	0.561000	0.74099	GCC		0.507	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751	
ART1	417	broad.mit.edu	37	11	3680857	3680857	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:3680857G>T	ENST00000250693.1	+	3	209	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	36					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E36D(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TCTCTCAAGAGATTCAGCTGG	0.597																																					p.E36D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G108T	11						.						58.0	57.0	57.0					11																	3680857		2201	4298	6499	3637433	SO:0001583	missense	417	exon3			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.108G>T	11.37:g.3680857G>T	ENSP00000250693:p.Glu36Asp	Somatic		Capture	Illumina HiSeq	Phase_I	3637433	NM_004314	Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	8.737	0.917964	0.17982	.	.	ENSG00000129744	ENST00000250693	T	0.09163	3.01	5.53	-1.78	0.07957	.	0.229124	0.37012	N	0.002288	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.35375	-0.9791	9	.	.	.	.	13.4917	0.61399	0.2199:0.0:0.7801:0.0	.	36	P52961	NAR1_HUMAN	D	36	ENSP00000250693:E36D	.	E	+	3	2	ART1	3637433	0.000000	0.05858	0.241000	0.24154	0.290000	0.27261	0.060000	0.14342	-0.238000	0.09724	-0.373000	0.07131	GAG		0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314	
NUP98	4928	broad.mit.edu	37	11	3744542	3744542	+	Missense_Mutation	SNP	C	C	T	rs535003331		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:3744542C>T	ENST00000324932.7	-	16	2411	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	NUP98_ENST00000397004.4_Missense_Mutation_p.S664N|NUP98_ENST00000359171.4_Missense_Mutation_p.S664N|NUP98_ENST00000355260.3_Missense_Mutation_p.S664N|NUP98_ENST00000397007.4_Missense_Mutation_p.S681N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	681					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.S664N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACACTGTTGCTGTTGCTGTG	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.S664N			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1991A	11						.						193.0	153.0	166.0					11																	3744542		2201	4298	6499	3701118	SO:0001583	missense	4928	exon16			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1991G>A	11.37:g.3744542C>T	ENSP00000316032:p.Ser664Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3701118	NM_139131	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643538	0.47258	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.44	4.44	0.53790	.	0.116240	0.64402	D	0.000009	T	0.45597	0.1350	L	0.38175	1.15	0.09310	N	1	P;P;P;D	0.62365	0.504;0.504;0.919;0.991	B;B;P;P	0.61874	0.373;0.373;0.503;0.895	T	0.25779	-1.0122	9	0.16896	T	0.51	.	10.1478	0.42774	0.0:0.9068:0.0:0.0932	.	681;664;664;664	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	N	664;664;664;664;681	.	ENSP00000316032:S664N	S	-	2	0	NUP98	3701118	0.160000	0.22878	0.244000	0.24202	0.652000	0.38707	0.806000	0.27126	2.189000	0.69895	0.591000	0.81541	AGC		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
NUP98	4928	broad.mit.edu	37	11	3803267	3803267	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:3803267C>T	ENST00000324932.7	-	2	497				RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000397004.4_Intron|NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron|NUP98_ENST00000397007.4_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTTAAAAACTTACTCTGTC	0.363			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																.			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Unknown(1)	large_intestine(1)	.	11						.						88.0	85.0	86.0					11																	3803267		2201	4298	6499	3759843	SO:0001627	intron_variant	4928	.			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.76+4G>A	11.37:g.3803267C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3759843	.	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Intron	SNP	ENST00000324932.7	37	CCDS7746.1																																																																																				0.363	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
TRIM21	6737	broad.mit.edu	37	11	4411465	4411465	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4411465G>T	ENST00000254436.7	-	2	287	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	TRIM21_ENST00000543625.1_Missense_Mutation_p.L59M	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	59					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L59M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCTTGAGCAGAAAGCGCTGC	0.582																																					p.L59M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175A	11						.						89.0	94.0	92.0					11																	4411465		2100	4232	6332	4368041	SO:0001583	missense	6737	exon2			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.175C>A	11.37:g.4411465G>T	ENSP00000254436:p.Leu59Met	Somatic		Capture	Illumina HiSeq	Phase_I	4368041	NM_003141	Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213262	0.09757	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	D;D	0.84730	-1.89;-1.89	4.46	2.52	0.30459	Zinc finger, RING/FYVE/PHD-type (1);	0.189424	0.26176	N	0.025889	T	0.64405	0.2595	N	0.08118	0	0.09310	N	1	P	0.39748	0.686	B	0.33960	0.173	T	0.60551	-0.7241	10	0.62326	D	0.03	.	4.9048	0.13793	0.1028:0.0:0.5251:0.372	.	59	P19474	RO52_HUMAN	M	59	ENSP00000254436:L59M;ENSP00000444045:L59M	ENSP00000254436:L59M	L	-	1	2	TRIM21	4368041	0.000000	0.05858	0.451000	0.26982	0.018000	0.09664	0.494000	0.22467	0.756000	0.33013	0.655000	0.94253	CTG		0.582	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141	
OR52M1	119772	broad.mit.edu	37	11	4567179	4567179	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4567179C>A	ENST00000360213.1	+	1	759	c.759C>A	c.(757-759)atC>atA	p.I253I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I253I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCTGATCTTTTATGTTC	0.512																																					p.I253I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759A	11						.						291.0	249.0	263.0					11																	4567179		2201	4298	6499	4523755	SO:0001819	synonymous_variant	119772	exon1			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.759C>A	11.37:g.4567179C>A		Somatic		Capture	Illumina HiSeq	Phase_I	4523755	NM_001004137		Silent	SNP	ENST00000360213.1	37	CCDS31353.1																																																																																				0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137	
OR52R1	119695	broad.mit.edu	37	11	4824867	4824867	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4824867G>T	ENST00000356069.2	-	1	743	c.744C>A	c.(742-744)atC>atA	p.I248I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Silent_p.I327I	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I247I(1)|p.I327I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATGACACAGATATGGGAGG	0.473																																					p.I248I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C744A	11						.						92.0	92.0	92.0					11																	4824867		2201	4298	6499	4781443	SO:0001819	synonymous_variant	119695	exon1			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.744C>A	11.37:g.4824867G>T		Somatic		Capture	Illumina HiSeq	Phase_I	4781443	NM_001005177	Q6IFI0	Silent	SNP	ENST00000356069.2	37	CCDS31360.2																																																																																				0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR51A7	119687	broad.mit.edu	37	11	4928795	4928795	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4928795T>A	ENST00000359350.4	+	1	196	c.196T>A	c.(196-198)Ttg>Atg	p.L66M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66M(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTGCCATGTTGGCTGTCTC	0.488																																					p.L66M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T196A	11						.						183.0	158.0	167.0					11																	4928795		2201	4298	6499	4885371	SO:0001583	missense	119687	exon1			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.196T>A	11.37:g.4928795T>A	ENSP00000352305:p.Leu66Met	Somatic		Capture	Illumina HiSeq	Phase_I	4885371	NM_001004749	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514164	0.64522	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	D	0.91124	-2.79	5.02	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	N	0.001879	D	0.95758	0.8620	H	0.95294	3.65	0.27352	N	0.956212	D	0.89917	1.0	D	0.97110	1.0	D	0.89462	0.3737	10	0.87932	D	0	.	6.051	0.19785	0.0:0.2387:0.0:0.7613	.	66	Q8NH64	O51A7_HUMAN	M	66;66;55	ENSP00000352305:L66M	ENSP00000352305:L66M	L	+	1	2	OR51A7	4885371	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-1.330000	0.02675	2.098000	0.63641	0.533000	0.62120	TTG		0.488	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
OR51A7	119687	broad.mit.edu	37	11	4929325	4929325	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4929325C>A	ENST00000359350.4	+	1	726	c.726C>A	c.(724-726)tcC>tcA	p.S242S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTGTCTCCCACATCTGTG	0.468																																					p.S242S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726A	11						.						233.0	213.0	220.0					11																	4929325		2201	4298	6499	4885901	SO:0001819	synonymous_variant	119687	exon1			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.726C>A	11.37:g.4929325C>A		Somatic		Capture	Illumina HiSeq	Phase_I	4885901	NM_001004749	Q6IFH8	Silent	SNP	ENST00000359350.4	37	CCDS31364.1																																																																																				0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
OR51G1	79324	broad.mit.edu	37	11	4945264	4945264	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4945264C>A	ENST00000321961.2	-	1	373	c.306G>T	c.(304-306)caG>caT	p.Q102H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q102H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAAGAAGAGCTGAGTGAAAC	0.507																																					p.Q102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G306T	11						.						92.0	87.0	89.0					11																	4945264		2201	4298	6499	4901840	SO:0001583	missense	79324	exon1			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.306G>T	11.37:g.4945264C>A	ENSP00000322546:p.Gln102His	Somatic		Capture	Illumina HiSeq	Phase_I	4901840	NM_001005237	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898661	0.52227	.	.	ENSG00000176879	ENST00000321961	T	0.05081	3.5	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	U	0.002162	T	0.36413	0.0966	H	0.98466	4.24	0.33120	D	0.541662	D	0.89917	1.0	D	0.91635	0.999	T	0.59979	-0.7352	10	0.87932	D	0	.	7.8942	0.29697	0.0:0.8032:0.0:0.1968	.	102	Q8NGK1	O51G1_HUMAN	H	102	ENSP00000322546:Q102H	ENSP00000322546:Q102H	Q	-	3	2	OR51G1	4901840	0.423000	0.25482	1.000000	0.80357	0.926000	0.56050	1.049000	0.30392	0.947000	0.37659	0.557000	0.71058	CAG		0.507	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR51A2	401667	broad.mit.edu	37	11	4976118	4976118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:4976118G>T	ENST00000380371.1	-	1	825	c.826C>A	c.(826-828)Ctc>Atc	p.L276I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L276I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGCCATGAGAACATTAATG	0.438																																					p.L276I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826A	11						.						93.0	75.0	82.0					11																	4976118		2078	3804	5882	4932694	SO:0001583	missense	401667	exon1			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.826C>A	11.37:g.4976118G>T	ENSP00000369729:p.Leu276Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4932694	NM_001004748		Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	8.570	0.879822	0.17467	.	.	ENSG00000205496	ENST00000380371	T	0.37411	1.2	3.26	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28067	0.0692	L	0.41710	1.295	0.09310	N	1	B	0.25235	0.121	B	0.33960	0.173	T	0.45848	-0.9233	9	0.42905	T	0.14	.	8.3541	0.32321	0.0939:0.0:0.395:0.5111	.	276	Q8NGJ7	O51A2_HUMAN	I	276	ENSP00000369729:L276I	ENSP00000369729:L276I	L	-	1	0	OR51A2	4932694	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.089000	0.00044	-0.591000	0.05859	-0.456000	0.05471	CTC		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR51L1	119682	broad.mit.edu	37	11	5020401	5020401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5020401C>A	ENST00000321543.1	+	1	189	c.189C>A	c.(187-189)taC>taA	p.Y63*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y63*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGTATTACTTTATTTCCA	0.448																																					p.Y63X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C189A	11						.						206.0	183.0	191.0					11																	5020401		2201	4298	6499	4976977	SO:0001587	stop_gained	119682	exon1			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.189C>A	11.37:g.5020401C>A	ENSP00000322156:p.Tyr63*	Somatic		Capture	Illumina HiSeq	Phase_I	4976977	NM_001004755	Q6IFE5	Nonsense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927174	0.73327	.	.	ENSG00000176798	ENST00000321543	.	.	.	5.58	2.56	0.30785	.	0.000000	0.40144	N	0.001164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4848	0.16743	0.0:0.6122:0.1405:0.2473	.	.	.	.	X	63	.	ENSP00000322156:Y63X	Y	+	3	2	OR51L1	4976977	0.000000	0.05858	0.990000	0.47175	0.810000	0.45777	-1.183000	0.03079	0.383000	0.24910	0.655000	0.94253	TAC		0.448	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448																																					p.R173Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	11						.						123.0	118.0	120.0					11																	5153355		2201	4298	6499	5109931	SO:0001583	missense	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.518G>A	11.37:g.5153355C>T	ENSP00000303469:p.Arg173Gln	Somatic		Capture	Illumina HiSeq	Phase_I	5109931	NM_001005160		Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.371020	0.11409	.	.	ENSG00000171944	ENST00000307388	T	0.37411	1.2	5.22	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	1.505630	0.04679	N	0.412078	T	0.28366	0.0701	L	0.33339	1.005	0.09310	N	1	B	0.29671	0.254	B	0.28232	0.087	T	0.29088	-1.0023	10	0.27785	T	0.31	.	10.5995	0.45358	0.0:0.4889:0.0:0.5111	.	173	Q9H2C5	O52A5_HUMAN	Q	173	ENSP00000303469:R173Q	ENSP00000303469:R173Q	R	-	2	0	OR52A5	5109931	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.211000	0.01226	-0.100000	0.12241	-0.136000	0.14681	CGA		0.448	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
OR52A1	23538	broad.mit.edu	37	11	5173461	5173461	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5173461G>T	ENST00000380367.1	-	2	556	c.139C>A	c.(139-141)Ctt>Att	p.L47I	OR52A1_ENST00000328942.1_Missense_Mutation_p.L47I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	47					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.L47I(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAGAAGCAAGGAATTT	0.458																																					p.L47I												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C139A	11						.						82.0	76.0	78.0					11																	5173461		2201	4297	6498	5130037	SO:0001583	missense	23538	exon1			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.139C>A	11.37:g.5173461G>T	ENSP00000369725:p.Leu47Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5130037	NM_012375	Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.112313	0.00353	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03524	3.9;3.9	5.26	0.835	0.18886	GPCR, rhodopsin-like superfamily (1);	0.169995	0.26143	N	0.026092	T	0.01523	0.0049	N	0.03999	-0.3	0.18873	N	0.999983	B	0.15930	0.015	B	0.20384	0.029	T	0.49224	-0.8962	10	0.02654	T	1	.	8.4329	0.32769	0.0753:0.0:0.3537:0.571	.	47	Q9UKL2	O52A1_HUMAN	I	47	ENSP00000369725:L47I;ENSP00000333684:L47I	ENSP00000333684:L47I	L	-	1	0	OR52A1	5130037	0.000000	0.05858	0.040000	0.18447	0.032000	0.12392	-1.464000	0.02359	0.282000	0.22254	0.655000	0.94253	CTT		0.458	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375	
OR51V1	283111	broad.mit.edu	37	11	5221475	5221475	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5221475T>G	ENST00000321255.1	-	1	455	c.456A>C	c.(454-456)aaA>aaC	p.K152N		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K152N(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCCCAATTTTGATAATTC	0.393																																					p.K152N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A456C	11						.						50.0	55.0	54.0					11																	5221475		2200	4298	6498	5178051	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.456A>C	11.37:g.5221475T>G	ENSP00000321729:p.Lys152Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5178051	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270482	0.10349	.	.	ENSG00000176742	ENST00000321255	T	0.72394	-0.65	5.27	0.00114	0.14045	GPCR, rhodopsin-like superfamily (1);	0.342967	0.24869	N	0.034946	T	0.56277	0.1974	L	0.49455	1.56	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.49579	-0.8925	10	0.56958	D	0.05	.	1.7877	0.03045	0.128:0.2068:0.132:0.5332	.	152	Q9H2C8	O51V1_HUMAN	N	152	ENSP00000321729:K152N	ENSP00000321729:K152N	K	-	3	2	OR51V1	5178051	0.006000	0.16342	0.045000	0.18777	0.091000	0.18340	-0.008000	0.12788	0.084000	0.17077	0.533000	0.62120	AAA		0.393	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR51V1	283111	broad.mit.edu	37	11	5221619	5221619	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5221619A>C	ENST00000321255.1	-	1	311	c.312T>G	c.(310-312)gaT>gaG	p.D104E		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D104E(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGCAGGAATCCAAGCTGA	0.532																																					p.D104E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T312G	11						.						65.0	61.0	62.0					11																	5221619		2201	4298	6499	5178195	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.312T>G	11.37:g.5221619A>C	ENSP00000321729:p.Asp104Glu	Somatic		Capture	Illumina HiSeq	Phase_I	5178195	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581652	0.46006	.	.	ENSG00000176742	ENST00000321255	T	0.01335	5.0	5.48	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.287019	0.24568	N	0.037407	T	0.03095	0.0091	L	0.50847	1.595	0.09310	N	1	D	0.59357	0.985	P	0.59115	0.852	T	0.43426	-0.9392	10	0.52906	T	0.07	.	1.6549	0.02779	0.4719:0.1537:0.0792:0.2951	.	104	Q9H2C8	O51V1_HUMAN	E	104	ENSP00000321729:D104E	ENSP00000321729:D104E	D	-	3	2	OR51V1	5178195	0.000000	0.05858	0.024000	0.17045	0.621000	0.37620	0.036000	0.13819	0.457000	0.26962	0.528000	0.53228	GAT		0.532	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR51V1	283111	broad.mit.edu	37	11	5221914	5221914	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5221914C>A	ENST00000321255.1	-	1	16	c.17G>T	c.(16-18)aGa>aTa	p.R6I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	6					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R6I(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAATCATTCTGGAACTGAG	0.383																																					p.R6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17T	11						.						73.0	72.0	73.0					11																	5221914		2201	4298	6499	5178490	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.17G>T	11.37:g.5221914C>A	ENSP00000321729:p.Arg6Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5178490	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996104	0.19043	.	.	ENSG00000176742	ENST00000321255	T	0.00573	6.48	3.88	-6.7	0.01766	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42799	-0.9430	9	0.37606	T	0.19	.	3.1063	0.06342	0.4741:0.1769:0.2598:0.0893	.	6	Q9H2C8	O51V1_HUMAN	I	6	ENSP00000321729:R6I	ENSP00000321729:R6I	R	-	2	0	OR51V1	5178490	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.415000	0.02469	-1.042000	0.03262	-0.219000	0.12488	AGA		0.383	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
HBB	3043	broad.mit.edu	37	11	5247996	5247996	+	Missense_Mutation	SNP	G	G	T	rs36029927|rs281864570|rs35755331|rs281864897|rs281864900|rs80356821	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5247996G>T	ENST00000335295.4	-	2	175	c.126C>A	c.(124-126)ttC>ttA	p.F42L	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	42			F -> Y (in Mequon).|Missing (in Bruxelles). {ECO:0000269|PubMed:2599881}.	F -> L (in Ref. 13; AAR96398). {ECO:0000305}.	bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.F42L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGGACTCAAAGAACCTCTGGG	0.517									Sickle Cell Trait																												p.F42L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C126A	11	GRCh37	CD920864|CI032768	HBB	D|I	rs34532766	.						101.0	99.0	100.0					11																	5247996		2201	4298	6499	5204572	SO:0001583	missense	3043	exon2	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.126C>A	11.37:g.5247996G>T	ENSP00000333994:p.Phe42Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5204572	NM_000518	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.029800	0.75504	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.91631	-2.88;-2.88	5.1	4.19	0.49359	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.90497	0.7023	L	0.48986	1.54	0.38186	D	0.939757	B	0.27882	0.192	B	0.41619	0.361	D	0.88927	0.3370	9	0.72032	D	0.01	-10.8741	5.8737	0.18816	0.2238:0.0:0.7762:0.0	.	42	P68871	HBB_HUMAN	L	42	ENSP00000333994:F42L;ENSP00000369671:F42L	ENSP00000333994:F42L	F	-	3	2	HBB	5204572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.277000	0.33167	2.812000	0.96745	0.555000	0.69702	TTC		0.517	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518	
OR51B6	390058	broad.mit.edu	37	11	5373598	5373598	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5373598A>C	ENST00000380219.1	+	1	861	c.861A>C	c.(859-861)ccA>ccC	p.P287P	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	287					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTATGAACCCATTTATCTATA	0.393																																					p.P287P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A861C	11						.						124.0	122.0	123.0					11																	5373598		2201	4297	6498	5330174	SO:0001819	synonymous_variant	390058	exon1				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.861A>C	11.37:g.5373598A>C		Somatic		Capture	Illumina HiSeq	Phase_I	5330174	NM_001004750		Silent	SNP	ENST00000380219.1	37	CCDS31379.1																																																																																				0.393	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
OR51Q1	390061	broad.mit.edu	37	11	5443689	5443689	+	Missense_Mutation	SNP	C	C	A	rs553912437		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5443689C>A	ENST00000300778.4	+	1	349	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L87I(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGCAGCTTCTCTGGTTCAA	0.517																																					p.L87I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C259A	11						.						162.0	145.0	151.0					11																	5443689		2201	4297	6498	5400265	SO:0001583	missense	390061	exon1			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.259C>A	11.37:g.5443689C>A	ENSP00000300778:p.Leu87Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5400265	NM_001004757	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.880056	0.33162	.	.	ENSG00000167360	ENST00000300778	T	0.00700	5.82	5.0	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	0.119730	0.38005	N	0.001843	T	0.01092	0.0036	L	0.60845	1.875	0.19575	N	0.999968	P	0.44734	0.842	B	0.40982	0.345	T	0.49560	-0.8927	10	0.87932	D	0	.	7.3529	0.26703	0.0:0.5882:0.0:0.4118	.	87	Q8NH59	O51Q1_HUMAN	I	87	ENSP00000300778:L87I	ENSP00000300778:L87I	L	+	1	0	OR51Q1	5400265	0.014000	0.17966	0.704000	0.30370	0.757000	0.42996	0.424000	0.21330	0.713000	0.32060	0.380000	0.24917	CTC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757	
OR51I1	390063	broad.mit.edu	37	11	5461845	5461845	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5461845C>A	ENST00000380211.1	-	1	899	c.900G>T	c.(898-900)gaG>gaT	p.E300D	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E300D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTGCGGATCTCCTTGGTTT	0.473																																					p.E300D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G900T	11						.						109.0	105.0	106.0					11																	5461845		2201	4297	6498	5418421	SO:0001583	missense	390063	exon1			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.900G>T	11.37:g.5461845C>A	ENSP00000369559:p.Glu300Asp	Somatic		Capture	Illumina HiSeq	Phase_I	5418421	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783092	0.16189	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.37411	1.2	5.47	3.62	0.41486	.	0.226096	0.30820	N	0.008819	T	0.30947	0.0781	L	0.48218	1.51	0.26438	N	0.97583	P	0.34562	0.457	B	0.36534	0.227	T	0.23833	-1.0177	10	0.66056	D	0.02	.	7.4061	0.26991	0.0:0.6761:0.0:0.3239	.	300	Q9H343	O51I1_HUMAN	D	297;300	ENSP00000369559:E300D	ENSP00000439622:E297D	E	-	3	2	OR51I1	5418421	0.128000	0.22383	1.000000	0.80357	0.111000	0.19643	-0.176000	0.09811	0.713000	0.32060	-0.274000	0.10170	GAG		0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
OR51I1	390063	broad.mit.edu	37	11	5462092	5462092	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5462092A>G	ENST00000380211.1	-	1	652	c.653T>C	c.(652-654)cTt>cCt	p.L218P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	218					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L218P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGTAGGAAAGCAGGATGAA	0.463																																					p.L218P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T653C	11						.						72.0	66.0	68.0					11																	5462092		2201	4297	6498	5418668	SO:0001583	missense	390063	exon1			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.653T>C	11.37:g.5462092A>G	ENSP00000369559:p.Leu218Pro	Somatic		Capture	Illumina HiSeq	Phase_I	5418668	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718451	0.48622	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.39787	1.06	5.47	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.138155	0.32719	N	0.005732	T	0.69278	0.3093	H	0.95745	3.715	0.19775	N	0.999953	D	0.69078	0.997	D	0.67548	0.952	T	0.65961	-0.6041	10	0.87932	D	0	.	7.8478	0.29435	0.8544:0.0:0.1456:0.0	.	218	Q9H343	O51I1_HUMAN	P	215;218	ENSP00000369559:L218P	ENSP00000439622:L215P	L	-	2	0	OR51I1	5418668	0.526000	0.26298	0.908000	0.35775	0.980000	0.70556	4.368000	0.59505	2.096000	0.63516	0.450000	0.29827	CTT		0.463	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
OR52D1	390066	broad.mit.edu	37	11	5510547	5510547	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5510547C>A	ENST00000322641.5	+	1	633	c.611C>A	c.(610-612)aCt>aAt	p.T204N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T204N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGGCTAACTGTGGCTCTG	0.493																																					p.T204N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	11						.						298.0	255.0	270.0					11																	5510547		2201	4297	6498	5467123	SO:0001583	missense	390066	exon1			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.611C>A	11.37:g.5510547C>A	ENSP00000326232:p.Thr204Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5467123	NM_001005163	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455616	0.43634	.	.	ENSG00000181609	ENST00000322641	T	0.00152	8.66	5.58	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.085012	0.51477	D	0.000096	T	0.00412	0.0013	M	0.88775	2.98	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.43426	-0.9392	10	0.27785	T	0.31	.	4.793	0.13257	0.0:0.6042:0.1633:0.2325	.	204	Q9H346	O52D1_HUMAN	N	204	ENSP00000326232:T204N	ENSP00000326232:T204N	T	+	2	0	OR52D1	5467123	0.000000	0.05858	0.996000	0.52242	0.939000	0.58152	0.071000	0.14594	1.603000	0.50134	0.655000	0.94253	ACT		0.493	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
UBQLN3	50613	broad.mit.edu	37	11	5529441	5529441	+	Missense_Mutation	SNP	C	C	A	rs2234453	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5529441C>A	ENST00000311659.4	-	2	1495	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	450								p.D450Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCAGAATCTCCCAGCCCC	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		19299	0.0		0.003	False		,,,				2504	0.0				p.D450Y	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1348T	11						.	C	TYR/ASP	2,4400	2.1+/-5.4	0,2,2199	86.0	93.0	91.0		1348	-1.7	0.0	11	dbSNP_98	91	2,8592	2.2+/-6.3	0,2,4295	yes	missense	UBQLN3	NM_017481.2	160	0,4,6494	AA,AC,CC		0.0233,0.0454,0.0308	possibly-damaging	450/656	5529441	4,12992	2201	4297	6498	5486017	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1348G>T	11.37:g.5529441C>A	ENSP00000347997:p.Asp450Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	5486017	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	8.894	0.954678	0.18431	4.54E-4	2.33E-4	ENSG00000175520	ENST00000311659	T	0.36699	1.24	5.04	-1.67	0.08238	.	0.916182	0.08981	N	0.865821	T	0.25865	0.0630	L	0.57536	1.79	0.09310	N	1	B	0.32283	0.362	B	0.25405	0.06	T	0.32161	-0.9917	10	0.62326	D	0.03	1.2111	1.0299	0.01536	0.1452:0.2663:0.3104:0.2781	rs2234453;rs2234453	450	Q9H347	UBQL3_HUMAN	Y	450	ENSP00000347997:D450Y	ENSP00000347997:D450Y	D	-	1	0	UBQLN3	5486017	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	0.034000	0.13776	-0.161000	0.10983	0.655000	0.94253	GAT		0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
OR52H1	390067	broad.mit.edu	37	11	5566278	5566278	+	Missense_Mutation	SNP	C	C	T	rs571302036		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5566278C>T	ENST00000322653.4	-	1	501	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGCTTCGAAAGGAGAT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		24725	0.0		0.0	False		,,,				2504	0.001				p.R159Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	11						.						98.0	88.0	91.0					11																	5566278		2201	4297	6498	5522854	SO:0001583	missense	390067	exon1			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.476G>A	11.37:g.5566278C>T	ENSP00000326259:p.Arg159Gln	Somatic		Capture	Illumina HiSeq	Phase_I	5522854	NM_001005289	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352128	0.41700	.	.	ENSG00000181616	ENST00000322653	T	0.37411	1.2	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000078	T	0.61248	0.2332	H	0.94658	3.565	0.09310	N	1	D	0.54047	0.964	P	0.48921	0.595	T	0.67158	-0.5741	10	0.87932	D	0	.	17.6685	0.88210	0.0:1.0:0.0:0.0	.	159	Q8NGJ2	O52H1_HUMAN	Q	159	ENSP00000326259:R159Q	ENSP00000326259:R159Q	R	-	2	0	OR52H1	5522854	0.010000	0.17322	0.948000	0.38648	0.099000	0.18886	1.746000	0.38288	2.511000	0.84671	0.650000	0.86243	CGA		0.463	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289	
TRIM6	117854	broad.mit.edu	37	11	5625868	5625868	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5625868G>A	ENST00000278302.5	+	3	659				TRIM6_ENST00000380107.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380097.3_Intron|TRIM6_ENST00000506134.1_Intron|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCAAGGGAGACTTTTTCTG	0.483																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						81.0	81.0	81.0					11																	5625868		2201	4297	6498	5582444	SO:0001627	intron_variant	445372	.			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.519+9G>A	11.37:g.5625868G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5582444	.	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Intron	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																				0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM6	117854	broad.mit.edu	37	11	5626762	5626762	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5626762C>T	ENST00000278302.5	+	4	855	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	TRIM6_ENST00000380107.1_Missense_Mutation_p.R213C|TRIM6_ENST00000445329.1_Missense_Mutation_p.R64C|TRIM6_ENST00000380097.3_Missense_Mutation_p.R267C|TRIM6_ENST00000506134.1_Missense_Mutation_p.R64C|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.R64C|TRIM6_ENST00000515022.1_Missense_Mutation_p.R64C|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R267C	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	239					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R267C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGATCTGGAGCGTCGATGTCA	0.507											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R64C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C190T	11						.						63.0	59.0	60.0					11																	5626762		2201	4297	6498	5583338	SO:0001583	missense	445372	exon2			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.715C>T	11.37:g.5626762C>T	ENSP00000278302:p.Arg239Cys	Somatic	627	Capture	Illumina HiSeq	Phase_I	5583338	NM_001198645	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741420	0.49151	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53	4.85	-0.753	0.11068	.	.	.	.	.	T	0.08802	0.0218	M	0.67700	2.07	0.24821	N	0.992585	D;P;B;D;D	0.64830	0.991;0.93;0.013;0.994;0.968	B;P;B;P;B	0.46975	0.446;0.513;0.005;0.533;0.332	T	0.21895	-1.0232	9	0.52906	T	0.07	.	2.8952	0.05688	0.3336:0.3814:0.0:0.2849	.	64;213;267;267;239	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	C	239;64;64;213;267;64;146;64;64;267;267	ENSP00000278302:R239C;ENSP00000414108:R64C;ENSP00000427704:R64C;ENSP00000369450:R213C;ENSP00000369440:R267C;ENSP00000399215:R64C;ENSP00000421802:R64C;ENSP00000421079:R64C;ENSP00000346916:R267C	ENSP00000278302:R239C	R	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5583338	0.392000	0.25229	0.221000	0.23827	0.899000	0.52679	0.596000	0.24044	0.050000	0.15949	-0.140000	0.14226	CGT		0.507	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM6	117854	broad.mit.edu	37	11	5632245	5632245	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5632245C>A	ENST00000278302.5	+	8	1280	c.1140C>A	c.(1138-1140)ttC>ttA	p.F380L	TRIM6_ENST00000380107.1_Missense_Mutation_p.F354L|TRIM6_ENST00000445329.1_Missense_Mutation_p.F205L|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.F408L|TRIM6_ENST00000506134.1_Missense_Mutation_p.F205L|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.F205L|TRIM6_ENST00000515022.1_Missense_Mutation_p.F205L|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	380	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F408L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GACCTACATTCTCTTTCAACC	0.483																																					p.F205L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C615A	11						.						130.0	126.0	128.0					11																	5632245		2201	4297	6498	5588821	SO:0001583	missense	117854	exon6			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1140C>A	11.37:g.5632245C>A	ENSP00000278302:p.Phe380Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5588821	NM_001198645	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128501	0.06753	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.62105	0.08;0.21;0.12;0.05;0.21;0.21;0.21	3.99	-0.0324	0.13905	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33206	0.0855	N	0.11201	0.11	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12156	0.007;0.003;0.005	T	0.18967	-1.0320	9	0.11485	T	0.65	.	3.2502	0.06811	0.1865:0.5171:0.0:0.2964	.	354;408;380	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	L	380;205;354;408;205;287;205;205	ENSP00000278302:F380L;ENSP00000427704:F205L;ENSP00000369450:F354L;ENSP00000369440:F408L;ENSP00000399215:F205L;ENSP00000421802:F205L;ENSP00000421079:F205L	ENSP00000278302:F380L	F	+	3	2	TRIM6	5588821	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	-0.545000	0.06069	0.011000	0.14865	0.467000	0.42956	TTC		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM34	53840	broad.mit.edu	37	11	5653546	5653546	+	5'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5653546C>T	ENST00000514226.1	+	0	322				TRIM6-TRIM34_ENST00000354852.5_Silent_p.S349S|TRIM34_ENST00000429814.2_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_5'Flank	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34						positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S349S(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGAAGAAGCCAGGGAAGCA	0.488											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S349S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	11						.						101.0	93.0	96.0					11																	5653546		2201	4297	6498	5610122	SO:0001623	5_prime_UTR_variant	445372	exon8			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.-16C>T	11.37:g.5653546C>T		Somatic	628	Capture	Illumina HiSeq	Phase_I	5610122	NM_001003819	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP	ENST00000514226.1	37	CCDS31391.1																																																																																				0.488	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
TRIM34	53840	broad.mit.edu	37	11	5653882	5653882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5653882C>A	ENST00000514226.1	+	2	658	c.321C>A	c.(319-321)ttC>ttA	p.F107L	TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F461L|TRIM34_ENST00000429814.2_Missense_Mutation_p.F107L|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F107L	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	107					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F461L(1)|p.F107L(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTACTCTTCTGTAAGGAGG	0.493																																					p.F107L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C321A	11						.						71.0	65.0	67.0					11																	5653882		2201	4297	6498	5610458	SO:0001583	missense	445372	exon2			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.321C>A	11.37:g.5653882C>A	ENSP00000422947:p.Phe107Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5610458	NM_001003827	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877881	0.72294	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.53	1.66	0.24008	Zinc finger, B-box (3);	0.000000	0.35805	N	0.002964	T	0.75932	0.3917	H	0.97051	3.93	0.28583	N	0.910012	D;P;D	0.71674	0.992;0.566;0.998	P;P;D	0.70227	0.833;0.521;0.968	T	0.68435	-0.5409	10	0.87932	D	0	.	5.4998	0.16823	0.0:0.6428:0.0:0.3572	.	107;107;461	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	L	461;107;107;107;461	ENSP00000422947:F107L;ENSP00000402595:F107L;ENSP00000395982:F107L;ENSP00000346916:F461L	ENSP00000402595:F107L	F	+	3	2	TRIM34;TRIM6-TRIM34	5610458	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	1.182000	0.32029	0.494000	0.27859	0.555000	0.69702	TTC		0.493	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
TRIM5	85363	broad.mit.edu	37	11	5699635	5699635	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5699635G>T	ENST00000380034.3	-	4	799	c.543C>A	c.(541-543)gtC>gtA	p.V181V	TRIM5_ENST00000396853.4_Silent_p.V181V|TRIM5_ENST00000396855.3_Silent_p.V181V|TRIM5_ENST00000305836.5_Silent_p.V181V|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.V181V|TRIM5_ENST00000396847.3_Silent_p.V181V	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	181					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V181V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AATCTGCCAAGACGTTGGTTT	0.473																																					p.V181V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C543A	11						.						121.0	116.0	118.0					11																	5699635		2201	4297	6498	5656211	SO:0001819	synonymous_variant	85363	exon4			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.543C>A	11.37:g.5699635G>T		Somatic		Capture	Illumina HiSeq	Phase_I	5656211	NM_033092	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038811	0.08148	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	1.04	0.20106	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.25400	N	0.988452	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	.	5.7358	0.18065	0.4817:0.0:0.5183:0.0	.	.	.	.	Y	58	.	.	S	-	2	0	TRIM5	5656211	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.327000	0.19663	0.368000	0.24481	0.655000	0.94253	TCT		0.473	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034	
TRIM22	10346	broad.mit.edu	37	11	5730394	5730394	+	Missense_Mutation	SNP	A	A	C	rs540482679		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5730394A>C	ENST00000379965.3	+	8	1290	c.1013A>C	c.(1012-1014)gAt>gCt	p.D338A	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D338A(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AATCCATGTGATTTTTCTGCT	0.438																																					p.D334A	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1001C	11						.						164.0	149.0	154.0					11																	5730394		1867	4106	5973	5686970	SO:0001583	missense	10346	exon8			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1013A>C	11.37:g.5730394A>C	ENSP00000369299:p.Asp338Ala	Somatic		Capture	Illumina HiSeq	Phase_I	5686970	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	8.496	0.863239	0.17250	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.60797	0.16	2.25	1.13	0.20643	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.45756	0.1358	N	0.22421	0.69	0.09310	N	1	D;P;P	0.61697	0.99;0.73;0.605	P;B;B	0.56398	0.797;0.391;0.243	T	0.33650	-0.9860	9	0.10636	T	0.68	.	1.8286	0.03125	0.5545:0.0:0.1672:0.2783	.	260;334;338	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	A	338;149;260	ENSP00000369299:D338A	ENSP00000369299:D338A	D	+	2	0	TRIM22	5686970	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	0.445000	0.21677	0.332000	0.23536	0.377000	0.23210	GAT		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
TRIM22	10346	broad.mit.edu	37	11	5730620	5730620	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5730620G>T	ENST00000379965.3	+	8	1516	c.1239G>T	c.(1237-1239)caG>caT	p.Q413H	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	413	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q413H(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TAGGATTACAGAATACATGTG	0.403																																					p.Q409H	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1227T	11						.						77.0	87.0	84.0					11																	5730620		2170	4291	6461	5687196	SO:0001583	missense	10346	exon8			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1239G>T	11.37:g.5730620G>T	ENSP00000369299:p.Gln413His	Somatic		Capture	Illumina HiSeq	Phase_I	5687196	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028454	0.35797	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68903	-0.36	3.78	1.87	0.25490	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.73560	0.3602	L	0.58583	1.82	0.09310	N	1	D;B;D	0.89917	0.998;0.074;1.0	D;B;D	0.80764	0.994;0.104;0.975	T	0.58393	-0.7644	9	0.51188	T	0.08	.	4.8383	0.13476	0.3747:0.0:0.6253:0.0	.	335;409;413	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	H	413;224;335	ENSP00000369299:Q413H	ENSP00000369299:Q413H	Q	+	3	2	TRIM22	5687196	0.000000	0.05858	0.004000	0.12327	0.618000	0.37518	-0.619000	0.05572	0.894000	0.36317	0.467000	0.42956	CAG		0.403	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
OR56B1	387748	broad.mit.edu	37	11	5758225	5758225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5758225G>T	ENST00000317121.3	+	1	545	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R160I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ATGGTGCTGAGAAATGGCTTA	0.443																																					p.R160I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479T	11						.						155.0	132.0	140.0					11																	5758225		2201	4297	6498	5714801	SO:0001583	missense	387748	exon1			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.479G>T	11.37:g.5758225G>T	ENSP00000322939:p.Arg160Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5714801	NM_001005180	B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944761	0.73672	.	.	ENSG00000181023	ENST00000317121	T	0.00044	8.83	5.91	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	U	0.000166	T	0.00580	0.0019	M	0.88512	2.96	0.51233	D	0.999918	D	0.89917	1.0	D	0.85130	0.997	T	0.70189	-0.4940	10	0.87932	D	0	-6.8339	12.8654	0.57936	0.0786:0.0:0.9214:0.0	.	160	Q8NGI3	O56B1_HUMAN	I	160	ENSP00000322939:R160I	ENSP00000322939:R160I	R	+	2	0	OR56B1	5714801	0.314000	0.24563	0.958000	0.39756	0.591000	0.36615	2.163000	0.42377	1.509000	0.48786	0.655000	0.94253	AGA		0.443	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180	
OR52N4	390072	broad.mit.edu	37	11	5776085	5776085	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5776085G>A	ENST00000317254.3	+	1	163	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V39M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGTATGTTGTGGCTATGGT	0.443																																					p.V39M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115A	11						.						151.0	148.0	149.0					11																	5776085		2011	4203	6214	5732661	SO:0001583	missense	390072	exon1			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.115G>A	11.37:g.5776085G>A	ENSP00000323224:p.Val39Met	Somatic		Capture	Illumina HiSeq	Phase_I	5732661	NM_001005175	B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135561	0.37728	.	.	ENSG00000181074	ENST00000317254	T	0.00475	7.17	5.93	3.94	0.45596	.	0.175218	0.27759	N	0.017968	T	0.00384	0.0012	L	0.38531	1.155	0.19945	N	0.999944	B	0.18741	0.03	B	0.22601	0.04	T	0.45411	-0.9263	10	0.56958	D	0.05	.	10.1068	0.42539	0.0727:0.0:0.7911:0.1363	.	39	Q8NGI2	O52N4_HUMAN	M	39	ENSP00000323224:V39M	ENSP00000323224:V39M	V	+	1	0	OR52N4	5732661	0.011000	0.17503	1.000000	0.80357	0.982000	0.71751	-0.051000	0.11885	1.499000	0.48617	0.551000	0.68910	GTG		0.443	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175	
OR52N4	390072	broad.mit.edu	37	11	5776813	5776813	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5776813T>C	ENST00000317254.3	+	1	891	c.843T>C	c.(841-843)aaT>aaC	p.N281N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N281N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTGTAGCCAATATTTATCTGC	0.448																																					p.N281N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T843C	11						.						137.0	130.0	132.0					11																	5776813		1911	4150	6061	5733389	SO:0001819	synonymous_variant	390072	exon1			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.843T>C	11.37:g.5776813T>C		Somatic		Capture	Illumina HiSeq	Phase_I	5733389	NM_001005175	B2RNP8|Q6IF77	Silent	SNP	ENST00000317254.3	37	CCDS44528.1																																																																																				0.448	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175	
OR52N5	390075	broad.mit.edu	37	11	5799163	5799163	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5799163C>T	ENST00000317093.2	-	1	734	c.702G>A	c.(700-702)gcG>gcA	p.A234A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A234A(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGGCTGATCGCTGCCTTGA	0.438																																					p.A234A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G702A	11						.						115.0	109.0	111.0					11																	5799163		2118	4087	6205	5755739	SO:0001819	synonymous_variant	390075	exon1			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.702G>A	11.37:g.5799163C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5755739	NM_001001922	B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	CCDS31397.1																																																																																				0.438	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922	
OR52N5	390075	broad.mit.edu	37	11	5799447	5799447	+	Missense_Mutation	SNP	G	G	A	rs372227128		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5799447G>A	ENST00000317093.2	-	1	450	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140C(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAGCATAACGCAAAGGGTAG	0.502																																					p.R140C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418T	11						.	G	CYS/ARG	1,4255		0,1,2127	135.0	108.0	117.0		418	3.7	0.0	11		117	0,8180		0,0,4090	no	missense	OR52N5	NM_001001922.2	180	0,1,6217	AA,AG,GG		0.0,0.0235,0.0080	possibly-damaging	140/325	5799447	1,12435	2128	4090	6218	5756023	SO:0001583	missense	390075	exon1			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.418C>T	11.37:g.5799447G>A	ENSP00000322866:p.Arg140Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5756023	NM_001001922	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489171	0.26686	2.35E-4	0.0	ENSG00000181009	ENST00000317093	T	0.00922	5.54	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.01976	0.0062	M	0.84585	2.705	0.34128	D	0.664917	B	0.22983	0.078	B	0.18561	0.022	T	0.01940	-1.1243	10	0.72032	D	0.01	.	8.957	0.35823	0.0:0.0:0.6584:0.3416	.	140	Q8NH56	O52N5_HUMAN	C	140	ENSP00000322866:R140C	ENSP00000322866:R140C	R	-	1	0	OR52N5	5756023	0.000000	0.05858	0.045000	0.18777	0.717000	0.41224	0.438000	0.21559	2.066000	0.61787	0.494000	0.49563	CGT		0.502	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922	
OR52N1	79473	broad.mit.edu	37	11	5809407	5809407	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5809407G>T	ENST00000317078.1	-	1	639	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L214M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAATGCACAGGATATCAAAG	0.473																																					p.L214M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C640A	11						.						139.0	124.0	129.0					11																	5809407		2201	4296	6497	5765983	SO:0001583	missense	79473	exon1			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.640C>A	11.37:g.5809407G>T	ENSP00000322823:p.Leu214Met	Somatic		Capture	Illumina HiSeq	Phase_I	5765983	NM_001001913	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183483	0.38609	.	.	ENSG00000181001	ENST00000317078	T	0.44083	0.93	4.71	-8.51	0.00923	GPCR, rhodopsin-like superfamily (1);	0.171603	0.27447	N	0.019327	T	0.50394	0.1613	M	0.65498	2.005	0.09310	N	1	P	0.44659	0.84	P	0.57620	0.824	T	0.60182	-0.7313	10	0.54805	T	0.06	.	15.6714	0.77279	0.1401:0.0:0.757:0.1029	.	214	Q8NH53	O52N1_HUMAN	M	214	ENSP00000322823:L214M	ENSP00000322823:L214M	L	-	1	2	OR52N1	5765983	0.000000	0.05858	0.828000	0.32881	0.793000	0.44817	-5.135000	0.00148	-1.624000	0.01556	-0.320000	0.08662	CTG		0.473	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
OR52E6	390078	broad.mit.edu	37	11	5862772	5862772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5862772G>A	ENST00000329322.5	-	1	355	c.356C>T	c.(355-357)gCc>gTc	p.A119V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.A123V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A123V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGCCATGGCCACCAATAC	0.448																																					p.A119V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	11						.						190.0	176.0	181.0					11																	5862772		2201	4296	6497	5819348	SO:0001583	missense	390078	exon1			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.356C>T	11.37:g.5862772G>A	ENSP00000328878:p.Ala119Val	Somatic		Capture	Illumina HiSeq	Phase_I	5819348	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311656	0.23821	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.01572	4.76;4.76	3.37	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.109676	0.40302	N	0.001134	T	0.01870	0.0059	L	0.39566	1.225	0.28508	N	0.913681	B	0.24675	0.109	B	0.24394	0.053	T	0.36311	-0.9753	10	0.42905	T	0.14	.	8.1922	0.31374	0.2044:0.0:0.7956:0.0	.	119	Q96RD3	O52E6_HUMAN	V	119;123	ENSP00000328878:A119V;ENSP00000369279:A123V	ENSP00000328878:A119V	A	-	2	0	OR52E6	5819348	0.011000	0.17503	0.135000	0.22099	0.402000	0.30811	1.287000	0.33284	0.124000	0.18369	0.551000	0.68910	GCC		0.448	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	
OR52E6	390078	broad.mit.edu	37	11	5863125	5863125	+	Start_Codon_SNP	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:5863125C>A	ENST00000329322.5	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M5I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M5I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCTATAGGCATTCTTTCTG	0.418																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	11						.						54.0	52.0	52.0					11																	5863125		2155	4285	6440	5819701	SO:0001582	initiator_codon_variant	390078	exon1			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.3G>T	11.37:g.5863125C>A	ENSP00000328878:p.Met1Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5819701	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393752	0.42410	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.39229	9.9;1.09	3.34	1.42	0.22433	.	0.680193	0.13912	N	0.354218	T	0.57961	0.2089	.	.	.	0.09310	N	1	D	0.65815	0.995	D	0.75020	0.985	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2245	0.26007	0.0:0.7674:0.0:0.2326	.	1	Q96RD3	O52E6_HUMAN	I	1;5	ENSP00000328878:M1I;ENSP00000369279:M5I	ENSP00000328878:M1I	M	-	3	0	OR52E6	5819701	0.996000	0.38824	0.006000	0.13384	0.142000	0.21351	3.411000	0.52672	0.237000	0.21200	0.551000	0.68910	ATG		0.418	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	Missense_Mutation
C11orf42	160298	broad.mit.edu	37	11	6232257	6232257	+	Silent	SNP	C	C	T	rs375053030		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6232257C>T	ENST00000316375.2	+	3	1037	c.987C>T	c.(985-987)ttC>ttT	p.F329F	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	329								p.F329F(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGAGTTCGACAGTGACG	0.627																																					p.F329F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	11						.	C		0,4398		0,0,2199	28.0	32.0	30.0		987	4.8	1.0	11		30	1,8581		0,1,4290	no	coding-synonymous	C11orf42	NM_173525.2		0,1,6489	TT,TC,CC		0.0117,0.0,0.0077		329/334	6232257	1,12979	2199	4291	6490	6188833	SO:0001819	synonymous_variant	160298	exon3			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.987C>T	11.37:g.6232257C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6188833	NM_173525		Silent	SNP	ENST00000316375.2	37	CCDS7759.1																																																																																				0.627	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525	
FAM160A2	84067	broad.mit.edu	37	11	6239044	6239044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6239044C>T	ENST00000449352.2	-	9	2035	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R605Q|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R591Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	591					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R605Q(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTTAGTCCGGGAGCCAAA	0.667																																					p.R591Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G1772A	11						.						35.0	35.0	35.0					11																	6239044		2201	4296	6497	6195620	SO:0001583	missense	84067	exon9				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1772G>A	11.37:g.6239044C>T	ENSP00000416918:p.Arg591Gln	Somatic		Capture	Illumina HiSeq	Phase_I	6195620	NM_001098794	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236984	0.58886	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.52295	0.67;0.67;0.67	5.16	5.16	0.70880	.	0.698200	0.14387	N	0.322754	T	0.56659	0.2000	L	0.56769	1.78	0.31859	N	0.621249	D;D;D	0.76494	0.995;0.98;0.999	P;B;P	0.59115	0.636;0.294;0.852	T	0.52465	-0.8572	10	0.12103	T	0.63	-8.8008	12.4521	0.55682	0.1676:0.8324:0.0:0.0	.	591;591;605	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	591;516;605;591	ENSP00000416918:R591Q;ENSP00000265978:R605Q;ENSP00000431773:R591Q	ENSP00000265978:R605Q	R	-	2	0	FAM160A2	6195620	0.954000	0.32549	1.000000	0.80357	0.980000	0.70556	0.241000	0.18065	2.692000	0.91855	0.561000	0.74099	CGG		0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
FAM160A2	84067	broad.mit.edu	37	11	6243844	6243844	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6243844A>G	ENST00000449352.2	-	6	1287				FAM160A2_ENST00000265978.4_Intron|FAM160A2_ENST00000524416.1_Intron			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.?(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAGGTCTGCACAAAAAGAAG	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						75.0	67.0	69.0					11																	6243844		2201	4296	6497	6200420	SO:0001627	intron_variant	84067	.				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1024-5T>C	11.37:g.6243844A>G		Somatic		Capture	Illumina HiSeq	Phase_I	6200420	.	Q9C0A4|Q9H0N3|Q9H624	Intron	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.507	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
FAM160A2	84067	broad.mit.edu	37	11	6245047	6245047	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6245047C>T	ENST00000449352.2	-	3	833	c.570G>A	c.(568-570)gaG>gaA	p.E190E	FAM160A2_ENST00000265978.4_Silent_p.E190E|FAM160A2_ENST00000524416.1_Silent_p.E190E			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	190					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.E190E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAATGAAGGCTCCTGGGCCA	0.597																																					p.E190E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	11						.						69.0	71.0	71.0					11																	6245047		2201	4296	6497	6201623	SO:0001819	synonymous_variant	84067	exon3				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.570G>A	11.37:g.6245047C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6201623	NM_001098794	Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
CNGA4	1262	broad.mit.edu	37	11	6261477	6261477	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6261477C>T	ENST00000379936.2	+	4	568	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	151					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.F151F(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGCCTCTTCGAGGCCTTCG	0.592																																					p.F151F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	11						.						74.0	82.0	79.0					11																	6261477		2201	4296	6497	6218053	SO:0001819	synonymous_variant	1262	exon4			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.453C>T	11.37:g.6261477C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6218053	NM_001037329		Silent	SNP	ENST00000379936.2	37	CCDS31408.1																																																																																				0.592	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
CNGA4	1262	broad.mit.edu	37	11	6261751	6261751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6261751G>A	ENST00000379936.2	+	4	842	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	243					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E243K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGAAGAAGAGTACCTCTT	0.552																																					p.E243K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	11						.						77.0	72.0	74.0					11																	6261751		2201	4296	6497	6218327	SO:0001583	missense	1262	exon4			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.727G>A	11.37:g.6261751G>A	ENSP00000369268:p.Glu243Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6218327	NM_001037329		Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133543	0.77662	.	.	ENSG00000132259	ENST00000379936	D	0.97731	-4.51	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.982	D	0.98722	1.0709	10	0.87932	D	0	.	17.8807	0.88840	0.0:0.0:1.0:0.0	.	243;203	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	K	243	ENSP00000369268:E243K	ENSP00000369268:E243K	E	+	1	0	CNGA4	6218327	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.420000	0.97426	2.640000	0.89533	0.561000	0.74099	GAG		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
CNGA4	1262	broad.mit.edu	37	11	6265490	6265490	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6265490T>C	ENST00000379936.2	+	6	1694	c.1579T>C	c.(1579-1581)Tac>Cac	p.Y527H		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	527					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y527H(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGATTGCTTACCGCATTGA	0.587																																					p.Y527H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1579C	11						.						72.0	72.0	72.0					11																	6265490		2201	4296	6497	6222066	SO:0001583	missense	1262	exon6			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1579T>C	11.37:g.6265490T>C	ENSP00000369268:p.Tyr527His	Somatic		Capture	Illumina HiSeq	Phase_I	6222066	NM_001037329		Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849239	0.32699	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.28	5.28	0.74379	.	0.519334	0.19898	N	0.103579	D	0.90707	0.7084	N	0.11427	0.14	0.26697	N	0.971241	B	0.10296	0.003	B	0.09377	0.004	T	0.81575	-0.0870	10	0.38643	T	0.18	.	6.4565	0.21932	0.0:0.1641:0.0:0.8359	.	527	Q8IV77	CNGA4_HUMAN	H	527	ENSP00000369268:Y527H	ENSP00000369268:Y527H	Y	+	1	0	CNGA4	6222066	0.913000	0.31002	0.979000	0.43373	0.592000	0.36648	2.390000	0.44416	2.230000	0.72887	0.514000	0.50259	TAC		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
APBB1	322	broad.mit.edu	37	11	6415595	6415595	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6415595C>T	ENST00000609360.1	-	0	2642				SMPD1_ENST00000527275.1_Missense_Mutation_p.P551S|SMPD1_ENST00000356761.2_Missense_Mutation_p.P496S|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000299397.3_Missense_Mutation_p.P508S|SMPD1_ENST00000342245.4_Missense_Mutation_p.P552S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.P508S(1)|p.P552S(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAACACACTGCCTACCGCCTG	0.572																																					p.P551S	GBM(147;1810 2556 5672 39622)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1651T	11						.						110.0	100.0	103.0					11																	6415595		2201	4296	6497	6372171	SO:0001628	intergenic_variant	6609	exon6			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415595C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6372171	NM_001007593	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	15.33	2.800346	0.50315	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	4.88	3.98	0.46160	.	0.070284	0.56097	D	0.000024	D	0.93956	0.8065	M	0.85197	2.74	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;0.998	D;D;D	0.74348	0.983;0.911;0.919	D	0.94091	0.7353	10	0.72032	D	0.01	-21.5074	10.9222	0.47171	0.0:0.9088:0.0:0.0912	.	551;508;550	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	S	508;496;552;551	ENSP00000299397:P508S;ENSP00000349203:P496S;ENSP00000340409:P552S;ENSP00000435350:P551S	ENSP00000299397:P508S	P	+	1	0	SMPD1	6372171	1.000000	0.71417	0.967000	0.41034	0.052000	0.14988	7.331000	0.79192	1.290000	0.44636	0.462000	0.41574	CCT		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
TRIM3	10612	broad.mit.edu	37	11	6470394	6470394	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6470394C>T	ENST00000525074.1	-	12	2493	c.2099G>A	c.(2098-2100)gGc>gAc	p.G700D	TRIM3_ENST00000537602.1_Missense_Mutation_p.G622D|TRIM3_ENST00000536344.1_Missense_Mutation_p.G581D|TRIM3_ENST00000359518.3_Missense_Mutation_p.G700D|TRIM3_ENST00000345851.3_Missense_Mutation_p.G700D	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	700					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G700D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAAGGAGCCAGAGCTGTC	0.562																																					p.G700D	Melanoma(6;5 510 1540 25169 29084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2099A	11						.						98.0	84.0	88.0					11																	6470394		2201	4296	6497	6426970	SO:0001583	missense	10612	exon13			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2099G>A	11.37:g.6470394C>T	ENSP00000433102:p.Gly700Asp	Somatic		Capture	Illumina HiSeq	Phase_I	6426970	NM_006458	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387095	0.82902	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.62326	D	0.03	-23.349	16.6192	0.84925	0.0:1.0:0.0:0.0	.	581;700	F5H2Q8;O75382	.;TRIM3_HUMAN	D	700;700;689;622;700;581	ENSP00000433102:G700D;ENSP00000340797:G700D;ENSP00000441091:G622D;ENSP00000352508:G700D;ENSP00000445460:G581D	ENSP00000337094:G689D	G	-	2	0	TRIM3	6426970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.492000	0.84095	0.563000	0.77884	GGC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
ARFIP2	23647	broad.mit.edu	37	11	6501308	6501308	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6501308A>C	ENST00000254584.2	-	3	183				ARFIP2_ENST00000525235.1_Intron|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000396777.3_Intron|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2						actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.?(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTATAGGCCAGAGAAGAGGG	0.507																																					.	Melanoma(119;796 1674 9049 20480 24794)											.	.	1	Unknown(1)	large_intestine(1)	.	11						.						103.0	98.0	100.0					11																	6501308		2201	4296	6497	6457884	SO:0001627	intron_variant	23647	.			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.100-10T>G	11.37:g.6501308A>C		Somatic		Capture	Illumina HiSeq	Phase_I	6457884	.	B4DX86|B4E306|D3DQT5	Intron	SNP	ENST00000254584.2	37	CCDS7765.1																																																																																				0.507	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402	
DNHD1	144132	broad.mit.edu	37	11	6588671	6588671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6588671C>T	ENST00000527990.2	+	34	11932	c.11932C>T	c.(11932-11934)Cga>Tga	p.R3978*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R3978*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3978					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.R3978*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGATGTGGCTCGACCGGCCTG	0.592																																					p.R3978X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C11932T	11						.						28.0	38.0	35.0					11																	6588671		2009	4174	6183	6545247	SO:0001587	stop_gained	144132	exon36			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11932C>T	11.37:g.6588671C>T	ENSP00000436180:p.Arg3978*	Somatic		Capture	Illumina HiSeq	Phase_I	6545247	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	53	21.357918	0.99939	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.54	2.42	0.29668	.	0.135344	0.29307	N	0.012527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-9.9353	5.8751	0.18824	0.3476:0.5496:0.0:0.1028	.	.	.	.	X	3978;3978;246;246	.	ENSP00000254579:R3978X	R	+	1	2	DNHD1	6545247	0.154000	0.22792	0.776000	0.31678	0.133000	0.20885	0.986000	0.29590	1.066000	0.40716	0.561000	0.74099	CGA		0.592	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DNHD1	144132	broad.mit.edu	37	11	6593220	6593220	+	3'UTR	SNP	C	C	T	rs377449348	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6593220C>T	ENST00000527990.2	+	0	14266				DNHD1_ENST00000254579.6_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1						microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCTTGAGCCCGTCTACCAAA	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19292	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	11						.	C		1,4021		0,1,2010	114.0	117.0	116.0			2.7	0.5	11		116	0,8298		0,0,4149	no	utr-3	DNHD1	NM_144666.2		0,1,6159	TT,TC,CC		0.0,0.0249,0.0081			6593220	1,12319	2011	4149	6160	6549796	SO:0001624	3_prime_UTR_variant	144132	.			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.*4C>T	11.37:g.6593220C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6549796	.	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	3'UTR	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																				0.502	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
ILK	3611	broad.mit.edu	37	11	6630962	6630962	+	Silent	SNP	C	C	T	rs147558204		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6630962C>T	ENST00000396751.2	+	9	1320	c.864C>T	c.(862-864)gtC>gtT	p.V288V	ILK_ENST00000526711.1_3'UTR|RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000299421.4_Silent_p.V288V|ILK_ENST00000528995.1_Silent_p.V227V|ILK_ENST00000420936.2_Silent_p.V288V|ILK_ENST00000537806.1_Silent_p.V154V	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.V288V(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CAGATTTCGTCGTGGACCAGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		22053	0.0		0.001	False		,,,				2504	0.0				p.V288V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	11						.	C	,,	0,4402		0,0,2201	135.0	135.0	135.0		864,864,864	-4.0	0.9	11	dbSNP_134	135	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	ILK	NM_001014794.1,NM_001014795.1,NM_004517.2	,,	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	,,	288/453,288/453,288/453	6630962	2,12992	2201	4296	6497	6587538	SO:0001819	synonymous_variant	3611	exon10			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.864C>T	11.37:g.6630962C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6587538	NM_004517	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	ENST00000396751.2	37	CCDS7768.1																																																																																				0.517	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517	
DCHS1	8642	broad.mit.edu	37	11	6644892	6644892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6644892C>T	ENST00000299441.3	-	21	8426	c.8015G>A	c.(8014-8016)cGa>cAa	p.R2672Q	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2672	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2672Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCTGATGTCGAGCCTGGGT	0.572																																					p.R2672Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8015A	11						.						57.0	48.0	51.0					11																	6644892		2201	4296	6497	6601468	SO:0001583	missense	8642	exon21			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8015G>A	11.37:g.6644892C>T	ENSP00000299441:p.Arg2672Gln	Somatic		Capture	Illumina HiSeq	Phase_I	6601468	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678113	0.14841	.	.	ENSG00000166341	ENST00000299441	T	0.49432	0.78	5.4	0.0896	0.14460	Cadherin (4);Cadherin-like (1);	0.529195	0.14257	N	0.331065	T	0.23289	0.0563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20273	-1.0280	10	0.09590	T	0.72	.	3.9162	0.09224	0.2397:0.3107:0.0:0.4497	.	2672	Q96JQ0	PCD16_HUMAN	Q	2672	ENSP00000299441:R2672Q	ENSP00000299441:R2672Q	R	-	2	0	DCHS1	6601468	0.000000	0.05858	0.996000	0.52242	0.981000	0.71138	0.030000	0.13688	0.130000	0.18549	-0.142000	0.14014	CGA		0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR2D3	120775	broad.mit.edu	37	11	6942807	6942807	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:6942807A>C	ENST00000317834.3	+	1	603	c.575A>C	c.(574-576)cAc>cCc	p.H192P		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H192P(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAATCAATCACTACTTTTGT	0.493																																					p.H192P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A575C	11						.						118.0	102.0	107.0					11																	6942807		2201	4296	6497	6899383	SO:0001583	missense	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.575A>C	11.37:g.6942807A>C	ENSP00000320560:p.His192Pro	Somatic		Capture	Illumina HiSeq	Phase_I	6899383	NM_001004684	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900004	0.72754	.	.	ENSG00000178358	ENST00000317834	T	0.00188	8.59	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000301	T	0.00754	0.0025	H	0.96861	3.895	0.46241	D	0.998944	P	0.49961	0.93	P	0.56434	0.798	T	0.44982	-0.9292	10	0.87932	D	0	-34.1465	13.3025	0.60334	1.0:0.0:0.0:0.0	.	192	Q8NGH3	OR2D3_HUMAN	P	192	ENSP00000320560:H192P	ENSP00000320560:H192P	H	+	2	0	OR2D3	6899383	0.807000	0.29009	0.560000	0.28344	0.989000	0.77384	4.689000	0.61723	2.310000	0.77875	0.533000	0.62120	CAC		0.493	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
ZNF214	7761	broad.mit.edu	37	11	7023974	7023974	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7023974G>T	ENST00000278314.4	-	2	408	c.93C>A	c.(91-93)gtC>gtA	p.V31V	ZNF214_ENST00000536068.1_Silent_p.V31V|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V31V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCCACATGACCTCCCTGT	0.388																																					p.V31V	Ovarian(22;251 657 736 21522 46864)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C93A	11						.						174.0	162.0	166.0					11																	7023974		2201	4296	6497	6980550	SO:0001819	synonymous_variant	7761	exon2			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.93C>A	11.37:g.7023974G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6980550	NM_013249	B2R8Q1	Silent	SNP	ENST00000278314.4	37	CCDS31418.1																																																																																				0.388	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1		
NLRP14	338323	broad.mit.edu	37	11	7068058	7068058	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7068058G>A	ENST00000299481.4	+	5	2464	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	706					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.K706K(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AACTACAAAAGCTACTGTAAG	0.383																																					p.K706K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2118A	11						.						122.0	114.0	116.0					11																	7068058		2201	4296	6497	7024634	SO:0001819	synonymous_variant	338323	exon5			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2118G>A	11.37:g.7068058G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7024634	NM_176822	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.383	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
SYT9	143425	broad.mit.edu	37	11	7324274	7324274	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7324274C>T	ENST00000318881.6	+	2	387	c.150C>T	c.(148-150)atC>atT	p.I50I	SYT9_ENST00000396716.2_Silent_p.I18I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	50					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.I50I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTGCAGATATCTCAGTGAGCC	0.542																																					p.I50I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150T	11						.						161.0	144.0	150.0					11																	7324274		2201	4296	6497	7280850	SO:0001819	synonymous_variant	143425	exon2			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.150C>T	11.37:g.7324274C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7280850	NM_175733		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.542	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
SYT9	143425	broad.mit.edu	37	11	7439294	7439294	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7439294C>A	ENST00000318881.6	+	5	1509	c.1272C>A	c.(1270-1272)gtC>gtA	p.V424V		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	424	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.V424V(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AAGCCATAGTCTTTGATGTCC	0.463																																					p.V424V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1272A	11						.						178.0	149.0	159.0					11																	7439294		2201	4296	6497	7395870	SO:0001819	synonymous_variant	143425	exon5			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1272C>A	11.37:g.7439294C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7395870	NM_175733		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.463	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
OLFML1	283298	broad.mit.edu	37	11	7531359	7531359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7531359G>A	ENST00000329293.3	+	3	1543	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	OLFML1_ENST00000530135.1_Nonsense_Mutation_p.W383*|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	383	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.W383*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCTATGCCTGGAATGAAGGAA	0.463																																					p.W383X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1149A	11						.						55.0	50.0	52.0					11																	7531359		2201	4296	6497	7487935	SO:0001587	stop_gained	283298	exon3			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1149G>A	11.37:g.7531359G>A	ENSP00000332511:p.Trp383*	Somatic		Capture	Illumina HiSeq	Phase_I	7487935	NM_198474	B4DP03|Q569G4	Nonsense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	38	7.039611	0.98021	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9247	0.86173	0.0:0.0:1.0:0.0	.	.	.	.	X	383	.	ENSP00000332511:W383X	W	+	3	0	OLFML1	7487935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.595000	0.87683	0.563000	0.77884	TGG		0.463	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
OR5P3	120066	broad.mit.edu	37	11	7847319	7847319	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7847319G>T	ENST00000328375.1	-	1	200	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A67A(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCTACAAAGGCCAAATGGC	0.433																																					p.A67A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201A	11						.						107.0	105.0	106.0					11																	7847319		2186	4296	6482	7803895	SO:0001819	synonymous_variant	120066	exon1			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.201C>A	11.37:g.7847319G>T		Somatic		Capture	Illumina HiSeq	Phase_I	7803895	NM_153445	Q6IFE1|Q8NGM2	Silent	SNP	ENST00000328375.1	37	CCDS7783.1																																																																																				0.433	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445	
OR10A6	390093	broad.mit.edu	37	11	7949929	7949929	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:7949929A>C	ENST00000309838.2	-	1	280	c.281T>G	c.(280-282)tTt>tGt	p.F94C		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F94C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGCCCCCAAAAGAAATTGT	0.428																																					p.F94C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T281G	11						.						91.0	94.0	93.0					11																	7949929		2201	4296	6497	7906505	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.281T>G	11.37:g.7949929A>C	ENSP00000312470:p.Phe94Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7906505	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	7.789	0.711133	0.15239	.	.	ENSG00000175393	ENST00000309838	T	0.00335	8.06	4.14	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.153293	0.30003	N	0.010656	T	0.00608	0.0020	M	0.93462	3.42	0.09310	N	0.999998	P	0.45348	0.856	P	0.45138	0.471	T	0.17440	-1.0369	10	0.87932	D	0	.	11.4353	0.50064	1.0:0.0:0.0:0.0	.	94	Q8NH74	O10A6_HUMAN	C	94	ENSP00000312470:F94C	ENSP00000312470:F94C	F	-	2	0	OR10A6	7906505	0.014000	0.17966	0.170000	0.22879	0.054000	0.15201	1.304000	0.33482	1.864000	0.54056	0.533000	0.62120	TTT		0.428	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
TUB	7275	broad.mit.edu	37	11	8060420	8060420	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:8060420G>A	ENST00000305253.4	+	0	241				RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor						multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTGTGGCCACGATGGGGGCCA	0.542																																					.												.	.	0			.	11						.						140.0	138.0	139.0					11																	8060420		2201	4296	6497	8016996			7275	.			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690		11.37:g.8060420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8016996	.	D3DQU4|O00293|Q6B007	5'UTR	SNP	ENST00000305253.4	37	CCDS7786.1																																																																																				0.542	TUB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385822.1	NM_003320	
RIC3	79608	broad.mit.edu	37	11	8132564	8132564	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:8132564C>A	ENST00000309737.6	-	6	790	c.791G>T	c.(790-792)aGa>aTa	p.R264I	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_Missense_Mutation_p.R102I|RIC3_ENST00000539720.1_Missense_Mutation_p.R215I|RIC3_ENST00000425599.2_Missense_Mutation_p.R183I|RIC3_ENST00000343202.4_Missense_Mutation_p.R263I|RIC3_ENST00000335425.7_Missense_Mutation_p.R82I			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	264					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R263I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CATTCCCATTCTTTCAGCTAT	0.433																																					p.R263I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788T	11						.						118.0	117.0	117.0					11																	8132564		2201	4296	6497	8089140	SO:0001583	missense	79608	exon6				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.791G>T	11.37:g.8132564C>A	ENSP00000308820:p.Arg264Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8089140	NM_024557	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479070	0.63849	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.41758	1.06;1.06;1.07;0.99;1.04	6.06	5.14	0.70334	.	0.323197	0.30519	N	0.009452	T	0.55657	0.1934	M	0.67953	2.075	0.48830	D	0.999718	D;P;D;P;P;D	0.61080	0.972;0.937;0.979;0.874;0.874;0.989	P;P;P;P;P;P	0.60473	0.739;0.735;0.875;0.549;0.549;0.875	T	0.57814	-0.7746	10	0.52906	T	0.07	.	8.9634	0.35860	0.0:0.7782:0.0:0.2218	.	292;183;82;264;263;102	B7Z1U4;B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;.;RIC3_HUMAN;.;.	I	102;82;263;264;292;215;183;292	ENSP00000344904:R263I;ENSP00000308820:R264I;ENSP00000443871:R215I;ENSP00000395320:R183I;ENSP00000431658:R292I	ENSP00000308820:R264I	R	-	2	0	RIC3	8089140	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	2.368000	0.44222	1.547000	0.49401	0.655000	0.94253	AGA		0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557	
STK33	65975	broad.mit.edu	37	11	8478990	8478990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:8478990C>A	ENST00000447869.1	-	5	1513	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	STK33_ENST00000315204.1_Nonsense_Mutation_p.E199*|STK33_ENST00000396672.1_Nonsense_Mutation_p.E199*|STK33_ENST00000396673.1_Nonsense_Mutation_p.E199*|STK33_ENST00000358872.3_Nonsense_Mutation_p.E12*|STK33_ENST00000534493.1_Nonsense_Mutation_p.E158*			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E199*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCTTTGAGTTCTCCATCCTCA	0.353																																					p.E199X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G595T	11						.						130.0	121.0	124.0					11																	8478990		2201	4295	6496	8435566	SO:0001587	stop_gained	65975	exon7			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.595G>T	11.37:g.8478990C>A	ENSP00000416750:p.Glu199*	Somatic		Capture	Illumina HiSeq	Phase_I	8435566	NM_030906	Q658S6|Q8NEF5	Nonsense_Mutation	SNP	ENST00000447869.1	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716356	0.68844	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559	.	.	.	4.86	4.86	0.63082	.	0.218641	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1697	0.81793	0.0:1.0:0.0:0.0	.	.	.	.	X	199;199;199;12;199;158;111;158;158	.	ENSP00000320754:E199X	E	-	1	0	STK33	8435566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.360000	0.73064	2.256000	0.74724	0.460000	0.39030	GAA		0.353	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906	
ST5	6764	broad.mit.edu	37	11	8739339	8739339	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:8739339C>T	ENST00000534127.1	-	8	1963	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	ST5_ENST00000357665.1_Silent_p.L526L|ST5_ENST00000530991.1_5'UTR|ST5_ENST00000526099.1_Silent_p.L39L|ST5_ENST00000526757.1_Silent_p.L106L|ST5_ENST00000313726.6_Silent_p.L526L|ST5_ENST00000530438.1_Silent_p.L106L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	526					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L526L(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ACATCCTGTGCAAAGAGTCCA	0.537																																					p.L526L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1578A	11						.						183.0	135.0	151.0					11																	8739339		2201	4296	6497	8695915	SO:0001819	synonymous_variant	6764	exon8			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1578G>A	11.37:g.8739339C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8695915	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	CCDS7791.1																																																																																				0.537	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
SCUBE2	57758	broad.mit.edu	37	11	9052293	9052293	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:9052293C>A	ENST00000309263.3	-	17	2327				RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Intron|SCUBE2_ENST00000457346.2_Intron|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGCAAGCTGCCAAGTACTCA	0.547																																					.												.	.	0			.	11						.						103.0	106.0	105.0					11																	9052293		2201	4296	6497	9008869	SO:0001627	intron_variant	57758	.			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2254+11G>T	11.37:g.9052293C>A		Somatic		Capture	Illumina HiSeq	Phase_I	9008869	.	Q2NKQ8|Q6ZWI1	Intron	SNP	ENST00000309263.3	37																																																																																					0.547	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
SBF2	81846	broad.mit.edu	37	11	9867118	9867118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:9867118G>T	ENST00000256190.8	-	24	3241	c.3104C>A	c.(3103-3105)tCt>tAt	p.S1035Y	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1035					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1035Y(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTACCGAAAAGAAGTGTTCTT	0.398																																					p.S1035Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3104A	11						.						139.0	134.0	136.0					11																	9867118		2201	4294	6495	9823694	SO:0001583	missense	81846	exon24			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3104C>A	11.37:g.9867118G>T	ENSP00000256190:p.Ser1035Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	9823694	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430562	0.83776	.	.	ENSG00000133812	ENST00000256190	D	0.87571	-2.27	6.02	6.02	0.97574	.	0.103891	0.64402	D	0.000002	D	0.91680	0.7370	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.91465	0.5192	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1035	Q86WG5	MTMRD_HUMAN	Y	1035	ENSP00000256190:S1035Y	ENSP00000256190:S1035Y	S	-	2	0	SBF2	9823694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.842000	0.75379	2.865000	0.98341	0.655000	0.94253	TCT		0.398	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
COPB1	1315	broad.mit.edu	37	11	14515315	14515315	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:14515315G>A	ENST00000249923.3	-	4	664	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	COPB1_ENST00000439561.2_Missense_Mutation_p.R122C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	122					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R122C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAAAGAAAACGAAGAGTAGAT	0.328																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	11						.						67.0	63.0	65.0					11																	14515315		2200	4294	6494	14471891	SO:0001583	missense	1315	exon4			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.364C>T	11.37:g.14515315G>A	ENSP00000249923:p.Arg122Cys	Somatic		Capture	Illumina HiSeq	Phase_I	14471891	NM_016451	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231750	0.95207	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80779	-0.1230	10	0.87932	D	0	.	19.3218	0.94245	0.0:0.0:1.0:0.0	.	122	P53618	COPB_HUMAN	C	122	ENSP00000249923:R122C;ENSP00000397873:R122C;ENSP00000436383:R122C;ENSP00000431530:R122C;ENSP00000436401:R122C	ENSP00000249923:R122C	R	-	1	0	COPB1	14471891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.647000	0.89833	0.455000	0.32223	CGT		0.328	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
PSMA1	5682	broad.mit.edu	37	11	14535995	14535995	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:14535995G>A	ENST00000396394.2	-	5	693	c.297C>T	c.(295-297)ttC>ttT	p.F99F	PSMA1_ENST00000396393.1_Silent_p.F99F|PSMA1_ENST00000530457.1_Silent_p.F74F|PSMA1_ENST00000419365.2_Silent_p.F99F|PSMA1_ENST00000418988.2_Silent_p.F105F|PSMA1_ENST00000555531.1_Silent_p.F99F	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.F105F(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GTGGTCTATCGAATACAAATC	0.318																																					p.F105F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	11						.						50.0	47.0	48.0					11																	14535995		2200	4293	6493	14492571	SO:0001819	synonymous_variant	5682	exon6			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.297C>T	11.37:g.14535995G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14492571	NM_148976	A8K400|Q53YE8|Q9BRV9	Silent	SNP	ENST00000396394.2	37	CCDS7816.1																																																																																				0.318	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786	
PDE3B	5140	broad.mit.edu	37	11	14853177	14853177	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:14853177T>C	ENST00000282096.4	+	9	2309				PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.?(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TGTTTCCCTGTATGTACAGAT	0.274																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						50.0	54.0	52.0					11																	14853177		2199	4291	6490	14809753	SO:0001627	intron_variant	5140	.			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1957-9T>C	11.37:g.14853177T>C		Somatic		Capture	Illumina HiSeq	Phase_I	14809753	.	B7ZM37|O00639|Q14408|Q6SEI4	Intron	SNP	ENST00000282096.4	37	CCDS7817.1																																																																																				0.274	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
CYP2R1	120227	broad.mit.edu	37	11	14901970	14901970	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:14901970G>T	ENST00000334636.5	-	3	758	c.712C>A	c.(712-714)Ctg>Atg	p.L238M	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	238					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.L238M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CCAAAAGGCAGGATGCCAATC	0.408																																					p.L238M	NSCLC(173;1584 2058 26117 29365 41534)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712A	11						.						75.0	72.0	73.0					11																	14901970		2200	4293	6493	14858546	SO:0001583	missense	120227	exon3			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.712C>A	11.37:g.14901970G>T	ENSP00000334592:p.Leu238Met	Somatic		Capture	Illumina HiSeq	Phase_I	14858546	NM_024514	Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582636	0.46006	.	.	ENSG00000186104	ENST00000334636	T	0.71461	-0.57	6.17	0.0218	0.14130	.	0.357603	0.29198	N	0.012849	T	0.74566	0.3733	M	0.69823	2.125	0.47621	D	0.999479	B;P	0.39535	0.013;0.677	B;P	0.52672	0.01;0.706	T	0.71337	-0.4623	10	0.72032	D	0.01	.	6.2401	0.20785	0.4694:0.0:0.4047:0.1259	.	123;238	E9PS56;Q6VVX0	.;CP2R1_HUMAN	M	238	ENSP00000334592:L238M	ENSP00000334592:L238M	L	-	1	2	CYP2R1	14858546	0.941000	0.31946	0.993000	0.49108	0.991000	0.79684	0.222000	0.17699	-0.028000	0.13850	-0.302000	0.09304	CTG		0.408	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514	
SOX6	55553	broad.mit.edu	37	11	16007817	16007817	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:16007817G>A	ENST00000352083.6	-	15	2193	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	SOX6_ENST00000396356.3_Missense_Mutation_p.R686W|SOX6_ENST00000528429.1_Missense_Mutation_p.R706W|SOX6_ENST00000527619.1_Missense_Mutation_p.R682W|SOX6_ENST00000316399.6_Missense_Mutation_p.R686W|SOX6_ENST00000528252.1_Missense_Mutation_p.R679W			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	706					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R686W(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCCCCAATCCGAAGCTTTTTG	0.478																																					p.R686W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2056T	11						.						214.0	202.0	206.0					11																	16007817		2200	4294	6494	15964393	SO:0001583	missense	55553	exon15			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2116C>T	11.37:g.16007817G>A	ENSP00000339876:p.Arg706Trp	Somatic		Capture	Illumina HiSeq	Phase_I	15964393	NM_033326	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	G	28.7	4.941914	0.92526	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.81965	-0.0691	10	0.87932	D	0	.	19.6107	0.95606	0.0:0.0:1.0:0.0	.	686;706;682	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	W	686;706;686;679;682;706	ENSP00000324948:R686W;ENSP00000339876:R706W;ENSP00000379644:R686W;ENSP00000432134:R679W;ENSP00000434455:R682W;ENSP00000433233:R706W	ENSP00000324948:R686W	R	-	1	2	SOX6	15964393	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.029000	0.88807	2.648000	0.89879	0.655000	0.94253	CGG		0.478	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
NUCB2	4925	broad.mit.edu	37	11	17332396	17332396	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:17332396G>T	ENST00000529010.1	+	7	727	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	NUCB2_ENST00000458064.2_Missense_Mutation_p.D170Y|NUCB2_ENST00000323688.6_Missense_Mutation_p.D170Y	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	170						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.D170Y(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGAACACTATGACAAGACTCG	0.274																																					p.D170Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508T	11						.						66.0	64.0	65.0					11																	17332396		1814	4040	5854	17288972	SO:0001583	missense	4925	exon7			AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.508G>T	11.37:g.17332396G>T	ENSP00000436455:p.Asp170Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	17288972	NM_005013	A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794785	0.90453	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000458064	T;T;T	0.44881	0.93;0.93;0.91	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.84585	2.705	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.972;0.984;0.984	T	0.74163	-0.3754	10	0.87932	D	0	-19.8805	20.1111	0.97911	0.0:0.0:1.0:0.0	.	170;170;170	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	Y	170	ENSP00000320168:D170Y;ENSP00000436455:D170Y;ENSP00000408702:D170Y	ENSP00000320168:D170Y	D	+	1	0	NUCB2	17288972	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.852000	0.99516	2.741000	0.93983	0.655000	0.94253	GAC		0.274	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013	
ABCC8	6833	broad.mit.edu	37	11	17426166	17426166	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:17426166G>T	ENST00000389817.3	-	28	3518	c.3450C>A	c.(3448-3450)gtC>gtA	p.V1150V	ABCC8_ENST00000302539.4_Silent_p.V1151V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1150	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.V1150V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCAGGGCTGAGACACAGAGCA	0.587																																					p.V1150V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3450A	11						.						88.0	60.0	69.0					11																	17426166		2200	4293	6493	17382742	SO:0001819	synonymous_variant	6833	exon28			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3450C>A	11.37:g.17426166G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17382742	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1																																																																																				0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
USH1C	10083	broad.mit.edu	37	11	17537803	17537803	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:17537803G>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Silent_p.F415F|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.F415F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGATGGTTGGGAATTTGCCAT	0.468																																					p.F415F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1245T	11						.						176.0	141.0	153.0					11																	17537803		2200	4293	6493	17494379	SO:0001627	intron_variant	10083	exon15			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+1144C>T	11.37:g.17537803G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17494379	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																				0.468	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
SERGEF	26297	broad.mit.edu	37	11	17809623	17809623	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:17809623G>T	ENST00000265965.5	-	0	1537				SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor						negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTTTATTAAAGATTCTCTATC	0.468																																					.												.	.	0			.	11						.						138.0	140.0	140.0					11																	17809623		2200	4293	6493	17766199	SO:0001624	3_prime_UTR_variant	26297	.			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.*9C>A	11.37:g.17809623G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17766199	.	Q9UGK9	3'UTR	SNP	ENST00000265965.5	37	CCDS7828.1																																																																																				0.468	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	
TPH1	7166	broad.mit.edu	37	11	18062300	18062300	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18062300C>A	ENST00000250018.2	-	1	572	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	TPH1_ENST00000341556.2_Missense_Mutation_p.D4Y	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	4					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.D4Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTTATTGTCTTCAATCATG	0.333																																					p.D4Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10T	11						.						62.0	59.0	60.0					11																	18062300		2200	4291	6491	18018876	SO:0001583	missense	7166	exon1			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.10G>T	11.37:g.18062300C>A	ENSP00000250018:p.Asp4Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	18018876	NM_004179	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699007	0.88830	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99663	-6.29;-6.33;-4.96	5.28	5.28	0.74379	.	0.090789	0.85682	D	0.000000	D	0.99432	0.9799	M	0.85777	2.775	0.80722	D	1	D	0.54397	0.966	P	0.50617	0.646	D	0.99097	1.0842	10	0.72032	D	0.01	-12.3005	18.887	0.92383	0.0:1.0:0.0:0.0	.	4	P17752	TPH1_HUMAN	Y	4;4;14	ENSP00000250018:D4Y;ENSP00000343550:D4Y;ENSP00000436081:D14Y	ENSP00000250018:D4Y	D	-	1	0	TPH1	18018876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.476000	0.83614	0.491000	0.48974	GAC		0.333	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	
SAAL1	113174	broad.mit.edu	37	11	18105111	18105111	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18105111G>T	ENST00000524803.1	-	10	1259	c.1210C>A	c.(1210-1212)Ctt>Att	p.L404I	SAAL1_ENST00000300013.4_Missense_Mutation_p.L403I|SAAL1_ENST00000529318.1_Missense_Mutation_p.L406I			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	404								p.L404I(1)		breast(2)|large_intestine(5)|lung(8)	15						ATATTAGAAAGAAATTCACAT	0.328																																					p.L404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210A	11						.						64.0	67.0	66.0					11																	18105111		2198	4292	6490	18061687	SO:0001583	missense	113174	exon10			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1210C>A	11.37:g.18105111G>T	ENSP00000432487:p.Leu404Ile	Somatic		Capture	Illumina HiSeq	Phase_I	18061687	NM_138421	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104198	0.76983	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318	T;T;T	0.55413	0.52;0.53;0.53	5.99	5.06	0.68205	.	0.114860	0.64402	D	0.000010	T	0.69717	0.3142	M	0.63843	1.955	0.45452	D	0.998427	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.991	T	0.72734	-0.4204	10	0.62326	D	0.03	-14.0302	15.3951	0.74787	0.0:0.1384:0.8616:0.0	.	406;404;404	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	I	404;403;406	ENSP00000432487:L404I;ENSP00000300013:L403I;ENSP00000432216:L406I	ENSP00000300013:L403I	L	-	1	0	SAAL1	18061687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.394000	0.73223	1.478000	0.48253	0.655000	0.94253	CTT		0.328	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	
SAAL1	113174	broad.mit.edu	37	11	18111021	18111021	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18111021T>G	ENST00000524803.1	-	7	675	c.626A>C	c.(625-627)aAg>aCg	p.K209T	SAAL1_ENST00000300013.4_Missense_Mutation_p.K209T|SAAL1_ENST00000529318.1_Missense_Mutation_p.K209T|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	209								p.K209T(1)		breast(2)|large_intestine(5)|lung(8)	15						ATCAAAGAGCTTGTCCACAAC	0.448																																					p.K209T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A626C	11						.						82.0	77.0	78.0					11																	18111021		2200	4293	6493	18067597	SO:0001583	missense	113174	exon7			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.626A>C	11.37:g.18111021T>G	ENSP00000432487:p.Lys209Thr	Somatic		Capture	Illumina HiSeq	Phase_I	18067597	NM_138421	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791915	0.70452	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.51071	1.31;0.72;1.25;0.79;0.72;1.25	5.57	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.221360	0.43416	D	0.000571	T	0.55065	0.1897	L	0.51422	1.61	0.36733	D	0.881814	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.58721	0.844;0.844;0.844	T	0.59289	-0.7482	10	0.33141	T	0.24	-18.0285	11.4325	0.50050	0.0:0.0:0.1507:0.8493	.	209;209;209	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	T	209;209;46;98;209;198	ENSP00000432487:K209T;ENSP00000300013:K209T;ENSP00000432044:K46T;ENSP00000436031:K98T;ENSP00000432216:K209T;ENSP00000431489:K198T	ENSP00000300013:K209T	K	-	2	0	SAAL1	18067597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.984000	0.63838	0.906000	0.36621	0.533000	0.62120	AAG		0.448	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	
SAA4	6291	broad.mit.edu	37	11	18253136	18253136	+	Silent	SNP	C	C	T	rs201938371		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18253136C>T	ENST00000278222.4	-	4	486	c.306G>A	c.(304-306)tcG>tcA	p.S102S	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	102					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.S102S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						CGTTGGACTTCGAGTCCTCCA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18355	0.0		0.001	False		,,,				2504	0.0				p.S102S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	11						.						105.0	105.0	105.0					11																	18253136		2199	4293	6492	18209712	SO:0001819	synonymous_variant	6291	exon4			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.306G>A	11.37:g.18253136C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18209712	NM_006512	Q6FHJ4	Silent	SNP	ENST00000278222.4	37	CCDS7832.1																																																																																				0.517	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512	
SAA1	6288	broad.mit.edu	37	11	18291291	18291291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18291291C>A	ENST00000405158.2	+	4	442	c.258C>A	c.(256-258)ttC>ttA	p.F86L	SAA1_ENST00000532858.1_Missense_Mutation_p.F86L|SAA1_ENST00000356524.4_Missense_Mutation_p.F86L	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	86			F -> L (in dbSNP:rs1059559).		acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.F86L(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TCCAGAGATTCTTTGGCCATG	0.547																																					p.F86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C258A	11						.						112.0	98.0	103.0					11																	18291291		2199	4293	6492	18247867	SO:0001583	missense	6288	exon4			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.258C>A	11.37:g.18291291C>A	ENSP00000384906:p.Phe86Leu	Somatic		Capture	Illumina HiSeq	Phase_I	18247867	NM_000331	P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	C	0.475	-0.882625	0.02530	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.08458	3.09;3.09;3.09	2.61	-0.486	0.12064	.	3.012080	0.00714	N	0.000850	T	0.03608	0.0103	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31779	-0.9931	10	0.02654	T	1	.	4.3677	0.11232	0.0:0.5603:0.2159:0.2238	.	86;86	D3DQX7;P02735	.;SAA_HUMAN	L	86	ENSP00000348918:F86L;ENSP00000436866:F86L;ENSP00000384906:F86L	ENSP00000348918:F86L	F	+	3	2	SAA1	18247867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.924000	0.01565	-0.113000	0.11958	-0.311000	0.09066	TTC		0.547	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161	
HPS5	11234	broad.mit.edu	37	11	18303723	18303723	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18303723G>T	ENST00000349215.3	-	22	3380	c.3103C>A	c.(3103-3105)Ctc>Atc	p.L1035I	HPS5_ENST00000396253.3_Missense_Mutation_p.L921I|HPS5_ENST00000438420.2_Missense_Mutation_p.L921I|HPS5_ENST00000537258.1_Missense_Mutation_p.L142I|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1035					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.L1035I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTCTGTATGAGATGAAGGAGA	0.527									Hermansky-Pudlak syndrome																												p.L1035I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3103A	11						.						76.0	81.0	79.0					11																	18303723		2199	4293	6492	18260299	SO:0001583	missense	11234	exon22	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3103C>A	11.37:g.18303723G>T	ENSP00000265967:p.Leu1035Ile	Somatic		Capture	Illumina HiSeq	Phase_I	18260299	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660943	0.88154	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.72615	-0.67;-0.67;-0.58	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.82393	0.5027	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83868	0.0272	10	0.72032	D	0.01	.	18.5376	0.91015	0.0:0.0:1.0:0.0	.	1035	Q9UPZ3	HPS5_HUMAN	I	921;921;1035;142	ENSP00000379552:L921I;ENSP00000399590:L921I;ENSP00000265967:L1035I	ENSP00000265967:L1035I	L	-	1	0	HPS5	18260299	1.000000	0.71417	0.888000	0.34837	0.989000	0.77384	6.758000	0.74929	2.595000	0.87683	0.650000	0.86243	CTC		0.527	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
SPTY2D1	144108	broad.mit.edu	37	11	18631440	18631440	+	Missense_Mutation	SNP	G	G	A	rs570598640		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18631440G>A	ENST00000336349.5	-	6	2261	c.2026C>T	c.(2026-2028)Cgt>Tgt	p.R676C	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	676								p.R676C(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCCCTTCGACGTTGCATTTCT	0.418																																					p.R676C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2026T	11						.						217.0	208.0	211.0					11																	18631440		2199	4293	6492	18588016	SO:0001583	missense	144108	exon6			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.2026C>T	11.37:g.18631440G>A	ENSP00000337991:p.Arg676Cys	Somatic		Capture	Illumina HiSeq	Phase_I	18588016	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521059	0.44866	.	.	ENSG00000179119	ENST00000336349	T	0.49720	0.77	5.69	4.78	0.61160	.	0.060881	0.64402	D	0.000015	T	0.49474	0.1559	M	0.82517	2.595	0.58432	D	0.999993	B	0.34255	0.445	B	0.28465	0.09	T	0.54456	-0.8291	10	0.48119	T	0.1	-8.9739	12.9675	0.58492	0.0748:0.0:0.9251:0.0	.	676	Q68D10	SPT2_HUMAN	C	676	ENSP00000337991:R676C	ENSP00000337991:R676C	R	-	1	0	SPTY2D1	18588016	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.455000	0.52993	1.418000	0.47098	0.655000	0.94253	CGT		0.418	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
IGSF22	283284	broad.mit.edu	37	11	18737207	18737207	+	Missense_Mutation	SNP	G	G	A	rs371511434		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:18737207G>A	ENST00000513874.1	-	11	1442	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	435	Ig-like 3.							p.R435C(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGGCATGCGCGACTCCTCTCT	0.527																																					p.R435C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1303T	11						.	G	CYS/ARG	0,4394		0,0,2197	131.0	124.0	126.0		1303	-1.2	0.0	11		126	1,8573	1.2+/-3.3	0,1,4286	no	missense	IGSF22	NM_173588.3	180	0,1,6483	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	435/1327	18737207	1,12967	2197	4287	6484	18693783	SO:0001583	missense	283284	exon11			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1303C>T	11.37:g.18737207G>A	ENSP00000421191:p.Arg435Cys	Somatic		Capture	Illumina HiSeq	Phase_I	18693783	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	4.927	0.172291	0.09391	0.0	1.17E-4	ENSG00000179057	ENST00000513874	T	0.68181	-0.31	4.91	-1.16	0.09678	.	0.613475	0.13480	N	0.384778	T	0.50137	0.1598	L	0.41415	1.275	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.42430	-0.9452	10	0.66056	D	0.02	.	4.311	0.10971	0.3328:0.0:0.3822:0.285	.	435	D6RGV7	.	C	435	ENSP00000421191:R435C	ENSP00000322422:R435C	R	-	1	0	IGSF22	18693783	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	0.236000	0.17967	-0.205000	0.10219	0.455000	0.32223	CGC		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
E2F8	79733	broad.mit.edu	37	11	19256298	19256298	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:19256298A>C	ENST00000527884.1	-	5	991	c.759T>G	c.(757-759)ttT>ttG	p.F253L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.F253L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	253					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F253L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCTGCCCGAAATTCCACTC	0.453																																					p.F253L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T759G	11						.						73.0	74.0	74.0					11																	19256298		2199	4293	6492	19212874	SO:0001583	missense	79733	exon5				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.759T>G	11.37:g.19256298A>C	ENSP00000434199:p.Phe253Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19212874	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855337	0.32791	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.19532	2.14;2.14	5.52	3.1	0.35709	.	0.049402	0.85682	N	0.000000	T	0.14399	0.0348	L	0.41824	1.3	0.40843	D	0.983688	B	0.16603	0.018	B	0.17722	0.019	T	0.12477	-1.0546	10	0.23891	T	0.37	-9.2519	5.3482	0.16020	0.6455:0.1407:0.2138:0.0	.	253	A0AVK6	E2F8_HUMAN	L	253	ENSP00000434199:F253L;ENSP00000250024:F253L	ENSP00000250024:F253L	F	-	3	2	E2F8	19212874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.163000	0.31798	0.346000	0.23899	0.533000	0.62120	TTT		0.453	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
NAV2	89797	broad.mit.edu	37	11	20104634	20104634	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:20104634A>G	ENST00000396087.3	+	29	5683	c.5584A>G	c.(5584-5586)Acg>Gcg	p.T1862A	NAV2_ENST00000360655.4_Missense_Mutation_p.T1739A|NAV2_ENST00000540292.1_Missense_Mutation_p.T1793A|NAV2_ENST00000527559.2_Missense_Mutation_p.T1791A|NAV2_ENST00000311043.8_Missense_Mutation_p.T867A|NAV2_ENST00000533917.1_Missense_Mutation_p.T867A|NAV2_ENST00000349880.4_Missense_Mutation_p.T1803A|NAV2_ENST00000396085.1_Missense_Mutation_p.T1806A	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1862					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T1862A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGGAGATGACGGATTCTTC	0.478																																					p.T1739A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5215G	11						.						146.0	128.0	134.0					11																	20104634		2203	4300	6503	20061210	SO:0001583	missense	89797	exon26			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5584A>G	11.37:g.20104634A>G	ENSP00000379396:p.Thr1862Ala	Somatic		Capture	Illumina HiSeq	Phase_I	20061210	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686544	0.68157	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	D	0.94588	0.8256	L	0.35644	1.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.983;0.999;0.997	D;P;D;D	0.85130	0.997;0.876;0.986;0.99	D	0.93924	0.7208	9	.	.	.	.	16.1325	0.81454	1.0:0.0:0.0:0.0	.	1806;867;1803;1739	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	A	1739;1806;1803;1862;1791;1793;867;867	ENSP00000353871:T1739A;ENSP00000379394:T1806A;ENSP00000309577:T1803A;ENSP00000379396:T1862A;ENSP00000435395:T1791A;ENSP00000443489:T1793A;ENSP00000437316:T867A;ENSP00000312169:T867A	.	T	+	1	0	NAV2	20061210	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.453000	0.80700	2.212000	0.71576	0.496000	0.49642	ACG		0.478	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
HTATIP2	10553	broad.mit.edu	37	11	20404678	20404678	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:20404678A>G	ENST00000451739.2	+	5	1097	c.656A>G	c.(655-657)gAc>gGc	p.D219G	HTATIP2_ENST00000443524.2_Missense_Mutation_p.D219G|HTATIP2_ENST00000419348.2_Missense_Mutation_p.D253G|HTATIP2_ENST00000421577.2_Missense_Mutation_p.D219G|HTATIP2_ENST00000531058.1_Missense_Mutation_p.D173G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa									p.D219G(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGACCAAGAGACAAGCAGATG	0.502																																					p.D219G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A656G	11						.						109.0	88.0	95.0					11																	20404678		2203	4300	6503	20361254	SO:0001583	missense	10553	exon5			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.656A>G	11.37:g.20404678A>G	ENSP00000394259:p.Asp219Gly	Somatic		Capture	Illumina HiSeq	Phase_I	20361254	NM_001098522		Missense_Mutation	SNP	ENST00000451739.2	37	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	A	5.999	0.368324	0.11352	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.96	-2.12	0.07165	.	0.682600	0.16202	N	0.224870	T	0.21674	0.0522	L	0.49350	1.555	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14172	-1.0482	10	0.40728	T	0.16	-0.534	5.5399	0.17031	0.4665:0.2482:0.2853:0.0	.	219;253	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	G	219;219;253;219;173	ENSP00000397752:D219G;ENSP00000387876:D219G;ENSP00000392985:D253G;ENSP00000394259:D219G;ENSP00000436729:D173G	ENSP00000392985:D253G	D	+	2	0	HTATIP2	20361254	0.109000	0.22037	0.000000	0.03702	0.001000	0.01503	1.668000	0.37481	-0.639000	0.05502	-0.290000	0.09829	GAC		0.502	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521	
SLC6A5	9152	broad.mit.edu	37	11	20625824	20625824	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:20625824G>A	ENST00000525748.1	+	3	813					NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGCTTTTCCGCCCCCAGGAG	0.622																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						91.0	83.0	86.0					11																	20625824		2203	4300	6503	20582400	SO:0001627	intron_variant	9152	.			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.541-8G>A	11.37:g.20625824G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20582400	.	O95288|Q4VAM7|Q9BX77	Intron	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																				0.622	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
SLC6A5	9152	broad.mit.edu	37	11	20639313	20639313	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:20639313G>T	ENST00000525748.1	+	7	1416	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	381					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.K381N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGTGCTGAAGATTTCTGCAG	0.512																																					p.K381N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1143T	11						.						146.0	134.0	138.0					11																	20639313		2203	4300	6503	20595889	SO:0001583	missense	9152	exon7			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1143G>T	11.37:g.20639313G>T	ENSP00000434364:p.Lys381Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20595889	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949244	0.34377	.	.	ENSG00000165970	ENST00000525748	T	0.73789	-0.78	4.82	4.82	0.62117	.	0.234553	0.44902	D	0.000418	T	0.56963	0.2021	N	0.11892	0.195	0.48975	D	0.999737	B	0.13594	0.008	B	0.16722	0.016	T	0.54549	-0.8277	10	0.37606	T	0.19	.	12.3974	0.55393	0.0831:0.0:0.9169:0.0	.	381	Q9Y345	SC6A5_HUMAN	N	381	ENSP00000434364:K381N	ENSP00000434364:K381N	K	+	3	2	SLC6A5	20595889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.942000	0.56614	2.383000	0.81215	0.655000	0.94253	AAG		0.512	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
NELL1	4745	broad.mit.edu	37	11	20948868	20948868	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:20948868G>T	ENST00000357134.5	+	8	926	c.774G>T	c.(772-774)gaG>gaT	p.E258D	NELL1_ENST00000532434.1_Missense_Mutation_p.E258D|NELL1_ENST00000298925.5_Missense_Mutation_p.E286D|NELL1_ENST00000325319.5_Missense_Mutation_p.E201D	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	258					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.E258D(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTATGCAGAGACAAGACTTA	0.363																																					p.E258D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	11						.						122.0	116.0	118.0					11																	20948868		2203	4300	6503	20905444	SO:0001583	missense	4745	exon8			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.774G>T	11.37:g.20948868G>T	ENSP00000349654:p.Glu258Asp	Somatic		Capture	Illumina HiSeq	Phase_I	20905444	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779339	0.70107	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80909	-1.43;-1.4;-1.32;-1.29	5.56	3.36	0.38483	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.64170	1.965	0.43444	D	0.995626	D;D;D;D	0.64830	0.99;0.994;0.991;0.994	D;D;D;D	0.73380	0.98;0.97;0.939;0.97	T	0.80004	-0.1564	10	0.20046	T	0.44	-23.4549	6.4533	0.21916	0.3685:0.0:0.6315:0.0	.	201;286;258;258	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	D	286;258;201;258	ENSP00000298925:E286D;ENSP00000349654:E258D;ENSP00000317837:E201D;ENSP00000437170:E258D	ENSP00000298925:E286D	E	+	3	2	NELL1	20905444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.360000	0.44151	1.343000	0.45638	0.557000	0.71058	GAG		0.363	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
ANO5	203859	broad.mit.edu	37	11	22225384	22225384	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22225384C>A	ENST00000324559.8	+	2	392	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	25					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F25L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTACTCTTTCCAAATGAGTG	0.274																																					p.F25L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C75A	11						.						32.0	33.0	33.0					11																	22225384		2164	4256	6420	22181960	SO:0001583	missense	203859	exon2			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.75C>A	11.37:g.22225384C>A	ENSP00000315371:p.Phe25Leu	Somatic		Capture	Illumina HiSeq	Phase_I	22181960	NM_001142649		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	2.236	-0.375050	0.05034	.	.	ENSG00000171714	ENST00000324559	T	0.69685	-0.42	4.02	-0.503	0.12000	.	1.897270	0.03053	N	0.154881	T	0.48314	0.1493	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13124	-1.0521	10	0.09338	T	0.73	.	2.9427	0.05835	0.2156:0.4016:0.0:0.3828	.	25	Q75V66	ANO5_HUMAN	L	25	ENSP00000315371:F25L	ENSP00000315371:F25L	F	+	3	2	ANO5	22181960	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.910000	0.04054	-0.079000	0.12707	-0.142000	0.14014	TTC		0.274	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO5	203859	broad.mit.edu	37	11	22272296	22272296	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22272296C>A	ENST00000324559.8	+	11	1340	c.1023C>A	c.(1021-1023)atC>atA	p.I341I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	341					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.I341I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACTGAAATCTGTGACCCTG	0.388																																					p.I340I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1020A	11						.						221.0	177.0	192.0					11																	22272296		2203	4300	6503	22228872	SO:0001819	synonymous_variant	203859	exon11			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1023C>A	11.37:g.22272296C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22228872	NM_001142649		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO5	203859	broad.mit.edu	37	11	22279228	22279228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22279228G>T	ENST00000324559.8	+	14	1652	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	445					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E445D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTACAGGAGATGGAACCTT	0.388																																					p.E444D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1332T	11						.						166.0	156.0	159.0					11																	22279228		2203	4300	6503	22235804	SO:0001583	missense	203859	exon14			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1335G>T	11.37:g.22279228G>T	ENSP00000315371:p.Glu445Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22235804	NM_001142649		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537118	0.45176	.	.	ENSG00000171714	ENST00000324559	T	0.65364	-0.15	5.71	-2.31	0.06765	.	0.143132	0.64402	N	0.000008	T	0.55097	0.1899	M	0.77616	2.38	0.48135	D	0.999598	B	0.10296	0.003	B	0.16722	0.016	T	0.37865	-0.9687	10	0.33141	T	0.24	.	7.8572	0.29489	0.3826:0.0:0.5229:0.0946	.	445	Q75V66	ANO5_HUMAN	D	445	ENSP00000315371:E445D	ENSP00000315371:E445D	E	+	3	2	ANO5	22235804	1.000000	0.71417	0.920000	0.36463	0.682000	0.39822	1.006000	0.29847	-0.428000	0.07339	0.460000	0.39030	GAG		0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO5	203859	broad.mit.edu	37	11	22294500	22294500	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22294500C>A	ENST00000324559.8	+	19	2517	c.2200C>A	c.(2200-2202)Ctt>Att	p.L734I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	734					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L734I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAAGACATTCTTTATGGAAT	0.423																																					p.L733I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2197A	11						.						159.0	152.0	154.0					11																	22294500		2203	4300	6503	22251076	SO:0001583	missense	203859	exon19			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2200C>A	11.37:g.22294500C>A	ENSP00000315371:p.Leu734Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22251076	NM_001142649		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	c	34	5.343647	0.95783	.	.	ENSG00000171714	ENST00000324559	T	0.69685	-0.42	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.82879	0.5133	M	0.82193	2.58	0.80722	D	1	P	0.39696	0.683	P	0.56042	0.79	T	0.83259	-0.0049	10	0.66056	D	0.02	.	19.9071	0.97012	0.0:1.0:0.0:0.0	.	734	Q75V66	ANO5_HUMAN	I	734	ENSP00000315371:L734I	ENSP00000315371:L734I	L	+	1	0	ANO5	22251076	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	4.907000	0.63300	2.776000	0.95493	0.651000	0.88453	CTT		0.423	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO5	203859	broad.mit.edu	37	11	22301160	22301160	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22301160G>T	ENST00000324559.8	+	22	2908	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	864					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R864I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGTGGAGAGAATCAAGAGA	0.333																																					p.R863I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2588T	11						.						104.0	105.0	105.0					11																	22301160		2203	4299	6502	22257736	SO:0001583	missense	203859	exon22			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2591G>T	11.37:g.22301160G>T	ENSP00000315371:p.Arg864Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22257736	NM_001142649		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775848	0.70107	.	.	ENSG00000171714	ENST00000324559	T	0.63744	-0.06	5.84	3.6	0.41247	.	0.257343	0.45126	D	0.000381	T	0.75287	0.3829	M	0.81614	2.55	0.34792	D	0.735889	D	0.54397	0.966	D	0.67382	0.951	T	0.80174	-0.1492	10	0.72032	D	0.01	.	7.0681	0.25164	0.4551:0.0:0.5449:0.0	.	864	Q75V66	ANO5_HUMAN	I	864	ENSP00000315371:R864I	ENSP00000315371:R864I	R	+	2	0	ANO5	22257736	1.000000	0.71417	0.874000	0.34290	0.970000	0.65996	2.487000	0.45268	0.559000	0.29153	0.655000	0.94253	AGA		0.333	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
GAS2	2620	broad.mit.edu	37	11	22777484	22777484	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:22777484G>T	ENST00000454584.2	+	7	1013	c.708G>T	c.(706-708)aaG>aaT	p.K236N	GAS2_ENST00000278187.3_Missense_Mutation_p.K236N|GAS2_ENST00000433790.1_Missense_Mutation_p.K236N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	236	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.K236N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGGGAGAAAAGATCCTCTTCA	0.398																																					p.K236N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G708T	11						.						74.0	77.0	76.0					11																	22777484		2203	4300	6503	22734060	SO:0001583	missense	2620	exon6			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.708G>T	11.37:g.22777484G>T	ENSP00000401145:p.Lys236Asn	Somatic		Capture	Illumina HiSeq	Phase_I	22734060	NM_005256	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007285	0.75046	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.49720	0.77;0.77;0.77	5.61	4.7	0.59300	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.72353	2.195	0.54753	D	0.999982	D	0.56035	0.974	D	0.68192	0.956	T	0.70350	-0.4896	10	0.72032	D	0.01	-14.5678	14.0511	0.64736	0.0719:0.0:0.9281:0.0	.	236	O43903	GAS2_HUMAN	N	236	ENSP00000401145:K236N;ENSP00000278187:K236N;ENSP00000396708:K236N	ENSP00000278187:K236N	K	+	3	2	GAS2	22734060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.352000	0.73027	1.368000	0.46115	0.655000	0.94253	AAG		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	
LUZP2	338645	broad.mit.edu	37	11	24750754	24750754	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:24750754C>A	ENST00000336930.6	+	2	168	c.102C>A	c.(100-102)gtC>gtA	p.V34V	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	34						extracellular region (GO:0005576)		p.V34V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAAGAAGTCTTTAAGGAGC	0.428																																					p.V34V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102A	11						.						70.0	72.0	71.0					11																	24750754		2203	4298	6501	24707330	SO:0001819	synonymous_variant	338645	exon2			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.102C>A	11.37:g.24750754C>A		Somatic		Capture	Illumina HiSeq	Phase_I	24707330	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	CCDS31446.1																																																																																				0.428	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
LUZP2	338645	broad.mit.edu	37	11	24753742	24753742	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:24753742T>G	ENST00000336930.6	+	3	317				LUZP2_ENST00000533227.1_Intron|LUZP2_ENST00000531187.1_Intron			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region (GO:0005576)		p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGGTAAGACTTTTCTTTTTT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						40.0	41.0	41.0					11																	24753742		2202	4296	6498	24710318	SO:0001627	intron_variant	338645	.			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.251+8T>G	11.37:g.24753742T>G		Somatic		Capture	Illumina HiSeq	Phase_I	24710318	.	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Intron	SNP	ENST00000336930.6	37	CCDS31446.1																																																																																				0.303	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
ANO3	63982	broad.mit.edu	37	11	26663454	26663454	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:26663454A>G	ENST00000256737.3	+	22	3005	c.2153A>G	c.(2152-2154)aAc>aGc	p.N718S	ANO3_ENST00000525139.1_Missense_Mutation_p.N702S|ANO3_ENST00000531568.1_Missense_Mutation_p.N572S|ANO3_ENST00000537978.1_Missense_Mutation_p.N702S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	718					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.N718S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGATCCAGAACTGGTGGTCA	0.423																																					p.N718S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2153G	11						.						129.0	121.0	124.0					11																	26663454		2203	4299	6502	26620030	SO:0001583	missense	63982	exon22			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2153A>G	11.37:g.26663454A>G	ENSP00000256737:p.Asn718Ser	Somatic		Capture	Illumina HiSeq	Phase_I	26620030	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781680	0.90282	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.60904	1.88	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.972;0.994	T	0.77230	-0.2664	10	0.54805	T	0.06	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	620;718	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	S	702;702;718;620;572	ENSP00000440737:N702S;ENSP00000432576:N702S;ENSP00000256737:N718S;ENSP00000432394:N572S	ENSP00000256737:N718S	N	+	2	0	ANO3	26620030	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.228000	0.95250	2.263000	0.75096	0.533000	0.62120	AAC		0.423	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
SLC5A12	159963	broad.mit.edu	37	11	26743250	26743250	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:26743250C>T	ENST00000396005.3	-	1	321	c.12G>A	c.(10-12)aaG>aaA	p.K4K	SLC5A12_ENST00000280467.6_Silent_p.K4K	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	4					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.K4K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGCAAAGTTCTTCACCTCCA	0.403																																					p.K4K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G12A	11						.						85.0	88.0	87.0					11																	26743250		2203	4299	6502	26699826	SO:0001819	synonymous_variant	159963	exon1			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.12G>A	11.37:g.26743250C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26699826	NM_178498	Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																				0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
BBOX1	8424	broad.mit.edu	37	11	27114906	27114906	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:27114906T>G	ENST00000529202.1	+	4	865	c.526T>G	c.(526-528)Ttt>Gtt	p.F176V	BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.F176V|BBOX1_ENST00000525090.1_Missense_Mutation_p.F176V|BBOX1_ENST00000263182.3_Missense_Mutation_p.F176V			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	176					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.F176V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTATCTCACATTTTATGGGTG	0.428																																					p.F176V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T526G	11						.						80.0	84.0	82.0					11																	27114906		2202	4299	6501	27071482	SO:0001583	missense	8424	exon5			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.526T>G	11.37:g.27114906T>G	ENSP00000435781:p.Phe176Val	Somatic		Capture	Illumina HiSeq	Phase_I	27071482	NM_003986	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880959	0.72294	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.68952	2.095	0.53688	D	0.999979	P	0.42161	0.772	B	0.41088	0.347	T	0.78795	-0.2064	10	0.19147	T	0.46	.	13.6181	0.62121	0.0:0.0:0.0:1.0	.	176	O75936	BODG_HUMAN	V	176	ENSP00000435781:F176V;ENSP00000263182:F176V;ENSP00000434918:F176V;ENSP00000433772:F176V	ENSP00000263182:F176V	F	+	1	0	BBOX1	27071482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.463000	0.66712	2.087000	0.62958	0.528000	0.53228	TTT		0.428	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986	
KIF18A	81930	broad.mit.edu	37	11	28106236	28106236	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:28106236G>A	ENST00000263181.6	-	7	1307	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	339	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.Y339Y(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATGTGTCATCGTAGAATACAG	0.383																																					p.Y339Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1017T	11						.						131.0	129.0	129.0					11																	28106236		2202	4299	6501	28062812	SO:0001819	synonymous_variant	81930	exon7			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1017C>T	11.37:g.28106236G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28062812	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	CCDS7867.1																																																																																				0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KIF18A	81930	broad.mit.edu	37	11	28119446	28119446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R17C(3)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGACGTACACGAACTACTACT	0.363																																					p.R17C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C49T	11						.						166.0	158.0	161.0					11																	28119446		2202	4299	6501	28076022	SO:0001583	missense	81930	exon2			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys	Somatic		Capture	Illumina HiSeq	Phase_I	28076022	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KCNA4	3739	broad.mit.edu	37	11	30034091	30034091	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:30034091T>A	ENST00000328224.6	-	2	1368	c.135A>T	c.(133-135)gcA>gcT	p.A45A	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.A45A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTGTGGCCGCTGCAACAGCAG	0.662																																					p.A45A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A135T	11						.						39.0	41.0	40.0					11																	30034091		1804	3992	5796	29990667	SO:0001819	synonymous_variant	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.135A>T	11.37:g.30034091T>A		Somatic		Capture	Illumina HiSeq	Phase_I	29990667	NM_002233		Silent	SNP	ENST00000328224.6	37	CCDS41629.1																																																																																				0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
MPPED2	744	broad.mit.edu	37	11	30433106	30433106	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:30433106G>T	ENST00000358117.5	-	6	916	c.794C>A	c.(793-795)aCa>aAa	p.T265K	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	265					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T265K(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GATGTACGTTGTGTAACCGTC	0.458																																					p.T265K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794A	11						.						125.0	99.0	108.0					11																	30433106		2202	4299	6501	30389682	SO:0001583	missense	744	exon6			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.794C>A	11.37:g.30433106G>T	ENSP00000350833:p.Thr265Lys	Somatic		Capture	Illumina HiSeq	Phase_I	30389682	NM_001584	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459058	0.84317	.	.	ENSG00000066382	ENST00000358117	T	0.42131	0.98	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72194	-0.4364	10	0.41790	T	0.15	-9.7821	20.2825	0.98528	0.0:0.0:1.0:0.0	.	265	Q15777	MPPD2_HUMAN	K	265	ENSP00000350833:T265K	ENSP00000350833:T265K	T	-	2	0	MPPED2	30389682	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	ACA		0.458	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584	
DCDC1	341019	broad.mit.edu	37	11	30915787	30915787	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:30915787G>T	ENST00000597505.1	-	33	4893				DCDC1_ENST00000406071.2_Intron			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)			p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAATCCCAAAGAACATACCTC	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						73.0	74.0	74.0					11																	30915787		1847	4090	5937	30872363	SO:0001627	intron_variant	0	.			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4893+7C>A	11.37:g.30915787G>T		Somatic		Capture	Illumina HiSeq	Phase_I	30872363	.	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000597505.1	37																																																																																					0.378	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
DCDC1	341019	broad.mit.edu	37	11	30942434	30942434	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:30942434G>T	ENST00000406071.2	-	0	818				DCDC1_ENST00000597505.1_Missense_Mutation_p.A1061D|DCDC1_ENST00000339794.5_Missense_Mutation_p.A140D			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)			p.A140D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTATGCACAGCAAGCTTGCT	0.388																																					p.A259D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776A	11						.						125.0	102.0	110.0					11																	30942434		2202	4299	6501	30899010			0	exon6			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-614C>A	11.37:g.30942434G>T		Somatic		Capture	Illumina HiSeq	Phase_I	30899010	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000406071.2	37		.	.	.	.	.	.	.	.	.	.	G	13.35	2.211710	0.39102	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	2.23	0.28157	.	0.225695	0.31188	N	0.008100	T	0.36608	0.0973	M	0.63428	1.95	0.24406	N	0.994684	B	0.29085	0.232	B	0.32533	0.147	T	0.32666	-0.9898	9	0.52906	T	0.07	-0.6449	4.8232	0.13403	0.2218:0.0:0.6057:0.1725	.	140	Q6ZRR9	DCDC5_HUMAN	D	140	.	ENSP00000341700:A140D	A	-	2	0	DCDC5	30899010	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	0.908000	0.28545	0.690000	0.31570	-0.137000	0.14449	GCT		0.388	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
DCDC1	341019	broad.mit.edu	37	11	31113039	31113039	+	Missense_Mutation	SNP	C	C	T	rs566883243		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:31113039C>T	ENST00000597505.1	-	15	2137	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.R332Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGTTATCGCTCGGCTCAGGAT	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18464	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	11						.						53.0	47.0	49.0					11																	31113039		1877	4107	5984	31069615	SO:0001583	missense	341019	.			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2138G>A	11.37:g.31113039C>T	ENSP00000472625:p.Arg713Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31069615	.	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37																																																																																					0.413	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
RCN1	5954	broad.mit.edu	37	11	32118709	32118709	+	Missense_Mutation	SNP	G	G	A	rs144307253		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:32118709G>A	ENST00000054950.3	+	2	567	c.274G>A	c.(274-276)Gac>Aac	p.D92N	RCN1_ENST00000532942.1_Missense_Mutation_p.D41N|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	92	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.D92N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TGATCGAATCGACAATGATGG	0.418																																					p.D92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	11						.	G	ASN/ASP	0,4404		0,0,2202	47.0	43.0	44.0		274	5.0	1.0	11	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	no	missense	RCN1	NM_002901.2	23	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/332	32118709	1,13001	2202	4299	6501	32075285	SO:0001583	missense	5954	exon2			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.274G>A	11.37:g.32118709G>A	ENSP00000054950:p.Asp92Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32075285	NM_002901	B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	g	19.69	3.875143	0.72180	0.0	1.16E-4	ENSG00000049449	ENST00000532942;ENST00000054950;ENST00000400416	D;D	0.95821	-3.82;-3.82	5.03	5.03	0.67393	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	H	0.94542	3.55	0.80722	D	1	D;P	0.55172	0.97;0.494	P;B	0.54100	0.742;0.196	D	0.99120	1.0849	10	0.72032	D	0.01	-27.3701	18.3677	0.90397	0.0:0.0:1.0:0.0	.	92;41	Q15293;B7Z1M1	RCN1_HUMAN;.	N	41;92;92	ENSP00000436422:D41N;ENSP00000054950:D92N	ENSP00000054950:D92N	D	+	1	0	RCN1	32075285	1.000000	0.71417	0.976000	0.42696	0.547000	0.35210	9.823000	0.99369	2.328000	0.79073	0.650000	0.86243	GAC		0.418	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
CCDC73	493860	broad.mit.edu	37	11	32657298	32657298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:32657298C>A	ENST00000335185.5	-	14	1172	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	377								p.E377*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTATAATGTTCTTGTAACTTA	0.259																																					p.E377X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1129T	11						.						57.0	52.0	54.0					11																	32657298		1772	4024	5796	32613874	SO:0001587	stop_gained	493860	exon14			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1129G>T	11.37:g.32657298C>A	ENSP00000335325:p.Glu377*	Somatic		Capture	Illumina HiSeq	Phase_I	32613874	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Nonsense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.349558|5.349558	0.95830|0.95830	.|.	.|.	ENSG00000186714|ENSG00000186714	ENST00000335185|ENST00000528333	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.092777|.	0.46758|.	D|.	0.000274|.	.|T	.|0.72431	.|0.3459	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70626	.|-0.4820	.|4	0.38643|.	T|.	0.18|.	.|.	16.5152|16.5152	0.84297|0.84297	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	377|27	.|.	ENSP00000335325:E377X|.	E|K	-|-	1|3	0|2	CCDC73|CCDC73	32613874|32613874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	4.579000|4.579000	0.60936|0.60936	2.643000|2.643000	0.89663|0.89663	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.259	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
DEPDC7	91614	broad.mit.edu	37	11	33053027	33053027	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:33053027G>T	ENST00000241051.3	+	5	978	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D287Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	296					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.D287Y(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AGACCGAACAGACTTAGTGAA	0.423																																					p.D287Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G859T	11						.						118.0	112.0	114.0					11																	33053027		1866	4104	5970	33009603	SO:0001583	missense	91614	exon5				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.886G>T	11.37:g.33053027G>T	ENSP00000241051:p.Asp296Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	33009603	NM_139160	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536769	0.65085	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.65364	-0.15;-0.15	5.38	5.38	0.77491	.	0.275088	0.42548	D	0.000695	T	0.73923	0.3649	M	0.67953	2.075	0.41910	D	0.990467	D;D	0.76494	0.996;0.999	D;D	0.64042	0.916;0.921	T	0.76332	-0.2998	10	0.62326	D	0.03	-1.3506	11.7452	0.51815	0.081:0.0:0.919:0.0	.	287;296	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	296;287	ENSP00000241051:D296Y;ENSP00000308971:D287Y	ENSP00000241051:D296Y	D	+	1	0	DEPDC7	33009603	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	4.209000	0.58493	2.528000	0.85240	0.650000	0.86243	GAC		0.423	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160	
CSTF3	1479	broad.mit.edu	37	11	33123754	33123754	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:33123754A>G	ENST00000323959.4	-	10	934	c.795T>C	c.(793-795)cgT>cgC	p.R265R	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	265					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R265R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GATCCTCTGTACGAAGAGGGT	0.428																																					p.R265R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T795C	11						.						174.0	159.0	164.0					11																	33123754		2202	4298	6500	33080330	SO:0001819	synonymous_variant	1479	exon10			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.795T>C	11.37:g.33123754A>G		Somatic		Capture	Illumina HiSeq	Phase_I	33080330	NM_001326	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Silent	SNP	ENST00000323959.4	37	CCDS7883.1																																																																																				0.428	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	
HIPK3	10114	broad.mit.edu	37	11	33350048	33350048	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:33350048A>C	ENST00000303296.4	+	3	1402				HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3						apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTAATTTTAAATTTCAGAGC	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						68.0	73.0	72.0					11																	33350048		2202	4298	6500	33306624	SO:0001627	intron_variant	10114	.			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1098-8A>C	11.37:g.33350048A>C		Somatic		Capture	Illumina HiSeq	Phase_I	33306624	.	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Intron	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.358	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
HIPK3	10114	broad.mit.edu	37	11	33369440	33369440	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:33369440G>A	ENST00000303296.4	+	11	2492	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P	HIPK3_ENST00000456517.1_Silent_p.P729P|HIPK3_ENST00000525975.1_Silent_p.P729P|HIPK3_ENST00000379016.3_Silent_p.P729P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	729			P -> L (in dbSNP:rs55807239). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P729P(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGTGATGCCGCAGCCTCTTC	0.423																																					p.P729P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2187A	11						.						73.0	67.0	69.0					11																	33369440		2202	4298	6500	33326016	SO:0001819	synonymous_variant	10114	exon11			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2187G>A	11.37:g.33369440G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33326016	NM_005734	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.423	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
HIPK3	10114	broad.mit.edu	37	11	33373822	33373822	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:33373822T>C	ENST00000303296.4	+	16	3476				AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3						apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTATGTTCATTTGTGGATATG	0.413																																					.												.	.	0			.	11						.						139.0	136.0	137.0					11																	33373822		2202	4298	6500	33330398	SO:0001627	intron_variant	10114	.			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3171+11T>C	11.37:g.33373822T>C		Somatic		Capture	Illumina HiSeq	Phase_I	33330398	.	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Intron	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.413	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
PDHX	8050	broad.mit.edu	37	11	34981990	34981990	+	Missense_Mutation	SNP	G	G	A	rs61752925	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:34981990G>A	ENST00000227868.4	+	5	650	c.566G>A	c.(565-567)cGc>cAc	p.R189H	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.R174H			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	189	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.R189H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCAGCTGCCCGCAATATTCTG	0.388													G|||	37	0.00738818	0.0272	0.0014	5008	,	,		15228	0.0		0.0	False		,,,				2504	0.0				p.R189H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	11						.	G	HIS/ARG,,HIS/ARG	73,4331	64.1+/-101.4	0,73,2129	75.0	79.0	77.0		521,,566	6.0	0.9	11	dbSNP_129	77	0,8596		0,0,4298	yes	missense,intron,missense	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	29,,29	0,73,6427	AA,AG,GG		0.0,1.6576,0.5615	probably-damaging,,probably-damaging	174/487,,189/502	34981990	73,12927	2202	4298	6500	34938566	SO:0001583	missense	8050	exon5			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.566G>A	11.37:g.34981990G>A	ENSP00000227868:p.Arg189His	Somatic		Capture	Illumina HiSeq	Phase_I	34938566	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	35	5.587521	0.96590	0.016576	0.0	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.30981	2.45;2.1;1.51;1.58	6.03	6.03	0.97812	E3 binding (3);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70716	0.911;0.97	T	0.80153	-0.1501	10	0.87932	D	0	-7.2336	20.177	0.98182	0.0:0.0:1.0:0.0	rs61752925	174;189	E9PB14;O00330	.;ODPX_HUMAN	H	129;174;189;162	ENSP00000431281:R129H;ENSP00000389404:R174H;ENSP00000227868:R189H;ENSP00000432277:R162H	ENSP00000227868:R189H	R	+	2	0	PDHX	34938566	1.000000	0.71417	0.936000	0.37596	0.977000	0.68977	8.678000	0.91211	2.854000	0.98071	0.655000	0.94253	CGC		0.388	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477	
PDHX	8050	broad.mit.edu	37	11	35016492	35016492	+	Missense_Mutation	SNP	G	G	A	rs371811647		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:35016492G>A	ENST00000227868.4	+	11	1363	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	PDHX_ENST00000430469.2_Missense_Mutation_p.E200K|PDHX_ENST00000448838.3_Missense_Mutation_p.E412K|PDHX_ENST00000477173.3_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	427					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.E427K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGGCATCGACGAATTTACTGC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17926	0.0		0.0	False		,,,				2504	0.0				p.E200K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	11						.	G	LYS/GLU,LYS/GLU,LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	119.0	119.0	119.0		1234,598,1279	6.0	1.0	11		119	0,8596		0,0,4298	no	missense,missense,missense	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	56,56,56	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	412/487,200/275,427/502	35016492	1,12999	2202	4298	6500	34973068	SO:0001583	missense	8050	exon6			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1279G>A	11.37:g.35016492G>A	ENSP00000227868:p.Glu427Lys	Somatic		Capture	Illumina HiSeq	Phase_I	34973068	NM_001166158	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514306	0.64522	2.27E-4	0.0	ENSG00000110435	ENST00000448838;ENST00000227868;ENST00000430469	T;T;T	0.42513	0.97;0.97;0.97	6.04	6.04	0.98038	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.139301	0.64402	D	0.000003	T	0.61602	0.2360	M	0.65975	2.015	0.58432	D	0.999999	D;P;P	0.71674	0.998;0.951;0.766	P;P;B	0.60609	0.877;0.608;0.206	T	0.55579	-0.8119	10	0.38643	T	0.18	-32.1738	19.583	0.95478	0.0:0.0:1.0:0.0	.	200;412;427	E9PBP7;E9PB14;O00330	.;.;ODPX_HUMAN	K	412;427;200	ENSP00000389404:E412K;ENSP00000227868:E427K;ENSP00000415695:E200K	ENSP00000227868:E427K	E	+	1	0	PDHX	34973068	1.000000	0.71417	0.964000	0.40570	0.622000	0.37654	6.457000	0.73505	2.873000	0.98535	0.563000	0.77884	GAA		0.488	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477	
PAMR1	25891	broad.mit.edu	37	11	35463248	35463248	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:35463248G>T	ENST00000378880.2	-	7	1266				PAMR1_ENST00000278360.3_Intron|PAMR1_ENST00000532848.1_Intron|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGGACTAAAAGAAAGTAAAAG	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						31.0	33.0	32.0					11																	35463248		2200	4298	6498	35419824	SO:0001627	intron_variant	25891	.				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.821-7C>A	11.37:g.35463248G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35419824	.	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Intron	SNP	ENST00000378880.2	37	CCDS31460.1																																																																																				0.393	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
TRAF6	7189	broad.mit.edu	37	11	36511954	36511954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:36511954G>A	ENST00000526995.1	-	7	1249	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Nonsense_Mutation_p.R335*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	335	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R335*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TCAAGGGTTCGAATGGTTCGT	0.418																																					p.R335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1003T	11						.						156.0	143.0	147.0					11																	36511954		2202	4298	6500	36468530	SO:0001587	stop_gained	7189	exon8				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1003C>T	11.37:g.36511954G>A	ENSP00000433623:p.Arg335*	Somatic		Capture	Illumina HiSeq	Phase_I	36468530	NM_145803	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Nonsense_Mutation	SNP	ENST00000526995.1	37	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	37	6.209656	0.97380	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.35	4.43	0.53597	.	0.368557	0.31709	N	0.007193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-13.7555	14.075	0.64885	0.0:0.0:0.7257:0.2743	.	.	.	.	X	335	.	ENSP00000337853:R335X	R	-	1	2	TRAF6	36468530	1.000000	0.71417	0.980000	0.43619	0.914000	0.54420	4.164000	0.58190	1.358000	0.45922	0.555000	0.69702	CGA		0.418	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	
TRAF6	7189	broad.mit.edu	37	11	36520088	36520088	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:36520088T>C	ENST00000526995.1	-	3	645	c.399A>G	c.(397-399)aaA>aaG	p.K133K	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Silent_p.K133K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	133	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K133K(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CATTTGGACATTTCACCATCA	0.368																																					p.K133K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A399G	11						.						127.0	121.0	123.0					11																	36520088		2202	4298	6500	36476664	SO:0001819	synonymous_variant	7189	exon4				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.399A>G	11.37:g.36520088T>C		Somatic		Capture	Illumina HiSeq	Phase_I	36476664	NM_145803	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	CCDS7901.1																																																																																				0.368	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	
RAG1	5896	broad.mit.edu	37	11	36597631	36597631	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:36597631A>C	ENST00000299440.5	+	2	2889	c.2777A>C	c.(2776-2778)aAg>aCg	p.K926T		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	926					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K926T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTTTCTACGAAGTTCAAGTAT	0.453									Familial Hemophagocytic Lymphohistiocytosis																												p.K926T	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2777C	11						.						78.0	76.0	77.0					11																	36597631		2202	4298	6500	36554207	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2777A>C	11.37:g.36597631A>C	ENSP00000299440:p.Lys926Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36554207	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.328688	0.41197	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86497	-2.13;-2.13	5.74	5.74	0.90152	.	0.159652	0.53938	D	0.000045	D	0.88779	0.6529	N	0.20483	0.58	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.90764	0.4667	10	0.87932	D	0	.	16.1004	0.81167	1.0:0.0:0.0:0.0	.	926	P15918	RAG1_HUMAN	T	926	ENSP00000434610:K926T;ENSP00000299440:K926T	ENSP00000299440:K926T	K	+	2	0	RAG1	36554207	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	4.395000	0.59678	2.201000	0.70794	0.524000	0.50904	AAG		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
LRRC4C	57689	broad.mit.edu	37	11	40136970	40136970	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:40136970A>G	ENST00000278198.2	-	2	2836	c.873T>C	c.(871-873)caT>caC	p.H291H	LRRC4C_ENST00000528697.1_Silent_p.H291H|LRRC4C_ENST00000530763.1_Silent_p.H291H|LRRC4C_ENST00000527150.1_Silent_p.H291H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	291					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.H291H(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCTAGATGATGCAAGGGAG	0.463																																					p.H291H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T873C	11						.						206.0	164.0	179.0					11																	40136970		2203	4300	6503	40093546	SO:0001819	synonymous_variant	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.873T>C	11.37:g.40136970A>G		Somatic		Capture	Illumina HiSeq	Phase_I	40093546	NM_020929	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LRRC4C	57689	broad.mit.edu	37	11	40137325	40137325	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:40137325G>T	ENST00000278198.2	-	2	2481	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.S173Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S173Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S173Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	173					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.S173Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCGGCGCAAAGAAGGAATTCT	0.428																																					p.S173Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C518A	11						.						92.0	92.0	92.0					11																	40137325		2203	4300	6503	40093901	SO:0001583	missense	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.518C>A	11.37:g.40137325G>T	ENSP00000278198:p.Ser173Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40093901	NM_020929	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844285	0.51164	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	5.82	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00373	-1.1781	10	0.66056	D	0.02	.	14.2847	0.66238	0.0714:0.0:0.9286:0.0	.	173	Q9HCJ2	LRC4C_HUMAN	Y	173	ENSP00000278198:S173Y;ENSP00000436976:S173Y;ENSP00000437132:S173Y;ENSP00000434761:S173Y	ENSP00000278198:S173Y	S	-	2	0	LRRC4C	40093901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	1.470000	0.48102	0.650000	0.86243	TCT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LRRC4C	57689	broad.mit.edu	37	11	40137690	40137690	+	Nonsense_Mutation	SNP	G	G	T	rs556873287		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:40137690G>T	ENST00000278198.2	-	2	2116	c.153C>A	c.(151-153)tgC>tgA	p.C51*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.C51*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.C51*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.C51*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	51	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.C51*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGCTGCAGGAGCACACAGAAG	0.562																																					p.C51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C153A	11						.						72.0	62.0	65.0					11																	40137690		2203	4300	6503	40094266	SO:0001587	stop_gained	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.153C>A	11.37:g.40137690G>T	ENSP00000278198:p.Cys51*	Somatic		Capture	Illumina HiSeq	Phase_I	40094266	NM_020929	A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	39	7.485410	0.98312	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	5.76	1.28	0.21552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8765	0.41207	0.3841:0.0:0.6159:0.0	.	.	.	.	X	51	.	ENSP00000278198:C51X	C	-	3	2	LRRC4C	40094266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.061000	0.30542	0.365000	0.24400	-0.142000	0.14014	TGC		0.562	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
ACCSL	390110	broad.mit.edu	37	11	44079991	44079991	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:44079991C>T	ENST00000378832.1	+	12	1508	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	484					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.V484V(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCCTCTATGTCTGGATCAACT	0.542																																					p.V484V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1452T	11						.						134.0	135.0	135.0					11																	44079991		1985	4155	6140	44036567	SO:0001819	synonymous_variant	390110	exon12				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1452C>T	11.37:g.44079991C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44036567	NM_001031854		Silent	SNP	ENST00000378832.1	37	CCDS41636.1																																																																																				0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
ACCSL	390110	broad.mit.edu	37	11	44080228	44080228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:44080228G>T	ENST00000378832.1	+	13	1659	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	535					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.E535*(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTTGCAGATGAGCTCCCCCG	0.502																																					p.E535X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1603T	11						.						54.0	55.0	55.0					11																	44080228		1866	4101	5967	44036804	SO:0001587	stop_gained	390110	exon13				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1603G>T	11.37:g.44080228G>T	ENSP00000368109:p.Glu535*	Somatic		Capture	Illumina HiSeq	Phase_I	44036804	NM_001031854		Nonsense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240657	0.79912	.	.	ENSG00000205126	ENST00000378832	.	.	.	4.98	3.86	0.44501	.	0.596788	0.18602	N	0.136415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1112	8.435	0.32782	0.9047:0.0:0.0953:0.0	.	.	.	.	X	535	.	ENSP00000368109:E535X	E	+	1	0	ACCSL	44036804	0.169000	0.23002	0.002000	0.10522	0.006000	0.05464	2.509000	0.45459	1.029000	0.39812	-0.302000	0.09304	GAG		0.502	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
ACCS	84680	broad.mit.edu	37	11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A	rs373138553		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582																																					p.A197T	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	11						.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	190.0	173.0	179.0		589,589	2.7	1.0	11		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACCS	NM_001127219.1,NM_032592.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	197/502,197/502	44098861	1,13005	2203	4300	6503	44055437	SO:0001583	missense	84680	exon7			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.589G>A	11.37:g.44098861G>A	ENSP00000263776:p.Ala197Thr	Somatic		Capture	Illumina HiSeq	Phase_I	44055437	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001107	0.54254	0.0	1.16E-4	ENSG00000110455	ENST00000263776	D	0.90788	-2.73	4.58	2.66	0.31614	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199097	0.42964	D	0.000636	D	0.85383	0.5684	L	0.39245	1.2	0.80722	D	1	P	0.39696	0.683	B	0.40375	0.327	T	0.82028	-0.0660	10	0.72032	D	0.01	-7.3086	7.6123	0.28137	0.0859:0.0:0.7519:0.1622	.	197	Q96QU6	1A1L1_HUMAN	T	197	ENSP00000263776:A197T	ENSP00000263776:A197T	A	+	1	0	ACCS	44055437	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	3.692000	0.54727	0.458000	0.26988	0.557000	0.71058	GCT		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
SYT13	57586	broad.mit.edu	37	11	45268060	45268060	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:45268060G>A	ENST00000020926.3	-	5	961	c.850C>T	c.(850-852)Cca>Tca	p.P284S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	284					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.P284S(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCTGCAGATGGCTCCTGAAAC	0.542																																					p.P284S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C850T	11						.						44.0	43.0	43.0					11																	45268060		2203	4299	6502	45224636	SO:0001583	missense	57586	exon5			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.850C>T	11.37:g.45268060G>A	ENSP00000020926:p.Pro284Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45224636	NM_020826	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148868	0.21288	.	.	ENSG00000019505	ENST00000020926	T	0.06218	3.33	5.24	2.23	0.28157	.	0.471231	0.21191	N	0.078657	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	10	0.14656	T	0.56	.	2.7237	0.05208	0.1631:0.1435:0.5451:0.1483	.	284	Q7L8C5	SYT13_HUMAN	S	284	ENSP00000020926:P284S	ENSP00000020926:P284S	P	-	1	0	SYT13	45224636	0.804000	0.28969	0.850000	0.33497	0.836000	0.47400	0.994000	0.29693	0.167000	0.19631	0.561000	0.74099	CCA		0.542	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
GYLTL1B	120071	broad.mit.edu	37	11	45949082	45949082	+	Silent	SNP	G	G	A	rs374924535		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:45949082G>A	ENST00000531526.1	+	11	1653	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	GYLTL1B_ENST00000401752.1_Silent_p.T514T|GYLTL1B_ENST00000389968.3_Silent_p.T241T|GYLTL1B_ENST00000325468.5_Silent_p.T514T|GYLTL1B_ENST00000529052.1_Silent_p.T483T|GYLTL1B_ENST00000536139.1_Silent_p.T483T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	514					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.T514T(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		AGGCCCTCACGCCTTACGTCT	0.597																																					p.T514T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1542A	11						.	G		1,4405		0,1,2202	161.0	159.0	160.0		1542	-7.7	0.6	11		160	0,8598		0,0,4299	no	coding-synonymous	GYLTL1B	NM_152312.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		514/722	45949082	1,13003	2203	4299	6502	45905658	SO:0001819	synonymous_variant	120071	exon11				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1542G>A	11.37:g.45949082G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45905658	NM_152312	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792233	0.31685	2.27E-4	0.0	ENSG00000165905	ENST00000534410	.	.	.	5.76	-7.74	0.01241	.	.	.	.	.	T	0.52273	0.1724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62091	-0.6927	5	0.87932	D	0	-13.4868	4.1139	0.10072	0.4052:0.0725:0.3929:0.1295	.	.	.	.	H	132	.	ENSP00000433328:R132H	R	+	2	0	GYLTL1B	45905658	0.001000	0.12720	0.582000	0.28627	0.922000	0.55478	-1.877000	0.01631	-1.442000	0.01955	-2.010000	0.00438	CGC		0.597	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
PHF21A	51317	broad.mit.edu	37	11	45975087	45975087	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:45975087C>T	ENST00000418153.2	-	10	1282	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	PHF21A_ENST00000323180.6_Silent_p.E362E|PHF21A_ENST00000257821.4_Silent_p.E362E|PHF21A_ENST00000527753.1_5'UTR			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	361					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E362E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CCTGAGGGTTCTCCTCCCGTT	0.488																																					p.E362E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1086A	11						.						174.0	146.0	156.0					11																	45975087		2202	4299	6501	45931663	SO:0001819	synonymous_variant	51317	exon10			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1083G>A	11.37:g.45975087C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45931663	NM_016621	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
CREB3L1	90993	broad.mit.edu	37	11	46321557	46321557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46321557C>A	ENST00000529193.1	+	2	625	c.174C>A	c.(172-174)ttC>ttA	p.F58L	CREB3L1_ENST00000288400.3_Missense_Mutation_p.F58L			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	58	Required for transcriptional activation.				regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.F58L(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TCAGCAGCTTCTTTGATGACC	0.557			T	FUS	myxofibrosarcoma																																p.F58L	Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C174A	11						.						110.0	107.0	108.0					11																	46321557		2069	4223	6292	46278133	SO:0001583	missense	90993	exon2				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.174C>A	11.37:g.46321557C>A	ENSP00000434939:p.Phe58Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46278133	NM_052854	Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560704	0.27827	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000534787	T;T;T	0.51817	0.69;0.69;0.69	5.56	5.56	0.83823	.	2.478430	0.01404	N	0.013739	T	0.52677	0.1749	N	0.16656	0.425	0.41875	D	0.990293	D	0.58268	0.982	D	0.67548	0.952	T	0.57323	-0.7831	10	0.02654	T	1	-32.546	12.8151	0.57660	0.0:0.9254:0.0:0.0746	.	58	Q96BA8	CR3L1_HUMAN	L	58;58;58;12	ENSP00000434939:F58L;ENSP00000288400:F58L;ENSP00000431677:F12L	ENSP00000288400:F58L	F	+	3	2	CREB3L1	46278133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	2.608000	0.88229	0.655000	0.94253	TTC		0.557	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	
HARBI1	283254	broad.mit.edu	37	11	46637686	46637686	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46637686G>T	ENST00000326737.3	-	2	349	c.102C>A	c.(100-102)taC>taA	p.Y34*	ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000359513.4_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	34						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)	p.Y34*(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGGACATCAAGTATTCATCAG	0.473																																					p.Y34X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C102A	11						.						86.0	78.0	80.0					11																	46637686		2201	4299	6500	46594262	SO:0001587	stop_gained	283254	exon2			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.102C>A	11.37:g.46637686G>T	ENSP00000317743:p.Tyr34*	Somatic		Capture	Illumina HiSeq	Phase_I	46594262	NM_173811	D3DQP9	Nonsense_Mutation	SNP	ENST00000326737.3	37	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.841134	0.97009	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	4.46	0.54185	.	0.214452	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.1414	10.7419	0.46158	0.2014:0.0:0.7986:0.0	.	.	.	.	X	34	.	ENSP00000317743:Y34X	Y	-	3	2	HARBI1	46594262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.908000	0.39907	1.279000	0.44446	0.655000	0.94253	TAC		0.473	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811	
ZNF408	79797	broad.mit.edu	37	11	46723112	46723112	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46723112C>T	ENST00000311764.2	+	2	446	c.216C>T	c.(214-216)cgC>cgT	p.R72R	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R72R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGAACAGCGCTTGGGGGTCT	0.667																																					p.R72R	Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	11						.						28.0	33.0	31.0					11																	46723112		2201	4299	6500	46679688	SO:0001819	synonymous_variant	79797	exon2			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.216C>T	11.37:g.46723112C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46679688	NM_024741		Silent	SNP	ENST00000311764.2	37	CCDS7923.1																																																																																				0.667	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741	
CKAP5	9793	broad.mit.edu	37	11	46792537	46792537	+	Intron	SNP	C	C	T	rs534419079		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46792537C>T	ENST00000529230.1	-	25	3038				CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Intron|CKAP5_ENST00000312055.5_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.?(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGAAGCTGCCAAAAGAAATA	0.413																																					.	Ovarian(4;85 273 2202 4844 13323)											.	.	1	Unknown(1)	large_intestine(1)	.	11						.						57.0	58.0	58.0					11																	46792537		2201	4299	6500	46749113	SO:0001627	intron_variant	9793	.				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2992-5G>A	11.37:g.46792537C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46749113	.	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Intron	SNP	ENST00000529230.1	37	CCDS31477.1																																																																																				0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
CKAP5	9793	broad.mit.edu	37	11	46799749	46799749	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46799749C>T	ENST00000529230.1	-	22	2734	c.2688G>A	c.(2686-2688)ccG>ccA	p.P896P	CKAP5_ENST00000354558.3_Silent_p.P896P|CKAP5_ENST00000415402.1_Silent_p.P896P|CKAP5_ENST00000312055.5_Silent_p.P896P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	896					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.P896P(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CACCTATATTCGGTTGGATAA	0.393																																					p.P896P	Ovarian(4;85 273 2202 4844 13323)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2688A	11						.						130.0	135.0	134.0					11																	46799749		2201	4299	6500	46756325	SO:0001819	synonymous_variant	9793	exon22				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2688G>A	11.37:g.46799749C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46756325	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	CCDS31477.1																																																																																				0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
LRP4	4038	broad.mit.edu	37	11	46894655	46894655	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46894655G>A	ENST00000378623.1	-	30	4821	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1527					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R1527C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCCACCTGCGGGTATCATAG	0.498																																					p.R1527C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4579T	11						.						113.0	110.0	111.0					11																	46894655		2201	4299	6500	46851231	SO:0001583	missense	4038	exon30			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4579C>T	11.37:g.46894655G>A	ENSP00000367888:p.Arg1527Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46851231	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120239	0.77323	.	.	ENSG00000134569	ENST00000378623	D	0.95238	-3.65	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96675	0.9499	10	0.66056	D	0.02	.	14.2051	0.65730	0.0:0.0:0.8136:0.1864	.	1527	O75096	LRP4_HUMAN	C	1527	ENSP00000367888:R1527C	ENSP00000367888:R1527C	R	-	1	0	LRP4	46851231	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.885000	0.63142	2.724000	0.93272	0.561000	0.74099	CGC		0.498	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
LRP4	4038	broad.mit.edu	37	11	46898849	46898849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:46898849G>A	ENST00000378623.1	-	23	3420	c.3178C>T	c.(3178-3180)Cgc>Tgc	p.R1060C	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1060					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R1060C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGACCATGCGAATGTCTATC	0.498																																					p.R1060C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3178T	11						.						177.0	140.0	153.0					11																	46898849		2201	4299	6500	46855425	SO:0001583	missense	4038	exon23			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3178C>T	11.37:g.46898849G>A	ENSP00000367888:p.Arg1060Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46855425	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282697	0.80692	.	.	ENSG00000134569	ENST00000378623	D	0.91996	-2.95	6.17	5.27	0.74061	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96128	0.8738	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96687	0.9508	10	0.87932	D	0	.	15.565	0.76284	0.0655:0.0:0.9345:0.0	.	1060	O75096	LRP4_HUMAN	C	1060	ENSP00000367888:R1060C	ENSP00000367888:R1060C	R	-	1	0	LRP4	46855425	1.000000	0.71417	0.918000	0.36340	0.958000	0.62258	7.027000	0.76463	1.636000	0.50526	-0.136000	0.14681	CGC		0.498	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
MADD	8567	broad.mit.edu	37	11	47297480	47297480	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47297480G>A	ENST00000311027.5	+	4	855	c.690G>A	c.(688-690)tcG>tcA	p.S230S	MADD_ENST00000402192.2_Silent_p.S230S|MADD_ENST00000407859.3_Silent_p.S230S|MADD_ENST00000349238.3_Silent_p.S230S|MADD_ENST00000395336.3_Silent_p.S230S|MADD_ENST00000395344.3_Silent_p.S230S|MADD_ENST00000402799.1_Silent_p.S230S|MADD_ENST00000406482.1_Silent_p.S230S|MADD_ENST00000342922.4_Silent_p.S230S	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.S230S(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTACTGGATCGCTGCTGGTAG	0.527																																					p.S230S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	11						.						143.0	130.0	135.0					11																	47297480		2201	4298	6499	47254056	SO:0001819	synonymous_variant	8567	exon4			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.690G>A	11.37:g.47297480G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47254056	NM_130476		Silent	SNP	ENST00000311027.5	37	CCDS7930.1																																																																																				0.527	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MADD	8567	broad.mit.edu	37	11	47298359	47298359	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47298359A>C	ENST00000311027.5	+	5	1205	c.1040A>C	c.(1039-1041)gAg>gCg	p.E347A	MADD_ENST00000402192.2_Missense_Mutation_p.E347A|MADD_ENST00000407859.3_Missense_Mutation_p.E347A|MADD_ENST00000349238.3_Missense_Mutation_p.E347A|MADD_ENST00000395336.3_Missense_Mutation_p.E347A|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.E347A|MADD_ENST00000402799.1_Missense_Mutation_p.E347A|MADD_ENST00000406482.1_Missense_Mutation_p.E347A|MADD_ENST00000342922.4_Missense_Mutation_p.E347A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.E347A(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACCCACTGGAGTATATGTTT	0.527																																					p.E347A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1040C	11						.						255.0	192.0	214.0					11																	47298359		2201	4298	6499	47254935	SO:0001583	missense	8567	exon5			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1040A>C	11.37:g.47298359A>C	ENSP00000310933:p.Glu347Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47254935	NM_130476		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	34	5.400926	0.96030	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.93	5.93	0.95920	DENN (3);	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	M	0.64080	1.96	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.76494	0.999;0.69;0.999;0.971;0.971;0.971;0.971;0.999;0.998;0.999	D;P;D;P;P;P;P;D;D;D	0.91635	0.999;0.564;0.998;0.832;0.832;0.832;0.832;0.996;0.977;0.978	T	0.01508	-1.1337	10	0.87932	D	0	-24.3276	16.3943	0.83563	1.0:0.0:0.0:0.0	.	347;347;347;347;347;347;347;347;347;347	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	A	347;347;125;347;347;347;347;347;347;347;347	ENSP00000343902:E347A;ENSP00000398167:E125A;ENSP00000385585:E347A;ENSP00000384435:E347A;ENSP00000304505:E347A;ENSP00000310933:E347A;ENSP00000384204:E347A;ENSP00000378753:E347A;ENSP00000378745:E347A;ENSP00000384287:E347A	ENSP00000310933:E347A	E	+	2	0	MADD	47254935	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.962000	0.93254	2.281000	0.76405	0.533000	0.62120	GAG		0.527	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MADD	8567	broad.mit.edu	37	11	47305929	47305929	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47305929T>C	ENST00000311027.5	+	12	2135	c.1970T>C	c.(1969-1971)gTg>gCg	p.V657A	MADD_ENST00000402192.2_Missense_Mutation_p.V657A|MADD_ENST00000407859.3_Missense_Mutation_p.V657A|MADD_ENST00000349238.3_Missense_Mutation_p.V657A|MADD_ENST00000395336.3_Missense_Mutation_p.V657A|MADD_ENST00000395344.3_Missense_Mutation_p.V657A|MADD_ENST00000402799.1_Missense_Mutation_p.V657A|MADD_ENST00000406482.1_Missense_Mutation_p.V657A|MADD_ENST00000342922.4_Missense_Mutation_p.V657A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.V657A(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTGGCAGATGTGGACCCTCTG	0.597																																					p.V657A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1970C	11						.						80.0	84.0	82.0					11																	47305929		2201	4298	6499	47262505	SO:0001583	missense	8567	exon12			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1970T>C	11.37:g.47305929T>C	ENSP00000310933:p.Val657Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47262505	NM_130476		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.963714	0.92791	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06218	3.41;3.33;3.33;3.42;3.43;3.35;3.33;3.43;3.41	6.17	6.17	0.99709	.	0.183165	0.47093	D	0.000242	T	0.13670	0.0331	L	0.60455	1.87	0.80722	D	1	B;B;P;B;B;B;P;P;P;P	0.43857	0.046;0.046;0.819;0.076;0.076;0.076;0.708;0.816;0.552;0.532	B;B;P;B;B;B;P;P;B;B	0.47134	0.008;0.018;0.539;0.041;0.041;0.041;0.539;0.469;0.194;0.356	T	0.01600	-1.1315	10	0.33141	T	0.24	-12.0023	16.8222	0.85835	0.0:0.0:0.0:1.0	.	657;657;657;657;657;657;657;657;657;657	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	A	657	ENSP00000343902:V657A;ENSP00000385585:V657A;ENSP00000384435:V657A;ENSP00000304505:V657A;ENSP00000310933:V657A;ENSP00000384204:V657A;ENSP00000378753:V657A;ENSP00000378745:V657A;ENSP00000384287:V657A	ENSP00000310933:V657A	V	+	2	0	MADD	47262505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.371000	0.80710	0.533000	0.62120	GTG		0.597	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MADD	8567	broad.mit.edu	37	11	47317470	47317470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47317470C>T	ENST00000311027.5	+	24	3788	c.3623C>T	c.(3622-3624)aCc>aTc	p.T1208I	MADD_ENST00000402192.2_Missense_Mutation_p.T1169I|MADD_ENST00000407859.3_Missense_Mutation_p.T1147I|MADD_ENST00000349238.3_Missense_Mutation_p.T1190I|MADD_ENST00000395336.3_Missense_Mutation_p.T1208I|MADD_ENST00000395344.3_Missense_Mutation_p.T1123I|MADD_ENST00000402799.1_Missense_Mutation_p.T1127I|MADD_ENST00000406482.1_Missense_Mutation_p.T1127I|MADD_ENST00000342922.4_Missense_Mutation_p.T1170I|MADD_ENST00000405573.2_Missense_Mutation_p.T18I	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.T1208I(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCTGGAGAGACCCTTGGAGCT	0.542																																					p.T1169I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3506T	11						.						113.0	116.0	115.0					11																	47317470		2201	4298	6499	47274046	SO:0001583	missense	8567	exon22			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3623C>T	11.37:g.47317470C>T	ENSP00000310933:p.Thr1208Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47274046	NM_130476		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837029	0.91117	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.58506	3.27;3.07;3.07;3.28;3.05;3.09;2.97;3.04;3.16;0.33	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.959;0.996;0.999;0.998;0.998;0.998;0.998;0.998;0.997;0.998	T	0.71276	-0.4641	10	0.72032	D	0.01	-20.4251	19.9351	0.97137	0.0:1.0:0.0:0.0	.	18;1123;1123;1208;1127;1127;1127;1190;1147;1208;1170	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	I	1170;1127;1127;1127;1190;1208;1147;1123;1208;1169;18	ENSP00000343902:T1170I;ENSP00000385585:T1127I;ENSP00000384435:T1127I;ENSP00000304505:T1190I;ENSP00000310933:T1208I;ENSP00000384204:T1147I;ENSP00000378753:T1123I;ENSP00000378745:T1208I;ENSP00000384287:T1169I;ENSP00000384483:T18I	ENSP00000310933:T1208I	T	+	2	0	MADD	47274046	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.287000	0.78681	2.703000	0.92315	0.655000	0.94253	ACC		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
RAPSN	5913	broad.mit.edu	37	11	47469545	47469545	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47469545G>A	ENST00000298854.2	-	2	563	c.350C>T	c.(349-351)gCa>gTa	p.A117V	RAPSN_ENST00000529341.1_Missense_Mutation_p.A117V|RAPSN_ENST00000352508.3_Missense_Mutation_p.A117V|RAPSN_ENST00000524487.1_Missense_Mutation_p.A117V	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	117					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.A117V(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTGGGCACCTGCCCTGGTACC	0.617																																					p.A117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	11						.						71.0	55.0	60.0					11																	47469545		2201	4298	6499	47426121	SO:0001583	missense	5913	exon2				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.350C>T	11.37:g.47469545G>A	ENSP00000298854:p.Ala117Val	Somatic		Capture	Illumina HiSeq	Phase_I	47426121	NM_032645	Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038851	0.19669	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	D;T;T;T	0.93604	-3.25;1.09;1.09;1.09	5.14	2.97	0.34412	Tetratricopeptide-like helical (1);	0.167220	0.52532	N	0.000074	T	0.80665	0.4666	N	0.03608	-0.345	0.32410	N	0.550818	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.75499	-0.3296	10	0.25751	T	0.34	-6.7258	6.9511	0.24546	0.3844:0.0:0.6156:0.0	.	117;117;117	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	V	117	ENSP00000298854:A117V;ENSP00000298853:A117V;ENSP00000435551:A117V;ENSP00000431732:A117V	ENSP00000298854:A117V	A	-	2	0	RAPSN	47426121	0.998000	0.40836	0.819000	0.32651	0.994000	0.84299	3.522000	0.53480	1.121000	0.41925	0.557000	0.71058	GCA		0.617	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1		
MTCH2	23788	broad.mit.edu	37	11	47650555	47650555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47650555G>T	ENST00000302503.3	-	9	740	c.583C>A	c.(583-585)Ctg>Atg	p.L195M	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.L47M	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	195					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.L195M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAGTTACACAGCCACAAAGAA	0.453																																					p.L195M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583A	11						.						123.0	97.0	106.0					11																	47650555		2201	4298	6499	47607131	SO:0001583	missense	23788	exon9			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.583C>A	11.37:g.47650555G>T	ENSP00000303222:p.Leu195Met	Somatic		Capture	Illumina HiSeq	Phase_I	47607131	NM_014342	B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353795	0.61293	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	T;T;T	0.80123	0.96;-1.34;0.96	5.69	5.69	0.88448	Mitochondrial carrier domain (2);	0.056975	0.64402	D	0.000002	T	0.81059	0.4744	L	0.49350	1.555	0.40319	D	0.978802	P	0.46142	0.873	P	0.48738	0.588	T	0.81739	-0.0795	10	0.48119	T	0.1	.	13.603	0.62031	0.0:0.0:0.8446:0.1554	.	195	Q9Y6C9	MTCH2_HUMAN	M	195;47;186	ENSP00000303222:L195M;ENSP00000439013:L47M;ENSP00000432043:L186M	ENSP00000303222:L195M	L	-	1	2	MTCH2	47607131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.608000	0.54109	2.702000	0.92279	0.558000	0.71614	CTG		0.453	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	
MTCH2	23788	broad.mit.edu	37	11	47652109	47652109	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47652109G>A	ENST00000302503.3	-	8	694	c.537C>T	c.(535-537)ttC>ttT	p.F179F	MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Silent_p.F31F	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	179					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.F179F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TTACTCACGCGAAAAATCCTA	0.348																																					p.F179F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C537T	11						.						129.0	122.0	124.0					11																	47652109		2201	4298	6499	47608685	SO:0001819	synonymous_variant	23788	exon8			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.537C>T	11.37:g.47652109G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47608685	NM_014342	B2R7L8	Silent	SNP	ENST00000302503.3	37	CCDS7943.1																																																																																				0.348	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	
AGBL2	79841	broad.mit.edu	37	11	47731935	47731935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47731935G>A	ENST00000525123.1	-	4	511	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	AGBL2_ENST00000528244.1_Missense_Mutation_p.L76F|AGBL2_ENST00000357610.3_Missense_Mutation_p.L76F|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.L76F	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	76						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L76F(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCACATAGAAGCTTCTCCTTT	0.443																																					p.L76F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	11						.						163.0	148.0	153.0					11																	47731935		2201	4298	6499	47688511	SO:0001583	missense	79841	exon3				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.226C>T	11.37:g.47731935G>A	ENSP00000435582:p.Leu76Phe	Somatic		Capture	Illumina HiSeq	Phase_I	47688511	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901955	0.33535	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.42513	1.7;1.7;1.7;1.7;0.97;1.7;1.7	4.82	3.89	0.44902	.	1.140500	0.06663	N	0.764786	T	0.43656	0.1257	M	0.64997	1.995	0.23277	N	0.997997	B;B;B	0.13145	0.007;0.004;0.001	B;B;B	0.12156	0.007;0.007;0.002	T	0.35425	-0.9789	10	0.45353	T	0.12	-2.9426	9.4711	0.38842	0.1005:0.0:0.8995:0.0	.	76;76;76	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	F	76;76;76;76;76;76;56;76	ENSP00000435582:L76F;ENSP00000350228:L76F;ENSP00000298861:L76F;ENSP00000436630:L76F;ENSP00000436063:L76F;ENSP00000432264:L56F;ENSP00000436518:L76F	ENSP00000298861:L76F	L	-	1	0	AGBL2	47688511	0.990000	0.36364	0.305000	0.25099	0.940000	0.58332	1.806000	0.38892	1.002000	0.39104	0.585000	0.79938	CTT		0.443	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
FNBP4	23360	broad.mit.edu	37	11	47746225	47746225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47746225G>A	ENST00000263773.5	-	13	2126	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	snoU13_ENST00000516638.1_RNA|Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	705	Pro-rich.					nucleus (GO:0005634)		p.P705L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGGTAATGGAGGTTGAAGCAC	0.512																																					p.P705L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2114T	11						.						75.0	77.0	76.0					11																	47746225		1947	4133	6080	47702801	SO:0001583	missense	23360	exon13			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2114C>T	11.37:g.47746225G>A	ENSP00000263773:p.Pro705Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47702801	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614581	0.87359	.	.	ENSG00000109920	ENST00000263773	T	0.37752	1.18	5.25	5.25	0.73442	.	0.259259	0.38381	N	0.001715	T	0.59004	0.2162	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60796	-0.7192	10	0.72032	D	0.01	-14.1883	17.3883	0.87423	0.0:0.0:1.0:0.0	.	705	Q8N3X1	FNBP4_HUMAN	L	705	ENSP00000263773:P705L	ENSP00000263773:P705L	P	-	2	0	FNBP4	47702801	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.376000	0.90138	2.633000	0.89246	0.491000	0.48974	CCT		0.512	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
FNBP4	23360	broad.mit.edu	37	11	47755640	47755640	+	Silent	SNP	G	G	A	rs199684795		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:47755640G>A	ENST00000263773.5	-	10	1635	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	541						nucleus (GO:0005634)		p.F541F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTAGAAACTCGAATTTACTTG	0.323													A|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.001		0.0	False		,,,				2504	0.0				p.F541F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1623T	11						.						114.0	110.0	111.0					11																	47755640		1836	4093	5929	47712216	SO:0001819	synonymous_variant	23360	exon10			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1623C>T	11.37:g.47755640G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47712216	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																				0.323	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
OR4B1	119765	broad.mit.edu	37	11	48238565	48238565	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:48238565G>A	ENST00000309562.2	+	1	222	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E68E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTGGTGGAGATCAGTTATT	0.473																																					p.E68E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	11						.						185.0	172.0	176.0					11																	48238565		2201	4298	6499	48195141	SO:0001819	synonymous_variant	119765	exon1			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.204G>A	11.37:g.48238565G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48195141	NM_001005470	Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	CCDS31485.1																																																																																				0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
OR4X2	119764	broad.mit.edu	37	11	48267086	48267086	+	Missense_Mutation	SNP	G	G	A	rs146154851		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:48267086G>A	ENST00000302329.3	+	1	479	c.431G>A	c.(430-432)gGc>gAc	p.G144D		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G144D(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGTGGGAGGCTTCATGCAT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22987	0.0		0.0	False		,,,				2504	0.0				p.G144D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	11						.						251.0	207.0	222.0					11																	48267086		2201	4298	6499	48223662	SO:0001583	missense	119764	exon1			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.431G>A	11.37:g.48267086G>A	ENSP00000307751:p.Gly144Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48223662	NM_001004727	B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	CCDS31486.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.82	2.648468	0.47258	.	.	ENSG00000172208	ENST00000302329	T	0.40756	1.02	5.37	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.76154	0.3948	H	0.98646	4.29	0.34509	D	0.706901	D	0.56287	0.975	D	0.66084	0.941	D	0.88900	0.3352	10	0.72032	D	0.01	.	13.4226	0.61007	0.0:0.0:0.8417:0.1583	.	144	Q8NGF9	OR4X2_HUMAN	D	144	ENSP00000307751:G144D	ENSP00000307751:G144D	G	+	2	0	OR4X2	48223662	0.997000	0.39634	0.430000	0.26722	0.455000	0.32408	3.196000	0.51020	1.260000	0.44134	-0.133000	0.14855	GGC		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
OR4C3	256144	broad.mit.edu	37	11	48346757	48346757	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:48346757G>A	ENST00000319856.4	+	1	286	c.265G>A	c.(265-267)Gcc>Acc	p.A89T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A89T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTTTTCCTGGCCAACCTATC	0.458																																					p.A89T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	11						.						144.0	127.0	133.0					11																	48346757		2201	4298	6499	48303333	SO:0001583	missense	256144	exon1			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.265G>A	11.37:g.48346757G>A	ENSP00000321419:p.Ala89Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48303333	NM_001004702	B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672257	0.29693	.	.	ENSG00000176547	ENST00000319856	T	0.01099	5.34	5.87	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.786555	0.11068	N	0.603247	T	0.01189	0.0039	L	0.28608	0.87	0.09310	N	1	B	0.15473	0.013	B	0.15870	0.014	T	0.46190	-0.9209	10	0.37606	T	0.19	.	8.4083	0.32627	0.0737:0.0:0.4155:0.5108	.	62	Q8NH37	OR4C3_HUMAN	T	89	ENSP00000321419:A89T	ENSP00000321419:A89T	A	+	1	0	OR4C3	48303333	0.000000	0.05858	0.047000	0.18901	0.795000	0.44927	-1.042000	0.03539	0.234000	0.21139	0.543000	0.68304	GCC		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
OR4A47	403253	broad.mit.edu	37	11	48510780	48510780	+	Missense_Mutation	SNP	T	T	C	rs542663835		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:48510780T>C	ENST00000446524.1	+	1	512	c.436T>C	c.(436-438)Tcc>Ccc	p.S146P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S146P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCTGGTAGTGTCCTGGGTTGG	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		20817	0.001		0.0	False		,,,				2504	0.0				p.S146P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T436C	11						.						125.0	109.0	114.0					11																	48510780		2201	4298	6499	48467356	SO:0001583	missense	403253	exon1			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.436T>C	11.37:g.48510780T>C	ENSP00000412752:p.Ser146Pro	Somatic		Capture	Illumina HiSeq	Phase_I	48467356	NM_001005512		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.979	1.227673	0.22542	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.84	-0.984	0.10259	GPCR, rhodopsin-like superfamily (1);	0.255354	0.27539	N	0.018912	T	0.56217	0.1970	M	0.78637	2.42	0.19945	N	0.999944	D	0.71674	0.998	D	0.69824	0.966	T	0.45454	-0.9260	10	0.72032	D	0.01	.	7.0418	0.25025	0.0:0.0862:0.3898:0.524	.	146	Q6IF82	O4A47_HUMAN	P	146	ENSP00000412752:S146P	ENSP00000412752:S146P	S	+	1	0	OR4A47	48467356	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	0.246000	0.18160	0.197000	0.20387	-0.473000	0.04963	TCC		0.448	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512	
FOLH1	2346	broad.mit.edu	37	11	49190746	49190746	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:49190746C>T	ENST00000256999.2	-	12	1633		c.e12+1		FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000525629.1_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000340334.7_Splice_Site	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACGATATTCACCTTCTATAGA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						80.0	79.0	79.0					11																	49190746		2201	4295	6496	49147322	SO:0001630	splice_region_variant	2346	.			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1372+1G>A	11.37:g.49190746C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49147322	.	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Splice_Site	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265277	0.59431	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1224	0.65198	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOLH1	49147322	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	5.671000	0.68095	2.174000	0.68829	0.603000	0.83216	.		0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	Intron
FOLH1	2346	broad.mit.edu	37	11	49221834	49221834	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:49221834G>T	ENST00000256999.2	-	3	644	c.384C>A	c.(382-384)atC>atA	p.I128I	FOLH1_ENST00000533034.1_Silent_p.I113I|FOLH1_ENST00000356696.3_Silent_p.I128I|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000340334.7_Silent_p.I113I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	128					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.I128I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TAATTATTGAGATGTAGTTGG	0.318																																					p.I113I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339A	11						.						43.0	39.0	41.0					11																	49221834		2199	4291	6490	49178410	SO:0001819	synonymous_variant	2346	exon4			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.384C>A	11.37:g.49221834G>T		Somatic		Capture	Illumina HiSeq	Phase_I	49178410	NM_001193472	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.318	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
FOLH1	2346	broad.mit.edu	37	11	49222005	49222005	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:49222005A>C	ENST00000256999.2	-	3	485				FOLH1_ENST00000533034.1_Intron|FOLH1_ENST00000356696.3_Intron|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000340334.7_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGGTGAACAAAAATTGAAAGT	0.323																																					.												.	.	0			.	11						.						62.0	59.0	60.0					11																	49222005		2201	4298	6499	49178581	SO:0001627	intron_variant	2346	.			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.225-12T>G	11.37:g.49222005A>C		Somatic		Capture	Illumina HiSeq	Phase_I	49178581	.	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Intron	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4C13	283092	broad.mit.edu	37	11	49973980	49973980	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:49973980G>A	ENST00000555099.1	+	1	38	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	2			A -> V (in dbSNP:rs28378220).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A2A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AATACATGGCGAATAGAAACA	0.289																																					p.A2A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6A	11						.						77.0	77.0	77.0					11																	49973980		2201	4296	6497	49930556	SO:0001819	synonymous_variant	283092	exon1			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.6G>A	11.37:g.49973980G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49930556	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	CCDS31495.1																																																																																				0.289	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4C13	283092	broad.mit.edu	37	11	49974152	49974152	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:49974152T>G	ENST00000555099.1	+	1	210	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F60V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CATGTACTTTTTCCTGGCCTA	0.428																																					p.F60V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T178G	11						.						250.0	228.0	235.0					11																	49974152		2201	4296	6497	49930728	SO:0001583	missense	283092	exon1			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.178T>G	11.37:g.49974152T>G	ENSP00000452277:p.Phe60Val	Somatic		Capture	Illumina HiSeq	Phase_I	49930728	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	8.348	0.830323	0.16749	.	.	ENSG00000258817	ENST00000555099	T	0.14391	2.51	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.34279	0.0892	H	0.98965	4.385	0.32976	D	0.523035	P	0.34909	0.475	B	0.37144	0.242	T	0.58335	-0.7654	9	.	.	.	.	9.2896	0.37778	0.0:0.0:0.0:1.0	.	60	Q8NGP0	OR4CD_HUMAN	V	60	ENSP00000452277:F60V	.	F	+	1	0	OR4C13	49930728	0.993000	0.37304	0.972000	0.41901	0.089000	0.18198	2.213000	0.42844	1.346000	0.45694	0.164000	0.16699	TTC		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4C12	283093	broad.mit.edu	37	11	50003776	50003776	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:50003776T>A	ENST00000335238.4	-	1	295	c.262A>T	c.(262-264)Aaa>Taa	p.K88*		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K88*(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GAGATGATTTTCTTCTCTTGA	0.433																																					p.K88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A262T	11						.						100.0	101.0	100.0					11																	50003776		2201	4296	6497	49960352	SO:0001587	stop_gained	283093	exon1			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.262A>T	11.37:g.50003776T>A	ENSP00000334418:p.Lys88*	Somatic		Capture	Illumina HiSeq	Phase_I	49960352	NM_001005270	B2RNF0|Q6IF49	Nonsense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	15.94	2.982021	0.53827	.	.	ENSG00000221954	ENST00000335238	.	.	.	3.31	3.31	0.37934	.	0.147749	0.30492	U	0.009507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0552	0.42241	0.0:0.0:0.0:1.0	.	.	.	.	X	88	.	ENSP00000334418:K88X	K	-	1	0	OR4C12	49960352	0.968000	0.33430	0.024000	0.17045	0.893000	0.52053	6.048000	0.71046	1.528000	0.49103	0.325000	0.21440	AAA		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR4C12	283093	broad.mit.edu	37	11	50003932	50003932	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:50003932T>C	ENST00000335238.4	-	1	139	c.106A>G	c.(106-108)Aca>Gca	p.T36A		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T36A(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CCTGAAAGTGTTATCATGTAA	0.413																																					p.T36A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A106G	11						.						69.0	67.0	68.0					11																	50003932		2201	4296	6497	49960508	SO:0001583	missense	283093	exon1			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.106A>G	11.37:g.50003932T>C	ENSP00000334418:p.Thr36Ala	Somatic		Capture	Illumina HiSeq	Phase_I	49960508	NM_001005270	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536750	0.27475	.	.	ENSG00000221954	ENST00000335238	T	0.00504	6.94	3.31	2.15	0.27550	.	0.000000	0.43260	U	0.000595	T	0.00608	0.0020	M	0.69358	2.11	0.09310	N	1	B	0.19706	0.038	B	0.30572	0.117	T	0.40831	-0.9542	10	0.66056	D	0.02	.	6.8789	0.24163	0.0:0.1201:0.0:0.8798	.	36	Q96R67	OR4CC_HUMAN	A	36	ENSP00000334418:T36A	ENSP00000334418:T36A	T	-	1	0	OR4C12	49960508	0.003000	0.15002	0.003000	0.11579	0.243000	0.25628	1.238000	0.32707	0.481000	0.27557	0.325000	0.21440	ACA		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR4A5	81318	broad.mit.edu	37	11	51411510	51411510	+	Nonsense_Mutation	SNP	C	C	A	rs74522421	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:51411510C>A	ENST00000319760.6	-	1	938	c.886G>T	c.(886-888)Gaa>Taa	p.E296*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E296*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAGAGTTTTTCTATAGCATTT	0.358																																					p.E296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G886T	11						.						25.0	27.0	26.0					11																	51411510		2195	4294	6489	51268086	SO:0001587	stop_gained	81318	exon1			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.886G>T	11.37:g.51411510C>A	ENSP00000367664:p.Glu296*	Somatic		Capture	Illumina HiSeq	Phase_I	51268086	NM_001005272	Q6IF84	Nonsense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	7.357	0.624031	0.14193	.	.	ENSG00000221840	ENST00000319760	.	.	.	2.2	1.26	0.21427	.	1.432180	0.04614	N	0.400850	.	.	.	.	.	.	0.29623	N	0.846036	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3478	0.11141	0.0:0.6529:0.0:0.3471	.	.	.	.	X	296	.	ENSP00000367664:E296X	E	-	1	0	OR4A5	51268086	0.000000	0.05858	0.012000	0.15200	0.362000	0.29581	-2.400000	0.01049	0.490000	0.27771	0.162000	0.16502	GAA		0.358	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR4A5	81318	broad.mit.edu	37	11	51412278	51412278	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:51412278T>C	ENST00000319760.6	-	1	170	c.118A>G	c.(118-120)Aac>Gac	p.N40D		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N40D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATGAGCAGGTTCCCCACCACT	0.438																																					p.N40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118G	11						.						58.0	53.0	55.0					11																	51412278		2201	4296	6497	51268854	SO:0001583	missense	81318	exon1			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.118A>G	11.37:g.51412278T>C	ENSP00000367664:p.Asn40Asp	Somatic		Capture	Illumina HiSeq	Phase_I	51268854	NM_001005272	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	9.840	1.190709	0.21954	.	.	ENSG00000221840	ENST00000319760	T	0.75704	-0.96	2.01	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	D	0.88503	0.6454	H	0.98238	4.18	0.22842	N	0.998664	D	0.67145	0.996	D	0.64595	0.927	T	0.79095	-0.1944	10	0.87932	D	0	.	7.9849	0.30205	0.0:0.0:0.0:1.0	.	40	Q8NH83	OR4A5_HUMAN	D	40	ENSP00000367664:N40D	ENSP00000367664:N40D	N	-	1	0	OR4A5	51268854	1.000000	0.71417	0.981000	0.43875	0.042000	0.13812	6.525000	0.73795	1.181000	0.42912	0.136000	0.15936	AAC		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR4C46	119749	broad.mit.edu	37	11	51515297	51515297	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:51515297A>C	ENST00000328188.1	+	1	16	c.16A>C	c.(16-18)Aac>Cac	p.N6H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6H(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAATAGGAATAACATGACAGA	0.299																																					p.N6H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A16C	11						.						123.0	118.0	120.0					11																	51515297		2201	4296	6497	51371873	SO:0001583	missense	119749	exon1				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.16A>C	11.37:g.51515297A>C	ENSP00000329056:p.Asn6His	Somatic		Capture	Illumina HiSeq	Phase_I	51371873	NM_001004703		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.693608	0.30052	.	.	ENSG00000185926	ENST00000328188	T	0.19532	2.14	2.47	1.12	0.20585	.	0.000000	0.36665	U	0.002467	T	0.31513	0.0799	L	0.49256	1.55	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.01874	-1.1256	10	0.72032	D	0.01	.	5.0101	0.14308	0.6846:0.3154:0.0:0.0	.	6	A6NHA9	O4C46_HUMAN	H	6	ENSP00000329056:N6H	ENSP00000329056:N6H	N	+	1	0	OR4C46	51371873	0.000000	0.05858	0.498000	0.27564	0.004000	0.04260	0.660000	0.25009	1.172000	0.42781	0.113000	0.15668	AAC		0.299	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4A16	81327	broad.mit.edu	37	11	55111519	55111519	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55111519T>C	ENST00000314721.2	+	1	893	c.843T>C	c.(841-843)aaT>aaC	p.N281N		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N281N(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCATGTTGAATCCTTTAATAT	0.313																																					p.N281N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T843C	11						.						75.0	72.0	73.0					11																	55111519		2201	4296	6497	54868095	SO:0001819	synonymous_variant	81327	exon1			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.843T>C	11.37:g.55111519T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54868095	NM_001005274	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																				0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR4A15	81328	broad.mit.edu	37	11	55135683	55135683	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55135683A>C	ENST00000314706.3	+	1	324	c.324A>C	c.(322-324)aaA>aaC	p.K108N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K108N(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTCCCAAAATGATTGTTG	0.418																																					p.K108N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A324C	11						.						143.0	142.0	142.0					11																	55135683		2201	4296	6497	54892259	SO:0001583	missense	81328	exon1			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.324A>C	11.37:g.55135683A>C	ENSP00000325065:p.Lys108Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54892259	NM_001005275	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.732466	0.30684	.	.	ENSG00000181958	ENST00000314706	T	0.00469	7.21	3.48	-6.96	0.01622	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00384	0.0012	M	0.73753	2.245	0.09310	N	1	B	0.15473	0.013	B	0.20184	0.028	T	0.49303	-0.8954	10	0.56958	D	0.05	.	3.5657	0.07899	0.3519:0.0:0.281:0.3671	.	108	Q8NGL6	O4A15_HUMAN	N	108	ENSP00000325065:K108N	ENSP00000325065:K108N	K	+	3	2	OR4A15	54892259	0.000000	0.05858	0.001000	0.08648	0.206000	0.24218	-4.481000	0.00227	-1.662000	0.01482	0.403000	0.27427	AAA		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR4C16	219428	broad.mit.edu	37	11	55340253	55340253	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55340253T>C	ENST00000314634.3	+	1	650	c.650T>C	c.(649-651)gTc>gCc	p.V217A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V217A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCTCCTATGTCATCTTCTTG	0.418																																					p.V217A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T650C	11						.						132.0	111.0	118.0					11																	55340253		2201	4296	6497	55096829	SO:0001583	missense	219428	exon1			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.650T>C	11.37:g.55340253T>C	ENSP00000324913:p.Val217Ala	Somatic		Capture	Illumina HiSeq	Phase_I	55096829	NM_001004701	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	3.568	-0.088216	0.07097	.	.	ENSG00000181935	ENST00000314634	T	0.00216	8.53	4.98	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	0.735063	0.12526	N	0.461266	T	0.00109	0.0003	N	0.13235	0.315	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.08513	-1.0718	10	0.44086	T	0.13	.	5.9081	0.19012	0.0:0.3132:0.1323:0.5546	.	217	Q8NGL9	OR4CG_HUMAN	A	217	ENSP00000324913:V217A	ENSP00000324913:V217A	V	+	2	0	OR4C16	55096829	0.000000	0.05858	0.018000	0.16275	0.022000	0.10575	-1.384000	0.02542	-0.167000	0.10871	-0.432000	0.05891	GTC		0.418	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701	
OR4S2	219431	broad.mit.edu	37	11	55418649	55418649	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55418649C>A	ENST00000312422.2	+	1	270	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I90I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACAAAACCATCTCCTATGTGG	0.413																																					p.I90I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270A	11						.						241.0	198.0	213.0					11																	55418649		2184	4044	6228	55175225	SO:0001819	synonymous_variant	219431	exon1			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.270C>A	11.37:g.55418649C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55175225	NM_001004059	Q6IF72	Silent	SNP	ENST00000312422.2	37	CCDS31505.1																																																																																				0.413	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
OR5D16	390144	broad.mit.edu	37	11	55606947	55606947	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55606947C>A	ENST00000378396.1	+	1	720	c.720C>A	c.(718-720)ttC>ttA	p.F240L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F240L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCAAAGTCTTCTCCACCTGTG	0.488																																					p.F240L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C720A	11						.						155.0	131.0	139.0					11																	55606947		2201	4296	6497	55363523	SO:0001583	missense	390144	exon1			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.720C>A	11.37:g.55606947C>A	ENSP00000367649:p.Phe240Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55363523	NM_001005496	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.993711	0.54041	.	.	ENSG00000205029	ENST00000378396	T	0.00269	8.37	4.2	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.76727	2.345	0.23120	N	0.998264	D	0.56746	0.977	D	0.66602	0.945	T	0.46843	-0.9162	9	0.54805	T	0.06	-60.3162	6.0293	0.19671	0.0:0.5169:0.1326:0.3506	.	240	Q8NGK9	OR5DG_HUMAN	L	240	ENSP00000367649:F240L	ENSP00000367649:F240L	F	+	3	2	OR5D16	55363523	0.000000	0.05858	0.389000	0.26208	0.643000	0.38383	-2.310000	0.01129	0.034000	0.15491	0.537000	0.68136	TTC		0.488	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR5W2	390148	broad.mit.edu	37	11	55681540	55681540	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55681540C>A	ENST00000344514.1	-	1	518	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E173D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGATTAATCTCATTAGACC	0.418																																					p.E173D	Melanoma(48;171 1190 15239 43886 49348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G519T	11						.						83.0	77.0	79.0					11																	55681540		2201	4296	6497	55438116	SO:0001583	missense	390148	exon1			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.519G>T	11.37:g.55681540C>A	ENSP00000342448:p.Glu173Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55438116	NM_001001960		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415864	0.42817	.	.	ENSG00000187612	ENST00000344514	T	0.00145	8.67	5.0	0.391	0.16282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001006	T	0.00241	0.0007	M	0.76727	2.345	0.26280	N	0.978286	P	0.38250	0.624	P	0.51701	0.677	T	0.43180	-0.9407	10	0.72032	D	0.01	.	0.3404	0.00332	0.3105:0.2968:0.1619:0.2308	.	173	Q8NH69	OR5W2_HUMAN	D	173	ENSP00000342448:E173D	ENSP00000342448:E173D	E	-	3	2	OR5W2	55438116	0.000000	0.05858	0.646000	0.29493	0.985000	0.73830	-3.140000	0.00586	0.073000	0.16731	0.542000	0.68232	GAG		0.418	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR5I1	10798	broad.mit.edu	37	11	55702965	55702965	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55702965C>T	ENST00000301532.3	-	1	911	c.912G>A	c.(910-912)gaG>gaA	p.E304E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	304					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E304E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAGAACTTTCTCAGCTGCAT	0.333																																					p.E304E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G912A	11						.						65.0	62.0	63.0					11																	55702965		2200	4294	6494	55459541	SO:0001819	synonymous_variant	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.912G>A	11.37:g.55702965C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55459541	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																				0.333	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR10AG1	282770	broad.mit.edu	37	11	55735207	55735207	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55735207C>T	ENST00000312345.2	-	1	783	c.733G>A	c.(733-735)Gca>Aca	p.A245T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A245T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATAGTACCTGCTCCAAAGAAT	0.388																																					p.A245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	11						.						65.0	65.0	65.0					11																	55735207		2201	4296	6497	55491783	SO:0001583	missense	282770	exon1			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.733G>A	11.37:g.55735207C>T	ENSP00000311477:p.Ala245Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55491783	NM_001005491	B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	9.767	1.171529	0.21704	.	.	ENSG00000174970	ENST00000312345	T	0.00019	9.06	5.37	-8.09	0.01090	GPCR, rhodopsin-like superfamily (1);	0.837900	0.10450	N	0.673191	T	0.00039	0.0001	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21280	-1.0250	10	0.07325	T	0.83	.	8.4531	0.32882	0.6421:0.0667:0.0:0.2912	.	245	Q8NH19	O10AG_HUMAN	T	245	ENSP00000311477:A245T	ENSP00000311477:A245T	A	-	1	0	OR10AG1	55491783	0.000000	0.05858	0.114000	0.21550	0.808000	0.45660	-2.015000	0.01447	-1.096000	0.03046	-0.499000	0.04595	GCA		0.388	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
OR5AS1	219447	broad.mit.edu	37	11	55797986	55797986	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55797986T>C	ENST00000313555.1	+	1	92	c.92T>C	c.(91-93)tTc>tCc	p.F31S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31S(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCTTGGTATTCCTTCTGGTA	0.328																																					p.F31S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T92C	11						.						87.0	86.0	86.0					11																	55797986		2201	4296	6497	55554562	SO:0001583	missense	219447	exon1			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.92T>C	11.37:g.55797986T>C	ENSP00000324111:p.Phe31Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55554562	NM_001001921	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760415	0.31137	.	.	ENSG00000181785	ENST00000313555	T	0.04551	3.6	5.47	4.33	0.51752	.	0.225081	0.22620	U	0.057715	T	0.12817	0.0311	M	0.86420	2.815	0.22401	N	0.999136	P	0.43477	0.808	B	0.43508	0.422	T	0.08249	-1.0731	10	0.87932	D	0	.	11.5724	0.50841	0.0:0.0:0.1499:0.8501	.	31	Q8N127	O5AS1_HUMAN	S	31	ENSP00000324111:F31S	ENSP00000324111:F31S	F	+	2	0	OR5AS1	55554562	1.000000	0.71417	0.074000	0.20217	0.009000	0.06853	5.726000	0.68515	0.884000	0.36064	-0.329000	0.08387	TTC		0.328	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
OR8H3	390152	broad.mit.edu	37	11	55890054	55890054	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55890054T>G	ENST00000313472.3	+	1	206	c.206T>G	c.(205-207)tTt>tGt	p.F69C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F69C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CACCTGTCATTTATTGACCTC	0.443																																					p.F69C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T206G	11						.						237.0	237.0	237.0					11																	55890054		2201	4293	6494	55646630	SO:0001583	missense	390152	exon1			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.206T>G	11.37:g.55890054T>G	ENSP00000323928:p.Phe69Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55646630	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	5.985	0.365740	0.11352	.	.	ENSG00000181761	ENST00000313472	T	0.01005	5.45	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.244722	0.29508	N	0.011953	T	0.01730	0.0055	M	0.72576	2.205	0.09310	N	1	B	0.31227	0.314	B	0.30105	0.111	T	0.31558	-0.9939	10	0.54805	T	0.06	.	12.2538	0.54613	0.0:0.0:0.0:1.0	.	69	Q8N146	OR8H3_HUMAN	C	69	ENSP00000323928:F69C	ENSP00000323928:F69C	F	+	2	0	OR8H3	55646630	0.066000	0.20996	0.994000	0.49952	0.180000	0.23129	2.709000	0.47160	1.325000	0.45301	0.145000	0.16022	TTT		0.443	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
OR5J2	282775	broad.mit.edu	37	11	55944981	55944981	+	Silent	SNP	C	C	T	rs142214796		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:55944981C>T	ENST00000312298.1	+	1	888	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAAACAAGGACGTAAAGGAGG	0.383													.|||	1	0.000199681	0.0	0.0	5008	,	,		21790	0.001		0.0	False		,,,				2504	0.0				p.D296D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C888T	11						.						69.0	76.0	74.0					11																	55944981		2201	4295	6496	55701557	SO:0001819	synonymous_variant	282775	exon1			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.888C>T	11.37:g.55944981C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55701557	NM_001005492	Q6IEU5	Silent	SNP	ENST00000312298.1	37	CCDS31522.1																																																																																				0.383	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
OR5T3	390154	broad.mit.edu	37	11	56019664	56019664	+	5'Flank	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56019664G>T	ENST00000303059.3	+	0	0					NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3							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)					AAAAAAACAAGGATACAATTG	0.333																																					.												.	.	0			.	11						.						38.0	36.0	37.0					11																	56019664		2200	4295	6495	55776240	SO:0001631	upstream_gene_variant	390154	.			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		11.37:g.56019664G>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	55776240	.	Q6IFC7	5'Flank	SNP	ENST00000303059.3	37	CCDS31524.1																																																																																				0.333	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
OR8K3	219473	broad.mit.edu	37	11	56086117	56086117	+	Missense_Mutation	SNP	T	T	G	rs374707957		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56086117T>G	ENST00000312711.1	+	1	335	c.335T>G	c.(334-336)cTt>cGt	p.L112R		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGTAGTGAACTTTTTATTCTC	0.378																																					p.L112R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T335G	11						.	T	ARG/LEU	0,4402		0,0,2201	98.0	96.0	97.0		335	4.6	0.1	11		97	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR8K3	NM_001005202.1	102	0,1,6496	GG,GT,TT		0.0116,0.0,0.0077	possibly-damaging	112/313	56086117	1,12993	2201	4296	6497	55842693	SO:0001583	missense	219473	exon1			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.335T>G	11.37:g.56086117T>G	ENSP00000323555:p.Leu112Arg	Somatic		Capture	Illumina HiSeq	Phase_I	55842693	NM_001005202	Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	7.790	0.711407	0.15239	0.0	1.16E-4	ENSG00000181689	ENST00000312711	T	0.00949	5.51	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.119337	0.38436	N	0.001685	T	0.01092	0.0036	N	0.26042	0.785	0.09310	N	1	P	0.44986	0.847	P	0.45474	0.482	T	0.53947	-0.8366	10	0.56958	D	0.05	.	6.6099	0.22745	0.1511:0.0:0.1567:0.6923	.	112	Q8NH51	OR8K3_HUMAN	R	112	ENSP00000323555:L112R	ENSP00000323555:L112R	L	+	2	0	OR8K3	55842693	0.000000	0.05858	0.056000	0.19401	0.009000	0.06853	-0.009000	0.12765	2.036000	0.60181	0.467000	0.42956	CTT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
OR8K1	390157	broad.mit.edu	37	11	56113896	56113896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56113896C>T	ENST00000279783.2	+	1	476	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R128C(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGCCTATGATCGCTACGTAGC	0.403										HNSCC(65;0.19)																											p.R128C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382T	11						.						208.0	206.0	207.0					11																	56113896		2201	4296	6497	55870472	SO:0001583	missense	390157	exon1			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.382C>T	11.37:g.56113896C>T	ENSP00000279783:p.Arg128Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55870472	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564511	0.45694	.	.	ENSG00000150261	ENST00000279783	T	0.77358	-1.09	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.124327	0.36932	N	0.002325	T	0.70859	0.3272	M	0.73372	2.23	0.46078	D	0.998853	D	0.53151	0.958	B	0.34138	0.176	T	0.76997	-0.2751	10	0.72032	D	0.01	-10.9988	10.549	0.45077	0.148:0.709:0.143:0.0	.	128	Q8NGG5	OR8K1_HUMAN	C	128	ENSP00000279783:R128C	ENSP00000279783:R128C	R	+	1	0	OR8K1	55870472	0.787000	0.28750	0.965000	0.40720	0.982000	0.71751	1.165000	0.31822	2.297000	0.77311	0.549000	0.68633	CGC		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR8J1	219477	broad.mit.edu	37	11	56128270	56128270	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56128270C>T	ENST00000303039.3	+	1	580	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATAATGTTCCTCTGTTAGCA	0.333																																					p.P183L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548T	11						.						147.0	133.0	137.0					11																	56128270		2201	4296	6497	55884846	SO:0001583	missense	219477	exon1			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.548C>T	11.37:g.56128270C>T	ENSP00000304060:p.Pro183Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55884846	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876699	0.51801	.	.	ENSG00000172487	ENST00000303039	T	0.00224	8.51	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.092911	0.48286	D	0.000195	T	0.00637	0.0021	M	0.89658	3.05	0.22457	N	0.999086	D	0.71674	0.998	D	0.76071	0.987	T	0.24119	-1.0169	10	0.87932	D	0	.	10.8421	0.46722	0.0:0.904:0.0:0.096	.	183	Q8NGP2	OR8J1_HUMAN	L	183	ENSP00000304060:P183L	ENSP00000304060:P183L	P	+	2	0	OR8J1	55884846	0.008000	0.16893	0.965000	0.40720	0.693000	0.40251	2.020000	0.41010	2.185000	0.69588	0.549000	0.68633	CCT		0.333	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205	
OR8U1	219417	broad.mit.edu	37	11	56144033	56144033	+	IGR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56144033T>G	ENST00000302270.1	+	0	930					NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AAACTAGAGTTTTGTGTTTAT	0.323																																					.												.	.	0			.	11						.						51.0	53.0	53.0					11																	56144033		1813	4068	5881	55900609	SO:0001628	intergenic_variant	0	.			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860		11.37:g.56144033T>G		Somatic		Capture	Illumina HiSeq	Phase_I	55900609	.		IGR	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				0.323	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
OR9G4	283189	broad.mit.edu	37	11	56510789	56510789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56510789C>A	ENST00000302957.3	-	1	498	c.499G>T	c.(499-501)Gga>Tga	p.G167*		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G167*(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCAAAAATCCTCCTATGTAG	0.458																																					p.G167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G499T	11						.						82.0	85.0	84.0					11																	56510789		2201	4296	6497	56267365	SO:0001587	stop_gained	283189	exon1			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.499G>T	11.37:g.56510789C>A	ENSP00000307515:p.Gly167*	Somatic		Capture	Illumina HiSeq	Phase_I	56267365	NM_001005284	Q6IF62|Q96RA9	Nonsense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887821	0.33348	.	.	ENSG00000172457	ENST00000302957	.	.	.	5.07	5.07	0.68467	.	0.000000	0.39274	N	0.001414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.0491	15.3233	0.74139	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000307515:G167X	G	-	1	0	OR9G4	56267365	0.000000	0.05858	0.439000	0.26833	0.235000	0.25334	1.080000	0.30779	2.636000	0.89361	0.643000	0.83706	GGA		0.458	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
OR5AK2	390181	broad.mit.edu	37	11	56756801	56756801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56756801G>A	ENST00000326855.2	+	1	455	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R138Q(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATCATGTCCCGAACAGTCTGC	0.453																																					p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	11						.						182.0	153.0	163.0					11																	56756801		2201	4296	6497	56513377	SO:0001583	missense	390181	exon1			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.413G>A	11.37:g.56756801G>A	ENSP00000322784:p.Arg138Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56513377	NM_001005323	B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.750736	0.00086	.	.	ENSG00000181273	ENST00000326855	T	0.24350	1.86	3.85	-6.82	0.01698	GPCR, rhodopsin-like superfamily (1);	1.000500	0.08070	N	0.999611	T	0.11196	0.0273	N	0.13299	0.325	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.41413	-0.9510	10	0.09338	T	0.73	0.9287	10.6576	0.45684	0.7004:0.1063:0.1933:0.0	.	138	Q8NH90	O5AK2_HUMAN	Q	138	ENSP00000322784:R138Q	ENSP00000322784:R138Q	R	+	2	0	OR5AK2	56513377	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-5.185000	0.00143	-1.945000	0.01036	-1.050000	0.02344	CGA		0.453	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323	
OR5AK2	390181	broad.mit.edu	37	11	56757113	56757113	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:56757113C>A	ENST00000326855.2	+	1	767	c.725C>A	c.(724-726)gCt>gAt	p.A242D		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A242D(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCAACATGTGCTTCCCACCTG	0.423																																					p.A242D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C725A	11						.						117.0	108.0	111.0					11																	56757113		2201	4296	6497	56513689	SO:0001583	missense	390181	exon1			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.725C>A	11.37:g.56757113C>A	ENSP00000322784:p.Ala242Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56513689	NM_001005323	B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600630	0.28534	.	.	ENSG00000181273	ENST00000326855	T	0.00375	7.71	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001113	T	0.01353	0.0044	H	0.96142	3.775	0.30293	N	0.790181	D	0.60575	0.988	D	0.65323	0.934	T	0.00878	-1.1530	10	0.87932	D	0	-13.3125	10.6251	0.45502	0.0:0.6821:0.3179:0.0	.	242	Q8NH90	O5AK2_HUMAN	D	242	ENSP00000322784:A242D	ENSP00000322784:A242D	A	+	2	0	OR5AK2	56513689	0.000000	0.05858	1.000000	0.80357	0.043000	0.13939	0.318000	0.19504	2.208000	0.71279	0.400000	0.26472	GCT		0.423	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323	
TNKS1BP1	85456	broad.mit.edu	37	11	57077627	57077627	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57077627C>T	ENST00000532437.1	-	5	2869	c.2558G>A	c.(2557-2559)gGc>gAc	p.G853D	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G853D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	853	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G853D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGAGTAAGTGCCCTGGGAATC	0.572																																					p.G853D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2558A	11						.						96.0	106.0	103.0					11																	57077627		2201	4296	6497	56834203	SO:0001583	missense	85456	exon6			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2558G>A	11.37:g.57077627C>T	ENSP00000437271:p.Gly853Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56834203	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046009	0.36085	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33654	1.4;1.4	4.9	0.534	0.17127	.	0.892365	0.09451	N	0.800406	T	0.27169	0.0666	L	0.45698	1.435	0.22835	N	0.998671	B	0.13594	0.008	B	0.13407	0.009	T	0.28235	-1.0050	10	0.25751	T	0.34	-6.665	4.8936	0.13738	0.0:0.571:0.1563:0.2727	.	853	Q9C0C2	TB182_HUMAN	D	853	ENSP00000350990:G853D;ENSP00000437271:G853D	ENSP00000350990:G853D	G	-	2	0	TNKS1BP1	56834203	0.000000	0.05858	0.986000	0.45419	0.957000	0.61999	-0.334000	0.07883	0.202000	0.20498	0.462000	0.41574	GGC		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
TNKS1BP1	85456	broad.mit.edu	37	11	57087974	57087974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57087974G>A	ENST00000532437.1	-	2	618	c.307C>T	c.(307-309)Cct>Tct	p.P103S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P103S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	103	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.P103S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAACCGCAGGCCTTGGTGCA	0.627																																					p.P103S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	11						.						30.0	36.0	34.0					11																	57087974		2199	4296	6495	56844550	SO:0001583	missense	85456	exon3			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.307C>T	11.37:g.57087974G>A	ENSP00000437271:p.Pro103Ser	Somatic		Capture	Illumina HiSeq	Phase_I	56844550	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684254	0.47991	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.68903	-0.36;-0.36	4.68	2.75	0.32379	.	0.226663	0.22701	N	0.056691	T	0.46600	0.1401	N	0.12182	0.205	0.24854	N	0.992388	B	0.30709	0.291	B	0.34180	0.177	T	0.38200	-0.9672	10	0.32370	T	0.25	-4.2324	9.5007	0.39015	0.1719:0.0:0.8281:0.0	.	103	Q9C0C2	TB182_HUMAN	S	103	ENSP00000350990:P103S;ENSP00000437271:P103S	ENSP00000350990:P103S	P	-	1	0	TNKS1BP1	56844550	0.019000	0.18553	0.888000	0.34837	0.536000	0.34869	0.786000	0.26844	1.175000	0.42826	0.563000	0.77884	CCT		0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
SSRP1	6749	broad.mit.edu	37	11	57099243	57099243	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57099243G>T	ENST00000278412.2	-	9	1388	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	374					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I374I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGACAAAGGAGATCTCATCGA	0.507																																					p.I374I	Colon(89;1000 1340 6884 23013 41819)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122A	11						.						128.0	125.0	126.0					11																	57099243		2201	4296	6497	56855819	SO:0001819	synonymous_variant	6749	exon9			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1122C>A	11.37:g.57099243G>T		Somatic		Capture	Illumina HiSeq	Phase_I	56855819	NM_003146	Q5BJG8	Silent	SNP	ENST00000278412.2	37	CCDS7952.1																																																																																				0.507	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	
PRG3	10394	broad.mit.edu	37	11	57146971	57146971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57146971G>A	ENST00000287143.2	-	3	480	c.371C>T	c.(370-372)gCt>gTt	p.A124V		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.A124V(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTGAGCTTCTGCAAA	0.498																																					p.A124V	Melanoma(154;1456 2519 19358 45229)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	11						.						137.0	143.0	141.0					11																	57146971		2201	4296	6497	56903547	SO:0001583	missense	10394	exon3			AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.371C>T	11.37:g.57146971G>A	ENSP00000287143:p.Ala124Val	Somatic		Capture	Illumina HiSeq	Phase_I	56903547	NM_006093	Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901143	0.52227	.	.	ENSG00000156575	ENST00000287143	T	0.74632	-0.86	5.54	4.62	0.57501	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.218004	0.32328	N	0.006252	D	0.89649	0.6776	H	0.98594	4.275	0.39751	D	0.971897	D	0.76494	0.999	P	0.61592	0.891	D	0.92479	0.5991	10	0.87932	D	0	-10.4048	10.585	0.45278	0.0896:0.0:0.9104:0.0	.	124	Q9Y2Y8	PRG3_HUMAN	V	124	ENSP00000287143:A124V	ENSP00000287143:A124V	A	-	2	0	PRG3	56903547	1.000000	0.71417	0.974000	0.42286	0.009000	0.06853	4.422000	0.59854	1.471000	0.48121	0.591000	0.81541	GCT		0.498	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093	
PRG2	5553	broad.mit.edu	37	11	57156720	57156720	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57156720C>A	ENST00000311862.5	-	3	202	c.129G>T	c.(127-129)gaG>gaT	p.E43D	PRG2_ENST00000525955.1_Missense_Mutation_p.E43D|PRG2_ENST00000533605.1_Missense_Mutation_p.E43D|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E148D	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	43					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.E43D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CCATCTCCTGCTCTGGTGTCT	0.567																																					p.E43D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	11						.						76.0	77.0	76.0					11																	57156720		2201	4296	6497	56913296	SO:0001583	missense	5553	exon3			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.129G>T	11.37:g.57156720C>A	ENSP00000312134:p.Glu43Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56913296	NM_002728	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426996	0.43122	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.33438	3.02;2.85;3.02;1.41	4.75	-4.23	0.03789	.	0.758594	0.11211	N	0.587716	T	0.20659	0.0497	L	0.50333	1.59	0.09310	N	1	P;P	0.43477	0.808;0.808	B;B	0.39706	0.307;0.307	T	0.08186	-1.0734	10	0.39692	T	0.17	-7.3343	3.835	0.08889	0.2789:0.35:0.0:0.3711	.	43;43	A6XMW0;P13727	.;PRG2_HUMAN	D	43;43;43;148	ENSP00000312134:E43D;ENSP00000433231:E43D;ENSP00000433016:E43D;ENSP00000431536:E148D	ENSP00000312134:E43D	E	-	3	2	RP11-872D17.8;PRG2	56913296	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.854000	0.04299	-0.898000	0.03906	-0.238000	0.12139	GAG		0.567	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
PRG2	5553	broad.mit.edu	37	11	57157418	57157418	+	5'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57157418C>T	ENST00000311862.5	-	0	73				PRG2_ENST00000525955.1_5'UTR|PRG2_ENST00000533605.1_5'UTR|RP11-872D17.8_ENST00000529411.1_Silent_p.K105K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)						defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GGAGTTTCATCTTGGCTTTAT	0.438																																					.												.	.	0			.	11						.						191.0	177.0	182.0					11																	57157418		2201	4296	6497	56913994	SO:0001623	5_prime_UTR_variant	5553	.			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.-1G>A	11.37:g.57157418C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56913994	.	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	5'UTR	SNP	ENST00000311862.5	37	CCDS7955.1																																																																																				0.438	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
SLC43A3	29015	broad.mit.edu	37	11	57191485	57191485	+	Missense_Mutation	SNP	C	C	T	rs375906198		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57191485C>T	ENST00000395123.2	-	5	635	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	SLC43A3_ENST00000352187.1_Missense_Mutation_p.A111T|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A111T|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A124T|SLC43A3_ENST00000529554.1_Missense_Mutation_p.A111T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	111					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A111T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGAGTGTGGCGGTGGTGTAG	0.522																																					p.A111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	11						.		THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	84.0	73.0	77.0		331,331,331	4.7	0.9	11		77	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	111/492,111/492,111/492	57191485	1,12993	2201	4296	6497	56948061	SO:0001583	missense	5553	exon5			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.331G>A	11.37:g.57191485C>T	ENSP00000378555:p.Ala111Thr	Somatic		Capture	Illumina HiSeq	Phase_I	56948061	NM_017611	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.520827	0.64747	0.0	1.16E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494	T;T;T;T;T;T;D;T;T;D;D	0.81821	1.95;1.95;1.95;1.95;0.27;1.95;-1.54;1.95;1.95;-1.54;-1.54	4.7	4.7	0.59300	Major facilitator superfamily domain, general substrate transporter (1);	0.205916	0.39985	N	0.001208	D	0.88477	0.6447	M	0.73598	2.24	0.39440	D	0.96723	D;P;D;D	0.76494	0.991;0.945;0.997;0.999	P;P;D;D	0.70487	0.65;0.76;0.95;0.969	D	0.90387	0.4392	10	0.66056	D	0.02	-26.1962	14.6011	0.68441	0.0:1.0:0.0:0.0	.	111;124;111;111	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	T	111;111;111;111;124;111;58;111;111;124;111	ENSP00000378555:A111T;ENSP00000378556:A111T;ENSP00000337561:A111T;ENSP00000436254:A111T;ENSP00000434515:A124T;ENSP00000435893:A111T;ENSP00000434293:A58T;ENSP00000436055:A111T;ENSP00000434913:A111T;ENSP00000435273:A124T;ENSP00000433974:A111T	ENSP00000337561:A111T	A	-	1	0	SLC43A3	56948061	1.000000	0.71417	0.862000	0.33874	0.029000	0.11900	6.049000	0.71053	2.176000	0.68965	0.651000	0.88453	GCC		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
SLC43A3	29015	broad.mit.edu	37	11	57193510	57193510	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57193510G>A	ENST00000395123.2	-	3	440	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	SLC43A3_ENST00000352187.1_Silent_p.L46L|SLC43A3_ENST00000395124.1_Silent_p.L46L|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.L46L|SLC43A3_ENST00000529554.1_Silent_p.L46L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L46L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GGTCCACACAGATCCTTAAAG	0.527																																					p.L46L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C136T	11						.						93.0	87.0	89.0					11																	57193510		2201	4296	6497	56950086	SO:0001819	synonymous_variant	29015	exon3			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.136C>T	11.37:g.57193510G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56950086	NM_017611	B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	CCDS7956.1																																																																																				0.527	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
TMX2	51075	broad.mit.edu	37	11	57506180	57506180	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57506180C>A	ENST00000278422.4	+	5	498	c.486C>A	c.(484-486)ttC>ttA	p.F162L	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.F124L	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	162	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.F162L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTGTGGAGTTCTTTGCCAATT	0.483																																					p.F124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C372A	11						.						208.0	188.0	195.0					11																	57506180		2201	4296	6497	57262756	SO:0001583	missense	51075	exon4			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.486C>A	11.37:g.57506180C>A	ENSP00000278422:p.Phe162Leu	Somatic		Capture	Illumina HiSeq	Phase_I	57262756	NM_001144012	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216114	0.39201	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.44482	0.92;0.92	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	U	0.000000	T	0.70859	0.3272	M	0.91818	3.245	0.80722	D	1	P;D	0.76494	0.827;0.999	P;D	0.77004	0.624;0.989	T	0.76814	-0.2820	10	0.66056	D	0.02	-16.9652	15.1152	0.72394	0.0:0.9309:0.0:0.0691	.	124;162	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	L	124;162	ENSP00000367562:F124L;ENSP00000278422:F162L	ENSP00000278422:F162L	F	+	3	2	TMX2	57262756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.724000	0.47285	2.824000	0.97209	0.655000	0.94253	TTC		0.483	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959	
CTNND1	1500	broad.mit.edu	37	11	57576003	57576003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57576003G>T	ENST00000399050.4	+	14	2769	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	CTNND1_ENST00000529526.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.E638*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.E745*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.E745*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.E739*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.E745*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.E739*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.E644*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.E638*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.E422*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.E638*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.E638*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.E638*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.E416*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.E739*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.E691*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.E739*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.E739*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.E739*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.E644*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.E422*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.E691*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.E745*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.E638*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.E416*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.E685*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.E416*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	745					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.E739*(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCGCAACAAAGAATTAATTGG	0.408																																					p.E638X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1912T	11						.						63.0	65.0	64.0					11																	57576003		1973	4161	6134	57332579	SO:0001587	stop_gained	1500	exon10			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2233G>T	11.37:g.57576003G>T	ENSP00000382004:p.Glu745*	Somatic		Capture	Illumina HiSeq	Phase_I	57332579	NM_001085469	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	42	9.508237	0.99190	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.44	5.44	0.79542	.	0.106321	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8221	18.8697	0.92308	0.0:0.0:1.0:0.0	.	.	.	.	X	739;745;745;745;739;685;638;745;739;739;638;638;739;638;416;685;685;691;739;422;644;416;416;685;422;691;685;638;644;638;685;745	.	ENSP00000351527:E739X	E	+	1	0	CTNND1	57332579	1.000000	0.71417	0.927000	0.36925	0.886000	0.51366	6.268000	0.72552	2.570000	0.86706	0.467000	0.42956	GAA		0.408	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
CTNND1	1500	broad.mit.edu	37	11	57576774	57576774	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57576774G>T	ENST00000399050.4	+	15	2807	c.2271G>T	c.(2269-2271)aaG>aaT	p.K757N	CTNND1_ENST00000529526.1_Missense_Mutation_p.K697N|CTNND1_ENST00000532245.1_Missense_Mutation_p.K650N|CTNND1_ENST00000526938.1_Missense_Mutation_p.K757N|CTNND1_ENST00000529919.1_Missense_Mutation_p.K757N|CTNND1_ENST00000358694.6_Missense_Mutation_p.K751N|CTNND1_ENST00000360682.6_Missense_Mutation_p.K757N|CTNND1_ENST00000361332.4_Missense_Mutation_p.K751N|CTNND1_ENST00000528232.1_Missense_Mutation_p.K656N|CTNND1_ENST00000532463.1_Missense_Mutation_p.K650N|CTNND1_ENST00000525902.1_Missense_Mutation_p.K434N|CTNND1_ENST00000532787.1_Missense_Mutation_p.K650N|CTNND1_ENST00000426142.2_Missense_Mutation_p.K650N|CTNND1_ENST00000529986.1_Missense_Mutation_p.K650N|CTNND1_ENST00000533667.1_Missense_Mutation_p.K428N|CTNND1_ENST00000428599.2_Missense_Mutation_p.K751N|CTNND1_ENST00000529873.1_Missense_Mutation_p.K697N|CTNND1_ENST00000530748.1_Missense_Mutation_p.K703N|CTNND1_ENST00000361391.6_Missense_Mutation_p.K751N|CTNND1_ENST00000361796.4_Missense_Mutation_p.K751N|CTNND1_ENST00000524630.1_Missense_Mutation_p.K751N|CTNND1_ENST00000415361.2_Missense_Mutation_p.K656N|CTNND1_ENST00000527467.1_Missense_Mutation_p.K434N|CTNND1_ENST00000532844.1_Missense_Mutation_p.K703N|CTNND1_ENST00000399039.4_Missense_Mutation_p.K757N|CTNND1_ENST00000534579.1_Missense_Mutation_p.K697N|CTNND1_ENST00000532649.1_Missense_Mutation_p.K697N|CTNND1_ENST00000530094.1_Missense_Mutation_p.K650N|CTNND1_ENST00000526772.1_Missense_Mutation_p.K428N|CTNND1_ENST00000526357.1_Missense_Mutation_p.K697N|CTNND1_ENST00000528621.1_Missense_Mutation_p.K697N|CTNND1_ENST00000531014.1_Missense_Mutation_p.K428N	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	757					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.K751N(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTTGGTAAAGAATCTGCCAG	0.403																																					p.K650N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1950T	11						.						102.0	100.0	101.0					11																	57576774		1877	4118	5995	57333350	SO:0001583	missense	1500	exon11			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2271G>T	11.37:g.57576774G>T	ENSP00000382004:p.Lys757Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57333350	NM_001085469	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620285	0.28801	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.56	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.195736	0.47093	N	0.000241	T	0.25005	0.0607	N	0.05078	-0.115	0.45139	D	0.998155	B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.0	T	0.03453	-1.1035	10	0.33940	T	0.23	-6.3566	9.737	0.40395	0.0743:0.3954:0.5303:0.0	.	757;751;757;650;697;697;751;757;757	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	N	751;757;757;757;751;697;650;757;751;751;650;650;751;650;428;697;697;703;751;434;656;428;428;697;434;703;697;650;656;650;697;757	ENSP00000436543:K751N;ENSP00000434808:K757N;ENSP00000381996:K757N;ENSP00000353902:K757N;ENSP00000354907:K751N;ENSP00000436323:K697N;ENSP00000409930:K650N;ENSP00000382004:K757N;ENSP00000354785:K751N;ENSP00000354823:K751N;ENSP00000432075:K650N;ENSP00000437156:K650N;ENSP00000351527:K751N;ENSP00000434949:K650N;ENSP00000437051:K428N;ENSP00000435379:K697N;ENSP00000432243:K697N;ENSP00000436744:K703N;ENSP00000413586:K751N;ENSP00000434900:K434N;ENSP00000435266:K656N;ENSP00000432623:K428N;ENSP00000433158:K428N;ENSP00000435494:K697N;ENSP00000434672:K434N;ENSP00000433276:K703N;ENSP00000433334:K697N;ENSP00000437327:K650N;ENSP00000403518:K656N;ENSP00000434017:K650N;ENSP00000435789:K697N;ENSP00000432041:K757N	ENSP00000351527:K751N	K	+	3	2	CTNND1	57333350	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.176000	0.16782	0.669000	0.31146	0.655000	0.94253	AAG		0.403	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
CTNND1	1500	broad.mit.edu	37	11	57582937	57582937	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57582937G>A	ENST00000399050.4	+	19	3309	c.2773G>A	c.(2773-2775)Gac>Aac	p.D925N	CTNND1_ENST00000529526.1_Missense_Mutation_p.D865N|CTNND1_ENST00000532245.1_Missense_Mutation_p.D818N|CTNND1_ENST00000526938.1_Missense_Mutation_p.D904N|CTNND1_ENST00000529919.1_Missense_Mutation_p.D925N|CTNND1_ENST00000358694.6_Missense_Mutation_p.D919N|CTNND1_ENST00000360682.6_Missense_Mutation_p.D904N|CTNND1_ENST00000361332.4_Missense_Mutation_p.D919N|CTNND1_ENST00000528232.1_Missense_Mutation_p.D824N|CTNND1_ENST00000532463.1_Missense_Mutation_p.D818N|CTNND1_ENST00000525902.1_Missense_Mutation_p.D602N|CTNND1_ENST00000532787.1_Missense_Mutation_p.D797N|CTNND1_ENST00000426142.2_Missense_Mutation_p.D818N|CTNND1_ENST00000529986.1_Missense_Mutation_p.D818N|CTNND1_ENST00000533667.1_Missense_Mutation_p.D575N|CTNND1_ENST00000428599.2_Missense_Mutation_p.D919N|CTNND1_ENST00000529873.1_Missense_Mutation_p.D844N|CTNND1_ENST00000530748.1_Missense_Mutation_p.D871N|CTNND1_ENST00000361391.6_Missense_Mutation_p.D898N|CTNND1_ENST00000361796.4_Missense_Mutation_p.D919N|CTNND1_ENST00000524630.1_Missense_Mutation_p.D919N|CTNND1_ENST00000415361.2_Missense_Mutation_p.D824N|CTNND1_ENST00000527467.1_Missense_Mutation_p.D602N|CTNND1_ENST00000532844.1_Missense_Mutation_p.D871N|CTNND1_ENST00000399039.4_Missense_Mutation_p.D925N|CTNND1_ENST00000534579.1_Missense_Mutation_p.D865N|CTNND1_ENST00000532649.1_Missense_Mutation_p.D865N|CTNND1_ENST00000530094.1_Missense_Mutation_p.D818N|CTNND1_ENST00000526772.1_Missense_Mutation_p.D596N|CTNND1_ENST00000526357.1_Missense_Mutation_p.D865N|CTNND1_ENST00000528621.1_Missense_Mutation_p.D865N|CTNND1_ENST00000531014.1_Missense_Mutation_p.D596N	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	925					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.D898N(2)|p.D925N(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGATCTAGGCGACATGGAGCC	0.393																																					p.D818N												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G2452A	11						.						68.0	70.0	69.0					11																	57582937		1862	4102	5964	57339513	SO:0001583	missense	1500	exon15			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2773G>A	11.37:g.57582937G>A	ENSP00000382004:p.Asp925Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57339513	NM_001085469	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.342802|4.342802	0.82022|0.82022	.|.	.|.	ENSG00000198561|ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938|ENST00000531007	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.78707|.	-0.34;-0.33;-0.33;-0.83;-0.34;-0.34;-0.25;-0.35;-0.81;-0.35;-0.25;-0.25;-0.34;-0.72;-1.2;-0.34;-0.34;-0.33;-0.34;-0.62;-0.25;-0.63;-0.6;-0.83;-0.59;-0.35;-0.35;-0.34;-0.34;-0.25;-0.34;-0.74|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.412070|.	0.26836|.	N|.	0.022242|.	T|T	0.58581|0.58581	0.2132|0.2132	L|L	0.29908|0.29908	0.895|0.895	0.39557|0.39557	D|D	0.969077|0.969077	B;P;B;B;B;B;B;B;B|.	0.34546|.	0.257;0.456;0.327;0.23;0.257;0.257;0.184;0.257;0.167|.	B;B;B;B;B;B;B;B;B|.	0.29663|.	0.037;0.082;0.037;0.037;0.037;0.037;0.105;0.037;0.016|.	T|T	0.52533|0.52533	-0.8563|-0.8563	10|5	0.87932|.	D|.	0|.	-8.4307|-8.4307	18.4365|18.4365	0.90648|0.90648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	925;919;925;818;845;865;919;904;925|.	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2|.	.;.;CTND1_HUMAN;.;.;.;.;.;.|.	N|Q	919;925;925;904;919;865;818;925;898;919;818;818;919;797;575;865;865;871;919;602;824;596;596;844;602;871;865;818;824;818;865;904|101	ENSP00000436543:D919N;ENSP00000434808:D925N;ENSP00000381996:D925N;ENSP00000353902:D904N;ENSP00000354907:D919N;ENSP00000436323:D865N;ENSP00000409930:D818N;ENSP00000382004:D925N;ENSP00000354785:D898N;ENSP00000354823:D919N;ENSP00000432075:D818N;ENSP00000437156:D818N;ENSP00000351527:D919N;ENSP00000434949:D797N;ENSP00000437051:D575N;ENSP00000435379:D865N;ENSP00000432243:D865N;ENSP00000436744:D871N;ENSP00000413586:D919N;ENSP00000434900:D602N;ENSP00000435266:D824N;ENSP00000432623:D596N;ENSP00000433158:D596N;ENSP00000435494:D844N;ENSP00000434672:D602N;ENSP00000433276:D871N;ENSP00000433334:D865N;ENSP00000437327:D818N;ENSP00000403518:D824N;ENSP00000434017:D818N;ENSP00000435789:D865N;ENSP00000432041:D904N|.	ENSP00000351527:D919N|.	D|R	+|+	1|2	0|0	CTNND1|CTNND1	57339513|57339513	1.000000|1.000000	0.71417|0.71417	0.701000|0.701000	0.30321|0.30321	0.991000|0.991000	0.79684|0.79684	4.447000|4.447000	0.60020|0.60020	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.393	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
CTNND1	1500	broad.mit.edu	37	11	57583068	57583068	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57583068C>T	ENST00000399050.4	+	19	3344				CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000360682.6_Intron|CTNND1_ENST00000361332.4_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000529873.1_Intron|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000361391.6_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532844.1_Intron|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000526357.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000531014.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGAAAGATCGCATCCTTTT	0.388																																					.												.	.	0			.	11						.						47.0	45.0	46.0					11																	57583068		874	1987	2861	57339644	SO:0001627	intron_variant	1500	.			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2808+96C>T	11.37:g.57583068C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57339644	.	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Intron	SNP	ENST00000399050.4	37	CCDS44604.1																																																																																				0.388	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
OR6Q1	219952	broad.mit.edu	37	11	57798705	57798705	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57798705A>C	ENST00000302622.3	+	1	304	c.281A>C	c.(280-282)aAg>aCg	p.K94T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K94T(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GATGGTGGCAAGAATATCTCT	0.463																																					p.K94T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281C	11						.						172.0	162.0	165.0					11																	57798705		2201	4296	6497	57555281	SO:0001583	missense	219952	exon1			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.281A>C	11.37:g.57798705A>C	ENSP00000307734:p.Lys94Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57555281	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915682	0.17907	.	.	ENSG00000172381	ENST00000302622	T	0.38401	1.14	4.76	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.183274	0.26234	N	0.025560	T	0.26593	0.0650	L	0.46741	1.465	0.09310	N	1	P	0.41643	0.758	B	0.37267	0.245	T	0.30149	-0.9988	10	0.72032	D	0.01	.	5.3588	0.16075	0.808:0.0:0.192:0.0	.	94	Q8NGQ2	OR6Q1_HUMAN	T	94	ENSP00000307734:K94T	ENSP00000307734:K94T	K	+	2	0	OR6Q1	57555281	0.000000	0.05858	0.266000	0.24541	0.253000	0.25986	1.108000	0.31123	1.801000	0.52704	0.519000	0.50382	AAG		0.463	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186	
OR9Q1	219956	broad.mit.edu	37	11	57885961	57885961	+	Intron	SNP	C	C	T	rs140492317	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57885961C>T	ENST00000335397.3	+	3	302					NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AAGAATTCCTCTTACTTAGAT	0.403																																					.												.	.	0			.	11						.						101.0	107.0	105.0					11																	57885961		2201	4296	6497	57642537	SO:0001627	intron_variant	219956	.			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.-14-60942C>T	11.37:g.57885961C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57642537	.	Q2TAN3|Q96RA7	Intron	SNP	ENST00000335397.3	37	CCDS31543.1																																																																																				0.403	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212	
OR9Q2	219957	broad.mit.edu	37	11	57958294	57958294	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57958294A>G	ENST00000311591.3	+	1	389	c.332A>G	c.(331-333)gAc>gGc	p.D111G		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D111G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCCTCCATCGACTGCTACCTT	0.587																																					p.D111G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	11						.						184.0	147.0	159.0					11																	57958294		2201	4296	6497	57714870	SO:0001583	missense	219957	exon1			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.332A>G	11.37:g.57958294A>G	ENSP00000308714:p.Asp111Gly	Somatic		Capture	Illumina HiSeq	Phase_I	57714870	NM_001005283		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549443	0.65311	.	.	ENSG00000186513	ENST00000311591	T	0.00463	7.25	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.00906	0.0030	M	0.75777	2.31	0.33919	D	0.640634	D	0.53745	0.962	P	0.50049	0.629	T	0.58381	-0.7646	10	0.87932	D	0	-23.1089	15.1454	0.72647	1.0:0.0:0.0:0.0	.	111	Q8NGE9	OR9Q2_HUMAN	G	111	ENSP00000308714:D111G	ENSP00000308714:D111G	D	+	2	0	OR9Q2	57714870	0.071000	0.21146	0.998000	0.56505	0.867000	0.49689	0.963000	0.29293	2.232000	0.73038	0.533000	0.62120	GAC		0.587	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283	
OR1S2	219958	broad.mit.edu	37	11	57970686	57970686	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:57970686G>T	ENST00000302592.6	-	1	967	c.968C>A	c.(967-969)tCt>tAt	p.S323Y		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S323Y(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TCAAAGGGAAGAAATTTTTCT	0.408																																					p.S323Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968A	11						.						127.0	129.0	129.0					11																	57970686		2201	4296	6497	57727262	SO:0001583	missense	219958	exon1			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.968C>A	11.37:g.57970686G>T	ENSP00000305469:p.Ser323Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57727262	NM_001004459	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	0.573	-0.840405	0.02692	.	.	ENSG00000197887	ENST00000302592	T	0.00526	6.8	4.65	-4.61	0.03380	.	1.815480	0.03137	N	0.166065	T	0.00300	0.0009	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43829	-0.9367	10	0.19590	T	0.45	.	2.5961	0.04855	0.449:0.1158:0.3178:0.1173	.	323	Q8NGQ3	OR1S2_HUMAN	Y	323	ENSP00000305469:S323Y	ENSP00000305469:S323Y	S	-	2	0	OR1S2	57727262	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.146000	0.16180	-0.758000	0.04690	0.655000	0.94253	TCT		0.408	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459	
OR5B17	219965	broad.mit.edu	37	11	58126055	58126055	+	Missense_Mutation	SNP	C	C	T	rs145972406	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58126055C>T	ENST00000357377.3	-	1	487	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R163H(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAAGAGAGGCGAAATGTATC	0.413													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		22305	0.0		0.0	False		,,,				2504	0.0				p.R163H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G488A	11						.	C	HIS/ARG	11,4391	824.9+/-416.5	0,11,2190	93.0	86.0	89.0		488	-1.4	0.0	11	dbSNP_134	89	0,8590		0,0,4295	yes	missense	OR5B17	NM_001005489.1	29	0,11,6485	TT,TC,CC		0.0,0.2499,0.0847	benign	163/315	58126055	11,12981	2201	4295	6496	57882631	SO:0001583	missense	219965	exon1			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.488G>A	11.37:g.58126055C>T	ENSP00000349945:p.Arg163His	Somatic		Capture	Illumina HiSeq	Phase_I	57882631	NM_001005489	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	3.831	-0.035758	0.07497	0.002499	0.0	ENSG00000197786	ENST00000357377	T	0.00169	8.63	3.27	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	0.992833	0.08154	U	0.989562	T	0.00109	0.0003	N	0.20881	0.62	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.05225	-1.0898	10	0.39692	T	0.17	-1.4148	4.7076	0.12856	0.0:0.3439:0.2574:0.3987	.	163	Q8NGF7	OR5BH_HUMAN	H	163	ENSP00000349945:R163H	ENSP00000349945:R163H	R	-	2	0	OR5B17	57882631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.980000	0.01492	-0.132000	0.11557	-1.455000	0.01032	CGC		0.413	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
OR5B3	441608	broad.mit.edu	37	11	58170758	58170758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58170758C>T	ENST00000309403.2	-	1	124	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G42E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACAATAATTCCCAGGTTTCC	0.403																																					p.G42E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125A	11						.						96.0	95.0	95.0					11																	58170758		2201	4295	6496	57927334	SO:0001583	missense	441608	exon1			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.125G>A	11.37:g.58170758C>T	ENSP00000308270:p.Gly42Glu	Somatic		Capture	Illumina HiSeq	Phase_I	57927334	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	9.456	1.091862	0.20471	.	.	ENSG00000172769	ENST00000309403	T	0.01076	5.37	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000573	T	0.06917	0.0176	M	0.88105	2.93	0.09310	N	1	D	0.62365	0.991	D	0.67725	0.953	T	0.02852	-1.1102	10	0.87932	D	0	-26.4301	9.7271	0.40339	0.315:0.6849:0.0:0.0	.	42	Q8NH48	OR5B3_HUMAN	E	42	ENSP00000308270:G42E	ENSP00000308270:G42E	G	-	2	0	OR5B3	57927334	0.000000	0.05858	0.355000	0.25773	0.096000	0.18686	-0.136000	0.10405	2.338000	0.79540	0.585000	0.79938	GGA		0.403	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
OR5B2	390190	broad.mit.edu	37	11	58190547	58190547	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58190547T>C	ENST00000302581.2	-	1	239	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N63S(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGAGACAGGTTACTGAGGAA	0.507																																					p.N63S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	11						.						103.0	95.0	98.0					11																	58190547		2201	4295	6496	57947123	SO:0001583	missense	390190	exon1			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.188A>G	11.37:g.58190547T>C	ENSP00000303076:p.Asn63Ser	Somatic		Capture	Illumina HiSeq	Phase_I	57947123	NM_001005566	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	T	6.697	0.497219	0.12762	.	.	ENSG00000172365	ENST00000302581	T	0.12774	2.65	3.8	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14787	0.0357	M	0.63208	1.945	0.22926	N	0.998559	P	0.39964	0.697	B	0.38921	0.285	T	0.11518	-1.0584	9	0.31617	T	0.26	-15.3415	8.3023	0.32021	0.0:0.0994:0.0:0.9006	.	63	Q96R09	OR5B2_HUMAN	S	63	ENSP00000303076:N63S	ENSP00000303076:N63S	N	-	2	0	OR5B2	57947123	0.410000	0.25376	0.965000	0.40720	0.020000	0.10135	2.501000	0.45389	0.626000	0.30322	-0.303000	0.09236	AAC		0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
CNTF	1270	broad.mit.edu	37	11	58391929	58391929	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58391929T>G	ENST00000361987.4	+	2	617	c.537T>G	c.(535-537)atT>atG	p.I179M	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	179					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.I179M(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTCGTTTCATTTCTTCTCATC	0.468																																					p.I179M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T537G	11						.						99.0	101.0	100.0					11																	58391929		2201	4295	6496	58148505	SO:0001583	missense	1270	exon2			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.537T>G	11.37:g.58391929T>G	ENSP00000355370:p.Ile179Met	Somatic		Capture	Illumina HiSeq	Phase_I	58148505	NM_000614	B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.531006	0.64972	.	.	ENSG00000242689	ENST00000361987	T	0.38887	1.11	5.63	0.0547	0.14311	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.39989	0.1099	M	0.67953	2.075	0.09310	N	0.999999	P	0.43542	0.81	B	0.44085	0.44	T	0.35748	-0.9776	9	0.72032	D	0.01	-4.4541	3.3851	0.07269	0.1881:0.3886:0.0:0.4233	.	179	P26441	CNTF_HUMAN	M	179	ENSP00000355370:I179M	ENSP00000447778:I179M	I	+	3	3	CNTF	58148505	0.087000	0.21565	0.802000	0.32245	0.966000	0.64601	-0.273000	0.08548	0.433000	0.26313	0.528000	0.53228	ATT		0.468	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614	
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58722338C>A	ENST00000317391.4	+	6	622	c.282C>A	c.(280-282)atC>atA	p.I94I	GLYATL1_ENST00000300079.5_Silent_p.I125I|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	94						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.I125I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393																																					p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375A	11						.						74.0	71.0	72.0					11																	58722338		2201	4295	6496	58478914	SO:0001819	synonymous_variant	92292	exon5			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.282C>A	11.37:g.58722338C>A		Somatic		Capture	Illumina HiSeq	Phase_I	58478914	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	CCDS55768.1																																																																																				0.393	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
GLYATL1	92292	broad.mit.edu	37	11	58723482	58723482	+	Missense_Mutation	SNP	G	G	T	rs147081205		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58723482G>T	ENST00000317391.4	+	8	1231	c.891G>T	c.(889-891)caG>caT	p.Q297H	GLYATL1_ENST00000300079.5_Missense_Mutation_p.Q328H|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	297						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.Q328H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GCTACCCACAGAATCTAGTTC	0.428																																					p.Q328H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G984T	11						.	G	HIS/GLN,HIS/GLN,HIS/GLN	1,4399		0,1,2199	53.0	54.0	54.0		891,891,984	0.6	0.0	11	dbSNP_134	54	0,8588		0,0,4294	no	missense,missense,missense	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	24,24,24	0,1,6493	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	297/303,297/303,328/334	58723482	1,12987	2200	4294	6494	58480058	SO:0001583	missense	92292	exon7			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.891G>T	11.37:g.58723482G>T	ENSP00000322223:p.Gln297His	Somatic		Capture	Illumina HiSeq	Phase_I	58480058	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	5.384	0.256113	0.10185	2.27E-4	0.0	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.18657	2.51;2.2	1.67	0.644	0.17776	.	1.499370	0.04960	U	0.461882	T	0.28896	0.0717	L	0.36672	1.1	0.09310	N	1	D;D	0.58268	0.982;0.969	P;P	0.56865	0.808;0.648	T	0.18178	-1.0345	10	0.54805	T	0.06	.	5.7208	0.17986	0.0:0.3437:0.6563:0.0	.	328;297	Q969I3-2;Q969I3	.;GLYL1_HUMAN	H	274;297;328	ENSP00000322223:Q297H;ENSP00000300079:Q328H	ENSP00000300079:Q328H	Q	+	3	2	GLYATL1	58480058	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.137000	0.15995	0.012000	0.14892	0.411000	0.27672	CAG		0.428	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
MPEG1	219972	broad.mit.edu	37	11	58979435	58979435	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58979435C>T	ENST00000361050.3	-	1	989	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	302	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.A302T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CGGTCGATGGCCACCAGGTGG	0.577																																					p.A302T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	11						.						23.0	22.0	22.0					11																	58979435		1852	4052	5904	58736011	SO:0001583	missense	219972	exon1			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.904G>A	11.37:g.58979435C>T	ENSP00000354335:p.Ala302Thr	Somatic		Capture	Illumina HiSeq	Phase_I	58736011	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329105	0.60743	.	.	ENSG00000197629	ENST00000361050	D	0.84800	-1.9	5.53	5.53	0.82687	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	M	0.83012	2.62	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.93305	0.6680	10	0.66056	D	0.02	-15.5792	16.3786	0.83431	0.0:1.0:0.0:0.0	.	302	Q2M385	MPEG1_HUMAN	T	302	ENSP00000354335:A302T	ENSP00000354335:A302T	A	-	1	0	MPEG1	58736011	1.000000	0.71417	0.998000	0.56505	0.151000	0.21798	5.274000	0.65569	2.616000	0.88540	0.655000	0.94253	GCC		0.577	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396	
MPEG1	219972	broad.mit.edu	37	11	58979893	58979893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:58979893C>T	ENST00000361050.3	-	1	531	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	149	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.R149Q(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TACCTGAACTCGGGTAGTTAT	0.438																																					p.R149Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	11						.						137.0	124.0	128.0					11																	58979893		1884	4105	5989	58736469	SO:0001583	missense	219972	exon1			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.446G>A	11.37:g.58979893C>T	ENSP00000354335:p.Arg149Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58736469	NM_001039396	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371474	0.42003	.	.	ENSG00000197629	ENST00000361050	D	0.83914	-1.78	4.94	3.03	0.35002	Membrane attack complex component/perforin (MACPF) domain (3);	0.061422	0.64402	N	0.000010	T	0.71710	0.3372	L	0.37630	1.12	0.35864	D	0.827683	P	0.44521	0.837	B	0.37888	0.26	T	0.73550	-0.3947	10	0.51188	T	0.08	-8.7845	8.2832	0.31913	0.0:0.8144:0.0:0.1856	.	149	Q2M385	MPEG1_HUMAN	Q	149	ENSP00000354335:R149Q	ENSP00000354335:R149Q	R	-	2	0	MPEG1	58736469	0.986000	0.35501	0.260000	0.24451	0.644000	0.38419	4.347000	0.59373	0.479000	0.27511	0.644000	0.83932	CGA		0.438	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396	
MS4A7	58475	broad.mit.edu	37	11	60160234	60160234	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60160234A>C	ENST00000300184.3	+	6	819	c.623A>C	c.(622-624)aAa>aCa	p.K208T	MS4A7_ENST00000534016.1_Missense_Mutation_p.K163T|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.K163T|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	208						integral component of membrane (GO:0016021)		p.K208T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTTGGTGGAAACAGCTCTAC	0.483																																					p.K208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A623C	11						.						287.0	235.0	253.0					11																	60160234		2203	4300	6503	59916810	SO:0001583	missense	58475	exon6			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.623A>C	11.37:g.60160234A>C	ENSP00000300184:p.Lys208Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59916810	NM_206939	A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203769	0.38905	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.29397	2.55;1.57;1.57;1.68;1.94	3.63	-0.0274	0.13927	.	1.058720	0.07405	U	0.891475	T	0.28830	0.0715	N	0.08118	0	0.51767	D	0.999937	D;D	0.76494	0.999;0.993	D;P	0.69479	0.964;0.796	T	0.40365	-0.9567	10	0.87932	D	0	-48.0471	3.2082	0.06674	0.5479:0.2159:0.2362:0.0	.	163;208	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	T	208;163;163;163;144	ENSP00000300184:K208T;ENSP00000350983:K163T;ENSP00000434637:K163T;ENSP00000433861:K163T;ENSP00000434819:K144T	ENSP00000300184:K208T	K	+	2	0	MS4A7	59916810	0.122000	0.22280	0.834000	0.33040	0.266000	0.26442	0.003000	0.13083	-0.018000	0.14079	0.383000	0.25322	AAA		0.483	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
MS4A14	84689	broad.mit.edu	37	11	60183451	60183451	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60183451C>A	ENST00000300187.6	+	5	1287	c.1010C>A	c.(1009-1011)tCt>tAt	p.S337Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.S320Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.S225Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.S370Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	337						integral component of membrane (GO:0016021)		p.S337Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACCATGCCATCTAAGTCTACA	0.443																																					p.S337Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010A	11						.						126.0	108.0	114.0					11																	60183451		2203	4300	6503	59940027	SO:0001583	missense	84689	exon5			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1010C>A	11.37:g.60183451C>A	ENSP00000300187:p.Ser337Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	59940027	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	7.844	0.722527	0.15439	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36157	1.3;2.51;1.27;2.85	3.5	-2.77	0.05877	.	19.188700	0.00166	N	0.000001	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.17433	0.018;0.008	T	0.11084	-1.0602	10	0.20046	T	0.44	-0.7302	6.871	0.24121	0.6576:0.242:0.0:0.1004	.	320;337	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	225;337;320;370	ENSP00000437222:S225Y;ENSP00000300187:S337Y;ENSP00000378453:S320Y;ENSP00000433761:S370Y	ENSP00000300187:S337Y	S	+	2	0	MS4A14	59940027	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.838000	0.04372	-0.553000	0.06158	0.650000	0.86243	TCT		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MS4A14	84689	broad.mit.edu	37	11	60183880	60183880	+	Missense_Mutation	SNP	G	G	T	rs140456628		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60183880G>T	ENST00000300187.6	+	5	1716	c.1439G>T	c.(1438-1440)aGa>aTa	p.R480I	MS4A14_ENST00000395005.2_Missense_Mutation_p.R463I|MS4A14_ENST00000531787.1_Missense_Mutation_p.R368I|MS4A14_ENST00000531783.1_Missense_Mutation_p.R513I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	480	Gln-rich.					integral component of membrane (GO:0016021)		p.R480I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTCCATAGAAGAAAATCCTCA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		22401	0.0		0.001	False		,,,				2504	0.0				p.R480I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1439T	11						.						77.0	79.0	78.0					11																	60183880		2203	4300	6503	59940456	SO:0001583	missense	84689	exon5			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1439G>T	11.37:g.60183880G>T	ENSP00000300187:p.Arg480Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59940456	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.05	2.420070	0.42918	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.33865	1.39;2.58;1.39;2.92	3.58	-6.78	0.01721	.	15.265500	0.00166	N	0.000000	T	0.41511	0.1162	L	0.43152	1.355	0.09310	N	1	D;D	0.60160	0.987;0.978	P;P	0.52481	0.7;0.504	T	0.56866	-0.7908	10	0.48119	T	0.1	-0.9069	12.5195	0.56050	0.8212:0.0:0.1788:0.0	.	463;480	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	368;480;463;513	ENSP00000437222:R368I;ENSP00000300187:R480I;ENSP00000378453:R463I;ENSP00000433761:R513I	ENSP00000300187:R480I	R	+	2	0	MS4A14	59940456	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.912000	0.04046	-1.663000	0.01481	-0.312000	0.09012	AGA		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MS4A5	64232	broad.mit.edu	37	11	60197185	60197185	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60197185T>G	ENST00000300190.2	+	1	124	c.38T>G	c.(37-39)gTa>gGa	p.V13G	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	13						integral component of membrane (GO:0016021)		p.V13G(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GTGTTTCTGGTATTTCCTCCA	0.418																																					p.V13G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38G	11						.						117.0	118.0	118.0					11																	60197185		2203	4300	6503	59953761	SO:0001583	missense	64232	exon1			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.38T>G	11.37:g.60197185T>G	ENSP00000300190:p.Val13Gly	Somatic		Capture	Illumina HiSeq	Phase_I	59953761	NM_023945	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410246	0.62399	.	.	ENSG00000166930	ENST00000300190	T	0.11712	2.75	4.66	4.66	0.58398	.	0.821863	0.10987	N	0.612028	T	0.18800	0.0451	L	0.32530	0.975	0.49051	D	0.99974	D	0.64830	0.994	P	0.58721	0.844	T	0.01105	-1.1450	10	0.54805	T	0.06	-10.4551	10.6649	0.45723	0.0:0.0:0.0:1.0	.	13	Q9H3V2	MS4A5_HUMAN	G	13	ENSP00000300190:V13G	ENSP00000300190:V13G	V	+	2	0	MS4A5	59953761	0.244000	0.23889	0.909000	0.35828	0.791000	0.44710	1.873000	0.39558	2.084000	0.62774	0.383000	0.25322	GTA		0.418	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		
MS4A5	64232	broad.mit.edu	37	11	60198382	60198382	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60198382C>A	ENST00000300190.2	+	2	353	c.267C>A	c.(265-267)ttC>ttA	p.F89L	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	89						integral component of membrane (GO:0016021)		p.F89L(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GATATCCATTCTGGGGCTCTG	0.368																																					p.F89L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C267A	11						.						119.0	118.0	118.0					11																	60198382		2203	4300	6503	59954958	SO:0001583	missense	64232	exon2			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.267C>A	11.37:g.60198382C>A	ENSP00000300190:p.Phe89Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59954958	NM_023945	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.879075|3.879075	0.72294|0.72294	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000300190;ENST00000528093|ENST00000528905	T|.	0.02812|.	4.15|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.428985|.	0.26286|.	N|.	0.025257|.	T|T	0.67392|0.67392	0.2888|0.2888	M|M	0.67397|0.67397	2.05|2.05	0.36882|0.36882	D|D	0.889478|0.889478	P|.	0.47253|.	0.892|.	P|.	0.54346|.	0.749|.	T|T	0.71576|0.71576	-0.4551|-0.4551	10|5	0.30854|.	T|.	0.27|.	-6.6916|-6.6916	13.5189|13.5189	0.61555|0.61555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89|.	Q9H3V2|.	MS4A5_HUMAN|.	L|M	89;21|63	ENSP00000300190:F89L|.	ENSP00000300190:F89L|.	F|L	+|+	3|1	2|2	MS4A5|MS4A5	59954958|59954958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	1.135000|1.135000	0.31454|0.31454	2.562000|2.562000	0.86427|0.86427	0.655000|0.655000	0.94253|0.94253	TTC|CTG		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		
MS4A5	64232	broad.mit.edu	37	11	60201251	60201251	+	Missense_Mutation	SNP	G	G	A	rs374217276		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60201251G>A	ENST00000300190.2	+	4	439	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	118						integral component of membrane (GO:0016021)		p.R118Q(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ATATTGAGCCGAATAATGAAT	0.393																																					p.R118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	11						.	G	GLN/ARG	0,4406		0,0,2203	126.0	125.0	125.0		353	-2.0	0.0	11		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	MS4A5	NM_023945.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	118/201	60201251	1,13005	2203	4300	6503	59957827	SO:0001583	missense	64232	exon4			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.353G>A	11.37:g.60201251G>A	ENSP00000300190:p.Arg118Gln	Somatic		Capture	Illumina HiSeq	Phase_I	59957827	NM_023945	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887181	0.17540	0.0	1.16E-4	ENSG00000166930	ENST00000300190	T	0.02280	4.36	4.08	-1.98	0.07480	.	0.456519	0.21080	N	0.080518	T	0.02119	0.0066	L	0.55481	1.735	0.09310	N	1	B	0.24576	0.106	B	0.15484	0.013	T	0.39251	-0.9623	10	0.62326	D	0.03	-0.5937	3.6265	0.08114	0.4628:0.0:0.3607:0.1766	.	118	Q9H3V2	MS4A5_HUMAN	Q	118	ENSP00000300190:R118Q	ENSP00000300190:R118Q	R	+	2	0	MS4A5	59957827	0.001000	0.12720	0.001000	0.08648	0.051000	0.14879	-0.345000	0.07770	-0.137000	0.11455	0.655000	0.94253	CGA		0.393	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		
MS4A1	931	broad.mit.edu	37	11	60234483	60234483	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60234483G>A	ENST00000534668.1	+	6	914	c.625G>A	c.(625-627)Gct>Act	p.A209T	MS4A1_ENST00000389939.2_Missense_Mutation_p.A209T|MS4A1_ENST00000345732.4_Missense_Mutation_p.A209T|MS4A1_ENST00000528313.1_Missense_Mutation_p.A42T|MS4A1_ENST00000532073.1_Missense_Mutation_p.A196T	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	209					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.A209T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	ACTTGTAATAGCTGGCATCGT	0.428																																					p.A209T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	11						.						156.0	136.0	143.0					11																	60234483		2203	4300	6503	59991059	SO:0001583	missense	931	exon6			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.625G>A	11.37:g.60234483G>A	ENSP00000433277:p.Ala209Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59991059	NM_021950	A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623035	0.46840	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.02345	4.33;4.46;4.33;4.33	5.3	4.37	0.52481	.	0.452872	0.24470	N	0.038260	T	0.08846	0.0219	M	0.63843	1.955	0.19775	N	0.999954	D;P;P	0.59357	0.985;0.939;0.939	P;P;P	0.56278	0.785;0.795;0.795	T	0.08146	-1.0736	10	0.42905	T	0.14	-23.0749	11.4745	0.50288	0.0:0.0:0.8199:0.1801	.	42;196;209	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	T	209;196;209;42;209	ENSP00000314620:A209T;ENSP00000433519:A196T;ENSP00000433277:A209T;ENSP00000374589:A209T	ENSP00000314620:A209T	A	+	1	0	MS4A1	59991059	0.927000	0.31430	0.192000	0.23308	0.059000	0.15707	2.913000	0.48790	1.341000	0.45600	0.655000	0.94253	GCT		0.428	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1		
MS4A12	54860	broad.mit.edu	37	11	60274557	60274557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60274557C>A	ENST00000016913.4	+	7	821	c.764C>A	c.(763-765)cCt>cAt	p.P255H	MS4A12_ENST00000537076.1_Missense_Mutation_p.P209H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	255						integral component of membrane (GO:0016021)		p.P255H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TCTTCAGCTCCTCCCAGATGC	0.388																																					p.P209H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C626A	11						.						127.0	125.0	125.0					11																	60274557		2203	4300	6503	60031133	SO:0001583	missense	54860	exon6			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.764C>A	11.37:g.60274557C>A	ENSP00000016913:p.Pro255His	Somatic		Capture	Illumina HiSeq	Phase_I	60031133	NM_001164470	F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079245	0.55753	.	.	ENSG00000071203	ENST00000537076;ENST00000016913	T;T	0.27256	1.68;3.08	3.75	3.75	0.43078	.	9.355780	0.00424	N	0.000079	T	0.40171	0.1106	N	0.19112	0.55	0.24812	N	0.992633	D	0.89917	1.0	D	0.71656	0.974	T	0.50363	-0.8837	10	0.87932	D	0	-1.9368	11.4398	0.50090	0.0:1.0:0.0:0.0	.	255	Q9NXJ0	M4A12_HUMAN	H	209;255	ENSP00000440424:P209H;ENSP00000016913:P255H	ENSP00000016913:P255H	P	+	2	0	MS4A12	60031133	0.017000	0.18338	0.671000	0.29857	0.064000	0.16182	1.365000	0.34182	2.392000	0.81423	0.585000	0.79938	CCT		0.388	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1		
MS4A8	83661	broad.mit.edu	37	11	60468559	60468559	+	Intron	SNP	G	G	T	rs369148075		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60468559G>T	ENST00000300226.2	+	2	422					NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8							integral component of membrane (GO:0016021)		p.?(1)									GGGGGTAAGTGAGATTTCCCT	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						43.0	37.0	39.0					11																	60468559		2203	4300	6503	60225135	SO:0001627	intron_variant	83661	.			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.219+7G>T	11.37:g.60468559G>T		Somatic		Capture	Illumina HiSeq	Phase_I	60225135	.	Q8TCA5	Intron	SNP	ENST00000300226.2	37	CCDS7990.1																																																																																				0.537	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
MS4A10	341116	broad.mit.edu	37	11	60558465	60558465	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60558465G>A	ENST00000308287.1	+	3	298	c.202G>A	c.(202-204)Gct>Act	p.A68T		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	68						integral component of membrane (GO:0016021)		p.A68T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATCACCATCGCTCTGCTGCA	0.582																																					p.A68T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	11						.						140.0	136.0	137.0					11																	60558465		2203	4300	6503	60315041	SO:0001583	missense	341116	exon3			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.202G>A	11.37:g.60558465G>A	ENSP00000311862:p.Ala68Thr	Somatic		Capture	Illumina HiSeq	Phase_I	60315041	NM_206893	B2RP45|Q96PG3	Missense_Mutation	SNP	ENST00000308287.1	37	CCDS7992.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187275	0.57909	.	.	ENSG00000172689	ENST00000308287	T	0.03212	4.01	4.67	4.67	0.58626	.	0.000000	0.32655	N	0.005808	T	0.11281	0.0275	M	0.73217	2.22	0.09310	N	1	D	0.64830	0.994	P	0.53266	0.722	T	0.03034	-1.1080	10	0.72032	D	0.01	-4.0159	13.0564	0.58982	0.0:0.0:1.0:0.0	.	68	Q96PG2	M4A10_HUMAN	T	68	ENSP00000311862:A68T	ENSP00000311862:A68T	A	+	1	0	MS4A10	60315041	0.156000	0.22821	0.003000	0.11579	0.288000	0.27193	4.488000	0.60300	2.133000	0.65898	0.462000	0.41574	GCT		0.582	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893	
MS4A10	341116	broad.mit.edu	37	11	60559755	60559755	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60559755C>A	ENST00000308287.1	+	4	417	c.321C>A	c.(319-321)atC>atA	p.I107I		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	107						integral component of membrane (GO:0016021)		p.I107I(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TTTCAGGGATCTTGGCGATAA	0.458																																					p.I107I												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C321A	11						.						189.0	172.0	178.0					11																	60559755		2203	4300	6503	60316331	SO:0001819	synonymous_variant	341116	exon4			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.321C>A	11.37:g.60559755C>A		Somatic		Capture	Illumina HiSeq	Phase_I	60316331	NM_206893	B2RP45|Q96PG3	Silent	SNP	ENST00000308287.1	37	CCDS7992.1																																																																																				0.458	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893	
ZP1	22917	broad.mit.edu	37	11	60638567	60638567	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:60638567G>T	ENST00000278853.5	+	5	964	c.964G>T	c.(964-966)Gct>Tct	p.A322S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	322	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.A322S(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCACACGGAAGCTTTCGTGGT	0.597																																					p.A322S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964T	11						.						115.0	103.0	107.0					11																	60638567		2203	4299	6502	60395143	SO:0001583	missense	22917	exon5			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.964G>T	11.37:g.60638567G>T	ENSP00000278853:p.Ala322Ser	Somatic		Capture	Illumina HiSeq	Phase_I	60395143	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	5.553	0.286973	0.10513	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.82081	-1.57	4.95	1.78	0.24846	Zona pellucida sperm-binding protein (3);	0.220152	0.46442	N	0.000300	T	0.74359	0.3706	L	0.45137	1.4	0.09310	N	0.999998	B	0.23735	0.09	B	0.29267	0.1	T	0.60214	-0.7307	10	0.28530	T	0.3	-13.363	8.2823	0.31908	0.0872:0.0:0.594:0.3189	.	322	P60852	ZP1_HUMAN	S	322;29	ENSP00000278853:A322S	ENSP00000278853:A322S	A	+	1	0	ZP1	60395143	0.089000	0.21612	0.012000	0.15200	0.173000	0.22820	0.461000	0.21940	0.382000	0.24878	0.313000	0.20887	GCT		0.597	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
CYB561A3	220002	broad.mit.edu	37	11	61120500	61120500	+	Missense_Mutation	SNP	C	C	T	rs375115347		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:61120500C>T	ENST00000294072.4	-	5	1182	c.505G>A	c.(505-507)Gca>Aca	p.A169T	CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169T|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A186T|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169T|CYB561A3_ENST00000546151.1_3'UTR	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	169	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.A169T(1)									ATGACGGATGCGATGGACAGA	0.522																																					p.A186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	11						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	71.0	67.0	69.0		505,556,505	5.0	0.2	11		69	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CYBASC3	NM_001161452.1,NM_001161454.1,NM_153611.4	58,58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	169/243,186/260,169/243	61120500	1,13003	2203	4299	6502	60877076	SO:0001583	missense	220002	exon6			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.505G>A	11.37:g.61120500C>T	ENSP00000294072:p.Ala169Thr	Somatic		Capture	Illumina HiSeq	Phase_I	60877076	NM_001161454	B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049213	0.55110	0.0	1.16E-4	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.88	4.96	0.65561	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.303927	0.36740	N	0.002439	T	0.51753	0.1693	M	0.83223	2.63	0.31363	N	0.681109	B;B;B	0.26876	0.162;0.077;0.055	B;B;B	0.22753	0.041;0.014;0.024	T	0.60271	-0.7296	10	0.46703	T	0.11	-12.2098	13.784	0.63099	0.0:0.9282:0.0:0.0718	.	186;169;169	B4DLN9;F5H1Q2;Q8NBI2	.;.;CYAC3_HUMAN	T	186;169;169;169;81;169;169	ENSP00000398979:A186T;ENSP00000294072:A169T;ENSP00000389745:A169T;ENSP00000437390:A169T;ENSP00000441085:A81T;ENSP00000443321:A169T;ENSP00000438725:A169T	ENSP00000294072:A169T	A	-	1	0	CYBASC3	60877076	0.759000	0.28416	0.166000	0.22797	0.443000	0.32047	1.758000	0.38410	1.472000	0.48140	0.561000	0.74099	GCA		0.522	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611	
DAGLA	747	broad.mit.edu	37	11	61502317	61502317	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:61502317C>A	ENST00000257215.5	+	10	1090					NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha						arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCACCCCACCCTAGGTGTTGC	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						107.0	88.0	94.0					11																	61502317		2202	4299	6501	61258893	SO:0001627	intron_variant	747	.			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.975-4C>A	11.37:g.61502317C>A		Somatic		Capture	Illumina HiSeq	Phase_I	61258893	.	A7E233|Q6WQJ0	Intron	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
TMEM258	746	broad.mit.edu	37	11	61557967	61557967	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:61557967G>A	ENST00000537328.1	-	2	162	c.111C>T	c.(109-111)ttC>ttT	p.F37F	FADS2_ENST00000574708.1_5'Flank|FEN1_ENST00000305885.2_5'Flank|TMEM258_ENST00000543510.1_Silent_p.F32F|MIR611_ENST00000384869.1_RNA|TMEM258_ENST00000535042.1_5'UTR	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258	37						integral component of membrane (GO:0016021)		p.F37F(1)									AAGGATACACGAAGAACCAGG	0.542																																					p.F37F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	11						.						103.0	76.0	85.0					11																	61557967		2202	4299	6501	61314543	SO:0001819	synonymous_variant	746	exon2				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172	ENST00000537328.1:c.111C>T	11.37:g.61557967G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61314543	NM_014206	A8K6L8|Q9D953|Q9Y2Q7	Silent	SNP	ENST00000537328.1	37	CCDS8009.1																																																																																				0.542	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206	
TMEM258	746	broad.mit.edu	37	11	61562893	61562893	+	5'Flank	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:61562893G>T	ENST00000537328.1	-	0	0				FADS2_ENST00000574708.1_Intron|FEN1_ENST00000305885.2_Missense_Mutation_p.E20D|TMEM258_ENST00000543510.1_5'Flank|MIR611_ENST00000384869.1_RNA	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)		p.E20D(1)									CCATCCGGGAGAATGACATCA	0.512																																					p.E20D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G60T	11						.						74.0	66.0	69.0					11																	61562893		2202	4299	6501	61319469	SO:0001631	upstream_gene_variant	2237	exon2				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61562893G>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	61319469	NM_004111	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351260	0.61183	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.64085	-0.08;-0.08	5.44	4.52	0.55395	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.90977	3.165	0.80722	D	1	P	0.38978	0.652	P	0.56127	0.792	D	0.85853	0.1405	10	0.72032	D	0.01	-10.3816	16.5646	0.84575	0.0:0.1306:0.8694:0.0	.	20	P39748	FEN1_HUMAN	D	20	ENSP00000305480:E20D;ENSP00000445692:E20D	ENSP00000305480:E20D	E	+	3	2	FEN1	61319469	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.516000	0.53436	1.422000	0.47177	-0.305000	0.09177	GAG		0.512	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206	
AHNAK	79026	broad.mit.edu	37	11	62286994	62286994	+	Silent	SNP	G	G	A	rs537813230		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62286994G>A	ENST00000378024.4	-	5	15169	c.14895C>T	c.(14893-14895)atC>atT	p.I4965I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4965					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I4965I(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCCCTTCGATGTTAATAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19357	0.0		0.0	False		,,,				2504	0.001				p.I4965I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C14895T	11						.						91.0	89.0	90.0					11																	62286994		2202	4299	6501	62043570	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14895C>T	11.37:g.62286994G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62043570	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62289564	62289564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62289564C>A	ENST00000378024.4	-	5	12599	c.12325G>T	c.(12325-12327)Gaa>Taa	p.E4109*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4109					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E4109*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTTTCCCTTCTGGACCATGA	0.463																																					p.E4109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G12325T	11						.						106.0	114.0	111.0					11																	62289564		2202	4299	6501	62046140	SO:0001587	stop_gained	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12325G>T	11.37:g.62289564C>A	ENSP00000367263:p.Glu4109*	Somatic		Capture	Illumina HiSeq	Phase_I	62046140	NM_001620	A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	52	19.769186	0.99923	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.1	4.1	0.47936	.	0.523419	0.19667	N	0.108846	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	15.9305	0.79656	0.0:1.0:0.0:0.0	.	.	.	.	X	4109	.	ENSP00000367263:E4109X	E	-	1	0	AHNAK	62046140	0.996000	0.38824	0.267000	0.24556	0.010000	0.07245	4.329000	0.59260	1.839000	0.53478	0.393000	0.25936	GAA		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62290900	62290900	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62290900C>T	ENST00000378024.4	-	5	11263	c.10989G>A	c.(10987-10989)gaG>gaA	p.E3663E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3663					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E3663E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATGTTCATCTCAGGCATCT	0.473																																					p.E3663E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G10989A	11						.						229.0	234.0	233.0					11																	62290900		2202	4299	6501	62047476	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10989G>A	11.37:g.62290900C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62047476	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62291322	62291322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62291322C>T	ENST00000378024.4	-	5	10841	c.10567G>A	c.(10567-10569)Gag>Aag	p.E3523K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3523					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E3523K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGCCTCCCTCCGGACCTTCC	0.478																																					p.E3523K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10567A	11						.						106.0	113.0	111.0					11																	62291322		2202	4299	6501	62047898	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10567G>A	11.37:g.62291322C>T	ENSP00000367263:p.Glu3523Lys	Somatic		Capture	Illumina HiSeq	Phase_I	62047898	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	14.47	2.546466	0.45383	.	.	ENSG00000124942	ENST00000378024	T	0.01113	5.32	4.65	3.73	0.42828	.	0.328463	0.31177	N	0.008104	T	0.01387	0.0045	L	0.45051	1.395	0.39437	D	0.967173	P	0.46142	0.873	B	0.39119	0.291	T	0.72909	-0.4149	10	0.25751	T	0.34	.	12.285	0.54788	0.0:0.9159:0.0:0.0841	.	3523	Q09666	AHNK_HUMAN	K	3523	ENSP00000367263:E3523K	ENSP00000367263:E3523K	E	-	1	0	AHNAK	62047898	0.867000	0.29959	0.932000	0.37286	0.811000	0.45836	3.861000	0.56002	0.954000	0.37851	0.453000	0.30009	GAG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62295186	62295186	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62295186G>T	ENST00000378024.4	-	5	6977	c.6703C>A	c.(6703-6705)Cat>Aat	p.H2235N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2235					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.H2235N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCATGAACATCCACA	0.502																																					p.H2235N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6703A	11						.						309.0	307.0	308.0					11																	62295186		2202	4299	6501	62051762	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6703C>A	11.37:g.62295186G>T	ENSP00000367263:p.His2235Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62051762	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162322	0.21538	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05025	3.51	3.66	3.66	0.41972	.	1.066470	0.07511	U	0.908939	T	0.11324	0.0276	M	0.79926	2.475	0.19300	N	0.999979	P	0.42692	0.787	B	0.39258	0.295	T	0.26815	-1.0092	10	0.18710	T	0.47	.	10.1642	0.42871	0.0:0.3437:0.6562:0.0	.	2235	Q09666	AHNK_HUMAN	N	324;2235	ENSP00000367263:H2235N	ENSP00000244934:H324N	H	-	1	0	AHNAK	62051762	0.139000	0.22563	0.859000	0.33776	0.903000	0.53119	0.976000	0.29462	2.042000	0.60477	0.291000	0.19559	CAT		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62297260	62297260	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62297260T>A	ENST00000378024.4	-	5	4903	c.4629A>T	c.(4627-4629)ggA>ggT	p.G1543G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1543					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G1543G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACCTTGGGTCCTGAAACAC	0.493																																					p.G1543G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4629T	11						.						139.0	149.0	146.0					11																	62297260		2202	4299	6501	62053836	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4629A>T	11.37:g.62297260T>A		Somatic		Capture	Illumina HiSeq	Phase_I	62053836	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
ROM1	6094	broad.mit.edu	37	11	62381249	62381249	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62381249T>C	ENST00000278833.3	+	1	1037	c.496T>C	c.(496-498)Tac>Cac	p.Y166H	EML3_ENST00000278845.4_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	166					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)		p.Y166H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCAACTGAGGTACCACTGCTG	0.617																																					p.Y166H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T496C	11						.						92.0	99.0	96.0					11																	62381249		2202	4299	6501	62137825	SO:0001583	missense	6094	exon1			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.496T>C	11.37:g.62381249T>C	ENSP00000278833:p.Tyr166His	Somatic		Capture	Illumina HiSeq	Phase_I	62137825	NM_000327	B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	T	5.372	0.253914	0.10185	.	.	ENSG00000149489	ENST00000278833	T	0.79653	-1.29	4.74	0.615	0.17608	Tetraspanin, EC2 domain (1);	0.296958	0.36778	N	0.002414	T	0.50034	0.1592	N	0.01267	-0.92	0.25830	N	0.984185	B	0.02656	0.0	B	0.04013	0.001	T	0.48536	-0.9027	10	0.41790	T	0.15	-14.0879	7.4566	0.27270	0.0:0.4812:0.0:0.5188	.	166	Q03395	ROM1_HUMAN	H	166	ENSP00000278833:Y166H	ENSP00000278833:Y166H	Y	+	1	0	ROM1	62137825	0.998000	0.40836	0.998000	0.56505	0.130000	0.20726	0.569000	0.23638	0.208000	0.20626	0.260000	0.18958	TAC		0.617	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327	
GANAB	23193	broad.mit.edu	37	11	62397843	62397843	+	Intron	SNP	C	C	A	rs568504748		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62397843C>A	ENST00000356638.3	-	12	1530				GANAB_ENST00000346178.4_Intron|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AATTCTGGGTCTGCTTACCTG	0.572																																					.	Melanoma(23;1005 1074 15747 18937)											.	.	1	Unknown(1)	large_intestine(1)	.	11						.						41.0	39.0	40.0					11																	62397843		2202	4299	6501	62154419	SO:0001627	intron_variant	23193	.			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1513+7G>T	11.37:g.62397843C>A		Somatic		Capture	Illumina HiSeq	Phase_I	62154419	.	A6NC20|Q8WTS9|Q9P0X0	Intron	SNP	ENST00000356638.3	37	CCDS8026.1																																																																																				0.572	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
GNG3	2785	broad.mit.edu	37	11	62476260	62476260	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62476260C>A	ENST00000294117.5	+	3	469	c.210C>A	c.(208-210)ttC>ttA	p.F70L	BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000537604.1_5'Flank|BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000421906.1_5'Flank|BSCL2_ENST00000407022.3_5'Flank|BSCL2_ENST00000278893.7_5'Flank|BSCL2_ENST00000360796.5_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000403550.1_5'Flank	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	70					activation of MAPK activity (GO:0000187)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.F70L(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AGAAGAAGTTCTTCTGTGCTC	0.562																																					p.F70L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C210A	11						.						102.0	102.0	102.0					11																	62476260		2202	4299	6501	62232836	SO:0001583	missense	2785	exon3			AF075042	CCDS8032.1	11p11	2008-07-18				ENSG00000162188			4405	protein-coding gene	gene with protein product	"""guanine nucleotide-binding protein gamma-3 subunit"", ""NBP gamma-3"""	608941				10644457	Standard	NM_012202		Approved		uc001nuv.4	P63215		ENST00000294117.5:c.210C>A	11.37:g.62476260C>A	ENSP00000294117:p.Phe70Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62232836	NM_012202	B2R4S7|P29798|Q61014	Missense_Mutation	SNP	ENST00000294117.5	37	CCDS8032.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824986	0.32237	.	.	ENSG00000162188	ENST00000294117	T	0.21543	2.0	5.5	4.58	0.56647	G-protein gamma domain (3);	0.000000	0.85682	D	0.000000	T	0.09818	0.0241	.	.	.	0.58432	D	0.999993	B	0.18166	0.026	B	0.18561	0.022	T	0.09509	-1.0671	9	0.02654	T	1	-15.6131	12.0736	0.53630	0.0:0.9161:0.0:0.0839	.	70	P63215	GBG3_HUMAN	L	70	ENSP00000294117:F70L	ENSP00000294117:F70L	F	+	3	2	GNG3	62232836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.371000	0.44248	1.316000	0.45131	0.558000	0.71614	TTC		0.562	GNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395020.1	NM_012202	
HNRNPUL2	221092	broad.mit.edu	37	11	62490308	62490308	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:62490308A>G	ENST00000301785.5	-	5	1151	c.959T>C	c.(958-960)gTt>gCt	p.V320A	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.V320A	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	320	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V320A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGAAAAATCAACAGACCACCC	0.428																																					p.V320A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T959C	11						.						94.0	92.0	93.0					11																	62490308		1860	4115	5975	62246884	SO:0001583	missense	221092	exon5				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.959T>C	11.37:g.62490308A>G	ENSP00000301785:p.Val320Ala	Somatic		Capture	Illumina HiSeq	Phase_I	62246884	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843847	0.71488	.	.	ENSG00000214753	ENST00000301785	T	0.73469	-0.75	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.241177	0.35179	N	0.003387	T	0.72882	0.3516	L	0.27975	0.815	0.40184	D	0.977328	P	0.46621	0.881	P	0.53649	0.731	T	0.75662	-0.3240	10	0.51188	T	0.08	-4.3513	13.1682	0.59583	1.0:0.0:0.0:0.0	.	320	Q1KMD3	HNRL2_HUMAN	A	320	ENSP00000301785:V320A	ENSP00000301785:V320A	V	-	2	0	HNRNPUL2	62246884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.530000	0.60595	2.204000	0.70986	0.528000	0.53228	GTT		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
SLC22A10	387775	broad.mit.edu	37	11	63057884	63057884	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:63057884C>A	ENST00000332793.6	+	1	249	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.L31M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	83						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L83M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AGACTCAAATCTGAGGCCAGA	0.498																																					p.L83M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C247A	11						.						112.0	116.0	114.0					11																	63057884		2201	4298	6499	62814460	SO:0001583	missense	387775	exon1			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.247C>A	11.37:g.63057884C>A	ENSP00000327569:p.Leu83Met	Somatic		Capture	Illumina HiSeq	Phase_I	62814460	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	6.121	0.390520	0.11581	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66815	2.42;-0.23	2.89	-4.77	0.03219	.	0.682633	0.12893	N	0.430417	T	0.67287	0.2877	M	0.84219	2.685	0.09310	N	1	D;D	0.60160	0.976;0.987	P;P	0.54856	0.63;0.762	T	0.57573	-0.7788	10	0.33940	T	0.23	.	0.7115	0.00925	0.169:0.3156:0.1686:0.3468	.	31;83	E9PJB1;Q63ZE4	.;S22AA_HUMAN	M	83;31	ENSP00000327569:L83M;ENSP00000433908:L31M	ENSP00000327569:L83M	L	+	1	2	SLC22A10	62814460	0.000000	0.05858	0.009000	0.14445	0.314000	0.28054	-1.245000	0.02899	-0.658000	0.05366	-0.236000	0.12185	CTG		0.498	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
RASGRP2	10235	broad.mit.edu	37	11	64508449	64508449	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:64508449C>T	ENST00000354024.3	-	5	594	c.342G>A	c.(340-342)cgG>cgA	p.R114R	RASGRP2_ENST00000377487.1_Silent_p.R114R|RASGRP2_ENST00000394430.1_Silent_p.R114R|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394432.3_Silent_p.R114R|RASGRP2_ENST00000377489.1_Silent_p.R114R|RASGRP2_ENST00000377486.3_Silent_p.R114R|RASGRP2_ENST00000377497.3_Silent_p.R114R|RASGRP2_ENST00000377494.1_Silent_p.R114R	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	114	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R176R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTGCTGTGCCGTCGGTTCC	0.557											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R114R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G342A	11						.						76.0	60.0	66.0					11																	64508449		2201	4297	6498	64265025	SO:0001819	synonymous_variant	10235	exon5			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.342G>A	11.37:g.64508449C>T		Somatic	1077	Capture	Illumina HiSeq	Phase_I	64265025	NM_001098670	A6NDC7|O00538|Q9UL65	Silent	SNP	ENST00000354024.3	37	CCDS31598.1																																																																																				0.557	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
EHD1	10938	broad.mit.edu	37	11	64622341	64622341	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:64622341G>T	ENST00000320631.3	-	5	1335				EHD1_ENST00000488711.1_Intron|EHD1_ENST00000359393.2_Intron	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1						blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTGGGCGGGGGAGGAAGGAC	0.607																																					.												.	.	0			.	11						.						95.0	98.0	97.0					11																	64622341		2196	4290	6486	64378917	SO:0001627	intron_variant	10938	.			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1081-12C>A	11.37:g.64622341G>T		Somatic		Capture	Illumina HiSeq	Phase_I	64378917	.	O14611|Q2M3Q4|Q9UNR3	Intron	SNP	ENST00000320631.3	37	CCDS8084.1																																																																																				0.607	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	
NAALADL1	10004	broad.mit.edu	37	11	64824871	64824871	+	Missense_Mutation	SNP	C	C	T	rs141128956		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:64824871C>T	ENST00000358658.3	-	4	602	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	NAALADL1_ENST00000355369.2_Missense_Mutation_p.R192Q|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R192Q|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R192Q|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R192Q	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R192Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACCCCCATATCGAGTCAGGGC	0.612																																					p.R192Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575A	11						.	C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	158.0	114.0	129.0		575	2.6	1.0	11	dbSNP_134	129	0,8594		0,0,4297	no	missense	NAALADL1	NM_005468.2	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	192/741	64824871	1,12995	2201	4297	6498	64581447	SO:0001583	missense	10004	exon4			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.575G>A	11.37:g.64824871C>T	ENSP00000351484:p.Arg192Gln	Somatic		Capture	Illumina HiSeq	Phase_I	64581447	NM_005468	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596093	0.86953	2.27E-4	0.0	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000356632	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.66	2.63	0.31362	Protease-associated domain, PA (1);	0.052991	0.64402	D	0.000001	T	0.63896	0.2550	M	0.71920	2.185	0.48040	D	0.999576	D	0.76494	0.999	D	0.66196	0.942	T	0.66011	-0.6029	10	0.87932	D	0	-29.9753	6.777	0.23624	0.1794:0.7208:0.0:0.0997	.	192	Q9UQQ1	NALDL_HUMAN	Q	192	ENSP00000351484:R192Q;ENSP00000347530:R192Q;ENSP00000340111:R192Q;ENSP00000344244:R192Q;ENSP00000349045:R192Q	ENSP00000340111:R192Q	R	-	2	0	NAALADL1	64581447	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.427000	0.52785	2.306000	0.77630	0.561000	0.74099	CGA		0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
MRPL49	740	broad.mit.edu	37	11	64889126	64889126	+	5'Flank	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:64889126A>G	ENST00000279242.2	+	0	0				FAU_ENST00000529259.1_Intron|FAU_ENST00000525297.1_Intron|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000531743.1_Intron|FAU_ENST00000279259.3_Intron|FAU_ENST00000434372.2_Intron|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529639.1_Intron|FAU_ENST00000527548.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.?(1)		endometrium(1)|ovary(1)	2						CCTACAGGGAAAGATAAGGCT	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						61.0	53.0	56.0					11																	64889126		2201	4297	6498	64645702	SO:0001631	upstream_gene_variant	2197	.				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889126A>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	64645702	.	B2R4G6	Intron	SNP	ENST00000279242.2	37	CCDS8096.1																																																																																				0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
MALAT1	378938	broad.mit.edu	37	11	65266865	65266865	+	lincRNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65266865G>A	ENST00000534336.1	+	0	1633				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AATACCAATAGAAGGGCAATG	0.318																																					.												.	.	0			.	11						.						10.0	12.0	11.0					11																	65266865		868	1977	2845	65023441			378938	.			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266865G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65023441	.		RNA	SNP	ENST00000534336.1	37																																																																																					0.318	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819	
MALAT1	378938	broad.mit.edu	37	11	65270256	65270256	+	lincRNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65270256G>T	ENST00000534336.1	+	0	5024					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)									p.I11I(1)									ATAACCCTGAGATTCTTACTA	0.343																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	11						.						23.0	23.0	23.0					11																	65270256		874	1988	2862	65026832			378938	.			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270256G>T		Somatic		Capture	Illumina HiSeq	Phase_I	65026832	.		RNA	SNP	ENST00000534336.1	37																																																																																					0.343	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819	
MALAT1	378938	broad.mit.edu	37	11	65270791	65270791	+	lincRNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65270791G>T	ENST00000534336.1	+	0	5559					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCAGGATTGAGAAATTTTTCC	0.403																																					.												.	.	0			.	11						.						30.0	30.0	30.0					11																	65270791		874	1988	2862	65027367			378938	.			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270791G>T		Somatic		Capture	Illumina HiSeq	Phase_I	65027367	.		RNA	SNP	ENST00000534336.1	37																																																																																					0.403	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819	
MALAT1	378938	broad.mit.edu	37	11	65273286	65273286	+	lincRNA	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65273286A>C	ENST00000534336.1	+	0	8054					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAAACCAGTAAGTGGAGAAAT	0.383																																					.												.	.	0			.	11						.						112.0	107.0	108.0					11																	65273286		874	1988	2862	65029862			378938	.			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273286A>C		Somatic		Capture	Illumina HiSeq	Phase_I	65029862	.		RNA	SNP	ENST00000534336.1	37																																																																																					0.383	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819	
SNX32	254122	broad.mit.edu	37	11	65618622	65618622	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65618622G>A	ENST00000308342.6	+	7	1125	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	234					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.A234P(1)|p.A234T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CGTCATGCGCGCCCACAAGTG	0.622											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A234T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G700A	11						.						97.0	97.0	97.0					11																	65618622		2201	4297	6498	65375198	SO:0001583	missense	254122	exon7			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.700G>A	11.37:g.65618622G>A	ENSP00000310620:p.Ala234Thr	Somatic	1085	Capture	Illumina HiSeq	Phase_I	65375198	NM_152760	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608681	0.46527	.	.	ENSG00000172803	ENST00000308342	T	0.29397	1.57	5.23	-0.0124	0.13989	Vps5 C-terminal (1);	0.602886	0.15853	N	0.241382	T	0.12092	0.0294	N	0.11364	0.135	0.25864	N	0.983789	B	0.18166	0.026	B	0.19946	0.027	T	0.23655	-1.0182	10	0.20519	T	0.43	-10.8678	2.8892	0.05671	0.1319:0.0777:0.2836:0.5068	.	234	Q86XE0	SNX32_HUMAN	T	234	ENSP00000310620:A234T	ENSP00000310620:A234T	A	+	1	0	SNX32	65375198	0.998000	0.40836	0.103000	0.21229	0.863000	0.49368	1.492000	0.35594	-0.143000	0.11334	-0.266000	0.10368	GCC		0.622	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	
TSGA10IP	254187	broad.mit.edu	37	11	65713272	65713272	+	RNA	SNP	G	G	A	rs554596929		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65713272G>A	ENST00000532620.1	+	0	357				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGCTGCTGTCGACCGTCTCTC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17871	0.0		0.0	False		,,,				2504	0.001				p.S42S												.	.	0			c.G126A	11						.						57.0	62.0	61.0					11																	65713272		2086	4203	6289	65469848			254187	exon1			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65713272G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65469848	NM_152762	Q3SXZ9|Q3SY01|Q96M26	Silent	SNP	ENST00000532620.1	37																																																																																					0.642	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762	
TSGA10IP	254187	broad.mit.edu	37	11	65715118	65715118	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65715118G>T	ENST00000532620.1	+	0	1053				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GTCAGAGAAAGGGGCAGATTT	0.592																																					p.K274N												.	.	0			c.G822T	11						.						28.0	34.0	32.0					11																	65715118		2048	4182	6230	65471694			254187	exon3			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715118G>T		Somatic		Capture	Illumina HiSeq	Phase_I	65471694	NM_152762	Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.592	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762	
SF3B2	10992	broad.mit.edu	37	11	65826713	65826713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:65826713G>T	ENST00000322535.6	+	11	1273	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	SF3B2_ENST00000528302.1_Missense_Mutation_p.E391D	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	408					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.E408D(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGGAGCCAGAGAAACTTGACA	0.517																																					p.E408D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1224T	11						.						62.0	59.0	60.0					11																	65826713		2201	4295	6496	65583289	SO:0001583	missense	10992	exon11			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1224G>T	11.37:g.65826713G>T	ENSP00000318861:p.Glu408Asp	Somatic		Capture	Illumina HiSeq	Phase_I	65583289	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143975	0.57044	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.37850	1.14	0.58432	D	0.999998	P	0.40431	0.717	B	0.31946	0.138	T	0.17992	-1.0351	9	0.29301	T	0.29	-31.1398	9.5396	0.39244	0.0958:0.0:0.9042:0.0	.	408	Q13435	SF3B2_HUMAN	D	391;408;312	.	ENSP00000318861:E408D	E	+	3	2	SF3B2	65583289	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.891000	0.39738	2.345000	0.79718	0.555000	0.69702	GAG		0.517	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
KLC2	64837	broad.mit.edu	37	11	66031420	66031420	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:66031420G>T	ENST00000417856.1	+	7	1182	c.939G>T	c.(937-939)gaG>gaT	p.E313D	KLC2_ENST00000394065.2_Missense_Mutation_p.E174D|KLC2_ENST00000421552.1_Missense_Mutation_p.E236D|KLC2_ENST00000394067.2_Missense_Mutation_p.E313D|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Missense_Mutation_p.E236D|KLC2_ENST00000316924.5_Missense_Mutation_p.E313D|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	313					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.E313D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGATCCGGGAGAAGGTGGGAA	0.657																																					p.E313D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G939T	11						.						54.0	56.0	55.0					11																	66031420		2200	4295	6495	65787996	SO:0001583	missense	64837	exon7			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.939G>T	11.37:g.66031420G>T	ENSP00000399403:p.Glu313Asp	Somatic		Capture	Illumina HiSeq	Phase_I	65787996	NM_001134775	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996846	0.35226	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.09	-1.22	0.09494	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.155771	0.40818	N	0.001005	T	0.60958	0.2309	M	0.83852	2.665	0.46678	D	0.999151	P;P;B	0.43024	0.798;0.798;0.133	B;B;B	0.40782	0.34;0.188;0.131	T	0.62469	-0.6848	10	0.87932	D	0	-9.9698	9.5828	0.39499	0.6301:0.0:0.3699:0.0	.	174;236;313	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	D	313;313;313;236;236;174	ENSP00000399403:E313D;ENSP00000377631:E313D;ENSP00000314837:E313D;ENSP00000408484:E236D;ENSP00000377630:E236D;ENSP00000377629:E174D	ENSP00000314837:E313D	E	+	3	2	KLC2	65787996	0.991000	0.36638	0.986000	0.45419	0.545000	0.35147	0.237000	0.17985	-0.477000	0.06832	-0.266000	0.10368	GAG		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	
CCDC87	55231	broad.mit.edu	37	11	66359587	66359587	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:66359587C>T	ENST00000333861.3	-	1	967	c.900G>A	c.(898-900)tcG>tcA	p.S300S	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	300					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.S300S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCAGAAAGGCGAGGGGGAAG	0.617																																					p.S300S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	11						.						43.0	48.0	46.0					11																	66359587		2200	4295	6495	66116163	SO:0001819	synonymous_variant	55231	exon1			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.900G>A	11.37:g.66359587C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66116163	NM_018219	Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																				0.617	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
CCS	9973	broad.mit.edu	37	11	66372963	66372963	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:66372963T>C	ENST00000533244.1	+	7	1012	c.571T>C	c.(571-573)Tgg>Cgg	p.W191R	CCS_ENST00000310190.4_Missense_Mutation_p.W172R	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	191	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.W191R(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						CTCAAAGGTGTGGGATGTGAT	0.552																																					p.W191R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T571C	11						.						109.0	108.0	108.0					11																	66372963		2200	4295	6495	66129539	SO:0001583	missense	9973	exon7			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.571T>C	11.37:g.66372963T>C	ENSP00000436318:p.Trp191Arg	Somatic		Capture	Illumina HiSeq	Phase_I	66129539	NM_005125	Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101372	0.56183	.	.	ENSG00000173992	ENST00000533244;ENST00000310190;ENST00000534763	T;T;T	0.43294	0.95;0.95;0.95	5.84	5.84	0.93424	Superoxide dismutase, copper/zinc binding domain (3);	0.124765	0.64402	D	0.000016	T	0.36026	0.0952	L	0.33624	1.015	0.58432	D	0.999999	P	0.48503	0.911	B	0.43331	0.416	T	0.09292	-1.0681	10	0.33141	T	0.24	.	14.1684	0.65493	0.0:0.0:0.0:1.0	.	191	O14618	CCS_HUMAN	R	191;172;9	ENSP00000436318:W191R;ENSP00000307870:W172R;ENSP00000436379:W9R	ENSP00000307870:W172R	W	+	1	0	CCS	66129539	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.450000	0.60041	2.235000	0.73313	0.459000	0.35465	TGG		0.552	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125	
RBM4B	83759	broad.mit.edu	37	11	66436471	66436471	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:66436471G>A	ENST00000525754.1	-	2	1372	c.704C>T	c.(703-705)gCg>gTg	p.A235V	RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000310046.4_Missense_Mutation_p.A235V|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000529195.2_5'Flank|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	235	Interaction with TNPO3. {ECO:0000250}.|Poly-Ala.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A235V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGCCGCTGCCGCCGCTGCTAC	0.527																																					p.A235V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C704T	11						.						75.0	69.0	71.0					11																	66436471		2200	4295	6495	66193047	SO:0001583	missense	83759	exon3			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.704C>T	11.37:g.66436471G>A	ENSP00000433071:p.Ala235Val	Somatic		Capture	Illumina HiSeq	Phase_I	66193047	NM_031492	B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791205	0.50102	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.25749	1.78;1.78	5.92	5.92	0.95590	.	0.202508	0.35262	N	0.003327	T	0.14485	0.0350	N	0.22421	0.69	0.80722	D	1	P	0.48640	0.913	B	0.28011	0.085	T	0.12344	-1.0551	10	0.15499	T	0.54	-27.5019	19.1058	0.93294	0.0:0.0:1.0:0.0	.	235	Q9BQ04	RBM4B_HUMAN	V	235	ENSP00000433071:A235V;ENSP00000310471:A235V	ENSP00000310471:A235V	A	-	2	0	RBM4B	66193047	0.992000	0.36948	0.345000	0.25642	0.466000	0.32739	5.209000	0.65208	2.822000	0.97130	0.650000	0.86243	GCG		0.527	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492	
SPTBN2	6712	broad.mit.edu	37	11	66478202	66478202	+	Missense_Mutation	SNP	C	C	A	rs564046722	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:66478202C>A	ENST00000533211.1	-	10	1255	c.924G>T	c.(922-924)gaG>gaT	p.E308D	RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E308D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E308D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	308					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E308D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ACTCGTATTTCTCCACCAGGC	0.627																																					p.E308D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G924T	11						.						69.0	59.0	62.0					11																	66478202		2200	4295	6495	66234778	SO:0001583	missense	6712	exon9			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.924G>T	11.37:g.66478202C>A	ENSP00000432568:p.Glu308Asp	Somatic		Capture	Illumina HiSeq	Phase_I	66234778	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849557	0.71603	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.52295	0.67;0.67;0.67	5.0	3.14	0.36123	.	0.055265	0.64402	D	0.000001	T	0.55816	0.1944	L	0.45422	1.42	0.51482	D	0.99992	D	0.76494	0.999	D	0.74348	0.983	T	0.50092	-0.8868	10	0.36615	T	0.2	.	10.1988	0.43071	0.0:0.8356:0.0:0.1644	.	308	O15020	SPTN2_HUMAN	D	308	ENSP00000432568:E308D;ENSP00000311489:E308D;ENSP00000433593:E308D	ENSP00000311489:E308D	E	-	3	2	SPTBN2	66234778	0.915000	0.31059	1.000000	0.80357	0.837000	0.47467	0.086000	0.14935	0.705000	0.31890	0.563000	0.77884	GAG		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
CHKA	1119	broad.mit.edu	37	11	67837740	67837740	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:67837740C>A	ENST00000265689.4	-	6	811	c.785G>T	c.(784-786)aGa>aTa	p.R262I	CHKA_ENST00000356135.5_Missense_Mutation_p.R244I	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	262					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.R262I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AAATTTAATTCTCAGCACTTC	0.373																																					p.R244I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G731T	11						.						73.0	79.0	77.0					11																	67837740		2200	4294	6494	67594316	SO:0001583	missense	1119	exon5			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.785G>T	11.37:g.67837740C>A	ENSP00000265689:p.Arg262Ile	Somatic		Capture	Illumina HiSeq	Phase_I	67594316	NM_212469	Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332052	0.24167	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.59224	0.28;0.28;0.28	5.22	4.31	0.51392	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.106321	0.64402	D	0.000005	T	0.49626	0.1568	L	0.55103	1.725	0.80722	D	1	B;B	0.28400	0.21;0.066	B;B	0.25506	0.06;0.061	T	0.46925	-0.9156	10	0.39692	T	0.17	-14.098	9.8624	0.41123	0.0:0.844:0.0:0.156	.	244;262	P35790-2;P35790	.;CHKA_HUMAN	I	262;244;140	ENSP00000265689:R262I;ENSP00000348454:R244I;ENSP00000435032:R140I	ENSP00000265689:R262I	R	-	2	0	CHKA	67594316	0.142000	0.22610	0.898000	0.35279	0.285000	0.27093	0.241000	0.18065	1.186000	0.42985	0.561000	0.74099	AGA		0.373	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277	
SUV420H1	51111	broad.mit.edu	37	11	67926352	67926352	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:67926352A>C	ENST00000304363.4	-	11	1814	c.1461T>G	c.(1459-1461)aaT>aaG	p.N487K		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	487					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.N487K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAATGGGCAAATTTTTATACA	0.458																																					p.N487K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1461G	11						.						66.0	72.0	70.0					11																	67926352		2200	4294	6494	67682928	SO:0001583	missense	51111	exon11			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1461T>G	11.37:g.67926352A>C	ENSP00000305899:p.Asn487Lys	Somatic		Capture	Illumina HiSeq	Phase_I	67682928	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255745	0.22965	.	.	ENSG00000110066	ENST00000304363	T	0.48836	0.8	5.2	0.0838	0.14435	.	0.184343	0.48286	D	0.000197	T	0.26376	0.0644	L	0.27053	0.805	0.80722	D	1	P	0.42871	0.792	B	0.35182	0.197	T	0.03175	-1.1064	10	0.30078	T	0.28	-28.1764	8.791	0.34850	0.3802:0.0:0.6198:0.0	.	487	Q4FZB7	SV421_HUMAN	K	487	ENSP00000305899:N487K	ENSP00000305899:N487K	N	-	3	2	SUV420H1	67682928	0.561000	0.26578	0.848000	0.33437	0.011000	0.07611	0.074000	0.14662	0.091000	0.17302	-0.353000	0.07706	AAT		0.458	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
SUV420H1	51111	broad.mit.edu	37	11	67938550	67938550	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:67938550A>C	ENST00000304363.4	-	9	1262	c.909T>G	c.(907-909)atT>atG	p.I303M	SUV420H1_ENST00000405515.1_Missense_Mutation_p.I303M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.I303M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.I303M|SUV420H1_ENST00000402185.2_Missense_Mutation_p.I280M	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	303	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.I303M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATAACAAGAAATTTCTTCTC	0.368																																					p.I303M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T909G	11						.						83.0	84.0	83.0					11																	67938550		2199	4294	6493	67695126	SO:0001583	missense	51111	exon9			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.909T>G	11.37:g.67938550A>C	ENSP00000305899:p.Ile303Met	Somatic		Capture	Illumina HiSeq	Phase_I	67695126	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712364	0.68730	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.79	0.154	0.14901	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89319	0.6681	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.995;0.996;0.994;0.999	D	0.86003	0.1496	10	0.87932	D	0	-24.9053	3.9303	0.09281	0.534:0.0:0.2037:0.2623	.	280;303;303;303	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	M	303;303;303;303;280	ENSP00000305899:I303M;ENSP00000385965:I303M;ENSP00000385640:I303M;ENSP00000385005:I303M;ENSP00000384724:I280M	ENSP00000305899:I303M	I	-	3	3	SUV420H1	67695126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	0.448000	0.26722	0.533000	0.62120	ATT		0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
MRGPRD	116512	broad.mit.edu	37	11	68747543	68747543	+	Missense_Mutation	SNP	C	C	T	rs140472736		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:68747543C>T	ENST00000309106.3	-	1	912	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	305						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E305K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCCAGCTCGGGCTCCTCG	0.677																																					p.E305K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913A	11						.	C	LYS/GLU	0,4312		0,0,2156	26.0	33.0	31.0		913	1.6	0.0	11	dbSNP_134	31	1,8381		0,1,4190	no	missense	MRGPRD	NM_198923.2	56	0,1,6346	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	305/322	68747543	1,12693	2156	4191	6347	68504119	SO:0001583	missense	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.913G>A	11.37:g.68747543C>T	ENSP00000310631:p.Glu305Lys	Somatic		Capture	Illumina HiSeq	Phase_I	68504119	NM_198923	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252557	0.39797	0.0	1.19E-4	ENSG00000172938	ENST00000309106	T	0.04049	3.72	4.55	1.65	0.23941	.	0.595525	0.12573	U	0.457103	T	0.06280	0.0162	M	0.86178	2.8	0.09310	N	1	P	0.47106	0.89	B	0.33690	0.168	T	0.35375	-0.9791	10	0.31617	T	0.26	-20.3868	4.3382	0.11097	0.0:0.5451:0.167:0.2879	.	305	Q8TDS7	MRGRD_HUMAN	K	305	ENSP00000310631:E305K	ENSP00000310631:E305K	E	-	1	0	MRGPRD	68504119	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.054000	0.14205	0.057000	0.16193	0.467000	0.42956	GAG		0.677	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
TPCN2	219931	broad.mit.edu	37	11	68830441	68830441	+	Silent	SNP	G	G	A	rs558399980		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:68830441G>A	ENST00000294309.3	+	6	737	c.636G>A	c.(634-636)tcG>tcA	p.S212S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.S212S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	212					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.S212S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGCTGGTCGCTGCCGGAAA	0.642													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0				p.S212S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G636A	11						.						94.0	92.0	93.0					11																	68830441		2200	4294	6494	68587017	SO:0001819	synonymous_variant	219931	exon6			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.636G>A	11.37:g.68830441G>A		Somatic		Capture	Illumina HiSeq	Phase_I	68587017	NM_139075	Q9NT82	Silent	SNP	ENST00000294309.3	37	CCDS8189.1																																																																																				0.642	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
ANO1	55107	broad.mit.edu	37	11	70026156	70026156	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:70026156C>A	ENST00000355303.5	+	23	2702	c.2397C>A	c.(2395-2397)atC>atA	p.I799I	ANO1_ENST00000530676.1_Silent_p.I653I|ANO1_ENST00000398543.2_Silent_p.I653I|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Silent_p.I508I|ANO1_ENST00000538023.1_Silent_p.I799I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	799					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.I799I(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TTGCTGTCATCATCAATGTAA	0.527																																					p.I799I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2397A	11						.						128.0	121.0	124.0					11																	70026156		1919	4135	6054	69703804	SO:0001819	synonymous_variant	55107	exon23			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2397C>A	11.37:g.70026156C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69703804	NM_018043	A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	
PPFIA1	8500	broad.mit.edu	37	11	70172373	70172373	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:70172373G>T	ENST00000253925.7	+	6	827	c.612G>T	c.(610-612)atG>atT	p.M204I	PPFIA1_ENST00000389547.3_Missense_Mutation_p.M204I|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	204					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.M204I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCAGCTAATGATTCTTAAAG	0.313																																					p.M204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G612T	11						.						40.0	37.0	38.0					11																	70172373		2200	4294	6494	69850021	SO:0001583	missense	8500	exon6			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.612G>T	11.37:g.70172373G>T	ENSP00000253925:p.Met204Ile	Somatic		Capture	Illumina HiSeq	Phase_I	69850021	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019103	0.35606	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.33438	1.41;1.41	5.38	4.47	0.54385	.	0.188177	0.44902	U	0.000411	T	0.20536	0.0494	N	0.19112	0.55	0.38125	D	0.937979	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.06232	-1.0838	10	0.23891	T	0.37	.	14.0401	0.64669	0.073:0.0:0.927:0.0	.	204;204	Q13136;Q13136-2	LIPA1_HUMAN;.	I	204	ENSP00000253925:M204I;ENSP00000374198:M204I	ENSP00000253925:M204I	M	+	3	0	PPFIA1	69850021	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.602000	0.54066	1.267000	0.44247	0.563000	0.77884	ATG		0.313	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
DHCR7	1717	broad.mit.edu	37	11	71148915	71148915	+	Silent	SNP	G	G	A	rs80338858		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:71148915G>A	ENST00000355527.3	-	8	1182	c.906C>T	c.(904-906)ttC>ttT	p.F302F	DHCR7_ENST00000407721.2_Silent_p.F302F	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	302					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.F302F(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GGTACCACCCGAAGTGGTCAT	0.577									Smith-Lemli-Opitz syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19118	0.0		0.0	False		,,,				2504	0.0				p.F302F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	11	GRCh37	CM001131	DHCR7	M	rs80338858	.	G	,	8,4392	14.3+/-33.2	0,8,2192	98.0	91.0	94.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	906,906	-4.4	0.9	11	dbSNP_131	94	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	DHCR7	NM_001163817.1,NM_001360.2	,	0,8,6486	AA,AG,GG		0.0,0.1818,0.0616	,	302/476,302/476	71148915	8,12980	2200	4294	6494	70826563	SO:0001819	synonymous_variant	1717	exon8	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.906C>T	11.37:g.71148915G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70826563	NM_001163817	B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	CCDS8200.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.598	0.672128	0.14776	0.001818	0.0	ENSG00000172893	ENST00000534795	.	.	.	4.57	-4.41	0.03590	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53265	-0.8463	4	.	.	.	-16.8779	11.267	0.49116	0.7319:0.0:0.2681:0.0	.	.	.	.	W	88	.	.	R	-	1	2	DHCR7	70826563	0.594000	0.26849	0.907000	0.35723	0.625000	0.37756	-0.079000	0.11357	-1.321000	0.02281	-1.165000	0.01757	CGG		0.577	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360	
KRTAP5-11	440051	broad.mit.edu	37	11	71293419	71293419	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:71293419C>A	ENST00000398530.1	-	1	502	c.465G>T	c.(463-465)aaG>aaT	p.K155N	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	155						keratin filament (GO:0045095)		p.K155N(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCTCAGATCTTACACTGGC	0.547																																					p.K155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	11						.						79.0	85.0	83.0					11																	71293419		2200	4293	6493	70971067	SO:0001583	missense	440051	exon1			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.465G>T	11.37:g.71293419C>A	ENSP00000381541:p.Lys155Asn	Somatic		Capture	Illumina HiSeq	Phase_I	70971067	NM_001005405		Missense_Mutation	SNP	ENST00000398530.1	37	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	2.449	-0.326792	0.05350	.	.	ENSG00000204571	ENST00000398530	T	0.01076	5.37	1.88	0.937	0.19494	.	.	.	.	.	T	0.02455	0.0075	M	0.73598	2.24	0.09310	N	0.999999	P	0.52061	0.95	P	0.47981	0.563	T	0.42085	-0.9472	9	0.87932	D	0	.	4.782	0.13206	0.0:0.6594:0.0:0.3406	.	155	Q6L8G4	KR511_HUMAN	N	155	ENSP00000381541:K155N	ENSP00000381541:K155N	K	-	3	2	KRTAP5-11	70971067	0.987000	0.35691	0.757000	0.31301	0.053000	0.15095	0.417000	0.21214	0.288000	0.22398	-0.398000	0.06409	AAG		0.547	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405	
LRTOMT	220074	broad.mit.edu	37	11	71806131	71806131	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:71806131G>T	ENST00000289488.2	+	5	804	c.426G>T	c.(424-426)gaG>gaT	p.E142D	LRTOMT_ENST00000447974.1_Missense_Mutation_p.E142D|LRTOMT_ENST00000440313.2_Missense_Mutation_p.R8I|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E142D|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E142D|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000307198.7_Missense_Mutation_p.R8I|LRTOMT_ENST00000324866.7_Missense_Mutation_p.E142D|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E142D|LRTOMT_ENST00000539587.1_Missense_Mutation_p.R8I|LRTOMT_ENST00000419228.1_Missense_Mutation_p.R8I|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E124D|LRTOMT_ENST00000435085.1_Missense_Mutation_p.R8I|LRTOMT_ENST00000539271.1_Missense_Mutation_p.R8I|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E142D|LAMTOR1_ENST00000539797.1_5'Flank|LAMTOR1_ENST00000535107.1_Intron	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	142	LRRCT.					cytoplasm (GO:0005737)		p.E142D(1)		large_intestine(2)|lung(1)|ovary(1)	4						TGGAGGAAGAGAAAGGGTATA	0.557																																					p.R8I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23T	11						.						52.0	50.0	51.0					11																	71806131		2200	4293	6493	71483779	SO:0001583	missense	220074	exon5				CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.426G>T	11.37:g.71806131G>T	ENSP00000289488:p.Glu142Asp	Somatic		Capture	Illumina HiSeq	Phase_I	71483779	NM_001145309	B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	ENST00000289488.2	37	CCDS8208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.42|14.42	2.529222|2.529222	0.44969|0.44969	.|.	.|.	ENSG00000184154|ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917|ENST00000419228;ENST00000435085;ENST00000307198;ENST00000539271;ENST00000539587;ENST00000440313	T;T;T;T|T;T;T;T	0.54866|0.78481	0.55;0.55;0.55;1.53|-1.18;-0.73;-0.73;0.45	5.46|5.46	4.54|4.54	0.55810|0.55810	.|.	0.201515|.	0.44483|.	D|.	0.000452|.	T|T	0.65291|0.65291	0.2677|0.2677	N|N	0.22421|0.22421	0.69|0.69	0.39600|0.39600	D|D	0.969714|0.969714	B;B;B|B;B	0.33379|0.15930	0.049;0.41;0.151|0.003;0.015	B;B;B|B;B	0.26517|0.10450	0.021;0.07;0.039|0.002;0.005	T|T	0.64032|0.64032	-0.6502|-0.6502	10|9	0.26408|0.87932	T|D	0.33|0	-27.4457|-27.4457	10.6052|10.6052	0.45390|0.45390	0.0923:0.0:0.9077:0.0|0.0923:0.0:0.9077:0.0	.|.	124;142;142|8;8	Q96E66-6;Q96E66-2;Q96E66|Q8WZ04;Q8WZ04-2	.;.;LRC51_HUMAN|TOMT_HUMAN;.	D|I	142;142;124;142;142;142;142;142|8	ENSP00000289488:E142D;ENSP00000441249:E124D;ENSP00000444583:E142D;ENSP00000395139:E142D|ENSP00000392233:R8I;ENSP00000409789:R8I;ENSP00000305742:R8I;ENSP00000390485:R8I	ENSP00000289488:E142D|ENSP00000305742:R8I	E|R	+|+	3|2	2|0	LRTOMT|LRTOMT	71483779|71483779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.005000|1.005000	0.29834|0.29834	1.286000|1.286000	0.44565|0.44565	0.609000|0.609000	0.83330|0.83330	GAG|AGA		0.557	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309	
FCHSD2	9873	broad.mit.edu	37	11	72632940	72632940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:72632940C>T	ENST00000409418.4	-	9	1144	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	FCHSD2_ENST00000409314.1_Missense_Mutation_p.R254Q|FCHSD2_ENST00000409853.1_Missense_Mutation_p.R198Q|FCHSD2_ENST00000458644.2_Missense_Mutation_p.R94Q|FCHSD2_ENST00000311172.7_Missense_Mutation_p.R198Q	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	254								p.R254Q(1)|p.R198Q(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCTCAGTCCGGCTGAAGGC	0.368																																					p.R254Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G761A	11						.						69.0	60.0	63.0					11																	72632940		2200	4293	6493	72310588	SO:0001583	missense	9873	exon9			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.761G>A	11.37:g.72632940C>T	ENSP00000386722:p.Arg254Gln	Somatic		Capture	Illumina HiSeq	Phase_I	72310588	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921633	0.52653	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.87	4.01	0.46588	.	0.153304	0.56097	N	0.000035	T	0.08714	0.0216	N	0.20685	0.6	0.39750	D	0.97187	B;B;B	0.23891	0.001;0.071;0.093	B;B;B	0.18263	0.0;0.004;0.021	T	0.23762	-1.0179	10	0.21540	T	0.41	-17.297	11.5399	0.50661	0.0:0.8659:0.0:0.1341	.	94;254;198	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	Q	198;254;254;94;198	ENSP00000308978:R198Q;ENSP00000386987:R254Q;ENSP00000386722:R254Q;ENSP00000402972:R94Q;ENSP00000386314:R198Q	ENSP00000308978:R198Q	R	-	2	0	FCHSD2	72310588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.254000	0.51477	0.826000	0.34661	0.650000	0.86243	CGG		0.368	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
FCHSD2	9873	broad.mit.edu	37	11	72700021	72700021	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:72700021T>C	ENST00000409418.4	-	6	892	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FCHSD2_ENST00000409314.1_Missense_Mutation_p.D170G|FCHSD2_ENST00000409853.1_Missense_Mutation_p.D114G|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D10G|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D114G	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	170								p.D114G(1)|p.D170G(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TGCCTCGATGTCAGCTTTCTC	0.338																																					p.D170G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A509G	11						.						203.0	171.0	182.0					11																	72700021		2198	4291	6489	72377669	SO:0001583	missense	9873	exon6			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.509A>G	11.37:g.72700021T>C	ENSP00000386722:p.Asp170Gly	Somatic		Capture	Illumina HiSeq	Phase_I	72377669	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.08|19.08	3.757785|3.757785	0.69648|0.69648	.|.	.|.	ENSG00000137478|ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853|ENST00000543644	T;T;T;T;T|.	0.50277|.	2.37;2.43;2.41;2.04;0.75|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.055354|.	0.64402|.	D|.	0.000001|.	T|T	0.71178|0.71178	0.3309|0.3309	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.993;0.976;0.976|.	P;P;P|.	0.58620|.	0.842;0.629;0.675|.	T|T	0.70666|0.70666	-0.4809|-0.4809	10|5	0.48119|.	T|.	0.1|.	-6.588|-6.588	14.7885|14.7885	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	10;170;114|.	E7ENZ2;O94868;O94868-3|.	.;FCSD2_HUMAN;.|.	G|A	114;170;170;10;114|13	ENSP00000308978:D114G;ENSP00000386987:D170G;ENSP00000386722:D170G;ENSP00000402972:D10G;ENSP00000386314:D114G|.	ENSP00000308978:D114G|.	D|T	-|-	2|1	0|0	FCHSD2|FCHSD2	72377669|72377669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.673000|7.673000	0.83973|0.83973	2.093000|2.093000	0.63338|0.63338	0.379000|0.379000	0.24179|0.24179	GAC|ACA		0.338	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
C2CD3	26005	broad.mit.edu	37	11	73789407	73789407	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:73789407C>A	ENST00000334126.7	-	23	4582	c.4356G>T	c.(4354-4356)aaG>aaT	p.K1452N	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1452N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1452					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.K1452N(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTTAGGCTTCTTGAGAGGGG	0.438																																					p.K1452N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4356T	11						.						87.0	83.0	84.0					11																	73789407		2200	4293	6493	73467055	SO:0001583	missense	26005	exon23			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4356G>T	11.37:g.73789407C>A	ENSP00000334379:p.Lys1452Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73467055	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	16.62	3.173977	0.57692	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.87729	-2.29;-2.29;-2.29	5.35	3.21	0.36854	.	0.450966	0.26816	N	0.022355	T	0.79563	0.4467	L	0.44542	1.39	0.26419	N	0.976139	P	0.41848	0.763	B	0.38616	0.277	T	0.72690	-0.4217	10	0.45353	T	0.12	-5.5232	7.2826	0.26320	0.0:0.6869:0.1563:0.1568	.	1452	Q4AC94-1	.	N	1452;1452;1433;260	ENSP00000334379:K1452N;ENSP00000323339:K1452N;ENSP00000388750:K260N	ENSP00000323339:K1452N	K	-	3	2	C2CD3	73467055	0.199000	0.23386	1.000000	0.80357	0.679000	0.39708	0.654000	0.24918	2.502000	0.84385	0.650000	0.86243	AAG		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2CD3	26005	broad.mit.edu	37	11	73850717	73850717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:73850717C>T	ENST00000334126.7	-	4	866	c.640G>A	c.(640-642)Gac>Aac	p.D214N	C2CD3_ENST00000539061.1_Missense_Mutation_p.D214N|C2CD3_ENST00000313663.7_Missense_Mutation_p.D214N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	214					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.D214N(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTATGTATGTCGCGAGGCCTT	0.433																																					p.D214N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G640A	11						.						250.0	249.0	249.0					11																	73850717		2200	4293	6493	73528365	SO:0001583	missense	26005	exon4			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.640G>A	11.37:g.73850717C>T	ENSP00000334379:p.Asp214Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73528365	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	2.737	-0.263102	0.05754	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09350	2.99;2.99	5.51	0.191	0.15130	.	0.824942	0.10978	N	0.613023	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.303;0.371	B;B	0.21360	0.034;0.034	T	0.35375	-0.9791	10	0.35671	T	0.21	0.6158	8.507	0.33193	0.0:0.3475:0.0:0.6525	.	214;214	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	N	214	ENSP00000334379:D214N;ENSP00000323339:D214N	ENSP00000289350:D214N	D	-	1	0	C2CD3	73528365	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	-0.204000	0.10235	-0.312000	0.09012	GAC		0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
P4HA3	283208	broad.mit.edu	37	11	73988031	73988031	+	Splice_Site	SNP	G	G	A	rs150789452	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:73988031G>A	ENST00000331597.4	-	9	1379	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	P4HA3_ENST00000427714.2_Splice_Site_p.T445M	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	445	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.T445M(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CACCATTACCGTAGCATGGTC	0.527													G|||	9	0.00179712	0.0	0.0	5008	,	,		20599	0.0089		0.0	False		,,,				2504	0.0				p.T445M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1334T	11						.	G	MET/THR	0,4400		0,0,2200	87.0	65.0	72.0		1334	5.2	1.0	11	dbSNP_134	72	2,8584	2.2+/-6.3	0,2,4291	yes	missense-near-splice	P4HA3	NM_182904.3	81	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	445/545	73988031	2,12984	2200	4293	6493	73665679	SO:0001630	splice_region_variant	283208	exon9			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1335+1C>T	11.37:g.73988031G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73665679	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	20.9	4.060764	0.76074	0.0	2.33E-4	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.60040	0.92;0.22	5.2	5.2	0.72013	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.57536	1.79	0.80722	D	1	D;P	0.89917	1.0;0.951	D;P	0.91635	0.999;0.588	T	0.72727	-0.4206	10	0.87932	D	0	-15.9657	16.28	0.82672	0.0:0.0:1.0:0.0	.	445;445	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	M	445	ENSP00000332170:T445M;ENSP00000401749:T445M	ENSP00000332170:T445M	T	-	2	0	P4HA3	73665679	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.529000	0.73812	2.691000	0.91804	0.655000	0.94253	ACG		0.527	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	Missense_Mutation
PGM2L1	283209	broad.mit.edu	37	11	74049508	74049508	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:74049508C>A	ENST00000298198.4	-	13	2078					NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1						glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.?(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAAATCAATTCTTACCTCTGG	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						86.0	80.0	82.0					11																	74049508		2200	4293	6493	73727156	SO:0001627	intron_variant	283209	.			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1766+4G>T	11.37:g.74049508C>A		Somatic		Capture	Illumina HiSeq	Phase_I	73727156	.	Q96MQ7|Q9UIK3	Intron	SNP	ENST00000298198.4	37	CCDS8231.1																																																																																				0.353	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	
RNF169	254225	broad.mit.edu	37	11	74547217	74547217	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:74547217G>T	ENST00000299563.4	+	6	1582	c.1569G>T	c.(1567-1569)gaG>gaT	p.E523D		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	523					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.E523D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GTAGCACTGAGATCCCACTGG	0.488																																					p.E523D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1569T	11						.						105.0	105.0	105.0					11																	74547217		1882	4099	5981	74224865	SO:0001583	missense	254225	exon6			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1569G>T	11.37:g.74547217G>T	ENSP00000299563:p.Glu523Asp	Somatic		Capture	Illumina HiSeq	Phase_I	74224865	NM_001098638	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	6.987	0.552267	0.13374	.	.	ENSG00000166439	ENST00000299563	T	0.46819	0.86	5.59	3.71	0.42584	.	0.540943	0.18192	N	0.148786	T	0.39572	0.1083	M	0.63428	1.95	0.19945	N	0.999942	P	0.43788	0.817	B	0.33750	0.169	T	0.35822	-0.9773	10	0.45353	T	0.12	-7.1353	10.3533	0.43950	0.1631:0.0:0.8369:0.0	.	523	Q8NCN4	RN169_HUMAN	D	523	ENSP00000299563:E523D	ENSP00000299563:E523D	E	+	3	2	RNF169	74224865	0.884000	0.30299	0.042000	0.18584	0.554000	0.35429	1.788000	0.38714	1.363000	0.46019	0.655000	0.94253	GAG		0.488	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886	
OR2AT4	341152	broad.mit.edu	37	11	74800305	74800305	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:74800305T>G	ENST00000305159.3	-	1	494	c.454A>C	c.(454-456)Agt>Cgt	p.S152R		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S152R(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGCCAGGCACTGGCTGCCAAG	0.552																																					p.S152R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454C	11						.						103.0	98.0	99.0					11																	74800305		2200	4293	6493	74477953	SO:0001583	missense	341152	exon1			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.454A>C	11.37:g.74800305T>G	ENSP00000304846:p.Ser152Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74477953	NM_001005285	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758385	0.31137	.	.	ENSG00000171561	ENST00000305159	T	0.37915	1.17	5.26	0.236	0.15471	GPCR, rhodopsin-like superfamily (1);	0.210434	0.23654	U	0.045895	T	0.27205	0.0667	L	0.55990	1.75	0.28597	N	0.909355	B	0.17667	0.023	B	0.19946	0.027	T	0.14868	-1.0457	10	0.45353	T	0.12	.	3.8389	0.08906	0.1606:0.3389:0.0:0.5005	.	152	A6NND4	O2AT4_HUMAN	R	152	ENSP00000304846:S152R	ENSP00000304846:S152R	S	-	1	0	OR2AT4	74477953	0.000000	0.05858	0.998000	0.56505	0.788000	0.44548	0.384000	0.20668	0.063000	0.16370	0.528000	0.53228	AGT		0.552	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
SLCO2B1	11309	broad.mit.edu	37	11	74915588	74915588	+	Missense_Mutation	SNP	C	C	T	rs144746239		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:74915588C>T	ENST00000289575.5	+	14	2488	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S554L|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S676L|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S582L|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S471L|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S471L	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	698					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.S698L(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTGCTAGTGTCGGGGCCAGGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17957	0.0		0.001	False		,,,				2504	0.0				p.S554L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1661T	11						.						75.0	66.0	69.0					11																	74915588		2200	4293	6493	74593236	SO:0001583	missense	11309	exon11			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2093C>T	11.37:g.74915588C>T	ENSP00000289575:p.Ser698Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74593236	NM_001145212	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	CCDS8235.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.19	2.462272	0.43736	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.44482	1.09;1.09;1.22;0.92;1.09;1.09	5.6	3.08	0.35506	.	13.342800	0.00166	N	0.000000	T	0.26919	0.0659	N	0.08118	0	0.09310	N	1	B;B;B	0.15930	0.015;0.009;0.015	B;B;B	0.09377	0.003;0.004;0.003	T	0.15752	-1.0426	10	0.34782	T	0.22	.	7.4995	0.27509	0.0:0.7289:0.0:0.2711	.	554;471;698	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	L	698;471;582;554;471;676	ENSP00000289575:S698L;ENSP00000341286:S471L;ENSP00000434112:S582L;ENSP00000436324:S554L;ENSP00000389653:S471L;ENSP00000388912:S676L	ENSP00000289575:S698L	S	+	2	0	SLCO2B1	74593236	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.671000	0.25172	1.126000	0.42016	0.563000	0.77884	TCG		0.577	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
LRRC32	2615	broad.mit.edu	37	11	76371286	76371286	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:76371286C>A	ENST00000407242.2	-	3	1593	c.1351G>T	c.(1351-1353)Gtg>Ttg	p.V451L	LRRC32_ENST00000404995.1_Missense_Mutation_p.V451L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.V451L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	451					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.V451L(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCATTATCCACCAGGCTCAGG	0.657																																					p.V451L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351T	11						.						40.0	32.0	34.0					11																	76371286		2200	4292	6492	76048934	SO:0001583	missense	2615	exon3			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1351G>T	11.37:g.76371286C>A	ENSP00000384126:p.Val451Leu	Somatic		Capture	Illumina HiSeq	Phase_I	76048934	NM_001128922	Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898384	0.17686	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04275	3.66;3.66;3.66	4.23	4.23	0.50019	.	0.553031	0.19024	N	0.124749	T	0.03390	0.0098	N	0.17474	0.49	0.21147	N	0.999776	B	0.19817	0.039	B	0.16722	0.016	T	0.33214	-0.9877	10	0.54805	T	0.06	.	6.7318	0.23387	0.1777:0.7324:0.0:0.0899	.	451	Q14392	LRC32_HUMAN	L	451	ENSP00000260061:V451L;ENSP00000384126:V451L;ENSP00000385766:V451L	ENSP00000260061:V451L	V	-	1	0	LRRC32	76048934	0.828000	0.29307	0.939000	0.37840	0.822000	0.46500	1.782000	0.38654	2.216000	0.71823	0.485000	0.47835	GTG		0.657	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512	
CAPN5	726	broad.mit.edu	37	11	76825373	76825373	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:76825373G>A	ENST00000278559.3	+	5	781	c.592G>A	c.(592-594)Gac>Aac	p.D198N	CAPN5_ENST00000529629.1_Missense_Mutation_p.D198N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D238N|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	198	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D198N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TGAGCCCATCGACCTGACCGA	0.582											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D198N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592A	11						.						276.0	255.0	262.0					11																	76825373		2200	4292	6492	76503021	SO:0001583	missense	726	exon5				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.592G>A	11.37:g.76825373G>A	ENSP00000278559:p.Asp198Asn	Somatic	1171	Capture	Illumina HiSeq	Phase_I	76503021	NM_004055	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354718	0.61293	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88124	-2.34;-2.34;-2.34	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.048293	0.85682	D	0.000000	T	0.80839	0.4700	L	0.41492	1.28	0.80722	D	1	P;B;B;P	0.39060	0.657;0.083;0.178;0.657	B;B;B;B	0.30646	0.118;0.036;0.053;0.118	T	0.82008	-0.0670	10	0.40728	T	0.16	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	236;238;238;198	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	198;238;198;238;238	ENSP00000278559:D198N;ENSP00000432332:D198N;ENSP00000409996:D238N	ENSP00000278559:D198N	D	+	1	0	CAPN5	76503021	1.000000	0.71417	0.995000	0.50966	0.387000	0.30353	7.804000	0.85993	2.438000	0.82558	0.655000	0.94253	GAC		0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
MYO7A	4647	broad.mit.edu	37	11	76924995	76924995	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:76924995G>A	ENST00000409709.3	+	48	6801	c.6529G>A	c.(6529-6531)Ggg>Agg	p.G2177R	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Missense_Mutation_p.G2137R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G2128R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2177	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.G2177R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTGGTGCGCGGGAGCAAACT	0.617																																					p.G2177R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6529A	11						.						124.0	127.0	126.0					11																	76924995		2121	4238	6359	76602643	SO:0001583	missense	4647	exon48			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6529G>A	11.37:g.76924995G>A	ENSP00000386331:p.Gly2177Arg	Somatic		Capture	Illumina HiSeq	Phase_I	76602643	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066079	0.93898	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	FERM domain (1);Pleckstrin homology-type (1);	0.097195	0.64402	D	0.000001	D	0.89181	0.6642	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.90368	0.4378	10	0.87932	D	0	.	19.95	0.97195	0.0:0.0:1.0:0.0	.	2137;2177	F8VUN5;Q13402	.;MYO7A_HUMAN	R	2177;2137;2128;1350;2176;2146;2053;1319	ENSP00000386331:G2177R;ENSP00000392185:G2137R;ENSP00000386635:G2128R;ENSP00000417017:G1319R	ENSP00000345075:G2053R	G	+	1	0	MYO7A	76602643	1.000000	0.71417	0.966000	0.40874	0.788000	0.44548	7.608000	0.82898	2.716000	0.92895	0.650000	0.86243	GGG		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
GDPD4	220032	broad.mit.edu	37	11	76944068	76944068	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:76944068A>G	ENST00000376217.2	-	13	1640		c.e13+1		GDPD4_ENST00000315938.4_Splice_Site			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAACCAGCTCACCATGAAGAA	0.552																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						109.0	95.0	99.0					11																	76944068		2200	4292	6492	76621716	SO:0001630	splice_region_variant	220032	.			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1389+1T>C	11.37:g.76944068A>G		Somatic		Capture	Illumina HiSeq	Phase_I	76621716	.	Q7Z5B0	Splice_Site	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	A	23.9	4.468099	0.84533	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0652	0.64824	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GDPD4	76621716	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.847000	0.69451	2.304000	0.77564	0.528000	0.53228	.		0.552	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	Intron
GDPD4	220032	broad.mit.edu	37	11	76980067	76980067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:76980067G>T	ENST00000376217.2	-	8	776	c.526C>A	c.(526-528)Ctc>Atc	p.L176I	GDPD4_ENST00000315938.4_Missense_Mutation_p.L176I|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	176					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.L176I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATCAAATAGAGACCTAAAAGG	0.453																																					p.L176I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C526A	11						.						87.0	83.0	85.0					11																	76980067		2200	4292	6492	76657715	SO:0001583	missense	220032	exon8			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.526C>A	11.37:g.76980067G>T	ENSP00000365390:p.Leu176Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76657715	NM_182833	Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	G	2.860	-0.236369	0.05944	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.18338	2.22;2.23	5.07	0.69	0.18039	.	0.299727	0.31897	N	0.006881	T	0.12518	0.0304	L	0.46819	1.47	0.09310	N	1	B	0.24768	0.111	B	0.22753	0.041	T	0.17440	-1.0369	10	0.56958	D	0.05	-7.1869	4.7209	0.12917	0.0832:0.2564:0.5144:0.146	.	176	Q6W3E5-2	.	I	176	ENSP00000365390:L176I;ENSP00000320815:L176I	ENSP00000320815:L176I	L	-	1	0	GDPD4	76657715	1.000000	0.71417	0.002000	0.10522	0.051000	0.14879	1.549000	0.36212	0.308000	0.22923	-0.744000	0.03518	CTC		0.453	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
PAK1	5058	broad.mit.edu	37	11	77103471	77103471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:77103471C>T	ENST00000356341.3	-	2	626	c.95G>A	c.(94-96)gGa>gAa	p.G32E	PAK1_ENST00000278568.4_Missense_Mutation_p.G32E|PAK1_ENST00000530617.1_Missense_Mutation_p.G32E|PAK1_ENST00000528203.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	32					actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G32E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GTTTAGGGTTCCAGCATCTTT	0.458																																					p.G32E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95A	11						.						114.0	106.0	109.0					11																	77103471		2200	4292	6492	76781119	SO:0001583	missense	5058	exon2			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.95G>A	11.37:g.77103471C>T	ENSP00000348696:p.Gly32Glu	Somatic		Capture	Illumina HiSeq	Phase_I	76781119	NM_002576	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	5.723	0.317804	0.10845	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592;ENST00000528633	T;T;T	0.70516	-0.46;-0.49;-0.49	6.17	5.25	0.73442	.	0.273372	0.41294	D	0.000910	T	0.64316	0.2587	L	0.59436	1.845	0.80722	D	1	B;B;B	0.17667	0.002;0.023;0.005	B;B;B	0.20184	0.004;0.028;0.008	T	0.60515	-0.7248	10	0.02654	T	1	.	15.7701	0.78162	0.0:0.7427:0.2573:0.0	.	32;32;32	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	E	32	ENSP00000348696:G32E;ENSP00000433423:G32E;ENSP00000278568:G32E	ENSP00000278568:G32E	G	-	2	0	PAK1	76781119	0.902000	0.30710	1.000000	0.80357	0.990000	0.78478	1.896000	0.39789	1.587000	0.49959	0.655000	0.94253	GGA		0.458	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	
RSF1	51773	broad.mit.edu	37	11	77386195	77386195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:77386195G>A	ENST00000308488.6	-	14	3750	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R898*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R1119*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1150	Arg-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1150*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GAGGGGTGTCGCCTCAGTCTA	0.463																																					p.R1150X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3448T	11						.						125.0	119.0	121.0					11																	77386195		2200	4292	6492	77063843	SO:0001587	stop_gained	51773	exon14			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3448C>T	11.37:g.77386195G>A	ENSP00000311513:p.Arg1150*	Somatic		Capture	Illumina HiSeq	Phase_I	77063843	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	48	14.167982	0.99782	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	.	.	.	4.97	2.87	0.33458	.	0.000000	0.43747	D	0.000540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2872	12.6572	0.56793	0.0:0.0:0.5396:0.4604	.	.	.	.	X	1150;898;1119;259	.	ENSP00000311513:R1150X	R	-	1	2	RSF1	77063843	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.038000	0.30254	1.244000	0.43870	0.650000	0.86243	CGA		0.463	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
INTS4	92105	broad.mit.edu	37	11	77690030	77690030	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:77690030T>G	ENST00000534064.1	-	4	506				INTS4_ENST00000529807.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4						snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAATAGATTTTATACTCTTA	0.403																																					.												.	.	0			.	11						.						151.0	139.0	143.0					11																	77690030		2200	4292	6492	77367678	SO:0001627	intron_variant	92105	.			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.471+11A>C	11.37:g.77690030T>G		Somatic		Capture	Illumina HiSeq	Phase_I	77367678	.	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Intron	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.403	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	
ALG8	79053	broad.mit.edu	37	11	77812056	77812056	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:77812056A>C	ENST00000299626.5	-	13	1606	c.1535T>G	c.(1534-1536)gTt>gGt	p.V512G	ALG8_ENST00000532552.2_5'Flank|ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	512					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.V512G(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CAATACTGAAACATACAGTTT	0.393																																					p.V512G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1535G	11						.						141.0	132.0	135.0					11																	77812056		2200	4292	6492	77489704	SO:0001583	missense	79053	exon13			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1535T>G	11.37:g.77812056A>C	ENSP00000299626:p.Val512Gly	Somatic		Capture	Illumina HiSeq	Phase_I	77489704	NM_024079	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.66|14.66	2.602244|2.602244	0.46423|0.46423	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000530608|ENST00000299626;ENST00000526849	.|D;D	.|0.84298	.|-1.83;-1.83	4.95|4.95	2.59|2.59	0.31030|0.31030	.|.	.|0.352028	.|0.29987	.|N	.|0.010697	T|T	0.82093|0.82093	0.4962|0.4962	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|B;B	.|0.26147	.|0.143;0.044	.|B;B	.|0.30179	.|0.112;0.112	T|T	0.73094|0.73094	-0.4091|-0.4091	5|10	.|0.27785	.|T	.|0.31	-1.9417|-1.9417	7.1578|7.1578	0.25647|0.25647	0.7743:0.148:0.0777:0.0|0.7743:0.148:0.0777:0.0	.|.	.|512;512	.|B3KQL8;Q9BVK2	.|.;ALG8_HUMAN	V|G	214|512;183	.|ENSP00000299626:V512G;ENSP00000434388:V183G	.|ENSP00000299626:V512G	F|V	-|-	1|2	0|0	ALG8|ALG8	77489704|77489704	0.999000|0.999000	0.42202|0.42202	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	5.312000|5.312000	0.65792|0.65792	0.447000|0.447000	0.26695|0.26695	0.460000|0.460000	0.39030|0.39030	TTT|GTT		0.393	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
TENM4	26011	broad.mit.edu	37	11	78381549	78381549	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:78381549G>A	ENST00000278550.7	-	32	6303	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1947					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.F1947F(4)									CATTCTTGTCGAACTCAAAGA	0.532																																					p.F1947F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C5841T	11						.						71.0	74.0	73.0					11																	78381549		2006	4165	6171	78059197	SO:0001819	synonymous_variant	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5841C>T	11.37:g.78381549G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78059197	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
PRCP	5547	broad.mit.edu	37	11	82549607	82549607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82549607C>A	ENST00000313010.3	-	8	1290	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.E387*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.E261*|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	366					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.E366*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATGACTACTTCTGTGCAGGCC	0.383																																					p.E366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	11						.						92.0	82.0	85.0					11																	82549607		2203	4300	6503	82227255	SO:0001587	stop_gained	5547	exon8			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1096G>T	11.37:g.82549607C>A	ENSP00000317362:p.Glu366*	Somatic		Capture	Illumina HiSeq	Phase_I	82227255	NM_005040	A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749846	0.96890	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	.	.	.	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.7125	15.808	0.78531	0.0:0.9342:0.0:0.0658	.	.	.	.	X	366;387;261	.	.	E	-	1	0	PRCP	82227255	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.772000	0.68889	1.545000	0.49373	0.655000	0.94253	GAA		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	
PCF11	51585	broad.mit.edu	37	11	82875329	82875329	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82875329G>T	ENST00000298281.4	+	4	1040	c.588G>T	c.(586-588)aaG>aaT	p.K196N		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	196					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.K196N(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATATACAAAAGAATCTTACAC	0.428																																					p.K196N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G588T	11						.						61.0	55.0	57.0					11																	82875329		1862	4090	5952	82552977	SO:0001583	missense	51585	exon4			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.588G>T	11.37:g.82875329G>T	ENSP00000298281:p.Lys196Asn	Somatic		Capture	Illumina HiSeq	Phase_I	82552977	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221867	0.79464	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.47869	1.82;0.84;0.83	5.44	5.44	0.79542	.	0.294885	0.29100	N	0.013146	T	0.64864	0.2637	L	0.60455	1.87	0.45962	D	0.99878	D;D	0.76494	0.999;0.963	D;P	0.63488	0.915;0.527	T	0.61352	-0.7080	9	.	.	.	.	19.6345	0.95724	0.0:0.0:1.0:0.0	.	196;196	E9PQ01;O94913	.;PCF11_HUMAN	N	196	ENSP00000298281:K196N;ENSP00000434540:K196N;ENSP00000431567:K196N	.	K	+	3	2	PCF11	82552977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.122000	0.57910	2.714000	0.92807	0.655000	0.94253	AAG		0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
PCF11	51585	broad.mit.edu	37	11	82880721	82880721	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82880721G>T	ENST00000298281.4	+	8	3796	c.3344G>T	c.(3343-3345)aGa>aTa	p.R1115I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1115					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R1115I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CAAGGCACAAGATTTGACAAT	0.423																																					p.R1115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3344T	11						.						126.0	120.0	122.0					11																	82880721		1955	4147	6102	82558369	SO:0001583	missense	51585	exon8			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3344G>T	11.37:g.82880721G>T	ENSP00000298281:p.Arg1115Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82558369	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126149	0.77549	.	.	ENSG00000165494	ENST00000298281	T	0.26067	1.76	6.06	5.15	0.70609	.	0.000000	0.50627	D	0.000115	T	0.48205	0.1487	L	0.61218	1.895	0.45554	D	0.998503	D	0.65815	0.995	D	0.75484	0.986	T	0.42599	-0.9442	9	.	.	.	-11.9907	15.4339	0.75129	0.0662:0.0:0.9338:0.0	.	1115	O94913	PCF11_HUMAN	I	1115	ENSP00000298281:R1115I	.	R	+	2	0	PCF11	82558369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.049000	0.76613	1.585000	0.49928	0.655000	0.94253	AGA		0.423	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
PCF11	51585	broad.mit.edu	37	11	82888177	82888177	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82888177A>C	ENST00000298281.4	+	10	4260	c.3808A>C	c.(3808-3810)Aat>Cat	p.N1270H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1270					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.N1270H(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGTGGATGTAAATGAATTGTT	0.323																																					p.N1270H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3808C	11						.						41.0	39.0	40.0					11																	82888177		1819	4074	5893	82565825	SO:0001583	missense	51585	exon10			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3808A>C	11.37:g.82888177A>C	ENSP00000298281:p.Asn1270His	Somatic		Capture	Illumina HiSeq	Phase_I	82565825	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160341	0.78226	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	T;T	0.49139	1.66;0.79	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000031	T	0.56499	0.1989	L	0.34521	1.04	0.50039	D	0.999843	D	0.76494	0.999	D	0.80764	0.994	T	0.54241	-0.8323	9	.	.	.	-16.6171	13.8938	0.63757	1.0:0.0:0.0:0.0	.	1270	O94913	PCF11_HUMAN	H	1270;55	ENSP00000298281:N1270H;ENSP00000437076:N55H	.	N	+	1	0	PCF11	82565825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.211000	0.77933	2.016000	0.59253	0.482000	0.46254	AAT		0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
ANKRD42	338699	broad.mit.edu	37	11	82938873	82938873	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82938873T>G	ENST00000393392.2	+	7	950	c.788T>G	c.(787-789)aTt>aGt	p.I263S	ANKRD42_ENST00000533342.1_Missense_Mutation_p.I291S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.I290S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.I291S	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	263					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.I263S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTAATCAATATTAATGAGCGT	0.368																																					p.I263S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T788G	11						.						143.0	130.0	135.0					11																	82938873		2203	4300	6503	82616521	SO:0001583	missense	338699	exon7			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.788T>G	11.37:g.82938873T>G	ENSP00000377051:p.Ile263Ser	Somatic		Capture	Illumina HiSeq	Phase_I	82616521	NM_182603	Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831809	0.71258	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342;ENST00000342658;ENST00000531815	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;0.39	5.2	5.2	0.72013	Ankyrin repeat-containing domain (4);	0.411994	0.22550	N	0.058620	T	0.75406	0.3845	L	0.56124	1.755	0.36448	D	0.865901	D;D;D;D	0.64830	0.989;0.994;0.981;0.96	P;P;P;P	0.61940	0.896;0.896;0.896;0.832	T	0.79401	-0.1819	9	.	.	.	0.047	14.0489	0.64722	0.0:0.0:0.0:1.0	.	291;555;382;263	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	S	290;291;263;291;31;16	ENSP00000260047:I290S;ENSP00000434666:I291S;ENSP00000377051:I263S;ENSP00000435790:I291S;ENSP00000435197:I16S	.	I	+	2	0	ANKRD42	82616521	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.523000	0.67099	1.961000	0.56991	0.459000	0.35465	ATT		0.368	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	
CCDC90B	60492	broad.mit.edu	37	11	82989815	82989815	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:82989815A>G	ENST00000529689.1	-	3	712	c.278T>C	c.(277-279)gTc>gCc	p.V93A	CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Missense_Mutation_p.V93A|CCDC90B_ENST00000455220.2_Missense_Mutation_p.V84A			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	93						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V93A(1)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				ATCCAGGCTGACATTTGATAA	0.323																																					p.V93A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278C	11						.						148.0	131.0	137.0					11																	82989815		2202	4300	6502	82667463	SO:0001583	missense	60492	exon3			BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.278T>C	11.37:g.82989815A>G	ENSP00000434724:p.Val93Ala	Somatic		Capture	Illumina HiSeq	Phase_I	82667463	NM_021825	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568242	0.28003	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000527495;ENST00000529073	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.52	5.52	0.82312	.	0.057249	0.64402	D	0.000001	T	0.19366	0.0465	N	0.03608	-0.345	0.38622	D	0.951179	B;B	0.14805	0.001;0.011	B;B	0.17098	0.007;0.017	T	0.18618	-1.0331	9	.	.	.	-9.4602	10.108	0.42546	0.9255:0.0:0.0745:0.0	.	84;93	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	A	93;84;20;93	ENSP00000434724:V93A;ENSP00000390990:V84A;ENSP00000436974:V20A;ENSP00000431523:V93A	.	V	-	2	0	CCDC90B	82667463	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.616000	0.46376	2.107000	0.64212	0.451000	0.29950	GTC		0.323	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825	
TMEM126A	84233	broad.mit.edu	37	11	85365308	85365308	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:85365308C>T	ENST00000304511.2	+	3	389				TMEM126A_ENST00000528105.1_Intron|TMEM126A_ENST00000532180.1_Intron	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A						optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.?(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGGTAAATTCTACTTCACTA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						77.0	74.0	75.0					11																	85365308		2203	4299	6502	85042956	SO:0001627	intron_variant	84233	.				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.280+8C>T	11.37:g.85365308C>T		Somatic		Capture	Illumina HiSeq	Phase_I	85042956	.	B2R570|E9PI16	Intron	SNP	ENST00000304511.2	37	CCDS8268.1																																																																																				0.358	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273	
CREBZF	58487	broad.mit.edu	37	11	85375836	85375836	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:85375836A>C	ENST00000527447.1	-	1	310	c.84T>G	c.(82-84)acT>acG	p.T28T	CREBZF_ENST00000398294.2_5'Flank|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	28					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T28T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCAGCGAACAAGTTGCAGCCG	0.701																																					p.T28T	NSCLC(172;674 2044 9050 18334 41735)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T84G	11						.						12.0	15.0	14.0					11																	85375836		1760	3977	5737	85053484	SO:0001819	synonymous_variant	58487	exon1			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.84T>G	11.37:g.85375836A>C		Somatic		Capture	Illumina HiSeq	Phase_I	85053484	NM_001039618	B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	CCDS41697.1																																																																																				0.701	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
EED	8726	broad.mit.edu	37	11	85989006	85989006	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:85989006T>C	ENST00000263360.6	+	11	1858	c.1172T>C	c.(1171-1173)tTa>tCa	p.L391S	EED_ENST00000327320.4_Missense_Mutation_p.L391S|EED_ENST00000528180.1_Missense_Mutation_p.L311S|EED_ENST00000527888.1_Missense_Mutation_p.L56S|EED_ENST00000351625.6_Missense_Mutation_p.L416S	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	391	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.L391S(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GTTTGGGATTTAGAAGTAGAA	0.308																																					p.L391S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1172C	11						.						85.0	94.0	91.0					11																	85989006		2202	4298	6500	85666654	SO:0001583	missense	8726	exon11			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1172T>C	11.37:g.85989006T>C	ENSP00000263360:p.Leu391Ser	Somatic		Capture	Illumina HiSeq	Phase_I	85666654	NM_152991	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	CCDS8273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.772939|4.772939	0.90108|0.90108	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888|ENST00000534595	T;T;T;T;T|.	0.70749|.	1.29;1.31;1.29;1.29;-0.51|.	5.22|5.22	5.22|5.22	0.72569|0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83473|.	0.5262|.	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	P;D;D|.	0.79108|.	0.905;0.992;0.99|.	D|.	0.86841|.	0.2017|.	9|.	.|.	.|.	.|.	-7.1768|-7.1768	15.3794|15.3794	0.74641|0.74641	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	311;416;391|.	E9PJK2;O75530-2;O75530|.	.;.;EED_HUMAN|.	S|Q	391;311;416;391;140;56;56|106	ENSP00000263360:L391S;ENSP00000431778:L311S;ENSP00000338186:L416S;ENSP00000315587:L391S;ENSP00000437318:L56S|.	.|.	L|X	+|+	2|1	0|0	EED|EED	85666654|85666654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.560000|7.560000	0.82277|0.82277	2.108000|2.108000	0.64289|0.64289	0.482000|0.482000	0.46254|0.46254	TTA|TAG		0.308	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797	
C11orf73	51501	broad.mit.edu	37	11	86055656	86055656	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:86055656G>T	ENST00000278483.3	+	4	658	c.432G>T	c.(430-432)aaG>aaT	p.K144N	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Missense_Mutation_p.K144N	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	144					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)	p.K144N(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCACACAAAAGATGTTGGACA	0.328																																					p.K144N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G432T	11						.						55.0	53.0	54.0					11																	86055656		2202	4299	6501	85733304	SO:0001583	missense	51501	exon4			BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.432G>T	11.37:g.86055656G>T	ENSP00000278483:p.Lys144Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85733304	NM_016401	Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	37	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841351	0.71488	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.54071	0.59;0.59	5.95	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.79693	2.465	0.54753	D	0.999985	D;D	0.63046	0.973;0.992	D;D	0.68353	0.945;0.957	T	0.72157	-0.4375	9	.	.	.	-14.2019	9.8281	0.40925	0.1635:0.0:0.8365:0.0	.	144;144	Q53FT3;E9PPG8	CK073_HUMAN;.	N	144	ENSP00000432699:K144N;ENSP00000278483:K144N	.	K	+	3	2	C11orf73	85733304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.523000	0.45580	1.446000	0.47643	0.650000	0.86243	AAG		0.328	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401	
CCDC81	60494	broad.mit.edu	37	11	86111738	86111738	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:86111738G>T	ENST00000445632.2	+	7	1048	c.776G>T	c.(775-777)aGa>aTa	p.R259I	CCDC81_ENST00000354755.1_Missense_Mutation_p.R169I|CCDC81_ENST00000278487.3_Missense_Mutation_p.R42I|CCDC81_ENST00000528728.1_Missense_Mutation_p.R42I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	259								p.R169I(2)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCACCCAAAAGACTTCGAGAT	0.398																																					p.R259I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G776T	11						.						127.0	130.0	129.0					11																	86111738		2202	4299	6501	85789386	SO:0001583	missense	60494	exon7			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.776G>T	11.37:g.86111738G>T	ENSP00000415528:p.Arg259Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85789386	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331174	0.24167	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.63	-5.64	0.02466	.	0.626680	0.15431	N	0.262736	T	0.19805	0.0476	L	0.43152	1.355	0.20926	N	0.99983	P;P;B	0.42961	0.617;0.795;0.002	B;B;B	0.39805	0.105;0.31;0.007	T	0.08289	-1.0729	9	.	.	.	0.0039	1.9419	0.03348	0.3826:0.0904:0.333:0.194	.	42;259;169	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	169;42;259;42	ENSP00000346800:R169I;ENSP00000278487:R42I;ENSP00000415528:R259I;ENSP00000437165:R42I	.	R	+	2	0	CCDC81	85789386	0.000000	0.05858	0.003000	0.11579	0.139000	0.21198	-1.163000	0.03138	-0.957000	0.03627	0.655000	0.94253	AGA		0.398	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
PRSS23	11098	broad.mit.edu	37	11	86518863	86518863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:86518863G>T	ENST00000280258.5	+	2	603	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	60						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.E60*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCAAATTAGAAGTATCTTC	0.512																																					p.E60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G178T	11						.						87.0	83.0	84.0					11																	86518863		2201	4299	6500	86196511	SO:0001587	stop_gained	11098	exon2			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.178G>T	11.37:g.86518863G>T	ENSP00000280258:p.Glu60*	Somatic		Capture	Illumina HiSeq	Phase_I	86196511	NM_007173	B2RDJ1|B4E2J3|Q6IBI0	Nonsense_Mutation	SNP	ENST00000280258.5	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042656	0.55003	.	.	ENSG00000150687	ENST00000527521;ENST00000280258	.	.	.	5.8	5.8	0.92144	.	0.103789	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0462	13.2751	0.60182	0.0721:0.0:0.9279:0.0	.	.	.	.	X	60	.	.	E	+	1	0	PRSS23	86196511	1.000000	0.71417	0.993000	0.49108	0.225000	0.24961	7.577000	0.82486	2.748000	0.94277	0.655000	0.94253	GAA		0.512	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173	
TMEM135	65084	broad.mit.edu	37	11	87030431	87030431	+	Intron	SNP	C	C	T	rs111423868	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:87030431C>T	ENST00000305494.5	+	14	1283				TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135						peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAAGTGACTACGTAGTTTTCT	0.313													c|||	4	0.000798722	0.0023	0.0014	5008	,	,		14293	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	11						.	T	,	10,4392	17.9+/-39.9	0,10,2191	70.0	71.0	70.0		,	0.2	0.0	11	dbSNP_132	70	0,8598		0,0,4299	no	intron,intron	TMEM135	NM_001168724.1,NM_022918.3	,	0,10,6490	TT,TC,CC		0.0,0.2272,0.0769	,	,	87030431	10,12990	2201	4299	6500	86708079	SO:0001627	intron_variant	65084	.			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1244+12C>T	11.37:g.87030431C>T		Somatic		Capture	Illumina HiSeq	Phase_I	86708079	.	Q6AW91|Q8ND01|Q9H6M3	Intron	SNP	ENST00000305494.5	37	CCDS8280.1																																																																																				0.313	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
GRM5	2915	broad.mit.edu	37	11	88301050	88301050	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:88301050A>G	ENST00000305447.4	-	7	1950	c.1801T>C	c.(1801-1803)Ttc>Ctc	p.F601L	GRM5_ENST00000393297.1_Missense_Mutation_p.F601L|GRM5_ENST00000455756.2_Missense_Mutation_p.F601L|GRM5_ENST00000418177.2_Missense_Mutation_p.F601L|GRM5_ENST00000305432.5_Missense_Mutation_p.F601L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	601					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.F601L(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TAAATGATGAAGACTACAGTA	0.507																																					p.F601L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1801C	11						.						77.0	70.0	73.0					11																	88301050		2201	4299	6500	87940698	SO:0001583	missense	2915	exon8			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1801T>C	11.37:g.88301050A>G	ENSP00000306138:p.Phe601Leu	Somatic		Capture	Illumina HiSeq	Phase_I	87940698	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423341	0.83559	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.87900	2.915	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.76071	0.979;0.987	D	0.95461	0.8543	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	601;601	P41594-2;P41594	.;GRM5_HUMAN	L	601	ENSP00000402912:F601L;ENSP00000405690:F601L;ENSP00000305905:F601L;ENSP00000306138:F601L;ENSP00000376975:F601L	.	F	-	1	0	GRM5	87940698	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.339000	0.96797	2.187000	0.69744	0.533000	0.62120	TTC		0.507	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
GRM5	2915	broad.mit.edu	37	11	88583259	88583259	+	Silent	SNP	G	G	A	rs200564155		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:88583259G>A	ENST00000305447.4	-	2	875	c.726C>T	c.(724-726)atC>atT	p.I242I	GRM5_ENST00000393297.1_Silent_p.I242I|GRM5_ENST00000455756.2_Silent_p.I242I|GRM5_ENST00000418177.2_Silent_p.I242I|GRM5_ENST00000305432.5_Silent_p.I242I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	242					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I242I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAGAGTGGGCGATGCAAATCC	0.483																																					p.I242I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C726T	11						.						28.0	27.0	27.0					11																	88583259		2199	4275	6474	88222907	SO:0001819	synonymous_variant	2915	exon3			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.726C>T	11.37:g.88583259G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88222907	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.483	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
FOLH1B	219595	broad.mit.edu	37	11	89431621	89431621	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:89431621G>A	ENST00000532352.1	+	0	1903							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.E395K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTATGCAGGGGAGTCATTCCC	0.438																																					p.E395K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1183A	11						.						98.0	98.0	98.0					11																	89431621		2201	4295	6496	89071269			219595	exon14			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431621G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89071269	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.438	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
NAALAD2	10003	broad.mit.edu	37	11	89868768	89868768	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:89868768C>T	ENST00000534061.1	+	2	354	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	NAALAD2_ENST00000525171.1_Missense_Mutation_p.R42C|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R42C|NAALAD2_ENST00000375944.3_Missense_Mutation_p.R42C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	42					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.R42C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CACTTCTGTGCGCTATCATCA	0.338																																					p.R42C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124T	11						.						109.0	110.0	110.0					11																	89868768		2201	4299	6500	89508416	SO:0001583	missense	10003	exon2			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.124C>T	11.37:g.89868768C>T	ENSP00000432481:p.Arg42Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89508416	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864313	0.17250	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T;T	0.46819	0.88;1.25;1.38;0.86;2.66	4.84	0.664	0.17890	.	1.550820	0.03266	N	0.184053	T	0.33585	0.0868	N	0.14661	0.345	0.09310	N	1	P;B;P;D;B	0.64830	0.887;0.001;0.633;0.994;0.008	B;B;B;P;B	0.45660	0.416;0.002;0.302;0.489;0.002	T	0.16928	-1.0386	9	.	.	.	6.7857	4.5342	0.12020	0.147:0.3035:0.4593:0.0902	.	42;42;42;42;42	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	42	ENSP00000431989:R42C;ENSP00000432481:R42C;ENSP00000320083:R42C;ENSP00000435249:R42C;ENSP00000365111:R42C	.	R	+	1	0	NAALAD2	89508416	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-1.691000	0.01920	-0.020000	0.14032	0.650000	0.86243	CGC		0.338	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
FAT3	120114	broad.mit.edu	37	11	92087088	92087088	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:92087088G>A	ENST00000298047.6	+	1	1827	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	FAT3_ENST00000409404.2_Missense_Mutation_p.D604N|FAT3_ENST00000541502.1_Missense_Mutation_p.D604N|FAT3_ENST00000525166.1_Missense_Mutation_p.D454N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D604N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCAGCGATCGATATCGATGA	0.388										TCGA Ovarian(4;0.039)																											p.D604N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1810A	11						.						53.0	54.0	54.0					11																	92087088		1860	4104	5964	91726736	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1810G>A	11.37:g.92087088G>A	ENSP00000298047:p.Asp604Asn	Somatic		Capture	Illumina HiSeq	Phase_I	91726736	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	19.87	3.906859	0.72868	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.74	5.74	0.90152	.	.	.	.	.	D	0.84014	0.5379	H	0.95114	3.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88150	0.2850	9	0.72032	D	0.01	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	604	Q8TDW7-3	.	N	604;604;604;454	ENSP00000298047:D604N;ENSP00000387040:D604N;ENSP00000443786:D604N;ENSP00000432586:D454N	ENSP00000298047:D604N	D	+	1	0	FAT3	91726736	1.000000	0.71417	0.417000	0.26559	0.847000	0.48162	9.787000	0.99055	2.709000	0.92574	0.591000	0.81541	GAT		0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92088123	92088123	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:92088123C>T	ENST00000298047.6	+	1	2862	c.2845C>T	c.(2845-2847)Ctc>Ttc	p.L949F	FAT3_ENST00000409404.2_Missense_Mutation_p.L949F|FAT3_ENST00000541502.1_Missense_Mutation_p.L949F|FAT3_ENST00000525166.1_Missense_Mutation_p.L799F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	949	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L949F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTTGAAGATCTCCCTGTTGG	0.448										TCGA Ovarian(4;0.039)																											p.L949F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2845T	11						.						116.0	114.0	114.0					11																	92088123		1892	4135	6027	91727771	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2845C>T	11.37:g.92088123C>T	ENSP00000298047:p.Leu949Phe	Somatic		Capture	Illumina HiSeq	Phase_I	91727771	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	19.25	3.791861	0.70452	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	4.62;4.62;0.65;4.62	5.73	5.73	0.89815	.	.	.	.	.	T	0.66616	0.2807	L	0.58302	1.8	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.62459	-0.6850	9	0.39692	T	0.17	.	18.8762	0.92337	0.0:1.0:0.0:0.0	.	949	Q8TDW7-3	.	F	949;949;949;799	ENSP00000298047:L949F;ENSP00000387040:L949F;ENSP00000443786:L949F;ENSP00000432586:L799F	ENSP00000298047:L949F	L	+	1	0	FAT3	91727771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.007000	0.70731	2.720000	0.93068	0.591000	0.81541	CTC		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92531476	92531476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:92531476C>T	ENST00000298047.6	+	9	5314	c.5297C>T	c.(5296-5298)gCc>gTc	p.A1766V	FAT3_ENST00000409404.2_Missense_Mutation_p.A1766V|FAT3_ENST00000525166.1_Missense_Mutation_p.A1616V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1766	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1766V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATGATAATGCCCCAGTTTTT	0.438										TCGA Ovarian(4;0.039)																											p.A1766V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5297T	11						.						47.0	45.0	46.0					11																	92531476		1894	4116	6010	92171124	SO:0001583	missense	120114	exon9			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5297C>T	11.37:g.92531476C>T	ENSP00000298047:p.Ala1766Val	Somatic		Capture	Illumina HiSeq	Phase_I	92171124	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	18.02	3.529841	0.64860	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61510	0.1;0.1;0.1	5.93	5.93	0.95920	.	.	.	.	.	T	0.58061	0.2096	M	0.62266	1.93	0.80722	D	1	P	0.35684	0.515	B	0.34138	0.176	T	0.54669	-0.8259	9	0.28530	T	0.3	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	1766	Q8TDW7-3	.	V	1766;1766;1616	ENSP00000298047:A1766V;ENSP00000387040:A1766V;ENSP00000432586:A1616V	ENSP00000298047:A1766V	A	+	2	0	FAT3	92171124	0.753000	0.28349	0.987000	0.45799	0.994000	0.84299	4.862000	0.62976	2.818000	0.97014	0.591000	0.81541	GCC		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92569724	92569724	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:92569724C>T	ENST00000298047.6	+	15	10103				FAT3_ENST00000409404.2_Intron|FAT3_ENST00000525166.1_Intron			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3						homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTTGTTTTCCATGAAGCTA	0.418										TCGA Ovarian(4;0.039)																											.												.	.	2	Unknown(2)	large_intestine(2)	.	11						.						111.0	103.0	106.0					11																	92569724		1911	4140	6051	92209372	SO:0001627	intron_variant	120114	.			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10087-8C>T	11.37:g.92569724C>T		Somatic		Capture	Illumina HiSeq	Phase_I	92209372	.	B5MDB0|Q96AU6	Intron	SNP	ENST00000298047.6	37																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92577131	92577131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:92577131C>T	ENST00000298047.6	+	18	10615	c.10598C>T	c.(10597-10599)tCt>tTt	p.S3533F	FAT3_ENST00000409404.2_Missense_Mutation_p.S3533F|FAT3_ENST00000525166.1_Missense_Mutation_p.S3383F|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3533	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3533F(2)|p.S108F(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCAAGTTTCTCACACTTAC	0.443										TCGA Ovarian(4;0.039)																											p.S3533F												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C10598T	11						.						169.0	164.0	166.0					11																	92577131		1921	4136	6057	92216779	SO:0001583	missense	120114	exon18			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10598C>T	11.37:g.92577131C>T	ENSP00000298047:p.Ser3533Phe	Somatic		Capture	Illumina HiSeq	Phase_I	92216779	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.139964	0.77775	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55930	0.49;0.49;0.49	5.62	5.62	0.85841	.	.	.	.	.	T	0.81922	0.4925	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.87002	0.2117	9	0.87932	D	0	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	3533	Q8TDW7-3	.	F	3533;3533;3383	ENSP00000298047:S3533F;ENSP00000387040:S3533F;ENSP00000432586:S3383F	ENSP00000298047:S3533F	S	+	2	0	FAT3	92216779	1.000000	0.71417	0.996000	0.52242	0.727000	0.41649	7.755000	0.85180	2.650000	0.89964	0.561000	0.74099	TCT		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HEPHL1	341208	broad.mit.edu	37	11	93754579	93754579	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:93754579C>A	ENST00000315765.9	+	1	53	c.45C>A	c.(43-45)ttC>ttA	p.F15L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	15					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F15L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCCTCACATTCCTGGGTCTGT	0.502																																					p.F15L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C45A	11						.						126.0	126.0	126.0					11																	93754579		1926	4128	6054	93394227	SO:0001583	missense	341208	exon1			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.45C>A	11.37:g.93754579C>A	ENSP00000313699:p.Phe15Leu	Somatic		Capture	Illumina HiSeq	Phase_I	93394227	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929202	0.18131	.	.	ENSG00000181333	ENST00000315765	D	0.99150	-5.49	5.74	3.81	0.43845	.	0.312332	0.35349	N	0.003270	D	0.94820	0.8327	N	0.05351	-0.065	0.29144	N	0.878815	B	0.02656	0.0	B	0.01281	0.0	D	0.89664	0.3879	10	0.22706	T	0.39	.	10.3077	0.43691	0.0:0.6777:0.2533:0.069	.	15	Q6MZM0	HPHL1_HUMAN	L	15	ENSP00000313699:F15L	ENSP00000313699:F15L	F	+	3	2	HEPHL1	93394227	1.000000	0.71417	0.978000	0.43139	0.513000	0.34164	2.469000	0.45110	0.841000	0.35020	0.561000	0.74099	TTC		0.502	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
GPR83	10888	broad.mit.edu	37	11	94134329	94134329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:94134329C>T	ENST00000243673.2	-	1	256	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	GPR83_ENST00000539203.2_Missense_Mutation_p.A29T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	29					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.A29T(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGCCTCCGCGCTCTGCTCG	0.652																																					p.A29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	11						.						36.0	40.0	38.0					11																	94134329		2200	4297	6497	93773977	SO:0001583	missense	10888	exon1			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.85G>A	11.37:g.94134329C>T	ENSP00000243673:p.Ala29Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93773977	NM_016540	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998713	0.74818	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.60672	0.17;0.27	4.68	1.11	0.20524	.	0.529824	0.16489	N	0.212179	T	0.29028	0.0721	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.13407	0.009	T	0.10965	-1.0607	10	0.28530	T	0.3	.	5.024	0.14376	0.0874:0.255:0.5196:0.138	.	29	Q9NYM4	GPR83_HUMAN	T	29	ENSP00000243673:A29T;ENSP00000441550:A29T	ENSP00000243673:A29T	A	-	1	0	GPR83	93773977	0.616000	0.27035	0.230000	0.23976	0.013000	0.08279	0.343000	0.19944	0.377000	0.24735	-0.357000	0.07601	GCG		0.652	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
ANKRD49	54851	broad.mit.edu	37	11	94231249	94231249	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:94231249C>T	ENST00000544612.1	+	3	768	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	91					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.R91W(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCACAGTGCGGAGACTCCT	0.383																																					p.R91W	Melanoma(113;823 1621 4352 9582 22033)											ANKRD49,central_nervous_system,brain,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C271T	11						.						47.0	48.0	48.0					11																	94231249		2201	4298	6499	93870897	SO:0001583	missense	54851	exon3			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.271C>T	11.37:g.94231249C>T	ENSP00000440396:p.Arg91Trp	Somatic		Capture	Illumina HiSeq	Phase_I	93870897	NM_017704	Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621846	0.66787	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000545130;ENST00000302755	T;T;T	0.67523	-0.27;-0.27;-0.27	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.912497	0.09637	N	0.775476	T	0.81442	0.4823	M	0.84156	2.68	0.09310	N	1	D	0.57571	0.98	P	0.55303	0.773	T	0.73861	-0.3849	10	0.87932	D	0	-2.4181	16.2596	0.82533	0.1404:0.8596:0.0:0.0	.	91	Q8WVL7	ANR49_HUMAN	W	91;50;126;91	ENSP00000440396:R91W;ENSP00000442449:R50W;ENSP00000303518:R91W	ENSP00000303518:R91W	R	+	1	2	ANKRD49	93870897	0.009000	0.17119	0.845000	0.33349	0.785000	0.44390	1.673000	0.37534	2.885000	0.99019	0.655000	0.94253	CGG		0.383	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704	
PIWIL4	143689	broad.mit.edu	37	11	94310555	94310555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:94310555G>T	ENST00000299001.6	+	4	621	c.410G>T	c.(409-411)aGa>aTa	p.R137I	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	137					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.R137I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAGCATCTAGAAGGCTGAGA	0.383																																					p.R137I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410T	11						.						85.0	85.0	85.0					11																	94310555		2201	4298	6499	93950203	SO:0001583	missense	143689	exon4			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.410G>T	11.37:g.94310555G>T	ENSP00000299001:p.Arg137Ile	Somatic		Capture	Illumina HiSeq	Phase_I	93950203	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705511	0.48412	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.10763	2.84;2.84	5.28	3.29	0.37713	Argonaute/Dicer protein, PAZ (1);	0.080558	0.51477	D	0.000095	T	0.24122	0.0584	M	0.68593	2.085	0.80722	D	1	D	0.60575	0.988	D	0.64687	0.928	T	0.00800	-1.1561	10	0.44086	T	0.13	-25.4588	8.0289	0.30453	0.2445:0.0:0.7555:0.0	.	137	Q7Z3Z4	PIWL4_HUMAN	I	137;68	ENSP00000299001:R137I;ENSP00000440499:R68I	ENSP00000299001:R137I	R	+	2	0	PIWIL4	93950203	0.969000	0.33509	0.994000	0.49952	0.988000	0.76386	1.429000	0.34903	1.465000	0.48006	0.655000	0.94253	AGA		0.383	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
AMOTL1	154810	broad.mit.edu	37	11	94583284	94583284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:94583284G>T	ENST00000433060.2	+	7	1795	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E502*|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	552					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.E553*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCTAGACAAAGAATTCTTGAA	0.453																																					p.E552X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1654T	11						.						26.0	28.0	28.0					11																	94583284		1943	4148	6091	94222932	SO:0001587	stop_gained	154810	exon7			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1654G>T	11.37:g.94583284G>T	ENSP00000387739:p.Glu552*	Somatic		Capture	Illumina HiSeq	Phase_I	94222932	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	41	8.638335	0.98895	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-23.6644	20.088	0.97803	0.0:0.0:1.0:0.0	.	.	.	.	X	502;558;552	.	ENSP00000320968:E502X	E	+	1	0	AMOTL1	94222932	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.578000	0.98200	2.739000	0.93911	0.655000	0.94253	GAA		0.453	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
SESN3	143686	broad.mit.edu	37	11	94918625	94918625	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:94918625G>T	ENST00000536441.1	-	5	893	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	SESN3_ENST00000416495.2_Missense_Mutation_p.S186Y|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.S186Y|SESN3_ENST00000278499.2_Missense_Mutation_p.S47Y|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	186					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.S186Y(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTCAGGCAGAGACCAATTATT	0.363																																					p.S186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557A	11						.						82.0	84.0	83.0					11																	94918625		2201	4296	6497	94558273	SO:0001583	missense	143686	exon5			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.557C>A	11.37:g.94918625G>T	ENSP00000441927:p.Ser186Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	94558273	NM_144665	B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165146	0.57476	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.90309	3.105	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.995;0.997;0.998	T	0.78580	-0.2149	10	0.87932	D	0	1.6643	19.4864	0.95030	0.0:0.0:1.0:0.0	.	47;186;186	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	Y	186;47;186;186	ENSP00000441927:S186Y;ENSP00000278499:S47Y;ENSP00000376926:S186Y;ENSP00000407008:S186Y	ENSP00000278499:S47Y	S	-	2	0	SESN3	94558273	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.895000	0.92512	2.687000	0.91594	0.561000	0.74099	TCT		0.363	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
MAML2	84441	broad.mit.edu	37	11	95826581	95826581	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:95826581C>A	ENST00000524717.1	-	2	1898	c.614G>T	c.(613-615)aGa>aTa	p.R205I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	205					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R205I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AACACGAATTCTTTTGATATC	0.453			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.R205I			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614T	11						.						111.0	106.0	107.0					11																	95826581		1871	4121	5992	95466229	SO:0001583	missense	84441	exon2			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.614G>T	11.37:g.95826581C>A	ENSP00000434552:p.Arg205Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95466229	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182585	0.21870	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.56444	0.46;0.46	5.32	3.46	0.39613	.	0.156993	0.43416	D	0.000569	T	0.59810	0.2221	L	0.46157	1.445	0.44754	D	0.99775	D	0.71674	0.998	D	0.63488	0.915	T	0.58896	-0.7555	10	0.62326	D	0.03	-14.1874	8.694	0.34284	0.0:0.7709:0.0:0.2291	.	205	Q8IZL2	MAML2_HUMAN	I	205	ENSP00000434552:R205I;ENSP00000412394:R205I	ENSP00000412394:R205I	R	-	2	0	MAML2	95466229	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	3.980000	0.56895	0.636000	0.30508	-0.259000	0.10710	AGA		0.453	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
MAML2	84441	broad.mit.edu	37	11	95826688	95826688	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:95826688G>T	ENST00000524717.1	-	2	1798					NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.?(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGAGCTGAAAGACAGAAGGGA	0.358			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																.			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	1	Unknown(1)	large_intestine(1)	.	11						.						56.0	53.0	54.0					11																	95826688		1830	4080	5910	95466336	SO:0001627	intron_variant	84441	.			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.514-7C>A	11.37:g.95826688G>T		Somatic		Capture	Illumina HiSeq	Phase_I	95466336	.	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Intron	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.358	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
CCDC82	79780	broad.mit.edu	37	11	96117173	96117173	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:96117173A>C	ENST00000278520.5	-	3	1167	c.739T>G	c.(739-741)Tca>Gca	p.S247A	CCDC82_ENST00000542662.1_Missense_Mutation_p.S247A|CCDC82_ENST00000423339.2_Missense_Mutation_p.S247A			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	247								p.S247A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTTTGTTTTGAGAGTTCTTTG	0.358																																					p.S247A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T739G	11						.						94.0	94.0	94.0					11																	96117173		2201	4297	6498	95756821	SO:0001583	missense	79780	exon4			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.739T>G	11.37:g.96117173A>C	ENSP00000278520:p.Ser247Ala	Somatic		Capture	Illumina HiSeq	Phase_I	95756821	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.658755	0.29515	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.32515	1.88;1.88;1.88;1.45	5.56	4.41	0.53225	.	0.259006	0.30365	N	0.009796	T	0.28632	0.0709	M	0.68952	2.095	0.24121	N	0.995806	B;B	0.31318	0.319;0.087	B;B	0.30105	0.111;0.03	T	0.19418	-1.0306	10	0.11794	T	0.64	-2.4659	11.0405	0.47827	0.7047:0.2953:0.0:0.0	.	247;247	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	A	247	ENSP00000278520:S247A;ENSP00000444010:S247A;ENSP00000397156:S247A;ENSP00000442723:S247A	ENSP00000278520:S247A	S	-	1	0	CCDC82	95756821	0.997000	0.39634	0.911000	0.35937	0.996000	0.88848	1.568000	0.36418	1.000000	0.39049	0.477000	0.44152	TCA		0.358	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
JRKL	8690	broad.mit.edu	37	11	96123907	96123907	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:96123907G>A	ENST00000332349.4	+	2	341	c.94G>A	c.(94-96)Gca>Aca	p.A32T	CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000278520.5_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.A32T	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	32	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A32T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CAAACAACTGGCAGTGATTTA	0.368																																					p.A32T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94A	11						.						66.0	72.0	70.0					11																	96123907		2201	4298	6499	95763555	SO:0001583	missense	8690	exon1			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.94G>A	11.37:g.96123907G>A	ENSP00000333350:p.Ala32Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95763555	NM_003772	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302026	0.40694	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.63580	-0.05;-0.05	4.55	3.52	0.40303	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.216513	0.23249	U	0.050269	T	0.61578	0.2358	M	0.71036	2.16	0.34743	D	0.730966	P	0.34892	0.474	B	0.38921	0.285	T	0.72459	-0.4287	10	0.44086	T	0.13	-14.1511	10.4911	0.44752	0.0:0.0:0.7922:0.2078	.	32	Q9Y4A0	JERKL_HUMAN	T	32	ENSP00000333350:A32T;ENSP00000389989:A32T	ENSP00000333350:A32T	A	+	1	0	JRKL	95763555	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	1.465000	0.35299	2.084000	0.62774	0.400000	0.26472	GCA		0.368	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772	
CNTN5	53942	broad.mit.edu	37	11	100141897	100141897	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:100141897T>C	ENST00000524871.1	+	18	2528	c.2238T>C	c.(2236-2238)ttT>ttC	p.F746F	CNTN5_ENST00000527185.1_Silent_p.F746F|CNTN5_ENST00000279463.3_Silent_p.F746F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.F746F|CNTN5_ENST00000418526.2_Silent_p.F672F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	746	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.F746F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATATGAATTTCGAGTGGTAG	0.458																																					p.F672F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2016C	11						.						96.0	98.0	97.0					11																	100141897		1947	4155	6102	99647107	SO:0001819	synonymous_variant	53942	exon17			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2238T>C	11.37:g.100141897T>C		Somatic		Capture	Illumina HiSeq	Phase_I	99647107	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CNTN5	53942	broad.mit.edu	37	11	100170018	100170018	+	Missense_Mutation	SNP	G	G	A	rs199937129		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:100170018G>A	ENST00000524871.1	+	20	2800	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	CNTN5_ENST00000527185.1_Missense_Mutation_p.R837Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.R837Q|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.R837Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R763Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	837	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R837Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTCATTTATCGAGATGAAAGT	0.433																																					p.R763Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2288A	11						.	G	GLN/ARG,GLN/ARG	1,3723		0,1,1861	93.0	89.0	90.0		2510,2288	5.6	1.0	11		90	2,8160		0,2,4079	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	43,43	0,3,5940	AA,AG,GG		0.0245,0.0269,0.0252	probably-damaging,probably-damaging	837/1101,763/1027	100170018	3,11883	1862	4081	5943	99675228	SO:0001583	missense	53942	exon19			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2510G>A	11.37:g.100170018G>A	ENSP00000435637:p.Arg837Gln	Somatic		Capture	Illumina HiSeq	Phase_I	99675228	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953398	0.92660	2.69E-4	2.45E-4	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.89904	3.07	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.83003	-0.0176	10	0.87932	D	0	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	763;837	O94779-2;O94779	.;CNTN5_HUMAN	Q	837;837;837;763;837	ENSP00000433575:R837Q;ENSP00000436185:R837Q;ENSP00000435637:R837Q;ENSP00000393229:R763Q;ENSP00000279463:R837Q	ENSP00000279463:R837Q	R	+	2	0	CNTN5	99675228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.545000	0.73883	2.660000	0.90430	0.650000	0.86243	CGA		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CNTN5	53942	broad.mit.edu	37	11	100211266	100211266	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:100211266C>T	ENST00000524871.1	+	22	3092	c.2802C>T	c.(2800-2802)ttC>ttT	p.F934F	CNTN5_ENST00000279463.3_Silent_p.F934F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.F934F|CNTN5_ENST00000418526.2_Silent_p.F860F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	934	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.F934F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAGTCTTTCGTCATCCTAA	0.423																																					p.F860F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2580T	11						.						92.0	92.0	92.0					11																	100211266		1927	4147	6074	99716476	SO:0001819	synonymous_variant	53942	exon21			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2802C>T	11.37:g.100211266C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99716476	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
DYNC2H1	79659	broad.mit.edu	37	11	102999735	102999735	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:102999735G>A	ENST00000375735.2	+	13	2097		c.e13+1		DYNC2H1_ENST00000334267.7_Splice_Site|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATAATTAAGGTAAATGGGCT	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						43.0	44.0	44.0					11																	102999735		1795	4046	5841	102504945	SO:0001630	splice_region_variant	79659	.			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1953+1G>A	11.37:g.102999735G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102504945	.	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282082	0.80692	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6989	0.88289	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102504945	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.344000	0.97050	2.699000	0.92147	0.655000	0.94253	.		0.294	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron
DYNC2H1	79659	broad.mit.edu	37	11	103068661	103068661	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103068661G>T	ENST00000375735.2	+	48	7852		c.e48-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATTTCCACAGATAGTTTCTA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						33.0	30.0	31.0					11																	103068661		1862	4092	5954	102573871	SO:0001630	splice_region_variant	79659	.			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7709-1G>T	11.37:g.103068661G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102573871	.	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897978	0.72639	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102573871	1.000000	0.71417	0.998000	0.56505	0.653000	0.38743	8.374000	0.90133	2.861000	0.98227	0.655000	0.94253	.		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron
DYNC2H1	79659	broad.mit.edu	37	11	103349822	103349822	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:103349822G>T	ENST00000375735.2	+	89	12909		c.e89-1		DYNC2H1_ENST00000334267.7_Splice_Site|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTTTAAACAGGATGCATGTG	0.323																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	11						.						93.0	86.0	88.0					11																	103349822		1856	4103	5959	102855032	SO:0001630	splice_region_variant	79659	.			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12766-1G>T	11.37:g.103349822G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102855032	.	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225141	0.22457	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000533197	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2188	0.89895	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102855032	1.000000	0.71417	0.750000	0.31169	0.007000	0.05969	7.754000	0.85163	2.364000	0.80123	0.460000	0.39030	.		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron
GRIA4	2893	broad.mit.edu	37	11	105789652	105789652	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:105789652A>C	ENST00000530497.1	+	10	1476				GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000282499.5_Intron			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGGGTAAGCAAATCAACTTAT	0.353																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	11						.						81.0	79.0	80.0					11																	105789652		2202	4299	6501	105294862	SO:0001627	intron_variant	2893	.			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1476+8A>C	11.37:g.105789652A>C		Somatic		Capture	Illumina HiSeq	Phase_I	105294862	.	Q86XE8	Intron	SNP	ENST00000530497.1	37	CCDS8333.1																																																																																				0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
NPAT	4863	broad.mit.edu	37	11	108056058	108056058	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108056058G>T	ENST00000278612.8	-	10	924				NPAT_ENST00000610253.1_Intron	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTTAATAAAGAAAGAAAAAT	0.313																																					.												.	.	0			.	11						.						63.0	59.0	60.0					11																	108056058		1803	4060	5863	107561268	SO:0001627	intron_variant	4863	.			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.819-12C>A	11.37:g.108056058G>T		Somatic		Capture	Illumina HiSeq	Phase_I	107561268	.	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Intron	SNP	ENST00000278612.8	37	CCDS41710.1																																																																																				0.313	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
KDELC2	143888	broad.mit.edu	37	11	108350016	108350016	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:108350016C>T	ENST00000323468.5	-	6	1359				KDELC2_ENST00000434945.2_Intron|KDELC2_ENST00000375648.1_Intron|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2							endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATAAAAATTGCTGGACGCATA	0.299																																					.												.	.	0			.	11						.						51.0	49.0	50.0					11																	108350016		1818	4071	5889	107855226	SO:0001627	intron_variant	143888	.			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1293+11G>A	11.37:g.108350016C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107855226	.	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Intron	SNP	ENST00000323468.5	37	CCDS41711.1																																																																																				0.299	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
BTG4	54766	broad.mit.edu	37	11	111384249	111384249	+	5'Flank	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111384249C>T	ENST00000356018.2	-	0	0				RP11-794P6.6_ENST00000530283.1_RNA|MIR34C_ENST00000384831.1_RNA|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000375618.4_5'Flank|C11orf88_ENST00000332814.6_5'Flank|BTG4_ENST00000525791.1_5'Flank|C11orf88_ENST00000529167.1_5'Flank	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4						cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTTGGGAATTCGTCCAAATGA	0.423																																					.												.	.	0			.	11						.						67.0	58.0	61.0					11																	111384249		1566	3579	5145	110889459	SO:0001631	upstream_gene_variant	54766	.			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30			11.37:g.111384249C>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	110889459	.	Q8NEH7	5'Flank	SNP	ENST00000356018.2	37	CCDS8346.1																																																																																				0.423	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1		
DLAT	1737	broad.mit.edu	37	11	111904259	111904259	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:111904259G>T	ENST00000280346.6	+	5	1446				RNU6-893P_ENST00000458841.1_RNA|DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase						cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CTATAGGTGAGATTTCTTCAG	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						56.0	57.0	57.0					11																	111904259		2201	4297	6498	111409469	SO:0001627	intron_variant	1737	.			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.787+5G>T	11.37:g.111904259G>T		Somatic		Capture	Illumina HiSeq	Phase_I	111409469	.	Q16783|Q53EP3	Intron	SNP	ENST00000280346.6	37	CCDS8354.1																																																																																				0.408	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
FXYD6	53826	broad.mit.edu	37	11	117711907	117711907	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117711907G>T	ENST00000526014.1	-	5	768				FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000539526.1_Intron|FXYD6_ENST00000540359.1_Intron|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000527717.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD6_ENST00000260282.4_Intron|FXYD6_ENST00000530956.1_Intron|FXYD6_ENST00000527429.1_Intron|FXYD6_ENST00000524656.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000584230.1_Intron|FXYD6_ENST00000583233.1_Intron	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)	p.?(1)		central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GACCTGAAAAGCAAAGAAACC	0.577																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						84.0	73.0	77.0					11																	117711907		2201	4296	6497	117217117	SO:0001627	intron_variant	53826	.			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.173-8C>A	11.37:g.117711907G>T		Somatic		Capture	Illumina HiSeq	Phase_I	117217117	.	A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Intron	SNP	ENST00000526014.1	37	CCDS8387.1																																																																																				0.577	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003	
FXYD6	53826	broad.mit.edu	37	11	117712699	117712699	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:117712699G>A	ENST00000526014.1	-	3	693				FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000539526.1_Intron|FXYD6_ENST00000540359.1_Intron|FXYD6_ENST00000527717.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD6_ENST00000260282.4_Intron|FXYD6_ENST00000530956.1_Intron|FXYD6_ENST00000527429.1_Intron|FXYD6_ENST00000524656.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000584230.1_Intron|FXYD6_ENST00000583233.1_Intron	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)	p.?(1)		central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GGTTGCCATCGCTCACCATAA	0.542																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						122.0	122.0	122.0					11																	117712699		2201	4296	6497	117217909	SO:0001627	intron_variant	53826	.			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.97+5C>T	11.37:g.117712699G>A		Somatic		Capture	Illumina HiSeq	Phase_I	117217909	.	A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Intron	SNP	ENST00000526014.1	37	CCDS8387.1																																																																																				0.542	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003	
SCN4B	6330	broad.mit.edu	37	11	118014784	118014784	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:118014784A>G	ENST00000324727.4	-	3	381				SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit						AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGCTGGTGGAGGAAGGGAGT	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						101.0	95.0	97.0					11																	118014784		2200	4296	6496	117519994	SO:0001627	intron_variant	6330	.			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.235-8T>C	11.37:g.118014784A>G		Somatic		Capture	Illumina HiSeq	Phase_I	117519994	.	E9PPT5|Q6PIG5	Intron	SNP	ENST00000324727.4	37	CCDS8389.1																																																																																				0.547	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1		
ABCG4	64137	broad.mit.edu	37	11	119028933	119028933	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:119028933C>A	ENST00000449422.2	+	10	1256				ABCG4_ENST00000307417.3_Intron|AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4						cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GATCCAATTTCTTCTTCCCAG	0.537																																					.												.	.	0			.	11						.						234.0	235.0	235.0					11																	119028933		2200	4295	6495	118534143	SO:0001627	intron_variant	64137	.			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1069-11C>A	11.37:g.119028933C>A		Somatic		Capture	Illumina HiSeq	Phase_I	118534143	.	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Intron	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.537	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
POU2F3	25833	broad.mit.edu	37	11	120139961	120139961	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120139961C>T	ENST00000543440.2	+	3	282				POU2F3_ENST00000260264.4_Intron	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.?(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CAGGTAAGAACTTGGGTCAGA	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						44.0	46.0	45.0					11																	120139961		2203	4300	6503	119645171	SO:0001627	intron_variant	25833	.			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.132+8C>T	11.37:g.120139961C>T		Somatic		Capture	Illumina HiSeq	Phase_I	119645171	.	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Intron	SNP	ENST00000543440.2	37	CCDS8431.1																																																																																				0.368	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
ARHGEF12	23365	broad.mit.edu	37	11	120300412	120300412	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:120300412A>C	ENST00000397843.2	+	10	829				ARHGEF12_ENST00000532993.1_Intron|ARHGEF12_ENST00000356641.3_Intron	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TATTTTTATAACTTTTCAGTT	0.333			T	MLL	AML																																.			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Unknown(1)	large_intestine(1)	.	11						.						35.0	33.0	33.0					11																	120300412		1798	4061	5859	119805622	SO:0001627	intron_variant	23365	.			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.664-9A>C	11.37:g.120300412A>C		Somatic		Capture	Illumina HiSeq	Phase_I	119805622	.	O15086|Q6P526	Intron	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.333	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
MIR100	406892	broad.mit.edu	37	11	122022993	122022993	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:122022993G>T	ENST00000385259.1	-	0	23					NR_029515.1				microRNA 100																		CACAAGTTCGGATCTACGGGT	0.408																																					.												.	.	0			.	11						.						130.0	122.0	125.0					11																	122022993		1567	3581	5148	121528203			406892	.					11q24.1	2011-09-12		2008-12-18	ENSG00000207994	ENSG00000207994		"""ncRNAs / Micro RNAs"""	31487	non-coding RNA	RNA, micro		613186		MIRN100			Standard	NR_029515		Approved	hsa-mir-100	uc001pyh.1				11.37:g.122022993G>T		Somatic		Capture	Illumina HiSeq	Phase_I	121528203	.		RNA	SNP	ENST00000385259.1	37																																																																																					0.408	MIR100-201	KNOWN	basic	miRNA	miRNA		NR_029515	
OR8B4	283162	broad.mit.edu	37	11	124293832	124293832	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:124293832G>T	ENST00000356130.3	-	0	957					NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATATGAAGAGACCCATTAGA	0.418																																					.												.	.	0			.	11						.						61.0	61.0	61.0					11																	124293832		2201	4299	6500	123799042	SO:0001624	3_prime_UTR_variant	0	.			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.*6C>A	11.37:g.124293832G>T		Somatic		Capture	Illumina HiSeq	Phase_I	123799042	.	B2RNF8|Q6IFQ7	IGR	SNP	ENST00000356130.3	37	CCDS31710.1																																																																																				0.418	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
CHEK1	1111	broad.mit.edu	37	11	125499360	125499360	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:125499360G>T	ENST00000534070.1	+	5	679				CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000428830.2_Intron|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000524737.1_Intron|CHEK1_ENST00000438015.1_Intron|CHEK1_ENST00000544373.1_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1						cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAAGGGGTAAGTTTAGCATTT	0.299								Other conserved DNA damage response genes																													.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						75.0	76.0	75.0					11																	125499360		2201	4297	6498	125004570	SO:0001627	intron_variant	1111	.			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.424+5G>T	11.37:g.125499360G>T		Somatic		Capture	Illumina HiSeq	Phase_I	125004570	.	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Intron	SNP	ENST00000534070.1	37	CCDS8459.1																																																																																				0.299	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
KIRREL3	84623	broad.mit.edu	37	11	126295624	126295624	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:126295624A>G	ENST00000525144.2	-	16	2056				KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)						hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCCATCTGCAACCCAAAAAA	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						39.0	37.0	38.0					11																	126295624		1855	4093	5948	125800834	SO:0001627	intron_variant	84623	.			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1807-5T>C	11.37:g.126295624A>G		Somatic		Capture	Illumina HiSeq	Phase_I	125800834	.	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Intron	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																				0.478	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
NCAPD3	23310	broad.mit.edu	37	11	134027970	134027970	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:134027970G>T	ENST00000534548.2	-	31	4099					NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGCCTGTGGAGAACAGCCACA	0.587																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						70.0	73.0	72.0					11																	134027970		2201	4297	6498	133533180	SO:0001627	intron_variant	23310	.			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4035-8C>A	11.37:g.134027970G>T		Somatic		Capture	Illumina HiSeq	Phase_I	133533180	.	A6NFS2|Q4KMQ9	Intron	SNP	ENST00000534548.2	37	CCDS31723.1																																																																																				0.587	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
NCAPD3	23310	broad.mit.edu	37	11	134054648	134054648	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:134054648C>A	ENST00000534548.2	-	19	2400		c.e19-1		RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGACAGCATCTATGAAGGAA	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						71.0	69.0	70.0					11																	134054648		2201	4297	6498	133559858	SO:0001630	splice_region_variant	23310	.			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2336-1G>T	11.37:g.134054648C>A		Somatic		Capture	Illumina HiSeq	Phase_I	133559858	.	A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112003	0.37242	.	.	ENSG00000151503	ENST00000534548	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7103	0.96095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCAPD3	133559858	0.994000	0.37717	0.735000	0.30896	0.095000	0.18619	4.258000	0.58822	2.750000	0.94351	0.655000	0.94253	.		0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron
GLB1L2	89944	broad.mit.edu	37	11	134243677	134243677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr11:134243677G>A	ENST00000535456.2	+	16	1758	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.D524N|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D524N	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	524					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.D524N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTATAGCCTGGATATGAAGAA	0.537																																					p.D524N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1570A	11						.						107.0	117.0	113.0					11																	134243677		2201	4297	6498	133748887	SO:0001583	missense	89944	exon16				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1570G>A	11.37:g.134243677G>A	ENSP00000444628:p.Asp524Asn	Somatic		Capture	Illumina HiSeq	Phase_I	133748887	NM_138342	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.312828|5.312828	0.95655|0.95655	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.95554|.	-3.74;-3.74;-3.74|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Galactose-binding domain-like (1);|.	0.224065|.	0.45361|.	D|.	0.000374|.	T|T	0.68375|0.68375	0.2994|0.2994	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56287|.	0.975|.	P|.	0.57468|.	0.821|.	T|T	0.62774|0.62774	-0.6783|-0.6783	10|5	0.38643|.	T|.	0.18|.	-19.1718|-19.1718	19.4575|19.4575	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	524|.	Q8IW92|.	GLBL2_HUMAN|.	N|E	524|462	ENSP00000344659:D524N;ENSP00000444628:D524N;ENSP00000374531:D524N|.	ENSP00000344659:D524N|.	D|G	+|+	1|2	0|0	GLB1L2|GLB1L2	133748887|133748887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.769000|8.769000	0.91742|0.91742	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.537	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	
SYT1	6857	broad.mit.edu	37	12	79679684	79679684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:79679684delA	ENST00000261205.4	+	5	941	c.284delA	c.(283-285)gaafs	p.E95fs	SYT1_ENST00000552744.1_Frame_Shift_Del_p.E95fs|SYT1_ENST00000393240.3_Frame_Shift_Del_p.E95fs|SYT1_ENST00000457153.2_Frame_Shift_Del_p.E95fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	95					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.G97fs*8(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGGGAAAGGAAAAAGGAGGG	0.348																																					p.E95fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.284delA	12						.						134.0	127.0	129.0					12																	79679684		2203	4300	6503	78203815	SO:0001589	frameshift_variant	6857	exon5				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.284delA	12.37:g.79679684delA	ENSP00000261205:p.Glu95fs	Somatic		Capture	Illumina HiSeq	Phase_I	78203815	NM_005639	Q6AI31	Frame_Shift_Del	DEL	ENST00000261205.4	37	CCDS9017.1																																																																																				0.348	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639	
SLC5A8	160728	broad.mit.edu	37	12	101560345	101560345	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101560345T>C	ENST00000536262.2	-	12	2011	c.1453A>G	c.(1453-1455)Aat>Gat	p.N485D		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.N485D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGTCTCATTGTAGGTGCTG	0.348																																					p.N485D	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1453G	12						.						126.0	114.0	118.0					12																	101560345		2203	4300	6503	100084476	SO:0001583	missense	160728	exon12			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1453A>G	12.37:g.101560345T>C	ENSP00000445340:p.Asn485Asp	Somatic		Capture	Illumina HiSeq	Phase_I	100084476	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	7.129	0.579494	0.13686	.	.	ENSG00000256870	ENST00000536262	D	0.86297	-2.1	5.39	2.9	0.33743	.	0.556036	0.19217	N	0.119770	T	0.79499	0.4456	L	0.49350	1.555	0.09310	N	1	B	0.17465	0.022	B	0.23275	0.045	T	0.61053	-0.7140	10	0.23891	T	0.37	.	3.7943	0.08733	0.1298:0.0787:0.1339:0.6577	.	485	Q8N695	SC5A8_HUMAN	D	485	ENSP00000445340:N485D	ENSP00000445340:N485D	N	-	1	0	SLC5A8	100084476	0.340000	0.24792	0.279000	0.24732	0.008000	0.06430	1.493000	0.35605	2.047000	0.60756	0.533000	0.62120	AAT		0.348	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
SLC5A8	160728	broad.mit.edu	37	12	101577998	101577998	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101577998G>T	ENST00000536262.2	-	8	1524	c.966C>A	c.(964-966)ctC>ctA	p.L322L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.L322L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATAAGGCATGAGCTGAAAAA	0.378																																					p.L322L	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966A	12						.						58.0	57.0	57.0					12																	101577998		2203	4300	6503	100102129	SO:0001819	synonymous_variant	160728	exon8			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.966C>A	12.37:g.101577998G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100102129	NM_145913		Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																				0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
UTP20	27340	broad.mit.edu	37	12	101680176	101680176	+	Missense_Mutation	SNP	C	C	T	rs147399996	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101680176C>T	ENST00000261637.4	+	5	578	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	135					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.S135L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTATCACCTCGATCCTGGAG	0.423													C|||	3	0.000599042	0.0015	0.0	5008	,	,		17893	0.001		0.0	False		,,,				2504	0.0				p.S135L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C404T	12						.						228.0	224.0	225.0					12																	101680176		2203	4300	6503	100204307	SO:0001583	missense	27340	exon5			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.404C>T	12.37:g.101680176C>T	ENSP00000261637:p.Ser135Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100204307	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.36	2.213631	0.39102	.	.	ENSG00000120800	ENST00000261637	T	0.68025	-0.3	5.53	5.53	0.82687	Armadillo-type fold (1);	0.159504	0.43579	D	0.000555	T	0.54870	0.1885	L	0.55481	1.735	0.09310	N	1	D	0.54601	0.967	B	0.33960	0.173	T	0.57682	-0.7769	10	0.23302	T	0.38	-3.9994	14.2266	0.65863	0.1858:0.8142:0.0:0.0	.	135	O75691	UTP20_HUMAN	L	135	ENSP00000261637:S135L	ENSP00000261637:S135L	S	+	2	0	UTP20	100204307	0.963000	0.33076	0.374000	0.26016	0.632000	0.37999	3.115000	0.50391	2.585000	0.87301	0.557000	0.71058	TCG		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101699761	101699761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101699761G>A	ENST00000261637.4	+	16	2024	c.1850G>A	c.(1849-1851)gGc>gAc	p.G617D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	617					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G617D(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCCTTGTGTGGCTGCAAAGGG	0.438																																					p.G617D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1850A	12						.						143.0	135.0	138.0					12																	101699761		2203	4300	6503	100223892	SO:0001583	missense	27340	exon16			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1850G>A	12.37:g.101699761G>A	ENSP00000261637:p.Gly617Asp	Somatic		Capture	Illumina HiSeq	Phase_I	100223892	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586707	0.86851	.	.	ENSG00000120800	ENST00000261637	T	0.63913	-0.07	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69895	-0.5021	10	0.09843	T	0.71	-13.756	20.2191	0.98319	0.0:0.0:1.0:0.0	.	617	O75691	UTP20_HUMAN	D	617	ENSP00000261637:G617D	ENSP00000261637:G617D	G	+	2	0	UTP20	100223892	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.253000	0.89842	2.780000	0.95670	0.655000	0.94253	GGC		0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101723150	101723150	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101723150G>A	ENST00000261637.4	+	27	3514	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1114					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A1114T(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCTGATCAGCGCATACCTGCC	0.403																																					p.A1114T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3340A	12						.						139.0	126.0	131.0					12																	101723150		2203	4300	6503	100247281	SO:0001583	missense	27340	exon27			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3340G>A	12.37:g.101723150G>A	ENSP00000261637:p.Ala1114Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100247281	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	4.956	0.177549	0.09443	.	.	ENSG00000120800	ENST00000261637	T	0.63744	-0.06	5.6	-0.198	0.13224	Armadillo-type fold (1);	1.117700	0.06388	N	0.716566	T	0.37265	0.0997	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19063	-1.0317	10	0.23891	T	0.37	-0.9069	9.9561	0.41668	0.1627:0.5931:0.2443:0.0	.	1114	O75691	UTP20_HUMAN	T	1114	ENSP00000261637:A1114T	ENSP00000261637:A1114T	A	+	1	0	UTP20	100247281	0.000000	0.05858	0.021000	0.16686	0.306000	0.27790	0.177000	0.16801	0.098000	0.17522	-0.195000	0.12781	GCA		0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101779378	101779378	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101779378C>A	ENST00000261637.4	+	61	8248	c.8074C>A	c.(8074-8076)Cta>Ata	p.L2692I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2692					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2692I(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTGAAGAATCTATCCCAGGA	0.393																																					p.L2692I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8074A	12						.						113.0	117.0	116.0					12																	101779378		2203	4300	6503	100303509	SO:0001583	missense	27340	exon61			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.8074C>A	12.37:g.101779378C>A	ENSP00000261637:p.Leu2692Ile	Somatic		Capture	Illumina HiSeq	Phase_I	100303509	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894205	0.72639	.	.	ENSG00000120800	ENST00000261637	T	0.04862	3.54	5.93	4.1	0.47936	.	0.070537	0.64402	D	0.000018	T	0.17450	0.0419	M	0.62723	1.935	0.46167	D	0.998906	D	0.64830	0.994	D	0.63877	0.919	T	0.00251	-1.1877	10	0.59425	D	0.04	-10.1792	8.9186	0.35596	0.0:0.7758:0.0:0.2242	.	2692	O75691	UTP20_HUMAN	I	2692	ENSP00000261637:L2692I	ENSP00000261637:L2692I	L	+	1	2	UTP20	100303509	1.000000	0.71417	0.993000	0.49108	0.911000	0.54048	2.617000	0.46385	0.831000	0.34780	0.643000	0.83706	CTA		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
ARL1	400	broad.mit.edu	37	12	101790198	101790198	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:101790198C>T	ENST00000261636.8	-	5	668	c.494G>A	c.(493-495)gGc>gAc	p.G165D	ARL1_ENST00000551688.1_Missense_Mutation_p.G36D|ARL1_ENST00000551828.1_Missense_Mutation_p.G148D|ARL1_ENST00000539055.1_Missense_Mutation_p.G119D|ARL1_ENST00000536227.1_Missense_Mutation_p.G148D|ARL1_ENST00000551671.1_Missense_Mutation_p.G165D	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	165					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.G165D(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTCATCAAGGCCGGTGCCTTT	0.483																																					p.G165D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	12						.						205.0	200.0	202.0					12																	101790198		2013	4187	6200	100314329	SO:0001583	missense	400	exon5			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.494G>A	12.37:g.101790198C>T	ENSP00000261636:p.Gly165Asp	Somatic		Capture	Illumina HiSeq	Phase_I	100314329	NM_001177	B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023091	0.93462	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551688;ENST00000551828;ENST00000551671	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	6.02	5.11	0.69529	Small GTP-binding protein domain (1);	0.047720	0.85682	D	0.000000	D	0.95503	0.8539	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97365	0.9972	10	0.87932	D	0	-14.8991	16.542	0.84395	0.1316:0.8684:0.0:0.0	.	119;165;165	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	D	165;119;148;36;148;165	ENSP00000261636:G165D;ENSP00000439590:G119D;ENSP00000441808:G148D;ENSP00000447405:G36D;ENSP00000448850:G148D;ENSP00000448912:G165D	ENSP00000261636:G165D	G	-	2	0	ARL1	100314329	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	1.510000	0.48803	0.655000	0.94253	GGC		0.483	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177	
GNPTAB	79158	broad.mit.edu	37	12	102158747	102158747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:102158747C>T	ENST00000299314.7	-	13	2210	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	650					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.E650K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTAAATTTTCGTAACCCTTC	0.408																																					p.E650K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1948A	12						.						153.0	148.0	150.0					12																	102158747		2203	4300	6503	100682878	SO:0001583	missense	79158	exon13			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1948G>A	12.37:g.102158747C>T	ENSP00000299314:p.Glu650Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100682878	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015499	0.02078	.	.	ENSG00000111670	ENST00000299314	D	0.96073	-3.9	5.96	-1.68	0.08212	.	0.875761	0.10391	N	0.680365	D	0.85182	0.5638	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.73503	-0.3962	10	0.18276	T	0.48	-3.0054	1.6858	0.02841	0.2443:0.4043:0.111:0.2404	.	650	Q3T906	GNPTA_HUMAN	K	650	ENSP00000299314:E650K	ENSP00000299314:E650K	E	-	1	0	GNPTAB	100682878	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.113000	0.10774	-0.059000	0.13154	0.655000	0.94253	GAA		0.408	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
CLEC9A	283420	broad.mit.edu	37	12	10205328	10205328	+	Missense_Mutation	SNP	C	C	A	rs568055309		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10205328C>A	ENST00000355819.1	+	4	655	c.42C>A	c.(40-42)agC>agA	p.S14R	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	14					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S14R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGTGGGATAGCCCAGCACCAG	0.423																																					p.S14R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C42A	12						.						120.0	110.0	113.0					12																	10205328		2203	4300	6503	10096595	SO:0001583	missense	283420	exon4				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.42C>A	12.37:g.10205328C>A	ENSP00000348074:p.Ser14Arg	Somatic		Capture	Illumina HiSeq	Phase_I	10096595	NM_207345	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.005990	0.07866	.	.	ENSG00000197992	ENST00000355819	T	0.01414	4.92	4.2	-2.25	0.06888	.	1.456910	0.04526	N	0.385563	T	0.01489	0.0048	L	0.36672	1.1	0.09310	N	1	B	0.29432	0.244	B	0.26969	0.075	T	0.49826	-0.8898	10	0.15952	T	0.53	.	8.8272	0.35063	0.0:0.5024:0.0:0.4976	.	14	Q6UXN8	CLC9A_HUMAN	R	14	ENSP00000348074:S14R	ENSP00000348074:S14R	S	+	3	2	CLEC9A	10096595	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.409000	0.07160	-0.395000	0.07715	-0.238000	0.12139	AGC		0.423	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345	
DRAM1	55332	broad.mit.edu	37	12	102302023	102302023	+	Silent	SNP	C	C	T	rs61748065		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:102302023C>T	ENST00000258534.8	+	4	841	c.402C>T	c.(400-402)gtC>gtT	p.V134V	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	134					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V28V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTGTGGTGTCGTGTACACGC	0.498																																					p.V134V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C402T	12						.						196.0	199.0	198.0					12																	102302023		2098	4237	6335	100826154	SO:0001819	synonymous_variant	55332	exon4			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.402C>T	12.37:g.102302023C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100826154	NM_018370	B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	37	CCDS41823.1																																																																																				0.498	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370	
CLEC9A	283420	broad.mit.edu	37	12	10215663	10215663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10215663G>A	ENST00000355819.1	+	7	942	c.329G>A	c.(328-330)aGc>aAc	p.S110N		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	110					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S110N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GCCCATAACAGCAGTCCTTGT	0.358																																					p.S110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	12						.						112.0	115.0	114.0					12																	10215663		2203	4300	6503	10106930	SO:0001583	missense	283420	exon7				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.329G>A	12.37:g.10215663G>A	ENSP00000348074:p.Ser110Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10106930	NM_207345	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	5.443	0.266916	0.10294	.	.	ENSG00000197992	ENST00000355819	T	0.17054	2.3	4.51	2.37	0.29283	C-type lectin-like (1);	0.649741	0.13800	N	0.361917	T	0.11067	0.0270	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	10	0.87932	D	0	.	6.501	0.22168	0.2792:0.0:0.7208:0.0	.	110	Q6UXN8	CLC9A_HUMAN	N	110	ENSP00000348074:S110N	ENSP00000348074:S110N	S	+	2	0	CLEC9A	10106930	0.002000	0.14202	0.003000	0.11579	0.150000	0.21749	1.110000	0.31147	0.417000	0.25871	0.585000	0.79938	AGC		0.358	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345	
CLEC9A	283420	broad.mit.edu	37	12	10218101	10218101	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10218101T>C	ENST00000355819.1	+	9	1209	c.596T>C	c.(595-597)tTg>tCg	p.L199S		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L199S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TTTTCCAGGTTGCCAGCAGAG	0.438																																					p.L199S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T596C	12						.						128.0	104.0	112.0					12																	10218101		2203	4300	6503	10109368	SO:0001583	missense	283420	exon9				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.596T>C	12.37:g.10218101T>C	ENSP00000348074:p.Leu199Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10109368	NM_207345	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623836	0.28889	.	.	ENSG00000197992	ENST00000355819	T	0.19394	2.15	4.79	-4.78	0.03209	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.842778	0.09682	N	0.769678	T	0.12732	0.0309	L	0.41492	1.28	0.09310	N	0.999999	B	0.17268	0.021	B	0.17722	0.019	T	0.30446	-0.9978	10	0.39692	T	0.17	.	3.125	0.06405	0.0973:0.1162:0.3131:0.4734	.	199	Q6UXN8	CLC9A_HUMAN	S	199	ENSP00000348074:L199S	ENSP00000348074:L199S	L	+	2	0	CLEC9A	10109368	0.000000	0.05858	0.002000	0.10522	0.187000	0.23431	-0.734000	0.04893	-1.068000	0.03156	0.528000	0.53228	TTG		0.438	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345	
CLEC9A	283420	broad.mit.edu	37	12	10218167	10218167	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10218167C>T	ENST00000355819.1	+	9	1275	c.662C>T	c.(661-663)tCg>tTg	p.S221L		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	221	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S221L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCCCTTCTTTCGTCTAACTGC	0.418																																					p.S221L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C662T	12						.						211.0	173.0	186.0					12																	10218167		2203	4300	6503	10109434	SO:0001583	missense	283420	exon9				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.662C>T	12.37:g.10218167C>T	ENSP00000348074:p.Ser221Leu	Somatic		Capture	Illumina HiSeq	Phase_I	10109434	NM_207345	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812116	0.50527	.	.	ENSG00000197992	ENST00000355819	T	0.19105	2.17	4.79	3.87	0.44632	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.463593	0.16185	N	0.225657	T	0.36635	0.0974	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.56788	0.806	T	0.12167	-1.0558	10	0.35671	T	0.21	.	10.7407	0.46152	0.191:0.809:0.0:0.0	.	221	Q6UXN8	CLC9A_HUMAN	L	221	ENSP00000348074:S221L	ENSP00000348074:S221L	S	+	2	0	CLEC9A	10109434	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	-0.287000	0.08388	1.270000	0.44297	0.650000	0.86243	TCG		0.418	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345	
CLEC1A	51267	broad.mit.edu	37	12	10224024	10224024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10224024C>T	ENST00000315330.4	-	6	813	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CLEC1A_ENST00000457018.2_Missense_Mutation_p.E218K|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E159K	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	251	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E251K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CGCTTCAATTCTTTGCAGTCC	0.478																																					p.E251K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751A	12						.						201.0	180.0	187.0					12																	10224024		2203	4300	6503	10115291	SO:0001583	missense	51267	exon6			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.751G>A	12.37:g.10224024C>T	ENSP00000326407:p.Glu251Lys	Somatic		Capture	Illumina HiSeq	Phase_I	10115291	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283807	0.59867	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.18657	2.2;2.2;2.2	5.42	5.42	0.78866	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.51477	D	0.000083	T	0.30665	0.0772	L	0.35593	1.075	0.38249	D	0.941541	D;D;B	0.76494	0.997;0.999;0.225	D;D;B	0.87578	0.936;0.998;0.33	T	0.03148	-1.1067	10	0.06236	T	0.91	.	14.7261	0.69346	0.0:1.0:0.0:0.0	.	159;218;251	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	K	251;218;159	ENSP00000326407:E251K;ENSP00000415048:E218K;ENSP00000417010:E159K	ENSP00000326407:E251K	E	-	1	0	CLEC1A	10115291	0.931000	0.31567	0.922000	0.36590	0.172000	0.22775	2.270000	0.43355	2.531000	0.85337	0.563000	0.77884	GAA		0.478	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
NUP37	79023	broad.mit.edu	37	12	102479585	102479585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:102479585G>A	ENST00000552283.1	-	6	638	c.499C>T	c.(499-501)Cct>Tct	p.P167S	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.P167S			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	167					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.P167S(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CTCATGCCAGGAGAATGAAGA	0.313																																					p.P167S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499T	12						.						57.0	55.0	56.0					12																	102479585		2203	4300	6503	101003715	SO:0001583	missense	79023	exon5			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.499C>T	12.37:g.102479585G>A	ENSP00000448054:p.Pro167Ser	Somatic		Capture	Illumina HiSeq	Phase_I	101003715	NM_024057	Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876711	0.51801	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.28666	1.6;1.6	5.77	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.69248	2.105	0.80722	D	1	D;P	0.55605	0.972;0.802	P;B	0.54706	0.759;0.262	T	0.18808	-1.0325	10	0.13108	T	0.6	-14.8781	16.6011	0.84816	0.0:0.24:0.76:0.0	.	167;167	B4DKV8;Q8NFH4	.;NUP37_HUMAN	S	167	ENSP00000448054:P167S;ENSP00000251074:P167S	ENSP00000251074:P167S	P	-	1	0	NUP37	101003715	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.752000	0.62176	2.723000	0.93209	0.655000	0.94253	CCT		0.313	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	
IGF1	3479	broad.mit.edu	37	12	102874112	102874112	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:102874112A>C	ENST00000307046.8	-	1	229	c.48T>G	c.(46-48)ttT>ttG	p.F16L	IGF1_ENST00000337514.6_Missense_Mutation_p.F16L|IGF1_ENST00000424202.2_5'Flank|IGF1_ENST00000392904.1_Missense_Mutation_p.F16L|IGF1_ENST00000456098.1_Missense_Mutation_p.F16L	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	16					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)	p.F16L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						AGAAATCACAAAAGCAGCACT	0.348																																					p.F16L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T48G	12						.						104.0	107.0	106.0					12																	102874112		2203	4300	6503	101398242	SO:0001583	missense	3479	exon1			X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.48T>G	12.37:g.102874112A>C	ENSP00000302665:p.Phe16Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101398242	NM_001111285	B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	A	0.053	-1.244936	0.01481	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000307046	D;D;D;D	0.96554	-4.05;-4.04;-4.05;-3.04	6.17	3.45	0.39498	.	0.275743	0.43416	N	0.000574	D	0.85622	0.5739	N	0.03608	-0.345	0.36928	D	0.89175	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.77387	-0.2607	10	0.02654	T	1	-4.3146	7.1439	0.25573	0.6553:0.2556:0.0891:0.0	.	16;47;16	P05019;Q59GC5;E9PD02	IGF1_HUMAN;.;.	L	16	ENSP00000394999:F16L;ENSP00000337612:F16L;ENSP00000376637:F16L;ENSP00000302665:F16L	ENSP00000302665:F16L	F	-	3	2	IGF1	101398242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.572000	0.45999	0.402000	0.25451	-0.316000	0.08728	TTT		0.348	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618	
PAH	5053	broad.mit.edu	37	12	103288643	103288643	+	Missense_Mutation	SNP	T	T	G	rs374797155|rs199475570		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:103288643T>G	ENST00000553106.1	-	3	694	c.222A>C	c.(220-222)aaA>aaC	p.K74N	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.K69N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	74	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.K74N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CATACTCATCTTTCTTTAAAC	0.438																																					p.K74N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A222C	12						.						145.0	135.0	139.0					12																	103288643		2203	4300	6503	101812773	SO:0001583	missense	5053	exon3			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.222A>C	12.37:g.103288643T>G	ENSP00000448059:p.Lys74Asn	Somatic		Capture	Illumina HiSeq	Phase_I	101812773	NM_000277	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183418	0.38609	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99051	-4.86;-4.86;-5.37;-5.37	6.17	1.23	0.21249	Amino acid-binding ACT (1);	0.236824	0.49305	D	0.000157	D	0.95220	0.8450	N	0.21448	0.665	0.48632	D	0.999688	B;B	0.27416	0.178;0.008	B;B	0.24269	0.052;0.011	D	0.89623	0.3850	10	0.13108	T	0.6	-28.6653	9.6118	0.39668	0.0:0.3136:0.0:0.6864	.	74;74	B4DPN2;P00439	.;PH4H_HUMAN	N	74;69;74;74	ENSP00000448059:K74N;ENSP00000303500:K69N;ENSP00000447620:K74N;ENSP00000446658:K74N	ENSP00000303500:K69N	K	-	3	2	PAH	101812773	0.999000	0.42202	0.997000	0.53966	0.973000	0.67179	0.408000	0.21065	-0.019000	0.14055	0.533000	0.62120	AAA		0.438	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
STAB2	55576	broad.mit.edu	37	12	104092946	104092946	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104092946C>T	ENST00000388887.2	+	34	3859	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y		NM_017564.9	NP_060034.9			stabilin 2									p.H1219Y(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATGGCATGCATCGTGAGAC	0.488																																					p.H1219Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3655T	12						.						194.0	157.0	169.0					12																	104092946		2203	4300	6503	102617076	SO:0001583	missense	55576	exon34			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3655C>T	12.37:g.104092946C>T	ENSP00000373539:p.His1219Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	102617076	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953639	0.53293	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.45	5.45	0.79879	FAS1 domain (5);Growth factor, receptor (1);	0.055908	0.64402	D	0.000001	D	0.91469	0.7307	L	0.33245	0.995	0.35926	D	0.832179	D	0.89917	1.0	D	0.87578	0.998	D	0.90565	0.4518	10	0.20519	T	0.43	.	13.5662	0.61819	0.0:0.9256:0.0:0.0744	.	1219	Q8WWQ8	STAB2_HUMAN	Y	1219	ENSP00000373539:H1219Y	ENSP00000373539:H1219Y	H	+	1	0	STAB2	102617076	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	4.109000	0.57824	2.564000	0.86499	0.561000	0.74099	CAT		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104131550	104131550	+	Missense_Mutation	SNP	G	G	A	rs374730743		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104131550G>A	ENST00000388887.2	+	53	5893	c.5689G>A	c.(5689-5691)Gat>Aat	p.D1897N		NM_017564.9	NP_060034.9			stabilin 2									p.D1897N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACTACTTTCGATGCCTCGGT	0.517																																					p.D1897N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5689A	12						.	G	ASN/ASP	0,4406		0,0,2203	99.0	91.0	94.0		5689	-5.5	0.0	12		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB2	NM_017564.9	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1897/2552	104131550	1,13005	2203	4300	6503	102655680	SO:0001583	missense	55576	exon53			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5689G>A	12.37:g.104131550G>A	ENSP00000373539:p.Asp1897Asn	Somatic		Capture	Illumina HiSeq	Phase_I	102655680	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	5.276	0.236283	0.10023	0.0	1.16E-4	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.87729	-2.29	5.22	-5.53	0.02552	.	0.911366	0.09300	N	0.821102	T	0.73401	0.3582	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.56390	-0.7987	10	0.17369	T	0.5	.	9.411	0.38491	0.4553:0.1668:0.3779:0.0	.	1897	Q8WWQ8	STAB2_HUMAN	N	1897;584	ENSP00000373539:D1897N	ENSP00000258495:D584N	D	+	1	0	STAB2	102655680	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.442000	0.06871	-1.668000	0.01471	-2.039000	0.00418	GAT		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104142814	104142814	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104142814C>A	ENST00000388887.2	+	59	6522	c.6318C>A	c.(6316-6318)gtC>gtA	p.V2106V	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.V2106V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCACGAAGGTCTCCTGCAGCT	0.592																																					p.V2106V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6318A	12						.						78.0	72.0	74.0					12																	104142814		2203	4300	6503	102666944	SO:0001819	synonymous_variant	55576	exon59			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6318C>A	12.37:g.104142814C>A		Somatic		Capture	Illumina HiSeq	Phase_I	102666944	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.592	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104156142	104156142	+	Missense_Mutation	SNP	C	C	T	rs201240497		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104156142C>T	ENST00000388887.2	+	67	7654	c.7450C>T	c.(7450-7452)Cgg>Tgg	p.R2484W	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.R2484W(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCCTACTTTCGGATAAACCG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18750	0.001		0.0	False		,,,				2504	0.0				p.R2484W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7450T	12						.						131.0	119.0	123.0					12																	104156142		2203	4300	6503	102680272	SO:0001583	missense	55576	exon67			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7450C>T	12.37:g.104156142C>T	ENSP00000373539:p.Arg2484Trp	Somatic		Capture	Illumina HiSeq	Phase_I	102680272	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.82	2.349904	0.41599	.	.	ENSG00000136011	ENST00000388887	T	0.68624	-0.34	5.04	2.94	0.34122	.	0.164042	0.34725	N	0.003723	T	0.79505	0.4457	M	0.74258	2.255	0.33011	D	0.52749	D	0.89917	1.0	D	0.78314	0.991	D	0.85385	0.1122	10	0.87932	D	0	.	12.6743	0.56884	0.4895:0.5105:0.0:0.0	.	2484	Q8WWQ8	STAB2_HUMAN	W	2484	ENSP00000373539:R2484W	ENSP00000373539:R2484W	R	+	1	2	STAB2	102680272	0.993000	0.37304	0.997000	0.53966	0.096000	0.18686	1.536000	0.36072	1.070000	0.40811	0.561000	0.74099	CGG		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
HSP90B1	7184	broad.mit.edu	37	12	104333345	104333345	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104333345G>T	ENST00000299767.5	+	8	1216	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	345					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.R345I(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATATGGCAGAGACCATCAAAA	0.313																																					p.R345I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034T	12						.						110.0	115.0	113.0					12																	104333345		2203	4300	6503	102857475	SO:0001583	missense	7184	exon8			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1034G>T	12.37:g.104333345G>T	ENSP00000299767:p.Arg345Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102857475	NM_003299	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235589	0.95240	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.19669	2.13	5.5	5.5	0.81552	Ribosomal protein S5 domain 2-type fold (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69698	-0.5075	10	0.87932	D	0	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	345	P14625	ENPL_HUMAN	I	345;95	ENSP00000299767:R345I	ENSP00000299767:R345I	R	+	2	0	HSP90B1	102857475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.568000	0.86640	0.650000	0.86243	AGA		0.313	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
TDG	6996	broad.mit.edu	37	12	104376950	104376950	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104376950G>T	ENST00000392872.3	+	6	885	c.651G>T	c.(649-651)caG>caT	p.Q217H	TDG_ENST00000266775.9_Missense_Mutation_p.Q213H|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.Q74H|TDG_ENST00000542036.1_Intron	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	217					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.Q217H(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTCTAGTACAGAAATTACAGA	0.249								Base excision repair (BER), DNA glycosylases																													p.Q217H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G651T	12						.						107.0	117.0	113.0					12																	104376950		2175	4283	6458	102901080	SO:0001583	missense	6996	exon6			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.651G>T	12.37:g.104376950G>T	ENSP00000376611:p.Gln217His	Somatic		Capture	Illumina HiSeq	Phase_I	102901080	NM_003211	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213020	0.58452	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.111720	0.64402	D	0.000013	T	0.51822	0.1697	L	0.47016	1.485	0.80722	D	1	B;B	0.31459	0.324;0.324	B;B	0.39152	0.292;0.292	T	0.56135	-0.8029	10	0.87932	D	0	-10.7377	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	217;217	B2R848;Q13569	.;TDG_HUMAN	H	217;213;74;210	ENSP00000376611:Q217H;ENSP00000266775:Q213H;ENSP00000445899:Q74H;ENSP00000439825:Q210H	ENSP00000266775:Q213H	Q	+	3	2	TDG	102901080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.777000	0.62361	2.518000	0.84900	0.563000	0.77884	CAG		0.249	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
HCFC2	29915	broad.mit.edu	37	12	104496976	104496976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104496976G>T	ENST00000229330.4	+	15	2408	c.2304G>T	c.(2302-2304)aaG>aaT	p.K768N	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	768	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.K768N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TATCAGCAAAGAATGAAAAGG	0.388																																					p.K768N	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2304T	12						.						116.0	110.0	112.0					12																	104496976		2203	4300	6503	103021106	SO:0001583	missense	29915	exon15			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2304G>T	12.37:g.104496976G>T	ENSP00000229330:p.Lys768Asn	Somatic		Capture	Illumina HiSeq	Phase_I	103021106	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037812	0.54896	.	.	ENSG00000111727	ENST00000229330	T	0.54279	0.58	5.9	5.01	0.66863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.106716	0.64402	D	0.000007	T	0.61413	0.2345	L	0.52573	1.65	0.38093	D	0.937026	D	0.64830	0.994	P	0.60789	0.879	T	0.66126	-0.6001	10	0.87932	D	0	-16.9451	10.6653	0.45726	0.1417:0.0:0.8583:0.0	.	768	Q9Y5Z7	HCFC2_HUMAN	N	768	ENSP00000229330:K768N	ENSP00000229330:K768N	K	+	3	2	HCFC2	103021106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.561000	0.45905	2.798000	0.96311	0.650000	0.86243	AAG		0.388	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
EID3	493861	broad.mit.edu	37	12	104698678	104698678	+	Missense_Mutation	SNP	A	A	C	rs371069815		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104698678A>C	ENST00000527879.1	+	1	1162	c.966A>C	c.(964-966)gaA>gaC	p.E322D	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000524698.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3									p.E322D(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGCTTTTGAAATTTCTGAGG	0.363																																					p.E322D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A966C	12						.						60.0	59.0	59.0					12																	104698678		1813	4087	5900	103222808	SO:0001583	missense	493861	exon1			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.966A>C	12.37:g.104698678A>C	ENSP00000435619:p.Glu322Asp	Somatic		Capture	Illumina HiSeq	Phase_I	103222808	NM_001008394		Missense_Mutation	SNP	ENST00000527879.1	37	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.149800	0.37923	.	.	ENSG00000255150	ENST00000527879	T	0.41065	1.01	4.72	2.35	0.29111	.	.	.	.	.	T	0.31949	0.0813	L	0.40543	1.245	0.25381	N	0.988617	B	0.31790	0.34	B	0.36959	0.237	T	0.26573	-1.0099	9	0.15066	T	0.55	.	6.3326	0.21279	0.8021:0.0:0.1979:0.0	.	322	Q8N140	EID3_HUMAN	D	322	ENSP00000435619:E322D	ENSP00000435619:E322D	E	+	3	2	EID3	103222808	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	1.626000	0.37039	0.410000	0.25675	0.454000	0.30748	GAA		0.363	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394	
ALDH1L2	160428	broad.mit.edu	37	12	105420516	105420516	+	Silent	SNP	G	G	A	rs143634333		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:105420516G>A	ENST00000258494.9	-	22	2663	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	841	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.I841I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACACTCCATCGATGTCCCTGT	0.368																																					p.I841I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2523T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	161.0	154.0	157.0		2523	3.4	1.0	12	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	ALDH1L2	NM_001034173.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		841/924	105420516	1,13005	2203	4300	6503	103944646	SO:0001819	synonymous_variant	160428	exon22			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2523C>T	12.37:g.105420516G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103944646	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																				0.368	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
ALDH1L2	160428	broad.mit.edu	37	12	105455465	105455465	+	Silent	SNP	C	C	T	rs557856639	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:105455465C>T	ENST00000258494.9	-	8	1127	c.987G>A	c.(985-987)acG>acA	p.T329T	ALDH1L2_ENST00000424857.2_Silent_p.T329T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	329					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.T329T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACGTCTCACCCGTTGAAAAGT	0.413													C|||	3	0.000599042	0.0	0.0	5008	,	,		20354	0.003		0.0	False		,,,				2504	0.0				p.T329T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G987A	12						.						167.0	155.0	159.0					12																	105455465		2203	4300	6503	103979595	SO:0001819	synonymous_variant	160428	exon8			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.987G>A	12.37:g.105455465C>T		Somatic		Capture	Illumina HiSeq	Phase_I	103979595	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																				0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
KIAA1033	23325	broad.mit.edu	37	12	105514337	105514337	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:105514337G>A	ENST00000332180.5	+	8	610	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_015275.1	NP_056090.1			KIAA1033									p.A175T(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTATAGGATTGCACCCAAAAT	0.279																																					p.A175T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	12						.						52.0	53.0	53.0					12																	105514337		1789	4067	5856	104038467	SO:0001583	missense	23325	exon8			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.523G>A	12.37:g.105514337G>A	ENSP00000328062:p.Ala175Thr	Somatic		Capture	Illumina HiSeq	Phase_I	104038467	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441885	0.25900	.	.	ENSG00000136051	ENST00000332180	T	0.30981	1.51	5.68	5.68	0.88126	.	0.205316	0.49305	D	0.000154	T	0.22244	0.0536	L	0.38531	1.155	0.37440	D	0.914393	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11155	-1.0599	10	0.08837	T	0.75	.	12.3162	0.54958	0.0774:0.0:0.9226:0.0	.	175;175	B7ZKT9;Q2M389	.;WASH7_HUMAN	T	175	ENSP00000328062:A175T	ENSP00000328062:A175T	A	+	1	0	KIAA1033	104038467	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.685000	0.61693	2.672000	0.90937	0.650000	0.86243	GCA		0.279	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
KIAA1033	23325	broad.mit.edu	37	12	105553903	105553903	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:105553903T>G	ENST00000332180.5	+	29	3124	c.3037T>G	c.(3037-3039)Ttc>Gtc	p.F1013V		NM_015275.1	NP_056090.1			KIAA1033									p.F1013V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TCTCCGAAATTTCTATATAAT	0.343																																					p.F1013V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3037G	12						.						104.0	107.0	106.0					12																	105553903		1795	4063	5858	104078033	SO:0001583	missense	23325	exon29			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3037T>G	12.37:g.105553903T>G	ENSP00000328062:p.Phe1013Val	Somatic		Capture	Illumina HiSeq	Phase_I	104078033	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643906	0.87859	.	.	ENSG00000136051	ENST00000332180;ENST00000551224	D;D	0.83506	-1.73;-1.73	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93930	0.7213	10	0.87932	D	0	.	14.6679	0.68921	0.0:0.0:0.0:1.0	.	1014;1013	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	1013;91	ENSP00000328062:F1013V;ENSP00000447015:F91V	ENSP00000328062:F1013V	F	+	1	0	KIAA1033	104078033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	1.925000	0.55765	0.467000	0.42956	TTC		0.343	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
POLR3B	55703	broad.mit.edu	37	12	106773859	106773859	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:106773859G>A	ENST00000228347.4	+	9	887	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.R164Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	222					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R222Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAACAAGGACGATTTTATTTG	0.358																																					p.R222Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	12						.						151.0	131.0	137.0					12																	106773859		2203	4300	6503	105297989	SO:0001583	missense	55703	exon9			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.665G>A	12.37:g.106773859G>A	ENSP00000228347:p.Arg222Gln	Somatic		Capture	Illumina HiSeq	Phase_I	105297989	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204370	0.79127	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.62364	0.03;0.03	5.71	5.71	0.89125	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	L	0.52573	1.65	0.80722	D	1	B	0.24920	0.114	B	0.29598	0.104	T	0.59069	-0.7523	10	0.51188	T	0.08	-13.2569	19.4464	0.94849	0.0:0.0:1.0:0.0	.	222	Q9NW08	RPC2_HUMAN	Q	222;222;164	ENSP00000228347:R222Q;ENSP00000445721:R164Q	ENSP00000228347:R222Q	R	+	2	0	POLR3B	105297989	0.998000	0.40836	0.407000	0.26434	0.991000	0.79684	6.279000	0.72620	2.694000	0.91930	0.585000	0.79938	CGA		0.358	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
RFX4	5992	broad.mit.edu	37	12	107078609	107078609	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:107078609C>T	ENST00000392842.1	+	6	791				RFX4_ENST00000357881.4_Intron|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.F6F	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F6F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						gggctgccttcggagggtctg	0.458																																					p.F6F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18T	12						.						42.0	37.0	38.0					12																	107078609		2201	4299	6500	105602739	SO:0001627	intron_variant	5992	exon1			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.378-2053C>T	12.37:g.107078609C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105602739	NM_032491	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																				0.458	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
RFX4	5992	broad.mit.edu	37	12	107125965	107125965	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:107125965C>A	ENST00000392842.1	+	14	1823	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	RFX4_ENST00000357881.4_Missense_Mutation_p.S479Y|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.S376Y	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	470	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S479Y(1)|p.S470Y(1)|p.S376Y(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTTAGAATCTCTGCACTGT	0.463																																					p.S470Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1409A	12						.						172.0	157.0	162.0					12																	107125965		2203	4300	6503	105650095	SO:0001583	missense	5992	exon14			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1409C>A	12.37:g.107125965C>A	ENSP00000376585:p.Ser470Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	105650095	NM_213594	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776185	0.90195	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.66815	-0.23;-0.23;0.76	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.56769	1.78	0.80722	D	1	D;P;P;P	0.71674	0.998;0.879;0.784;0.808	P;B;B;B	0.62491	0.903;0.414;0.414;0.17	T	0.79332	-0.1847	10	0.72032	D	0.01	-17.1944	14.5364	0.67963	0.0:0.9299:0.0:0.0701	.	376;479;479;470	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	Y	470;479;479;376	ENSP00000376585:S470Y;ENSP00000350552:S479Y;ENSP00000229387:S376Y	ENSP00000229387:S376Y	S	+	2	0	RFX4	105650095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	1.439000	0.47511	0.650000	0.86243	TCT		0.463	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
MTERF2	80298	broad.mit.edu	37	12	107371793	107371793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:107371793G>T	ENST00000552029.1	-	2	2768	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	MTERFD3_ENST00000392830.2_Missense_Mutation_p.L234I|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L234I|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)	p.L234I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TGCTCCTGGAGAAATTCTAGT	0.363																																					p.L234I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C700A	12						.						52.0	60.0	57.0					12																	107371793		2202	4300	6502	105895923	SO:0001583	missense	80298	exon3																														ENST00000552029.1:c.700C>A	12.37:g.107371793G>T	ENSP00000447651:p.Leu234Ile	Somatic		Capture	Illumina HiSeq	Phase_I	105895923	NM_025198	Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156237	0.57259	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.19250	2.16;2.16;2.16	5.81	3.99	0.46301	.	0.188657	0.47455	D	0.000221	T	0.33381	0.0861	L	0.56769	1.78	0.45718	D	0.998629	P	0.45715	0.865	P	0.54346	0.749	T	0.03306	-1.1050	10	0.66056	D	0.02	0.5932	9.6653	0.39981	0.2115:0.0:0.7885:0.0	.	234	Q49AM1	MTER3_HUMAN	I	234	ENSP00000376575:L234I;ENSP00000240050:L234I;ENSP00000447651:L234I	ENSP00000240050:L234I	L	-	1	0	MTERFD3	105895923	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	3.927000	0.56499	0.804000	0.34136	0.460000	0.39030	CTC		0.363	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
WSCD2	9671	broad.mit.edu	37	12	108620898	108620898	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:108620898C>T	ENST00000332082.4	+	7	1754	c.936C>T	c.(934-936)tgC>tgT	p.C312C	WSCD2_ENST00000261400.3_Silent_p.C312C|WSCD2_ENST00000549903.1_Silent_p.C312C|WSCD2_ENST00000547525.1_Silent_p.C312C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	312	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.C312C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TTGAGAGCTGCGGGACTCCTA	0.592																																					p.C312C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C936T	12						.						61.0	66.0	65.0					12																	108620898		2038	4182	6220	107145028	SO:0001819	synonymous_variant	9671	exon6				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.936C>T	12.37:g.108620898C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107145028	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.592	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
CMKLR1	1240	broad.mit.edu	37	12	108685988	108685988	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:108685988C>T	ENST00000312143.7	-	3	1115	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R249H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R249H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R251H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R251H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	251					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R249H(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CTTGGCCAGGCGGTTGCGCTG	0.542																																					p.R249H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	12						.						74.0	81.0	79.0					12																	108685988		2098	4228	6326	107210118	SO:0001583	missense	1240	exon3			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.752G>A	12.37:g.108685988C>T	ENSP00000311733:p.Arg251His	Somatic		Capture	Illumina HiSeq	Phase_I	107210118	NM_004072	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974203	0.74246	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.45	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.242088	0.40908	N	0.000994	T	0.56217	0.1970	M	0.80422	2.495	0.35931	D	0.832491	D	0.61080	0.989	P	0.55871	0.786	T	0.64618	-0.6365	10	0.29301	T	0.29	.	11.2792	0.49184	0.0:0.8523:0.0:0.1477	.	251	Q99788	CML1_HUMAN	H	251;251;249;249;251	ENSP00000311733:R251H;ENSP00000401293:R251H;ENSP00000380803:R249H;ENSP00000447579:R249H;ENSP00000449716:R251H	ENSP00000311733:R251H	R	-	2	0	CMKLR1	107210118	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.949000	0.49074	0.688000	0.31529	-0.238000	0.12139	CGC		0.542	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1		
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	409	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582																																					p.G409G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1227T	12						.						101.0	94.0	97.0					12																	108913102		2203	4300	6503	107437232	SO:0001819	synonymous_variant	11153	exon3			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1227C>T	12.37:g.108913102C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107437232	NM_007076	O75406	Silent	SNP	ENST00000552695.1	37	CCDS9116.1																																																																																				0.582	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076	
SART3	9733	broad.mit.edu	37	12	108920021	108920021	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:108920021C>T	ENST00000228284.3	-	16	2459	c.2225G>A	c.(2224-2226)cGt>cAt	p.R742H	SART3_ENST00000431469.2_Missense_Mutation_p.R706H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	742	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R742H(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GAAATCCCCACGGTTGCTGAA	0.562									Porokeratosis																												p.R742H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2225A	12						.						104.0	98.0	100.0					12																	108920021		2203	4300	6503	107444151	SO:0001583	missense	9733	exon16	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2225G>A	12.37:g.108920021C>T	ENSP00000228284:p.Arg742His	Somatic		Capture	Illumina HiSeq	Phase_I	107444151	NM_014706	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290183	0.80914	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000546815	T;T;T	0.15718	2.4;2.4;2.4	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115860	0.64402	D	0.000012	T	0.26593	0.0650	L	0.39566	1.225	0.80722	D	1	P;D;D	0.71674	0.867;0.998;0.998	B;D;P	0.63877	0.175;0.919;0.883	T	0.01081	-1.1458	10	0.44086	T	0.13	-17.3151	7.6105	0.28126	0.0:0.807:0.0:0.193	.	760;706;742	F8VV04;B7ZKM0;Q15020	.;.;SART3_HUMAN	H	742;706;307;760	ENSP00000228284:R742H;ENSP00000414453:R706H;ENSP00000449386:R760H	ENSP00000228284:R742H	R	-	2	0	SART3	107444151	0.994000	0.37717	0.970000	0.41538	0.788000	0.44548	2.760000	0.47581	2.746000	0.94184	0.655000	0.94253	CGT		0.562	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		
SSH1	54434	broad.mit.edu	37	12	109210873	109210873	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109210873G>A	ENST00000326495.5	-	5	435	c.342C>T	c.(340-342)agC>agT	p.S114S	SSH1_ENST00000326470.5_Silent_p.S125S|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000551165.1_Silent_p.S114S|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	114					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S114S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGCGCCCGCTGCTGTACA	0.597																																					p.S114S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C342T	12						.						155.0	130.0	139.0					12																	109210873		2203	4300	6503	107735002	SO:0001819	synonymous_variant	54434	exon5			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.342C>T	12.37:g.109210873G>A		Somatic		Capture	Illumina HiSeq	Phase_I	107735002	NM_001161330	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	CCDS9121.1																																																																																				0.597	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
DAO	1610	broad.mit.edu	37	12	109293207	109293207	+	Missense_Mutation	SNP	C	C	T	rs201364697		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109293207C>T	ENST00000228476.3	+	10	1072	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	DAO_ENST00000551281.1_Missense_Mutation_p.R224W	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	290					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.R290W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCCCCAGATTCGGCTAGAAAG	0.478													c|||	1	0.000199681	0.0008	0.0	5008	,	,		23620	0.0		0.0	False		,,,				2504	0.0				p.R290W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	12						.						45.0	38.0	40.0					12																	109293207		2203	4300	6503	107817336	SO:0001583	missense	1610	exon10			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.868C>T	12.37:g.109293207C>T	ENSP00000228476:p.Arg290Trp	Somatic		Capture	Illumina HiSeq	Phase_I	107817336	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	14.62	2.591244	0.46214	.	.	ENSG00000110887	ENST00000551281;ENST00000228476	D;D	0.81739	-1.53;-1.53	5.14	4.25	0.50352	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91163	0.4962	10	0.87932	D	0	-16.9776	6.7104	0.23274	0.1752:0.7334:0.0:0.0914	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	W	224;290	ENSP00000446853:R224W;ENSP00000228476:R290W	ENSP00000228476:R290W	R	+	1	2	DAO	107817336	0.992000	0.36948	0.934000	0.37439	0.225000	0.24961	2.898000	0.48672	1.179000	0.42884	-0.284000	0.09977	CGG		0.478	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
UNG	7374	broad.mit.edu	37	12	109536400	109536400	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109536400A>T	ENST00000242576.2	+	2	402	c.296A>T	c.(295-297)aAg>aTg	p.K99M	UNG_ENST00000336865.2_Missense_Mutation_p.K90M	NM_080911.2	NP_550433.1			uracil-DNA glycosylase									p.K90M(1)|p.K99M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAGAGCTGGAAGAAGCACCTC	0.577								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																												p.K99M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A296T	12						.						43.0	50.0	48.0					12																	109536400		2198	4289	6487	108020783	SO:0001583	missense	7374	exon2	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.296A>T	12.37:g.109536400A>T	ENSP00000242576:p.Lys99Met	Somatic		Capture	Illumina HiSeq	Phase_I	108020783	NM_080911		Missense_Mutation	SNP	ENST00000242576.2	37	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649560	0.47362	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	T;T	0.77229	-1.08;-1.08	4.21	3.07	0.35406	Uracil-DNA glycosylase-like (2);	0.152290	0.56097	D	0.000036	T	0.78052	0.4223	M	0.88241	2.94	0.41505	D	0.988304	B;B	0.18461	0.015;0.028	B;B	0.20184	0.028;0.028	T	0.74253	-0.3725	10	0.52906	T	0.07	-22.0769	6.8932	0.24241	0.8059:0.0:0.1941:0.0	.	90;99	E5KTA6;P13051	.;UNG_HUMAN	M	99;90;56	ENSP00000242576:K99M;ENSP00000337398:K90M	ENSP00000242576:K99M	K	+	2	0	UNG	108020783	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	3.778000	0.55371	0.681000	0.31386	0.374000	0.22700	AAG		0.577	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911	
ACACB	32	broad.mit.edu	37	12	109577534	109577534	+	Silent	SNP	C	C	T	rs369606146		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109577534C>T	ENST00000338432.7	+	2	443	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ACACB_ENST00000377854.5_Silent_p.D108D|ACACB_ENST00000377848.3_Silent_p.D108D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	108					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.D108D(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTCCAGTGACGCAGCACCCT	0.632																																					p.D108D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	12						.	C		0,4406		0,0,2203	104.0	111.0	108.0		324	-1.6	0.0	12		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACACB	NM_001093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		108/2459	109577534	1,13005	2203	4300	6503	108061917	SO:0001819	synonymous_variant	32	exon1			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.324C>T	12.37:g.109577534C>T		Somatic		Capture	Illumina HiSeq	Phase_I	108061917	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.632	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
ACACB	32	broad.mit.edu	37	12	109605744	109605744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109605744G>A	ENST00000338432.7	+	4	949	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ACACB_ENST00000377854.5_Missense_Mutation_p.R277H|ACACB_ENST00000377848.3_Missense_Mutation_p.R277H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	277	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R277H(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGTGCATGCGCTCCATCCGC	0.592																																					p.R277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	12						.						154.0	103.0	120.0					12																	109605744		2203	4300	6503	108090127	SO:0001583	missense	32	exon3			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.830G>A	12.37:g.109605744G>A	ENSP00000341044:p.Arg277His	Somatic		Capture	Illumina HiSeq	Phase_I	108090127	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574800	0.96553	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.73789	-0.78;-0.78;-0.78	5.16	5.16	0.70880	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.097634	0.64402	D	0.000001	D	0.91331	0.7266	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94454	0.7670	10	0.87932	D	0	.	18.2724	0.90072	0.0:0.0:1.0:0.0	.	277	O00763	ACACB_HUMAN	H	277	ENSP00000341044:R277H;ENSP00000367079:R277H;ENSP00000367085:R277H	ENSP00000341044:R277H	R	+	2	0	ACACB	108090127	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.842000	0.99487	2.400000	0.81607	0.563000	0.77884	CGC		0.592	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
ACACB	32	broad.mit.edu	37	12	109623543	109623543	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109623543G>A	ENST00000338432.7	+	12	2097	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ACACB_ENST00000377854.5_Missense_Mutation_p.E660K|ACACB_ENST00000377848.3_Missense_Mutation_p.E660K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	660	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E660K(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAACCCAGACGAGGCAAGTTA	0.577																																					p.E660K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1978A	12						.						37.0	36.0	36.0					12																	109623543		2203	4300	6503	108107926	SO:0001583	missense	32	exon11			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1978G>A	12.37:g.109623543G>A	ENSP00000341044:p.Glu660Lys	Somatic		Capture	Illumina HiSeq	Phase_I	108107926	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581514	0.86748	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.80566	-1.39;-1.39;-1.39	5.13	5.13	0.70059	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.048263	0.85682	D	0.000000	D	0.85948	0.5816	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87449	0.2400	10	0.87932	D	0	.	18.5465	0.91048	0.0:0.0:1.0:0.0	.	660	O00763	ACACB_HUMAN	K	660	ENSP00000341044:E660K;ENSP00000367079:E660K;ENSP00000367085:E660K	ENSP00000341044:E660K	E	+	1	0	ACACB	108107926	1.000000	0.71417	0.995000	0.50966	0.349000	0.29174	9.837000	0.99465	2.558000	0.86282	0.561000	0.74099	GAG		0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
MYO1H	283446	broad.mit.edu	37	12	109834288	109834288	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109834288C>A	ENST00000431443.2	+	3	342	c.342C>A	c.(340-342)gcC>gcA	p.A114A	MYO1H_ENST00000310903.5_Silent_p.A114A	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	114	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A114A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACAGAGGCCTCCAAGAAAA	0.493																																					p.A114A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C342A	12						.						67.0	68.0	68.0					12																	109834288		1912	4122	6034	108318671	SO:0001819	synonymous_variant	283446	exon3				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.342C>A	12.37:g.109834288C>A		Somatic		Capture	Illumina HiSeq	Phase_I	108318671	NM_001101421	F5H3C6	Silent	SNP	ENST00000431443.2	37																																																																																					0.493	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
TCHP	84260	broad.mit.edu	37	12	110345348	110345348	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110345348G>T	ENST00000312777.5	+	6	757	c.543G>T	c.(541-543)gaG>gaT	p.E181D	TCHP_ENST00000405876.4_Missense_Mutation_p.E181D	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding									p.E181D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CCACCGCAGAGCAAGAGAACA	0.512																																					p.E181D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	12						.						86.0	98.0	94.0					12																	110345348		2203	4300	6503	108829731	SO:0001583	missense	84260	exon6			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.543G>T	12.37:g.110345348G>T	ENSP00000324404:p.Glu181Asp	Somatic		Capture	Illumina HiSeq	Phase_I	108829731	NM_001143852		Missense_Mutation	SNP	ENST00000312777.5	37	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	5.281	0.237247	0.10023	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777	T;T	0.10192	2.9;2.9	4.95	4.05	0.47172	.	0.408925	0.27572	N	0.018769	T	0.05318	0.0141	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38286	-0.9668	10	0.16420	T	0.52	-6.215	7.5084	0.27558	0.093:0.1663:0.7407:0.0	.	181	Q9BT92	TCHP_HUMAN	D	181	ENSP00000384520:E181D;ENSP00000324404:E181D	ENSP00000324404:E181D	E	+	3	2	TCHP	108829731	1.000000	0.71417	0.034000	0.17996	0.004000	0.04260	1.819000	0.39022	2.313000	0.78055	0.505000	0.49811	GAG		0.512	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300	
GIT2	9815	broad.mit.edu	37	12	110385126	110385126	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110385126G>T	ENST00000355312.3	-	15	1575	c.1576C>A	c.(1576-1578)Ctc>Atc	p.L526I	GIT2_ENST00000338373.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.L446I|GIT2_ENST00000457474.2_Missense_Mutation_p.L478I|GIT2_ENST00000360185.4_Missense_Mutation_p.L476I|GIT2_ENST00000551209.1_Missense_Mutation_p.L475I|GIT2_ENST00000361006.5_Missense_Mutation_p.L526I|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.L478I|GIT2_ENST00000547815.1_Intron|GIT2_ENST00000356259.4_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	526					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L526I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCCATTGGGAGATATGGTTTC	0.577																																					p.L478I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1432A	12						.						97.0	91.0	93.0					12																	110385126		2203	4300	6503	108869509	SO:0001583	missense	9815	exon15			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1576C>A	12.37:g.110385126G>T	ENSP00000347464:p.Leu526Ile	Somatic		Capture	Illumina HiSeq	Phase_I	108869509	NM_001135213	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099465	0.76983	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73789	-0.62;-0.67;-0.75;-0.78;-0.72;-0.64;-0.7	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.63428	1.95	0.80722	D	1	P;P;P;P;P	0.45428	0.835;0.835;0.858;0.57;0.551	P;P;B;B;P	0.50708	0.648;0.648;0.41;0.25;0.535	T	0.74256	-0.3724	10	0.21014	T	0.42	.	19.4182	0.94710	0.0:0.0:1.0:0.0	.	478;478;526;464;526	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	I	526;476;478;446;478;526;475;464	ENSP00000347464:L526I;ENSP00000353312:L476I;ENSP00000346585:L478I;ENSP00000340938:L446I;ENSP00000391813:L478I;ENSP00000354282:L526I;ENSP00000448832:L475I	ENSP00000340938:L446I	L	-	1	0	GIT2	108869509	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.238000	0.95380	2.834000	0.97654	0.557000	0.71058	CTC		0.577	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
ANKRD13A	88455	broad.mit.edu	37	12	110467370	110467370	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110467370G>A	ENST00000261739.4	+	11	1330	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	388						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.T388T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGGCTCGAACGAGTGCTCATT	0.423																																					p.T388T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1164A	12						.						130.0	118.0	122.0					12																	110467370		2203	4300	6503	108951753	SO:0001819	synonymous_variant	88455	exon11			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1164G>A	12.37:g.110467370G>A		Somatic		Capture	Illumina HiSeq	Phase_I	108951753	NM_033121	O60736	Silent	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	G	8.975	0.973891	0.18736	.	.	ENSG00000076513	ENST00000547639	.	.	.	6.02	-12.0	0.00017	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52185	-0.8609	4	.	.	.	-17.1657	6.2053	0.20600	0.257:0.4705:0.1335:0.139	.	.	.	.	Q	241	.	.	R	+	2	0	ANKRD13A	108951753	0.000000	0.05858	0.167000	0.22817	0.995000	0.86356	-2.209000	0.01228	-2.743000	0.00378	-0.266000	0.10368	CGA		0.423	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ANAPC7	51434	broad.mit.edu	37	12	110819603	110819603	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110819603A>G	ENST00000455511.3	-	8	1188	c.1188T>C	c.(1186-1188)ttT>ttC	p.F396F	ANAPC7_ENST00000450008.2_Silent_p.F396F|ANAPC7_ENST00000481473.1_5'Flank	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	396					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.F362F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TGGCCTCCCGAAAGTGGATTA	0.488																																					p.F396F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1188C	12						.						118.0	97.0	104.0					12																	110819603		2203	4300	6503	109303986	SO:0001819	synonymous_variant	51434	exon8			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1188T>C	12.37:g.110819603A>G		Somatic		Capture	Illumina HiSeq	Phase_I	109303986	NM_001137664	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362786	0.24684	.	.	ENSG00000196510	ENST00000552087	.	.	.	6.04	-0.418	0.12344	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60687	-0.7214	4	.	.	.	-14.8872	12.6524	0.56768	0.3948:0.0:0.6052:0.0	.	.	.	.	P	21	.	.	S	-	1	0	ANAPC7	109303986	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.978000	0.40598	-0.245000	0.09625	0.459000	0.35465	TCG		0.488	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
FAM216A	29902	broad.mit.edu	37	12	110924180	110924180	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110924180A>C	ENST00000377673.5	+	4	869	c.357A>C	c.(355-357)aaA>aaC	p.K119N		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	119								p.K119N(1)									GCATTGCTAAAATCTATAATG	0.433																																					p.K119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A357C	12						.						75.0	65.0	68.0					12																	110924180		2203	4300	6503	109408563	SO:0001583	missense	29902	exon4			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.357A>C	12.37:g.110924180A>C	ENSP00000366901:p.Lys119Asn	Somatic		Capture	Illumina HiSeq	Phase_I	109408563	NM_013300	A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983130	0.34942	.	.	ENSG00000204856	ENST00000377673;ENST00000538285;ENST00000548869	T	0.54279	0.58	3.9	2.99	0.34606	.	0.000000	0.40640	N	0.001060	T	0.60405	0.2266	L	0.45581	1.43	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.943;0.994;0.994	T	0.60100	-0.7329	10	0.66056	D	0.02	-16.2238	6.9427	0.24502	0.1327:0.0:0.8673:0.0	.	119;119;119	B4DJX7;F5GZE4;Q8WUB2	.;.;CL024_HUMAN	N	119;119;25	ENSP00000366901:K119N	ENSP00000366901:K119N	K	+	3	2	C12orf24	109408563	0.986000	0.35501	0.992000	0.48379	0.163000	0.22366	0.664000	0.25068	0.944000	0.37579	-0.456000	0.05471	AAA		0.433	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300	
TAS2R13	50838	broad.mit.edu	37	12	11061425	11061425	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:11061425C>T	ENST00000390677.2	-	1	736	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	158					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.R158Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTTCATATCGGTCCAGCCA	0.338																																					p.R158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	12						.						80.0	84.0	83.0					12																	11061425		2203	4300	6503	10952692	SO:0001583	missense	50838	exon1			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.473G>A	12.37:g.11061425C>T	ENSP00000375095:p.Arg158Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10952692	NM_023920	Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	C	7.800	0.713445	0.15306	.	.	ENSG00000212128	ENST00000390677	T	0.36699	1.24	3.3	-6.6	0.01824	.	1.584420	0.04579	N	0.394688	T	0.14743	0.0356	N	0.05592	-0.015	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12426	-1.0548	10	0.31617	T	0.26	.	2.7614	0.05307	0.1524:0.4381:0.255:0.1545	.	158	Q9NYV9	T2R13_HUMAN	Q	158	ENSP00000375095:R158Q	ENSP00000375095:R158Q	R	-	2	0	TAS2R13	10952692	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.487000	0.00977	-1.977000	0.00994	-1.058000	0.02302	CGA		0.338	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1		
RAD9B	144715	broad.mit.edu	37	12	110952939	110952939	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:110952939G>T	ENST00000392672.4	+	6	672	c.573G>T	c.(571-573)aaG>aaT	p.K191N	RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409300.1_Missense_Mutation_p.K191N|RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000409425.1_Missense_Mutation_p.K119N|RAD9B_ENST00000409246.1_Missense_Mutation_p.K119N	NM_152442.3	NP_689655.3	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	188					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)		p.K33N(1)|p.K191N(1)		endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TTTGCCTCAAGAGTTCTAATG	0.348																																					p.K191N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G573T	12						.						108.0	97.0	101.0					12																	110952939		2195	4278	6473	109437322	SO:0001583	missense	144715	exon6				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000392672.4:c.573G>T	12.37:g.110952939G>T	ENSP00000376440:p.Lys191Asn	Somatic		Capture	Illumina HiSeq	Phase_I	109437322	NM_152442	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000392672.4	37	CCDS9148.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081377	0.76528	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.49	5.49	0.81192	.	0.112579	0.64402	D	0.000016	T	0.50326	0.1609	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.52815	-0.8525	10	0.72032	D	0.01	-12.7477	11.6091	0.51049	0.0828:0.0:0.9172:0.0	.	191;188	B4DX60;Q6WBX8	.;RAD9B_HUMAN	N	119;191;191;119	ENSP00000387329:K119N;ENSP00000376440:K191N;ENSP00000386434:K191N;ENSP00000386629:K119N	ENSP00000376440:K191N	K	+	3	2	RAD9B	109437322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.281000	0.51685	2.583000	0.87209	0.591000	0.81541	AAG		0.348	RAD9B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328756.2	NM_152442	
MYL2	4633	broad.mit.edu	37	12	111350922	111350922	+	Missense_Mutation	SNP	G	G	A	rs141878747		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:111350922G>A	ENST00000228841.8	-	6	427	c.380C>T	c.(379-381)gCg>gTg	p.A127V	MYL2_ENST00000548438.1_Missense_Mutation_p.A113V	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	127	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.A127V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AAACCTCTCCGCCTGCGTGGT	0.597																																					p.A127V	GBM(14;268 426 18829 21617 25540)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	12						.		VAL/ALA	0,4406		0,0,2203	103.0	102.0	102.0		380	5.1	0.9	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL2	NM_000432.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	127/167	111350922	1,13005	2203	4300	6503	109835305	SO:0001583	missense	4633	exon6				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.380C>T	12.37:g.111350922G>A	ENSP00000228841:p.Ala127Val	Somatic		Capture	Illumina HiSeq	Phase_I	109835305	NM_000432	Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911880	0.52439	0.0	1.16E-4	ENSG00000111245	ENST00000228841;ENST00000548438;ENST00000550439	T;T	0.78924	-1.22;-1.22	5.09	5.09	0.68999	EF-hand-like domain (1);	0.048838	0.85682	D	0.000000	T	0.76307	0.3969	M	0.69823	2.125	0.52099	D	0.999941	B	0.25441	0.126	B	0.22880	0.042	T	0.76263	-0.3023	10	0.62326	D	0.03	.	13.6584	0.62352	0.0:0.1565:0.8435:0.0	.	127	P10916	MLRV_HUMAN	V	127;113;108	ENSP00000228841:A127V;ENSP00000447154:A113V	ENSP00000228841:A127V	A	-	2	0	MYL2	109835305	1.000000	0.71417	0.939000	0.37840	0.707000	0.40811	6.862000	0.75484	2.365000	0.80145	0.651000	0.88453	GCG		0.597	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432	
CUX2	23316	broad.mit.edu	37	12	111786110	111786110	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:111786110C>A	ENST00000261726.6	+	22	4596	c.4442C>A	c.(4441-4443)gCc>gAc	p.A1481D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1481					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A1481D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGGGAGGAGGCCCTGGAGTGG	0.562																																					p.A1481D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4442A	12						.						57.0	64.0	62.0					12																	111786110		1995	4153	6148	110270493	SO:0001583	missense	23316	exon22			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4442C>A	12.37:g.111786110C>A	ENSP00000261726:p.Ala1481Asp	Somatic		Capture	Illumina HiSeq	Phase_I	110270493	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060125	0.76074	.	.	ENSG00000111249	ENST00000261726	T	0.50001	0.76	5.21	4.31	0.51392	.	0.125564	0.53938	D	0.000054	T	0.43765	0.1262	L	0.54323	1.7	0.34242	D	0.677766	P	0.46395	0.877	B	0.39299	0.296	T	0.62982	-0.6738	10	0.66056	D	0.02	-15.6117	13.8709	0.63617	0.0:0.9243:0.0:0.0757	.	1481	O14529	CUX2_HUMAN	D	1481	ENSP00000261726:A1481D	ENSP00000261726:A1481D	A	+	2	0	CUX2	110270493	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	4.060000	0.57477	1.165000	0.42670	0.563000	0.77884	GCC		0.562	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
ACAD10	80724	broad.mit.edu	37	12	112121077	112121077	+	5'Flank	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112121077C>T	ENST00000313698.4	+	0	0				ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000392636.2_5'Flank|BRAP_ENST00000539060.1_5'Flank|BRAP_ENST00000327551.6_Silent_p.T9T|ACAD10_ENST00000455480.2_5'Flank|BRAP_ENST00000419234.4_Silent_p.T39T	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.T39T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGCTAGTGTCGTCTTTTTTA	0.433																																					p.T39T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G117A	12						.						218.0	187.0	197.0					12																	112121077		2203	4300	6503	110605460	SO:0001631	upstream_gene_variant	8315	exon2			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112121077C>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	110605460	NM_006768	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.433	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
NAA25	80018	broad.mit.edu	37	12	112479863	112479863	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112479863G>T	ENST00000261745.4	-	20	2668	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	807						cytoplasm (GO:0005737)		p.S807Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCTAGTAAAGACTTAAAACT	0.303																																					p.S807Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2420A	12						.						87.0	81.0	83.0					12																	112479863		2189	4296	6485	110964246	SO:0001583	missense	80018	exon20			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2420C>A	12.37:g.112479863G>T	ENSP00000261745:p.Ser807Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	110964246	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871600	0.72065	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.26810	1.71	5.9	4.01	0.46588	.	0.055490	0.85682	N	0.000000	T	0.29914	0.0748	L	0.34521	1.04	0.50171	D	0.999856	D	0.56521	0.976	P	0.51016	0.656	T	0.04216	-1.0968	10	0.87932	D	0	-5.39	14.2813	0.66213	0.0:0.0:0.7282:0.2718	.	807	Q14CX7	NAA25_HUMAN	Y	807;13	ENSP00000261745:S807Y	ENSP00000261745:S807Y	S	-	2	0	NAA25	110964246	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.520000	0.67080	0.770000	0.33336	0.655000	0.94253	TCT		0.303	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
NAA25	80018	broad.mit.edu	37	12	112512534	112512534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112512534C>T	ENST00000261745.4	-	9	1059	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	271						cytoplasm (GO:0005737)		p.D271N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGACAGAATCGAAATAAGTC	0.398																																					p.D271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	12						.						103.0	101.0	102.0					12																	112512534		2203	4300	6503	110996917	SO:0001583	missense	80018	exon9			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.811G>A	12.37:g.112512534C>T	ENSP00000261745:p.Asp271Asn	Somatic		Capture	Illumina HiSeq	Phase_I	110996917	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172093	0.94807	.	.	ENSG00000111300	ENST00000261745	T	0.46819	0.86	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.51748	-0.8666	10	0.23302	T	0.38	-19.6242	19.4261	0.94741	0.0:1.0:0.0:0.0	.	271;271	A8K8X0;Q14CX7	.;NAA25_HUMAN	N	271	ENSP00000261745:D271N	ENSP00000261745:D271N	D	-	1	0	NAA25	110996917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.384000	0.79751	2.667000	0.90743	0.655000	0.94253	GAT		0.398	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
HECTD4	283450	broad.mit.edu	37	12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112600941C>T	ENST00000430131.2	-	74	12904	c.11759G>A	c.(11758-11760)cGc>cAc	p.R3920H	HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4196H|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3920	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612																																					p.R4170H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12509A	12						.						97.0	110.0	106.0					12																	112600941		2080	4205	6285	111085324	SO:0001583	missense	283450	exon74			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11759G>A	12.37:g.112600941C>T	ENSP00000404379:p.Arg3920His	Somatic		Capture	Illumina HiSeq	Phase_I	111085324	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.491109	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85041	0.0923	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	3920	Q9Y4D8	K0614_HUMAN	H	4170;3920;4196;385	ENSP00000366783:R4170H;ENSP00000404379:R3920H;ENSP00000449784:R4196H	ENSP00000366783:R4170H	R	-	2	0	C12orf51	111085324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.758000	0.94735	0.561000	0.74099	CGC		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
HECTD4	283450	broad.mit.edu	37	12	112688090	112688090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112688090C>A	ENST00000430131.2	-	24	3687	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E1098*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E1124*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	848					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E848*(1)|p.E1098*(1)									TAGGTGAATTCTCTGTCTTCC	0.557																																					p.E1098X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3292T	12						.						132.0	123.0	126.0					12																	112688090		2203	4300	6503	111172473	SO:0001587	stop_gained	283450	exon24			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2542G>T	12.37:g.112688090C>A	ENSP00000404379:p.Glu848*	Somatic		Capture	Illumina HiSeq	Phase_I	111172473	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	49	15.603094	0.99839	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4789	0.95000	0.0:1.0:0.0:0.0	.	.	.	.	X	1098;848;1124	.	ENSP00000366783:E1098X	E	-	1	0	C12orf51	111172473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.388000	0.79795	2.694000	0.91930	0.555000	0.69702	GAA		0.557	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RPL6	6128	broad.mit.edu	37	12	112844629	112844629	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:112844629A>G	ENST00000424576.2	-	4	587	c.402T>C	c.(400-402)agT>agC	p.S134S	RPL6_ENST00000202773.9_Silent_p.S134S	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	134					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S134S(1)		cervix(1)|large_intestine(6)|lung(3)	10						TCACGTGCTGACTGAAGGGTT	0.502																																					p.S134S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T402C	12						.						50.0	46.0	48.0					12																	112844629		2203	4297	6500	111329012	SO:0001819	synonymous_variant	6128	exon4			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.402T>C	12.37:g.112844629A>G		Somatic		Capture	Illumina HiSeq	Phase_I	111329012	NM_001024662	Q2M3Q3|Q8WW97	Silent	SNP	ENST00000424576.2	37	CCDS9162.1																																																																																				0.502	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1		
RPH3A	22895	broad.mit.edu	37	12	113303310	113303310	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113303310C>T	ENST00000389385.4	+	6	819	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	RPH3A_ENST00000548866.1_Silent_p.L59L|RPH3A_ENST00000551052.1_Silent_p.L104L|RPH3A_ENST00000447659.2_Silent_p.L59L|RPH3A_ENST00000415485.3_Silent_p.L108L|RPH3A_ENST00000543106.2_Silent_p.L108L|RPH3A_ENST00000420983.2_Silent_p.L108L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	108	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.L104L(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCTGGGGATGCTGGGCTCTGC	0.552																																					p.L108L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C322T	12						.						181.0	160.0	167.0					12																	113303310		2203	4300	6503	111787693	SO:0001819	synonymous_variant	22895	exon6			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.322C>T	12.37:g.113303310C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111787693	NM_001143854	B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	CCDS44979.1																																																																																				0.552	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
OAS1	4938	broad.mit.edu	37	12	113346601	113346601	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113346601C>T	ENST00000202917.5	+	2	704	c.441C>T	c.(439-441)ttC>ttT	p.F147F	OAS1_ENST00000445409.2_Silent_p.F147F|OAS1_ENST00000452357.2_Silent_p.F147F|OAS1_ENST00000551241.1_Silent_p.F147F|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Silent_p.F147F	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	147					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.F147F(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGGTGGAGTTCGATGTGCTGC	0.567																																					p.F147F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C441T	12						.						92.0	84.0	87.0					12																	113346601		2203	4300	6503	111830984	SO:0001819	synonymous_variant	4938	exon2			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.441C>T	12.37:g.113346601C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111830984	NM_001032409	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Silent	SNP	ENST00000202917.5	37	CCDS41838.1																																																																																				0.567	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
OAS2	4939	broad.mit.edu	37	12	113433253	113433253	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113433253C>A	ENST00000342315.4	+	3	815	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	OAS2_ENST00000392583.2_Missense_Mutation_p.L201I|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	201	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.L201I(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGATTTGATCCTCTTGATAAA	0.388																																					p.L201I	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601A	12						.						87.0	84.0	85.0					12																	113433253		2203	4300	6503	111917636	SO:0001583	missense	4939	exon3			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.601C>A	12.37:g.113433253C>A	ENSP00000342278:p.Leu201Ile	Somatic		Capture	Illumina HiSeq	Phase_I	111917636	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874435	0.33069	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.46819	0.86;0.86;0.86	3.98	3.98	0.46160	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.772820	0.04131	U	0.317998	T	0.60038	0.2238	M	0.80746	2.51	0.80722	D	1	P;P	0.44139	0.827;0.75	P;B	0.45946	0.498;0.292	T	0.55554	-0.8123	10	0.29301	T	0.29	-32.7708	11.3952	0.49838	0.0:1.0:0.0:0.0	.	201;201	P29728;P29728-2	OAS2_HUMAN;.	I	201;201;126	ENSP00000342278:L201I;ENSP00000376362:L201I;ENSP00000446977:L126I	ENSP00000342278:L201I	L	+	1	0	OAS2	111917636	0.985000	0.35326	0.947000	0.38551	0.812000	0.45895	2.372000	0.44257	2.046000	0.60703	0.467000	0.42956	CTC		0.388	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
OAS2	4939	broad.mit.edu	37	12	113442985	113442985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113442985G>A	ENST00000342315.4	+	7	1640	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	OAS2_ENST00000392583.2_Missense_Mutation_p.E476K|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	476	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E476K(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTCCTCAACGAAAGTGTCAG	0.532																																					p.E476K	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1426A	12						.						92.0	74.0	80.0					12																	113442985		2203	4300	6503	111927368	SO:0001583	missense	4939	exon7			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1426G>A	12.37:g.113442985G>A	ENSP00000342278:p.Glu476Lys	Somatic		Capture	Illumina HiSeq	Phase_I	111927368	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455416	0.43634	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08634	3.07;3.07	4.43	2.54	0.30619	.	0.000000	0.39475	U	0.001358	T	0.18130	0.0435	M	0.74546	2.27	0.09310	N	0.999999	D;D	0.69078	0.994;0.997	P;P	0.57720	0.598;0.826	T	0.04579	-1.0941	10	0.44086	T	0.13	-14.9941	5.7402	0.18089	0.1079:0.2002:0.692:0.0	.	476;476	P29728;P29728-2	OAS2_HUMAN;.	K	476	ENSP00000342278:E476K;ENSP00000376362:E476K	ENSP00000342278:E476K	E	+	1	0	OAS2	111927368	0.012000	0.17670	0.003000	0.11579	0.066000	0.16364	0.918000	0.28678	0.576000	0.29452	0.655000	0.94253	GAA		0.532	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
DTX1	1840	broad.mit.edu	37	12	113515344	113515344	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113515344C>A	ENST00000257600.3	+	2	878	c.375C>A	c.(373-375)atC>atA	p.I125I		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	125	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I125I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATATGGACATCTGCATCACCA	0.607																																					p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375A	12						.						109.0	83.0	92.0					12																	113515344		2203	4300	6503	111999727	SO:0001819	synonymous_variant	1840	exon2			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.375C>A	12.37:g.113515344C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111999727	NM_004416	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																				0.607	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
RASAL1	8437	broad.mit.edu	37	12	113559442	113559442	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113559442C>T	ENST00000261729.5	-	6	615	c.300G>A	c.(298-300)ggG>ggA	p.G100G	RASAL1_ENST00000446861.3_Splice_Site_p.G100G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Splice_Site_p.G100G|RASAL1_ENST00000548055.1_Splice_Site_p.G100G			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	100					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.G100G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGTCAATCCCTGAAGGGC	0.453																																					p.G100G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	12						.						79.0	59.0	66.0					12																	113559442		2203	4300	6503	112043825	SO:0001630	splice_region_variant	8437	exon6			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.299-1G>A	12.37:g.113559442C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112043825	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	CCDS9165.1																																																																																				0.453	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	Silent
TPCN1	53373	broad.mit.edu	37	12	113724816	113724816	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113724816C>T	ENST00000335509.6	+	19	1865	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	TPCN1_ENST00000541517.1_Silent_p.F589F|TPCN1_ENST00000550785.1_Silent_p.F589F|TPCN1_ENST00000392569.4_Silent_p.F449F	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	517					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.F517F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGACAGTGTTCGCCTTCCTGG	0.642																																					p.F589F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1767T	12						.						209.0	164.0	179.0					12																	113724816		2203	4300	6503	112209199	SO:0001819	synonymous_variant	53373	exon20			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1551C>T	12.37:g.113724816C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112209199	NM_001143819	A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	7.700	0.692814	0.15039	.	.	ENSG00000186815	ENST00000546781	.	.	.	5.59	-7.19	0.01500	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59511	-0.7441	4	.	.	.	-16.2781	11.7841	0.52032	0.0:0.1768:0.161:0.6622	.	.	.	.	C	186	.	.	R	+	1	0	TPCN1	112209199	0.012000	0.17670	0.025000	0.17156	0.859000	0.49053	-1.141000	0.03207	-1.199000	0.02666	-1.246000	0.01523	CGC		0.642	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
PRB4	5545	broad.mit.edu	37	12	11461396	11461396	+	Missense_Mutation	SNP	C	C	T	rs374921001		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:11461396C>T	ENST00000535904.1	-	3	554	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.R174Q			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	195	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.R174Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCGGGCACTTCGGGACTTGTT	0.597										HNSCC(22;0.051)																											p.R174Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G521A	12						.						181.0	197.0	192.0					12																	11461396		2203	4300	6503	11352663	SO:0001583	missense	5545	exon3				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.521G>A	12.37:g.11461396C>T	ENSP00000442834:p.Arg174Gln	Somatic		Capture	Illumina HiSeq	Phase_I	11352663	NM_002723	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.939463	0.00484	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.03920	3.76;3.76	0.714	-0.257	0.12979	.	.	.	.	.	T	0.01454	0.0047	N	0.01168	-0.975	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.48445	-0.9035	8	0.13108	T	0.6	.	.	.	.	.	174	E9PAL0	.	Q	174	ENSP00000279575:R174Q;ENSP00000442834:R174Q	ENSP00000279575:R174Q	R	-	2	0	PRB4	11352663	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.327000	0.07955	-0.277000	0.09193	-1.126000	0.01995	CGA		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
PRB2	653247	broad.mit.edu	37	12	11545892	11545892	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:11545892C>A	ENST00000389362.4	-	3	1155	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	374						extracellular region (GO:0005576)		p.G374C(1)|p.G353C(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGATTGTTGCCTTCTTGTTGG	0.627																																					p.G374C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1120T	12						.						99.0	111.0	107.0					12																	11545892		2201	4282	6483	11437159	SO:0001583	missense	653247	exon3			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1120G>T	12.37:g.11545892C>A	ENSP00000374013:p.Gly374Cys	Somatic		Capture	Illumina HiSeq	Phase_I	11437159	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.840	0.339277	0.11069	.	.	ENSG00000121335	ENST00000389362	T	0.05139	3.49	1.26	0.219	0.15274	.	.	.	.	.	T	0.07818	0.0196	M	0.75085	2.285	0.09310	N	1	B	0.31730	0.337	B	0.26310	0.068	T	0.26467	-1.0102	9	0.62326	D	0.03	.	4.8111	0.13344	0.0:0.7435:0.0:0.2565	.	374	P02812	PRB2_HUMAN	C	374	ENSP00000374013:G374C	ENSP00000374013:G374C	G	-	1	0	PRB2	11437159	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.223000	0.09177	0.577000	0.29470	0.194000	0.17425	GGC		0.627	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
SLC8B1	80024	broad.mit.edu	37	12	113759111	113759111	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:113759111A>C	ENST00000552014.1	-	4	714	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	SLC8B1_ENST00000546737.1_Missense_Mutation_p.F67V|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.F67V			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	67					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.F67V(1)									GTCCGGATGAAGTCACAGCGG	0.592																																					p.F67V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T199G	12						.						194.0	182.0	186.0					12																	113759111		2203	4300	6503	112243494	SO:0001583	missense	80024	exon3			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.199T>G	12.37:g.113759111A>C	ENSP00000447091:p.Phe67Val	Somatic		Capture	Illumina HiSeq	Phase_I	112243494	NM_024959	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252317	0.59212	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186;ENST00000549372	T;T;T;T	0.64991	-0.09;-0.09;-0.13;1.64	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.82952	-0.0202	10	0.54805	T	0.06	.	14.5129	0.67800	1.0:0.0:0.0:0.0	.	67	Q6J4K2	NCKX6_HUMAN	V	67	ENSP00000447091:F67V;ENSP00000202831:F67V;ENSP00000450081:F67V;ENSP00000448703:F67V	ENSP00000202831:F67V	F	-	1	0	SLC24A6	112243494	1.000000	0.71417	0.791000	0.31998	0.153000	0.21895	8.013000	0.88655	1.831000	0.53308	0.454000	0.30748	TTC		0.592	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	
MED13L	23389	broad.mit.edu	37	12	116421009	116421009	+	Missense_Mutation	SNP	G	G	A	rs201484832		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:116421009G>A	ENST00000281928.3	-	21	5074	c.4868C>T	c.(4867-4869)gCg>gTg	p.A1623V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1623						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1623V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTTCTATCCGCAGAAATGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17761	0.0		0.001	False		,,,				2504	0.0				p.A1623V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4868T	12						.						95.0	94.0	94.0					12																	116421009		2203	4300	6503	114905392	SO:0001583	missense	23389	exon21			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4868C>T	12.37:g.116421009G>A	ENSP00000281928:p.Ala1623Val	Somatic		Capture	Illumina HiSeq	Phase_I	114905392	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.87|10.87	1.473117|1.473117	0.26423|0.26423	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000549786	T|.	0.74106|.	-0.81|.	5.65|5.65	4.76|4.76	0.60689|0.60689	.|.	0.683124|.	0.15344|.	N|.	0.267325|.	T|T	0.31575|0.31575	0.0801|0.0801	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.19877|0.19877	-1.0292|-1.0292	10|5	0.31617|.	T|.	0.26|.	.|.	10.6848|10.6848	0.45837|0.45837	0.1436:0.0:0.8564:0.0|0.1436:0.0:0.8564:0.0	.|.	1623|.	Q71F56|.	MD13L_HUMAN|.	V|W	1623|78	ENSP00000281928:A1623V|.	ENSP00000281928:A1623V|.	A|R	-|-	2|1	0|2	MED13L|MED13L	114905392|114905392	0.669000|0.669000	0.27502|0.27502	0.034000|0.034000	0.17996|0.17996	0.181000|0.181000	0.23173|0.23173	2.148000|2.148000	0.42235|0.42235	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.532	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
MAP1LC3B2	643246	broad.mit.edu	37	12	117013857	117013857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:117013857G>A	ENST00000556529.1	+	1	202	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.R37Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	37					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)		p.R37Q(1)		breast(1)|large_intestine(2)|lung(3)	6						ATAATAGAACGATACAAGGGT	0.458																																					p.R37Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	12						.						161.0	155.0	157.0					12																	117013857		2203	4300	6503	115498240	SO:0001583	missense	643246	exon2				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.110G>A	12.37:g.117013857G>A	ENSP00000450524:p.Arg37Gln	Somatic		Capture	Illumina HiSeq	Phase_I	115498240	NM_001085481		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	g	18.95	3.731380	0.69189	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.49720	0.77;0.77	2.39	1.39	0.22231	.	0.000000	0.85682	U	0.000000	T	0.69762	0.3147	M	0.91459	3.21	0.42742	D	0.993743	D	0.89917	1.0	D	0.76575	0.988	T	0.71421	-0.4598	10	0.87932	D	0	-31.6049	8.5253	0.33302	0.0:0.2429:0.7571:0.0	.	37	A6NCE7	MP3B2_HUMAN	Q	37	ENSP00000305059:R37Q;ENSP00000450524:R37Q	ENSP00000305059:R37Q	R	+	2	0	MAP1LC3B2	115498240	1.000000	0.71417	0.738000	0.30950	0.836000	0.47400	6.560000	0.73950	0.303000	0.22785	0.375000	0.23000	CGA		0.458	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481	
NOS1	4842	broad.mit.edu	37	12	117664496	117664496	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:117664496G>A	ENST00000338101.4	-	24	3802	c.3798C>T	c.(3796-3798)ttC>ttT	p.F1266F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.F1232F			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	56					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F1232F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACCCTCTCACGAAACAGGGGA	0.488																																					p.F1232F	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3696T	12						.						89.0	91.0	90.0					12																	117664496		1980	4153	6133	116148879	SO:0001819	synonymous_variant	4842	exon24				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3798C>T	12.37:g.117664496G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116148879	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.488	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117749309	117749309	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:117749309G>A	ENST00000338101.4	-	2	818	c.814C>T	c.(814-816)Cct>Tct	p.P272S	NOS1_ENST00000344089.3_Missense_Mutation_p.P272S|NOS1_ENST00000317775.6_Missense_Mutation_p.P272S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P272S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGGACGACAGGCACATTGCCC	0.557																																					p.P272S	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814T	12						.						74.0	73.0	73.0					12																	117749309		2017	4191	6208	116233692	SO:0001583	missense	4842	exon3				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.814C>T	12.37:g.117749309G>A	ENSP00000337459:p.Pro272Ser	Somatic		Capture	Illumina HiSeq	Phase_I	116233692	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893356	0.72524	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.09630	4.95;2.96;4.93	5.65	5.65	0.86999	.	0.055042	0.85682	D	0.000000	T	0.14356	0.0347	M	0.65498	2.005	0.44555	D	0.997518	P	0.44986	0.847	B	0.39185	0.293	T	0.03221	-1.1059	10	0.29301	T	0.29	-19.873	15.2221	0.73320	0.0:0.0:1.0:0.0	.	272	P29475	NOS1_HUMAN	S	272	ENSP00000320758:P272S;ENSP00000339862:P272S;ENSP00000337459:P272S	ENSP00000320758:P272S	P	-	1	0	NOS1	116233692	1.000000	0.71417	0.150000	0.22450	0.858000	0.48976	5.850000	0.69473	2.657000	0.90304	0.561000	0.74099	CCT		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117768725	117768725	+	Silent	SNP	G	G	A	rs41459647		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:117768725G>A	ENST00000338101.4	-	1	154	c.150C>T	c.(148-150)ggC>ggT	p.G50G	NOS1_ENST00000344089.3_Silent_p.G50G|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Silent_p.G50G			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Essential for its translational repressor activity. {ECO:0000250}.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.G50G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTCTGCGGCGCCCCCACGAA	0.612																																					p.G50G	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150T	12						.						40.0	43.0	42.0					12																	117768725		1941	4142	6083	116253108	SO:0001819	synonymous_variant	4842	exon2				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.150C>T	12.37:g.117768725G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116253108	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
TAOK3	51347	broad.mit.edu	37	12	118682724	118682724	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:118682724G>T	ENST00000392533.3	-	4	657	c.167C>A	c.(166-168)tCc>tAc	p.S56Y	TAOK3_ENST00000419821.2_Missense_Mutation_p.S56Y	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.S56Y(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACTATAGGACATCTTCTT	0.398																																					p.S56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C167A	12						.						163.0	154.0	157.0					12																	118682724		2203	4300	6503	117167107	SO:0001583	missense	51347	exon4			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.167C>A	12.37:g.118682724G>T	ENSP00000376317:p.Ser56Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	117167107	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619908	0.87460	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.04	5.04	0.67666	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	0.77651	0.4162	L	0.46885	1.475	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.79669	-0.1707	10	0.87932	D	0	.	18.5834	0.91180	0.0:0.0:1.0:0.0	.	56	Q9H2K8	TAOK3_HUMAN	Y	56	ENSP00000416374:S56Y;ENSP00000376317:S56Y;ENSP00000443465:S56Y;ENSP00000438820:S56Y;ENSP00000444057:S56Y;ENSP00000440315:S56Y	ENSP00000376317:S56Y	S	-	2	0	TAOK3	117167107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.609000	0.88269	0.591000	0.81541	TCC		0.398	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
CCDC64	92558	broad.mit.edu	37	12	120499602	120499602	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:120499602T>G	ENST00000397558.2	+	3	734	c.734T>G	c.(733-735)aTt>aGt	p.I245S	CCDC64_ENST00000446727.2_5'Flank	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	245					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.I245S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCAGCACATTATCCGGCTG	0.527																																					p.I245S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T734G	12						.						50.0	49.0	49.0					12																	120499602		1891	4125	6016	118983985	SO:0001583	missense	92558	exon3			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.734T>G	12.37:g.120499602T>G	ENSP00000380690:p.Ile245Ser	Somatic		Capture	Illumina HiSeq	Phase_I	118983985	NM_207311	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549151	0.86127	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.06142	3.34	5.95	5.95	0.96441	.	0.281485	0.36555	N	0.002536	T	0.06005	0.0156	N	0.19112	0.55	0.80722	D	1	P	0.48694	0.914	B	0.41988	0.372	T	0.53472	-0.8434	10	0.24483	T	0.36	-11.951	16.4069	0.83677	0.0:0.0:0.0:1.0	.	245	Q6ZP65	BICR1_HUMAN	S	226;245	ENSP00000380690:I245S	ENSP00000349605:I226S	I	+	2	0	CCDC64	118983985	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.875000	0.75551	2.272000	0.75746	0.460000	0.39030	ATT		0.527	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
ETV6	2120	broad.mit.edu	37	12	12037474	12037474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:12037474C>T	ENST00000396373.4	+	6	1379	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R369W(2)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAAAATATTCCGGATAGTGGA	0.458			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																p.R369W			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1105T	12						.						120.0	111.0	114.0					12																	12037474		2203	4300	6503	11928741	SO:0001583	missense	2120	exon6			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1105C>T	12.37:g.12037474C>T	ENSP00000379658:p.Arg369Trp	Somatic		Capture	Illumina HiSeq	Phase_I	11928741	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709353	0.89018	.	.	ENSG00000139083	ENST00000396373	T	0.16897	2.31	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52155	-0.8613	10	0.87932	D	0	.	19.2738	0.94021	0.0:1.0:0.0:0.0	.	369	P41212	ETV6_HUMAN	W	369	ENSP00000379658:R369W	ENSP00000379658:R369W	R	+	1	2	ETV6	11928741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.950000	0.70265	2.636000	0.89361	0.655000	0.94253	CGG		0.458	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	
GCN1L1	10985	broad.mit.edu	37	12	120611467	120611467	+	Silent	SNP	G	G	T	rs117081256	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:120611467G>T	ENST00000300648.6	-	14	1368	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	452					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.A452A(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGGTAAGAGGCCAACATGC	0.502																																					p.A452A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1356A	12						.						79.0	75.0	76.0					12																	120611467		1937	4119	6056	119095850	SO:0001819	synonymous_variant	10985	exon14			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1356C>A	12.37:g.120611467G>T		Somatic		Capture	Illumina HiSeq	Phase_I	119095850	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
CABP1	9478	broad.mit.edu	37	12	121098024	121098024	+	Silent	SNP	C	C	T	rs147505752		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:121098024C>T	ENST00000316803.3	+	3	845	c.711C>T	c.(709-711)ttC>ttT	p.F237F	CABP1_ENST00000453000.1_Silent_p.F173F|CABP1_ENST00000351200.2_Silent_p.F34F|CABP1_ENST00000288616.3_Silent_p.F94F	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	237	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.F94F(1)|p.F237F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGAGAATTCGACAAGGACA	0.587																																					p.F237F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C711T	12						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		711,102,282	1.6	1.0	12	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABP1	NM_001033677.1,NM_004276.3,NM_031205.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	237/371,34/168,94/228	121098024	1,13005	2203	4300	6503	119582407	SO:0001819	synonymous_variant	9478	exon3			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.711C>T	12.37:g.121098024C>T		Somatic		Capture	Illumina HiSeq	Phase_I	119582407	NM_001033677	O95663|Q8N6H5|Q9NZU8	Silent	SNP	ENST00000316803.3	37	CCDS31913.1																																																																																				0.587	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677	
OASL	8638	broad.mit.edu	37	12	121469417	121469417	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:121469417G>T	ENST00000257570.5	-	3	755	c.485C>A	c.(484-486)cCt>cAt	p.P162H	OASL_ENST00000339275.5_Missense_Mutation_p.P162H	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	162					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)	p.P162H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGAAGAGAAGGCCCTGAGGA	0.542																																					p.P162H	Colon(192;517 2041 31392 31913 39966)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	12						.						51.0	52.0	52.0					12																	121469417		2203	4300	6503	119953800	SO:0001583	missense	8638	exon3			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.485C>A	12.37:g.121469417G>T	ENSP00000257570:p.Pro162His	Somatic		Capture	Illumina HiSeq	Phase_I	119953800	NM_003733	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.651|9.651	1.141511|1.141511	0.21205|0.21205	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000543677|ENST00000257570;ENST00000339275	.|T;T	.|0.08634	.|3.07;3.07	5.52|5.52	2.64|2.64	0.31445|0.31445	.|.	.|1.051930	.|0.07537	.|N	.|0.913169	T|T	0.06554|0.06554	0.0168|0.0168	N|N	0.20766|0.20766	0.605|0.605	0.09310|0.09310	N|N	1|1	.|P;B	.|0.37731	.|0.607;0.019	.|B;B	.|0.34385	.|0.181;0.017	T|T	0.44298|0.44298	-0.9337|-0.9337	5|10	.|0.30078	.|T	.|0.28	-21.2779|-21.2779	11.5377|11.5377	0.50648|0.50648	0.0:0.0:0.5259:0.4741|0.0:0.0:0.5259:0.4741	.|.	.|162;162	.|Q15646-2;Q15646	.|.;OASL_HUMAN	I|H	60|162	.|ENSP00000257570:P162H;ENSP00000341125:P162H	.|ENSP00000257570:P162H	L|P	-|-	1|2	0|0	OASL|OASL	119953800|119953800	0.028000|0.028000	0.19301|0.19301	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	1.830000|1.830000	0.39131|0.39131	0.401000|0.401000	0.25424|0.25424	0.563000|0.563000	0.77884|0.77884	CTT|CCT		0.542	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
P2RX4	5025	broad.mit.edu	37	12	121666589	121666589	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:121666589A>G	ENST00000337233.4	+	7	975	c.667A>G	c.(667-669)Aca>Gca	p.T223A	P2RX4_ENST00000359949.7_Missense_Mutation_p.T239A|P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000543171.1_Missense_Mutation_p.T122A	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	223					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.T223A(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCTAAAACAGATCCCTT	0.502																																					p.T223A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667G	12						.						123.0	117.0	119.0					12																	121666589		2203	4300	6503	120150972	SO:0001583	missense	5025	exon7			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.667A>G	12.37:g.121666589A>G	ENSP00000336607:p.Thr223Ala	Somatic		Capture	Illumina HiSeq	Phase_I	120150972	NM_002560	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.591051	0.46214	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000538701;ENST00000542067	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	5.31	5.31	0.75309	.	0.046907	0.85682	D	0.000000	T	0.19967	0.0480	M	0.88105	2.93	0.33349	D	0.570765	D;P;P	0.60575	0.988;0.861;0.861	D;D;D	0.65233	0.928;0.933;0.933	T	0.34329	-0.9833	10	0.23891	T	0.37	-16.9705	9.0377	0.36298	0.9177:0.0:0.0823:0.0	.	196;239;223	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	A	223;239;122;93;196	ENSP00000336607:T223A;ENSP00000353032:T239A;ENSP00000438131:T122A;ENSP00000444033:T93A;ENSP00000438329:T196A	ENSP00000336607:T223A	T	+	1	0	P2RX4	120150972	0.873000	0.30073	0.717000	0.30585	0.844000	0.47949	4.770000	0.62309	2.012000	0.59069	0.260000	0.18958	ACA		0.502	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567	
HPD	3242	broad.mit.edu	37	12	122295337	122295337	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122295337G>A	ENST00000289004.4	-	4	130	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_5'UTR	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	32					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.A32V(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GAATGACGTGGCCTGAATCAC	0.607																																					p.A32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95T	12						.						56.0	54.0	55.0					12																	122295337		2203	4300	6503	120779720	SO:0001630	splice_region_variant	3242	exon4			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.94-1C>T	12.37:g.122295337G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120779720	NM_002150	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914905	0.72983	.	.	ENSG00000158104	ENST00000289004;ENST00000545969	T	0.69306	-0.39	5.48	5.48	0.80851	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.76170	2.325	0.80722	D	1	D	0.56968	0.978	P	0.55303	0.773	T	0.80589	-0.1315	10	0.72032	D	0.01	-6.8509	17.4969	0.87720	0.0:0.0:1.0:0.0	.	32	P32754	HPPD_HUMAN	V	32;29	ENSP00000289004:A32V	ENSP00000289004:A32V	A	-	2	0	HPD	120779720	1.000000	0.71417	0.995000	0.50966	0.063000	0.16089	8.368000	0.90115	2.741000	0.93983	0.555000	0.69702	GCC		0.607	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	Missense_Mutation
WDR66	144406	broad.mit.edu	37	12	122369704	122369704	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122369704G>A	ENST00000288912.4	+	4	1654	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	WDR66_ENST00000397454.2_Missense_Mutation_p.R267Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	267							calcium ion binding (GO:0005509)	p.R267Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TACTATATTCGAGAGGAAAGG	0.468																																					p.R267Q	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800A	12						.						139.0	126.0	130.0					12																	122369704		1945	4157	6102	120854087	SO:0001583	missense	144406	exon4			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.800G>A	12.37:g.122369704G>A	ENSP00000288912:p.Arg267Gln	Somatic		Capture	Illumina HiSeq	Phase_I	120854087	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996084	0.54147	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05081	3.5;3.5	4.82	1.96	0.26148	.	0.331184	0.29266	N	0.012653	T	0.05090	0.0136	L	0.46741	1.465	0.24591	N	0.993829	B	0.23540	0.087	B	0.20767	0.031	T	0.36480	-0.9746	10	0.26408	T	0.33	.	3.3954	0.07304	0.3641:0.0:0.4623:0.1736	.	267	Q8TBY9	WDR66_HUMAN	Q	267	ENSP00000288912:R267Q;ENSP00000380595:R267Q	ENSP00000288912:R267Q	R	+	2	0	WDR66	120854087	0.990000	0.36364	0.056000	0.19401	0.977000	0.68977	0.903000	0.28475	0.450000	0.26774	0.491000	0.48974	CGA		0.468	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
WDR66	144406	broad.mit.edu	37	12	122386923	122386923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122386923G>T	ENST00000288912.4	+	8	2079	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E409*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	409							calcium ion binding (GO:0005509)	p.E409*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAATAATAAAGAATTGGTGAG	0.279																																					p.E409X	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1225T	12						.						74.0	72.0	73.0					12																	122386923		1790	4045	5835	120871306	SO:0001587	stop_gained	144406	exon8			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1225G>T	12.37:g.122386923G>T	ENSP00000288912:p.Glu409*	Somatic		Capture	Illumina HiSeq	Phase_I	120871306	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	38	6.773998	0.97829	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	5.69	5.69	0.88448	.	0.110450	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.9752	0.71267	0.0:0.1425:0.8575:0.0	.	.	.	.	X	409	.	ENSP00000288912:E409X	E	+	1	0	WDR66	120871306	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.638000	0.61353	2.687000	0.91594	0.650000	0.86243	GAA		0.279	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
LRRC43	254050	broad.mit.edu	37	12	122677316	122677316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122677316G>T	ENST00000339777.4	+	7	1142	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	LRRC43_ENST00000425921.1_Nonsense_Mutation_p.E187*	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	372	Glu-rich.							p.E372*(1)|p.E187*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCCAGCTTAGAATTATTAGT	0.507																																					p.E372X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1114T	12						.						96.0	91.0	92.0					12																	122677316		1948	4147	6095	121243269	SO:0001587	stop_gained	254050	exon7			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1114G>T	12.37:g.122677316G>T	ENSP00000344233:p.Glu372*	Somatic		Capture	Illumina HiSeq	Phase_I	121243269	NM_001098519	Q6ZVT9	Nonsense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426078	0.62733	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	.	.	.	3.6	3.6	0.41247	.	4.019960	0.01587	U	0.021352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.2276	11.0372	0.47808	0.0:0.0:1.0:0.0	.	.	.	.	X	372;243;187	.	ENSP00000289014:E243X	E	+	1	0	LRRC43	121243269	0.590000	0.26815	0.030000	0.17652	0.006000	0.05464	3.450000	0.52957	2.301000	0.77427	0.655000	0.94253	GAA		0.507	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	
CLIP1	6249	broad.mit.edu	37	12	122825971	122825971	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122825971C>T	ENST00000540338.1	-	10	1821	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	CLIP1_ENST00000545889.1_Missense_Mutation_p.A284T|CLIP1_ENST00000361654.4_Missense_Mutation_p.A548T|CLIP1_ENST00000537178.1_Missense_Mutation_p.A548T|CLIP1_ENST00000358808.2_Missense_Mutation_p.A583T|CLIP1_ENST00000302528.7_Missense_Mutation_p.A583T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	594					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A583T(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTTCCGTGGCGGTATACAGA	0.458																																					p.A548T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1642A	12						.						141.0	141.0	141.0					12																	122825971		2203	4300	6503	121391924	SO:0001583	missense	6249	exon9				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1780G>A	12.37:g.122825971C>T	ENSP00000439093:p.Ala594Thr	Somatic		Capture	Illumina HiSeq	Phase_I	121391924	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029911	0.19512	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61040	2.69;0.69;0.69;0.65;0.65;0.14	5.37	0.0771	0.14406	.	0.369567	0.31601	N	0.007380	T	0.38772	0.1053	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.14438	0.006;0.01;0.01;0.006	B;B;B;B	0.11329	0.003;0.006;0.004;0.003	T	0.13845	-1.0494	10	0.33141	T	0.24	-1.3898	4.5989	0.12343	0.2255:0.3916:0.0:0.3829	.	284;548;583;594	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	T	284;583;583;428;548;594;517	ENSP00000438743:A284T;ENSP00000303585:A583T;ENSP00000351665:A583T;ENSP00000445531:A548T;ENSP00000439093:A594T;ENSP00000437786:A517T	ENSP00000303585:A583T	A	-	1	0	CLIP1	121391924	0.012000	0.17670	0.000000	0.03702	0.564000	0.35744	0.138000	0.16016	0.078000	0.16900	-0.215000	0.12644	GCC		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
KNTC1	9735	broad.mit.edu	37	12	123026644	123026644	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123026644A>G	ENST00000333479.7	+	6	670	c.493A>G	c.(493-495)Aca>Gca	p.T165A	KNTC1_ENST00000450485.2_Missense_Mutation_p.T165A	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	165					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.T165A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTGTATTACAAACCTTCA	0.244																																					p.T165A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A493G	12						.						37.0	35.0	35.0					12																	123026644		1780	4053	5833	121592597	SO:0001583	missense	9735	exon6				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.493A>G	12.37:g.123026644A>G	ENSP00000328236:p.Thr165Ala	Somatic		Capture	Illumina HiSeq	Phase_I	121592597	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404525	0.42613	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.24723	1.84;2.49	5.33	5.33	0.75918	.	0.270728	0.36234	N	0.002712	T	0.16342	0.0393	N	0.19112	0.55	0.80722	D	1	B;B	0.34015	0.435;0.435	B;B	0.27887	0.084;0.084	T	0.07065	-1.0792	10	0.27785	T	0.31	-18.2479	14.9592	0.71144	1.0:0.0:0.0:0.0	.	165;165	E7ES84;P50748	.;KNTC1_HUMAN	A	165	ENSP00000397992:T165A;ENSP00000328236:T165A	ENSP00000328236:T165A	T	+	1	0	KNTC1	121592597	1.000000	0.71417	0.986000	0.45419	0.929000	0.56500	5.459000	0.66685	2.014000	0.59158	0.460000	0.39030	ACA		0.244	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
KNTC1	9735	broad.mit.edu	37	12	123075194	123075194	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123075194G>A	ENST00000333479.7	+	41	4217	c.4040G>A	c.(4039-4041)gGt>gAt	p.G1347D	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1347					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.G1347D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGGCGTTGGGTTACTGCACT	0.378																																					p.G1347D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4040A	12						.						229.0	212.0	217.0					12																	123075194		1859	4094	5953	121641147	SO:0001583	missense	9735	exon41				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4040G>A	12.37:g.123075194G>A	ENSP00000328236:p.Gly1347Asp	Somatic		Capture	Illumina HiSeq	Phase_I	121641147	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446071	0.84101	.	.	ENSG00000184445	ENST00000333479	T	0.23950	1.88	5.6	3.74	0.42951	.	0.151452	0.64402	N	0.000016	T	0.37625	0.1010	M	0.63843	1.955	0.80722	D	1	D	0.57899	0.981	P	0.53593	0.73	T	0.17167	-1.0378	10	0.87932	D	0	-9.265	10.8518	0.46775	0.0714:0.1358:0.7928:0.0	.	1347	P50748	KNTC1_HUMAN	D	1347	ENSP00000328236:G1347D	ENSP00000328236:G1347D	G	+	2	0	KNTC1	121641147	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.210000	0.77924	0.703000	0.31848	0.585000	0.79938	GGT		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
KNTC1	9735	broad.mit.edu	37	12	123089602	123089602	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123089602G>T	ENST00000333479.7	+	50	5531	c.5354G>T	c.(5353-5355)aGa>aTa	p.R1785I	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.R210I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1785					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.R1785I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATCAATCAAAGAATTCAGAAT	0.363																																					p.R1785I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5354T	12						.						56.0	51.0	53.0					12																	123089602		1869	4107	5976	121655555	SO:0001583	missense	9735	exon50				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5354G>T	12.37:g.123089602G>T	ENSP00000328236:p.Arg1785Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121655555	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	37	6.309943	0.97462	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.37235	1.21;1.21	5.71	5.71	0.89125	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.093428	0.64402	D	0.000001	T	0.60366	0.2263	M	0.69823	2.125	0.50632	D	0.999884	D	0.67145	0.996	D	0.63488	0.915	T	0.61466	-0.7057	10	0.66056	D	0.02	-22.0312	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1785	P50748	KNTC1_HUMAN	I	1785;210	ENSP00000328236:R1785I;ENSP00000443622:R210I	ENSP00000328236:R1785I	R	+	2	0	KNTC1	121655555	1.000000	0.71417	0.013000	0.15412	0.913000	0.54294	6.110000	0.71535	2.697000	0.92050	0.591000	0.81541	AGA		0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
HCAR2	338442	broad.mit.edu	37	12	123187692	123187692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123187692G>A	ENST00000328880.5	-	1	198	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	47					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.L47F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CACAGGGCAAGGCCATTGCCC	0.512																																					p.L47F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139T	12						.						70.0	67.0	68.0					12																	123187692		2203	4300	6503	121753645	SO:0001583	missense	338442	exon1			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.139C>T	12.37:g.123187692G>A	ENSP00000375066:p.Leu47Phe	Somatic		Capture	Illumina HiSeq	Phase_I	121753645	NM_177551	A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372080	0.61624	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.78481	-1.18	5.49	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.146062	0.31859	N	0.006945	T	0.80226	0.4584	L	0.57536	1.79	0.34946	D	0.750772	P	0.39883	0.693	P	0.49477	0.612	D	0.84054	0.0371	10	0.48119	T	0.1	-8.9573	12.2725	0.54714	0.0:0.0:0.6362:0.3638	.	47	Q8TDS4	HCAR2_HUMAN	F	47	ENSP00000375066:L47F	ENSP00000375066:L47F	L	-	1	0	HCAR2	121753645	0.013000	0.17824	0.997000	0.53966	0.999000	0.98932	0.162000	0.16501	0.715000	0.32103	0.655000	0.94253	CTT		0.512	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
CCDC62	84660	broad.mit.edu	37	12	123285842	123285842	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123285842C>T	ENST00000253079.6	+	9	1493	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	CCDC62_ENST00000392440.2_Silent_p.I144I|CCDC62_ENST00000392441.4_Silent_p.I383I|CCDC62_ENST00000537566.1_Silent_p.I144I	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	383					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.I383I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACAACAGATCGATACTGTGT	0.413																																					p.I383I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1149T	12						.						101.0	93.0	95.0					12																	123285842		2203	4300	6503	121851795	SO:0001819	synonymous_variant	84660	exon9				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1149C>T	12.37:g.123285842C>T		Somatic		Capture	Illumina HiSeq	Phase_I	121851795	NM_201435	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	CCDS9238.1																																																																																				0.413	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	
SBNO1	55206	broad.mit.edu	37	12	123795611	123795611	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123795611G>T	ENST00000602398.1	-	25	3413	c.3286C>A	c.(3286-3288)Ctc>Atc	p.L1096I	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1095I|SBNO1_ENST00000420886.2_Missense_Mutation_p.L1096I|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1095I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1096					regulation of transcription, DNA-templated (GO:0006355)			p.L1095I(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTTATCGAGAGTAAGAATT	0.383																																					p.L1095I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3283A	12						.						123.0	112.0	116.0					12																	123795611		2203	4300	6503	122361564	SO:0001583	missense	55206	exon24			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3286C>A	12.37:g.123795611G>T	ENSP00000473665:p.Leu1096Ile	Somatic		Capture	Illumina HiSeq	Phase_I	122361564	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066592	0.55539	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.33865	1.39;1.39	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000004	T	0.44561	0.1299	L	0.31207	0.915	0.54753	D	0.999982	D;D;P	0.69078	0.997;0.996;0.707	D;D;P	0.85130	0.997;0.994;0.615	T	0.20075	-1.0286	10	0.13108	T	0.6	-12.7614	14.1864	0.65607	0.0722:0.0:0.9278:0.0	.	1096;1095;207	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	I	1096;1095	ENSP00000387361:L1096I;ENSP00000267176:L1095I	ENSP00000267176:L1095I	L	-	1	0	SBNO1	122361564	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.955000	0.56715	1.292000	0.44672	0.484000	0.47621	CTC		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
SBNO1	55206	broad.mit.edu	37	12	123804466	123804466	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:123804466C>T	ENST00000602398.1	-	20	2907	c.2780G>A	c.(2779-2781)cGa>cAa	p.R927Q	SBNO1_ENST00000602750.1_Missense_Mutation_p.R926Q|SBNO1_ENST00000420886.2_Missense_Mutation_p.R927Q|SBNO1_ENST00000267176.4_Missense_Mutation_p.R926Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	927					regulation of transcription, DNA-templated (GO:0006355)			p.R926Q(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCCATAAATCGTTGTTTTTC	0.363																																					p.R926Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2777A	12						.						179.0	156.0	163.0					12																	123804466		2203	4300	6503	122370419	SO:0001583	missense	55206	exon19			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2780G>A	12.37:g.123804466C>T	ENSP00000473665:p.Arg927Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122370419	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339357	0.81911	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.76186	-1.0;-1.0	5.72	5.72	0.89469	.	0.056293	0.64402	D	0.000001	D	0.82788	0.5113	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.59825	0.864;0.786	T	0.79235	-0.1887	10	0.28530	T	0.3	-26.9978	19.8804	0.96895	0.0:1.0:0.0:0.0	.	927;926	A3KN83;A3KN83-2	SBNO1_HUMAN;.	Q	927;926	ENSP00000387361:R927Q;ENSP00000267176:R926Q	ENSP00000267176:R926Q	R	-	2	0	SBNO1	122370419	1.000000	0.71417	0.865000	0.33974	0.256000	0.26092	7.818000	0.86416	2.684000	0.91462	0.563000	0.77884	CGA		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
TMED2	10959	broad.mit.edu	37	12	124069274	124069274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124069274G>T	ENST00000262225.3	+	1	197	c.91G>T	c.(91-93)Gag>Tag	p.E31*	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	31	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.E31*(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CCATGCTGAAGAGTGCTTCTT	0.627																																					p.E31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G91T	12						.						69.0	63.0	65.0					12																	124069274		2203	4300	6503	122635227	SO:0001587	stop_gained	10959	exon1			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.91G>T	12.37:g.124069274G>T	ENSP00000262225:p.Glu31*	Somatic		Capture	Illumina HiSeq	Phase_I	122635227	NM_006815		Nonsense_Mutation	SNP	ENST00000262225.3	37	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	G	38	6.646699	0.97730	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000541504	.	.	.	4.25	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.1521	12.0059	0.53259	0.085:0.0:0.915:0.0	.	.	.	.	X	31	.	ENSP00000262225:E31X	E	+	1	0	TMED2	122635227	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.555000	0.73928	1.126000	0.42016	0.591000	0.81541	GAG		0.627	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815	
GTF2H3	2967	broad.mit.edu	37	12	124132613	124132613	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124132613G>A	ENST00000543341.2	+	4	335	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	GTF2H3_ENST00000228955.7_Missense_Mutation_p.E61K	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	102					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)	p.E102K(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TGGAAAATACGAACTTTTAAC	0.358								Nucleotide excision repair (NER)																													p.E102K	Melanoma(176;111 2022 3038 14733 36962)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	12						.						68.0	72.0	70.0					12																	124132613		2203	4300	6503	122698566	SO:0001583	missense	2967	exon4			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.304G>A	12.37:g.124132613G>A	ENSP00000445162:p.Glu102Lys	Somatic		Capture	Illumina HiSeq	Phase_I	122698566	NM_001516	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517428	0.64634	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000536375;ENST00000538533;ENST00000542231;ENST00000543154	.	.	.	5.39	4.5	0.54988	.	0.053758	0.64402	N	0.000001	T	0.77445	0.4131	M	0.70595	2.14	0.50313	D	0.999864	D	0.89917	1.0	D	0.91635	0.999	T	0.80504	-0.1353	9	0.87932	D	0	.	14.1046	0.65080	0.0737:0.0:0.9263:0.0	.	102	Q13889	TF2H3_HUMAN	K	92;117;61;102;102;61;52;6	.	ENSP00000228955:E61K	E	+	1	0	GTF2H3	122698566	1.000000	0.71417	0.181000	0.23098	0.363000	0.29612	7.639000	0.83342	1.429000	0.47314	-0.384000	0.06662	GAA		0.358	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516	
DNAH10	196385	broad.mit.edu	37	12	124256232	124256232	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124256232A>C	ENST00000409039.3	+	3	225	c.200A>C	c.(199-201)aAa>aCa	p.K67T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	67	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K67T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTTCAGAAAAACTCCCTTCC	0.473																																					p.K67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200C	12						.						77.0	72.0	73.0					12																	124256232		1852	4095	5947	122822185	SO:0001583	missense	196385	exon3			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.200A>C	12.37:g.124256232A>C	ENSP00000386770:p.Lys67Thr	Somatic		Capture	Illumina HiSeq	Phase_I	122822185	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	1.258	-0.616661	0.03663	.	.	ENSG00000197653	ENST00000409039	T	0.23552	1.9	3.68	-0.505	0.11993	.	.	.	.	.	T	0.08626	0.0214	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38520	-0.9657	9	0.13853	T	0.58	.	4.6605	0.12639	0.5055:0.3818:0.1127:0.0	.	67	Q8IVF4	DYH10_HUMAN	T	67	ENSP00000386770:K67T	ENSP00000386770:K67T	K	+	2	0	DNAH10	122822185	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.056000	0.14256	-0.195000	0.10382	-0.438000	0.05819	AAA		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124265753	124265753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124265753G>T	ENST00000409039.3	+	6	590	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	189	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E7*(1)|p.E189*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGGCAGTAGAATATCACAG	0.438																																					p.E189X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G565T	12						.						164.0	177.0	172.0					12																	124265753		2203	4300	6503	122831706	SO:0001587	stop_gained	196385	exon6			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.565G>T	12.37:g.124265753G>T	ENSP00000386770:p.Glu189*	Somatic		Capture	Illumina HiSeq	Phase_I	122831706	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	g	24.6	4.547207	0.86022	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.05	5.05	0.67936	.	0.189089	0.32028	U	0.006681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	18.0647	0.89387	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000386770:E189X	E	+	1	0	DNAH10	122831706	1.000000	0.71417	0.878000	0.34440	0.026000	0.11368	5.462000	0.66707	2.345000	0.79718	0.436000	0.28706	GAA		0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124298324	124298324	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124298324G>T	ENST00000409039.3	+	20	3316	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1097	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1097N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCTTAGGAAGATCCCCAATA	0.403																																					p.K1097N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3291T	12						.						77.0	77.0	77.0					12																	124298324		2197	4299	6496	122864277	SO:0001583	missense	196385	exon20			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3291G>T	12.37:g.124298324G>T	ENSP00000386770:p.Lys1097Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122864277	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138856	0.21123	.	.	ENSG00000197653	ENST00000409039	T	0.23754	1.89	5.59	5.59	0.84812	.	.	.	.	.	T	0.22704	0.0548	L	0.54323	1.7	0.31048	N	0.715526	B	0.30326	0.276	B	0.28709	0.093	T	0.18023	-1.0350	9	0.41790	T	0.15	.	5.8189	0.18516	0.1152:0.0:0.6964:0.1884	.	1097	Q8IVF4	DYH10_HUMAN	N	1097	ENSP00000386770:K1097N	ENSP00000386770:K1097N	K	+	3	2	DNAH10	122864277	0.995000	0.38212	1.000000	0.80357	0.553000	0.35397	1.541000	0.36126	2.627000	0.88993	0.563000	0.77884	AAG		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124305175	124305175	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124305175A>C	ENST00000409039.3	+	23	3720	c.3695A>C	c.(3694-3696)aAg>aCg	p.K1232T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1232	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1232T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGACATGAAAAGAGCCGTCAG	0.408																																					p.K1232T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3695C	12						.						101.0	104.0	103.0					12																	124305175		1870	4114	5984	122871128	SO:0001583	missense	196385	exon23			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3695A>C	12.37:g.124305175A>C	ENSP00000386770:p.Lys1232Thr	Somatic		Capture	Illumina HiSeq	Phase_I	122871128	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	2.128	-0.399758	0.04865	.	.	ENSG00000197653	ENST00000409039	T	0.23552	1.9	5.18	-2.92	0.05615	.	.	.	.	.	T	0.21718	0.0523	L	0.55834	1.745	0.22280	N	0.999236	B	0.09022	0.002	B	0.09377	0.004	T	0.34700	-0.9818	9	0.23302	T	0.38	.	11.5894	0.50938	0.5651:0.0:0.4349:0.0	.	1232	Q8IVF4	DYH10_HUMAN	T	1232	ENSP00000386770:K1232T	ENSP00000386770:K1232T	K	+	2	0	DNAH10	122871128	0.005000	0.15991	0.920000	0.36463	0.036000	0.12997	0.291000	0.18994	-0.272000	0.09259	-0.388000	0.06559	AAG		0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124311318	124311318	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124311318G>A	ENST00000409039.3	+	24	3935	c.3910G>A	c.(3910-3912)Gct>Act	p.A1304T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1304	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1304T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTTCTCAGGGCTCTCAGAAA	0.458																																					p.A1304T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3910A	12						.						140.0	135.0	137.0					12																	124311318		1880	4111	5991	122877271	SO:0001583	missense	196385	exon24			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3910G>A	12.37:g.124311318G>A	ENSP00000386770:p.Ala1304Thr	Somatic		Capture	Illumina HiSeq	Phase_I	122877271	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718318	0.15372	.	.	ENSG00000197653	ENST00000409039	T	0.60672	0.17	4.94	-6.72	0.01755	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.24693	-1.0153	9	0.16420	T	0.52	.	7.5051	0.27540	0.1687:0.0:0.2204:0.6109	.	1304	Q8IVF4	DYH10_HUMAN	T	1304	ENSP00000386770:A1304T	ENSP00000386770:A1304T	A	+	1	0	DNAH10	122877271	0.000000	0.05858	0.000000	0.03702	0.733000	0.41908	-0.485000	0.06520	-1.727000	0.01368	-0.310000	0.09108	GCT		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
LRP6	4040	broad.mit.edu	37	12	12397410	12397410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:12397410C>A	ENST00000261349.4	-	2	311	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.E79*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	79	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E79*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGTTAAATTCTGTTCGTTTA	0.448																																					p.E79X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G235T	12						.						114.0	100.0	104.0					12																	12397410		2203	4300	6503	12288677	SO:0001587	stop_gained	4040	exon2			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.235G>T	12.37:g.12397410C>A	ENSP00000261349:p.Glu79*	Somatic		Capture	Illumina HiSeq	Phase_I	12288677	NM_002336	Q17RZ2	Nonsense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013314	0.97200	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	5.04	5.04	0.67666	.	0.110107	0.38111	U	0.001810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	ENSP00000261349:E79X	E	-	1	0	LRP6	12288677	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.857000	0.69525	2.627000	0.88993	0.460000	0.39030	GAA		0.448	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
DNAH10	196385	broad.mit.edu	37	12	124320058	124320058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124320058G>A	ENST00000409039.3	+	27	4556	c.4531G>A	c.(4531-4533)Gat>Aat	p.D1511N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1511	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D103N(1)|p.D1511N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGACAACATCGATAAAGTATT	0.333																																					p.D1511N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4531A	12						.						77.0	69.0	72.0					12																	124320058		1832	4089	5921	122886011	SO:0001583	missense	196385	exon27			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4531G>A	12.37:g.124320058G>A	ENSP00000386770:p.Asp1511Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122886011	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167023	0.78339	.	.	ENSG00000197653	ENST00000409039	T	0.64991	-0.13	5.75	5.75	0.90469	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.78704	0.4325	M	0.71920	2.185	0.58432	D	0.999998	D	0.89917	1.0	D	0.67900	0.954	T	0.77197	-0.2676	10	0.45353	T	0.12	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	1511	Q8IVF4	DYH10_HUMAN	N	1511	ENSP00000386770:D1511N	ENSP00000386770:D1511N	D	+	1	0	DNAH10	122886011	1.000000	0.71417	0.993000	0.49108	0.558000	0.35554	7.603000	0.82811	2.708000	0.92522	0.650000	0.86243	GAT		0.333	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124323149	124323149	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124323149C>T	ENST00000409039.3	+	28	4720	c.4695C>T	c.(4693-4695)ttC>ttT	p.F1565F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1565	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F1565F(1)|p.F157F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAATGCTTTCCCAAGGTTCT	0.522																																					p.F1565F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4695T	12						.						121.0	124.0	123.0					12																	124323149		1969	4146	6115	122889102	SO:0001819	synonymous_variant	196385	exon28			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4695C>T	12.37:g.124323149C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122889102	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124341665	124341665	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124341665T>C	ENST00000409039.3	+	36	6172	c.6147T>C	c.(6145-6147)gtT>gtC	p.V2049V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2049					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2049V(1)|p.V641V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAGATGTTCCTCTTTTCC	0.507																																					p.V2049V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T6147C	12						.						196.0	204.0	201.0					12																	124341665		2064	4191	6255	122907618	SO:0001819	synonymous_variant	196385	exon36			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6147T>C	12.37:g.124341665T>C		Somatic		Capture	Illumina HiSeq	Phase_I	122907618	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124349195	124349195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124349195C>T	ENST00000409039.3	+	39	6633	c.6608C>T	c.(6607-6609)tCt>tTt	p.S2203F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2203	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2203F(2)|p.S795F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACATGAATTCTGTGATGGAT	0.473																																					p.S2203F												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C6608T	12						.						150.0	147.0	148.0					12																	124349195		2012	4188	6200	122915148	SO:0001583	missense	196385	exon39			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6608C>T	12.37:g.124349195C>T	ENSP00000386770:p.Ser2203Phe	Somatic		Capture	Illumina HiSeq	Phase_I	122915148	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	32	5.128723	0.94473	.	.	ENSG00000197653	ENST00000409039	D	0.90004	-2.6	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000004	D	0.97087	0.9048	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98539	1.0631	10	0.87932	D	0	.	19.3147	0.94207	0.0:1.0:0.0:0.0	.	2203	Q8IVF4	DYH10_HUMAN	F	2203	ENSP00000386770:S2203F	ENSP00000386770:S2203F	S	+	2	0	DNAH10	122915148	1.000000	0.71417	0.943000	0.38184	0.995000	0.86356	7.818000	0.86416	2.559000	0.86315	0.563000	0.77884	TCT		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124352641	124352641	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124352641T>G	ENST00000409039.3	+	42	7165	c.7140T>G	c.(7138-7140)gtT>gtG	p.V2380V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2380					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2380V(1)|p.V972V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAGGAGTTTGGGCCAACC	0.493																																					p.V2380V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T7140G	12						.						43.0	44.0	44.0					12																	124352641		1880	4116	5996	122918594	SO:0001819	synonymous_variant	196385	exon42			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7140T>G	12.37:g.124352641T>G		Somatic		Capture	Illumina HiSeq	Phase_I	122918594	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124408312	124408312	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124408312C>T	ENST00000409039.3	+	65	11180	c.11155C>T	c.(11155-11157)Ctg>Ttg	p.L3719L	CCDC92_ENST00000544798.1_5'Flank|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3719					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3719L(1)|p.L2311L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCTCCAGGGCTGTTTGAGAG	0.338																																					p.L3719L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C11155T	12						.						55.0	52.0	53.0					12																	124408312		1814	4083	5897	122974265	SO:0001819	synonymous_variant	196385	exon65			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11155C>T	12.37:g.124408312C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122974265	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.338	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124415978	124415978	+	Missense_Mutation	SNP	G	G	A	rs372325504		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124415978G>A	ENST00000409039.3	+	73	12546	c.12521G>A	c.(12520-12522)cGa>cAa	p.R4174Q	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4174					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2766Q(1)|p.R4174Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGGCGGCTCGAGACATGTGG	0.537																																					p.R4174Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12521A	12						.						36.0	42.0	40.0					12																	124415978		2077	4215	6292	122981931	SO:0001583	missense	196385	exon73			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12521G>A	12.37:g.124415978G>A	ENSP00000386770:p.Arg4174Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122981931	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565207	0.65651	.	.	ENSG00000197653	ENST00000409039	T	0.07908	3.15	5.61	5.61	0.85477	Dynein heavy chain (1);	0.161988	0.40728	N	0.001026	T	0.09291	0.0229	L	0.37561	1.115	0.80722	D	1	P	0.47962	0.903	B	0.39904	0.313	T	0.29243	-1.0018	10	0.24483	T	0.36	.	19.6276	0.95684	0.0:0.0:1.0:0.0	.	4174	Q8IVF4	DYH10_HUMAN	Q	4174	ENSP00000386770:R4174Q	ENSP00000386770:R4174Q	R	+	2	0	DNAH10	122981931	1.000000	0.71417	0.884000	0.34674	0.166000	0.22503	7.781000	0.85668	2.637000	0.89404	0.650000	0.86243	CGA		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
ZNF664	144348	broad.mit.edu	37	12	124496763	124496763	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124496763T>C	ENST00000539644.1	+	6	1902	c.72T>C	c.(70-72)atT>atC	p.I24I	ZNF664_ENST00000538932.2_Silent_p.I24I|ZNF664_ENST00000337815.4_Silent_p.I24I|ZNF664_ENST00000392404.3_Silent_p.I24I|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	24				I -> V (in Ref. 5; AAC41997). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I24I(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCAGAAAATTCACACAGCTG	0.388																																					p.I24I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T72C	12						.						68.0	74.0	72.0					12																	124496763		2203	4300	6503	123062716	SO:0001819	synonymous_variant	144348	exon6				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.72T>C	12.37:g.124496763T>C		Somatic		Capture	Illumina HiSeq	Phase_I	123062716	NM_152437	B3KP97|Q15914|Q3ZCQ7	Silent	SNP	ENST00000539644.1	37	CCDS9257.1																																																																																				0.388	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
ZNF664	144348	broad.mit.edu	37	12	124497347	124497347	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:124497347G>A	ENST00000539644.1	+	6	2486	c.656G>A	c.(655-657)aGa>aAa	p.R219K	ZNF664_ENST00000538932.2_Missense_Mutation_p.R219K|ZNF664_ENST00000337815.4_Missense_Mutation_p.R219K|ZNF664_ENST00000392404.3_Missense_Mutation_p.R219K|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R219K(1)|p.R219I(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCCACCAGAGAGTCCACACA	0.522																																					p.R219K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G656A	12						.						100.0	103.0	102.0					12																	124497347		2203	4300	6503	123063300	SO:0001583	missense	144348	exon6				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.656G>A	12.37:g.124497347G>A	ENSP00000441405:p.Arg219Lys	Somatic		Capture	Illumina HiSeq	Phase_I	123063300	NM_152437	B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912398	0.72983	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000789	T	0.19725	0.0474	N	0.24115	0.695	0.27665	N	0.946946	D	0.54207	0.965	P	0.55391	0.775	T	0.02026	-1.1227	10	0.52906	T	0.07	-33.8347	10.4735	0.44650	0.0:0.1971:0.8029:0.0	.	219	Q8N3J9	ZN664_HUMAN	K	219;219;219;219;157	ENSP00000441405:R219K;ENSP00000376205:R219K;ENSP00000440645:R219K;ENSP00000337320:R219K	ENSP00000337320:R219K	R	+	2	0	ZNF664	123063300	1.000000	0.71417	0.982000	0.44146	0.918000	0.54935	3.558000	0.53749	2.651000	0.90000	0.655000	0.94253	AGA		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
AACS	65985	broad.mit.edu	37	12	125599080	125599080	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:125599080G>T	ENST00000316519.6	+	9	1179	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.D325Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	325					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.D325Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GACCAGCAGTGACATCCTCCT	0.602																																					p.D325Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973T	12						.						113.0	87.0	95.0					12																	125599080		2203	4300	6503	124165033	SO:0001583	missense	65985	exon9			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.973G>T	12.37:g.125599080G>T	ENSP00000324842:p.Asp325Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124165033	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514180	0.64522	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000441247	T;T;T	0.59772	2.3;2.3;0.24	4.72	4.72	0.59763	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89281	0.3612	10	0.87932	D	0	.	17.7596	0.88461	0.0:0.0:1.0:0.0	.	325;325	Q86V21-2;Q86V21	.;AACS_HUMAN	Y	325;325;181;144	ENSP00000324842:D325Y;ENSP00000261686:D325Y;ENSP00000392967:D144Y	ENSP00000261686:D325Y	D	+	1	0	AACS	124165033	1.000000	0.71417	0.100000	0.21137	0.342000	0.28953	9.214000	0.95140	2.161000	0.67846	0.549000	0.68633	GAC		0.602	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
APOLD1	81575	broad.mit.edu	37	12	12940355	12940355	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:12940355C>A	ENST00000326765.6	+	2	679	c.609C>A	c.(607-609)ttC>ttA	p.F203L	APOLD1_ENST00000356591.4_Missense_Mutation_p.F172L	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	203					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.F172L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TCATCGTCTTCTTTGGCTCAC	0.617																																					p.F172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C516A	12						.						107.0	118.0	114.0					12																	12940355		2203	4300	6503	12831622	SO:0001583	missense	81575	exon2			AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.609C>A	12.37:g.12940355C>A	ENSP00000324277:p.Phe203Leu	Somatic		Capture	Illumina HiSeq	Phase_I	12831622	NM_030817	Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	37	CCDS44833.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846558	0.71603	.	.	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.01287	5.05;5.05	5.35	4.4	0.53042	.	0.274733	0.27966	U	0.017134	T	0.01124	0.0037	N	0.19112	0.55	0.36648	D	0.877214	P;P	0.37636	0.603;0.603	B;B	0.28385	0.089;0.089	T	0.72246	-0.4349	10	0.22109	T	0.4	-20.3222	14.1555	0.65415	0.0:0.7242:0.2757:0.0	.	172;203	A0AVN6;Q96LR9	.;APLD1_HUMAN	L	203;172	ENSP00000324277:F203L;ENSP00000348998:F172L	ENSP00000324277:F203L	F	+	3	2	APOLD1	12831622	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.540000	0.36115	2.511000	0.84671	0.579000	0.79373	TTC		0.617	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817	
TMEM132D	121256	broad.mit.edu	37	12	129569107	129569107	+	Silent	SNP	G	G	A	rs565021234		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:129569107G>A	ENST00000422113.2	-	6	1910	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	TMEM132D_ENST00000389441.4_Silent_p.I66I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	528					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I528I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGAGACCTCGATCTGCAGCG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18962	0.001		0.0	False		,,,				2504	0.0				p.I528I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1584T	12						.						94.0	70.0	78.0					12																	129569107		2203	4300	6503	128135060	SO:0001819	synonymous_variant	121256	exon6			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1584C>T	12.37:g.129569107G>A		Somatic		Capture	Illumina HiSeq	Phase_I	128135060	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.582	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
FZD10	11211	broad.mit.edu	37	12	130647875	130647875	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130647875G>T	ENST00000229030.4	+	1	872	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R97L			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	130	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D130Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAAGTGGCCCGACTCCCTGGA	0.652																																					p.D130Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388T	12						.						98.0	97.0	97.0					12																	130647875		2203	4300	6503	129213828	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.388G>T	12.37:g.130647875G>T	ENSP00000229030:p.Asp130Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	129213828	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.553854|2.553854	0.45487|0.45487	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.80738|.	-1.41|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Frizzled domain (5);|.	0.124967|.	0.51477|.	U|.	0.000084|.	T|T	0.74145|0.74145	0.3678|0.3678	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.76071|.	0.987|.	T|T	0.77948|0.77948	-0.2396|-0.2396	10|6	0.87932|0.87932	D|D	0|0	.|.	17.8579|17.8579	0.88771|0.88771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130|.	Q9ULW2|.	FZD10_HUMAN|.	Y|L	130|97	ENSP00000229030:D130Y|.	ENSP00000229030:D130Y|ENSP00000438460:R97L	D|R	+|+	1|2	0|0	FZD10|FZD10	129213828|129213828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	9.357000|9.357000	0.97099|0.97099	2.202000|2.202000	0.70862|0.70862	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.652	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PIWIL1	9271	broad.mit.edu	37	12	130839145	130839145	+	Missense_Mutation	SNP	C	C	T	rs200413984	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130839145C>T	ENST00000245255.3	+	10	1380	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	370	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R370W(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAAGAGAAGGCGGGGCCCTGG	0.547													C|||	4	0.000798722	0.0	0.0	5008	,	,		15172	0.004		0.0	False		,,,				2504	0.0				p.R370W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1108T	12						.						65.0	73.0	70.0					12																	130839145		2203	4300	6503	129405098	SO:0001583	missense	9271	exon10			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1108C>T	12.37:g.130839145C>T	ENSP00000245255:p.Arg370Trp	Somatic		Capture	Illumina HiSeq	Phase_I	129405098	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	16.09	3.025850	0.54683	.	.	ENSG00000125207	ENST00000245255	T	0.17054	2.3	5.58	-11.2	0.00127	Argonaute/Dicer protein, PAZ (4);	0.482604	0.21696	N	0.070491	T	0.21631	0.0521	L	0.58810	1.83	0.19300	N	0.999976	D;D	0.71674	0.997;0.998	D;P	0.64410	0.925;0.904	T	0.63506	-0.6622	10	0.72032	D	0.01	-12.0997	19.7532	0.96277	0.1415:0.7791:0.0:0.0794	.	370;370	Q96J94;Q96J94-2	PIWL1_HUMAN;.	W	370	ENSP00000245255:R370W	ENSP00000245255:R370W	R	+	1	2	PIWIL1	129405098	0.998000	0.40836	0.000000	0.03702	0.627000	0.37826	0.905000	0.28504	-2.278000	0.00677	-0.473000	0.04963	CGG		0.547	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
PIWIL1	9271	broad.mit.edu	37	12	130842043	130842043	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130842043G>A	ENST00000245255.3	+	14	1882	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	537					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R537K(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGGATGACAGAACTGAAGCC	0.423																																					p.R537K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1610A	12						.						151.0	131.0	138.0					12																	130842043		2203	4300	6503	129407996	SO:0001583	missense	9271	exon14			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1610G>A	12.37:g.130842043G>A	ENSP00000245255:p.Arg537Lys	Somatic		Capture	Illumina HiSeq	Phase_I	129407996	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819125	0.50633	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.59	5.59	0.84812	Ribonuclease H-like (1);	0.117722	0.64402	D	0.000003	T	0.21022	0.0506	M	0.80332	2.49	0.45718	D	0.998624	B;B	0.33964	0.434;0.371	B;B	0.32211	0.13;0.142	T	0.01464	-1.1348	10	0.49607	T	0.09	-8.9361	14.2188	0.65812	0.0:0.1491:0.8509:0.0	.	537;537	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	537	ENSP00000245255:R537K	ENSP00000245255:R537K	R	+	2	0	PIWIL1	129407996	1.000000	0.71417	0.943000	0.38184	0.967000	0.64934	4.136000	0.58004	2.619000	0.88677	0.655000	0.94253	AGA		0.423	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
RIMBP2	23504	broad.mit.edu	37	12	130892274	130892274	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130892274G>A	ENST00000261655.4	-	16	3085	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	974	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V974V(2)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGGTACCTCGACATCGACGT	0.567																																					p.V974V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2922T	12						.						469.0	360.0	397.0					12																	130892274		2203	4300	6503	129458227	SO:0001819	synonymous_variant	23504	exon16			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2922C>T	12.37:g.130892274G>A		Somatic		Capture	Illumina HiSeq	Phase_I	129458227	NM_015347	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPRC5D	55507	broad.mit.edu	37	12	13102480	13102480	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13102480C>T	ENST00000228887.1	-	1	838	c.839G>A	c.(838-840)tGc>tAc	p.C280Y	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.C280Y|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C280Y(1)		kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGTGACGGGGCAGGCATTGCC	0.557																																					p.C280Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G839A	12						.						156.0	138.0	144.0					12																	13102480		2203	4300	6503	12993747	SO:0001583	missense	55507	exon1			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.839G>A	12.37:g.13102480C>T	ENSP00000228887:p.Cys280Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	12993747	NM_018654	Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	1.259	-0.616482	0.03663	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	T;T	0.22539	1.95;1.99	5.79	3.89	0.44902	.	0.628414	0.17186	N	0.183696	T	0.12646	0.0307	L	0.29908	0.895	0.34872	D	0.743695	B	0.17465	0.022	B	0.09377	0.004	T	0.06734	-1.0810	10	0.02654	T	1	.	11.7	0.51564	0.1348:0.7344:0.1308:0.0	.	280	Q9NZD1	GPC5D_HUMAN	Y	280	ENSP00000228887:C280Y;ENSP00000379624:C280Y	ENSP00000228887:C280Y	C	-	2	0	GPRC5D	12993747	0.922000	0.31269	0.216000	0.23742	0.024000	0.10985	1.274000	0.33132	2.739000	0.93911	0.655000	0.94253	TGC		0.557	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1		
RIMBP2	23504	broad.mit.edu	37	12	130897171	130897171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130897171C>A	ENST00000261655.4	-	15	2977	c.2814G>T	c.(2812-2814)gaG>gaT	p.E938D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	938					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E938D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATTTTCTCCACAGGTG	0.483																																					p.E938D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2814T	12						.						109.0	104.0	106.0					12																	130897171		2203	4300	6503	129463124	SO:0001583	missense	23504	exon15			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2814G>T	12.37:g.130897171C>A	ENSP00000261655:p.Glu938Asp	Somatic		Capture	Illumina HiSeq	Phase_I	129463124	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092920	0.36952	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.45276	2.05;0.9	5.06	4.04	0.47022	Src homology-3 domain (1);	0.298737	0.32041	N	0.006663	T	0.20292	0.0488	N	0.16656	0.425	0.80722	D	1	P	0.34864	0.473	B	0.31442	0.13	T	0.05402	-1.0887	10	0.12430	T	0.62	-36.6398	6.8212	0.23859	0.0:0.7196:0.0:0.2804	.	938	O15034	RIMB2_HUMAN	D	938;75	ENSP00000261655:E938D;ENSP00000439030:E75D	ENSP00000261655:E938D	E	-	3	2	RIMBP2	129463124	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	0.883000	0.28200	2.339000	0.79563	0.655000	0.94253	GAG		0.483	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPR133	283383	broad.mit.edu	37	12	131439191	131439191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:131439191C>A	ENST00000261654.5	+	2	648	c.89C>A	c.(88-90)tCg>tAg	p.S30*	GPR133_ENST00000535015.1_Nonsense_Mutation_p.S30*	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	30					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S30*(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TACTCCAGATCGCAGGACCAT	0.567																																					p.S30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C89A	12						.						114.0	97.0	103.0					12																	131439191		2203	4300	6503	130005144	SO:0001587	stop_gained	283383	exon2			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.89C>A	12.37:g.131439191C>A	ENSP00000261654:p.Ser30*	Somatic		Capture	Illumina HiSeq	Phase_I	130005144	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Nonsense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051018	0.75960	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	.	.	.	4.42	1.41	0.22369	.	2.349640	0.01850	N	0.035877	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	5.7384	0.18079	0.0:0.521:0.0:0.479	.	.	.	.	X	30	.	ENSP00000261654:S30X	S	+	2	0	GPR133	130005144	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.366000	0.20365	0.276000	0.22118	-0.258000	0.10820	TCG		0.567	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
SFSWAP	6433	broad.mit.edu	37	12	132249130	132249130	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:132249130C>A	ENST00000261674.4	+	12	1991	c.1850C>A	c.(1849-1851)tCt>tAt	p.S617Y	SFSWAP_ENST00000541286.1_Missense_Mutation_p.S617Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	617	Poly-Ser.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S617Y(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGAAAGTTCTAGTAGTGCT	0.448																																					p.S617Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1850A	12						.						109.0	90.0	96.0					12																	132249130		2203	4300	6503	130815083	SO:0001583	missense	6433	exon12			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1850C>A	12.37:g.132249130C>A	ENSP00000261674:p.Ser617Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	130815083	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928631	0.34002	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.25085	2.8;1.82;2.82	5.29	-0.0915	0.13661	.	1.214880	0.05399	N	0.540265	T	0.19927	0.0479	L	0.36672	1.1	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.23716	0.048;0.021	T	0.31138	-0.9954	10	0.48119	T	0.1	-0.1436	4.4065	0.11411	0.1149:0.354:0.397:0.1341	.	617;617	F5H6B8;Q12872	.;SFSWA_HUMAN	Y	617;410;617	ENSP00000261674:S617Y;ENSP00000443045:S410Y;ENSP00000437738:S617Y	ENSP00000261674:S617Y	S	+	2	0	SFSWAP	130815083	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.380000	0.20602	-0.235000	0.09767	0.561000	0.74099	TCT		0.448	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
EP400	57634	broad.mit.edu	37	12	132446388	132446388	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:132446388G>T	ENST00000333577.4	+	2	1333	c.1224G>T	c.(1222-1224)aaG>aaT	p.K408N	EP400_ENST00000332482.4_Missense_Mutation_p.K408N|EP400_ENST00000389562.2_Missense_Mutation_p.K408N|EP400_ENST00000330386.6_Missense_Mutation_p.K408N|EP400_ENST00000389561.2_Missense_Mutation_p.K408N			Q96L91	EP400_HUMAN	E1A binding protein p400	408					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K408N(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTTCAAGAAGAAACATTATG	0.403																																					p.K408N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1224T	12						.						126.0	122.0	124.0					12																	132446388		2203	4300	6503	131012341	SO:0001583	missense	57634	exon2			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1224G>T	12.37:g.132446388G>T	ENSP00000333602:p.Lys408Asn	Somatic		Capture	Illumina HiSeq	Phase_I	131012341	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	8.518	0.868088	0.17250	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.95171	-3.49;-3.55;-3.57;-3.63;-3.55	5.17	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.67953	2.075	0.33316	D	0.566738	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.997;0.991;0.999	D	0.98185	1.0459	10	0.87932	D	0	.	14.5555	0.68097	0.0838:0.0:0.9162:0.0	.	408;408;408;408;408	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	N	408	ENSP00000333602:K408N;ENSP00000374212:K408N;ENSP00000374213:K408N;ENSP00000331737:K408N;ENSP00000330620:K408N	ENSP00000330620:K408N	K	+	3	2	EP400	131012341	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.799000	0.55529	2.411000	0.81874	0.561000	0.74099	AAG		0.403	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
EP400	57634	broad.mit.edu	37	12	132497672	132497672	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:132497672G>A	ENST00000333577.4	+	18	3777	c.3668G>A	c.(3667-3669)cGc>cAc	p.R1223H	EP400_ENST00000332482.4_Missense_Mutation_p.R1150H|EP400_ENST00000389562.2_Missense_Mutation_p.R1186H|EP400_ENST00000330386.6_Missense_Mutation_p.R1187H|EP400_ENST00000389561.2_Missense_Mutation_p.R1187H			Q96L91	EP400_HUMAN	E1A binding protein p400	1223	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1186H(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGATGCAGCGCGTGAAGGGC	0.557																																					p.R1186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3557A	12						.						108.0	83.0	92.0					12																	132497672		2203	4300	6503	131063625	SO:0001583	missense	57634	exon17			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3668G>A	12.37:g.132497672G>A	ENSP00000333602:p.Arg1223His	Somatic		Capture	Illumina HiSeq	Phase_I	131063625	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	11.60	1.686448	0.29962	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	5.27	2.02	0.26589	.	0.224051	0.40640	N	0.001054	D	0.84674	0.5524	N	0.03294	-0.36	0.31619	N	0.650541	D;P;D	0.54964	0.969;0.945;0.969	P;P;P	0.46076	0.503;0.503;0.503	D	0.83857	0.0266	10	0.42905	T	0.14	.	5.4277	0.16436	0.5675:0.0:0.4325:0.0	.	1187;1187;1186	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	H	1223;1187;1186;1150;1187;1187;1187	ENSP00000333602:R1223H;ENSP00000374212:R1187H;ENSP00000374213:R1186H;ENSP00000331737:R1150H;ENSP00000330620:R1187H	ENSP00000330620:R1187H	R	+	2	0	EP400	131063625	1.000000	0.71417	0.614000	0.29051	0.551000	0.35334	3.831000	0.55776	0.598000	0.29829	0.549000	0.68633	CGC		0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
GSG1	83445	broad.mit.edu	37	12	13242166	13242166	+	Missense_Mutation	SNP	A	A	G	rs373191738		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13242166A>G	ENST00000351606.6	-	3	541	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P	GSG1_ENST00000432710.2_Intron|GSG1_ENST00000396302.3_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000537302.1_Missense_Mutation_p.S124P|GSG1_ENST00000324458.8_Missense_Mutation_p.S137P|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Missense_Mutation_p.S121P	NM_001080554.2	NP_001074023.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S137P(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTACCACTGGACCGAAGGGCT	0.403																																					p.S137P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T409C	12						.	A	PRO/SER,PRO/SER,,PRO/SER,,,	0,3900		0,0,1950	65.0	59.0	61.0		409,409,,370,,,	-2.4	0.0	12		61	1,8303		0,1,4151	no	missense,missense,intron,missense,intron,intron,intron	GSG1	NM_001080554.2,NM_001080555.2,NM_001206842.1,NM_001206843.1,NM_001206845.1,NM_031289.3,NM_153823.3	74,74,,74,,,	0,1,6101	GG,GA,AA		0.012,0.0,0.0082	,,,,,,	137/322,137/363,,124/299,,,	13242166	1,12203	1950	4152	6102	13133433	SO:0001583	missense	83445	exon3			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000351606.6:c.409T>C	12.37:g.13242166A>G	ENSP00000336857:p.Ser137Pro	Somatic		Capture	Illumina HiSeq	Phase_I	13133433	NM_001080555	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000351606.6	37	CCDS44836.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801532	0.31869	0.0	1.2E-4	ENSG00000111305	ENST00000324458;ENST00000396310;ENST00000537302;ENST00000351606;ENST00000542415;ENST00000545699	T;T;T;T;T;T	0.35973	1.45;1.43;1.42;1.3;1.28;1.35	2.88	-2.42	0.06542	.	.	.	.	.	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.18713	-1.0328	9	0.35671	T	0.21	.	0.269	0.00229	0.3202:0.1738:0.2773:0.2287	.	137;137;124;124	Q2KHT4-7;G3XAB9;Q2KHT4;Q2KHT4-2	.;.;GSG1_HUMAN;.	P	137;121;124;137;161;148	ENSP00000320838:S137P;ENSP00000379604:S121P;ENSP00000441718:S124P;ENSP00000336857:S137P;ENSP00000439676:S161P;ENSP00000440684:S148P	ENSP00000320838:S137P	S	-	1	0	GSG1	13133433	0.000000	0.05858	0.000000	0.03702	0.561000	0.35649	0.273000	0.18662	-0.538000	0.06281	-0.376000	0.06991	TCC		0.403	GSG1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401077.1	NM_031289	
EP400	57634	broad.mit.edu	37	12	132498436	132498436	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:132498436G>A	ENST00000333577.4	+	20	4118	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	EP400_ENST00000332482.4_Missense_Mutation_p.E1264K|EP400_ENST00000389562.2_Missense_Mutation_p.E1300K|EP400_ENST00000330386.6_Missense_Mutation_p.E1301K|EP400_ENST00000389561.2_Missense_Mutation_p.E1301K			Q96L91	EP400_HUMAN	E1A binding protein p400	1337	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E1300K(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCCTTATACGAGGACGTTAT	0.488																																					p.E1300K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3898A	12						.						102.0	96.0	98.0					12																	132498436		2203	4300	6503	131064389	SO:0001583	missense	57634	exon19			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4009G>A	12.37:g.132498436G>A	ENSP00000333602:p.Glu1337Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131064389	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	13.72	2.321073	0.41096	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	L	0.42529	1.33	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.982	D	0.95003	0.8145	10	0.72032	D	0.01	.	18.9542	0.92653	0.0:0.0:1.0:0.0	.	1301;1301;1300	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	1337;1301;1300;1264;1301;1301;1301	ENSP00000333602:E1337K;ENSP00000374212:E1301K;ENSP00000374213:E1300K;ENSP00000331737:E1264K;ENSP00000330620:E1301K	ENSP00000330620:E1301K	E	+	1	0	EP400	131064389	1.000000	0.71417	0.908000	0.35775	0.090000	0.18270	9.830000	0.99415	2.463000	0.83235	0.643000	0.83706	GAG		0.488	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
POLE	5426	broad.mit.edu	37	12	133250213	133250213	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133250213G>C	ENST00000320574.5	-	13	1350	c.1307C>G	c.(1306-1308)cCc>cGc	p.P436R	POLE_ENST00000535270.1_Missense_Mutation_p.P409R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	436			P -> R (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P436R(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TAGCTCCACGGGATCATAGCC	0.617								DNA polymerases (catalytic subunits)																													p.P436R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1307G	12						.						141.0	132.0	135.0					12																	133250213		2203	4300	6503	131760286	SO:0001583	missense	5426	exon13				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1307C>G	12.37:g.133250213G>C	ENSP00000322570:p.Pro436Arg	Somatic		Capture	Illumina HiSeq	Phase_I	131760286	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725616	0.68959	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.39592	4.94;4.94;4.94;1.07	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84599	0.0671	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	409;436	F5H1D6;Q07864	.;DPOE1_HUMAN	R	436;447;409;216;371;54	ENSP00000322570:P436R;ENSP00000406383:P447R;ENSP00000445753:P409R;ENSP00000442519:P216R	ENSP00000322570:P436R	P	-	2	0	POLE	131760286	1.000000	0.71417	0.991000	0.47740	0.142000	0.21351	9.762000	0.98944	2.660000	0.90430	0.305000	0.20034	CCC		0.617	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133256096	133256096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133256096C>T	ENST00000320574.5	-	6	608	c.565G>A	c.(565-567)Gct>Act	p.A189T	POLE_ENST00000535270.1_Missense_Mutation_p.A162T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	189			A -> T (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A189T(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GAAAGCAGAGCTGTGTACGCG	0.512								DNA polymerases (catalytic subunits)																													p.A189T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565A	12						.						150.0	132.0	138.0					12																	133256096		2203	4300	6503	131766169	SO:0001583	missense	5426	exon6				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.565G>A	12.37:g.133256096C>T	ENSP00000322570:p.Ala189Thr	Somatic		Capture	Illumina HiSeq	Phase_I	131766169	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	7.305	0.613778	0.14066	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	T;T;T	0.02606	4.23;4.23;4.23	5.95	-1.84	0.07809	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.533815	0.20506	N	0.091000	T	0.01421	0.0046	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.47686	-0.9098	10	0.14252	T	0.57	.	4.7891	0.13239	0.4148:0.2614:0.0:0.3238	.	162;189	F5H1D6;Q07864	.;DPOE1_HUMAN	T	189;200;162;124	ENSP00000322570:A189T;ENSP00000406383:A200T;ENSP00000445753:A162T	ENSP00000322570:A189T	A	-	1	0	POLE	131766169	0.000000	0.05858	0.015000	0.15790	0.606000	0.37113	-0.543000	0.06084	-0.388000	0.07797	0.491000	0.48974	GCT		0.512	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ANKLE2	23141	broad.mit.edu	37	12	133324421	133324421	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133324421C>A	ENST00000357997.5	-	5	1316	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	ANKLE2_ENST00000539605.1_Missense_Mutation_p.K347N|ANKLE2_ENST00000337516.5_Missense_Mutation_p.K409N	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	409					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.K409N(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CACGCACCATCTTGTCGGGGG	0.468																																					p.K409N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1227T	12						.						98.0	101.0	100.0					12																	133324421		2143	4243	6386	131834494	SO:0001583	missense	23141	exon5			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1227G>T	12.37:g.133324421C>A	ENSP00000350686:p.Lys409Asn	Somatic		Capture	Illumina HiSeq	Phase_I	131834494	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.138354	0.37728	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;0.86	5.7	-0.295	0.12828	Ankyrin repeat-containing domain (2);	0.043865	0.85682	D	0.000000	T	0.77116	0.4083	M	0.86953	2.85	0.52099	D	0.999944	D;D	0.71674	0.995;0.998	D;D	0.67548	0.947;0.952	T	0.78871	-0.2033	10	0.87932	D	0	-12.3097	11.2288	0.48899	0.0:0.1797:0.0:0.8203	.	409;409	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	N	347;409;409;179;55	ENSP00000446268:K347N;ENSP00000350686:K409N;ENSP00000337651:K409N;ENSP00000438515:K179N;ENSP00000445718:K55N	ENSP00000337651:K409N	K	-	3	2	ANKLE2	131834494	0.455000	0.25736	0.113000	0.21522	0.006000	0.05464	0.729000	0.26028	0.040000	0.15660	0.655000	0.94253	AAG		0.468	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
ZNF605	100289635	broad.mit.edu	37	12	133502193	133502193	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133502193G>A	ENST00000360187.4	-	5	2040	c.1692C>T	c.(1690-1692)agC>agT	p.S564S	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Silent_p.S595S	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	564					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)	p.S564S(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TTGCACAATCGCTGCATCCAT	0.398																																					p.S595S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1785T	12						.						135.0	129.0	131.0					12																	133502193		2203	4300	6503	132012266	SO:0001819	synonymous_variant	0	exon5			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1692C>T	12.37:g.133502193G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132012266	NM_001164715	B3KVG4|D3DXJ0|Q86T91	IGR	SNP	ENST00000360187.4	37	CCDS31938.1																																																																																				0.398	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238	
ZNF605	100289635	broad.mit.edu	37	12	133503088	133503088	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133503088G>A	ENST00000360187.4	-	5	1145	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.S297L	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	266					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)	p.S266L(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TTTAAGCTGCGACTTCCTACT	0.418																																					p.S297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890T	12						.																																			132013161	SO:0001583	missense	0	exon5			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.797C>T	12.37:g.133503088G>A	ENSP00000353314:p.Ser266Leu	Somatic		Capture	Illumina HiSeq	Phase_I	132013161	NM_001164715	B3KVG4|D3DXJ0|Q86T91	IGR	SNP	ENST00000360187.4	37	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406960	0.42715	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.07444	3.19;3.19	3.3	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28257	N	0.016003	T	0.09642	0.0237	L	0.60455	1.87	0.09310	N	1	D;P	0.56968	0.978;0.892	B;B	0.41440	0.357;0.163	T	0.22556	-1.0213	10	0.66056	D	0.02	.	10.7871	0.46411	0.0:0.3153:0.6847:0.0	.	297;266	B3KVG4;Q86T29	.;ZN605_HUMAN	L	266;297	ENSP00000353314:S266L;ENSP00000376135:S297L	ENSP00000353314:S266L	S	-	2	0	ZNF605	132013161	0.000000	0.05858	0.978000	0.43139	0.902000	0.53008	0.300000	0.19156	1.881000	0.54492	0.491000	0.48974	TCG		0.418	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238	
ZNF26	7574	broad.mit.edu	37	12	133587830	133587830	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133587830A>C	ENST00000328654.5	+	4	1742	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	ZNF26_ENST00000534834.1_Missense_Mutation_p.E435D	NM_019591.3	NP_062537.2	P17031	ZNF26_HUMAN	zinc finger protein 26	455					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)	p.E455D(1)		autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431)		OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05)		AGCCCTATGAATGCAATGAAT	0.408																																					p.E455D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1365C	12						.						1.0	0.0	1.0					12																	133587830		1	0	1	132097903	SO:0001583	missense	7574	exon4			X52351	CCDS31939.1	12q24.33	2013-01-08	2006-05-10		ENSG00000198393	ENSG00000198393		"""Zinc fingers, C2H2-type"", ""-"""	13053	protein-coding gene	gene with protein product		194537	"""zinc finger protein 26 (KOX 20)"""				Standard	NM_001256279		Approved	KOX20, FLJ20755	uc031qkj.1	P17031	OTTHUMG00000167936	ENST00000328654.5:c.1365A>C	12.37:g.133587830A>C	ENSP00000333725:p.Glu455Asp	Somatic		Capture	Illumina HiSeq	Phase_I	132097903	NM_019591	Q86X57|Q9NWL3	Missense_Mutation	SNP	ENST00000328654.5	37	CCDS31939.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053560	0.36277	.	.	ENSG00000198393	ENST00000328654;ENST00000534834	T;T	0.22134	1.97;1.97	3.98	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34580	N	0.003845	T	0.22742	0.0549	L	0.53561	1.675	0.09310	N	1	P	0.47191	0.891	P	0.51866	0.682	T	0.11036	-1.0604	9	.	.	.	.	5.8659	0.18775	0.4181:0.0:0.4418:0.1401	.	455	P17031	ZNF26_HUMAN	D	455;435	ENSP00000333725:E455D;ENSP00000437420:E435D	.	E	+	3	2	ZNF26	132097903	0.000000	0.05858	0.618000	0.29105	0.660000	0.38997	-1.786000	0.01766	-0.693000	0.05121	-0.361000	0.07541	GAA		0.408	ZNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397145.2	NM_019591	
ZNF84	7637	broad.mit.edu	37	12	133635003	133635003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133635003G>T	ENST00000327668.7	+	5	2282	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	ZNF84_ENST00000543758.1_Nonsense_Mutation_p.E567*|ZNF84_ENST00000392319.2_Nonsense_Mutation_p.E568*|ZNF84_ENST00000539354.1_Nonsense_Mutation_p.E568*|ZNF84_ENST00000535439.1_Intron			P51523	ZNF84_HUMAN	zinc finger protein 84	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E568*(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		TCATACTGGAGAAAAACCGTA	0.443																																					p.E568X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1702T	12						.																																			132145076	SO:0001587	stop_gained	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.1702G>T	12.37:g.133635003G>T	ENSP00000331465:p.Glu568*	Somatic		Capture	Illumina HiSeq	Phase_I	132145076	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Nonsense_Mutation	SNP	ENST00000327668.7	37	CCDS31940.1	.	.	.	.	.	.	.	.	.	.	G	42	9.273981	0.99122	.	.	ENSG00000198040	ENST00000392319;ENST00000543758;ENST00000539354;ENST00000327668	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.7582	0.57347	0.0:0.0:1.0:0.0	.	.	.	.	X	568;567;568;568	.	ENSP00000331465:E568X	E	+	1	0	ZNF84	132145076	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.750000	0.68712	1.567000	0.49668	0.305000	0.20034	GAA		0.443	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
ZNF84	7637	broad.mit.edu	37	12	133635409	133635409	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133635409G>T	ENST00000327668.7	+	5	2688	c.2108G>T	c.(2107-2109)aGa>aTa	p.R703I	ZNF84_ENST00000543758.1_Missense_Mutation_p.R702I|ZNF84_ENST00000392319.2_Missense_Mutation_p.R703I|ZNF84_ENST00000539354.1_Missense_Mutation_p.R703I|ZNF84_ENST00000535439.1_Intron			P51523	ZNF84_HUMAN	zinc finger protein 84	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R703I(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		AATCATCAGAGAATTCATACA	0.423																																					p.R703I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2108T	12						.																																			132145482	SO:0001583	missense	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.2108G>T	12.37:g.133635409G>T	ENSP00000331465:p.Arg703Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132145482	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Missense_Mutation	SNP	ENST00000327668.7	37	CCDS31940.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606955	0.28623	.	.	ENSG00000198040	ENST00000392319;ENST00000543758;ENST00000539354;ENST00000327668	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.66	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34106	0.0886	M	0.66439	2.03	0.34706	D	0.727259	D	0.63046	0.992	P	0.54312	0.748	T	0.50092	-0.8868	9	0.59425	D	0.04	.	4.7427	0.13022	0.1357:0.0:0.6472:0.2171	.	703	P51523	ZNF84_HUMAN	I	703;702;703;703	ENSP00000376133:R703I;ENSP00000437949:R702I;ENSP00000445549:R703I;ENSP00000331465:R703I	ENSP00000331465:R703I	R	+	2	0	ZNF84	132145482	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	0.935000	0.28924	1.474000	0.48178	0.305000	0.20034	AGA		0.423	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
ZNF10	7556	broad.mit.edu	37	12	133732193	133732193	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133732193C>A	ENST00000248211.6	+	5	583	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	ZNF10_ENST00000426665.2_Missense_Mutation_p.L121I|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.L121I|ZNF10_ENST00000402932.2_Missense_Mutation_p.L121I|ZNF268_ENST00000416488.1_Missense_Mutation_p.L121I	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L121I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAGGAATGATCTCTGGTATTT	0.393																																					p.L121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361A	12						.						89.0	85.0	86.0					12																	133732193		2203	4300	6503	132242266	SO:0001583	missense	7556	exon5			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.361C>A	12.37:g.133732193C>A	ENSP00000248211:p.Leu121Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132242266	NM_015394	B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304720	0.23736	.	.	ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000090612	ENST00000248211;ENST00000426665;ENST00000402932;ENST00000537119;ENST00000416488	T;T;T;T;T	0.05081	3.5;3.5;3.6;4.65;5.82	4.44	4.44	0.53790	.	0.230769	0.22392	N	0.060664	T	0.08313	0.0207	N	0.24115	0.695	0.80722	D	1	D	0.53885	0.963	P	0.50082	0.63	T	0.43893	-0.9363	9	.	.	.	.	14.9472	0.71042	0.0:1.0:0.0:0.0	.	121	P21506	ZNF10_HUMAN	I	121;121;121;79;121	ENSP00000248211:L121I;ENSP00000393814:L121I;ENSP00000384893:L121I;ENSP00000437397:L79I;ENSP00000409295:L121I	.	L	+	1	0	ZNF10;ZNF268	132242266	0.025000	0.19082	0.942000	0.38095	0.901000	0.52897	2.320000	0.43797	2.460000	0.83146	0.655000	0.94253	CTC		0.393	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
IQSEC3	440073	broad.mit.edu	37	12	266754	266754	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:266754C>A	ENST00000538872.1	+	7	2455	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	IQSEC3_ENST00000382841.2_Silent_p.I476I|IQSEC3_ENST00000326261.4_Silent_p.I779I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	779	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.I476I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGACACCATCTTCATCCTCG	0.592																																					p.I779I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2337A	12						.						321.0	219.0	253.0					12																	266754		2203	4300	6503	137015	SO:0001819	synonymous_variant	440073	exon7			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2337C>A	12.37:g.266754C>A		Somatic		Capture	Illumina HiSeq	Phase_I	137015	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																				0.592	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
SLC6A12	6539	broad.mit.edu	37	12	307155	307155	+	Silent	SNP	C	C	T	rs202060928		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:307155C>T	ENST00000428720.1	-	9	1604	c.861G>A	c.(859-861)gcG>gcA	p.A287A	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Silent_p.A287A|SLC6A12_ENST00000359674.4_Silent_p.A287A|SLC6A12_ENST00000536824.1_Silent_p.A287A|SLC6A12_ENST00000424061.2_Silent_p.A287A	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	287					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A287A(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCTGGGTGCCCGCATCCATCC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		14987	0.001		0.0	False		,,,				2504	0.0				p.A287A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G861A	12						.						82.0	90.0	88.0					12																	307155		2203	4300	6503	177416	SO:0001819	synonymous_variant	6539	exon9			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.861G>A	12.37:g.307155C>T		Somatic		Capture	Illumina HiSeq	Phase_I	177416	NM_001122848	A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	CCDS8501.1																																																																																				0.587	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
SLC6A13	6540	broad.mit.edu	37	12	351897	351897	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:351897T>C	ENST00000343164.4	-	4	413	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	121					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.I121V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGGATGACGATCATCTGGGAG	0.577																																					p.I121V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A361G	12						.						104.0	72.0	83.0					12																	351897		2203	4300	6503	222158	SO:0001583	missense	6540	exon4			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.361A>G	12.37:g.351897T>C	ENSP00000339260:p.Ile121Val	Somatic		Capture	Illumina HiSeq	Phase_I	222158	NM_016615	B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068625	0.55539	.	.	ENSG00000010379	ENST00000313154;ENST00000343164	T	0.73681	-0.77	5.61	5.61	0.85477	.	0.046975	0.85682	D	0.000000	T	0.77955	0.4208	L	0.37897	1.145	0.80722	D	1	B;B	0.26445	0.149;0.064	P;B	0.47134	0.539;0.416	T	0.75306	-0.3364	10	0.37606	T	0.19	.	15.7982	0.78428	0.0:0.0:0.0:1.0	.	100;121	B4DJS3;Q9NSD5	.;S6A13_HUMAN	V	100;121	ENSP00000339260:I121V	ENSP00000318097:I100V	I	-	1	0	SLC6A13	222158	1.000000	0.71417	0.961000	0.40146	0.990000	0.78478	6.282000	0.72639	2.123000	0.65237	0.459000	0.35465	ATC		0.577	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
KDM5A	5927	broad.mit.edu	37	12	402187	402187	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:402187T>A	ENST00000399788.2	-	27	4966	c.4604A>T	c.(4603-4605)aAg>aTg	p.K1535M	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Missense_Mutation_p.K1535M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1535	Lys-rich.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K1540M(1)|p.K1535M(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAATTTCTTCTTTCTAGGTTT	0.373			T	NUP98	AML																																p.K1535M			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4604T	12						.						133.0	124.0	126.0					12																	402187		1806	4075	5881	272448	SO:0001583	missense	5927	exon27				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4604A>T	12.37:g.402187T>A	ENSP00000382688:p.Lys1535Met	Somatic		Capture	Illumina HiSeq	Phase_I	272448	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376594	0.82682	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.86297	-2.1;-2.0	5.77	5.77	0.91146	.	0.047258	0.85682	D	0.000000	D	0.91768	0.7396	L	0.53249	1.67	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91752	0.5413	10	0.49607	T	0.09	-21.6238	16.0828	0.81017	0.0:0.0:0.0:1.0	.	1535;1535	P29375;P29375-2	KDM5A_HUMAN;.	M	1535	ENSP00000382688:K1535M;ENSP00000372265:K1535M	ENSP00000372265:K1535M	K	-	2	0	KDM5A	272448	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.018000	0.88722	2.199000	0.70637	0.528000	0.53228	AAG		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
WNK1	65125	broad.mit.edu	37	12	1006698	1006698	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:1006698C>A	ENST00000315939.6	+	25	6942	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y	WNK1_ENST00000530271.2_Missense_Mutation_p.S2598Y|WNK1_ENST00000535572.1_Missense_Mutation_p.S1852Y|WNK1_ENST00000340908.4_Missense_Mutation_p.S1693Y|WNK1_ENST00000537687.1_Missense_Mutation_p.S2360Y	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2100					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S2360Y(1)|p.S2100Y(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAATTGAATCTTTGTATACC	0.453																																					p.S2352Y	Colon(19;451 567 6672 12618 28860)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7055A	12						.						87.0	89.0	88.0					12																	1006698		2203	4300	6503	876959	SO:0001583	missense	65125	exon25			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6299C>A	12.37:g.1006698C>A	ENSP00000313059:p.Ser2100Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	876959	NM_213655	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492415	0.44352	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	T;T;T;T;T	0.70869	-0.52;-0.47;-0.48;-0.5;0.69	5.03	3.03	0.35002	.	0.123824	0.36932	N	0.002330	T	0.64994	0.2649	L	0.29908	0.895	0.34627	D	0.71917	D;D;D	0.59767	0.986;0.986;0.976	P;P;P	0.54100	0.742;0.742;0.556	T	0.72643	-0.4231	10	0.72032	D	0.01	-8.8637	6.1409	0.20259	0.0:0.5424:0.3034:0.1542	.	1853;1852;2100	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Y	1852;2100;2360;1273;2598;42;1693	ENSP00000441972:S1852Y;ENSP00000313059:S2100Y;ENSP00000444465:S2360Y;ENSP00000433548:S2598Y;ENSP00000341292:S1693Y	ENSP00000252477:S1273Y	S	+	2	0	WNK1	876959	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.040000	0.30278	1.058000	0.40530	0.561000	0.74099	TCT		0.453	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
CACNA1C	775	broad.mit.edu	37	12	2702465	2702465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:2702465C>T	ENST00000347598.4	+	19	2617	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	CACNA1C_ENST00000402845.3_Missense_Mutation_p.P873S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P898S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P873S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P873S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P873S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P873S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P873S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	873					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P903S(1)|p.P873S(1)|p.P408S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAGGCAGTGCCCATGCCAGA	0.557																																					p.P873S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2617T	12						.						71.0	72.0	71.0					12																	2702465		2004	4176	6180	2572726	SO:0001583	missense	775	exon19			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2617C>T	12.37:g.2702465C>T	ENSP00000266376:p.Pro873Ser	Somatic		Capture	Illumina HiSeq	Phase_I	2572726	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965775	0.92855	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96554	-4.01;-3.99;-3.96;-3.99;-3.97;-3.99;-4.0;-3.89;-3.93;-3.99;-3.91;-3.94;-3.99;-4.02;-3.89;-3.82;-4.05;-4.01;-3.99;-4.02;-3.92;-4.01;-4.04	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.999;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.998;0.994;1.0;0.999;0.998;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;0.986;0.997;0.999;0.999;0.999;0.998;0.976;0.999;0.999;0.99;0.999;0.996;0.999;0.994;0.95;0.999;0.986;0.994;0.999;0.999;0.999;0.991;0.999	D	0.99136	1.0854	10	0.87932	D	0	.	18.1721	0.89749	0.0:1.0:0.0:0.0	.	873;870;873;873;873;873;873;873;873;873;873;873;844;873;873;873;873;873;873;873;873;873;873;873;873;873	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	898;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;873;714	ENSP00000336982:P898S;ENSP00000382563:P873S;ENSP00000437936:P873S;ENSP00000382552:P873S;ENSP00000382547:P873S;ENSP00000382506:P873S;ENSP00000382530:P873S;ENSP00000382546:P873S;ENSP00000382500:P873S;ENSP00000382549:P873S;ENSP00000266376:P873S;ENSP00000382515:P873S;ENSP00000382510:P873S;ENSP00000341092:P873S;ENSP00000382537:P873S;ENSP00000329877:P873S;ENSP00000382557:P873S;ENSP00000385724:P873S;ENSP00000382512:P873S;ENSP00000382542:P873S;ENSP00000382526:P873S;ENSP00000385896:P873S;ENSP00000382504:P873S	ENSP00000323129:P714S	P	+	1	0	CACNA1C	2572726	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.651000	0.83577	2.541000	0.85698	0.462000	0.41574	CCC		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
C12orf4	57102	broad.mit.edu	37	12	4628012	4628012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4628012C>A	ENST00000261250.3	-	7	850	c.763G>T	c.(763-765)Gaa>Taa	p.E255*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E255*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	255								p.E255*(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TCTACAGATTCTCTGAACTGA	0.289																																					p.E255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G763T	12						.						73.0	70.0	71.0					12																	4628012		2202	4296	6498	4498273	SO:0001587	stop_gained	57102	exon7			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.763G>T	12.37:g.4628012C>A	ENSP00000261250:p.Glu255*	Somatic		Capture	Illumina HiSeq	Phase_I	4498273	NM_020374	D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195385	0.97367	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.1	5.1	0.69264	.	0.092927	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	18.3049	0.90177	0.0:1.0:0.0:0.0	.	.	.	.	X	255;255;82	.	ENSP00000261250:E255X	E	-	1	0	C12orf4	4498273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.191000	0.65110	2.637000	0.89404	0.585000	0.79938	GAA		0.289	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
C12orf4	57102	broad.mit.edu	37	12	4634440	4634440	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4634440G>T	ENST00000261250.3	-	6	795	c.708C>A	c.(706-708)aaC>aaA	p.N236K	C12orf4_ENST00000545746.1_Missense_Mutation_p.N236K	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	236								p.N236K(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGTTGTTGGGGTTTTTTAGGT	0.303																																					p.N236K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C708A	12						.						192.0	202.0	199.0					12																	4634440		2203	4300	6503	4504701	SO:0001583	missense	57102	exon6			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.708C>A	12.37:g.4634440G>T	ENSP00000261250:p.Asn236Lys	Somatic		Capture	Illumina HiSeq	Phase_I	4504701	NM_020374	D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626168	0.28978	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.04	2.18	0.27775	.	0.043348	0.85682	D	0.000000	T	0.41811	0.1175	L	0.35723	1.085	0.53005	D	0.999962	B	0.09022	0.002	B	0.14578	0.011	T	0.17684	-1.0361	9	0.30854	T	0.27	.	6.9971	0.24789	0.4705:0.0:0.5295:0.0	.	236	Q9NQ89	CL004_HUMAN	K	236;236;63	.	ENSP00000261250:N236K	N	-	3	2	C12orf4	4504701	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.029000	0.30140	0.657000	0.30906	0.462000	0.41574	AAC		0.303	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
RAD51AP1	10635	broad.mit.edu	37	12	4665525	4665525	+	Missense_Mutation	SNP	C	C	T	rs35416516		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4665525C>T	ENST00000352618.4	+	8	778	c.728C>T	c.(727-729)tCg>tTg	p.S243L	RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S260L|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S125L	NM_006479.4	NP_006470.1			RAD51 associated protein 1									p.S243L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TAAGTGACTTCGGTGGACTCT	0.353																																					p.S243L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C728T	12						.						66.0	65.0	66.0					12																	4665525		2203	4300	6503	4535786	SO:0001583	missense	10635	exon8			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.728C>T	12.37:g.4665525C>T	ENSP00000309479:p.Ser243Leu	Somatic		Capture	Illumina HiSeq	Phase_I	4535786	NM_006479		Missense_Mutation	SNP	ENST00000352618.4	37	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	C	5.468	0.271320	0.10349	.	.	ENSG00000111247	ENST00000543041;ENST00000228843;ENST00000352618	T;T;T	0.42131	0.98;0.98;0.98	4.51	2.69	0.31865	.	0.439021	0.19112	N	0.122407	T	0.34308	0.0893	L	0.55103	1.725	0.24245	N	0.995343	B;B;B;B	0.24651	0.108;0.022;0.098;0.054	B;B;B;B	0.16722	0.014;0.007;0.016;0.007	T	0.33059	-0.9883	10	0.87932	D	0	-9.1588	6.4613	0.21958	0.0:0.7823:0.0:0.2177	.	125;260;260;243	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	L	125;260;243	ENSP00000439960:S125L;ENSP00000228843:S260L;ENSP00000309479:S243L	ENSP00000228843:S260L	S	+	2	0	RAD51AP1	4535786	0.874000	0.30092	0.265000	0.24526	0.016000	0.09150	1.618000	0.36954	0.537000	0.28751	0.591000	0.81541	TCG		0.353	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479	
AKAP3	10566	broad.mit.edu	37	12	4736597	4736597	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4736597C>A	ENST00000545990.2	-	5	1995	c.1471G>T	c.(1471-1473)Gac>Tac	p.D491Y	AKAP3_ENST00000228850.1_Missense_Mutation_p.D491Y|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	491					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.D491Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGGAAATGTCTGATGCAGGC	0.448																																					p.D491Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1471T	12						.						71.0	67.0	68.0					12																	4736597		2203	4300	6503	4606858	SO:0001583	missense	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1471G>T	12.37:g.4736597C>A	ENSP00000440994:p.Asp491Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	4606858	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367310	0.24771	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09445	2.98;2.98	5.44	4.32	0.51571	A-kinase anchor 110kDa, C-terminal (1);	0.598474	0.17009	N	0.190613	T	0.19565	0.0470	L	0.51422	1.61	0.09310	N	0.999992	D	0.59767	0.986	P	0.59948	0.866	T	0.08249	-1.0731	10	0.87932	D	0	-14.2767	5.7882	0.18345	0.0:0.8015:0.0:0.1985	.	491	O75969	AKAP3_HUMAN	Y	491	ENSP00000228850:D491Y;ENSP00000440994:D491Y	ENSP00000228850:D491Y	D	-	1	0	AKAP3	4606858	0.564000	0.26602	0.106000	0.21319	0.009000	0.06853	1.937000	0.40193	2.715000	0.92844	0.655000	0.94253	GAC		0.448	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
AKAP3	10566	broad.mit.edu	37	12	4737323	4737323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4737323G>A	ENST00000545990.2	-	5	1269	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	AKAP3_ENST00000228850.1_Missense_Mutation_p.R249C|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	249					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R249C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTCCATTACGAGATTCAAAC	0.463																																					p.R249C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745T	12						.						99.0	98.0	98.0					12																	4737323		2203	4300	6503	4607584	SO:0001583	missense	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.745C>T	12.37:g.4737323G>A	ENSP00000440994:p.Arg249Cys	Somatic		Capture	Illumina HiSeq	Phase_I	4607584	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654065	0.29425	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08720	3.06;3.06	4.88	3.98	0.46160	A-kinase anchor 110kDa, C-terminal (1);	0.364843	0.24334	N	0.039427	T	0.10508	0.0257	M	0.65975	2.015	0.40308	D	0.978685	B	0.19073	0.033	B	0.15484	0.013	T	0.04840	-1.0923	10	0.87932	D	0	-5.9186	7.3412	0.26637	0.0906:0.1683:0.7411:0.0	.	249	O75969	AKAP3_HUMAN	C	249	ENSP00000228850:R249C;ENSP00000440994:R249C	ENSP00000228850:R249C	R	-	1	0	AKAP3	4607584	0.974000	0.33945	0.940000	0.37924	0.162000	0.22319	1.970000	0.40520	1.394000	0.46624	0.655000	0.94253	CGT		0.463	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
NDUFA9	4704	broad.mit.edu	37	12	4796149	4796149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4796149G>T	ENST00000266544.5	+	11	1029	c.1009G>T	c.(1009-1011)Gac>Tac	p.D337Y	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.D96Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	337					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.D337Y(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGGCTTAGAAGACCTTGGTAT	0.488																																					p.D337Y	Colon(75;996 1244 23946 25294 29232)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009T	12						.						105.0	84.0	91.0					12																	4796149		2203	4300	6503	4666410	SO:0001583	missense	4704	exon11			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1009G>T	12.37:g.4796149G>T	ENSP00000266544:p.Asp337Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	4666410	NM_005002	Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453489	0.63290	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	T;D	0.85171	-1.47;-1.95	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.94278	0.7517	10	0.87932	D	0	-2.819	17.528	0.87807	0.0:0.0:1.0:0.0	.	337	Q16795	NDUA9_HUMAN	Y	337;96	ENSP00000266544:D337Y;ENSP00000439818:D96Y	ENSP00000266544:D337Y	D	+	1	0	NDUFA9	4666410	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	8.828000	0.92047	2.496000	0.84212	0.655000	0.94253	GAC		0.488	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002	
GALNT8	26290	broad.mit.edu	37	12	4855382	4855382	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4855382A>T	ENST00000252318.2	+	6	1468	c.1131A>T	c.(1129-1131)ggA>ggT	p.G377G		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	377	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G377G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGGATGGTGGAATGCTCATCT	0.493																																					p.G377G	Colon(108;631 1558 7270 20097 39846)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1131T	12						.						175.0	161.0	166.0					12																	4855382		2203	4300	6503	4725643	SO:0001819	synonymous_variant	26290	exon6			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1131A>T	12.37:g.4855382A>T		Somatic		Capture	Illumina HiSeq	Phase_I	4725643	NM_017417	B2RU02	Silent	SNP	ENST00000252318.2	37	CCDS8533.1																																																																																				0.493	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	
KCNA6	3742	broad.mit.edu	37	12	4919634	4919634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:4919634G>A	ENST00000280684.3	+	1	1293	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNA6_ENST00000433855.1_Missense_Mutation_p.E143K|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.E143K(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTGCCTGCCCGAAGGTGGCGA	0.677										HNSCC(72;0.22)																											p.E143K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	12						.						33.0	38.0	36.0					12																	4919634		2203	4300	6503	4789895	SO:0001583	missense	3742	exon1			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.427G>A	12.37:g.4919634G>A	ENSP00000280684:p.Glu143Lys	Somatic		Capture	Illumina HiSeq	Phase_I	4789895	NM_002235		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743567	0.49151	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97665	-4.48;-4.48	4.87	4.87	0.63330	.	0.000000	0.40222	N	0.001153	D	0.96436	0.8837	N	0.25647	0.755	0.44098	D	0.996868	D	0.76494	0.999	D	0.68621	0.959	D	0.94841	0.8005	10	0.22109	T	0.4	.	15.3337	0.74234	0.0:0.0:1.0:0.0	.	143	P17658	KCNA6_HUMAN	K	143	ENSP00000408321:E143K;ENSP00000280684:E143K	ENSP00000280684:E143K	E	+	1	0	KCNA6	4789895	0.974000	0.33945	0.748000	0.31131	0.983000	0.72400	2.675000	0.46875	2.524000	0.85096	0.563000	0.77884	GAA		0.677	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
KCNA1	3736	broad.mit.edu	37	12	5020764	5020764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:5020764G>A	ENST00000382545.3	+	2	1327	c.220G>A	c.(220-222)Gac>Aac	p.D74N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	74					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.D74N(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCGCTACTTCGACCCCCTGAG	0.627																																					p.D74N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	12						.						65.0	66.0	66.0					12																	5020764		2203	4300	6503	4891025	SO:0001583	missense	3736	exon2			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.220G>A	12.37:g.5020764G>A	ENSP00000371985:p.Asp74Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4891025	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021929	0.75275	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.77098	-1.07	4.34	3.43	0.39272	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85835	0.5789	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86011	0.1501	10	0.49607	T	0.09	.	12.9508	0.58399	0.0:0.0:0.8368:0.1632	.	74	Q09470	KCNA1_HUMAN	N	74	ENSP00000371985:D74N	ENSP00000228858:D74N	D	+	1	0	KCNA1	4891025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.531000	0.98054	1.152000	0.42452	0.650000	0.86243	GAC		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622																																					p.A170T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	12						.						81.0	81.0	81.0					12																	5021052		2203	4300	6503	4891313	SO:0001583	missense	3736	exon2			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.508G>A	12.37:g.5021052G>A	ENSP00000371985:p.Ala170Thr	Somatic		Capture	Illumina HiSeq	Phase_I	4891313	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	KCNA1	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC		0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
KCNA1	3736	broad.mit.edu	37	12	5021428	5021428	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:5021428G>A	ENST00000382545.3	+	2	1991	c.884G>A	c.(883-885)cGc>cAc	p.R295H	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	295					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.R295H(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGGGTCATCCGCTTGGTAAGG	0.552																																					p.R295H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884A	12						.						60.0	65.0	63.0					12																	5021428		2203	4300	6503	4891689	SO:0001583	missense	3736	exon2			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.884G>A	12.37:g.5021428G>A	ENSP00000371985:p.Arg295His	Somatic		Capture	Illumina HiSeq	Phase_I	4891689	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384157	0.82792	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.99239	-5.61	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97177	0.9848	10	0.87932	D	0	.	18.0083	0.89216	0.0:0.0:1.0:0.0	.	295	Q09470	KCNA1_HUMAN	H	295	ENSP00000371985:R295H	ENSP00000228858:R295H	R	+	2	0	KCNA1	4891689	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	9.531000	0.98054	2.793000	0.96121	0.655000	0.94253	CGC		0.552	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
VWF	7450	broad.mit.edu	37	12	6085383	6085383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6085383C>A	ENST00000261405.5	-	43	7585	c.7331G>T	c.(7330-7332)tGg>tTg	p.W2444L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2444	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.W2444L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCCTCCTCCCAGAACTGGCC	0.567																																					p.W2444L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7331T	12						.						91.0	74.0	80.0					12																	6085383		2203	4300	6503	5955644	SO:0001583	missense	7450	exon43				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7331G>T	12.37:g.6085383C>A	ENSP00000261405:p.Trp2444Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5955644	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035741	0.75617	.	.	ENSG00000110799	ENST00000261405	T	0.78707	-1.2	5.38	5.38	0.77491	von Willebrand factor, type C (3);	0.000000	0.38959	N	0.001507	D	0.86037	0.5837	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84781	0.0773	10	0.37606	T	0.19	.	16.2957	0.82768	0.0:1.0:0.0:0.0	.	2444	P04275	VWF_HUMAN	L	2444	ENSP00000261405:W2444L	ENSP00000261405:W2444L	W	-	2	0	VWF	5955644	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.643000	0.74334	2.518000	0.84900	0.591000	0.81541	TGG		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6101139	6101139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6101139C>T	ENST00000261405.5	-	38	6898	c.6644G>A	c.(6643-6645)gGc>gAc	p.G2215D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2215					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.G2215D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCGGGGACAGCCATGCTCACA	0.552																																					p.G2215D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6644A	12						.						109.0	85.0	93.0					12																	6101139		2203	4300	6503	5971400	SO:0001583	missense	7450	exon38				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6644G>A	12.37:g.6101139C>T	ENSP00000261405:p.Gly2215Asp	Somatic		Capture	Illumina HiSeq	Phase_I	5971400	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	c	12.47	1.949076	0.34377	.	.	ENSG00000110799	ENST00000261405	D	0.90563	-2.69	5.63	1.6	0.23607	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.152990	0.30820	N	0.008811	T	0.81574	0.4851	L	0.38838	1.175	0.80722	D	1	B	0.21688	0.059	B	0.21917	0.037	T	0.69510	-0.5126	10	0.25751	T	0.34	.	3.7808	0.08680	0.1119:0.5536:0.1207:0.2137	.	2215	P04275	VWF_HUMAN	D	2215	ENSP00000261405:G2215D	ENSP00000261405:G2215D	G	-	2	0	VWF	5971400	0.312000	0.24545	0.934000	0.37439	0.884000	0.51177	0.367000	0.20382	0.734000	0.32515	0.637000	0.83480	GGC		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
NCAPD2	9918	broad.mit.edu	37	12	6632016	6632016	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6632016C>A	ENST00000315579.5	+	16	2776	c.1977C>A	c.(1975-1977)ttC>ttA	p.F659L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.F614L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	659					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.F659L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGATTGAATTCTTTGTGATGG	0.507																																					p.F659L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1977A	12						.						295.0	260.0	272.0					12																	6632016		2203	4300	6503	6502277	SO:0001583	missense	9918	exon16			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1977C>A	12.37:g.6632016C>A	ENSP00000325017:p.Phe659Leu	Somatic		Capture	Illumina HiSeq	Phase_I	6502277	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411196	0.83340	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.10668	2.85;2.85;2.85	5.93	3.04	0.35103	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.59912	1.85	0.58432	D	0.999991	D;P;D	0.89917	1.0;0.791;0.987	D;P;D	0.80764	0.994;0.561;0.914	T	0.00265	-1.1865	10	0.36615	T	0.2	-24.4991	10.4149	0.44316	0.0:0.7807:0.0:0.2193	.	614;620;659	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	659;531;614;531	ENSP00000325017:F659L;ENSP00000371895:F531L;ENSP00000444417:F614L	ENSP00000325017:F659L	F	+	3	2	NCAPD2	6502277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.345000	0.44018	0.361000	0.24292	0.561000	0.74099	TTC		0.507	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
NOP2	4839	broad.mit.edu	37	12	6670878	6670878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6670878G>A	ENST00000322166.5	-	11	1280	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	NOP2_ENST00000545200.1_Missense_Mutation_p.R383W|NOP2_ENST00000541778.1_Missense_Mutation_p.R383W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.R383W|NOP2_ENST00000382421.3_Missense_Mutation_p.R420W|NOP2_ENST00000537442.1_Missense_Mutation_p.R387W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	387					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R383W(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCAGGATCCGCTCATGTTCC	0.592																																					p.R383W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	12						.						37.0	40.0	39.0					12																	6670878		2035	4178	6213	6541139	SO:0001583	missense	4839	exon11				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1159C>T	12.37:g.6670878G>A	ENSP00000313272:p.Arg387Trp	Somatic		Capture	Illumina HiSeq	Phase_I	6541139	NM_006170	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108978	0.56398	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.44	5.44	0.79542	.	0.223004	0.45361	D	0.000376	T	0.42765	0.1217	M	0.90145	3.09	0.80722	D	1	B;B	0.28552	0.126;0.215	B;B	0.27715	0.082;0.073	T	0.51442	-0.8705	10	0.87932	D	0	-23.9023	19.2531	0.93933	0.0:0.0:1.0:0.0	.	383;383	Q05BA7;P46087-2	.;.	W	387;420;383;383;387;383;263	ENSP00000444437:R387W;ENSP00000371858:R420W;ENSP00000439422:R383W;ENSP00000382392:R383W;ENSP00000313272:R387W;ENSP00000443150:R383W;ENSP00000440754:R263W	ENSP00000313272:R387W	R	-	1	2	NOP2	6541139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.060000	0.41394	2.536000	0.85505	0.561000	0.74099	CGG		0.592	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
CHD4	1108	broad.mit.edu	37	12	6709475	6709475	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6709475G>T	ENST00000357008.2	-	9	1313	c.1150C>A	c.(1150-1152)Ctg>Atg	p.L384M	CHD4_ENST00000544484.1_Missense_Mutation_p.L381M|CHD4_ENST00000544040.1_Missense_Mutation_p.L377M|CHD4_ENST00000309577.6_Missense_Mutation_p.L384M	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	384					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L384M(2)		central_nervous_system(2)	2						GTATCACACAGGATGATCTCA	0.587																																					p.L384M	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1150A	12						.						175.0	158.0	163.0					12																	6709475		2203	4300	6503	6579736	SO:0001583	missense	1108	exon9			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1150C>A	12.37:g.6709475G>T	ENSP00000349508:p.Leu384Met	Somatic		Capture	Illumina HiSeq	Phase_I	6579736	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469377	0.63625	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	4.18	4.18	0.49190	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	D	0.91392	0.7284	M	0.79123	2.44	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.998;1.0;0.997	D	0.92184	0.5754	10	0.87932	D	0	2.0755	12.5977	0.56478	0.0835:0.0:0.9165:0.0	.	384;384;377	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	M	381;377;384;384;358	ENSP00000440392:L381M;ENSP00000440542:L377M;ENSP00000312419:L384M;ENSP00000349508:L384M	ENSP00000312419:L384M	L	-	1	2	CHD4	6579736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.404000	0.59735	2.316000	0.78162	0.561000	0.74099	CTG		0.587	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
CD4	920	broad.mit.edu	37	12	6909588	6909588	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6909588C>T	ENST00000011653.4	+	3	423	c.165C>T	c.(163-165)aaC>aaT	p.N55N	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	55	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.N55N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACTGGAAAAACTCCAACCAGA	0.478																																					p.N55N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	12						.						65.0	69.0	68.0					12																	6909588		2203	4300	6503	6779849	SO:0001819	synonymous_variant	920	exon3			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.165C>T	12.37:g.6909588C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6779849	NM_000616	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	CCDS8562.1																																																																																				0.478	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	
CD4	920	broad.mit.edu	37	12	6927642	6927642	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6927642C>T	ENST00000011653.4	+	8	1470	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	404					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TGCTGGGGGGCGTCGCCGGCC	0.627																																					p.G131G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	12						.						79.0	75.0	76.0					12																	6927642		2203	4300	6503	6797903	SO:0001819	synonymous_variant	920	exon6			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1212C>T	12.37:g.6927642C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6797903	NM_001195016	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	CCDS8562.1																																																																																				0.627	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	
GNB3	2784	broad.mit.edu	37	12	6952590	6952590	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6952590T>G	ENST00000229264.3	+	7	736	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.F111V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	111					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.F111V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCAGGGAACTTTGTGGCATG	0.587																																					p.F111V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T331G	12						.						102.0	95.0	97.0					12																	6952590		2203	4300	6503	6822851	SO:0001583	missense	2784	exon7				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.331T>G	12.37:g.6952590T>G	ENSP00000229264:p.Phe111Val	Somatic		Capture	Illumina HiSeq	Phase_I	6822851	NM_002075	Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640621	0.47153	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.105066	0.64402	D	0.000002	T	0.62575	0.2439	M	0.73962	2.25	0.48901	D	0.999726	B;B	0.19073	0.033;0.033	B;B	0.32149	0.141;0.098	T	0.63014	-0.6731	10	0.46703	T	0.11	-24.2609	14.7772	0.69738	0.0:0.0:0.0:1.0	.	111;111	E9PCP0;P16520	.;GBB3_HUMAN	V	111	ENSP00000229264:F111V;ENSP00000442002:F111V;ENSP00000414734:F111V;ENSP00000445967:F111V	ENSP00000229264:F111V	F	+	1	0	GNB3	6822851	1.000000	0.71417	0.998000	0.56505	0.677000	0.39632	4.647000	0.61418	2.079000	0.62486	0.402000	0.26972	TTT		0.587	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
USP5	8078	broad.mit.edu	37	12	6972378	6972378	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:6972378C>T	ENST00000229268.8	+	15	1843	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	USP5_ENST00000389231.5_Silent_p.L597L|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	597	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.L597L(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGAGGAGCTCGACATCTCCC	0.612																																					p.L597L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1791T	12						.						64.0	62.0	63.0					12																	6972378		2203	4300	6503	6842639	SO:0001819	synonymous_variant	8078	exon15			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1791C>T	12.37:g.6972378C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6842639	NM_003481	D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	CCDS41743.1																																																																																				0.612	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		
LRRC23	10233	broad.mit.edu	37	12	7016473	7016473	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7016473C>A	ENST00000007969.8	+	5	710				LRRC23_ENST00000443597.2_Intron|LRRC23_ENST00000433346.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000436789.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23									p.?(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AAACCCTCCTCCCCAGGGAAC	0.547																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						118.0	121.0	120.0					12																	7016473		2203	4300	6503	6886734	SO:0001627	intron_variant	10233	.			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.491-6C>A	12.37:g.7016473C>A		Somatic		Capture	Illumina HiSeq	Phase_I	6886734	.	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Intron	SNP	ENST00000007969.8	37	CCDS8569.1																																																																																				0.547	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992	
PEX5	5830	broad.mit.edu	37	12	7355204	7355204	+	Intron	SNP	G	G	A	rs111286659	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7355204G>A	ENST00000455147.2	+	10	1333				PEX5_ENST00000420616.2_Intron|PEX5_ENST00000434354.2_Intron|PEX5_ENST00000412720.2_Intron|PEX5_ENST00000266564.3_Intron|PEX5_ENST00000266563.5_Intron	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CTTTTTTGTCGCAGGGTACAT	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.	G	,,,,	0,4406		0,0,2203	129.0	98.0	109.0		,,,,	0.6	1.0	12	dbSNP_132	109	7,8593	5.7+/-21.5	0,7,4293	no	intron,intron,intron,intron,intron	PEX5	NM_000319.4,NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1	,,,,	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	,,,,	,,,,	7355204	7,12999	2203	4300	6503	7246471	SO:0001627	intron_variant	5830	.			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.754-4G>A	12.37:g.7355204G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7246471	.	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Intron	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																				0.468	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
PEX5	5830	broad.mit.edu	37	12	7362366	7362366	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7362366G>A	ENST00000455147.2	+	16	2228	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	PEX5_ENST00000420616.2_Missense_Mutation_p.E550K|PEX5_ENST00000434354.2_Missense_Mutation_p.E565K|PEX5_ENST00000412720.2_Missense_Mutation_p.E571K|PEX5_ENST00000266564.3_Missense_Mutation_p.E542K|PEX5_ENST00000266563.5_Missense_Mutation_p.E513K	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	550					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.E542K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CCGGGCCCTCGAGCTCCAGCC	0.547																																					p.E513K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537A	12						.						63.0	63.0	63.0					12																	7362366		2203	4300	6503	7253633	SO:0001583	missense	5830	exon14			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1648G>A	12.37:g.7362366G>A	ENSP00000400647:p.Glu550Lys	Somatic		Capture	Illumina HiSeq	Phase_I	7253633	NM_001131024	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531095	0.85706	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.046152	0.85682	D	0.000000	T	0.68081	0.2962	L	0.60455	1.87	0.58432	D	0.999999	D;P;P;P;P	0.71674	0.998;0.943;0.935;0.826;0.679	P;B;B;B;B	0.58620	0.842;0.198;0.438;0.125;0.125	T	0.69150	-0.5221	10	0.51188	T	0.08	.	14.6716	0.68948	0.0:0.145:0.855:0.0	.	571;565;550;542;513	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	K	550;513;565;550;571;542	ENSP00000400647:E550K;ENSP00000266563:E513K;ENSP00000407401:E565K;ENSP00000410159:E550K;ENSP00000391601:E571K;ENSP00000266564:E542K	ENSP00000266563:E513K	E	+	1	0	PEX5	7253633	1.000000	0.71417	0.903000	0.35520	0.706000	0.40770	7.884000	0.87274	2.509000	0.84616	0.561000	0.74099	GAG		0.547	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
ACSM4	341392	broad.mit.edu	37	12	7473344	7473344	+	Silent	SNP	G	G	A	rs368436489		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7473344G>A	ENST00000399422.4	+	6	993	c.945G>A	c.(943-945)acG>acA	p.T315T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	315					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATCCCATCACGACCCTGTGCA	0.463																																					p.T315T												.	.	0			c.G945A	12						.						126.0	114.0	118.0					12																	7473344		1926	4132	6058	7364611	SO:0001819	synonymous_variant	341392	exon6				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.945G>A	12.37:g.7473344G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7364611	NM_001080454	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.463	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
ACSM4	341392	broad.mit.edu	37	12	7475860	7475860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7475860G>T	ENST00000399422.4	+	8	1204	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	386					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GAAAGGCCAAGAAATTAAACC	0.373																																					p.E386X												.	.	0			c.G1156T	12						.						56.0	53.0	54.0					12																	7475860		1839	4108	5947	7367127	SO:0001587	stop_gained	341392	exon8				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1156G>T	12.37:g.7475860G>T	ENSP00000382349:p.Glu386*	Somatic		Capture	Illumina HiSeq	Phase_I	7367127	NM_001080454	A8MTI6	Nonsense_Mutation	SNP	ENST00000399422.4	37	CCDS44825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.632728|4.632728	0.87660|0.87660	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	.|.	.|.	.|.	2.99|2.99	2.09|2.09	0.27110|0.27110	.|.	0.387939|.	0.18121|.	U|.	0.151035|.	.|T	.|0.37517	.|0.1006	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42699	.|-0.9436	.|3	0.02654|.	T|.	1|.	-2.5815|-2.5815	5.1038|5.1038	0.14773|0.14773	0.2756:0.0:0.7243:0.0|0.2756:0.0:0.7243:0.0	.|.	.|.	.|.	.|.	X|I	386|63	.|.	ENSP00000382349:E386X|.	E|R	+|+	1|2	0|0	ACSM4|ACSM4	7367127|7367127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	1.498000|1.498000	0.35660|0.35660	0.826000|0.826000	0.34661|0.34661	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.373	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
CD163L1	283316	broad.mit.edu	37	12	7520765	7520765	+	Silent	SNP	G	G	T	rs1129724		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7520765G>T	ENST00000313599.3	-	17	4158	c.4101C>A	c.(4099-4101)atC>atA	p.I1367I	CD163L1_ENST00000396630.1_Silent_p.I1367I|CD163L1_ENST00000416109.2_Silent_p.I1377I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1367						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.I1367I(1)		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						GGAGCCCAAAGATACTGGATA	0.373																																					p.I1367I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4101A	12						.						98.0	97.0	98.0					12																	7520765		2203	4300	6503	7412032	SO:0001819	synonymous_variant	283316	exon17			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.4101C>A	12.37:g.7520765G>T		Somatic		Capture	Illumina HiSeq	Phase_I	7412032	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	1.863	-0.462223	0.04508	.	.	ENSG00000177675	ENST00000539726	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	6.4591	0.21946	0.0:0.0:1.0:0.0	.	.	.	.	I	23	.	.	L	-	1	0	CD163L1	7412032	0.176000	0.23096	0.001000	0.08648	0.003000	0.03518	2.071000	0.41500	1.133000	0.42147	0.563000	0.77884	CTT		0.373	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
CD163L1	283316	broad.mit.edu	37	12	7527952	7527952	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7527952G>A	ENST00000313599.3	-	11	2983	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	CD163L1_ENST00000396630.1_Silent_p.L976L|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.L986L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	976	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L976L(1)		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						CAGTTATCCAGAAGTGACTCA	0.443																																					p.L976L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2926T	12						.						99.0	86.0	90.0					12																	7527952		2203	4300	6503	7419219	SO:0001819	synonymous_variant	283316	exon11			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.2926C>T	12.37:g.7527952G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7419219	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
APOBEC1	339	broad.mit.edu	37	12	7805040	7805040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7805040C>T	ENST00000229304.4	-	3	456	c.436G>A	c.(436-438)Gca>Aca	p.A146T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	146					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A146T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTACCTGATGCTCTCATAATC	0.418																																					p.A146T	Pancreas(135;929 1826 4531 10527 41012)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436A	12						.						67.0	58.0	61.0					12																	7805040		2203	4300	6503	7696307	SO:0001583	missense	339	exon3			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.436G>A	12.37:g.7805040C>T	ENSP00000229304:p.Ala146Thr	Somatic		Capture	Illumina HiSeq	Phase_I	7696307	NM_001644	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102447	0.20632	.	.	ENSG00000111701	ENST00000229304	T	0.66995	-0.24	4.61	-0.856	0.10697	APOBEC-like, C-terminal (1);	2.020920	0.01967	N	0.043786	T	0.48768	0.1518	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25606	-1.0127	10	0.38643	T	0.18	0.233	1.4074	0.02283	0.159:0.3345:0.311:0.1955	.	146	P41238	ABEC1_HUMAN	T	146	ENSP00000229304:A146T	ENSP00000229304:A146T	A	-	1	0	APOBEC1	7696307	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.151000	0.10175	0.142000	0.18901	0.462000	0.41574	GCA		0.418	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
CLEC4C	170482	broad.mit.edu	37	12	7894117	7894117	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7894117A>C	ENST00000542353.1	-	4	625	c.135T>G	c.(133-135)aaT>aaG	p.N45K	CLEC4C_ENST00000360345.3_Missense_Mutation_p.N45K|CLEC4C_ENST00000354629.5_Missense_Mutation_p.N14K|CLEC4C_ENST00000540085.1_Missense_Mutation_p.N14K	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	45					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N45K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TATACATAAAATTGTGAGGCA	0.418																																					p.N14K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T42G	12						.						138.0	120.0	126.0					12																	7894117		2203	4300	6503	7785384	SO:0001583	missense	170482	exon3			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.135T>G	12.37:g.7894117A>C	ENSP00000440428:p.Asn45Lys	Somatic		Capture	Illumina HiSeq	Phase_I	7785384	NM_203503	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	A	4.189	0.033653	0.08101	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02258	4.51;4.37;4.37;4.51	1.61	1.61	0.23674	.	.	.	.	.	T	0.02342	0.0072	L	0.27053	0.805	0.09310	N	1	P;D	0.53885	0.478;0.963	B;P	0.50082	0.048;0.63	T	0.41395	-0.9511	9	0.10636	T	0.68	.	5.3161	0.15856	1.0:0.0:0.0:0.0	.	14;45	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	K	45;14;14;45	ENSP00000440428:N45K;ENSP00000346648:N14K;ENSP00000445338:N14K;ENSP00000353500:N45K	ENSP00000346648:N14K	N	-	3	2	CLEC4C	7785384	0.002000	0.14202	0.016000	0.15963	0.017000	0.09413	0.406000	0.21032	0.984000	0.38629	0.421000	0.28195	AAT		0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
SLC2A14	144195	broad.mit.edu	37	12	7973851	7973851	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:7973851G>A	ENST00000543909.1	-	13	1763	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.A335V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AACCACACCCGCGCTGATGGT	0.413																																					p.A335V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1004T	12						.						149.0	138.0	142.0					12																	7973851		2203	4300	6503	7865118	SO:0001583	missense	144195	exon9			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1004C>T	12.37:g.7973851G>A	ENSP00000440480:p.Ala335Val	Somatic		Capture	Illumina HiSeq	Phase_I	7865118	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862866	0.00552	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	2.98	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052804	0.85682	D	0.000000	T	0.46054	0.1373	L	0.31065	0.9	0.46356	D	0.999007	B;B;B;B	0.30211	0.273;0.048;0.006;0.025	B;B;B;B	0.31390	0.129;0.082;0.011;0.019	T	0.28996	-1.0026	10	0.05959	T	0.93	.	8.158	0.31180	0.1315:0.0:0.8685:0.0	.	350;226;312;335	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	312;335;312;335;226;226;350	ENSP00000340450:A312V;ENSP00000440480:A335V;ENSP00000407287:A312V;ENSP00000379834:A335V;ENSP00000440492:A226V;ENSP00000443903:A226V;ENSP00000445929:A350V	ENSP00000340450:A312V	A	-	2	0	SLC2A14	7865118	1.000000	0.71417	0.030000	0.17652	0.063000	0.16089	8.788000	0.91834	0.346000	0.23899	-0.680000	0.03767	GCG		0.413	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
FOXJ2	55810	broad.mit.edu	37	12	8192503	8192503	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8192503G>T	ENST00000162391.3	+	2	1220	c.75G>T	c.(73-75)gaG>gaT	p.E25D	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E25D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	25					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.E25D(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTACCATTGAGAAGCTTGGAA	0.587																																					p.E25D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	12						.						77.0	78.0	78.0					12																	8192503		2203	4300	6503	8083770	SO:0001583	missense	55810	exon2			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.75G>T	12.37:g.8192503G>T	ENSP00000162391:p.Glu25Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8083770	NM_018416	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	g	19.45	3.830330	0.71258	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95035	-3.4;-3.59	5.05	2.22	0.28083	.	0.088837	0.47852	D	0.000217	D	0.83700	0.5311	N	0.08118	0	0.29369	N	0.864119	B;P	0.36837	0.231;0.571	B;B	0.33392	0.054;0.163	T	0.78347	-0.2239	10	0.25751	T	0.34	.	8.1721	0.31260	0.2659:0.0:0.7341:0.0	.	25;25	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	D	25	ENSP00000162391:E25D;ENSP00000403411:E25D	ENSP00000162391:E25D	E	+	3	2	FOXJ2	8083770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.579000	0.23788	0.548000	0.28955	0.555000	0.69702	GAG		0.587	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
FAM90A1	55138	broad.mit.edu	37	12	8375165	8375165	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8375165C>T	ENST00000538603.1	-	7	1206	c.648G>A	c.(646-648)agG>agA	p.R216R	FAM90A1_ENST00000307435.6_Silent_p.R216R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	216							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGCCCTGGTGCCTGACTGCAG	0.627																																					p.R216R												.	.	0			c.G648A	12						.						37.0	58.0	51.0					12																	8375165		2085	4195	6280	8266432	SO:0001819	synonymous_variant	55138	exon7			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.648G>A	12.37:g.8375165C>T		None		Capture	Illumina HiSeq	Phase_I	8266432	NM_018088	D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	CCDS31738.1																																																																																				0.627	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	
AICDA	57379	broad.mit.edu	37	12	8757408	8757408	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8757408G>T	ENST00000229335.6	-	4	641	c.538C>A	c.(538-540)Ctt>Att	p.L180I	AICDA_ENST00000537228.1_Missense_Mutation_p.L170I	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	180					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L180I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTTACCAAAAGGATGCGCCGA	0.388																																					p.L180I	GBM(62;896 1067 5527 26594 30137)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538A	12						.						114.0	112.0	112.0					12																	8757408		1810	4078	5888	8648675	SO:0001583	missense	57379	exon4			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.538C>A	12.37:g.8757408G>T	ENSP00000229335:p.Leu180Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8648675	NM_020661	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977398	0.74360	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.70749	-0.42;-0.51	5.44	4.55	0.56014	.	0.166718	0.47093	D	0.000257	D	0.85575	0.5728	M	0.90705	3.14	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.997	D	0.87524	0.2448	10	0.72032	D	0.01	-16.2878	11.4084	0.49911	0.0849:0.0:0.9151:0.0	.	180;170	Q9GZX7;Q6QJ81	AICDA_HUMAN;.	I	180;170	ENSP00000229335:L180I;ENSP00000445691:L170I	ENSP00000229335:L180I	L	-	1	0	AICDA	8648675	1.000000	0.71417	0.961000	0.40146	0.867000	0.49689	7.633000	0.83260	1.292000	0.44672	-0.150000	0.13652	CTT		0.388	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
MFAP5	8076	broad.mit.edu	37	12	8800751	8800751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8800751C>T	ENST00000359478.2	-	10	645	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.R153H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTAATTGGAGCGACGGAGTCT	0.463																																					p.R153H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	12						.						80.0	78.0	79.0					12																	8800751		2203	4300	6503	8692018	SO:0001583	missense	8076	exon10			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.458G>A	12.37:g.8800751C>T	ENSP00000352455:p.Arg153His	Somatic		Capture	Illumina HiSeq	Phase_I	8692018	NM_003480	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.592419|4.592419	0.86953|0.86953	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.157344	.|0.45126	.|D	.|0.000397	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.32530|0.32530	0.975|0.975	0.34045|0.34045	D|D	0.655471|0.655471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.71553|0.71553	-0.4558|-0.4558	5|9	.|0.87932	.|D	.|0	-24.1146|-24.1146	13.5224|13.5224	0.61576|0.61576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;153;143	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	T|H	143|59;153;128;143;131;89;143	.|.	.|ENSP00000352455:R153H	A|R	-|-	1|2	0|0	MFAP5|MFAP5	8692018|8692018	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.976000|0.976000	0.68499|0.68499	3.696000|3.696000	0.54757|0.54757	2.646000|2.646000	0.89796|0.89796	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.463	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	
MFAP5	8076	broad.mit.edu	37	12	8803141	8803141	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8803141G>T	ENST00000359478.2	-	8	479	c.292C>A	c.(292-294)Cat>Aat	p.H98N	MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000540087.1_Missense_Mutation_p.H88N|MFAP5_ENST00000433590.2_Missense_Mutation_p.H73N|MFAP5_ENST00000396549.2_Missense_Mutation_p.H88N|MFAP5_ENST00000543369.1_Missense_Mutation_p.H76N	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	98					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.H98N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACCGGCCGATGCACAGAGTAG	0.433																																					p.H98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C292A	12						.						123.0	106.0	112.0					12																	8803141		2203	4300	6503	8694408	SO:0001583	missense	8076	exon8			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.292C>A	12.37:g.8803141G>T	ENSP00000352455:p.His98Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8694408	NM_003480	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.511373|3.511373	0.64522|0.64522	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.66934	.|0.2840	M|M	0.68952|0.68952	2.095|2.095	0.36866|0.36866	D|D	0.88866|0.88866	.|P;P;P	.|0.36354	.|0.549;0.549;0.549	.|B;B;B	.|0.43536	.|0.423;0.423;0.423	.|T	.|0.75569	.|-0.3272	.|9	.|0.87932	.|D	.|0	-26.1698|-26.1698	13.8337|13.8337	0.63398|0.63398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|73;98;88	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	X|N	87|4;98;73;88;76;88	.|.	.|ENSP00000352455:H98N	C|H	-|-	3|1	2|0	MFAP5|MFAP5	8694408|8694408	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.681000|0.681000	0.39784|0.39784	3.229000|3.229000	0.51278|0.51278	2.644000|2.644000	0.89710|0.89710	0.557000|0.557000	0.71058|0.71058	TGC|CAT		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	
MFAP5	8076	broad.mit.edu	37	12	8813459	8813459	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8813459C>A	ENST00000359478.2	-	3	281	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	MFAP5_ENST00000535336.1_Splice_Site_p.D32Y|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000540087.1_Splice_Site_p.D32Y|MFAP5_ENST00000433590.2_Splice_Site_p.D32Y|MFAP5_ENST00000396549.2_Splice_Site_p.D32Y|MFAP5_ENST00000543369.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	32					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.D32Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTTCACCTACCTCCTCGTTGA	0.443																																					p.D32Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	12						.						88.0	87.0	87.0					12																	8813459		2203	4300	6503	8704726	SO:0001630	splice_region_variant	8076	exon3			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.94+1G>T	12.37:g.8813459C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8704726	NM_003480	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.191146|3.191146	0.58017|0.58017	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000535336;ENST00000540087;ENST00000544889|ENST00000535411	.|.	.|.	.|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.217419|.	0.32430|.	N|.	0.006105|.	T|T	0.70020|0.70020	0.3176|0.3176	M|M	0.63428|0.63428	1.95|1.95	0.43156|0.43156	D|D	0.994932|0.994932	D;D;D|.	0.65815|.	0.995;0.995;0.995|.	D;D;D|.	0.66716|.	0.946;0.946;0.946|.	T|T	0.68949|0.68949	-0.5274|-0.5274	8|5	.|.	.|.	.|.	-6.5254|-6.5254	13.5715|13.5715	0.61849|0.61849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	32;32;32|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	Y|D	32|21	.|.	.|.	D|E	-|-	1|3	0|2	MFAP5|MFAP5	8704726|8704726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.491000|0.491000	0.33493|0.33493	3.287000|3.287000	0.51732|0.51732	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GAC|GAG		0.443	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	Missense_Mutation
A2ML1	144568	broad.mit.edu	37	12	8975955	8975955	+	Silent	SNP	C	C	A	rs79315547		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8975955C>A	ENST00000299698.7	+	2	420	c.240C>A	c.(238-240)tcC>tcA	p.S80S	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S80S(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATTGTATCTCCTTTCTTGTAA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0				p.S80S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C240A	12						.						81.0	80.0	80.0					12																	8975955		1943	4150	6093	8867222	SO:0001819	synonymous_variant	144568	exon2			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.240C>A	12.37:g.8975955C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8867222	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.418	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	8988858	8988858	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:8988858G>A	ENST00000299698.7	+	7	831	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.P217P(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGTGCTGCCGAAGTTTAAGG	0.438																																					p.P217P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	12						.						119.0	112.0	114.0					12																	8988858		1925	4132	6057	8880125	SO:0001819	synonymous_variant	144568	exon7			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.651G>A	12.37:g.8988858G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8880125	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.438	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9004868	9004868	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9004868C>A	ENST00000299698.7	+	20	2706	c.2526C>A	c.(2524-2526)acC>acA	p.T842T	A2ML1_ENST00000539547.1_Silent_p.T351T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.T842T(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATTCTCAGACCTCCAGTTGTC	0.488																																					p.T842T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2526A	12						.						208.0	196.0	200.0					12																	9004868		1970	4176	6146	8896135	SO:0001819	synonymous_variant	144568	exon20			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2526C>A	12.37:g.9004868C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8896135	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9020926	9020926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9020926G>A	ENST00000299698.7	+	31	4214	c.4034G>A	c.(4033-4035)cGa>cAa	p.R1345Q	A2ML1_ENST00000539547.1_Missense_Mutation_p.R854Q	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.R1345Q(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTCACCTCGATCCTTGACT	0.488																																					p.R1345Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4034A	12						.						156.0	154.0	155.0					12																	9020926		1978	4161	6139	8912193	SO:0001583	missense	144568	exon31			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4034G>A	12.37:g.9020926G>A	ENSP00000299698:p.Arg1345Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8912193	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250736	0.10130	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.42513	0.97;0.97;0.97	3.69	-0.271	0.12922	Alpha-macroglobulin, receptor-binding (2);	4.993110	0.00691	N	0.000724	T	0.31513	0.0799	L	0.41573	1.285	0.09310	N	1	B	0.26318	0.146	B	0.17433	0.018	T	0.05419	-1.0886	10	0.23302	T	0.38	.	4.3132	0.10981	0.3687:0.0:0.4769:0.1544	.	1345	A8K2U0	A2ML1_HUMAN	Q	1345;1345;895;854	ENSP00000299698:R1345Q;ENSP00000443174:R895Q;ENSP00000438292:R854Q	ENSP00000299698:R1345Q	R	+	2	0	A2ML1	8912193	0.000000	0.05858	0.235000	0.24058	0.127000	0.20565	-0.162000	0.10012	-0.060000	0.13132	0.561000	0.74099	CGA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
PHC1	1911	broad.mit.edu	37	12	9072467	9072467	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9072467G>A	ENST00000543824.1	+	4	557				PHC1_ENST00000536844.1_Intron|PHC1_ENST00000433847.2_Intron|PHC1_ENST00000433083.2_Intron|PHC1_ENST00000544916.1_Intron			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)						cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAGCAGGTGAGAGGTCAGCAG	0.582																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						18.0	18.0	18.0					12																	9072467		2202	4297	6499	8963734	SO:0001627	intron_variant	1911	.			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.225+5G>A	12.37:g.9072467G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8963734	.	D3DUV4|Q8WVM3|Q9BU63	Intron	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475438	0.63737	.	.	ENSG00000111752	ENST00000541181	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73332	-0.4016	4	.	.	.	.	19.2007	0.93711	0.0:0.0:1.0:0.0	.	.	.	.	K	77	.	.	R	+	2	0	PHC1	8963734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.626000	0.67777	2.625000	0.88918	0.655000	0.94253	AGA		0.582	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
A2M	2	broad.mit.edu	37	12	9258856	9258856	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9258856T>C	ENST00000318602.7	-	10	1387	c.1080A>G	c.(1078-1080)cgA>cgG	p.R360R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	360					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.R360R(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GAATTCCCTGTCGAAAGTGTG	0.408																																					p.R360R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1080G	12						.						140.0	136.0	137.0					12																	9258856		1873	4102	5975	9150123	SO:0001819	synonymous_variant	2	exon10			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1080A>G	12.37:g.9258856T>C		Somatic		Capture	Illumina HiSeq	Phase_I	9150123	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.408	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
PZP	5858	broad.mit.edu	37	12	9309952	9309952	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9309952C>A	ENST00000261336.2	-	28	3398		c.e28-1		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAATAGGGTTCTGTAAAGGCA	0.478																																					.	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Unknown(2)	large_intestine(2)	.	12						.						70.0	69.0	69.0					12																	9309952		2203	4300	6503	9201219	SO:0001630	splice_region_variant	5858	.			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3370-1G>T	12.37:g.9309952C>A		Somatic		Capture	Illumina HiSeq	Phase_I	9201219	.	A6ND27|Q15273|Q2NKL2|Q7M4N7	Splice_Site	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	7.864	0.726604	0.15439	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4763	0.75481	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PZP	9201219	0.998000	0.40836	0.089000	0.20774	0.003000	0.03518	3.747000	0.55134	2.143000	0.66587	0.557000	0.71058	.		0.478	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Intron
PZP	5858	broad.mit.edu	37	12	9317884	9317884	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9317884C>T	ENST00000261336.2	-	19	2366	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PZP_ENST00000381997.2_Missense_Mutation_p.E649K|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	780					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E780K(1)|p.E649K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCAGCATCTTCGGACAGGCAG	0.562																																					p.E780K	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2338A	12						.						97.0	83.0	87.0					12																	9317884		2203	4298	6501	9209151	SO:0001583	missense	5858	exon19			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2338G>A	12.37:g.9317884C>T	ENSP00000261336:p.Glu780Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9209151	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.476225	0.01035	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.25085	1.82;1.82	3.7	-3.82	0.04281	Alpha-2-macroglobulin (1);	3.571680	0.01095	U	0.005275	T	0.11623	0.0283	N	0.16266	0.395	0.09310	N	1	B;B;B	0.33549	0.051;0.417;0.051	B;B;B	0.30716	0.01;0.119;0.01	T	0.07271	-1.0781	10	0.11485	T	0.65	.	1.9803	0.03425	0.1315:0.4636:0.1294:0.2756	.	780;649;780	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	K	780;649	ENSP00000261336:E780K;ENSP00000371427:E649K	ENSP00000261336:E780K	E	-	1	0	PZP	9209151	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.773000	0.04689	-0.988000	0.03489	0.467000	0.42956	GAA		0.562	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9349279	9349279	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9349279A>G	ENST00000261336.2	-	9	898	c.870T>C	c.(868-870)ctT>ctC	p.L290L	PZP_ENST00000381997.2_Silent_p.L159L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	290					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L290L(1)|p.L159L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CATTGCTGTTAAGCTGAGAAA	0.368																																					p.L290L	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T870C	12						.						108.0	105.0	106.0					12																	9349279		2203	4300	6503	9240546	SO:0001819	synonymous_variant	5858	exon9			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.870T>C	12.37:g.9349279A>G		Somatic		Capture	Illumina HiSeq	Phase_I	9240546	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.368	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9353540	9353540	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9353540T>C	ENST00000261336.2	-	6	646	c.618A>G	c.(616-618)gtA>gtG	p.V206V	PZP_ENST00000381997.2_Silent_p.V75V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	206					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V206V(1)|p.V75V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTCTGTCTGTACCACCACCC	0.478																																					p.V206V	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A618G	12						.						148.0	143.0	144.0					12																	9353540		2203	4300	6503	9244807	SO:0001819	synonymous_variant	5858	exon6			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.618A>G	12.37:g.9353540T>C		Somatic		Capture	Illumina HiSeq	Phase_I	9244807	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.478	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
KLRF1	51348	broad.mit.edu	37	12	9997020	9997020	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:9997020C>A	ENST00000279544.3	+	6	658	c.594C>A	c.(592-594)ttC>ttA	p.F198L	KLRF1_ENST00000324214.4_Missense_Mutation_p.F148L|KLRF1_ENST00000354855.3_Missense_Mutation_p.S63Y|KLRF1_ENST00000537723.1_Missense_Mutation_p.S113Y	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.F198L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TCCCTAGATTCTTCATAAAGG	0.348																																					p.F198L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C594A	12						.						61.0	59.0	59.0					12																	9997020		1811	4068	5879	9888287	SO:0001583	missense	51348	exon6			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.594C>A	12.37:g.9997020C>A	ENSP00000279544:p.Phe198Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9888287	NM_016523	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	CCDS41750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.910|6.910	0.537448|0.537448	0.13188|0.13188	.|.	.|.	ENSG00000150045|ENSG00000150045	ENST00000324214;ENST00000279544|ENST00000354855;ENST00000537723	T;T|T	0.18174|0.50813	2.23;2.23|0.73	2.51|2.51	1.61|1.61	0.23674|0.23674	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.46092|0.46092	0.1375|0.1375	L|L	0.38649|0.38649	1.16|1.16	0.09310|0.09310	N|N	1|1	P;P|D	0.52577|0.59357	0.897;0.954|0.985	P;D|P	0.63597|0.55824	0.755;0.916|0.785	T|T	0.22591|0.22591	-1.0212|-1.0212	8|8	.|.	.|.	.|.	.|.	5.2899|5.2899	0.15721|0.15721	0.0:0.8361:0.0:0.1639|0.0:0.8361:0.0:0.1639	.|.	198;148|113	Q9NZS2;Q9NZS2-2|Q4KN30	KLRF1_HUMAN;.|.	L|Y	148;198|63;113	ENSP00000322487:F148L;ENSP00000279544:F198L|ENSP00000443054:S113Y	.|.	F|S	+|+	3|2	2|0	KLRF1|KLRF1	9888287|9888287	0.009000|0.009000	0.17119|0.17119	0.080000|0.080000	0.20451|0.20451	0.089000|0.089000	0.18198|0.18198	-0.632000|-0.632000	0.05489|0.05489	0.636000|0.636000	0.30508|0.30508	0.557000|0.557000	0.71058|0.71058	TTC|TCT		0.348	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523	
CLEC1A	51267	broad.mit.edu	37	12	10228098	10228098	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10228098C>A	ENST00000315330.4	-	4	606				CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCCTCAGAATCTTACCAGGTC	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						98.0	98.0	98.0					12																	10228098		2203	4300	6503	10119365	SO:0001627	intron_variant	51267	.			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.543+4G>T	12.37:g.10228098C>A		Somatic		Capture	Illumina HiSeq	Phase_I	10119365	.	Q8IUW7|Q9NZH3	Intron	SNP	ENST00000315330.4	37	CCDS8612.1																																																																																				0.378	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
KLRC1	3821	broad.mit.edu	37	12	10599141	10599141	+	3'UTR	SNP	G	G	A	rs372615172		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:10599141G>A	ENST00000359151.3	-	0	892				KLRC1_ENST00000408006.3_3'UTR|KLRC1_ENST00000347831.5_3'UTR|KLRC1_ENST00000536188.1_Intron|KLRC1_ENST00000544822.1_3'UTR	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1						cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AAATGCAAACGCTTTACCTCT	0.294																																					.												.	.	0			.	12						.	G	,,,	2,4404	4.2+/-10.8	1,0,2202	144.0	133.0	137.0		,,,	-0.7	0.0	12		137	2,8596	2.2+/-6.3	0,2,4297	no	utr-3,utr-3,utr-3,utr-3	KLRC1	NM_002259.4,NM_007328.3,NM_213657.2,NM_213658.2	,,,	1,2,6499	AA,AG,GG		0.0233,0.0454,0.0308	,,,	,,,	10599141	4,13000	2203	4299	6502	10490408	SO:0001624	3_prime_UTR_variant	3821	.			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.*9C>T	12.37:g.10599141G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10490408	.		3'UTR	SNP	ENST00000359151.3	37	CCDS8625.1																																																																																				0.294	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259	
GRIN2B	2904	broad.mit.edu	37	12	13722814	13722814	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13722814G>T	ENST00000609686.1	-	11	2518	c.2309C>A	c.(2308-2310)tCt>tAt	p.S770Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	770					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S770Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCCACCCAGAATCTTTTTG	0.512																																					p.S770Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2309A	12						.						74.0	62.0	66.0					12																	13722814		2203	4300	6503	13614081	SO:0001583	missense	2904	exon11				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2309C>A	12.37:g.13722814G>T	ENSP00000477455:p.Ser770Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	13614081	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696589	0.88830	.	.	ENSG00000150086	ENST00000279593	T	0.58210	0.35	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.066155	0.64402	D	0.000005	T	0.77785	0.4182	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81475	-0.0916	10	0.87932	D	0	.	19.5042	0.95108	0.0:0.0:1.0:0.0	.	770	Q13224	NMDE2_HUMAN	Y	770	ENSP00000279593:S770Y	ENSP00000279593:S770Y	S	-	2	0	GRIN2B	13614081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.944000	0.87722	2.590000	0.87494	0.655000	0.94253	TCT		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GRIN2B	2904	broad.mit.edu	37	12	13724805	13724805	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13724805T>C	ENST00000609686.1	-	10	2313	c.2104A>G	c.(2104-2106)Atg>Gtg	p.M702V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	702					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.M702V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGGCATGCATTTCTGCATAG	0.488																																					p.M702V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2104G	12						.						262.0	215.0	231.0					12																	13724805		2203	4300	6503	13616072	SO:0001583	missense	2904	exon10				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2104A>G	12.37:g.13724805T>C	ENSP00000477455:p.Met702Val	Somatic		Capture	Illumina HiSeq	Phase_I	13616072	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585019	0.86748	.	.	ENSG00000150086	ENST00000279593	T	0.52057	0.68	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.76432	-0.2961	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	702	Q13224	NMDE2_HUMAN	V	702	ENSP00000279593:M702V	ENSP00000279593:M702V	M	-	1	0	GRIN2B	13616072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.992000	0.88273	2.308000	0.77769	0.533000	0.62120	ATG		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GRIN2B	2904	broad.mit.edu	37	12	13828667	13828667	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13828667G>T	ENST00000609686.1	-	4	1335					NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AATTGTCAAAGACATGTCTTA	0.428																																					.												.	.	0			.	12						.						105.0	99.0	101.0					12																	13828667		2203	4300	6503	13719934	SO:0001627	intron_variant	2904	.				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1125+11C>A	12.37:g.13828667G>T		Somatic		Capture	Illumina HiSeq	Phase_I	13719934	.	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Intron	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.428	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GRIN2B	2904	broad.mit.edu	37	12	13906541	13906541	+	Silent	SNP	G	G	T	rs149526977		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:13906541G>T	ENST00000609686.1	-	3	929	c.720C>A	c.(718-720)atC>atA	p.I240I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	240					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.I240I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACTTCAAAGATGTAGGTGG	0.512																																					p.I240I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C720A	12						.						120.0	119.0	119.0					12																	13906541		2203	4300	6503	13797808	SO:0001819	synonymous_variant	2904	exon3				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.720C>A	12.37:g.13906541G>T		Somatic		Capture	Illumina HiSeq	Phase_I	13797808	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
ATF7IP	55729	broad.mit.edu	37	12	14578080	14578080	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:14578080A>G	ENST00000540793.1	+	1	1386	c.1231A>G	c.(1231-1233)Aat>Gat	p.N411D	ATF7IP_ENST00000261168.4_Missense_Mutation_p.N411D|ATF7IP_ENST00000543189.1_Missense_Mutation_p.N411D|ATF7IP_ENST00000544627.1_Missense_Mutation_p.N419D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.N411D|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	411	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.N411D(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAACGATTAATGAAAATGT	0.343																																					p.N411D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1231G	12						.						54.0	57.0	56.0					12																	14578080		2203	4300	6503	14469347	SO:0001583	missense	55729	exon2			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1231A>G	12.37:g.14578080A>G	ENSP00000444589:p.Asn411Asp	Somatic		Capture	Illumina HiSeq	Phase_I	14469347	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	1.340	-0.594432	0.03771	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.21361	2.34;2.33;2.34;2.34;2.01;2.34	5.36	-0.415	0.12355	.	0.964378	0.08622	N	0.918348	T	0.07999	0.0200	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.39375	-0.9617	10	0.22109	T	0.4	0.5034	5.6125	0.17414	0.3638:0.4237:0.2124:0.0	.	419;411;419;411;411;411;22	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	D	411;411;411;419;411;411	ENSP00000261168:N411D;ENSP00000443179:N411D;ENSP00000445955:N411D;ENSP00000440440:N419D;ENSP00000379575:N411D;ENSP00000444589:N411D	ENSP00000261168:N411D	N	+	1	0	ATF7IP	14469347	0.003000	0.15002	0.004000	0.12327	0.124000	0.20399	0.429000	0.21412	0.056000	0.16144	0.482000	0.46254	AAT		0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
ERP27	121506	broad.mit.edu	37	12	15067690	15067690	+	Missense_Mutation	SNP	C	C	A	rs138298248	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:15067690C>A	ENST00000266397.2	-	7	1374	c.801G>T	c.(799-801)aaG>aaT	p.K267N	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.K166N	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	267						endoplasmic reticulum (GO:0005783)		p.K267N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CCTTTGGAGTCTTTCCTTCTG	0.363																																					p.K267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G801T	12						.						197.0	169.0	178.0					12																	15067690		2203	4300	6503	14958957	SO:0001583	missense	121506	exon7			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.801G>T	12.37:g.15067690C>A	ENSP00000266397:p.Lys267Asn	Somatic		Capture	Illumina HiSeq	Phase_I	14958957	NM_152321		Missense_Mutation	SNP	ENST00000266397.2	37	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	C	6.465	0.453932	0.12283	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.47177	1.83;0.85	4.54	0.846	0.18955	.	0.450849	0.25006	N	0.033867	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	1	D	0.54207	0.965	P	0.45913	0.497	T	0.22312	-1.0220	10	0.22109	T	0.4	-2.5365	4.2518	0.10698	0.0:0.4816:0.2495:0.2689	.	267	Q96DN0	ERP27_HUMAN	N	267;166	ENSP00000266397:K267N;ENSP00000440573:K166N	ENSP00000266397:K267N	K	-	3	2	ERP27	14958957	0.002000	0.14202	0.003000	0.11579	0.185000	0.23345	-0.742000	0.04850	0.133000	0.18654	0.655000	0.94253	AAG		0.363	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321	
PTPRO	5800	broad.mit.edu	37	12	15650241	15650241	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:15650241C>A	ENST00000281171.4	+	3	742	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	PTPRO_ENST00000348962.2_Missense_Mutation_p.L138M|PTPRO_ENST00000543886.1_Missense_Mutation_p.L138M	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	138					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.L138M(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACAGGAGTCCTGTTTGAAAT	0.363																																					p.L138M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412A	12						.						113.0	125.0	121.0					12																	15650241		2203	4300	6503	15541508	SO:0001583	missense	5800	exon3			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.412C>A	12.37:g.15650241C>A	ENSP00000281171:p.Leu138Met	Somatic		Capture	Illumina HiSeq	Phase_I	15541508	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831172	0.50845	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04862	3.55;3.54	4.81	1.89	0.25635	.	0.000000	0.38959	N	0.001507	T	0.08714	0.0216	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.993;0.988;0.999	P;P;D	0.63597	0.878;0.758;0.916	T	0.33854	-0.9852	10	0.45353	T	0.12	.	5.4003	0.16293	0.0:0.4597:0.1391:0.4012	.	138;138;138	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	M	138	ENSP00000281171:L138M;ENSP00000343434:L138M	ENSP00000281171:L138M	L	+	1	2	PTPRO	15541508	0.559000	0.26562	0.630000	0.29268	0.997000	0.91878	0.497000	0.22514	0.206000	0.20587	0.655000	0.94253	CTG		0.363	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
PTPRO	5800	broad.mit.edu	37	12	15718534	15718534	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:15718534A>C	ENST00000281171.4	+	18	3049	c.2719A>C	c.(2719-2721)Aat>Cat	p.N907H	PTPRO_ENST00000445537.2_Missense_Mutation_p.N96H|PTPRO_ENST00000442921.2_Missense_Mutation_p.N96H|PTPRO_ENST00000542557.1_Missense_Mutation_p.N68H|PTPRO_ENST00000348962.2_Missense_Mutation_p.N879H|PTPRO_ENST00000544244.1_Missense_Mutation_p.N68H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	907					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.N907H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGAGTAAAAATGGTTTAAA	0.254																																					p.N96H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286C	12						.						51.0	59.0	56.0					12																	15718534		2200	4287	6487	15609801	SO:0001583	missense	5800	exon6			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2719A>C	12.37:g.15718534A>C	ENSP00000281171:p.Asn907His	Somatic		Capture	Illumina HiSeq	Phase_I	15609801	NM_030669	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707018	0.68615	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.04156	3.72;3.84;3.69;3.75;3.69;3.75	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000054	T	0.09113	0.0225	N	0.14661	0.345	0.44789	D	0.997798	D;D;D	0.71674	0.971;0.998;0.996	P;D;P	0.63381	0.543;0.914;0.823	T	0.41324	-0.9515	10	0.46703	T	0.11	.	15.0743	0.72066	1.0:0.0:0.0:0.0	.	68;879;907	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	H	907;879;96;68;96;68	ENSP00000281171:N907H;ENSP00000343434:N879H;ENSP00000404188:N96H;ENSP00000437571:N68H;ENSP00000393449:N96H;ENSP00000439234:N68H	ENSP00000281171:N907H	N	+	1	0	PTPRO	15609801	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.694000	0.84235	2.285000	0.76669	0.533000	0.62120	AAT		0.254	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
PIK3C2G	5288	broad.mit.edu	37	12	18576958	18576958	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:18576958C>T	ENST00000266497.5	+	16	2404	c.2366C>T	c.(2365-2367)gCc>gTc	p.A789V	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.A830V|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.A789V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	789	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.A789V(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCCAGGTTGCCCATCGTCTT	0.433																																					p.A789V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2366T	12						.						69.0	65.0	66.0					12																	18576958		1881	4119	6000	18468225	SO:0001583	missense	5288	exon17			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2366C>T	12.37:g.18576958C>T	ENSP00000266497:p.Ala789Val	Somatic		Capture	Illumina HiSeq	Phase_I	18468225	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312364	0.81358	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.73897	-0.79;-0.79;-0.79	4.52	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.86628	0.5978	M	0.84082	2.675	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88052	0.2788	10	0.72032	D	0.01	-13.4992	15.5695	0.76323	0.0:1.0:0.0:0.0	.	829;830;789	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	789;789;830	ENSP00000404845:A789V;ENSP00000266497:A789V;ENSP00000445381:A830V	ENSP00000266497:A789V	A	+	2	0	PIK3C2G	18468225	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.416000	0.44644	2.805000	0.96524	0.460000	0.39030	GCC		0.433	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PIK3C2G	5288	broad.mit.edu	37	12	18691191	18691191	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:18691191G>A	ENST00000266497.5	+	23	3340	c.3302G>A	c.(3301-3303)cGt>cAt	p.R1101H	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1142H|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1101H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1101	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R1101H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTGCTGTCGTGCTTATAAT	0.373																																					p.R1101H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3302A	12						.						79.0	76.0	77.0					12																	18691191		1807	4067	5874	18582458	SO:0001583	missense	5288	exon24			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3302G>A	12.37:g.18691191G>A	ENSP00000266497:p.Arg1101His	Somatic		Capture	Illumina HiSeq	Phase_I	18582458	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806365	0.31961	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.75821	-0.97;-0.97;-0.97	4.21	1.45	0.22620	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.650248	0.14461	N	0.318218	T	0.65048	0.2654	L	0.48935	1.535	0.39991	D	0.975043	B;B;B	0.21071	0.051;0.042;0.015	B;B;B	0.19391	0.025;0.014;0.015	T	0.61178	-0.7115	10	0.72032	D	0.01	-8.2819	7.7154	0.28702	0.339:0.0:0.661:0.0	.	1141;1142;1101	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1101;1101;1142	ENSP00000404845:R1101H;ENSP00000266497:R1101H;ENSP00000445381:R1142H	ENSP00000266497:R1101H	R	+	2	0	PIK3C2G	18582458	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.304000	0.43655	0.346000	0.23899	-0.899000	0.02877	CGT		0.373	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PLEKHA5	54477	broad.mit.edu	37	12	19475494	19475494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:19475494G>T	ENST00000299275.6	+	15	2038	c.2032G>T	c.(2032-2034)Gaa>Taa	p.E678*	PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E736*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.E678*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E678*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E597*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E609*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E436*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E736*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E781*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	678					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E678*(1)|p.E781*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAGAGATAGAAATGCATGC	0.383																																					p.E678X	Pancreas(196;329 2193 11246 14234 19524)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2032T	12						.						87.0	83.0	84.0					12																	19475494		2203	4300	6503	19366761	SO:0001587	stop_gained	54477	exon15			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2032G>T	12.37:g.19475494G>T	ENSP00000299275:p.Glu678*	Somatic		Capture	Illumina HiSeq	Phase_I	19366761	NM_019012	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506814	0.96386	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	.	.	.	4.76	4.76	0.60689	.	0.050736	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.56	16.1321	0.81446	0.0:0.0:1.0:0.0	.	.	.	.	X	678;736;678;782;781;678;436;736;609;597;570;15	.	ENSP00000299275:E678X	E	+	1	0	PLEKHA5	19366761	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.599000	0.90856	2.462000	0.83206	0.557000	0.71058	GAA		0.383	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
PDE3A	5139	broad.mit.edu	37	12	20790157	20790157	+	Missense_Mutation	SNP	C	C	A	rs373818809		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:20790157C>A	ENST00000359062.3	+	9	2165	c.2125C>A	c.(2125-2127)Cgt>Agt	p.R709S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	709					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.R709S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAAATGTGGCCGTATTCTTAG	0.333																																					p.R709S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2125A	12						.						63.0	62.0	62.0					12																	20790157		2203	4300	6503	20681424	SO:0001583	missense	5139	exon9				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2125C>A	12.37:g.20790157C>A	ENSP00000351957:p.Arg709Ser	Somatic		Capture	Illumina HiSeq	Phase_I	20681424	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308531	0.40895	.	.	ENSG00000172572	ENST00000359062	T	0.77358	-1.09	4.64	3.66	0.41972	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.316875	0.35615	N	0.003088	T	0.68933	0.3055	L	0.41492	1.28	0.39364	D	0.965973	B	0.17852	0.024	B	0.14023	0.01	T	0.67860	-0.5561	10	0.66056	D	0.02	.	11.4644	0.50230	0.0:0.9026:0.0:0.0974	.	709	Q14432	PDE3A_HUMAN	S	709	ENSP00000351957:R709S	ENSP00000351957:R709S	R	+	1	0	PDE3A	20681424	0.756000	0.28383	1.000000	0.80357	0.995000	0.86356	1.007000	0.29860	1.070000	0.40811	0.591000	0.81541	CGT		0.333	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
SLCO1C1	53919	broad.mit.edu	37	12	20854285	20854285	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:20854285G>C	ENST00000266509.2	+	3	531	c.163G>C	c.(163-165)Gcc>Ccc	p.A55P	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.A55P|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.A55P|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.A55P	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	55					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A55P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGTTTACTTTGCCAAAGCATT	0.413																																					p.A55P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163C	12						.						285.0	215.0	239.0					12																	20854285		2203	4300	6503	20745552	SO:0001583	missense	53919	exon3			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.163G>C	12.37:g.20854285G>C	ENSP00000266509:p.Ala55Pro	Somatic		Capture	Illumina HiSeq	Phase_I	20745552	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246717	0.80024	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.24	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053677	0.85682	D	0.000000	T	0.78991	0.4371	M	0.88031	2.925	0.44908	D	0.997925	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.99;0.985	T	0.82804	-0.0276	10	0.51188	T	0.08	.	15.2162	0.73267	0.0:0.0:0.8584:0.1416	.	55;55;55	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	P	55	ENSP00000444149:A55P;ENSP00000438665:A55P;ENSP00000266509:A55P;ENSP00000370964:A55P	ENSP00000266509:A55P	A	+	1	0	SLCO1C1	20745552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.810000	0.62598	1.401000	0.46761	0.655000	0.94253	GCC		0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
SLCO1C1	53919	broad.mit.edu	37	12	20905443	20905443	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:20905443G>A	ENST00000266509.2	+	15	2488	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	SLCO1C1_ENST00000381552.1_3'UTR|SLCO1C1_ENST00000545102.1_3'UTR|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G658D|SLCO1C1_ENST00000545604.1_3'UTR	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	707					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G707D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TACTGGCCAGGCAAGGAAACT	0.348																																					p.G707D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2120A	12						.						75.0	69.0	71.0					12																	20905443		2203	4300	6503	20796710	SO:0001583	missense	53919	exon15			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2120G>A	12.37:g.20905443G>A	ENSP00000266509:p.Gly707Asp	Somatic		Capture	Illumina HiSeq	Phase_I	20796710	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230844	0.22542	.	.	ENSG00000139155	ENST00000540354;ENST00000266509	T;T	0.36878	1.27;1.23	5.44	4.55	0.56014	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.80722	D	1	B;B	0.28439	0.002;0.212	B;B	0.27380	0.004;0.079	T	0.07462	-1.0771	9	0.08837	T	0.75	.	7.9553	0.30038	0.1768:0.0:0.8232:0.0	.	658;707	B7Z3Q3;Q9NYB5	.;SO1C1_HUMAN	D	658;707	ENSP00000438665:G658D;ENSP00000266509:G707D	ENSP00000266509:G707D	G	+	2	0	SLCO1C1	20796710	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.250000	0.51445	1.537000	0.49254	0.655000	0.94253	GGC		0.348	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
SLCO1B3	28234	broad.mit.edu	37	12	21030810	21030810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21030810G>A	ENST00000381545.3	+	10	1294	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	LST3_ENST00000540229.1_Missense_Mutation_p.V359I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V359I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V359I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	359					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.V359I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTACTTACGTCTTTAAATA	0.343																																					p.V359I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1075A	12						.						136.0	135.0	135.0					12																	21030810		2203	4299	6502	20922077	SO:0001583	missense	28234	exon9				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1075G>A	12.37:g.21030810G>A	ENSP00000370956:p.Val359Ile	Somatic		Capture	Illumina HiSeq	Phase_I	20922077	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	0.348	-0.946286	0.02304	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.80214	0.37;0.37;0.37;-1.35;0.37	3.13	-6.25	0.02039	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.708561	0.12983	N	0.423135	T	0.51652	0.1687	N	0.12961	0.28	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.46400	-0.9194	10	0.16420	T	0.52	.	0.3678	0.00374	0.2476:0.3067:0.2072:0.2384	.	359;359;359	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	359;359;359;183;359	ENSP00000261196:V359I;ENSP00000370956:V359I;ENSP00000451758:V359I;ENSP00000443225:V183I;ENSP00000441269:V359I	ENSP00000441269:V359I	V	+	1	0	SLCO1B3;RP11-545J16.1	20922077	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.872000	0.04219	-2.298000	0.00660	-2.575000	0.00170	GTC		0.343	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
SLCO1B7	338821	broad.mit.edu	37	12	21172234	21172234	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21172234A>G	ENST00000421593.2	+	2	138	c.138A>G	c.(136-138)agA>agG	p.R46R	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R46R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AACTACACAGACCGAAGTTAA	0.323																																					p.R46R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A138G	12						.						184.0	176.0	179.0					12																	21172234		2203	4299	6502	21063501	SO:0001819	synonymous_variant	338821	exon2			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.138A>G	12.37:g.21172234A>G		Somatic		Capture	Illumina HiSeq	Phase_I	21063501	NM_001009562	Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.323	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
SLCO1B7	338821	broad.mit.edu	37	12	21196341	21196341	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21196341A>C	ENST00000421593.2	+	6	660	c.660A>C	c.(658-660)atA>atC	p.I220I	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.I267I|LST3_ENST00000381541.3_Silent_p.I267I	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I220I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGTCTGGAATAGTATCCATTA	0.368																																					p.I220I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A660C	12						.						155.0	157.0	156.0					12																	21196341		2203	4300	6503	21087608	SO:0001819	synonymous_variant	338821	exon6			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.660A>C	12.37:g.21196341A>C		Somatic		Capture	Illumina HiSeq	Phase_I	21087608	NM_001009562	Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.368	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
SLCO1B1	10599	broad.mit.edu	37	12	21350095	21350095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21350095G>T	ENST00000256958.2	+	8	1039	c.943G>T	c.(943-945)Gga>Tga	p.G315*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	315					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G315*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GACCAATCAAGGAAAAAATAT	0.308																																					p.G315X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G943T	12						.						60.0	61.0	61.0					12																	21350095		2203	4300	6503	21241362	SO:0001587	stop_gained	10599	exon8				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.943G>T	12.37:g.21350095G>T	ENSP00000256958:p.Gly315*	Somatic		Capture	Illumina HiSeq	Phase_I	21241362	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225792	0.58668	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.08	0.139	0.14798	.	5.091950	0.00166	N	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.5752	0.12230	0.3294:0.1683:0.5023:0.0	.	.	.	.	X	315	.	ENSP00000256958:G315X	G	+	1	0	SLCO1B1	21241362	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.625000	0.05534	0.156000	0.19299	0.313000	0.20887	GGA		0.308	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1B1	10599	broad.mit.edu	37	12	21375292	21375292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21375292G>A	ENST00000256958.2	+	13	1837	c.1741G>A	c.(1741-1743)Gca>Aca	p.A581T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	581					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A581T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GGTTATACGAGCACTAGGTAT	0.234																																					p.A581T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1741A	12						.						96.0	89.0	91.0					12																	21375292		2203	4299	6502	21266559	SO:0001583	missense	10599	exon13				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1741G>A	12.37:g.21375292G>A	ENSP00000256958:p.Ala581Thr	Somatic		Capture	Illumina HiSeq	Phase_I	21266559	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.119416	0.01785	.	.	ENSG00000134538	ENST00000256958	T	0.39592	1.07	3.78	-7.55	0.01327	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.408720	0.04639	N	0.404952	T	0.14917	0.0360	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.16129	-1.0413	10	0.19590	T	0.45	.	4.9068	0.13802	0.3447:0.0:0.2309:0.4244	.	581	Q9Y6L6	SO1B1_HUMAN	T	581	ENSP00000256958:A581T	ENSP00000256958:A581T	A	+	1	0	SLCO1B1	21266559	0.000000	0.05858	0.236000	0.24074	0.948000	0.59901	-1.864000	0.01650	-2.190000	0.00757	0.305000	0.20034	GCA		0.234	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1A2	6579	broad.mit.edu	37	12	21445134	21445134	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21445134G>T	ENST00000307378.6	-	13	2294	c.1574C>A	c.(1573-1575)tCt>tAt	p.S525Y	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S393Y|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S523Y|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S525Y|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S393Y	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	525					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S525Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GGCAGCCAAAGAATAAATGAA	0.378																																					p.S525Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1574A	12						.						35.0	35.0	35.0					12																	21445134		2203	4300	6503	21336401	SO:0001583	missense	6579	exon13				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1574C>A	12.37:g.21445134G>T	ENSP00000305974:p.Ser525Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21336401	NM_134431	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183382	0.78677	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;1.01	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.300687	0.37261	N	0.002177	T	0.81702	0.4878	M	0.92555	3.32	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.85969	0.1475	10	0.72032	D	0.01	.	16.8549	0.86003	0.0:0.0:1.0:0.0	.	523;525	P46721-2;P46721	.;SO1A2_HUMAN	Y	525;525;393;393;523	ENSP00000305974:S525Y;ENSP00000393973:S525Y;ENSP00000394854:S393Y;ENSP00000439401:S393Y;ENSP00000375088:S523Y	ENSP00000305974:S525Y	S	-	2	0	SLCO1A2	21336401	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.336000	0.79245	2.646000	0.89796	0.563000	0.77884	TCT		0.378	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
SLCO1A2	6579	broad.mit.edu	37	12	21446932	21446932	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21446932G>A	ENST00000307378.6	-	12	2104	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	SLCO1A2_ENST00000458504.1_Silent_p.L330L|SLCO1A2_ENST00000390670.3_Silent_p.L460L|SLCO1A2_ENST00000452078.1_Silent_p.L462L|SLCO1A2_ENST00000537524.1_Silent_p.L330L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	462	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.L462L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CAAGCTGACAGATATGACAAG	0.388																																					p.L462L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1384T	12						.						111.0	95.0	101.0					12																	21446932		2203	4300	6503	21338199	SO:0001819	synonymous_variant	6579	exon12				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1384C>T	12.37:g.21446932G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21338199	NM_134431	Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.388	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
SLCO1A2	6579	broad.mit.edu	37	12	21459842	21459842	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21459842A>C	ENST00000307378.6	-	6	1136	c.416T>G	c.(415-417)aTt>aGt	p.I139S	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.I7S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.I137S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I139S|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.I7S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	139					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.I139S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TGGTCTTAAAATCTGGGTTCC	0.373																																					p.I139S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T416G	12						.						116.0	107.0	110.0					12																	21459842		2203	4300	6503	21351109	SO:0001583	missense	6579	exon6				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.416T>G	12.37:g.21459842A>C	ENSP00000305974:p.Ile139Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21351109	NM_134431	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	A	6.494	0.459301	0.12342	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670;ENST00000413682;ENST00000422327	T;T;T;T;T;T;T	0.52295	1.16;1.16;1.16;1.16;1.16;0.67;1.16	4.39	-5.81	0.02340	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.277220	0.01498	N	0.017364	T	0.19644	0.0472	N	0.10972	0.075	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.19224	-1.0312	10	0.06891	T	0.86	.	1.216	0.01914	0.3109:0.2718:0.2838:0.1335	.	119;137;139	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	S	139;139;7;7;137;7;139	ENSP00000305974:I139S;ENSP00000393973:I139S;ENSP00000394854:I7S;ENSP00000439401:I7S;ENSP00000375088:I137S;ENSP00000403638:I7S;ENSP00000416190:I139S	ENSP00000305974:I139S	I	-	2	0	SLCO1A2	21351109	0.973000	0.33851	0.248000	0.24265	0.925000	0.55904	0.212000	0.17497	-0.731000	0.04862	0.455000	0.32223	ATT		0.373	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
GOLT1B	51026	broad.mit.edu	37	12	21661373	21661373	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21661373C>A	ENST00000229314.5	+	3	283	c.174C>A	c.(172-174)ttC>ttA	p.F58L	GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F58L|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	58	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)	p.F58L(1)		large_intestine(2)|lung(3)	5						CATTCAGATTCTTCTTCCAAA	0.338																																					p.F58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C174A	12						.						107.0	108.0	107.0					12																	21661373		2201	4300	6501	21552640	SO:0001583	missense	51026	exon3			AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.174C>A	12.37:g.21661373C>A	ENSP00000229314:p.Phe58Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21552640	NM_016072	B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	37	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746433	0.89663	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.44881	0.91;0.91	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71467	-0.4584	10	0.87932	D	0	-5.8736	11.0547	0.47911	0.0:0.8591:0.0:0.1408	.	58	Q9Y3E0	GOT1B_HUMAN	L	58	ENSP00000437351:F58L;ENSP00000229314:F58L	ENSP00000229314:F58L	F	+	3	2	GOLT1B	21552640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.337000	0.52120	1.490000	0.48466	0.650000	0.86243	TTC		0.338	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072	
GYS2	2998	broad.mit.edu	37	12	21728932	21728932	+	Silent	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21728932G>C	ENST00000261195.2	-	3	617	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	121					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.G121G(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGCTGAATAGCCTATGTCAA	0.433																																					p.G121G	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363G	12						.						128.0	115.0	120.0					12																	21728932		2203	4300	6503	21620199	SO:0001819	synonymous_variant	2998	exon3				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.363C>G	12.37:g.21728932G>C		Somatic		Capture	Illumina HiSeq	Phase_I	21620199	NM_021957	A0AVD8	Silent	SNP	ENST00000261195.2	37	CCDS8690.1																																																																																				0.433	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
KCNJ8	3764	broad.mit.edu	37	12	21918964	21918964	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21918964C>T	ENST00000240662.2	-	3	1313	c.968G>A	c.(967-969)cGc>cAc	p.R323H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	323					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R323H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GGACACAAAGCGGTGGCCCCA	0.488																																					p.R323H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G968A	12						.						96.0	87.0	90.0					12																	21918964		2203	4300	6503	21810231	SO:0001583	missense	3764	exon3			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.968G>A	12.37:g.21918964C>T	ENSP00000240662:p.Arg323His	Somatic		Capture	Illumina HiSeq	Phase_I	21810231	NM_004982	O00657	Missense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915145	0.92178	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.95447	-3.71	5.3	5.3	0.74995	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98740	1.0716	10	0.87932	D	0	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	323	Q15842	IRK8_HUMAN	H	323	ENSP00000240662:R323H	ENSP00000240662:R323H	R	-	2	0	KCNJ8	21810231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	2.757000	0.94681	0.563000	0.77884	CGC		0.488	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
ABCC9	10060	broad.mit.edu	37	12	21954112	21954112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21954112G>A	ENST00000261200.4	-	38	4515	c.4516C>T	c.(4516-4518)Cga>Tga	p.R1506*		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1506	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1506*(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTGTGTACTCGATGCTGTGAG	0.388																																					p.R1506X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4516T	12						.						88.0	83.0	84.0					12																	21954112		2203	4300	6503	21845379	SO:0001587	stop_gained	10060	exon38			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4516C>T	12.37:g.21954112G>A	ENSP00000261200:p.Arg1506*	Somatic		Capture	Illumina HiSeq	Phase_I	21845379	NM_020297	O60707	Nonsense_Mutation	SNP	ENST00000261200.4	37	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	G	43	9.966465	0.99307	.	.	ENSG00000069431	ENST00000261200	.	.	.	4.88	4.88	0.63580	.	0.062942	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0267	18.5784	0.91163	0.0:0.0:1.0:0.0	.	.	.	.	X	1506	.	ENSP00000261200:R1506X	R	-	1	2	ABCC9	21845379	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.097000	0.71452	2.695000	0.91970	0.650000	0.86243	CGA		0.388	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21965037	21965037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21965037C>T	ENST00000261201.4	-	34	4156	c.4157G>A	c.(4156-4158)cGt>cAt	p.R1386H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1350H|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1386H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1386	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1386H(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGTCTAGAACGTAGTGTGTG	0.373																																					p.R1386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4157A	12						.						234.0	202.0	213.0					12																	21965037		2203	4300	6503	21856304	SO:0001583	missense	10060	exon34			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4157G>A	12.37:g.21965037C>T	ENSP00000261201:p.Arg1386His	Somatic		Capture	Illumina HiSeq	Phase_I	21856304	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840098	0.91117	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	M	0.87381	2.88	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98262	1.0499	10	0.87932	D	0	-10.7894	18.1757	0.89760	0.0:1.0:0.0:0.0	.	1386;1386	O60706;O60706-2	ABCC9_HUMAN;.	H	1386;1013;1386;1350	ENSP00000261200:R1386H;ENSP00000440521:R1013H;ENSP00000261201:R1386H;ENSP00000261202:R1350H	ENSP00000261200:R1386H	R	-	2	0	ABCC9	21856304	1.000000	0.71417	0.676000	0.29932	0.959000	0.62525	7.353000	0.79414	2.609000	0.88269	0.650000	0.86243	CGT		0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21998616	21998616	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:21998616G>A	ENST00000261201.4	-	24	3016	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	ABCC9_ENST00000345162.2_Missense_Mutation_p.S970L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1006L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S1006L(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TACAATGACCGAATGCTTCAA	0.438																																					p.S1006L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3017T	12						.						122.0	106.0	112.0					12																	21998616		2203	4300	6503	21889883	SO:0001583	missense	10060	exon24			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3017C>T	12.37:g.21998616G>A	ENSP00000261201:p.Ser1006Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21889883	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521740	0.44866	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	L	0.28115	0.83	0.80722	D	1	P;P	0.49559	0.534;0.925	B;B	0.43508	0.298;0.422	D	0.85918	0.1444	10	0.46703	T	0.11	-10.2527	19.1181	0.93350	0.0:0.0:1.0:0.0	.	1006;1006	O60706;O60706-2	ABCC9_HUMAN;.	L	1006;633;1006;970	ENSP00000261200:S1006L;ENSP00000440521:S633L;ENSP00000261201:S1006L;ENSP00000261202:S970L	ENSP00000261200:S1006L	S	-	2	0	ABCC9	21889883	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.547000	0.98100	2.756000	0.94617	0.655000	0.94253	TCG		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	22040797	22040797	+	Missense_Mutation	SNP	G	G	A	rs75460545		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22040797G>A	ENST00000261201.4	-	13	1873	c.1874C>T	c.(1873-1875)tCg>tTg	p.S625L	ABCC9_ENST00000345162.2_Missense_Mutation_p.S625L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S625L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	625					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S625L(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAAGGAAGCGAACTTTCACC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20288	0.0		0.0	False		,,,				2504	0.0				p.S625L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1874T	12						.						119.0	116.0	117.0					12																	22040797		2203	4300	6503	21932064	SO:0001583	missense	10060	exon13			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1874C>T	12.37:g.22040797G>A	ENSP00000261201:p.Ser625Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21932064	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.76	2.929480	0.52759	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92647	-3.04;-2.93;-3.05;-3.08	5.16	5.16	0.70880	.	0.318406	0.34484	N	0.003921	D	0.87493	0.6191	N	0.24115	0.695	0.30690	N	0.751452	B;B	0.20459	0.045;0.039	B;B	0.17979	0.011;0.02	D	0.83829	0.0251	10	0.59425	D	0.04	-2.9965	18.4226	0.90597	0.0:0.0:1.0:0.0	.	625;625	O60706;O60706-2	ABCC9_HUMAN;.	L	625;288;625;625	ENSP00000261200:S625L;ENSP00000440521:S288L;ENSP00000261201:S625L;ENSP00000261202:S625L	ENSP00000261200:S625L	S	-	2	0	ABCC9	21932064	0.998000	0.40836	0.728000	0.30774	0.603000	0.37013	8.528000	0.90598	2.698000	0.92095	0.561000	0.74099	TCG		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	22068668	22068668	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22068668T>C	ENST00000261201.4	-	5	749	c.750A>G	c.(748-750)aaA>aaG	p.K250K	ABCC9_ENST00000345162.2_Silent_p.K250K|ABCC9_ENST00000261200.4_Silent_p.K250K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	250					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.K250K(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTATTGGCAATTTTCCAATTG	0.358																																					p.K250K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A750G	12						.						148.0	136.0	140.0					12																	22068668		2203	4300	6503	21959935	SO:0001819	synonymous_variant	10060	exon5			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.750A>G	12.37:g.22068668T>C		Somatic		Capture	Illumina HiSeq	Phase_I	21959935	NM_020297	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
CMAS	55907	broad.mit.edu	37	12	22214254	22214254	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22214254A>C	ENST00000229329.2	+	6	958	c.828A>C	c.(826-828)aaA>aaC	p.K276N		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	276					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.K276N(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGGAAATAAAACTTTTGGTTT	0.338																																					p.K276N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A828C	12						.						106.0	113.0	111.0					12																	22214254		2203	4300	6503	22105521	SO:0001583	missense	55907	exon6			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.828A>C	12.37:g.22214254A>C	ENSP00000229329:p.Lys276Asn	Somatic		Capture	Illumina HiSeq	Phase_I	22105521	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947377	0.73672	.	.	ENSG00000111726	ENST00000229329	T	0.29142	1.58	5.82	-2.54	0.06307	HAD-like domain (2);	0.048409	0.85682	D	0.000000	T	0.48926	0.1527	M	0.71581	2.175	0.36639	D	0.876762	D	0.89917	1.0	D	0.81914	0.995	T	0.57825	-0.7744	10	0.56958	D	0.05	-5.4782	13.8793	0.63674	0.423:0.0:0.577:0.0	.	276	Q8NFW8	NEUA_HUMAN	N	276	ENSP00000229329:K276N	ENSP00000229329:K276N	K	+	3	2	CMAS	22105521	0.995000	0.38212	0.992000	0.48379	0.995000	0.86356	0.319000	0.19522	-0.319000	0.08652	0.482000	0.46254	AAA		0.338	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
CMAS	55907	broad.mit.edu	37	12	22218239	22218239	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22218239A>G	ENST00000229329.2	+	8	1429	c.1299A>G	c.(1297-1299)caA>caG	p.Q433Q		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	433					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.Q433Q(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATTCATGCCAAAAATAGAAAT	0.343																																					p.Q433Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1299G	12						.						63.0	70.0	68.0					12																	22218239		2203	4300	6503	22109506	SO:0001819	synonymous_variant	55907	exon8			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1299A>G	12.37:g.22218239A>G		Somatic		Capture	Illumina HiSeq	Phase_I	22109506	NM_018686	Q96AX5|Q9NQZ0	Silent	SNP	ENST00000229329.2	37	CCDS8696.1																																																																																				0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
ST8SIA1	6489	broad.mit.edu	37	12	22354546	22354546	+	Silent	SNP	G	G	A	rs375498016		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22354546G>A	ENST00000396037.4	-	5	1492	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ST8SIA1_ENST00000539510.1_Silent_p.I194I	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	337					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.I337I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGTGCACCGATTTTATGAA	0.483																																					p.I337I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	12						.	G		0,4406		0,0,2203	109.0	111.0	110.0		1011	-9.1	0.5	12		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST8SIA1	NM_003034.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		337/357	22354546	1,13005	2203	4300	6503	22245813	SO:0001819	synonymous_variant	6489	exon5			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.1011C>T	12.37:g.22354546G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22245813	NM_003034	A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	CCDS8697.1																																																																																				0.483	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034	
ST8SIA1	6489	broad.mit.edu	37	12	22440221	22440221	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22440221T>G	ENST00000396037.4	-	2	724	c.243A>C	c.(241-243)caA>caC	p.Q81H	ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	81					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.Q81H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AGTCTTCCATTTGTTTCCTAG	0.443																																					p.Q81H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A243C	12						.						63.0	65.0	64.0					12																	22440221		2203	4300	6503	22331488	SO:0001583	missense	6489	exon2			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.243A>C	12.37:g.22440221T>G	ENSP00000379353:p.Gln81His	Somatic		Capture	Illumina HiSeq	Phase_I	22331488	NM_003034	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485122	0.44147	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T	0.63913	-0.07;-0.07	5.59	0.954	0.19595	.	0.228496	0.38837	N	0.001554	T	0.42223	0.1193	N	0.22421	0.69	0.80722	D	1	B	0.18013	0.025	B	0.20184	0.028	T	0.10660	-1.0620	9	.	.	.	-10.6661	9.47	0.38835	0.0:0.6921:0.0:0.3079	.	81	Q92185	SIA8A_HUMAN	H	81;32;58	ENSP00000379353:Q81H;ENSP00000440292:Q58H	.	Q	-	3	2	ST8SIA1	22331488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.329000	0.43876	0.150000	0.19136	0.533000	0.62120	CAA		0.443	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034	
C2CD5	9847	broad.mit.edu	37	12	22602816	22602816	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22602816G>T	ENST00000333957.4	-	25	3136	c.2881C>A	c.(2881-2883)Ctt>Att	p.L961I	C2CD5_ENST00000545552.1_Missense_Mutation_p.L1015I|C2CD5_ENST00000544930.1_Missense_Mutation_p.L817I|C2CD5_ENST00000396028.2_Missense_Mutation_p.L1003I|C2CD5_ENST00000542676.1_Missense_Mutation_p.L1012I|C2CD5_ENST00000446597.1_Missense_Mutation_p.L1012I|C2CD5_ENST00000536386.1_Missense_Mutation_p.L1014I	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	961					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.L817I(1)|p.L961I(1)									ACATTTATAAGACACTGTGCC	0.408																																					p.L961I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2881A	12						.						169.0	142.0	151.0					12																	22602816		2203	4300	6503	22494083	SO:0001583	missense	9847	exon25			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2881C>A	12.37:g.22602816G>T	ENSP00000334229:p.Leu961Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22494083	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086874	0.76642	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T	0.75154	-0.8;-0.88;-0.91;-0.89;-0.88;-0.9	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000004	D	0.83774	0.5327	M	0.72894	2.215	0.53005	D	0.99996	D;D;D;D;D	0.76494	0.999;0.998;0.997;0.999;0.993	D;D;D;D;D	0.87578	0.998;0.994;0.979;0.995;0.987	D	0.85050	0.0928	10	0.72032	D	0.01	-20.505	11.7158	0.51653	0.0942:0.0:0.9058:0.0	.	1014;1012;817;1003;961	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	I	961;1012;1014;1003;1012;1015;817	ENSP00000334229:L961I;ENSP00000388756:L1012I;ENSP00000439392:L1014I;ENSP00000379345:L1003I;ENSP00000441951:L1012I;ENSP00000443204:L1015I	ENSP00000334229:L961I	L	-	1	0	KIAA0528	22494083	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.375000	0.66173	2.458000	0.83093	0.655000	0.94253	CTT		0.408	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
C2CD5	9847	broad.mit.edu	37	12	22623770	22623770	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22623770A>C	ENST00000333957.4	-	21	2689	c.2434T>G	c.(2434-2436)Tca>Gca	p.S812A	C2CD5_ENST00000545552.1_Missense_Mutation_p.S825A|C2CD5_ENST00000544930.1_Missense_Mutation_p.S627A|C2CD5_ENST00000396028.2_Missense_Mutation_p.S803A|C2CD5_ENST00000542676.1_Missense_Mutation_p.S812A|C2CD5_ENST00000446597.1_Missense_Mutation_p.S812A|C2CD5_ENST00000536386.1_Missense_Mutation_p.S814A	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	812					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.S812A(1)|p.S627A(1)									CTTTGCAATGACTTTTCAACA	0.348																																					p.S812A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2434G	12						.						134.0	129.0	131.0					12																	22623770		2203	4300	6503	22515037	SO:0001583	missense	9847	exon21			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2434T>G	12.37:g.22623770A>C	ENSP00000334229:p.Ser812Ala	Somatic		Capture	Illumina HiSeq	Phase_I	22515037	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.636|5.636	0.301985|0.301985	0.10678|0.10678	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.64618|.	-0.11;-0.08;-0.09;-0.09;-0.08;-0.04|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.192084|0.192084	0.39834|0.39834	N|N	0.001255|0.001255	T|T	0.30947|0.30947	0.0781|0.0781	N|N	0.08118|0.08118	0|0	0.32986|0.32986	D|D	0.524289|0.524289	B;B;B;B;B|.	0.20052|.	0.007;0.025;0.023;0.041;0.009|.	B;B;B;B;B|.	0.21708|.	0.015;0.036;0.029;0.019;0.004|.	T|T	0.44034|0.44034	-0.9354|-0.9354	10|6	0.46703|.	T|.	0.11|.	-11.4858|-11.4858	12.565|12.565	0.56304|0.56304	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	814;812;627;803;812|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	A|R	812;812;814;803;812;825;627|95	ENSP00000334229:S812A;ENSP00000388756:S812A;ENSP00000439392:S814A;ENSP00000379345:S803A;ENSP00000441951:S812A;ENSP00000443204:S825A|.	ENSP00000334229:S812A|.	S|S	-|-	1|3	0|2	KIAA0528|KIAA0528	22515037|22515037	0.998000|0.998000	0.40836|0.40836	0.990000|0.990000	0.47175|0.47175	0.062000|0.062000	0.15995|0.15995	1.467000|1.467000	0.35321|0.35321	2.104000|2.104000	0.64026|0.64026	0.482000|0.482000	0.46254|0.46254	TCA|AGT		0.348	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
C2CD5	9847	broad.mit.edu	37	12	22624358	22624358	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:22624358G>T	ENST00000333957.4	-	20	2588	c.2333C>A	c.(2332-2334)tCt>tAt	p.S778Y	C2CD5_ENST00000545552.1_Missense_Mutation_p.S791Y|C2CD5_ENST00000544930.1_Missense_Mutation_p.S593Y|C2CD5_ENST00000396028.2_Missense_Mutation_p.S769Y|C2CD5_ENST00000542676.1_Missense_Mutation_p.S778Y|C2CD5_ENST00000446597.1_Missense_Mutation_p.S778Y|C2CD5_ENST00000536386.1_Missense_Mutation_p.S780Y	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	778					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.S593Y(1)|p.S778Y(1)									TTCAGGCAGAGATACTGTAAA	0.289																																					p.S778Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2333A	12						.						64.0	69.0	67.0					12																	22624358		2203	4297	6500	22515625	SO:0001583	missense	9847	exon20			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2333C>A	12.37:g.22624358G>T	ENSP00000334229:p.Ser778Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	22515625	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948454|3.948454	0.73787|0.73787	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000539615|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T	.|0.65364	.|-0.12;-0.15;-0.15;-0.15;-0.15;-0.13	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.067694	.|0.64402	.|D	.|0.000009	T|T	0.55924|0.55924	0.1951|0.1951	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999965|0.999965	.|P;P;P;P;B	.|0.45672	.|0.852;0.856;0.852;0.864;0.412	.|B;B;P;P;B	.|0.49953	.|0.292;0.248;0.627;0.603;0.084	T|T	0.64960|0.64960	-0.6284|-0.6284	5|10	.|0.66056	.|D	.|0.02	-22.5353|-22.5353	19.0589|19.0589	0.93078|0.93078	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|780;778;593;769;778	.|F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.|.;.;.;.;K0528_HUMAN	I|Y	62|778;778;780;769;778;791;593	.|ENSP00000334229:S778Y;ENSP00000388756:S778Y;ENSP00000439392:S780Y;ENSP00000379345:S769Y;ENSP00000441951:S778Y;ENSP00000443204:S791Y	.|ENSP00000334229:S778Y	L|S	-|-	1|2	0|0	KIAA0528|KIAA0528	22515625|22515625	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	8.549000|8.549000	0.90672|0.90672	2.583000|2.583000	0.87209|0.87209	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.289	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
SOX5	6660	broad.mit.edu	37	12	23728587	23728587	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:23728587G>T	ENST00000451604.2	-	10	1444				SOX5_ENST00000546136.1_Intron|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Intron|SOX5_ENST00000396007.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5						cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAAAGAAACAGAACTTACCTA	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						85.0	83.0	84.0					12																	23728587		2203	4300	6503	23619854	SO:0001627	intron_variant	6660	.			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1342+7C>A	12.37:g.23728587G>T		Somatic		Capture	Illumina HiSeq	Phase_I	23619854	.	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Intron	SNP	ENST00000451604.2	37	CCDS8699.1																																																																																				0.443	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
SOX5	6660	broad.mit.edu	37	12	23887649	23887649	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:23887649T>C	ENST00000451604.2	-	6	880	c.779A>G	c.(778-780)cAc>cGc	p.H260R	SOX5_ENST00000546136.1_Missense_Mutation_p.H247R|SOX5_ENST00000537393.1_Missense_Mutation_p.H225R|SOX5_ENST00000381381.2_Missense_Mutation_p.H247R|SOX5_ENST00000545921.1_Missense_Mutation_p.H250R|SOX5_ENST00000541536.1_Missense_Mutation_p.H247R|SOX5_ENST00000309359.1_Missense_Mutation_p.H247R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	260					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)	p.H260R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATTGATTTTGTGTTGTTGCTG	0.333																																					p.H247R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A740G	12						.						140.0	134.0	136.0					12																	23887649		2203	4300	6503	23778916	SO:0001583	missense	6660	exon9			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.779A>G	12.37:g.23887649T>C	ENSP00000398273:p.His260Arg	Somatic		Capture	Illumina HiSeq	Phase_I	23778916	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264434	0.80358	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.98234	-4.72;-4.72;-4.81;-4.72;-4.75;-4.81;-4.72	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.82716	2.605	0.58432	D	0.999997	P;P;P	0.51449	0.93;0.89;0.945	P;D;P	0.64237	0.777;0.923;0.696	D	0.99537	1.0962	10	0.59425	D	0.04	.	14.9279	0.70893	0.0:0.0:0.0:1.0	.	225;247;260	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	R	247;247;247;260;212;225;247;250	ENSP00000437487:H247R;ENSP00000308927:H247R;ENSP00000370788:H247R;ENSP00000398273:H260R;ENSP00000439832:H225R;ENSP00000441973:H247R;ENSP00000443520:H250R	ENSP00000308927:H247R	H	-	2	0	SOX5	23778916	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	1.937000	0.56155	0.460000	0.39030	CAC		0.333	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
SOX5	6660	broad.mit.edu	37	12	24048886	24048886	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:24048886C>A	ENST00000451604.2	-	2	212	c.111G>T	c.(109-111)caG>caT	p.Q37H	SOX5_ENST00000441133.2_Missense_Mutation_p.Q37H|SOX5_ENST00000546136.1_Missense_Mutation_p.Q24H|SOX5_ENST00000537393.1_Missense_Mutation_p.Q37H|SOX5_ENST00000381381.2_Missense_Mutation_p.Q24H|SOX5_ENST00000545921.1_Missense_Mutation_p.Q27H|SOX5_ENST00000541847.1_Missense_Mutation_p.Q27H|SOX5_ENST00000541536.1_Missense_Mutation_p.Q24H|SOX5_ENST00000309359.1_Missense_Mutation_p.Q24H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	37					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)	p.Q37H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCACTTTCTGTCTGCTTG	0.502																																					p.Q24H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G72T	12						.						232.0	219.0	223.0					12																	24048886		2203	4300	6503	23940153	SO:0001583	missense	6660	exon5			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.111G>T	12.37:g.24048886C>A	ENSP00000398273:p.Gln37His	Somatic		Capture	Illumina HiSeq	Phase_I	23940153	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207019	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97209	-4.25;-4.25;-4.27;-4.25;-4.29;-4.27;-4.25	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.64830	0.994;0.967;0.988;0.988	D;P;D;P	0.75484	0.986;0.77;0.977;0.805	D	0.98498	1.0613	10	0.62326	D	0.03	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	37;37;24;37	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	H	24;24;24;37;24;37;24;27;27;37;24	ENSP00000437487:Q24H;ENSP00000308927:Q24H;ENSP00000370788:Q24H;ENSP00000398273:Q37H;ENSP00000439832:Q37H;ENSP00000441973:Q24H;ENSP00000443520:Q27H	ENSP00000308927:Q24H	Q	-	3	2	SOX5	23940153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.176000	0.77643	2.861000	0.98227	0.650000	0.86243	CAG		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
MIR920	100126320	broad.mit.edu	37	12	24365346	24365346	+	RNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:24365346A>G	ENST00000401373.1	+	0	0					NR_030625.1				microRNA 920																		AAAACTGAAAAAGCCACTGGT	0.413																																					.												.	.	0			.	12						.						122.0	120.0	120.0					12																	24365346		1568	3582	5150	24256613			6660	.					12p12.1	2011-09-12		2008-12-18	ENSG00000216192	ENSG00000216192		"""ncRNAs / Micro RNAs"""	33670	non-coding RNA	RNA, micro				MIRN920			Standard	NR_030625		Approved	hsa-mir-920	uc021qwc.1				12.37:g.24365346A>G		Somatic		Capture	Illumina HiSeq	Phase_I	24256613	.		Intron	SNP	ENST00000401373.1	37																																																																																					0.413	MIR920-201	KNOWN	basic	miRNA	miRNA		NR_030625	
LINC00477	144360	broad.mit.edu	37	12	24736889	24736889	+	lincRNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:24736889G>A	ENST00000483544.1	-	0	213					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)		p.F55F(1)									AAACCCCCGCGAAGAAAAAGA	0.498																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	12						.						44.0	47.0	46.0					12																	24736889		2203	4300	6503	24628156			144360	.			AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736889G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24628156	.		Silent	SNP	ENST00000483544.1	37																																																																																					0.498	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667	
BCAT1	586	broad.mit.edu	37	12	25002728	25002728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25002728C>A	ENST00000261192.7	-	6	1192	c.666G>T	c.(664-666)aaG>aaT	p.K222N	BCAT1_ENST00000342945.5_Missense_Mutation_p.K161N|BCAT1_ENST00000539282.1_Missense_Mutation_p.K234N|BCAT1_ENST00000538118.1_Missense_Mutation_p.K221N|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.K185N	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	222					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.K222N(1)		breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	ACCCTCCCATCTTGCAGTCCC	0.433																																					p.K161N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G483T	12						.						183.0	176.0	179.0					12																	25002728		1882	4112	5994	24893995	SO:0001583	missense	586	exon4				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.666G>T	12.37:g.25002728C>A	ENSP00000261192:p.Lys222Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24893995	NM_001178092	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649324	0.67358	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.33	1.01	0.19927	.	0.000000	0.85682	D	0.000000	D	0.83723	0.5316	H	0.98664	4.295	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.992;0.999;0.996;0.998;0.999	D;D;D;D;D	0.79108	0.976;0.978;0.968;0.981;0.992	T	0.82317	-0.0517	10	0.87932	D	0	-21.5269	7.4426	0.27192	0.0:0.3823:0.0:0.6177	.	185;234;161;222;221	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	N	222;221;161;234;185	ENSP00000261192:K222N;ENSP00000440817:K221N;ENSP00000339805:K161N;ENSP00000443459:K234N;ENSP00000440827:K185N	ENSP00000261192:K222N	K	-	3	2	BCAT1	24893995	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	0.933000	0.28897	0.170000	0.19704	-0.140000	0.14226	AAG		0.433	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504	
CASC1	55259	broad.mit.edu	37	12	25272172	25272172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25272172C>T	ENST00000320267.9	-	11	1366	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	CASC1_ENST00000395987.3_Missense_Mutation_p.E435K|CASC1_ENST00000537577.1_Missense_Mutation_p.E317K|CASC1_ENST00000354189.5_Missense_Mutation_p.E493K|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.E389K|CASC1_ENST00000545133.1_Missense_Mutation_p.E370K	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	429								p.E435K(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AAAGCATTTTCTGTCTCAAAC	0.383																																					p.E493K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	12						.						126.0	115.0	119.0					12																	25272172		2203	4300	6503	25163439	SO:0001583	missense	55259	exon12			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1285G>A	12.37:g.25272172C>T	ENSP00000313141:p.Glu429Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25163439	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.773417|2.773417	0.49786|0.49786	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.51071|.	0.72;1.32;1.32;0.73;0.73|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Casc1 domain (1);|.	0.397992|.	0.26112|.	N|.	0.026262|.	T|T	0.59622|0.59622	0.2207|0.2207	M|M	0.66939|0.66939	2.045|2.045	0.21355|0.21355	N|N	0.999717|0.999717	D;D;D;D;D|.	0.69078|.	0.997;0.99;0.99;0.992;0.99|.	D;P;P;P;P|.	0.68943|.	0.961;0.797;0.872;0.871;0.797|.	T|T	0.54364|0.54364	-0.8305|-0.8305	10|5	0.22706|.	T|.	0.39|.	-15.4443|-15.4443	15.7855|15.7855	0.78300|0.78300	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	317;370;493;429;435|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	K|K	493;435;429;389;317;435;370;239|265	ENSP00000346126:E493K;ENSP00000379310:E435K;ENSP00000313141:E429K;ENSP00000379313:E389K;ENSP00000437373:E370K|.	ENSP00000313141:E429K|.	E|R	-|-	1|2	0|0	CASC1|CASC1	25163439|25163439	0.942000|0.942000	0.31987|0.31987	0.068000|0.068000	0.19968|0.19968	0.145000|0.145000	0.21501|0.21501	1.958000|1.958000	0.40402|0.40402	2.496000|2.496000	0.84212|0.84212	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.383	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25297373	25297373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25297373C>A	ENST00000320267.9	-	8	991	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	CASC1_ENST00000395987.3_Nonsense_Mutation_p.E310*|CASC1_ENST00000537577.1_Nonsense_Mutation_p.E192*|CASC1_ENST00000354189.5_Nonsense_Mutation_p.E368*|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Nonsense_Mutation_p.E264*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.E245*	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	304								p.E310*(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GACCCTCTTTCTTGTTGTTTG	0.358																																					p.E368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1102T	12						.						216.0	211.0	212.0					12																	25297373		2203	4300	6503	25188640	SO:0001587	stop_gained	55259	exon9			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.910G>T	12.37:g.25297373C>A	ENSP00000313141:p.Glu304*	Somatic		Capture	Illumina HiSeq	Phase_I	25188640	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Nonsense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983509	0.74474	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.	.	.	4.25	3.36	0.38483	.	1.137000	0.06567	N	0.747893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-2.7702	7.8235	0.29300	0.0:0.8864:0.0:0.1136	.	.	.	.	X	368;310;304;264;192;310;245;114	.	ENSP00000313141:E304X	E	-	1	0	CASC1	25188640	0.008000	0.16893	0.009000	0.14445	0.007000	0.05969	1.538000	0.36094	1.006000	0.39211	-0.245000	0.11935	GAA		0.358	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25297606	25297606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25297606C>A	ENST00000320267.9	-	8	758	c.677G>T	c.(676-678)aGa>aTa	p.R226I	CASC1_ENST00000395987.3_Missense_Mutation_p.R232I|CASC1_ENST00000537577.1_Missense_Mutation_p.R114I|CASC1_ENST00000354189.5_Missense_Mutation_p.R290I|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.R186I|CASC1_ENST00000545133.1_Missense_Mutation_p.R167I	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	226								p.R232I(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTAACACTTCTGTGCCTGTT	0.348																																					p.R290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869T	12						.						76.0	79.0	78.0					12																	25297606		2203	4300	6503	25188873	SO:0001583	missense	55259	exon9			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.677G>T	12.37:g.25297606C>A	ENSP00000313141:p.Arg226Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25188873	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698908	0.68501	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.25	-0.424	0.12321	.	0.403404	0.26072	N	0.026516	T	0.34250	0.0891	L	0.36672	1.1	0.42964	D	0.994415	D;D;D;D;D	0.63880	0.989;0.989;0.993;0.966;0.989	P;P;P;P;P	0.61201	0.885;0.885;0.878;0.641;0.885	T	0.08166	-1.0735	10	0.52906	T	0.07	-8.9611	7.3539	0.26709	0.0:0.4023:0.0:0.5977	.	114;167;290;226;232	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	I	290;232;226;186;114;232;167	ENSP00000346126:R290I;ENSP00000379310:R232I;ENSP00000313141:R226I;ENSP00000379313:R186I;ENSP00000444715:R114I;ENSP00000437373:R167I	ENSP00000313141:R226I	R	-	2	0	CASC1	25188873	0.000000	0.05858	0.714000	0.30535	0.963000	0.63663	-1.078000	0.03413	0.003000	0.14656	-0.152000	0.13540	AGA		0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25311443	25311443	+	Missense_Mutation	SNP	C	C	T	rs140615558		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25311443C>T	ENST00000320267.9	-	3	224	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CASC1_ENST00000395987.3_Missense_Mutation_p.R54Q|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000354189.5_Missense_Mutation_p.R112Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.R8Q|CASC1_ENST00000545133.1_Intron	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	48	Glu-rich.							p.R54Q(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTCTCAATTCGCTGTATTTC	0.299																																					p.R112Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G335A	12						.	C	GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	120.0	122.0		335,143,,23,161	2.2	0.0	12	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,intron,missense,missense	CASC1	NM_001082972.1,NM_001082973.1,NM_001204101.1,NM_001204102.1,NM_018272.3	43,43,,43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging	112/691,48/717,,8/677,54/723	25311443	1,13003	2203	4299	6502	25202710	SO:0001583	missense	55259	exon4			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.143G>A	12.37:g.25311443C>T	ENSP00000313141:p.Arg48Gln	Somatic		Capture	Illumina HiSeq	Phase_I	25202710	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005716	0.19199	2.27E-4	0.0	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000389246;ENST00000554347	T;T;T;T;T	0.53640	2.19;1.33;1.32;0.61;2.13	5.42	2.15	0.27550	.	0.324209	0.26967	N	0.021590	T	0.30603	0.0770	L	0.40543	1.245	0.21897	N	0.99948	P;B;B	0.34615	0.459;0.056;0.179	B;B;B	0.23018	0.024;0.006;0.043	T	0.12785	-1.0534	10	0.39692	T	0.17	-9.9041	8.0894	0.30793	0.0:0.7029:0.0:0.2971	.	112;48;54	Q6TDU7-3;Q6TDU7;F8W8F9	.;CASC1_HUMAN;.	Q	112;54;48;8;54;8;8	ENSP00000346126:R112Q;ENSP00000379310:R54Q;ENSP00000313141:R48Q;ENSP00000379313:R8Q;ENSP00000451232:R8Q	ENSP00000313141:R48Q	R	-	2	0	CASC1	25202710	0.833000	0.29383	0.013000	0.15412	0.751000	0.42716	1.928000	0.40104	0.659000	0.30945	0.573000	0.79308	CGA		0.299	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
LYRM5	144363	broad.mit.edu	37	12	25357151	25357151	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:25357151G>A	ENST00000381356.4	+	3	337	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.E58K|LYRM5_ENST00000556927.1_Missense_Mutation_p.E58K|LYRM5_ENST00000557540.2_Missense_Mutation_p.E58K|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556885.1_Missense_Mutation_p.E58K	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	60						mitochondrion (GO:0005739)		p.E60K(1)		large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGCACAGGGCGAATTTGTAAT	0.328																																					p.E60K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	12						.																																			25248418	SO:0001583	missense	144363	exon3			AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"""LYR motif containing"""	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.178G>A	12.37:g.25357151G>A	ENSP00000370761:p.Glu60Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25248418	NM_001001660	J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	CCDS53764.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386727	0.61956	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	6.03	4.11	0.48088	.	0.087076	0.85682	N	0.000000	T	0.55577	0.1929	.	.	.	0.80722	D	1	B	0.18310	0.027	B	0.18263	0.021	T	0.49254	-0.8959	9	0.38643	T	0.18	.	10.2158	0.43168	0.0789:0.1327:0.7884:0.0	.	58	Q6IPR1	LYRM5_HUMAN	K	58;60;58;58;58	ENSP00000450584:E58K;ENSP00000370761:E60K;ENSP00000451494:E58K;ENSP00000452146:E58K;ENSP00000450443:E58K	ENSP00000370761:E60K	E	+	1	0	LYRM5	25248418	1.000000	0.71417	0.893000	0.35052	0.922000	0.55478	3.079000	0.50104	0.775000	0.33450	0.655000	0.94253	GAA		0.328	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660	
BHLHE41	79365	broad.mit.edu	37	12	26277707	26277707	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:26277707G>A	ENST00000242728.4	-	1	353	c.6C>T	c.(4-6)gaC>gaT	p.D2D	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	2					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)	p.D2D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GAATTCCTTCGTCCATGTTCA	0.468																																					p.D2D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6T	12						.						218.0	210.0	213.0					12																	26277707		2203	4300	6503	26168974	SO:0001819	synonymous_variant	79365	exon1			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.6C>T	12.37:g.26277707G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26168974	NM_030762	A2I2N8	Silent	SNP	ENST00000242728.4	37	CCDS8706.1																																																																																				0.468	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762	
ITPR2	3709	broad.mit.edu	37	12	26493180	26493180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:26493180G>A	ENST00000381340.3	-	56	8355	c.7939C>T	c.(7939-7941)Cgg>Tgg	p.R2647W	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2647					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R2647W(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGAAGGCTCCGAATTTCATTT	0.502																																					p.R2647W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7939T	12						.						67.0	67.0	67.0					12																	26493180		1986	4212	6198	26384447	SO:0001583	missense	3709	exon56			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7939C>T	12.37:g.26493180G>A	ENSP00000370744:p.Arg2647Trp	Somatic		Capture	Illumina HiSeq	Phase_I	26384447	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712414	0.89112	.	.	ENSG00000123104	ENST00000381340	T	0.49720	0.77	5.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.69495	0.3117	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73369	-0.4004	10	0.87932	D	0	.	11.5193	0.50541	0.0:0.0:0.6263:0.3737	.	2647	Q14571	ITPR2_HUMAN	W	2647	ENSP00000370744:R2647W	ENSP00000370744:R2647W	R	-	1	2	ITPR2	26384447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.886000	0.56190	2.793000	0.96121	0.655000	0.94253	CGG		0.502	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26647092	26647092	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:26647092T>G	ENST00000381340.3	-	39	5780	c.5364A>C	c.(5362-5364)caA>caC	p.Q1788H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1788					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.Q1788H(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTACCTGTGTTTGTGTATTTC	0.353																																					p.Q1788H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5364C	12						.						80.0	71.0	74.0					12																	26647092		1849	4097	5946	26538359	SO:0001583	missense	3709	exon39			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5364A>C	12.37:g.26647092T>G	ENSP00000370744:p.Gln1788His	Somatic		Capture	Illumina HiSeq	Phase_I	26538359	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261398	0.59431	.	.	ENSG00000123104	ENST00000381340	D	0.90444	-2.67	4.53	-4.22	0.03800	.	0.120412	0.56097	D	0.000022	D	0.88190	0.6370	L	0.54323	1.7	0.80722	D	1	D	0.55172	0.97	P	0.56916	0.809	T	0.82438	-0.0457	10	0.45353	T	0.12	.	3.115	0.06371	0.1086:0.3442:0.1112:0.4361	.	1788	Q14571	ITPR2_HUMAN	H	1788	ENSP00000370744:Q1788H	ENSP00000370744:Q1788H	Q	-	3	2	ITPR2	26538359	0.931000	0.31567	0.976000	0.42696	0.992000	0.81027	-0.033000	0.12246	-0.512000	0.06505	0.482000	0.46254	CAA		0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ASUN	55726	broad.mit.edu	37	12	27059251	27059251	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27059251G>T	ENST00000261191.7	-	16	2601	c.2065C>A	c.(2065-2067)Ctt>Att	p.L689I	ASUN_ENST00000539625.1_Missense_Mutation_p.L588I	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	689					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L689I(1)									TCCTCTTTAAGATGTTGATAT	0.333																																					p.L689I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2065A	12						.						132.0	141.0	138.0					12																	27059251		2202	4299	6501	26950518	SO:0001583	missense	55726	exon16			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.2065C>A	12.37:g.27059251G>T	ENSP00000261191:p.Leu689Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26950518	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348678	0.82132	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	T;T;T	0.56103	0.48;0.48;0.48	5.35	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.914	T	0.73241	-0.4045	10	0.62326	D	0.03	-18.109	14.5551	0.68094	0.0709:0.0:0.9291:0.0	.	689;588	Q9NVM9;B4DNK1	M89BB_HUMAN;.	I	336;689;588;276	ENSP00000445645:L336I;ENSP00000261191:L689I;ENSP00000443724:L588I	ENSP00000261191:L689I	L	-	1	0	C12orf11	26950518	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.347000	0.97059	1.418000	0.47098	0.585000	0.79938	CTT		0.333	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
TM7SF3	51768	broad.mit.edu	37	12	27132837	27132837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27132837C>T	ENST00000343028.4	-	9	1294	c.1069G>A	c.(1069-1071)Gtc>Atc	p.V357I	TM7SF3_ENST00000542667.1_5'UTR|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	357						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V357I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATTCCACCGACGCTTCCAGTG	0.507																																					p.V357I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	12						.						144.0	111.0	122.0					12																	27132837		2203	4300	6503	27024104	SO:0001583	missense	51768	exon9			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1069G>A	12.37:g.27132837C>T	ENSP00000342322:p.Val357Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27024104	NM_016551	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680738	0.29872	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.30448	1.53	5.58	-11.2	0.00127	.	1.293240	0.05155	N	0.496706	T	0.11281	0.0275	N	0.10809	0.05	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.14144	-1.0483	10	0.06365	T	0.9	-0.1464	9.7779	0.40630	0.0701:0.1118:0.1397:0.6784	.	357	Q9NS93	TM7S3_HUMAN	I	357;71	ENSP00000342322:V357I	ENSP00000342322:V357I	V	-	1	0	TM7SF3	27024104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.470000	0.02346	-2.989000	0.00280	-0.880000	0.02959	GTC		0.507	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
STK38L	23012	broad.mit.edu	37	12	27461330	27461330	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27461330G>T	ENST00000389032.3	+	4	414	c.245G>T	c.(244-246)aGg>aTg	p.R82M	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.R82M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CGGCTCAAAAGGACCAGACTT	0.368																																					p.R82M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245T	12						.						103.0	109.0	107.0					12																	27461330		2203	4300	6503	27352597	SO:0001583	missense	23012	exon4			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.245G>T	12.37:g.27461330G>T	ENSP00000373684:p.Arg82Met	Somatic		Capture	Illumina HiSeq	Phase_I	27352597	NM_015000		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713458	0.89112	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T	0.68331	-0.32;0.85;-0.32;-0.32;-0.32	4.54	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.88720	0.3229	10	0.87932	D	0	.	17.29	0.87153	0.0:0.0:1.0:0.0	.	82	Q9Y2H1	ST38L_HUMAN	M	82	ENSP00000437856:R82M;ENSP00000373684:R82M;ENSP00000443838:R82M;ENSP00000442253:R82M;ENSP00000440279:R82M	ENSP00000373684:R82M	R	+	2	0	STK38L	27352597	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.399000	0.97285	2.257000	0.74773	0.460000	0.39030	AGG		0.368	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	
ARNTL2	56938	broad.mit.edu	37	12	27553456	27553456	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27553456C>A	ENST00000266503.5	+	10	937				ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000261178.5_Intron|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000395901.2_Intron			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2						circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTTTAAAAATCTTTGAATTAG	0.284																																					.												.	.	0			.	12						.						36.0	40.0	39.0					12																	27553456		2199	4299	6498	27444723	SO:0001627	intron_variant	56938	.			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.920-11C>A	12.37:g.27553456C>A		Somatic		Capture	Illumina HiSeq	Phase_I	27444723	.	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Intron	SNP	ENST00000266503.5	37	CCDS8712.1																																																																																				0.284	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
ARNTL2	56938	broad.mit.edu	37	12	27554510	27554510	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27554510G>T	ENST00000266503.5	+	12	1339	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y	ARNTL2_ENST00000311001.5_Missense_Mutation_p.D427Y|ARNTL2_ENST00000261178.5_Missense_Mutation_p.D393Y|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000544915.1_Missense_Mutation_p.D407Y|ARNTL2_ENST00000542388.1_Missense_Mutation_p.D356Y|ARNTL2_ENST00000546179.1_Missense_Mutation_p.D404Y|ARNTL2_ENST00000395901.2_Missense_Mutation_p.D404Y			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	441	PAC.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D441Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAGAGCAAAAGATGGCTCTTT	0.303																																					p.D441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321T	12						.						47.0	50.0	49.0					12																	27554510		2200	4293	6493	27445777	SO:0001583	missense	56938	exon12			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1321G>T	12.37:g.27554510G>T	ENSP00000266503:p.Asp441Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27445777	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.56|14.56	2.571914|2.571914	0.45798|0.45798	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	T;T;T;T;T;T;T|T	0.27890|0.21932	1.64;1.64;1.64;1.64;1.64;1.64;1.64|1.98	3.81|3.81	3.81|3.81	0.43845|0.43845	PAS fold-3 (1);PAS (1);|.	0.208952|.	0.42053|.	D|.	0.000762|.	T|T	0.36441|0.36441	0.0967|0.0967	L|L	0.55213|0.55213	1.73|1.73	0.43156|0.43156	D|D	0.994938|0.994938	P;P;P;P;B;P|.	0.37573|.	0.522;0.545;0.522;0.522;0.334;0.6|.	B;P;B;B;B;P|.	0.55785|.	0.411;0.533;0.411;0.411;0.143;0.784|.	T|T	0.33007|0.33007	-0.9885|-0.9885	10|7	0.66056|0.87932	D|D	0.02|0	.|.	16.2839|16.2839	0.82709|0.82709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	404;407;404;393;427;441|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	Y|N	407;404;404;427;393;441;356|392	ENSP00000442438:D407Y;ENSP00000379238:D404Y;ENSP00000438545:D404Y;ENSP00000312247:D427Y;ENSP00000261178:D393Y;ENSP00000266503:D441Y;ENSP00000445836:D356Y|ENSP00000400185:K392N	ENSP00000261178:D393Y|ENSP00000400185:K392N	D|K	+|+	1|3	0|2	ARNTL2|ARNTL2	27445777|27445777	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.988000|0.988000	0.76386|0.76386	1.560000|1.560000	0.36331|0.36331	2.150000|2.150000	0.67090|0.67090	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.303	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
REP15	387849	broad.mit.edu	37	12	27849545	27849545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:27849545T>C	ENST00000310791.2	+	1	118	c.50T>C	c.(49-51)gTg>gCg	p.V17A	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	17					receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	endosome membrane (GO:0010008)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)		p.V17A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					AGCAAAGAGGTGCCCGTCGTC	0.468																																					p.V17A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T50C	12						.						84.0	70.0	75.0					12																	27849545		2203	4300	6503	27740812	SO:0001583	missense	387849	exon1			BC140921	CCDS31762.1	12p11.22	2010-09-02			ENSG00000174236	ENSG00000174236			33748	protein-coding gene	gene with protein product		610848				16195351	Standard	NM_001029874		Approved	RAB15EP	uc001rig.1	Q6BDI9		ENST00000310791.2:c.50T>C	12.37:g.27849545T>C	ENSP00000310335:p.Val17Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27740812	NM_001029874	B2RU16	Missense_Mutation	SNP	ENST00000310791.2	37	CCDS31762.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313903	0.23908	.	.	ENSG00000174236	ENST00000310791	T	0.39229	1.09	4.66	-0.804	0.10882	.	0.778656	0.11096	N	0.600276	T	0.22666	0.0547	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20405	-1.0276	10	0.23891	T	0.37	-5.9393	1.0511	0.01580	0.1466:0.2685:0.1516:0.4333	.	17	Q6BDI9	REP15_HUMAN	A	17	ENSP00000310335:V17A	ENSP00000310335:V17A	V	+	2	0	REP15	27740812	0.014000	0.17966	0.013000	0.15412	0.065000	0.16274	0.437000	0.21543	-0.207000	0.10187	0.528000	0.53228	GTG		0.468	REP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402894.1	NM_001029874	
FAR2	55711	broad.mit.edu	37	12	29446413	29446413	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:29446413A>G	ENST00000536681.3	+	3	611				FAR2_ENST00000182377.4_Intron|FAR2_ENST00000547116.1_Intron|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTCAGGTACATTCCCATTTC	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						120.0	123.0	122.0					12																	29446413		2203	4300	6503	29337680	SO:0001627	intron_variant	55711	.			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.365+5A>G	12.37:g.29446413A>G		Somatic		Capture	Illumina HiSeq	Phase_I	29337680	.	F8VV73|Q9H0D5|Q9NVW8	Intron	SNP	ENST00000536681.3	37	CCDS8717.1																																																																																				0.383	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099	
OVCH1	341350	broad.mit.edu	37	12	29598316	29598316	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:29598316G>A	ENST00000318184.5	-	23	2775	c.2776C>T	c.(2776-2778)Ctt>Ttt	p.L926F	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	926	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L926F(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTGAGTAAAGTCTTCTTCCA	0.383																																					p.L926F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2776T	12						.						86.0	81.0	83.0					12																	29598316		1855	4096	5951	29489583	SO:0001583	missense	341350	exon23			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2776C>T	12.37:g.29598316G>A	ENSP00000326708:p.Leu926Phe	Somatic		Capture	Illumina HiSeq	Phase_I	29489583	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	5.456	0.269262	0.10349	.	.	ENSG00000187950	ENST00000318184	T	0.18174	2.23	2.31	-0.699	0.11277	CUB (5);	.	.	.	.	T	0.07818	0.0196	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.41963	-0.9479	9	0.13108	T	0.6	.	2.9517	0.05864	0.3031:0.2395:0.4574:0.0	.	926	Q7RTY7	OVCH1_HUMAN	F	926	ENSP00000326708:L926F	ENSP00000326708:L926F	L	-	1	0	OVCH1	29489583	0.011000	0.17503	0.001000	0.08648	0.002000	0.02628	1.136000	0.31467	-0.168000	0.10853	-0.300000	0.09419	CTT		0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
IPO8	10526	broad.mit.edu	37	12	30787093	30787093	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:30787093C>T	ENST00000256079.4	-	23	3161	c.2823G>A	c.(2821-2823)gcG>gcA	p.A941A	IPO8_ENST00000544829.1_Silent_p.A736A	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	941					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.A941A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACCCCTCAAGCGCGGTTTCTT	0.418																																					p.A736A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2208A	12						.						247.0	192.0	210.0					12																	30787093		2203	4300	6503	30678360	SO:0001819	synonymous_variant	10526	exon19			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2823G>A	12.37:g.30787093C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30678360	NM_001190995	B7Z7M3	Silent	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854438	0.17106	.	.	ENSG00000133704	ENST00000535598	.	.	.	5.22	0.132	0.14762	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	-7.8189	1.8236	0.03116	0.3986:0.1317:0.3402:0.1295	.	.	.	.	H	99	.	.	R	-	2	0	IPO8	30678360	0.897000	0.30589	0.984000	0.44739	0.729000	0.41735	-0.051000	0.11885	0.039000	0.15632	-0.147000	0.13772	CGC		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CAPRIN2	65981	broad.mit.edu	37	12	30876240	30876240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:30876240C>A	ENST00000395805.2	-	11	2543	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.E666*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.E666*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.E333*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.E666*	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E666*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGATTTTGTTCTTTAGATGCT	0.358																																					p.E666X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1996T	12						.						81.0	79.0	80.0					12																	30876240		2202	4300	6502	30767507	SO:0001587	stop_gained	65981	exon11			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1996G>T	12.37:g.30876240C>A	ENSP00000379150:p.Glu666*	Somatic		Capture	Illumina HiSeq	Phase_I	30767507	NM_001002259		Nonsense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045311	0.97231	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	.	.	.	4.48	4.48	0.54585	.	0.337202	0.31061	N	0.008336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.5614	15.8854	0.79244	0.0:1.0:0.0:0.0	.	.	.	.	X	412;666;666;666;333;666;392;585	.	ENSP00000251071:E666X	E	-	1	0	CAPRIN2	30767507	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.611000	0.61162	2.490000	0.84030	0.655000	0.94253	GAA		0.358	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
CAPRIN2	65981	broad.mit.edu	37	12	30886566	30886566	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:30886566T>C	ENST00000395805.2	-	5	1436	c.889A>G	c.(889-891)Aca>Gca	p.T297A	CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.T297A|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.T297A|CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.T297A	NM_001206856.1	NP_001193785.1			caprin family member 2									p.T297A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AACTCACATGTCGTTCCTACC	0.408																																					p.T297A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A889G	12						.						152.0	132.0	139.0					12																	30886566		2203	4300	6503	30777833	SO:0001583	missense	65981	exon5			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.889A>G	12.37:g.30886566T>C	ENSP00000379150:p.Thr297Ala	Somatic		Capture	Illumina HiSeq	Phase_I	30777833	NM_001002259		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318362	0.81469	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.36699	1.24;1.87;1.87;1.87;1.87;1.87	4.96	4.96	0.65561	.	0.056324	0.64402	D	0.000001	T	0.58308	0.2113	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.996;0.959;0.983;0.986	P;D;P;P;P	0.64687	0.874;0.928;0.556;0.876;0.799	T	0.64202	-0.6463	10	0.87932	D	0	.	14.7947	0.69868	0.0:0.0:0.0:1.0	.	297;297;297;297;297	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	A	43;297;297;297;297;23;216	ENSP00000415407:T43A;ENSP00000298892:T297A;ENSP00000379150:T297A;ENSP00000251071:T297A;ENSP00000391479:T297A;ENSP00000438010:T216A	ENSP00000251071:T297A	T	-	1	0	CAPRIN2	30777833	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.519000	0.60517	2.069000	0.61940	0.533000	0.62120	ACA		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
OVOS2	144203	broad.mit.edu	37	12	31267847	31267847	+	RNA	SNP	C	C	T	rs571934609		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:31267847C>T	ENST00000542490.1	-	0	680																		p.R1341H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						GGATTTATTGCGAATTCCAGT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		18908	0.001		0.0	False		,,,				2504	0.0				.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						11.0	10.0	11.0					12																	31267847		1708	3913	5621	31159114			0	.																															12.37:g.31267847C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31159114	.		IGR	SNP	ENST00000542490.1	37																																																																																					0.318	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1		
OVOS2	144203	broad.mit.edu	37	12	31289075	31289075	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:31289075G>A								RP11-551L14.1 (18670 upstream) : FAM60A (144442 downstream)														p.T749M(1)									TTGGGTTATCGTATCAGGAAT	0.423																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						35.0	36.0	36.0					12																	31289075		1999	4158	6157	31180342	SO:0001628	intergenic_variant	0	.																															12.37:g.31289075G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31180342	.		IGR	SNP		37																																																																																				0	0.423								
FAM60A	58516	broad.mit.edu	37	12	31446754	31446754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:31446754C>T	ENST00000337682.4	-	4	708	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.E114K|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	114					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)		p.E114K(1)		large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CGTTTAAATTCCTTCTGCAGT	0.363																																					p.E114K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	12						.						101.0	89.0	93.0					12																	31446754		2203	4300	6503	31338021	SO:0001583	missense	58516	exon5			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.340G>A	12.37:g.31446754C>T	ENSP00000337477:p.Glu114Lys	Somatic		Capture	Illumina HiSeq	Phase_I	31338021	NM_001135811	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791968	0.50102	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.83	4.83	0.62350	.	0.166426	0.56097	D	0.000022	T	0.32376	0.0827	N	0.26042	0.785	0.80722	D	1	B;B	0.28713	0.007;0.22	B;B	0.26416	0.007;0.069	T	0.11036	-1.0604	10	0.39692	T	0.17	-24.9925	16.4626	0.84069	0.0:1.0:0.0:0.0	.	114;155	Q9NP50;B7Z287	FA60A_HUMAN;.	K	114;114;155;114;114	ENSP00000337477:E114K;ENSP00000393279:E114K;ENSP00000443881:E114K;ENSP00000437363:E114K	ENSP00000337477:E114K	E	-	1	0	FAM60A	31338021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.061000	0.71148	2.389000	0.81357	0.561000	0.74099	GAA		0.363	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238	
DENND5B	160518	broad.mit.edu	37	12	31600698	31600698	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:31600698G>T	ENST00000389082.5	-	6	1899	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	DENND5B_ENST00000536562.1_Silent_p.S580S|DENND5B_ENST00000306833.6_Silent_p.S580S|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Silent_p.S567S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	545	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S545S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGACAGAAAGGAAGCCTGTA	0.368																																					p.S545S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1635A	12						.						39.0	40.0	40.0					12																	31600698		1886	4117	6003	31491965	SO:0001819	synonymous_variant	160518	exon6			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1635C>A	12.37:g.31600698G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31491965	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	CCDS44857.1																																																																																				0.368	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
H3F3C	440093	broad.mit.edu	37	12	31944834	31944834	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:31944834G>A	ENST00000340398.3	-	1	341	c.267C>T	c.(265-267)gtC>gtT	p.V89V		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	89					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.V89V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGCGCACCGACGGCTGCGC	0.577										HNSCC(67;0.2)																											p.V89V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	12						.						128.0	119.0	122.0					12																	31944834		2203	4300	6503	31836101	SO:0001819	synonymous_variant	440093	exon1			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.267C>T	12.37:g.31944834G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31836101	NM_001013699	E9P281	Silent	SNP	ENST00000340398.3	37	CCDS31769.1																																																																																				0.577	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699	
KIAA1551	55196	broad.mit.edu	37	12	32137217	32137217	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:32137217A>C	ENST00000312561.4	+	4	3742	c.3328A>C	c.(3328-3330)Agc>Cgc	p.S1110R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1110								p.S1110R(1)									TACAATATTAAGCTCAGAGCA	0.408																																					p.S1110R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3328C	12						.						58.0	60.0	60.0					12																	32137217		2203	4300	6503	32028484	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3328A>C	12.37:g.32137217A>C	ENSP00000310338:p.Ser1110Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32028484	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	10.58	1.391129	0.25118	.	.	ENSG00000174718	ENST00000312561	T	0.12147	2.71	5.37	4.23	0.50019	.	0.515419	0.20675	N	0.087765	T	0.13072	0.0317	L	0.40543	1.245	0.09310	N	1	P	0.43287	0.802	B	0.42495	0.389	T	0.09530	-1.0670	9	.	.	.	.	9.4743	0.38862	0.9187:0.0:0.0813:0.0	.	1110	Q9HCM1	CL035_HUMAN	R	1110	ENSP00000310338:S1110R	.	S	+	1	0	C12orf35	32028484	0.996000	0.38824	0.070000	0.20053	0.474000	0.32979	3.744000	0.55112	0.883000	0.36040	0.460000	0.39030	AGC		0.408	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1551	55196	broad.mit.edu	37	12	32140245	32140245	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:32140245G>A	ENST00000312561.4	+	5	5489	c.5075G>A	c.(5074-5076)aGc>aAc	p.S1692N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1692								p.S1692N(1)									CAGAAAGACAGCCAAGAGAGA	0.299																																					p.S1692N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5075A	12						.						70.0	71.0	71.0					12																	32140245		2203	4299	6502	32031512	SO:0001583	missense	55196	exon5			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5075G>A	12.37:g.32140245G>A	ENSP00000310338:p.Ser1692Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32031512	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	1.222	-0.626748	0.03610	.	.	ENSG00000174718	ENST00000312561	T	0.12984	2.63	4.86	-7.85	0.01192	.	1.793460	0.02323	N	0.073183	T	0.05181	0.0138	N	0.13043	0.29	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36286	-0.9754	10	0.02654	T	1	.	4.1983	0.10453	0.1981:0.0983:0.5625:0.1411	.	1692	Q9HCM1	CL035_HUMAN	N	1692	ENSP00000310338:S1692N	ENSP00000310338:S1692N	S	+	2	0	C12orf35	32031512	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	-0.547000	0.06055	-0.985000	0.03503	-0.502000	0.04539	AGC		0.299	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
DNM1L	10059	broad.mit.edu	37	12	32893155	32893155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:32893155C>T	ENST00000549701.1	+	17	1939	c.1865C>T	c.(1864-1866)gCc>gTc	p.A622V	DNM1L_ENST00000452533.2_Missense_Mutation_p.A596V|DNM1L_ENST00000414834.2_Missense_Mutation_p.A419V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A585V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A624V|DNM1L_ENST00000358214.5_Missense_Mutation_p.A598V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A635V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.A611V			O00429	DNM1L_HUMAN	dynamin 1-like	622	Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A622V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAGGTCATGCCGTGAACCTG	0.393																																					p.A622V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1865T	12						.						113.0	109.0	110.0					12																	32893155		2203	4300	6503	32784422	SO:0001583	missense	10059	exon17			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1865C>T	12.37:g.32893155C>T	ENSP00000450399:p.Ala622Val	Somatic		Capture	Illumina HiSeq	Phase_I	32784422	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778874	0.70107	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	D;D;D;D;D;D;T;D	0.90620	-2.68;-2.66;-2.67;-2.68;-2.68;-2.7;-1.32;-2.7	6.17	6.17	0.99709	.	0.224693	0.45606	D	0.000350	D	0.85336	0.5673	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.26577	0.153;0.021;0.021;0.02;0.005;0.001	B;B;B;B;B;B	0.22880	0.042;0.013;0.015;0.033;0.009;0.006	T	0.79286	-0.1866	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	419;649;675;677;638;622	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	V	596;677;635;622;598;585;611;419;624	ENSP00000415131:A596V;ENSP00000449089:A635V;ENSP00000450399:A622V;ENSP00000350948:A598V;ENSP00000266481:A585V;ENSP00000448610:A611V;ENSP00000404160:A419V;ENSP00000370388:A624V	ENSP00000266481:A585V	A	+	2	0	DNM1L	32784422	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.394000	0.66285	2.941000	0.99782	0.655000	0.94253	GCC		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
PKP2	5318	broad.mit.edu	37	12	32994125	32994125	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:32994125A>C	ENST00000070846.6	-	7	1549	c.1525T>G	c.(1525-1527)Ttg>Gtg	p.L509V	PKP2_ENST00000340811.4_Missense_Mutation_p.L465V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	509					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.L509V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTAGATGACAAATTCCACAGC	0.443																																					p.L509V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1525G	12						.						120.0	118.0	119.0					12																	32994125		2203	4300	6503	32885392	SO:0001583	missense	5318	exon7			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1525T>G	12.37:g.32994125A>C	ENSP00000070846:p.Leu509Val	Somatic		Capture	Illumina HiSeq	Phase_I	32885392	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241467	0.58995	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;T	0.82619	-1.63;-0.04	5.15	3.96	0.45880	Armadillo-like helical (1);Armadillo-type fold (1);	0.131075	0.47455	D	0.000230	D	0.90755	0.7098	M	0.86953	2.85	0.47476	D	0.999432	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.90272	0.4308	10	0.87932	D	0	.	9.1432	0.36917	0.7938:0.0:0.2062:0.0	.	465;465;509	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	465;509;509	ENSP00000342800:L465V;ENSP00000070846:L509V	ENSP00000070846:L509V	L	-	1	2	PKP2	32885392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.697000	0.37784	0.757000	0.33036	0.455000	0.32223	TTG		0.443	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
SYT10	341359	broad.mit.edu	37	12	33579261	33579261	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:33579261A>T	ENST00000228567.3	-	2	617	c.321T>A	c.(319-321)gtT>gtA	p.V107V	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	107					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.V107V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGTCTCAAAAACTTCAGTAG	0.428																																					p.V107V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T321A	12						.						97.0	98.0	98.0					12																	33579261		2203	4300	6503	33470528	SO:0001819	synonymous_variant	341359	exon2			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.321T>A	12.37:g.33579261A>T		Somatic		Capture	Illumina HiSeq	Phase_I	33470528	NM_198992	Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																				0.428	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
ALG10B	144245	broad.mit.edu	37	12	38714293	38714293	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:38714293C>A	ENST00000308742.4	+	3	1016	c.700C>A	c.(700-702)Ctt>Att	p.L234I	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	234					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.L234I(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAGAAAAATTCTTCAGTTTCT	0.373																																					p.L234I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C700A	12						.						92.0	102.0	99.0					12																	38714293		2199	4294	6493	37000560	SO:0001583	missense	144245	exon3			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.700C>A	12.37:g.38714293C>A	ENSP00000310120:p.Leu234Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37000560	NM_001013620	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	2.278	-0.365384	0.05069	.	.	ENSG00000175548	ENST00000308742	T	0.56444	0.46	3.23	1.37	0.22104	.	0.315231	0.32343	N	0.006239	T	0.33206	0.0855	L	0.31804	0.96	0.09310	N	1	B	0.21688	0.059	B	0.24974	0.057	T	0.11108	-1.0601	10	0.30854	T	0.27	.	3.5876	0.07977	0.0:0.5504:0.2123:0.2373	.	234	Q5I7T1	AG10B_HUMAN	I	234	ENSP00000310120:L234I	ENSP00000310120:L234I	L	+	1	0	ALG10B	37000560	0.000000	0.05858	0.005000	0.12908	0.318000	0.28184	-0.636000	0.05465	0.380000	0.24823	-0.148000	0.13756	CTT		0.373	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
CPNE8	144402	broad.mit.edu	37	12	39047733	39047733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:39047733G>A	ENST00000331366.5	-	20	1742	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	CPNE8_ENST00000360449.3_Missense_Mutation_p.A537V|CPNE8_ENST00000538596.2_Missense_Mutation_p.A218V|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	549						extracellular vesicular exosome (GO:0070062)		p.A549V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGGGGGAGGCGCAGGTGATGG	0.458																																					p.A549V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1646T	12						.						103.0	97.0	99.0					12																	39047733		2203	4300	6503	37334000	SO:0001583	missense	144402	exon20			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1646C>T	12.37:g.39047733G>A	ENSP00000329748:p.Ala549Val	Somatic		Capture	Illumina HiSeq	Phase_I	37334000	NM_153634	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566406	0.27915	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25414	1.8;1.93;1.82	4.82	3.87	0.44632	.	0.063243	0.64402	D	0.000009	T	0.15262	0.0368	L	0.32530	0.975	0.58432	D	0.999993	P	0.48089	0.905	B	0.31495	0.131	T	0.09751	-1.0660	10	0.25751	T	0.34	-16.6626	14.6872	0.69057	0.0:0.1458:0.8542:0.0	.	549	Q86YQ8	CPNE8_HUMAN	V	549;218;537	ENSP00000329748:A549V;ENSP00000439237:A218V;ENSP00000353633:A537V	ENSP00000329748:A549V	A	-	2	0	CPNE8	37334000	0.998000	0.40836	0.204000	0.23530	0.541000	0.35023	4.492000	0.60334	2.372000	0.80975	0.655000	0.94253	GCG		0.458	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
CPNE8	144402	broad.mit.edu	37	12	39124077	39124077	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:39124077C>T	ENST00000331366.5	-	11	895				CPNE8_ENST00000360449.3_Intron	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)		p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAATAAAATGCCTCTTACCTC	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						87.0	88.0	88.0					12																	39124077		2202	4298	6500	37410344	SO:0001627	intron_variant	144402	.			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.798+7G>A	12.37:g.39124077C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37410344	.	Q2TB41|Q86VY2	Intron	SNP	ENST00000331366.5	37	CCDS8733.1																																																																																				0.313	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
KIF21A	55605	broad.mit.edu	37	12	39764070	39764070	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:39764070G>T	ENST00000361418.5	-	2	60				KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000395670.3_Intron|KIF21A_ENST00000361961.3_Intron|KIF21A_ENST00000544797.2_Intron			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTCTGTGAGAAATAATCAG	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						66.0	67.0	67.0					12																	39764070		2201	4297	6498	38050337	SO:0001627	intron_variant	55605	.			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.45-7C>A	12.37:g.39764070G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38050337	.	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Intron	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																				0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	broad.mit.edu	37	12	40012548	40012548	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:40012548G>A	ENST00000308666.3	-	1	1005	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	290	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.G290G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACCGCAAATAGCCTTTTCTAT	0.418																																					p.G290G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	12						.						122.0	118.0	120.0					12																	40012548		2203	4300	6503	38298815	SO:0001819	synonymous_variant	225	exon1			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.870C>T	12.37:g.40012548G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38298815	NM_005164	B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	CCDS8734.1																																																																																				0.418	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
LRRK2	120892	broad.mit.edu	37	12	40699634	40699634	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:40699634C>A	ENST00000298910.7	+	28	3883	c.3825C>A	c.(3823-3825)gtC>gtA	p.V1275V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.V1275V(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCTGGATGTCAGTTACAACT	0.383																																					p.V1275V												.	.	4	Substitution - coding silent(4)	ovary(2)|large_intestine(2)	c.C3825A	12						.						90.0	88.0	89.0					12																	40699634		2203	4300	6503	38985901	SO:0001819	synonymous_variant	120892	exon28			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3825C>A	12.37:g.40699634C>A		Somatic		Capture	Illumina HiSeq	Phase_I	38985901	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40707879	40707879	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:40707879A>C	ENST00000298910.7	+	32	4700	c.4642A>C	c.(4642-4644)Att>Ctt	p.I1548L	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1548					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.I1548L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTTCCCGTAATTGACCGGAA	0.378																																					p.I1548L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4642C	12						.						82.0	77.0	79.0					12																	40707879		2203	4299	6502	38994146	SO:0001583	missense	120892	exon32			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4642A>C	12.37:g.40707879A>C	ENSP00000298910:p.Ile1548Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38994146	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487321	0.26686	.	.	ENSG00000188906	ENST00000298910	T	0.67523	-0.27	5.83	5.83	0.93111	.	0.059147	0.64402	D	0.000002	T	0.44477	0.1295	N	0.05383	-0.06	0.46185	D	0.998919	B;B	0.21225	0.025;0.053	B;B	0.18561	0.021;0.022	T	0.45848	-0.9233	10	0.05959	T	0.93	.	16.1894	0.81975	1.0:0.0:0.0:0.0	.	1548;1548	Q17RV3;Q5S007	.;LRRK2_HUMAN	L	1548	ENSP00000298910:I1548L	ENSP00000298910:I1548L	I	+	1	0	LRRK2	38994146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.109000	0.57824	2.222000	0.72286	0.477000	0.44152	ATT		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40749927	40749927	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:40749927A>C	ENST00000298910.7	+	46	6839	c.6781A>C	c.(6781-6783)Aat>Cat	p.N2261H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2261			N -> I (in dbSNP:rs12581902). {ECO:0000269|PubMed:16172858}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.N2261H(1)|p.N2268H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAAACAAAAAAATTTTCTTTT	0.284																																					p.N2261H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6781C	12						.						49.0	48.0	48.0					12																	40749927		2202	4295	6497	39036194	SO:0001583	missense	120892	exon46			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6781A>C	12.37:g.40749927A>C	ENSP00000298910:p.Asn2261His	Somatic		Capture	Illumina HiSeq	Phase_I	39036194	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807398	0.31961	.	.	ENSG00000188906	ENST00000298910	T	0.38077	1.16	5.96	1.98	0.26296	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.368511	0.36200	N	0.002727	T	0.20577	0.0495	N	0.16307	0.4	0.26565	N	0.973665	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.15263	-1.0443	10	0.46703	T	0.11	.	8.7584	0.34658	0.5006:0.3781:0.0:0.1213	.	2261;2261	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	2261	ENSP00000298910:N2261H	ENSP00000298910:N2261H	N	+	1	0	LRRK2	39036194	1.000000	0.71417	0.935000	0.37517	0.995000	0.86356	2.781000	0.47750	0.452000	0.26830	0.533000	0.62120	AAT		0.284	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40757365	40757365	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:40757365T>C	ENST00000298910.7	+	48	7239					NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.?(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGTAAATTCTGTGGTTTTTA	0.343																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						79.0	81.0	80.0					12																	40757365		2203	4300	6503	39043632	SO:0001627	intron_variant	120892	.			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7181+9T>C	12.37:g.40757365T>C		Somatic		Capture	Illumina HiSeq	Phase_I	39043632	.	A6NJU2|Q6ZS50|Q8NCX9	Intron	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41312458	41312458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41312458G>T	ENST00000551295.2	+	4	229	c.112G>T	c.(112-114)Gga>Tga	p.G38*	CNTN1_ENST00000547702.1_Nonsense_Mutation_p.G38*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.G38*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.G27*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.G38*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.G38*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	38					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G38*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAAGACAAAGGATTTGGACC	0.358																																					p.G38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G112T	12						.						68.0	74.0	72.0					12																	41312458		2203	4300	6503	39598725	SO:0001587	stop_gained	1272	exon4			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.112G>T	12.37:g.41312458G>T	ENSP00000447006:p.Gly38*	Somatic		Capture	Illumina HiSeq	Phase_I	39598725	NM_001843	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891228	0.91889	.	.	ENSG00000018236	ENST00000547702;ENST00000551424;ENST00000551295;ENST00000548005;ENST00000552248;ENST00000547849;ENST00000552913;ENST00000347616;ENST00000360099;ENST00000348761	.	.	.	5.36	5.36	0.76844	.	0.055575	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	12.7873	0.57514	0.0752:0.0:0.9248:0.0	.	.	.	.	X	38;38;38;38;38;38;38;38;38;27	.	ENSP00000325660:G38X	G	+	1	0	CNTN1	39598725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.792000	0.69052	2.682000	0.91365	0.585000	0.79938	GGA		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
CNTN1	1272	broad.mit.edu	37	12	41318465	41318465	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41318465T>C	ENST00000551295.2	+	6	613				CNTN1_ENST00000547702.1_Intron|CNTN1_ENST00000360099.3_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000547849.1_Intron|CNTN1_ENST00000347616.1_Intron	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTAAACTTAATTCCTCTCTGA	0.363																																					.												.	.	0			.	12						.						97.0	81.0	86.0					12																	41318465		2202	4300	6502	39604732	SO:0001627	intron_variant	1272	.			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.496+11T>C	12.37:g.41318465T>C		Somatic		Capture	Illumina HiSeq	Phase_I	39604732	.	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Intron	SNP	ENST00000551295.2	37	CCDS8737.1																																																																																				0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
CNTN1	1272	broad.mit.edu	37	12	41408099	41408099	+	Splice_Site	SNP	C	C	T	rs201782849		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41408099C>T	ENST00000551295.2	+	18	2300	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V	CNTN1_ENST00000348761.2_Splice_Site_p.A717V|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Splice_Site_p.A728V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A728V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAACATGGGCGGTAAGTATT	0.388																																					p.A728V												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C2183T	12						.						153.0	137.0	143.0					12																	41408099		2203	4300	6503	39694366	SO:0001630	splice_region_variant	1272	exon18			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2184+1C>T	12.37:g.41408099C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39694366	NM_001843	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344981	0.41498	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57273	0.41;0.41;0.41	5.45	3.56	0.40772	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372699	0.30969	N	0.008508	T	0.23532	0.0569	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.09185	-1.0686	10	0.48119	T	0.1	.	2.6163	0.04905	0.2205:0.4885:0.0:0.291	.	717;728	Q12860-2;Q12860	.;CNTN1_HUMAN	V	728;728;717	ENSP00000447006:A728V;ENSP00000325660:A728V;ENSP00000261160:A717V	ENSP00000325660:A728V	A	+	2	0	CNTN1	39694366	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	2.795000	0.47861	1.560000	0.49568	0.655000	0.94253	GCG		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation
CNTN1	1272	broad.mit.edu	37	12	41410583	41410583	+	Missense_Mutation	SNP	C	C	T	rs566695601		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41410583C>T	ENST00000551295.2	+	19	2401	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	CNTN1_ENST00000348761.2_Missense_Mutation_p.P751S|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.P762S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	762	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P762S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTTACTAATCCTGATACTGG	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19518	0.0		0.0	False		,,,				2504	0.0				p.P762S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2284T	12						.						128.0	111.0	117.0					12																	41410583		2203	4300	6503	39696850	SO:0001583	missense	1272	exon19			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2284C>T	12.37:g.41410583C>T	ENSP00000447006:p.Pro762Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39696850	NM_001843	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548129	0.65311	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55588	0.51;0.51;0.51	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053392	0.85682	D	0.000000	T	0.67711	0.2922	M	0.66506	2.035	0.80722	D	1	D;D	0.60575	0.984;0.988	P;P	0.60541	0.804;0.876	T	0.59710	-0.7403	10	0.17832	T	0.49	.	19.9544	0.97215	0.0:1.0:0.0:0.0	.	751;762	Q12860-2;Q12860	.;CNTN1_HUMAN	S	762;762;751	ENSP00000447006:P762S;ENSP00000325660:P762S;ENSP00000261160:P751S	ENSP00000325660:P762S	P	+	1	0	CNTN1	39696850	1.000000	0.71417	0.982000	0.44146	0.854000	0.48673	3.688000	0.54699	2.885000	0.99019	0.655000	0.94253	CCT		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
PDZRN4	29951	broad.mit.edu	37	12	41831759	41831759	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41831759T>G	ENST00000402685.2	+	4	851				PDZRN4_ENST00000539469.2_Missense_Mutation_p.L5V|PDZRN4_ENST00000298919.7_5'UTR|RP11-413B19.2_ENST00000547168.1_RNA	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4								ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L5V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGGCTGCAATTTGTGCACTTT	0.453																																					p.L5V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13G	12						.						190.0	193.0	192.0					12																	41831759		2203	4300	6503	40118026	SO:0001627	intron_variant	29951	exon1			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.844-68499T>G	12.37:g.41831759T>G		Somatic		Capture	Illumina HiSeq	Phase_I	40118026	NM_013377	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423046	0.25639	.	.	ENSG00000165966	ENST00000539469	T	0.04234	3.67	4.96	2.63	0.31362	.	0.779516	0.10959	N	0.615145	T	0.02494	0.0076	N	0.04018	-0.295	0.80722	D	1	B	0.22983	0.078	B	0.22386	0.039	T	0.46076	-0.9217	10	0.46703	T	0.11	.	4.9394	0.13958	0.0:0.401:0.0:0.599	.	5	Q6ZMN7-2	.	V	5	ENSP00000439990:L5V	ENSP00000439990:L5V	L	+	1	2	PDZRN4	40118026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.914000	0.48797	0.968000	0.38212	0.533000	0.62120	TTG		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PDZRN4	29951	broad.mit.edu	37	12	41966269	41966269	+	Missense_Mutation	SNP	G	G	A	rs369918672		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41966269G>A	ENST00000402685.2	+	10	1696	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R305Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R303Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	563							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R305Q(1)|p.R563Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAGCTTGCGAAATGATGAG	0.493																																					p.R563Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1688A	12						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	108.0	92.0	98.0		1688,914	5.1	0.3	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	563/1037,305/779	41966269	1,13005	2203	4300	6503	40252536	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1688G>A	12.37:g.41966269G>A	ENSP00000384197:p.Arg563Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40252536	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281037	0.80692	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.78816	-1.21;3.36;3.35	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	D	0.87676	0.6237	M	0.74647	2.275	0.80722	D	1	D;D;D	0.64830	0.984;0.994;0.994	B;D;D	0.65874	0.286;0.939;0.939	D	0.88735	0.3239	10	0.87932	D	0	-21.2102	19.3018	0.94146	0.0:0.0:1.0:0.0	.	563;303;305	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	563;305;303	ENSP00000384197:R563Q;ENSP00000439990:R305Q;ENSP00000298919:R303Q	ENSP00000298919:R303Q	R	+	2	0	PDZRN4	40252536	0.992000	0.36948	0.260000	0.24451	0.779000	0.44077	6.597000	0.74118	2.731000	0.93534	0.650000	0.86243	CGA		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PDZRN4	29951	broad.mit.edu	37	12	41966490	41966490	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:41966490A>G	ENST00000402685.2	+	10	1917	c.1909A>G	c.(1909-1911)Att>Gtt	p.I637V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I379V|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I377V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	637							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I637V(1)|p.I379V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAAATGCAAGATTCGAAATCA	0.458																																					p.I637V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1909G	12						.						101.0	97.0	99.0					12																	41966490		2203	4300	6503	40252757	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1909A>G	12.37:g.41966490A>G	ENSP00000384197:p.Ile637Val	Somatic		Capture	Illumina HiSeq	Phase_I	40252757	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	6.789	0.514579	0.12944	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71817	-0.6;3.88;3.87	4.49	3.3	0.37823	.	0.076465	0.52532	D	0.000077	T	0.51466	0.1676	L	0.34521	1.04	0.80722	D	1	P;B;B	0.39116	0.66;0.001;0.001	B;B;B	0.35312	0.2;0.02;0.011	T	0.49960	-0.8883	10	0.06365	T	0.9	-17.1706	10.6224	0.45487	0.9211:0.0:0.0789:0.0	.	637;377;379	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	V	637;379;377	ENSP00000384197:I637V;ENSP00000439990:I379V;ENSP00000298919:I377V	ENSP00000298919:I377V	I	+	1	0	PDZRN4	40252757	1.000000	0.71417	0.944000	0.38274	0.993000	0.82548	3.712000	0.54875	0.805000	0.34159	0.528000	0.53228	ATT		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
GXYLT1	283464	broad.mit.edu	37	12	42512841	42512841	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:42512841A>G	ENST00000398675.3	-	3	679	c.447T>C	c.(445-447)atT>atC	p.I149I	GXYLT1_ENST00000280876.6_Silent_p.I118I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	149					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.I149I(1)|p.I118I(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTCAGCAAAAATATGGAATT	0.348																																					p.I118I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T354C	12						.						79.0	73.0	75.0					12																	42512841		1885	4107	5992	40799108	SO:0001819	synonymous_variant	283464	exon2			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.447T>C	12.37:g.42512841A>G		Somatic		Capture	Illumina HiSeq	Phase_I	40799108	NM_001099650	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																				0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597	
ZCRB1	85437	broad.mit.edu	37	12	42711706	42711706	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:42711706A>C	ENST00000266529.3	-	4	297				PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TAACCCTTAAAGCATAAACAA	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						53.0	58.0	56.0					12																	42711706		2201	4297	6498	40997973	SO:0001627	intron_variant	51535	.			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.114-6T>G	12.37:g.42711706A>C		Somatic		Capture	Illumina HiSeq	Phase_I	40997973	.	Q6PJX0|Q96TA6	Intron	SNP	ENST00000266529.3	37	CCDS8740.1																																																																																				0.289	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114	
PRICKLE1	144165	broad.mit.edu	37	12	42854042	42854042	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:42854042G>T	ENST00000455697.1	-	8	2350	c.2065C>A	c.(2065-2067)Ctt>Att	p.L689I	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L689I|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L689I|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L689I|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L689I	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	689					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L689I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCTGTAACAAGATTCAGGGCA	0.498																																					p.L689I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2065A	12						.						63.0	64.0	64.0					12																	42854042		2203	4300	6503	41140309	SO:0001583	missense	144165	exon8			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2065C>A	12.37:g.42854042G>T	ENSP00000401060:p.Leu689Ile	Somatic		Capture	Illumina HiSeq	Phase_I	41140309	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771398	0.31320	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	M	0.75264	2.295	0.20074	N	0.999937	P	0.39282	0.666	B	0.28139	0.086	T	0.81579	-0.0868	10	0.87932	D	0	-18.0475	10.9351	0.47241	0.114:0.0:0.886:0.0	.	689	Q96MT3	PRIC1_HUMAN	I	689	ENSP00000401060:L689I;ENSP00000398947:L689I;ENSP00000448359:L689I;ENSP00000345064:L689I;ENSP00000449819:L689I	ENSP00000345064:L689I	L	-	1	0	PRICKLE1	41140309	1.000000	0.71417	0.431000	0.26735	0.993000	0.82548	2.105000	0.41825	2.759000	0.94783	0.650000	0.86243	CTT		0.498	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
PRICKLE1	144165	broad.mit.edu	37	12	42858326	42858326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:42858326G>T	ENST00000455697.1	-	7	1795	c.1510C>A	c.(1510-1512)Cat>Aat	p.H504N	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.H504N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.H504N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.H504N|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.H504N|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	504					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.H504N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGCCCCATGGTCCAGTTCC	0.502																																					p.H504N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1510A	12						.						77.0	73.0	74.0					12																	42858326		2203	4300	6503	41144593	SO:0001583	missense	144165	exon7			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1510C>A	12.37:g.42858326G>T	ENSP00000401060:p.His504Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41144593	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437255	0.62955	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.76	5.76	0.90799	.	0.042572	0.85682	D	0.000000	T	0.40498	0.1119	N	0.08118	0	0.80722	D	1	P	0.44734	0.842	B	0.36922	0.236	T	0.48547	-0.9026	10	0.52906	T	0.07	-23.2131	20.3277	0.98707	0.0:0.0:1.0:0.0	.	504	Q96MT3	PRIC1_HUMAN	N	504	ENSP00000401060:H504N;ENSP00000398947:H504N;ENSP00000448359:H504N;ENSP00000345064:H504N;ENSP00000449819:H504N	ENSP00000345064:H504N	H	-	1	0	PRICKLE1	41144593	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.420000	0.97426	2.879000	0.98667	0.650000	0.86243	CAT		0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
PRICKLE1	144165	broad.mit.edu	37	12	42863287	42863287	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:42863287G>T	ENST00000455697.1	-	4	634	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L117M|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L117M|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L117M|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L117M	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	117	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L117M(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCTGGACAGAAGCTTAATT	0.522																																					p.L117M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349A	12						.						198.0	163.0	175.0					12																	42863287		2203	4300	6503	41149554	SO:0001583	missense	144165	exon4			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.349C>A	12.37:g.42863287G>T	ENSP00000401060:p.Leu117Met	Somatic		Capture	Illumina HiSeq	Phase_I	41149554	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469645	0.63625	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.41	-3.73	0.04398	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	M	0.85373	2.75	0.44018	D	0.996734	D	0.69078	0.997	D	0.75484	0.986	D	0.91656	0.5338	10	0.56958	D	0.05	-18.3357	15.5448	0.76090	0.2686:0.0:0.7314:0.0	.	117	Q96MT3	PRIC1_HUMAN	M	117	ENSP00000401060:L117M;ENSP00000398947:L117M;ENSP00000448359:L117M;ENSP00000345064:L117M;ENSP00000449819:L117M;ENSP00000447870:L117M;ENSP00000446970:L117M	ENSP00000345064:L117M	L	-	1	2	PRICKLE1	41149554	0.451000	0.25705	0.025000	0.17156	0.978000	0.69477	0.895000	0.28363	-0.460000	0.07003	-0.345000	0.07892	CTG		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
ADAMTS20	80070	broad.mit.edu	37	12	43833743	43833743	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:43833743C>A	ENST00000389420.3	-	17	2419	c.2420G>T	c.(2419-2421)aGa>aTa	p.R807I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R807I|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	807	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R807I(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATTAATTCTTTCAACTGC	0.294																																					p.R807I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2420T	12						.						93.0	85.0	88.0					12																	43833743		2201	4297	6498	42120010	SO:0001583	missense	80070	exon17			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2420G>T	12.37:g.43833743C>A	ENSP00000374071:p.Arg807Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42120010	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	31	5.087076	0.94100	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.53857	0.6;0.6	5.28	5.28	0.74379	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000032	T	0.79581	0.4470	M	0.92649	3.33	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.84022	0.0354	10	0.87932	D	0	.	19.8163	0.96569	0.0:1.0:0.0:0.0	.	807	P59510	ATS20_HUMAN	I	807	ENSP00000374071:R807I;ENSP00000448341:R807I	ENSP00000374068:R807I	R	-	2	0	ADAMTS20	42120010	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.445000	0.80570	2.861000	0.98227	0.650000	0.86243	AGA		0.294	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	broad.mit.edu	37	12	43858495	43858495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:43858495C>A	ENST00000389420.3	-	10	1407	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E470*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	470	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E470*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTATATATTTCTTCATCTGGT	0.398																																					p.E470X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1408T	12						.						92.0	85.0	87.0					12																	43858495		2203	4300	6503	42144762	SO:0001587	stop_gained	80070	exon10			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1408G>T	12.37:g.43858495C>A	ENSP00000374071:p.Glu470*	Somatic		Capture	Illumina HiSeq	Phase_I	42144762	NM_025003	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230534	0.58777	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.75	3.61	0.41365	.	0.229752	0.30185	N	0.010219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.2035	0.37275	0.0:0.1613:0.0:0.8387	.	.	.	.	X	470	.	ENSP00000374068:E470X	E	-	1	0	ADAMTS20	42144762	1.000000	0.71417	0.436000	0.26797	0.011000	0.07611	3.882000	0.56160	0.916000	0.36871	-0.469000	0.05056	GAA		0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	broad.mit.edu	37	12	43884226	43884226	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:43884226A>G	ENST00000389420.3	-	7	1088	c.1089T>C	c.(1087-1089)tgT>tgC	p.C363C	ADAMTS20_ENST00000553158.1_Silent_p.C363C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	363	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C363C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTAGATGAACAAATGTCTT	0.234																																					p.C363C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1089C	12						.						17.0	20.0	19.0					12																	43884226		2135	4204	6339	42170493	SO:0001819	synonymous_variant	80070	exon7			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1089T>C	12.37:g.43884226A>G		Somatic		Capture	Illumina HiSeq	Phase_I	42170493	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.234	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	broad.mit.edu	37	12	44139877	44139877	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:44139877C>A	ENST00000416848.2	-	4	1723	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	PUS7L_ENST00000344862.5_Missense_Mutation_p.R412I|PUS7L_ENST00000551923.1_Missense_Mutation_p.R412I|PUS7L_ENST00000431332.3_Missense_Mutation_p.R99I	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	412					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R412I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCATAATTCTCTCCCTCAG	0.343																																					p.R412I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235T	12						.						42.0	41.0	41.0					12																	44139877		2203	4294	6497	42426144	SO:0001583	missense	83448	exon4			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1235G>T	12.37:g.44139877C>A	ENSP00000415899:p.Arg412Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42426144	NM_001098614	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453101	0.43531	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.45	4.45	0.53987	Pseudouridine synthase, catalytic domain (1);	0.144057	0.52532	D	0.000068	T	0.40791	0.1131	L	0.43152	1.355	0.58432	D	0.999999	P	0.40731	0.728	B	0.42771	0.397	T	0.16188	-1.0411	10	0.20519	T	0.43	-23.2489	17.9913	0.89170	0.0:1.0:0.0:0.0	.	412	Q9H0K6	PUS7L_HUMAN	I	412;412;412;99;99;99	ENSP00000415899:R412I;ENSP00000343081:R412I;ENSP00000447706:R412I;ENSP00000398497:R99I;ENSP00000449222:R99I;ENSP00000450341:R99I	ENSP00000343081:R412I	R	-	2	0	PUS7L	42426144	1.000000	0.71417	0.984000	0.44739	0.497000	0.33675	5.091000	0.64505	2.386000	0.81285	0.563000	0.77884	AGA		0.343	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
PUS7L	83448	broad.mit.edu	37	12	44142353	44142353	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:44142353T>C	ENST00000416848.2	-	3	1458	c.970A>G	c.(970-972)Aaa>Gaa	p.K324E	PUS7L_ENST00000553166.1_Missense_Mutation_p.K324E|PUS7L_ENST00000344862.5_Missense_Mutation_p.K324E|PUS7L_ENST00000551923.1_Missense_Mutation_p.K324E|PUS7L_ENST00000431332.3_Missense_Mutation_p.K11E	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	324					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.K324E(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACACCAAGTTTGATAGCTAAA	0.363																																					p.K324E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A970G	12						.						109.0	107.0	108.0					12																	44142353		2202	4300	6502	42428620	SO:0001583	missense	83448	exon3			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.970A>G	12.37:g.44142353T>C	ENSP00000415899:p.Lys324Glu	Somatic		Capture	Illumina HiSeq	Phase_I	42428620	NM_001098614	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	5.006	0.186750	0.09547	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156;ENST00000553166	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.96	1.17	0.20885	Pseudouridine synthase, catalytic domain (1);	0.455855	0.25475	N	0.030407	T	0.10981	0.0268	L	0.35723	1.085	0.27133	N	0.961852	B	0.09022	0.002	B	0.12156	0.007	T	0.37820	-0.9689	10	0.02654	T	1	-17.4358	5.1109	0.14809	0.0:0.1319:0.377:0.4912	.	324	Q9H0K6	PUS7L_HUMAN	E	324;324;324;11;11;11;324	ENSP00000415899:K324E;ENSP00000343081:K324E;ENSP00000447706:K324E;ENSP00000398497:K11E;ENSP00000449222:K11E;ENSP00000450341:K11E;ENSP00000446865:K324E	ENSP00000343081:K324E	K	-	1	0	PUS7L	42428620	1.000000	0.71417	0.631000	0.29282	0.998000	0.95712	1.178000	0.31981	0.361000	0.24292	0.460000	0.39030	AAA		0.363	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
TWF1	5756	broad.mit.edu	37	12	44191184	44191184	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:44191184C>A	ENST00000395510.2	-	7	810	c.681G>T	c.(679-681)aaG>aaT	p.K227N	TWF1_ENST00000552521.1_Missense_Mutation_p.K129N|TWF1_ENST00000548315.1_Missense_Mutation_p.K234N|TWF1_ENST00000325127.4_Missense_Mutation_p.K261N	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	227	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.K227N(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGGGAATCCTCTTTGGCAAAT	0.308																																					p.K261N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G783T	12						.						74.0	78.0	77.0					12																	44191184		2202	4288	6490	42477451	SO:0001583	missense	5756	exon7			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.681G>T	12.37:g.44191184C>A	ENSP00000378886:p.Lys227Asn	Somatic		Capture	Illumina HiSeq	Phase_I	42477451	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319685	0.23994	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.55	5.42	3.32	0.38043	Actin-binding, cofilin/tropomyosin type (3);	0.224293	0.52532	D	0.000078	T	0.27419	0.0673	L	0.49513	1.565	0.58432	D	0.999997	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.006	T	0.13442	-1.0509	10	0.32370	T	0.25	-16.8383	5.4826	0.16731	0.0:0.6341:0.2158:0.1501	.	234;227	Q12792-3;Q12792	.;TWF1_HUMAN	N	129;227;261;234;265	ENSP00000448750:K129N;ENSP00000378886:K227N;ENSP00000321058:K261N;ENSP00000449428:K234N;ENSP00000448221:K265N	ENSP00000321058:K261N	K	-	3	2	TWF1	42477451	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.508000	0.22692	2.553000	0.86117	0.591000	0.81541	AAG		0.308	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
TMEM117	84216	broad.mit.edu	37	12	44693440	44693440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:44693440G>A	ENST00000266534.3	+	6	813	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	TMEM117_ENST00000536799.1_Missense_Mutation_p.R125Q|TMEM117_ENST00000551577.1_Missense_Mutation_p.R229Q	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	229						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R229L(2)|p.R229Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAGCTGAATCGGGGATTTTTG	0.433																																					p.R229Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G686A	12						.						283.0	260.0	268.0					12																	44693440		2203	4300	6503	42979707	SO:0001583	missense	84216	exon6			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.686G>A	12.37:g.44693440G>A	ENSP00000266534:p.Arg229Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42979707	NM_032256		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677440	0.88445	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.57107	0.42;0.42;0.42	5.21	5.21	0.72293	.	0.055442	0.64402	D	0.000001	T	0.68210	0.2976	L	0.59436	1.845	0.44500	D	0.99744	D;D;D	0.71674	0.996;0.998;0.998	P;P;P	0.61874	0.572;0.895;0.792	T	0.69518	-0.5124	10	0.56958	D	0.05	-18.1465	19.1164	0.93343	0.0:0.0:1.0:0.0	.	229;125;229	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	Q	229;229;125	ENSP00000448595:R229Q;ENSP00000266534:R229Q;ENSP00000445243:R125Q	ENSP00000266534:R229Q	R	+	2	0	TMEM117	42979707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.744000	0.85034	2.588000	0.87417	0.591000	0.81541	CGG		0.433	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
NELL2	4753	broad.mit.edu	37	12	45170890	45170890	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:45170890C>A	ENST00000429094.2	-	7	1201	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	NELL2_ENST00000333837.4_Missense_Mutation_p.D256Y|NELL2_ENST00000547172.1_5'Flank|NELL2_ENST00000452445.2_Missense_Mutation_p.D233Y|NELL2_ENST00000395487.2_Missense_Mutation_p.D232Y|NELL2_ENST00000549027.1_Missense_Mutation_p.D232Y|NELL2_ENST00000437801.2_Missense_Mutation_p.D283Y|NELL2_ENST00000551601.1_Missense_Mutation_p.D232Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	233						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D233Y(1)|p.D283Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGGAAGTCATTGCAAGTT	0.383																																					p.D233Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G697T	12						.						141.0	135.0	137.0					12																	45170890		2203	4300	6503	43457157	SO:0001583	missense	4753	exon7			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.697G>T	12.37:g.45170890C>A	ENSP00000390680:p.Asp233Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43457157	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452399	0.84209	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	D;D;T;D;D;D;D;T;T	0.82893	-1.61;-1.59;-1.3;-1.59;-1.61;-1.55;-1.66;1.51;2.54	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.986;0.972;0.995;0.937;0.986	D	0.91807	0.5456	10	0.56958	D	0.05	-23.6231	19.6568	0.95845	0.0:1.0:0.0:0.0	.	256;283;232;233;233;232	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	Y	232;233;232;233;232;256;283;232;6;233	ENSP00000378866:D232Y;ENSP00000390680:D233Y;ENSP00000449332:D232Y;ENSP00000394612:D233Y;ENSP00000447927:D232Y;ENSP00000327988:D256Y;ENSP00000416341:D283Y;ENSP00000450102:D6Y;ENSP00000447085:D233Y	ENSP00000327988:D256Y	D	-	1	0	NELL2	43457157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.656000	0.90262	0.650000	0.86243	GAC		0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
NELL2	4753	broad.mit.edu	37	12	45173675	45173675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:45173675C>T	ENST00000429094.2	-	4	970	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	NELL2_ENST00000333837.4_Missense_Mutation_p.A179T|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.A156T|NELL2_ENST00000395487.2_Missense_Mutation_p.A155T|NELL2_ENST00000549027.1_Missense_Mutation_p.A155T|NELL2_ENST00000437801.2_Missense_Mutation_p.A206T|NELL2_ENST00000551601.1_Missense_Mutation_p.A155T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	156	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A156T(1)|p.A206T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCACTGATGGCTAAGGAGAGC	0.428																																					p.A156T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G466A	12						.						152.0	135.0	141.0					12																	45173675		2203	4300	6503	43459942	SO:0001583	missense	4753	exon4			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.466G>A	12.37:g.45173675C>T	ENSP00000390680:p.Ala156Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43459942	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489792	0.44249	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	L	0.43757	1.38	0.80722	D	1	P;P;D;P;D;P	0.60160	0.775;0.605;0.984;0.728;0.987;0.605	B;B;P;B;P;B	0.61328	0.333;0.31;0.82;0.324;0.887;0.31	T	0.73078	-0.4096	10	0.13108	T	0.6	-16.8185	19.4004	0.94627	0.0:1.0:0.0:0.0	.	179;206;155;156;156;155	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	T	155;156;155;156;155;179;206;155;156;153	ENSP00000378866:A155T;ENSP00000390680:A156T;ENSP00000449332:A155T;ENSP00000394612:A156T;ENSP00000447927:A155T;ENSP00000327988:A179T;ENSP00000416341:A206T;ENSP00000447085:A156T;ENSP00000447384:A153T	ENSP00000327988:A179T	A	-	1	0	NELL2	43459942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.781000	0.55394	2.577000	0.86979	0.655000	0.94253	GCC		0.428	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
PLEKHA8P1	51054	broad.mit.edu	37	12	45567648	45567648	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:45567648G>T	ENST00000256692.5	-	0	1037					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.D167E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAAGTTATTGTCATGATTTT	0.388																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						159.0	153.0	155.0					12																	45567648		2203	4300	6503	43853915			51054	.			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567648G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43853915	.		Missense_Mutation	SNP	ENST00000256692.5	37																																																																																					0.388	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
ANO6	196527	broad.mit.edu	37	12	45761564	45761564	+	Silent	SNP	C	C	T	rs61745715	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:45761564C>T	ENST00000320560.8	+	9	1294	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	ANO6_ENST00000423947.3_Silent_p.C385C|ANO6_ENST00000435642.1_Silent_p.C364C|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.C346C|ANO6_ENST00000425752.2_Silent_p.C364C	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	364					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.C364C(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATTACTTGCGAGTCCTCAA	0.313																																					p.C346C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1038T	12						.						135.0	121.0	126.0					12																	45761564		2203	4300	6503	44047831	SO:0001819	synonymous_variant	196527	exon9			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1092C>T	12.37:g.45761564C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44047831	NM_001142678	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	CCDS31782.1																																																																																				0.313	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46230691C>T	ENST00000334344.6	+	8	1112	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_ENST00000422737.1_Missense_Mutation_p.R165C|ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	314					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R314S(1)|p.R314C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398			"""N, S, F"""		hepatocellular carcinoma																																p.R314C			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C940T	12						.						182.0	169.0	174.0					12																	46230691		2203	4300	6503	44516958	SO:0001583	missense	196528	exon8				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.940C>T	12.37:g.46230691C>T	ENSP00000335044:p.Arg314Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44516958	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804588	0.90623	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.49720	0.77;0.77	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	10	0.87932	D	0	-9.2705	20.2009	0.98259	0.0:1.0:0.0:0.0	.	314	Q68CP9	ARID2_HUMAN	C	314;165	ENSP00000335044:R314C;ENSP00000415650:R165C	ENSP00000335044:R314C	R	+	1	0	ARID2	44516958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.937000	0.70162	2.767000	0.95098	0.591000	0.81541	CGT		0.398	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
SCAF11	9169	broad.mit.edu	37	12	46316915	46316915	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46316915A>G	ENST00000369367.3	-	13	4162	c.3929T>C	c.(3928-3930)gTa>gCa	p.V1310A	SCAF11_ENST00000465950.1_Missense_Mutation_p.V995A|SCAF11_ENST00000419565.2_Missense_Mutation_p.V1310A|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.V1118A	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1310					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V1310A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTATTACTTACATGAGAAGA	0.388																																					p.V1310A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3929C	12						.						97.0	94.0	95.0					12																	46316915		2203	4300	6503	44603182	SO:0001583	missense	9169	exon13			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3929T>C	12.37:g.46316915A>G	ENSP00000358374:p.Val1310Ala	Somatic		Capture	Illumina HiSeq	Phase_I	44603182	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703145	0.68501	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.17	5.01	0.66863	.	0.197974	0.35291	N	0.003315	T	0.55862	0.1947	L	0.50333	1.59	0.32433	N	0.547766	D	0.55605	0.972	P	0.49799	0.622	T	0.67499	-0.5655	10	0.52906	T	0.07	-7.862	13.626	0.62165	0.8708:0.1292:0.0:0.0	.	1310	Q99590	SCAFB_HUMAN	A	995;1310;1118;1310	ENSP00000449812:V995A;ENSP00000358374:V1310A;ENSP00000448864:V1118A;ENSP00000413036:V1310A	ENSP00000358374:V1310A	V	-	2	0	SCAF11	44603182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.707000	0.61852	1.116000	0.41820	0.533000	0.62120	GTA		0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SCAF11	9169	broad.mit.edu	37	12	46320233	46320233	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46320233C>A	ENST00000369367.3	-	11	3484	c.3251G>T	c.(3250-3252)aGa>aTa	p.R1084I	SCAF11_ENST00000465950.1_Missense_Mutation_p.R769I|SCAF11_ENST00000419565.2_Missense_Mutation_p.R1084I|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.R892I	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1084					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1084I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAAACTACTTCTGTAAGTGCC	0.408																																					p.R1084I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3251T	12						.						64.0	68.0	67.0					12																	46320233		2203	4300	6503	44606500	SO:0001583	missense	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3251G>T	12.37:g.46320233C>A	ENSP00000358374:p.Arg1084Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44606500	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198872	0.79015	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.91	5.03	0.67393	.	0.225328	0.38164	N	0.001789	T	0.68952	0.3057	L	0.59436	1.845	0.53005	D	0.999969	D;D	0.89917	0.98;1.0	P;D	0.83275	0.804;0.996	T	0.71076	-0.4697	10	0.54805	T	0.06	-4.4341	15.3627	0.74492	0.0:0.9331:0.0:0.0669	.	892;1084	F8VXG7;Q99590	.;SCAFB_HUMAN	I	769;1084;892;1084	ENSP00000449812:R769I;ENSP00000358374:R1084I;ENSP00000448864:R892I;ENSP00000413036:R1084I	ENSP00000358374:R1084I	R	-	2	0	SCAF11	44606500	1.000000	0.71417	0.946000	0.38457	0.986000	0.74619	5.243000	0.65395	1.518000	0.48934	0.655000	0.94253	AGA		0.408	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SCAF11	9169	broad.mit.edu	37	12	46320405	46320405	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46320405T>G	ENST00000369367.3	-	11	3312	c.3079A>C	c.(3079-3081)Aaa>Caa	p.K1027Q	SCAF11_ENST00000465950.1_Missense_Mutation_p.K712Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.K1027Q|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.K835Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1027					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K1027Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GAGTTTATTTTTTCTGTTATC	0.338																																					p.K1027Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3079C	12						.						120.0	126.0	124.0					12																	46320405		2203	4300	6503	44606672	SO:0001583	missense	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3079A>C	12.37:g.46320405T>G	ENSP00000358374:p.Lys1027Gln	Somatic		Capture	Illumina HiSeq	Phase_I	44606672	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931873	0.52866	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.38887	1.12;1.85;1.11;1.85	5.81	5.81	0.92471	.	0.425336	0.24611	N	0.037048	T	0.52484	0.1737	L	0.47716	1.5	0.29013	N	0.886746	D;P	0.63046	0.992;0.905	P;P	0.58873	0.847;0.447	T	0.52734	-0.8536	10	0.48119	T	0.1	-20.0856	13.2068	0.59803	0.0:0.0:0.1323:0.8677	.	835;1027	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	712;1027;835;1027	ENSP00000449812:K712Q;ENSP00000358374:K1027Q;ENSP00000448864:K835Q;ENSP00000413036:K1027Q	ENSP00000358374:K1027Q	K	-	1	0	SCAF11	44606672	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.158000	0.64917	2.208000	0.71279	0.533000	0.62120	AAA		0.338	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SCAF11	9169	broad.mit.edu	37	12	46320627	46320627	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46320627A>G	ENST00000369367.3	-	11	3090	c.2857T>C	c.(2857-2859)Tca>Cca	p.S953P	SCAF11_ENST00000465950.1_Missense_Mutation_p.S638P|SCAF11_ENST00000419565.2_Missense_Mutation_p.S953P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.S761P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	953	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S953P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTACCAAATGATGAACTCTTA	0.458																																					p.S953P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2857C	12						.						165.0	161.0	162.0					12																	46320627		2203	4300	6503	44606894	SO:0001583	missense	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2857T>C	12.37:g.46320627A>G	ENSP00000358374:p.Ser953Pro	Somatic		Capture	Illumina HiSeq	Phase_I	44606894	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763823	0.31228	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.66099	0.71;1.43;0.71;1.43;-0.19	6.17	5.01	0.66863	.	0.415279	0.23332	N	0.049335	T	0.75042	0.3796	M	0.64997	1.995	0.22081	N	0.999372	D;D	0.76494	0.996;0.999	D;D	0.83275	0.925;0.996	T	0.67248	-0.5718	10	0.56958	D	0.05	-0.5427	11.5106	0.50490	0.8664:0.0:0.0:0.1336	.	761;953	F8VXG7;Q99590	.;SCAFB_HUMAN	P	638;953;761;953;893	ENSP00000449812:S638P;ENSP00000358374:S953P;ENSP00000448864:S761P;ENSP00000413036:S953P;ENSP00000446746:S893P	ENSP00000358374:S953P	S	-	1	0	SCAF11	44606894	0.996000	0.38824	0.734000	0.30879	0.091000	0.18340	4.510000	0.60455	1.113000	0.41760	0.533000	0.62120	TCA		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SCAF11	9169	broad.mit.edu	37	12	46320828	46320828	+	Nonsense_Mutation	SNP	C	C	A	rs142445862		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:46320828C>A	ENST00000369367.3	-	11	2889	c.2656G>T	c.(2656-2658)Gaa>Taa	p.E886*	SCAF11_ENST00000465950.1_Nonsense_Mutation_p.E571*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.E886*|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.E694*	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	886	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E886*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTAGAAGTTTCTCTTCTTGGG	0.438																																					p.E886X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2656T	12						.						128.0	130.0	129.0					12																	46320828		2203	4300	6503	44607095	SO:0001587	stop_gained	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2656G>T	12.37:g.46320828C>A	ENSP00000358374:p.Glu886*	Somatic		Capture	Illumina HiSeq	Phase_I	44607095	NM_004719	A6NEU9|A6NLW5|Q8IW59	Nonsense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	42	9.728365	0.99249	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	.	.	.	5.93	5.93	0.95920	.	0.090675	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.661	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	571;886;694;886;826	.	ENSP00000358374:E886X	E	-	1	0	SCAF11	44607095	1.000000	0.71417	0.990000	0.47175	0.873000	0.50193	4.375000	0.59549	2.826000	0.97356	0.655000	0.94253	GAA		0.438	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SLC38A4	55089	broad.mit.edu	37	12	47178416	47178416	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:47178416C>T	ENST00000447411.1	-	6	608	c.402G>A	c.(400-402)ggG>ggA	p.G134G	SLC38A4_ENST00000266579.4_Splice_Site_p.G134G	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	134					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.G134G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAATCAAAGACCCTACAATCA	0.328																																					p.G134G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G402A	12						.						68.0	67.0	67.0					12																	47178416		2203	4300	6503	45464683	SO:0001630	splice_region_variant	55089	exon6			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.401-1G>A	12.37:g.47178416C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45464683	NM_001143824	A8K553	Silent	SNP	ENST00000447411.1	37	CCDS8750.1																																																																																				0.328	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		Silent
SLC48A1	55652	broad.mit.edu	37	12	48174350	48174350	+	3'UTR	SNP	T	T	C	rs372654277|rs77244617		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:48174350T>C	ENST00000442218.2	+	0	824				SLC48A1_ENST00000442892.2_Intron	NM_017842.2	NP_060312.2	Q6P1K1	HRG1_HUMAN	solute carrier family 48 (heme transporter), member 1						heme transport (GO:0015886)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	heme transporter activity (GO:0015232)			large_intestine(1)|lung(3)|urinary_tract(1)	5						cttttttttttcttttttttt	0.453																																					.												.	.	0			.	12						.						21.0	24.0	23.0					12																	48174350		2202	4300	6502	46460617	SO:0001624	3_prime_UTR_variant	55652	.				CCDS8755.2	12q13.11	2013-05-22			ENSG00000211584	ENSG00000211584		"""Solute carriers"""	26035	protein-coding gene	gene with protein product		612187				18418376	Standard	NM_017842		Approved	FLJ20489, hHRG-1, HRG1	uc001rqd.3	Q6P1K1	OTTHUMG00000156983	ENST00000442218.2:c.*286T>C	12.37:g.48174350T>C		Germline		Capture	Illumina HiSeq	Phase_I	46460617	.	Q9BUB3|Q9NX17	Silent	SNP	ENST00000442218.2	37	CCDS8755.2																																																																																				0.453	SLC48A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346966.1	NM_017842	
OR8S1	341568	broad.mit.edu	37	12	48919710	48919710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:48919710C>T	ENST00000310194.1	+	1	296	c.296C>T	c.(295-297)gCt>gTt	p.A99V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGCTGCCTGGCTCAGGTCTTC	0.517																																					p.A99V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C296T	12						.						98.0	95.0	96.0					12																	48919710		2203	4300	6503	47205977	SO:0001583	missense	341568	exon1				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.296C>T	12.37:g.48919710C>T	ENSP00000310632:p.Ala99Val	Somatic		Capture	Illumina HiSeq	Phase_I	47205977	NM_001005203		Missense_Mutation	SNP	ENST00000310194.1	37	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564850	0.27915	.	.	ENSG00000197376	ENST00000310194	T	0.00940	5.52	5.03	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	1.531070	0.04140	N	0.319481	T	0.01627	0.0052	L	0.52823	1.66	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.51068	-0.8752	10	0.30078	T	0.28	-0.2556	8.4211	0.32700	0.0:0.6577:0.0:0.3423	.	99	Q8NH09	OR8S1_HUMAN	V	99	ENSP00000310632:A99V	ENSP00000310632:A99V	A	+	2	0	OR8S1	47205977	0.000000	0.05858	0.688000	0.30117	0.892000	0.51952	-0.431000	0.06965	0.306000	0.22856	0.655000	0.94253	GCT		0.517	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
KANSL2	54934	broad.mit.edu	37	12	49054256	49054256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49054256C>T	ENST00000420613.2	-	8	1167	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	KANSL2_ENST00000550347.1_Missense_Mutation_p.E557K|KANSL2_ENST00000553086.1_Missense_Mutation_p.E374K|KANSL2_ENST00000548701.1_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	374					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.E374K(2)									AGTACCTGCTCGGGCTTATAC	0.537																																					p.E374K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1120A	12						.						48.0	49.0	49.0					12																	49054256		1880	4116	5996	47340523	SO:0001583	missense	54934	exon8			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1120G>A	12.37:g.49054256C>T	ENSP00000415436:p.Glu374Lys	Somatic		Capture	Illumina HiSeq	Phase_I	47340523	NM_017822	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077601	0.76528	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	T;T;T;T	0.37411	1.2;1.28;1.41;1.41	5.53	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.51422	1.61	0.80722	D	1	D;P;D;D	0.89917	0.998;0.751;0.958;1.0	P;B;B;D	0.83275	0.807;0.06;0.4;0.996	T	0.42137	-0.9469	10	0.46703	T	0.11	-6.9798	10.3395	0.43868	0.0:0.7892:0.1356:0.0752	.	557;374;179;374	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8	.;CL041_HUMAN;.;.	K	557;374;122;374	ENSP00000449747:E557K;ENSP00000415436:E374K;ENSP00000447608:E122K;ENSP00000448833:E374K	ENSP00000415436:E374K	E	-	1	0	C12orf41	47340523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.134000	0.77268	0.666000	0.31087	0.460000	0.39030	GAG		0.537	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	
KANSL2	54934	broad.mit.edu	37	12	49072889	49072889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49072889C>T	ENST00000420613.2	-	4	522	c.475G>A	c.(475-477)Gat>Aat	p.D159N	KANSL2_ENST00000550347.1_Missense_Mutation_p.D342N|KANSL2_ENST00000553086.1_Missense_Mutation_p.D159N|KANSL2_ENST00000357861.3_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	159					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.D159N(2)									CATGTCTGATCCACAGTAATG	0.483																																					p.D159N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G475A	12						.						102.0	99.0	100.0					12																	49072889		2030	4202	6232	47359156	SO:0001583	missense	54934	exon4			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.475G>A	12.37:g.49072889C>T	ENSP00000415436:p.Asp159Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47359156	NM_017822	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905226	0.72868	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.87	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	L	0.40543	1.245	0.80722	D	1	D;P	0.56521	0.976;0.595	P;B	0.54060	0.741;0.123	T	0.76809	-0.2822	10	0.49607	T	0.09	-16.1074	14.133	0.65268	0.0:0.9265:0.0:0.0735	.	342;159	F8VX10;Q9H9L4	.;CL041_HUMAN	N	342;159;159;96	ENSP00000449747:D342N;ENSP00000415436:D159N;ENSP00000448833:D159N;ENSP00000448129:D96N	ENSP00000415436:D159N	D	-	1	0	C12orf41	47359156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	1.477000	0.48234	0.563000	0.77884	GAT		0.483	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	
CCNT1	904	broad.mit.edu	37	12	49087826	49087826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49087826C>A	ENST00000261900.3	-	9	1393	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	391					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.E391*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCGCGGTATTCTTTCAGTGAC	0.448																																					p.E391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1171T	12						.						241.0	245.0	244.0					12																	49087826		2203	4300	6503	47374093	SO:0001587	stop_gained	904	exon9			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1171G>T	12.37:g.49087826C>A	ENSP00000261900:p.Glu391*	Somatic		Capture	Illumina HiSeq	Phase_I	47374093	NM_001240	A9XU13|E7EX76|O60581	Nonsense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341726	0.97489	.	.	ENSG00000129315	ENST00000261900	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.7216	18.0305	0.89282	0.0:1.0:0.0:0.0	.	.	.	.	X	391	.	ENSP00000261900:E391X	E	-	1	0	CCNT1	47374093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.824000	0.62701	2.634000	0.89283	0.561000	0.74099	GAA		0.448	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240	
CACNB3	784	broad.mit.edu	37	12	49217593	49217593	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49217593G>A	ENST00000301050.2	+	3	490				CACNB3_ENST00000550168.1_Intron|CACNB3_ENST00000540990.1_Intron|CACNB3_ENST00000536187.2_Intron|CACNB3_ENST00000547230.1_Intron|CACNB3_ENST00000547392.1_Intron	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit						axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGAGGTGATCGACCCCCCTAC	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						77.0	77.0	77.0					12																	49217593		2203	4300	6503	47503860	SO:0001627	intron_variant	784	.				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.291+7G>A	12.37:g.49217593G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47503860	.	A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Intron	SNP	ENST00000301050.2	37	CCDS8769.1																																																																																				0.478	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
CACNB3	784	broad.mit.edu	37	12	49220150	49220150	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49220150C>T	ENST00000301050.2	+	10	942	c.743C>T	c.(742-744)gCg>gTg	p.A248V	CACNB3_ENST00000540990.1_Splice_Site_p.A235V|CACNB3_ENST00000536187.2_Splice_Site_p.A247V|CACNB3_ENST00000547230.1_Splice_Site_p.A207V|CACNB3_ENST00000547392.1_Splice_Site_p.A221V	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	248					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A248V(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCCATAGCGGAAGTGCAG	0.582																																					p.A248V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	12						.						67.0	59.0	62.0					12																	49220150		2203	4300	6503	47506417	SO:0001630	splice_region_variant	784	exon10				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.743-1C>T	12.37:g.49220150C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47506417	NM_000725	A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482573	0.84747	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547818;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.73	5.73	0.89815	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.46885	1.475	0.80722	D	1	D;B;D;B	0.89917	1.0;0.083;1.0;0.101	D;B;D;B	0.77004	0.961;0.006;0.989;0.01	T	0.61840	-0.6980	10	0.49607	T	0.09	.	18.6592	0.91467	0.0:1.0:0.0:0.0	.	247;235;248;235	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	V	235;247;72;221;248;207	ENSP00000445495:A235V;ENSP00000444160:A247V;ENSP00000448137:A72V;ENSP00000446529:A221V;ENSP00000301050:A248V;ENSP00000448304:A207V	ENSP00000301050:A248V	A	+	2	0	CACNB3	47506417	1.000000	0.71417	0.981000	0.43875	0.986000	0.74619	7.775000	0.85489	2.700000	0.92200	0.563000	0.77884	GCG		0.582	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		Missense_Mutation
WNT10B	7480	broad.mit.edu	37	12	49360090	49360090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49360090G>A	ENST00000301061.4	-	5	1306	c.958C>T	c.(958-960)Cga>Tga	p.R320*	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	320					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R320G(1)|p.R320*(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGGGTCTCGCTCACAGAAG	0.632																																					p.R320X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|prostate(1)	c.C958T	12						.						37.0	43.0	41.0					12																	49360090		2203	4300	6503	47646357	SO:0001587	stop_gained	7480	exon5			X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.958C>T	12.37:g.49360090G>A	ENSP00000301061:p.Arg320*	Somatic		Capture	Illumina HiSeq	Phase_I	47646357	NM_003394	B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Nonsense_Mutation	SNP	ENST00000301061.4	37	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733131	0.97796	.	.	ENSG00000169884	ENST00000301061	.	.	.	4.43	2.55	0.30701	.	0.167445	0.38837	N	0.001546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2219	0.15373	0.1683:0.0:0.651:0.1807	.	.	.	.	X	320	.	ENSP00000301061:R320X	R	-	1	2	WNT10B	47646357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.152000	0.50677	1.212000	0.43366	0.561000	0.74099	CGA		0.632	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394	
KMT2D	8085	broad.mit.edu	37	12	49442545	49442545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49442545T>C	ENST00000301067.7	-	13	4027	c.4028A>G	c.(4027-4029)gAc>gGc	p.D1343G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1343					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D1343G(1)|p.D1070G(1)									GCTATCAATGTCAGCAACCTG	0.473																																					p.D1343G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4028G	12						.						171.0	168.0	169.0					12																	49442545		2024	4174	6198	47728812	SO:0001583	missense	8085	exon13			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4028A>G	12.37:g.49442545T>C	ENSP00000301067:p.Asp1343Gly	Somatic		Capture	Illumina HiSeq	Phase_I	47728812	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.862024	0.32884	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	5.92	5.92	0.95590	Zinc finger, FYVE/PHD-type (1);	0.000000	0.36665	N	0.002479	T	0.79028	0.4377	N	0.14661	0.345	0.35195	D	0.773707	D	0.67145	0.996	P	0.57620	0.824	D	0.86154	0.1589	10	0.87932	D	0	.	15.3419	0.74303	0.0:0.0:0.0:1.0	.	1343	O14686	MLL2_HUMAN	G	1343	ENSP00000301067:D1343G	ENSP00000301067:D1343G	D	-	2	0	MLL2	47728812	0.978000	0.34361	1.000000	0.80357	0.797000	0.45037	2.619000	0.46401	2.267000	0.75376	0.383000	0.25322	GAC		0.473	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
RHEBL1	121268	broad.mit.edu	37	12	49460826	49460826	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49460826G>T	ENST00000301068.6	-	3	364					NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1						GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.?(1)		breast(2)|large_intestine(2)|lung(5)	9						AAGCTGAAAAGAAAAGAAAAC	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						85.0	70.0	75.0					12																	49460826		2203	4300	6503	47747093	SO:0001627	intron_variant	121268	.			AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.125-8C>A	12.37:g.49460826G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47747093	.	Q56VH8	Intron	SNP	ENST00000301068.6	37	CCDS8778.1																																																																																				0.413	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408969.1	NM_144593	
DNAJC22	79962	broad.mit.edu	37	12	49743130	49743130	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49743130G>A	ENST00000549441.2	+	3	1679	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	DNAJC22_ENST00000395069.3_Missense_Mutation_p.A159T			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	159						integral component of membrane (GO:0016021)		p.A159T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TAGCGTGGCCGCCAGCATTAC	0.542																																					p.A159T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G475A	12						.						74.0	71.0	72.0					12																	49743130		2203	4300	6503	48029397	SO:0001583	missense	79962	exon2			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.475G>A	12.37:g.49743130G>A	ENSP00000446830:p.Ala159Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48029397	NM_024902	B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054599	0.36277	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.51071	0.72;0.72	4.86	4.86	0.63082	.	0.050801	0.85682	D	0.000000	T	0.43567	0.1253	M	0.62723	1.935	0.50039	D	0.999848	D	0.58620	0.983	B	0.40285	0.325	T	0.49011	-0.8983	10	0.49607	T	0.09	-12.7698	11.451	0.50154	0.089:0.0:0.911:0.0	.	159	Q8N4W6	DJC22_HUMAN	T	159	ENSP00000446830:A159T;ENSP00000378508:A159T	ENSP00000378508:A159T	A	+	1	0	DNAJC22	48029397	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.002000	0.76304	2.394000	0.81467	0.555000	0.69702	GCC		0.542	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902	
MCRS1	10445	broad.mit.edu	37	12	49952722	49952722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49952722G>T	ENST00000550165.1	-	15	1472	c.1206C>A	c.(1204-1206)ttC>ttA	p.F402L	MCRS1_ENST00000546244.1_Missense_Mutation_p.F211L|MCRS1_ENST00000343810.4_Missense_Mutation_p.F402L|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.F415L			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	402	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F415L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGGCAATGAAGAAATCACCGT	0.542																																					p.F415L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1245A	12						.						91.0	82.0	85.0					12																	49952722		2203	4300	6503	48238989	SO:0001583	missense	10445	exon13			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1206C>A	12.37:g.49952722G>T	ENSP00000448056:p.Phe402Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48238989	NM_001012300	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114821	0.77210	.	.	ENSG00000187778	ENST00000551598;ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.27	3.41	0.39046	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.70716	0.939;0.97	D	0.94401	0.7623	10	0.72032	D	0.01	-26.3721	9.9389	0.41567	0.1695:0.0:0.8305:0.0	.	402;415	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	L	111;211;402;402;415	ENSP00000448947:F111L;ENSP00000444982:F211L;ENSP00000345358:F402L;ENSP00000448056:F402L;ENSP00000349640:F415L	ENSP00000345358:F402L	F	-	3	2	MCRS1	48238989	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.411000	0.59781	1.454000	0.47793	0.650000	0.86243	TTC		0.542	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337	
FAM186B	84070	broad.mit.edu	37	12	49993730	49993730	+	Nonsense_Mutation	SNP	G	G	A	rs200005083		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:49993730G>A	ENST00000257894.2	-	4	1854	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000544141.1_Nonsense_Mutation_p.R475*|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	565						protein complex (GO:0043234)		p.R565*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCCTCCATCGACTGGTGGGT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18250	0.0		0.001	False		,,,				2504	0.0				p.R565X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1693T	12						.						97.0	85.0	89.0					12																	49993730		2203	4300	6503	48279997	SO:0001587	stop_gained	84070	exon4			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1693C>T	12.37:g.49993730G>A	ENSP00000257894:p.Arg565*	Somatic		Capture	Illumina HiSeq	Phase_I	48279997	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Nonsense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	39	7.692728	0.98438	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	.	.	.	4.46	0.476	0.16779	.	1.477390	0.04530	N	0.386108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0787	3.6858	0.08327	0.3091:0.188:0.5029:0.0	.	.	.	.	X	475;178;565	.	.	R	-	1	2	FAM186B	48279997	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.453000	0.21811	0.214000	0.20742	0.655000	0.94253	CGA		0.592	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130	
PRPF40B	25766	broad.mit.edu	37	12	50037088	50037088	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:50037088G>A	ENST00000380281.1	+	22	2289	c.2225G>A	c.(2224-2226)gGc>gAc	p.G742D	PRPF40B_ENST00000261897.1_Missense_Mutation_p.G729D|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G763D			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	742					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.G742D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCAGAGTCAGGCTCTGAGCCC	0.612																																					p.G742D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2225A	12						.						78.0	84.0	82.0					12																	50037088		2203	4300	6503	48323355	SO:0001583	missense	25766	exon22			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2225G>A	12.37:g.50037088G>A	ENSP00000369634:p.Gly742Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48323355	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	G	18.55	3.648046	0.67358	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.21543	2.0;2.0	5.28	5.28	0.74379	.	0.077915	0.52532	N	0.000068	T	0.34366	0.0895	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.64321	0.841;0.924;0.924	T	0.02150	-1.1205	10	0.10377	T	0.69	-6.237	18.0417	0.89321	0.0:0.0:1.0:0.0	.	742;729;741	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	729;742	ENSP00000261897:G729D;ENSP00000369634:G742D	ENSP00000261897:G729D	G	+	2	0	PRPF40B	48323355	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.870000	0.56070	2.649000	0.89929	0.561000	0.74099	GGC		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
FMNL3	91010	broad.mit.edu	37	12	50052231	50052231	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:50052231A>C	ENST00000293590.5	-	6	832	c.599T>G	c.(598-600)gTg>gGg	p.V200G	FMNL3_ENST00000335154.5_Missense_Mutation_p.V200G|FMNL3_ENST00000550488.1_Missense_Mutation_p.V200G|FMNL3_ENST00000352151.5_Intron			Q8IVF7	FMNL3_HUMAN	formin-like 3	200	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.V200G(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATACCGGAGCACAGACTGGCG	0.637																																					p.V200G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T599G	12						.						51.0	58.0	56.0					12																	50052231		2153	4245	6398	48338498	SO:0001583	missense	91010	exon6			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.599T>G	12.37:g.50052231A>C	ENSP00000293590:p.Val200Gly	Somatic		Capture	Illumina HiSeq	Phase_I	48338498	NM_175736	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	A	14.30	2.494930	0.44352	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000293590	T;T;T	0.80738	-1.41;-1.41;-1.41	4.98	3.83	0.44106	.	0.068138	0.56097	D	0.000023	T	0.72676	0.3490	L	0.51422	1.61	0.80722	D	1	B	0.21606	0.058	B	0.22601	0.04	T	0.71020	-0.4713	10	0.49607	T	0.09	.	7.3424	0.26644	0.8386:0.0:0.1614:0.0	.	200	Q8IVF7-3	.	G	200	ENSP00000335655:V200G;ENSP00000447479:V200G;ENSP00000293590:V200G	ENSP00000293590:V200G	V	-	2	0	FMNL3	48338498	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.405000	0.44548	2.028000	0.59812	0.383000	0.25322	GTG		0.637	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
RACGAP1	29127	broad.mit.edu	37	12	50399155	50399155	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:50399155A>G	ENST00000427314.2	-	6	532	c.309T>C	c.(307-309)atT>atC	p.I103I	RACGAP1_ENST00000434422.1_Silent_p.I103I|RACGAP1_ENST00000312377.5_Silent_p.I103I|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000547905.1_Silent_p.I103I|RACGAP1_ENST00000551016.1_Silent_p.I103I|RACGAP1_ENST00000454520.2_Silent_p.I103I	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.I103I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GCATCTCTCGAATCAGCTGAA	0.473																																					p.I103I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T309C	12						.						115.0	93.0	100.0					12																	50399155		2203	4300	6503	48685422	SO:0001819	synonymous_variant	29127	exon6				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.309T>C	12.37:g.50399155A>G		Somatic		Capture	Illumina HiSeq	Phase_I	48685422	NM_013277		Silent	SNP	ENST00000427314.2	37	CCDS8795.1																																																																																				0.473	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277	
LARP4	113251	broad.mit.edu	37	12	50869472	50869472	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:50869472A>C	ENST00000398473.2	+	16	2112	c.2000A>C	c.(1999-2001)aAg>aCg	p.K667T	LARP4_ENST00000429001.3_Missense_Mutation_p.K673T|LARP4_ENST00000347328.5_Missense_Mutation_p.K596T|LARP4_ENST00000293618.8_Missense_Mutation_p.K596T|LARP4_ENST00000518444.1_Missense_Mutation_p.K666T	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	667					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K667T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCACATGAGAAGCCAGAAGCA	0.502																																					p.K667T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2000C	12						.						93.0	94.0	94.0					12																	50869472		1864	4100	5964	49155739	SO:0001583	missense	113251	exon16			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2000A>C	12.37:g.50869472A>C	ENSP00000381490:p.Lys667Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49155739	NM_052879	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591599	0.46214	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.44	3.09	0.35607	.	0.418107	0.26418	N	0.024500	T	0.56277	0.1974	M	0.64997	1.995	0.34098	D	0.661578	D;D;D;P;P;D;D	0.71674	0.996;0.997;0.984;0.867;0.928;0.998;0.998	D;P;P;P;P;D;D	0.68621	0.936;0.869;0.839;0.544;0.626;0.919;0.959	T	0.66532	-0.5900	10	0.66056	D	0.02	.	9.138	0.36886	0.786:0.0:0.214:0.0	.	548;77;666;596;596;667;673	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	T	596;673;667;666;548;596	ENSP00000293618:K596T;ENSP00000415464:K673T;ENSP00000381490:K667T;ENSP00000429077:K666T;ENSP00000340901:K596T	ENSP00000293618:K596T	K	+	2	0	LARP4	49155739	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	2.362000	0.44169	0.459000	0.27016	0.523000	0.50628	AAG		0.502	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
DIP2B	57609	broad.mit.edu	37	12	51068311	51068311	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51068311C>A	ENST00000301180.5	+	6	729	c.695C>A	c.(694-696)tCt>tAt	p.S232Y		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	232	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S232Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCCTCATCATCTTCCTCAATT	0.448																																					p.S232Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695A	12						.						140.0	124.0	130.0					12																	51068311		2203	4300	6503	49354578	SO:0001583	missense	57609	exon6			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.695C>A	12.37:g.51068311C>A	ENSP00000301180:p.Ser232Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	49354578	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	5.755	0.323623	0.10900	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.23754	1.89	4.57	4.57	0.56435	.	0.000000	0.52532	D	0.000076	T	0.13543	0.0328	N	0.24115	0.695	0.34385	D	0.693496	B;P	0.39964	0.41;0.697	B;B	0.35413	0.135;0.202	T	0.10428	-1.0630	10	0.08381	T	0.77	-8.4553	11.0831	0.48072	0.0:0.9149:0.0:0.0851	.	232;242	Q9P265;E9PHD6	DIP2B_HUMAN;.	Y	242;232	ENSP00000301180:S232Y	ENSP00000301180:S232Y	S	+	2	0	DIP2B	49354578	0.703000	0.27826	0.995000	0.50966	0.785000	0.44390	3.150000	0.50662	2.389000	0.81357	0.467000	0.42956	TCT		0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
DIP2B	57609	broad.mit.edu	37	12	51084858	51084858	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51084858A>G	ENST00000301180.5	+	13	1612	c.1578A>G	c.(1576-1578)gtA>gtG	p.V526V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	526						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V526V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGGGAGTGTAATGGGAGTTA	0.403																																					p.V526V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1578G	12						.						118.0	103.0	108.0					12																	51084858		2203	4300	6503	49371125	SO:0001819	synonymous_variant	57609	exon13			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1578A>G	12.37:g.51084858A>G		Somatic		Capture	Illumina HiSeq	Phase_I	49371125	NM_173602	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.403	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
TMPRSS12	283471	broad.mit.edu	37	12	51281198	51281198	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51281198T>G	ENST00000398458.3	+	5	981	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	317	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.F317V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GACAGAGCATTTCTTCCATGC	0.413																																					p.F317V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T949G	12						.						151.0	151.0	151.0					12																	51281198		1900	4113	6013	49567465	SO:0001583	missense	283471	exon5			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.949T>G	12.37:g.51281198T>G	ENSP00000381476:p.Phe317Val	Somatic		Capture	Illumina HiSeq	Phase_I	49567465	NM_182559	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435995	0.25813	.	.	ENSG00000186452	ENST00000398458	D	0.87412	-2.25	5.26	-3.61	0.04556	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.855818	0.09552	N	0.786841	T	0.54431	0.1858	N	0.00301	-1.68	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.54569	-0.8274	10	0.21540	T	0.41	-0.0048	5.1983	0.15250	0.1492:0.4615:0.0:0.3892	.	317	Q86WS5	TMPSC_HUMAN	V	317	ENSP00000381476:F317V	ENSP00000381476:F317V	F	+	1	0	TMPRSS12	49567465	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.176000	0.03099	-0.448000	0.07128	0.377000	0.23210	TTC		0.413	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559	
METTL7A	25840	broad.mit.edu	37	12	51323741	51323741	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51323741G>A	ENST00000548553.1	+	3	1524	c.543G>A	c.(541-543)tcG>tcA	p.S181S	METTL7A_ENST00000332160.4_Silent_p.S181S			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	181						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.S181S(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CTGAGTGTTCGACTTGGAATT	0.463																																					p.S181S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G543A	12						.						133.0	132.0	133.0					12																	51323741		2203	4300	6503	49610008	SO:0001819	synonymous_variant	25840	exon2				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.543G>A	12.37:g.51323741G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49610008	NM_014033	Q9H7R3|Q9UHZ7|Q9Y422	Silent	SNP	ENST00000548553.1	37	CCDS8804.1																																																																																				0.463	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033	
METTL7A	25840	broad.mit.edu	37	12	51323849	51323849	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51323849C>A	ENST00000548553.1	+	3	1632	c.651C>A	c.(649-651)ttC>ttA	p.F217L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F217L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	217						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.F217L(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GGGCCAGCTTCTCTAAGCTGA	0.547																																					p.F217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C651A	12						.						73.0	73.0	73.0					12																	51323849		2203	4300	6503	49610116	SO:0001583	missense	25840	exon2				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.651C>A	12.37:g.51323849C>A	ENSP00000448785:p.Phe217Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49610116	NM_014033	Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665606	0.88251	.	.	ENSG00000185432	ENST00000548553;ENST00000332160;ENST00000433599	T;T	0.32988	1.43;1.43	5.61	3.71	0.42584	.	0.052884	0.85682	D	0.000000	T	0.62950	0.2470	M	0.93978	3.48	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.69351	-0.5168	10	0.54805	T	0.06	3.2116	11.5302	0.50604	0.0:0.8834:0.0:0.1166	.	217	Q9H8H3	MET7A_HUMAN	L	217;217;148	ENSP00000448785:F217L;ENSP00000331787:F217L	ENSP00000331787:F217L	F	+	3	2	METTL7A	49610116	0.986000	0.35501	0.996000	0.52242	0.897000	0.52465	0.157000	0.16402	0.785000	0.33685	0.655000	0.94253	TTC		0.547	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033	
LETMD1	25875	broad.mit.edu	37	12	51449948	51449948	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51449948G>T	ENST00000262055.4	+	6	721	c.682G>T	c.(682-684)Gca>Tca	p.A228S	LETMD1_ENST00000418425.2_Missense_Mutation_p.A241S|LETMD1_ENST00000550929.1_Missense_Mutation_p.A172S|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.A111S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	228	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.A228S(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TACCCACCCAGCAATACATGA	0.468																																					p.A172S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514T	12						.						157.0	137.0	143.0					12																	51449948		2203	4300	6503	49736215	SO:0001583	missense	25875	exon6			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.682G>T	12.37:g.51449948G>T	ENSP00000262055:p.Ala228Ser	Somatic		Capture	Illumina HiSeq	Phase_I	49736215	NM_001024668	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	5.163	0.215586	0.09810	.	.	ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000550814;ENST00000418425;ENST00000448283;ENST00000552739	T;T;T;T;T;T;T;T	0.44083	1.32;1.32;1.32;1.32;0.93;1.32;1.32;1.32	4.9	0.974	0.19715	LETM1-like (1);	0.597033	0.17922	N	0.157461	T	0.22975	0.0555	N	0.19112	0.55	0.21527	N	0.99966	B;B;B;B	0.33612	0.419;0.001;0.029;0.003	B;B;B;B	0.38500	0.275;0.002;0.03;0.002	T	0.29941	-0.9995	10	0.02654	T	1	0.0826	7.3652	0.26768	0.3616:0.0:0.6384:0.0	.	178;241;111;228	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.;.;.;LTMD1_HUMAN	S	195;172;228;178;127;111;36;241;178;111	ENSP00000446862:A195S;ENSP00000450163:A172S;ENSP00000262055:A228S;ENSP00000449896:A178S;ENSP00000450275:A127S;ENSP00000447166:A111S;ENSP00000389903:A241S;ENSP00000450333:A111S	ENSP00000262055:A228S	A	+	1	0	LETMD1	49736215	0.201000	0.23410	0.384000	0.26145	0.104000	0.19210	0.411000	0.21115	0.079000	0.16929	0.655000	0.94253	GCA		0.468	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	
TFCP2	7024	broad.mit.edu	37	12	51511513	51511513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51511513G>A	ENST00000257915.5	-	3	750	c.292C>T	c.(292-294)Cga>Tga	p.R98*	TFCP2_ENST00000548115.1_Nonsense_Mutation_p.R98*|TFCP2_ENST00000307660.4_Nonsense_Mutation_p.R98*|TFCP2_ENST00000549867.1_Nonsense_Mutation_p.R98*	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	98					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R98*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCTAGCATTCGAATTTCATAA	0.294																																					p.R98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C292T	12						.						61.0	61.0	61.0					12																	51511513		2201	4295	6496	49797780	SO:0001587	stop_gained	7024	exon3			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.292C>T	12.37:g.51511513G>A	ENSP00000257915:p.Arg98*	Somatic		Capture	Illumina HiSeq	Phase_I	49797780	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Nonsense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	39	7.774260	0.98483	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3008	11.6316	0.51178	0.0:0.0:0.7283:0.2717	.	.	.	.	X	98	.	ENSP00000257915:R98X	R	-	1	2	TFCP2	49797780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.289000	0.51747	2.937000	0.99478	0.650000	0.86243	CGA		0.294	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
TFCP2	7024	broad.mit.edu	37	12	51566172	51566172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51566172C>T	ENST00000257915.5	-	1	492	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	TFCP2_ENST00000548115.1_Missense_Mutation_p.E12K|TFCP2_ENST00000307660.4_Missense_Mutation_p.E12K|TFCP2_ENST00000549867.1_Missense_Mutation_p.E12K	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	12					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E12K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCAATCACTTCGTCGGCCAGA	0.577																																					p.E12K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G34A	12						.						109.0	103.0	105.0					12																	51566172		2203	4300	6503	49852439	SO:0001583	missense	7024	exon1			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.34G>A	12.37:g.51566172C>T	ENSP00000257915:p.Glu12Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49852439	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703151	0.68501	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.44083	2.23;0.93;2.28;0.93	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	N	0.14661	0.345	0.58432	D	0.999998	D;B;B;B	0.76494	0.999;0.107;0.011;0.012	D;B;B;B	0.74023	0.982;0.019;0.004;0.006	T	0.56306	-0.8001	10	0.72032	D	0.01	-11.9409	17.5962	0.88012	0.0:1.0:0.0:0.0	.	12;12;12;12	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	K	12	ENSP00000257915:E12K;ENSP00000304411:E12K;ENSP00000449742:E12K;ENSP00000447991:E12K	ENSP00000257915:E12K	E	-	1	0	TFCP2	49852439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.776000	0.75023	2.683000	0.91414	0.655000	0.94253	GAA		0.577	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
BIN2	51411	broad.mit.edu	37	12	51696901	51696901	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51696901C>T	ENST00000267012.4	-	3	248	c.187G>A	c.(187-189)Gac>Aac	p.D63N	BIN2_ENST00000452142.2_Missense_Mutation_p.D63N|BIN2_ENST00000604560.1_Missense_Mutation_p.D36N|BIN2_ENST00000544402.1_Missense_Mutation_p.D37N	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	63	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.D63N(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTCTTCAGGTCCTTGTACAGC	0.433																																					p.D63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	12						.						126.0	115.0	119.0					12																	51696901		2203	4300	6503	49983168	SO:0001583	missense	51411	exon3			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.187G>A	12.37:g.51696901C>T	ENSP00000267012:p.Asp63Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49983168	NM_016293	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207667	0.95033	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.64085	-0.08;-0.08;-0.08	4.74	4.74	0.60224	BAR (3);	0.063063	0.64402	D	0.000013	T	0.77844	0.4191	M	0.79926	2.475	0.49213	D	0.999764	D;D;D	0.69078	0.989;0.997;0.991	P;D;P	0.64687	0.706;0.928;0.85	T	0.78445	-0.2201	10	0.41790	T	0.15	-14.8088	15.5023	0.75709	0.0:1.0:0.0:0.0	.	37;63;63	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	N	63;63;37	ENSP00000410217:D63N;ENSP00000267012:D63N;ENSP00000445874:D37N	ENSP00000267012:D63N	D	-	1	0	BIN2	49983168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.207000	0.72159	2.581000	0.87130	0.650000	0.86243	GAC		0.433	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		
GALNT6	11226	broad.mit.edu	37	12	51758060	51758060	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:51758060G>A	ENST00000543196.2	-	5	1099	c.894C>T	c.(892-894)atC>atT	p.I298I	GALNT6_ENST00000356317.3_Silent_p.I298I			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	298					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I298I(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATGGTGACGATGTCTGGGC	0.607																																					p.I298I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894T	12						.						92.0	85.0	87.0					12																	51758060		2203	4300	6503	50044327	SO:0001819	synonymous_variant	11226	exon6			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.894C>T	12.37:g.51758060G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50044327	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.607	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
SCN8A	6334	broad.mit.edu	37	12	52183056	52183056	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52183056C>A	ENST00000354534.6	+	24	4459				SCN8A_ENST00000545061.1_Intron	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTATCCTGTCCTTTGACAGCC	0.453																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						116.0	109.0	112.0					12																	52183056		1992	4186	6178	50469323	SO:0001627	intron_variant	6334	.			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4282-9C>A	12.37:g.52183056C>A		Somatic		Capture	Illumina HiSeq	Phase_I	50469323	.	B9VWG8|O95788|Q9NYX2|Q9UPB2	Intron	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
ACVR1B	91	broad.mit.edu	37	12	52374942	52374942	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52374942G>A	ENST00000257963.4	+	4	847	c.770G>A	c.(769-771)cGc>cAc	p.R257H	ACVR1B_ENST00000541224.1_Missense_Mutation_p.R257H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R257H|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R257H|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R205H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.R257H(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTCATGCTGCGCCATGAAAAC	0.488											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R257H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G770A	12						.						118.0	113.0	115.0					12																	52374942		2203	4300	6503	50661209	SO:0001583	missense	91	exon4				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.770G>A	12.37:g.52374942G>A	ENSP00000257963:p.Arg257His	Somatic	984	Capture	Illumina HiSeq	Phase_I	50661209	NM_020328	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158920	0.94686	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	L	0.56199	1.76	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.983;0.983	P;D;P;P	0.91635	0.878;0.999;0.552;0.624	D	0.96322	0.9237	10	0.87932	D	0	.	18.7478	0.91800	0.0:0.0:1.0:0.0	.	257;257;257;257	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	H	257;257;257;257;205	ENSP00000257963:R257H;ENSP00000442656:R257H;ENSP00000390477:R257H;ENSP00000397550:R257H;ENSP00000442885:R205H	ENSP00000257963:R257H	R	+	2	0	ACVR1B	50661209	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.510000	0.84645	0.655000	0.94253	CGC		0.488	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
KRT75	9119	broad.mit.edu	37	12	52822434	52822434	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52822434G>A	ENST00000252245.5	-	6	1349	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	377	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L377L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCAGCTCTCAGCCTCTGGATC	0.502																																					p.L377L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1129T	12						.						168.0	140.0	149.0					12																	52822434		2203	4300	6503	51108701	SO:0001819	synonymous_variant	9119	exon6			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1129C>T	12.37:g.52822434G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51108701	NM_004693	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																				0.502	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT75	9119	broad.mit.edu	37	12	52825827	52825827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52825827C>T	ENST00000252245.5	-	3	957	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	246	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R246H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGCAGCTGTGCGCTTGTTAAT	0.463																																					p.R246H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	12						.						104.0	91.0	95.0					12																	52825827		2203	4300	6503	51112094	SO:0001583	missense	9119	exon3			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.737G>A	12.37:g.52825827C>T	ENSP00000252245:p.Arg246His	Somatic		Capture	Illumina HiSeq	Phase_I	51112094	NM_004693	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305497	0.81247	.	.	ENSG00000170454	ENST00000252245	D	0.89939	-2.59	5.71	3.88	0.44766	Filament (1);	0.000000	0.56097	D	0.000038	D	0.91754	0.7392	M	0.88906	2.99	0.39706	D	0.971263	P	0.51653	0.947	P	0.48982	0.597	D	0.91793	0.5445	10	0.66056	D	0.02	.	10.4999	0.44800	0.0:0.8486:0.0:0.1514	.	246	O95678	K2C75_HUMAN	H	246	ENSP00000252245:R246H	ENSP00000252245:R246H	R	-	2	0	KRT75	51112094	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	2.493000	0.45320	0.761000	0.33130	0.655000	0.94253	CGC		0.463	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT5	3852	broad.mit.edu	37	12	52911023	52911023	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52911023C>T	ENST00000252242.4	-	6	1483					NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5						cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATACTGATGCAGCCAGGAAA	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						68.0	66.0	67.0					12																	52911023		2203	4300	6503	51197290	SO:0001627	intron_variant	3852	.				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1093-7G>A	12.37:g.52911023C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51197290	.	Q6PI71|Q6UBJ0|Q8TA91	Intron	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																				0.507	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT5	3852	broad.mit.edu	37	12	52911411	52911411	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:52911411C>T	ENST00000252242.4	-	5	1445	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	352	Coil 2.|Rod.		R -> S (in WC-EBS). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.R352H(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCCGGCTGCGGTTGGCAAT	0.562																																					p.R352H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1055A	12						.						146.0	138.0	141.0					12																	52911411		2203	4300	6503	51197678	SO:0001583	missense	3852	exon5				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1055G>A	12.37:g.52911411C>T	ENSP00000252242:p.Arg352His	Somatic		Capture	Illumina HiSeq	Phase_I	51197678	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351596	0.61183	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	T	0.78816	-1.21	6.03	4.18	0.49190	Filament (1);	0.000000	0.64402	D	0.000016	T	0.80529	0.4640	L	0.58510	1.815	0.35958	D	0.834397	D	0.60160	0.987	P	0.52758	0.708	D	0.86347	0.1708	10	0.72032	D	0.01	.	12.6369	0.56689	0.0:0.8141:0.0:0.1859	.	352	P13647	K2C5_HUMAN	H	352;317	ENSP00000252242:R352H	ENSP00000252242:R352H	R	-	2	0	KRT5	51197678	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.358000	0.52284	1.524000	0.49035	0.655000	0.94253	CGC		0.562	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT73	319101	broad.mit.edu	37	12	53012087	53012087	+	Silent	SNP	G	G	A	rs147112947		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53012087G>A	ENST00000305748.3	-	1	256	c.222C>T	c.(220-222)ggC>ggT	p.G74G	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	74	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G74G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCGGCCCCGGCCAAATCCAT	0.642																																					p.G74G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	12						.						79.0	93.0	88.0					12																	53012087		2203	4299	6502	51298354	SO:0001819	synonymous_variant	319101	exon1			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.222C>T	12.37:g.53012087G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51298354	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
KRT1	3848	broad.mit.edu	37	12	53070922	53070922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53070922C>A	ENST00000252244.3	-	6	1233	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	392	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.R392I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTTGAATTTCTCACACTATC	0.423																																					p.R392I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175T	12						.						142.0	134.0	137.0					12																	53070922		2203	4300	6503	51357189	SO:0001583	missense	3848	exon6			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1175G>T	12.37:g.53070922C>A	ENSP00000252244:p.Arg392Ile	Somatic		Capture	Illumina HiSeq	Phase_I	51357189	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193700	0.38707	.	.	ENSG00000167768	ENST00000252244	T	0.78595	-1.19	4.58	-2.01	0.07410	Filament (1);	.	.	.	.	D	0.90796	0.7110	H	0.97240	3.965	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.82812	-0.0272	9	0.87932	D	0	.	11.7719	0.51965	0.0:0.4784:0.0:0.5216	.	392	P04264	K2C1_HUMAN	I	392	ENSP00000252244:R392I	ENSP00000252244:R392I	R	-	2	0	KRT1	51357189	0.000000	0.05858	0.148000	0.22405	0.427000	0.31564	0.271000	0.18626	-0.184000	0.10567	-0.475000	0.04921	AGA		0.423	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
KRT77	374454	broad.mit.edu	37	12	53091588	53091588	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53091588C>T	ENST00000341809.3	-	2	664	c.636G>A	c.(634-636)gaG>gaA	p.E212E	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	212	Linker 1.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E212E(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCAAGAGGGGCTCCAGGTTGT	0.567																																					p.E212E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G636A	12						.						208.0	199.0	202.0					12																	53091588		2203	4300	6503	51377855	SO:0001819	synonymous_variant	374454	exon2			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.636G>A	12.37:g.53091588C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51377855	NM_175078	Q7RTS8	Silent	SNP	ENST00000341809.3	37	CCDS8837.1																																																																																				0.567	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	
KRT77	374454	broad.mit.edu	37	12	53096752	53096752	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53096752T>A	ENST00000341809.3	-	1	495	c.467A>T	c.(466-468)gAa>gTa	p.E156V	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	156	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E156V(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTCTGAATTTCAGGGTCCAC	0.552																																					p.E156V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467T	12						.						137.0	134.0	135.0					12																	53096752		2203	4300	6503	51383019	SO:0001583	missense	374454	exon1			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.467A>T	12.37:g.53096752T>A	ENSP00000342710:p.Glu156Val	Somatic		Capture	Illumina HiSeq	Phase_I	51383019	NM_175078	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503536	0.64298	.	.	ENSG00000189182	ENST00000341809	T	0.75821	-0.97	4.61	4.61	0.57282	.	.	.	.	.	D	0.87962	0.6310	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90385	0.4391	9	0.66056	D	0.02	.	14.5163	0.67821	0.0:0.0:0.0:1.0	.	156	Q7Z794	K2C1B_HUMAN	V	156	ENSP00000342710:E156V	ENSP00000342710:E156V	E	-	2	0	KRT77	51383019	0.410000	0.25376	1.000000	0.80357	0.996000	0.88848	3.018000	0.49625	2.095000	0.63458	0.477000	0.44152	GAA		0.552	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	
KRT18	3875	broad.mit.edu	37	12	53344647	53344647	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53344647C>T	ENST00000388835.3	+	3	824	c.614C>T	c.(613-615)gCt>gTt	p.A205V	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000550600.1_Missense_Mutation_p.A205V|KRT18_ENST00000388837.2_Missense_Mutation_p.A205V|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	205	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.A205V(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAGATCGAGGCTCTCAAGGAG	0.577																																					p.A205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	12						.						19.0	16.0	17.0					12																	53344647		2203	4299	6502	51630914	SO:0001583	missense	3875	exon4				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.614C>T	12.37:g.53344647C>T	ENSP00000373487:p.Ala205Val	Somatic		Capture	Illumina HiSeq	Phase_I	51630914	NM_199187	Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	18.05	3.537954	0.65085	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89343	-2.5;-2.5;-2.5	3.85	2.95	0.34219	Filament (1);	0.446211	0.20459	N	0.091940	D	0.89469	0.6724	M	0.76574	2.34	0.43673	D	0.996107	B;B	0.28512	0.214;0.032	B;B	0.37387	0.248;0.119	D	0.89187	0.3548	10	0.87932	D	0	.	11.791	0.52070	0.0:0.8209:0.1791:0.0	.	205;205	F8VZY9;P05783	.;K1C18_HUMAN	V	205	ENSP00000373489:A205V;ENSP00000447278:A205V;ENSP00000373487:A205V	ENSP00000373487:A205V	A	+	2	0	KRT18	51630914	0.155000	0.22806	0.992000	0.48379	0.998000	0.95712	1.568000	0.36418	1.181000	0.42912	0.561000	0.74099	GCT		0.577	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187	
MFSD5	84975	broad.mit.edu	37	12	53647137	53647137	+	Missense_Mutation	SNP	G	G	A	rs370069764		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53647137G>A	ENST00000329548.4	+	2	709	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	MFSD5_ENST00000534842.1_Missense_Mutation_p.R280Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	173					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R173Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCTTTGCTCGAGCTGCCTTC	0.597																																					p.R173Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G518A	12						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162.0	160.0	161.0		839,518	4.6	1.0	12		161	0,8600		0,0,4300	no	missense,missense	MFSD5	NM_001170790.1,NM_032889.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	280/558,173/451	53647137	1,13005	2203	4300	6503	51933404	SO:0001583	missense	84975	exon2			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.518G>A	12.37:g.53647137G>A	ENSP00000332624:p.Arg173Gln	Somatic		Capture	Illumina HiSeq	Phase_I	51933404	NM_032889	G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597199	0.46318	2.27E-4	0.0	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80909	-1.43;-1.43	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.151528	0.44285	D	0.000464	T	0.59224	0.2178	N	0.16743	0.435	0.39877	D	0.973586	P;P	0.50066	0.855;0.931	B;B	0.34536	0.136;0.185	T	0.61792	-0.6990	10	0.19590	T	0.45	-0.1737	10.5101	0.44857	0.0935:0.0:0.9065:0.0	.	173;280	Q6N075;G3V1N7	MFSD5_HUMAN;.	Q	280;280;280;173	ENSP00000442688:R280Q;ENSP00000332624:R173Q	ENSP00000331231:R280Q	R	+	2	0	MFSD5	51933404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.253000	0.51469	2.375000	0.81037	0.561000	0.74099	CGA		0.597	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889	
AMHR2	269	broad.mit.edu	37	12	53818569	53818569	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53818569C>T	ENST00000257863.4	+	3	389	c.309C>T	c.(307-309)ggC>ggT	p.G103G	AMHR2_ENST00000550311.1_Silent_p.G103G|AMHR2_ENST00000379791.3_Silent_p.G103G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	103					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.G103G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGCCCTGGCTCCACTCTCT	0.617																																					p.G103G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	12						.						85.0	82.0	83.0					12																	53818569		2203	4300	6503	52104836	SO:0001819	synonymous_variant	269	exon3			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.309C>T	12.37:g.53818569C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52104836	NM_020547	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	CCDS8858.1																																																																																				0.617	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547	
MAP3K12	7786	broad.mit.edu	37	12	53880278	53880278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53880278C>A	ENST00000267079.2	-	4	700	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Nonsense_Mutation_p.E192*|MAP3K12_ENST00000547488.1_Nonsense_Mutation_p.E192*	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E159*(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGTCGGTTTCTTTGAGGTCT	0.592																																					p.E192X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G574T	12						.						155.0	119.0	131.0					12																	53880278		2203	4300	6503	52166545	SO:0001587	stop_gained	7786	exon3			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.475G>T	12.37:g.53880278C>A	ENSP00000267079:p.Glu159*	Somatic		Capture	Illumina HiSeq	Phase_I	52166545	NM_001193511	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Nonsense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.131264	0.97310	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	5.36	5.36	0.76844	.	0.000000	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.2434	0.89977	0.0:1.0:0.0:0.0	.	.	.	.	X	159;192;192	.	ENSP00000267079:E159X	E	-	1	0	MAP3K12	52166545	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.561000	0.74099	GAA		0.592	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
ATF7	11016	broad.mit.edu	37	12	53910963	53910963	+	Silent	SNP	C	C	T	rs372771818		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:53910963C>T	ENST00000548446.2	-	12	1555	c.1443G>A	c.(1441-1443)tcG>tcA	p.S481S	ATF7_ENST00000328463.7_Silent_p.S481S|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000415113.1_Silent_p.S449S|ATF7_ENST00000456903.4_Silent_p.S470S|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000420353.2_Silent_p.S470S|RP11-793H13.10_ENST00000591834.1_Intron			P17544	ATF7_HUMAN	activating transcription factor 7	481	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S481S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	TGATTACATGCGATTGTATCG	0.592																																					p.S470S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1410A	12						.	C	,,	0,4148		0,0,2074	111.0	108.0	109.0		1443,1347,1410	3.0	1.0	12		109	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous,coding-synonymous	ATF7	NM_001130059.1,NM_001130060.1,NM_006856.2	,,	0,1,6288	TT,TC,CC		0.0119,0.0,0.0080	,,	481/495,449/463,470/484	53910963	1,12577	2074	4215	6289	52197230	SO:0001819	synonymous_variant	11016	exon12			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1443G>A	12.37:g.53910963C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52197230	NM_006856	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37																																																																																					0.592	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059	
HOXC13	3229	broad.mit.edu	37	12	54338957	54338957	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54338957G>T	ENST00000243056.3	+	2	1066	c.910G>T	c.(910-912)Gta>Tta	p.V304L		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	304					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V304L(1)		breast(1)|large_intestine(1)|skin(1)	3						TGAGCGCCAGGTAACCATCTG	0.577			T	NUP98	AML																																p.V304L			Dom	yes		12	12q13.3	3229	homeo box C13		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G910T	12						.						63.0	69.0	67.0					12																	54338957		2203	4300	6503	52625224	SO:0001583	missense	3229	exon2				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.910G>T	12.37:g.54338957G>T	ENSP00000243056:p.Val304Leu	Somatic		Capture	Illumina HiSeq	Phase_I	52625224	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294508	0.95546	.	.	ENSG00000123364	ENST00000243056	D	0.98958	-5.27	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99321	0.9762	M	0.93507	3.425	0.80722	D	1	D	0.61080	0.989	D	0.67382	0.951	D	0.98816	1.0745	10	0.87932	D	0	.	17.4956	0.87716	0.0:0.0:1.0:0.0	.	304	P31276	HXC13_HUMAN	L	304	ENSP00000243056:V304L	ENSP00000243056:V304L	V	+	1	0	HOXC13	52625224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.646000	0.98474	2.755000	0.94549	0.655000	0.94253	GTA		0.577	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
HOXC8	3224	broad.mit.edu	37	12	54403416	54403416	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54403416C>A	ENST00000040584.4	+	1	585	c.348C>A	c.(346-348)tcC>tcA	p.S116S	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	116					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S116S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ACTGTAAATCCTCCGCCAACA	0.537																																					p.S116S	GBM(197;701 2226 7002 18822 41696)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348A	12						.						157.0	152.0	154.0					12																	54403416		2203	4300	6503	52689683	SO:0001819	synonymous_variant	3224	exon1			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.348C>A	12.37:g.54403416C>A		Somatic		Capture	Illumina HiSeq	Phase_I	52689683	NM_022658	A8K4J4|O15221|O15362	Silent	SNP	ENST00000040584.4	37	CCDS8870.1																																																																																				0.537	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2		
HOXC6	3223	broad.mit.edu	37	12	54422622	54422622	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54422622C>A	ENST00000243108.4	+	1	481	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	HOXC6_ENST00000394331.3_Missense_Mutation_p.S24Y|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	106					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S106Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATTTTAGTTCTGAGCAGGGC	0.483																																					p.S24Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71A	12						.						119.0	119.0	119.0					12																	54422622		2203	4300	6503	52708889	SO:0001583	missense	3223	exon2				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.317C>A	12.37:g.54422622C>A	ENSP00000243108:p.Ser106Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52708889	NM_153693	B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679221	0.47886	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.93247	-3.18;-3.19	5.65	4.76	0.60689	.	0.402977	0.28589	N	0.014812	D	0.91908	0.7438	M	0.78637	2.42	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	D	0.89722	0.3920	10	0.62326	D	0.03	.	8.3523	0.32310	0.0:0.67:0.2498:0.0801	.	106	P09630	HXC6_HUMAN	Y	24;24;24;106	ENSP00000377864:S24Y;ENSP00000243108:S106Y	ENSP00000243108:S106Y	S	+	2	0	HOXC6	52708889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.825000	0.55730	1.636000	0.50526	0.655000	0.94253	TCT		0.483	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2		
HOXC4	3221	broad.mit.edu	37	12	54448036	54448036	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54448036G>T	ENST00000430889.2	+	1	376	c.330G>T	c.(328-330)ccG>ccT	p.P110P	HOXC4_ENST00000609810.1_Silent_p.P110P|HOXC4_ENST00000303406.4_Silent_p.P110P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	110					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P110P(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCGCCTCCCCGTCCCCAGCCC	0.687																																					p.P110P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G330T	12						.						12.0	14.0	14.0					12																	54448036		2194	4277	6471	52734303	SO:0001819	synonymous_variant	3221	exon3				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.330G>T	12.37:g.54448036G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52734303	NM_014620		Silent	SNP	ENST00000430889.2	37	CCDS8873.1																																																																																				0.687	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1		
HNRNPA1	3178	broad.mit.edu	37	12	54677662	54677662	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54677662T>G	ENST00000340913.6	+	9	1027	c.974T>G	c.(973-975)tTt>tGt	p.F325C	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.F260C|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.F220C|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.F273C|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	325	Gly-rich.|Nuclear targeting sequence (M9).				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.F273C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCTTCAAATTTTGGACCCATG	0.448																																					p.F325C	Colon(83;502 1289 8436 16406 24870)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T974G	12						.						97.0	102.0	101.0					12																	54677662		1982	4157	6139	52963929	SO:0001583	missense	3178	exon9			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.974T>G	12.37:g.54677662T>G	ENSP00000341826:p.Phe325Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52963929	NM_031157	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362417	0.41902	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000550482	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.06	4.06	0.47325	.	0.000000	0.44688	D	0.000427	D	0.93719	0.7993	M	0.85462	2.755	0.42066	D	0.991181	D;D;D;D;D;D;D	0.69078	0.997;0.99;0.99;0.99;0.989;0.99;0.994	P;P;P;P;D;P;P	0.65684	0.82;0.726;0.726;0.726;0.937;0.726;0.669	D	0.94301	0.7537	10	0.66056	D	0.02	.	11.6376	0.51213	0.0:0.0:0.0:1.0	.	251;260;273;273;220;273;325	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;.;ROA1_HUMAN	C	273;257;273;325;273;273;260;220;144	ENSP00000448617:F273C;ENSP00000341826:F325C;ENSP00000447260:F220C;ENSP00000446486:F144C	ENSP00000333504:F273C	F	+	2	0	HNRNPA1	52963929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.966000	0.40481	2.080000	0.62538	0.459000	0.35465	TTT		0.448	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157	
NFE2	4778	broad.mit.edu	37	12	54686853	54686853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54686853C>A	ENST00000540264.2	-	2	936	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	NFE2_ENST00000312156.4_Nonsense_Mutation_p.E143*|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Nonsense_Mutation_p.E143*|NFE2_ENST00000435572.2_Nonsense_Mutation_p.E143*			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	143	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.E143*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGTCGGATTCTGGGTCTTCT	0.577																																					p.E143X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G427T	12						.						103.0	106.0	105.0					12																	54686853		2203	4300	6503	52973120	SO:0001587	stop_gained	4778	exon3			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.427G>T	12.37:g.54686853C>A	ENSP00000439120:p.Glu143*	Somatic		Capture	Illumina HiSeq	Phase_I	52973120	NM_006163	Q07720|Q6ICV9	Nonsense_Mutation	SNP	ENST00000540264.2	37	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	C	39	7.909443	0.98557	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.4185	16.4201	0.83755	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000312436:E143X	E	-	1	0	NFE2	52973120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.520000	0.53465	2.824000	0.97209	0.655000	0.94253	GAA		0.577	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163	
GPR84	53831	broad.mit.edu	37	12	54756442	54756442	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54756442G>T	ENST00000551809.1	-	0	1829				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_3'UTR			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						TAGGGTCACAGTTCTAATGGA	0.483																																					.												.	.	0			.	12						.						132.0	153.0	146.0					12																	54756442		2203	4300	6503	53042709	SO:0001624	3_prime_UTR_variant	53831	.			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.*3C>A	12.37:g.54756442G>T		Somatic		Capture	Illumina HiSeq	Phase_I	53042709	.	B6V9G7	3'UTR	SNP	ENST00000551809.1	37	CCDS8878.1																																																																																				0.483	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
GPR84	53831	broad.mit.edu	37	12	54757317	54757317	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54757317A>G	ENST00000551809.1	-	1	954	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.S107P			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S107P(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GTCAGGATGGAGACAGAATTG	0.572																																					p.S107P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T319C	12						.						97.0	89.0	91.0					12																	54757317		2203	4300	6503	53043584	SO:0001583	missense	53831	exon2			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.319T>C	12.37:g.54757317A>G	ENSP00000450310:p.Ser107Pro	Somatic		Capture	Illumina HiSeq	Phase_I	53043584	NM_020370	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299223	0.81025	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.55930	0.49;0.49	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.77370	0.4120	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82818	-0.0269	10	0.87932	D	0	-25.0123	13.3521	0.60607	1.0:0.0:0.0:0.0	.	107	Q9NQS5	GPR84_HUMAN	P	107	ENSP00000267015:S107P;ENSP00000450310:S107P	ENSP00000267015:S107P	S	-	1	0	GPR84	53043584	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.700000	0.74619	2.104000	0.64026	0.454000	0.30748	TCC		0.572	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
ITGA5	3678	broad.mit.edu	37	12	54792448	54792448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54792448G>A	ENST00000293379.4	-	28	3137	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	959					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.A959V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTTGTACACAGCCTCACACTG	0.567																																					p.A959V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2876T	12						.						105.0	91.0	96.0					12																	54792448		2203	4300	6503	53078715	SO:0001583	missense	3678	exon28				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2876C>T	12.37:g.54792448G>A	ENSP00000293379:p.Ala959Val	Somatic		Capture	Illumina HiSeq	Phase_I	53078715	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847439	0.71603	.	.	ENSG00000161638	ENST00000293379	T	0.56611	0.45	5.36	5.36	0.76844	.	0.052477	0.85682	D	0.000000	T	0.49150	0.1540	L	0.41961	1.31	0.80722	D	1	P	0.43519	0.809	B	0.42692	0.395	T	0.38112	-0.9676	10	0.25106	T	0.35	.	16.9724	0.86303	0.0:0.0:1.0:0.0	.	959	P08648	ITA5_HUMAN	V	959	ENSP00000293379:A959V	ENSP00000293379:A959V	A	-	2	0	ITGA5	53078715	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.629000	0.67798	2.699000	0.92147	0.655000	0.94253	GCT		0.567	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
ITGA5	3678	broad.mit.edu	37	12	54798246	54798246	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54798246C>T	ENST00000293379.4	-	14	1692	c.1431G>A	c.(1429-1431)ggG>ggA	p.G477G	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	477					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.G477G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CACCAAAGGACCCCACAATCA	0.502											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G477G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431A	12						.						265.0	278.0	274.0					12																	54798246		2203	4300	6503	53084513	SO:0001819	synonymous_variant	3678	exon14				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1431G>A	12.37:g.54798246C>T		Somatic	1003	Capture	Illumina HiSeq	Phase_I	53084513	NM_002205	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																				0.502	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
ITGA5	3678	broad.mit.edu	37	12	54799666	54799666	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:54799666G>T	ENST00000293379.4	-	10	1212	c.951C>A	c.(949-951)ttC>ttA	p.F317L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	317					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.F317L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTTCCCCTGAGAAGTTGTAGA	0.537																																					p.F317L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C951A	12						.						126.0	118.0	121.0					12																	54799666		2203	4300	6503	53085933	SO:0001583	missense	3678	exon10				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.951C>A	12.37:g.54799666G>T	ENSP00000293379:p.Phe317Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53085933	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533529	0.45073	.	.	ENSG00000161638	ENST00000293379	T	0.20332	2.08	4.82	2.92	0.33932	.	0.216238	0.37437	N	0.002090	T	0.11153	0.0272	N	0.16266	0.395	0.39153	D	0.962255	B	0.06786	0.001	B	0.06405	0.002	T	0.11991	-1.0565	10	0.36615	T	0.2	.	6.2664	0.20930	0.3224:0.0:0.6776:0.0	.	317	P08648	ITA5_HUMAN	L	317	ENSP00000293379:F317L	ENSP00000293379:F317L	F	-	3	2	ITGA5	53085933	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.773000	0.26661	0.697000	0.31718	0.561000	0.74099	TTC		0.537	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
TESPA1	9840	broad.mit.edu	37	12	55356356	55356356	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55356356G>T	ENST00000449076.1	-	9	1458	c.1326C>A	c.(1324-1326)ctC>ctA	p.L442L	TESPA1_ENST00000316577.8_Silent_p.L442L|TESPA1_ENST00000532804.1_Silent_p.L304L|TESPA1_ENST00000531122.1_Silent_p.L304L|TESPA1_ENST00000524622.1_Silent_p.L304L|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	442					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L442L(1)|p.L304L(1)									TCTTCTGGAAGAGGCTCTTTC	0.498																																					p.L442L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1326A	12						.						170.0	170.0	170.0					12																	55356356		1917	4123	6040	53642623	SO:0001819	synonymous_variant	9840	exon9			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1326C>A	12.37:g.55356356G>T		Somatic		Capture	Illumina HiSeq	Phase_I	53642623	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.498	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
OR10A7	121364	broad.mit.edu	37	12	55614806	55614806	+	5'Flank	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55614806G>T	ENST00000326258.1	+	0	0					NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ACTCATCTAAGATATGATCTG	0.318																																					.												.	.	0			.	12						.						109.0	114.0	112.0					12																	55614806		2201	4299	6500	53901073	SO:0001631	upstream_gene_variant	121364	.			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860		12.37:g.55614806G>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	53901073	.	Q6IFD5|Q96R19	5'Flank	SNP	ENST00000326258.1	37	CCDS31815.1																																																																																				0.318	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1		
OR6C6	283365	broad.mit.edu	37	12	55688102	55688102	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55688102C>A	ENST00000358433.2	-	1	914	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K305N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AACACAAATTCTTTTGTAATA	0.373																																					p.K305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	12						.						47.0	50.0	49.0					12																	55688102		2202	4300	6502	53974369	SO:0001583	missense	283365	exon1				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.915G>T	12.37:g.55688102C>A	ENSP00000351211:p.Lys305Asn	Somatic		Capture	Illumina HiSeq	Phase_I	53974369	NM_001005493		Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	14.97	2.694405	0.48202	.	.	ENSG00000188324	ENST00000358433	T	0.38887	1.11	4.28	0.938	0.19500	.	0.387274	0.21619	N	0.071677	T	0.25457	0.0619	N	0.26042	0.785	0.09310	N	0.999999	B	0.18863	0.031	B	0.21151	0.033	T	0.18555	-1.0333	10	0.87932	D	0	.	4.3723	0.11253	0.1521:0.5309:0.0:0.3169	.	305	A6NF89	OR6C6_HUMAN	N	305	ENSP00000351211:K305N	ENSP00000351211:K305N	K	-	3	2	OR6C6	53974369	0.000000	0.05858	0.006000	0.13384	0.886000	0.51366	-0.016000	0.12613	0.075000	0.16796	0.638000	0.83543	AAG		0.373	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
OR6C1	390321	broad.mit.edu	37	12	55714458	55714458	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55714458C>A	ENST00000379668.2	+	1	113	c.75C>A	c.(73-75)atC>atA	p.I25I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I25I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGTTGTAATCTTTGTCTTCC	0.423																																					p.I25I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75A	12						.						79.0	79.0	79.0					12																	55714458		2203	4300	6503	54000725	SO:0001819	synonymous_variant	390321	exon1			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.75C>A	12.37:g.55714458C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54000725	NM_001005182	B2RNM0	Silent	SNP	ENST00000379668.2	37	CCDS31818.1																																																																																				0.423	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
OR6C1	390321	broad.mit.edu	37	12	55714734	55714734	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55714734C>A	ENST00000379668.2	+	1	389	c.351C>A	c.(349-351)tcC>tcA	p.S117S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S117S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGCCATGTCCTATGACCGCT	0.408																																					p.S117S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351A	12						.						49.0	50.0	50.0					12																	55714734		2201	4300	6501	54001001	SO:0001819	synonymous_variant	390321	exon1			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.351C>A	12.37:g.55714734C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54001001	NM_001005182	B2RNM0	Silent	SNP	ENST00000379668.2	37	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
OR6C70	390327	broad.mit.edu	37	12	55863220	55863220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:55863220C>T	ENST00000327335.4	-	1	702	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A235T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GTGGAAAAGGCTTTCTTCTTT	0.363																																					p.A235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	12						.						126.0	125.0	125.0					12																	55863220		2203	4300	6503	54149487	SO:0001583	missense	390327	exon1				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.703G>A	12.37:g.55863220C>T	ENSP00000329153:p.Ala235Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54149487	NM_001005499		Missense_Mutation	SNP	ENST00000327335.4	37	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113581	0.37339	.	.	ENSG00000184954	ENST00000327335	T	0.00357	7.89	3.99	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.00754	0.0025	M	0.80746	2.51	0.28031	N	0.934136	D	0.76494	0.999	D	0.75484	0.986	T	0.19910	-1.0291	10	0.87932	D	0	.	11.9113	0.52741	0.0:0.9127:0.0:0.0873	.	235	A6NIJ9	O6C70_HUMAN	T	235	ENSP00000329153:A235T	ENSP00000329153:A235T	A	-	1	0	OR6C70	54149487	0.003000	0.15002	0.689000	0.30133	0.002000	0.02628	0.854000	0.27791	1.043000	0.40175	-0.133000	0.14855	GCC		0.363	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1		
ITGA7	3679	broad.mit.edu	37	12	56089431	56089431	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56089431G>T	ENST00000555728.1	-	15	2048				ITGA7_ENST00000394230.2_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257880.7_Intron|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000553804.1_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7						blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTGGGGAGAGACATGAGATA	0.557																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						61.0	58.0	59.0					12																	56089431		2203	4300	6503	54375698	SO:0001627	intron_variant	3679	.				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2020-10C>A	12.37:g.56089431G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54375698	.	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Intron	SNP	ENST00000555728.1	37																																																																																					0.557	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
BLOC1S1	2647	broad.mit.edu	37	12	56113310	56113310	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56113310C>T	ENST00000548925.1	+	4	394	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RDH5_ENST00000257895.5_5'Flank|RDH5_ENST00000547072.1_5'Flank|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.R49W|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.R49W|BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.R99W			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	127					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)		p.R99W(1)		breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						GAACTGGGCTCGGAGCATCGA	0.582																																					p.R127W	Colon(112;1254 2715 13015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C379T	12						.						78.0	71.0	73.0					12																	56113310		2203	4300	6503	54399577	SO:0001583	missense	2647	exon4			S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.379C>T	12.37:g.56113310C>T	ENSP00000447537:p.Arg127Trp	Somatic		Capture	Illumina HiSeq	Phase_I	54399577	NM_001487	A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016488	0.75161	.	.	ENSG00000135441	ENST00000257899;ENST00000548925;ENST00000547076;ENST00000548556	.	.	.	5.37	4.47	0.54385	.	0.060375	0.64402	D	0.000005	T	0.75087	0.3802	M	0.76574	2.34	0.54753	D	0.999981	D	0.76494	0.999	D	0.63192	0.912	T	0.78201	-0.2296	9	0.87932	D	0	-29.4953	11.6412	0.51233	0.3202:0.6797:0.0:0.0	.	127	P78537	BL1S1_HUMAN	W	99;127;49;49	.	ENSP00000257899:R99W	R	+	1	2	BLOC1S1	54399577	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.266000	0.43320	1.378000	0.46305	0.655000	0.94253	CGG		0.582	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487	
CD63	967	broad.mit.edu	37	12	56120015	56120015	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56120015C>A	ENST00000549117.1	-	6	893	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	CD63_ENST00000550776.1_Missense_Mutation_p.D71Y|CD63_ENST00000548160.1_Missense_Mutation_p.D60Y|CD63_ENST00000552754.1_Missense_Mutation_p.D130Y|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000546939.1_Missense_Mutation_p.D71Y|CD63_ENST00000420846.3_Missense_Mutation_p.D153Y|CD63_ENST00000552692.1_Missense_Mutation_p.D153Y|CD63_ENST00000548898.1_Missense_Mutation_p.D60Y|CD63_ENST00000257857.4_Missense_Mutation_p.D153Y|CD63_ENST00000552067.1_Missense_Mutation_p.D60Y	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	153					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.D153Y(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TTCTCCCAATCTGTGTAGTTA	0.463																																					p.D153Y	Pancreas(123;1459 1747 6717 18841 37380)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457T	12						.						100.0	99.0	99.0					12																	56120015		2203	4300	6503	54406282	SO:0001583	missense	967	exon6			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.457G>T	12.37:g.56120015C>A	ENSP00000447730:p.Asp153Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54406282	NM_001780	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316221	0.81469	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	D;D;D;D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.57	4.57	0.56435	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.94255	0.8155	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.95514	0.8588	10	0.87932	D	0	.	15.2358	0.73430	0.0:1.0:0.0:0.0	.	130;153;153	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	Y	60;60;153;60;71;153;153;153;130;71;153;153	ENSP00000447938:D60Y;ENSP00000449684:D60Y;ENSP00000393502:D153Y;ENSP00000449654:D60Y;ENSP00000447356:D71Y;ENSP00000449337:D153Y;ENSP00000447730:D153Y;ENSP00000257857:D153Y;ENSP00000446807:D130Y;ENSP00000448091:D71Y;ENSP00000449281:D153Y;ENSP00000446752:D153Y	ENSP00000257857:D153Y	D	-	1	0	CD63	54406282	0.999000	0.42202	0.992000	0.48379	0.958000	0.62258	4.647000	0.61418	2.557000	0.86248	0.591000	0.81541	GAT		0.463	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1		
GDF11	10220	broad.mit.edu	37	12	56142696	56142696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56142696G>A	ENST00000257868.5	+	2	809	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	258					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.E258K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGGGGCATCGAGATCAACGC	0.612																																					p.E258K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	12						.						54.0	36.0	42.0					12																	56142696		2203	4300	6503	54428963	SO:0001583	missense	10220	exon2			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.772G>A	12.37:g.56142696G>A	ENSP00000257868:p.Glu258Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54428963	NM_005811	Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898364	0.72639	.	.	ENSG00000135414	ENST00000257868	T	0.67171	-0.25	4.32	4.32	0.51571	Transforming growth factor-beta, N-terminal (1);	0.057035	0.64402	D	0.000002	T	0.64538	0.2607	M	0.72353	2.195	0.58432	D	0.999994	P	0.36412	0.552	B	0.34652	0.187	T	0.66674	-0.5864	10	0.34782	T	0.22	-16.3676	14.7037	0.69174	0.0:0.0:1.0:0.0	.	258	O95390	GDF11_HUMAN	K	258	ENSP00000257868:E258K	ENSP00000257868:E258K	E	+	1	0	GDF11	54428963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.427000	0.82271	0.555000	0.69702	GAG		0.612	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3		
DNAJC14	85406	broad.mit.edu	37	12	56221763	56221763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56221763C>T	ENST00000357606.3	-	3	969	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R227Q|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R227Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	227					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R227Q(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGCCTGACTTCGTTTCCGACC	0.587																																					p.R227Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	12						.						59.0	55.0	57.0					12																	56221763		2203	4300	6503	54508030	SO:0001583	missense	85406	exon2			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.680G>A	12.37:g.56221763C>T	ENSP00000350223:p.Arg227Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54508030	NM_032364	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586874	0.46110	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.38560	1.13;1.13;1.13	5.17	3.35	0.38373	.	0.592892	0.16357	N	0.217954	T	0.24431	0.0592	N	0.19112	0.55	0.26285	N	0.978211	B;B	0.17852	0.024;0.024	B;B	0.08055	0.003;0.003	T	0.17440	-1.0369	9	.	.	.	-5.9443	7.557	0.27829	0.0:0.7358:0.0:0.2642	.	227;227	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	Q	227	ENSP00000350223:R227Q;ENSP00000316240:R227Q;ENSP00000317500:R227Q	.	R	-	2	0	DNAJC14	54508030	0.946000	0.32159	0.708000	0.30435	0.230000	0.25150	3.016000	0.49607	0.691000	0.31592	-0.142000	0.14014	CGA		0.587	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364	
ERBB3	2065	broad.mit.edu	37	12	56482437	56482437	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56482437A>G	ENST00000267101.3	+	8	1425	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E	ERBB3_ENST00000415288.2_Missense_Mutation_p.K270E|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	329					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.K329E(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACTATGTCCCAAAGGTGGGTA	0.512																																					p.K329E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A985G	12						.						116.0	116.0	116.0					12																	56482437		2203	4300	6503	54768704	SO:0001583	missense	2065	exon8			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.985A>G	12.37:g.56482437A>G	ENSP00000267101:p.Lys329Glu	Somatic		Capture	Illumina HiSeq	Phase_I	54768704	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161617	0.94727	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.50001	0.76;0.76	5.41	5.41	0.78517	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000002	T	0.74612	0.3739	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.85130	0.997;0.89	T	0.80493	-0.1358	10	0.62326	D	0.03	.	14.566	0.68176	1.0:0.0:0.0:0.0	.	9;329	O75810;P21860	.;ERBB3_HUMAN	E	329;329;270	ENSP00000267101:K329E;ENSP00000408340:K270E	ENSP00000267101:K329E	K	+	1	0	ERBB3	54768704	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	8.685000	0.91246	2.272000	0.75746	0.460000	0.39030	AAA		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
NABP2	79035	broad.mit.edu	37	12	56619491	56619491	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56619491C>A	ENST00000380198.2	+	3	788				NABP2_ENST00000267023.4_Intron|NABP2_ENST00000341463.5_Intron			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TAAGTGCTGTCTTGGGGATTG	0.483																																					.												.	.	0			.	12						.						132.0	125.0	127.0					12																	56619491		2203	4300	6503	54905758	SO:0001627	intron_variant	79035	.			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.290+12C>A	12.37:g.56619491C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54905758	.	A6NDF8|Q6XYC8	Intron	SNP	ENST00000380198.2	37	CCDS8911.1																																																																																				0.483	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068	
ANKRD52	283373	broad.mit.edu	37	12	56647539	56647539	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56647539G>A	ENST00000267116.7	-	9	1073	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	318								p.R318C(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGTGTGAAACGGCCATGGATT	0.478																																					p.R318C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C952T	12						.						115.0	125.0	122.0					12																	56647539		1935	4137	6072	54933806	SO:0001583	missense	283373	exon9			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.952C>T	12.37:g.56647539G>A	ENSP00000267116:p.Arg318Cys	Somatic		Capture	Illumina HiSeq	Phase_I	54933806	NM_173595	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254032	0.80135	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65732	-0.17	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72959	-0.4133	10	0.87932	D	0	.	11.9303	0.52843	0.0:0.0:0.8259:0.1741	.	318	Q8NB46	ANR52_HUMAN	C	318	ENSP00000267116:R318C	ENSP00000267116:R318C	R	-	1	0	ANKRD52	54933806	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	1.691000	0.37721	2.553000	0.86117	0.655000	0.94253	CGT		0.478	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
ANKRD52	283373	broad.mit.edu	37	12	56648021	56648021	+	Missense_Mutation	SNP	C	C	T	rs202238056		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56648021C>T	ENST00000267116.7	-	8	857	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	246								p.A246T(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGTAGCAGGCGATGTGCAAA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		22090	0.0		0.0	False		,,,				2504	0.001				p.A246T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736A	12						.	C	THR/ALA	0,4220		0,0,2110	187.0	203.0	197.0		736	4.6	1.0	12		197	8,8468		0,8,4230	yes	missense	ANKRD52	NM_173595.3	58	0,8,6340	TT,TC,CC		0.0944,0.0,0.063	probably-damaging	246/1077	56648021	8,12688	2110	4238	6348	54934288	SO:0001583	missense	283373	exon8			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.736G>A	12.37:g.56648021C>T	ENSP00000267116:p.Ala246Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54934288	NM_173595	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518589	0.96416	0.0	9.44E-4	ENSG00000139645	ENST00000267116;ENST00000417002	D	0.94457	-3.43	4.59	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97923	0.9317	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98905	1.0778	10	0.87932	D	0	.	16.7094	0.85381	0.0:1.0:0.0:0.0	.	246	Q8NB46	ANR52_HUMAN	T	246	ENSP00000267116:A246T	ENSP00000267116:A246T	A	-	1	0	ANKRD52	54934288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.548000	0.85928	0.591000	0.81541	GCC		0.512	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
ANKRD52	283373	broad.mit.edu	37	12	56648438	56648438	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56648438C>T	ENST00000267116.7	-	7	738	c.617G>A	c.(616-618)gGc>gAc	p.G206D		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	206								p.G206D(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAGCCCATAGCCCTTGCGGTC	0.567																																					p.G206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G617A	12						.						37.0	38.0	38.0					12																	56648438		2012	4200	6212	54934705	SO:0001583	missense	283373	exon7			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.617G>A	12.37:g.56648438C>T	ENSP00000267116:p.Gly206Asp	Somatic		Capture	Illumina HiSeq	Phase_I	54934705	NM_173595	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320610	0.95682	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.73575	-0.76	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	D	0.85493	0.1186	10	0.56958	D	0.05	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	206	Q8NB46	ANR52_HUMAN	D	206	ENSP00000267116:G206D	ENSP00000267116:G206D	G	-	2	0	ANKRD52	54934705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.688000	0.91661	0.655000	0.94253	GGC		0.567	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
CS	1431	broad.mit.edu	37	12	56669950	56669950	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56669950G>A	ENST00000351328.3	-	7	808	c.618C>T	c.(616-618)atC>atT	p.I206I	CS_ENST00000548567.1_Silent_p.I140I|CS_ENST00000542324.2_Silent_p.I193I	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	206					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.I206I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GTAGCTTTGCGATTAGATCCA	0.423																																					p.I206I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	12						.						85.0	78.0	81.0					12																	56669950		2203	4300	6503	54956217	SO:0001819	synonymous_variant	1431	exon7				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.618C>T	12.37:g.56669950G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54956217	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	CCDS8913.1																																																																																				0.423	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077	
TIMELESS	8914	broad.mit.edu	37	12	56816760	56816760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56816760G>A	ENST00000553532.1	-	19	2459	c.2309C>T	c.(2308-2310)gCc>gTc	p.A770V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.A769V					timeless circadian clock									p.A770V(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GATGTATTTGGCAAAAGTCAC	0.483																																					p.A770V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2309T	12						.						81.0	86.0	85.0					12																	56816760		2203	4300	6503	55103027	SO:0001583	missense	8914	exon19			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2309C>T	12.37:g.56816760G>A	ENSP00000450607:p.Ala770Val	Somatic		Capture	Illumina HiSeq	Phase_I	55103027	NM_003920		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686826	0.88639	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.10382	2.88;2.88	5.59	4.69	0.59074	Timeless C-terminal (1);	0.107189	0.64402	D	0.000007	T	0.28732	0.0712	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.01956	-1.1240	10	0.29301	T	0.29	-7.7505	15.7467	0.77949	0.0:0.1373:0.8627:0.0	.	770	Q9UNS1	TIM_HUMAN	V	769;770	ENSP00000229201:A769V;ENSP00000450607:A770V	ENSP00000229201:A770V	A	-	2	0	TIMELESS	55103027	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.271000	0.78506	1.493000	0.48517	-0.176000	0.13171	GCC		0.483	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
BAZ2A	11176	broad.mit.edu	37	12	56993605	56993605	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56993605T>C	ENST00000551812.1	-	26	5252	c.5059A>G	c.(5059-5061)Aat>Gat	p.N1687D	BAZ2A_ENST00000549884.1_Missense_Mutation_p.N1685D|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.N1655D|BAZ2A_ENST00000379441.3_Missense_Mutation_p.N1657D	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1687					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N1687D(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AACTCATCATTGTCACCCTTC	0.562																																					p.N1687D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5059G	12						.						84.0	86.0	86.0					12																	56993605		2081	4216	6297	55279872	SO:0001583	missense	11176	exon26			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5059A>G	12.37:g.56993605T>C	ENSP00000446880:p.Asn1687Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55279872	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754752	0.69648	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.01	5.01	0.66863	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.106357	0.64402	D	0.000012	T	0.75554	0.3865	N	0.20328	0.56	0.46874	D	0.999233	B;B;B;B	0.32693	0.028;0.097;0.119;0.38	B;B;B;B	0.30316	0.015;0.061;0.1;0.114	T	0.73173	-0.4066	10	0.29301	T	0.29	-5.7883	9.5045	0.39037	0.0:0.0853:0.0:0.9147	.	1685;1683;1687;1660	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	D	1657;1655;1687;619;1685	ENSP00000368754:N1657D;ENSP00000179765:N1655D;ENSP00000446880:N1687D;ENSP00000448760:N619D;ENSP00000447941:N1685D	ENSP00000179765:N1655D	N	-	1	0	BAZ2A	55279872	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.290000	0.43531	2.177000	0.69029	0.533000	0.62120	AAT		0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	broad.mit.edu	37	12	56993854	56993854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:56993854C>T	ENST00000551812.1	-	25	5118	c.4925G>A	c.(4924-4926)cGt>cAt	p.R1642H	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1640H|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1610H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1612H	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1642					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1642H(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCGCCAGACACGAATGCGAGG	0.572																																					p.R1642H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4925A	12						.						81.0	82.0	82.0					12																	56993854		2002	4179	6181	55280121	SO:0001583	missense	11176	exon25			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4925G>A	12.37:g.56993854C>T	ENSP00000446880:p.Arg1642His	Somatic		Capture	Illumina HiSeq	Phase_I	55280121	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051212	0.93740	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72167	-0.37;-0.37;-0.39;-0.63;-0.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.47716	1.5	0.80722	D	1	D;P;P;D	0.89917	1.0;0.931;0.82;1.0	D;P;P;D	0.91635	0.997;0.661;0.459;0.999	T	0.80876	-0.1186	10	0.56958	D	0.05	-14.6921	18.5763	0.91155	0.0:1.0:0.0:0.0	.	1640;1638;1642;1615	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	H	1612;1610;1642;574;1640	ENSP00000368754:R1612H;ENSP00000179765:R1610H;ENSP00000446880:R1642H;ENSP00000448760:R574H;ENSP00000447941:R1640H	ENSP00000179765:R1610H	R	-	2	0	BAZ2A	55280121	1.000000	0.71417	0.962000	0.40283	0.989000	0.77384	5.568000	0.67385	2.763000	0.94921	0.650000	0.86243	CGT		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	broad.mit.edu	37	12	57009038	57009038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57009038C>A	ENST00000551812.1	-	3	689	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E164*|BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.E164*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E166*	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	166					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E166*(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCATACAGTTCTTGTGAATCA	0.493																																					p.E166X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G496T	12						.						59.0	59.0	59.0					12																	57009038		1882	4117	5999	55295305	SO:0001587	stop_gained	11176	exon3			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.496G>T	12.37:g.57009038C>A	ENSP00000446880:p.Glu166*	Somatic		Capture	Illumina HiSeq	Phase_I	55295305	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557369	0.86231	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.	.	.	4.75	4.75	0.60458	.	0.474209	0.22527	N	0.058886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.1505	0.72692	0.0:1.0:0.0:0.0	.	.	.	.	X	166;164;166;164	.	ENSP00000179765:E164X	E	-	1	0	BAZ2A	55295305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.463000	0.45058	2.631000	0.89168	0.655000	0.94253	GAA		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
MYO1A	4640	broad.mit.edu	37	12	57430591	57430591	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57430591C>T	ENST00000442789.2	-	22	2526	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	MYO1A_ENST00000544473.1_Missense_Mutation_p.V585M|MYO1A_ENST00000300119.3_Missense_Mutation_p.V747M|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	747	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V747M(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATCAATAACACGGATGCCTTT	0.448																																					p.V747M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2239A	12						.						300.0	275.0	283.0					12																	57430591		2203	4300	6503	55716858	SO:0001583	missense	4640	exon21			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2239G>A	12.37:g.57430591C>T	ENSP00000393392:p.Val747Met	Somatic		Capture	Illumina HiSeq	Phase_I	55716858	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418372	0.62622	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.27720	1.65;1.65;1.65	5.54	-1.53	0.08611	.	0.458050	0.24185	N	0.040772	T	0.32010	0.0815	L	0.52573	1.65	0.09310	N	1	P	0.47409	0.895	P	0.48921	0.595	T	0.30707	-0.9969	10	0.62326	D	0.03	.	11.0592	0.47938	0.0:0.4929:0.0:0.5071	.	747	Q9UBC5	MYO1A_HUMAN	M	747;747;585	ENSP00000300119:V747M;ENSP00000393392:V747M;ENSP00000440514:V585M	ENSP00000300119:V747M	V	-	1	0	MYO1A	55716858	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-0.258000	0.08733	-0.190000	0.10465	-0.251000	0.11542	GTG		0.448	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
MYO1A	4640	broad.mit.edu	37	12	57430765	57430765	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57430765C>A	ENST00000442789.2	-	21	2453	c.2166G>T	c.(2164-2166)aaG>aaT	p.K722N	MYO1A_ENST00000544473.1_Missense_Mutation_p.K560N|MYO1A_ENST00000300119.3_Missense_Mutation_p.K722N|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	722	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K722N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGATCTGACTCTTTCGCATCA	0.537																																					p.K722N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2166T	12						.						122.0	118.0	119.0					12																	57430765		2203	4300	6503	55717032	SO:0001583	missense	4640	exon20			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2166G>T	12.37:g.57430765C>A	ENSP00000393392:p.Lys722Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55717032	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998078	0.35226	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87571	-2.2;-2.2;-2.27	5.46	3.3	0.37823	.	0.103386	0.64402	D	0.000006	D	0.82637	0.5080	L	0.34521	1.04	0.45515	D	0.998474	P	0.34462	0.454	B	0.42959	0.403	T	0.78311	-0.2253	10	0.28530	T	0.3	.	10.7649	0.46288	0.0:0.821:0.0:0.179	.	722	Q9UBC5	MYO1A_HUMAN	N	722;722;560	ENSP00000300119:K722N;ENSP00000393392:K722N;ENSP00000440514:K560N	ENSP00000300119:K722N	K	-	3	2	MYO1A	55717032	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	0.605000	0.24179	1.317000	0.45149	0.563000	0.77884	AAG		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
MYO1A	4640	broad.mit.edu	37	12	57433007	57433007	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57433007G>A	ENST00000442789.2	-	16	1608	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	MYO1A_ENST00000544473.1_Missense_Mutation_p.L279F|MYO1A_ENST00000300119.3_Missense_Mutation_p.L441F|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	441	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L441F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCTCAATGAGCTTACAAATG	0.493																																					p.L441F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1321T	12						.						175.0	125.0	142.0					12																	57433007		2203	4300	6503	55719274	SO:0001583	missense	4640	exon15			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1321C>T	12.37:g.57433007G>A	ENSP00000393392:p.Leu441Phe	Somatic		Capture	Illumina HiSeq	Phase_I	55719274	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584156	0.86748	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.94417	-3.42;-3.42;-3.42	4.71	4.71	0.59529	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97291	3.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98628	1.0670	10	0.87932	D	0	.	13.3612	0.60657	0.0:0.0:1.0:0.0	.	441	Q9UBC5	MYO1A_HUMAN	F	441;441;279	ENSP00000300119:L441F;ENSP00000393392:L441F;ENSP00000440514:L279F	ENSP00000300119:L441F	L	-	1	0	MYO1A	55719274	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.929000	0.56514	2.627000	0.88993	0.561000	0.74099	CTC		0.493	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
STAT6	6778	broad.mit.edu	37	12	57500575	57500575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57500575C>A	ENST00000300134.3	-	5	704	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	STAT6_ENST00000538913.2_Nonsense_Mutation_p.E17*|STAT6_ENST00000454075.3_Nonsense_Mutation_p.E127*|STAT6_ENST00000556155.1_Nonsense_Mutation_p.E127*|STAT6_ENST00000543873.2_Nonsense_Mutation_p.E127*|STAT6_ENST00000537215.2_Nonsense_Mutation_p.E17*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	127					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E127*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AACTTGAGTTCTTCCTGCTTC	0.562																																					p.E127X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G379T	12						.						66.0	65.0	65.0					12																	57500575		2203	4300	6503	55786842	SO:0001587	stop_gained	6778	exon5			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.379G>T	12.37:g.57500575C>A	ENSP00000300134:p.Glu127*	Somatic		Capture	Illumina HiSeq	Phase_I	55786842	NM_001178078	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Nonsense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139663	0.94560	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397	.	.	.	5.28	5.28	0.74379	.	0.274240	0.34507	N	0.003920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-13.2554	16.4155	0.83732	0.0:1.0:0.0:0.0	.	.	.	.	X	127;17;17;127;127;17;127;17;127;127;109;127;127	.	ENSP00000300134:E127X	E	-	1	0	STAT6	55786842	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.821000	0.62679	2.462000	0.83206	0.655000	0.94253	GAA		0.562	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153	
LRP1	4035	broad.mit.edu	37	12	57538864	57538864	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57538864C>A	ENST00000243077.3	+	5	1024	c.558C>A	c.(556-558)cgC>cgA	p.R186R	LRP1_ENST00000553277.1_Silent_p.R186R|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Silent_p.R186R|LRP1_ENST00000554174.1_Silent_p.R186R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	186	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R186R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGATAACCGCTCCTGCAAGG	0.592																																					p.R186R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558A	12						.						57.0	50.0	53.0					12																	57538864		2203	4300	6503	55825131	SO:0001819	synonymous_variant	4035	exon5			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.558C>A	12.37:g.57538864C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55825131	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	broad.mit.edu	37	12	57567630	57567630	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57567630G>T	ENST00000243077.3	+	22	3880	c.3414G>T	c.(3412-3414)gaG>gaT	p.E1138D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1138	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E1138D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGAGGAGAACTGCGAGT	0.607																																					p.E1138D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3414T	12						.						207.0	156.0	173.0					12																	57567630		2203	4300	6503	55853897	SO:0001583	missense	4035	exon22			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3414G>T	12.37:g.57567630G>T	ENSP00000243077:p.Glu1138Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55853897	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749596	0.30955	.	.	ENSG00000123384	ENST00000243077	D	0.95724	-3.79	5.03	4.12	0.48240	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.148380	0.41605	D	0.000858	D	0.89483	0.6728	L	0.31065	0.9	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.82444	-0.0454	10	0.14252	T	0.57	.	7.8332	0.29355	0.085:0.0:0.7508:0.1642	.	1138	Q07954	LRP1_HUMAN	D	1138	ENSP00000243077:E1138D	ENSP00000243077:E1138D	E	+	3	2	LRP1	55853897	0.998000	0.40836	1.000000	0.80357	0.801000	0.45260	0.414000	0.21164	1.287000	0.44583	0.491000	0.48974	GAG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	broad.mit.edu	37	12	57569386	57569386	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57569386C>A	ENST00000243077.3	+	23	4157	c.3691C>A	c.(3691-3693)Ctc>Atc	p.L1231I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1231	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.L1231I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCAAGCATCTCAAATGCAG	0.602											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L1231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3691A	12						.						139.0	120.0	127.0					12																	57569386		2203	4300	6503	55855653	SO:0001583	missense	4035	exon23			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3691C>A	12.37:g.57569386C>A	ENSP00000243077:p.Leu1231Ile	Somatic	1024	Capture	Illumina HiSeq	Phase_I	55855653	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078625	0.76528	.	.	ENSG00000123384	ENST00000243077	D	0.90133	-2.62	4.87	4.87	0.63330	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000014	D	0.93687	0.7983	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.91465	0.5192	10	0.21014	T	0.42	.	16.9477	0.86233	0.0:1.0:0.0:0.0	.	1231	Q07954	LRP1_HUMAN	I	1231	ENSP00000243077:L1231I	ENSP00000243077:L1231I	L	+	1	0	LRP1	55855653	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.648000	0.83479	2.537000	0.85549	0.655000	0.94253	CTC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	broad.mit.edu	37	12	57579532	57579532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57579532G>A	ENST00000243077.3	+	41	7148	c.6682G>A	c.(6682-6684)Gag>Aag	p.E2228K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2228					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E2228K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGCCCTTCGAGGACCCTGA	0.602																																					p.E2228K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6682A	12						.						117.0	98.0	104.0					12																	57579532		2203	4300	6503	55865799	SO:0001583	missense	4035	exon41			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6682G>A	12.37:g.57579532G>A	ENSP00000243077:p.Glu2228Lys	Somatic		Capture	Illumina HiSeq	Phase_I	55865799	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633076	0.87660	.	.	ENSG00000123384	ENST00000243077	D	0.90197	-2.63	4.89	4.89	0.63831	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.83562	0.5281	L	0.48362	1.52	0.80722	D	1	P	0.42556	0.783	B	0.27887	0.084	T	0.83281	-0.0038	10	0.11182	T	0.66	.	16.8284	0.85937	0.0:0.0:1.0:0.0	.	2228	Q07954	LRP1_HUMAN	K	2228	ENSP00000243077:E2228K	ENSP00000243077:E2228K	E	+	1	0	LRP1	55865799	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.869000	0.99810	2.252000	0.74401	0.491000	0.48974	GAG		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
INHBC	3626	broad.mit.edu	37	12	57828968	57828968	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57828968G>A	ENST00000309668.2	+	1	426	c.299G>A	c.(298-300)aGc>aAc	p.S100N	RP11-756H6.1_ENST00000547552.1_lincRNA	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	100					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.S100N(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GAAATCATCAGCTTTGCTGAG	0.537																																					p.S100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	12						.						36.0	28.0	31.0					12																	57828968		2203	4300	6503	56115235	SO:0001583	missense	3626	exon1				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.299G>A	12.37:g.57828968G>A	ENSP00000308716:p.Ser100Asn	Somatic		Capture	Illumina HiSeq	Phase_I	56115235	NM_005538	A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679736	0.68042	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.72615	-0.67;-0.67	4.63	3.72	0.42706	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.79693	2.465	0.43647	D	0.99605	D	0.54964	0.969	P	0.55391	0.775	T	0.81955	-0.0696	10	0.52906	T	0.07	-21.5997	12.7195	0.57134	0.0:0.1672:0.8328:0.0	.	100	P55103	INHBC_HUMAN	N	100	ENSP00000449889:S100N;ENSP00000308716:S100N	ENSP00000308716:S100N	S	+	2	0	INHBC	56115235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.380000	0.52448	1.274000	0.44362	0.563000	0.77884	AGC		0.537	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538	
GLI1	2735	broad.mit.edu	37	12	57857571	57857571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57857571G>T	ENST00000228682.2	+	2	188	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	GLI1_ENST00000546141.1_Nonsense_Mutation_p.E33*|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	33					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.E33*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTGGGGACAGAAGGTCAGTG	0.597																																					p.E33X	Pancreas(157;841 1936 10503 41495 50368)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G97T	12						.						45.0	44.0	45.0					12																	57857571		2203	4300	6503	56143838	SO:0001587	stop_gained	2735	exon2				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.97G>T	12.37:g.57857571G>T	ENSP00000228682:p.Glu33*	Somatic		Capture	Illumina HiSeq	Phase_I	56143838	NM_005269	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759217	0.89843	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	.	.	.	4.42	4.42	0.53409	.	0.125625	0.35739	N	0.003011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.4109	0.67115	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000228682:E33X	E	+	1	0	GLI1	56143838	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	3.146000	0.50631	2.449000	0.82847	0.650000	0.86243	GAA		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
MARS	4141	broad.mit.edu	37	12	57882859	57882859	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57882859G>A	ENST00000262027.5	+	2	301	c.167G>A	c.(166-168)gGc>gAc	p.G56D	MARS_ENST00000447721.2_Intron|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	56					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.G56D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGATAGCGGCAACTACCTC	0.488																																					p.G56D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	12						.						138.0	115.0	123.0					12																	57882859		2203	4300	6503	56169126	SO:0001583	missense	4141	exon2			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.167G>A	12.37:g.57882859G>A	ENSP00000262027:p.Gly56Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56169126	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820246	0.71028	.	.	ENSG00000166986	ENST00000262027	T	0.76709	-1.04	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.69358	2.11	0.80722	D	1	B	0.25772	0.134	B	0.35039	0.194	T	0.79736	-0.1678	10	0.66056	D	0.02	-15.4809	15.9214	0.79580	0.0:0.0:1.0:0.0	.	56	P56192	SYMC_HUMAN	D	56	ENSP00000262027:G56D	ENSP00000262027:G56D	G	+	2	0	MARS	56169126	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.729000	0.68538	2.533000	0.85409	0.563000	0.77884	GGC		0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
MARS	4141	broad.mit.edu	37	12	57906753	57906753	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57906753A>T	ENST00000262027.5	+	15	2101				RNU6-594P_ENST00000517056.1_RNA|RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase						gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AACAGGTAGGACTTGGTAAGG	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						73.0	70.0	71.0					12																	57906753		2203	4300	6503	56193020	SO:0001627	intron_variant	4141	.			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1967+6A>T	12.37:g.57906753A>T		Somatic		Capture	Illumina HiSeq	Phase_I	56193020	.	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Intron	SNP	ENST00000262027.5	37	CCDS8942.1																																																																																				0.537	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
MBD6	114785	broad.mit.edu	37	12	57921362	57921362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57921362G>A	ENST00000355673.3	+	8	2511	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	MBD6_ENST00000431731.2_Missense_Mutation_p.A719T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	719	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A719T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGACCCGGGGGCCTCCTCTCT	0.602																																					p.A719T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2155A	12						.						80.0	90.0	87.0					12																	57921362		2203	4300	6503	56207629	SO:0001583	missense	114785	exon8			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2155G>A	12.37:g.57921362G>A	ENSP00000347896:p.Ala719Thr	Somatic		Capture	Illumina HiSeq	Phase_I	56207629	NM_052897	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840658	0.51057	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.66	4.66	0.58398	.	0.398990	0.21216	N	0.078230	T	0.41396	0.1157	N	0.08118	0	0.33677	D	0.611663	D;D	0.61697	0.99;0.99	P;P	0.56127	0.792;0.719	T	0.50591	-0.8810	9	0.29301	T	0.29	-5.8007	14.9564	0.71116	0.0:0.0:1.0:0.0	.	719;719	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	719;719;183	.	ENSP00000300263:A183T	A	+	1	0	MBD6	56207629	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.214000	0.51161	2.599000	0.87857	0.549000	0.68633	GCC		0.602	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		
KIF5A	3798	broad.mit.edu	37	12	57944170	57944170	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57944170G>T	ENST00000455537.2	+	1	390	c.116G>T	c.(115-117)aGc>aTc	p.S39I	KIF5A_ENST00000286452.5_Missense_Mutation_p.S39I	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	39	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.S39I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGGGACGACAGCGTCGTTATT	0.607																																					p.S39I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G116T	12						.						70.0	63.0	65.0					12																	57944170		2203	4300	6503	56230437	SO:0001583	missense	3798	exon1			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.116G>T	12.37:g.57944170G>T	ENSP00000408979:p.Ser39Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56230437	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935422	0.52866	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.75821	-0.59;-0.97	3.92	3.03	0.35002	Kinesin, motor domain (3);	0.233078	0.44285	D	0.000479	T	0.66761	0.2822	L	0.42245	1.32	0.20074	N	0.999937	B;B	0.33318	0.408;0.046	B;B	0.39771	0.309;0.063	T	0.61831	-0.6982	10	0.72032	D	0.01	.	6.2911	0.21061	0.1032:0.3004:0.5964:0.0	.	39;39	B7Z2M7;Q12840	.;KIF5A_HUMAN	I	39	ENSP00000408979:S39I;ENSP00000286452:S39I	ENSP00000286452:S39I	S	+	2	0	KIF5A	56230437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.291000	0.51764	1.256000	0.44068	0.645000	0.84053	AGC		0.607	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
KIF5A	3798	broad.mit.edu	37	12	57962833	57962833	+	Missense_Mutation	SNP	G	G	A	rs139015012	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57962833G>A	ENST00000455537.2	+	9	1076	c.802G>A	c.(802-804)Gca>Aca	p.A268T	KIF5A_ENST00000286452.5_Missense_Mutation_p.A179T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	268	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A268T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTGATCTCCGCACTGGCTGA	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		17460	0.002		0.0	False		,,,				2504	0.0				p.A268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	12						.	G	THR/ALA	0,4406		0,0,2203	169.0	119.0	136.0		802	4.2	0.1	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIF5A	NM_004984.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	268/1033	57962833	1,13005	2203	4300	6503	56249100	SO:0001583	missense	3798	exon9			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.802G>A	12.37:g.57962833G>A	ENSP00000408979:p.Ala268Thr	Somatic		Capture	Illumina HiSeq	Phase_I	56249100	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	21.8	4.202114	0.79127	0.0	1.16E-4	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.77620	-1.11;-1.11	4.23	4.23	0.50019	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91875	0.5511	10	0.66056	D	0.02	.	15.9283	0.79639	0.0:0.0:1.0:0.0	.	179;268	B7Z2M7;Q12840	.;KIF5A_HUMAN	T	268;179	ENSP00000408979:A268T;ENSP00000286452:A179T	ENSP00000286452:A179T	A	+	1	0	KIF5A	56249100	1.000000	0.71417	0.140000	0.22221	0.878000	0.50629	9.384000	0.97219	2.362000	0.80069	0.555000	0.69702	GCA		0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
PIP4K2C	79837	broad.mit.edu	37	12	57992945	57992945	+	Missense_Mutation	SNP	G	G	A	rs140234878		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:57992945G>A	ENST00000354947.5	+	5	627	c.611G>A	c.(610-612)cGc>cAc	p.R204H	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R204H|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R186H|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R156H			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	204	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.R204H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTTGTGATGCGCAATATGTTT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		22546	0.0		0.001	False		,,,				2504	0.0				p.R204H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G611A	12						.						162.0	126.0	138.0					12																	57992945		2203	4300	6503	56279212	SO:0001583	missense	79837	exon5			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.611G>A	12.37:g.57992945G>A	ENSP00000347032:p.Arg204His	Somatic		Capture	Illumina HiSeq	Phase_I	56279212	NM_001146258	B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	CCDS8946.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	32|32	5.168511|5.168511	0.94768|0.94768	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000436866;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.39|5.39	4.48|4.48	0.54585|0.54585	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.985;0.978;0.996	T|T	0.71968|0.71968	-0.4432|-0.4432	5|10	.|0.72032	.|D	.|0.01	-11.6468|-11.6468	14.547|14.547	0.68038|0.68038	0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479	.|.	.|156;186;204	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	T|H	25|156;204;204;186;204	.|ENSP00000412035:R156H;ENSP00000439878:R204H;ENSP00000447390:R186H;ENSP00000347032:R204H	.|ENSP00000347032:R204H	A|R	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56279212|56279212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.386000|9.386000	0.97228|0.97228	1.382000|1.382000	0.46385|0.46385	0.455000|0.455000	0.32223|0.32223	GCA|CGC		0.512	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
XRCC6BP1	91419	broad.mit.edu	37	12	58345601	58345601	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:58345601G>A	ENST00000300145.3	+	4	501	c.376G>A	c.(376-378)Gag>Aag	p.E126K	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	126					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E126K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GGTCACACACGAGCTTATTCA	0.398																																					p.E126K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	12						.						225.0	214.0	217.0					12																	58345601		1936	4132	6068	56631868	SO:0001583	missense	91419	exon4			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.376G>A	12.37:g.58345601G>A	ENSP00000300145:p.Glu126Lys	Somatic		Capture	Illumina HiSeq	Phase_I	56631868	NM_033276	Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833052	0.97003	.	.	ENSG00000166896	ENST00000300145	T	0.69926	-0.44	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91267	0.5041	10	0.87932	D	0	.	19.1673	0.93562	0.0:0.0:1.0:0.0	.	126	Q9Y6H3	ATP23_HUMAN	K	126	ENSP00000300145:E126K	ENSP00000300145:E126K	E	+	1	0	XRCC6BP1	56631868	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.622000	0.98378	2.606000	0.88127	0.650000	0.86243	GAG		0.398	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276	
XRCC6BP1	91419	broad.mit.edu	37	12	58347413	58347413	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:58347413G>T	ENST00000300145.3	+	5	603	c.478G>T	c.(478-480)Gac>Tac	p.D160Y	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	160					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D160Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCTTAGTGGAGACTGCTCACT	0.343																																					p.D160Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478T	12						.						164.0	142.0	149.0					12																	58347413		1838	4111	5949	56633680	SO:0001583	missense	91419	exon5			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.478G>T	12.37:g.58347413G>T	ENSP00000300145:p.Asp160Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56633680	NM_033276	Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777186	0.90195	.	.	ENSG00000166896	ENST00000300145	T	0.49720	0.77	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.81897	-0.0722	10	0.72032	D	0.01	.	19.1156	0.93338	0.0:0.0:1.0:0.0	.	160	Q9Y6H3	ATP23_HUMAN	Y	160	ENSP00000300145:D160Y	ENSP00000300145:D160Y	D	+	1	0	XRCC6BP1	56633680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.226000	0.95229	2.594000	0.87642	0.563000	0.77884	GAC		0.343	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276	
LRIG3	121227	broad.mit.edu	37	12	59268054	59268054	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:59268054C>A	ENST00000320743.3	-	18	3184	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K906N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	966					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K966N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTCCTTTTTCTTTATGTAAC	0.428			T	ROS1	NSCLC																																p.K966N			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2898T	12						.						109.0	105.0	106.0					12																	59268054		2203	4300	6503	57554321	SO:0001583	missense	121227	exon18			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2898G>T	12.37:g.59268054C>A	ENSP00000326759:p.Lys966Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57554321	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.403|9.403	1.078490|1.078490	0.20227|0.20227	.|.	.|.	ENSG00000139263|ENSG00000139263	ENST00000550825|ENST00000379141;ENST00000320743	.|T;T	.|0.63744	.|-0.01;-0.06	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.247643	.|0.20973	.|N	.|0.082345	.|T	.|0.61160	.|0.2325	M|M	0.65498|0.65498	2.005|2.005	0.25583|0.25583	N|N	0.986776|0.986776	.|P;P	.|0.39665	.|0.59;0.682	.|B;B	.|0.38954	.|0.286;0.205	.|T	.|0.60969	.|-0.7157	.|9	.|.	.|.	.|.	.|.	12.6028|12.6028	0.56506|0.56506	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|906;966	.|Q6UXM1-2;Q6UXM1	.|.;LRIG3_HUMAN	X|N	68|906;966	.|ENSP00000368436:K906N;ENSP00000326759:K966N	.|.	E|K	-|-	1|3	0|2	LRIG3|LRIG3	57554321|57554321	1.000000|1.000000	0.71417|0.71417	0.314000|0.314000	0.25224|0.25224	0.011000|0.011000	0.07611|0.07611	2.775000|2.775000	0.47702|0.47702	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
LRIG3	121227	broad.mit.edu	37	12	59281576	59281576	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:59281576C>A	ENST00000320743.3	-	8	1372	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K302N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	362					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K362N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTTACAAAGTCTTTAAACTGG	0.423			T	ROS1	NSCLC																																p.K362N			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1086T	12						.						111.0	117.0	115.0					12																	59281576		2203	4300	6503	57567843	SO:0001583	missense	121227	exon8			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1086G>T	12.37:g.59281576C>A	ENSP00000326759:p.Lys362Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57567843	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566173	0.27915	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.58940	0.3;0.3	5.86	4.98	0.66077	.	0.000000	0.38897	N	0.001539	T	0.48786	0.1519	L	0.54863	1.705	0.37579	D	0.919743	B;B	0.11235	0.001;0.004	B;B	0.14578	0.005;0.011	T	0.49679	-0.8914	9	.	.	.	.	7.9796	0.30175	0.0:0.7292:0.1323:0.1385	.	302;362	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	302;362	ENSP00000368436:K302N;ENSP00000326759:K362N	.	K	-	3	2	LRIG3	57567843	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.194000	0.32174	1.628000	0.50416	-0.145000	0.13849	AAG		0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
LRIG3	121227	broad.mit.edu	37	12	59282227	59282227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:59282227C>A	ENST00000320743.3	-	7	1117	c.831G>T	c.(829-831)gaG>gaT	p.E277D	LRIG3_ENST00000379141.4_Missense_Mutation_p.E217D	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	277					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E277D(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTTTGGTAATCTCTGTTAGGT	0.448			T	ROS1	NSCLC																																p.E277D			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G831T	12						.						111.0	96.0	101.0					12																	59282227		2203	4300	6503	57568494	SO:0001583	missense	121227	exon7			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.831G>T	12.37:g.59282227C>A	ENSP00000326759:p.Glu277Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57568494	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768159	0.49680	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.23754	1.89;1.89	5.86	4.98	0.66077	.	0.000000	0.37530	N	0.002055	T	0.39384	0.1076	L	0.45137	1.4	0.54753	D	0.999986	B;D	0.76494	0.182;0.999	B;D	0.69307	0.18;0.963	T	0.10019	-1.0648	9	.	.	.	.	11.5145	0.50513	0.0:0.8626:0.0:0.1374	.	217;277	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	D	217;277	ENSP00000368436:E217D;ENSP00000326759:E277D	.	E	-	3	2	LRIG3	57568494	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.670000	0.46833	1.622000	0.50330	0.650000	0.86243	GAG		0.448	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
SLC16A7	9194	broad.mit.edu	37	12	60169249	60169249	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:60169249T>C	ENST00000261187.4	+	4	1337	c.1173T>C	c.(1171-1173)ccT>ccC	p.P391P	SLC16A7_ENST00000552432.1_Silent_p.P391P|SLC16A7_ENST00000547379.1_Silent_p.P391P|SLC16A7_ENST00000543448.1_Silent_p.P292P|SLC16A7_ENST00000552024.1_Silent_p.P391P	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	391					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.P391P(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTGGCCCTCCTCTTGCAGGTA	0.398																																					p.P391P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1173C	12						.						70.0	66.0	68.0					12																	60169249		2203	4300	6503	58455516	SO:0001819	synonymous_variant	9194	exon4			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1173T>C	12.37:g.60169249T>C		Somatic		Capture	Illumina HiSeq	Phase_I	58455516	NM_004731	Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	CCDS8961.1																																																																																				0.398	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
SLC16A7	9194	broad.mit.edu	37	12	60173227	60173227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:60173227G>T	ENST00000261187.4	+	5	1368	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E402*|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E402*|SLC16A7_ENST00000543448.1_Nonsense_Mutation_p.E303*|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E402*	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343																																					p.E402X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1204T	12						.						63.0	62.0	62.0					12																	60173227		2203	4299	6502	58459494	SO:0001587	stop_gained	9194	exon5			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1204G>T	12.37:g.60173227G>T	ENSP00000261187:p.Glu402*	Somatic		Capture	Illumina HiSeq	Phase_I	58459494	NM_004731	Q8NEM3|Q9UPB3	Nonsense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	36	5.969667	0.97156	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	.	.	.	5.26	-1.49	0.08718	.	0.887802	0.10229	N	0.699879	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5263	0.33307	0.1956:0.3532:0.4512:0.0	.	.	.	.	X	402;402;402;402;402;303	.	.	E	+	1	0	SLC16A7	58459494	1.000000	0.71417	0.000000	0.03702	0.061000	0.15899	1.580000	0.36547	-0.546000	0.06216	0.591000	0.81541	GAA		0.343	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
FAM19A2	338811	broad.mit.edu	37	12	62261186	62261186	+	Missense_Mutation	SNP	C	C	A	rs186809868	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62261186C>A	ENST00000416284.3	-	2	1605	c.21G>T	c.(19-21)caG>caT	p.Q7H	FAM19A2_ENST00000551619.1_Missense_Mutation_p.Q7H|FAM19A2_ENST00000551449.1_Missense_Mutation_p.Q7H	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	7						cytoplasm (GO:0005737)		p.Q7H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTGTTGCTTTCTGTAAGTATC	0.313																																					p.Q7H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21T	12						.						95.0	97.0	96.0					12																	62261186		2203	4297	6500	60547453	SO:0001583	missense	338811	exon2			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.21G>T	12.37:g.62261186C>A	ENSP00000393987:p.Gln7His	Somatic		Capture	Illumina HiSeq	Phase_I	60547453	NM_178539	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777897	0.70107	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000551449;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	6.08	3.26	0.37387	.	0.078477	0.51477	D	0.000096	T	0.32315	0.0825	L	0.27053	0.805	0.25608	N	0.986522	P	0.38565	0.637	B	0.41813	0.367	T	0.11916	-1.0568	8	.	.	.	.	11.8548	0.52431	0.0:0.8079:0.0:0.1921	.	7	Q8N3H0	F19A2_HUMAN	H	7;7;7;8;14;8	.	.	Q	-	3	2	FAM19A2	60547453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.340000	0.43974	0.899000	0.36444	0.655000	0.94253	CAG		0.313	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539	
USP15	9958	broad.mit.edu	37	12	62688098	62688098	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62688098T>C	ENST00000280377.5	+	2	275				USP15_ENST00000353364.3_Intron|USP15_ENST00000312635.6_Intron|USP15_ENST00000393654.3_Intron|USP15_ENST00000550632.1_Intron	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15						BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTCATTATTTTCTTCCTTCAG	0.343																																					.	Melanoma(181;615 2041 39364 49691 50001)											.	.	0			.	12						.						80.0	77.0	78.0					12																	62688098		2203	4300	6503	60974365	SO:0001627	intron_variant	9958	.			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.217+11T>C	12.37:g.62688098T>C		Somatic		Capture	Illumina HiSeq	Phase_I	60974365	.	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Intron	SNP	ENST00000280377.5	37	CCDS58251.1																																																																																				0.343	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
USP15	9958	broad.mit.edu	37	12	62715332	62715332	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62715332T>G	ENST00000280377.5	+	5	621	c.563T>G	c.(562-564)tTt>tGt	p.F188C	USP15_ENST00000353364.3_Missense_Mutation_p.F188C|USP15_ENST00000312635.6_Missense_Mutation_p.F188C|USP15_ENST00000393654.3_Missense_Mutation_p.F188C|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	188					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F188C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTAACACATTTGAACCACTG	0.333																																					p.F188C	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T563G	12						.						79.0	80.0	79.0					12																	62715332		2203	4300	6503	61001599	SO:0001583	missense	9958	exon5			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.563T>G	12.37:g.62715332T>G	ENSP00000280377:p.Phe188Cys	Somatic		Capture	Illumina HiSeq	Phase_I	61001599	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.89|15.89	2.967191|2.967191	0.53507|0.53507	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694|ENST00000549237	T;T;T|.	0.19394|.	2.16;2.15;2.15|.	5.42|5.42	4.26|4.26	0.50523|0.50523	.|.	0.144425|.	0.64402|.	D|.	0.000006|.	T|T	0.49949|0.49949	0.1587|0.1587	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.974;0.993;0.956|.	T|T	0.43523|0.43523	-0.9386|-0.9386	9|5	.|.	.|.	.|.	-14.6397|-14.6397	11.516|11.516	0.50522|0.50522	0.0:0.0719:0.0:0.9281|0.0:0.0719:0.0:0.9281	.|.	188;188;188|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	C|V	188;188;188;188;134;67|184	ENSP00000258123:F188C;ENSP00000280377:F188C;ENSP00000377264:F188C|.	.|.	F|L	+|+	2|1	0|2	USP15|USP15	61001599|61001599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.994000|1.994000	0.40757|0.40757	2.056000|2.056000	0.61249|0.61249	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
USP15	9958	broad.mit.edu	37	12	62790140	62790140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62790140C>T	ENST00000280377.5	+	20	2694	c.2636C>T	c.(2635-2637)gCt>gTt	p.A879V	USP15_ENST00000353364.3_Missense_Mutation_p.A850V|USP15_ENST00000393654.3_Missense_Mutation_p.A854V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	879	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A850V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTGATTGCTGTTTCCAAC	0.378																																					p.A850V	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2549T	12						.						128.0	118.0	122.0					12																	62790140		2203	4300	6503	61076407	SO:0001583	missense	9958	exon19			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2636C>T	12.37:g.62790140C>T	ENSP00000280377:p.Ala879Val	Somatic		Capture	Illumina HiSeq	Phase_I	61076407	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575399	0.96553	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;T;T	0.49720	3.33;3.33;0.77;3.33	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.211412	0.48767	D	0.000177	T	0.77592	0.4153	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.82398	-0.0477	9	.	.	.	-14.8562	19.6937	0.96012	0.0:1.0:0.0:0.0	.	879;850	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	850;879;854;81	ENSP00000258123:A850V;ENSP00000280377:A879V;ENSP00000377264:A854V;ENSP00000448372:A81V	.	A	+	2	0	USP15	61076407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.720000	0.93068	0.650000	0.86243	GCT		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
MON2	23041	broad.mit.edu	37	12	62887705	62887705	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62887705G>T	ENST00000393632.2	+	3	577	c.186G>T	c.(184-186)gaG>gaT	p.E62D	MON2_ENST00000393630.3_Missense_Mutation_p.E62D|MON2_ENST00000552738.1_Missense_Mutation_p.E62D|MON2_ENST00000549378.1_Intron|MON2_ENST00000393629.2_Missense_Mutation_p.E62D|MON2_ENST00000280379.6_Missense_Mutation_p.E62D|MON2_ENST00000546600.1_Missense_Mutation_p.E62D|MON2_ENST00000552115.1_Missense_Mutation_p.E62D	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	62					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E62D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CACTGAAAGAGAACAGCTCAG	0.338																																					p.E62D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G186T	12						.						74.0	64.0	67.0					12																	62887705		2202	4300	6502	61173972	SO:0001583	missense	23041	exon3				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.186G>T	12.37:g.62887705G>T	ENSP00000377252:p.Glu62Asp	Somatic		Capture	Illumina HiSeq	Phase_I	61173972	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780181	0.70222	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66099	-0.15;-0.19;-0.19;-0.15;-0.15;-0.19;1.46	5.66	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.38531	1.155	0.58432	D	0.999991	P;P;P;P	0.48998	0.918;0.776;0.618;0.864	B;P;P;P	0.48598	0.316;0.583;0.583;0.514	T	0.47058	-0.9146	9	.	.	.	-7.4293	9.5389	0.39240	0.2793:0.0:0.7207:0.0	.	62;62;62;62	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	D	62	ENSP00000377252:E62D;ENSP00000377250:E62D;ENSP00000280379:E62D;ENSP00000447407:E62D;ENSP00000449215:E62D;ENSP00000377249:E62D;ENSP00000446635:E62D	.	E	+	3	2	MON2	61173972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.249000	0.32839	0.350000	0.24002	0.591000	0.81541	GAG		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
MON2	23041	broad.mit.edu	37	12	62929435	62929435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62929435C>A	ENST00000393632.2	+	14	2237	c.1846C>A	c.(1846-1848)Cat>Aat	p.H616N	MON2_ENST00000393630.3_Missense_Mutation_p.H616N|MON2_ENST00000552738.1_Intron|MON2_ENST00000393629.2_Missense_Mutation_p.H616N|MON2_ENST00000280379.6_Missense_Mutation_p.H616N|MON2_ENST00000546600.1_Missense_Mutation_p.H616N|MON2_ENST00000552115.1_Missense_Mutation_p.H616N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	616					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.H616N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTGCCTCCCCATTATGCTCT	0.418																																					p.H616N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1846A	12						.						137.0	127.0	130.0					12																	62929435		2203	4300	6503	61215702	SO:0001583	missense	23041	exon14				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1846C>A	12.37:g.62929435C>A	ENSP00000377252:p.His616Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61215702	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147364	0.57151	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000393629;ENST00000552115	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.71	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.43923	1.385	0.80722	D	1	B;B;P	0.34462	0.11;0.087;0.454	B;B;B	0.31869	0.032;0.062;0.137	T	0.24083	-1.0170	9	.	.	.	-14.8429	19.4276	0.94749	0.0:1.0:0.0:0.0	.	616;616;616	B9EGP5;F8W1Z6;Q7Z3U7-4	.;.;.	N	616;616;616;616;544;616;616	ENSP00000377252:H616N;ENSP00000377250:H616N;ENSP00000280379:H616N;ENSP00000447407:H616N;ENSP00000377249:H616N;ENSP00000446635:H616N	.	H	+	1	0	MON2	61215702	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	7.689000	0.84165	2.647000	0.89833	0.655000	0.94253	CAT		0.418	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
MON2	23041	broad.mit.edu	37	12	62938743	62938743	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:62938743A>C	ENST00000393632.2	+	21	2923	c.2532A>C	c.(2530-2532)aaA>aaC	p.K844N	MON2_ENST00000393630.3_Missense_Mutation_p.K845N|MON2_ENST00000552738.1_Missense_Mutation_p.K821N|MON2_ENST00000393629.2_Missense_Mutation_p.K844N|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000280379.6_Missense_Mutation_p.K845N|MON2_ENST00000546600.1_Missense_Mutation_p.K844N|MON2_ENST00000552115.1_Missense_Mutation_p.K844N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	844					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.K844N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTCTTATTAAAGCAGGATTAA	0.333																																					p.K844N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2532C	12						.						66.0	67.0	66.0					12																	62938743		2203	4300	6503	61225010	SO:0001583	missense	23041	exon21				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2532A>C	12.37:g.62938743A>C	ENSP00000377252:p.Lys844Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61225010	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.477148	0.63849	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.67523	-0.27;-0.19;-0.19;-0.27;-0.27;-0.27;1.35	5.77	4.63	0.57726	.	0.156095	0.56097	D	0.000030	T	0.77538	0.4145	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.79108	0.913;0.982;0.986;0.992	T	0.76457	-0.2952	9	.	.	.	-16.5846	11.6662	0.51374	0.9309:0.0:0.0691:0.0	.	844;821;844;844	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	844;845;845;844;821;844;844	ENSP00000377252:K844N;ENSP00000377250:K845N;ENSP00000280379:K845N;ENSP00000447407:K844N;ENSP00000449215:K821N;ENSP00000377249:K844N;ENSP00000446635:K844N	.	K	+	3	2	MON2	61225010	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.306000	0.65756	1.014000	0.39417	-0.250000	0.11733	AAA		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
AVPR1A	552	broad.mit.edu	37	12	63541222	63541222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:63541222G>A	ENST00000299178.2	-	2	1279	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	392					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.R392*(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTTGGGCTTCGATTGTTAGAA	0.403																																					p.R392X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)	c.C1174T	12						.						236.0	221.0	226.0					12																	63541222		2203	4300	6503	61827489	SO:0001587	stop_gained	552	exon2			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1174C>T	12.37:g.63541222G>A	ENSP00000299178:p.Arg392*	Somatic		Capture	Illumina HiSeq	Phase_I	61827489	NM_000706		Nonsense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960202	0.74016	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	.	.	.	6.17	3.31	0.37934	.	0.152871	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5277	14.464	0.67470	0.0:0.0:0.5199:0.4801	.	.	.	.	X	173;392	.	.	R	-	1	2	AVPR1A	61827489	1.000000	0.71417	0.996000	0.52242	0.100000	0.18952	3.359000	0.52292	0.448000	0.26722	0.655000	0.94253	CGA		0.403	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
SRGAP1	57522	broad.mit.edu	37	12	64485111	64485111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:64485111C>T	ENST00000355086.3	+	12	2016	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	498	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.Q498*(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCCCGCTCACAGTATAATAC	0.463																																					p.Q498X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1492T	12						.						93.0	96.0	95.0					12																	64485111		2203	4300	6503	62771378	SO:0001587	stop_gained	57522	exon12			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1492C>T	12.37:g.64485111C>T	ENSP00000347198:p.Gln498*	Somatic		Capture	Illumina HiSeq	Phase_I	62771378	NM_020762	Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	43	10.508038	0.99418	.	.	ENSG00000196935	ENST00000355086	.	.	.	5.75	5.75	0.90469	.	0.000000	0.33691	U	0.004654	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3148	0.94207	0.0:1.0:0.0:0.0	.	.	.	.	X	498	.	.	Q	+	1	0	SRGAP1	62771378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.298000	0.43602	2.885000	0.99019	0.655000	0.94253	CAG		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
TBK1	29110	broad.mit.edu	37	12	64854048	64854048	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:64854048T>G	ENST00000331710.5	+	3	506	c.167T>G	c.(166-168)tTt>tGt	p.F56C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F56C(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ATGAGAGAATTTGAAGTGTTG	0.274																																					p.F56C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T167G	12						.						48.0	55.0	53.0					12																	64854048		2197	4274	6471	63140315	SO:0001583	missense	29110	exon3			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.167T>G	12.37:g.64854048T>G	ENSP00000329967:p.Phe56Cys	Somatic		Capture	Illumina HiSeq	Phase_I	63140315	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316231	0.81469	.	.	ENSG00000183735	ENST00000331710;ENST00000538890;ENST00000540417;ENST00000539810	T;T;T;T	0.65732	1.06;-0.17;-0.17;-0.17	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83648	0.0154	9	.	.	.	-13.82	15.755	0.78015	0.0:0.0:0.0:1.0	.	56	Q9UHD2	TBK1_HUMAN	C	56;56;56;4	ENSP00000329967:F56C;ENSP00000445834:F56C;ENSP00000445628:F56C;ENSP00000444428:F4C	.	F	+	2	0	TBK1	63140315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.917000	0.87498	2.185000	0.69588	0.455000	0.32223	TTT		0.274	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
TBK1	29110	broad.mit.edu	37	12	64890975	64890975	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:64890975C>T	ENST00000331710.5	+	18	2234	c.1895C>T	c.(1894-1896)tCg>tTg	p.S632L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	632					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S632L(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CAGTTATTATCGCTGACTAAT	0.294																																					p.S632L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1895T	12						.						125.0	120.0	122.0					12																	64890975		2203	4298	6501	63177242	SO:0001583	missense	29110	exon18			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1895C>T	12.37:g.64890975C>T	ENSP00000329967:p.Ser632Leu	Somatic		Capture	Illumina HiSeq	Phase_I	63177242	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264276	0.23136	.	.	ENSG00000183735	ENST00000331710	T	0.11495	2.77	5.41	5.41	0.78517	.	0.510122	0.22054	N	0.065270	T	0.08044	0.0201	N	0.19112	0.55	0.20196	N	0.999921	B	0.32731	0.382	B	0.19666	0.026	T	0.30504	-0.9976	9	.	.	.	-3.5766	19.561	0.95373	0.0:1.0:0.0:0.0	.	632	Q9UHD2	TBK1_HUMAN	L	632	ENSP00000329967:S632L	.	S	+	2	0	TBK1	63177242	0.765000	0.28485	0.886000	0.34754	0.971000	0.66376	2.771000	0.47670	2.710000	0.92621	0.491000	0.48974	TCG		0.294	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
LEMD3	23592	broad.mit.edu	37	12	65564296	65564296	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:65564296A>C	ENST00000308330.2	+	1	946	c.920A>C	c.(919-921)gAg>gCg	p.E307A	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	307					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.E307A(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGCAGGCTGGAGACTTCAGTT	0.642																																					p.E307A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A920C	12						.						24.0	27.0	26.0					12																	65564296		2201	4298	6499	63850563	SO:0001583	missense	23592	exon1			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.920A>C	12.37:g.65564296A>C	ENSP00000308369:p.Glu307Ala	Somatic		Capture	Illumina HiSeq	Phase_I	63850563	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142242	0.37825	.	.	ENSG00000174106	ENST00000308330	T	0.46819	0.86	3.69	3.69	0.42338	.	0.791577	0.11176	N	0.591452	T	0.24509	0.0594	N	0.14661	0.345	0.32378	N	0.554996	P	0.37781	0.608	B	0.27380	0.079	T	0.17319	-1.0373	9	.	.	.	-6.9032	7.9596	0.30064	0.9039:0.0:0.0961:0.0	.	307	Q9Y2U8	MAN1_HUMAN	A	307	ENSP00000308369:E307A	.	E	+	2	0	LEMD3	63850563	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	3.116000	0.50399	1.904000	0.55121	0.379000	0.24179	GAG		0.642	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
LEMD3	23592	broad.mit.edu	37	12	65632292	65632292	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:65632292C>A	ENST00000308330.2	+	5	1732	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	569					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.P569H(2)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATTTAGGTCCTGAATATGAA	0.303																																					p.P569H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1706A	12						.						55.0	56.0	55.0					12																	65632292		2202	4299	6501	63918559	SO:0001583	missense	23592	exon5			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1706C>A	12.37:g.65632292C>A	ENSP00000308369:p.Pro569His	Somatic		Capture	Illumina HiSeq	Phase_I	63918559	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938865	0.52972	.	.	ENSG00000174106	ENST00000308330	T	0.45276	0.9	4.73	4.73	0.59995	Inner nuclear membrane protein MAN1 (1);	0.390503	0.25442	N	0.030648	T	0.52869	0.1761	L	0.44542	1.39	0.32108	N	0.589746	D	0.65815	0.995	D	0.67231	0.95	T	0.57642	-0.7776	9	.	.	.	-9.8878	12.6721	0.56872	0.1652:0.8348:0.0:0.0	.	569	Q9Y2U8	MAN1_HUMAN	H	569	ENSP00000308369:P569H	.	P	+	2	0	LEMD3	63918559	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.923000	0.40055	2.568000	0.86640	0.650000	0.86243	CCT		0.303	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
IRAK3	11213	broad.mit.edu	37	12	66639052	66639052	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:66639052T>C	ENST00000261233.4	+	11	1735				IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.?(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGTGAGTATATACATGGTTTT	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						56.0	58.0	57.0					12																	66639052		2203	4300	6503	64925319	SO:0001627	intron_variant	11213	.			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1314+10T>C	12.37:g.66639052T>C		Somatic		Capture	Illumina HiSeq	Phase_I	64925319	.		Intron	SNP	ENST00000261233.4	37	CCDS8975.1																																																																																				0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
CAND1	55832	broad.mit.edu	37	12	67686567	67686567	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:67686567G>A	ENST00000545606.1	+	3	804					NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1						cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTAAGCAAGAGCACATTTTTC	0.433																																					.												.	.	0			.	12						.						108.0	106.0	107.0					12																	67686567		2203	4300	6503	65972834	SO:0001627	intron_variant	55832	.				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.367+11G>A	12.37:g.67686567G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65972834	.	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Intron	SNP	ENST00000545606.1	37	CCDS8977.1																																																																																				0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
CAND1	55832	broad.mit.edu	37	12	67698920	67698920	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:67698920C>T	ENST00000545606.1	+	10	1909	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	491					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.S491L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCAAGCTCATCGAATTTGAAG	0.363																																					p.S491L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1472T	12						.						128.0	115.0	120.0					12																	67698920		2203	4300	6503	65985187	SO:0001583	missense	55832	exon10				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1472C>T	12.37:g.67698920C>T	ENSP00000442318:p.Ser491Leu	Somatic		Capture	Illumina HiSeq	Phase_I	65985187	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894644	0.72639	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.66099	-0.19	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85197	0.1013	9	.	.	.	-9.3567	19.5723	0.95425	0.0:1.0:0.0:0.0	.	491	Q86VP6	CAND1_HUMAN	L	491;491;333	ENSP00000442318:S491L	.	S	+	2	0	CAND1	65985187	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	7.750000	0.85110	2.695000	0.91970	0.557000	0.71058	TCG		0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
IFNG	3458	broad.mit.edu	37	12	68551837	68551837	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:68551837G>T	ENST00000229135.3	-	3	353	c.222C>A	c.(220-222)tcC>tcA	p.S74S	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	74					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)	p.S74S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	TGAAGTAAAAGGAGACAATTT	0.368																																					p.S74S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222A	12						.						87.0	88.0	88.0					12																	68551837		2203	4300	6503	66838104	SO:0001819	synonymous_variant	3458	exon3				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.222C>A	12.37:g.68551837G>T		Somatic		Capture	Illumina HiSeq	Phase_I	66838104	NM_000619	B5BU88|Q53ZV4	Silent	SNP	ENST00000229135.3	37	CCDS8980.1																																																																																				0.368	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		
IL26	55801	broad.mit.edu	37	12	68618944	68618944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:68618944C>A	ENST00000229134.4	-	3	412	c.348G>T	c.(346-348)caG>caT	p.Q116H	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	116					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.Q116H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GGCTCAATTTCTGCCTAAGGC	0.413																																					p.Q116H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	12						.						96.0	89.0	91.0					12																	68618944		2203	4300	6503	66905211	SO:0001583	missense	55801	exon3			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.348G>T	12.37:g.68618944C>A	ENSP00000229134:p.Gln116His	Somatic		Capture	Illumina HiSeq	Phase_I	66905211	NM_018402		Missense_Mutation	SNP	ENST00000229134.4	37	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860459	0.32884	.	.	ENSG00000111536	ENST00000229134	T	0.62941	-0.01	5.19	4.3	0.51218	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.114035	0.38272	N	0.001758	T	0.68586	0.3017	L	0.44542	1.39	0.27551	N	0.950488	D	0.71674	0.998	D	0.71870	0.975	T	0.60707	-0.7210	9	.	.	.	-3.2218	9.8793	0.41222	0.0:0.9047:0.0:0.0953	.	116	Q9NPH9	IL26_HUMAN	H	116	ENSP00000229134:Q116H	.	Q	-	3	2	IL26	66905211	1.000000	0.71417	0.942000	0.38095	0.105000	0.19272	1.823000	0.39062	1.334000	0.45468	0.542000	0.68232	CAG		0.413	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402	
NUP107	57122	broad.mit.edu	37	12	69127396	69127396	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:69127396A>T	ENST00000229179.4	+	24	2594				NUP107_ENST00000378905.2_Intron|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.?(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTATTTGGTGAGACTGTAAAG	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						114.0	108.0	110.0					12																	69127396		2203	4300	6503	67413663	SO:0001627	intron_variant	57122	.			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2262+4A>T	12.37:g.69127396A>T		Somatic		Capture	Illumina HiSeq	Phase_I	67413663	.	B4DZ67|Q6PJE1	Intron	SNP	ENST00000229179.4	37	CCDS8985.1																																																																																				0.388	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
SLC35E3	55508	broad.mit.edu	37	12	69140262	69140262	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:69140262T>G	ENST00000398004.2	+	1	377	c.105T>G	c.(103-105)atT>atG	p.I35M		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	35						integral component of membrane (GO:0016021)		p.I35M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			ACAAATGGATTTATGTGTACC	0.572																																					p.I35M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T105G	12						.						66.0	71.0	70.0					12																	69140262		2021	4174	6195	67426529	SO:0001583	missense	55508	exon1			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.105T>G	12.37:g.69140262T>G	ENSP00000381089:p.Ile35Met	Somatic		Capture	Illumina HiSeq	Phase_I	67426529	NM_018656	A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756549	0.31137	.	.	ENSG00000175782	ENST00000398004	T	0.60548	0.18	5.17	4.27	0.50696	.	.	.	.	.	T	0.54127	0.1839	M	0.75085	2.285	0.43073	D	0.994711	B	0.24963	0.115	B	0.29267	0.1	T	0.52185	-0.8609	8	.	.	.	-22.2869	6.1381	0.20245	0.0:0.6155:0.2057:0.1789	.	35	Q7Z769	S35E3_HUMAN	M	35	ENSP00000381089:I35M	.	I	+	3	3	SLC35E3	67426529	1.000000	0.71417	0.999000	0.59377	0.335000	0.28730	0.841000	0.27613	1.283000	0.44513	-0.462000	0.05337	ATT		0.572	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656	
MDM2	4193	broad.mit.edu	37	12	69222657	69222657	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:69222657G>T	ENST00000350057.5	+	6	537	c.537G>T	c.(535-537)gaG>gaT	p.E179D	MDM2_ENST00000299252.4_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E149D|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.E210D|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.E155D|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	204	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E204D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TAATAAGGGAGATATGTTGTG	0.398			A		"""sarcoma, glioma, colorectal, other"""																																p.E210D			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G630T	12						.						179.0	170.0	173.0					12																	69222657		1914	4117	6031	67508924	SO:0001583	missense	4193	exon8				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.537G>T	12.37:g.69222657G>T	ENSP00000266624:p.Glu179Asp	Somatic		Capture	Illumina HiSeq	Phase_I	67508924	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	G	11.62	1.693610	0.30052	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.45668	1.49;0.89;0.89;0.89;1.49	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.255835	0.43919	D	0.000507	T	0.44329	0.1288	L	0.54323	1.7	0.80722	D	1	D;P;P;D	0.56287	0.967;0.944;0.675;0.975	P;P;B;P	0.54238	0.746;0.527;0.364;0.718	T	0.41360	-0.9513	9	.	.	.	-2.8208	3.4567	0.07518	0.154:0.1348:0.5723:0.1389	.	159;204;155;210	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	D	210;159;149;204;165;155;204;204;179	ENSP00000417281:E210D;ENSP00000258149:E149D;ENSP00000258148:E155D;ENSP00000444430:E204D;ENSP00000266624:E179D	.	E	+	3	2	MDM2	67508924	0.997000	0.39634	0.984000	0.44739	0.914000	0.54420	0.745000	0.26259	1.329000	0.45376	0.467000	0.42956	GAG		0.398	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	
MDM2	4193	broad.mit.edu	37	12	69233505	69233505	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:69233505T>C	ENST00000350057.5	+	9	1277	c.1277T>C	c.(1276-1278)gTc>gCc	p.V426A	MDM2_ENST00000299252.4_Missense_Mutation_p.V281A|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.V396A|MDM2_ENST00000517852.1_Missense_Mutation_p.V90A|MDM2_ENST00000428863.2_Missense_Mutation_p.V230A|MDM2_ENST00000356290.4_Missense_Mutation_p.V281A|MDM2_ENST00000393410.1_Missense_Mutation_p.V203A|MDM2_ENST00000393412.3_Missense_Mutation_p.V178A|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.V457A|MDM2_ENST00000540827.1_Missense_Mutation_p.V256A|MDM2_ENST00000258148.7_Missense_Mutation_p.V402A|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000348801.2_Missense_Mutation_p.V225A|MDM2_ENST00000360430.2_Missense_Mutation_p.V256A|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000393413.3_Missense_Mutation_p.V178A			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	451	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V451A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGTTGCATTGTCCATGGCAAA	0.418			A		"""sarcoma, glioma, colorectal, other"""																																p.V457A			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1370C	12						.						133.0	125.0	128.0					12																	69233505		1924	4142	6066	67519772	SO:0001583	missense	4193	exon11				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.1277T>C	12.37:g.69233505T>C	ENSP00000266624:p.Val426Ala	Somatic		Capture	Illumina HiSeq	Phase_I	67519772	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	T	21.2	4.108000	0.77096	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.36	5.36	0.76844	Zinc finger, RING-type (2);	0.231431	0.43747	D	0.000521	D	0.89192	0.6645	M	0.79475	2.455	0.80722	D	1	D;D;D;D;P;P;D;D;D;D	0.76494	0.968;0.993;0.968;0.999;0.944;0.863;0.967;0.981;0.991;0.992	P;D;P;D;P;P;P;P;P;P	0.72338	0.889;0.93;0.858;0.977;0.842;0.645;0.88;0.848;0.904;0.616	D	0.89650	0.3869	9	.	.	.	-6.0115	15.6671	0.77238	0.0:0.0:0.0:1.0	.	406;230;178;203;281;451;402;256;90;457	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q9H4C3;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.;.	A	457;406;396;281;256;230;178;412;402;178;426;203;281;256;90;225	ENSP00000417281:V457A;ENSP00000258149:V396A;ENSP00000348637:V281A;ENSP00000440932:V256A;ENSP00000410694:V230A;ENSP00000377064:V178A;ENSP00000258148:V402A;ENSP00000377065:V178A;ENSP00000266624:V426A;ENSP00000377062:V203A;ENSP00000299252:V281A;ENSP00000353611:V256A;ENSP00000430257:V90A;ENSP00000335096:V225A	.	V	+	2	0	MDM2	67519772	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.512000	0.81728	2.157000	0.67596	0.533000	0.62120	GTC		0.418	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	
CPSF6	11052	broad.mit.edu	37	12	69653866	69653866	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:69653866C>A	ENST00000435070.2	+	8	1468	c.1358C>A	c.(1357-1359)tCt>tAt	p.S453Y	CPSF6_ENST00000266679.8_Missense_Mutation_p.S490Y|CPSF6_ENST00000456847.3_Missense_Mutation_p.S380Y|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	453					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S453Y(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACTGCAATTTCTTTAATTAAA	0.363																																					p.S453Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1358A	12						.						140.0	140.0	140.0					12																	69653866		2203	4300	6503	67940133	SO:0001583	missense	11052	exon8			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1358C>A	12.37:g.69653866C>A	ENSP00000391774:p.Ser453Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	67940133	NM_007007	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.368831	0.82463	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.32023	1.47;1.47;1.47	5.72	5.72	0.89469	.	0.091359	0.85682	D	0.000000	T	0.53546	0.1803	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.83275	0.993;0.996;0.979	T	0.37056	-0.9722	9	.	.	.	-18.6469	20.2626	0.98452	0.0:1.0:0.0:0.0	.	201;490;453	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	Y	453;380;490	ENSP00000391774:S453Y;ENSP00000391437:S380Y;ENSP00000266679:S490Y	.	S	+	2	0	CPSF6	67940133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.240000	0.72363	2.873000	0.98535	0.563000	0.77884	TCT		0.363	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
PTPRB	5787	broad.mit.edu	37	12	70990064	70990064	+	Silent	SNP	C	C	T	rs368470501		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:70990064C>T	ENST00000261266.5	-	3	398	c.369G>A	c.(367-369)acG>acA	p.T123T	PTPRB_ENST00000550857.1_Silent_p.T123T|PTPRB_ENST00000451516.2_Silent_p.T123T|PTPRB_ENST00000550358.1_Silent_p.T341T|PTPRB_ENST00000551525.1_Silent_p.T340T|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.T123T|PTPRB_ENST00000334414.6_Silent_p.T341T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	123	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T123T(1)|p.T341T(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTTGAAGTCGTCTTCTCTT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15101	0.0		0.0	False		,,,				2504	0.0				p.T123T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G369A	12						.	C	,,,	2,3746		0,2,1872	55.0	53.0	54.0		1023,369,369,369	-7.6	0.0	12		54	0,8242		0,0,4121	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	,,,	0,2,5993	TT,TC,CC		0.0,0.0534,0.0167	,,,	341/2216,123/1908,123/1908,123/1998	70990064	2,11988	1874	4121	5995	69276331	SO:0001819	synonymous_variant	5787	exon3			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.369G>A	12.37:g.70990064C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69276331	NM_002837	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.388	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRR	5801	broad.mit.edu	37	12	71158570	71158570	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:71158570G>T	ENST00000283228.2	-	3	810				PTPRR_ENST00000342084.4_Intron	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TAGAAAATAAGGACAAAAATA	0.353																																					.												.	.	0			.	12						.						56.0	52.0	53.0					12																	71158570		2203	4300	6503	69444837	SO:0001627	intron_variant	5801	.			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.358-12C>A	12.37:g.71158570G>T		Somatic		Capture	Illumina HiSeq	Phase_I	69444837	.	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Intron	SNP	ENST00000283228.2	37	CCDS8998.1																																																																																				0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
ZFC3H1	196441	broad.mit.edu	37	12	72005623	72005623	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72005623T>G	ENST00000378743.3	-	32	6030	c.5672A>C	c.(5671-5673)aAa>aCa	p.K1891T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1891					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K1891T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGCTTGAAGTTTCAGAATCTG	0.358																																					p.K1891T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5672C	12						.						184.0	166.0	171.0					12																	72005623		1867	4105	5972	70291890	SO:0001583	missense	196441	exon32			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5672A>C	12.37:g.72005623T>G	ENSP00000368017:p.Lys1891Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70291890	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355007	0.82243	.	.	ENSG00000133858	ENST00000378743	T	0.36157	1.27	5.62	5.62	0.85841	.	0.052676	0.85682	D	0.000000	T	0.41190	0.1148	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	P	0.55508	0.777	T	0.38351	-0.9665	10	0.72032	D	0.01	.	16.1251	0.81386	0.0:0.0:0.0:1.0	.	1891	O60293	ZC3H1_HUMAN	T	1891	ENSP00000368017:K1891T	ENSP00000368017:K1891T	K	-	2	0	ZFC3H1	70291890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.150000	0.71801	2.267000	0.75376	0.477000	0.44152	AAA		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZFC3H1	196441	broad.mit.edu	37	12	72025925	72025925	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72025925T>C	ENST00000378743.3	-	15	3545	c.3187A>G	c.(3187-3189)Act>Gct	p.T1063A		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1063					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T1063A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGTTAGCAGTATCAGTGTGC	0.299																																					p.T1063A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3187G	12						.						95.0	92.0	93.0					12																	72025925		1811	4079	5890	70312192	SO:0001583	missense	196441	exon15			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3187A>G	12.37:g.72025925T>C	ENSP00000368017:p.Thr1063Ala	Somatic		Capture	Illumina HiSeq	Phase_I	70312192	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840543	0.51057	.	.	ENSG00000133858	ENST00000378743	T	0.34072	1.38	5.67	4.5	0.54988	.	0.325614	0.33457	N	0.004881	T	0.21550	0.0519	L	0.29908	0.895	0.80722	D	1	P	0.38020	0.615	B	0.29267	0.1	T	0.03148	-1.1067	10	0.11485	T	0.65	.	12.9916	0.58622	0.0:0.0:0.1351:0.8649	.	1063	O60293	ZC3H1_HUMAN	A	1063	ENSP00000368017:T1063A	ENSP00000368017:T1063A	T	-	1	0	ZFC3H1	70312192	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.820000	0.48057	1.047000	0.40274	0.477000	0.44152	ACT		0.299	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZFC3H1	196441	broad.mit.edu	37	12	72032307	72032307	+	Intron	SNP	T	T	A	rs542287271	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72032307T>A	ENST00000378743.3	-	7	1986				SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTAAAAAAATTTTTTGTTAA	0.343																																					.												.	.	0			.	12						.						33.0	33.0	33.0					12																	72032307		1790	4061	5851	70318574	SO:0001627	intron_variant	196441	.			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1628-12A>T	12.37:g.72032307T>A		Somatic		Capture	Illumina HiSeq	Phase_I	70318574	.	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Intron	SNP	ENST00000378743.3	37	CCDS41813.1																																																																																				0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
TMEM19	55266	broad.mit.edu	37	12	72091276	72091276	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72091276C>A	ENST00000266673.5	+	4	1193	c.599C>A	c.(598-600)tCt>tAt	p.S200Y	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.S200Y	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	200						integral component of membrane (GO:0016021)		p.S200Y(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AGTAAAAGTTCTCCAAGACTG	0.463																																					p.S200Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C599A	12						.						110.0	110.0	110.0					12																	72091276		2203	4300	6503	70377543	SO:0001583	missense	55266	exon4			BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.599C>A	12.37:g.72091276C>A	ENSP00000266673:p.Ser200Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70377543	NM_018279	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	CCDS9002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.877612|1.877612	0.33162|0.33162	.|.	.|.	ENSG00000139291|ENSG00000139291	ENST00000550787|ENST00000266673;ENST00000549735;ENST00000546677;ENST00000546795	.|.	.|.	.|.	5.94|5.94	3.93|3.93	0.45458|0.45458	.|.	.|0.699359	.|0.15023	.|N	.|0.284867	T|T	0.52741|0.52741	0.1753|0.1753	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	.|B;B	.|0.30793	.|0.295;0.005	.|B;B	.|0.38156	.|0.266;0.005	T|T	0.52975|0.52975	-0.8503|-0.8503	5|9	.|0.59425	.|D	.|0.04	-0.3701|-0.3701	13.5398|13.5398	0.61668|0.61668	0.3936:0.6064:0.0:0.0|0.3936:0.6064:0.0:0.0	.|.	.|200;200	.|Q96HH6;Q96HH6-2	.|TMM19_HUMAN;.	L|Y	15|200;200;99;44	.|.	.|ENSP00000266673:S200Y	F|S	+|+	3|2	2|0	TMEM19|TMEM19	70377543|70377543	0.000000|0.000000	0.05858|0.05858	0.269000|0.269000	0.24586|0.24586	0.923000|0.923000	0.55619|0.55619	1.088000|1.088000	0.30877|0.30877	1.480000|1.480000	0.48289|0.48289	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.463	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279	
TPH2	121278	broad.mit.edu	37	12	72425355	72425355	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72425355A>C	ENST00000333850.3	+	11	1494	c.1353A>C	c.(1351-1353)acA>acC	p.T451T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.T451T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATCCCTACACACAGAGTATTG	0.403																																					p.T451T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1353C	12						.						116.0	108.0	110.0					12																	72425355		2203	4299	6502	70711622	SO:0001819	synonymous_variant	121278	exon11			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1353A>C	12.37:g.72425355A>C		Somatic		Capture	Illumina HiSeq	Phase_I	70711622	NM_173353	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	CCDS31859.1																																																																																				0.403	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
TRHDE	29953	broad.mit.edu	37	12	72956764	72956764	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:72956764G>T	ENST00000261180.4	+	9	1947	c.1851G>T	c.(1849-1851)caG>caT	p.Q617H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	617					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q617H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCCAACAGCATTTTATCT	0.318																																					p.Q617H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1851T	12						.						88.0	94.0	92.0					12																	72956764		2203	4295	6498	71243031	SO:0001583	missense	29953	exon9			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1851G>T	12.37:g.72956764G>T	ENSP00000261180:p.Gln617His	Somatic		Capture	Illumina HiSeq	Phase_I	71243031	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	g	14.30	2.494431	0.44352	.	.	ENSG00000072657	ENST00000261180	T	0.01359	4.98	6.17	-2.13	0.07144	.	0.113799	0.64402	D	0.000018	T	0.01254	0.0041	N	0.21545	0.675	0.35810	D	0.823777	P	0.45283	0.855	B	0.37780	0.258	T	0.49244	-0.8960	10	0.54805	T	0.06	.	15.982	0.80116	0.358:0.0:0.642:0.0	.	617	Q9UKU6	TRHDE_HUMAN	H	617	ENSP00000261180:Q617H	ENSP00000261180:Q617H	Q	+	3	2	TRHDE	71243031	0.845000	0.29573	0.975000	0.42487	0.927000	0.56198	-0.120000	0.10660	-0.629000	0.05575	-0.285000	0.09966	CAG		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
TRHDE	29953	broad.mit.edu	37	12	73046122	73046122	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:73046122A>G	ENST00000261180.4	+	16	2657	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	854					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D854G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATGTTAGAGACATCGTATAC	0.353																																					p.D854G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2561G	12						.						97.0	94.0	95.0					12																	73046122		2203	4300	6503	71332389	SO:0001583	missense	29953	exon16			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2561A>G	12.37:g.73046122A>G	ENSP00000261180:p.Asp854Gly	Somatic		Capture	Illumina HiSeq	Phase_I	71332389	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	a	17.18	3.322660	0.60634	.	.	ENSG00000072657	ENST00000261180	T	0.04758	3.56	5.03	5.03	0.67393	.	0.104779	0.64402	D	0.000004	T	0.07999	0.0200	L	0.31420	0.93	0.80722	D	1	P	0.47545	0.897	P	0.51615	0.675	T	0.50800	-0.8785	10	0.19147	T	0.46	.	15.0573	0.71925	1.0:0.0:0.0:0.0	.	854	Q9UKU6	TRHDE_HUMAN	G	854	ENSP00000261180:D854G	ENSP00000261180:D854G	D	+	2	0	TRHDE	71332389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.347000	0.79356	2.012000	0.59069	0.454000	0.30748	GAC		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
KCNC2	3747	broad.mit.edu	37	12	75601277	75601277	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:75601277C>T	ENST00000549446.1	-	2	1167	c.487G>A	c.(487-489)Gag>Aag	p.E163K	KCNC2_ENST00000341669.3_Missense_Mutation_p.E163K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E163K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E163K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E163K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E163K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E163K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E163K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	163					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E163K(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGCGCCTCCTCGGCGTCGCGG	0.706																																					p.E163K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G487A	12						.						28.0	31.0	30.0					12																	75601277		2203	4299	6502	73887544	SO:0001583	missense	3747	exon2			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.487G>A	12.37:g.75601277C>T	ENSP00000449253:p.Glu163Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73887544	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183071	0.78677	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97553	-4.42;-4.43;-4.42;-4.42;-4.43;-4.39;-4.38;-4.43	3.65	3.65	0.41850	BTB/POZ fold (2);	.	.	.	.	D	0.95730	0.8611	L	0.47190	1.495	0.80722	D	1	P;P;P;P;P	0.50819	0.724;0.724;0.927;0.724;0.939	B;B;B;B;P	0.47162	0.232;0.232;0.288;0.232;0.54	D	0.95154	0.8275	9	0.39692	T	0.17	.	15.8946	0.79325	0.0:1.0:0.0:0.0	.	163;163;163;163;163	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	K	163	ENSP00000448301:E163K;ENSP00000449941:E163K;ENSP00000449253:E163K;ENSP00000340121:E163K;ENSP00000298972:E163K;ENSP00000319877:E163K;ENSP00000438423:E163K;ENSP00000376966:E163K	ENSP00000298972:E163K	E	-	1	0	KCNC2	73887544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.372000	0.79612	2.037000	0.60232	0.563000	0.77884	GAG		0.706	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
BBS10	79738	broad.mit.edu	37	12	76740198	76740198	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:76740198G>A	ENST00000393262.3	-	2	1650	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	523					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.L523L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAACATGTCAGCGTTTCAACT	0.353									Bardet-Biedl syndrome																												p.L523L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1567T	12						.						160.0	156.0	157.0					12																	76740198		2203	4300	6503	75264329	SO:0001819	synonymous_variant	79738	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1567C>T	12.37:g.76740198G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75264329	NM_024685	Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	CCDS9014.2																																																																																				0.353	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685	
OSBPL8	114882	broad.mit.edu	37	12	76750516	76750516	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:76750516G>T	ENST00000261183.3	-	23	2914				OSBPL8_ENST00000393250.4_Intron|OSBPL8_ENST00000393249.2_Intron	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8						fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GAGCTAAAAAGACATTTAGAA	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						98.0	96.0	97.0					12																	76750516		2198	4297	6495	75274647	SO:0001627	intron_variant	114882	.			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2435-8C>A	12.37:g.76750516G>T		Somatic		Capture	Illumina HiSeq	Phase_I	75274647	.	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Intron	SNP	ENST00000261183.3	37	CCDS31862.1																																																																																				0.313	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
ZDHHC17	23390	broad.mit.edu	37	12	77236692	77236692	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:77236692T>G	ENST00000426126.2	+	12	1915				ZDHHC17_ENST00000550789.1_Intron|ZDHHC17_ENST00000334822.5_Intron	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17						lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						atttttttaattCACAGACAA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						99.0	97.0	97.0					12																	77236692		1811	4069	5880	75760823	SO:0001627	intron_variant	23390	.			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1267-7T>G	12.37:g.77236692T>G		Somatic		Capture	Illumina HiSeq	Phase_I	75760823	.	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Intron	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																				0.333	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
CSRP2	1466	broad.mit.edu	37	12	77257008	77257008	+	Missense_Mutation	SNP	C	C	T	rs548686771		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:77257008C>T	ENST00000311083.5	-	3	352	c.229G>A	c.(229-231)Gct>Act	p.A77T	CSRP2_ENST00000546966.1_Missense_Mutation_p.A77T|CSRP2_ENST00000547435.1_Missense_Mutation_p.A77T|CSRP2_ENST00000552330.1_Missense_Mutation_p.A77T	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	77	Gly-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A77T(1)		kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						AGCGTGCCAGCGCCCTGGCCA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18664	0.0		0.001	False		,,,				2504	0.0				p.A77T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	12						.						110.0	95.0	100.0					12																	77257008		2203	4300	6503	75781139	SO:0001583	missense	1466	exon3			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.229G>A	12.37:g.77257008C>T	ENSP00000310901:p.Ala77Thr	Somatic		Capture	Illumina HiSeq	Phase_I	75781139	NM_001321	Q93030	Missense_Mutation	SNP	ENST00000311083.5	37	CCDS9015.1	.	.	.	.	.	.	.	.	.	.	C	36	5.914206	0.97099	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	.	0.094560	0.64402	D	0.000001	D	0.95258	0.8462	M	0.89715	3.055	0.80722	D	1	P	0.52842	0.956	P	0.49276	0.605	D	0.94619	0.7811	10	0.41790	T	0.15	-0.7473	20.3045	0.98621	0.0:1.0:0.0:0.0	.	77	Q16527	CSRP2_HUMAN	T	77	ENSP00000310901:A77T;ENSP00000449824:A77T;ENSP00000450056:A77T;ENSP00000450143:A77T	ENSP00000310901:A77T	A	-	1	0	CSRP2	75781139	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GCT		0.507	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321	
CSRP2	1466	broad.mit.edu	37	12	77259946	77259946	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:77259946C>T	ENST00000311083.5	-	2	218	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CSRP2_ENST00000546966.1_Missense_Mutation_p.R32H|CSRP2_ENST00000547435.1_Missense_Mutation_p.R32H|CSRP2_ENST00000552330.1_Missense_Mutation_p.R32H	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	32	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R32H(1)		kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						AAAGCAGCAGCGGTGGAAGCT	0.498																																					p.R32H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95A	12						.						103.0	78.0	87.0					12																	77259946		2203	4300	6503	75784077	SO:0001583	missense	1466	exon2			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.95G>A	12.37:g.77259946C>T	ENSP00000310901:p.Arg32His	Somatic		Capture	Illumina HiSeq	Phase_I	75784077	NM_001321	Q93030	Missense_Mutation	SNP	ENST00000311083.5	37	CCDS9015.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615234	0.87359	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.13	4.0	0.46444	Zinc finger, LIM-type (5);	0.124882	0.48767	D	0.000164	D	0.90031	0.6887	L	0.58810	1.83	0.46260	D	0.998952	P	0.38711	0.643	P	0.46144	0.505	D	0.90110	0.4191	10	0.87932	D	0	.	9.3665	0.38228	0.0:0.8053:0.0:0.1947	.	32	Q16527	CSRP2_HUMAN	H	32	ENSP00000310901:R32H;ENSP00000449824:R32H;ENSP00000450056:R32H;ENSP00000450143:R32H	ENSP00000310901:R32H	R	-	2	0	CSRP2	75784077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.136000	0.50554	2.550000	0.86006	0.655000	0.94253	CGC		0.498	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321	
E2F7	144455	broad.mit.edu	37	12	77421726	77421726	+	Missense_Mutation	SNP	T	T	G	rs34429867	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:77421726T>G	ENST00000322886.7	-	11	2312	c.2077A>C	c.(2077-2079)Aaa>Caa	p.K693Q	E2F7_ENST00000416496.2_Missense_Mutation_p.K693Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	693					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K693Q(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TCATTTTCTTTTGAAGGCTTT	0.438																																					p.K693Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2077C	12						.						143.0	137.0	139.0					12																	77421726		2203	4300	6503	75945857	SO:0001583	missense	144455	exon11			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2077A>C	12.37:g.77421726T>G	ENSP00000323246:p.Lys693Gln	Somatic		Capture	Illumina HiSeq	Phase_I	75945857	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109634	0.37242	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.39056	1.1;1.1;1.1	5.85	-1.1	0.09872	.	1.001750	0.08047	N	0.995983	T	0.32882	0.0844	L	0.47716	1.5	0.09310	N	1	B;B	0.19583	0.037;0.007	B;B	0.26094	0.066;0.004	T	0.34551	-0.9824	10	0.21540	T	0.41	-2.0036	6.2071	0.20608	0.0:0.2164:0.3976:0.386	.	693;693	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	Q	693;180;693;693	ENSP00000323246:K693Q;ENSP00000393639:K693Q;ENSP00000448245:K693Q	ENSP00000323246:K693Q	K	-	1	0	E2F7	75945857	0.009000	0.17119	0.015000	0.15790	0.987000	0.75469	-0.026000	0.12392	-0.422000	0.07405	0.533000	0.62120	AAA		0.438	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
E2F7	144455	broad.mit.edu	37	12	77427636	77427636	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:77427636C>A	ENST00000322886.7	-	8	1545		c.e8+1		E2F7_ENST00000416496.2_Splice_Site	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7						chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGGGCAGATACCTTGTTCTTC	0.498																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						131.0	109.0	116.0					12																	77427636		2203	4300	6503	75951767	SO:0001630	splice_region_variant	144455	.			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1309+1G>T	12.37:g.77427636C>A		Somatic		Capture	Illumina HiSeq	Phase_I	75951767	.	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Splice_Site	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853983	0.71719	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	E2F7	75951767	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.527000	0.67123	2.865000	0.98341	0.655000	0.94253	.		0.498	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	Intron
NAV3	89795	broad.mit.edu	37	12	78400873	78400873	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:78400873A>C	ENST00000397909.2	+	8	1728	c.1555A>C	c.(1555-1557)Agc>Cgc	p.S519R	NAV3_ENST00000266692.7_Missense_Mutation_p.S519R|NAV3_ENST00000228327.6_Missense_Mutation_p.S519R|NAV3_ENST00000536525.2_Missense_Mutation_p.S519R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	519						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S519R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAAGAAGGAAAGCTTAATTCC	0.453										HNSCC(70;0.22)																											p.S519R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1555C	12						.						72.0	71.0	71.0					12																	78400873		1919	4117	6036	76925004	SO:0001583	missense	89795	exon8			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1555A>C	12.37:g.78400873A>C	ENSP00000381007:p.Ser519Arg	Somatic		Capture	Illumina HiSeq	Phase_I	76925004	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	14.71	2.616865	0.46736	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.49	5.49	0.81192	.	0.000000	0.47455	U	0.000224	T	0.19287	0.0463	L	0.54323	1.7	0.80722	D	1	P;P	0.43477	0.808;0.773	B;P	0.45712	0.368;0.491	T	0.03403	-1.1040	10	0.17832	T	0.49	-15.3385	15.6058	0.76668	1.0:0.0:0.0:0.0	.	519;519	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	519	ENSP00000446628:S519R;ENSP00000446132:S519R;ENSP00000381007:S519R;ENSP00000228327:S519R;ENSP00000266692:S519R	ENSP00000228327:S519R	S	+	1	0	NAV3	76925004	1.000000	0.71417	0.998000	0.56505	0.143000	0.21401	3.525000	0.53502	2.098000	0.63641	0.528000	0.53228	AGC		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78515708	78515708	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:78515708T>C	ENST00000397909.2	+	16	3922				NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000536525.2_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGTTATTTGTTTTTCTTTTA	0.413										HNSCC(70;0.22)																											.												.	.	0			.	12						.						38.0	36.0	37.0					12																	78515708		1857	4103	5960	77039839	SO:0001627	intron_variant	89795	.			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3750-12T>C	12.37:g.78515708T>C		Somatic		Capture	Illumina HiSeq	Phase_I	77039839	.	Q8NFW7|Q9Y2E7	Intron	SNP	ENST00000397909.2	37																																																																																					0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78583830	78583830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:78583830G>A	ENST00000397909.2	+	34	6295	c.6122G>A	c.(6121-6123)aGg>aAg	p.R2041K	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842K|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019K|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2019K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTACCCAAAGGTACTTTAAC	0.348										HNSCC(70;0.22)																											p.R2019K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6056A	12						.						107.0	99.0	102.0					12																	78583830		1926	4151	6077	77107961	SO:0001583	missense	89795	exon33			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6122G>A	12.37:g.78583830G>A	ENSP00000381007:p.Arg2041Lys	Somatic		Capture	Illumina HiSeq	Phase_I	77107961	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	36	5.708517	0.96821	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.03	5.03	0.67393	.	0.000000	0.44688	U	0.000425	D	0.93733	0.7997	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.71674	0.972;0.974;0.998;0.99	P;D;D;D	0.75484	0.823;0.953;0.986;0.98	D	0.94263	0.7504	10	0.66056	D	0.02	-21.4846	18.7239	0.91705	0.0:0.0:1.0:0.0	.	2019;1842;2041;2019	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	K	2019;2041;2019;1842;633;641	ENSP00000446132:R2019K;ENSP00000381007:R2041K;ENSP00000228327:R2019K;ENSP00000266692:R1842K;ENSP00000448303:R641K	ENSP00000228327:R2019K	R	+	2	0	NAV3	77107961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.739000	0.98837	2.498000	0.84270	0.655000	0.94253	AGG		0.348	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78593173	78593173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:78593173C>T	ENST00000397909.2	+	37	6750	c.6577C>T	c.(6577-6579)Cga>Tga	p.R2193*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.R1994*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.R23*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.R2171*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.R2171*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2193						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2171*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGATATCTTCGAAGAAAACT	0.323										HNSCC(70;0.22)																											p.R2171X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6511T	12						.						87.0	87.0	87.0					12																	78593173		1816	4074	5890	77117304	SO:0001587	stop_gained	89795	exon36			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6577C>T	12.37:g.78593173C>T	ENSP00000381007:p.Arg2193*	Somatic		Capture	Illumina HiSeq	Phase_I	77117304	NM_014903	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.117612|5.117612	0.94385|0.94385	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788;ENST00000541270|ENST00000552895;ENST00000551162	.|.	.|.	.|.	5.71|5.71	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.33875|.	U|.	0.004475|.	.|T	.|0.65207	.|0.2669	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68985	.|-0.5265	.|3	0.02654|.	T|.	1|.	-8.5085|-8.5085	14.4118|14.4118	0.67119|0.67119	0.2126:0.7874:0.0:0.0|0.2126:0.7874:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2171;2193;2171;1994;785;793;23|1065;60	.|.	ENSP00000228327:R2171X|.	R|S	+|+	1|2	2|0	NAV3|NAV3	77117304|77117304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.225000|3.225000	0.51246|0.51246	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.323	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78593255	78593255	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:78593255C>T	ENST00000397909.2	+	37	6832	c.6659C>T	c.(6658-6660)aCg>aTg	p.T2220M	NAV3_ENST00000266692.7_Missense_Mutation_p.T2021M|NAV3_ENST00000541270.1_Missense_Mutation_p.T50M|NAV3_ENST00000228327.6_Missense_Mutation_p.T2198M|NAV3_ENST00000536525.2_Missense_Mutation_p.T2198M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2220						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T2198M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCCGAAGACGTGGCATCAT	0.353										HNSCC(70;0.22)																											p.T2198M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6593T	12						.						108.0	106.0	107.0					12																	78593255		1863	4096	5959	77117386	SO:0001583	missense	89795	exon36			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6659C>T	12.37:g.78593255C>T	ENSP00000381007:p.Thr2220Met	Somatic		Capture	Illumina HiSeq	Phase_I	77117386	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	13.81	2.349384	0.41599	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.42131	1.76;1.76;1.76;1.66;0.98	5.71	4.83	0.62350	.	0.168890	0.27253	N	0.020213	T	0.45236	0.1332	N	0.25647	0.755	0.41963	D	0.99071	B;P;B;D	0.63046	0.003;0.93;0.029;0.992	B;B;B;P	0.54706	0.001;0.407;0.007;0.759	T	0.49978	-0.8881	10	0.66056	D	0.02	-15.119	15.3342	0.74238	0.0:0.9328:0.0:0.0672	.	2198;2021;2220;2198	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	M	2198;2220;2198;2021;50	ENSP00000446132:T2198M;ENSP00000381007:T2220M;ENSP00000228327:T2198M;ENSP00000266692:T2021M;ENSP00000444918:T50M	ENSP00000228327:T2198M	T	+	2	0	NAV3	77117386	0.907000	0.30839	0.919000	0.36401	0.962000	0.63368	2.165000	0.42396	1.570000	0.49709	-0.133000	0.14855	ACG		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PPP1R12A	4659	broad.mit.edu	37	12	80187718	80187718	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80187718G>T	ENST00000450142.2	-	19	2850				PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000261207.5_Intron|PPP1R12A_ENST00000546369.1_Intron|PPP1R12A_ENST00000437004.2_Intron	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A						centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.?(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTAAAAACAGATTGCCAATT	0.274																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						88.0	78.0	81.0					12																	80187718		1786	4052	5838	78711849	SO:0001627	intron_variant	4659	.			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2584-10C>A	12.37:g.80187718G>T		Somatic		Capture	Illumina HiSeq	Phase_I	78711849	.	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Intron	SNP	ENST00000450142.2	37	CCDS44947.1																																																																																				0.274	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
OTOGL	283310	broad.mit.edu	37	12	80615989	80615989	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80615989G>T	ENST00000547103.1	+	6	432	c.426G>T	c.(424-426)aaG>aaT	p.K142N	OTOGL_ENST00000458043.2_Missense_Mutation_p.K142N			Q3ZCN5	OTOGL_HUMAN	otogelin-like	142	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.K142N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTTGCAAAGGACTGTGGTG	0.368																																					p.K142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	12						.						94.0	89.0	91.0					12																	80615989		1844	4102	5946	79140120	SO:0001583	missense	0	exon6			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.426G>T	12.37:g.80615989G>T	ENSP00000447211:p.Lys142Asn	Somatic		Capture	Illumina HiSeq	Phase_I	79140120	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	12.07	1.829089	0.32329	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.61510	0.1;0.1	5.5	3.62	0.41486	.	.	.	.	.	T	0.57873	0.2083	L	0.60904	1.88	0.39813	D	0.972732	.	.	.	.	.	.	T	0.54255	-0.8321	7	0.33940	T	0.23	.	6.6185	0.22790	0.4331:0.0:0.5669:0.0	.	.	.	.	N	142	ENSP00000447211:K142N;ENSP00000400895:K142N	ENSP00000400895:K142N	K	+	3	2	OTOGL	79140120	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.328000	0.43867	0.626000	0.30322	-0.142000	0.14014	AAG		0.368	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	broad.mit.edu	37	12	80632743	80632743	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80632743A>C	ENST00000547103.1	+	9	909	c.903A>C	c.(901-903)ggA>ggC	p.G301G	OTOGL_ENST00000458043.2_Silent_p.G301G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	301	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.G301G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCTCCAGTGGAATGCCAGCAT	0.383																																					p.G301G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A903C	12						.						71.0	71.0	71.0					12																	80632743		1888	4119	6007	79156874	SO:0001819	synonymous_variant	0	exon9			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.903A>C	12.37:g.80632743A>C		Somatic		Capture	Illumina HiSeq	Phase_I	79156874	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37																																																																																					0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	broad.mit.edu	37	12	80648297	80648297	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80648297C>A	ENST00000547103.1	+	14	1373				OTOGL_ENST00000458043.2_Intron			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTATAATTTCTTTTAGTGTG	0.284																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						90.0	88.0	89.0					12																	80648297		1786	4067	5853	79172428	SO:0001627	intron_variant	0	.			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1368-7C>A	12.37:g.80648297C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79172428	.	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37																																																																																					0.284	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	broad.mit.edu	37	12	80714207	80714207	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80714207G>T	ENST00000547103.1	+	33	3787	c.3781G>T	c.(3781-3783)Gca>Tca	p.A1261S	OTOGL_ENST00000458043.2_Missense_Mutation_p.A1261S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1261					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.A1261S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACAGCATTAGCACTTGTTTC	0.393																																					p.A1261S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3781T	12						.						75.0	73.0	74.0					12																	80714207		1922	4123	6045	79238338	SO:0001583	missense	0	exon33			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3781G>T	12.37:g.80714207G>T	ENSP00000447211:p.Ala1261Ser	Somatic		Capture	Illumina HiSeq	Phase_I	79238338	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	6.627	0.484197	0.12581	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.14893	2.48;2.47	5.53	3.54	0.40534	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	0.999996	.	.	.	.	.	.	T	0.37865	-0.9687	7	0.02654	T	1	.	6.4879	0.22099	0.0937:0.0:0.5595:0.3469	.	.	.	.	S	1261	ENSP00000447211:A1261S;ENSP00000400895:A1261S	ENSP00000400895:A1261S	A	+	1	0	OTOGL	79238338	0.162000	0.22906	0.149000	0.22428	0.393000	0.30537	0.733000	0.26087	2.613000	0.88420	0.655000	0.94253	GCA		0.393	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	broad.mit.edu	37	12	80761466	80761466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:80761466G>A	ENST00000547103.1	+	53	6400	c.6394G>A	c.(6394-6396)Ggc>Agc	p.G2132S	OTOGL_ENST00000458043.2_Missense_Mutation_p.G2144S|OTOGL_ENST00000546620.1_Missense_Mutation_p.G163S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2132					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.T551T(1)|p.G2144S(1)|p.G509S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAACCATACGGGCTTTCACAC	0.328																																					p.G2144S												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G6430A	12						.						64.0	62.0	63.0					12																	80761466		2201	4292	6493	79285597	SO:0001583	missense	0	exon53			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6394G>A	12.37:g.80761466G>A	ENSP00000447211:p.Gly2132Ser	Somatic		Capture	Illumina HiSeq	Phase_I	79285597	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	17.55	3.417408	0.62622	.	.	ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182	T;T;T;T	0.44083	2.27;2.27;2.18;0.93	5.53	4.64	0.57946	.	0.192203	0.43919	D	0.000507	T	0.53126	0.1777	L	0.52573	1.65	0.28454	N	0.916195	D	0.67145	0.996	P	0.60286	0.872	T	0.50474	-0.8824	10	0.32370	T	0.25	.	14.55	0.68059	0.0709:0.0:0.9291:0.0	.	509	Q3ZCN5	OTOGL_HUMAN	S	2132;2144;163;161	ENSP00000447211:G2132S;ENSP00000400895:G2144S;ENSP00000449094:G163S;ENSP00000449641:G161S	ENSP00000400895:G2144S	G	+	1	0	OTOGL	79285597	1.000000	0.71417	0.993000	0.49108	0.961000	0.63080	6.660000	0.74417	1.449000	0.47699	0.585000	0.79938	GGC		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
MYF5	4617	broad.mit.edu	37	12	81110899	81110899	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:81110899C>T	ENST00000228644.3	+	1	209	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	19					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S19S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ACGACGGCTCCTGCATACCGT	0.617																																					p.S19S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C57T	12						.						60.0	55.0	57.0					12																	81110899		2203	4300	6503	79635030	SO:0001819	synonymous_variant	4617	exon1				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.57C>T	12.37:g.81110899C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79635030	NM_005593	Q6ISR9	Silent	SNP	ENST00000228644.3	37	CCDS9020.1																																																																																				0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
PPFIA2	8499	broad.mit.edu	37	12	81655828	81655828	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:81655828G>T	ENST00000549396.1	-	32	3876				PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Intron|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000407050.4_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000550584.2_Intron|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000550359.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACTGCAAATGGAGAAAAGGG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						51.0	53.0	52.0					12																	81655828		1908	4117	6025	80179959	SO:0001627	intron_variant	8499	.			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3716-9C>A	12.37:g.81655828G>T		Somatic		Capture	Illumina HiSeq	Phase_I	80179959	.	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Intron	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				0.438	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	81688639	81688639	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:81688639G>T	ENST00000549396.1	-	24	3060	c.2900C>A	c.(2899-2901)cCt>cAt	p.P967H	PPFIA2_ENST00000552948.1_Missense_Mutation_p.P967H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P967H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P868H|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P952H|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P893H|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P184H|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P534H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P952H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550584.2_Missense_Mutation_p.P967H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P814H	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	967					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.P967H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGGAGCTGAAGGACTTGTTAG	0.453																																					p.P967H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2900A	12						.						118.0	116.0	116.0					12																	81688639		2012	4178	6190	80212770	SO:0001583	missense	8499	exon24			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2900C>A	12.37:g.81688639G>T	ENSP00000450337:p.Pro967His	Somatic		Capture	Illumina HiSeq	Phase_I	80212770	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670971|4.670971	0.88348|0.88348	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T;T;T	.|0.17854	.|2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Sterile alpha motif/pointed domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46678|0.46678	0.1405|0.1405	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.45041|0.45041	-0.9288|-0.9288	5|10	.|0.87932	.|D	.|0	-15.976|-15.976	19.6517|19.6517	0.95819|0.95819	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967	.|O75334	.|LIPA2_HUMAN	I|H	101|967;952;534;184;893;978;952;967;868;967	.|ENSP00000450337:P967H;ENSP00000450298:P952H;ENSP00000438337:P534H;ENSP00000445532:P184H;ENSP00000385093:P893H;ENSP00000327416:P952H;ENSP00000449338:P967H;ENSP00000388373:P868H;ENSP00000447868:P967H	.|ENSP00000327416:P952H	L|P	-|-	1|2	0|0	PPFIA2|PPFIA2	80212770|80212770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.453	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	81777951	81777951	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:81777951T>G	ENST00000549396.1	-	9	995	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	PPFIA2_ENST00000552948.1_Missense_Mutation_p.K279Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K279Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K180Q|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K261Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K205Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K261Q|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K279Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K126Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	279	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.K279Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAGTTTTGCTTTTCAAGCAAT	0.418																																					p.K279Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A835C	12						.						86.0	83.0	84.0					12																	81777951		1853	4098	5951	80302082	SO:0001583	missense	8499	exon9			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.835A>C	12.37:g.81777951T>G	ENSP00000450337:p.Lys279Gln	Somatic		Capture	Illumina HiSeq	Phase_I	80302082	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.733794|4.733794	0.89482|0.89482	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000548790|ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T	.|0.37235	.|1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59945|0.59945	0.2231|0.2231	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.981	.|D;D	.|0.80764	.|0.994;0.966	T|T	0.61028|0.61028	-0.7145|-0.7145	6|10	.|0.49607	.|T	.|0.09	-27.3402|-27.3402	16.066|16.066	0.80870|0.80870	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|179;279	.|B7Z4H8;O75334	.|.;LIPA2_HUMAN	N|Q	96|279;261;205;290;261;279;180;279	.|ENSP00000450337:K279Q;ENSP00000450298:K261Q;ENSP00000385093:K205Q;ENSP00000327416:K261Q;ENSP00000449338:K279Q;ENSP00000388373:K180Q;ENSP00000447868:K279Q	.|ENSP00000327416:K261Q	K|K	-|-	3|1	2|0	PPFIA2|PPFIA2	80302082|80302082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.182000|6.182000	0.71995|0.71995	2.196000|2.196000	0.70406|0.70406	0.455000|0.455000	0.32223|0.32223	AAA|AAG		0.418	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	81833835	81833835	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:81833835A>C	ENST00000549396.1	-	7	731				PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000548586.1_Intron|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000407050.4_Intron|PPFIA2_ENST00000545296.2_Intron|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000550584.2_Intron|PPFIA2_ENST00000550359.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTAGAAGAAAAATCAAAATA	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						70.0	64.0	66.0					12																	81833835		1854	4105	5959	80357966	SO:0001627	intron_variant	8499	.			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.571-10T>G	12.37:g.81833835A>C		Somatic		Capture	Illumina HiSeq	Phase_I	80357966	.	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Intron	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				0.383	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
SLC6A15	55117	broad.mit.edu	37	12	85267015	85267015	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85267015A>C	ENST00000266682.5	-	7	1501	c.960T>G	c.(958-960)ttT>ttG	p.F320L	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000309283.7_Missense_Mutation_p.F28L|SLC6A15_ENST00000552192.1_Missense_Mutation_p.F213L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	320					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.F320L(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TGTAGCTTGAAAAGGCAATGA	0.448																																					p.F320L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T960G	12						.						162.0	155.0	158.0					12																	85267015		2203	4300	6503	83791146	SO:0001583	missense	55117	exon7			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.960T>G	12.37:g.85267015A>C	ENSP00000266682:p.Phe320Leu	Somatic		Capture	Illumina HiSeq	Phase_I	83791146	NM_182767	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.325986|4.325986	0.81580|0.81580	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000551388|ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	.|T;T;T;T	.|0.73258	.|-0.73;-0.73;-0.73;-0.73	5.95|5.95	1.95|1.95	0.26073|0.26073	.|.	0.044876|0.044876	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70386|0.70386	0.3218|0.3218	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.988	.|P;P	.|0.60068	.|0.805;0.868	T|T	0.68303|0.68303	-0.5444|-0.5444	7|10	0.87932|0.46703	D|T	0|0.11	.|.	10.6114|10.6114	0.45423|0.45423	0.789:0.0:0.211:0.0|0.789:0.0:0.211:0.0	.|.	.|28;320	.|F8WJN6;Q9H2J7	.|.;S6A15_HUMAN	C|L	15|28;320;36;213;28;36	.|ENSP00000311645:F28L;ENSP00000266682:F320L;ENSP00000450145:F213L;ENSP00000449263:F36L	ENSP00000449619:F15C|ENSP00000266682:F320L	F|F	-|-	2|3	0|2	SLC6A15|SLC6A15	83791146|83791146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.206000|2.206000	0.42779|0.42779	0.509000|0.509000	0.28195|0.28195	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.448	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
SLC6A15	55117	broad.mit.edu	37	12	85267115	85267115	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85267115A>G	ENST00000266682.5	-	7	1409				SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000309283.7_5'Flank|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.?(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCTGTTTAAAAATAAACAT	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						62.0	67.0	66.0					12																	85267115		2203	4299	6502	83791246	SO:0001627	intron_variant	55117	.			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.868-8T>C	12.37:g.85267115A>G		Somatic		Capture	Illumina HiSeq	Phase_I	83791246	.	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Intron	SNP	ENST00000266682.5	37	CCDS9026.1																																																																																				0.338	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
SLC6A15	55117	broad.mit.edu	37	12	85270387	85270387	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85270387C>A	ENST00000266682.5	-	6	1298		c.e6-1		SLC6A15_ENST00000551388.1_Splice_Site|SLC6A15_ENST00000552192.1_Splice_Site	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.?(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATATATGATCTGCAAAGAAA	0.299																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						46.0	49.0	48.0					12																	85270387		2203	4297	6500	83794518	SO:0001630	splice_region_variant	55117	.			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.757-1G>T	12.37:g.85270387C>A		Somatic		Capture	Illumina HiSeq	Phase_I	83794518	.	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Splice_Site	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402081	0.42613	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC6A15	83794518	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	7.487000	0.81328	2.768000	0.95171	0.561000	0.74099	.		0.299	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	Intron
SLC6A15	55117	broad.mit.edu	37	12	85285638	85285638	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85285638G>T	ENST00000266682.5	-	2	803	c.262C>A	c.(262-264)Cca>Aca	p.P88T	SLC6A15_ENST00000450363.3_Missense_Mutation_p.P88T|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	88					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.P88T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CATAGGTATGGAAATCGCCAC	0.378																																					p.P88T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262A	12						.						79.0	74.0	76.0					12																	85285638		2203	4300	6503	83809769	SO:0001583	missense	55117	exon2			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.262C>A	12.37:g.85285638G>T	ENSP00000266682:p.Pro88Thr	Somatic		Capture	Illumina HiSeq	Phase_I	83809769	NM_018057	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893224	0.91889	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	D;D;D	0.91996	-2.95;-2.95;-2.95	5.73	5.73	0.89815	.	0.046258	0.85682	D	0.000000	D	0.97660	0.9233	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98158	1.0445	10	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	88;88	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	T	88	ENSP00000266682:P88T;ENSP00000390706:P88T;ENSP00000448308:P88T	ENSP00000266682:P88T	P	-	1	0	SLC6A15	83809769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	CCA		0.378	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
LRRIQ1	84125	broad.mit.edu	37	12	85450212	85450212	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85450212G>T	ENST00000393217.2	+	8	1702	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	547								p.E547D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCATAAATGAGAATACAGGAC	0.318																																					p.E547D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1641T	12						.						52.0	58.0	56.0					12																	85450212		2187	4264	6451	83974343	SO:0001583	missense	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1641G>T	12.37:g.85450212G>T	ENSP00000376910:p.Glu547Asp	Somatic		Capture	Illumina HiSeq	Phase_I	83974343	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673448	0.29693	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	4.74	-0.412	0.12367	.	1.089420	0.07268	N	0.868566	T	0.41442	0.1159	L	0.47716	1.5	0.09310	N	1	B;B	0.18863	0.011;0.031	B;B	0.18263	0.012;0.021	T	0.27468	-1.0073	10	0.23302	T	0.38	.	5.7538	0.18162	0.3657:0.0:0.5116:0.1227	.	547;522	Q96JM4;C9JI57	LRIQ1_HUMAN;.	D	547;522;547	ENSP00000376910:E547D	ENSP00000256007:E547D	E	+	3	2	LRRIQ1	83974343	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.805000	0.04530	-0.057000	0.13199	-0.218000	0.12543	GAG		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85450933C>T	ENST00000393217.2	+	8	2423	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	788								p.R788*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323																																					p.R788X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2362T	12						.						96.0	107.0	103.0					12																	85450933		2203	4300	6503	83975064	SO:0001587	stop_gained	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2362C>T	12.37:g.85450933C>T	ENSP00000376910:p.Arg788*	Somatic		Capture	Illumina HiSeq	Phase_I	83975064	NM_032165	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025996	0.98616	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.56	5.56	0.83823	.	0.541530	0.17226	N	0.182151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	17.713	0.88327	0.0:1.0:0.0:0.0	.	.	.	.	X	788;763;788	.	ENSP00000256007:R788X	R	+	1	2	LRRIQ1	83975064	0.829000	0.29322	0.826000	0.32828	0.814000	0.46013	2.885000	0.48570	2.613000	0.88420	0.591000	0.81541	CGA		0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85492663	85492663	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85492663C>A	ENST00000393217.2	+	13	3161	c.3100C>A	c.(3100-3102)Ctt>Att	p.L1034I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1034								p.L1034I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTGGAGAATCTTGTTTTACT	0.303																																					p.L1034I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3100A	12						.						80.0	82.0	81.0					12																	85492663		2202	4294	6496	84016794	SO:0001583	missense	84125	exon13			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3100C>A	12.37:g.85492663C>A	ENSP00000376910:p.Leu1034Ile	Somatic		Capture	Illumina HiSeq	Phase_I	84016794	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435469	0.25813	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.35048	1.33	5.4	5.4	0.78164	.	0.420651	0.25517	N	0.030121	T	0.35128	0.0921	L	0.58969	1.84	0.30237	N	0.795349	B;B	0.30664	0.289;0.289	B;B	0.25614	0.062;0.062	T	0.28839	-1.0031	10	0.26408	T	0.33	.	16.229	0.82321	0.0:0.8673:0.1327:0.0	.	1034;1009	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	1034;1009;1034	ENSP00000376910:L1034I	ENSP00000256007:L1034I	L	+	1	0	LRRIQ1	84016794	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.482000	0.60257	2.521000	0.84997	0.585000	0.79938	CTT		0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85497795	85497795	+	Missense_Mutation	SNP	G	G	A	rs146525952		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85497795G>A	ENST00000393217.2	+	14	3284	c.3223G>A	c.(3223-3225)Gta>Ata	p.V1075I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1075								p.V1075I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GACTAAAATCGTACCACTTTT	0.259																																					p.V1075I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3223A	12						.	G	ILE/VAL	0,4402		0,0,2201	65.0	63.0	64.0		3223	-2.9	0.0	12	dbSNP_134	64	2,8584	2.2+/-6.3	0,2,4291	no	missense	LRRIQ1	NM_001079910.1	29	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	benign	1075/1723	85497795	2,12986	2201	4293	6494	84021926	SO:0001583	missense	84125	exon14			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3223G>A	12.37:g.85497795G>A	ENSP00000376910:p.Val1075Ile	Somatic		Capture	Illumina HiSeq	Phase_I	84021926	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	4.975	0.181128	0.09443	0.0	2.33E-4	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.24538	1.85	5.07	-2.92	0.05615	.	1.225800	0.05912	N	0.631953	T	0.14960	0.0361	N	0.05608	-0.01	0.09310	N	1	B;B	0.18310	0.013;0.027	B;B	0.15052	0.003;0.012	T	0.28902	-1.0029	10	0.25106	T	0.35	.	16.1996	0.82060	0.1315:0.0:0.8685:0.0	.	1075;1050	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	1075;1050;1075	ENSP00000376910:V1075I	ENSP00000256007:V1075I	V	+	1	0	LRRIQ1	84021926	0.003000	0.15002	0.008000	0.14137	0.208000	0.24298	0.244000	0.18124	-0.867000	0.04063	0.585000	0.79938	GTA		0.259	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85517983	85517983	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85517983G>A	ENST00000393217.2	+	17	3754	c.3693G>A	c.(3691-3693)caG>caA	p.Q1231Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1231								p.Q1231H(2)|p.Q1231Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGAAGCCCAGAAAAATCATT	0.423																																					p.Q1231Q												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.G3693A	12						.						95.0	101.0	99.0					12																	85517983		2203	4300	6503	84042114	SO:0001819	synonymous_variant	84125	exon17			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3693G>A	12.37:g.85517983G>A		Somatic		Capture	Illumina HiSeq	Phase_I	84042114	NM_032165	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																				0.423	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85546925	85546925	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:85546925T>C	ENST00000393217.2	+	21	4602		c.e21+2			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1									p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATAGCAGGTAAGCTAAACT	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						86.0	81.0	83.0					12																	85546925		1826	4065	5891	84071056	SO:0001630	splice_region_variant	84125	.			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4541+2T>C	12.37:g.85546925T>C		Somatic		Capture	Illumina HiSeq	Phase_I	84071056	.	Q567P4|Q9BS17|Q9HA36	Splice_Site	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670091	0.29693	.	.	ENSG00000133640	ENST00000393217	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1363	0.72569	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRIQ1	84071056	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	3.869000	0.56062	2.044000	0.60594	0.528000	0.53228	.		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Intron
MGAT4C	25834	broad.mit.edu	37	12	86373821	86373822	+	Nonsense_Mutation	DNP	CG	CG	TA			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:86373821_86373822CG>TA	ENST00000604798.1	-	8	1886_1887	c.682_683CG>TA	c.(682-684)CGa>TAa	p.R228*	MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.R257*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	228					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R228*(2)|p.R228>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTTGAACATCGAACATCATCT	0.347																																					.												.	.	3	Substitution - Nonsense(2)|Complex(1)	large_intestine(2)|ovary(1)	c.682_683TA	12						NA																																			84897953	SO:0001587	stop_gained	25834	exon7				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.682_683delinsTA	12.37:g.86373821_86373822delinsTA	ENSP00000474896:p.Arg228*	Somatic		Capture	Illumina HiSeq	Phase_I	84897952	NM_013244	B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	DNP	ENST00000604798.1	37	CCDS9030.1																																																																																				0.347	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
CEP290	80184	broad.mit.edu	37	12	88487605	88487605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:88487605C>T	ENST00000552810.1	-	28	3594	c.3251G>A	c.(3250-3252)cGg>cAg	p.R1084Q	CEP290_ENST00000397838.3_Missense_Mutation_p.R144Q|CEP290_ENST00000547691.2_Missense_Mutation_p.R144Q|CEP290_ENST00000309041.7_Missense_Mutation_p.R1086Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1084					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1086Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAACGAAGTCCGTAAGTGTTC	0.308																																					p.R1084Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3251A	12						.						75.0	73.0	73.0					12																	88487605		1834	4090	5924	87011736	SO:0001583	missense	80184	exon28			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3251G>A	12.37:g.88487605C>T	ENSP00000448012:p.Arg1084Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87011736	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021863	0.54576	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.62498	0.58;0.02;0.02;0.58	5.51	3.66	0.41972	.	0.084065	0.85682	D	0.000000	T	0.53351	0.1791	M	0.62723	1.935	0.35694	D	0.81509	B	0.31893	0.345	B	0.29716	0.106	T	0.54262	-0.8320	10	0.10111	T	0.7	.	11.1703	0.48567	0.0:0.8592:0.0:0.1408	.	1084	O15078	CE290_HUMAN	Q	144;1084;1086;144	ENSP00000446905:R144Q;ENSP00000448012:R1084Q;ENSP00000308021:R1086Q;ENSP00000380938:R144Q	ENSP00000308021:R1086Q	R	-	2	0	CEP290	87011736	1.000000	0.71417	0.671000	0.29857	0.979000	0.70002	2.516000	0.45520	0.660000	0.30964	0.467000	0.42956	CGG		0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88533329	88533329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:88533329C>A	ENST00000552810.1	-	4	536	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	TMTC3_ENST00000266712.6_5'Flank|CEP290_ENST00000309041.7_Nonsense_Mutation_p.E65*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	65					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E65*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCCACTTCTTGAGCTTTC	0.299																																					p.E65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G193T	12						.						76.0	74.0	75.0					12																	88533329		1807	4069	5876	87057460	SO:0001587	stop_gained	80184	exon4			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.193G>T	12.37:g.88533329C>A	ENSP00000448012:p.Glu65*	Somatic		Capture	Illumina HiSeq	Phase_I	87057460	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957407	0.97145	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000550962;ENST00000552770	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.8157	0.92076	0.0:1.0:0.0:0.0	.	.	.	.	X	65;65;65;65;7	.	ENSP00000308021:E65X	E	-	1	0	CEP290	87057460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.956000	0.70315	2.424000	0.82194	0.655000	0.94253	GAA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ATP2B1	490	broad.mit.edu	37	12	90015367	90015367	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:90015367T>C	ENST00000428670.3	-	10	2002	c.1546A>G	c.(1546-1548)Aca>Gca	p.T516A	ATP2B1_ENST00000348959.3_Missense_Mutation_p.T516A|ATP2B1_ENST00000393164.2_Missense_Mutation_p.T259A|ATP2B1_ENST00000261173.2_Missense_Mutation_p.T516A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.T516A			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	516					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.T516A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAAATTCCTGTTACAAGATAG	0.274																																					p.T516A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1546G	12						.						70.0	72.0	72.0					12																	90015367		2202	4296	6498	88539498	SO:0001583	missense	490	exon9			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1546A>G	12.37:g.90015367T>C	ENSP00000392043:p.Thr516Ala	Somatic		Capture	Illumina HiSeq	Phase_I	88539498	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673075	0.29693	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.74	5.74	0.90152	.	0.169374	0.53938	D	0.000045	T	0.47507	0.1449	N	0.10664	0.02	0.45139	D	0.998151	B;B;B	0.19706	0.038;0.0;0.001	B;B;B	0.21708	0.036;0.004;0.014	T	0.43669	-0.9377	9	.	.	.	-13.7261	16.0337	0.80603	0.0:0.0:0.0:1.0	.	516;516;516	P20020-3;P20020-2;P20020-6	.;.;.	A	516;516;516;516;259	ENSP00000261173:T516A;ENSP00000343599:T516A;ENSP00000352054:T516A;ENSP00000392043:T516A;ENSP00000376869:T259A	.	T	-	1	0	ATP2B1	88539498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.064000	0.49986	2.188000	0.69820	0.460000	0.39030	ACA		0.274	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP2B1	490	broad.mit.edu	37	12	90035973	90035973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:90035973C>T	ENST00000428670.3	-	3	824	c.368G>A	c.(367-369)gGc>gAc	p.G123D	ATP2B1_ENST00000348959.3_Missense_Mutation_p.G123D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G123D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G123D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	123					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G123D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAAAGAAAGGCCCAATGATAC	0.353																																					p.G123D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	12						.						140.0	155.0	150.0					12																	90035973		2203	4299	6502	88560104	SO:0001583	missense	490	exon2			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.368G>A	12.37:g.90035973C>T	ENSP00000392043:p.Gly123Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88560104	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429018	0.83667	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.5	4.6	0.57074	.	0.048634	0.85682	D	0.000000	D	0.95313	0.8479	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.984	D	0.95922	0.8931	9	.	.	.	-22.6021	15.6457	0.77049	0.1385:0.8615:0.0:0.0	.	123;123	P20020-3;P20020-2	.;.	D	123	ENSP00000261173:G123D;ENSP00000343599:G123D;ENSP00000352054:G123D;ENSP00000392043:G123D	.	G	-	2	0	ATP2B1	88560104	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.772000	0.85439	1.298000	0.44778	-0.521000	0.04368	GGC		0.353	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
LUM	4060	broad.mit.edu	37	12	91502240	91502240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:91502240C>A	ENST00000266718.4	-	2	971	c.517G>T	c.(517-519)Gag>Tag	p.E173*	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	173					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.E173K(1)|p.E173*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ACAGCATCCTCTTTCAGCCGA	0.458																																					p.E173X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|skin(1)	c.G517T	12						.						101.0	102.0	102.0					12																	91502240		2203	4300	6503	90026371	SO:0001587	stop_gained	4060	exon2			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.517G>T	12.37:g.91502240C>A	ENSP00000266718:p.Glu173*	Somatic		Capture	Illumina HiSeq	Phase_I	90026371	NM_002345	B2R6R5|Q96QM7	Nonsense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	38	6.804789	0.97853	.	.	ENSG00000139329	ENST00000266718	.	.	.	5.6	5.6	0.85130	.	0.393101	0.27513	N	0.019022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9554	14.8285	0.70130	0.0:0.9292:0.0:0.0708	.	.	.	.	X	173	.	ENSP00000266718:E173X	E	-	1	0	LUM	90026371	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.250000	0.43178	2.648000	0.89879	0.557000	0.71058	GAG		0.458	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
DCN	1634	broad.mit.edu	37	12	91545438	91545438	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:91545438T>C	ENST00000052754.5	-	7	1379	c.878A>G	c.(877-879)tAc>tGc	p.Y293C	DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.Y146C|DCN_ENST00000552962.1_Missense_Mutation_p.Y293C|DCN_ENST00000393155.1_Missense_Mutation_p.Y293C|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.Y146C|DCN_ENST00000420120.2_Missense_Mutation_p.Y184C|DCN_ENST00000228329.5_Missense_Mutation_p.Y184C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	293					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.Y293C(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TACCTGGATGTACTTATGCTC	0.507																																					p.Y293C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	12						.						129.0	105.0	113.0					12																	91545438		2203	4300	6503	90069569	SO:0001583	missense	1634	exon7			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.878A>G	12.37:g.91545438T>C	ENSP00000052754:p.Tyr293Cys	Somatic		Capture	Illumina HiSeq	Phase_I	90069569	NM_001920	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759290	0.69763	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;4.31;3.63;3.63;4.31;4.31	5.47	5.47	0.80525	.	0.115754	0.64402	D	0.000010	T	0.22859	0.0552	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.79108	0.896;0.977;0.992	T	0.00531	-1.1686	10	0.49607	T	0.09	.	15.5042	0.75725	0.0:0.0:0.0:1.0	.	293;146;184	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	C	293;184;293;146;293;184;146;146	ENSP00000052754:Y293C;ENSP00000228329:Y184C;ENSP00000376862:Y293C;ENSP00000401021:Y146C;ENSP00000447654:Y293C;ENSP00000413723:Y184C;ENSP00000447674:Y146C;ENSP00000446530:Y146C	ENSP00000052754:Y293C	Y	-	2	0	DCN	90069569	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.249000	0.72427	2.203000	0.70933	0.482000	0.46254	TAC		0.507	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
EEA1	8411	broad.mit.edu	37	12	93171426	93171426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:93171426C>A	ENST00000322349.8	-	27	4171	c.3907G>T	c.(3907-3909)Gaa>Taa	p.E1303*		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1303					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.E1303*(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTTCACCTTCTCCTTTAAGA	0.348																																					p.E1303X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3907T	12						.						97.0	83.0	88.0					12																	93171426		2203	4300	6503	91695557	SO:0001587	stop_gained	8411	exon27			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3907G>T	12.37:g.93171426C>A	ENSP00000317955:p.Glu1303*	Somatic		Capture	Illumina HiSeq	Phase_I	91695557	NM_003566	Q14221	Nonsense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	44	11.172458	0.99526	.	.	ENSG00000102189	ENST00000322349	.	.	.	5.41	5.41	0.78517	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.188	0.93651	0.0:1.0:0.0:0.0	.	.	.	.	X	1303	.	ENSP00000317955:E1303X	E	-	1	0	EEA1	91695557	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	7.784000	0.85713	2.525000	0.85131	0.484000	0.47621	GAA		0.348	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
EEA1	8411	broad.mit.edu	37	12	93202825	93202825	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:93202825T>G	ENST00000322349.8	-	18	2571	c.2307A>C	c.(2305-2307)gaA>gaC	p.E769D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	769					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.E769D(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTTTACTCAATTCTGTGGCTC	0.363																																					p.E769D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2307C	12						.						138.0	122.0	127.0					12																	93202825		2203	4299	6502	91726956	SO:0001583	missense	8411	exon18			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2307A>C	12.37:g.93202825T>G	ENSP00000317955:p.Glu769Asp	Somatic		Capture	Illumina HiSeq	Phase_I	91726956	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828003	0.32329	.	.	ENSG00000102189	ENST00000322349	D	0.82711	-1.64	5.84	-2.44	0.06502	.	0.000000	0.51477	D	0.000096	T	0.72120	0.3421	L	0.36672	1.1	0.35516	D	0.801069	B	0.13145	0.007	B	0.12156	0.007	T	0.62025	-0.6941	10	0.38643	T	0.18	.	13.2239	0.59905	0.0:0.4955:0.0:0.5045	.	769	Q15075	EEA1_HUMAN	D	769	ENSP00000317955:E769D	ENSP00000317955:E769D	E	-	3	2	EEA1	91726956	0.021000	0.18746	0.068000	0.19968	0.553000	0.35397	-0.312000	0.08113	-0.305000	0.08831	-0.256000	0.11100	GAA		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
EEA1	8411	broad.mit.edu	37	12	93246068	93246068	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:93246068T>C	ENST00000322349.8	-	8	789	c.525A>G	c.(523-525)atA>atG	p.I175M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	175					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.I175M(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACTTTGACTTTATATCTAATT	0.313																																					p.I175M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A525G	12						.						58.0	57.0	57.0					12																	93246068		2203	4300	6503	91770199	SO:0001583	missense	8411	exon8			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.525A>G	12.37:g.93246068T>C	ENSP00000317955:p.Ile175Met	Somatic		Capture	Illumina HiSeq	Phase_I	91770199	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315684	0.40996	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.67865	-0.29	5.67	0.167	0.15006	.	0.330728	0.25241	N	0.032091	T	0.46268	0.1384	L	0.27053	0.805	0.33141	D	0.544352	B	0.34103	0.437	B	0.32149	0.141	T	0.47923	-0.9079	10	0.31617	T	0.26	.	8.1184	0.30957	0.5116:0.0:0.1045:0.384	.	175	Q15075	EEA1_HUMAN	M	175;174	ENSP00000317955:I175M	ENSP00000317955:I175M	I	-	3	3	EEA1	91770199	0.990000	0.36364	0.977000	0.42913	0.939000	0.58152	0.145000	0.16157	-0.213000	0.10094	0.523000	0.50628	ATA		0.313	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
EEA1	8411	broad.mit.edu	37	12	93247690	93247690	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:93247690C>T	ENST00000322349.8	-	6	671		c.e6+1			NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1						early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGTAAAGTTACCTGCTGATGA	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						45.0	42.0	43.0					12																	93247690		2203	4297	6500	91771821	SO:0001630	splice_region_variant	8411	.			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.406+1G>A	12.37:g.93247690C>T		Somatic		Capture	Illumina HiSeq	Phase_I	91771821	.	Q14221	Splice_Site	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400032	0.83120	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3667	0.83331	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEA1	91771821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.899000	0.63245	2.636000	0.89361	0.591000	0.81541	.		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	Intron
PLXNC1	10154	broad.mit.edu	37	12	94603492	94603492	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:94603492G>T	ENST00000258526.4	+	5	1803					NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TAAGAGGAAAGATTTTAATTT	0.348																																					.												.	.	0			.	12						.						61.0	63.0	62.0					12																	94603492		2203	4300	6503	93127623	SO:0001627	intron_variant	10154	.			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1554+12G>T	12.37:g.94603492G>T		Somatic		Capture	Illumina HiSeq	Phase_I	93127623	.	Q59H25	Intron	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLXNC1	10154	broad.mit.edu	37	12	94641681	94641681	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:94641681C>A	ENST00000258526.4	+	13	2640	c.2391C>A	c.(2389-2391)gtC>gtA	p.V797V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	797					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V797V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTCCAGGTCTCTGAATATT	0.423																																					p.V797V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2391A	12						.						123.0	129.0	127.0					12																	94641681		2203	4300	6503	93165812	SO:0001819	synonymous_variant	10154	exon13			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2391C>A	12.37:g.94641681C>A		Somatic		Capture	Illumina HiSeq	Phase_I	93165812	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLXNC1	10154	broad.mit.edu	37	12	94702610	94702610	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:94702610T>C	ENST00000258526.4	+	0	7346				CCDC41_ENST00000339839.5_Silent_p.E695E|CCDC41_ENST00000397809.5_Silent_p.E695E	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.E695E(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGATCCAAGTTCCTCTAGTT	0.393																																					p.E695E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2085G	12						.						211.0	189.0	196.0					12																	94702610		1868	4105	5973	93226741	SO:0001628	intergenic_variant	51134	exon16			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235		12.37:g.94702610T>C		Somatic		Capture	Illumina HiSeq	Phase_I	93226741	NM_001042399	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
USP44	84101	broad.mit.edu	37	12	95927486	95927486	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:95927486T>G	ENST00000258499.3	-	2	835	c.547A>C	c.(547-549)Aaa>Caa	p.K183Q	USP44_ENST00000552440.1_Missense_Mutation_p.K183Q|USP44_ENST00000393091.2_Missense_Mutation_p.K183Q|USP44_ENST00000537435.2_Missense_Mutation_p.K183Q	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	183					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K183Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACTACTATTTTTTCCTGAAAT	0.358																																					p.K183Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A547C	12						.						79.0	80.0	80.0					12																	95927486		2203	4300	6503	94451617	SO:0001583	missense	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.547A>C	12.37:g.95927486T>G	ENSP00000258499:p.Lys183Gln	Somatic		Capture	Illumina HiSeq	Phase_I	94451617	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632530	0.29068	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.14640	3.73;3.73;2.49;3.73	5.0	3.68	0.42216	.	0.208904	0.47852	D	0.000204	T	0.10165	0.0249	L	0.47716	1.5	0.25870	N	0.983725	B	0.12630	0.006	B	0.14578	0.011	T	0.14671	-1.0464	10	0.28530	T	0.3	.	3.3338	0.07093	0.0:0.3652:0.0:0.6348	.	183	Q9H0E7	UBP44_HUMAN	Q	183	ENSP00000258499:K183Q;ENSP00000376806:K183Q;ENSP00000448670:K183Q;ENSP00000442629:K183Q	ENSP00000258499:K183Q	K	-	1	0	USP44	94451617	1.000000	0.71417	0.955000	0.39395	0.794000	0.44872	4.342000	0.59341	2.002000	0.58637	0.459000	0.35465	AAA		0.358	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
NTN4	59277	broad.mit.edu	37	12	96181127	96181127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96181127C>T	ENST00000343702.4	-	2	623	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	NTN4_ENST00000553059.1_Missense_Mutation_p.E59K|NTN4_ENST00000344911.4_Missense_Mutation_p.E22K|NTN4_ENST00000538383.1_Missense_Mutation_p.E22K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	59	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.E59K(2)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGTACAGTTCGGTAGCATTC	0.537																																					p.E59K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G175A	12						.						101.0	80.0	87.0					12																	96181127		2203	4300	6503	94705258	SO:0001583	missense	59277	exon2			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.175G>A	12.37:g.96181127C>T	ENSP00000340998:p.Glu59Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94705258	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129331	0.94473	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.77	5.77	0.91146	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.94001	0.7275	10	0.62326	D	0.03	.	19.9883	0.97356	0.0:1.0:0.0:0.0	.	59;59	Q9HB63-2;Q9HB63	.;NET4_HUMAN	K	59;22;22;59;22	ENSP00000340998:E59K;ENSP00000339436:E22K;ENSP00000444432:E22K;ENSP00000447292:E59K;ENSP00000447594:E22K	ENSP00000340998:E59K	E	-	1	0	NTN4	94705258	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	7.294000	0.78760	2.722000	0.93159	0.555000	0.69702	GAA		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
CCDC38	120935	broad.mit.edu	37	12	96273567	96273567	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96273567C>A	ENST00000344280.3	-	12	1554	c.997G>T	c.(997-999)Gca>Tca	p.A333S	SNRPF_ENST00000553192.1_3'UTR|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	333								p.A333S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATAAAGTGCTGGCTCCTAA	0.343																																					p.A333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997T	12						.						100.0	105.0	103.0					12																	96273567		2203	4300	6503	94797698	SO:0001583	missense	120935	exon12			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.997G>T	12.37:g.96273567C>A	ENSP00000345470:p.Ala333Ser	Somatic		Capture	Illumina HiSeq	Phase_I	94797698	NM_182496	Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218737	0.39201	.	.	ENSG00000165972	ENST00000344280	T	0.41400	1.0	6.03	5.14	0.70334	.	0.301502	0.35903	N	0.002909	T	0.27559	0.0677	N	0.19112	0.55	0.80722	D	1	B	0.20261	0.043	B	0.11329	0.006	T	0.05533	-1.0879	9	.	.	.	-13.3481	13.6611	0.62368	0.0:0.9252:0.0:0.0748	.	333	Q502W7	CCD38_HUMAN	S	333	ENSP00000345470:A333S	.	A	-	1	0	CCDC38	94797698	1.000000	0.71417	0.993000	0.49108	0.312000	0.27988	3.464000	0.53057	2.868000	0.98415	0.555000	0.69702	GCA		0.343	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	
CCDC38	120935	broad.mit.edu	37	12	96292250	96292250	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96292250A>C	ENST00000344280.3	-	7	1091				SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38									p.?(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCCCTGAAAAGCAATGAAGA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						247.0	211.0	223.0					12																	96292250		2203	4300	6503	94816381	SO:0001627	intron_variant	120935	.			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.534-7T>G	12.37:g.96292250A>C		Somatic		Capture	Illumina HiSeq	Phase_I	94816381	.	Q8N835	Intron	SNP	ENST00000344280.3	37	CCDS9056.1																																																																																				0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	
AMDHD1	144193	broad.mit.edu	37	12	96356153	96356153	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96356153G>A	ENST00000266736.2	+	6	940	c.834G>A	c.(832-834)gcG>gcA	p.A278A		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	278					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.A278A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AACTGGGAGCGCAGGCAATCA	0.502																																					p.A278A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	12						.						95.0	80.0	85.0					12																	96356153		2203	4300	6503	94880284	SO:0001819	synonymous_variant	144193	exon6			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.834G>A	12.37:g.96356153G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94880284	NM_152435	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																				0.502	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
HAL	3034	broad.mit.edu	37	12	96370451	96370451	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96370451C>T	ENST00000261208.3	-	19	2056	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	HAL_ENST00000541929.1_Missense_Mutation_p.G355D|HAL_ENST00000538703.1_Missense_Mutation_p.G563D	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	563					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.G563D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAACTCTATGCCCTGGCAGGC	0.473																																					p.G563D	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688A	12						.						76.0	75.0	75.0					12																	96370451		2203	4300	6503	94894582	SO:0001583	missense	3034	exon19				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1688G>A	12.37:g.96370451C>T	ENSP00000261208:p.Gly563Asp	Somatic		Capture	Illumina HiSeq	Phase_I	94894582	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712847	0.89112	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.79940	-1.32;-1.32;-1.32	5.22	5.22	0.72569	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91882	0.7430	M	0.91818	3.245	0.80722	D	1	D;D	0.69078	0.997;0.989	D;D	0.71656	0.964;0.974	D	0.93599	0.6928	10	0.87932	D	0	-19.2306	18.7996	0.92010	0.0:1.0:0.0:0.0	.	563;563	F5GXF2;P42357	.;HUTH_HUMAN	D	563;355;563	ENSP00000261208:G563D;ENSP00000446364:G355D;ENSP00000440861:G563D	ENSP00000261208:G563D	G	-	2	0	HAL	94894582	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.487000	0.81328	2.443000	0.82685	0.655000	0.94253	GGC		0.473	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
CDK17	5128	broad.mit.edu	37	12	96707233	96707233	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96707233C>A	ENST00000261211.3	-	4	887		c.e4-1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGAACAATATCTATATCAAAA	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						49.0	45.0	47.0					12																	96707233		2203	4300	6503	95231364	SO:0001630	splice_region_variant	5128	.				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.284-1G>T	12.37:g.96707233C>A		Somatic		Capture	Illumina HiSeq	Phase_I	95231364	.	A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063924	0.76187	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666;ENST00000551816;ENST00000552496;ENST00000548734	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95231364	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	7.486000	0.81215	2.617000	0.88574	0.557000	0.71058	.		0.323	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron
CDK17	5128	broad.mit.edu	37	12	96717748	96717748	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:96717748C>A	ENST00000261211.3	-	3	864	c.261G>T	c.(259-261)atG>atT	p.M87I	CDK17_ENST00000542666.1_Missense_Mutation_p.M34I|CDK17_ENST00000543119.2_Missense_Mutation_p.M87I	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	87					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.M87I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CATTTCTGGGCATTGCCATGA	0.428																																					p.M87I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G261T	12						.						73.0	69.0	70.0					12																	96717748		2203	4300	6503	95241879	SO:0001583	missense	5128	exon3				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.261G>T	12.37:g.96717748C>A	ENSP00000261211:p.Met87Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95241879	NM_002595	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059273	0.36373	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;1.0;1.0;0.92	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	N	0.08118	0	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35101	-0.9802	10	0.18276	T	0.48	-10.4826	15.1126	0.72372	0.0:0.932:0.0:0.068	.	87;87	A8K1U6;Q00537	.;CDK17_HUMAN	I	87;87;34;87;87;107;87	ENSP00000261211:M87I;ENSP00000444459:M87I;ENSP00000442926:M34I;ENSP00000450058:M87I;ENSP00000447282:M87I;ENSP00000447441:M107I	ENSP00000261211:M87I	M	-	3	0	CDK17	95241879	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.516000	0.81772	1.579000	0.49836	0.650000	0.86243	ATG		0.428	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	
NEDD1	121441	broad.mit.edu	37	12	97334179	97334179	+	Intron	SNP	C	C	T	rs376668036		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:97334179C>T	ENST00000266742.4	+	10	1456				NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000457368.2_Intron|NEDD1_ENST00000557644.1_Intron|NEDD1_ENST00000429527.2_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATATCTAATTCCTATAAGGTT	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.	C	,,,	2,4404		0,2,2201	57.0	60.0	59.0		,,,	-0.4	0.0	12		59	0,8596		0,0,4298	no	intron,intron,intron,intron	NEDD1	NM_001135175.1,NM_001135176.1,NM_001135177.1,NM_152905.3	,,,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,,,	,,,	97334179	2,13000	2203	4298	6501	95858310	SO:0001627	intron_variant	121441	.				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1118-8C>T	12.37:g.97334179C>T		Somatic		Capture	Illumina HiSeq	Phase_I	95858310	.	B0AZN0|B4E145|G3V3F1|Q8NA30	Intron	SNP	ENST00000266742.4	37	CCDS9063.1																																																																																				0.289	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
NEDD1	121441	broad.mit.edu	37	12	97345254	97345254	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:97345254T>G	ENST00000266742.4	+	15	2195	c.1856T>G	c.(1855-1857)aTt>aGt	p.I619S	NEDD1_ENST00000411739.2_Missense_Mutation_p.I530S|NEDD1_ENST00000457368.2_Missense_Mutation_p.I530S|NEDD1_ENST00000557644.1_Missense_Mutation_p.I626S|NEDD1_ENST00000429527.2_Missense_Mutation_p.I619S	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	619					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.I619S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GTGGAGATGATTAAACAGTTT	0.289																																					p.I619S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1856G	12						.						79.0	81.0	80.0					12																	97345254		2203	4291	6494	95869385	SO:0001583	missense	121441	exon15				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1856T>G	12.37:g.97345254T>G	ENSP00000266742:p.Ile619Ser	Somatic		Capture	Illumina HiSeq	Phase_I	95869385	NM_152905	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323454	0.81580	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.56611	0.45;0.45;1.15;0.45;1.15	5.93	5.93	0.95920	.	0.098289	0.64402	D	0.000001	T	0.70640	0.3247	M	0.62723	1.935	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.941	T	0.73347	-0.4011	10	0.87932	D	0	.	16.3736	0.83374	0.0:0.0:0.0:1.0	.	626;619	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	S	619;619;530;626;530	ENSP00000266742:I619S;ENSP00000404978:I619S;ENSP00000411307:I530S;ENSP00000451211:I626S;ENSP00000407964:I530S	ENSP00000266742:I619S	I	+	2	0	NEDD1	95869385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.507000	0.60434	2.273000	0.75805	0.482000	0.46254	ATT		0.289	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
RMST	196475	broad.mit.edu	37	12	97957670	97957670	+	RNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:97957670A>G	ENST00000538559.2	+	0	2141				MIR135A2_ENST00000384854.1_RNA					rhabdomyosarcoma 2 associated transcript (non-protein coding)																		GGAAGCCATGAAATACATTGT	0.373																																					.												.	.	0			.	12						.						68.0	56.0	59.0					12																	97957670		1564	3570	5134	96481801			406926	.			AK056164		12q23.1	2012-10-16	2007-11-20		ENSG00000255794	ENSG00000255794		"""Long non-coding RNAs"""	29893	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 54"", ""long intergenic non-protein coding RNA 54"""	607045				12082533, 20062813	Standard	NR_024037		Approved	NCRMS, NCRNA00054, LINC00054	uc001tey.1		OTTHUMG00000170148		12.37:g.97957670A>G		Somatic		Capture	Illumina HiSeq	Phase_I	96481801	.		RNA	SNP	ENST00000538559.2	37																																																																																					0.373	RMST-003	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000407671.1	NR_024037	
TMPO	7112	broad.mit.edu	37	12	98931318	98931318	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:98931318A>G	ENST00000556029.1	+	4	987	c.631A>G	c.(631-633)Aca>Gca	p.T211A	TMPO_ENST00000393053.2_Missense_Mutation_p.T211A|TMPO_ENST00000261210.5_Missense_Mutation_p.T211A|TMPO_ENST00000343315.5_Missense_Mutation_p.T211A	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	211	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.T211A(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GACTCCAGTAACACTCAAGCA	0.388																																					p.T211A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A631G	12						.						106.0	98.0	101.0					12																	98931318		2203	4300	6503	97455449	SO:0001583	missense	7112	exon4				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.631A>G	12.37:g.98931318A>G	ENSP00000450627:p.Thr211Ala	Somatic		Capture	Illumina HiSeq	Phase_I	97455449	NM_001032283	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582869	0.46006	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T	0.75821	0.15;0.03;-0.17;-0.94;-0.97	5.76	4.59	0.56863	.	.	.	.	.	T	0.65964	0.2742	L	0.61218	1.895	0.37499	D	0.916678	B;B;B	0.30870	0.134;0.298;0.006	B;B;B	0.22152	0.018;0.038;0.002	T	0.66023	-0.6026	9	0.45353	T	0.12	.	6.2967	0.21089	0.7572:0.0:0.1132:0.1296	.	244;211;211	Q59G12;P42167;A2T926	.;LAP2B_HUMAN;.	A	211;211;211;211;118	ENSP00000450627:T211A;ENSP00000340251:T211A;ENSP00000376773:T211A;ENSP00000261210:T211A;ENSP00000451552:T118A	ENSP00000261210:T211A	T	+	1	0	TMPO	97455449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.694000	0.37752	0.969000	0.38237	0.528000	0.53228	ACA		0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
TMPO	7112	broad.mit.edu	37	12	98941582	98941582	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:98941582C>T	ENST00000556029.1	+	9	1667	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	TMPO_ENST00000393053.2_Silent_p.N328N|TMPO_ENST00000343315.5_Silent_p.N397N|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	437						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.N437N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGAAACCAACCAAGTAAATC	0.368																																					p.N437N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1311T	12						.						130.0	135.0	133.0					12																	98941582		2203	4300	6503	97465713	SO:0001819	synonymous_variant	7112	exon9				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1311C>T	12.37:g.98941582C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97465713	NM_001032283	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																				0.368	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
APAF1	317	broad.mit.edu	37	12	99056319	99056319	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:99056319G>T	ENST00000551964.1	+	6	1532	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	APAF1_ENST00000552268.1_Missense_Mutation_p.D266Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D266Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D266Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D266Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D255Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D255Y|APAF1_ENST00000333991.1_Missense_Mutation_p.D266Y|APAF1_ENST00000357310.1_Missense_Mutation_p.D266Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	266	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.D266Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TACAACCAGAGACAAGAGTGT	0.313																																					p.D255Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G763T	12						.						114.0	111.0	112.0					12																	99056319		2203	4300	6503	97580450	SO:0001583	missense	317	exon6			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.796G>T	12.37:g.99056319G>T	ENSP00000448165:p.Asp266Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	97580450	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819196	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.87	5.87	0.94306	NB-ARC (1);	0.084638	0.85682	D	0.000000	D	0.87148	0.6105	M	0.64170	1.965	0.54753	D	0.999983	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.998	P;D;D;D;D	0.91635	0.864;0.995;0.999;0.999;0.932	D	0.84470	0.0599	10	0.36615	T	0.2	-7.7563	20.206	0.98277	0.0:0.0:1.0:0.0	.	266;266;255;266;255	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	266;255;266;266;266;266;255;266;266	ENSP00000448165:D266Y;ENSP00000353059:D255Y;ENSP00000349862:D266Y;ENSP00000341830:D266Y;ENSP00000334558:D266Y;ENSP00000448826:D266Y;ENSP00000448449:D255Y;ENSP00000449791:D266Y;ENSP00000448161:D266Y	ENSP00000334558:D266Y	D	+	1	0	APAF1	97580450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.967000	0.70403	2.785000	0.95823	0.655000	0.94253	GAC		0.313	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
APAF1	317	broad.mit.edu	37	12	99060074	99060074	+	Missense_Mutation	SNP	G	G	A	rs201872620		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:99060074G>A	ENST00000551964.1	+	9	2037	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.R434H|APAF1_ENST00000549007.1_Missense_Mutation_p.R434H|APAF1_ENST00000547045.1_Missense_Mutation_p.R434H|APAF1_ENST00000550527.1_Missense_Mutation_p.R423H|APAF1_ENST00000359972.2_Missense_Mutation_p.R423H|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.R434H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	434					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.R434H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AAGTCGTTTCGTTATTATTTA	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0				p.R423H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268A	12						.						115.0	122.0	119.0					12																	99060074		2203	4300	6503	97584205	SO:0001583	missense	317	exon9			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1301G>A	12.37:g.99060074G>A	ENSP00000448165:p.Arg434His	Somatic		Capture	Illumina HiSeq	Phase_I	97584205	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.826	0.938805	0.18281	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.61274	0.12;0.26;0.21;0.32;0.12;0.21;0.32	5.77	-4.69	0.03299	.	1.159960	0.05847	N	0.620439	T	0.26593	0.0650	N	0.11560	0.145	0.09310	N	0.999996	B;B;B;B	0.27068	0.0;0.0;0.0;0.167	B;B;B;B	0.12156	0.0;0.0;0.0;0.007	T	0.09228	-1.0684	10	0.14252	T	0.57	-9.4533	1.7688	0.03008	0.4695:0.1895:0.1338:0.2073	.	434;423;434;423	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	H	434;423;434;434;423;434;434	ENSP00000448165:R434H;ENSP00000353059:R423H;ENSP00000349862:R434H;ENSP00000341830:R434H;ENSP00000448449:R423H;ENSP00000449791:R434H;ENSP00000448161:R434H	ENSP00000341830:R434H	R	+	2	0	APAF1	97584205	0.017000	0.18338	0.176000	0.23000	0.972000	0.66771	-0.147000	0.10234	-1.103000	0.03019	-0.225000	0.12378	CGT		0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
ANKS1B	56899	broad.mit.edu	37	12	99139510	99139510	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:99139510G>A	ENST00000547776.2	-	25	3672				ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_3'UTR|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549025.2_3'UTR|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000333732.7_3'UTR|ANKS1B_ENST00000547446.1_3'UTR|ANKS1B_ENST00000550693.2_3'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGAGGACGGCGAGTATCAG	0.592																																					.												.	.	0			.	12						.						82.0	92.0	89.0					12																	99139510		1979	4149	6128	97663641	SO:0001627	intron_variant	56899	.			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3672+5622C>T	12.37:g.99139510G>A		Somatic		Capture	Illumina HiSeq	Phase_I	97663641	.	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Intron	SNP	ENST00000547776.2	37	CCDS55872.1																																																																																				0.592	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
ANKS1B	56899	broad.mit.edu	37	12	99640604	99640604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:99640604C>A	ENST00000547776.2	-	13	1794	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.E599*|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.E179*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	599						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E599*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGATCATATTCTTTTGGGGGA	0.458																																					p.E599X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1795T	12						.						148.0	141.0	143.0					12																	99640604		1876	4104	5980	98164735	SO:0001587	stop_gained	56899	exon13			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1795G>T	12.37:g.99640604C>A	ENSP00000449629:p.Glu599*	Somatic		Capture	Illumina HiSeq	Phase_I	98164735	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430115	0.96131	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	.	.	.	5.62	5.62	0.85841	.	0.321794	0.31404	N	0.007701	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3301	18.2041	0.89848	0.0:1.0:0.0:0.0	.	.	.	.	X	599;179;599;178	.	.	E	-	1	0	ANKS1B	98164735	1.000000	0.71417	0.996000	0.52242	0.645000	0.38454	2.323000	0.43823	2.813000	0.96785	0.561000	0.74099	GAA		0.458	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
FAM71C	196472	broad.mit.edu	37	12	100042458	100042458	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100042458T>G	ENST00000324341.1	+	1	928	c.506T>G	c.(505-507)cTt>cGt	p.L169R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	169								p.L169R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGGGAAAACCTTGTTTACATC	0.502																																					p.L169R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T506G	12						.						63.0	53.0	56.0					12																	100042458		2203	4300	6503	98566589	SO:0001583	missense	196472	exon1				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.506T>G	12.37:g.100042458T>G	ENSP00000315247:p.Leu169Arg	Somatic		Capture	Illumina HiSeq	Phase_I	98566589	NM_153364	B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354314	0.61293	.	.	ENSG00000180219	ENST00000324341	T	0.25749	1.78	3.83	3.83	0.44106	.	0.000000	0.53938	D	0.000041	T	0.55114	0.1900	M	0.91818	3.245	0.26314	N	0.97777	D	0.89917	1.0	D	0.91635	0.999	T	0.52487	-0.8569	9	.	.	.	-17.7209	9.2711	0.37673	0.0:0.0:0.0:1.0	.	169	Q8NEG0	FA71C_HUMAN	R	169	ENSP00000315247:L169R	.	L	+	2	0	FAM71C	98566589	0.169000	0.23002	0.812000	0.32479	0.979000	0.70002	1.468000	0.35332	1.960000	0.56953	0.454000	0.30748	CTT		0.502	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364	
ANKS1B	56899	broad.mit.edu	37	12	100166742	100166742	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100166742C>A	ENST00000547776.2	-	8	1085	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	ANKS1B_ENST00000329257.7_Missense_Mutation_p.K362N|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	362						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.K362N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCTCTGAAATCTTGCTCAAAT	0.393																																					p.K362N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1086T	12						.						133.0	129.0	131.0					12																	100166742		1867	4107	5974	98690873	SO:0001583	missense	56899	exon8			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1086G>T	12.37:g.100166742C>A	ENSP00000449629:p.Lys362Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98690873	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860671	0.51482	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.51325	0.76;0.76;0.71	5.47	5.47	0.80525	.	0.067226	0.64402	D	0.000014	T	0.52191	0.1719	L	0.36672	1.1	0.80722	D	1	D;P	0.65815	0.995;0.956	D;B	0.63877	0.919;0.275	T	0.46386	-0.9195	9	.	.	.	-10.1634	8.804	0.34927	0.0:0.8726:0.0:0.1274	.	328;362	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	N	362;362;328	ENSP00000449629:K362N;ENSP00000331381:K362N;ENSP00000449894:K328N	.	K	-	3	2	ANKS1B	98690873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.767000	0.38501	2.748000	0.94277	0.655000	0.94253	AAG		0.393	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
UHRF1BP1L	23074	broad.mit.edu	37	12	100482885	100482885	+	Intron	SNP	C	C	T	rs375088488		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100482885C>T	ENST00000279907.7	-	8	1053				UHRF1BP1L_ENST00000356828.3_Intron|UHRF1BP1L_ENST00000545232.2_Intron	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAAAAGATTCGAAACTGCCT	0.348																																					.												.	.	0			.	12						.	T	,	9,4397	12.9+/-30.5	0,9,2194	67.0	66.0	66.0		,	-3.1	0.0	12		66	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron	UHRF1BP1L	NM_001006947.1,NM_015054.1	,	0,10,6493	TT,TC,CC		0.0116,0.2043,0.0769	,	,	100482885	10,12996	2203	4300	6503	99007016	SO:0001627	intron_variant	23074	.				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.841-12G>A	12.37:g.100482885C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99007016	.	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Intron	SNP	ENST00000279907.7	37	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
DEPDC4	120863	broad.mit.edu	37	12	100656122	100656122	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100656122A>C	ENST00000416321.1	-	3	622	c.620T>G	c.(619-621)cTt>cGt	p.L207R		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	207					intracellular signal transduction (GO:0035556)			p.L207R(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TGTATGAATAAGTTCCTCAAT	0.328																																					p.L207R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T620G	12						.						106.0	101.0	103.0					12																	100656122		2203	4299	6502	99180253	SO:0001583	missense	120863	exon3			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.620T>G	12.37:g.100656122A>C	ENSP00000396234:p.Leu207Arg	Somatic		Capture	Illumina HiSeq	Phase_I	99180253	NM_152317	Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	CCDS9075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.211|7.211	0.595439|0.595439	0.13875|0.13875	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642|ENST00000548313	T;T;T;T|.	0.41758|.	1.3;1.35;0.99;1.31|.	4.36|4.36	3.21|3.21	0.36854|0.36854	.|.	0.325774|0.325774	0.28859|0.28859	U|U	0.013917|0.013917	T|T	0.44117|0.44117	0.1278|0.1278	L|L	0.58101|0.58101	1.795|1.795	0.21579|0.21579	N|N	0.999638|0.999638	P;P;D;P|.	0.55385|.	0.94;0.94;0.971;0.845|.	P;P;P;P|.	0.50440|.	0.605;0.605;0.641;0.467|.	T|T	0.36114|0.36114	-0.9761|-0.9761	10|7	0.72032|0.62326	D|D	0.01|0.03	.|.	7.1738|7.1738	0.25732|0.25732	0.8941:0.0:0.1059:0.0|0.8941:0.0:0.1059:0.0	.|.	207;207;140;207|.	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3|.	.;.;.;DEPD4_HUMAN|.	R|V	207;140;207;207;140;200|5	ENSP00000396234:L207R;ENSP00000448385:L207R;ENSP00000448338:L140R;ENSP00000449590:L200R|.	ENSP00000367490:L207R|ENSP00000448728:L5V	L|L	-|-	2|1	0|2	DEPDC4|DEPDC4	99180253|99180253	0.914000|0.914000	0.31030|0.31030	0.063000|0.063000	0.19743|0.19743	0.245000|0.245000	0.25701|0.25701	1.418000|1.418000	0.34782|0.34782	0.550000|0.550000	0.28991|0.28991	0.421000|0.421000	0.28195|0.28195	CTT|TTA		0.328	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317	
SCYL2	55681	broad.mit.edu	37	12	100685270	100685270	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100685270C>A	ENST00000360820.2	+	3	614				SCYL2_ENST00000550067.1_Intron	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)						endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTACACAATTCTTTTATTTAG	0.254																																					.												.	.	0			.	12						.						26.0	30.0	29.0					12																	100685270		2194	4289	6483	99209401	SO:0001627	intron_variant	55681	.			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.178-11C>A	12.37:g.100685270C>A		Somatic		Capture	Illumina HiSeq	Phase_I	99209401	.	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Intron	SNP	ENST00000360820.2	37	CCDS9076.1																																																																																				0.254	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
NR1H4	9971	broad.mit.edu	37	12	100957220	100957220	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:100957220G>T	ENST00000551379.1	+	9	1442	c.1414G>T	c.(1414-1416)Gac>Tac	p.D472Y	NR1H4_ENST00000188403.7_Missense_Mutation_p.D468Y|NR1H4_ENST00000392986.3_Missense_Mutation_p.D462Y|NR1H4_ENST00000548884.1_Missense_Mutation_p.D458Y|NR1H4_ENST00000549996.1_Missense_Mutation_p.D411Y			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	472	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D458Y(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GAGAGTAAACGACCACAAGTT	0.473																																					p.D458Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1372T	12						.						120.0	114.0	116.0					12																	100957220		2203	4300	6503	99481351	SO:0001583	missense	9971	exon11			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1414G>T	12.37:g.100957220G>T	ENSP00000447149:p.Asp472Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	99481351	NM_005123	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639623	0.67244	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7	5.59	5.59	0.84812	Nuclear hormone receptor, ligand-binding (2);	0.040115	0.85682	D	0.000000	D	0.97757	0.9264	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.998;0.994;0.996;0.994	D	0.97988	1.0353	10	0.72032	D	0.01	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	411;472;468;462;458	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	Y	458;462;411;472;468	ENSP00000448506:D458Y;ENSP00000376712:D462Y;ENSP00000448978:D411Y;ENSP00000447149:D472Y;ENSP00000188403:D468Y	ENSP00000188403:D468Y	D	+	1	0	NR1H4	99481351	1.000000	0.71417	0.991000	0.47740	0.423000	0.31445	7.864000	0.87037	2.793000	0.96121	0.561000	0.74099	GAC		0.473	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
MYBPC1	4604	broad.mit.edu	37	12	102023211	102023211	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:102023211G>A	ENST00000550270.1	+	4	103		c.e4-1		MYBPC1_ENST00000547509.1_Splice_Site|MYBPC1_ENST00000441232.1_Splice_Site|MYBPC1_ENST00000536007.1_Splice_Site|MYBPC1_ENST00000547405.1_Splice_Site|MYBPC1_ENST00000392934.3_Splice_Site|MYBPC1_ENST00000361466.2_Splice_Site|MYBPC1_ENST00000541119.1_Splice_Site|MYBPC1_ENST00000360610.2_Splice_Site|MYBPC1_ENST00000551300.1_Splice_Site|MYBPC1_ENST00000361685.2_Splice_Site|MYBPC1_ENST00000553190.1_Splice_Site|MYBPC1_ENST00000452455.2_Splice_Site|MYBPC1_ENST00000549145.1_Splice_Site|MYBPC1_ENST00000545503.2_Splice_Site|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGCTCATCAGACTGGACCCT	0.478																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	12						.						78.0	75.0	76.0					12																	102023211		2203	4300	6503	100547342	SO:0001630	splice_region_variant	4604	.				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.104-1G>A	12.37:g.102023211G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100547342	.	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Splice_Site	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159669	0.57368	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	.	.	.	6.16	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6695	0.68934	0.0689:0.0:0.9311:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC1	100547342	1.000000	0.71417	0.966000	0.40874	0.641000	0.38312	8.378000	0.90144	1.623000	0.50342	0.650000	0.86243	.		0.478	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		Intron
STAB2	55576	broad.mit.edu	37	12	104042605	104042605	+	Intron	SNP	C	C	T	rs371144831		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:104042605C>T	ENST00000388887.2	+	10	1378					NM_017564.9	NP_060034.9			stabilin 2									p.?(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCCTAGGTACGCAGCTATGG	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.	T		0,4406		0,0,2203	105.0	103.0	103.0			-10.8	0.0	12		103	1,8599	1.2+/-3.3	0,1,4299	no	intron	STAB2	NM_017564.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			104042605	1,13005	2203	4300	6503	102566735	SO:0001627	intron_variant	55576	.			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1174+4C>T	12.37:g.104042605C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102566735	.		Intron	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
BTBD11	121551	broad.mit.edu	37	12	108035957	108035957	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:108035957C>A	ENST00000280758.5	+	14	3450				BTBD11_ENST00000494235.2_Intron|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Intron|BTBD11_ENST00000490090.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGTGAGCCCCTGGTGTGGCC	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						105.0	97.0	99.0					12																	108035957		2203	4300	6503	106560087	SO:0001627	intron_variant	121551	.			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2922+9C>A	12.37:g.108035957C>A		Somatic		Capture	Illumina HiSeq	Phase_I	106560087	.	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Intron	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																				0.537	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
ACACB	32	broad.mit.edu	37	12	109697873	109697873	+	Intron	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109697873G>C	ENST00000338432.7	+	48	6615				ACACB_ENST00000543201.1_Missense_Mutation_p.C833S|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.C833S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CATGTAGGGTGCCTGGGGACC	0.478																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						355.0	316.0	328.0					12																	109697873		876	1991	2867	108182256	SO:0001627	intron_variant	32	.			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6497-412G>C	12.37:g.109697873G>C		Somatic		Capture	Illumina HiSeq	Phase_I	108182256	.	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Intron	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	4.643	0.119494	0.08881	.	.	ENSG00000076555	ENST00000543201	D	0.94723	-3.5	3.35	-2.39	0.06602	.	.	.	.	.	D	0.91395	0.7285	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.84524	0.0629	6	0.87932	D	0	.	3.7452	0.08545	0.1036:0.4697:0.2673:0.1594	.	.	.	.	S	833	ENSP00000444075:C833S	ENSP00000444075:C833S	C	+	2	0	ACACB	108182256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.069000	0.11542	-0.526000	0.06383	-2.705000	0.00135	TGC		0.478	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
MYO1H	283446	broad.mit.edu	37	12	109880087	109880087	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:109880087T>C	ENST00000431443.2	+	26	2670				MYO1H_ENST00000310903.5_Intron	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH							myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGTAAGGCGATGTGTGTCCTC	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						92.0	85.0	87.0					12																	109880087		1945	4146	6091	108364470	SO:0001627	intron_variant	283446	.				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2670+10T>C	12.37:g.109880087T>C		Somatic		Capture	Illumina HiSeq	Phase_I	108364470	.	F5H3C6	Intron	SNP	ENST00000431443.2	37																																																																																					0.478	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
NOS1	4842	broad.mit.edu	37	12	117664582	117664582	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:117664582G>T	ENST00000338101.4	-	24	3723				NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCATCTAGTAGAATAACCAAG	0.572																																					.	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Unknown(1)	large_intestine(1)	.	12						.						71.0	72.0	71.0					12																	117664582		2026	4181	6207	116148965	SO:0001627	intron_variant	4842	.				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3719-7C>A	12.37:g.117664582G>T		Somatic		Capture	Illumina HiSeq	Phase_I	116148965	.		Intron	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.572	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
HPD	3242	broad.mit.edu	37	12	122292601	122292601	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122292601G>T	ENST00000289004.4	-	7	450				RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Intron	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCACCAAAGGGAACTCACCGT	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						182.0	155.0	164.0					12																	122292601		2203	4300	6503	120776984	SO:0001627	intron_variant	3242	.			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.414+7C>A	12.37:g.122292601G>T		Somatic		Capture	Illumina HiSeq	Phase_I	120776984	.	A8K461|B3KQ63|Q13234	Intron	SNP	ENST00000289004.4	37	CCDS9224.1																																																																																				0.607	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	
CLIP1	6249	broad.mit.edu	37	12	122812484	122812484	+	Intron	SNP	C	C	T	rs368149044		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:122812484C>T	ENST00000540338.1	-	16	3291				CLIP1_ENST00000302528.7_Intron|CLIP1_ENST00000358808.2_Intron|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000545889.1_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AATTCTCTCGCGTCACGTACT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21040	0.001		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.	C	,	0,4406		0,0,2203	75.0	65.0	68.0		,	-7.3	0.0	12		68	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron	CLIP1	NM_002956.2,NM_198240.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,	122812484	1,13005	2203	4300	6503	121378437	SO:0001627	intron_variant	6249	.				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3249+9G>A	12.37:g.122812484C>T		Somatic		Capture	Illumina HiSeq	Phase_I	121378437	.	A0AVD3|Q17RS4|Q29RG0	Intron	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.552	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
TMEM132D	121256	broad.mit.edu	37	12	130184348	130184348	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130184348G>A	ENST00000422113.2	-	2	1295				RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D						negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTGGGAAACGACTTACCTCA	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						96.0	85.0	89.0					12																	130184348		2203	4300	6503	128750301	SO:0001627	intron_variant	121256	.			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.968+6C>T	12.37:g.130184348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	128750301	.	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Intron	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
RIMBP2	23504	broad.mit.edu	37	12	130935894	130935894	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:130935894G>A	ENST00000261655.4	-	5	471				RIMBP2_ENST00000536002.1_Intron|RIMBP2_ENST00000535703.1_Intron	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2						negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.?(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCTGGCCACGAACATTAAAA	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						40.0	39.0	39.0					12																	130935894		2203	4300	6503	129501847	SO:0001627	intron_variant	23504	.			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.308-9C>T	12.37:g.130935894G>A		Somatic		Capture	Illumina HiSeq	Phase_I	129501847	.	Q96ID2	Intron	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.557	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
ZNF268	10795	broad.mit.edu	37	12	133779243	133779243	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr12:133779243G>T	ENST00000536435.2	+	6	1301	c.971G>T	c.(970-972)aGa>aTa	p.R324I	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R163I|ZNF268_ENST00000228289.5_Missense_Mutation_p.R324I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	324					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R324I(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATCAGAGAATTCATACA	0.393																																					p.R324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971T	12						.						27.0	30.0	29.0					12																	133779243		2192	4291	6483	132289316	SO:0001583	missense	10795	exon6			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.971G>T	12.37:g.133779243G>T	ENSP00000444412:p.Arg324Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132289316	NM_003415	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404982	0.42613	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.24908	1.83;1.83	4.65	0.51	0.16983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22085	0.0532	M	0.66939	2.045	0.28908	N	0.892864	P;P	0.51057	0.917;0.941	B;B	0.39119	0.275;0.291	T	0.18493	-1.0335	8	.	.	.	.	5.3413	0.15984	0.2452:0.0:0.6136:0.1412	.	324;163	Q14587;Q14587-2	ZN268_HUMAN;.	I	324;324;163;163	ENSP00000228289:R324I;ENSP00000445713:R163I	.	R	+	2	0	ZNF268	132289316	0.000000	0.05858	0.005000	0.12908	0.040000	0.13550	0.057000	0.14279	0.198000	0.20407	0.650000	0.86243	AGA		0.393	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	INS	-	-	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0_0insA								None (None upstream) : None (None downstream)																								0.0																																					p.T104fs												.	.	0			c.312_313insA	13						.																																			113564413	SO:0001628	intergenic_variant	2621	exon4																															Unknown.37:g.0_0insA		Somatic		Capture	Illumina HiSeq	Phase_I	113564412	NM_000820		Frame_Shift_Ins	INS		37																																																																																				0	0								
FREM2	341640	broad.mit.edu	37	13	39264943	39264944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39264943_39264944insG	ENST00000280481.7	+	1	3678_3679	c.3462_3463insG	c.(3463-3465)gggfs	p.G1155fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1155					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1156fs*14(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCCATAAAGGGGTGGAACC	0.45																																					p.K1154fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3462_3463insG	13						.																																			38162944	SO:0001589	frameshift_variant	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3466dupG	13.37:g.39264947_39264947dupG	ENSP00000280481:p.Gly1155fs	Somatic		Capture	Illumina HiSeq	Phase_I	38162943	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Frame_Shift_Ins	INS	ENST00000280481.7	37	CCDS31960.1																																																																																				0.450	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
NALCN	259232	broad.mit.edu	37	13	101714452	101714452	+	Silent	SNP	G	G	A	rs138902474		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:101714452G>A	ENST00000251127.6	-	41	4704	c.4623C>T	c.(4621-4623)tcC>tcT	p.S1541S	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1541					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S1541S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGATGTCCACGGACCGGTATG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15419	0.0		0.0	False		,,,				2504	0.0				p.S1541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4623T	13						.	G		1,4405	2.1+/-5.4	0,1,2202	76.0	59.0	65.0		4623	-11.6	0.3	13	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	NALCN	NM_052867.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1541/1739	101714452	1,13005	2203	4300	6503	100512453	SO:0001819	synonymous_variant	259232	exon41			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4623C>T	13.37:g.101714452G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100512453	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101762992	101762992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:101762992G>T	ENST00000251127.6	-	20	2423	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	781					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S781Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTTCAAGAGATTTTCCCCT	0.383																																					p.S781Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2342A	13						.						173.0	157.0	162.0					13																	101762992		2203	4300	6503	100560993	SO:0001583	missense	259232	exon20			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2342C>A	13.37:g.101762992G>T	ENSP00000251127:p.Ser781Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100560993	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500119	0.64298	.	.	ENSG00000102452	ENST00000251127	D	0.97710	-4.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	N	0.22421	0.69	0.80722	D	1	B	0.14805	0.011	B	0.14578	0.011	D	0.91133	0.4939	10	0.59425	D	0.04	.	19.4533	0.94876	0.0:0.0:1.0:0.0	.	781	Q8IZF0	NALCN_HUMAN	Y	781	ENSP00000251127:S781Y	ENSP00000251127:S781Y	S	-	2	0	NALCN	100560993	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.604000	0.88044	0.555000	0.69702	TCT		0.383	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101997705	101997705	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:101997705G>A	ENST00000251127.6	-	7	792	c.711C>T	c.(709-711)taC>taT	p.Y237Y	NALCN_ENST00000376196.3_Silent_p.Y237Y|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	237					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.Y237Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGGGCACTGGTAGCCTTCTT	0.448																																					p.Y237Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	13						.						177.0	156.0	163.0					13																	101997705		2203	4300	6503	100795706	SO:0001819	synonymous_variant	259232	exon7			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.711C>T	13.37:g.101997705G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100795706	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
TPP2	7174	broad.mit.edu	37	13	103289539	103289539	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:103289539A>C	ENST00000376065.4	+	14	1822	c.1786A>C	c.(1786-1788)Aac>Cac	p.N596H	TPP2_ENST00000376052.3_Missense_Mutation_p.N596H	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	596					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.N596H(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGACACATAAACATACGTGT	0.358																																					p.N596H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1786C	13						.						112.0	112.0	112.0					13																	103289539		2203	4300	6503	102087540	SO:0001583	missense	7174	exon14			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1786A>C	13.37:g.103289539A>C	ENSP00000365233:p.Asn596His	Somatic		Capture	Illumina HiSeq	Phase_I	102087540	NM_003291	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483372	0.84854	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.33216	1.42;1.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.55481	1.735	0.80722	D	1	D	0.57899	0.981	P	0.51999	0.687	T	0.17899	-1.0354	10	0.41790	T	0.15	.	16.3782	0.83418	1.0:0.0:0.0:0.0	.	596	P29144	TPP2_HUMAN	H	596	ENSP00000365233:N596H;ENSP00000365220:N596H	ENSP00000365220:N596H	N	+	1	0	TPP2	102087540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.277000	0.76020	0.528000	0.53228	AAC		0.358	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
TPP2	7174	broad.mit.edu	37	13	103309488	103309488	+	Missense_Mutation	SNP	A	A	C	rs199569052		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:103309488A>C	ENST00000376065.4	+	24	3071	c.3035A>C	c.(3034-3036)gAa>gCa	p.E1012A	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.E1025A	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1012					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.E1012A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGATTCAGAAAAAGAGAAA	0.318																																					p.E1012A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3035C	13						.						86.0	88.0	87.0					13																	103309488		2203	4299	6502	102107489	SO:0001583	missense	7174	exon24			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3035A>C	13.37:g.103309488A>C	ENSP00000365233:p.Glu1012Ala	Somatic		Capture	Illumina HiSeq	Phase_I	102107489	NM_003291	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563768	0.65651	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.87	5.87	0.94306	.	0.045734	0.85682	D	0.000000	T	0.52403	0.1732	L	0.47190	1.495	0.80722	D	1	P	0.34522	0.455	B	0.34824	0.19	T	0.49051	-0.8979	9	0.26408	T	0.33	.	16.2496	0.82475	1.0:0.0:0.0:0.0	.	1012	P29144	TPP2_HUMAN	A	1012;1025	.	ENSP00000365220:E1025A	E	+	2	0	TPP2	102107489	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GAA		0.318	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
KDELC1	79070	broad.mit.edu	37	13	103440228	103440228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:103440228G>T	ENST00000376004.4	-	8	1675	c.1339C>A	c.(1339-1341)Ctc>Atc	p.L447I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	447						endoplasmic reticulum lumen (GO:0005788)		p.L447I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCGCCCATGAGATTATTTCTT	0.348																																					p.L447I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1339A	13						.						108.0	101.0	104.0					13																	103440228		2202	4299	6501	102238229	SO:0001583	missense	79070	exon8			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1339C>A	13.37:g.103440228G>T	ENSP00000365172:p.Leu447Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102238229	NM_024089	Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301559	0.95601	.	.	ENSG00000134901	ENST00000376004	T	0.38560	1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81086	-0.1092	10	0.66056	D	0.02	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	447	Q6UW63	KDEL1_HUMAN	I	447	ENSP00000365172:L447I	ENSP00000365172:L447I	L	-	1	0	KDELC1	102238229	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.622000	0.83099	2.720000	0.93068	0.591000	0.81541	CTC		0.348	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1		
DAOA	267012	broad.mit.edu	37	13	106124927	106124927	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:106124927A>C	ENST00000375936.3	+	3	220	c.174A>C	c.(172-174)aaA>aaC	p.K58N	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	58					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.K58N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAACAAGGAAAGAAGGATGGA	0.403																																					p.K58N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A174C	13						.						166.0	163.0	164.0					13																	106124927		1923	4120	6043	104922928	SO:0001583	missense	267012	exon3			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.174A>C	13.37:g.106124927A>C	ENSP00000365103:p.Lys58Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104922928	NM_172370	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746026	0.30955	.	.	ENSG00000182346	ENST00000375936	T	0.29397	1.57	3.39	-3.62	0.04543	.	.	.	.	.	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.35599	-0.9782	9	0.87932	D	0	.	9.201	0.37258	0.425:0.0:0.575:0.0	.	58	P59103	DAOA_HUMAN	N	58	ENSP00000365103:K58N	ENSP00000365103:K58N	K	+	3	2	DAOA	104922928	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.628000	0.05515	-0.720000	0.04935	0.454000	0.30748	AAA		0.403	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
DAOA	267012	broad.mit.edu	37	13	106142252	106142252	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:106142252T>G	ENST00000375936.3	+	4	330	c.284T>G	c.(283-285)cTt>cGt	p.L95R	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Missense_Mutation_p.L24R	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	95					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.L95R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ccttacaggcttgaagaagta	0.488																																					p.L24R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T71G	13						.						72.0	78.0	76.0					13																	106142252		2178	4281	6459	104940253	SO:0001583	missense	267012	exon5			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.284T>G	13.37:g.106142252T>G	ENSP00000365103:p.Leu95Arg	Somatic		Capture	Illumina HiSeq	Phase_I	104940253	NM_001161814	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	T	8.610	0.888998	0.17540	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.46819	0.86	2.34	-1.67	0.08238	.	.	.	.	.	T	0.38558	0.1045	N	0.14661	0.345	0.09310	N	1	D;D	0.69078	0.997;0.991	P;P	0.62184	0.899;0.857	T	0.19877	-1.0292	9	0.40728	T	0.16	.	2.1125	0.03706	0.2445:0.3118:0.0:0.4437	.	67;95	A2T115;P59103	.;DAOA_HUMAN	R	95;24	ENSP00000365103:L95R	ENSP00000329951:L24R	L	+	2	0	DAOA	104940253	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.528000	0.06193	-0.375000	0.07955	0.460000	0.39030	CTT		0.488	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
DAOA	267012	broad.mit.edu	37	13	106142411	106142411	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:106142411C>A	ENST00000375936.3	+	4	489	c.443C>A	c.(442-444)aCt>aAt	p.T148N	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Missense_Mutation_p.T77N	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	148					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.T148N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					aaggaaataacttctaccaaa	0.483																																					p.T77N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230A	13						.						38.0	39.0	38.0					13																	106142411		1953	4133	6086	104940412	SO:0001583	missense	267012	exon5			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.443C>A	13.37:g.106142411C>A	ENSP00000365103:p.Thr148Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104940412	NM_001161814	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	C	6.703	0.498286	0.12762	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.37235	1.21	2.58	0.198	0.15168	.	.	.	.	.	T	0.18467	0.0443	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.22243	-1.0222	9	0.87932	D	0	.	2.9511	0.05862	0.5523:0.2901:0.1576:0.0	.	120;148	A2T115;P59103	.;DAOA_HUMAN	N	148;77	ENSP00000365103:T148N	ENSP00000329951:T77N	T	+	2	0	DAOA	104940412	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.348000	0.20031	0.043000	0.15746	-0.271000	0.10264	ACT		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
FAM155A	728215	broad.mit.edu	37	13	108518583	108518583	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:108518583C>A	ENST00000375915.2	-	1	500	c.362G>T	c.(361-363)aGa>aTa	p.R121I		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	121						integral component of membrane (GO:0016021)		p.R121I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGAGAGGAGTCTGTGTGCCTG	0.761																																					p.R121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362T	13						.						4.0	6.0	6.0					13																	108518583		1860	3825	5685	107316584	SO:0001583	missense	728215	exon1			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.362G>T	13.37:g.108518583C>A	ENSP00000365080:p.Arg121Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107316584	NM_001080396	B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864056	0.32884	.	.	ENSG00000204442	ENST00000375915	T	0.23147	1.92	4.99	4.99	0.66335	.	0.492150	0.20677	N	0.087729	T	0.27134	0.0665	N	0.03608	-0.345	0.42832	D	0.994022	D	0.76494	0.999	D	0.71656	0.974	T	0.40346	-0.9568	10	0.66056	D	0.02	.	13.665	0.62389	0.0:1.0:0.0:0.0	.	121	B1AL88	F155A_HUMAN	I	121	ENSP00000365080:R121I	ENSP00000365080:R121I	R	-	2	0	FAM155A	107316584	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.014000	0.49590	2.601000	0.87937	0.655000	0.94253	AGA		0.761	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396	
LIG4	3981	broad.mit.edu	37	13	108861206	108861206	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:108861206G>A	ENST00000356922.4	-	2	2683	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F	LIG4_ENST00000442234.1_Missense_Mutation_p.S804F|LIG4_ENST00000405925.1_Missense_Mutation_p.S804F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	804					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S804F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCAATCCCAGGAATACCGATA	0.413								Non-homologous end-joining																													p.S804F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2411T	13						.						73.0	71.0	72.0					13																	108861206		2203	4300	6503	107659207	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2411C>T	13.37:g.108861206G>A	ENSP00000349393:p.Ser804Phe	Somatic		Capture	Illumina HiSeq	Phase_I	107659207	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570615	0.28003	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61627	0.09;0.09;0.09	5.59	4.73	0.59995	.	0.185481	0.47455	D	0.000230	T	0.47820	0.1466	L	0.39898	1.24	0.38213	D	0.940543	B	0.02656	0.0	B	0.01281	0.0	T	0.44757	-0.9307	10	0.15952	T	0.53	.	15.3502	0.74376	0.0:0.2632:0.7368:0.0	.	804	P49917	DNLI4_HUMAN	F	804	ENSP00000385955:S804F;ENSP00000402030:S804F;ENSP00000349393:S804F	ENSP00000349393:S804F	S	-	2	0	LIG4	107659207	0.996000	0.38824	1.000000	0.80357	0.817000	0.46193	2.004000	0.40854	1.330000	0.45394	0.440000	0.28878	TCC		0.413	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
LIG4	3981	broad.mit.edu	37	13	108863037	108863037	+	Missense_Mutation	SNP	A	A	C	rs559399480		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:108863037A>C	ENST00000356922.4	-	2	852	c.580T>G	c.(580-582)Tta>Gta	p.L194V	LIG4_ENST00000442234.1_Missense_Mutation_p.L194V|LIG4_ENST00000405925.1_Missense_Mutation_p.L194V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	194					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L194V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCAAGCTTTAAATCCTTTATG	0.358								Non-homologous end-joining																													p.L194V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T580G	13						.						91.0	89.0	90.0					13																	108863037		2203	4299	6502	107661038	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.580T>G	13.37:g.108863037A>C	ENSP00000349393:p.Leu194Val	Somatic		Capture	Illumina HiSeq	Phase_I	107661038	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806488	0.31961	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.39229	1.09;1.09;1.09	5.68	1.95	0.26073	DNA ligase, ATP-dependent, N-terminal (3);	0.056764	0.64402	D	0.000004	T	0.45478	0.1344	L	0.54323	1.7	0.40693	D	0.982413	P	0.50272	0.933	P	0.55508	0.777	T	0.34551	-0.9824	10	0.48119	T	0.1	.	4.3574	0.11185	0.5271:0.0:0.3278:0.1451	.	194	P49917	DNLI4_HUMAN	V	194	ENSP00000385955:L194V;ENSP00000402030:L194V;ENSP00000349393:L194V	ENSP00000349393:L194V	L	-	1	2	LIG4	107661038	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.483000	0.35497	0.114000	0.18032	0.523000	0.50628	TTA		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
LIG4	3981	broad.mit.edu	37	13	108863124	108863124	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:108863124C>A	ENST00000356922.4	-	2	765	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	LIG4_ENST00000442234.1_Missense_Mutation_p.D165Y|LIG4_ENST00000405925.1_Missense_Mutation_p.D165Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	165					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D165Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTATTAGGTCTTTTCTTTTA	0.358								Non-homologous end-joining																													p.D165Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493T	13						.						92.0	95.0	94.0					13																	108863124		2203	4300	6503	107661125	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.493G>T	13.37:g.108863124C>A	ENSP00000349393:p.Asp165Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	107661125	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358080	0.61403	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.20332	2.08;2.08;2.08	5.69	4.78	0.61160	DNA ligase, ATP-dependent, N-terminal (3);	0.161269	0.56097	D	0.000027	T	0.42585	0.1209	M	0.80982	2.52	0.58432	D	0.999998	P	0.46578	0.88	P	0.56163	0.793	T	0.40961	-0.9535	10	0.66056	D	0.02	.	12.1796	0.54204	0.0:0.9089:0.0:0.0911	.	165	P49917	DNLI4_HUMAN	Y	165	ENSP00000385955:D165Y;ENSP00000402030:D165Y;ENSP00000349393:D165Y	ENSP00000349393:D165Y	D	-	1	0	LIG4	107661125	1.000000	0.71417	0.979000	0.43373	0.929000	0.56500	5.730000	0.68546	1.265000	0.44215	0.643000	0.83706	GAC		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
MYO16	23026	broad.mit.edu	37	13	109318376	109318376	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:109318376G>T	ENST00000357550.2	+	1	146	c.105G>T	c.(103-105)gaG>gaT	p.E35D	MYO16_ENST00000356711.2_Missense_Mutation_p.E35D|MYO16_ENST00000251041.5_Missense_Mutation_p.E35D	NM_001198950.1	NP_001185879.1			myosin XVI									p.E35D(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATGAGCGCGAGAAGGCTTTTC	0.517																																					p.E57D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	13						.						86.0	76.0	79.0					13																	109318376		2203	4300	6503	108116377	SO:0001583	missense	23026	exon2				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.105G>T	13.37:g.109318376G>T	ENSP00000350160:p.Glu35Asp	Somatic		Capture	Illumina HiSeq	Phase_I	108116377	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479488	0.44044	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.51071	0.72;0.72;0.72	5.37	3.63	0.41609	.	0.000000	0.36444	U	0.002589	T	0.48677	0.1513	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.43782	-0.9370	9	.	.	.	.	5.6733	0.17735	0.3504:0.0:0.6496:0.0	.	35;35	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	D	35	ENSP00000349145:E35D;ENSP00000350160:E35D;ENSP00000251041:E35D	.	E	+	3	2	MYO16	108116377	1.000000	0.71417	0.717000	0.30585	0.309000	0.27889	1.462000	0.35266	1.266000	0.44231	0.650000	0.86243	GAG		0.517	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109562396	109562396	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:109562396A>T	ENST00000357550.2	+	15	1798	c.1757A>T	c.(1756-1758)cAa>cTa	p.Q586L	MYO16_ENST00000356711.2_Missense_Mutation_p.Q586L|MYO16_ENST00000457511.2_Missense_Mutation_p.Q98L|MYO16_ENST00000251041.5_Missense_Mutation_p.Q586L	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q586L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTTGTTTCACAACCTCTTGGC	0.348																																					p.Q608L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1823T	13						.						159.0	166.0	164.0					13																	109562396		2203	4300	6503	108360397	SO:0001583	missense	23026	exon16				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1757A>T	13.37:g.109562396A>T	ENSP00000350160:p.Gln586Leu	Somatic		Capture	Illumina HiSeq	Phase_I	108360397	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728513	0.48833	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.000000	0.39146	U	0.001455	D	0.89497	0.6732	M	0.86573	2.825	0.50467	D	0.999871	B;B;B	0.15141	0.012;0.004;0.004	B;B;B	0.11329	0.006;0.004;0.006	D	0.86477	0.1789	9	.	.	.	.	12.6214	0.56605	1.0:0.0:0.0:0.0	.	98;586;586	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	L	586;586;586;586;374;98	ENSP00000349145:Q586L;ENSP00000350160:Q586L;ENSP00000251041:Q586L;ENSP00000401633:Q98L	.	Q	+	2	0	MYO16	108360397	1.000000	0.71417	0.762000	0.31397	0.968000	0.65278	5.157000	0.64911	1.918000	0.55548	0.482000	0.46254	CAA		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
COL4A1	1282	broad.mit.edu	37	13	110827689	110827689	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:110827689T>A	ENST00000375820.4	-	37	3195	c.3074A>T	c.(3073-3075)aAa>aTa	p.K1025I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1025	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.K1025I(1)|p.K668I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGCACACCTTTCTCTCCAGG	0.507																																					p.K1025I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3074T	13						.						96.0	79.0	85.0					13																	110827689		2203	4300	6503	109625690	SO:0001583	missense	1282	exon37			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3074A>T	13.37:g.110827689T>A	ENSP00000364979:p.Lys1025Ile	Somatic		Capture	Illumina HiSeq	Phase_I	109625690	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.304943	0.81247	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93859	-3.3	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97035	0.9753	10	0.56958	D	0.05	.	15.7145	0.77658	0.0:0.0:0.0:1.0	.	1025	P02462	CO4A1_HUMAN	I	668;1025;674	ENSP00000364979:K1025I	ENSP00000364973:K668I	K	-	2	0	COL4A1	109625690	1.000000	0.71417	0.895000	0.35142	0.848000	0.48234	3.438000	0.52871	2.168000	0.68352	0.528000	0.53228	AAA		0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
ING1	3621	broad.mit.edu	37	13	111371944	111371944	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:111371944G>A	ENST00000375774.3	+	2	1396	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ING1_ENST00000338450.7_Missense_Mutation_p.D125N|ING1_ENST00000333219.7_Missense_Mutation_p.D169N|ING1_ENST00000375775.3_Missense_Mutation_p.D100N	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	312					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D169N(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCACGACCACGACGACGGCGC	0.657																																					p.D312N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	13						.						64.0	50.0	55.0					13																	111371944		2203	4300	6503	110169945	SO:0001583	missense	3621	exon2				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.934G>A	13.37:g.111371944G>A	ENSP00000364929:p.Asp312Asn	Somatic		Capture	Illumina HiSeq	Phase_I	110169945	NM_005537	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563104	0.45694	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.26	5.26	0.73747	.	0.151378	0.64402	D	0.000018	T	0.62282	0.2415	M	0.62723	1.935	0.58432	D	0.999992	P;D;D	0.89917	0.625;1.0;1.0	B;D;D	0.79108	0.155;0.99;0.992	T	0.57277	-0.7839	10	0.28530	T	0.3	-30.2763	18.8411	0.92184	0.0:0.0:1.0:0.0	.	312;169;125	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	N	125;169;100;312	ENSP00000345202:D125N;ENSP00000328436:D169N;ENSP00000364930:D100N;ENSP00000364929:D312N	ENSP00000328436:D169N	D	+	1	0	ING1	110169945	1.000000	0.71417	0.606000	0.28943	0.108000	0.19459	9.156000	0.94705	2.448000	0.82819	0.491000	0.48974	GAC		0.657	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
SPACA7	122258	broad.mit.edu	37	13	113047352	113047352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:113047352C>T	ENST00000283550.3	+	2	179	c.112C>T	c.(112-114)Cca>Tca	p.P38S	SPACA7_ENST00000375699.3_Intron	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	38						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.P38S(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TACTGAAATACCATTCAGTTC	0.388																																					p.P38S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C112T	13						.						105.0	104.0	104.0					13																	113047352		2203	4300	6503	112095353	SO:0001583	missense	122258	exon2			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.112C>T	13.37:g.113047352C>T	ENSP00000283550:p.Pro38Ser	Somatic		Capture	Illumina HiSeq	Phase_I	112095353	NM_145248	Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296780	0.01364	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541	T;T;T	0.41758	0.99;0.99;0.99	2.83	0.027	0.14152	.	.	.	.	.	T	0.19287	0.0463	N	0.12182	0.205	0.09310	N	1	B	0.31383	0.321	B	0.37304	0.246	T	0.28267	-1.0049	9	0.02654	T	1	.	3.1012	0.06327	0.0:0.488:0.2318:0.2801	.	38	Q96KW9	SPAC7_HUMAN	S	38;26;24	ENSP00000283550:P38S;ENSP00000416096:P26S;ENSP00000406733:P24S	ENSP00000283550:P38S	P	+	1	0	SPACA7	112095353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.072000	0.00618	-0.038000	0.13624	-0.324000	0.08512	CCA		0.388	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248	
TUBGCP3	10426	broad.mit.edu	37	13	113143918	113143918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:113143918G>A	ENST00000261965.3	-	21	2728	c.2542C>T	c.(2542-2544)Cga>Tga	p.R848*		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	848					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R848*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCAATATTCGCAACTGTGAG	0.458																																					p.R848X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2542T	13						.						269.0	237.0	248.0					13																	113143918		2203	4300	6503	112191919	SO:0001587	stop_gained	10426	exon21			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2542C>T	13.37:g.113143918G>A	ENSP00000261965:p.Arg848*	Somatic		Capture	Illumina HiSeq	Phase_I	112191919	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	39	7.790146	0.98492	.	.	ENSG00000126216	ENST00000261965	.	.	.	5.25	5.25	0.73442	.	0.125966	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8173	13.8373	0.63417	0.0:0.0:0.8472:0.1528	.	.	.	.	X	848	.	ENSP00000261965:R848X	R	-	1	2	TUBGCP3	112191919	1.000000	0.71417	0.898000	0.35279	0.033000	0.12548	3.640000	0.54350	2.469000	0.83416	0.549000	0.68633	CGA		0.458	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
CUL4A	8451	broad.mit.edu	37	13	113897294	113897294	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:113897294G>A	ENST00000375440.4	+	11	1132	c.1048G>A	c.(1048-1050)Gcg>Acg	p.A350T	CUL4A_ENST00000451881.1_Missense_Mutation_p.A250T|CUL4A_ENST00000326335.4_Missense_Mutation_p.A250T|CUL4A_ENST00000375441.3_Missense_Mutation_p.A250T	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	350					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.A250T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TTTTGGAACAGCGATCGTAAT	0.408																																					p.A350T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	13						.						145.0	123.0	131.0					13																	113897294		2203	4300	6503	112945295	SO:0001583	missense	8451	exon11			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1048G>A	13.37:g.113897294G>A	ENSP00000364589:p.Ala350Thr	Somatic		Capture	Illumina HiSeq	Phase_I	112945295	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.578218	0.00879	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.97	2.38	0.29361	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.280095	0.42053	N	0.000772	T	0.50973	0.1647	N	0.04373	-0.215	0.25217	N	0.989934	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.18710	T	0.47	-15.74	7.4731	0.27361	0.7243:0.0:0.2757:0.0	.	350;350	Q13619;A8MSH7	CUL4A_HUMAN;.	T	250;250;250;350	ENSP00000364590:A250T;ENSP00000389118:A250T;ENSP00000322132:A250T;ENSP00000364589:A350T	ENSP00000322132:A250T	A	+	1	0	CUL4A	112945295	0.996000	0.38824	0.928000	0.36995	0.023000	0.10783	3.655000	0.54460	0.262000	0.21774	-0.345000	0.07892	GCG		0.408	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
GRTP1	79774	broad.mit.edu	37	13	113999223	113999223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:113999223C>A	ENST00000375431.4	-	5	591	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	GRTP1_ENST00000326039.3_Nonsense_Mutation_p.E95*|GRTP1_ENST00000375430.4_Nonsense_Mutation_p.E173*	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	173	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.E173*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAAAAAGATTCTTCTTCATTA	0.368																																					p.E173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G517T	13						.						82.0	90.0	87.0					13																	113999223		2203	4300	6503	113047224	SO:0001587	stop_gained	79774	exon5			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.517G>T	13.37:g.113999223C>A	ENSP00000364580:p.Glu173*	Somatic		Capture	Illumina HiSeq	Phase_I	113047224	NM_024719	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Nonsense_Mutation	SNP	ENST00000375431.4	37	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151707	0.57151	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	.	.	.	5.13	2.18	0.27775	.	0.194493	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.3754	0.26825	0.0:0.4901:0.3387:0.1712	.	.	.	.	X	173;95;173	.	ENSP00000321850:E95X	E	-	1	0	GRTP1	113047224	0.996000	0.38824	0.066000	0.19879	0.104000	0.19210	1.694000	0.37752	0.537000	0.28751	0.591000	0.81541	GAA		0.368	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719	
TFDP1	7027	broad.mit.edu	37	13	114286038	114286038	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:114286038A>C	ENST00000375370.5	+	5	499	c.287A>C	c.(286-288)gAc>gCc	p.D96A	TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Intron	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	96					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D96A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAGCCTTCCGACTCCTCACCT	0.597										TSP Lung(29;0.18)																											p.D96A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287C	13						.						143.0	108.0	119.0					13																	114286038		2203	4300	6503	113334039	SO:0001583	missense	7027	exon5			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.287A>C	13.37:g.114286038A>C	ENSP00000364519:p.Asp96Ala	Somatic		Capture	Illumina HiSeq	Phase_I	113334039	NM_007111	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215227	0.58452	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.32988	1.9;1.47;1.43	4.34	4.34	0.51931	.	0.144824	0.64402	D	0.000011	T	0.27629	0.0679	L	0.54323	1.7	0.80722	D	1	P;B;B	0.46395	0.877;0.124;0.124	B;B;B	0.38106	0.265;0.033;0.05	T	0.07046	-1.0793	10	0.27785	T	0.31	.	13.8436	0.63455	1.0:0.0:0.0:0.0	.	96;96;96	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	A	96	ENSP00000364519:D96A;ENSP00000386145:D96A;ENSP00000401389:D96A	ENSP00000364519:D96A	D	+	2	0	TFDP1	113334039	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.388000	0.73195	1.734000	0.51633	0.260000	0.18958	GAC		0.597	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0.0																																					p.R123I												.	.	0			c.G368T	13						.																																			113611606	SO:0001628	intergenic_variant	348013	exon5																															Unknown.37:g.0C>A		Somatic		Capture	Illumina HiSeq	Phase_I	113611606	NM_182614		Missense_Mutation	SNP		37																																																																																				0	0								
TUBA3C	7278	broad.mit.edu	37	13	19753677	19753677	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:19753677C>T	ENST00000400113.3	-	2	134	c.30G>A	c.(28-30)ggG>ggA	p.G10G	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	10					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G10G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCTGCCTGCCCCACGTGGA	0.463																																					p.G10G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G30A	13						.						129.0	111.0	117.0					13																	19753677		2203	4300	6503	18651677	SO:0001819	synonymous_variant	7278	exon2			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.30G>A	13.37:g.19753677C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18651677	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.463	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
TPTE2	93492	broad.mit.edu	37	13	20067596	20067596	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:20067596C>T	ENST00000400230.2	-	2	101	c.57G>A	c.(55-57)gcG>gcA	p.A19A	TPTE2_ENST00000255310.6_Silent_p.A19A|TPTE2_ENST00000400103.2_Silent_p.A19A|TPTE2_ENST00000382975.4_Silent_p.A19A|TPTE2_ENST00000390680.2_Silent_p.A19A|TPTE2_ENST00000457266.2_Silent_p.A19A|TPTE2_ENST00000382977.4_Silent_p.A19A|TPTE2_ENST00000382978.1_Silent_p.A19A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	19					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A19A(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCTTTCTTTCGCAGGTGCCT	0.378																																					p.A19A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G57A	13						.						139.0	124.0	129.0					13																	20067596		2203	4300	6503	18965596	SO:0001819	synonymous_variant	93492	exon4			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.57G>A	13.37:g.20067596C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18965596	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																				0.378	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
PSPC1	55269	broad.mit.edu	37	13	20304418	20304418	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:20304418C>T	ENST00000338910.4	-	6	1278	c.1119G>A	c.(1117-1119)agG>agA	p.R373R		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	373					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R373R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CTTGCTGTCGCCTCAGTTCCT	0.363																																					p.R373R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1119A	13						.						247.0	248.0	247.0					13																	20304418		1885	4124	6009	19202418	SO:0001819	synonymous_variant	55269	exon6			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1119G>A	13.37:g.20304418C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19202418	NM_001042414	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP	ENST00000338910.4	37	CCDS41870.1																																																																																				0.363	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		
ZMYM5	9205	broad.mit.edu	37	13	20398911	20398911	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:20398911T>C	ENST00000337963.4	-	8	1980	c.1716A>G	c.(1714-1716)gaA>gaG	p.E572E		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	572						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E572E(1)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tagtggttttttcaccatttg	0.328																																					p.E572E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1716G	13						.						23.0	20.0	21.0					13																	20398911		1567	3581	5148	19296911	SO:0001819	synonymous_variant	9205	exon8			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1716A>G	13.37:g.20398911T>C		Somatic		Capture	Illumina HiSeq	Phase_I	19296911	NM_001142684	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	37																																																																																					0.328	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
N6AMT2	221143	broad.mit.edu	37	13	21303263	21303263	+	Missense_Mutation	SNP	G	G	A	rs368022750		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:21303263G>A	ENST00000382758.1	-	5	648	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.R201C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	201						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.R201C(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACATAACAGCGAAACTCATTT	0.463																																					p.R201C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601T	13						.	G	CYS/ARG	0,4406		0,0,2203	225.0	210.0	215.0		601	4.1	0.8	13		215	2,8598	2.2+/-6.3	0,2,4298	no	missense	N6AMT2	NM_174928.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	201/215	21303263	2,13004	2203	4300	6503	20201263	SO:0001583	missense	221143	exon5			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.601C>T	13.37:g.21303263G>A	ENSP00000372206:p.Arg201Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20201263	NM_174928	B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567316	0.65651	0.0	2.33E-4	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.48522	0.81;0.81	5.86	4.05	0.47172	.	0.055265	0.85682	N	0.000000	T	0.48696	0.1514	M	0.74258	2.255	0.80722	D	1	P	0.34412	0.453	B	0.36378	0.223	T	0.43523	-0.9386	10	0.38643	T	0.18	.	11.3914	0.49817	0.1515:0.0:0.8485:0.0	.	201	Q8WVE0	N6MT2_HUMAN	C	201	ENSP00000372206:R201C;ENSP00000372202:R201C	ENSP00000372202:R201C	R	-	1	0	N6AMT2	20201263	1.000000	0.71417	0.793000	0.32043	0.857000	0.48899	6.406000	0.73276	0.753000	0.32945	-0.345000	0.07892	CGC		0.463	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928	
XPO4	64328	broad.mit.edu	37	13	21370919	21370919	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:21370919A>G	ENST00000255305.6	-	17	2671	c.2600T>C	c.(2599-2601)aTa>aCa	p.I867T	XPO4_ENST00000400602.2_Missense_Mutation_p.I867T			Q9C0E2	XPO4_HUMAN	exportin 4	867					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I840T(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAGATAGCATATCTGTTTATG	0.323																																					p.I867T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2600C	13						.						56.0	53.0	54.0					13																	21370919		1805	4078	5883	20268919	SO:0001583	missense	64328	exon17			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2600T>C	13.37:g.21370919A>G	ENSP00000255305:p.Ile867Thr	Somatic		Capture	Illumina HiSeq	Phase_I	20268919	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107312	0.77096	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.25414	1.8;1.8	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.48642	1.525	0.80722	D	1	D	0.55605	0.972	P	0.50231	0.635	T	0.02437	-1.1159	10	0.22109	T	0.4	-12.015	15.6884	0.77430	1.0:0.0:0.0:0.0	.	867	Q9C0E2	XPO4_HUMAN	T	867;737;867	ENSP00000383444:I867T;ENSP00000255305:I867T	ENSP00000255305:I867T	I	-	2	0	XPO4	20268919	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.877000	0.92386	2.175000	0.68902	0.260000	0.18958	ATA		0.323	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	471					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428																																					p.R471X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1411T	13						.						132.0	126.0	128.0					13																	21383304		1900	4121	6021	20281304	SO:0001587	stop_gained	64328	exon11			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1411C>T	13.37:g.21383304G>A	ENSP00000255305:p.Arg471*	Somatic		Capture	Illumina HiSeq	Phase_I	20281304	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	XPO4	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA		0.428	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
LATS2	26524	broad.mit.edu	37	13	21549231	21549231	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:21549231G>A	ENST00000382592.4	-	8	3450	c.3045C>T	c.(3043-3045)agC>agT	p.S1015S	LATS2_ENST00000542899.1_Silent_p.S1015S	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.S1015S(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGCTACCTTCGCTGGCATCGT	0.547																																					p.S1015S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3045T	13						.						245.0	216.0	226.0					13																	21549231		2203	4300	6503	20447231	SO:0001819	synonymous_variant	26524	exon8			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3045C>T	13.37:g.21549231G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20447231	NM_014572		Silent	SNP	ENST00000382592.4	37	CCDS9294.1																																																																																				0.547	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
MICU2	221154	broad.mit.edu	37	13	22113511	22113511	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:22113511G>A	ENST00000382374.4	-	4	461	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	132					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.I132I(1)									GTGTATCCTCGATGTCCTTTG	0.383																																					p.I132I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	13						.						52.0	52.0	52.0					13																	22113511		2203	4300	6503	21011511	SO:0001819	synonymous_variant	221154	exon4			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.396C>T	13.37:g.22113511G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21011511	NM_152726	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																				0.383	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
SACS	26278	broad.mit.edu	37	13	23904641	23904641	+	Missense_Mutation	SNP	G	G	T	rs148914536	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23904641G>T	ENST00000382292.3	-	9	13647	c.13374C>A	c.(13372-13374)ttC>ttA	p.F4458L	SACS_ENST00000382298.3_Missense_Mutation_p.F4458L|SACS_ENST00000402364.1_Missense_Mutation_p.F3708L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4458	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.F4311L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGCAGCTGAGAAGTTTGCTC	0.453																																					p.F4458L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13374A	13						.						91.0	97.0	95.0					13																	23904641		2203	4299	6502	22802641	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13374C>A	13.37:g.23904641G>T	ENSP00000371729:p.Phe4458Leu	Somatic		Capture	Illumina HiSeq	Phase_I	22802641	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	8.026	0.760711	0.15914	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	T;T;T	0.79247	-1.25;-1.25;-1.25	5.85	-2.71	0.05986	HEPN (3);	0.047703	0.85682	D	0.000000	T	0.45377	0.1339	N	0.03050	-0.425	0.39710	D	0.971311	B	0.24576	0.106	B	0.19946	0.027	T	0.48843	-0.8999	10	0.02654	T	1	.	12.7883	0.57518	0.6667:0.0:0.3333:0.0	.	4458	Q9NZJ4	SACS_HUMAN	L	4458;3708;4458	ENSP00000371729:F4458L;ENSP00000385844:F3708L;ENSP00000371735:F4458L	ENSP00000371729:F4458L	F	-	3	2	SACS	22802641	0.058000	0.20735	0.944000	0.38274	0.636000	0.38137	-0.336000	0.07863	-0.525000	0.06391	0.563000	0.77884	TTC		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23906239	23906239	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23906239C>T	ENST00000382292.3	-	9	12049	c.11776G>A	c.(11776-11778)Gat>Aat	p.D3926N	SACS_ENST00000382298.3_Missense_Mutation_p.D3926N|SACS_ENST00000402364.1_Missense_Mutation_p.D3176N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3926					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.D3779N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTGGCGCATCGTCAAACACT	0.448																																					p.D3926N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11776A	13						.						137.0	119.0	125.0					13																	23906239		2203	4300	6503	22804239	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11776G>A	13.37:g.23906239C>T	ENSP00000371729:p.Asp3926Asn	Somatic		Capture	Illumina HiSeq	Phase_I	22804239	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146077	0.77888	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94650	-3.31;-3.48;-3.31	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	N	0.20986	0.625	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	D	0.96048	0.9029	10	0.87932	D	0	.	20.1013	0.97878	0.0:1.0:0.0:0.0	.	3926	Q9NZJ4	SACS_HUMAN	N	3926;3176;3926	ENSP00000371729:D3926N;ENSP00000385844:D3176N;ENSP00000371735:D3926N	ENSP00000371729:D3926N	D	-	1	0	SACS	22804239	1.000000	0.71417	0.995000	0.50966	0.267000	0.26476	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GAT		0.448	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23907689	23907689	+	Missense_Mutation	SNP	C	C	A	rs151213439		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23907689C>A	ENST00000382292.3	-	9	10599	c.10326G>T	c.(10324-10326)gaG>gaT	p.E3442D	SACS_ENST00000382298.3_Missense_Mutation_p.E3442D|SACS_ENST00000402364.1_Missense_Mutation_p.E2692D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3442					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E3295D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTCCATTTCTCCACTTCAG	0.388																																					p.E3442D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10326T	13						.						117.0	117.0	117.0					13																	23907689		2203	4300	6503	22805689	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10326G>T	13.37:g.23907689C>A	ENSP00000371729:p.Glu3442Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22805689	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	2.745	-0.261375	0.05791	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-1.99;-2.14;-1.99	5.68	-4.65	0.03339	.	0.240383	0.42964	N	0.000633	T	0.60248	0.2254	N	0.08118	0	0.20403	N	0.999903	B	0.02656	0.0	B	0.01281	0.0	T	0.57740	-0.7759	10	0.08179	T	0.78	.	1.6724	0.02814	0.1935:0.2484:0.3514:0.2067	.	3442	Q9NZJ4	SACS_HUMAN	D	3442;2692;3442	ENSP00000371729:E3442D;ENSP00000385844:E2692D;ENSP00000371735:E3442D	ENSP00000371729:E3442D	E	-	3	2	SACS	22805689	0.121000	0.22262	0.989000	0.46669	0.992000	0.81027	-0.688000	0.05150	-0.483000	0.06772	-0.415000	0.06103	GAG		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23910661	23910661	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23910661A>C	ENST00000382292.3	-	9	7627	c.7354T>G	c.(7354-7356)Tta>Gta	p.L2452V	SACS_ENST00000382298.3_Missense_Mutation_p.L2452V|SACS_ENST00000402364.1_Missense_Mutation_p.L1702V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2452					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L2305V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGGCAATAATATCTTGCCA	0.338																																					p.L2452V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7354G	13						.						84.0	88.0	87.0					13																	23910661		2203	4298	6501	22808661	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7354T>G	13.37:g.23910661A>C	ENSP00000371729:p.Leu2452Val	Somatic		Capture	Illumina HiSeq	Phase_I	22808661	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905234	0.52333	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93604	-3.25;-3.25;-3.25	5.6	4.41	0.53225	.	0.000000	0.64402	D	0.000002	D	0.94991	0.8379	M	0.67953	2.075	0.38170	D	0.939304	D	0.76494	0.999	D	0.70227	0.968	D	0.93983	0.7260	10	0.38643	T	0.18	.	8.6406	0.33974	0.8528:0.0:0.1472:0.0	.	2452	Q9NZJ4	SACS_HUMAN	V	2452;1702;2452	ENSP00000371729:L2452V;ENSP00000385844:L1702V;ENSP00000371735:L2452V	ENSP00000371729:L2452V	L	-	1	2	SACS	22808661	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.076000	0.41548	0.964000	0.38108	0.459000	0.35465	TTA		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23912323	23912323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23912323C>A	ENST00000382292.3	-	9	5965	c.5692G>T	c.(5692-5694)Gaa>Taa	p.E1898*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E1898*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1148*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1898					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E1751*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCCAGATTTCTTTCCTATTT	0.393																																					p.E1898X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5692T	13						.						127.0	114.0	118.0					13																	23912323		2203	4300	6503	22810323	SO:0001587	stop_gained	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5692G>T	13.37:g.23912323C>A	ENSP00000371729:p.Glu1898*	Somatic		Capture	Illumina HiSeq	Phase_I	22810323	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	56	25.991449	0.99967	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	.	.	.	X	1898;1148;1898	.	ENSP00000371729:E1898X	E	-	1	0	SACS	22810323	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.487000	0.81328	2.712000	0.92718	0.591000	0.81541	GAA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23929431	23929431	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:23929431G>T	ENST00000382292.3	-	7	1593	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	SACS_ENST00000382298.3_Missense_Mutation_p.F440L|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	440					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.F293L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTTTCCTGAGAAATCAGACG	0.438																																					p.F440L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1320A	13						.						96.0	86.0	89.0					13																	23929431		2203	4300	6503	22827431	SO:0001583	missense	26278	exon8			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1320C>A	13.37:g.23929431G>T	ENSP00000371729:p.Phe440Leu	Somatic		Capture	Illumina HiSeq	Phase_I	22827431	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.121517|3.121517	0.56613|0.56613	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156|ENST00000455470	T;T;T|.	0.17370|.	2.28;2.28;2.28|.	5.72|5.72	4.87|4.87	0.63330|0.63330	.|.	0.051373|.	0.85682|.	N|.	0.000000|.	T|T	0.60392|0.60392	0.2265|0.2265	L|L	0.56340|0.56340	1.77|1.77	0.40701|0.40701	D|D	0.98248|0.98248	D;B;B|.	0.63046|.	0.992;0.34;0.145|.	D;B;B|.	0.63192|.	0.912;0.171;0.24|.	T|T	0.60414|0.60414	-0.7268|-0.7268	10|5	0.11485|.	T|.	0.65|.	.|.	9.4529|9.4529	0.38736|0.38736	0.26:0.0:0.74:0.0|0.26:0.0:0.74:0.0	.|.	339;227;440|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	L|I	440;440;64|340	ENSP00000371729:F440L;ENSP00000371735:F440L;ENSP00000390925:F64L|.	ENSP00000371729:F440L|.	F|L	-|-	3|1	2|0	SACS|SACS	22827431|22827431	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.553000|0.553000	0.35397|0.35397	2.288000|2.288000	0.43514|0.43514	1.554000|1.554000	0.49487|0.49487	0.650000|0.650000	0.86243|0.86243	TTC|CTC		0.438	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
PARP4	143	broad.mit.edu	37	13	25009293	25009293	+	Missense_Mutation	SNP	G	G	A	rs140886733		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25009293G>A	ENST00000381989.3	-	31	4091	c.3986C>T	c.(3985-3987)cCg>cTg	p.P1329L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1329					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P1329L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCGGGCAGTCGGGGGAAGATA	0.488																																					p.P1329L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3986T	13						.	G	LEU/PRO	0,4406		0,0,2203	83.0	90.0	88.0		3986	-4.3	0.0	13	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	PARP4	NM_006437.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1329/1725	25009293	2,13004	2203	4300	6503	23907293	SO:0001583	missense	143	exon31			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3986C>T	13.37:g.25009293G>A	ENSP00000371419:p.Pro1329Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23907293	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.396504	0.00198	0.0	2.33E-4	ENSG00000102699	ENST00000381989	T	0.01838	4.61	2.13	-4.26	0.03755	.	27.309900	0.00757	U	0.001115	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44982	-0.9292	10	0.32370	T	0.25	.	3.3786	0.07246	0.254:0.0:0.2785:0.4675	.	1329	Q9UKK3	PARP4_HUMAN	L	1329	ENSP00000371419:P1329L	ENSP00000371419:P1329L	P	-	2	0	PARP4	23907293	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.632000	0.24583	-2.805000	0.00350	-2.225000	0.00294	CCG		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
PARP4	143	broad.mit.edu	37	13	25016101	25016101	+	Missense_Mutation	SNP	C	C	A	rs145391493	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25016101C>A	ENST00000381989.3	-	30	3654	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1183					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E1183D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCGACTCATTCTCATCCTATA	0.398																																					p.E1183D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3549T	13						.						37.0	40.0	39.0					13																	25016101		2201	4298	6499	23914101	SO:0001583	missense	143	exon30			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3549G>T	13.37:g.25016101C>A	ENSP00000371419:p.Glu1183Asp	Somatic		Capture	Illumina HiSeq	Phase_I	23914101	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.518693	0.00967	.	.	ENSG00000102699	ENST00000381989	T	0.64085	-0.08	3.93	-3.75	0.04372	.	2.925640	0.01785	N	0.031974	T	0.31263	0.0791	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12578	-1.0542	10	0.13853	T	0.58	0.0027	2.1394	0.03771	0.2333:0.4334:0.0919:0.2414	.	1183	Q9UKK3	PARP4_HUMAN	D	1183	ENSP00000371419:E1183D	ENSP00000371419:E1183D	E	-	3	2	PARP4	23914101	0.003000	0.15002	0.043000	0.18650	0.065000	0.16274	-0.160000	0.10041	-0.461000	0.06993	-0.320000	0.08662	GAG		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
PARP4	143	broad.mit.edu	37	13	25075835	25075835	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25075835C>A	ENST00000381989.3	-	3	375	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	90	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K90N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GATCATAATTCTTTACATCCA	0.398																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	13						.						147.0	150.0	149.0					13																	25075835		2203	4300	6503	23973835	SO:0001583	missense	143	exon3			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.270G>T	13.37:g.25075835C>A	ENSP00000371419:p.Lys90Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23973835	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332566	0.24167	.	.	ENSG00000102699	ENST00000381989	T	0.11385	2.78	5.25	2.54	0.30619	BRCT (2);	0.569323	0.17401	N	0.175546	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.41413	-0.9510	10	0.16420	T	0.52	-0.9938	5.2689	0.15615	0.0:0.6521:0.1674:0.1806	.	90	Q9UKK3	PARP4_HUMAN	N	90	ENSP00000371419:K90N	ENSP00000371419:K90N	K	-	3	2	PARP4	23973835	0.003000	0.15002	0.000000	0.03702	0.655000	0.38815	0.164000	0.16542	0.334000	0.23590	0.655000	0.94253	AAG		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
ATP12A	479	broad.mit.edu	37	13	25265365	25265365	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25265365G>A	ENST00000381946.3	+	8	1212	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	ATP12A_ENST00000218548.6_Missense_Mutation_p.E355K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	349					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.E349K(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAATGTGCCCGAGGGCCTCCT	0.567																																					p.E355K	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1063A	13						.						71.0	54.0	60.0					13																	25265365		2203	4300	6503	24163365	SO:0001583	missense	479	exon8			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1045G>A	13.37:g.25265365G>A	ENSP00000371372:p.Glu349Lys	Somatic		Capture	Illumina HiSeq	Phase_I	24163365	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800882	0.90538	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91792	-2.91;-2.91	5.16	5.16	0.70880	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98248	0.9420	H	0.99939	4.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	D	0.99157	1.0860	10	0.87932	D	0	.	16.1916	0.81992	0.0:0.0:1.0:0.0	.	355;349	P54707-2;P54707	.;AT12A_HUMAN	K	355;349	ENSP00000218548:E355K;ENSP00000371372:E349K	ENSP00000218548:E355K	E	+	1	0	ATP12A	24163365	1.000000	0.71417	0.976000	0.42696	0.649000	0.38597	9.380000	0.97202	2.687000	0.91594	0.462000	0.41574	GAG		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25281302	25281302	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25281302G>A	ENST00000381946.3	+	16	2478	c.2311G>A	c.(2311-2313)Gca>Aca	p.A771T	ATP12A_ENST00000218548.6_Missense_Mutation_p.A777T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	771					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.A771T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGACAACTTCGCATCCATCGT	0.547																																					p.A777T	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2329A	13						.						94.0	82.0	86.0					13																	25281302		2203	4300	6503	24179302	SO:0001583	missense	479	exon16			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2311G>A	13.37:g.25281302G>A	ENSP00000371372:p.Ala771Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24179302	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103851	0.56291	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97870	-4.58;-4.58	5.81	3.99	0.46301	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.069274	0.64402	D	0.000013	D	0.98194	0.9403	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.978	P;B	0.61201	0.885;0.299	D	0.98768	1.0727	10	0.87932	D	0	.	13.354	0.60617	0.0:0.0:0.7157:0.2843	.	777;771	P54707-2;P54707	.;AT12A_HUMAN	T	777;771	ENSP00000218548:A777T;ENSP00000371372:A771T	ENSP00000218548:A777T	A	+	1	0	ATP12A	24179302	1.000000	0.71417	0.101000	0.21167	0.028000	0.11728	6.605000	0.74155	1.421000	0.47157	0.563000	0.77884	GCA		0.547	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RNF17	56163	broad.mit.edu	37	13	25448298	25448298	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25448298G>A	ENST00000255324.5	+	33	4546	c.4494G>A	c.(4492-4494)gcG>gcA	p.A1498A	RNF17_ENST00000339524.3_Silent_p.A508A|RNF17_ENST00000381921.1_Silent_p.A1456A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1498	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A1498A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGTATAGAGCGAAGATTGTTG	0.299																																					p.A1494A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4482A	13						.						122.0	117.0	118.0					13																	25448298		2203	4300	6503	24346298	SO:0001819	synonymous_variant	56163	exon33			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4494G>A	13.37:g.25448298G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24346298	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.299	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
CENPJ	55835	broad.mit.edu	37	13	25486888	25486888	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25486888T>G	ENST00000381884.4	-	2	461	c.276A>C	c.(274-276)aaA>aaC	p.K92N	CENPJ_ENST00000545981.1_Missense_Mutation_p.K92N	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	92					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.K92N(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGGTTTCAGATTTATCTGACT	0.403																																					p.K92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A276C	13						.						195.0	182.0	187.0					13																	25486888		2203	4300	6503	24384888	SO:0001583	missense	55835	exon2			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.276A>C	13.37:g.25486888T>G	ENSP00000371308:p.Lys92Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24384888	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	9.810	1.182846	0.21870	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18960	2.18;2.18	5.44	-1.27	0.09347	.	0.866302	0.10313	N	0.689759	T	0.13457	0.0326	L	0.41027	1.25	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37361	-0.9709	10	0.18276	T	0.48	.	5.4115	0.16351	0.0:0.3316:0.1523:0.5161	.	92	Q9HC77	CENPJ_HUMAN	N	92	ENSP00000371308:K92N;ENSP00000441090:K92N	ENSP00000371308:K92N	K	-	3	2	CENPJ	24384888	0.000000	0.05858	0.001000	0.08648	0.929000	0.56500	-0.655000	0.05348	-0.182000	0.10602	0.533000	0.62120	AAA		0.403	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CENPJ	55835	broad.mit.edu	37	13	25487030	25487030	+	Missense_Mutation	SNP	C	C	T	rs377249179		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25487030C>T	ENST00000381884.4	-	2	319	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.R45Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	45					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.R45Q(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CACAGCTGCTCGCTTCTCTTT	0.423																																					p.R45Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	13						.	C	GLN/ARG	0,4406		0,0,2203	85.0	85.0	85.0		134	-10.5	0.0	13		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	CENPJ	NM_018451.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	45/1339	25487030	1,13005	2203	4300	6503	24385030	SO:0001583	missense	55835	exon2			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.134G>A	13.37:g.25487030C>T	ENSP00000371308:p.Arg45Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24385030	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	1.277	-0.611523	0.03690	0.0	1.16E-4	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.16743	2.32;2.32	5.28	-10.5	0.00291	.	1.238580	0.05693	N	0.592558	T	0.05410	0.0143	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33803	-0.9854	10	0.15066	T	0.55	.	9.2664	0.37643	0.0:0.3478:0.0934:0.5588	.	45	Q9HC77	CENPJ_HUMAN	Q	45	ENSP00000371308:R45Q;ENSP00000441090:R45Q	ENSP00000371308:R45Q	R	-	2	0	CENPJ	24385030	0.002000	0.14202	0.001000	0.08648	0.081000	0.17604	-0.190000	0.09615	-2.295000	0.00662	-2.815000	0.00110	CGA		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
PABPC3	5042	broad.mit.edu	37	13	25671766	25671766	+	Missense_Mutation	SNP	C	C	T	rs141182228		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25671766C>T	ENST00000281589.3	+	1	1467	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	477					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.A477V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCGTGTTGCTAACACATCA	0.547																																					p.A477V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1430T	13						.	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	86.0	78.0	80.0		1430	0.9	1.0	13	dbSNP_134	80	0,8600		0,0,4300	no	missense	PABPC3	NM_030979.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	477/632	25671766	2,13004	2203	4300	6503	24569766	SO:0001583	missense	5042	exon1			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1430C>T	13.37:g.25671766C>T	ENSP00000281589:p.Ala477Val	Somatic		Capture	Illumina HiSeq	Phase_I	24569766	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577418	0.28180	4.54E-4	0.0	ENSG00000151846	ENST00000281589	T	0.30448	1.53	0.875	0.875	0.19130	.	0.133504	0.31589	U	0.007399	T	0.23492	0.0568	L	0.55481	1.735	0.36434	D	0.865081	B	0.06786	0.001	B	0.08055	0.003	T	0.12604	-1.0541	10	0.25106	T	0.35	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	477	Q9H361	PABP3_HUMAN	V	477	ENSP00000281589:A477V	ENSP00000281589:A477V	A	+	2	0	PABPC3	24569766	0.989000	0.36119	0.988000	0.46212	0.126000	0.20510	1.472000	0.35376	0.759000	0.33084	0.313000	0.20887	GCT		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PABPC3	5042	broad.mit.edu	37	13	25671920	25671920	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25671920A>G	ENST00000281589.3	+	1	1621	c.1584A>G	c.(1582-1584)caA>caG	p.Q528Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	528					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.Q528Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACAATGCAACAGCTTGCTG	0.502																																					p.Q528Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1584G	13						.						94.0	86.0	89.0					13																	25671920		2203	4300	6503	24569920	SO:0001819	synonymous_variant	5042	exon1			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1584A>G	13.37:g.25671920A>G		Somatic		Capture	Illumina HiSeq	Phase_I	24569920	NM_030979	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.502	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
NUPL1	9818	broad.mit.edu	37	13	25883390	25883390	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:25883390G>A	ENST00000381736.3	+	3	506	c.256G>A	c.(256-258)Gca>Aca	p.A86T	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.A86T|NUPL1_ENST00000381718.3_Intron	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	86	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.A86T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCAGGAATAGCAACAACTAT	0.333																																					p.A86T	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	13						.						96.0	93.0	94.0					13																	25883390		2203	4300	6503	24781390	SO:0001583	missense	9818	exon3			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.256G>A	13.37:g.25883390G>A	ENSP00000371155:p.Ala86Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24781390	NM_014089	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951987	0.73787	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000463407;ENST00000381747	T;T;T	0.38401	1.23;1.18;1.14	5.18	4.34	0.51931	.	0.067318	0.64402	D	0.000016	T	0.25680	0.0625	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.05241	-1.0897	10	0.13853	T	0.58	-13.3623	12.0425	0.53460	0.0806:0.0:0.9194:0.0	.	86;86	Q9BVL2;Q9BVL2-2	NUPL1_HUMAN;.	T	86;63;86;86	ENSP00000371155:A86T;ENSP00000418555:A86T;ENSP00000371166:A86T	ENSP00000318459:A63T	A	+	1	0	NUPL1	24781390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.741000	0.47426	1.175000	0.42826	0.462000	0.41574	GCA		0.333	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		
ATP8A2	51761	broad.mit.edu	37	13	26129135	26129135	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26129135G>A	ENST00000381655.2	+	13	1334	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D358N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	358					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D398N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCAGGACACAGATATGTATTA	0.388																																					p.D398N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1192A	13						.						89.0	85.0	86.0					13																	26129135		1822	4090	5912	25027135	SO:0001583	missense	51761	exon13			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1192G>A	13.37:g.26129135G>A	ENSP00000371070:p.Asp398Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25027135	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002756	0.93287	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.71934	-0.61;-0.61	5.08	5.08	0.68730	.	0.101217	0.64402	N	0.000002	T	0.79191	0.4404	L	0.41710	1.295	0.58432	D	0.999999	B;D;P	0.65815	0.386;0.995;0.914	B;D;P	0.68621	0.175;0.959;0.754	T	0.81046	-0.1110	10	0.87932	D	0	.	18.6642	0.91483	0.0:0.0:1.0:0.0	.	358;358;358	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	N	398;358;178	ENSP00000371070:D398N;ENSP00000255283:D358N	ENSP00000255283:D358N	D	+	1	0	ATP8A2	25027135	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.493000	0.97960	2.656000	0.90262	0.637000	0.83480	GAT		0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
ATP8A2	51761	broad.mit.edu	37	13	26154071	26154071	+	Missense_Mutation	SNP	G	G	A	rs535509828		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26154071G>A	ENST00000381655.2	+	22	2135	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E625K|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	625					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E665K(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGAGTGTTACGAGATCATTGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		21876	0.0		0.001	False		,,,				2504	0.0				p.E665K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1993A	13						.						93.0	90.0	91.0					13																	26154071		1979	4160	6139	25052071	SO:0001583	missense	51761	exon22			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1993G>A	13.37:g.26154071G>A	ENSP00000371070:p.Glu665Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25052071	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528079	0.96446	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.80738	-1.41;-1.41	5.94	5.94	0.96194	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.049569	0.85682	D	0.000000	D	0.90342	0.6978	M	0.84326	2.69	0.80722	D	1	D;D;P	0.62365	0.991;0.989;0.949	D;P;P	0.62955	0.909;0.852;0.763	D	0.90717	0.4632	10	0.87932	D	0	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	625;445;625	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	K	665;625;445	ENSP00000371070:E665K;ENSP00000255283:E625K	ENSP00000255283:E625K	E	+	1	0	ATP8A2	25052071	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.803000	0.99136	2.816000	0.96949	0.563000	0.77884	GAG		0.428	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
ATP8A2	51761	broad.mit.edu	37	13	26542790	26542790	+	Missense_Mutation	SNP	C	C	T	rs368163155		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26542790C>T	ENST00000381655.2	+	35	3492	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A1052V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1077					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1117V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGGGAAAAGCGGTGCTGCGG	0.527																																					p.A1117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3350T	13						.	C	VAL/ALA	0,3926		0,0,1963	73.0	81.0	78.0		3350	2.7	0.0	13		78	1,8319		0,1,4159	no	missense	ATP8A2	NM_016529.4	64	0,1,6122	TT,TC,CC		0.012,0.0,0.0082	benign	1117/1189	26542790	1,12245	1963	4160	6123	25440790	SO:0001583	missense	51761	exon35			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3350C>T	13.37:g.26542790C>T	ENSP00000371070:p.Ala1117Val	Somatic		Capture	Illumina HiSeq	Phase_I	25440790	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	6.140	0.394026	0.11638	0.0	1.2E-4	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63255	0.4;-0.03	5.53	2.73	0.32206	.	0.206543	0.39909	N	0.001235	T	0.33789	0.0875	N	0.02247	-0.625	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.002	T	0.12502	-1.0545	10	0.13470	T	0.59	.	14.1813	0.65577	0.4183:0.5817:0.0:0.0	.	1052;1077	B7Z880;Q9NTI2	.;AT8A2_HUMAN	V	1117;1052;897	ENSP00000371070:A1117V;ENSP00000255283:A1052V	ENSP00000255283:A1052V	A	+	2	0	ATP8A2	25440790	0.902000	0.30710	0.005000	0.12908	0.459000	0.32528	1.655000	0.37345	0.228000	0.21019	-0.182000	0.12963	GCG		0.527	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
RNF6	6049	broad.mit.edu	37	13	26788658	26788658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26788658C>T	ENST00000381588.4	-	5	2113	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	RNF6_ENST00000399762.2_Missense_Mutation_p.R98Q|RNF6_ENST00000381570.3_Missense_Mutation_p.R454Q|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R454Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	454					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R454Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AACATAGGTTCGAATACCTGA	0.448																																					p.R454Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1361A	13						.						100.0	98.0	99.0					13																	26788658		2203	4300	6503	25686658	SO:0001583	missense	6049	exon5			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1361G>A	13.37:g.26788658C>T	ENSP00000371000:p.Arg454Gln	Somatic		Capture	Illumina HiSeq	Phase_I	25686658	NM_183044	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432583	0.43224	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.24908	2.35;2.35;2.35;1.83	4.49	2.69	0.31865	.	0.157935	0.43747	N	0.000540	T	0.13628	0.0330	L	0.31207	0.915	0.46542	D	0.999094	P;P	0.42827	0.791;0.483	B;B	0.28232	0.087;0.051	T	0.05178	-1.0901	10	0.44086	T	0.13	-5.5066	9.9514	0.41640	0.0:0.8274:0.0:0.1726	.	98;454	B4DDP0;Q9Y252	.;RNF6_HUMAN	Q	454;454;454;98	ENSP00000342121:R454Q;ENSP00000371000:R454Q;ENSP00000370982:R454Q;ENSP00000382665:R98Q	ENSP00000342121:R454Q	R	-	2	0	RNF6	25686658	1.000000	0.71417	0.572000	0.28498	0.975000	0.68041	5.534000	0.67167	0.464000	0.27142	0.455000	0.32223	CGA		0.448	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
RNF6	6049	broad.mit.edu	37	13	26789159	26789159	+	Missense_Mutation	SNP	C	C	A	rs187063789		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26789159C>A	ENST00000381588.4	-	5	1612	c.860G>T	c.(859-861)aGt>aTt	p.S287I	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.S287I|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.S287I	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	287					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S287I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGTAACATTACTTCTAGCCCC	0.443																																					p.S287I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860T	13						.						210.0	201.0	204.0					13																	26789159		2203	4300	6503	25687159	SO:0001583	missense	6049	exon5			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.860G>T	13.37:g.26789159C>A	ENSP00000371000:p.Ser287Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25687159	NM_183044	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501865	0.26949	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.11604	2.76;2.76;2.76	5.02	3.2	0.36748	.	0.126749	0.52532	D	0.000070	T	0.08044	0.0201	N	0.24115	0.695	0.80722	D	1	B	0.16802	0.019	B	0.18871	0.023	T	0.15925	-1.0420	10	0.87932	D	0	-11.5327	9.8172	0.40860	0.0:0.3815:0.4845:0.1339	.	287	Q9Y252	RNF6_HUMAN	I	287	ENSP00000342121:S287I;ENSP00000371000:S287I;ENSP00000370982:S287I	ENSP00000342121:S287I	S	-	2	0	RNF6	25687159	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.726000	0.25984	0.573000	0.29400	-0.357000	0.07601	AGT		0.443	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
RNF6	6049	broad.mit.edu	37	13	26792691	26792691	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:26792691T>G	ENST00000381588.4	-	4	998	c.246A>C	c.(244-246)caA>caC	p.Q82H	RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.Q82H|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Q82H	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	82					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q82H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAGATGCTAGTTGTTCCTTGA	0.393																																					p.Q82H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A246C	13						.						210.0	197.0	202.0					13																	26792691		2203	4300	6503	25690691	SO:0001583	missense	6049	exon4			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.246A>C	13.37:g.26792691T>G	ENSP00000371000:p.Gln82His	Somatic		Capture	Illumina HiSeq	Phase_I	25690691	NM_183044	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	9.877	1.200406	0.22121	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.10005	2.92;2.92;2.92	5.22	-7.61	0.01299	.	0.217217	0.40554	N	0.001075	T	0.06005	0.0156	L	0.41236	1.265	0.27962	N	0.936731	B;B	0.17667	0.013;0.023	B;B	0.12156	0.005;0.007	T	0.10941	-1.0608	10	0.40728	T	0.16	-10.3167	6.3114	0.21166	0.1165:0.503:0.0871:0.2934	.	82;82	Q9Y252;Q9BZP5	RNF6_HUMAN;.	H	82	ENSP00000342121:Q82H;ENSP00000371000:Q82H;ENSP00000370982:Q82H	ENSP00000342121:Q82H	Q	-	3	2	RNF6	25690691	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.937000	0.01547	-1.532000	0.01747	-1.937000	0.00501	CAA		0.393	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
GPR12	2835	broad.mit.edu	37	13	27333399	27333399	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:27333399C>T	ENST00000381436.2	-	1	1028	c.566G>A	c.(565-567)aGc>aAc	p.S189N	GPR12_ENST00000405846.3_Missense_Mutation_p.S189N			P47775	GPR12_HUMAN	G protein-coupled receptor 12	189					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)	p.S189N(1)		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)		TCTGACCACGCTGCAGGTGGA	0.577																																					p.S189N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	13						.						56.0	54.0	54.0					13																	27333399		2203	4300	6503	26231399	SO:0001583	missense	2835	exon2			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.566G>A	13.37:g.27333399C>T	ENSP00000370844:p.Ser189Asn	Somatic		Capture	Illumina HiSeq	Phase_I	26231399	NM_005288	Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813938	0.90790	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.38560	1.13;1.13	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.78324	-0.2248	10	0.72032	D	0.01	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	189	P47775	GPR12_HUMAN	N	189	ENSP00000384932:S189N;ENSP00000370844:S189N	ENSP00000370844:S189N	S	-	2	0	GPR12	26231399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	AGC		0.577	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2		
USP12	219333	broad.mit.edu	37	13	27645234	27645234	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:27645234A>C	ENST00000282344.6	-	8	1241	c.985T>G	c.(985-987)Ttg>Gtg	p.L329V		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	329	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L329V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCAAACAACAACCAAAAATCA	0.279																																					p.L329V	Ovarian(37;808 911 7590 44442 44991)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T985G	13						.						71.0	71.0	71.0					13																	27645234		2203	4295	6498	26543234	SO:0001583	missense	219333	exon8			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.985T>G	13.37:g.27645234A>C	ENSP00000282344:p.Leu329Val	Somatic		Capture	Illumina HiSeq	Phase_I	26543234	NM_182488	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022883	0.54683	.	.	ENSG00000152484	ENST00000282344	T	0.05513	3.43	5.02	3.79	0.43588	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	L	0.52364	1.645	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.00505	-1.1700	10	0.54805	T	0.06	-8.6503	8.5514	0.33453	0.8465:0.0:0.1535:0.0	.	329	O75317	UBP12_HUMAN	V	329	ENSP00000282344:L329V	ENSP00000282344:L329V	L	-	1	2	USP12	26543234	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.964000	0.40462	0.824000	0.34613	0.533000	0.62120	TTG		0.279	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488	
MTIF3	219402	broad.mit.edu	37	13	28009314	28009314	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:28009314G>T	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000381140.4_Missense_Mutation_p.K306N|GTF3A_ENST00000470606.1_3'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTGACAAGAAGAAAATGAAGC	0.343																																					p.K306N												.	.	0			c.G918T	13						.						125.0	110.0	115.0					13																	28009314		1568	3582	5150	26907314	SO:0001628	intergenic_variant	2971	exon8			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009314G>T		Somatic		Capture	Illumina HiSeq	Phase_I	26907314	NM_002097	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617744	0.46736	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	T;T	0.10005	2.92;3.06	4.94	3.17	0.36434	Zinc finger, C2H2 (1);	0.172827	0.64402	D	0.000008	T	0.14917	0.0360	L	0.61218	1.895	0.40900	D	0.984145	P;P	0.44877	0.835;0.845	P;B	0.45232	0.474;0.368	T	0.17930	-1.0353	9	0.66056	D	0.02	-10.5848	8.9276	0.35650	0.2748:0.0:0.7252:0.0	.	281;306	Q92664-2;Q92664	.;TF3A_HUMAN	N	306;119	ENSP00000370532:K306N;ENSP00000393050:K119N	ENSP00000370532:K306N	K	+	3	2	GTF3A	26907314	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.759000	0.38420	1.225000	0.43566	0.650000	0.86243	AAG		0.343	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912	
MTIF3	219402	broad.mit.edu	37	13	28014364	28014364	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:28014364A>C	ENST00000381116.1	-	5	456	c.222T>G	c.(220-222)gcT>gcG	p.A74A	MTIF3_ENST00000431572.2_Silent_p.A74A|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.A74A|MTIF3_ENST00000405591.2_Silent_p.A74A			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	74					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.A74A(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CGTTACTAAAAGCTGTTTTAT	0.388																																					p.A74A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T222G	13						.						117.0	120.0	119.0					13																	28014364		2203	4300	6503	26912364	SO:0001819	synonymous_variant	219402	exon3			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.222T>G	13.37:g.28014364A>C		Somatic		Capture	Illumina HiSeq	Phase_I	26912364	NM_152912	Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	CCDS9322.1																																																																																				0.388	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912	
FLT3	2322	broad.mit.edu	37	13	28589364	28589364	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:28589364C>A	ENST00000241453.7	-	22	2764	c.2683G>T	c.(2683-2685)Gat>Tat	p.D895Y	FLT3_ENST00000537084.1_Missense_Mutation_p.D854Y|FLT3_ENST00000469894.1_5'Flank|FLT3_ENST00000380982.4_Missense_Mutation_p.D898Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D895N(1)|p.D895Y(1)|p.G885fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTTAGCATCAACCGGAATG	0.343			"""Mis, O"""		"""AML, ALL"""																																p.D895Y			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	3	Substitution - Missense(2)|Deletion - Frameshift(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	c.G2683T	13						.						80.0	73.0	75.0					13																	28589364		2203	4300	6503	27487364	SO:0001583	missense	2322	exon22			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2683G>T	13.37:g.28589364C>A	ENSP00000241453:p.Asp895Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27487364	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573214	0.65765	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.83163	-1.69;-1.69;-1.69	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	D	0.85626	0.5740	L	0.35249	1.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.984	D	0.86704	0.1931	10	0.87932	D	0	.	12.0106	0.53284	0.0:0.9205:0.0:0.0795	.	854;895	P36888-2;P36888	.;FLT3_HUMAN	Y	895;898;854	ENSP00000241453:D895Y;ENSP00000370369:D898Y;ENSP00000438139:D854Y	ENSP00000241453:D895Y	D	-	1	0	FLT3	27487364	1.000000	0.71417	0.438000	0.26821	0.989000	0.77384	4.691000	0.61738	2.462000	0.83206	0.655000	0.94253	GAT		0.343	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
FLT3	2322	broad.mit.edu	37	13	28623778	28623778	+	Silent	SNP	G	G	A	rs201609515		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:28623778G>A	ENST00000241453.7	-	7	957	c.876C>T	c.(874-876)ctC>ctT	p.L292L	FLT3_ENST00000537084.1_Silent_p.L292L|FLT3_ENST00000380982.4_Silent_p.L292L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	292	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L292L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTCCTCGAGTGCTTTGT	0.363			"""Mis, O"""		"""AML, ALL"""																																p.L292L			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	13						.	G		0,4406		0,0,2203	133.0	125.0	127.0		876	-2.8	0.0	13		127	1,8599		0,1,4299	no	coding-synonymous	FLT3	NM_004119.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		292/994	28623778	1,13005	2203	4300	6503	27521778	SO:0001819	synonymous_variant	2322	exon7			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.876C>T	13.37:g.28623778G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27521778	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	CCDS31953.1																																																																																				0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
FLT1	2321	broad.mit.edu	37	13	28877352	28877352	+	Silent	SNP	C	C	T	rs142100250		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:28877352C>T	ENST00000282397.4	-	30	4220	c.3969G>A	c.(3967-3969)ccG>ccA	p.P1323P	FLT1_ENST00000543394.1_Silent_p.P346P|FLT1_ENST00000540678.1_Silent_p.P541P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1323					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.P1323P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTCTGGGGGCGGGGAGCAGC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13528	0.0		0.0	False		,,,				2504	0.0				p.P1323P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3969A	13						.	C		6,4400	11.4+/-27.6	0,6,2197	79.0	74.0	76.0		3969	-10.1	0.0	13	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	FLT1	NM_002019.4		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		1323/1339	28877352	6,13000	2203	4300	6503	27775352	SO:0001819	synonymous_variant	2321	exon30			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3969G>A	13.37:g.28877352C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27775352	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	29041216	29041216	+	Missense_Mutation	SNP	C	C	A	rs570784764		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:29041216C>A	ENST00000282397.4	-	3	463	c.212G>T	c.(211-213)aGc>aTc	p.S71I	FLT1_ENST00000539099.1_Missense_Mutation_p.S71I|FLT1_ENST00000541932.1_Missense_Mutation_p.S71I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	71	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.S71I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCCTTTCGCTTTCCTTACT	0.448																																					p.S71I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G212T	13						.						199.0	185.0	190.0					13																	29041216		2203	4300	6503	27939216	SO:0001583	missense	2321	exon3			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.212G>T	13.37:g.29041216C>A	ENSP00000282397:p.Ser71Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27939216	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481034	0.63849	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.67698	-0.28;-0.28;-0.28	5.59	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.405345	0.30068	N	0.010499	T	0.76821	0.4041	M	0.69823	2.125	0.33611	D	0.603544	D;D;D;D;D	0.63880	0.993;0.993;0.99;0.993;0.96	D;P;D;P;P	0.67231	0.917;0.898;0.95;0.898;0.765	T	0.80571	-0.1323	10	0.37606	T	0.19	.	9.8828	0.41245	0.0:0.8408:0.0:0.1592	.	71;71;71;71;71	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	I	71	ENSP00000282397:S71I;ENSP00000437631:S71I;ENSP00000442630:S71I	ENSP00000282397:S71I	S	-	2	0	FLT1	27939216	0.625000	0.27111	0.313000	0.25210	0.973000	0.67179	1.107000	0.31110	0.714000	0.32081	0.650000	0.86243	AGC		0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
SLC46A3	283537	broad.mit.edu	37	13	29287578	29287578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:29287578C>T	ENST00000266943.6	-	3	668	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R100Q	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	100					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R100Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGGGAATTTTCGTCCGTAGTG	0.393																																					p.R100Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	13						.						63.0	59.0	60.0					13																	29287578		2203	4300	6503	28185578	SO:0001583	missense	283537	exon3				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.299G>A	13.37:g.29287578C>T	ENSP00000266943:p.Arg100Gln	Somatic		Capture	Illumina HiSeq	Phase_I	28185578	NM_181785	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546446	0.65198	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	D;D	0.85955	-2.05;-2.05	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.92466	0.7608	M	0.81497	2.545	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.983;0.99	D	0.92661	0.6141	10	0.87932	D	0	-18.1787	15.8933	0.79318	0.0:0.9342:0.0:0.0658	.	25;100;100	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	Q	100	ENSP00000266943:R100Q;ENSP00000370192:R100Q	ENSP00000266943:R100Q	R	-	2	0	SLC46A3	28185578	1.000000	0.71417	0.677000	0.29947	0.036000	0.12997	5.437000	0.66544	2.941000	0.99782	0.655000	0.94253	CGA		0.393	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785	
SLC46A3	283537	broad.mit.edu	37	13	29292092	29292092	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:29292092A>G	ENST00000266943.6	-	2	413	c.44T>C	c.(43-45)tTt>tCt	p.F15S	SLC46A3_ENST00000380814.4_Missense_Mutation_p.F15S	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	15					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F15S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGTCATAGCAAATGCACTAAG	0.373																																					p.F15S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T44C	13						.						118.0	118.0	118.0					13																	29292092		2203	4300	6503	28190092	SO:0001583	missense	283537	exon2				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.44T>C	13.37:g.29292092A>G	ENSP00000266943:p.Phe15Ser	Somatic		Capture	Illumina HiSeq	Phase_I	28190092	NM_181785	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304741	0.60305	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.59772	0.24;0.24	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.79475	2.455	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80023	-0.1556	10	0.72032	D	0.01	-39.0823	15.7022	0.77549	1.0:0.0:0.0:0.0	.	15;15	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	S	15	ENSP00000266943:F15S;ENSP00000370192:F15S	ENSP00000266943:F15S	F	-	2	0	SLC46A3	28190092	1.000000	0.71417	0.329000	0.25429	0.274000	0.26718	7.373000	0.79623	2.098000	0.63641	0.459000	0.35465	TTT		0.373	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785	
MTUS2	23281	broad.mit.edu	37	13	29598903	29598903	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:29598903G>T	ENST00000431530.3	+	1	156	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	23						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R33I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATGCAGCAAGAAATAATAAT	0.468																																					p.R33I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98T	13						.						70.0	67.0	68.0					13																	29598903		1915	4133	6048	28496903	SO:0001583	missense	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.98G>T	13.37:g.29598903G>T	ENSP00000392057:p.Arg33Ile	Somatic		Capture	Illumina HiSeq	Phase_I	28496903	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	9.425	1.084089	0.20309	.	.	ENSG00000132938	ENST00000431530	T	0.14144	2.53	5.84	-2.9	0.05648	.	0.585688	0.16343	N	0.218589	T	0.05914	0.0154	N	0.14661	0.345	0.26258	N	0.978622	P	0.37636	0.603	B	0.35470	0.203	T	0.37526	-0.9702	9	.	.	.	.	8.001	0.30297	0.4697:0.1166:0.4137:0.0	.	23	Q5JR59	MTUS2_HUMAN	I	33	ENSP00000392057:R33I	.	R	+	2	0	MTUS2	28496903	0.189000	0.23263	0.032000	0.17829	0.084000	0.17831	-0.101000	0.10973	-0.690000	0.05142	-1.012000	0.02466	AGA		0.468	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29599705	29599705	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:29599705G>A	ENST00000431530.3	+	1	958	c.900G>A	c.(898-900)tcG>tcA	p.S300S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	290						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S300S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTTGGCATCGAAGGAAATCC	0.512																																					p.S300S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	13						.						39.0	39.0	39.0					13																	29599705		1993	4182	6175	28497705	SO:0001819	synonymous_variant	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.900G>A	13.37:g.29599705G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28497705	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																				0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
SLC7A1	6541	broad.mit.edu	37	13	30097582	30097582	+	Silent	SNP	G	G	A	rs145011879		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:30097582G>A	ENST00000380752.5	-	7	1256	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	290					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.I290I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGACGCCACGATCCCCACGG	0.592																																					p.I290I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	13						.	G		3,4403	6.2+/-15.9	0,3,2200	96.0	77.0	83.0		870	-1.7	0.8	13	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	SLC7A1	NM_003045.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		290/630	30097582	3,13003	2203	4300	6503	28995582	SO:0001819	synonymous_variant	6541	exon7			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.870C>T	13.37:g.30097582G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28995582	NM_003045	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.592	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
HMGB1	3146	broad.mit.edu	37	13	31036703	31036703	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31036703G>C	ENST00000405805.1	-	4	1383	c.443C>G	c.(442-444)gCt>gGt	p.A148G	HMGB1_ENST00000339872.4_Missense_Mutation_p.A148G|HMGB1_ENST00000341423.5_Missense_Mutation_p.A148G|HMGB1_ENST00000399494.1_Missense_Mutation_p.A148G|HMGB1_ENST00000399489.1_Missense_Mutation_p.A148G|HMGB1_ENST00000326004.4_Missense_Mutation_p.A148G|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	148					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.A148G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CAGCTTCGCAGCCTTCTTTTC	0.433																																					p.A148G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C443G	13						.						234.0	202.0	213.0					13																	31036703		2203	4300	6503	29934703	SO:0001583	missense	3146	exon4			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.443C>G	13.37:g.31036703G>C	ENSP00000384678:p.Ala148Gly	Somatic		Capture	Illumina HiSeq	Phase_I	29934703	NM_002128	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462120	0.96240	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000326004	D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.31	5.31	0.75309	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.53938	D	0.000051	D	0.98457	0.9486	H	0.94771	3.58	0.80722	D	1	D;D;D;P	0.63046	0.992;0.987;0.978;0.779	D;D;D;D	0.79784	0.993;0.963;0.987;0.977	D	0.99449	1.0940	10	0.72032	D	0.01	.	18.9603	0.92676	0.0:0.0:1.0:0.0	.	148;109;148;148	B7Z965;B3KQ05;P09429;Q5T7C4	.;.;HMGB1_HUMAN;.	G	148	ENSP00000384678:A148G;ENSP00000343040:A148G;ENSP00000345347:A148G;ENSP00000382412:A148G;ENSP00000382417:A148G;ENSP00000369904:A148G	ENSP00000369904:A148G	A	-	2	0	HMGB1	29934703	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	9.666000	0.98612	2.482000	0.83794	0.643000	0.83706	GCT		0.433	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	
USPL1	10208	broad.mit.edu	37	13	31232879	31232879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31232879C>T	ENST00000255304.4	+	9	3007	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	889					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.R889C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TCATAAACTTCGTCTAAAACT	0.403																																					p.R889C	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2665T	13						.						58.0	56.0	57.0					13																	31232879		2203	4300	6503	30130879	SO:0001583	missense	10208	exon9			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2665C>T	13.37:g.31232879C>T	ENSP00000255304:p.Arg889Cys	Somatic		Capture	Illumina HiSeq	Phase_I	30130879	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390383	0.62066	.	.	ENSG00000132952	ENST00000255304	T	0.27256	1.68	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.66939	2.045	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.48031	-0.9070	10	0.87932	D	0	-17.6859	14.7614	0.69610	0.1444:0.8555:0.0:0.0	.	889	Q5W0Q7	USPL1_HUMAN	C	889	ENSP00000255304:R889C	ENSP00000255304:R889C	R	+	1	0	USPL1	30130879	1.000000	0.71417	0.999000	0.59377	0.496000	0.33645	2.781000	0.47750	2.726000	0.93360	0.655000	0.94253	CGT		0.403	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
ALOX5AP	241	broad.mit.edu	37	13	31318201	31318201	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31318201C>A	ENST00000380490.3	+	2	173	c.75C>A	c.(73-75)ttC>ttA	p.F25L	ALOX5AP_ENST00000479597.1_3'UTR	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	25	Inhibitor binding.				arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)	p.F25L(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TGGCAGGATTCTTTGCCCATA	0.493																																					p.F25L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C75A	13						.						84.0	75.0	78.0					13																	31318201		2203	4300	6503	30216201	SO:0001583	missense	241	exon2			AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.75C>A	13.37:g.31318201C>A	ENSP00000369858:p.Phe25Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30216201	NM_001629	Q5VV04	Missense_Mutation	SNP	ENST00000380490.3	37	CCDS9337.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298972	0.60195	.	.	ENSG00000132965	ENST00000380490	T	0.56776	0.44	5.78	5.78	0.91487	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.046212	0.85682	D	0.000000	T	0.67373	0.2886	L	0.59436	1.845	0.51767	D	0.999939	D	0.54601	0.967	P	0.62885	0.908	T	0.68243	-0.5460	10	0.66056	D	0.02	-7.3549	15.5017	0.75703	0.0:1.0:0.0:0.0	.	25	P20292	AL5AP_HUMAN	L	25	ENSP00000369858:F25L	ENSP00000369858:F25L	F	+	3	2	ALOX5AP	30216201	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.285000	0.43487	2.731000	0.93534	0.555000	0.69702	TTC		0.493	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629	
MEDAG	84935	broad.mit.edu	37	13	31495721	31495721	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31495721G>T	ENST00000380482.4	+	4	850	c.525G>T	c.(523-525)aaG>aaT	p.K175N	TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	175					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)		p.K175N(1)									AGGCAGTGAAGAATTTCTTCC	0.358																																					p.K175N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G525T	13						.						89.0	90.0	89.0					13																	31495721		2203	4300	6503	30393721	SO:0001583	missense	84935	exon4			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.525G>T	13.37:g.31495721G>T	ENSP00000369849:p.Lys175Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30393721	NM_032849	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	CCDS9338.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485588	0.26686	.	.	ENSG00000102802	ENST00000380482	T	0.51574	0.7	5.47	4.6	0.57074	.	0.324362	0.34386	N	0.004008	T	0.35158	0.0922	N	0.24115	0.695	0.33835	D	0.630763	B	0.25609	0.13	B	0.28849	0.095	T	0.48969	-0.8987	10	0.59425	D	0.04	-7.282	10.6913	0.45872	0.094:0.0:0.906:0.0	.	175	Q5VYS4	CM033_HUMAN	N	175	ENSP00000369849:K175N	ENSP00000369849:K175N	K	+	3	2	C13orf33	30393721	1.000000	0.71417	0.995000	0.50966	0.452000	0.32318	3.168000	0.50801	1.252000	0.44001	0.563000	0.77884	AAG		0.358	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849	
HSPH1	10808	broad.mit.edu	37	13	31711477	31711477	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31711477G>T	ENST00000320027.5	-	18	2899	c.2555C>A	c.(2554-2556)tCt>tAt	p.S852Y	HSPH1_ENST00000380405.4_Missense_Mutation_p.S808Y|HSPH1_ENST00000429785.2_Missense_Mutation_p.S671Y|HSPH1_ENST00000445273.2_Missense_Mutation_p.S854Y|HSPH1_ENST00000380406.5_Missense_Mutation_p.S811Y	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	852					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S852Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CATATTAACAGAATTTTTCTC	0.308																																					p.S852Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2555A	13						.						159.0	149.0	153.0					13																	31711477		2203	4300	6503	30609477	SO:0001583	missense	10808	exon18			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2555C>A	13.37:g.31711477G>T	ENSP00000318687:p.Ser852Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30609477	NM_006644	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064561	0.36470	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.04603	4.98;4.98;4.89;4.84;3.59	5.85	4.97	0.65823	.	0.464567	0.20686	N	0.087544	T	0.08626	0.0214	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P	0.50819	0.925;0.939;0.874;0.875;0.874	B;P;B;B;B	0.46940	0.26;0.532;0.178;0.424;0.243	T	0.07501	-1.0769	10	0.62326	D	0.03	-4.4725	17.0141	0.86413	0.0:0.1268:0.8731:0.0	.	671;811;854;808;852	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Y	852;808;811;854;671	ENSP00000318687:S852Y;ENSP00000369768:S808Y;ENSP00000369769:S811Y;ENSP00000396090:S854Y;ENSP00000388778:S671Y	ENSP00000318687:S852Y	S	-	2	0	HSPH1	30609477	0.884000	0.30299	0.029000	0.17559	0.942000	0.58702	3.402000	0.52608	2.767000	0.95098	0.563000	0.77884	TCT		0.308	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		
B3GALTL	145173	broad.mit.edu	37	13	31822011	31822011	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:31822011A>G	ENST00000343307.4	+	6	516	c.367A>G	c.(367-369)Aga>Gga	p.R123G		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	123					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R123G(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AACATATAGCAGAAATTCATC	0.328																																					p.R123G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A367G	13						.						44.0	41.0	42.0					13																	31822011		2202	4297	6499	30720011	SO:0001583	missense	145173	exon6			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.367A>G	13.37:g.31822011A>G	ENSP00000343002:p.Arg123Gly	Somatic		Capture	Illumina HiSeq	Phase_I	30720011	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.388926	0.42308	.	.	ENSG00000187676	ENST00000343307	T	0.63580	-0.05	5.72	3.27	0.37495	.	0.204711	0.48767	N	0.000163	T	0.56688	0.2002	M	0.62723	1.935	0.37277	D	0.907659	P	0.35872	0.525	B	0.37267	0.245	T	0.58446	-0.7635	10	0.45353	T	0.12	-12.687	8.3703	0.32410	0.7979:0.1333:0.0689:0.0	.	123	Q6Y288	B3GLT_HUMAN	G	123	ENSP00000343002:R123G	ENSP00000343002:R123G	R	+	1	2	B3GALTL	30720011	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.169000	0.50809	0.515000	0.28320	0.533000	0.62120	AGA		0.328	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
RXFP2	122042	broad.mit.edu	37	13	32365953	32365953	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32365953A>C	ENST00000298386.2	+	15	1227	c.1156A>C	c.(1156-1158)Aac>Cac	p.N386H	RXFP2_ENST00000380314.1_Missense_Mutation_p.N362H	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	386					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.N386H(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTATTTCAAAAACTTTCGATA	0.443																																					p.N362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1084C	13						.						139.0	126.0	131.0					13																	32365953		2203	4300	6503	31263953	SO:0001583	missense	122042	exon14			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1156A>C	13.37:g.32365953A>C	ENSP00000298386:p.Asn386His	Somatic		Capture	Illumina HiSeq	Phase_I	31263953	NM_001166058	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.531606	0.45073	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04862	4.27;3.54	5.62	5.62	0.85841	.	0.242964	0.47093	D	0.000251	T	0.08088	0.0202	L	0.55481	1.735	0.28411	N	0.918206	B;B	0.12630	0.006;0.003	B;B	0.13407	0.009;0.004	T	0.22103	-1.0226	10	0.14656	T	0.56	.	13.772	0.63032	1.0:0.0:0.0:0.0	.	362;386	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	H	362;386	ENSP00000369670:N362H;ENSP00000298386:N386H	ENSP00000298386:N386H	N	+	1	0	RXFP2	31263953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.572000	0.53849	2.150000	0.67090	0.533000	0.62120	AAC		0.443	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
FRY	10129	broad.mit.edu	37	13	32735306	32735306	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32735306C>A	ENST00000380250.3	+	17	2306	c.1810C>A	c.(1810-1812)Ctt>Att	p.L604I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	604						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L604I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAATAGATCTTTTCAGGAC	0.348																																					p.L604I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1810A	13						.						162.0	148.0	153.0					13																	32735306		1865	4094	5959	31633306	SO:0001583	missense	10129	exon17			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1810C>A	13.37:g.32735306C>A	ENSP00000369600:p.Leu604Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31633306	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808640	0.90707	.	.	ENSG00000073910	ENST00000380250	T	0.65178	-0.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.85273	0.1057	10	0.87932	D	0	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	604	Q5TBA9	FRY_HUMAN	I	604	ENSP00000369600:L604I	ENSP00000369600:L604I	L	+	1	0	FRY	31633306	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.305000	0.51873	2.680000	0.91292	0.655000	0.94253	CTT		0.348	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32802787	32802787	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32802787A>G	ENST00000380250.3	+	40	5897	c.5401A>G	c.(5401-5403)Acc>Gcc	p.T1801A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1801						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T1801A(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTTTCTCACGACCAGGTAATA	0.493																																					p.T1801A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5401G	13						.						88.0	92.0	91.0					13																	32802787		1993	4153	6146	31700787	SO:0001583	missense	10129	exon40			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5401A>G	13.37:g.32802787A>G	ENSP00000369600:p.Thr1801Ala	Somatic		Capture	Illumina HiSeq	Phase_I	31700787	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.393739	0.83011	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23147	1.92	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.54323	1.7	0.80722	D	1	B	0.33777	0.425	B	0.36608	0.229	T	0.02736	-1.1117	10	0.35671	T	0.21	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	1801	Q5TBA9	FRY_HUMAN	A	1801;638	ENSP00000369600:T1801A	ENSP00000369600:T1801A	T	+	1	0	FRY	31700787	1.000000	0.71417	0.936000	0.37596	0.765000	0.43378	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	ACC		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32811933	32811933	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32811933C>T	ENST00000380250.3	+	44	6724	c.6228C>T	c.(6226-6228)ctC>ctT	p.L2076L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2076						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L2076L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATATGCCACTCGATAAGGCTG	0.498																																					p.L2076L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6228T	13						.						54.0	56.0	55.0					13																	32811933		1950	4160	6110	31709933	SO:0001819	synonymous_variant	10129	exon44			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6228C>T	13.37:g.32811933C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31709933	NM_023037	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32813456	32813456	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32813456C>A	ENST00000380250.3	+	45	6982	c.6486C>A	c.(6484-6486)ttC>ttA	p.F2162L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2162						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F2162L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAATCAGTTCTGTAAGGATA	0.453																																					p.F2162L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6486A	13						.						129.0	118.0	121.0					13																	32813456		1888	4124	6012	31711456	SO:0001583	missense	10129	exon45			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6486C>A	13.37:g.32813456C>A	ENSP00000369600:p.Phe2162Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31711456	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823196	0.50739	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21543	2.0	5.63	3.89	0.44902	.	0.045002	0.85682	D	0.000000	T	0.30166	0.0756	L	0.39898	1.24	0.80722	D	1	D	0.52996	0.957	D	0.64321	0.924	T	0.02404	-1.1164	10	0.20519	T	0.43	.	10.4575	0.44559	0.0:0.7866:0.0:0.2134	.	2162	Q5TBA9	FRY_HUMAN	L	2162;999	ENSP00000369600:F2162L	ENSP00000369600:F2162L	F	+	3	2	FRY	31711456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.400000	0.34577	1.528000	0.49103	0.655000	0.94253	TTC		0.453	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32835944	32835944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32835944C>A	ENST00000380250.3	+	52	8104	c.7608C>A	c.(7606-7608)caC>caA	p.H2536Q	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2536						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H2536Q(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTGGAGCACTCAGACCTAG	0.488																																					p.H2536Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7608A	13						.						47.0	50.0	49.0					13																	32835944		1972	4155	6127	31733944	SO:0001583	missense	10129	exon52			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7608C>A	13.37:g.32835944C>A	ENSP00000369600:p.His2536Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31733944	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722642	0.30503	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.21734	1.99	5.63	3.89	0.44902	.	0.237244	0.49916	D	0.000139	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11941	-1.0567	10	0.15066	T	0.55	.	8.3169	0.32106	0.1266:0.7376:0.0:0.1358	.	317;2536	Q8NB82;Q5TBA9	.;FRY_HUMAN	Q	2536;180	ENSP00000369600:H2536Q	ENSP00000369567:H180Q	H	+	3	2	FRY	31733944	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	0.650000	0.24858	0.728000	0.32382	0.655000	0.94253	CAC		0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32836532	32836532	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32836532C>A	ENST00000380250.3	+	53	8195	c.7699C>A	c.(7699-7701)Cat>Aat	p.H2567N	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2567						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H2567N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCAGAACCTCATTCCTTTAA	0.453																																					p.H2567N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7699A	13						.						96.0	95.0	95.0					13																	32836532		1950	4157	6107	31734532	SO:0001583	missense	10129	exon53			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7699C>A	13.37:g.32836532C>A	ENSP00000369600:p.His2567Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31734532	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690524	0.68271	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.21191	2.02	6.03	6.03	0.97812	.	0.195804	0.53938	D	0.000054	T	0.20536	0.0494	L	0.35723	1.085	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.07385	-1.0775	10	0.17832	T	0.49	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	348;2567	Q8NB82;Q5TBA9	.;FRY_HUMAN	N	2567;211	ENSP00000369600:H2567N	ENSP00000369567:H211N	H	+	1	0	FRY	31734532	0.715000	0.27946	0.070000	0.20053	0.736000	0.42039	5.363000	0.66104	2.861000	0.98227	0.655000	0.94253	CAT		0.453	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
BRCA2	675	broad.mit.edu	37	13	32907050	32907050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32907050G>T	ENST00000380152.3	+	10	1668	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.D479Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	479					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.D479Y(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTCATACAGACTGCATTCT	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.D479Y	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1435T	13						.						65.0	69.0	67.0					13																	32907050		2203	4299	6502	31805050	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1435G>T	13.37:g.32907050G>T	ENSP00000369497:p.Asp479Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31805050	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291563	0.23564	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00768	5.72;5.72	5.15	4.31	0.51392	.	0.283792	0.30320	N	0.009896	T	0.03053	0.0090	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.927;0.963	T	0.21211	-1.0252	10	0.66056	D	0.02	.	9.9338	0.41539	0.0953:0.0:0.9047:0.0	.	479;479	P51587;A1YBP1	BRCA2_HUMAN;.	Y	479;479;477	ENSP00000369497:D479Y;ENSP00000439902:D479Y	ENSP00000369497:D479Y	D	+	1	0	BRCA2	31805050	0.062000	0.20869	0.052000	0.19188	0.013000	0.08279	2.108000	0.41854	1.281000	0.44480	0.655000	0.94253	GAC		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32912067	32912067	+	Missense_Mutation	SNP	T	T	G	rs80358606		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32912067T>G	ENST00000380152.3	+	11	3808	c.3575T>G	c.(3574-3576)tTt>tGt	p.F1192C	BRCA2_ENST00000544455.1_Missense_Mutation_p.F1192C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1192					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F1192C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAACGGAAGTTTGCTGGCCTG	0.408			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.F1192C	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3575G	13						.						86.0	89.0	88.0					13																	32912067		2203	4300	6503	31810067	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3575T>G	13.37:g.32912067T>G	ENSP00000369497:p.Phe1192Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31810067	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	9.830	1.188079	0.21954	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00745	5.75;5.75	5.84	-3.84	0.04256	.	1.219750	0.05523	N	0.562460	T	0.01320	0.0043	M	0.62723	1.935	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.40942	-0.9536	10	0.46703	T	0.11	.	5.3593	0.16079	0.1044:0.4981:0.1061:0.2914	.	1192	P51587	BRCA2_HUMAN	C	1192	ENSP00000369497:F1192C;ENSP00000439902:F1192C	ENSP00000369497:F1192C	F	+	2	0	BRCA2	31810067	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.718000	0.04980	-0.569000	0.06030	0.533000	0.62120	TTT		0.408	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32953924	32953924	+	Nonsense_Mutation	SNP	T	T	G	rs80359736|rs397508028		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32953924T>G	ENST00000380152.3	+	23	9224	c.8991T>G	c.(8989-8991)taT>taG	p.Y2997*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Y2997*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2997					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Y2997*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGATTTATATTCTCTGTTAA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.Y2997X	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T8991G	13	GRCh37	CM070045	BRCA2	M		.						79.0	79.0	79.0					13																	32953924		2203	4297	6500	31851924	SO:0001587	stop_gained	675	exon23	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8991T>G	13.37:g.32953924T>G	ENSP00000369497:p.Tyr2997*	Somatic		Capture	Illumina HiSeq	Phase_I	31851924	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	51	17.774152	0.99893	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.66	0.453	0.16639	.	0.574777	0.19695	N	0.108175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.868	0.18786	0.0:0.2084:0.1291:0.6625	.	.	.	.	X	2997	.	ENSP00000369497:Y2997X	Y	+	3	2	BRCA2	31851924	0.142000	0.22610	0.109000	0.21407	0.990000	0.78478	0.391000	0.20784	-0.061000	0.13110	0.533000	0.62120	TAT		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
N4BP2L1	90634	broad.mit.edu	37	13	32972606	32972606	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32972606C>A	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3319Y|BRCA2_ENST00000544455.1_Missense_Mutation_p.S3319Y	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.S3319Y(2)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		GAACTGAATTCTCCTCAGATG	0.368																																					p.S3319Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9956A	13						.						58.0	62.0	61.0					13																	32972606		2203	4300	6503	31870606	SO:0001628	intergenic_variant	675	exon27			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972606C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31870606	NM_000059	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288926	0.23478	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00808	5.67;5.67	5.57	2.92	0.33932	.	0.565460	0.17343	N	0.177670	T	0.02304	0.0071	M	0.72894	2.215	0.09310	N	1	P	0.52316	0.952	P	0.48921	0.595	T	0.37979	-0.9682	10	0.87932	D	0	.	9.1516	0.36967	0.0:0.5855:0.0:0.4145	.	3319	P51587	BRCA2_HUMAN	Y	3319	ENSP00000369497:S3319Y;ENSP00000439902:S3319Y	ENSP00000369497:S3319Y	S	+	2	0	BRCA2	31870606	0.000000	0.05858	0.141000	0.22245	0.684000	0.39900	0.211000	0.17474	0.320000	0.23234	0.467000	0.42956	TCT		0.368	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818	
N4BP2L1	90634	broad.mit.edu	37	13	32978488	32978488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32978488C>T	ENST00000380133.2	-	4	493	c.443G>A	c.(442-444)cGc>cAc	p.R148H	N4BP2L1_ENST00000380139.4_Intron|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.R148H|N4BP2L1_ENST00000530622.2_Missense_Mutation_p.R42H			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	148								p.R148H(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		GAATTTCCAGCGAGTGTCAGG	0.343																																					p.R148H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	13						.						97.0	86.0	90.0					13																	32978488		2202	4300	6502	31876488	SO:0001583	missense	90634	exon4			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.443G>A	13.37:g.32978488C>T	ENSP00000369476:p.Arg148His	Somatic		Capture	Illumina HiSeq	Phase_I	31876488	NM_052818	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416541	0.25552	.	.	ENSG00000139597	ENST00000380130;ENST00000530622;ENST00000380133	T;T	0.42900	0.96;0.96	5.95	5.11	0.69529	Zeta toxin domain (1);	0.423542	0.20714	N	0.087032	T	0.23766	0.0575	N	0.11560	0.145	0.36427	D	0.864658	B	0.14012	0.009	B	0.12837	0.008	T	0.15009	-1.0452	10	0.41790	T	0.15	.	8.66	0.34086	0.0:0.725:0.1349:0.1401	.	148	Q5TBK1	N42L1_HUMAN	H	148;42;148	ENSP00000369473:R148H;ENSP00000369476:R148H	ENSP00000369473:R148H	R	-	2	0	N4BP2L1	31876488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.494000	0.35616	1.526000	0.49068	0.655000	0.94253	CGC		0.343	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818	
N4BP2L2	10443	broad.mit.edu	37	13	33016916	33016916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:33016916G>T	ENST00000504114.1	-	6	1804	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.C586*|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.C571*|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.C586*(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGATGCAGAGCACCTTAGTC	0.318																																					p.C586X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1758A	13						.						36.0	35.0	35.0					13																	33016916		1842	4092	5934	31914916	SO:0001587	stop_gained	10443	exon7			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1713C>A	13.37:g.33016916G>T	ENSP00000427477:p.Cys571*	Somatic		Capture	Illumina HiSeq	Phase_I	31914916	NM_033111	A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.143140	0.77888	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.02	-2.81	0.05805	.	1.768160	0.02776	N	0.120321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9351	2.8922	0.05679	0.5043:0.1591:0.227:0.1097	.	.	.	.	X	469;498;571;571;586	.	.	C	-	3	2	N4BP2L2;RP11-298P3.4	31914916	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.668000	0.05268	-0.319000	0.08652	0.555000	0.69702	TGC		0.318	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887	
N4BP2L2	10443	broad.mit.edu	37	13	33017245	33017245	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:33017245T>C	ENST00000504114.1	-	6	1475	c.1384A>G	c.(1384-1386)Aat>Gat	p.N462D	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.N477D|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.N462D|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.N477D(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTAAGGCATTCTTTGGTATA	0.353																																					p.N477D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1429G	13						.						72.0	62.0	65.0					13																	33017245		1819	4076	5895	31915245	SO:0001583	missense	10443	exon7			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1384A>G	13.37:g.33017245T>C	ENSP00000427477:p.Asn462Asp	Somatic		Capture	Illumina HiSeq	Phase_I	31915245	NM_033111	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	T	6.208	0.406457	0.11754	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.72	1.71	0.24356	.	1.552480	0.03419	N	0.206073	T	0.31327	0.0793	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.27732	0.119;0.119;0.187;0.187	B;B;B;B	0.24155	0.051;0.051;0.051;0.051	T	0.29822	-0.9999	9	0.59425	D	0.04	-0.0114	7.0781	0.25215	0.1388:0.0:0.2892:0.572	.	462;477;360;360	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	D	360;389;462;462;477	.	ENSP00000350104:N462D	N	-	1	0	N4BP2L2;RP11-298P3.4	31915245	0.000000	0.05858	0.045000	0.18777	0.029000	0.11900	-0.130000	0.10498	0.418000	0.25898	0.528000	0.53228	AAT		0.353	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887	
N4BP2L2	10443	broad.mit.edu	37	13	33110158	33110158	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:33110158T>G	ENST00000267068.3	-	2	1171	c.1007A>C	c.(1006-1008)gAa>gCa	p.E336A	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E336A|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	336					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.E336A(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCAGTATATTCATTGTTCTG	0.358																																					p.E336A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1007C	13						.						89.0	86.0	87.0					13																	33110158		2203	4300	6503	32008158	SO:0001583	missense	10443	exon2			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1007A>C	13.37:g.33110158T>G	ENSP00000267068:p.Glu336Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32008158	NM_014887	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323951	0.24080	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.46063	0.89;0.88;0.89	5.94	0.237	0.15475	.	.	.	.	.	T	0.21761	0.0524	N	0.21448	0.665	0.09310	N	1	P;P	0.35077	0.483;0.483	B;B	0.24974	0.057;0.039	T	0.11494	-1.0585	9	0.24483	T	0.36	-15.3069	7.5094	0.27564	0.0:0.2009:0.1118:0.6873	.	336;336	D6R968;Q92802	.;N42L2_HUMAN	A	336	ENSP00000394239:E336A;ENSP00000423362:E336A;ENSP00000267068:E336A	ENSP00000267068:E336A	E	-	2	0	N4BP2L2	32008158	0.000000	0.05858	0.000000	0.03702	0.748000	0.42578	0.034000	0.13776	0.138000	0.18790	0.528000	0.53228	GAA		0.358	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887	
NBEA	26960	broad.mit.edu	37	13	35615082	35615082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:35615082G>T	ENST00000400445.3	+	2	841	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.E103*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.E103*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.E103*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.E103*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTTGGTGGAGAATTTGACTT	0.363																																					p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	13						.						106.0	97.0	100.0					13																	35615082		1866	4122	5988	34513082	SO:0001587	stop_gained	26960	exon2			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.307G>T	13.37:g.35615082G>T	ENSP00000383295:p.Glu103*	Somatic		Capture	Illumina HiSeq	Phase_I	34513082	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	43	10.204185	0.99359	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000308534:E103X	E	+	1	0	NBEA	34513082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.672000	0.68102	2.717000	0.92951	0.585000	0.79938	GAA		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	35672435	35672435	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:35672435G>A	ENST00000400445.3	+	11	2107	c.1573G>A	c.(1573-1575)Gct>Act	p.A525T	NBEA_ENST00000379939.2_Splice_Site_p.A525T|NBEA_ENST00000310336.4_Splice_Site_p.A525T|NBEA_ENST00000540320.1_Splice_Site_p.A525T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	525					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.A525T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACATGCAGTGCTACTCTGTT	0.363																																					p.A525T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1573A	13						.						72.0	63.0	66.0					13																	35672435		1887	4124	6011	34570435	SO:0001630	splice_region_variant	26960	exon11			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1572-1G>A	13.37:g.35672435G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34570435	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802769	0.50315	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.11560	0.145	0.80722	D	1	B	0.26363	0.147	B	0.24701	0.055	T	0.14392	-1.0474	10	0.44086	T	0.13	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	525	Q5T321	.	T	525	ENSP00000440951:A525T;ENSP00000383295:A525T;ENSP00000369271:A525T;ENSP00000308534:A525T	ENSP00000308534:A525T	A	+	1	0	NBEA	34570435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.345000	0.79718	0.585000	0.79938	GCT		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	Missense_Mutation
NBEA	26960	broad.mit.edu	37	13	35733384	35733384	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:35733384G>T	ENST00000400445.3	+	22	3610	c.3076G>T	c.(3076-3078)Gac>Tac	p.D1026Y	NBEA_ENST00000379939.2_Missense_Mutation_p.D1026Y|NBEA_ENST00000310336.4_Missense_Mutation_p.D1026Y|NBEA_ENST00000540320.1_Missense_Mutation_p.D1026Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1026					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.D1026Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGATACTCGAGACTTACTCAT	0.408																																					p.D1026Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3076T	13						.						89.0	85.0	86.0					13																	35733384		1931	4139	6070	34631384	SO:0001583	missense	26960	exon22			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3076G>T	13.37:g.35733384G>T	ENSP00000383295:p.Asp1026Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34631384	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386177	0.42308	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.49	5.49	0.81192	.	0.064498	0.64402	D	0.000013	T	0.33118	0.0852	N	0.08118	0	0.80722	D	1	B	0.30664	0.289	B	0.28916	0.096	T	0.29671	-1.0004	10	0.66056	D	0.02	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	1026	Q5T321	.	Y	1026	ENSP00000440951:D1026Y;ENSP00000383295:D1026Y;ENSP00000369271:D1026Y;ENSP00000308534:D1026Y	ENSP00000308534:D1026Y	D	+	1	0	NBEA	34631384	1.000000	0.71417	0.959000	0.39883	0.934000	0.57294	6.718000	0.74713	2.603000	0.88011	0.650000	0.86243	GAC		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
DCLK1	9201	broad.mit.edu	37	13	36396921	36396921	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:36396921T>C	ENST00000360631.3	-	11	1710	c.1499A>G	c.(1498-1500)aAa>aGa	p.K500R	DCLK1_ENST00000255448.4_Missense_Mutation_p.K500R|DCLK1_ENST00000379893.1_Missense_Mutation_p.K193R			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.K500R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGCAGGTATTTGATGGCGCT	0.507																																					p.K193R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A578G	13						.						245.0	202.0	216.0					13																	36396921		2203	4300	6503	35294921	SO:0001583	missense	9201	exon7			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1499A>G	13.37:g.36396921T>C	ENSP00000353846:p.Lys500Arg	Somatic		Capture	Illumina HiSeq	Phase_I	35294921	NM_001195416	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.01|15.01	2.705088|2.705088	0.48412|0.48412	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000539451|ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	.|T;T;T	.|0.66638	.|-0.22;-0.22;-0.22	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.49201	.|0.1543	N|N	0.11023|0.11023	0.085|0.085	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16166	.|0.01;0.016;0.01	.|B;B;B	.|0.21708	.|0.012;0.036;0.012	.|T	.|0.44528	.|-0.9322	.|10	.|0.19590	.|T	.|0.45	.|.	16.2159|16.2159	0.82217|0.82217	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|193;500;193	.|O15075-4;O15075-2;O15075-3	.|.;.;.	.|R	-1|192;500;500;193	.|ENSP00000255448:K500R;ENSP00000353846:K500R;ENSP00000369223:K193R	.|ENSP00000255448:K500R	.|K	-|-	.|2	.|0	DCLK1|DCLK1	35294921|35294921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.101000|6.101000	0.71479|0.71479	2.243000|2.243000	0.73865|0.73865	0.533000|0.533000	0.62120|0.62120	.|AAA		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SOHLH2	54937	broad.mit.edu	37	13	36744763	36744763	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:36744763G>T	ENST00000379881.3	-	10	1250	c.1162C>A	c.(1162-1164)Cat>Aat	p.H388N	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.H465N|SOHLH2_ENST00000554962.1_Missense_Mutation_p.H465N	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	388					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H388N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAAGGTAAATGAATTGAAATG	0.483																																					p.H388N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162A	13						.						137.0	123.0	128.0					13																	36744763		2203	4300	6503	35642763	SO:0001583	missense	54937	exon10			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1162C>A	13.37:g.36744763G>T	ENSP00000369210:p.His388Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35642763	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	5.971	0.363175	0.11296	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.28666	1.6;1.6;1.6	5.14	2.14	0.27477	.	0.608207	0.15692	N	0.249369	T	0.17831	0.0428	L	0.34521	1.04	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.32370	T	0.25	-0.2525	2.1761	0.03863	0.1135:0.1792:0.4956:0.2118	.	465;388	B4DX90;Q9NX45	.;SOLH2_HUMAN	N	388;465;465	ENSP00000369210:H388N;ENSP00000451542:H465N;ENSP00000421868:H465N	ENSP00000421868:H465N	H	-	1	0	CCDC169-SOHLH2;SOHLH2	35642763	0.672000	0.27530	0.225000	0.23894	0.603000	0.37013	0.683000	0.25349	1.139000	0.42245	0.655000	0.94253	CAT		0.483	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SERTM1	400120	broad.mit.edu	37	13	37269536	37269536	+	Silent	SNP	C	C	A	rs150035894	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37269536C>A	ENST00000315190.3	+	2	767	c.321C>A	c.(319-321)tcC>tcA	p.S107S		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	107						integral component of membrane (GO:0016021)		p.S107S(1)									ACCTTTCATCCTGAGGAAAAT	0.473																																					p.S107S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321A	13						.						48.0	49.0	49.0					13																	37269536		2203	4300	6503	36167536	SO:0001819	synonymous_variant	400120	exon2				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.321C>A	13.37:g.37269536C>A		Somatic		Capture	Illumina HiSeq	Phase_I	36167536	NM_203451	Q8N469	Silent	SNP	ENST00000315190.3	37	CCDS9358.1																																																																																				0.473	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	
CSNK1A1L	122011	broad.mit.edu	37	13	37678626	37678626	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37678626G>A	ENST00000379800.3	-	1	1177	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F256F(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTACATGGCGAATTCTGCAG	0.433																																					p.F256F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C768T	13						.						133.0	129.0	130.0					13																	37678626		2203	4300	6503	36576626	SO:0001819	synonymous_variant	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.768C>T	13.37:g.37678626G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36576626	NM_145203	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.433	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
CSNK1A1L	122011	broad.mit.edu	37	13	37678924	37678924	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37678924T>C	ENST00000379800.3	-	1	879	c.470A>G	c.(469-471)gAt>gGt	p.D157G		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D157G(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CAAACCAAAATCAATAAGGAA	0.418																																					p.D157G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A470G	13						.						213.0	196.0	202.0					13																	37678924		2203	4300	6503	36576924	SO:0001583	missense	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.470A>G	13.37:g.37678924T>C	ENSP00000369126:p.Asp157Gly	Somatic		Capture	Illumina HiSeq	Phase_I	36576924	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220643	0.58560	.	.	ENSG00000180138	ENST00000379800	D	0.93019	-3.15	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	H	0.98738	4.315	0.48236	D	0.999611	D	0.89917	1.0	D	0.97110	1.0	D	0.95179	0.8297	10	0.87932	D	0	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	157	Q8N752	KC1AL_HUMAN	G	157	ENSP00000369126:D157G	ENSP00000369126:D157G	D	-	2	0	CSNK1A1L	36576924	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	GAT		0.418	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
CSNK1A1L	122011	broad.mit.edu	37	13	37679040	37679040	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37679040G>A	ENST00000379800.3	-	1	763	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D118D(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGATCATCTGGTCGGCTAACA	0.423																																					p.D118D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	13						.						161.0	149.0	153.0					13																	37679040		2203	4300	6503	36577040	SO:0001819	synonymous_variant	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.354C>T	13.37:g.37679040G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36577040	NM_145203	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.423	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
CSNK1A1L	122011	broad.mit.edu	37	13	37679379	37679379	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37679379G>A	ENST00000379800.3	-	1	424	c.15C>T	c.(13-15)agC>agT	p.S5S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	5			S -> G (in dbSNP:rs56224973). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S5S(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTTGGAGCCGCTGTTGTTTG	0.607																																					p.S5S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15T	13						.						76.0	73.0	74.0					13																	37679379		2203	4300	6503	36577379	SO:0001819	synonymous_variant	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.15C>T	13.37:g.37679379G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36577379	NM_145203	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.607	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
TRPC4	7223	broad.mit.edu	37	13	38229288	38229288	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:38229288G>T	ENST00000379705.3	-	7	2678	c.1821C>A	c.(1819-1821)atC>atA	p.I607I	TRPC4_ENST00000355779.2_Silent_p.I607I|TRPC4_ENST00000358477.2_Silent_p.I607I|TRPC4_ENST00000379681.3_Silent_p.I607I|TRPC4_ENST00000379673.2_Silent_p.I607I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Silent_p.I434I|TRPC4_ENST00000447043.1_Silent_p.I607I|TRPC4_ENST00000338947.5_Silent_p.I434I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	607					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I607I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAACCAGAGAGATGACATTGT	0.353																																					p.I607I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1821A	13						.						111.0	98.0	102.0					13																	38229288		2203	4300	6503	37127288	SO:0001819	synonymous_variant	7223	exon7			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1821C>A	13.37:g.38229288G>T		Somatic		Capture	Illumina HiSeq	Phase_I	37127288	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.353	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38237775	38237775	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:38237775G>T	ENST00000379705.3	-	6	2323	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.S489Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S489Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S489Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S489Y|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.S316Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S489Y|TRPC4_ENST00000338947.5_Missense_Mutation_p.S316Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	489					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S489Y(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGACGCAGAGAACTGAAGAT	0.438																																					p.S489Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1466A	13						.						77.0	76.0	77.0					13																	38237775		2203	4300	6503	37135775	SO:0001583	missense	7223	exon6			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1466C>A	13.37:g.38237775G>T	ENSP00000369027:p.Ser489Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37135775	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909159	0.92107	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	L	0.48174	1.505	0.80722	D	1	P;D;D;D;P;P	0.69078	0.948;0.975;0.997;0.991;0.906;0.886	P;P;D;D;P;P	0.80764	0.586;0.861;0.994;0.965;0.747;0.878	D	0.95812	0.8842	10	0.07030	T	0.85	-18.1914	20.6634	0.99662	0.0:0.0:1.0:0.0	.	489;489;489;316;489;489	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	489;489;316;316;489;489;489;489	ENSP00000369027:S489Y;ENSP00000369003:S489Y;ENSP00000342580:S316Y;ENSP00000369001:S316Y;ENSP00000348025:S489Y;ENSP00000351264:S489Y;ENSP00000368995:S489Y;ENSP00000414316:S489Y	ENSP00000342580:S316Y	S	-	2	0	TRPC4	37135775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.894000	0.99253	0.655000	0.94253	TCT		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38266442	38266442	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:38266442G>T	ENST00000379705.3	-	4	1785	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TRPC4_ENST00000355779.2_Missense_Mutation_p.L310M|TRPC4_ENST00000358477.2_Missense_Mutation_p.L310M|TRPC4_ENST00000379681.3_Missense_Mutation_p.L310M|TRPC4_ENST00000379673.2_Missense_Mutation_p.L310M|TRPC4_ENST00000426868.2_Missense_Mutation_p.L310M|TRPC4_ENST00000379679.1_Missense_Mutation_p.L137M|TRPC4_ENST00000447043.1_Missense_Mutation_p.L310M|TRPC4_ENST00000338947.5_Missense_Mutation_p.L137M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	310					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L310M(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CGAGATGCCAGCAGCTGTTGA	0.443																																					p.L310M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C928A	13						.						65.0	52.0	57.0					13																	38266442		2203	4300	6503	37164442	SO:0001583	missense	7223	exon4			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.928C>A	13.37:g.38266442G>T	ENSP00000369027:p.Leu310Met	Somatic		Capture	Illumina HiSeq	Phase_I	37164442	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519157	0.64634	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	M	0.87180	2.865	0.50039	D	0.999844	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.992;0.997;0.997;0.996;0.997;0.992	D	0.90348	0.4364	10	0.87932	D	0	-15.2341	18.9249	0.92540	0.0:0.0:1.0:0.0	.	310;310;310;137;310;310	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	M	310;310;137;137;310;310;310;310;310	ENSP00000369027:L310M;ENSP00000369003:L310M;ENSP00000342580:L137M;ENSP00000369001:L137M;ENSP00000410133:L310M;ENSP00000348025:L310M;ENSP00000351264:L310M;ENSP00000368995:L310M;ENSP00000414316:L310M	ENSP00000342580:L137M	L	-	1	2	TRPC4	37164442	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.166000	0.64965	2.530000	0.85305	0.467000	0.42956	CTG		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39265305	39265305	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39265305A>G	ENST00000280481.7	+	1	4040	c.3824A>G	c.(3823-3825)gAc>gGc	p.D1275G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1275					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1275G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCCAGGAAGACAGTTTTGTG	0.433																																					p.D1275G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3824G	13						.						191.0	187.0	188.0					13																	39265305		2203	4300	6503	38163305	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3824A>G	13.37:g.39265305A>G	ENSP00000280481:p.Asp1275Gly	Somatic		Capture	Illumina HiSeq	Phase_I	38163305	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058993	0.55325	.	.	ENSG00000150893	ENST00000280481	T	0.49139	0.79	6.01	6.01	0.97437	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87516	0.2443	10	0.87932	D	0	.	16.5237	0.84324	1.0:0.0:0.0:0.0	.	1275	Q5SZK8	FREM2_HUMAN	G	1275	ENSP00000280481:D1275G	ENSP00000280481:D1275G	D	+	2	0	FREM2	38163305	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	9.335000	0.96500	2.306000	0.77630	0.533000	0.62120	GAC		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	broad.mit.edu	37	13	39450512	39450512	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39450512T>C	ENST00000280481.7	+	20	8753	c.8537T>C	c.(8536-8538)tTc>tCc	p.F2846S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2846					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2846S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACATCCGATTCCAACAGGTG	0.433																																					p.F2846S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8537C	13						.						109.0	91.0	97.0					13																	39450512		2203	4300	6503	38348512	SO:0001583	missense	341640	exon20			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8537T>C	13.37:g.39450512T>C	ENSP00000280481:p.Phe2846Ser	Somatic		Capture	Illumina HiSeq	Phase_I	38348512	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691143	0.88735	.	.	ENSG00000150893	ENST00000280481	T	0.65549	-0.16	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.85029	0.0916	10	0.87932	D	0	.	15.9477	0.79806	0.0:0.0:0.0:1.0	.	2846	Q5SZK8	FREM2_HUMAN	S	2846	ENSP00000280481:F2846S	ENSP00000280481:F2846S	F	+	2	0	FREM2	38348512	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.967000	0.87967	2.179000	0.69175	0.460000	0.39030	TTC		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
PROSER1	80209	broad.mit.edu	37	13	39587130	39587130	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39587130A>T	ENST00000352251.3	-	11	3092	c.2259T>A	c.(2257-2259)gcT>gcA	p.A753A	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.A731A	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	753	Ser-rich.							p.A753A(1)									CTGGTGCTGAAGCAGAAAGCC	0.532																																					p.A753A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2259A	13						.						143.0	150.0	147.0					13																	39587130		2203	4300	6503	38485130	SO:0001819	synonymous_variant	80209	exon11			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2259T>A	13.37:g.39587130A>T		Somatic		Capture	Illumina HiSeq	Phase_I	38485130	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																				0.532	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
PROSER1	80209	broad.mit.edu	37	13	39587469	39587469	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39587469G>A	ENST00000352251.3	-	11	2753	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.G618G	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	640	Ser-rich.							p.G640G(1)									TATATGCACGGCCCAATGTCC	0.478																																					p.G640G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1920T	13						.						144.0	140.0	141.0					13																	39587469		2203	4300	6503	38485469	SO:0001819	synonymous_variant	80209	exon11			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1920C>T	13.37:g.39587469G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38485469	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																				0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
PROSER1	80209	broad.mit.edu	37	13	39600481	39600481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39600481G>A	ENST00000352251.3	-	6	1246	c.413C>T	c.(412-414)tCt>tTt	p.S138F	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Missense_Mutation_p.S116F	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	138								p.S138F(1)									TGTTCCACAAGAAGATATCAT	0.388																																					p.S138F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	13						.						126.0	131.0	130.0					13																	39600481		2203	4300	6503	38498481	SO:0001583	missense	80209	exon6			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.413C>T	13.37:g.39600481G>A	ENSP00000332034:p.Ser138Phe	Somatic		Capture	Illumina HiSeq	Phase_I	38498481	NM_025138	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604558	0.87157	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678	T;T	0.37584	1.19;1.19	5.74	5.74	0.90152	.	.	.	.	.	T	0.46946	0.1419	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29882	-0.9997	8	.	.	.	-23.421	17.4265	0.87527	0.0:0.0:1.0:0.0	.	116;138	A6NJ97;Q86XN7	.;PRSR1_HUMAN	F	138;116;117	ENSP00000332034:S138F;ENSP00000339123:S116F	.	S	-	2	0	PROSER1	38498481	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.980000	0.76160	2.720000	0.93068	0.650000	0.86243	TCT		0.388	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
NHLRC3	387921	broad.mit.edu	37	13	39616246	39616246	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39616246C>A	ENST00000379600.3	+	4	712	c.390C>A	c.(388-390)ttC>ttA	p.F130L	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	130						extracellular vesicular exosome (GO:0070062)		p.F130L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTATAGGATTCTTTGGTCATA	0.318																																					p.F130L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C390A	13						.						73.0	70.0	71.0					13																	39616246		2203	4300	6503	38514246	SO:0001583	missense	387921	exon4				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.390C>A	13.37:g.39616246C>A	ENSP00000368920:p.Phe130Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38514246	NM_001012754	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	4.267	0.048572	0.08243	.	.	ENSG00000188811	ENST00000379600	T	0.40476	1.03	5.07	-0.346	0.12620	Six-bladed beta-propeller, TolB-like (1);	0.616244	0.17058	N	0.188658	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.09997	-1.0649	9	.	.	.	-0.0195	2.0348	0.03537	0.2409:0.3947:0.2158:0.1486	.	130;130	Q5JS37;B4DRC8	NHLC3_HUMAN;.	L	130	ENSP00000368920:F130L	.	F	+	3	2	NHLRC3	38514246	0.000000	0.05858	0.735000	0.30896	0.370000	0.29829	-0.271000	0.08572	0.131000	0.18576	0.467000	0.42956	TTC		0.318	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754	
KBTBD6	89890	broad.mit.edu	37	13	41704969	41704969	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41704969C>A	ENST00000379485.1	-	1	1913	c.1679G>T	c.(1678-1680)aGa>aTa	p.R560I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R494I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	560								p.R560I(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTTGATAATTCTGTAGTTGTT	0.438																																					p.R560I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1679T	13						.						177.0	171.0	173.0					13																	41704969		2203	4300	6503	40602969	SO:0001583	missense	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1679G>T	13.37:g.41704969C>A	ENSP00000368799:p.Arg560Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40602969	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	4.843	0.156652	0.09236	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66460	-0.21;-0.21	3.8	0.477	0.16784	Kelch-type beta propeller (1);	0.148655	0.44902	D	0.000410	T	0.44074	0.1276	N	0.08118	0	0.39767	D	0.972102	P;P	0.35923	0.528;0.472	B;B	0.40410	0.328;0.189	T	0.34030	-0.9845	10	0.54805	T	0.06	.	6.3696	0.21473	0.0:0.3289:0.0:0.6711	.	494;560	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	560;494	ENSP00000368799:R560I;ENSP00000444326:R494I	ENSP00000368799:R560I	R	-	2	0	KBTBD6	40602969	0.971000	0.33674	0.213000	0.23690	0.086000	0.17979	0.748000	0.26305	0.227000	0.20999	-0.379000	0.06801	AGA		0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
KBTBD6	89890	broad.mit.edu	37	13	41705387	41705387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41705387G>A	ENST00000379485.1	-	1	1495	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R355C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	421								p.R421C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACAGCAAGCGATCTGCAAGT	0.488																																					p.R421C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1261T	13						.						111.0	106.0	108.0					13																	41705387		2203	4298	6501	40603387	SO:0001583	missense	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1261C>T	13.37:g.41705387G>A	ENSP00000368799:p.Arg421Cys	Somatic		Capture	Illumina HiSeq	Phase_I	40603387	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	9.466	1.094318	0.20471	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66460	-0.21;-0.21	3.8	2.92	0.33932	Kelch-type beta propeller (1);	0.126768	0.47852	D	0.000209	T	0.56775	0.2008	L	0.50333	1.59	0.40392	D	0.979555	B;B	0.23377	0.067;0.084	B;B	0.14023	0.01;0.004	T	0.58115	-0.7693	10	0.72032	D	0.01	.	8.6504	0.34031	0.0:0.0:0.585:0.415	.	355;421	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	421;355	ENSP00000368799:R421C;ENSP00000444326:R355C	ENSP00000368799:R421C	R	-	1	0	KBTBD6	40603387	0.987000	0.35691	0.653000	0.29593	0.737000	0.42083	1.329000	0.33770	0.904000	0.36572	0.462000	0.41574	CGC		0.488	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
KBTBD6	89890	broad.mit.edu	37	13	41706511	41706511	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41706511G>T	ENST00000379485.1	-	1	371	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	46								p.S46Y(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGGCTGCAGAATGGGCCGT	0.602																																					p.S46Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137A	13						.						111.0	115.0	114.0					13																	41706511		2203	4300	6503	40604511	SO:0001583	missense	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.137C>A	13.37:g.41706511G>T	ENSP00000368799:p.Ser46Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40604511	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	18.53	3.644554	0.67358	.	.	ENSG00000165572	ENST00000379485	T	0.71817	-0.6	3.65	3.65	0.41850	BTB/POZ fold (2);	0.140827	0.44688	D	0.000429	T	0.65165	0.2665	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	P	0.53450	0.726	T	0.65590	-0.6131	10	0.36615	T	0.2	.	13.2074	0.59805	0.0:0.0:1.0:0.0	.	46	Q86V97	KBTB6_HUMAN	Y	46	ENSP00000368799:S46Y	ENSP00000368799:S46Y	S	-	2	0	KBTBD6	40604511	1.000000	0.71417	0.978000	0.43139	0.889000	0.51656	5.439000	0.66556	2.061000	0.61500	0.313000	0.20887	TCT		0.602	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
NAA16	79612	broad.mit.edu	37	13	41932600	41932600	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41932600A>C	ENST00000379406.3	+	11	1572	c.1248A>C	c.(1246-1248)aaA>aaC	p.K416N	NAA16_ENST00000379367.3_Missense_Mutation_p.K416N|NAA16_ENST00000403412.3_Missense_Mutation_p.K416N	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGAAAGCAAAAATTTACAAGG	0.308																																					p.K416N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1248C	13						.						44.0	47.0	46.0					13																	41932600		2203	4300	6503	40830600	SO:0001583	missense	79612	exon11			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1248A>C	13.37:g.41932600A>C	ENSP00000368716:p.Lys416Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40830600	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190640	0.38707	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.46819	0.86;0.86;0.86	4.82	2.35	0.29111	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.080201	0.50627	D	0.000104	T	0.61223	0.2330	M	0.84326	2.69	0.48696	D	0.999698	B;P	0.49358	0.142;0.923	B;P	0.58266	0.396;0.836	T	0.56854	-0.7910	10	0.33940	T	0.23	-10.37	7.631	0.28238	0.7587:0.0:0.2413:0.0	.	416;416	Q6N069;Q6N069-4	NAA16_HUMAN;.	N	416	ENSP00000368674:K416N;ENSP00000368716:K416N;ENSP00000386103:K416N	ENSP00000368674:K416N	K	+	3	2	NAA16	40830600	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	3.690000	0.54713	0.209000	0.20645	0.397000	0.26171	AAA		0.308	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
NAA16	79612	broad.mit.edu	37	13	41941605	41941605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41941605G>A	ENST00000379406.3	+	14	1894	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	524					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.D524N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGACCAATTCGACTTCCATAC	0.313																																					p.D524N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1570A	13						.						86.0	82.0	84.0					13																	41941605		2203	4300	6503	40839605	SO:0001583	missense	79612	exon14			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1570G>A	13.37:g.41941605G>A	ENSP00000368716:p.Asp524Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40839605	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225036	0.95173	.	.	ENSG00000172766	ENST00000379406	T	0.73152	-0.72	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.88599	0.6480	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90902	0.4769	10	0.56958	D	0.05	-13.1499	18.8903	0.92397	0.0:0.0:1.0:0.0	.	524	Q6N069	NAA16_HUMAN	N	524	ENSP00000368716:D524N	ENSP00000368716:D524N	D	+	1	0	NAA16	40839605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.236000	0.95360	2.464000	0.83262	0.585000	0.79938	GAC		0.313	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
VWA8	23078	broad.mit.edu	37	13	42189137	42189137	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:42189137G>A	ENST00000379310.3	-	38	4763	c.4695C>T	c.(4693-4695)ggC>ggT	p.G1565G		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1565						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1565G(1)									AAGTGTTGCCGCCCACGTGAG	0.537																																					p.G1565G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4695T	13						.						124.0	132.0	130.0					13																	42189137		2025	4193	6218	41087137	SO:0001819	synonymous_variant	23078	exon38			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4695C>T	13.37:g.42189137G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41087137	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.537	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42275627	42275627	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:42275627T>G	ENST00000379310.3	-	28	3333	c.3265A>C	c.(3265-3267)Aga>Cga	p.R1089R		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1089						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1089R(1)									TCTTCATGTCTTTCTATTGGA	0.338																																					p.R1089R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3265C	13						.						158.0	142.0	147.0					13																	42275627		1808	4073	5881	41173627	SO:0001819	synonymous_variant	23078	exon28			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3265A>C	13.37:g.42275627T>G		Somatic		Capture	Illumina HiSeq	Phase_I	41173627	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.338	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42301426	42301426	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:42301426C>T	ENST00000379310.3	-	24	2730	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	VWA8_ENST00000281496.6_Missense_Mutation_p.E888K	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	888						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E888K(1)									ACAACATTTTCTCTTCCATTC	0.294																																					p.E888K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2662A	13						.						62.0	55.0	57.0					13																	42301426		2163	4226	6389	41199426	SO:0001583	missense	23078	exon24			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2662G>A	13.37:g.42301426C>T	ENSP00000368612:p.Glu888Lys	Somatic		Capture	Illumina HiSeq	Phase_I	41199426	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344881	0.61073	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.54279	0.58;0.58	5.68	5.68	0.88126	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.200928	0.45606	D	0.000358	T	0.41926	0.1180	N	0.16201	0.385	0.50632	D	0.999884	P	0.41188	0.741	P	0.44921	0.464	T	0.19289	-1.0310	10	0.11485	T	0.65	.	17.9644	0.89096	0.0:1.0:0.0:0.0	.	888	A3KMH1	K0564_HUMAN	K	792;888;888	ENSP00000368612:E888K;ENSP00000281496:E888K	ENSP00000251030:E792K	E	-	1	0	KIAA0564	41199426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.249000	0.51437	2.664000	0.90586	0.650000	0.86243	GAA		0.294	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
AKAP11	11215	broad.mit.edu	37	13	42877824	42877824	+	Missense_Mutation	SNP	G	G	A	rs147330536		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:42877824G>A	ENST00000025301.2	+	8	5117	c.4942G>A	c.(4942-4944)Gca>Aca	p.A1648T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1648					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.A1648T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGATAAGAAGGCAGTGCTTGC	0.468																																					p.A1648T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4942A	13						.						54.0	55.0	55.0					13																	42877824		2203	4300	6503	41775824	SO:0001583	missense	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4942G>A	13.37:g.42877824G>A	ENSP00000025301:p.Ala1648Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41775824	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	1.782	-0.481607	0.04383	.	.	ENSG00000023516	ENST00000025301	T	0.46451	0.87	5.57	-3.52	0.04682	.	0.637846	0.15832	N	0.242452	T	0.11665	0.0284	N	0.02315	-0.6	0.09310	N	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.32903	-0.9889	10	0.07030	T	0.85	.	6.019	0.19618	0.3702:0.0:0.4154:0.2145	.	1648	Q9UKA4	AKA11_HUMAN	T	1648	ENSP00000025301:A1648T	ENSP00000025301:A1648T	A	+	1	0	AKAP11	41775824	0.613000	0.27009	0.835000	0.33067	0.975000	0.68041	0.646000	0.24797	-0.489000	0.06716	-0.302000	0.09304	GCA		0.468	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
LACC1	144811	broad.mit.edu	37	13	44464275	44464275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:44464275C>T	ENST00000441843.1	+	6	1644	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	LACC1_ENST00000325686.6_Missense_Mutation_p.L387F	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	387								p.L387F(1)									GGGAGGAATTCTTCCACAGAA	0.378																																					p.L387F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159T	13						.						106.0	99.0	102.0					13																	44464275		2203	4300	6503	43362275	SO:0001583	missense	144811	exon6			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1159C>T	13.37:g.44464275C>T	ENSP00000391747:p.Leu387Phe	Somatic		Capture	Illumina HiSeq	Phase_I	43362275	NM_001128303	A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294787	0.81025	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	.	0.061020	0.64402	D	0.000002	T	0.71350	0.3329	M	0.86864	2.845	0.50171	D	0.999852	D	0.89917	1.0	D	0.76071	0.987	T	0.72757	-0.4197	10	0.56958	D	0.05	-40.8348	19.8676	0.96824	0.0:1.0:0.0:0.0	.	387	Q8IV20	LACC1_HUMAN	F	387	ENSP00000391747:L387F;ENSP00000317619:L387F	ENSP00000317619:L387F	L	+	1	0	LACC1	43362275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.070000	0.64376	2.941000	0.99782	0.655000	0.94253	CTT		0.378	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218	
TSC22D1	8848	broad.mit.edu	37	13	45010694	45010694	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:45010694G>T	ENST00000458659.2	-	2	3403				TSC22D1_ENST00000261489.2_Missense_Mutation_p.S24Y|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S24Y(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGACAAGAAAGAAATTGAAAA	0.408																																					p.S24Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71A	13						.						159.0	175.0	170.0					13																	45010694		2203	4300	6503	43908694	SO:0001627	intron_variant	8848	exon1			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2913-463C>A	13.37:g.45010694G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43908694	NM_006022	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376112	0.61735	.	.	ENSG00000102804	ENST00000261489;ENST00000472477	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	T	0.76026	0.3930	L	0.55481	1.735	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.78445	-0.2201	8	0.87932	D	0	.	17.6566	0.88179	0.0:0.0:1.0:0.0	.	24	Q15714-2	.	Y	24	.	ENSP00000261489:S24Y	S	-	2	0	TSC22D1	43908694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.323000	0.96364	2.479000	0.83701	0.591000	0.81541	TCT		0.408	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
TSC22D1	8848	broad.mit.edu	37	13	45148234	45148234	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:45148234C>A	ENST00000458659.2	-	1	2467	c.1977G>T	c.(1975-1977)caG>caT	p.Q659H	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	659	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q659H(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAATTGGCTGCTGTTGTACAT	0.493																																					p.Q659H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1977T	13						.						94.0	90.0	91.0					13																	45148234		2203	4300	6503	44046234	SO:0001583	missense	8848	exon1			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1977G>T	13.37:g.45148234C>A	ENSP00000397435:p.Gln659His	Somatic		Capture	Illumina HiSeq	Phase_I	44046234	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	3.957	-0.011156	0.07727	.	.	ENSG00000102804	ENST00000458659	T	0.32988	1.43	4.74	2.81	0.32909	.	0.723656	0.12415	N	0.470961	T	0.11750	0.0286	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12630	-1.0540	10	0.11182	T	0.66	.	7.0301	0.24962	0.3493:0.517:0.1336:0.0	.	659	Q15714	T22D1_HUMAN	H	659	ENSP00000397435:Q659H	ENSP00000397435:Q659H	Q	-	3	2	TSC22D1	44046234	0.816000	0.29132	0.881000	0.34555	0.954000	0.61252	-0.114000	0.10757	1.209000	0.43321	0.491000	0.48974	CAG		0.493	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
NUFIP1	26747	broad.mit.edu	37	13	45515420	45515420	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:45515420A>C	ENST00000379161.4	-	10	1455	c.1409T>G	c.(1408-1410)aTt>aGt	p.I470S		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	470					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.I470S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACACTGCAAAATCACATTTCT	0.333																																					p.I470S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1409G	13						.						78.0	72.0	74.0					13																	45515420		2203	4300	6503	44413420	SO:0001583	missense	26747	exon10			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1409T>G	13.37:g.45515420A>C	ENSP00000368459:p.Ile470Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44413420	NM_012345	Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049871	0.75846	.	.	ENSG00000083635	ENST00000379161	T	0.58506	0.33	5.37	5.37	0.77165	.	0.110634	0.64402	D	0.000006	T	0.71821	0.3385	M	0.69358	2.11	0.42193	D	0.991732	D	0.76494	0.999	D	0.69307	0.963	T	0.75548	-0.3279	10	0.87932	D	0	.	12.0471	0.53485	1.0:0.0:0.0:0.0	.	470	Q9UHK0	NUFP1_HUMAN	S	470	ENSP00000368459:I470S	ENSP00000368459:I470S	I	-	2	0	NUFIP1	44413420	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.842000	0.69417	2.159000	0.67721	0.467000	0.42956	ATT		0.333	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345	
SLC25A30	253512	broad.mit.edu	37	13	45973114	45973114	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:45973114T>C	ENST00000539591.1	-	7	724	c.561A>G	c.(559-561)agA>agG	p.R187R				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	238					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.R238R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGCCAGAACATCTGCCATCTC	0.473																																					p.R238R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A714G	13						.						133.0	109.0	117.0					13																	45973114		2203	4300	6503	44871114	SO:0001819	synonymous_variant	253512	exon8			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.561A>G	13.37:g.45973114T>C		Somatic		Capture	Illumina HiSeq	Phase_I	44871114	NM_001010875	B2RN96|B4DZK3|F5H8H8	Silent	SNP	ENST00000539591.1	37																																																																																					0.473	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736	
ZC3H13	23091	broad.mit.edu	37	13	46541927	46541927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:46541927G>A	ENST00000242848.4	-	15	4381	c.4033C>T	c.(4033-4035)Cga>Tga	p.R1345*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1345*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R301*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1345							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1345*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctctctctcgttctcgttct	0.483																																					p.R1345X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4033T	13						.						284.0	197.0	227.0					13																	46541927		2203	4300	6503	45439928	SO:0001587	stop_gained	23091	exon15			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4033C>T	13.37:g.46541927G>A	ENSP00000242848:p.Arg1345*	Somatic		Capture	Illumina HiSeq	Phase_I	45439928	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	43	10.240821	0.99366	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	0.235	0.235	0.15431	.	0.000000	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	1345;301;1345	.	ENSP00000242848:R1345X	R	-	1	2	ZC3H13	45439928	0.211000	0.23529	0.945000	0.38365	0.910000	0.53928	0.562000	0.23531	0.308000	0.22923	0.313000	0.20887	CGA		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
CPB2	1361	broad.mit.edu	37	13	46629917	46629917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:46629917C>T	ENST00000181383.4	-	10	1083	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.G319D|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	356					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G356D(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TGAGCCATGGCCATGTGTATA	0.338																																					p.G319D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956A	13						.						108.0	107.0	107.0					13																	46629917		2203	4299	6502	45527918	SO:0001583	missense	1361	exon9			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1067G>A	13.37:g.46629917C>T	ENSP00000181383:p.Gly356Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45527918	NM_016413	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165823	0.78339	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.14893	2.47;2.47	5.34	5.34	0.76211	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72564	-0.4255	10	0.87932	D	0	.	17.5984	0.88018	0.0:1.0:0.0:0.0	.	319;356	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	D	356;319	ENSP00000181383:G356D;ENSP00000400714:G319D	ENSP00000181383:G356D	G	-	2	0	CPB2	45527918	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.248000	0.65421	2.496000	0.84212	0.561000	0.74099	GGC		0.338	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872	
KIAA0226L	80183	broad.mit.edu	37	13	46942869	46942869	+	Splice_Site	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:46942869T>A	ENST00000429979.1	-	4	1221	c.617A>T	c.(616-618)aAg>aTg	p.K206M	KIAA0226L_ENST00000378781.3_Splice_Site_p.K206M|KIAA0226L_ENST00000322896.6_Splice_Site_p.K49M|KIAA0226L_ENST00000378787.3_Splice_Site_p.K206M|KIAA0226L_ENST00000389908.3_Splice_Site_p.K206M|KIAA0226L_ENST00000534925.1_Splice_Site_p.K71M|KIAA0226L_ENST00000409879.2_Splice_Site_p.K49M|KIAA0226L_ENST00000378797.2_Splice_Site_p.K206M|KIAA0226L_ENST00000378784.4_Splice_Site_p.K139M	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	206								p.K206M(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGCATTCACCTTTTCTACATC	0.353																																					p.K206M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A617T	13						.						129.0	131.0	130.0					13																	46942869		2203	4300	6503	45840870	SO:0001630	splice_region_variant	80183	exon4			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.618+1A>T	13.37:g.46942869T>A		Somatic		Capture	Illumina HiSeq	Phase_I	45840870	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795112	0.50208	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925;ENST00000417405	T;T;T;T;T;T;T;T	0.56611	0.53;0.48;0.45;0.49;0.48;0.45;0.49;0.54	6.04	4.8	0.61643	.	0.073872	0.56097	D	0.000021	T	0.63768	0.2539	L	0.54323	1.7	0.58432	D	0.999999	D;P;D;P;D;D;D	0.71674	0.998;0.908;0.998;0.78;0.966;0.98;0.99	D;B;D;B;B;P;P	0.68039	0.955;0.256;0.911;0.123;0.277;0.606;0.741	T	0.65030	-0.6267	10	0.56958	D	0.05	-19.3342	10.2811	0.43541	0.1469:0.0:0.0:0.8531	.	206;49;206;49;206;139;206	E7EMA2;B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;.;K226L_HUMAN;.;.	M	206;206;206;139;206;206;49;49;71;71	ENSP00000368057:K206M;ENSP00000396935:K206M;ENSP00000368074:K206M;ENSP00000368061:K139M;ENSP00000374558:K206M;ENSP00000368064:K206M;ENSP00000437501:K71M;ENSP00000402357:K71M	ENSP00000315633:K49M	K	-	2	0	KIAA0226L	45840870	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.736000	0.47385	2.317000	0.78254	0.459000	0.35465	AAG		0.353	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	Missense_Mutation
LRCH1	23143	broad.mit.edu	37	13	47273477	47273477	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:47273477G>A	ENST00000389798.3	+	10	1449	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A418T|LRCH1_ENST00000311191.6_Missense_Mutation_p.A418T	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	418								p.A418T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAGGCAAGGGCAGAAGACTG	0.498																																					p.A418T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	13						.						153.0	122.0	133.0					13																	47273477		2203	4300	6503	46171478	SO:0001583	missense	23143	exon10			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1252G>A	13.37:g.47273477G>A	ENSP00000374448:p.Ala418Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46171478	NM_001164211	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848117	0.02651	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.53857	0.6;0.65;0.61	5.5	-9.28	0.00656	.	0.848259	0.10721	N	0.641732	T	0.26557	0.0649	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.15930	0.001;0.015;0.001;0.005	B;B;B;B	0.13407	0.001;0.009;0.003;0.004	T	0.28808	-1.0032	10	0.14252	T	0.57	3.7854	13.7177	0.62708	0.7185:0.0854:0.1962:0.0	.	418;418;418;418	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	T	418	ENSP00000308493:A418T;ENSP00000374448:A418T;ENSP00000374447:A418T	ENSP00000308493:A418T	A	+	1	0	LRCH1	46171478	0.011000	0.17503	0.000000	0.03702	0.030000	0.12068	-0.101000	0.10973	-2.613000	0.00444	-2.069000	0.00389	GCA		0.498	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	
HTR2A	3356	broad.mit.edu	37	13	47409304	47409304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:47409304G>A	ENST00000378688.4	-	3	1215	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	HTR2A_ENST00000543956.1_Missense_Mutation_p.L278F|HTR2A_ENST00000542664.1_Missense_Mutation_p.L362F			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	362					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L362F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AACACATTGAGCAGGGCCCCA	0.463																																					p.L278F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	13						.						112.0	104.0	106.0					13																	47409304		2203	4300	6503	46307305	SO:0001583	missense	3356	exon3			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1084C>T	13.37:g.47409304G>A	ENSP00000367959:p.Leu362Phe	Somatic		Capture	Illumina HiSeq	Phase_I	46307305	NM_001165947	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148025	0.57151	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.72282	-0.64;-0.64;-0.64	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.069953	0.64402	D	0.000013	T	0.68439	0.3001	N	0.11313	0.125	0.50813	D	0.999894	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	T	0.61163	-0.7118	10	0.05525	T	0.97	.	19.0935	0.93238	0.0:0.0:1.0:0.0	.	278;362	F5GWE8;P28223	.;5HT2A_HUMAN	F	362;278;362	ENSP00000367959:L362F;ENSP00000441861:L278F;ENSP00000437737:L362F	ENSP00000367959:L362F	L	-	1	0	HTR2A	46307305	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	5.646000	0.67916	2.827000	0.97445	0.650000	0.86243	CTC		0.463	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
MED4	29079	broad.mit.edu	37	13	48660588	48660588	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:48660588C>T	ENST00000258648.2	-	3	218	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	MED4_ENST00000378586.1_Splice_Site_p.V19I	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	65					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V65I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACTCCAGGACCTGTCAGATA	0.348																																					p.V65I	Pancreas(38;399 1016 9170 13426 20145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	13						.						56.0	53.0	54.0					13																	48660588		2203	4300	6503	47558589	SO:0001630	splice_region_variant	29079	exon3			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.193-1G>A	13.37:g.48660588C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47558589	NM_014166	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246040	0.22796	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.3	4.34	0.51931	.	0.166493	0.51477	N	0.000082	T	0.18467	0.0443	N	0.02802	-0.49	0.45733	D	0.998634	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.05818	-1.0862	9	0.18276	T	0.48	-2.7234	3.2563	0.06832	0.0:0.4163:0.0:0.5837	.	43;65	E9PDW1;Q9NPJ6	.;MED4_HUMAN	I	65;43;19;43	.	ENSP00000258648:V65I	V	-	1	0	MED4	47558589	1.000000	0.71417	0.971000	0.41717	0.624000	0.37722	4.169000	0.58223	1.132000	0.42129	0.305000	0.20034	GTC		0.348	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166	Missense_Mutation
RB1	5925	broad.mit.edu	37	13	48881473	48881473	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:48881473G>T	ENST00000267163.4	+	2	333	c.195G>T	c.(193-195)aaG>aaT	p.K65N		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	65					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.K65N(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAAATTAAAGATACCAGATC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.K65N		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	19	Whole gene deletion(15)|Unknown(3)|Substitution - Missense(1)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|large_intestine(1)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	c.G195T	13	GRCh37	CD931045	RB1	D		.						132.0	135.0	134.0					13																	48881473		2203	4300	6503	47779474	SO:0001583	missense	5925	exon2	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.195G>T	13.37:g.48881473G>T	ENSP00000267163:p.Lys65Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47779474	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240666	0.22711	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91577	-2.87	4.83	2.16	0.27623	.	0.119748	0.64402	D	0.000019	D	0.84000	0.5376	L	0.46157	1.445	0.27708	N	0.945559	P	0.44734	0.842	B	0.40165	0.321	T	0.74160	-0.3755	10	0.23891	T	0.37	.	7.1635	0.25677	0.2876:0.0:0.7124:0.0	.	65	P06400	RB_HUMAN	N	44;65	ENSP00000267163:K65N	ENSP00000267163:K65N	K	+	3	2	RB1	47779474	0.978000	0.34361	0.858000	0.33744	0.979000	0.70002	0.695000	0.25527	0.196000	0.20367	-0.145000	0.13849	AAG		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RB1	5925	broad.mit.edu	37	13	48916843	48916843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:48916843G>T	ENST00000267163.4	+	3	511	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	125					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)|p.E125*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAAAAACATAGAAATCAGGTA	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.E125X		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	21	Whole gene deletion(15)|Unknown(5)|Substitution - Nonsense(1)	bone(10)|breast(6)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.G373T	13						.						69.0	75.0	73.0					13																	48916843		2203	4300	6503	47814844	SO:0001587	stop_gained	5925	exon3	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.373G>T	13.37:g.48916843G>T	ENSP00000267163:p.Glu125*	Somatic		Capture	Illumina HiSeq	Phase_I	47814844	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913506	0.97099	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	5.39	0.77823	.	0.311690	0.36893	N	0.002356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.0115	0.71552	0.0:0.0:1.0:0.0	.	.	.	.	X	104;125	.	ENSP00000267163:E125X	E	+	1	0	RB1	47814844	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.179000	0.50887	2.667000	0.90743	0.603000	0.83216	GAA		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RB1	5925	broad.mit.edu	37	13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	280					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E280*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCTGTAAAGAACATGAATG	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.E280X		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	bone(11)|breast(5)|large_intestine(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.G838T	13	GRCh37	CM025387	RB1	M		.						72.0	79.0	76.0					13																	48937070		2203	4300	6503	47835071	SO:0001587	stop_gained	5925	exon8	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.838G>T	13.37:g.48937070G>T	ENSP00000267163:p.Glu280*	Somatic		Capture	Illumina HiSeq	Phase_I	47835071	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002411	0.93227	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.17	6.17	0.99709	.	0.052818	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5813	0.61905	0.0738:0.0:0.9262:0.0	.	.	.	.	X	259;280	.	.	E	+	1	0	RB1	47835071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.641000	0.61375	2.941000	0.99782	0.655000	0.94253	GAA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RCBTB2	1102	broad.mit.edu	37	13	49089771	49089771	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:49089771A>G	ENST00000344532.3	-	5	572	c.149T>C	c.(148-150)gTc>gCc	p.V50A	RCBTB2_ENST00000430805.2_Missense_Mutation_p.V55A|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000544904.1_Missense_Mutation_p.V26A	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	50					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V50A(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTGCCAAAGACACAAGCCTG	0.363																																					p.V50A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T149C	13						.						81.0	83.0	82.0					13																	49089771		2203	4300	6503	47987772	SO:0001583	missense	1102	exon5			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.149T>C	13.37:g.49089771A>G	ENSP00000345144:p.Val50Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47987772	NM_001268	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923265	0.92319	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	T;T;T	0.66638	-0.22;-0.22;0.69	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	M	0.69185	2.1	0.80722	D	1	P;D;P;D	0.71674	0.877;0.996;0.622;0.998	B;D;B;D	0.66979	0.315;0.948;0.142;0.913	T	0.77117	-0.2706	10	0.32370	T	0.25	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	26;55;54;50	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	A	50;54;55;55;26	ENSP00000345144:V50A;ENSP00000389910:V55A;ENSP00000443904:V26A	ENSP00000345144:V50A	V	-	2	0	RCBTB2	47987772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.317000	0.78254	0.459000	0.35465	GTC		0.363	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	
CAB39L	81617	broad.mit.edu	37	13	49913861	49913861	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:49913861C>A	ENST00000355854.4	-	7	1139	c.642G>T	c.(640-642)gaG>gaT	p.E214D	CAB39L_ENST00000347776.5_Missense_Mutation_p.E214D|CAB39L_ENST00000409308.1_Missense_Mutation_p.E214D|CAB39L_ENST00000410043.1_Missense_Mutation_p.E214D|CAB39L_ENST00000409130.1_Missense_Mutation_p.E70D	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	214					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.E214D(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GAAGCAATTTCTCATAGTCTT	0.338																																					p.E214D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G642T	13						.						44.0	44.0	44.0					13																	49913861		2198	4291	6489	48811862	SO:0001583	missense	81617	exon9			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.642G>T	13.37:g.49913861C>A	ENSP00000348113:p.Glu214Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48811862	NM_001079670	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928723	0.34002	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000409130;ENST00000425242;ENST00000410043	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.43	3.43	0.39272	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	L	0.35288	1.05	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.08249	-1.0731	9	.	.	.	-24.5194	4.2626	0.10747	0.0:0.5595:0.0:0.4405	.	214	Q9H9S4	CB39L_HUMAN	D	214;214;191;214;70;157;214	ENSP00000348113:E214D;ENSP00000261669:E214D;ENSP00000386375:E214D;ENSP00000387245:E70D;ENSP00000416719:E157D;ENSP00000386328:E214D	.	E	-	3	2	CAB39L	48811862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.836000	0.39191	1.303000	0.44873	0.511000	0.50034	GAG		0.338	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925	
SERPINE3	647174	broad.mit.edu	37	13	51918401	51918401	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:51918401A>T	ENST00000521255.1	+	2	330	c.270A>T	c.(268-270)aaA>aaT	p.K90N	SERPINE3_ENST00000524365.1_Missense_Mutation_p.K90N|SERPINE3_ENST00000400389.4_Missense_Mutation_p.K90N	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	90					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K90N(1)		ovary(2)	2						AAAGGGTGAAAGATTTCTTGC	0.488																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A270T	13						.						65.0	66.0	65.0					13																	51918401		2038	4187	6225	50816402	SO:0001583	missense	647174	exon2			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.270A>T	13.37:g.51918401A>T	ENSP00000428316:p.Lys90Asn	Somatic		Capture	Illumina HiSeq	Phase_I	50816402	NM_001101320	B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767963	0.49680	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84223	-1.82;-1.82;-1.82	5.02	0.965	0.19661	Serpin domain (3);	.	.	.	.	T	0.72740	0.3498	L	0.36672	1.1	0.26531	N	0.974259	B;B	0.15141	0.012;0.007	B;B	0.16289	0.015;0.004	T	0.56763	-0.7925	9	0.28530	T	0.3	.	1.344	0.02160	0.5287:0.14:0.1782:0.153	.	90;90	A8MV23-2;A8MV23	.;SERP3_HUMAN	N	90	ENSP00000430755:K90N;ENSP00000428316:K90N;ENSP00000441468:K90N	ENSP00000441468:K90N	K	+	3	2	SERPINE3	50816402	1.000000	0.71417	0.008000	0.14137	0.942000	0.58702	0.981000	0.29526	0.397000	0.25310	0.533000	0.62120	AAA		0.488	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320	
INTS6	26512	broad.mit.edu	37	13	51948481	51948481	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:51948481C>A	ENST00000311234.4	-	15	2439	c.1967G>T	c.(1966-1968)aGa>aTa	p.R656I	INTS6_ENST00000398119.2_Missense_Mutation_p.R643I|INTS6_ENST00000425000.1_Missense_Mutation_p.R224I|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.R340I|INTS6_ENST00000497989.1_Missense_Mutation_p.R478I	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	656					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.R656I(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACACCGACGTCTTTTAGGGAT	0.438																																					p.R656I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1967T	13						.						176.0	170.0	172.0					13																	51948481		2203	4300	6503	50846482	SO:0001583	missense	26512	exon15			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1967G>T	13.37:g.51948481C>A	ENSP00000310260:p.Arg656Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50846482	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342739	0.95783	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	M	0.67397	2.05	0.80722	D	1	D	0.60575	0.988	D	0.63033	0.91	T	0.78615	-0.2135	9	0.87932	D	0	-17.8936	18.9272	0.92550	0.0:1.0:0.0:0.0	.	656	Q9UL03	INT6_HUMAN	I	656;643;478;224;340	.	ENSP00000310260:R656I	R	-	2	0	INTS6	50846482	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.445000	0.80570	2.791000	0.96007	0.591000	0.81541	AGA		0.438	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
WDFY2	115825	broad.mit.edu	37	13	52332419	52332419	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52332419A>G	ENST00000298125.5	+	11	1336	c.1156A>G	c.(1156-1158)Act>Gct	p.T386A		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	386							metal ion binding (GO:0046872)	p.T386A(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACTTCTGGAACTGACAAGGT	0.433																																					p.T386A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1156G	13						.						145.0	122.0	130.0					13																	52332419		2203	4300	6503	51230420	SO:0001583	missense	115825	exon11			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.1156A>G	13.37:g.52332419A>G	ENSP00000298125:p.Thr386Ala	Somatic		Capture	Illumina HiSeq	Phase_I	51230420	NM_052950	B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803389	0.50315	.	.	ENSG00000139668	ENST00000298125	T	0.58060	0.36	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.046258	0.85682	D	0.000000	T	0.49490	0.1560	L	0.56769	1.78	0.58432	D	0.999999	B	0.25351	0.124	B	0.33890	0.172	T	0.44907	-0.9297	10	0.02654	T	1	-10.894	15.1016	0.72284	1.0:0.0:0.0:0.0	.	386	Q96P53	WDFY2_HUMAN	A	386	ENSP00000298125:T386A	ENSP00000298125:T386A	T	+	1	0	WDFY2	51230420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.890000	0.69774	2.164000	0.68074	0.533000	0.62120	ACT		0.433	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950	
DHRS12	79758	broad.mit.edu	37	13	52373793	52373793	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52373793C>T	ENST00000444610.2	-	2	80	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DHRS12_ENST00000218981.1_Start_Codon_SNP_p.M1I|DHRS12_ENST00000280056.2_Start_Codon_SNP_p.M1I|DHRS12_ENST00000490949.1_5'UTR	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	23							oxidoreductase activity (GO:0016491)	p.M1I(4)		cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGCAGATTCATAGCCACTC	0.493																																					p.M1I												.	.	4	Substitution - Missense(4)	urinary_tract(2)|large_intestine(2)	c.G3A	13						.						147.0	143.0	144.0					13																	52373793		2203	4300	6503	51271794	SO:0001583	missense	79758	exon2			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.67G>A	13.37:g.52373793C>T	ENSP00000411565:p.Glu23Lys	Somatic		Capture	Illumina HiSeq	Phase_I	51271794	NM_024705	Q96GB2|Q9H8H1	Missense_Mutation	SNP	ENST00000444610.2	37	CCDS58292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.72|16.72	3.201808|3.201808	0.58234|0.58234	.|.	.|.	ENSG00000102796|ENSG00000102796	ENST00000444610|ENST00000218981;ENST00000280056	D|D;D	0.85339|0.92752	-1.97|-2.5;-3.1	3.72|3.72	2.88|2.88	0.33553|0.33553	.|.	.|0.210259	.|0.47852	.|D	.|0.000219	D|D	0.86364|0.86364	0.5915|0.5915	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|B;B	0.39022|0.24426	0.655|0.103;0.025	B|B;B	0.42495|0.21546	0.389|0.035;0.01	T|T	0.81645|0.81645	-0.0839|-0.0839	8|9	0.05959|0.35671	T|T	0.93|0.21	.|.	9.5347|9.5347	0.39216|0.39216	0.0:0.8933:0.0:0.1067|0.0:0.8933:0.0:0.1067	.|.	23|1;1	A0PJE2|A0PJE2-3;A0PJE2-2	DHR12_HUMAN|.;.	K|I	23|1	ENSP00000411565:E23K|ENSP00000218981:M1I;ENSP00000280056:M1I	ENSP00000411565:E23K|ENSP00000218981:M1I	E|M	-|-	1|3	0|0	DHRS12|DHRS12	51271794|51271794	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.554000|0.554000	0.35429|0.35429	4.322000|4.322000	0.59215|0.59215	1.161000|1.161000	0.42604|0.42604	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.493	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705	
ATP7B	540	broad.mit.edu	37	13	52508983	52508983	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52508983T>C	ENST00000242839.4	-	21	4463	c.4307A>G	c.(4306-4308)gAc>gGc	p.D1436G	ATP7B_ENST00000418097.2_Missense_Mutation_p.D1371G|ATP7B_ENST00000400370.3_Missense_Mutation_p.D1006G|ATP7B_ENST00000448424.2_Missense_Mutation_p.D1358G|ATP7B_ENST00000344297.5_Missense_Mutation_p.D1229G|ATP7B_ENST00000417240.2_Missense_Mutation_p.D647G|ATP7B_ENST00000400366.3_Missense_Mutation_p.D1325G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1436					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.D1436G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGATGGCTTGTCGGACGTCAG	0.597									Wilson disease																												p.D1436G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4307G	13						.						91.0	94.0	93.0					13																	52508983		2179	4279	6458	51406984	SO:0001583	missense	540	exon21	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4307A>G	13.37:g.52508983T>C	ENSP00000242839:p.Asp1436Gly	Somatic		Capture	Illumina HiSeq	Phase_I	51406984	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681157	0.29872	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.93	5.93	0.95920	.	0.227944	0.39475	N	0.001352	T	0.78748	0.4332	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B;D;B;B	0.58970	0.101;0.026;0.021;0.109;0.021;0.984;0.021;0.394	B;B;B;B;B;P;B;B	0.59171	0.038;0.013;0.021;0.053;0.021;0.853;0.021;0.109	T	0.79990	-0.1570	10	0.59425	D	0.04	-21.3438	11.4213	0.49982	0.0:0.0698:0.0:0.9302	.	1358;1388;1371;647;1006;1325;1229;1436	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	G	1436;1325;1229;647;1358;1006;1371	ENSP00000242839:D1436G;ENSP00000383217:D1325G;ENSP00000342559:D1229G;ENSP00000390360:D647G;ENSP00000416738:D1358G;ENSP00000383221:D1006G;ENSP00000393343:D1371G	ENSP00000242839:D1436G	D	-	2	0	ATP7B	51406984	1.000000	0.71417	0.859000	0.33776	0.014000	0.08584	4.522000	0.60539	2.271000	0.75665	0.533000	0.62120	GAC		0.597	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
ALG11	440138	broad.mit.edu	37	13	52598489	52598489	+	Missense_Mutation	SNP	C	C	A	rs387907180		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52598489C>A	ENST00000521508.1	+	3	628	c.623C>A	c.(622-624)tCt>tAt	p.S208Y	UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	208					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.S208Y(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GACATGCTCTCTGTAGTGAAG	0.378																																					p.S208Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623A	13						.						122.0	121.0	121.0					13																	52598489		2203	4300	6503	51496490	SO:0001583	missense	9724	exon3			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.623C>A	13.37:g.52598489C>A	ENSP00000430236:p.Ser208Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51496490	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602283	0.87055	.	.	ENSG00000253710	ENST00000521508	T	0.78707	-1.2	6.16	6.16	0.99307	.	0.063315	0.64402	U	0.000004	D	0.89308	0.6678	M	0.83953	2.67	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.89142	0.3517	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	208	Q2TAA5	ALG11_HUMAN	Y	208	ENSP00000430236:S208Y	ENSP00000430236:S208Y	S	+	2	0	ALG11	51496490	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	5.591000	0.67536	2.937000	0.99478	0.650000	0.86243	TCT		0.378	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
ALG11	440138	broad.mit.edu	37	13	52598792	52598792	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52598792T>G	ENST00000521508.1	+	3	931	c.926T>G	c.(925-927)tTt>tGt	p.F309C	UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	309					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.F309C(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTTGGCCAGTTTAGGCCGGAA	0.423																																					p.F309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T926G	13						.						79.0	75.0	76.0					13																	52598792		2203	4300	6503	51496793	SO:0001583	missense	9724	exon3			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.926T>G	13.37:g.52598792T>G	ENSP00000430236:p.Phe309Cys	Somatic		Capture	Illumina HiSeq	Phase_I	51496793	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362162	0.61403	.	.	ENSG00000253710	ENST00000521508	T	0.79352	-1.26	6.16	4.97	0.65823	Glycosyl transferase, family 1 (1);	0.000000	0.85682	U	0.000000	D	0.91768	0.7396	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93718	0.7030	10	0.87932	D	0	.	13.7045	0.62629	0.0:0.0:0.1286:0.8713	.	309	Q2TAA5	ALG11_HUMAN	C	309	ENSP00000430236:F309C	ENSP00000430236:F309C	F	+	2	0	ALG11	51496793	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.647000	0.83462	1.129000	0.42072	-0.323000	0.08544	TTT		0.423	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
ALG11	440138	broad.mit.edu	37	13	52599066	52599066	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52599066T>C	ENST00000521508.1	+	3	1205	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	400					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.F400F(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ACGAGCATTTTGGGATTGGTG	0.323																																					p.F400F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1200C	13						.						84.0	85.0	85.0					13																	52599066		2199	4299	6498	51497067	SO:0001819	synonymous_variant	9724	exon3			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1200T>C	13.37:g.52599066T>C		Somatic		Capture	Illumina HiSeq	Phase_I	51497067	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	CCDS31977.1																																																																																				0.323	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
UTP14C	9724	broad.mit.edu	37	13	52604526	52604526	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52604526C>A	ENST00000521776.2	+	2	2319	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	529					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.P529H(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CTTCCCAGACCTGTGTTAGAA	0.463																																					p.P529H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1586A	13						.						116.0	126.0	123.0					13																	52604526		2203	4300	6503	51502527	SO:0001583	missense	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1586C>A	13.37:g.52604526C>A	ENSP00000428619:p.Pro529His	Somatic		Capture	Illumina HiSeq	Phase_I	51502527	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857127	0.32791	.	.	ENSG00000253797	ENST00000521776	T	0.17054	2.3	2.91	2.04	0.26737	.	0.314235	0.39407	N	0.001375	T	0.39886	0.1095	M	0.86573	2.825	0.09310	N	1	D	0.71674	0.998	D	0.69307	0.963	T	0.14671	-1.0464	9	.	.	.	-0.1308	7.2138	0.25949	0.2652:0.7348:0.0:0.0	.	529	Q5TAP6	UT14C_HUMAN	H	529	ENSP00000428619:P529H	.	P	+	2	0	UTP14C	51502527	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	0.273000	0.18662	0.547000	0.28938	-0.475000	0.04921	CCT		0.463	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
NEK5	341676	broad.mit.edu	37	13	52667336	52667336	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52667336G>A	ENST00000355568.4	-	13	1201	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	354					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V354V(1)|p.V411V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AATGTCCACAGACAGCAGCAA	0.398																																					p.V354V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1062T	13						.						121.0	114.0	116.0					13																	52667336		2203	4300	6503	51565337	SO:0001819	synonymous_variant	341676	exon13			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1062C>T	13.37:g.52667336G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51565337	NM_199289	Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.398	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
NEK3	4752	broad.mit.edu	37	13	52707353	52707353	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52707353C>A	ENST00000400357.2	-	14	2688	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	NEK3_ENST00000452082.2_Missense_Mutation_p.E486D|NEK3_ENST00000339406.3_Missense_Mutation_p.E482D|NEK3_ENST00000378101.2_Missense_Mutation_p.E482D			P51956	NEK3_HUMAN	NIMA-related kinase 3	482					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E482D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATCTTCCTCCTCAAAGTCCC	0.468																																					p.E465D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1395T	13						.						54.0	51.0	52.0					13																	52707353		2001	4185	6186	51605354	SO:0001583	missense	4752	exon15			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1395G>T	13.37:g.52707353C>A	ENSP00000383210:p.Glu465Asp	Somatic		Capture	Illumina HiSeq	Phase_I	51605354	NM_001146099	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.281118	0.40394	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.38	4.29	0.51040	.	0.000000	0.64402	D	0.000007	T	0.53738	0.1815	M	0.71581	2.175	0.37023	D	0.896285	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.58306	-0.7659	10	0.45353	T	0.12	.	8.1582	0.31183	0.0:0.8142:0.0:0.1858	.	482;486;459	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	D	482;482;465;486;459	ENSP00000339429:E482D;ENSP00000367341:E482D;ENSP00000383210:E465D;ENSP00000404197:E486D;ENSP00000448716:E459D	ENSP00000339429:E482D	E	-	3	2	NEK3	51605354	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	0.943000	0.29030	2.665000	0.90641	0.563000	0.77884	GAG		0.468	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
HNRNPA1L2	144983	broad.mit.edu	37	13	53217402	53217402	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:53217402A>C	ENST00000357495.2	+	1	835	c.775A>C	c.(775-777)Agc>Cgc	p.S259R	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.S259R|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.S259R			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	259	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S259R(1)		cervix(1)|large_intestine(1)|lung(5)	7						aggtggtggAAGCTACAATGA	0.483																																					p.S259R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A775C	13						.						19.0	22.0	21.0					13																	53217402		1697	3196	4893	52115403	SO:0001583	missense	144983	exon6				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.775A>C	13.37:g.53217402A>C	ENSP00000350090:p.Ser259Arg	Somatic		Capture	Illumina HiSeq	Phase_I	52115403	NM_001011725	Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	a	8.757	0.922563	0.18056	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.87256	-2.23;-2.23;-2.23	0.352	0.352	0.16051	.	.	.	.	.	D	0.82719	0.5098	M	0.74881	2.28	0.21499	N	0.99967	B	0.25272	0.122	B	0.19391	0.025	T	0.72587	-0.4248	9	0.52906	T	0.07	.	2.6919	0.05123	0.6:0.0:0.4:0.0	.	259	Q32P51	RA1L2_HUMAN	R	259	ENSP00000341285:S259R;ENSP00000381119:S259R;ENSP00000350090:S259R	ENSP00000341285:S259R	S	+	1	0	HNRNPA1L2	52115403	0.398000	0.25279	0.917000	0.36280	0.301000	0.27625	2.642000	0.46596	0.382000	0.24878	0.076000	0.15429	AGC		0.483	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724	
PCDH17	27253	broad.mit.edu	37	13	58208209	58208209	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:58208209C>A	ENST00000377918.3	+	1	1555	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	510	Cadherin 5. {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)	p.S510Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTATCCTACTCTATCCTGCCC	0.587																																					p.S510Y	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1529A	13						.						47.0	45.0	46.0					13																	58208209		2203	4300	6503	57106210	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1529C>A	13.37:g.58208209C>A	ENSP00000367151:p.Ser510Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57106210	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314928	0.23908	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.79	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.092124	0.85682	D	0.000000	T	0.74543	0.3730	M	0.82716	2.605	0.43467	D	0.995679	D;D	0.76494	0.999;0.999	D;D	0.77557	0.983;0.99	T	0.78145	-0.2318	9	.	.	.	.	16.3301	0.83006	0.1331:0.8669:0.0:0.0	.	510;510	O14917-2;O14917	.;PCD17_HUMAN	Y	510	ENSP00000367151:S510Y	.	S	+	2	0	PCDH17	57106210	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	3.251000	0.51453	1.442000	0.47568	0.561000	0.74099	TCT		0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5. {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)	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592																																					p.S514L	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1541T	13						.						47.0	46.0	46.0					13																	58208221		2203	4300	6503	57106222	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1541C>T	13.37:g.58208221C>T	ENSP00000367151:p.Ser514Leu	Somatic		Capture	Illumina HiSeq	Phase_I	57106222	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553128	0.65425	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.105411	0.64402	D	0.000002	T	0.65893	0.2735	M	0.73430	2.235	0.58432	D	0.999991	D;D	0.69078	0.996;0.997	P;P	0.61397	0.883;0.888	T	0.65768	-0.6088	9	.	.	.	.	15.7959	0.78409	0.0:0.8265:0.1735:0.0	.	514;514	O14917-2;O14917	.;PCD17_HUMAN	L	514	ENSP00000367151:S514L	.	S	+	2	0	PCDH17	57106222	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	5.162000	0.64942	2.740000	0.93945	0.561000	0.74099	TCG		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58298834	58298834	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:58298834T>G	ENST00000377918.3	+	4	2912	c.2886T>G	c.(2884-2886)aaT>aaG	p.N962K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	962					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N962K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGCAGCCAATCAGGCTGAAA	0.448																																					p.N962K	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2886G	13						.						78.0	73.0	75.0					13																	58298834		2203	4300	6503	57196835	SO:0001583	missense	27253	exon4			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2886T>G	13.37:g.58298834T>G	ENSP00000367151:p.Asn962Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57196835	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571258	0.28003	.	.	ENSG00000118946	ENST00000377918	T	0.51071	0.72	6.07	3.58	0.41010	.	0.242163	0.45126	D	0.000396	T	0.33206	0.0855	L	0.34521	1.04	0.43088	D	0.994751	B	0.18013	0.025	B	0.18263	0.021	T	0.09574	-1.0668	9	.	.	.	.	9.4131	0.38505	0.0:0.3015:0.0:0.6985	.	962	O14917	PCD17_HUMAN	K	962	ENSP00000367151:N962K	.	N	+	3	2	PCDH17	57196835	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.857000	0.27831	1.082000	0.41137	0.533000	0.62120	AAT		0.448	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DIAPH3	81624	broad.mit.edu	37	13	60413506	60413506	+	Silent	SNP	G	G	T	rs372259537		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:60413506G>T	ENST00000400324.4	-	23	3034	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	DIAPH3_ENST00000377908.2_Silent_p.T927T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Silent_p.T938T|DIAPH3_ENST00000267215.4_Silent_p.T938T|DIAPH3_ENST00000400320.1_Silent_p.T892T|DIAPH3_ENST00000400319.1_Silent_p.T868T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	938	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T938T(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GAGGGGGAAAGGTTTCCAATT	0.398																																					p.T675T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2025A	13						.	G	,	0,3732		0,0,1866	87.0	83.0	84.0		2814,2025	4.1	1.0	13		84	2,8190		0,2,4094	no	coding-synonymous,coding-synonymous	DIAPH3	NM_001042517.1,NM_030932.3	,	0,2,5960	TT,TG,GG		0.0244,0.0,0.0168	,	938/1194,675/850	60413506	2,11922	1866	4096	5962	59311507	SO:0001819	synonymous_variant	81624	exon17			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2814C>A	13.37:g.60413506G>T		Somatic		Capture	Illumina HiSeq	Phase_I	59311507	NM_030932	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	CCDS41898.1																																																																																				0.398	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
TDRD3	81550	broad.mit.edu	37	13	61102983	61102983	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:61102983A>C	ENST00000196169.3	+	11	2133	c.1345A>C	c.(1345-1347)Att>Ctt	p.I449L	TDRD3_ENST00000535286.1_Missense_Mutation_p.I542L|TDRD3_ENST00000377894.2_Missense_Mutation_p.I449L|TDRD3_ENST00000377881.2_Missense_Mutation_p.I449L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	449					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.I449L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCAAACATCTATTCCTGATTA	0.299																																					p.I449L	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1345C	13						.						42.0	48.0	46.0					13																	61102983		2197	4296	6493	60000984	SO:0001583	missense	81550	exon11			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1345A>C	13.37:g.61102983A>C	ENSP00000196169:p.Ile449Leu	Somatic		Capture	Illumina HiSeq	Phase_I	60000984	NM_030794	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	6.019	0.371936	0.11409	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	6.16	4.97	0.65823	.	0.417579	0.31797	N	0.007057	D	0.84469	0.5479	N	0.08118	0	0.21527	N	0.999651	B;B;B	0.14438	0.01;0.002;0.002	B;B;B	0.14023	0.01;0.008;0.005	T	0.68827	-0.5306	9	.	.	.	-8.5885	13.0601	0.59002	0.7485:0.2515:0.0:0.0	.	542;448;449	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	449;449;449;542	ENSP00000196169:I449L;ENSP00000367113:I449L;ENSP00000367126:I449L;ENSP00000440190:I542L	.	I	+	1	0	TDRD3	60000984	1.000000	0.71417	0.970000	0.41538	0.202000	0.24057	2.714000	0.47202	1.114000	0.41781	0.528000	0.53228	ATT		0.299	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
PCDH20	64881	broad.mit.edu	37	13	61985983	61985983	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:61985983G>T	ENST00000409186.1	-	5	4354	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	PCDH20_ENST00000409204.4_Missense_Mutation_p.S750Y			Q8N6Y1	PCD20_HUMAN	protocadherin 20	750	Cadherin 6. {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)|poly(A) RNA binding (GO:0044822)	p.S723Y(1)|p.S750Y(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAACAGATAAGACATATTAGA	0.463																																					p.S750Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2249A	13						.						103.0	109.0	107.0					13																	61985983		2203	4300	6503	60883984	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2249C>A	13.37:g.61985983G>T	ENSP00000386653:p.Ser750Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	60883984	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598293	0.66332	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.53206	0.63;0.63	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000008	T	0.75946	0.3919	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78484	-0.2186	10	0.62326	D	0.03	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	750	A8K1K9	.	Y	750;750;496	ENSP00000387250:S750Y;ENSP00000386653:S750Y	ENSP00000351500:S496Y	S	-	2	0	PCDH20	60883984	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	9.773000	0.98989	2.812000	0.96745	0.557000	0.71058	TCT		0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH20	64881	broad.mit.edu	37	13	61987703	61987703	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:61987703G>T	ENST00000409186.1	-	5	2634	c.529C>A	c.(529-531)Ctt>Att	p.L177I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L177I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	177	Cadherin 1. {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)|poly(A) RNA binding (GO:0044822)	p.L177I(1)|p.L150I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGCAGCAAAAGACAAGAGTCA	0.557																																					p.L177I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C529A	13						.						85.0	70.0	75.0					13																	61987703		2203	4300	6503	60885704	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.529C>A	13.37:g.61987703G>T	ENSP00000386653:p.Leu177Ile	Somatic		Capture	Illumina HiSeq	Phase_I	60885704	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	g	12.35	1.913089	0.33815	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.55052	0.54;0.54	5.65	4.77	0.60923	.	0.111999	0.39985	N	0.001204	T	0.40570	0.1122	L	0.35854	1.095	0.29207	N	0.874841	B	0.06786	0.001	B	0.04013	0.001	T	0.21348	-1.0248	10	0.29301	T	0.29	.	11.0069	0.47639	0.0773:0.1431:0.7796:0.0	.	177	A8K1K9	.	I	177	ENSP00000387250:L177I;ENSP00000386653:L177I	ENSP00000386653:L177I	L	-	1	0	PCDH20	60885704	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.747000	0.38298	2.664000	0.90586	0.651000	0.88453	CTT		0.557	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH9	5101	broad.mit.edu	37	13	67205377	67205377	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:67205377C>A	ENST00000377865.2	-	3	3439	c.3305G>T	c.(3304-3306)aGg>aTg	p.R1102M	PCDH9_ENST00000544246.1_Missense_Mutation_p.R1102M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R1068M|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.R1068M			Q9HC56	PCDH9_HUMAN	protocadherin 9	1102					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1102M(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGCTTCAGTCCTCTTGTCCGG	0.512																																					p.R1068M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3203T	13						.						113.0	111.0	112.0					13																	67205377		2203	4300	6503	66103378	SO:0001583	missense	5101	exon3			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3305G>T	13.37:g.67205377C>A	ENSP00000367096:p.Arg1102Met	Somatic		Capture	Illumina HiSeq	Phase_I	66103378	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168436	0.78339	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.58940	0.45;0.45;0.3;0.3	5.49	4.65	0.58169	.	0.135496	0.48767	D	0.000176	T	0.71995	0.3406	L	0.57536	1.79	0.44852	D	0.997867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.74680	-0.3584	10	0.66056	D	0.02	.	14.2321	0.65901	0.0:0.9281:0.0:0.0719	.	1060;1068;1102	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	M	1102;1102;1068;1068	ENSP00000442186:R1102M;ENSP00000367096:R1102M;ENSP00000401699:R1068M;ENSP00000332060:R1068M	ENSP00000332060:R1068M	R	-	2	0	PCDH9	66103378	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.452000	0.80683	1.320000	0.45209	0.655000	0.94253	AGG		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
PCDH9	5101	broad.mit.edu	37	13	67800976	67800976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:67800976C>A	ENST00000377865.2	-	1	1731	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	PCDH9_ENST00000544246.1_Nonsense_Mutation_p.E533*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E533*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E533*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E533*			Q9HC56	PCDH9_HUMAN	protocadherin 9	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E533*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTTGTTCTTCTCTGTCAAAT	0.453																																					p.E533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1597T	13						.						88.0	91.0	90.0					13																	67800976		2203	4300	6503	66698977	SO:0001587	stop_gained	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1597G>T	13.37:g.67800976C>A	ENSP00000367096:p.Glu533*	Somatic		Capture	Illumina HiSeq	Phase_I	66698977	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802066	0.96960	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	533	.	ENSP00000332060:E533X	E	-	1	0	PCDH9	66698977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAA		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
PCDH9	5101	broad.mit.edu	37	13	67801619	67801619	+	Missense_Mutation	SNP	T	T	G	rs374072267		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:67801619T>G	ENST00000377865.2	-	1	1088	c.954A>C	c.(952-954)ttA>ttC	p.L318F	PCDH9_ENST00000544246.1_Missense_Mutation_p.L318F|PCDH9_ENST00000456367.1_Missense_Mutation_p.L318F|PCDH9_ENST00000328454.5_Missense_Mutation_p.L318F|PCDH9_ENST00000377861.3_Missense_Mutation_p.L318F			Q9HC56	PCDH9_HUMAN	protocadherin 9	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L318F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTCTCTATCTAAGGACCTCT	0.483																																					p.L318F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A954C	13						.	T	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	94.0		954,954	5.0	1.0	13		94	0,8600		0,0,4300	no	missense,missense	PCDH9	NM_020403.4,NM_203487.2	22,22	0,1,6502	GG,GT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	318/1204,318/1238	67801619	1,13005	2203	4300	6503	66699620	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.954A>C	13.37:g.67801619T>G	ENSP00000367096:p.Leu318Phe	Somatic		Capture	Illumina HiSeq	Phase_I	66699620	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933664	0.34096	2.27E-4	0.0	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	6.17	5.0	0.66597	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	L	0.58669	1.825	0.54753	D	0.999989	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.83469	0.0058	10	0.87932	D	0	.	11.1544	0.48478	0.0:0.075:0.0:0.925	.	318;318;318;318	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	F	318	ENSP00000442186:L318F;ENSP00000367096:L318F;ENSP00000401699:L318F;ENSP00000332060:L318F;ENSP00000367092:L318F	ENSP00000332060:L318F	L	-	3	2	PCDH9	66699620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.143000	0.42306	0.533000	0.62120	TTA		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
KLHL1	57626	broad.mit.edu	37	13	70293683	70293683	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:70293683A>T	ENST00000377844.4	-	9	2592	c.1833T>A	c.(1831-1833)agT>agA	p.S611R	KLHL1_ENST00000545028.1_Missense_Mutation_p.S418R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	611					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S611R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCAAACAGGAACTTCCATCAC	0.388																																					p.S611R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1833A	13						.						91.0	83.0	86.0					13																	70293683		2203	4300	6503	69191684	SO:0001583	missense	57626	exon9			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1833T>A	13.37:g.70293683A>T	ENSP00000367075:p.Ser611Arg	Somatic		Capture	Illumina HiSeq	Phase_I	69191684	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081559	0.76528	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78364	-1.17;-1.17	5.82	0.635	0.17723	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.79873	0.4521	L	0.37630	1.12	0.39278	D	0.964513	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.992	T	0.78499	-0.2180	10	0.54805	T	0.06	.	10.9948	0.47569	0.6079:0.0:0.3921:0.0	.	611;611	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	611;418	ENSP00000367075:S611R;ENSP00000439602:S418R	ENSP00000367075:S611R	S	-	3	2	KLHL1	69191684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.778000	0.38614	0.131000	0.18576	0.533000	0.62120	AGT		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
KLHL1	57626	broad.mit.edu	37	13	70371056	70371056	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:70371056G>A	ENST00000377844.4	-	7	2212	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	KLHL1_ENST00000545028.1_Silent_p.L292L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	485					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L485L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGGATCCACAGATTTGTTCTC	0.388																																					p.L485L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1453T	13						.						177.0	163.0	168.0					13																	70371056		2203	4300	6503	69269057	SO:0001819	synonymous_variant	57626	exon7			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1453C>T	13.37:g.70371056G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69269057	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																				0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
KLHL1	57626	broad.mit.edu	37	13	70456525	70456525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:70456525C>A	ENST00000377844.4	-	5	1876	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E180*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	373					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.E373*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGATGGTTTCTTCATCAGGA	0.418																																					p.E373X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1117T	13						.						157.0	129.0	138.0					13																	70456525		2203	4300	6503	69354526	SO:0001587	stop_gained	57626	exon5			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1117G>T	13.37:g.70456525C>A	ENSP00000367075:p.Glu373*	Somatic		Capture	Illumina HiSeq	Phase_I	69354526	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	c	40	8.247479	0.98724	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	4.89	4.05	0.47172	.	0.087185	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.7009	0.62608	0.0:0.9244:0.0:0.0756	.	.	.	.	X	373;180	.	ENSP00000367075:E373X	E	-	1	0	KLHL1	69354526	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.058000	0.71126	1.195000	0.43115	-0.185000	0.12909	GAA		0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
KLHL1	57626	broad.mit.edu	37	13	70681804	70681804	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:70681804C>T	ENST00000377844.4	-	1	787	c.28G>A	c.(28-30)Gat>Aat	p.D10N	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	10					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.D10N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGCTTCACATCGAAGTCTTTT	0.627																																					p.D10N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G28A	13						.																																			69579805	SO:0001583	missense	57626	exon1			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.28G>A	13.37:g.70681804C>T	ENSP00000367075:p.Asp10Asn	Somatic		Capture	Illumina HiSeq	Phase_I	69579805	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978292	0.74360	.	.	ENSG00000150361	ENST00000377844	D	0.89343	-2.5	5.28	3.51	0.40186	.	0.000000	0.53938	D	0.000051	D	0.89343	0.6688	M	0.62723	1.935	0.80722	D	1	B;D	0.69078	0.222;0.997	B;P	0.51895	0.031;0.683	D	0.87941	0.2717	10	0.72032	D	0.01	.	9.2965	0.37819	0.0:0.7786:0.1444:0.077	.	10;10	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	N	10	ENSP00000367075:D10N	ENSP00000367075:D10N	D	-	1	0	KLHL1	69579805	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.607000	0.46300	0.569000	0.29329	0.655000	0.94253	GAT		0.627	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
TBC1D4	9882	broad.mit.edu	37	13	75866316	75866316	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:75866316G>T	ENST00000377636.3	-	19	3754	c.3408C>A	c.(3406-3408)agC>agA	p.S1136R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1128R|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S300R|TBC1D4_ENST00000478591.1_5'Flank|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S1073R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1136					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.S1136R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TATTTTCAAAGCTCTCACATT	0.328																																					p.S1136R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3408A	13						.						79.0	77.0	77.0					13																	75866316		1820	4082	5902	74764317	SO:0001583	missense	9882	exon19			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3408C>A	13.37:g.75866316G>T	ENSP00000366863:p.Ser1136Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74764317	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986865	0.53934	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.63	4.6	0.57074	Rab-GAP/TBC domain (1);	0.220497	0.39274	N	0.001420	T	0.29321	0.0730	L	0.58101	1.795	0.44668	D	0.997654	B;P;B;B	0.42337	0.439;0.776;0.439;0.308	B;B;B;B	0.43867	0.125;0.434;0.156;0.038	T	0.04090	-1.0978	10	0.72032	D	0.01	-18.6474	10.0812	0.42391	0.1509:0.0:0.8491:0.0	.	300;1073;1128;1136	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	R	1136;1128;1073;300	ENSP00000366863:S1136R;ENSP00000395986:S1128R;ENSP00000366852:S1073R;ENSP00000390654:S300R	ENSP00000366852:S1073R	S	-	3	2	TBC1D4	74764317	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.553000	0.60753	2.639000	0.89480	0.650000	0.86243	AGC		0.328	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
LMO7	4008	broad.mit.edu	37	13	76195835	76195835	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:76195835G>T	ENST00000341547.4	+	1	1266	c.6G>T	c.(4-6)aaG>aaT	p.K2N	RP11-173B14.5_ENST00000568302.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.K2N|LMO7_ENST00000357063.3_Missense_Mutation_p.K2N	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	2					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K2N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTGCTATGAAGAAAATTAGGA	0.363																																					p.K2N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6T	13						.						41.0	39.0	40.0					13																	76195835		2203	4300	6503	75093836	SO:0001583	missense	4008	exon1			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.6G>T	13.37:g.76195835G>T	ENSP00000342112:p.Lys2Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75093836	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632418	0.46944	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.35789	1.29;1.35;1.4	5.22	2.09	0.27110	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.59424	0.857	T	0.28004	-1.0057	8	0.87932	D	0	.	5.2303	0.15418	0.4114:0.0:0.5886:0.0	.	2	Q8WWI1-3	.	N	2	ENSP00000342112:K2N;ENSP00000349571:K2N;ENSP00000366757:K2N	ENSP00000342112:K2N	K	+	3	2	LMO7	75093836	1.000000	0.71417	0.223000	0.23860	0.323000	0.28346	1.140000	0.31516	0.603000	0.29913	0.561000	0.74099	AAG		0.363	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
LMO7	4008	broad.mit.edu	37	13	76416068	76416068	+	Missense_Mutation	SNP	G	G	A	rs148659145	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:76416068G>A	ENST00000321797.8	+	22	4002	c.3281G>A	c.(3280-3282)cGc>cAc	p.R1094H	LMO7_ENST00000341547.4_Missense_Mutation_p.R1045H|LMO7_ENST00000526202.1_Missense_Mutation_p.R971H|LMO7_ENST00000377534.3_Missense_Mutation_p.R1379H|LMO7_ENST00000357063.3_Missense_Mutation_p.R1379H|LMO7_ENST00000465261.2_Missense_Mutation_p.R1094H			Q8WWI1	LMO7_HUMAN	LIM domain 7	1379	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1379H(1)|p.R1045H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGCAGAAGCGCCAGGCAGAG	0.542													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18643	0.0		0.0	False		,,,				2504	0.0				p.R1094H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3281A	13						.	G	HIS/ARG,HIS/ARG	9,4397	14.3+/-33.2	0,9,2194	77.0	75.0	76.0		3134,3281	-11.9	0.0	13	dbSNP_134	76	0,8600		0,0,4300	yes	missense,missense	LMO7	NM_005358.5,NM_015842.2	29,29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign,benign	1045/1350,1094/1386	76416068	9,12997	2203	4300	6503	75314069	SO:0001583	missense	4008	exon21			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3281G>A	13.37:g.76416068G>A	ENSP00000317802:p.Arg1094His	Somatic		Capture	Illumina HiSeq	Phase_I	75314069	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	G	9.987	1.229840	0.22542	0.002043	0.0	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.47869	1.41;1.4;1.4;0.83;0.84;0.84;0.83	5.94	-11.9	0.00025	.	1.728060	0.02886	N	0.133481	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.14438	0.002;0.0;0.01;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.0;0.001	T	0.41215	-0.9521	10	0.21540	T	0.41	7.4499	11.5387	0.50655	0.0789:0.1965:0.5904:0.1341	.	971;1045;1379;1094;1327	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	H	1045;1379;1379;993;1094;971;1094	ENSP00000342112:R1045H;ENSP00000349571:R1379H;ENSP00000366757:R1379H;ENSP00000366719:R993H;ENSP00000317802:R1094H;ENSP00000431129:R971H;ENSP00000433352:R1094H	ENSP00000317802:R1094H	R	+	2	0	LMO7	75314069	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.726000	0.00808	-5.055000	0.00023	-0.414000	0.06135	CGC		0.542	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
FBXL3	26224	broad.mit.edu	37	13	77581818	77581818	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:77581818A>G	ENST00000355619.5	-	5	1073	c.749T>C	c.(748-750)gTt>gCt	p.V250A	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	250					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.V250A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTAATCGAACATGTTTTTC	0.418																																					p.V250A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T749C	13						.						108.0	102.0	104.0					13																	77581818		2203	4300	6503	76479819	SO:0001583	missense	26224	exon5			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.749T>C	13.37:g.77581818A>G	ENSP00000347834:p.Val250Ala	Somatic		Capture	Illumina HiSeq	Phase_I	76479819	NM_012158	B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565454	0.65651	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52754	0.65;0.66	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.52364	1.645	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36383	-0.9750	10	0.08179	T	0.78	-22.6052	16.6093	0.84858	1.0:0.0:0.0:0.0	.	250	Q9UKT7	FBXL3_HUMAN	A	250;202	ENSP00000347834:V250A;ENSP00000412183:V202A	ENSP00000347834:V250A	V	-	2	0	FBXL3	76479819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	GTT		0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3		
SCEL	8796	broad.mit.edu	37	13	78130740	78130740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:78130740G>T	ENST00000349847.3	+	3	137	c.53G>T	c.(52-54)aGc>aTc	p.S18I	SCEL_ENST00000535157.1_Missense_Mutation_p.S18I|SCEL_ENST00000377246.3_Missense_Mutation_p.S18I	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	18					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.S18I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGATGAAGAGCACCACTCAG	0.438																																					p.S18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53T	13						.						199.0	206.0	204.0					13																	78130740		2203	4300	6503	77028741	SO:0001583	missense	8796	exon3			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.53G>T	13.37:g.78130740G>T	ENSP00000302579:p.Ser18Ile	Somatic		Capture	Illumina HiSeq	Phase_I	77028741	NM_144777	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806955	0.31961	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.31510	1.51;1.51;1.49	5.3	1.55	0.23275	.	0.199029	0.35936	N	0.002889	T	0.37376	0.1001	M	0.68952	2.095	0.28648	N	0.906785	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.53490	0.586;0.727;0.586	T	0.28202	-1.0051	10	0.87932	D	0	-1.5836	4.1364	0.10172	0.3388:0.168:0.4932:0.0	.	18;18;18	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	I	18	ENSP00000437895:S18I;ENSP00000366454:S18I;ENSP00000302579:S18I	ENSP00000315127:S18I	S	+	2	0	SCEL	77028741	0.198000	0.23374	0.200000	0.23457	0.047000	0.14425	0.220000	0.17660	0.302000	0.22762	0.563000	0.77884	AGC		0.438	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
EDNRB	1910	broad.mit.edu	37	13	78474102	78474102	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:78474102G>T	ENST00000334286.5	-	6	1322	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	EDNRB_ENST00000377211.4_Splice_Site_p.S452R|EDNRB_ENST00000446573.1_Splice_Site_p.S362R	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	362					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.S362R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCAACAGAAAGCTGCAACAAA	0.343																																					p.S362R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1086A	13						.						68.0	66.0	66.0					13																	78474102		2203	4299	6502	77372103	SO:0001630	splice_region_variant	1910	exon6			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1086-1C>A	13.37:g.78474102G>T		Somatic		Capture	Illumina HiSeq	Phase_I	77372103	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381431	0.61845	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.37584	1.19;1.19;1.19	6.06	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.072253	0.85682	D	0.000000	T	0.57651	0.2068	M	0.79343	2.45	0.58432	D	0.999991	D;B;D	0.76494	0.997;0.198;0.999	D;B;D	0.76071	0.964;0.171;0.987	T	0.59716	-0.7402	10	0.87932	D	0	.	9.2686	0.37657	0.2725:0.0:0.7275:0.0	.	362;452;362	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	R	452;362;362	ENSP00000366416:S452R;ENSP00000403401:S362R;ENSP00000335311:S362R	ENSP00000335311:S362R	S	-	3	2	EDNRB	77372103	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.186000	0.32078	0.871000	0.35750	0.650000	0.86243	AGC		0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		Missense_Mutation
EDNRB	1910	broad.mit.edu	37	13	78477335	78477335	+	Nonsense_Mutation	SNP	G	G	A	rs104894390		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:78477335G>A	ENST00000334286.5	-	3	993	c.757C>T	c.(757-759)Cga>Tga	p.R253*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R343*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R253*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	253					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.R253*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AAGCAGATTCGCAGATAACTT	0.378																																					p.R253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C757T	13	GRCh37	CM993141	EDNRB	M	rs104894390	.						149.0	149.0	149.0					13																	78477335		2203	4300	6503	77375336	SO:0001587	stop_gained	1910	exon3			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.757C>T	13.37:g.78477335G>A	ENSP00000335311:p.Arg253*	Somatic		Capture	Illumina HiSeq	Phase_I	77375336	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063463	0.93898	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.62	1.6	0.23607	.	0.106358	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0417	16.4526	0.83997	0.0:0.0:0.3389:0.6611	.	.	.	.	X	343;253;253	.	ENSP00000335311:R253X	R	-	1	2	EDNRB	77375336	0.998000	0.40836	0.803000	0.32268	0.383000	0.30230	0.721000	0.25911	-0.036000	0.13669	-0.188000	0.12872	CGA		0.378	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
RNF219	79596	broad.mit.edu	37	13	79190282	79190282	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:79190282G>T	ENST00000282003.6	-	6	1672	c.1614C>A	c.(1612-1614)atC>atA	p.I538I	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	538	Ser-rich.						zinc ion binding (GO:0008270)	p.I538I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CCAACTCAGAGATTTTGTCAA	0.398																																					p.I538I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1614A	13						.						138.0	139.0	139.0					13																	79190282		2203	4300	6503	78088283	SO:0001819	synonymous_variant	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1614C>A	13.37:g.79190282G>T		Somatic		Capture	Illumina HiSeq	Phase_I	78088283	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	CCDS31997.1																																																																																				0.398	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
RBM26	64062	broad.mit.edu	37	13	79894757	79894757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:79894757C>A	ENST00000438737.2	-	22	3463	c.3023G>T	c.(3022-3024)tGa>tTa	p.*1008L	RBM26_ENST00000438724.1_Nonstop_Mutation_p.*984L|RBM26_ENST00000267229.7_Nonstop_Mutation_p.*981L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	0					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.*981L(1)|p.*1008L(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCAGTCAAATCATCTTCTCCA	0.323																																					p.X981L												.	.	2	Nonstop extension(2)	large_intestine(2)	c.G2942T	13						.						131.0	109.0	117.0					13																	79894757		2201	4298	6499	78792758	SO:0001578	stop_lost	64062	exon21			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.3023G>T	13.37:g.79894757C>A		Somatic		Capture	Illumina HiSeq	Phase_I	78792758	NM_022118	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Nonstop_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	C	15.63	2.891240	0.52014	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3016	0.98615	0.0:1.0:0.0:0.0	.	.	.	.	L	981;1009;1008;984	.	.	X	-	2	2	RBM26	78792758	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.623000	0.74238	2.806000	0.96561	0.644000	0.83932	TGA		0.323	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	
SLITRK1	114798	broad.mit.edu	37	13	84454777	84454777	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:84454777G>T	ENST00000377084.2	-	1	1751	c.866C>A	c.(865-867)cCt>cAt	p.P289H		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P289H(1)|p.P289L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTTGAAAGGAGTTGGCAG	0.537																																					p.P289H												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C866A	13						.						76.0	76.0	76.0					13																	84454777		2203	4300	6503	83352778	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.866C>A	13.37:g.84454777G>T	ENSP00000366288:p.Pro289His	Somatic		Capture	Illumina HiSeq	Phase_I	83352778	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641747	0.47153	.	.	ENSG00000178235	ENST00000377084	T	0.59502	0.26	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.29908	0.895	0.58432	D	0.999998	D	0.61697	0.99	P	0.57776	0.827	T	0.65236	-0.6217	10	0.59425	D	0.04	-6.5717	16.699	0.85343	0.0:0.0:1.0:0.0	.	289	Q96PX8	SLIK1_HUMAN	H	289	ENSP00000366288:P289H	ENSP00000366288:P289H	P	-	2	0	SLITRK1	83352778	.	.	1.000000	0.80357	0.920000	0.55202	.	.	2.525000	0.85131	0.555000	0.69702	CCT		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK1	114798	broad.mit.edu	37	13	84454883	84454883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:84454883C>A	ENST00000377084.2	-	1	1645	c.760G>T	c.(760-762)Gaa>Taa	p.E254*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	254	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.E254*(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCGGTGGTTTCATTGAGGTCT	0.562																																					p.E254X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G760T	13						.						66.0	70.0	69.0					13																	84454883		2203	4300	6503	83352884	SO:0001587	stop_gained	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.760G>T	13.37:g.84454883C>A	ENSP00000366288:p.Glu254*	Somatic		Capture	Illumina HiSeq	Phase_I	83352884	NM_052910	Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	44	10.990994	0.99499	.	.	ENSG00000178235	ENST00000377084	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.2936	16.3895	0.83528	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000366288:E254X	E	-	1	0	SLITRK1	83352884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.456000	0.83038	0.555000	0.69702	GAA		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK6	84189	broad.mit.edu	37	13	86368411	86368411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:86368411C>A	ENST00000400286.2	-	2	2831	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	745					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.E745*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GATAAAAATTCTGTTGATTGG	0.363																																					p.E745X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2233T	13						.						237.0	229.0	231.0					13																	86368411		1855	4087	5942	85266412	SO:0001587	stop_gained	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2233G>T	13.37:g.86368411C>A	ENSP00000383143:p.Glu745*	Somatic		Capture	Illumina HiSeq	Phase_I	85266412	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	44	10.713454	0.99455	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.84	5.84	0.93424	.	0.076999	0.51477	U	0.000098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-7.2792	18.719	0.91686	0.0:1.0:0.0:0.0	.	.	.	.	X	745	.	ENSP00000383143:E745X	E	-	1	0	SLITRK6	85266412	1.000000	0.71417	0.966000	0.40874	0.902000	0.53008	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GAA		0.363	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SLITRK6	84189	broad.mit.edu	37	13	86370076	86370076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:86370076G>T	ENST00000400286.2	-	2	1166	c.568C>A	c.(568-570)Ctt>Att	p.L190I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	190					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L190I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCACGAAGATCTAGATGG	0.388																																					p.L190I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568A	13						.						117.0	107.0	110.0					13																	86370076		1858	4089	5947	85268077	SO:0001583	missense	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.568C>A	13.37:g.86370076G>T	ENSP00000383143:p.Leu190Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85268077	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543791	0.65198	.	.	ENSG00000184564	ENST00000400286	T	0.74421	-0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.76727	2.345	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.85000	0.0899	10	0.56958	D	0.05	-16.7248	12.7145	0.57107	0.0748:0.0:0.9252:0.0	.	190	Q9H5Y7	SLIK6_HUMAN	I	190	ENSP00000383143:L190I	ENSP00000383143:L190I	L	-	1	0	SLITRK6	85268077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.827000	0.75303	2.941000	0.99782	0.655000	0.94253	CTT		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
DCT	1638	broad.mit.edu	37	13	95095841	95095841	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:95095841A>C	ENST00000377028.5	-	7	1643	c.1230T>G	c.(1228-1230)ttT>ttG	p.F410L	DCT_ENST00000446125.1_Missense_Mutation_p.F443L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	410					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.F410L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CAGGAGGATTAAATCTTTTCA	0.443																																					p.F410L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1230G	13						.						72.0	68.0	70.0					13																	95095841		2203	4300	6503	93893842	SO:0001583	missense	1638	exon7			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1230T>G	13.37:g.95095841A>C	ENSP00000366227:p.Phe410Leu	Somatic		Capture	Illumina HiSeq	Phase_I	93893842	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180331	0.38511	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99080	-5.05;-5.4	5.79	-1.74	0.08056	Uncharacterised domain, di-copper centre (2);	0.167713	0.56097	D	0.000037	D	0.97108	0.9055	L	0.57536	1.79	0.23174	N	0.998177	P;B	0.38335	0.627;0.265	B;B	0.36186	0.219;0.05	D	0.93401	0.6760	10	0.66056	D	0.02	-2.8255	13.1907	0.59709	0.7043:0.0:0.2957:0.0	.	443;410	Q09GT4;P40126	.;TYRP2_HUMAN	L	17;410;443	ENSP00000366227:F410L;ENSP00000392762:F443L	ENSP00000366220:F17L	F	-	3	2	DCT	93893842	0.029000	0.19370	0.001000	0.08648	0.665000	0.39181	0.431000	0.21444	-0.209000	0.10156	-0.182000	0.12963	TTT		0.443	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DCT	1638	broad.mit.edu	37	13	95114330	95114330	+	Missense_Mutation	SNP	C	C	T	rs140917943	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:95114330C>T	ENST00000377028.5	-	5	1390	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	DCT_ENST00000446125.1_Missense_Mutation_p.R326Q|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	326					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R326Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CAGGCAATCTCGTATGTCTTT	0.463													c|||	2	0.000399361	0.0015	0.0	5008	,	,		19038	0.0		0.0	False		,,,				2504	0.0				p.R326Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G977A	13						.		GLN/ARG,GLN/ARG	16,4390	23.3+/-48.9	1,14,2188	148.0	127.0	134.0		977,977	2.8	0.4	13	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DCT	NM_001129889.1,NM_001922.3	43,43	1,15,6487	TT,TC,CC		0.0116,0.3631,0.1307	benign,benign	326/553,326/520	95114330	17,12989	2203	4300	6503	93912331	SO:0001583	missense	1638	exon5			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.977G>A	13.37:g.95114330C>T	ENSP00000366227:p.Arg326Gln	Somatic		Capture	Illumina HiSeq	Phase_I	93912331	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	10.22	1.290427	0.23478	0.003631	1.16E-4	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98362	-4.89;-4.89	5.52	2.84	0.33178	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.358411	0.32918	N	0.005482	D	0.92841	0.7723	N	0.11255	0.115	0.25933	N	0.982974	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.0	D	0.84401	0.0560	10	0.21014	T	0.42	-1.7603	9.1609	0.37021	0.0:0.2315:0.0:0.7685	.	326;326	Q09GT4;P40126	.;TYRP2_HUMAN	Q	326	ENSP00000366227:R326Q;ENSP00000392762:R326Q	ENSP00000366227:R326Q	R	-	2	0	DCT	93912331	1.000000	0.71417	0.432000	0.26747	0.736000	0.42039	2.756000	0.47549	0.367000	0.24454	-0.471000	0.05019	CGA		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
ABCC4	10257	broad.mit.edu	37	13	95886893	95886893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:95886893C>T	ENST00000376887.4	-	4	616	c.502G>A	c.(502-504)Gta>Ata	p.V168I	ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.V168I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V168I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	168	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V168I(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CACATGGCTACTCGTAACCTC	0.423																																					p.V168I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G502A	13						.						124.0	102.0	109.0					13																	95886893		2203	4300	6503	94684894	SO:0001583	missense	10257	exon4			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.502G>A	13.37:g.95886893C>T	ENSP00000366084:p.Val168Ile	Somatic		Capture	Illumina HiSeq	Phase_I	94684894	NM_001105515	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211359	0.22289	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	T;T;T	0.44083	0.93;0.93;0.93	4.99	2.3	0.28687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.243126	0.41396	N	0.000888	T	0.35451	0.0932	L	0.45352	1.415	0.40727	D	0.982715	B;B;B;B	0.30511	0.025;0.282;0.009;0.007	B;B;B;B	0.33196	0.047;0.159;0.047;0.024	T	0.07481	-1.0770	10	0.30854	T	0.27	.	12.7267	0.57174	0.0:0.7961:0.0:0.2039	.	168;168;168;168	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	168	ENSP00000388657:V168I;ENSP00000366084:V168I;ENSP00000398562:V168I	ENSP00000366084:V168I	V	-	1	0	ABCC4	94684894	0.945000	0.32115	0.149000	0.22428	0.935000	0.57460	2.083000	0.41615	-0.061000	0.13110	-0.797000	0.03246	GTA		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
DZIP1	22873	broad.mit.edu	37	13	96241418	96241418	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96241418A>G	ENST00000376829.2	-	19	2868	c.2017T>C	c.(2017-2019)Tca>Cca	p.S673P	DZIP1_ENST00000361396.2_Missense_Mutation_p.S654P|DZIP1_ENST00000361156.3_Missense_Mutation_p.S654P|DZIP1_ENST00000347108.3_Missense_Mutation_p.S673P	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	673					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S654P(1)|p.S673P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTAATAGTTGAAGACTTTCTG	0.289																																					p.S654P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1960C	13						.						64.0	65.0	65.0					13																	96241418		2203	4300	6503	95039419	SO:0001583	missense	22873	exon18			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2017T>C	13.37:g.96241418A>G	ENSP00000366025:p.Ser673Pro	Somatic		Capture	Illumina HiSeq	Phase_I	95039419	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	A	8.790	0.930347	0.18131	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.07216	3.26;3.21;3.21;3.26	5.57	1.73	0.24493	.	0.759640	0.12662	N	0.449516	T	0.06690	0.0171	L	0.48642	1.525	0.28227	N	0.926289	B;B	0.19583	0.037;0.022	B;B	0.16722	0.016;0.007	T	0.41787	-0.9489	10	0.19590	T	0.45	-0.0404	3.1054	0.06340	0.6169:0.0:0.2076:0.1755	.	654;673	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	P	673;654;654;673	ENSP00000257312:S673P;ENSP00000355018:S654P;ENSP00000355175:S654P;ENSP00000366025:S673P	ENSP00000257312:S673P	S	-	1	0	DZIP1	95039419	0.998000	0.40836	0.172000	0.22920	0.784000	0.44337	1.155000	0.31700	0.064000	0.16427	0.528000	0.53228	TCA		0.289	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96242592	96242592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96242592C>T	ENST00000376829.2	-	17	2635	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	DZIP1_ENST00000361396.2_Missense_Mutation_p.R576Q|DZIP1_ENST00000361156.3_Missense_Mutation_p.R576Q|DZIP1_ENST00000347108.3_Missense_Mutation_p.R595Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	595					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R576Q(2)|p.R595Q(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAGGAATTCTCGAATTTGATG	0.368																																					p.R576Q												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G1727A	13						.						200.0	179.0	186.0					13																	96242592		2203	4300	6503	95040593	SO:0001583	missense	22873	exon16			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1784G>A	13.37:g.96242592C>T	ENSP00000366025:p.Arg595Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95040593	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613807	0.87359	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.19532	2.14;2.19;2.19;2.14	5.66	5.66	0.87406	.	0.152609	0.45361	D	0.000372	T	0.47600	0.1454	M	0.74258	2.255	0.36969	D	0.893749	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.941	T	0.55496	-0.8132	10	0.72032	D	0.01	-11.5579	16.6566	0.85230	0.0:1.0:0.0:0.0	.	576;595	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Q	595;576;576;595	ENSP00000257312:R595Q;ENSP00000355018:R576Q;ENSP00000355175:R576Q;ENSP00000366025:R595Q	ENSP00000257312:R595Q	R	-	2	0	DZIP1	95040593	0.999000	0.42202	0.989000	0.46669	0.891000	0.51852	4.413000	0.59795	2.665000	0.90641	0.561000	0.74099	CGA		0.368	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96277116	96277116	+	Missense_Mutation	SNP	T	T	C	rs534336779	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96277116T>C	ENST00000376829.2	-	8	1729	c.878A>G	c.(877-879)gAa>gGa	p.E293G	DZIP1_ENST00000361396.2_Missense_Mutation_p.E293G|DZIP1_ENST00000361156.3_Missense_Mutation_p.E293G|DZIP1_ENST00000347108.3_Missense_Mutation_p.E293G	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	293					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E293G(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTCTCCTTTTCTTCTTCTTT	0.284																																					p.E293G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A878G	13						.						111.0	105.0	107.0					13																	96277116		2201	4299	6500	95075117	SO:0001583	missense	22873	exon8			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.878A>G	13.37:g.96277116T>C	ENSP00000366025:p.Glu293Gly	Somatic		Capture	Illumina HiSeq	Phase_I	95075117	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371809	0.82573	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.4	5.4	0.78164	.	0.129187	0.56097	D	0.000027	T	0.70971	0.3285	M	0.83953	2.67	0.45239	D	0.99824	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73858	-0.3850	10	0.46703	T	0.11	-18.1128	15.7187	0.77691	0.0:0.0:0.0:1.0	.	293;293	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	G	293	ENSP00000257312:E293G;ENSP00000355018:E293G;ENSP00000355175:E293G;ENSP00000366025:E293G	ENSP00000257312:E293G	E	-	2	0	DZIP1	95075117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.174000	0.68829	0.533000	0.62120	GAA		0.284	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96282338	96282338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96282338G>A	ENST00000376829.2	-	7	1566	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	DZIP1_ENST00000361396.2_Missense_Mutation_p.L239F|DZIP1_ENST00000361156.3_Missense_Mutation_p.L239F|DZIP1_ENST00000347108.3_Missense_Mutation_p.L239F	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	239					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L239F(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCACTCCGGAGCTTCTCAATC	0.468																																					p.L239F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C715T	13						.						108.0	88.0	95.0					13																	96282338		2203	4300	6503	95080339	SO:0001583	missense	22873	exon7			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.715C>T	13.37:g.96282338G>A	ENSP00000366025:p.Leu239Phe	Somatic		Capture	Illumina HiSeq	Phase_I	95080339	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459210	0.43634	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.38	3.61	0.41365	.	0.000000	0.64402	D	0.000002	T	0.72220	0.3433	M	0.77616	2.38	0.34882	D	0.744667	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.79451	-0.1798	10	0.72032	D	0.01	-15.0512	8.6513	0.34035	0.2289:0.0:0.7711:0.0	.	239;239;239	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	F	239	ENSP00000257312:L239F;ENSP00000355018:L239F;ENSP00000355175:L239F;ENSP00000366025:L239F	ENSP00000257312:L239F	L	-	1	0	DZIP1	95080339	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	1.709000	0.37909	2.530000	0.85305	0.655000	0.94253	CTC		0.468	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DNAJC3	5611	broad.mit.edu	37	13	96412328	96412328	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96412328G>A	ENST00000602402.1	+	6	698	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R143Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.R194Q(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGGAACTTCGAGCTGAATGT	0.348																																					p.R194Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581A	13						.						112.0	112.0	112.0					13																	96412328		2203	4300	6503	95210329	SO:0001583	missense	5611	exon6			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.581G>A	13.37:g.96412328G>A	ENSP00000473631:p.Arg194Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95210329	NM_006260	Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499376	0.96355	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89562	0.3807	9	0.87932	D	0	-3.6208	19.5168	0.95168	0.0:0.0:1.0:0.0	.	194;194	A8KA82;Q13217	.;DNJC3_HUMAN	Q	194	.	ENSP00000365991:R194Q	R	+	2	0	DNAJC3	95210329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.171000	0.94802	2.609000	0.88269	0.561000	0.74099	CGA		0.348	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3		
UGGT2	55757	broad.mit.edu	37	13	96665580	96665580	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96665580A>G	ENST00000376747.3	-	5	711	c.641T>C	c.(640-642)gTt>gCt	p.V214A	UGGT2_ENST00000376714.3_Missense_Mutation_p.V214A|UGGT2_ENST00000397618.3_Missense_Mutation_p.V214A|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Missense_Mutation_p.V214A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	214					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.V214A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATGGCGAAGAACATACAGAAT	0.333																																					p.V214A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T641C	13						.						97.0	91.0	93.0					13																	96665580		2203	4300	6503	95463581	SO:0001583	missense	55757	exon5			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.641T>C	13.37:g.96665580A>G	ENSP00000365938:p.Val214Ala	Somatic		Capture	Illumina HiSeq	Phase_I	95463581	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077292	0.76415	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.37584	2.8;1.19	5.49	5.49	0.81192	.	0.064498	0.64402	D	0.000009	T	0.58935	0.2157	M	0.78456	2.415	0.58432	D	0.999999	D;D;P	0.57899	0.981;0.981;0.701	P;P;B	0.61132	0.884;0.884;0.285	T	0.64795	-0.6323	10	0.87932	D	0	-28.6089	15.5906	0.76523	1.0:0.0:0.0:0.0	.	214;214;214	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	A	214	ENSP00000365938:V214A;ENSP00000380743:V214A	ENSP00000365902:V214A	V	-	2	0	UGGT2	95463581	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.507000	0.90522	2.083000	0.62718	0.482000	0.46254	GTT		0.333	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
FARP1	10160	broad.mit.edu	37	13	98865617	98865617	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:98865617T>C	ENST00000319562.6	+	2	386	c.121T>C	c.(121-123)Tcc>Ccc	p.S41P	FARP1_ENST00000376586.2_Missense_Mutation_p.S41P|FARP1_ENST00000376581.5_Missense_Mutation_p.S41P|FARP1_ENST00000595437.1_Missense_Mutation_p.S41P	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	41	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S41P(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAACTCGTGTCCATCAAAAT	0.557																																					p.S41P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T121C	13						.						144.0	155.0	151.0					13																	98865617		2203	4300	6503	97663618	SO:0001583	missense	10160	exon2			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.121T>C	13.37:g.98865617T>C	ENSP00000322926:p.Ser41Pro	Somatic		Capture	Illumina HiSeq	Phase_I	97663618	NM_005766	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.027077	0.35797	.	.	ENSG00000152767	ENST00000376581;ENST00000376586;ENST00000319562	T;T;T	0.78707	0.78;-1.2;-1.04	5.75	4.54	0.55810	Band 4.1 domain (1);FERM domain (1);	0.402596	0.25025	N	0.033721	T	0.76615	0.4012	N	0.13299	0.325	0.38001	D	0.934217	P;D;P	0.89917	0.771;1.0;0.879	B;D;P	0.74674	0.174;0.984;0.583	T	0.77059	-0.2728	10	0.33940	T	0.23	.	11.8585	0.52453	0.1349:0.0:0.0:0.8651	.	41;41;41	Q9Y4F1;Q5JVI9;C9JME2	FARP1_HUMAN;.;.	P	41	ENSP00000365765:S41P;ENSP00000365771:S41P;ENSP00000322926:S41P	ENSP00000322926:S41P	S	+	1	0	FARP1	97663618	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.878000	0.48515	0.968000	0.38212	0.533000	0.62120	TCC		0.557	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
FARP1	10160	broad.mit.edu	37	13	98896949	98896949	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:98896949C>A	ENST00000319562.6	+	2	436				FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Missense_Mutation_p.L126I|FARP1_ENST00000595437.1_Intron	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L126I(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGAGCTTCTTAATCTTTT	0.388																																					p.L126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376A	13						.						84.0	84.0	84.0					13																	98896949		2203	4300	6503	97694950	SO:0001627	intron_variant	10160	exon3			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.171+31282C>A	13.37:g.98896949C>A		Somatic		Capture	Illumina HiSeq	Phase_I	97694950	NM_001001715	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176434	0.21704	.	.	ENSG00000152767	ENST00000376581	T	0.54279	0.58	3.86	0.0768	0.14405	.	.	.	.	.	T	0.24470	0.0593	N	0.08118	0	0.09310	N	1	P	0.42908	0.793	B	0.34590	0.186	T	0.14227	-1.0480	9	0.87932	D	0	.	3.626	0.08113	0.0:0.4797:0.1904:0.3299	.	126	Q5JVI9	.	I	126	ENSP00000365765:L126I	ENSP00000365765:L126I	L	+	1	0	FARP1	97694950	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.276000	0.18716	-0.033000	0.13736	0.655000	0.94253	CTT		0.388	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
STK24	8428	broad.mit.edu	37	13	99127564	99127564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:99127564C>A	ENST00000376547.3	-	4	560	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	STK24_ENST00000397517.2_Nonsense_Mutation_p.E127*|STK24_ENST00000539966.1_Nonsense_Mutation_p.E108*	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E139*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTCAGTATTTCTCTTAATATA	0.333																																					p.E139X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G415T	13						.						88.0	88.0	88.0					13																	99127564		2203	4299	6502	97925565	SO:0001587	stop_gained	8428	exon4			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.415G>T	13.37:g.99127564C>A	ENSP00000365730:p.Glu139*	Somatic		Capture	Illumina HiSeq	Phase_I	97925565	NM_003576	O14840|Q5JV92	Nonsense_Mutation	SNP	ENST00000376547.3	37	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.579887|5.579887	0.96565|0.96565	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	.|T	.|0.25250	.|1.81	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.56097|.	U|.	0.000023|.	.|T	.|0.50599	.|0.1625	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54951	.|-0.8216	.|5	0.87932|0.87932	D|D	0|0	.|.	18.8424|18.8424	0.92189|0.92189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	127;139;108;115;127|44	.|ENSP00000402764:R44I	ENSP00000365716:E115X|ENSP00000402764:R44I	E|R	-|-	1|2	0|0	STK24|STK24	97925565|97925565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.662000|7.662000	0.83803|0.83803	2.528000|2.528000	0.85240|0.85240	0.549000|0.549000	0.68633|0.68633	GAA|AGA		0.333	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576	
GPR183	1880	broad.mit.edu	37	13	99947642	99947642	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:99947642A>T	ENST00000376414.4	-	2	841	c.758T>A	c.(757-759)tTt>tAt	p.F253Y	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	253					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.F253Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						ACAGAGAACAAACACAACAAT	0.363																																					p.F253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T758A	13						.						80.0	81.0	81.0					13																	99947642		2203	4300	6503	98745643	SO:0001583	missense	1880	exon2			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.758T>A	13.37:g.99947642A>T	ENSP00000365596:p.Phe253Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	98745643	NM_004951	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512287	0.85389	.	.	ENSG00000169508	ENST00000376414	T	0.53206	0.63	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.052251	0.85682	D	0.000000	T	0.73737	0.3625	M	0.89163	3.01	0.58432	D	0.999995	D	0.76494	0.999	D	0.74674	0.984	T	0.78661	-0.2117	9	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	253	P32249	GP183_HUMAN	Y	253	ENSP00000365596:F253Y	.	F	-	2	0	GPR183	98745643	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	TTT		0.363	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
ZIC2	7546	broad.mit.edu	37	13	100635372	100635372	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:100635372A>G	ENST00000376335.3	+	1	1347	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	352					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I352V(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAACCTCAAGATCCACAAAAG	0.642																																					p.I352V	Pancreas(97;119 1522 31925 44771 48764)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1054G	13						.						42.0	47.0	46.0					13																	100635372		2203	4300	6503	99433373	SO:0001583	missense	7546	exon1			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1054A>G	13.37:g.100635372A>G	ENSP00000365514:p.Ile352Val	Somatic		Capture	Illumina HiSeq	Phase_I	99433373	NM_007129	Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077629	0.76528	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.94280	-3.39	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.052771	0.64402	D	0.000001	D	0.84174	0.5414	N	0.03000	-0.44	0.58432	D	0.999996	B	0.06786	0.001	B	0.15484	0.013	T	0.81404	-0.0948	10	0.87932	D	0	.	14.5943	0.68395	1.0:0.0:0.0:0.0	.	352	O95409	ZIC2_HUMAN	V	352;101	ENSP00000365514:I352V	ENSP00000365514:I352V	I	+	1	0	ZIC2	99433373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.087000	0.94110	2.109000	0.64355	0.459000	0.35465	ATC		0.642	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129	
NALCN	259232	broad.mit.edu	37	13	101833436	101833436	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:101833436C>T	ENST00000251127.6	-	15	1846				NALCN_ENST00000376196.3_3'UTR|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGCACTTTCCGAACACTACT	0.473																																					.												.	.	0			.	13						.						216.0	201.0	206.0					13																	101833436		876	1991	2867	100631437	SO:0001627	intron_variant	259232	.			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1765-4711G>A	13.37:g.101833436C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100631437	.	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Intron	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.473	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
COL4A2	1284	broad.mit.edu	37	13	111080803	111080803	+	Intron	SNP	C	C	T	rs532415822	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:111080803C>T	ENST00000360467.5	+	7	666					NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCACTGCTCTCTTTCCCAG	0.567																																					.												.	.	0			.	13						.						39.0	45.0	43.0					13																	111080803		1903	4119	6022	109878804	SO:0001627	intron_variant	1284	.			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.361-11C>T	13.37:g.111080803C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109878804	.	Q14052|Q548C3|Q5VZA9|Q66K23	Intron	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.567	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
ANKRD10	55608	broad.mit.edu	37	13	111558370	111558370	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:111558370A>C	ENST00000267339.2	-	3	590				ANKRD10_ENST00000310847.4_Intron|ANKRD10_ENST00000489973.2_Intron|ANKRD10_ENST00000375758.5_Intron	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10									p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			AATAAACGAAAGACACTTACT	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						63.0	46.0	52.0					13																	111558370		2203	4299	6502	110356371	SO:0001627	intron_variant	55608	.			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.455+9T>G	13.37:g.111558370A>C		Somatic		Capture	Illumina HiSeq	Phase_I	110356371	.	Q5VW12|Q9BV12	Intron	SNP	ENST00000267339.2	37	CCDS9520.1																																																																																				0.433	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
MICU2	221154	broad.mit.edu	37	13	22095373	22095373	+	Intron	SNP	C	C	T	rs200606334		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:22095373C>T	ENST00000382374.4	-	6	663					NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2						mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AAATAATTAGCGTCCACTTAC	0.294																																					.												.	.	0			.	13						.	C		1,4405	2.1+/-5.4	0,1,2202	65.0	62.0	63.0			0.5	0.0	13		63	11,8583	8.4+/-32.0	0,11,4286	no	intron	EFHA1	NM_152726.2		0,12,6488	TT,TC,CC		0.128,0.0227,0.0923			22095373	12,12988	2203	4297	6500	20993373	SO:0001627	intron_variant	221154	.			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.597+10G>A	13.37:g.22095373C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20993373	.	Q8N0T6|Q8NAX8	Intron	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																				0.294	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
RXFP2	122042	broad.mit.edu	37	13	32366806	32366806	+	Intron	SNP	C	C	A	rs199771350		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:32366806C>A	ENST00000298386.2	+	16	1446				RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGTTTCAATTCTTCCACAGGT	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						109.0	111.0	111.0					13																	32366806		2203	4300	6503	31264806	SO:0001627	intron_variant	122042	.			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1376-9C>A	13.37:g.32366806C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31264806	.	B1ALE9|Q3KU23	Intron	SNP	ENST00000298386.2	37	CCDS9342.1																																																																																				0.373	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
PDS5B	23047	broad.mit.edu	37	13	33268450	33268450	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:33268450G>T	ENST00000315596.10	+	14	1737					NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.?(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGTAAGTAAGAATTTTTTCC	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						82.0	80.0	81.0					13																	33268450		1804	4062	5866	32166450	SO:0001627	intron_variant	23047	.			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1551+9G>T	13.37:g.33268450G>T		Somatic		Capture	Illumina HiSeq	Phase_I	32166450	.	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Intron	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				0.303	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
NBEA	26960	broad.mit.edu	37	13	35756666	35756666	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:35756666G>A	ENST00000400445.3	+	29	5365		c.e29+1		NBEA_ENST00000379939.2_Splice_Site|NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000540320.1_Splice_Site	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin						protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.?(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACAAGTACAGGTACTTAACAT	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						91.0	83.0	85.0					13																	35756666		1829	4077	5906	34654666	SO:0001630	splice_region_variant	26960	.			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4831+1G>A	13.37:g.35756666G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34654666	.	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Splice_Site	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455681	0.84209	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6933	0.96010	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEA	34654666	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.869000	0.99810	2.651000	0.90000	0.467000	0.42956	.		0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	Intron
CCNA1	8900	broad.mit.edu	37	13	37011759	37011759	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:37011759T>G	ENST00000255465.4	+	3	561				CCNA1_ENST00000418263.1_Intron|CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.?(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATTTAAACGTTTTTTAGGGGA	0.463																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						107.0	119.0	115.0					13																	37011759		2203	4300	6503	35909759	SO:0001627	intron_variant	8900	.			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.298-7T>G	13.37:g.37011759T>G		Somatic		Capture	Illumina HiSeq	Phase_I	35909759	.	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Intron	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.463	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
TRPC4	7223	broad.mit.edu	37	13	38213384	38213384	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:38213384G>T	ENST00000379705.3	-	9	2979				TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379681.3_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATAGTACAAGGACAACTTAC	0.358																																					.												.	.	0			.	13						.						120.0	127.0	124.0					13																	38213384		2203	4300	6503	37111384	SO:0001627	intron_variant	7223	.			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2121+10C>A	13.37:g.38213384G>T		Somatic		Capture	Illumina HiSeq	Phase_I	37111384	.	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Intron	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.358	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39430404	39430404	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:39430404T>C	ENST00000280481.7	+	12	7272					NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTAAGTAATGTAATGTGTATG	0.393																																					.												.	.	0			.	13						.						92.0	90.0	91.0					13																	39430404		2203	4300	6503	38328404	SO:0001627	intron_variant	341640	.			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7056+11T>C	13.37:g.39430404T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38328404	.	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Intron	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
SLC25A15	10166	broad.mit.edu	37	13	41382739	41382739	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:41382739A>C	ENST00000338625.4	+	6	1017				MIR621_ENST00000384919.1_RNA	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15						cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GAAGGTGAGTAAATACCTGTT	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						41.0	40.0	40.0					13																	41382739		2203	4300	6503	40280739	SO:0001627	intron_variant	10166	.			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.781+7A>C	13.37:g.41382739A>C		Somatic		Capture	Illumina HiSeq	Phase_I	40280739	.	Q5VZD8|Q9HC45	Intron	SNP	ENST00000338625.4	37	CCDS9373.1																																																																																				0.418	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252	
TNFSF11	8600	broad.mit.edu	37	13	43175018	43175018	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:43175018G>A	ENST00000239849.6	+	4	584		c.e4-1		TNFSF11_ENST00000358545.2_Splice_Site|TNFSF11_ENST00000398795.2_Splice_Site|TNFSF11_ENST00000405262.2_Splice_Site|TNFSF11_ENST00000544862.1_Splice_Site			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11						activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.?(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	CTCATCTCCAGCGATGGTGGA	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						142.0	135.0	137.0					13																	43175018		2203	4300	6503	42073018	SO:0001630	splice_region_variant	8600	.			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.434-1G>A	13.37:g.43175018G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42073018	.	O14723|Q96Q17|Q9P2Q3	Splice_Site	SNP	ENST00000239849.6	37	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504292	0.26949	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0209	0.89254	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFSF11	42073018	1.000000	0.71417	0.895000	0.35142	0.025000	0.11179	6.290000	0.72712	2.763000	0.94921	0.563000	0.77884	.		0.453	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2		Intron
PHF11	51131	broad.mit.edu	37	13	50095021	50095021	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:50095021A>C	ENST00000378319.3	+	5	499				PHF11_ENST00000357596.3_Intron|PHF11_ENST00000488958.1_Intron	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(1)		large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TTGAAATTAAATATTTCAGAC	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						31.0	34.0	33.0					13																	50095021		2203	4299	6502	48993022	SO:0001627	intron_variant	51131	.			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.459-9A>C	13.37:g.50095021A>C		Somatic		Capture	Illumina HiSeq	Phase_I	48993022	.	Q5W0A4|Q5W0A6|Q9Y5A2	Intron	SNP	ENST00000378319.3	37	CCDS31975.1																																																																																				0.313	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119	
INTS6	26512	broad.mit.edu	37	13	51939885	51939885	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:51939885C>A	ENST00000311234.4	-	0	3139				INTS6_ENST00000398119.2_3'UTR|INTS6_ENST00000425000.1_3'UTR|RP11-24B19.3_ENST00000602636.1_RNA|INTS6_ENST00000490542.1_3'UTR|INTS6_ENST00000497989.1_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6						signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTCTATTTTCTTTTAATTGC	0.328																																					.												.	.	0			.	13						.						74.0	74.0	74.0					13																	51939885		2198	4289	6487	50837886	SO:0001624	3_prime_UTR_variant	26512	.			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.*3G>T	13.37:g.51939885C>A		Somatic		Capture	Illumina HiSeq	Phase_I	50837886	.	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	3'UTR	SNP	ENST00000311234.4	37	CCDS9428.1																																																																																				0.328	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
ATP7B	540	broad.mit.edu	37	13	52549311	52549311	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:52549311A>C	ENST00000242839.4	-	2	208				ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_5'Flank|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide						cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGATCTAAAAAGAAAAGAAAT	0.388									Wilson disease																												.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						56.0	55.0	55.0					13																	52549311		1830	4085	5915	51447312	SO:0001627	intron_variant	540	.	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.52-7T>G	13.37:g.52549311A>C		Somatic		Capture	Illumina HiSeq	Phase_I	51447312	.	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Intron	SNP	ENST00000242839.4	37	CCDS41892.1																																																																																				0.388	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
TBC1D4	9882	broad.mit.edu	37	13	75866419	75866419	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:75866419G>T	ENST00000377636.3	-	19	3663				TBC1D4_ENST00000431480.2_Intron|TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000478591.1_5'Flank|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4						cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TAAAAGAAGAGATATAATTTT	0.333																																					.												.	.	0			.	13						.						30.0	29.0	30.0					13																	75866419		1802	4069	5871	74764420	SO:0001627	intron_variant	9882	.			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3317-12C>A	13.37:g.75866419G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74764420	.	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Intron	SNP	ENST00000377636.3	37	CCDS41901.1																																																																																				0.333	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
DCT	1638	broad.mit.edu	37	13	95112334	95112334	+	Intron	SNP	T	T	G	rs373770110		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:95112334T>G	ENST00000377028.5	-	6	1593				DCT_ENST00000446125.1_Intron|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATTCTGAATCTTTGAACATAC	0.348																																					.												.	.	0			.	13						.						69.0	70.0	70.0					13																	95112334		2203	4300	6503	93910335	SO:0001627	intron_variant	1638	.			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1179+10A>C	13.37:g.95112334T>G		Somatic		Capture	Illumina HiSeq	Phase_I	93910335	.	Q09GT4	Intron	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				0.348	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DZIP1	22873	broad.mit.edu	37	13	96242702	96242702	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:96242702G>T	ENST00000376829.2	-	17	2532				DZIP1_ENST00000361396.2_Intron|DZIP1_ENST00000361156.3_Intron|DZIP1_ENST00000347108.3_Intron	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TATCCTGAAAGAATAAGATGT	0.383																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	13						.						106.0	98.0	101.0					13																	96242702		2203	4300	6503	95040703	SO:0001627	intron_variant	22873	.			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1681-7C>A	13.37:g.96242702G>T		Somatic		Capture	Illumina HiSeq	Phase_I	95040703	.	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Intron	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.383	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
TM9SF2	9375	broad.mit.edu	37	13	100214936	100214936	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:100214936C>T	ENST00000376387.4	+	17	2114					NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2						transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.?(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTTATTTTTTCTCTTATAGGA	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						67.0	73.0	71.0					13																	100214936		2203	4300	6503	99012937	SO:0001627	intron_variant	9375	.			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1925-9C>T	13.37:g.100214936C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99012937	.	A8K399|Q2TAY5	Intron	SNP	ENST00000376387.4	37	CCDS9493.1																																																																																				0.328	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		
TMCO3	55002	broad.mit.edu	37	13	114164546	114164546	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr13:114164546C>T	ENST00000434316.2	+	7	1397				TMCO3_ENST00000474393.1_Intron|TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.?(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTGTGTTCTCTTTAAGGTGT	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.						174.0	156.0	162.0					13																	114164546		2203	4300	6503	113212547	SO:0001627	intron_variant	55002	.			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1039-7C>T	13.37:g.114164546C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113212547	.	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Intron	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																				0.478	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
RTL1	388015	broad.mit.edu	37	14	101348319	101348319	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:101348319C>T	ENST00000534062.1	-	1	2865	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	936					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.R936H(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCAGGTAGCGGCACCACAC	0.532																																					p.R936H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G2807A	14						.						61.0	60.0	60.0					14																	101348319		1568	3582	5150	100418072	SO:0001583	missense	406914	exon1				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2807G>A	14.37:g.101348319C>T	ENSP00000435342:p.Arg936His	Somatic		Capture	Illumina HiSeq	Phase_I	100418072	NM_001134888	E9PKS8	5'Flank	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125088	0.37533	.	.	ENSG00000254656	ENST00000534062	T	0.39406	1.08	3.39	3.39	0.38822	.	0.233121	0.22485	N	0.059444	T	0.15522	0.0374	N	0.17082	0.46	0.29017	N	0.886531	P	0.39181	0.663	B	0.26310	0.068	T	0.22243	-1.0222	10	0.02654	T	1	.	6.746	0.23462	0.0:0.8747:0.0:0.1253	.	936	E9PKS8	.	H	936	ENSP00000435342:R936H	ENSP00000435342:R936H	R	-	2	0	RTL1	100418072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.300000	0.51834	2.210000	0.71456	0.555000	0.69702	CGC		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
DYNC1H1	1778	broad.mit.edu	37	14	102483493	102483493	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102483493C>T	ENST00000360184.4	+	39	8081	c.7917C>T	c.(7915-7917)tgC>tgT	p.C2639C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2639	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.C2639C(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCACTACTGCGAGTACAGGC	0.473																																					p.C2639C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7917T	14						.						149.0	140.0	143.0					14																	102483493		2203	4300	6503	101553246	SO:0001819	synonymous_variant	1778	exon39			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7917C>T	14.37:g.102483493C>T		Somatic		Capture	Illumina HiSeq	Phase_I	101553246	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
HSP90AA1	3320	broad.mit.edu	37	14	102550226	102550226	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102550226C>A	ENST00000216281.8	-	7	1447	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K235N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.K536N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	414					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.K536N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TGACCAAATTCTTCCTGATAA	0.373																																					p.K414N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1242T	14						.						47.0	50.0	49.0					14																	102550226		2203	4300	6503	101619979	SO:0001583	missense	3320	exon7			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1242G>T	14.37:g.102550226C>A	ENSP00000216281:p.Lys414Asn	Somatic		Capture	Illumina HiSeq	Phase_I	101619979	NM_005348	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	N	18.49	3.636157	0.67130	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.13901	2.55;2.55;2.55	3.91	2.05	0.26809	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	U	0.000000	T	0.38214	0.1032	M	0.87682	2.9	0.58432	D	0.999997	D;D;D	0.89917	0.96;1.0;1.0	P;D;D	0.87578	0.655;0.997;0.998	T	0.18493	-1.0335	10	0.87932	D	0	.	9.4921	0.38967	0.0:0.8209:0.0:0.1791	.	235;536;414	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	414;536;235	ENSP00000216281:K414N;ENSP00000335153:K536N;ENSP00000396189:K235N	ENSP00000216281:K414N	K	-	3	2	HSP90AA1	101619979	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	2.957000	0.49137	0.274000	0.22072	0.555000	0.69702	AAG		0.373	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
MOK	5891	broad.mit.edu	37	14	102698927	102698927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102698927C>T	ENST00000361847.2	-	9	1042	c.811G>A	c.(811-813)Gat>Aat	p.D271N	MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000193029.6_Missense_Mutation_p.D37N|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D271N(1)									ATTCTCTCATCGGGATCATAG	0.542																																					p.D271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	14						.						151.0	152.0	152.0					14																	102698927		2203	4300	6503	101768680	SO:0001583	missense	5891	exon9			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.811G>A	14.37:g.102698927C>T	ENSP00000355304:p.Asp271Asn	Somatic		Capture	Illumina HiSeq	Phase_I	101768680	NM_014226	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160933	0.57368	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.64803	0.96;-0.12;-0.12;-0.12	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053829	0.64402	D	0.000001	T	0.51007	0.1649	N	0.04148	-0.265	0.47949	D	0.999553	D;D	0.56746	0.977;0.977	P;P	0.51777	0.679;0.679	T	0.61182	-0.7114	10	0.56958	D	0.05	.	14.5893	0.68351	0.0:0.9279:0.0:0.0721	.	241;271	E7ERR8;Q9UQ07	.;MOK_HUMAN	N	37;270;271;241	ENSP00000193029:D37N;ENSP00000429469:D270N;ENSP00000355304:D271N;ENSP00000428942:D241N	ENSP00000193029:D37N	D	-	1	0	RAGE	101768680	0.989000	0.36119	0.127000	0.21898	0.920000	0.55202	3.475000	0.53136	2.590000	0.87494	0.462000	0.41574	GAT		0.542	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3		
CINP	51550	broad.mit.edu	37	14	102825777	102825777	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102825777G>A	ENST00000216756.6	-	2	195	c.155C>T	c.(154-156)gCc>gTc	p.A52V	snoU13_ENST00000458912.1_RNA|CINP_ENST00000541568.2_Missense_Mutation_p.A52V|CINP_ENST00000536961.2_Missense_Mutation_p.A67V	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	52					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)		p.A52V(1)		large_intestine(2)|lung(2)	4						TTTCAAGTTGGCAATATTATT	0.328																																					p.A52V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155T	14						.						92.0	88.0	89.0					14																	102825777		2203	4300	6503	101895530	SO:0001583	missense	51550	exon2			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.155C>T	14.37:g.102825777G>A	ENSP00000216756:p.Ala52Val	Somatic		Capture	Illumina HiSeq	Phase_I	101895530	NM_001177612	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445681	0.25987	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.39997	1.08;1.05	5.24	3.3	0.37823	.	0.111363	0.64402	D	0.000012	T	0.21468	0.0517	N	0.24115	0.695	0.33947	D	0.644018	B	0.17667	0.023	B	0.18561	0.022	T	0.17410	-1.0370	10	0.15066	T	0.55	-14.8861	3.2645	0.06860	0.2566:0.2768:0.4666:0.0	.	52	Q9BW66	CINP_HUMAN	V	52;67;52	ENSP00000216756:A52V;ENSP00000442057:A67V	ENSP00000216756:A52V	A	-	2	0	CINP	101895530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.986000	0.56937	2.424000	0.82194	0.609000	0.83330	GCC		0.328	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630	
TECPR2	9895	broad.mit.edu	37	14	102900991	102900991	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102900991T>G	ENST00000359520.7	+	9	2063	c.1837T>G	c.(1837-1839)Tta>Gta	p.L613V	TECPR2_ENST00000558678.1_Missense_Mutation_p.L613V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	613					autophagy (GO:0006914)|cell death (GO:0008219)			p.L613V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TAGCACACAGTTACCCTTCCA	0.557																																					p.L613V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1837G	14						.						87.0	59.0	68.0					14																	102900991		2203	4300	6503	101970744	SO:0001583	missense	9895	exon9			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1837T>G	14.37:g.102900991T>G	ENSP00000352510:p.Leu613Val	Somatic		Capture	Illumina HiSeq	Phase_I	101970744	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	T	9.736	1.163705	0.21538	.	.	ENSG00000196663	ENST00000359520	T	0.13901	2.55	4.99	2.61	0.31194	.	1.953080	0.02476	N	0.088019	T	0.09774	0.0240	N	0.19112	0.55	0.09310	N	1	B;B	0.20887	0.043;0.049	B;B	0.22601	0.04;0.024	T	0.30446	-0.9978	9	.	.	.	.	3.0324	0.06111	0.1776:0.231:0.0:0.5913	.	613;613	A5PKY3;O15040	.;TCPR2_HUMAN	V	613	ENSP00000352510:L613V	.	L	+	1	2	TECPR2	101970744	0.000000	0.05858	0.003000	0.11579	0.245000	0.25701	0.125000	0.15749	0.261000	0.21753	-1.119000	0.02030	TTA		0.557	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
TECPR2	9895	broad.mit.edu	37	14	102904454	102904454	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:102904454C>T	ENST00000359520.7	+	10	2716	c.2490C>T	c.(2488-2490)ggC>ggT	p.G830G	TECPR2_ENST00000558678.1_Silent_p.G830G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	830					autophagy (GO:0006914)|cell death (GO:0008219)			p.G830G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACTACAAAGGCGGCCTGTTCT	0.612											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G830G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2490T	14						.						104.0	107.0	106.0					14																	102904454		2203	4300	6503	101974207	SO:0001819	synonymous_variant	9895	exon10			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2490C>T	14.37:g.102904454C>T		Somatic	1370	Capture	Illumina HiSeq	Phase_I	101974207	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																				0.612	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
MARK3	4140	broad.mit.edu	37	14	103932006	103932006	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:103932006A>G	ENST00000429436.2	+	8	1163	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	MARK3_ENST00000216288.7_Missense_Mutation_p.Y218C|MARK3_ENST00000335102.5_Missense_Mutation_p.Y241C|MARK3_ENST00000553942.1_Missense_Mutation_p.Y218C|MARK3_ENST00000416682.2_Missense_Mutation_p.Y241C|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Missense_Mutation_p.Y218C	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y218C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTCCTCCATACGCAGCACCT	0.453																																					p.Y218C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A653G	14						.						96.0	98.0	97.0					14																	103932006		2018	4200	6218	103001759	SO:0001583	missense	4140	exon8			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.653A>G	14.37:g.103932006A>G	ENSP00000411397:p.Tyr218Cys	Somatic		Capture	Illumina HiSeq	Phase_I	103001759	NM_001128919	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505111	0.85282	.	.	ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25	5.64	5.64	0.86602	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	0.81235	0.4780	M	0.91768	3.24	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.85792	0.1368	10	0.87932	D	0	.	15.86	0.79014	1.0:0.0:0.0:0.0	.	241;241;218;218;218;218	P27448-7;P27448-2;P27448-6;P27448;P27448-4;P27448-3	.;.;.;MARK3_HUMAN;.;.	C	241;241;218;218;218;218	ENSP00000335347:Y241C;ENSP00000408092:Y241C;ENSP00000411397:Y218C;ENSP00000303698:Y218C;ENSP00000216288:Y218C;ENSP00000450772:Y218C	ENSP00000216288:Y218C	Y	+	2	0	MARK3	103001759	1.000000	0.71417	0.812000	0.32479	0.943000	0.58893	9.281000	0.95811	2.135000	0.66039	0.528000	0.53228	TAC		0.453	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
PPP1R13B	23368	broad.mit.edu	37	14	104216245	104216245	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:104216245T>G	ENST00000202556.9	-	8	1137	c.855A>C	c.(853-855)caA>caC	p.Q285H		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	285	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q285H(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTTTTGAATTTTGTTCCTGGT	0.383																																					p.Q285H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A855C	14						.						135.0	124.0	128.0					14																	104216245		1864	4107	5971	103285998	SO:0001583	missense	23368	exon8			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.855A>C	14.37:g.104216245T>G	ENSP00000202556:p.Gln285His	Somatic		Capture	Illumina HiSeq	Phase_I	103285998	NM_015316	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804632	0.70682	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.35421	1.31	6.17	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.60012	0.867	T	0.53457	-0.8436	10	0.87932	D	0	.	9.5869	0.39521	0.0:0.7579:0.0:0.2421	.	285	Q96KQ4	ASPP1_HUMAN	H	285;152	ENSP00000202556:Q285H	ENSP00000202556:Q285H	Q	-	3	2	PPP1R13B	103285998	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.564000	0.45931	0.480000	0.27534	-0.912000	0.02778	CAA		0.383	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
PPP1R13B	23368	broad.mit.edu	37	14	104245134	104245134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:104245134C>T	ENST00000202556.9	-	4	584	c.302G>A	c.(301-303)cGa>cAa	p.R101Q		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	101					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R101Q(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCTGAGTTCGTTGCTCTTG	0.348																																					p.R101Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	14						.						147.0	136.0	140.0					14																	104245134		1832	4098	5930	103314887	SO:0001583	missense	23368	exon4			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.302G>A	14.37:g.104245134C>T	ENSP00000202556:p.Arg101Gln	Somatic		Capture	Illumina HiSeq	Phase_I	103314887	NM_015316	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586115	0.66105	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	D;D	0.85088	-1.94;-1.94	5.69	5.69	0.88448	.	0.155706	0.56097	D	0.000029	T	0.78929	0.4361	L	0.39898	1.24	0.80722	D	1	B	0.30439	0.279	B	0.27608	0.081	T	0.73978	-0.3812	10	0.19147	T	0.46	.	15.6714	0.77279	0.0:1.0:0.0:0.0	.	101	Q96KQ4	ASPP1_HUMAN	Q	101;98;130	ENSP00000202556:R101Q;ENSP00000452376:R98Q	ENSP00000202556:R101Q	R	-	2	0	PPP1R13B	103314887	0.133000	0.22466	0.926000	0.36857	0.999000	0.98932	1.672000	0.37523	2.840000	0.97914	0.655000	0.94253	CGA		0.348	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
TDRD9	122402	broad.mit.edu	37	14	104481097	104481097	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:104481097C>A	ENST00000409874.4	+	21	2190	c.2142C>A	c.(2140-2142)atC>atA	p.I714I	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Silent_p.I714I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	714					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I714I(1)|p.I429I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGACTAGAATCTCACAGTTCA	0.393																																					p.I714I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2142A	14						.						146.0	144.0	145.0					14																	104481097		2203	4300	6503	103550850	SO:0001819	synonymous_variant	122402	exon21			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2142C>A	14.37:g.104481097C>A		Somatic		Capture	Illumina HiSeq	Phase_I	103550850	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767918	0.15983	.	.	ENSG00000156414	ENST00000557332	.	.	.	5.09	4.19	0.49359	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53236	-0.8467	4	.	.	.	.	6.8947	0.24249	0.0:0.7023:0.1482:0.1495	.	.	.	.	I	441	.	.	L	+	1	0	TDRD9	103550850	0.879000	0.30193	0.117000	0.21633	0.903000	0.53119	1.164000	0.31810	1.260000	0.44134	0.563000	0.77884	CTC		0.393	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
AHNAK2	113146	broad.mit.edu	37	14	105410390	105410390	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:105410390C>A	ENST00000333244.5	-	7	11517	c.11398G>T	c.(11398-11400)Gac>Tac	p.D3800Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3800						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3800Y(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATTTGCTGTCTTTGGCAGTC	0.587																																					p.D3800Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11398T	14						.						244.0	242.0	243.0					14																	105410390		1993	4154	6147	104481435	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11398G>T	14.37:g.105410390C>A	ENSP00000353114:p.Asp3800Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	104481435	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.593258	0.28357	.	.	ENSG00000185567	ENST00000333244	T	0.02345	4.33	4.53	3.61	0.41365	.	1.393240	0.05624	U	0.580469	T	0.10465	0.0256	M	0.80616	2.505	0.23371	N	0.997814	D	0.56035	0.974	P	0.51135	0.66	T	0.22730	-1.0208	10	0.87932	D	0	.	6.7864	0.23675	0.1768:0.7329:0.0:0.0903	.	3800	Q8IVF2	AHNK2_HUMAN	Y	3800	ENSP00000353114:D3800Y	ENSP00000353114:D3800Y	D	-	1	0	AHNAK2	104481435	0.000000	0.05858	0.270000	0.24601	0.126000	0.20510	1.095000	0.30964	0.844000	0.35094	0.485000	0.47835	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105411137	105411137	+	Missense_Mutation	SNP	C	C	T	rs199591478		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:105411137C>T	ENST00000333244.5	-	7	10770	c.10651G>A	c.(10651-10653)Ggc>Agc	p.G3551S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3551						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3551S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTTGAGGCCGGCTCCCTCG	0.622																																					p.G3551S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10651A	14						.	C	SER/GLY	0,3710		0,0,1855	93.0	102.0	99.0		10651	-1.9	0.0	14		99	1,8181		0,1,4090	no	missense	AHNAK2	NM_138420.2	56	0,1,5945	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	3551/5796	105411137	1,11891	1855	4091	5946	104482182	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10651G>A	14.37:g.105411137C>T	ENSP00000353114:p.Gly3551Ser	Somatic		Capture	Illumina HiSeq	Phase_I	104482182	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.780258	0.31502	0.0	1.22E-4	ENSG00000185567	ENST00000333244	T	0.01527	4.8	3.73	-1.86	0.07760	.	.	.	.	.	T	0.01061	0.0035	L	0.31804	0.96	0.09310	N	1	P	0.36465	0.554	B	0.24394	0.053	T	0.49093	-0.8975	9	0.12103	T	0.63	.	5.1011	0.14760	0.1001:0.6861:0.1005:0.1132	.	3551	Q8IVF2	AHNK2_HUMAN	S	3551	ENSP00000353114:G3551S	ENSP00000353114:G3551S	G	-	1	0	AHNAK2	104482182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.117000	0.03283	-1.488000	0.01847	-1.021000	0.02439	GGC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105415452	105415452	+	Silent	SNP	G	G	A	rs138410711	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:105415452G>A	ENST00000333244.5	-	7	6455	c.6336C>T	c.(6334-6336)gtC>gtT	p.V2112V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2112						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V2112V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACACCTCGACATCGGGGA	0.602													.|||	3	0.000599042	0.0	0.0	5008	,	,		14978	0.003		0.0	False		,,,				2504	0.0				p.V2112V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6336T	14						.						142.0	98.0	116.0					14																	105415452		1917	2917	4834	104486497	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6336C>T	14.37:g.105415452G>A		Somatic		Capture	Illumina HiSeq	Phase_I	104486497	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105415767	105415767	+	Silent	SNP	G	G	A	rs181281645	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:105415767G>A	ENST00000333244.5	-	7	6140	c.6021C>T	c.(6019-6021)atC>atT	p.I2007I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2007						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.I2007I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAGGCCTCGATGGACCTCC	0.602																																					p.I2007I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6021T	14						.						156.0	143.0	147.0					14																	105415767		1928	4070	5998	104486812	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6021C>T	14.37:g.105415767G>A		Somatic		Capture	Illumina HiSeq	Phase_I	104486812	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
POTEG	404785	broad.mit.edu	37	14	19563489	19563489	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:19563489G>T	ENST00000409832.3	+	5	1055	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	335								p.D335Y(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATCTTCTCAAGATCTATCTGG	0.373																																					p.D335Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003T	14						.						51.0	85.0	74.0					14																	19563489		1089	2332	3421	18633489	SO:0001583	missense	404785	exon5				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1003G>T	14.37:g.19563489G>T	ENSP00000386971:p.Asp335Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	18633489	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	10.13	1.264847	0.23136	.	.	ENSG00000222036	ENST00000409832	T	0.60672	0.17	1.09	1.09	0.20402	Ankyrin repeat-containing domain (4);	0.000000	0.37136	U	0.002224	T	0.78591	0.4307	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65730	-0.6097	10	0.87932	D	0	.	5.6033	0.17365	0.0:0.0:1.0:0.0	.	335	Q6S5H5	POTEG_HUMAN	Y	335	ENSP00000386971:D335Y	ENSP00000386971:D335Y	D	+	1	0	POTEG	18633489	0.837000	0.29446	0.015000	0.15790	0.043000	0.13939	2.843000	0.48238	0.912000	0.36772	0.184000	0.17185	GAT		0.373	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
POTEG	404785	broad.mit.edu	37	14	19574229	19574229	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:19574229T>C	ENST00000409832.3	+	9	1338	c.1286T>C	c.(1285-1287)tTc>tCc	p.F429S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	429								p.F429S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CATATGGGATTCCCAGAAAAC	0.393																																					p.F429S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1286C	14						.						1.0	1.0	1.0					14																	19574229		268	616	884	18644229	SO:0001583	missense	404785	exon9				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1286T>C	14.37:g.19574229T>C	ENSP00000386971:p.Phe429Ser	Somatic		Capture	Illumina HiSeq	Phase_I	18644229	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	T	9.133	1.011990	0.19277	.	.	ENSG00000222036	ENST00000409832	T	0.25579	1.79	1.58	-1.25	0.09405	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35201	-0.9798	9	0.16896	T	0.51	.	2.3122	0.04189	0.0:0.2079:0.3092:0.4829	.	429	Q6S5H5	POTEG_HUMAN	S	429	ENSP00000386971:F429S	ENSP00000386971:F429S	F	+	2	0	POTEG	18644229	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.022000	0.03611	-0.313000	0.08728	0.155000	0.16302	TTC		0.393	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
OR4M1	441670	broad.mit.edu	37	14	20248810	20248810	+	Missense_Mutation	SNP	C	C	T	rs368981146		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20248810C>T	ENST00000315957.4	+	1	410	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478													.|||	1	0.000199681	0.0008	0.0	5008	,	,		28220	0.0		0.0	False		,,,				2504	0.0				p.S110L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329T	14						.		LEU/SER	1,4405		0,1,2202	229.0	244.0	239.0		329	4.2	0.9	14		239	1,8599		0,1,4299	no	missense	OR4M1	NM_001005500.1	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	110/314	20248810	2,13004	2203	4300	6503	19318650	SO:0001583	missense	441670	exon1				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.329C>T	14.37:g.20248810C>T	ENSP00000319654:p.Ser110Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19318650	NM_001005500	B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425412	0.43020	2.27E-4	1.16E-4	ENSG00000176299	ENST00000315957	T	0.00902	5.56	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000951	T	0.01029	0.0034	L	0.39085	1.19	0.09310	N	1	D	0.53745	0.962	B	0.36719	0.231	T	0.56232	-0.8013	10	0.87932	D	0	-7.6296	14.4139	0.67135	0.0:1.0:0.0:0.0	.	110	Q8NGD0	OR4M1_HUMAN	L	110	ENSP00000319654:S110L	ENSP00000319654:S110L	S	+	2	0	OR4M1	19318650	0.000000	0.05858	0.930000	0.37139	0.921000	0.55340	1.180000	0.32005	2.338000	0.79540	0.401000	0.26515	TCG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
OR4K15	81127	broad.mit.edu	37	14	20444089	20444089	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20444089C>T	ENST00000305051.5	+	1	487	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L138F(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAAATGGTGCTCCTAGTTTC	0.458																																					p.L138F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412T	14						.						133.0	133.0	133.0					14																	20444089		2203	4296	6499	19513929	SO:0001583	missense	81127	exon1				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.412C>T	14.37:g.20444089C>T	ENSP00000304077:p.Leu138Phe	Somatic		Capture	Illumina HiSeq	Phase_I	19513929	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.616382	0.28801	.	.	ENSG00000169488	ENST00000305051	T	0.00590	6.36	3.8	0.401	0.16338	GPCR, rhodopsin-like superfamily (1);	0.665359	0.13094	N	0.414327	T	0.01156	0.0038	M	0.86502	2.82	0.09310	N	1	B	0.30193	0.272	B	0.33042	0.157	T	0.27088	-1.0084	10	0.62326	D	0.03	.	7.2063	0.25909	0.5886:0.2661:0.1453:0.0	.	138	Q8NH41	OR4KF_HUMAN	F	138	ENSP00000304077:L138F	ENSP00000304077:L138F	L	+	1	0	OR4K15	19513929	0.000000	0.05858	0.931000	0.37212	0.986000	0.74619	-2.721000	0.00811	-0.178000	0.10672	0.585000	0.79938	CTC		0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
OR4L1	122742	broad.mit.edu	37	14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGATAATTGGTTTTTTACAC	0.403																																					p.G152V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455T	14						.						143.0	134.0	137.0					14																	20528658		2203	4300	6503	19598498	SO:0001583	missense	122742	exon1				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.455G>T	14.37:g.20528658G>T	ENSP00000319217:p.Gly152Val	Somatic		Capture	Illumina HiSeq	Phase_I	19598498	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355282	0.24512	.	.	ENSG00000176246	ENST00000315683	T	0.39056	1.1	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.73024	0.3534	H	0.94847	3.59	0.21256	N	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.87932	D	0	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	152	Q8NH43	OR4L1_HUMAN	V	152	ENSP00000319217:G152V	ENSP00000319217:G152V	G	+	2	0	OR4L1	19598498	0.996000	0.38824	0.615000	0.29064	0.091000	0.18340	4.483000	0.60264	2.423000	0.82170	0.650000	0.86243	GGT		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1		
OR4K17	390436	broad.mit.edu	37	14	20585882	20585882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20585882C>A	ENST00000315543.4	+	1	317	c.317C>A	c.(316-318)tCt>tAt	p.S106Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S106Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCCTTGCTTCTTTTGCCACC	0.388																																					p.S106Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C317A	14						.						170.0	178.0	175.0					14																	20585882		2203	4300	6503	19655722	SO:0001583	missense	390436	exon1				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.317C>A	14.37:g.20585882C>A	ENSP00000319197:p.Ser106Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	19655722	NM_001004715	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436047	0.25813	.	.	ENSG00000176230	ENST00000315543	T	0.00408	7.54	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.258156	0.19913	U	0.103248	T	0.00845	0.0028	H	0.98646	4.29	0.27192	N	0.960395	P	0.35542	0.508	B	0.34418	0.182	T	0.15263	-1.0443	10	0.87932	D	0	.	8.8842	0.35394	0.0:0.8788:0.0:0.1212	.	78	Q8NGC6	OR4KH_HUMAN	Y	106	ENSP00000319197:S106Y	ENSP00000319197:S106Y	S	+	2	0	OR4K17	19655722	0.285000	0.24296	0.991000	0.47740	0.358000	0.29455	3.815000	0.55651	0.510000	0.28216	0.404000	0.27445	TCT		0.388	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
OR4K17	390436	broad.mit.edu	37	14	20586509	20586509	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20586509C>A	ENST00000315543.4	+	1	944	c.944C>A	c.(943-945)cCa>cAa	p.P315Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P315Q(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTTGAATCCAATTATCTAT	0.348																																					p.P315Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C944A	14						.						59.0	56.0	57.0					14																	20586509		2203	4299	6502	19656349	SO:0001583	missense	390436	exon1				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.944C>A	14.37:g.20586509C>A	ENSP00000319197:p.Pro315Gln	Somatic		Capture	Illumina HiSeq	Phase_I	19656349	NM_001004715	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.882681	0.51908	.	.	ENSG00000176230	ENST00000315543	T	0.64260	-0.09	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004460	D	0.83119	0.5185	H	0.95043	3.615	0.29670	N	0.842516	D	0.89917	1.0	D	0.76575	0.988	T	0.81295	-0.0997	10	0.87932	D	0	.	12.3694	0.55246	0.0:1.0:0.0:0.0	.	287	Q8NGC6	OR4KH_HUMAN	Q	315	ENSP00000319197:P315Q	ENSP00000319197:P315Q	P	+	2	0	OR4K17	19656349	0.995000	0.38212	1.000000	0.80357	0.922000	0.55478	3.530000	0.53539	1.452000	0.47756	0.404000	0.27445	CCA		0.348	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
PARP2	10038	broad.mit.edu	37	14	20823033	20823033	+	Missense_Mutation	SNP	C	C	T	rs140156644	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:20823033C>T	ENST00000250416.5	+	9	895	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	PARP2_ENST00000429687.3_Missense_Mutation_p.R277W|PARP2_ENST00000527915.1_Missense_Mutation_p.R290W	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	290	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R241W(1)|p.R290W(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GGATTGTATTCGGGCTGGCCA	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C|||	3	0.000599042	0.0	0.0	5008	,	,		17745	0.003		0.0	False		,,,				2504	0.0				p.R277W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C829T	14						.	C	TRP/ARG,TRP/ARG	2,3964		0,2,1981	151.0	150.0	150.0		829,868	3.8	1.0	14	dbSNP_134	150	0,8356		0,0,4178	yes	missense,missense	PARP2	NM_001042618.1,NM_005484.3	101,101	0,2,6159	TT,TC,CC		0.0,0.0504,0.0162	probably-damaging,probably-damaging	277/571,290/584	20823033	2,12320	1983	4178	6161	19892873	SO:0001583	missense	10038	exon9			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.868C>T	14.37:g.20823033C>T	ENSP00000250416:p.Arg290Trp	Somatic		Capture	Illumina HiSeq	Phase_I	19892873	NM_001042618	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	CCDS41910.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	20.5	3.993435	0.74703	5.04E-4	0.0	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.14640	2.49;2.49;2.49	4.67	3.78	0.43462	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.151866	0.45361	D	0.000376	T	0.13329	0.0323	L	0.29908	0.895	0.47123	D	0.999321	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.56563	0.801;0.728;0.801	T	0.01068	-1.1462	10	0.87932	D	0	-1.5579	10.9005	0.47049	0.4609:0.5391:0.0:0.0	.	203;277;290	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	W	277;290;290	ENSP00000392972:R277W;ENSP00000250416:R290W;ENSP00000432283:R290W	ENSP00000250416:R290W	R	+	1	2	PARP2	19892873	0.834000	0.29399	0.985000	0.45067	0.997000	0.91878	0.964000	0.29306	1.305000	0.44909	0.655000	0.94253	CGG		0.498	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2		
RNASE11	122651	broad.mit.edu	37	14	21052465	21052465	+	Missense_Mutation	SNP	G	G	T	rs140783651		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21052465G>T	ENST00000610205.1	-	3	352	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	RNASE11_ENST00000432835.2_Missense_Mutation_p.L57M|RNASE11_ENST00000555841.1_Missense_Mutation_p.L57M|RNASE11_ENST00000398008.2_Missense_Mutation_p.L57M|RNASE11_ENST00000398009.2_Missense_Mutation_p.L57M|RNASE11_ENST00000553849.1_Missense_Mutation_p.L57M	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	57						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.L57M(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TTAACTAACAGGATCGGGTTC	0.368																																					p.L57M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169A	14						.						217.0	205.0	209.0					14																	21052465		2203	4300	6503	20122305	SO:0001583	missense	122651	exon3			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.169C>A	14.37:g.21052465G>T	ENSP00000476537:p.Leu57Met	Somatic		Capture	Illumina HiSeq	Phase_I	20122305	NM_145250		Missense_Mutation	SNP	ENST00000610205.1	37	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	2.952	-0.216508	0.06101	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.39;0.39;0.43;0.65;0.66	4.09	1.01	0.19927	.	1.200490	0.06642	N	0.761302	T	0.40979	0.1139	L	0.27053	0.805	0.09310	N	1	P	0.45768	0.866	B	0.40534	0.332	T	0.31806	-0.9930	10	0.52906	T	0.07	-21.0843	2.6858	0.05107	0.1047:0.1831:0.5237:0.1885	.	57	Q8TAA1	RNS11_HUMAN	M	57	ENSP00000338288:L57M;ENSP00000451318:L57M;ENSP00000451563:L57M;ENSP00000381093:L57M;ENSP00000381092:L57M;ENSP00000395210:L57M;ENSP00000401398:L57M;ENSP00000451839:L57M;ENSP00000452412:L57M;ENSP00000415954:L57M;ENSP00000451466:L57M	ENSP00000338288:L57M	L	-	1	2	RNASE11	20122305	0.005000	0.15991	0.015000	0.15790	0.038000	0.13279	0.142000	0.16096	0.214000	0.20742	0.511000	0.50034	CTG		0.368	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
RNASE6	6039	broad.mit.edu	37	14	21250230	21250230	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21250230C>A	ENST00000304677.2	+	2	665	c.372C>A	c.(370-372)ttC>ttA	p.F124L	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	124					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.F124L(1)		large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGTACAAATTCTTCATTGTTG	0.498																																					p.F124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C372A	14						.						143.0	140.0	141.0					14																	21250230		2203	4300	6503	20320070	SO:0001583	missense	6039	exon2			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.372C>A	14.37:g.21250230C>A	ENSP00000302046:p.Phe124Leu	Somatic		Capture	Illumina HiSeq	Phase_I	20320070	NM_005615		Missense_Mutation	SNP	ENST00000304677.2	37	CCDS9558.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016108	0.19355	.	.	ENSG00000169413	ENST00000304677	T	0.72725	-0.68	4.94	2.02	0.26589	Ribonuclease A, domain (4);	0.394047	0.26007	N	0.026915	T	0.57681	0.2070	L	0.58810	1.83	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.38067	-0.9678	10	0.18276	T	0.48	-5.1735	3.7541	0.08578	0.1689:0.5777:0.1633:0.0901	.	124	Q93091	RNAS6_HUMAN	L	124	ENSP00000302046:F124L	ENSP00000302046:F124L	F	+	3	2	RNASE6	20320070	0.548000	0.26473	0.054000	0.19295	0.183000	0.23260	0.994000	0.29693	0.329000	0.23460	-0.188000	0.12872	TTC		0.498	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2		
RNASE3	6037	broad.mit.edu	37	14	21359864	21359864	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21359864A>G	ENST00000304639.3	+	2	77	c.19A>G	c.(19-21)Act>Gct	p.T7A		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	7					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.T7A(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AAAACTGTTCACTTCCCAAAT	0.488																																					p.T7A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A19G	14						.						109.0	125.0	120.0					14																	21359864		2191	4300	6491	20429704	SO:0001583	missense	6037	exon2			X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.19A>G	14.37:g.21359864A>G	ENSP00000302324:p.Thr7Ala	Somatic		Capture	Illumina HiSeq	Phase_I	20429704	NM_002935	Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	a	11.02	1.516251	0.27123	.	.	ENSG00000169397	ENST00000304639	T	0.06449	3.3	2.19	-2.22	0.06952	.	2.201430	0.02934	U	0.139606	T	0.07143	0.0181	N	0.22421	0.69	0.09310	N	1	P	0.49961	0.93	P	0.48627	0.584	T	0.25606	-1.0127	10	0.35671	T	0.21	.	6.3775	0.21515	0.5622:0.0:0.4378:0.0	.	7	P12724	ECP_HUMAN	A	7	ENSP00000302324:T7A	ENSP00000302324:T7A	T	+	1	0	RNASE3	20429704	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.401000	0.07232	-0.615000	0.05679	-0.463000	0.05309	ACT		0.488	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935	
RNASE8	122665	broad.mit.edu	37	14	21526238	21526238	+	Missense_Mutation	SNP	C	C	T	rs540758421	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21526238C>T	ENST00000308227.2	+	1	258	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	63					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.R63W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		GTACACAGAACGGTGCAAAGA	0.502													C|||	8	0.00159744	0.0	0.0	5008	,	,		22568	0.0		0.0	False		,,,				2504	0.0082				p.R63W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C187T	14						.						242.0	183.0	203.0					14																	21526238		2203	4300	6503	20596078	SO:0001583	missense	122665	exon1			AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"""Ribonucleases, RNase A"""	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.187C>T	14.37:g.21526238C>T	ENSP00000311398:p.Arg63Trp	Somatic		Capture	Illumina HiSeq	Phase_I	20596078	NM_138331	B2RPP6|B2RPP7	Missense_Mutation	SNP	ENST00000308227.2	37	CCDS9567.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865765	0.17250	.	.	ENSG00000173431	ENST00000308227	T	0.74526	-0.85	4.32	-3.72	0.04411	Ribonuclease A, domain (4);	0.886072	0.09567	N	0.784660	T	0.55289	0.1911	L	0.31752	0.955	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.36065	-0.9763	10	0.38643	T	0.18	-1.5358	3.6528	0.08210	0.3824:0.3119:0.0:0.3056	.	63	Q8TDE3	RNAS8_HUMAN	W	63	ENSP00000311398:R63W	ENSP00000311398:R63W	R	+	1	2	RNASE8	20596078	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.588000	0.05774	-1.015000	0.03375	-1.976000	0.00459	CGG		0.502	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073925.3	NM_138331	
OR5AU1	390445	broad.mit.edu	37	14	21623756	21623756	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21623756G>T	ENST00000304418.3	-	1	466	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I143I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAAAATAAGAGATCACTTTCC	0.517																																					p.I143I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429A	14						.						88.0	82.0	84.0					14																	21623756		2203	4300	6503	20693596	SO:0001819	synonymous_variant	390445	exon1			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.429C>A	14.37:g.21623756G>T		Somatic		Capture	Illumina HiSeq	Phase_I	20693596	NM_001004731	B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	CCDS32042.1																																																																																				0.517	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
RPGRIP1	57096	broad.mit.edu	37	14	21789492	21789492	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21789492G>T	ENST00000400017.2	+	12	1542	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E156D|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E487D|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E514D|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E487D	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	514					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E130D(1)|p.E514D(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACACGCAGAGACCACATTGG	0.448																																					p.E514D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1542T	14						.						127.0	115.0	119.0					14																	21789492		1937	4144	6081	20859332	SO:0001583	missense	57096	exon12			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1542G>T	14.37:g.21789492G>T	ENSP00000382895:p.Glu514Asp	Somatic		Capture	Illumina HiSeq	Phase_I	20859332	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660849	0.67700	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933	T;D;D;D;D	0.83163	-1.21;-1.69;-1.65;-1.66;-1.51	5.12	3.29	0.37713	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	D	0.87969	0.2735	10	0.52906	T	0.07	-26.2487	9.5604	0.39366	0.1726:0.0:0.8274:0.0	.	156;130;514	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	D	487;487;514;514;156	ENSP00000450445:E487D;ENSP00000451219:E487D;ENSP00000382895:E514D;ENSP00000206660:E514D;ENSP00000372391:E156D	ENSP00000206660:E514D	E	+	3	2	RPGRIP1	20859332	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	0.958000	0.29227	1.527000	0.49086	0.650000	0.86243	GAG		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21796629	21796629	+	Missense_Mutation	SNP	G	G	A	rs376213645		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21796629G>A	ENST00000400017.2	+	18	2942	c.2942G>A	c.(2941-2943)cGa>cAa	p.R981Q	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.R307Q|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R340Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R638Q|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R981Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R943Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	981					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.R597Q(1)|p.R981Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCCAGTATCGATCTAAGAGA	0.433																																					p.R981Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2942A	14						.	G	GLN/ARG	2,3678		0,2,1838	80.0	74.0	76.0		2942	0.9	0.0	14		76	0,8208		0,0,4104	no	missense	RPGRIP1	NM_020366.3	43	0,2,5942	AA,AG,GG		0.0,0.0543,0.0168	benign	981/1287	21796629	2,11886	1840	4104	5944	20866469	SO:0001583	missense	57096	exon18			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2942G>A	14.37:g.21796629G>A	ENSP00000382895:p.Arg981Gln	Somatic		Capture	Illumina HiSeq	Phase_I	20866469	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.300910	0.00243	5.43E-4	0.0	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.77620	-0.02;-0.79;-0.82;-0.82;-0.36;-1.11;-1.11	4.74	0.926	0.19430	.	1.299910	0.04944	N	0.459136	T	0.39436	0.1078	N	0.00162	-1.95	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.0	T	0.33929	-0.9849	10	0.15952	T	0.53	0.6336	5.5359	0.17011	0.5199:0.3853:0.0949:0.0	.	364;340;456;307;597;981	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	Q	638;943;981;981;307;456;340	ENSP00000450445:R638Q;ENSP00000451219:R943Q;ENSP00000382895:R981Q;ENSP00000206660:R981Q;ENSP00000372391:R307Q;ENSP00000451262:R456Q;ENSP00000309721:R340Q	ENSP00000206660:R981Q	R	+	2	0	RPGRIP1	20866469	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.101000	0.15251	0.005000	0.14708	-0.247000	0.11927	CGA		0.433	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
SUPT16H	11198	broad.mit.edu	37	14	21825477	21825477	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21825477G>A	ENST00000216297.2	-	22	2877	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	847					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R847W(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AACTGGACCCGCTCAAAGTGG	0.443																																					p.R847W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2539T	14						.						112.0	89.0	97.0					14																	21825477		2203	4300	6503	20895317	SO:0001583	missense	11198	exon22			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2539C>T	14.37:g.21825477G>A	ENSP00000216297:p.Arg847Trp	Somatic		Capture	Illumina HiSeq	Phase_I	20895317	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123621	0.77436	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	0.308	0.15815	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88725	0.3232	9	0.87932	D	0	-12.393	15.863	0.79040	0.0:0.0:0.2964:0.7036	.	847	Q9Y5B9	SP16H_HUMAN	W	847	.	ENSP00000216297:R847W	R	-	1	2	SUPT16H	20895317	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.299000	0.43611	0.118000	0.18165	0.655000	0.94253	CGG		0.443	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
CHD8	57680	broad.mit.edu	37	14	21873607	21873607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21873607G>A	ENST00000557364.1	-	16	3331	c.3068C>T	c.(3067-3069)gCc>gTc	p.A1023V	CHD8_ENST00000399982.2_Missense_Mutation_p.A1023V|CHD8_ENST00000430710.3_Missense_Mutation_p.A744V|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1023					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.A1023V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAAGAATGGCCTGTAGCTT	0.363																																					p.A744V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2231T	14						.						32.0	28.0	29.0					14																	21873607		1839	4095	5934	20943447	SO:0001583	missense	57680	exon16			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3068C>T	14.37:g.21873607G>A	ENSP00000451601:p.Ala1023Val	Somatic		Capture	Illumina HiSeq	Phase_I	20943447	NM_020920	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522843	0.64747	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.92965	-3.14;-3.14;-3.14	5.44	5.44	0.79542	SNF2-related (1);	0.053700	0.64402	D	0.000001	D	0.89989	0.6875	N	0.25957	0.775	0.80722	D	1	B;B	0.32128	0.236;0.357	B;B	0.41174	0.349;0.155	D	0.88705	0.3218	10	0.51188	T	0.08	-14.9181	18.1971	0.89826	0.0:0.0:1.0:0.0	.	1023;744	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	V	744;1023;743;1023	ENSP00000406288:A744V;ENSP00000382863:A1023V;ENSP00000451601:A1023V	ENSP00000262707:A743V	A	-	2	0	CHD8	20943447	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.543000	0.82106	2.832000	0.97577	0.655000	0.94253	GCC		0.363	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
TOX4	9878	broad.mit.edu	37	14	21963418	21963418	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21963418T>G	ENST00000405508.1	+	9	1948	c.1672T>G	c.(1672-1674)Ttg>Gtg	p.L558V	TOX4_ENST00000262709.3_Missense_Mutation_p.L558V|TOX4_ENST00000448790.2_Missense_Mutation_p.L535V			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	558						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.L558V(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGATGTTGAATTGGTGAGTGG	0.483																																					p.L558V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1672G	14						.						218.0	174.0	189.0					14																	21963418		2203	4300	6503	21033258	SO:0001583	missense	9878	exon8			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1672T>G	14.37:g.21963418T>G	ENSP00000385102:p.Leu558Val	Somatic		Capture	Illumina HiSeq	Phase_I	21033258	NM_014828	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099746	0.56183	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.11604	2.76;2.76;2.78	5.57	2.96	0.34315	.	0.630570	0.16077	N	0.230738	T	0.13329	0.0323	N	0.22421	0.69	0.36513	D	0.869724	P;P	0.52842	0.956;0.88	P;P	0.62184	0.899;0.899	T	0.30534	-0.9975	10	0.27785	T	0.31	.	5.0242	0.14376	0.0:0.3846:0.0:0.6154	.	535;558	B4DPY8;O94842	.;TOX4_HUMAN	V	558;558;535;486	ENSP00000385102:L558V;ENSP00000262709:L558V;ENSP00000393080:L535V	ENSP00000262709:L558V	L	+	1	2	TOX4	21033258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.276000	0.33156	1.052000	0.40392	0.528000	0.53228	TTG		0.483	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828	
OR10G3	26533	broad.mit.edu	37	14	22038675	22038675	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22038675G>A	ENST00000303532.1	-	1	200	c.201C>T	c.(199-201)ctC>ctT	p.L67L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CAATGACTGAGAGAACACCAA	0.488																																					p.L67L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	14						.						67.0	64.0	65.0					14																	22038675		2203	4300	6503	21108515	SO:0001819	synonymous_variant	26533	exon1				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.201C>T	14.37:g.22038675G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21108515	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																				0.488	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1		
OR10G2	26534	broad.mit.edu	37	14	22102378	22102378	+	Silent	SNP	G	G	A	rs370584726		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22102378G>A	ENST00000542433.1	-	1	718	c.621C>T	c.(619-621)gaC>gaT	p.D207D		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D207D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTACCCTGACGTCCACAAAGG	0.527																																					p.D207D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	14						.	G		3,4403	6.2+/-15.9	0,3,2200	69.0	76.0	73.0		621	3.8	1.0	14		73	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	OR10G2	NM_001005466.1		0,6,6496	AA,AG,GG		0.0349,0.0681,0.0461		207/311	22102378	6,12998	2203	4299	6502	21172218	SO:0001819	synonymous_variant	26534	exon1				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.621C>T	14.37:g.22102378G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21172218	NM_001005466	B2RPD0	Silent	SNP	ENST00000542433.1	37	CCDS32047.1																																																																																				0.527	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
MMP14	4323	broad.mit.edu	37	14	23306031	23306031	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23306031C>A	ENST00000311852.6	+	1	266	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	2					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S2Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CGGACCATGTCTCCCGCCCCA	0.736											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S2Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	14						.						27.0	22.0	23.0					14																	23306031		2203	4297	6500	22375871	SO:0001583	missense	4323	exon1				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.5C>A	14.37:g.23306031C>A	ENSP00000308208:p.Ser2Tyr	Somatic	762	Capture	Illumina HiSeq	Phase_I	22375871	NM_004995	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947040	0.34377	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.61040	2.36;0.14	4.62	3.72	0.42706	.	1.273530	0.05579	N	0.572511	T	0.39436	0.1078	N	0.08118	0	0.26945	N	0.966164	B	0.09022	0.002	B	0.01281	0.0	T	0.16041	-1.0416	10	0.72032	D	0.01	.	7.9357	0.29929	0.0:0.8912:0.0:0.1088	.	2	P50281	MMP14_HUMAN	Y	2	ENSP00000308208:S2Y;ENSP00000450323:S2Y	ENSP00000308208:S2Y	S	+	2	0	MMP14	22375871	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.692000	0.37731	2.561000	0.86390	0.561000	0.74099	TCT		0.736	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
PRMT5	10419	broad.mit.edu	37	14	23394130	23394130	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23394130G>T	ENST00000324366.8	-	8	1120	c.897C>A	c.(895-897)ctC>ctA	p.L299L	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397441.2_Silent_p.L282L|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000553897.1_Silent_p.L255L|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000538452.1_Silent_p.L193L|PRMT5_ENST00000216350.8_Silent_p.L238L|PRMT5_ENST00000397440.4_Silent_p.L128L|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	299					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.L299L(1)|p.L282L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CCTTGGCAAAGAGTTCATAGG	0.498																																					p.L299L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C897A	14						.						177.0	171.0	173.0					14																	23394130		2203	4300	6503	22463970	SO:0001819	synonymous_variant	10419	exon8			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.897C>A	14.37:g.23394130G>T		Somatic		Capture	Illumina HiSeq	Phase_I	22463970	NM_006109	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	ENST00000324366.8	37	CCDS9579.1																																																																																				0.498	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		
CDH24	64403	broad.mit.edu	37	14	23523376	23523376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23523376G>A	ENST00000267383.5	-	5	1038	c.946C>T	c.(946-948)Cga>Tga	p.R316*	CDH24_ENST00000397359.3_Nonsense_Mutation_p.R316*|CDH24_ENST00000487137.2_Nonsense_Mutation_p.R316*|CDH24_ENST00000554034.1_Nonsense_Mutation_p.R316*			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.R316*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCCGTCTCGACCCTGCAAG	0.587																																					p.R316X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C946T	14						.						96.0	87.0	90.0					14																	23523376		2201	4300	6501	22593216	SO:0001587	stop_gained	64403	exon6			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.946C>T	14.37:g.23523376G>A	ENSP00000267383:p.Arg316*	Somatic		Capture	Illumina HiSeq	Phase_I	22593216	NM_022478	D3DS44|Q86UP1|Q9NT84	Nonsense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062348	0.97246	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	.	.	.	4.77	3.86	0.44501	.	0.440266	0.22716	N	0.056502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2933	0.60282	0.0:0.0:0.8401:0.1599	.	.	.	.	X	316	.	ENSP00000267383:R316X	R	-	1	2	CDH24	22593216	0.651000	0.27340	0.737000	0.30932	0.953000	0.61014	3.124000	0.50461	1.204000	0.43247	-0.182000	0.12963	CGA		0.587	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	
MYH6	4624	broad.mit.edu	37	14	23854192	23854192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23854192G>A	ENST00000356287.3	-	34	5251	c.5222C>T	c.(5221-5223)tCg>tTg	p.S1741L	MYH6_ENST00000405093.3_Missense_Mutation_p.S1741L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1741					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.S1741L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCACTTCCGACTGGAGCTG	0.517																																					p.S1741L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5222T	14						.						114.0	103.0	107.0					14																	23854192		2203	4300	6503	22924032	SO:0001583	missense	4624	exon35			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5222C>T	14.37:g.23854192G>A	ENSP00000348634:p.Ser1741Leu	Somatic		Capture	Illumina HiSeq	Phase_I	22924032	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	9.253	1.041128	0.19669	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.82	2.93	0.34026	Myosin tail (1);	.	.	.	.	D	0.82360	0.5020	M	0.80847	2.515	0.09310	N	1	B	0.21381	0.055	B	0.26202	0.067	T	0.74651	-0.3594	9	0.72032	D	0.01	.	6.8599	0.24062	0.0714:0.126:0.6722:0.1304	.	1741	P13533	MYH6_HUMAN	L	1741	ENSP00000386041:S1741L;ENSP00000348634:S1741L	ENSP00000348634:S1741L	S	-	2	0	MYH6	22924032	0.000000	0.05858	0.022000	0.16811	0.108000	0.19459	-0.046000	0.11983	0.528000	0.28580	0.561000	0.74099	TCG		0.517	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23857451	23857451	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23857451C>A	ENST00000356287.3	-	29	4301	c.4272G>T	c.(4270-4272)caG>caT	p.Q1424H	MYH6_ENST00000405093.3_Missense_Mutation_p.Q1424H|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1424					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.Q1424H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTATCTCATTCTGTAGCCGGT	0.572																																					p.Q1424H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4272T	14						.						145.0	139.0	141.0					14																	23857451		2203	4300	6503	22927291	SO:0001583	missense	4624	exon30			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4272G>T	14.37:g.23857451C>A	ENSP00000348634:p.Gln1424His	Somatic		Capture	Illumina HiSeq	Phase_I	22927291	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.096492	0.76870	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.92044	0.7479	H	0.96460	3.825	0.54753	D	0.999989	D	0.55605	0.972	D	0.66351	0.943	D	0.94070	0.7334	9	0.87932	D	0	.	13.3049	0.60347	0.0:0.9206:0.0:0.0794	.	1424	P13533	MYH6_HUMAN	H	1424	ENSP00000386041:Q1424H;ENSP00000348634:Q1424H	ENSP00000348634:Q1424H	Q	-	3	2	MYH6	22927291	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.822000	0.55708	2.292000	0.77174	0.561000	0.74099	CAG		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23869610	23869610	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23869610A>G	ENST00000356287.3	-	13	1465	c.1436T>C	c.(1435-1437)aTc>aCc	p.I479T	MYH6_ENST00000405093.3_Missense_Mutation_p.I479T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	479	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.I479T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGAAGTTGATGCAGAGCTG	0.547																																					p.I479T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1436C	14						.						106.0	85.0	92.0					14																	23869610		2203	4297	6500	22939450	SO:0001583	missense	4624	exon14			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1436T>C	14.37:g.23869610A>G	ENSP00000348634:p.Ile479Thr	Somatic		Capture	Illumina HiSeq	Phase_I	22939450	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.102859	0.76983	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.91945	-2.94;-2.94	4.06	4.06	0.47325	Myosin head, motor domain (3);	.	.	.	.	D	0.97228	0.9094	H	0.97852	4.09	0.54753	D	0.999981	B;B	0.33494	0.414;0.414	P;P	0.53102	0.718;0.718	D	0.98036	1.0379	9	0.87932	D	0	.	12.5504	0.56223	1.0:0.0:0.0:0.0	.	479;479	D9YZU2;P13533	.;MYH6_HUMAN	T	479	ENSP00000386041:I479T;ENSP00000348634:I479T	ENSP00000348634:I479T	I	-	2	0	MYH6	22939450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.775000	0.91772	1.619000	0.50296	0.524000	0.50904	ATC		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23874458	23874458	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23874458T>C	ENST00000356287.3	-	4	505	c.476A>G	c.(475-477)gAc>gGc	p.D159G	MYH6_ENST00000405093.3_Missense_Mutation_p.D159G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	159	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.D159G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATAGGCGTTGTCGGAGATGGA	0.627																																					p.D159G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A476G	14						.						144.0	140.0	141.0					14																	23874458		2203	4300	6503	22944298	SO:0001583	missense	4624	exon5			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.476A>G	14.37:g.23874458T>C	ENSP00000348634:p.Asp159Gly	Somatic		Capture	Illumina HiSeq	Phase_I	22944298	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.909044	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88975	-2.45;-2.45	4.53	4.53	0.55603	Myosin head, motor domain (2);	.	.	.	.	D	0.96065	0.8718	H	0.96269	3.795	0.53688	D	0.999974	P;P	0.40619	0.724;0.724	P;P	0.61800	0.894;0.894	D	0.97115	0.9807	9	0.87932	D	0	.	14.0067	0.64468	0.0:0.0:0.0:1.0	.	159;159	D9YZU2;P13533	.;MYH6_HUMAN	G	159	ENSP00000386041:D159G;ENSP00000348634:D159G	ENSP00000348634:D159G	D	-	2	0	MYH6	22944298	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.579000	0.82511	2.035000	0.60131	0.444000	0.29173	GAC		0.627	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH7	4625	broad.mit.edu	37	14	23896862	23896862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23896862C>T	ENST00000355349.3	-	16	1982	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	607	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.G607D(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGATACAAGCCCACGACAGT	0.547																																					p.G607D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1820A	14						.						108.0	95.0	99.0					14																	23896862		2203	4300	6503	22966702	SO:0001583	missense	4625	exon16			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1820G>A	14.37:g.23896862C>T	ENSP00000347507:p.Gly607Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22966702	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609982	0.28712	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86956	-2.19	5.13	-8.47	0.00939	Myosin head, motor domain (2);	.	.	.	.	D	0.85230	0.5649	N	0.16743	0.435	0.26767	N	0.96987	P	0.38504	0.634	P	0.61397	0.888	T	0.77070	-0.2724	9	0.20519	T	0.43	.	15.9078	0.79445	0.0:0.2592:0.6349:0.1059	.	607	P12883	MYH7_HUMAN	D	607	ENSP00000347507:G607D	ENSP00000347507:G607D	G	-	2	0	MYH7	22966702	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.609000	0.05635	-1.338000	0.02233	-1.715000	0.00711	GGC		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
NGDN	25983	broad.mit.edu	37	14	23947229	23947229	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23947229G>A	ENST00000408901.3	+	11	970	c.942G>A	c.(940-942)cgG>cgA	p.R314R	NGDN_ENST00000397154.3_3'UTR|NGDN_ENST00000556580.1_Silent_p.R70R	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	314					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R314R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTCGGAGGCGGCGGTGATTAT	0.403																																					p.R314R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	14						.						224.0	205.0	211.0					14																	23947229		1898	4118	6016	23017069	SO:0001819	synonymous_variant	25983	exon11			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.942G>A	14.37:g.23947229G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23017069	NM_001042635	A8K760|Q9Y400	Silent	SNP	ENST00000408901.3	37	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140595	0.21205	.	.	ENSG00000129460	ENST00000556483	.	.	.	5.98	5.07	0.68467	.	.	.	.	.	T	0.65606	0.2707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64546	-0.6382	4	.	.	.	-9.1484	12.9029	0.58135	0.0:0.1696:0.8304:0.0	.	.	.	.	T	262	.	.	A	+	1	0	NGDN	23017069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.322000	0.19576	1.495000	0.48549	0.650000	0.86243	GCG		0.403	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635	
PCK2	5106	broad.mit.edu	37	14	24569454	24569454	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24569454T>C	ENST00000216780.4	+	7	1502				PCK2_ENST00000545054.2_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000396973.4_Silent_p.P422P|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.P422P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGCACAGCCTCCAGGCCTCA	0.547																																					p.P422P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1266C	14						.						97.0	69.0	78.0					14																	24569454		2203	4300	6503	23639294	SO:0001627	intron_variant	5106	exon7			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+32T>C	14.37:g.24569454T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23639294	NM_001018073	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																				0.547	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
RNF31	55072	broad.mit.edu	37	14	24629074	24629074	+	Splice_Site	SNP	C	C	A	rs564151269		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24629074C>A	ENST00000324103.6	+	19	3221	c.2901C>A	c.(2899-2901)ggC>ggA	p.G967G	IRF9_ENST00000396864.3_5'Flank|RNA5SP383_ENST00000362934.1_RNA|RNF31_ENST00000559275.1_Splice_Site_p.G816G|RP11-468E2.4_ENST00000558468.1_Splice_Site_p.G442G|IRF9_ENST00000557894.1_5'Flank|RNF31_ENST00000382687.3_Splice_Site_p.G816G	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	967	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G967G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACCTTTAGGCGGCTGCCGAG	0.582																																					p.G967G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2901A	14						.						122.0	125.0	124.0					14																	24629074		1947	4145	6092	23698914	SO:0001630	splice_region_variant	55072	exon19			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2900-1C>A	14.37:g.24629074C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23698914	NM_017999	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Silent
IPO4	79711	broad.mit.edu	37	14	24656156	24656156	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24656156C>A	ENST00000354464.6	-	8	860	c.684G>T	c.(682-684)ttG>ttT	p.L228F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	228					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.L228F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACAGTTCATCCAAAGCCTCAA	0.557																																					p.L228F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G684T	14						.						85.0	91.0	89.0					14																	24656156		2154	4274	6428	23725996	SO:0001583	missense	79711	exon8			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.684G>T	14.37:g.24656156C>A	ENSP00000346453:p.Leu228Phe	Somatic		Capture	Illumina HiSeq	Phase_I	23725996	NM_024658	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	3.380	-0.126541	0.06795	.	.	ENSG00000196497	ENST00000354464	T	0.12569	2.67	4.69	0.564	0.17302	Armadillo-like helical (1);Armadillo-type fold (1);	0.168915	0.40064	N	0.001184	T	0.05593	0.0147	N	0.05441	-0.05	0.35678	D	0.813884	B	0.26975	0.165	B	0.32533	0.147	T	0.38585	-0.9654	10	0.15066	T	0.55	-10.6739	5.0762	0.14632	0.54:0.2899:0.0:0.1701	.	228	Q8TEX9	IPO4_HUMAN	F	228	ENSP00000346453:L228F	ENSP00000346453:L228F	L	-	3	2	IPO4	23725996	0.260000	0.24053	1.000000	0.80357	0.582000	0.36321	-0.863000	0.04259	0.232000	0.21100	0.563000	0.77884	TTG		0.557	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658	
TM9SF1	10548	broad.mit.edu	37	14	24659599	24659599	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24659599A>C	ENST00000261789.4	-	5	1772	c.1414T>G	c.(1414-1416)Ttc>Gtc	p.F472V	RP11-468E2.2_ENST00000561419.1_Silent_p.A8A|TM9SF1_ENST00000528669.1_Intron|TM9SF1_ENST00000396854.4_Missense_Mutation_p.F472V|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000524835.1_Missense_Mutation_p.F385V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.F681V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.F681V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	472					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.F472V(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AAAGGCAGGAAGCCTCCAACA	0.522																																					p.F472V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1414G	14						.						103.0	88.0	93.0					14																	24659599		2203	4300	6503	23729439	SO:0001583	missense	10548	exon5			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1414T>G	14.37:g.24659599A>C	ENSP00000261789:p.Phe472Val	Somatic		Capture	Illumina HiSeq	Phase_I	23729439	NM_001014842	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.491192|4.491192	0.84962|0.84962	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.39056|0.56611	1.1;1.1;1.1;1.1;1.1|0.45	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54967|0.54967	0.1891|0.1891	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	B;B|.	0.34103|.	0.213;0.437|.	B;B|.	0.41174|.	0.345;0.349|.	T|T	0.59300|0.59300	-0.7480|-0.7480	10|7	0.30854|0.87932	T|D	0.27|0	-14.2144|-14.2144	13.242|13.242	0.60002|0.60002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	472;472|.	Q86SZ6;O15321|.	.;TM9S1_HUMAN|.	V|R	472;681;385;472;681|39	ENSP00000261789:F472V;ENSP00000451949:F681V;ENSP00000434387:F385V;ENSP00000380063:F472V;ENSP00000433967:F681V|ENSP00000436486:L39R	ENSP00000433967:F681V|ENSP00000436486:L39R	F|L	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23729439|23729439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.844000|7.844000	0.86867|0.86867	2.008000|2.008000	0.58898|0.58898	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
MDP1	145553	broad.mit.edu	37	14	24684960	24684960	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24684960A>G	ENST00000288087.7	-	2	192	c.81T>C	c.(79-81)ccT>ccC	p.P27P	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000396833.2_Silent_p.P27P|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000532557.1_5'UTR|TM9SF1_ENST00000556387.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	27						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.P27P(1)		breast(2)|large_intestine(2)|lung(3)	7						TATGGAACGGAGGGTCTACGT	0.607											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P27P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T81C	14						.						174.0	168.0	170.0					14																	24684960		2203	4300	6503	23754800	SO:0001819	synonymous_variant	145553	exon2			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.81T>C	14.37:g.24684960A>G		Somatic	773	Capture	Illumina HiSeq	Phase_I	23754800	NM_001199822	Q86Y84|Q8NAD9	Silent	SNP	ENST00000288087.7	37	CCDS9620.1																																																																																				0.607	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476	
GMPR2	51292	broad.mit.edu	37	14	24707966	24707966	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24707966C>A	ENST00000355299.4	+	10	1490	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	GMPR2_ENST00000420554.2_Silent_p.I361I|GMPR2_ENST00000559910.1_Silent_p.I310I|TINF2_ENST00000558510.1_5'Flank|GMPR2_ENST00000559836.1_Silent_p.I343I|GMPR2_ENST00000348719.7_Silent_p.I404I|GMPR2_ENST00000456667.3_Silent_p.I315I|GMPR2_ENST00000557854.1_Silent_p.I422I|GMPR2_ENST00000559104.1_Silent_p.I328I|GMPR2_ENST00000399440.2_Silent_p.I343I	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	343					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.I343I(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TGAATCCAATCTTCAGTGAGG	0.552																																					p.I361I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1083A	14						.						76.0	75.0	75.0					14																	24707966		2017	4171	6188	23777806	SO:0001819	synonymous_variant	51292	exon9				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.1029C>A	14.37:g.24707966C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23777806	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	CCDS41935.1																																																																																				0.552	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
TGM1	7051	broad.mit.edu	37	14	24729843	24729843	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24729843A>G	ENST00000206765.6	-	4	693	c.570T>C	c.(568-570)agT>agC	p.S190S	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	190					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S190S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCCAGCCTCCACTGCCCCCCT	0.592																																					p.S190S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T570C	14						.						138.0	119.0	125.0					14																	24729843		2203	4300	6503	23799683	SO:0001819	synonymous_variant	7051	exon4			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.570T>C	14.37:g.24729843A>G		Somatic		Capture	Illumina HiSeq	Phase_I	23799683	NM_000359	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																				0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
ADCY4	196883	broad.mit.edu	37	14	24791343	24791343	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24791343G>A	ENST00000310677.4	-	21	2628	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R839W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R839W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	839					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R839W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AAGAGCAGCCGAGTCAGGTTC	0.607																																					p.R839W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2515T	14						.						133.0	116.0	122.0					14																	24791343		2203	4300	6503	23861183	SO:0001583	missense	196883	exon20			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2515C>T	14.37:g.24791343G>A	ENSP00000312126:p.Arg839Trp	Somatic		Capture	Illumina HiSeq	Phase_I	23861183	NM_001198568	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362455	0.82353	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.78364	-1.17;-1.17;-1.17	5.16	4.26	0.50523	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.45606	D	0.000357	D	0.85221	0.5647	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.55055	0.767	D	0.87078	0.2164	10	0.72032	D	0.01	.	10.6444	0.45610	0.0:0.0:0.651:0.349	.	839	Q8NFM4	ADCY4_HUMAN	W	839	ENSP00000312126:R839W;ENSP00000452250:R839W;ENSP00000393177:R839W	ENSP00000312126:R839W	R	-	1	2	ADCY4	23861183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.699000	0.54778	1.392000	0.46585	0.655000	0.94253	CGG		0.607	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
ADCY4	196883	broad.mit.edu	37	14	24793382	24793382	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24793382C>A	ENST00000310677.4	-	17	2045	c.1932G>T	c.(1930-1932)aaG>aaT	p.K644N	ADCY4_ENST00000418030.2_Missense_Mutation_p.K644N|ADCY4_ENST00000396747.3_Missense_Mutation_p.K337N|ADCY4_ENST00000554068.2_Missense_Mutation_p.K644N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	644					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.K644N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGTGCAGCATCTTGGGGCCTT	0.627																																					p.K644N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1932T	14						.						65.0	65.0	65.0					14																	24793382		2203	4300	6503	23863222	SO:0001583	missense	196883	exon16			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1932G>T	14.37:g.24793382C>A	ENSP00000312126:p.Lys644Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23863222	NM_001198568	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354681	0.61293	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.79749	-1.13;-1.13;-1.13;-1.3	4.93	4.02	0.46733	.	0.000000	0.48767	D	0.000177	T	0.74741	0.3756	L	0.56769	1.78	0.35334	D	0.78584	B	0.15719	0.014	B	0.13407	0.009	T	0.74153	-0.3757	10	0.26408	T	0.33	.	11.5085	0.50481	0.0:0.9095:0.0:0.0905	.	644	Q8NFM4	ADCY4_HUMAN	N	644;644;644;337	ENSP00000312126:K644N;ENSP00000452250:K644N;ENSP00000393177:K644N;ENSP00000379971:K337N	ENSP00000312126:K644N	K	-	3	2	ADCY4	23863222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.186000	0.50942	2.569000	0.86673	0.563000	0.77884	AAG		0.627	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
NFATC4	4776	broad.mit.edu	37	14	24845877	24845877	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24845877C>T	ENST00000250373.4	+	9	2575	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.R100W|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.R844W|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.R844W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R347W|NFATC4_ENST00000413692.2_Missense_Mutation_p.R875W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R825W|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.R742W|NFATC4_ENST00000555802.1_Missense_Mutation_p.R100W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R800W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R742W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R347W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R742W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R812W|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555590.1_Missense_Mutation_p.R825W|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.R800W|NFATC4_ENST00000556169.1_Intron	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	812	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.R812W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCCCCTTTCGGCCGCCTCC	0.627																																					p.R875W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2623T	14						.						62.0	73.0	69.0					14																	24845877		2203	4300	6503	23915717	SO:0001583	missense	4776	exon10			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2434C>T	14.37:g.24845877C>T	ENSP00000250373:p.Arg812Trp	Somatic		Capture	Illumina HiSeq	Phase_I	23915717	NM_001136022	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839350	0.51057	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	3.13;3.18;3.15;3.15;3.17;3.18;3.15;2.87;2.87;2.85;2.83;2.85;1.44;1.43;0.61;0.75	5.53	3.61	0.41365	.	0.122741	0.36932	N	0.002330	T	0.39358	0.1075	N	0.14661	0.345	0.29743	N	0.836975	D;D;D;D;D;D;D;D;D	0.65815	0.983;0.979;0.979;0.979;0.995;0.995;0.991;0.989;0.964	P;B;B;B;B;B;B;B;B	0.51016	0.656;0.197;0.197;0.197;0.356;0.356;0.272;0.197;0.097	T	0.35699	-0.9778	10	0.45353	T	0.12	-7.8121	12.3061	0.54902	0.3178:0.6822:0.0:0.0	.	800;844;825;825;875;875;800;844;812	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	875;825;825;844;844;812;812;742;742;742;800;800;347;347;100;100	ENSP00000388910:R875W;ENSP00000451224:R825W;ENSP00000388668:R825W;ENSP00000439350:R844W;ENSP00000452270:R844W;ENSP00000250373:R812W;ENSP00000450590:R812W;ENSP00000452349:R742W;ENSP00000450469:R742W;ENSP00000451284:R742W;ENSP00000396788:R800W;ENSP00000450686:R800W;ENSP00000451183:R347W;ENSP00000451395:R347W;ENSP00000451801:R100W;ENSP00000451590:R100W	ENSP00000250373:R812W	R	+	1	2	NFATC4	23915717	0.272000	0.24172	0.993000	0.49108	0.994000	0.84299	-0.163000	0.09997	0.614000	0.30107	0.561000	0.74099	CGG		0.627	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
NYNRIN	57523	broad.mit.edu	37	14	24877619	24877619	+	Missense_Mutation	SNP	G	G	A	rs368004631		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24877619G>A	ENST00000382554.3	+	3	1061	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	248					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.G248E(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGACATGGGGACCCTCCAG	0.597																																					p.G248E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743A	14						.	G	GLU/GLY	1,3899		0,1,1949	39.0	42.0	41.0		743	-0.2	0.0	14		41	0,8306		0,0,4153	no	missense	NYNRIN	NM_025081.2	98	0,1,6102	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	248/1899	24877619	1,12205	1950	4153	6103	23947459	SO:0001583	missense	57523	exon3			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.743G>A	14.37:g.24877619G>A	ENSP00000371994:p.Gly248Glu	Somatic		Capture	Illumina HiSeq	Phase_I	23947459	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	3.479	-0.106392	0.06924	2.56E-4	0.0	ENSG00000205978	ENST00000382554	T	0.10288	2.89	4.08	-0.173	0.13322	.	2.470960	0.01631	N	0.023524	T	0.08758	0.0217	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37361	-0.9709	10	0.87932	D	0	.	3.6566	0.08223	0.3304:0.1891:0.4805:0.0	.	248	Q9P2P1	NYNRI_HUMAN	E	248	ENSP00000371994:G248E	ENSP00000371994:G248E	G	+	2	0	NYNRIN	23947459	0.981000	0.34729	0.002000	0.10522	0.003000	0.03518	2.041000	0.41213	0.144000	0.18951	-0.150000	0.13652	GGG		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
NYNRIN	57523	broad.mit.edu	37	14	24878434	24878434	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:24878434G>T	ENST00000382554.3	+	4	1752	c.1434G>T	c.(1432-1434)caG>caT	p.Q478H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	478					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.Q478H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATCTCCCACAGATAGGGCCAC	0.512																																					p.Q478H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1434T	14						.						37.0	39.0	38.0					14																	24878434		1900	4101	6001	23948274	SO:0001583	missense	57523	exon4			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1434G>T	14.37:g.24878434G>T	ENSP00000371994:p.Gln478His	Somatic		Capture	Illumina HiSeq	Phase_I	23948274	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514794	0.64634	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	4.79	-0.238	0.13055	.	1.574740	0.03689	N	0.246727	T	0.13415	0.0325	L	0.27053	0.805	0.23260	N	0.998027	P	0.37864	0.61	B	0.44163	0.443	T	0.24941	-1.0146	10	0.87932	D	0	.	3.4535	0.07507	0.3878:0.0:0.4375:0.1748	.	478	Q9P2P1	NYNRI_HUMAN	H	478	ENSP00000371994:Q478H	ENSP00000371994:Q478H	Q	+	3	2	NYNRIN	23948274	0.966000	0.33281	0.701000	0.30321	0.825000	0.46686	0.382000	0.20635	-0.040000	0.13580	0.655000	0.94253	CAG		0.512	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
STXBP6	29091	broad.mit.edu	37	14	25288326	25288326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:25288326G>A	ENST00000323944.5	-	5	977	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	STXBP6_ENST00000358326.2_Missense_Mutation_p.R176C|STXBP6_ENST00000548724.1_Missense_Mutation_p.R176C|STXBP6_ENST00000546511.1_Missense_Mutation_p.R176C|STXBP6_ENST00000419632.2_Missense_Mutation_p.R176C|STXBP6_ENST00000396700.1_Missense_Mutation_p.R176C|STXBP6_ENST00000550887.1_Missense_Mutation_p.R176C|STXBP6_ENST00000548369.1_Missense_Mutation_p.R74C			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	176	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R176C(1)		central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGCTCTCCACGCTCATTCAAG	0.567																																					p.R176C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C526T	14						.						177.0	151.0	160.0					14																	25288326		2203	4300	6503	24358166	SO:0001583	missense	29091	exon5			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.526C>T	14.37:g.25288326G>A	ENSP00000324302:p.Arg176Cys	Somatic		Capture	Illumina HiSeq	Phase_I	24358166	NM_014178	D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394209	0.83011	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.35	5.35	0.76521	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	T	0.82481	-0.0436	10	0.87932	D	0	-2.0007	16.5691	0.84606	0.0:0.0:1.0:0.0	.	176;74	Q8NFX7;Q8NFX7-3	STXB6_HUMAN;.	C	176;176;176;176;176;176;74;176	ENSP00000379928:R176C;ENSP00000447383:R176C;ENSP00000324302:R176C;ENSP00000397212:R176C;ENSP00000449536:R176C;ENSP00000449379:R176C;ENSP00000447655:R74C;ENSP00000351083:R176C	ENSP00000324302:R176C	R	-	1	0	STXBP6	24358166	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.827000	0.99397	2.516000	0.84829	0.460000	0.39030	CGT		0.567	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1		
NOVA1	4857	broad.mit.edu	37	14	26917305	26917305	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:26917305C>T	ENST00000539517.2	-	5	1701	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	NOVA1_ENST00000465357.2_Missense_Mutation_p.E438K|NOVA1_ENST00000267422.7_Missense_Mutation_p.E340K	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	465	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E462K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGTACGAATTCTCCTTTTTTG	0.428																																					p.E438K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	14						.						170.0	140.0	150.0					14																	26917305		2203	4300	6503	25987145	SO:0001583	missense	4857	exon4			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1384G>A	14.37:g.26917305C>T	ENSP00000438875:p.Glu462Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25987145	NM_006489	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305569	0.60305	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.35973	1.32;1.33;1.28	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	L	0.52573	1.65	0.80722	D	1	P;P;P	0.51057	0.941;0.792;0.753	D;P;P	0.71414	0.973;0.72;0.715	T	0.48151	-0.9060	10	0.44086	T	0.13	-11.429	20.3151	0.98650	0.0:1.0:0.0:0.0	.	465;438;462	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	K	438;462;340	ENSP00000447391:E438K;ENSP00000438875:E462K;ENSP00000267422:E340K	ENSP00000267422:E340K	E	-	1	0	NOVA1	25987145	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GAA		0.428	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
FOXG1	2290	broad.mit.edu	37	14	29237715	29237715	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:29237715C>T	ENST00000313071.4	+	1	1429	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	FOXG1_ENST00000382535.3_Silent_p.L410L	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	410					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L410L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCAACCTGCTCGCGGGCCAGA	0.682																																					p.L410L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1230T	14						.						49.0	40.0	43.0					14																	29237715		2203	4300	6503	28307466	SO:0001819	synonymous_variant	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1230C>T	14.37:g.29237715C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28307466	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	CCDS9636.1																																																																																				0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
PRKD1	5587	broad.mit.edu	37	14	30046618	30046618	+	Silent	SNP	G	G	A	rs143388121		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:30046618G>A	ENST00000331968.5	-	18	2794	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	PRKD1_ENST00000415220.2_Silent_p.I863I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	855					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I855I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGCGCTCCCCGATTTTGCATT	0.468																																					p.I855I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2565T	14						.	G		0,4406		0,0,2203	122.0	112.0	115.0		2565	-8.1	0.8	14	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRKD1	NM_002742.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		855/913	30046618	1,13005	2203	4300	6503	29116369	SO:0001819	synonymous_variant	5587	exon18				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2565C>T	14.37:g.30046618G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29116369	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
PRKD1	5587	broad.mit.edu	37	14	30103633	30103633	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:30103633C>A	ENST00000331968.5	-	8	1534	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	PRKD1_ENST00000415220.2_Missense_Mutation_p.K443N|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	435	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.K435N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAGCGTGTCCTTGCTGGTGT	0.468																																					p.K435N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1305T	14						.						480.0	353.0	396.0					14																	30103633		2203	4300	6503	29173384	SO:0001583	missense	5587	exon8				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1305G>T	14.37:g.30103633C>A	ENSP00000333568:p.Lys435Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29173384	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362985	0.41902	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.76448	-1.02;-1.02;-1.02	6.02	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.72894	2.215	0.54753	D	0.999986	B	0.17465	0.022	B	0.30105	0.111	T	0.74774	-0.3551	10	0.48119	T	0.1	-28.4302	10.1977	0.43065	0.0:0.7299:0.0:0.2701	.	435	Q15139	KPCD1_HUMAN	N	435;443;16	ENSP00000333568:K435N;ENSP00000390535:K443N;ENSP00000447333:K16N	ENSP00000333568:K435N	K	-	3	2	PRKD1	29173384	0.992000	0.36948	1.000000	0.80357	0.908000	0.53690	0.306000	0.19279	1.561000	0.49584	0.655000	0.94253	AAG		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
PRKD1	5587	broad.mit.edu	37	14	30107943	30107943	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:30107943C>A	ENST00000331968.5	-	5	1093	c.864G>T	c.(862-864)aaG>aaT	p.K288N	PRKD1_ENST00000415220.2_Missense_Mutation_p.K296N|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	288					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.K288N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGAAGCTTCTTGCAGTACT	0.468																																					p.K288N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G864T	14						.						64.0	59.0	61.0					14																	30107943		2203	4300	6503	29177694	SO:0001583	missense	5587	exon5				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.864G>T	14.37:g.30107943C>A	ENSP00000333568:p.Lys288Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29177694	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472475	0.84640	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.93366	-3.21;-3.21	5.4	4.51	0.55191	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	L	0.41710	1.295	0.80722	D	1	P	0.51351	0.944	P	0.53760	0.734	D	0.93551	0.6886	10	0.72032	D	0.01	-30.9604	14.2695	0.66143	0.0:0.928:0.0:0.072	.	288	Q15139	KPCD1_HUMAN	N	288;296	ENSP00000333568:K288N;ENSP00000390535:K296N	ENSP00000333568:K288N	K	-	3	2	PRKD1	29177694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	1.417000	0.47077	0.650000	0.86243	AAG		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
PRKD1	5587	broad.mit.edu	37	14	30194766	30194766	+	Missense_Mutation	SNP	C	C	T	rs370180862		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:30194766C>T	ENST00000331968.5	-	2	608	c.379G>A	c.(379-381)Gat>Aat	p.D127N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D127N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	127					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D127N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAATAAGATCGCCTTCCTGG	0.388																																					p.D127N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G379A	14						.	C	ASN/ASP	0,4406		0,0,2203	129.0	120.0	123.0		379	5.6	1.0	14		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKD1	NM_002742.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	127/913	30194766	1,13005	2203	4300	6503	29264517	SO:0001583	missense	5587	exon2				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.379G>A	14.37:g.30194766C>T	ENSP00000333568:p.Asp127Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29264517	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628150	0.96671	0.0	1.16E-4	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.84370	-1.84;-1.84;-1.84	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	M	0.75777	2.31	0.80722	D	1	D	0.60575	0.988	P	0.48488	0.579	D	0.88816	0.3295	10	0.48119	T	0.1	-16.6539	19.5671	0.95398	0.0:1.0:0.0:0.0	.	127	Q15139	KPCD1_HUMAN	N	127;127;50	ENSP00000333568:D127N;ENSP00000390535:D127N;ENSP00000446866:D50N	ENSP00000333568:D127N	D	-	1	0	PRKD1	29264517	1.000000	0.71417	0.961000	0.40146	0.969000	0.65631	7.814000	0.86154	2.629000	0.89072	0.561000	0.74099	GAT		0.388	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
SCFD1	23256	broad.mit.edu	37	14	31177197	31177197	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:31177197C>A	ENST00000458591.2	+	19	1782	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I	SCFD1_ENST00000421551.3_Splice_Site_p.L460I|SCFD1_ENST00000544052.2_Splice_Site_p.L452I|SCFD1_ENST00000541123.1_Splice_Site_p.L334I|SCFD1_ENST00000396629.2_Splice_Site_p.L427I	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	519					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)	p.L519I(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCTACCTAGTCTTTTATCACG	0.388																																					p.L452I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1354A	14						.						203.0	186.0	192.0					14																	31177197		2203	4300	6503	30246948	SO:0001630	splice_region_variant	23256	exon18			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1554-1C>A	14.37:g.31177197C>A		Somatic		Capture	Illumina HiSeq	Phase_I	30246948	NM_182835	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772091	0.49680	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.55213	1.73	0.52099	D	0.999949	B;P;P	0.38223	0.425;0.566;0.623	B;B;B	0.40702	0.166;0.338;0.338	T	0.03202	-1.1061	10	0.25106	T	0.35	-19.3759	11.6756	0.51427	0.0:0.9176:0.0:0.0824	.	460;452;519	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	I	519;452;460;334;427	ENSP00000390783:L519I;ENSP00000443010:L452I;ENSP00000388078:L460I;ENSP00000443537:L334I;ENSP00000379870:L427I	ENSP00000309417:L527I	L	+	1	0	SCFD1	30246948	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.691000	0.61738	2.586000	0.87340	0.655000	0.94253	CTT		0.388	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	Missense_Mutation
STRN3	29966	broad.mit.edu	37	14	31405829	31405829	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:31405829A>G	ENST00000357479.5	-	6	914	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P	STRN3_ENST00000355683.5_Splice_Site_p.S240P	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	240					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S240P(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCACCAGAGGACCTGTGCGAA	0.368																																					p.S240P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T718C	14						.						114.0	101.0	105.0					14																	31405829		2203	4300	6503	30475580	SO:0001630	splice_region_variant	29966	exon6				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.717-1T>C	14.37:g.31405829A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30475580	NM_001083893	A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	9.591	1.126059	0.20959	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	D;D	0.86627	-2.15;-2.15	5.34	0.69	0.18039	.	0.367347	0.33110	N	0.005279	T	0.77198	0.4095	L	0.40543	1.245	0.27256	N	0.958765	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.62982	-0.6738	10	0.34782	T	0.22	-4.3618	5.4815	0.16727	0.1795:0.0:0.3022:0.5184	.	240;240	Q13033-2;Q13033	.;STRN3_HUMAN	P	240	ENSP00000347909:S240P;ENSP00000350071:S240P	ENSP00000347909:S240P	S	-	1	0	STRN3	30475580	1.000000	0.71417	0.988000	0.46212	0.427000	0.31564	2.778000	0.47726	0.225000	0.20959	-0.321000	0.08615	TCC		0.368	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574	Missense_Mutation
HECTD1	25831	broad.mit.edu	37	14	31576034	31576034	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:31576034G>A	ENST00000399332.1	-	38	7532	c.7044C>T	c.(7042-7044)gaC>gaT	p.D2348D	HECTD1_ENST00000553700.1_Silent_p.D2348D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2348	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.D2348D(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTAATTCAAAGTCTTCCCAAG	0.378																																					p.D2348D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7044T	14						.						71.0	65.0	67.0					14																	31576034		1795	4066	5861	30645785	SO:0001819	synonymous_variant	25831	exon38			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7044C>T	14.37:g.31576034G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30645785	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	5.808	0.333431	0.11013	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.96	3.8	0.43715	.	.	.	.	.	T	0.62720	0.2451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61417	-0.7067	4	.	.	.	-9.4956	11.7298	0.51730	0.2161:0.0:0.7839:0.0	.	.	.	.	I	714	.	.	T	-	2	0	HECTD1	30645785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.696000	0.47052	1.489000	0.48450	0.655000	0.94253	ACT		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
HECTD1	25831	broad.mit.edu	37	14	31614023	31614023	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:31614023G>T	ENST00000399332.1	-	16	3109	c.2621C>A	c.(2620-2622)aCa>aAa	p.T874K	HECTD1_ENST00000553700.1_Missense_Mutation_p.T874K|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	874					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.T874K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTCTATTTGTATGAAGTTC	0.378																																					p.T874K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2621A	14						.						74.0	72.0	72.0					14																	31614023		1866	4113	5979	30683774	SO:0001583	missense	25831	exon16			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2621C>A	14.37:g.31614023G>T	ENSP00000382269:p.Thr874Lys	Somatic		Capture	Illumina HiSeq	Phase_I	30683774	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914674	0.52546	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.71222	1.08;1.08;1.55;-0.55	5.69	5.69	0.88448	Armadillo-type fold (1);	0.067914	0.56097	U	0.000022	T	0.43010	0.1228	N	0.01874	-0.695	0.80722	D	1	B;B	0.30482	0.044;0.281	B;B	0.24974	0.019;0.057	T	0.54754	-0.8246	10	0.02654	T	1	-9.8654	19.8148	0.96562	0.0:0.0:1.0:0.0	.	874;874	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	874;874;874;348;874	ENSP00000450697:T874K;ENSP00000382269:T874K;ENSP00000451860:T348K;ENSP00000452015:T874K	ENSP00000261312:T874K	T	-	2	0	HECTD1	30683774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.615000	0.83006	2.687000	0.91594	0.650000	0.86243	ACA		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
HECTD1	25831	broad.mit.edu	37	14	31641128	31641128	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:31641128C>A	ENST00000399332.1	-	8	1759	c.1271G>T	c.(1270-1272)aGa>aTa	p.R424I	HECTD1_ENST00000553700.1_Missense_Mutation_p.R424I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	424					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R424I(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTTGACCTCTATTAACATC	0.289																																					p.R424I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1271T	14						.						93.0	89.0	90.0					14																	31641128		1832	4089	5921	30710879	SO:0001583	missense	25831	exon8			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1271G>T	14.37:g.31641128C>A	ENSP00000382269:p.Arg424Ile	Somatic		Capture	Illumina HiSeq	Phase_I	30710879	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274602	0.95459	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.32023	1.47;1.47;1.47	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	N	0.11756	0.17	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	T	0.50074	-0.8870	10	0.87932	D	0	-8.6168	19.328	0.94270	0.0:1.0:0.0:0.0	.	424	Q9ULT8	HECD1_HUMAN	I	424	ENSP00000450697:R424I;ENSP00000382269:R424I;ENSP00000452015:R424I	ENSP00000261312:R424I	R	-	2	0	HECTD1	30710879	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	6.072000	0.71238	2.570000	0.86706	0.585000	0.79938	AGA		0.289	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
AKAP6	9472	broad.mit.edu	37	14	32902840	32902840	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:32902840C>T	ENST00000280979.4	+	2	311	c.141C>T	c.(139-141)gaC>gaT	p.D47D	AKAP6_ENST00000557272.1_Silent_p.D47D|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Silent_p.D47D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	47					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D47D(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGGACATGGACTCTGACCAGC	0.542																																					p.D47D	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	14						.						175.0	137.0	150.0					14																	32902840		2203	4300	6503	31972591	SO:0001819	synonymous_variant	9472	exon2			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.141C>T	14.37:g.32902840C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31972591	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.542	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33069853	33069853	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:33069853G>A	ENST00000280979.4	+	7	2755	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q	AKAP6_ENST00000557272.1_Missense_Mutation_p.R862Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.R862Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	862					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R862Q(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACATGCTGCGGATGATTGCA	0.458																																					p.R862Q	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2585A	14						.						72.0	69.0	70.0					14																	33069853		2203	4300	6503	32139604	SO:0001583	missense	9472	exon7			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2585G>A	14.37:g.33069853G>A	ENSP00000280979:p.Arg862Gln	Somatic		Capture	Illumina HiSeq	Phase_I	32139604	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801718	0.02841	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.76060	0.87;-0.99;-0.99	5.58	-1.37	0.09056	.	0.456679	0.21758	N	0.069569	T	0.42200	0.1192	N	0.03608	-0.345	0.22468	N	0.99908	B;B	0.14438	0.01;0.01	B;B	0.11329	0.004;0.006	T	0.39375	-0.9617	10	0.05833	T	0.94	-0.2367	10.2101	0.43136	0.745:0.0:0.255:0.0	.	862;862	A7E242;Q13023	.;AKAP6_HUMAN	Q	862	ENSP00000280979:R862Q;ENSP00000450531:R862Q;ENSP00000451247:R862Q	ENSP00000280979:R862Q	R	+	2	0	AKAP6	32139604	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.485000	0.35519	-0.121000	0.11787	-0.140000	0.14226	CGG		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33242901	33242901	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:33242901C>A	ENST00000280979.4	+	12	3560	c.3390C>A	c.(3388-3390)atC>atA	p.I1130I	AKAP6_ENST00000557272.1_Silent_p.I1130I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1130					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.I1130I(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCGTGAAATCAAGCAACGAC	0.468																																					p.I1130I	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3390A	14						.						132.0	124.0	127.0					14																	33242901		2203	4300	6503	32312652	SO:0001819	synonymous_variant	9472	exon12			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3390C>A	14.37:g.33242901C>A		Somatic		Capture	Illumina HiSeq	Phase_I	32312652	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662135	0.03454	.	.	ENSG00000151320	ENST00000554740	.	.	.	5.28	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.253	6.4837	0.22077	0.1285:0.6648:0.0:0.2067	.	.	.	.	X	17	.	.	S	+	2	0	AKAP6	32312652	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	0.862000	0.27899	0.321000	0.23259	-0.216000	0.12614	TCA		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33292344	33292344	+	Silent	SNP	C	C	T	rs373861263		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:33292344C>T	ENST00000280979.4	+	13	5495	c.5325C>T	c.(5323-5325)gaC>gaT	p.D1775D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1775					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1775D(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGAGGATGACGACTCCAGTA	0.453																																					p.D1775D	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5325T	14						.						114.0	105.0	108.0					14																	33292344		2203	4300	6503	32362095	SO:0001819	synonymous_variant	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5325C>T	14.37:g.33292344C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32362095	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
NPAS3	64067	broad.mit.edu	37	14	33684750	33684750	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:33684750A>G	ENST00000356141.4	+	3	385				NPAS3_ENST00000357798.5_Silent_p.Q101Q|NPAS3_ENST00000548645.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000551008.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.Q101Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGGGATACAAATGTGGAAAT	0.338																																					p.Q101Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A303G	14						.						84.0	95.0	91.0					14																	33684750		2179	4291	6470	32754501	SO:0001627	intron_variant	64067	exon3			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.385+118A>G	14.37:g.33684750A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32754501	NM_173159	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																				0.338	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
NPAS3	64067	broad.mit.edu	37	14	34204483	34204483	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:34204483G>A	ENST00000356141.4	+	7	797	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	NPAS3_ENST00000357798.5_Missense_Mutation_p.R253Q|NPAS3_ENST00000548645.1_Missense_Mutation_p.R236Q|NPAS3_ENST00000346562.2_Missense_Mutation_p.R234Q|NPAS3_ENST00000551492.1_Missense_Mutation_p.R271Q			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	266					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R253Q(1)|p.R234Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTTCATCCGAATGAAATCT	0.478																																					p.R234Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G701A	14						.						143.0	130.0	134.0					14																	34204483		2203	4300	6503	33274234	SO:0001583	missense	64067	exon6			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.797G>A	14.37:g.34204483G>A	ENSP00000348460:p.Arg266Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33274234	NM_022123	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.750848|5.750848	0.96890|0.96890	.|.	.|.	ENSG00000151322|ENSG00000151322	ENST00000552874|ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	.|T;T;T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43;1.43;1.43	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.68007|0.68007	0.2954|0.2954	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.995;0.99;0.997;0.997	T|T	0.74306|0.74306	-0.3708|-0.3708	5|10	.|0.87932	.|D	.|0	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;266;234;253	.|Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.|.;NPAS3_HUMAN;.;.	K|Q	13|243;271;234;236;266;253	.|ENSP00000448373:R243Q;ENSP00000450392:R271Q;ENSP00000319610:R234Q;ENSP00000448916:R236Q;ENSP00000348460:R266Q;ENSP00000350446:R253Q	.|ENSP00000319610:R234Q	E|R	+|+	1|2	0|0	NPAS3|NPAS3	33274234|33274234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.672000|9.672000	0.98629|0.98629	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.478	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
EGLN3	112399	broad.mit.edu	37	14	34400399	34400399	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:34400399C>T	ENST00000250457.3	-	2	708	c.380G>A	c.(379-381)gGa>gAa	p.G127E	EGLN3_ENST00000553215.1_Missense_Mutation_p.G33E	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	127	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.G127E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTTCCATTTCCCGGATAGCA	0.488																																					p.G127E	Esophageal Squamous(161;245 1904 13895 22565 30076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	14						.						114.0	102.0	106.0					14																	34400399		2203	4300	6503	33470150	SO:0001583	missense	112399	exon2			AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.380G>A	14.37:g.34400399C>T	ENSP00000250457:p.Gly127Glu	Somatic		Capture	Illumina HiSeq	Phase_I	33470150	NM_022073	Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	ENST00000250457.3	37	CCDS9646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256689	0.95336	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000553215;ENST00000487915	T;T;T	0.58940	0.3;0.3;0.3	5.71	5.71	0.89125	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.967	T	0.79642	-0.1718	10	0.56958	D	0.05	-4.6192	19.8677	0.96824	0.0:1.0:0.0:0.0	.	127;33	Q9H6Z9;F8W1G2	EGLN3_HUMAN;.	E	127;127;33;9	ENSP00000250457:G127E;ENSP00000447470:G33E;ENSP00000451316:G9E	ENSP00000250457:G127E	G	-	2	0	EGLN3	33470150	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.794000	0.85869	2.709000	0.92574	0.655000	0.94253	GGA		0.488	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1		
BAZ1A	11177	broad.mit.edu	37	14	35272172	35272172	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:35272172T>G	ENST00000382422.2	-	6	1076	c.749A>C	c.(748-750)aAa>aCa	p.K250T	AL355885.1_ENST00000581314.1_RNA|BAZ1A_ENST00000358716.4_Missense_Mutation_p.K250T|BAZ1A_ENST00000360310.1_Missense_Mutation_p.K250T			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	250					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.K250T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGCTATTTTATACGTTGA	0.358																																					p.K250T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A749C	14						.						113.0	117.0	116.0					14																	35272172		2203	4300	6503	34341923	SO:0001583	missense	11177	exon7			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.749A>C	14.37:g.35272172T>G	ENSP00000371859:p.Lys250Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34341923	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606905	0.46527	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.72615	-0.66;-0.67;-0.67	5.51	5.51	0.81932	.	0.221723	0.46145	D	0.000308	T	0.63224	0.2493	L	0.43152	1.355	0.33090	D	0.537879	B;B	0.26547	0.152;0.094	B;B	0.24394	0.053;0.024	T	0.70135	-0.4955	10	0.41790	T	0.15	.	13.6639	0.62382	0.0:0.0:0.0:1.0	.	250;250	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	T	250	ENSP00000351555:K250T;ENSP00000371859:K250T;ENSP00000353458:K250T	ENSP00000351555:K250T	K	-	2	0	BAZ1A	34341923	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.158000	0.50723	2.212000	0.71576	0.523000	0.50628	AAA		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
PPP2R3C	55012	broad.mit.edu	37	14	35554940	35554940	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:35554940G>T	ENST00000261475.5	-	13	1571	c.1218C>A	c.(1216-1218)atC>atA	p.I406I		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	406					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I406I(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CCTGAAGAGAGATTTTCAAAG	0.353																																					p.I406I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218A	14						.						93.0	89.0	91.0					14																	35554940		2203	4300	6503	34624691	SO:0001819	synonymous_variant	55012	exon13			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1218C>A	14.37:g.35554940G>T		Somatic		Capture	Illumina HiSeq	Phase_I	34624691	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Silent	SNP	ENST00000261475.5	37	CCDS9654.1																																																																																				0.353	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
PPP2R3C	55012	broad.mit.edu	37	14	35560282	35560282	+	Missense_Mutation	SNP	G	G	T	rs542312104		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:35560282G>T	ENST00000261475.5	-	11	1460	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	369	EF-hand 2.				activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F369L(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TTACCCTAAAGAAATAATTAA	0.373																																					p.F369L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1107A	14						.						98.0	103.0	102.0					14																	35560282		2203	4300	6503	34630033	SO:0001583	missense	55012	exon11			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1107C>A	14.37:g.35560282G>T	ENSP00000261475:p.Phe369Leu	Somatic		Capture	Illumina HiSeq	Phase_I	34630033	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045774	0.75846	.	.	ENSG00000092020	ENST00000261475	T	0.65178	-0.14	5.92	5.03	0.67393	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.80522	-0.1345	10	0.51188	T	0.08	-9.5159	15.4087	0.74900	0.0666:0.0:0.9334:0.0	.	369	Q969Q6	P2R3C_HUMAN	L	369	ENSP00000261475:F369L	ENSP00000261475:F369L	F	-	3	2	PPP2R3C	34630033	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	2.803000	0.47924	1.518000	0.48934	-0.133000	0.14855	TTC		0.373	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
SFTA3	253970	broad.mit.edu	37	14	36982324	36982324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:36982324C>A	ENST00000518529.2	-	1	710	c.35G>T	c.(34-36)aGg>aTg	p.R12M	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_5'UTR	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	12								p.R12M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						TACCTGGTCCCTAATGAGTTG	0.448																																					p.R12M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G35T	14						.						87.0	84.0	85.0					14																	36982324		1826	4078	5904	36052075	SO:0001583	missense	253970	exon1			AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.35G>T	14.37:g.36982324C>A	ENSP00000428331:p.Arg12Met	Somatic		Capture	Illumina HiSeq	Phase_I	36052075	NM_001101341		Missense_Mutation	SNP	ENST00000518529.2	37	CCDS45097.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760800	0.31137	.	.	ENSG00000229415	ENST00000518529	.	.	.	5.73	4.84	0.62591	.	.	.	.	.	T	0.66317	0.2777	.	.	.	0.27767	N	0.943633	D	0.89917	1.0	D	0.74023	0.982	T	0.61540	-0.7042	7	0.87932	D	0	.	11.8818	0.52579	0.0:0.92:0.0:0.08	.	12	P0C7M3	SFTA3_HUMAN	M	12	.	ENSP00000397304:R12M	R	-	2	0	SFTA3	36052075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.012000	0.49575	1.415000	0.47037	0.557000	0.71058	AGG		0.448	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376217.2	NM_001101341	
CLEC14A	161198	broad.mit.edu	37	14	38723830	38723830	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:38723830G>A	ENST00000342213.2	-	1	1744	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	466						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CACAGTCCCCGACTTTCACCC	0.597																																					p.V466V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1398T	14						.						74.0	76.0	76.0					14																	38723830		2203	4300	6503	37793581	SO:0001819	synonymous_variant	161198	exon1				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1398C>T	14.37:g.38723830G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37793581	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.597	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
CLEC14A	161198	broad.mit.edu	37	14	38724889	38724889	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:38724889G>T	ENST00000342213.2	-	1	685	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.F113L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGCCAGGAGAAACCCCGCA	0.687																																					p.F113L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C339A	14						.						19.0	26.0	23.0					14																	38724889		2196	4291	6487	37794640	SO:0001583	missense	161198	exon1				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.339C>A	14.37:g.38724889G>T	ENSP00000353013:p.Phe113Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37794640	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512861	0.85389	.	.	ENSG00000176435	ENST00000342213	T	0.57752	0.38	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.083842	0.46145	D	0.000313	T	0.60104	0.2243	L	0.57536	1.79	0.39221	D	0.963495	D	0.60160	0.987	P	0.53593	0.73	T	0.67887	-0.5554	10	0.87932	D	0	-19.6726	13.7192	0.62717	0.0:0.0:1.0:0.0	.	113	Q86T13	CLC14_HUMAN	L	113	ENSP00000353013:F113L	ENSP00000353013:F113L	F	-	3	2	CLEC14A	37794640	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.504000	0.35726	2.480000	0.83734	0.591000	0.81541	TTC		0.687	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
PNN	5411	broad.mit.edu	37	14	39650942	39650942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:39650942G>T	ENST00000216832.4	+	9	2096	c.2029G>T	c.(2029-2031)Gga>Tga	p.G677*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	677	Arg-rich.|Necessary for interaction with PPIG.|Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.G677*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGATACAAAAGGATCAAAGGA	0.418																																					p.G677X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2029T	14						.						82.0	84.0	83.0					14																	39650942		2203	4300	6503	38720693	SO:0001587	stop_gained	5411	exon9			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.2029G>T	14.37:g.39650942G>T	ENSP00000216832:p.Gly677*	Somatic		Capture	Illumina HiSeq	Phase_I	38720693	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936251	0.97122	.	.	ENSG00000100941	ENST00000216832	.	.	.	6.13	6.13	0.99165	.	0.050594	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.9647	15.9117	0.79477	0.0659:0.0:0.9341:0.0	.	.	.	.	X	677	.	ENSP00000216832:G677X	G	+	1	0	PNN	38720693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.979000	0.56888	2.932000	0.99384	0.644000	0.83932	GGA		0.418	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687	
MIA2	117153	broad.mit.edu	37	14	39706177	39706177	+	Missense_Mutation	SNP	G	G	A	rs545707783		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:39706177G>A	ENST00000280082.3	+	2	366	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R56Q|MIA2_ENST00000556784.1_Missense_Mutation_p.R56Q	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	56	SH3.				cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.R56Q(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CCTGACTGCCGATACCTGAAC	0.343																																					p.R56Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	14						.						83.0	78.0	80.0					14																	39706177		2203	4300	6503	38775928	SO:0001583	missense	117153	exon2			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.167G>A	14.37:g.39706177G>A	ENSP00000280082:p.Arg56Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38775928	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899748	0.52227	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.26	1.83	0.25207	.	0.592387	0.12781	N	0.439660	T	0.15478	0.0373	M	0.61703	1.905	0.23831	N	0.996723	D	0.56287	0.975	B	0.41813	0.367	T	0.12682	-1.0538	9	.	.	.	-13.789	9.9904	0.41868	0.0745:0.0:0.6827:0.2428	.	56	Q96PC5-2	.	Q	56	ENSP00000451883:R56Q;ENSP00000451217:R56Q;ENSP00000280082:R56Q;ENSP00000451934:R56Q;ENSP00000452252:R56Q	.	R	+	2	0	MIA2;RP11-407N17.3	38775928	0.982000	0.34865	0.321000	0.25320	0.954000	0.61252	2.639000	0.46570	0.566000	0.29273	0.655000	0.94253	CGA		0.343	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
MIA2	117153	broad.mit.edu	37	14	39717054	39717054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:39717054G>T	ENST00000280082.3	+	4	1475	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.E426*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.E425*	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	426					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.E426*(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAAAGAACAAGAAATAGAAAC	0.313																																					p.E426X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1276T	14						.						59.0	66.0	64.0					14																	39717054		2203	4299	6502	38786805	SO:0001587	stop_gained	117153	exon4			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1276G>T	14.37:g.39717054G>T	ENSP00000280082:p.Glu426*	Somatic		Capture	Illumina HiSeq	Phase_I	38786805	NM_054024	A1L4H0|Q9H6C1	Nonsense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344138	0.82022	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	.	.	.	5.49	2.64	0.31445	.	0.327512	0.22179	N	0.063535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6981	6.8425	0.23971	0.3433:0.0:0.6567:0.0	.	.	.	.	X	426;425;426	.	.	E	+	1	0	MIA2;RP11-407N17.3	38786805	0.982000	0.34865	0.998000	0.56505	0.285000	0.27093	0.841000	0.27613	0.670000	0.31165	0.655000	0.94253	GAA		0.313	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
CTAGE5	4253	broad.mit.edu	37	14	39762550	39762550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:39762550G>A	ENST00000280083.3	+	6	774	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	CTAGE5_ENST00000341749.3_Missense_Mutation_p.E142K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E689K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E159K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E154K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E125K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E125K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E79K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E154K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E74K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E125K			O15320	CTGE5_HUMAN	CTAGE family, member 5	154					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.E154K(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGAGTTAAAAGAAGAGAAATC	0.313																																					p.E125K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	14						.						37.0	42.0	40.0					14																	39762550		2195	4293	6488	38832301	SO:0001583	missense	4253	exon6			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.460G>A	14.37:g.39762550G>A	ENSP00000280083:p.Glu154Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38832301	NM_203356	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231149	0.79688	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;D;T;T	0.83837	1.42;1.42;1.42;1.42;1.42;1.42;2.34;1.42;-1.77;-0.54;1.42	4.95	4.05	0.47172	.	.	.	.	.	D	0.90410	0.6998	M	0.85197	2.74	0.30488	N	0.771626	D;D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.99;0.99	D;D;D;D;D;D	0.66497	0.925;0.944;0.928;0.944;0.928;0.944	D	0.87546	0.2462	8	.	.	.	.	10.7673	0.46301	0.0907:0.0:0.9093:0.0	.	116;159;154;154;125;142	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	689;116;142;74;116;125;154;159;154;79;154;125	ENSP00000452252:E689K;ENSP00000452395:E116K;ENSP00000343897:E142K;ENSP00000450869:E74K;ENSP00000379468:E125K;ENSP00000339286:E154K;ENSP00000379462:E159K;ENSP00000280083:E154K;ENSP00000452562:E79K;ENSP00000343912:E154K;ENSP00000450449:E125K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38832301	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	2.493000	0.45320	1.208000	0.43306	0.462000	0.41574	GAA		0.313	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	
CTAGE5	4253	broad.mit.edu	37	14	39790184	39790184	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:39790184A>G	ENST00000280083.3	+	19	1910	c.1596A>G	c.(1594-1596)agA>agG	p.R532R	CTAGE5_ENST00000341749.3_Silent_p.R520R|RP11-407N17.3_ENST00000553728.1_Silent_p.R1067R|CTAGE5_ENST00000396158.2_Silent_p.R537R|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Silent_p.R503R|RP11-407N17.3_ENST00000603904.1_Silent_p.R503R|CTAGE5_ENST00000556148.1_Silent_p.R457R|CTAGE5_ENST00000341502.5_Silent_p.R532R|CTAGE5_ENST00000557038.1_Silent_p.R452R|CTAGE5_ENST00000396165.4_Silent_p.R503R			O15320	CTGE5_HUMAN	CTAGE family, member 5	532	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.R532R(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CTGAAACAAGAGCTTTTCTCT	0.413																																					p.R503R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1509G	14						.						105.0	109.0	107.0					14																	39790184		2203	4300	6503	38859935	SO:0001819	synonymous_variant	4253	exon19			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1596A>G	14.37:g.39790184A>G		Somatic		Capture	Illumina HiSeq	Phase_I	38859935	NM_203356	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																				0.413	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	
LRFN5	145581	broad.mit.edu	37	14	42360695	42360695	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:42360695T>C	ENST00000298119.4	+	4	2817	c.1628T>C	c.(1627-1629)gTa>gCa	p.V543A	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	543						integral component of membrane (GO:0016021)		p.V543A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCTGTGCTGGTATTCATCATT	0.413										HNSCC(30;0.082)																											p.V543A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1628C	14						.						158.0	152.0	154.0					14																	42360695		2203	4300	6503	41430445	SO:0001583	missense	145581	exon4			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1628T>C	14.37:g.42360695T>C	ENSP00000298119:p.Val543Ala	Somatic		Capture	Illumina HiSeq	Phase_I	41430445	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519185	0.44866	.	.	ENSG00000165379	ENST00000298119	T	0.54675	0.56	5.87	5.87	0.94306	.	0.000000	0.50627	D	0.000104	T	0.42471	0.1204	L	0.31578	0.945	0.80722	D	1	P	0.36837	0.571	B	0.35312	0.2	T	0.42899	-0.9424	10	0.52906	T	0.07	.	14.2151	0.65788	0.0:0.0:0.0:1.0	.	543	Q96NI6	LRFN5_HUMAN	A	543	ENSP00000298119:V543A	ENSP00000298119:V543A	V	+	2	0	LRFN5	41430445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.285000	0.51716	2.239000	0.73571	0.528000	0.53228	GTA		0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FSCB	84075	broad.mit.edu	37	14	44974692	44974692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:44974692G>T	ENST00000340446.4	-	1	1790	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	500	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S500Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTCTTCTGCAGAAGTCTCCTC	0.512																																					p.S500Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1499A	14						.						34.0	33.0	34.0					14																	44974692		2203	4299	6502	44044442	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1499C>A	14.37:g.44974692G>T	ENSP00000344579:p.Ser500Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	44044442	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739972	0.30865	.	.	ENSG00000189139	ENST00000340446	T	0.21734	1.99	4.97	-1.25	0.09405	.	.	.	.	.	T	0.17959	0.0431	L	0.29908	0.895	0.09310	N	1	D	0.59767	0.986	P	0.50162	0.633	T	0.16600	-1.0397	9	0.48119	T	0.1	-0.0173	5.7774	0.18287	0.3909:0.1306:0.4786:0.0	.	500	Q5H9T9	FSCB_HUMAN	Y	500	ENSP00000344579:S500Y	ENSP00000344579:S500Y	S	-	2	0	FSCB	44044442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.458000	0.21892	-0.202000	0.10268	-0.206000	0.12725	TCT		0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
FSCB	84075	broad.mit.edu	37	14	44975650	44975650	+	Missense_Mutation	SNP	C	C	A	rs527611726		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:44975650C>A	ENST00000340446.4	-	1	832	c.541G>T	c.(541-543)Gcc>Tcc	p.A181S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	181						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A181S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGTTTCAGGGCATCTTCCTTT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19935	0.0		0.001	False		,,,				2504	0.0				p.A181S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541T	14						.						155.0	160.0	158.0					14																	44975650		2203	4300	6503	44045400	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.541G>T	14.37:g.44975650C>A	ENSP00000344579:p.Ala181Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44045400	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264927	0.23136	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25250	1.81	4.6	0.698	0.18087	.	.	.	.	.	T	0.17066	0.0410	L	0.40543	1.245	0.09310	N	1	P	0.36712	0.566	B	0.33042	0.157	T	0.14200	-1.0481	9	0.42905	T	0.14	4.235	5.5398	0.17031	0.0:0.4765:0.0:0.5235	.	181	Q5H9T9	FSCB_HUMAN	S	181	ENSP00000344579:A181S	ENSP00000344579:A181S	A	-	1	0	FSCB	44045400	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.296000	0.08287	0.329000	0.23460	0.655000	0.94253	GCC		0.378	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
KLHL28	54813	broad.mit.edu	37	14	45403393	45403393	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45403393C>A	ENST00000396128.4	-	3	1387	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	KLHL28_ENST00000355081.2_Missense_Mutation_p.R437I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	423								p.R423I(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAACAACTTCTTGTTGTCGT	0.393																																					p.R423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268T	14						.						102.0	93.0	96.0					14																	45403393		2203	4300	6503	44473143	SO:0001583	missense	54813	exon3			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1268G>T	14.37:g.45403393C>A	ENSP00000379434:p.Arg423Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44473143	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804466	0.90623	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	D;D	0.85171	-1.95;-1.95	5.58	5.58	0.84498	Kelch-type beta propeller (1);	0.045975	0.85682	D	0.000000	D	0.96349	0.8809	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98173	1.0453	10	0.87932	D	0	.	19.1559	0.93510	0.0:1.0:0.0:0.0	.	423	Q9NXS3	KLH28_HUMAN	I	423;437	ENSP00000379434:R423I;ENSP00000347193:R437I	ENSP00000347193:R437I	R	-	2	0	KLHL28	44473143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.159000	0.77483	2.612000	0.88384	0.557000	0.71058	AGA		0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
KLHL28	54813	broad.mit.edu	37	14	45403558	45403558	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45403558G>T	ENST00000396128.4	-	3	1222	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	KLHL28_ENST00000355081.2_Missense_Mutation_p.S382Y	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	368								p.S368Y(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCTCTAGAGAAGTCCAAGT	0.393																																					p.S368Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1103A	14						.						122.0	114.0	117.0					14																	45403558		2203	4300	6503	44473308	SO:0001583	missense	54813	exon3			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1103C>A	14.37:g.45403558G>T	ENSP00000379434:p.Ser368Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	44473308	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234027	0.58886	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.77358	-1.09;-1.09	5.38	5.38	0.77491	Kelch-type beta propeller (1);	0.052712	0.85682	D	0.000000	T	0.79964	0.4537	L	0.41573	1.285	0.80722	D	1	D	0.56287	0.975	P	0.52109	0.69	T	0.81521	-0.0895	10	0.62326	D	0.03	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	368	Q9NXS3	KLH28_HUMAN	Y	368;382	ENSP00000379434:S368Y;ENSP00000347193:S382Y	ENSP00000347193:S382Y	S	-	2	0	KLHL28	44473308	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.995000	0.93534	2.671000	0.90904	0.557000	0.71058	TCT		0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
FAM179B	23116	broad.mit.edu	37	14	45432409	45432409	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45432409G>A	ENST00000361577.3	+	1	999	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.R262Q|FAM179B_ENST00000382233.2_Missense_Mutation_p.R262Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	262								p.R262Q(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCCCTAGCCCGAAAGCTTGGT	0.483																																					p.R262Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785A	14						.						97.0	100.0	99.0					14																	45432409		2203	4300	6503	44502159	SO:0001583	missense	23116	exon1			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.785G>A	14.37:g.45432409G>A	ENSP00000355045:p.Arg262Gln	Somatic		Capture	Illumina HiSeq	Phase_I	44502159	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264084	0.80358	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.57273	0.41;0.41;0.41	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.40064	N	0.001198	T	0.56572	0.1994	N	0.19112	0.55	0.29148	N	0.878561	D;D;D;D	0.89917	0.998;0.999;1.0;0.998	P;D;D;P	0.74023	0.901;0.975;0.982;0.901	T	0.53947	-0.8366	10	0.44086	T	0.13	-7.6101	13.7639	0.62983	0.0:0.0:1.0:0.0	.	262;262;262;262	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	Q	262	ENSP00000355045:R262Q;ENSP00000354917:R262Q;ENSP00000371668:R262Q	ENSP00000354917:R262Q	R	+	2	0	FAM179B	44502159	0.987000	0.35691	0.997000	0.53966	0.993000	0.82548	3.318000	0.51975	2.619000	0.88677	0.561000	0.74099	CGA		0.483	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FAM179B	23116	broad.mit.edu	37	14	45542738	45542738	+	Missense_Mutation	SNP	G	G	A	rs569609689	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45542738G>A	ENST00000361577.3	+	19	5351	c.5137G>A	c.(5137-5139)Gat>Aat	p.D1713N	FAM179B_ENST00000361462.2_Missense_Mutation_p.D1766N|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1713								p.D1713N(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAATTACTCGATATGACAAT	0.313													G|||	2	0.000399361	0.0	0.0	5008	,	,		17918	0.0		0.0	False		,,,				2504	0.002				p.D1713N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5137A	14						.						60.0	59.0	59.0					14																	45542738		2203	4300	6503	44612488	SO:0001583	missense	23116	exon19			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5137G>A	14.37:g.45542738G>A	ENSP00000355045:p.Asp1713Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44612488	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918077	0.33815	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.16743	2.32;2.32;2.32	5.93	4.12	0.48240	Armadillo-type fold (1);	0.242946	0.43416	N	0.000573	T	0.15435	0.0372	L	0.43923	1.385	0.80722	D	1	B;B	0.17268	0.004;0.021	B;B	0.09377	0.002;0.004	T	0.02909	-1.1095	10	0.46703	T	0.11	-9.937	11.0522	0.47896	0.1452:0.0:0.8548:0.0	.	1766;1713	G3XAE9;Q9Y4F4	.;F179B_HUMAN	N	1713;1766;148	ENSP00000355045:D1713N;ENSP00000354917:D1766N;ENSP00000450465:D148N	ENSP00000354917:D1766N	D	+	1	0	FAM179B	44612488	1.000000	0.71417	0.741000	0.31004	0.929000	0.56500	4.017000	0.57167	0.858000	0.35431	-0.137000	0.14449	GAT		0.313	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FANCM	57697	broad.mit.edu	37	14	45644519	45644519	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45644519G>T	ENST00000267430.5	+	14	2647	c.2562G>T	c.(2560-2562)aaG>aaT	p.K854N	FANCM_ENST00000542564.2_Missense_Mutation_p.K828N	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	854					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.K854N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTCTTTAAAGAAAAAAGTGT	0.279								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.K854N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2562T	14						.						28.0	31.0	30.0					14																	45644519		2194	4286	6480	44714269	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2562G>T	14.37:g.45644519G>T	ENSP00000267430:p.Lys854Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44714269	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886483	0.17540	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18338	2.8;2.81;2.22	5.23	-0.0322	0.13906	.	1.106480	0.06734	N	0.777216	T	0.14960	0.0361	L	0.51422	1.61	0.09310	N	1	P;P	0.45283	0.855;0.791	B;B	0.41571	0.36;0.198	T	0.24297	-1.0164	10	0.27082	T	0.32	.	3.727	0.08478	0.3369:0.0:0.3939:0.2691	.	828;854	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	N	854;828;370	ENSP00000267430:K854N;ENSP00000442493:K828N;ENSP00000452033:K370N	ENSP00000267430:K854N	K	+	3	2	FANCM	44714269	0.005000	0.15991	0.003000	0.11579	0.710000	0.40934	0.137000	0.15995	0.010000	0.14839	0.585000	0.79938	AAG		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FANCM	57697	broad.mit.edu	37	14	45668095	45668095	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:45668095A>C	ENST00000267430.5	+	22	6050	c.5965A>C	c.(5965-5967)Aat>Cat	p.N1989H	FANCM_ENST00000542564.2_Missense_Mutation_p.N1963H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1989	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.N1989H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AACTGCATTAAATATGTGTCA	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N1989H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5965C	14						.						44.0	49.0	48.0					14																	45668095		2203	4300	6503	44737845	SO:0001583	missense	57697	exon22	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5965A>C	14.37:g.45668095A>C	ENSP00000267430:p.Asn1989His	Somatic		Capture	Illumina HiSeq	Phase_I	44737845	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.85|16.85	3.235405|3.235405	0.58886|0.58886	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.14391	.|2.51;2.51;2.51	5.58|5.58	5.58|5.58	0.84498|0.84498	.|RuvA domain 2-like (1);	.|0.166526	.|0.53938	.|D	.|0.000047	T|T	0.35711|0.35711	0.0941|0.0941	M|M	0.75264|0.75264	2.295|2.295	0.35170|0.35170	D|D	0.771458|0.771458	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.51779|0.51779	-0.8662|-0.8662	5|10	.|0.66056	.|D	.|0.02	.|.	10.6202|10.6202	0.45476|0.45476	0.9242:0.0:0.0758:0.0|0.9242:0.0:0.0758:0.0	.|.	.|1963;1989	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	T|H	956|1989;1963;1505	.|ENSP00000267430:N1989H;ENSP00000442493:N1963H;ENSP00000452033:N1505H	.|ENSP00000267430:N1989H	K|N	+|+	2|1	0|0	FANCM|FANCM	44737845|44737845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	3.583000|3.583000	0.53928|0.53928	2.111000|2.111000	0.64477|0.64477	0.460000|0.460000	0.39030|0.39030	AAA|AAT		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
RPL10L	140801	broad.mit.edu	37	14	47120402	47120402	+	Missense_Mutation	SNP	C	C	T	rs61745038	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:47120402C>T	ENST00000298283.3	-	1	626	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	180					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.E180K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TCTTCAAATTCGTCAGCATTA	0.517													C|||	39	0.00778754	0.028	0.0029	5008	,	,		3540	0.0		0.0	False		,,,				2504	0.0				p.E180K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	14						.	C	LYS/GLU	81,4325	69.2+/-107.0	1,79,2123	100.0	97.0	98.0		538	3.7	0.9	14	dbSNP_129	98	0,8600		0,0,4300	yes	missense	RPL10L	NM_080746.2	56	1,79,6423	TT,TC,CC		0.0,1.8384,0.6228	benign	180/215	47120402	81,12925	2203	4300	6503	46190152	SO:0001583	missense	140801	exon1			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.538G>A	14.37:g.47120402C>T	ENSP00000298283:p.Glu180Lys	Somatic		Capture	Illumina HiSeq	Phase_I	46190152	NM_080746	Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	CCDS32071.1	14	0.00641025641025641	13	0.026422764227642278	1	0.0027624309392265192	0	0.0	0	0.0	C	14.23	2.472862	0.43942	0.018384	0.0	ENSG00000165496	ENST00000298283	T	0.73575	-0.76	4.57	3.68	0.42216	.	0.168310	0.50627	D	0.000108	T	0.47469	0.1447	M	0.66297	2.02	0.52099	D	0.999949	B	0.10296	0.003	B	0.09377	0.004	T	0.64063	-0.6495	10	0.52906	T	0.07	-22.1641	11.0819	0.48064	0.0:0.9092:0.0:0.0908	.	180	Q96L21	RL10L_HUMAN	K	180	ENSP00000298283:E180K	ENSP00000298283:E180K	E	-	1	0	RPL10L	46190152	0.950000	0.32346	0.886000	0.34754	0.518000	0.34316	2.127000	0.42035	1.537000	0.49254	0.655000	0.94253	GAA		0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1		
RPL10L	140801	broad.mit.edu	37	14	47120841	47120841	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:47120841G>T	ENST00000298283.3	-	1	187	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	33					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.I33I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537																																					p.I33I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99A	14						.						107.0	109.0	108.0					14																	47120841		2203	4300	6503	46190591	SO:0001819	synonymous_variant	140801	exon1			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.99C>A	14.37:g.47120841G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46190591	NM_080746	Q8IUD1	Silent	SNP	ENST00000298283.3	37	CCDS32071.1																																																																																				0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1		
MGAT2	4247	broad.mit.edu	37	14	50088493	50088493	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50088493C>T	ENST00000305386.2	+	1	1005	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	169					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)	p.F169F(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGGTGAATTTCTGTCCGGTTC	0.502																																					p.F169F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	14						.						86.0	95.0	92.0					14																	50088493		2203	4300	6503	49158243	SO:0001819	synonymous_variant	4247	exon1			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.507C>T	14.37:g.50088493C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49158243	NM_002408	B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	CCDS9690.1																																																																																				0.502	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408	
NEMF	9147	broad.mit.edu	37	14	50295440	50295440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50295440C>A	ENST00000298310.5	-	14	1767	c.1318G>T	c.(1318-1320)Gga>Tga	p.G440*	NEMF_ENST00000546046.1_Nonsense_Mutation_p.G440*|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Nonsense_Mutation_p.G398*			O60524	NEMF_HUMAN	nuclear export mediator factor	440					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.G440*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTCTTTTTTCCTTTTGGTGGT	0.353																																					p.G440X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1318T	14						.						81.0	78.0	79.0					14																	50295440		2203	4300	6503	49365190	SO:0001587	stop_gained	9147	exon14			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1318G>T	14.37:g.50295440C>A	ENSP00000298310:p.Gly440*	Somatic		Capture	Illumina HiSeq	Phase_I	49365190	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Nonsense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	37	6.119794	0.97300	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	.	.	.	5.63	5.63	0.86233	.	0.452012	0.21428	N	0.074717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-18.9995	19.6892	0.95991	0.0:1.0:0.0:0.0	.	.	.	.	X	440;398;440;211;398	.	ENSP00000298310:G440X	G	-	1	0	NEMF	49365190	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.895000	0.75660	2.669000	0.90835	0.591000	0.81541	GGA		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NEMF	9147	broad.mit.edu	37	14	50298056	50298056	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50298056C>A	ENST00000298310.5	-	11	1355	c.906G>T	c.(904-906)aaG>aaT	p.K302N	NEMF_ENST00000546046.1_Missense_Mutation_p.K302N|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.K260N			O60524	NEMF_HUMAN	nuclear export mediator factor	302					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.K302N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGCCTTCTATCTTGGAATAAA	0.323																																					p.K302N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G906T	14						.						117.0	121.0	119.0					14																	50298056		2202	4298	6500	49367806	SO:0001583	missense	9147	exon11			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.906G>T	14.37:g.50298056C>A	ENSP00000298310:p.Lys302Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49367806	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549174	0.45383	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.42	2.62	0.31277	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	M	0.86420	2.815	0.80722	D	1	P;B;B;P;B	0.36412	0.552;0.185;0.203;0.516;0.069	B;B;B;B;B	0.38458	0.274;0.205;0.135;0.209;0.142	T	0.38286	-0.9668	10	0.25751	T	0.34	-8.1489	10.3265	0.43796	0.0:0.783:0.0:0.217	.	302;73;277;260;302	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	N	302;260;302;73;260	ENSP00000298310:K302N;ENSP00000438309:K260N;ENSP00000441016:K302N;ENSP00000452540:K260N	ENSP00000298310:K302N	K	-	3	2	NEMF	49367806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.296000	0.33389	0.267000	0.21916	0.585000	0.79938	AAG		0.323	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
ARF6	382	broad.mit.edu	37	14	50360545	50360545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50360545T>C	ENST00000298316.5	+	2	638	c.91T>C	c.(91-93)Tac>Cac	p.Y31H		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	31					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)	p.Y31H(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					AACAATCCTGTACAAGTTGAA	0.527																																					p.Y31H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T91C	14						.						79.0	77.0	78.0					14																	50360545		2203	4300	6503	49430295	SO:0001583	missense	382	exon2				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.91T>C	14.37:g.50360545T>C	ENSP00000298316:p.Tyr31His	Somatic		Capture	Illumina HiSeq	Phase_I	49430295	NM_001663	P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948893	0.73787	.	.	ENSG00000165527	ENST00000298316	D	0.82344	-1.6	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.91700	0.5373	10	0.72032	D	0.01	-6.0547	14.0366	0.64649	0.0:0.0:0.0:1.0	.	31	P62330	ARF6_HUMAN	H	31	ENSP00000298316:Y31H	ENSP00000298316:Y31H	Y	+	1	0	ARF6	49430295	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	1.729000	0.51567	0.402000	0.26972	TAC		0.527	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663	
SOS2	6655	broad.mit.edu	37	14	50605396	50605396	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50605396T>G	ENST00000216373.5	-	18	3166	c.2892A>C	c.(2890-2892)gaA>gaC	p.E964D	SOS2_ENST00000543680.1_Missense_Mutation_p.E931D	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	964	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E964D(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTCCAGTAATTTCAGCTACTT	0.313																																					p.E964D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2892C	14						.						89.0	87.0	88.0					14																	50605396		2202	4298	6500	49675146	SO:0001583	missense	6655	exon18			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2892A>C	14.37:g.50605396T>G	ENSP00000216373:p.Glu964Asp	Somatic		Capture	Illumina HiSeq	Phase_I	49675146	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529825	0.45073	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.33865	1.39;1.39	5.6	5.6	0.85130	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.49640	1.575	0.58432	D	0.99999	B;B	0.14438	0.01;0.01	B;B	0.15052	0.012;0.005	T	0.13019	-1.0525	10	0.52906	T	0.07	.	10.1734	0.42924	0.0:0.0744:0.0:0.9256	.	931;964	B7ZKT6;Q07890	.;SOS2_HUMAN	D	964;931	ENSP00000216373:E964D;ENSP00000445328:E931D	ENSP00000216373:E964D	E	-	3	2	SOS2	49675146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.147000	0.42226	2.133000	0.65898	0.533000	0.62120	GAA		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
SOS2	6655	broad.mit.edu	37	14	50606745	50606745	+	Silent	SNP	G	G	A	rs369410641		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50606745G>A	ENST00000216373.5	-	17	2974	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	SOS2_ENST00000543680.1_Silent_p.D867D	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	900	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D900D(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCACAGCTTCGTCCAAAATTT	0.284																																					p.D900D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2700T	14						.	G		0,4404		0,0,2202	105.0	102.0	103.0		2700	4.3	1.0	14		103	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	SOS2	NM_006939.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		900/1333	50606745	2,12998	2202	4298	6500	49676495	SO:0001819	synonymous_variant	6655	exon17			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2700C>T	14.37:g.50606745G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49676495	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.284	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
L2HGDH	79944	broad.mit.edu	37	14	50736036	50736036	+	Nonsense_Mutation	SNP	G	G	A	rs547796370		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50736036G>A	ENST00000267436.4	-	7	1148	c.751C>T	c.(751-753)Cga>Tga	p.R251*	L2HGDH_ENST00000421284.3_Nonsense_Mutation_p.R251*|L2HGDH_ENST00000261699.4_Nonsense_Mutation_p.R251*			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	251					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.R251*(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TACTGACATCGAATTTCCTCT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.001				p.R251X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C751T	14						.						100.0	97.0	98.0					14																	50736036		2203	4300	6503	49805786	SO:0001587	stop_gained	79944	exon7				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.751C>T	14.37:g.50736036G>A	ENSP00000267436:p.Arg251*	Somatic		Capture	Illumina HiSeq	Phase_I	49805786	NM_024884	Q9BRR1	Nonsense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948469	0.92593	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	.	.	.	4.95	4.95	0.65309	.	0.417365	0.28393	N	0.015518	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.789	13.0067	0.58710	0.0869:0.0:0.9131:0.0	.	.	.	.	X	251	.	ENSP00000261699:R251X	R	-	1	2	L2HGDH	49805786	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	4.078000	0.57606	2.681000	0.91329	0.650000	0.86243	CGA		0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884	
MAP4K5	11183	broad.mit.edu	37	14	50952900	50952900	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50952900G>T	ENST00000013125.4	-	4	497	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S60Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTGAATCAAAGAAAAATCATC	0.279																																					p.S60Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179A	14						.						54.0	49.0	51.0					14																	50952900		1772	3965	5737	50022650	SO:0001583	missense	11183	exon4			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.179C>A	14.37:g.50952900G>T	ENSP00000013125:p.Ser60Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	50022650	NM_006575	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	G	19.04	3.750050	0.69533	.	.	ENSG00000012983	ENST00000013125;ENST00000557390	T;T	0.66099	-0.19;-0.19	5.26	5.26	0.73747	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	0.73705	0.3621	L	0.41236	1.265	0.80722	D	1	D;D	0.76494	0.967;0.999	D;D	0.87578	0.934;0.998	T	0.76389	-0.2977	10	0.87932	D	0	.	18.4562	0.90721	0.0:0.0:1.0:0.0	.	60;60	B2R928;Q9Y4K4	.;M4K5_HUMAN	Y	60	ENSP00000013125:S60Y;ENSP00000451980:S60Y	ENSP00000013125:S60Y	S	-	2	0	MAP4K5	50022650	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.999000	0.76283	2.470000	0.83445	0.591000	0.81541	TCT		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	
ATL1	51062	broad.mit.edu	37	14	51058272	51058272	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:51058272A>G	ENST00000358385.6	+	4	678	c.437A>G	c.(436-438)gAt>gGt	p.D146G	ATL1_ENST00000354525.4_Missense_Mutation_p.D146G|ATL1_ENST00000357032.3_Missense_Mutation_p.D146G|ATL1_ENST00000441560.2_Missense_Mutation_p.D146G	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	146	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.D146G(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTATTGATGGATACTCAGGGA	0.363																																					p.D146G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A437G	14						.						137.0	127.0	130.0					14																	51058272		2203	4300	6503	50128022	SO:0001583	missense	51062	exon4			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.437A>G	14.37:g.51058272A>G	ENSP00000351155:p.Asp146Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50128022	NM_181598	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585229	0.86748	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525;ENST00000554886	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.49	5.49	0.81192	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97278	0.9110	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98175	1.0454	10	0.87932	D	0	-19.0418	14.7793	0.69754	1.0:0.0:0.0:0.0	.	146;146	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	G	146;146;146;146;2	ENSP00000413675:D146G;ENSP00000351155:D146G;ENSP00000349534:D146G;ENSP00000346522:D146G;ENSP00000452074:D2G	ENSP00000346522:D146G	D	+	2	0	ATL1	50128022	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.221000	0.95188	2.088000	0.63022	0.477000	0.44152	GAT		0.363	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2		
PYGL	5836	broad.mit.edu	37	14	51378515	51378515	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:51378515G>A	ENST00000216392.7	-	16	2234	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D	PYGL_ENST00000544180.2_Silent_p.D600D|PYGL_ENST00000532462.1_Silent_p.D634D|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	634					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.D634D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CAACCATAGGGTCATTGTTCA	0.448																																					p.D634D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	14						.						110.0	99.0	103.0					14																	51378515		2203	4300	6503	50448265	SO:0001819	synonymous_variant	5836	exon16				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1902C>T	14.37:g.51378515G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50448265	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A	rs199688614		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TAGTCTTCACGATGTCTGAGT	0.473																																					p.I463I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	14						.						263.0	226.0	239.0					14																	51382068		2203	4300	6503	50451818	SO:0001819	synonymous_variant	5836	exon11				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1389C>T	14.37:g.51382068G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50451818	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.473	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
TRIM9	114088	broad.mit.edu	37	14	51448749	51448749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:51448749G>A	ENST00000298355.3	-	8	2797	c.1676C>T	c.(1675-1677)aCc>aTc	p.T559I	TRIM9_ENST00000557456.1_5'Flank|TRIM9_ENST00000338969.5_Missense_Mutation_p.T640I	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	559	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T559I(1)|p.T640I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTACTACAGGTCACTGTCAG	0.547																																					p.T559I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1676T	14						.						113.0	93.0	100.0					14																	51448749		2203	4300	6503	50518499	SO:0001583	missense	114088	exon8			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1676C>T	14.37:g.51448749G>A	ENSP00000298355:p.Thr559Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50518499	NM_015163	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722302	0.48728	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.74737	-0.87;-0.49	6.08	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.084905	0.85682	D	0.000000	D	0.84727	0.5536	M	0.75615	2.305	0.80722	D	1	D;P	0.60160	0.987;0.932	P;P	0.62813	0.907;0.757	D	0.86249	0.1648	10	0.56958	D	0.05	.	16.4654	0.84077	0.0:0.1312:0.8688:0.0	.	640;559	Q9C026-4;Q9C026	.;TRIM9_HUMAN	I	559;640	ENSP00000298355:T559I;ENSP00000342970:T640I	ENSP00000298355:T559I	T	-	2	0	TRIM9	50518499	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.912000	0.87465	1.560000	0.49568	-0.282000	0.10007	ACC		0.547	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
FRMD6	122786	broad.mit.edu	37	14	52171626	52171626	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:52171626C>T	ENST00000344768.5	+	6	727	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FRMD6_ENST00000554167.1_Silent_p.F100F|FRMD6_ENST00000356218.4_Silent_p.F169F|FRMD6_ENST00000395718.2_Silent_p.F169F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.F169F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAAATACTTCGAGCCAGAGG	0.473																																					p.F169F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	14						.						61.0	64.0	63.0					14																	52171626		2203	4300	6503	51241376	SO:0001819	synonymous_variant	122786	exon7			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.531C>T	14.37:g.52171626C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51241376	NM_001042481	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																				0.473	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
FRMD6	122786	broad.mit.edu	37	14	52186820	52186820	+	Missense_Mutation	SNP	G	G	A	rs562518158		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:52186820G>A	ENST00000344768.5	+	11	1268	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	FRMD6_ENST00000554167.1_Missense_Mutation_p.D281N|FRMD6_ENST00000553556.1_5'UTR|FRMD6_ENST00000356218.4_Missense_Mutation_p.D350N|FRMD6_ENST00000395718.2_Missense_Mutation_p.D350N			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	358					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.D350N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGGACCTCGACATGGACCA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17675	0.001		0.0	False		,,,				2504	0.0				p.D350N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	14						.						63.0	61.0	62.0					14																	52186820		2203	4300	6503	51256570	SO:0001583	missense	122786	exon12			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1072G>A	14.37:g.52186820G>A	ENSP00000343899:p.Asp358Asn	Somatic		Capture	Illumina HiSeq	Phase_I	51256570	NM_001042481	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593816	0.86953	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90068	0.6898	M	0.62723	1.935	0.80722	D	1	D;D;D	0.65815	0.995;0.991;0.995	D;P;D	0.66716	0.928;0.849;0.946	D	0.88017	0.2766	10	0.42905	T	0.14	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	281;358;350	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	N	350;350;358;281;88	ENSP00000348550:D350N;ENSP00000379068:D350N;ENSP00000343899:D358N;ENSP00000451977:D281N;ENSP00000451157:D88N	ENSP00000343899:D358N	D	+	1	0	FRMD6	51256570	1.000000	0.71417	0.969000	0.41365	0.180000	0.23129	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAC		0.572	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
FRMD6	122786	broad.mit.edu	37	14	52192521	52192521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:52192521C>A	ENST00000344768.5	+	13	1713	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y	FRMD6_ENST00000554167.1_Missense_Mutation_p.S429Y|FRMD6_ENST00000553556.1_Missense_Mutation_p.S148Y|FRMD6_ENST00000356218.4_Missense_Mutation_p.S498Y|FRMD6_ENST00000395718.2_Missense_Mutation_p.S498Y|RNU6-301P_ENST00000384277.1_RNA			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	506	Poly-Ser.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S498Y(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAATTGGGTCTTCCACCTCG	0.348																																					p.S498Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1493A	14						.						116.0	117.0	117.0					14																	52192521		2203	4300	6503	51262271	SO:0001583	missense	122786	exon14			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1517C>A	14.37:g.52192521C>A	ENSP00000343899:p.Ser506Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51262271	NM_001042481	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909519	0.92107	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	T;T;T;T	0.78481	-1.18;-1.18;-0.96;-0.76	5.83	5.83	0.93111	.	0.115623	0.64402	D	0.000012	D	0.84142	0.5407	L	0.40543	1.245	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;P;P	0.65443	0.935;0.862;0.904	D	0.84382	0.0550	10	0.72032	D	0.01	.	20.1582	0.98126	0.0:1.0:0.0:0.0	.	429;506;498	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Y	498;498;506;429;148	ENSP00000348550:S498Y;ENSP00000379068:S498Y;ENSP00000343899:S506Y;ENSP00000451977:S429Y	ENSP00000343899:S506Y	S	+	2	0	FRMD6	51262271	1.000000	0.71417	0.994000	0.49952	0.939000	0.58152	6.629000	0.74267	2.937000	0.99478	0.650000	0.86243	TCT		0.348	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
NID2	22795	broad.mit.edu	37	14	52477691	52477691	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:52477691T>A	ENST00000216286.5	-	18	3624	c.3625A>T	c.(3625-3627)Aag>Tag	p.K1209*	NID2_ENST00000541773.1_Nonsense_Mutation_p.K1108*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1209					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.K1209*(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCTCTATCTTATCCAGGACA	0.532																																					p.K1209X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A3625T	14						.						132.0	120.0	124.0					14																	52477691		2203	4300	6503	51547441	SO:0001587	stop_gained	22795	exon18			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3625A>T	14.37:g.52477691T>A	ENSP00000216286:p.Lys1209*	Somatic		Capture	Illumina HiSeq	Phase_I	51547441	NM_007361	A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.866016|5.866016	0.97043|0.97043	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773|ENST00000556572	.|.	.|.	.|.	6.04|6.04	4.87|4.87	0.63330|0.63330	.|.	0.424177|.	0.30483|.	N|.	0.009523|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	13.6162|13.6162	0.62110|0.62110	0.0:0.0:0.1291:0.8709|0.0:0.0:0.1291:0.8709	.|.	.|.	.|.	.|.	X|L	1209;803;1108|477	.|.	ENSP00000216286:K1209X|.	K|X	-|-	1|2	0|2	NID2|NID2	51547441|51547441	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.667000|0.667000	0.39255|0.39255	1.465000|1.465000	0.35299|0.35299	1.071000|1.071000	0.40834|0.40834	0.459000|0.459000	0.35465|0.35465	AAG|TAA		0.532	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
PTGER2	5732	broad.mit.edu	37	14	52781620	52781620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:52781620C>A	ENST00000245457.5	+	1	508	c.354C>A	c.(352-354)ttC>ttA	p.F118L	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	118					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.F118L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCATGACCTTCTTCAGCCTGG	0.657																																					p.F118L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C354A	14						.						57.0	52.0	54.0					14																	52781620		2198	4289	6487	51851370	SO:0001583	missense	5732	exon1				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.354C>A	14.37:g.52781620C>A	ENSP00000245457:p.Phe118Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51851370	NM_000956	D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636184	0.87760	.	.	ENSG00000125384	ENST00000245457	T	0.70045	-0.45	5.09	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.78285	2.405	0.51767	D	0.999931	D	0.89917	1.0	D	0.91635	0.999	T	0.81906	-0.0718	10	0.62326	D	0.03	-38.3747	11.67	0.51395	0.0:0.9123:0.0:0.0877	.	118	P43116	PE2R2_HUMAN	L	118	ENSP00000245457:F118L	ENSP00000245457:F118L	F	+	3	2	PTGER2	51851370	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.294000	0.51787	1.280000	0.44463	-0.253000	0.11424	TTC		0.657	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1		
GMFB	2764	broad.mit.edu	37	14	54950478	54950478	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:54950478G>T	ENST00000358056.3	-	2	279	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	GMFB_ENST00000554908.1_Missense_Mutation_p.S4Y|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	4	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)	p.S4Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						AACAACCAAAGACTCACTCTA	0.318																																					p.S4Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11A	14						.						50.0	48.0	49.0					14																	54950478		2202	4300	6502	54020228	SO:0001583	missense	2764	exon2			M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.11C>A	14.37:g.54950478G>T	ENSP00000350757:p.Ser4Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54020228	NM_004124	B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876852	0.91664	.	.	ENSG00000197045	ENST00000554908;ENST00000358056;ENST00000354747;ENST00000553333	T;T	0.32023	1.47;1.47	5.45	5.45	0.79879	Actin-binding, cofilin/tropomyosin type (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.79805	2.47	0.80722	D	1	D	0.58970	0.984	P	0.58873	0.847	T	0.60949	-0.7161	10	0.87932	D	0	3.0093	18.6184	0.91312	0.0:0.0:1.0:0.0	.	4	P60983	GMFB_HUMAN	Y	4;4;4;16	ENSP00000350757:S4Y;ENSP00000451920:S16Y	ENSP00000346789:S4Y	S	-	2	0	GMFB	54020228	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.963000	0.93385	2.718000	0.92993	0.591000	0.81541	TCT		0.318	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124	
EXOC5	10640	broad.mit.edu	37	14	57696579	57696579	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:57696579C>T	ENST00000413566.2	-	12	1528	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	EXOC5_ENST00000340918.7_Missense_Mutation_p.R325K	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	390					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R392K(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CTGTCTAATTCTTTCCTTCAA	0.338																																					p.R390K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169A	14						.						58.0	53.0	55.0					14																	57696579		1827	4031	5858	56766332	SO:0001583	missense	10640	exon12			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1169G>A	14.37:g.57696579C>T	ENSP00000389934:p.Arg390Lys	Somatic		Capture	Illumina HiSeq	Phase_I	56766332	NM_006544	B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.976015	0.34848	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.42513	0.98;0.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.33485	1.01	0.80722	D	1	B;B	0.29136	0.234;0.049	B;B	0.29524	0.09;0.103	T	0.14531	-1.0469	10	0.05620	T	0.96	-11.0736	19.2545	0.93940	0.0:1.0:0.0:0.0	.	325;390	F8W9B8;O00471	.;EXOC5_HUMAN	K	390;325	ENSP00000389934:R390K;ENSP00000342100:R325K	ENSP00000342100:R325K	R	-	2	0	EXOC5	56766332	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.094000	0.71431	2.551000	0.86045	0.585000	0.79938	AGA		0.338	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544	
C14orf105	55195	broad.mit.edu	37	14	57957714	57957714	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:57957714C>A	ENST00000216445.3	-	2	435	c.299G>T	c.(298-300)aGa>aTa	p.R100I	C14orf105_ENST00000422976.2_Missense_Mutation_p.R100I|C14orf105_ENST00000534126.1_Missense_Mutation_p.R100I|C14orf105_ENST00000526336.1_Missense_Mutation_p.R100I	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	100								p.R100I(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TACTTGAAGTCTTTGGGGTGG	0.353																																					p.R100I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G299T	14						.						169.0	168.0	168.0					14																	57957714		2203	4300	6503	57027467	SO:0001583	missense	55195	exon2			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.299G>T	14.37:g.57957714C>A	ENSP00000216445:p.Arg100Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57027467	NM_018168	Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443690	0.83993	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.79329	0.4427	M	0.72894	2.215	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80231	-0.1468	10	0.87932	D	0	-18.5116	17.8003	0.88585	0.0:1.0:0.0:0.0	.	100;100;100;100	F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;CN105_HUMAN	I	100	ENSP00000216445:R100I;ENSP00000392368:R100I;ENSP00000434003:R100I;ENSP00000436517:R100I	ENSP00000216445:R100I	R	-	2	0	C14orf105	57027467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.545000	0.60698	2.809000	0.96659	0.650000	0.86243	AGA		0.353	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168	
C14orf37	145407	broad.mit.edu	37	14	58600059	58600059	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:58600059T>G	ENST00000267485.7	-	3	1564	c.1370A>C	c.(1369-1371)gAc>gCc	p.D457A	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	457						integral component of membrane (GO:0016021)		p.D457A(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTGATGATGTCTTAAAGGGG	0.398																																					p.D457A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1370C	14						.						93.0	96.0	95.0					14																	58600059		2203	4300	6503	57669812	SO:0001630	splice_region_variant	145407	exon3				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1370-1A>C	14.37:g.58600059T>G		Somatic		Capture	Illumina HiSeq	Phase_I	57669812	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781690	0.49891	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.20881	2.04	5.59	1.99	0.26369	.	0.295770	0.31519	N	0.007508	T	0.22859	0.0552	M	0.62723	1.935	0.24462	N	0.99444	P;P;P;P	0.46277	0.733;0.875;0.875;0.875	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	T	0.09292	-1.0681	10	0.62326	D	0.03	.	6.8252	0.23878	0.0:0.2634:0.0:0.7366	.	495;457;457;457	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	A	457;495	ENSP00000267485:D457A	ENSP00000267485:D457A	D	-	2	0	C14orf37	57669812	0.936000	0.31750	0.883000	0.34634	0.901000	0.52897	0.929000	0.28844	0.403000	0.25479	-0.360000	0.07572	GAC		0.398	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Missense_Mutation
ARID4A	5926	broad.mit.edu	37	14	58796260	58796260	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:58796260G>A	ENST00000355431.3	+	10	1050	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ARID4A_ENST00000348476.3_Missense_Mutation_p.R226K|ARID4A_ENST00000395168.3_Missense_Mutation_p.R226K|ARID4A_ENST00000431317.2_Missense_Mutation_p.R226K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	226					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R226K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTATAGCAAGAAAGGACATT	0.294																																					p.R226K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	14						.						62.0	66.0	65.0					14																	58796260		2203	4297	6500	57866013	SO:0001583	missense	5926	exon10			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.677G>A	14.37:g.58796260G>A	ENSP00000347602:p.Arg226Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57866013	NM_023000	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319630	0.81469	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.15017	2.47;2.46;2.48;2.46	5.76	5.76	0.90799	RBB1NT (1);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.37850	1.14	0.58432	D	0.999999	D;D;D	0.58620	0.983;0.965;0.98	D;D;D	0.76575	0.988;0.976;0.944	T	0.00626	-1.1638	10	0.35671	T	0.21	-24.8605	18.1469	0.89661	0.0:0.0:1.0:0.0	.	226;226;226	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	226;226;226;189;226	ENSP00000347602:R226K;ENSP00000344556:R226K;ENSP00000378597:R226K;ENSP00000397368:R226K	ENSP00000344556:R226K	R	+	2	0	ARID4A	57866013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.190000	0.65104	2.724000	0.93272	0.650000	0.86243	AGA		0.294	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
ARID4A	5926	broad.mit.edu	37	14	58820473	58820473	+	Nonsense_Mutation	SNP	C	C	T	rs151193043		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:58820473C>T	ENST00000355431.3	+	17	2126	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R585*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R585*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R585*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	585					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R585*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAATATGGACGAGGGAAGAC	0.393																																					p.R585X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1753T	14						.						95.0	96.0	96.0					14																	58820473		2203	4300	6503	57890226	SO:0001587	stop_gained	5926	exon17			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1753C>T	14.37:g.58820473C>T	ENSP00000347602:p.Arg585*	Somatic		Capture	Illumina HiSeq	Phase_I	57890226	NM_023000	Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	42	9.819475	0.99272	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	.	.	.	5.78	5.78	0.91487	.	0.055872	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5325	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	X	585;585;585;585;263	.	ENSP00000344556:R585X	R	+	1	2	ARID4A	57890226	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.489000	0.45285	2.894000	0.99253	0.591000	0.81541	CGA		0.393	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
KIAA0586	9786	broad.mit.edu	37	14	58910794	58910794	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:58910794G>T	ENST00000556134.1	+	7	937	c.663G>T	c.(661-663)gaG>gaT	p.E221D	KIAA0586_ENST00000354386.6_Missense_Mutation_p.E289D|KIAA0586_ENST00000423743.3_Missense_Mutation_p.E192D|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E236D|KIAA0586_ENST00000538571.2_3'UTR|Y_RNA_ENST00000516389.1_RNA	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	221					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E289D(1)|p.E236D(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAAACAAGAGAAATTACATT	0.353																																					p.E236D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G708T	14						.						100.0	91.0	94.0					14																	58910794		1941	4145	6086	57980547	SO:0001583	missense	9786	exon6			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.663G>T	14.37:g.58910794G>T	ENSP00000452351:p.Glu221Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57980547	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161371	0.57368	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.84	4.94	0.65067	.	0.159354	0.44483	N	0.000446	T	0.70465	0.3227	M	0.62723	1.935	0.25338	N	0.98898	B;B;D;B;B;B	0.89917	0.047;0.082;1.0;0.082;0.082;0.047	B;B;D;B;B;B	0.83275	0.027;0.058;0.996;0.058;0.058;0.027	T	0.63422	-0.6641	10	0.66056	D	0.02	.	9.4223	0.38559	0.0716:0.0:0.7836:0.1448	.	96;96;289;236;221;192	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	D	289;221;192;151;236;96	ENSP00000346359:E289D;ENSP00000452351:E221D;ENSP00000399427:E192D;ENSP00000450855:E151D;ENSP00000261244:E236D	ENSP00000261244:E236D	E	+	3	2	KIAA0586	57980547	1.000000	0.71417	0.269000	0.24586	0.496000	0.33645	2.720000	0.47252	1.458000	0.47871	-0.188000	0.12872	GAG		0.353	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
PPM1A	5494	broad.mit.edu	37	14	60749518	60749518	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:60749518C>T	ENST00000395076.4	+	2	527	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	PPM1A_ENST00000325658.3_Missense_Mutation_p.R33C|PPM1A_ENST00000529574.1_Missense_Mutation_p.R33C|PPM1A_ENST00000325642.3_Missense_Mutation_p.R106C	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	33					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.R33C(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GCAAGGCTGGCGTGTTGAAAT	0.488																																					p.R33C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97T	14						.						407.0	365.0	379.0					14																	60749518		2203	4300	6503	59819271	SO:0001583	missense	5494	exon2			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.97C>T	14.37:g.60749518C>T	ENSP00000378514:p.Arg33Cys	Somatic		Capture	Illumina HiSeq	Phase_I	59819271	NM_021003	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646902	0.87958	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.75	5.75	0.90469	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.75628	-0.3252	10	0.87932	D	0	-3.536	19.9233	0.97095	0.0:1.0:0.0:0.0	.	33;33;33	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	C	106;33;33;33;33;33;33	ENSP00000327255:R106C;ENSP00000432966:R33C;ENSP00000378514:R33C;ENSP00000314850:R33C;ENSP00000431453:R33C;ENSP00000435398:R33C;ENSP00000435575:R33C	ENSP00000327255:R106C	R	+	1	0	PPM1A	59819271	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.118000	0.50414	2.704000	0.92352	0.591000	0.81541	CGT		0.488	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
PPM1A	5494	broad.mit.edu	37	14	60756556	60756556	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:60756556G>A	ENST00000395076.4	+	4	1415	c.985G>A	c.(985-987)Gac>Aac	p.D329N	PPM1A_ENST00000529574.1_Missense_Mutation_p.D329N|PPM1A_ENST00000325642.3_Missense_Mutation_p.D402N	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	329					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.D329N(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGGCGTCCCCGACTTAGTCCA	0.433																																					p.D329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	14						.						61.0	61.0	61.0					14																	60756556		2203	4300	6503	59826309	SO:0001583	missense	5494	exon4			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.985G>A	14.37:g.60756556G>A	ENSP00000378514:p.Asp329Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59826309	NM_021003	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374471	0.61735	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076	T;T;T	0.33654	1.4;1.44;1.44	5.36	5.36	0.76844	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.78223	2.4	0.80722	D	1	B;B	0.26672	0.081;0.156	B;B	0.20577	0.03;0.02	T	0.44221	-0.9342	10	0.54805	T	0.06	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	329;329	P35813;B2R8E4	PPM1A_HUMAN;.	N	402;329;329	ENSP00000327255:D402N;ENSP00000432966:D329N;ENSP00000378514:D329N	ENSP00000327255:D402N	D	+	1	0	PPM1A	59826309	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.813000	0.99286	2.669000	0.90835	0.585000	0.79938	GAC		0.433	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
C14orf39	317761	broad.mit.edu	37	14	60951765	60951765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:60951765C>T	ENST00000321731.3	-	2	191	c.32G>A	c.(31-33)aGa>aAa	p.R11K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	11					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.R11K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TAGCAAAAGTCTGTCCAAACT	0.279																																					p.R11K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32A	14						.						79.0	81.0	81.0					14																	60951765		2202	4298	6500	60021518	SO:0001583	missense	317761	exon2			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.32G>A	14.37:g.60951765C>T	ENSP00000324920:p.Arg11Lys	Somatic		Capture	Illumina HiSeq	Phase_I	60021518	NM_174978	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388111	0.42308	.	.	ENSG00000179008	ENST00000321731;ENST00000556799	T	0.20332	2.08	5.13	1.79	0.24919	.	0.247437	0.35124	N	0.003430	T	0.13628	0.0330	L	0.31207	0.915	0.26401	N	0.976427	B	0.27625	0.183	B	0.32465	0.146	T	0.16808	-1.0390	10	0.32370	T	0.25	-4.0575	5.4675	0.16652	0.0:0.6067:0.0:0.3933	.	11	Q8N1H7	S6OS1_HUMAN	K	11	ENSP00000324920:R11K	ENSP00000324920:R11K	R	-	2	0	C14orf39	60021518	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.298000	0.33412	0.673000	0.31224	0.655000	0.94253	AGA		0.279	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
SIX4	51804	broad.mit.edu	37	14	61180302	61180302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:61180302C>A	ENST00000216513.4	-	3	2228	c.2169G>T	c.(2167-2169)gaG>gaT	p.E723D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	723					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E723D(2)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATAAGAAATTCTCTTTCATGT	0.423																																					p.E723D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2169T	14						.						112.0	107.0	109.0					14																	61180302		2203	4300	6503	60250055	SO:0001583	missense	51804	exon3			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2169G>T	14.37:g.61180302C>A	ENSP00000216513:p.Glu723Asp	Somatic		Capture	Illumina HiSeq	Phase_I	60250055	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822237	0.50739	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.93811	-3.29;0.35	5.63	-0.73	0.11154	.	0.125415	0.36066	N	0.002808	T	0.82079	0.4959	N	0.19112	0.55	0.80722	D	1	B	0.32071	0.355	B	0.24974	0.057	T	0.68949	-0.5274	10	0.87932	D	0	.	2.4645	0.04549	0.1137:0.4621:0.1104:0.3139	.	723	Q9UIU6	SIX4_HUMAN	D	723;396	ENSP00000216513:E723D;ENSP00000451537:E396D	ENSP00000216513:E723D	E	-	3	2	SIX4	60250055	0.809000	0.29036	0.933000	0.37362	0.938000	0.57974	-0.229000	0.09098	-0.336000	0.08438	-0.471000	0.05019	GAG		0.423	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SIX4	51804	broad.mit.edu	37	14	61186643	61186643	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:61186643C>T	ENST00000216513.4	-	2	1443	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	462					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A462T(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCTTGGGAAGCCACTGTTTGA	0.502																																					p.A462T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1384A	14						.						176.0	179.0	178.0					14																	61186643		2203	4300	6503	60256396	SO:0001583	missense	51804	exon2			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1384G>A	14.37:g.61186643C>T	ENSP00000216513:p.Ala462Thr	Somatic		Capture	Illumina HiSeq	Phase_I	60256396	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954778	0.73902	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.93811	-3.29;0.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	N	0.24115	0.695	0.46542	D	0.999091	D;D	0.57571	0.98;0.966	P;P	0.55011	0.766;0.588	D	0.91409	0.5149	10	0.46703	T	0.11	.	13.131	0.59382	0.0:0.9274:0.0:0.0726	.	454;462	G3V2N2;Q9UIU6	.;SIX4_HUMAN	T	462;135;454	ENSP00000216513:A462T;ENSP00000451537:A135T	ENSP00000216513:A462T	A	-	1	0	SIX4	60256396	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.322000	0.65852	2.717000	0.92951	0.655000	0.94253	GCT		0.502	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
KCNH5	27133	broad.mit.edu	37	14	63174245	63174245	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:63174245T>G	ENST00000322893.7	-	11	3216	c.2948A>C	c.(2947-2949)aAa>aCa	p.K983T		NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	983					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K983T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATTTCATCTTTGTCAGATTC	0.318																																					p.K983T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2948C	14						.						57.0	66.0	63.0					14																	63174245		2197	4300	6497	62243998	SO:0001583	missense	27133	exon11			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2948A>C	14.37:g.63174245T>G	ENSP00000321427:p.Lys983Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62243998	NM_139318	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796199	0.31777	.	.	ENSG00000140015	ENST00000322893	D	0.99060	-5.38	5.4	5.4	0.78164	.	0.199014	0.46145	D	0.000308	D	0.97213	0.9089	L	0.39898	1.24	0.80722	D	1	P	0.37914	0.611	B	0.35550	0.205	D	0.97953	1.0333	10	0.72032	D	0.01	.	15.7296	0.77790	0.0:0.0:0.0:1.0	.	983	Q8NCM2	KCNH5_HUMAN	T	983	ENSP00000321427:K983T	ENSP00000321427:K983T	K	-	2	0	KCNH5	62243998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.027000	0.70881	2.178000	0.69098	0.448000	0.29417	AAA		0.318	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
SYNE2	23224	broad.mit.edu	37	14	64497747	64497747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64497747G>A	ENST00000344113.4	+	45	7105	c.6893G>A	c.(6892-6894)aGa>aAa	p.R2298K	SYNE2_ENST00000554584.1_Missense_Mutation_p.R2298K|SYNE2_ENST00000358025.3_Missense_Mutation_p.R2298K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2298					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R2298K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAGAGAATAGACTCAGTTTA	0.343																																					p.R2298K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6893A	14						.						75.0	72.0	73.0					14																	64497747		1827	4081	5908	63567500	SO:0001583	missense	23224	exon45			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6893G>A	14.37:g.64497747G>A	ENSP00000341781:p.Arg2298Lys	Somatic		Capture	Illumina HiSeq	Phase_I	63567500	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237763	0.22711	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.33865	1.39;1.39;1.39	5.1	-1.3	0.09259	.	0.685490	0.12602	N	0.454650	T	0.15782	0.0380	N	0.24115	0.695	0.19945	N	0.999945	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.26121	-1.0112	10	0.09590	T	0.72	.	1.9539	0.03372	0.2209:0.3735:0.2774:0.1283	.	2298;2298	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2298	ENSP00000350719:R2298K;ENSP00000341781:R2298K;ENSP00000452570:R2298K	ENSP00000261678:R2298K	R	+	2	0	SYNE2	63567500	0.588000	0.26799	0.158000	0.22627	0.959000	0.62525	1.026000	0.30103	0.104000	0.17725	0.462000	0.41574	AGA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64540697	64540697	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64540697A>C	ENST00000344113.4	+	53	10921	c.10709A>C	c.(10708-10710)aAa>aCa	p.K3570T	SYNE2_ENST00000554584.1_Missense_Mutation_p.K3603T|SYNE2_ENST00000358025.3_Missense_Mutation_p.K3570T|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000394768.2_5'Flank|SYNE2_ENST00000555002.1_Missense_Mutation_p.K204T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3570					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K3570T(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTCTTCAGAAAGTTCAGAAA	0.299																																					p.K3570T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10709C	14						.						99.0	98.0	98.0					14																	64540697		1796	4065	5861	63610450	SO:0001583	missense	23224	exon53			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10709A>C	14.37:g.64540697A>C	ENSP00000341781:p.Lys3570Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63610450	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	9.446	1.089271	0.20390	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.64991	0.25;0.25;-0.13;3.59	5.3	4.13	0.48395	.	0.178542	0.39341	N	0.001396	T	0.46425	0.1392	N	0.19112	0.55	0.80722	D	1	B;P	0.35107	0.352;0.484	B;B	0.35655	0.102;0.207	T	0.42599	-0.9442	10	0.44086	T	0.13	.	10.8057	0.46516	0.8347:0.1653:0.0:0.0	.	3570;3570	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	T	3570;3570;3603;3603;204	ENSP00000350719:K3570T;ENSP00000341781:K3570T;ENSP00000452570:K3603T;ENSP00000450831:K204T	ENSP00000261678:K3603T	K	+	2	0	SYNE2	63610450	1.000000	0.71417	0.576000	0.28549	0.804000	0.45430	4.034000	0.57289	0.933000	0.37291	0.533000	0.62120	AAA		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64619338	64619338	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64619338T>G	ENST00000344113.4	+	85	15908	c.15696T>G	c.(15694-15696)agT>agG	p.S5232R	SYNE2_ENST00000554584.1_Missense_Mutation_p.S5149R|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5232R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1617R|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1617R|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1866R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5232					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S5232R(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAACAAAGTTATCTGACTT	0.373																																					p.S5232R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T15696G	14						.						97.0	94.0	95.0					14																	64619338		2203	4300	6503	63689091	SO:0001583	missense	23224	exon85			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15696T>G	14.37:g.64619338T>G	ENSP00000341781:p.Ser5232Arg	Somatic		Capture	Illumina HiSeq	Phase_I	63689091	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180600	0.38511	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;4.06;1.37	5.94	-0.451	0.12214	.	0.190696	0.36338	N	0.002646	T	0.31888	0.0811	L	0.54323	1.7	0.09310	N	0.999999	B;P;B;P	0.42296	0.026;0.571;0.027;0.775	B;B;B;B	0.42555	0.037;0.17;0.045;0.391	T	0.19712	-1.0297	10	0.48119	T	0.1	.	9.096	0.36640	0.0:0.3512:0.0:0.6488	.	1617;5149;5232;5232	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	R	5232;1617;5232;5149;5155;1866;1617	ENSP00000350719:S5232R;ENSP00000349969:S1617R;ENSP00000341781:S5232R;ENSP00000452570:S5149R;ENSP00000450831:S1866R;ENSP00000378249:S1617R	ENSP00000261678:S5155R	S	+	3	2	SYNE2	63689091	0.067000	0.21026	0.013000	0.15412	0.960000	0.62799	0.089000	0.15002	-0.312000	0.08741	-0.250000	0.11733	AGT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64653203	64653203	+	Missense_Mutation	SNP	C	C	T	rs563482043	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64653203C>T	ENST00000344113.4	+	97	17830	c.17618C>T	c.(17617-17619)gCg>gTg	p.A5873V	SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5873V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.A2258V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2258V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2507V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5873					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A5873V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTATGAAGGCGGACTTAACC	0.448																																					p.A5873V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17618T	14						.						174.0	177.0	176.0					14																	64653203		2203	4300	6503	63722956	SO:0001583	missense	23224	exon97			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17618C>T	14.37:g.64653203C>T	ENSP00000341781:p.Ala5873Val	Somatic		Capture	Illumina HiSeq	Phase_I	63722956	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633869	0.47049	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.64	4.74	0.60224	.	0.724367	0.12112	N	0.498434	T	0.40171	0.1106	L	0.46157	1.445	0.80722	D	1	P;P;P;P	0.51147	0.661;0.531;0.668;0.942	B;B;B;P	0.44860	0.221;0.07;0.11;0.462	T	0.22661	-1.0210	10	0.44086	T	0.13	.	16.5499	0.84470	0.0:0.8691:0.1308:0.0	.	2258;261;5873;5873	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	V	5873;2258;5873;2507;2258	ENSP00000350719:A5873V;ENSP00000349969:A2258V;ENSP00000341781:A5873V;ENSP00000450831:A2507V;ENSP00000378249:A2258V	ENSP00000341781:A5873V	A	+	2	0	SYNE2	63722956	0.035000	0.19736	0.337000	0.25536	0.383000	0.30230	0.381000	0.20619	1.350000	0.45770	0.585000	0.79938	GCG		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ESR2	2100	broad.mit.edu	37	14	64699873	64699873	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64699873C>T	ENST00000341099.4	-	9	1992	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000267525.6_Silent_p.Q434Q|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000358599.5_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	525	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q525Q(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACTGTGGGTTCTGGGAGCCCT	0.607																																					p.Q525Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1575A	14						.						129.0	113.0	118.0					14																	64699873		2203	4300	6503	63769626	SO:0001819	synonymous_variant	2100	exon9			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1575G>A	14.37:g.64699873C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63769626	NM_001437	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	CCDS9762.1																																																																																				0.607	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
AKAP5	9495	broad.mit.edu	37	14	64936052	64936052	+	Nonsense_Mutation	SNP	G	G	T	rs34433837	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64936052G>T	ENST00000394718.4	+	2	1318	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	AKAP5_ENST00000320636.5_Nonsense_Mutation_p.E314*|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	314			E -> K (in dbSNP:rs34433837).		energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E314*(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATTGAGCCAAGAATCAGATTT	0.348																																					p.E314X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G940T	14						.						71.0	76.0	74.0					14																	64936052		2203	4300	6503	64005805	SO:0001587	stop_gained	9495	exon2			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.940G>T	14.37:g.64936052G>T	ENSP00000378207:p.Glu314*	Somatic		Capture	Illumina HiSeq	Phase_I	64005805	NM_004857	A2RRB8	Nonsense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050656	0.93740	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	.	.	.	5.61	3.75	0.43078	.	0.709634	0.13209	N	0.405290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.905	3.4716	0.07569	0.1557:0.1343:0.5716:0.1384	.	.	.	.	X	314	.	ENSP00000315615:E314X	E	+	1	0	AKAP5	64005805	0.009000	0.17119	0.030000	0.17652	0.046000	0.14306	0.878000	0.28126	1.503000	0.48686	0.655000	0.94253	GAA		0.348	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
AKAP5	9495	broad.mit.edu	37	14	64936385	64936385	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:64936385C>A	ENST00000394718.4	+	2	1651	c.1273C>A	c.(1273-1275)Ctt>Att	p.L425I	AKAP5_ENST00000320636.5_Missense_Mutation_p.L425I|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	425					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.L425I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AATAAACAATCTTCTACAGTG	0.343																																					p.L425I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1273A	14						.						60.0	65.0	63.0					14																	64936385		2200	4293	6493	64006138	SO:0001583	missense	9495	exon2			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1273C>A	14.37:g.64936385C>A	ENSP00000378207:p.Leu425Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64006138	NM_004857	A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192409	0.38707	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.30448	1.53;1.53	5.61	4.71	0.59529	.	0.482893	0.17678	N	0.165728	T	0.22360	0.0539	N	0.24115	0.695	0.21220	N	0.999753	P	0.46395	0.877	P	0.45829	0.494	T	0.07252	-1.0782	10	0.32370	T	0.25	0.0195	6.9898	0.24750	0.0:0.8183:0.0:0.1817	.	425	P24588	AKAP5_HUMAN	I	425	ENSP00000378207:L425I;ENSP00000315615:L425I	ENSP00000315615:L425I	L	+	1	0	AKAP5	64006138	0.997000	0.39634	0.937000	0.37676	0.998000	0.95712	0.916000	0.28651	2.793000	0.96121	0.655000	0.94253	CTT		0.343	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
SPTB	6710	broad.mit.edu	37	14	65236382	65236382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:65236382G>A	ENST00000389721.5	-	27	5895	c.5863C>T	c.(5863-5865)Cgg>Tgg	p.R1955W	SPTB_ENST00000389722.3_Missense_Mutation_p.R1955W|SPTB_ENST00000556626.1_Missense_Mutation_p.R1955W|SPTB_ENST00000542895.1_Missense_Mutation_p.R1955W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1955W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1955					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1955W(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTTGCTCCGGGTTTCAATC	0.587																																					p.R1955W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5863T	14						.						86.0	90.0	88.0					14																	65236382		2203	4300	6503	64306135	SO:0001583	missense	6710	exon27				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5863C>T	14.37:g.65236382G>A	ENSP00000374371:p.Arg1955Trp	Somatic		Capture	Illumina HiSeq	Phase_I	64306135	NM_000347	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965893	0.74131	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	4.82	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.91872	3.25	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.989;0.973	D;P;B	0.91635	0.999;0.63;0.44	T	0.64050	-0.6498	10	0.87932	D	0	.	6.9998	0.24803	0.0849:0.0:0.5996:0.3155	.	739;1955;1959	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	W	1959;1955;739;620;1955;1955;1955;1955	ENSP00000374372:R1955W;ENSP00000451324:R620W;ENSP00000451752:R1955W;ENSP00000374371:R1955W;ENSP00000443882:R1955W;ENSP00000374370:R1955W	ENSP00000334218:R739W	R	-	1	2	SPTB	64306135	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	2.265000	0.43311	0.690000	0.31570	0.555000	0.69702	CGG		0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
GPHN	10243	broad.mit.edu	37	14	67390961	67390961	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:67390961G>A	ENST00000315266.5	+	7	1850				GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Silent_p.Q242Q|GPHN_ENST00000478722.1_Silent_p.Q260Q	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.Q260Q(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACGGTGAACAGCCCATCCCTG	0.403			T	MLL	AL																																p.Q260Q			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	14						.						152.0	122.0	132.0					14																	67390961		2203	4300	6503	66460714	SO:0001627	intron_variant	10243	exon8			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.729+1306G>A	14.37:g.67390961G>A		Somatic		Capture	Illumina HiSeq	Phase_I	66460714	NM_020806	Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	CCDS32103.1																																																																																				0.403	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
FAM71D	161142	broad.mit.edu	37	14	67664960	67664960	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:67664960G>T	ENST00000556046.1	+	3	306	c.82G>T	c.(82-84)Gat>Tat	p.D28Y				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	28						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D28Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TGATCCGAGAGATCTTCAAAA	0.438																																					p.D28Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82T	14						.						181.0	150.0	161.0					14																	67664960		2203	4300	6503	66734713	SO:0001583	missense	161142	exon3				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.82G>T	14.37:g.67664960G>T	ENSP00000451865:p.Asp28Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	66734713	NM_173526	Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	37		.	.	.	.	.	.	.	.	.	.	G	11.43	1.637769	0.29157	.	.	ENSG00000172717	ENST00000524532;ENST00000530728	T;T	0.48836	0.8;1.4	5.0	-6.41	0.01938	.	1.391920	0.04524	N	0.385218	T	0.32436	0.0829	L	0.48642	1.525	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.12400	-1.0549	9	0.22706	T	0.39	1.2901	2.9594	0.05887	0.28:0.3742:0.2484:0.0974	.	28	Q8N9W8	FA71D_HUMAN	Y	28	ENSP00000436280:D28Y;ENSP00000433183:D28Y	ENSP00000431905:D28Y	D	+	1	0	FAM71D	66734713	0.236000	0.23804	0.001000	0.08648	0.361000	0.29550	-0.183000	0.09712	-1.301000	0.02338	-0.440000	0.05779	GAT		0.438	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526	
MPP5	64398	broad.mit.edu	37	14	67769139	67769139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:67769139C>T	ENST00000261681.4	+	7	1475	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	MPP5_ENST00000555925.1_Missense_Mutation_p.R238C	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	272	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R272C(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGCTACAGTTCGTAATGAAAT	0.294																																					p.R272C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814T	14						.						58.0	60.0	60.0					14																	67769139		2203	4300	6503	66838892	SO:0001583	missense	64398	exon7			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.814C>T	14.37:g.67769139C>T	ENSP00000261681:p.Arg272Cys	Somatic		Capture	Illumina HiSeq	Phase_I	66838892	NM_022474	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337975	0.81911	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.27890	1.64;1.64	5.8	5.8	0.92144	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80291	-0.1444	10	0.87932	D	0	.	20.0586	0.97663	0.0:1.0:0.0:0.0	.	272	Q8N3R9	MPP5_HUMAN	C	272;238	ENSP00000261681:R272C;ENSP00000451488:R238C	ENSP00000261681:R272C	R	+	1	0	MPP5	66838892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.347000	0.59373	2.741000	0.93983	0.650000	0.86243	CGT		0.294	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474	
EIF2S1	1965	broad.mit.edu	37	14	67848323	67848323	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:67848323T>G	ENST00000256383.4	+	6	1055	c.594T>G	c.(592-594)gcT>gcG	p.A198A	EIF2S1_ENST00000466499.2_Silent_p.A198A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.A198A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTGAAGTGGCTTGTTATGGTT	0.313																																					p.A198A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T594G	14						.						85.0	93.0	90.0					14																	67848323		2203	4300	6503	66918076	SO:0001819	synonymous_variant	1965	exon6			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.594T>G	14.37:g.67848323T>G		Somatic		Capture	Illumina HiSeq	Phase_I	66918076	NM_004094		Silent	SNP	ENST00000256383.4	37	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.242570	0.22796	.	.	ENSG00000134001	ENST00000555876	.	.	.	6.0	1.06	0.20224	.	.	.	.	.	T	0.42359	0.1199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22730	-1.0208	4	.	.	.	-14.9658	1.5495	0.02571	0.1215:0.2756:0.2799:0.3231	.	.	.	.	R	155	.	.	L	+	2	0	EIF2S1	66918076	0.670000	0.27512	1.000000	0.80357	0.988000	0.76386	-0.250000	0.08830	0.157000	0.19338	-0.297000	0.09499	CTT		0.313	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094	
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353																																					p.D221Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661T	14						.						96.0	93.0	94.0					14																	68113681		2203	4300	6503	67183434	SO:0001583	missense	384	exon6			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.661G>T	14.37:g.68113681G>T	ENSP00000261783:p.Asp221Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	67183434	NM_001172	B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	ARG2	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT		0.353	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	
ACTN1	87	broad.mit.edu	37	14	69351025	69351025	+	Splice_Site	SNP	G	G	A	rs372651589		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:69351025G>A	ENST00000193403.6	-	14	1878	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	ACTN1_ENST00000538545.2_Splice_Site_p.R499W|ACTN1_ENST00000394419.4_Splice_Site_p.R499W|ACTN1_ENST00000438964.2_Splice_Site_p.R499W|ACTN1_ENST00000376839.3_Splice_Site_p.R434W	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	499	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.R499W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTCGGTCCGCTGGGAGTGC	0.552																																					p.R499W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495T	14						.	G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	81.0	85.0		1495,1495,1495	5.0	1.0	14		85	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	ACTN1	NM_001102.3,NM_001130004.1,NM_001130005.1	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	499/893,499/915,499/888	69351025	1,13005	2203	4300	6503	68420778	SO:0001630	splice_region_variant	87	exon14			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1495-1C>T	14.37:g.69351025G>A		Somatic		Capture	Illumina HiSeq	Phase_I	68420778	NM_001130005	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186858	0.78789	2.27E-4	0.0	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;D;D;T	0.82619	-1.45;-1.49;-1.48;-1.51;-1.63;0.73	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.996;0.997	D;P;D;D;D	0.76071	0.987;0.904;0.942;0.942;0.942	D	0.85912	0.1441	10	0.72032	D	0.01	.	11.3222	0.49428	0.0:0.0:0.6914:0.3086	.	130;499;499;499;146	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;ACTN1_HUMAN;.	W	499;499;499;434;499;89	ENSP00000193403:R499W;ENSP00000377941:R499W;ENSP00000414272:R499W;ENSP00000366035:R434W;ENSP00000439828:R499W;ENSP00000444422:R89W	ENSP00000193403:R499W	R	-	1	2	ACTN1	68420778	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.812000	0.55628	2.597000	0.87782	0.655000	0.94253	CGG		0.552	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	Missense_Mutation
DCAF5	8816	broad.mit.edu	37	14	69521041	69521041	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:69521041G>A	ENST00000341516.5	-	9	2509	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W	DCAF5_ENST00000554215.1_Missense_Mutation_p.R706W|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.R787W|DCAF5_ENST00000556847.1_Missense_Mutation_p.R706W	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	788					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.R788W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCCTCAGCCCGACTGCTCAGG	0.587																																					p.R788W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2362T	14						.						59.0	65.0	63.0					14																	69521041		2203	4300	6503	68590794	SO:0001583	missense	8816	exon9			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2362C>T	14.37:g.69521041G>A	ENSP00000341351:p.Arg788Trp	Somatic		Capture	Illumina HiSeq	Phase_I	68590794	NM_003861	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496095	0.26774	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69685	-0.42;-0.25;-0.25;0.2	4.99	4.03	0.46877	.	0.242362	0.28996	N	0.013471	T	0.55081	0.1898	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.50896	0.653;0.451	T	0.57969	-0.7719	10	0.62326	D	0.03	-12.2052	4.2292	0.10596	0.1312:0.0:0.4825:0.3863	.	787;788	G3V4J7;Q96JK2	.;DCAF5_HUMAN	W	788;706;706;787	ENSP00000341351:R788W;ENSP00000451551:R706W;ENSP00000452052:R706W;ENSP00000451845:R787W	ENSP00000341351:R788W	R	-	1	2	DCAF5	68590794	1.000000	0.71417	0.998000	0.56505	0.070000	0.16714	1.770000	0.38532	2.591000	0.87537	0.561000	0.74099	CGG		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	
GALNT16	57452	broad.mit.edu	37	14	69800248	69800248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:69800248G>A	ENST00000337827.4	+	9	1225	c.898G>A	c.(898-900)Gac>Aac	p.D300N	GALNT16_ENST00000553669.1_Missense_Mutation_p.D300N|GALNT16_ENST00000448469.3_Missense_Mutation_p.D300N	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	300	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D300N(1)									CTTCGTGATCGACAAGTCCTG	0.507																																					p.D300N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G898A	14						.						112.0	98.0	103.0					14																	69800248		2203	4300	6503	68870001	SO:0001583	missense	57452	exon9			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.898G>A	14.37:g.69800248G>A	ENSP00000336729:p.Asp300Asn	Somatic		Capture	Illumina HiSeq	Phase_I	68870001	NM_020692	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662164	0.47572	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.58797	0.31;0.31;0.31	5.7	5.7	0.88788	.	0.094486	0.64402	D	0.000001	T	0.45074	0.1324	L	0.36672	1.1	0.80722	D	1	P;P	0.38020	0.525;0.615	B;B	0.27500	0.055;0.08	T	0.49771	-0.8904	10	0.52906	T	0.07	.	15.0275	0.71680	0.07:0.0:0.93:0.0	.	300;300	Q8N428;Q58A55	GLTL1_HUMAN;.	N	300	ENSP00000336729:D300N;ENSP00000402970:D300N;ENSP00000451200:D300N	ENSP00000336729:D300N	D	+	1	0	GALNTL1	68870001	1.000000	0.71417	0.990000	0.47175	0.259000	0.26198	5.536000	0.67180	2.687000	0.91594	0.563000	0.77884	GAC		0.507	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
SRSF5	6430	broad.mit.edu	37	14	70237745	70237745	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:70237745G>T	ENST00000553521.1	+	8	1927	c.474G>T	c.(472-474)aaG>aaT	p.K158N	SRSF5_ENST00000394366.2_Missense_Mutation_p.K158N|SRSF5_ENST00000557154.1_Missense_Mutation_p.K158N|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.K155N			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						GTGACTTAAAGAATGCTATTG	0.343																																					p.K158N												.	.	0			c.G474T	14						.						122.0	122.0	122.0					14																	70237745		2203	4300	6503	69307498	SO:0001583	missense	6430	exon7			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.474G>T	14.37:g.70237745G>T	ENSP00000452123:p.Lys158Asn	Somatic		Capture	Illumina HiSeq	Phase_I	69307498	NM_001039465	O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264010	0.59431	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.78	4.89	0.63831	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.53249	1.67	0.80722	D	1	P;D	0.71674	0.767;0.998	P;D	0.69824	0.535;0.966	T	0.05162	-1.0902	10	0.66056	D	0.02	.	10.8178	0.46587	0.1439:0.0:0.8561:0.0	.	155;158	Q13243-3;Q13243	.;SRSF5_HUMAN	N	158;158;158;155	ENSP00000452123:K158N;ENSP00000377892:K158N;ENSP00000451088:K158N;ENSP00000451391:K155N	ENSP00000377892:K158N	K	+	3	2	SRSF5	69307498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.653000	0.54446	1.452000	0.47756	0.655000	0.94253	AAG		0.343	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465	
ADAM21	8747	broad.mit.edu	37	14	70924432	70924432	+	Silent	SNP	C	C	T	rs553149454		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:70924432C>T	ENST00000603540.1	+	2	474	c.216C>T	c.(214-216)caC>caT	p.H72H	ADAM21_ENST00000267499.3_Silent_p.H72H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	72					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H72H(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCAGAAACACGTTGTTCATA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20886	0.0		0.0	False		,,,				2504	0.0				p.H72H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C216T	14						.						122.0	128.0	126.0					14																	70924432		2203	4300	6503	69994185	SO:0001819	synonymous_variant	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.216C>T	14.37:g.70924432C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69994185	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																				0.537	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
PCNX	22990	broad.mit.edu	37	14	71444682	71444682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:71444682G>A	ENST00000304743.2	+	6	2074	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	PCNX_ENST00000238570.5_Missense_Mutation_p.R543Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R543Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	543						integral component of membrane (GO:0016021)		p.R543Q(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGGATGTTCGACCTAAATCT	0.463																																					p.R543Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1628A	14						.						107.0	109.0	109.0					14																	71444682		2203	4300	6503	70514435	SO:0001583	missense	22990	exon6			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1628G>A	14.37:g.71444682G>A	ENSP00000304192:p.Arg543Gln	Somatic		Capture	Illumina HiSeq	Phase_I	70514435	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657353	0.29425	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15256	3.15;3.11;2.44	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000002	T	0.15435	0.0372	L	0.29908	0.895	0.46654	D	0.999148	B;B;P	0.47545	0.287;0.287;0.897	B;B;B	0.38194	0.024;0.024;0.267	T	0.01390	-1.1367	10	0.39692	T	0.17	.	20.1874	0.98223	0.0:0.0:1.0:0.0	.	543;543;543	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Q	543	ENSP00000304192:R543Q;ENSP00000238570:R543Q;ENSP00000396617:R543Q	ENSP00000238570:R543Q	R	+	2	0	PCNX	70514435	1.000000	0.71417	0.366000	0.25914	0.109000	0.19521	5.670000	0.68088	2.774000	0.95407	0.650000	0.86243	CGA		0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
PCNX	22990	broad.mit.edu	37	14	71575521	71575521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:71575521C>T	ENST00000304743.2	+	34	6948	c.6502C>T	c.(6502-6504)Cga>Tga	p.R2168*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.R2096*|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Nonsense_Mutation_p.R2057*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2168	Ser-rich.					integral component of membrane (GO:0016021)		p.R2168*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATCCAATCCCGACTGTCGAT	0.572																																					p.R2168X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6502T	14						.						74.0	69.0	70.0					14																	71575521		2203	4300	6503	70645274	SO:0001587	stop_gained	22990	exon34			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6502C>T	14.37:g.71575521C>T	ENSP00000304192:p.Arg2168*	Somatic		Capture	Illumina HiSeq	Phase_I	70645274	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	43	9.864095	0.99283	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1907	0.98230	0.0:1.0:0.0:0.0	.	.	.	.	X	2168;2096;2057	.	ENSP00000238570:R2096X	R	+	1	2	PCNX	70645274	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.949000	0.75971	2.775000	0.95449	0.557000	0.71058	CGA		0.572	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
DPF3	8110	broad.mit.edu	37	14	73159822	73159822	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:73159822G>T	ENST00000556509.1	-	7	703	c.704C>A	c.(703-705)aCt>aAt	p.T235N	DPF3_ENST00000546183.1_Missense_Mutation_p.T245N|DPF3_ENST00000541685.1_Missense_Mutation_p.T235N|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	235					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.T235N(1)|p.T234N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGGGACCGAGTCTCCTGGTC	0.582																																					p.T235N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C704A	14						.						198.0	202.0	201.0					14																	73159822		2080	4218	6298	72229575	SO:0001583	missense	8110	exon7			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.704C>A	14.37:g.73159822G>T	ENSP00000450518:p.Thr235Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72229575	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	G	19.94	3.919159	0.73098	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90444	-2.67;-0.1;-0.13	5.36	4.41	0.53225	.	.	.	.	.	D	0.90191	0.6934	L	0.54323	1.7	0.46499	D	0.999076	P;B;B	0.51351	0.944;0.004;0.006	P;B;B	0.47470	0.548;0.003;0.002	D	0.91279	0.5050	9	0.66056	D	0.02	.	14.8156	0.70031	0.0:0.0:0.8554:0.1446	.	245;235;235	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	N	235;234;235;245	ENSP00000450518:T235N;ENSP00000441640:T235N;ENSP00000444662:T245N	ENSP00000381791:T290N	T	-	2	0	DPF3	72229575	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.187000	0.77730	2.504000	0.84457	0.462000	0.41574	ACT		0.582	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
DPF3	8110	broad.mit.edu	37	14	73181138	73181138	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:73181138G>T	ENST00000556509.1	-	6	596	c.597C>A	c.(595-597)gtC>gtA	p.V199V	DPF3_ENST00000546183.1_Silent_p.V209V|DPF3_ENST00000541685.1_Silent_p.V199V|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	199					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.V199V(1)|p.V198V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TACTGTCACAGACGTAAGGTT	0.642																																					p.V199V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C597A	14						.						91.0	104.0	100.0					14																	73181138		2093	4213	6306	72250891	SO:0001819	synonymous_variant	8110	exon6			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.597C>A	14.37:g.73181138G>T		Somatic		Capture	Illumina HiSeq	Phase_I	72250891	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37																																																																																					0.642	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
ZFYVE1	53349	broad.mit.edu	37	14	73464804	73464804	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:73464804C>T	ENST00000556143.1	-	3	1423	c.703G>A	c.(703-705)Gat>Aat	p.D235N	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D235N|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D235N	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	235					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.D235N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTTCCGTATCGATCACTGCT	0.542																																					p.D235N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	14						.						85.0	73.0	77.0					14																	73464804		2203	4300	6503	72534557	SO:0001583	missense	53349	exon3			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.703G>A	14.37:g.73464804C>T	ENSP00000450742:p.Asp235Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72534557	NM_021260	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523771	0.96431	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	D;D;D	0.93953	-3.32;-3.32;-3.32	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97451	1.0028	10	0.87932	D	0	-31.6933	20.089	0.97809	0.0:1.0:0.0:0.0	.	235;235	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	N	235	ENSP00000452442:D235N;ENSP00000326921:D235N;ENSP00000450742:D235N	ENSP00000326921:D235N	D	-	1	0	ZFYVE1	72534557	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.765000	0.95021	0.591000	0.81541	GAT		0.542	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260	
PSEN1	5663	broad.mit.edu	37	14	73664774	73664774	+	Missense_Mutation	SNP	C	C	T	rs63751019		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:73664774C>T	ENST00000324501.5	+	8	1077	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	PSEN1_ENST00000394164.1_Missense_Mutation_p.R265C|PSEN1_ENST00000406768.1_Missense_Mutation_p.R177C|PSEN1_ENST00000344094.3_Missense_Mutation_p.R269C|PSEN1_ENST00000357710.4_Missense_Mutation_p.R265C|PSEN1_ENST00000557511.1_Missense_Mutation_p.R269C|PSEN1_ENST00000261970.3_Missense_Mutation_p.R269C	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	269			R -> G (in AD3).|R -> H (in AD3).		activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.R269C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AGGTCCACTTCGTATGCTGGT	0.358																																					p.R269C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	14	GRCh37	CM961207	PSEN1	M	rs63751019	.						66.0	64.0	65.0					14																	73664774		2203	4299	6502	72734527	SO:0001583	missense	5663	exon8			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.805C>T	14.37:g.73664774C>T	ENSP00000326366:p.Arg269Cys	Somatic		Capture	Illumina HiSeq	Phase_I	72734527	NM_000021	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408349	0.83340	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97189	0.9856	10	0.87932	D	0	-11.0421	20.0991	0.97865	0.0:1.0:0.0:0.0	.	265;269	P49768-2;P49768	.;PSN1_HUMAN	C	269;265;269;269;265;269;177	ENSP00000326366:R269C;ENSP00000350342:R265C;ENSP00000261970:R269C;ENSP00000339523:R269C;ENSP00000377719:R265C;ENSP00000451429:R269C;ENSP00000385948:R177C	ENSP00000261970:R269C	R	+	1	0	PSEN1	72734527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.653000	0.61462	2.752000	0.94435	0.655000	0.94253	CGT		0.358	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		
NUMB	8650	broad.mit.edu	37	14	73822372	73822372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:73822372C>A	ENST00000355058.3	-	4	366	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	NUMB_ENST00000544991.3_Nonsense_Mutation_p.E30*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.E30*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.E30*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.E30*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.E30*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.E30*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.E30*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	30					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E30*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CGAACGCCTTCTTCATCTGTC	0.403																																					p.E30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G88T	14						.						113.0	107.0	109.0					14																	73822372		2203	4300	6503	72892125	SO:0001587	stop_gained	8650	exon4			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.88G>T	14.37:g.73822372C>A	ENSP00000347169:p.Glu30*	Somatic		Capture	Illumina HiSeq	Phase_I	72892125	NM_001005744	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Nonsense_Mutation	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	C	38	7.263696	0.98171	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394;ENST00000555987;ENST00000554818	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-12.8839	19.1152	0.93336	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000315193:E30X	E	-	1	0	NUMB	72892125	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.593000	0.82686	2.738000	0.93877	0.655000	0.94253	GAA		0.403	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1		
FAM161B	145483	broad.mit.edu	37	14	74411252	74411252	+	Silent	SNP	G	G	A	rs142518976		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:74411252G>A	ENST00000534936.1	-	3	816	c.711C>T	c.(709-711)agC>agT	p.S237S	FAM161B_ENST00000286544.3_Silent_p.S300S			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	237								p.S237S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTCGGGCCTCGCTGCGCTCCA	0.597																																					p.S237S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	14						.	G		1,4405	2.1+/-5.4	0,1,2202	50.0	50.0	50.0		900	-10.2	0.1	14	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	FAM161B	NM_152445.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		300/711	74411252	1,13005	2203	4300	6503	73481005	SO:0001819	synonymous_variant	145483	exon3			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.711C>T	14.37:g.74411252G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73481005	NM_152445	B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37																																																																																					0.597	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445	
CCDC176	80127	broad.mit.edu	37	14	74489701	74489701	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:74489701G>A	ENST00000394009.3	+	2	262	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	47					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E47K(1)									GGAAGTCACAGAACTCTCTAG	0.418																																					p.E47K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	14						.						63.0	56.0	58.0					14																	74489701		1568	3582	5150	73559454	SO:0001583	missense	80127	exon2			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.139G>A	14.37:g.74489701G>A	ENSP00000377577:p.Glu47Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73559454	NM_025057	Q0P604|Q9H5P8	5'UTR	SNP	ENST00000394009.3	37	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574451	0.86542	.	.	ENSG00000119636	ENST00000394009	T	0.20200	2.09	4.88	4.88	0.63580	.	0.166139	0.37955	U	0.001877	T	0.41858	0.1177	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.09552	-1.0669	10	0.41790	T	0.15	-14.3122	15.0619	0.71961	0.0:0.0:1.0:0.0	.	47	Q8ND07	CN045_HUMAN	K	47	ENSP00000377577:E47K	ENSP00000377577:E47K	E	+	1	0	C14orf45	73559454	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.561000	0.73955	2.528000	0.85240	0.585000	0.79938	GAA		0.418	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057	
LTBP2	4053	broad.mit.edu	37	14	74969589	74969589	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:74969589T>G	ENST00000261978.4	-	34	5323	c.4937A>C	c.(4936-4938)gAg>gCg	p.E1646A	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1602A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1646					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E1646A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACCCCGGCCTCCCGCTCTGC	0.612																																					p.E1646A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4937C	14						.						41.0	47.0	45.0					14																	74969589		2203	4300	6503	74039342	SO:0001583	missense	4053	exon34				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4937A>C	14.37:g.74969589T>G	ENSP00000261978:p.Glu1646Ala	Somatic		Capture	Illumina HiSeq	Phase_I	74039342	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292613	0.23564	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78707	-1.2;-1.2	5.04	3.85	0.44370	Matrix fibril-associated (1);	0.172120	0.27245	N	0.020245	T	0.59432	0.2193	L	0.27053	0.805	0.26961	N	0.965817	B	0.31077	0.307	B	0.27380	0.079	T	0.45205	-0.9277	10	0.14656	T	0.56	.	7.6282	0.28224	0.0:0.1822:0.0:0.8178	.	1646	Q14767	LTBP2_HUMAN	A	1646;1602	ENSP00000261978:E1646A;ENSP00000451477:E1602A	ENSP00000261978:E1646A	E	-	2	0	LTBP2	74039342	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	1.886000	0.39688	0.893000	0.36288	0.459000	0.35465	GAG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
LTBP2	4053	broad.mit.edu	37	14	74978020	74978020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:74978020C>T	ENST00000261978.4	-	19	3342	c.2956G>A	c.(2956-2958)Gtc>Atc	p.V986I	LTBP2_ENST00000556690.1_Missense_Mutation_p.V986I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	986	Cys-rich.|EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V986I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGAATTGACGCATCTCCCA	0.597																																					p.V986I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2956A	14						.						164.0	132.0	143.0					14																	74978020		2203	4300	6503	74047773	SO:0001583	missense	4053	exon19				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2956G>A	14.37:g.74978020C>T	ENSP00000261978:p.Val986Ile	Somatic		Capture	Illumina HiSeq	Phase_I	74047773	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441510	0.43326	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91996	-2.25;-2.95	5.36	1.39	0.22231	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);	0.396081	0.18422	N	0.141718	T	0.81029	0.4738	N	0.25380	0.74	0.30105	N	0.807053	P	0.44344	0.833	B	0.35899	0.213	T	0.75068	-0.3448	10	0.20519	T	0.43	.	5.8204	0.18524	0.0:0.6296:0.1385:0.2319	.	986	Q14767	LTBP2_HUMAN	I	986	ENSP00000261978:V986I;ENSP00000451477:V986I	ENSP00000261978:V986I	V	-	1	0	LTBP2	74047773	0.972000	0.33761	1.000000	0.80357	0.988000	0.76386	0.083000	0.14871	0.372000	0.24591	0.655000	0.94253	GTC		0.597	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
YLPM1	56252	broad.mit.edu	37	14	75245210	75245210	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75245210C>A	ENST00000552421.1	+	2	1058	c.934C>A	c.(934-936)Cat>Aat	p.H312N	YLPM1_ENST00000238571.3_Missense_Mutation_p.H312N|YLPM1_ENST00000325680.7_Missense_Mutation_p.H312N			P49750	YLPM1_HUMAN	YLP motif containing 1	312					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.H312N(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GACAAAAGTTCATTTGCCAGG	0.423																																					p.H312N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C934A	14						.						70.0	69.0	70.0					14																	75245210		1889	4113	6002	74314963	SO:0001583	missense	56252	exon2			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.934C>A	14.37:g.75245210C>A	ENSP00000447921:p.His312Asn	Somatic		Capture	Illumina HiSeq	Phase_I	74314963	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	C	11.74	1.727904	0.30593	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	T;T;T	0.21734	1.99;1.99;1.99	5.42	4.53	0.55603	.	0.175206	0.40640	N	0.001052	T	0.15089	0.0364	L	0.27053	0.805	0.23003	N	0.998448	B	0.02656	0.0	B	0.06405	0.002	T	0.17137	-1.0379	10	0.18710	T	0.47	-6.4276	14.0177	0.64533	0.151:0.849:0.0:0.0	.	312	P49750-4	.	N	312;312;312;25	ENSP00000447921:H312N;ENSP00000324463:H312N;ENSP00000238571:H312N	ENSP00000238571:H312N	H	+	1	0	YLPM1	74314963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.199000	0.32235	1.271000	0.44313	0.591000	0.81541	CAT		0.423	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
YLPM1	56252	broad.mit.edu	37	14	75265490	75265490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75265490C>T	ENST00000325680.7	+	5	3614	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	YLPM1_ENST00000238571.3_Missense_Mutation_p.R969C|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	969	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R969C(1)|p.R1164C(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATTTTGGTCGTGATAGAGG	0.542																																					p.R1164C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3490T	14						.						67.0	70.0	69.0					14																	75265490		1915	4115	6030	74335243	SO:0001583	missense	56252	exon5			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3490C>T	14.37:g.75265490C>T	ENSP00000324463:p.Arg1164Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74335243	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492214	0.26774	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.43	4.51	0.55191	.	0.185365	0.37136	N	0.002223	T	0.43897	0.1268	L	0.59436	1.845	0.34929	D	0.749183	D	0.59767	0.986	P	0.47015	0.534	T	0.55829	-0.8079	9	0.35671	T	0.21	-3.4778	5.7534	0.18160	0.1436:0.644:0.1386:0.0738	.	1164	P49750-4	.	C	1164;969;877	.	ENSP00000238571:R969C	R	+	1	0	YLPM1	74335243	0.012000	0.17670	1.000000	0.80357	0.992000	0.81027	0.021000	0.13489	2.564000	0.86499	0.551000	0.68910	CGT		0.542	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589	
YLPM1	56252	broad.mit.edu	37	14	75276969	75276969	+	Missense_Mutation	SNP	C	C	T	rs190418068		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75276969C>T	ENST00000552421.1	+	8	3080	c.2956C>T	c.(2956-2958)Cgt>Tgt	p.R986C	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1497C|YLPM1_ENST00000325680.7_Missense_Mutation_p.R1692C			P49750	YLPM1_HUMAN	YLP motif containing 1	1497	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R1497C(1)|p.R1692C(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAGATCGTGAGCCTTA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18193	0.001		0.0	False		,,,				2504	0.0				p.R1692C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5074T	14						.						110.0	102.0	104.0					14																	75276969		1879	4118	5997	74346722	SO:0001583	missense	56252	exon9			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2956C>T	14.37:g.75276969C>T	ENSP00000447921:p.Arg986Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74346722	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.91	3.504581	0.64410	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.17528	2.27;2.27;2.27	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000005	T	0.30665	0.0772	L	0.32530	0.975	0.43550	D	0.995856	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.953	T	0.01093	-1.1454	10	0.87932	D	0	-7.5451	13.6554	0.62336	0.27:0.7299:0.0:0.0	.	1497;1692	P49750-3;P49750-4	.;.	C	986;1692;1497;1405;101	ENSP00000447921:R986C;ENSP00000324463:R1692C;ENSP00000238571:R1497C	ENSP00000238571:R1497C	R	+	1	0	YLPM1	74346722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.249000	0.43169	2.783000	0.95769	0.655000	0.94253	CGT		0.373	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
MLH3	27030	broad.mit.edu	37	14	75515324	75515324	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75515324T>G	ENST00000556740.1	-	1	1070	c.1035A>C	c.(1033-1035)aaA>aaC	p.K345N	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.K345N|MLH3_ENST00000556257.1_Missense_Mutation_p.K345N|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.K345N|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	345					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.K345N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTAAAAACATTTTCACTCCTT	0.353								Mismatch excision repair (MMR)																													p.K345N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1035C	14						.						59.0	61.0	61.0					14																	75515324		2203	4299	6502	74585077	SO:0001583	missense	27030	exon2			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1035A>C	14.37:g.75515324T>G	ENSP00000452316:p.Lys345Asn	Somatic		Capture	Illumina HiSeq	Phase_I	74585077	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783060	0.49891	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.75	0.931	0.19460	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.047447	0.85682	D	0.000000	D	0.88570	0.6472	M	0.68593	2.085	0.80722	D	1	D;D	0.67145	0.996;0.97	D;D	0.66497	0.944;0.91	D	0.86165	0.1596	10	0.59425	D	0.04	-13.7529	8.9539	0.35805	0.0:0.3567:0.0:0.6433	.	345;345	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	N	345	ENSP00000348020:K345N;ENSP00000238662:K345N;ENSP00000451540:K345N;ENSP00000452316:K345N	ENSP00000238662:K345N	K	-	3	2	MLH3	74585077	0.930000	0.31532	0.892000	0.35008	0.998000	0.95712	1.494000	0.35616	0.134000	0.18681	0.533000	0.62120	AAA		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
ZC2HC1C	79696	broad.mit.edu	37	14	75538141	75538141	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75538141G>T	ENST00000524913.1	+	2	1354	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Nonsense_Mutation_p.E289*|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	289							metal ion binding (GO:0046872)	p.E289*(1)									CTTCTCCCCAGAATTTGAGTT	0.403																																					p.E289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G865T	14						.						75.0	71.0	73.0					14																	75538141		1818	4086	5904	74607894	SO:0001587	stop_gained	79696	exon2			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.865G>T	14.37:g.75538141G>T	ENSP00000435550:p.Glu289*	Somatic		Capture	Illumina HiSeq	Phase_I	74607894	NM_024643	E9PJQ0|Q9BTA8|Q9H5S9	Nonsense_Mutation	SNP	ENST00000524913.1	37	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902992	0.33628	.	.	ENSG00000119703	ENST00000524913;ENST00000238686	.	.	.	4.57	2.71	0.32032	.	0.588926	0.16530	N	0.210393	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8219	7.469	0.27338	0.149:0.257:0.5941:0.0	.	.	.	.	X	289	.	.	E	+	1	0	FAM164C	74607894	0.564000	0.26602	0.040000	0.18447	0.063000	0.16089	3.480000	0.53172	0.635000	0.30488	0.650000	0.86243	GAA		0.403	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430	
NEK9	91754	broad.mit.edu	37	14	75576448	75576448	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:75576448G>T	ENST00000238616.5	-	10	1280	c.1122C>A	c.(1120-1122)gtC>gtA	p.V374V		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	374					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.V374V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCCCTGCACAGACCTGCCGGG	0.498																																					p.V374V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122A	14						.						91.0	75.0	80.0					14																	75576448		2203	4300	6503	74646201	SO:0001819	synonymous_variant	91754	exon10			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1122C>A	14.37:g.75576448G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74646201	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	CCDS9839.1																																																																																				0.498	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
GPATCH2L	55668	broad.mit.edu	37	14	76638221	76638221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:76638221G>T	ENST00000261530.7	+	4	829	c.763G>T	c.(763-765)Gaa>Taa	p.E255*	GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.E255*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.E255*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.E255*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	255								p.E255*(1)									CTATGAAGGAGAATGTGTCCC	0.388																																					p.E255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G763T	14						.						212.0	206.0	208.0					14																	76638221		2203	4300	6503	75707974	SO:0001587	stop_gained	55668	exon4			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.763G>T	14.37:g.76638221G>T	ENSP00000261530:p.Glu255*	Somatic		Capture	Illumina HiSeq	Phase_I	75707974	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	37	6.526792	0.97637	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	.	.	.	5.95	5.95	0.96441	.	0.060978	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-49.13	18.5737	0.91147	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000261530:E255X	E	+	1	0	C14orf118	75707974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.824000	0.97209	0.655000	0.94253	GAA		0.388	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
LRRC74A	145497	broad.mit.edu	37	14	77297717	77297717	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:77297717T>C	ENST00000393774.3	+	3	513	c.389T>C	c.(388-390)gTg>gCg	p.V130A	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Splice_Site_p.V113A	NM_194287.2	NP_919263.2												p.V130A(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ATAGCCCTGGTGGTGAGCATG	0.577																																					p.V130A	Ovarian(165;1056 1958 32571 36789 48728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T389C	14						.						78.0	72.0	74.0					14																	77297717		2203	4300	6503	76367470	SO:0001630	splice_region_variant	145497	exon3																														ENST00000393774.3:c.390+1T>C	14.37:g.77297717T>C		Somatic		Capture	Illumina HiSeq	Phase_I	76367470	NM_194287		Missense_Mutation	SNP	ENST00000393774.3	37	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881380	0.91740	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.48836	0.8;2.41	5.66	5.66	0.87406	.	0.058954	0.64402	D	0.000002	T	0.50701	0.1631	L	0.31157	0.91	0.80722	D	1	D	0.69078	0.997	D	0.63703	0.917	T	0.39941	-0.9589	10	0.09843	T	0.71	.	14.118	0.65167	0.0:0.0:0.0:1.0	.	130	Q0VAA2	CN16B_HUMAN	A	130;113	ENSP00000377369:V130A;ENSP00000396260:V113A	ENSP00000216450:V130A	V	+	2	0	C14orf166B	76367470	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.776000	0.75023	2.166000	0.68216	0.454000	0.30748	GTG		0.577	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1		Missense_Mutation
TMEM63C	57156	broad.mit.edu	37	14	77723037	77723037	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:77723037C>T	ENST00000298351.4	+	24	2533	c.2389C>T	c.(2389-2391)Ctg>Ttg	p.L797L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	797					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.L797L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCAGGAAGGGCTGGAACTGGA	0.627																																					p.L797L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2389T	14						.						67.0	73.0	71.0					14																	77723037		1976	4151	6127	76792790	SO:0001819	synonymous_variant	57156	exon24				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2389C>T	14.37:g.77723037C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76792790	NM_020431	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																				0.627	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
SAMD15	161394	broad.mit.edu	37	14	77844860	77844860	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:77844860T>G	ENST00000216471.4	+	1	1385	c.1099T>G	c.(1099-1101)Tca>Gca	p.S367A	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	367								p.S367A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATAAGAAAGTCAAATGAGAA	0.388																																					p.S367A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1099G	14						.						75.0	78.0	77.0					14																	77844860		2203	4299	6502	76914613	SO:0001583	missense	161394	exon1			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1099T>G	14.37:g.77844860T>G	ENSP00000216471:p.Ser367Ala	Somatic		Capture	Illumina HiSeq	Phase_I	76914613	NM_001010860	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267031	0.40095	.	.	ENSG00000100583	ENST00000216471	T	0.26223	1.75	4.86	-0.798	0.10905	.	3.793420	0.00861	N	0.001924	T	0.21267	0.0512	L	0.52011	1.625	0.09310	N	1	P	0.41929	0.765	B	0.41271	0.352	T	0.14282	-1.0478	10	0.15066	T	0.55	.	0.7125	0.00926	0.1641:0.1927:0.1698:0.4734	.	367	Q9P1V8	SAM15_HUMAN	A	367	ENSP00000216471:S367A	ENSP00000216471:S367A	S	+	1	0	SAMD15	76914613	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.017000	0.12590	0.175000	0.19841	0.454000	0.30748	TCA		0.388	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
SAMD15	161394	broad.mit.edu	37	14	77845333	77845333	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:77845333C>A	ENST00000216471.4	+	1	1858	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	524								p.V524V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGAACGGGTCTCTGAAGATG	0.438																																					p.V524V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1572A	14						.						87.0	84.0	85.0					14																	77845333		2203	4300	6503	76915086	SO:0001819	synonymous_variant	161394	exon1			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1572C>A	14.37:g.77845333C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76915086	NM_001010860	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.438	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
NOXRED1	122945	broad.mit.edu	37	14	77861109	77861109	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:77861109C>A	ENST00000380835.2	-	6	1111	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	315					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.K315N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACGGAGTTTCCTTGAGTTGCA	0.423																																					p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945T	14						.						110.0	99.0	103.0					14																	77861109		1568	3582	5150	76930862	SO:0001583	missense	122945	exon6			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.945G>T	14.37:g.77861109C>A	ENSP00000370215:p.Lys315Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76930862	NM_001113475	B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130053	0.21041	.	.	ENSG00000165555	ENST00000380835	T	0.58797	0.31	5.14	2.28	0.28536	.	0.220205	0.36893	N	0.002345	T	0.46521	0.1397	M	0.63843	1.955	0.80722	D	1	B	0.34329	0.449	B	0.29716	0.106	T	0.29336	-1.0015	10	0.30854	T	0.27	-7.7172	6.5955	0.22669	0.0:0.6345:0.0:0.3655	.	315	Q6NXP6	NXRD1_HUMAN	N	315	ENSP00000370215:K315N	ENSP00000370215:K315N	K	-	3	2	C14orf148	76930862	0.980000	0.34600	0.999000	0.59377	0.333000	0.28666	0.102000	0.15272	0.540000	0.28808	0.563000	0.77884	AAG		0.423	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791	
SPTLC2	9517	broad.mit.edu	37	14	78045431	78045431	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:78045431C>A	ENST00000216484.2	-	3	542	c.349G>T	c.(349-351)Gat>Tat	p.D117Y		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	117					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.D117Y(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TTTTCAAAATCTTGATACAAT	0.358																																					p.D117Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349T	14						.						55.0	52.0	53.0					14																	78045431		2203	4300	6503	77115184	SO:0001583	missense	9517	exon3			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.349G>T	14.37:g.78045431C>A	ENSP00000216484:p.Asp117Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	77115184	NM_004863	Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.995579|4.995579	0.93167|0.93167	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	T|.	0.70986|.	-0.53|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82490|0.82490	0.5048|0.5048	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.55667|.	0.781|.	T|T	0.83332|0.83332	-0.0012|-0.0012	10|5	0.87932|.	D|.	0|.	-25.1615|-25.1615	19.4336|19.4336	0.94781|0.94781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	117|.	O15270|.	SPTC2_HUMAN|.	Y|I	117|53	ENSP00000216484:D117Y|.	ENSP00000216484:D117Y|.	D|R	-|-	1|2	0|0	SPTLC2|SPTLC2	77115184|77115184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.713000|7.713000	0.84693|0.84693	2.591000|2.591000	0.87537|0.87537	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.358	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863	
NRXN3	9369	broad.mit.edu	37	14	80164137	80164137	+	Missense_Mutation	SNP	C	C	T	rs370354082		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:80164137C>T	ENST00000557594.1	+	4	1719	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	NRXN3_ENST00000554719.1_Missense_Mutation_p.R888W|NRXN3_ENST00000335750.5_Missense_Mutation_p.R888W|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.R256W|NRXN3_ENST00000428277.2_Missense_Mutation_p.R286W	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	256					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R888W(1)|p.R286W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAAGTGTTCGGCTGGTTGG	0.458																																					p.R888W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2662T	14						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	99.0	89.0	92.0		856,2662,766	4.7	1.0	14		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN3	NM_001105250.1,NM_004796.4,NM_138970.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	286/460,888/1062,256/433	80164137	1,13005	2203	4300	6503	79233890	SO:0001583	missense	9369	exon15			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.766C>T	14.37:g.80164137C>T	ENSP00000451672:p.Arg256Trp	Somatic		Capture	Illumina HiSeq	Phase_I	79233890	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	C	15.93	2.977784	0.53720	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.70631	-0.5;-0.5;1.13;1.28;0.99	5.67	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.66297	2.02	0.48185	D	0.9996	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;P	0.77004	0.939;0.987;0.989;0.883	T	0.81274	-0.1007	9	.	.	.	.	15.4228	0.75025	0.2291:0.7709:0.0:0.0	.	286;256;256;888	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	W	1261;1280;888;888;256;256;286	ENSP00000451648:R888W;ENSP00000338349:R888W;ENSP00000451672:R256W;ENSP00000281127:R256W;ENSP00000394426:R286W	.	R	+	1	2	NRXN3	79233890	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.829000	0.39121	2.667000	0.90743	0.557000	0.71058	CGG		0.458	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
NRXN3	9369	broad.mit.edu	37	14	80164252	80164252	+	Missense_Mutation	SNP	G	G	A	rs144373051		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:80164252G>A	ENST00000557594.1	+	4	1834	c.881G>A	c.(880-882)cGt>cAt	p.R294H	NRXN3_ENST00000554719.1_Missense_Mutation_p.R926H|NRXN3_ENST00000335750.5_Missense_Mutation_p.R926H|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.R294H|NRXN3_ENST00000428277.2_Missense_Mutation_p.R324H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	294					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R926H(1)|p.R324H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCACAACCCGTAAGAATCGC	0.428																																					p.R926H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2777A	14						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	85.0	92.0		971,2777,881	5.8	1.0	14	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense,missense	NRXN3	NM_001105250.1,NM_004796.4,NM_138970.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	324/460,926/1062,294/433	80164252	1,13005	2203	4300	6503	79234005	SO:0001583	missense	9369	exon15			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.881G>A	14.37:g.80164252G>A	ENSP00000451672:p.Arg294His	Somatic		Capture	Illumina HiSeq	Phase_I	79234005	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.718922	0.89205	2.27E-4	0.0	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.69435	-0.4;-0.4;1.15;1.37;1.11	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.978	D;D;D;P	0.97110	0.999;1.0;0.961;0.888	T	0.78650	-0.2121	9	.	.	.	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	324;294;294;926	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	H	1299;1318;926;926;294;294;324	ENSP00000451648:R926H;ENSP00000338349:R926H;ENSP00000451672:R294H;ENSP00000281127:R294H;ENSP00000394426:R324H	.	R	+	2	0	NRXN3	79234005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.753000	0.94483	0.557000	0.71058	CGT		0.428	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
CEP128	145508	broad.mit.edu	37	14	81251880	81251880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:81251880C>A	ENST00000555265.1	-	15	1945	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.E524*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	524						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E524*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCATCCTTTTCTTTTAAAATC	0.338																																					p.E524X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1570T	14						.						18.0	18.0	18.0					14																	81251880		2174	4186	6360	80321633	SO:0001587	stop_gained	145508	exon14			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1570G>T	14.37:g.81251880C>A	ENSP00000451162:p.Glu524*	Somatic		Capture	Illumina HiSeq	Phase_I	80321633	NM_152446	B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	42	9.619249	0.99221	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.61	5.61	0.85477	.	0.217310	0.39615	N	0.001304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	.	.	.	X	524	.	ENSP00000281129:E524X	E	-	1	0	CEP128	80321633	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.541000	0.60670	2.808000	0.96608	0.549000	0.68633	GAA		0.338	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
TSHR	7253	broad.mit.edu	37	14	81610125	81610125	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:81610125G>A	ENST00000541158.2	+	11	2045	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E575K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	575					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.E575K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGACACCGAGACCCCTCT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.E575K		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1723A	14						.						411.0	322.0	352.0					14																	81610125		2203	4300	6503	80679878	SO:0001583	missense	7253	exon10			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1723G>A	14.37:g.81610125G>A	ENSP00000441235:p.Glu575Lys	Somatic		Capture	Illumina HiSeq	Phase_I	80679878	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034762	0.54896	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.37752	1.18;1.18	5.56	5.56	0.83823	.	0.141283	0.64402	D	0.000004	T	0.40398	0.1115	M	0.64260	1.97	0.45239	D	0.99824	B	0.27997	0.197	B	0.21546	0.035	T	0.26677	-1.0096	10	0.52906	T	0.07	.	19.5209	0.95184	0.0:0.0:1.0:0.0	.	575	F5GYU5	.	K	575;222;575	ENSP00000441235:E575K;ENSP00000298171:E575K	ENSP00000298171:E575K	E	+	1	0	TSHR	80679878	1.000000	0.71417	0.949000	0.38748	0.985000	0.73830	5.838000	0.69388	2.618000	0.88619	0.561000	0.74099	GAG		0.498	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
SEL1L	6400	broad.mit.edu	37	14	81965998	81965998	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:81965998G>T	ENST00000336735.4	-	7	902	c.786C>A	c.(784-786)ggC>ggA	p.G262G	SEL1L_ENST00000555824.1_Silent_p.G262G	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	262	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G262G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CATACAGAAAGCCAAGAGCCT	0.333																																					p.G262G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786A	14						.						39.0	40.0	39.0					14																	81965998		2203	4300	6503	81035751	SO:0001819	synonymous_variant	6400	exon7				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.786C>A	14.37:g.81965998G>T		Somatic		Capture	Illumina HiSeq	Phase_I	81035751	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	ENST00000336735.4	37	CCDS9876.1																																																																																				0.333	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
FLRT2	23768	broad.mit.edu	37	14	86088894	86088894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:86088894C>T	ENST00000330753.4	+	2	1803	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R346W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	346	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R346W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGAACAAGTCCGGGGGATGGC	0.517																																					p.R346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	14						.						109.0	120.0	116.0					14																	86088894		2203	4300	6503	85158647	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1036C>T	14.37:g.86088894C>T	ENSP00000332879:p.Arg346Trp	Somatic		Capture	Illumina HiSeq	Phase_I	85158647	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024209	0.54683	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02656	4.21;4.21	6.07	2.89	0.33648	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	M	0.89163	3.01	0.54753	D	0.999981	D	0.89917	1.0	D	0.68483	0.958	T	0.16630	-1.0396	10	0.87932	D	0	-19.2567	16.6003	0.84812	0.3499:0.6501:0.0:0.0	.	346	O43155	FLRT2_HUMAN	W	346	ENSP00000332879:R346W;ENSP00000451050:R346W	ENSP00000332879:R346W	R	+	1	2	FLRT2	85158647	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.628000	0.37060	0.852000	0.35287	0.655000	0.94253	CGG		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
PTPN21	11099	broad.mit.edu	37	14	88946670	88946670	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:88946670C>T	ENST00000556564.1	-	13	1389	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	PTPN21_ENST00000328736.3_Missense_Mutation_p.G369R	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	369					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.G369R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGTAGTATCCGTTCTGGTTG	0.438																																					p.G369R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1105A	14						.						65.0	64.0	64.0					14																	88946670		2203	4300	6503	88016423	SO:0001583	missense	11099	exon13			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1105G>A	14.37:g.88946670C>T	ENSP00000452414:p.Gly369Arg	Somatic		Capture	Illumina HiSeq	Phase_I	88016423	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943072	0.92526	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72942	-0.7;-0.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83468	0.5261	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.80489	-0.1360	10	0.29301	T	0.29	.	19.3874	0.94563	0.0:1.0:0.0:0.0	.	369	Q16825	PTN21_HUMAN	R	369	ENSP00000330276:G369R;ENSP00000452414:G369R	ENSP00000330276:G369R	G	-	1	0	PTPN21	88016423	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	6.070000	0.71220	2.590000	0.87494	0.561000	0.74099	GGA		0.438	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
EML5	161436	broad.mit.edu	37	14	89082533	89082533	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89082533A>G	ENST00000380664.5	-	41	5825	c.5826T>C	c.(5824-5826)ttT>ttC	p.F1942F	EML5_ENST00000352093.5_Silent_p.F1904F|EML5_ENST00000554922.1_Silent_p.F1950F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1942						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.F1950F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACCACTGGTAAATCGAATAT	0.433																																					p.F1950F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5850C	14						.						166.0	156.0	159.0					14																	89082533		1932	4130	6062	88152286	SO:0001819	synonymous_variant	161436	exon42			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5826T>C	14.37:g.89082533A>G		Somatic		Capture	Illumina HiSeq	Phase_I	88152286	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.433	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89124646	89124646	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89124646A>C	ENST00000380664.5	-	26	3761	c.3762T>G	c.(3760-3762)gtT>gtG	p.V1254V	EML5_ENST00000352093.5_Silent_p.V1216V|EML5_ENST00000554922.1_Silent_p.V1254V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1254						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.V1254V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGCCTAGGGTAACCAACATGC	0.413																																					p.V1254V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3762G	14						.						145.0	132.0	136.0					14																	89124646		1889	4126	6015	88194399	SO:0001819	synonymous_variant	161436	exon26			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3762T>G	14.37:g.89124646A>C		Somatic		Capture	Illumina HiSeq	Phase_I	88194399	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.413	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89153603	89153603	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89153603C>A	ENST00000380664.5	-	19	2810	c.2811G>T	c.(2809-2811)aaG>aaT	p.K937N	EML5_ENST00000352093.5_Missense_Mutation_p.K899N|EML5_ENST00000554922.1_Missense_Mutation_p.K937N			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	937						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.K937N(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCATAGGTCTTGAGACATC	0.358																																					p.K937N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2811T	14						.						57.0	50.0	52.0					14																	89153603		1804	4075	5879	88223356	SO:0001583	missense	161436	exon19			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2811G>T	14.37:g.89153603C>A	ENSP00000370039:p.Lys937Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88223356	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510191	0.64522	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.31769	1.48;2.2;2.72	4.5	2.66	0.31614	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	M	0.80847	2.515	0.50171	D	0.999857	D;D	0.89917	0.997;1.0	D;D	0.87578	0.979;0.998	T	0.50499	-0.8821	10	0.66056	D	0.02	-6.5932	4.4974	0.11844	0.0:0.5687:0.0:0.4313	.	937;937	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	N	937;899;937	ENSP00000451998:K937N;ENSP00000298315:K899N;ENSP00000370039:K937N	ENSP00000298315:K899N	K	-	3	2	EML5	88223356	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.589000	0.36644	1.250000	0.43966	0.467000	0.42956	AAG		0.358	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89206753	89206753	+	Missense_Mutation	SNP	C	C	T	rs566623060		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89206753C>T	ENST00000380664.5	-	5	688	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	EML5_ENST00000352093.5_Missense_Mutation_p.R230Q|EML5_ENST00000554922.1_Missense_Mutation_p.R230Q			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	230						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R230Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGTATTGTTCGTATAAGATT	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17792	0.0		0.0	False		,,,				2504	0.0				p.R230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	14						.						126.0	113.0	117.0					14																	89206753		1865	4109	5974	88276506	SO:0001583	missense	161436	exon5			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.689G>A	14.37:g.89206753C>T	ENSP00000370039:p.Arg230Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88276506	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674674	0.67928	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.25912	1.77;1.77;1.77	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.069109	0.56097	D	0.000036	T	0.38321	0.1036	L	0.39692	1.235	0.45930	D	0.998765	D	0.63880	0.993	P	0.60236	0.871	T	0.03898	-1.0994	10	0.20519	T	0.43	-7.2241	18.4547	0.90715	0.0:1.0:0.0:0.0	.	230	Q05BV3	EMAL5_HUMAN	Q	230	ENSP00000451998:R230Q;ENSP00000298315:R230Q;ENSP00000370039:R230Q	ENSP00000298315:R230Q	R	-	2	0	EML5	88276506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.699000	0.68310	2.347000	0.79759	0.491000	0.48974	CGA		0.353	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
TTC8	123016	broad.mit.edu	37	14	89337894	89337894	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89337894C>T	ENST00000345383.5	+	11	1105	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	TTC8_ENST00000338104.6_Splice_Site_p.R367W|TTC8_ENST00000354441.6_Splice_Site_p.R86W|TTC8_ENST00000358622.5_Splice_Site_p.R153W|TTC8_ENST00000380656.2_Splice_Site_p.R351W|TTC8_ENST00000536576.1_Splice_Site_p.R112W|TTC8_ENST00000346301.4_Splice_Site_p.R311W	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	377					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R351W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTGAAAAGGCGGCTGCTGCA	0.363																																					p.R341W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1021T	14						.						58.0	56.0	57.0					14																	89337894		2203	4300	6503	88407647	SO:0001630	splice_region_variant	123016	exon11			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1020-1C>T	14.37:g.89337894C>T		Somatic		Capture	Illumina HiSeq	Phase_I	88407647	NM_198309	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.540532|4.540532	0.85917|0.85917	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000557580|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622	.|T;T;T;T;T;T;T	.|0.58060	.|0.46;0.36;0.46;0.46;0.36;0.46;0.46	5.69|5.69	4.75|4.75	0.60458|0.60458	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75004|0.75004	0.3791|0.3791	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.998;0.993;0.999;1.0	T|T	0.79293|0.79293	-0.1863|-0.1863	5|10	.|0.87932	.|D	.|0	-11.3999|-11.3999	15.4633|15.4633	0.75377|0.75377	0.1393:0.8607:0.0:0.0|0.1393:0.8607:0.0:0.0	.|.	.|86;112;377;321;351	.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|.;.;TTC8_HUMAN;.;.	V|W	139|341;112;311;367;86;351;153	.|ENSP00000339486:R341W;ENSP00000445067:R112W;ENSP00000298324:R311W;ENSP00000337653:R367W;ENSP00000346427:R86W;ENSP00000370031:R351W;ENSP00000351439:R153W	.|ENSP00000337653:R367W	A|R	+|+	2|1	0|2	TTC8|TTC8	88407647|88407647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.674000|5.674000	0.68117|0.68117	2.685000|2.685000	0.91497|0.91497	0.484000|0.484000	0.47621|0.47621	GCG|CGG		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	Missense_Mutation
NRDE2	55051	broad.mit.edu	37	14	90782986	90782986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:90782986C>T	ENST00000354366.3	-	3	575	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	115								p.D115N(3)									TTTTCAGAATCGGTGTCTGTC	0.428																																					p.D115N												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G343A	14						.						239.0	226.0	230.0					14																	90782986		2203	4300	6503	89852739	SO:0001583	missense	55051	exon3			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.343G>A	14.37:g.90782986C>T	ENSP00000346335:p.Asp115Asn	Somatic		Capture	Illumina HiSeq	Phase_I	89852739	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159227	0.38119	.	.	ENSG00000119720	ENST00000354366	T	0.23950	1.88	5.3	5.3	0.74995	.	0.797515	0.12098	N	0.499775	T	0.18593	0.0446	L	0.47716	1.5	0.48975	D	0.999738	P	0.39782	0.688	B	0.28305	0.088	T	0.03619	-1.1019	10	0.18276	T	0.48	-14.9656	10.4224	0.44359	0.0:0.9102:0.0:0.0898	.	115	Q9H7Z3	CN102_HUMAN	N	115	ENSP00000346335:D115N	ENSP00000346335:D115N	D	-	1	0	C14orf102	89852739	0.884000	0.30299	0.065000	0.19835	0.043000	0.13939	2.765000	0.47621	2.627000	0.88993	0.655000	0.94253	GAT		0.428	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
CALM1	801	broad.mit.edu	37	14	90870303	90870303	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:90870303C>A	ENST00000356978.4	+	4	524	c.276C>A	c.(274-276)gtC>gtA	p.V92V	CALM1_ENST00000544280.2_Silent_p.V56V|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Silent_p.V93V|CALM1_ENST00000553542.1_Silent_p.V56V	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	92	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.V92V(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CATTCCGAGTCTTTGACAAGG	0.388																																					p.V92V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276A	14						.						83.0	76.0	79.0					14																	90870303		2203	4300	6503	89940056	SO:0001819	synonymous_variant	801	exon4				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.276C>A	14.37:g.90870303C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89940056	NM_006888	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000356978.4	37	CCDS9892.1																																																																																				0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1		
C14orf159	80017	broad.mit.edu	37	14	91626708	91626708	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:91626708C>T	ENST00000523771.1	+	3	673	c.70C>T	c.(70-72)Cca>Tca	p.P24S	C14orf159_ENST00000518665.2_Missense_Mutation_p.P24S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P24S|C14orf159_ENST00000298858.4_Missense_Mutation_p.P24S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P24S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P24S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P24S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P24S|C14orf159_ENST00000519019.1_Missense_Mutation_p.P24S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P24S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P24S|C14orf159_ENST00000518868.1_Missense_Mutation_p.P24S|C14orf159_ENST00000517877.1_Missense_Mutation_p.P24S|C14orf159_ENST00000525393.2_5'UTR			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	24						mitochondrion (GO:0005739)		p.P24S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ACAAAAGAAACCAAACATCAG	0.408																																					p.P24S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70T	14						.						86.0	80.0	82.0					14																	91626708		2203	4300	6503	90696461	SO:0001583	missense	80017	exon3			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.70C>T	14.37:g.91626708C>T	ENSP00000429655:p.Pro24Ser	Somatic		Capture	Illumina HiSeq	Phase_I	90696461	NM_024952	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	1.992	-0.431472	0.04669	.	.	ENSG00000133943	ENST00000521334;ENST00000522837;ENST00000518871;ENST00000298858;ENST00000521081;ENST00000520328;ENST00000256324;ENST00000524232;ENST00000522170;ENST00000519950;ENST00000523879;ENST00000521077;ENST00000518665;ENST00000518868;ENST00000519019;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000517362;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671;ENST00000517877	T;T;T;T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81659	1.6;1.6;1.6;1.6;-1.52;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.79	1.25	0.21368	.	1.024570	0.07794	N	0.955398	T	0.61527	0.2354	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B;B	0.21606	0.058;0.005;0.002;0.003;0.009;0.003	B;B;B;B;B;B	0.16289	0.015;0.004;0.004;0.006;0.009;0.009	T	0.43734	-0.9373	10	0.22706	T	0.39	.	3.8558	0.08974	0.0:0.3467:0.2627:0.3906	.	24;24;24;24;24;24	Q7Z3D6-6;Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	.;CN159_HUMAN;.;.;.;.	S	24	ENSP00000430022:P24S;ENSP00000427971:P24S;ENSP00000429189:P24S;ENSP00000298858:P24S;ENSP00000428997:P24S;ENSP00000429453:P24S;ENSP00000256324:P24S;ENSP00000429097:P24S;ENSP00000430666:P24S;ENSP00000428296:P24S;ENSP00000428122:P24S;ENSP00000430137:P24S;ENSP00000429098:P24S;ENSP00000428263:P24S;ENSP00000430318:P24S;ENSP00000428974:P24S;ENSP00000428652:P24S;ENSP00000404343:P24S;ENSP00000429806:P24S;ENSP00000429459:P24S;ENSP00000427953:P24S;ENSP00000429655:P24S;ENSP00000429392:P24S;ENSP00000404196:P24S;ENSP00000429949:P24S	ENSP00000256324:P24S	P	+	1	0	C14orf159	90696461	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.405000	0.07196	-0.017000	0.14103	-0.390000	0.06520	CCA		0.408	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	
CATSPERB	79820	broad.mit.edu	37	14	92054362	92054362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92054362G>A	ENST00000256343.3	-	25	3173	c.3017C>T	c.(3016-3018)gCt>gTt	p.A1006V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1006					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.A1006V(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATACACTGCAGCACCAAGAAT	0.299																																					p.A1006V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3017T	14						.						134.0	134.0	134.0					14																	92054362		2203	4296	6499	91124115	SO:0001583	missense	79820	exon25			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.3017C>T	14.37:g.92054362G>A	ENSP00000256343:p.Ala1006Val	Somatic		Capture	Illumina HiSeq	Phase_I	91124115	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363226	0.24684	.	.	ENSG00000133962	ENST00000256343	T	0.44482	0.92	5.4	-7.61	0.01299	.	1.877140	0.02767	N	0.119219	T	0.22975	0.0555	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.08534	-1.0717	10	0.24483	T	0.36	-0.336	2.4378	0.04487	0.484:0.0998:0.2135:0.2027	.	1006	Q9H7T0	CTSRB_HUMAN	V	1006	ENSP00000256343:A1006V	ENSP00000256343:A1006V	A	-	2	0	CATSPERB	91124115	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.467000	0.06664	-1.318000	0.02289	-0.825000	0.03093	GCT		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
TC2N	123036	broad.mit.edu	37	14	92253926	92253926	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92253926T>G	ENST00000435962.2	-	10	1416	c.1093A>C	c.(1093-1095)Aat>Cat	p.N365H	TC2N_ENST00000360594.5_Missense_Mutation_p.N365H|TC2N_ENST00000556018.1_Missense_Mutation_p.N301H|TC2N_ENST00000340892.5_Missense_Mutation_p.N365H	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	365	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.N365H(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTCTGCTATTTACTGCTTGA	0.358																																					p.N365H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1093C	14						.						123.0	112.0	116.0					14																	92253926		2203	4300	6503	91323679	SO:0001583	missense	123036	exon10			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1093A>C	14.37:g.92253926T>G	ENSP00000387882:p.Asn365His	Somatic		Capture	Illumina HiSeq	Phase_I	91323679	NM_152332		Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.346830	0.82022	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.14766	3.31;3.31;3.31;2.48;2.73	5.73	5.73	0.89815	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.29908	0.895	0.33316	D	0.566723	D;D	0.89917	0.999;1.0	D;D	0.85130	0.992;0.997	T	0.25813	-1.0121	10	0.62326	D	0.03	-33.1033	16.3123	0.82883	0.0:0.0:0.0:1.0	.	301;365	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	H	365;365;365;301;117	ENSP00000387882:N365H;ENSP00000343199:N365H;ENSP00000353802:N365H;ENSP00000451317:N301H;ENSP00000450922:N117H	ENSP00000343199:N365H	N	-	1	0	TC2N	91323679	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.602000	0.74141	2.308000	0.77769	0.533000	0.62120	AAT		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
TC2N	123036	broad.mit.edu	37	14	92268614	92268614	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92268614C>T	ENST00000435962.2	-	4	776	c.453G>A	c.(451-453)aaG>aaA	p.K151K	TC2N_ENST00000360594.5_Silent_p.K151K|TC2N_ENST00000556018.1_Silent_p.K151K|TC2N_ENST00000340892.5_Silent_p.K151K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	151			K -> T (in dbSNP:rs2402073). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.K151K(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CATACAGTCTCTTCACTTCTG	0.393																																					p.K151K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G453A	14						.						108.0	91.0	97.0					14																	92268614		2203	4300	6503	91338367	SO:0001819	synonymous_variant	123036	exon4			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.453G>A	14.37:g.92268614C>T		Somatic		Capture	Illumina HiSeq	Phase_I	91338367	NM_152332		Silent	SNP	ENST00000435962.2	37	CCDS9897.1																																																																																				0.393	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
TRIP11	9321	broad.mit.edu	37	14	92470155	92470155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92470155C>T	ENST00000267622.4	-	11	4538	c.4165G>A	c.(4165-4167)Gaa>Aaa	p.E1389K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1389					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E1389K(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCGGTTTGTTCGTGTTCTTTT	0.373			T	PDGFRB	AML																																p.E1389K	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4165A	14						.						123.0	121.0	122.0					14																	92470155		2203	4300	6503	91539908	SO:0001583	missense	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4165G>A	14.37:g.92470155C>T	ENSP00000267622:p.Glu1389Lys	Somatic		Capture	Illumina HiSeq	Phase_I	91539908	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785661|2.785661	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05139|.	3.49|.	5.36|5.36	3.49|3.49	0.39957|0.39957	.|.	0.058644|.	0.64402|.	D|.	0.000004|.	T|T	0.62901|0.62901	0.2466|0.2466	M|M	0.64997|0.64997	1.995|1.995	0.36485|0.36485	D|D	0.868091|0.868091	B;D|.	0.71674|.	0.116;0.998|.	B;P|.	0.62298|.	0.023;0.9|.	T|T	0.65821|0.65821	-0.6075|-0.6075	10|5	0.22109|.	T|.	0.4|.	.|.	10.6953|10.6953	0.45894|0.45894	0.0:0.7952:0.1326:0.0722|0.0:0.7952:0.1326:0.0722	.|.	1125;1389|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|Q	1389;1125|1104	ENSP00000267622:E1389K|.	ENSP00000267622:E1389K|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91539908|91539908	0.637000|0.637000	0.27216|0.27216	0.006000|0.006000	0.13384|0.13384	0.020000|0.020000	0.10135|0.10135	2.051000|2.051000	0.41307|0.41307	0.592000|0.592000	0.29728|0.29728	0.462000|0.462000	0.41574|0.41574	GAA|CGA		0.373	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
TRIP11	9321	broad.mit.edu	37	14	92472010	92472010	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92472010C>A	ENST00000267622.4	-	11	2683	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	770					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K770N(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCATGTCTTTCTTTTGATTGA	0.338			T	PDGFRB	AML																																p.K770N	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2310T	14						.						170.0	174.0	173.0					14																	92472010		2203	4298	6501	91541763	SO:0001583	missense	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2310G>T	14.37:g.92472010C>A	ENSP00000267622:p.Lys770Asn	Somatic		Capture	Illumina HiSeq	Phase_I	91541763	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.673|9.673	1.147250|1.147250	0.21288|0.21288	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.03889	.|3.77	5.82|5.82	3.99|3.99	0.46301|0.46301	.|.	.|0.049642	.|0.85682	.|D	.|0.000000	.|T	.|0.04363	.|0.0120	L|L	0.29908|0.29908	0.895|0.895	0.29698|0.29698	N|N	0.840372|0.840372	.|B;B	.|0.31625	.|0.152;0.332	.|B;B	.|0.29440	.|0.05;0.102	.|T	.|0.19353	.|-1.0308	.|10	.|0.31617	.|T	.|0.26	.|.	11.8341|11.8341	0.52312|0.52312	0.0:0.8567:0.0:0.1433|0.0:0.8567:0.0:0.1433	.|.	.|506;770	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	X|N	486|770;506	.|ENSP00000267622:K770N	.|ENSP00000267622:K770N	E|K	-|-	1|3	0|2	TRIP11|TRIP11	91541763|91541763	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.330000|0.330000	0.28571|0.28571	1.860000|1.860000	0.39428|0.39428	0.786000|0.786000	0.33708|0.33708	0.484000|0.484000	0.47621|0.47621	GAA|AAG		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
ATXN3	4287	broad.mit.edu	37	14	92563031	92563031	+	Missense_Mutation	SNP	C	C	T	rs531719156		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92563031C>T	ENST00000532032.1	-	2	185	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000545170.1_Missense_Mutation_p.R59H|ATXN3_ENST00000393287.5_Missense_Mutation_p.R59H|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.R59H|ATXN3_ENST00000429774.2_Missense_Mutation_p.R59H|ATXN3_ENST00000340660.6_Intron			P54252	ATX3_HUMAN	ataxin 3	59	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R59H(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TAAAAACGTGCGATAATCTTC	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14956	0.0		0.0	False		,,,				2504	0.0				p.R59H	Esophageal Squamous(190;752 2094 29897 44875 49530)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	14						.						191.0	147.0	162.0					14																	92563031		2203	4300	6503	91632784	SO:0001583	missense	4287	exon2			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.176G>A	14.37:g.92563031C>T	ENSP00000437157:p.Arg59His	Somatic		Capture	Illumina HiSeq	Phase_I	91632784	NM_001127696	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37		.	.	.	.	.	.	.	.	.	.	C	15.18	2.757737	0.49468	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	T;T;T;T;T;T;T;T	0.43294	0.95;0.96;0.95;0.96;0.95;0.95;0.95;1.45	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	L	0.54323	1.7	0.53005	D	0.999968	B;B;B	0.20780	0.04;0.048;0.017	B;B;B	0.25987	0.065;0.045;0.018	T	0.32295	-0.9912	10	0.51188	T	0.08	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	59;59;59	P54252;E9PB63;P54252-2	ATX3_HUMAN;.;.	H	59;59;59;59;59;59;59;59;58;59;59;59;59;59;59	ENSP00000445618:R59H;ENSP00000389376:R59H;ENSP00000376965:R59H;ENSP00000426697:R59H;ENSP00000437157:R59H;ENSP00000451385:R59H;ENSP00000451996:R59H;ENSP00000435571:R59H	ENSP00000352324:R59H	R	-	2	0	ATXN3	91632784	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.828000	0.69307	2.747000	0.94245	0.549000	0.68633	CGC		0.413	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	
SLC24A4	123041	broad.mit.edu	37	14	92909806	92909806	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:92909806C>T	ENST00000532405.1	+	7	871	c.645C>T	c.(643-645)atC>atT	p.I215I	SLC24A4_ENST00000393265.2_Silent_p.I151I|SLC24A4_ENST00000351924.5_Silent_p.I198I|SLC24A4_ENST00000531433.1_Silent_p.I215I|SLC24A4_ENST00000298877.1_Silent_p.I198I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	215					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.I198I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTCTGTCATCGTGCTCATCG	0.642																																					p.I151I	NSCLC(10;315 435 10383 28450 38798)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	14						.						214.0	139.0	164.0					14																	92909806		2203	4300	6503	91979559	SO:0001819	synonymous_variant	123041	exon7			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.645C>T	14.37:g.92909806C>T		Somatic		Capture	Illumina HiSeq	Phase_I	91979559	NM_153648	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502627	0.26949	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.11	-1.35	0.09114	.	.	.	.	.	T	0.49898	0.1584	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	5.5939	0.17317	0.1201:0.5387:0.0:0.3412	.	.	.	.	C	100	.	.	R	+	1	0	SLC24A4	91979559	0.070000	0.21116	0.848000	0.33437	0.980000	0.70556	-0.645000	0.05409	-0.661000	0.05345	-0.254000	0.11334	CGT		0.642	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
ITPK1	3705	broad.mit.edu	37	14	93483065	93483065	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:93483065C>T	ENST00000267615.6	-	4	375	c.202G>A	c.(202-204)Gac>Aac	p.D68N	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.D68N|ITPK1_ENST00000556603.2_Missense_Mutation_p.D68N			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	68					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.D68N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCATTCTGGTCGGCTTCAAGG	0.597																																					p.D68N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	14						.						140.0	114.0	123.0					14																	93483065		2203	4300	6503	92552818	SO:0001583	missense	3705	exon4			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.202G>A	14.37:g.93483065C>T	ENSP00000267615:p.Asp68Asn	Somatic		Capture	Illumina HiSeq	Phase_I	92552818	NM_001142593	Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041227	0.75732	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.1	5.1	0.69264	.	0.047097	0.85682	N	0.000000	T	0.78136	0.4236	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.751	T	0.78674	-0.2112	9	0.48119	T	0.1	1.9287	18.137	0.89622	0.0:1.0:0.0:0.0	.	68;68	Q13572;Q13572-2	ITPK1_HUMAN;.	N	68;98;68;68;68;86;68;68;68	.	ENSP00000267615:D68N	D	-	1	0	ITPK1	92552818	1.000000	0.71417	0.936000	0.37596	0.913000	0.54294	7.125000	0.77193	2.345000	0.79718	0.561000	0.74099	GAC		0.597	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	
BTBD7	55727	broad.mit.edu	37	14	93714872	93714872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:93714872G>A	ENST00000334746.5	-	9	2378	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R340*|BTBD7_ENST00000393170.2_Nonsense_Mutation_p.R265*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	691					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.R691*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTTAGCACTCGAATCTGAATT	0.527																																					p.R691X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2071T	14						.						87.0	80.0	82.0					14																	93714872		2203	4300	6503	92784625	SO:0001587	stop_gained	55727	exon9			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2071C>T	14.37:g.93714872G>A	ENSP00000335615:p.Arg691*	Somatic		Capture	Illumina HiSeq	Phase_I	92784625	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	37	6.226650	0.97394	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	.	.	.	5.81	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6058	0.88037	0.0:0.0:0.8683:0.1317	.	.	.	.	X	691;340;306;265	.	ENSP00000335615:R691X	R	-	1	2	BTBD7	92784625	1.000000	0.71417	0.716000	0.30569	0.977000	0.68977	6.258000	0.72487	2.753000	0.94483	0.563000	0.77884	CGA		0.527	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
BTBD7	55727	broad.mit.edu	37	14	93730195	93730195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:93730195G>A	ENST00000334746.5	-	4	1614	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	BTBD7_ENST00000554565.1_Missense_Mutation_p.S85L|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.S436L(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAACATCCGAAGTCATGAC	0.423																																					p.S436L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1307T	14						.						127.0	118.0	121.0					14																	93730195		2203	4300	6503	92799948	SO:0001583	missense	55727	exon4			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1307C>T	14.37:g.93730195G>A	ENSP00000335615:p.Ser436Leu	Somatic		Capture	Illumina HiSeq	Phase_I	92799948	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160683	0.94727	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	T;T	0.70516	-0.49;-0.49	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.992	D	0.83950	0.0316	10	0.87932	D	0	.	18.3233	0.90246	0.0:0.0:1.0:0.0	.	85;436	Q9P203-5;Q9P203	.;BTBD7_HUMAN	L	436;85	ENSP00000335615:S436L;ENSP00000451010:S85L	ENSP00000335615:S436L	S	-	2	0	BTBD7	92799948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.351000	0.79841	0.558000	0.71614	TCG		0.423	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
UNC79	57578	broad.mit.edu	37	14	94004429	94004429	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94004429G>T	ENST00000393151.2	+	12	1217	c.1217G>T	c.(1216-1218)aGg>aTg	p.R406M	UNC79_ENST00000553484.1_Missense_Mutation_p.R406M|UNC79_ENST00000555664.1_Missense_Mutation_p.R406M|UNC79_ENST00000256339.4_Missense_Mutation_p.R229M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	406					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R406M(1)|p.R229M(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TACTGCAAGAGGTGCCACTCA	0.562																																					p.R229M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G686T	14						.						77.0	71.0	73.0					14																	94004429		2203	4300	6503	93074182	SO:0001583	missense	57578	exon12			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1217G>T	14.37:g.94004429G>T	ENSP00000376858:p.Arg406Met	Somatic		Capture	Illumina HiSeq	Phase_I	93074182	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	27.9	4.873516	0.91664	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.36672	1.1	0.52099	D	0.999948	D;D	0.71674	0.998;0.994	D;D	0.79108	0.992;0.989	T	0.12811	-1.0533	10	0.87932	D	0	-14.7746	19.9698	0.97280	0.0:0.0:1.0:0.0	.	406;406	C9JQL1;Q9P2D8	.;UNC79_HUMAN	M	229;406;406;406;406	ENSP00000256339:R229M;ENSP00000450868:R406M;ENSP00000451360:R406M;ENSP00000376858:R406M	ENSP00000256339:R229M	R	+	2	0	KIAA1409	93074182	1.000000	0.71417	0.929000	0.37066	0.927000	0.56198	9.479000	0.97929	2.786000	0.95864	0.561000	0.74099	AGG		0.562	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94060055	94060055	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94060055C>T	ENST00000393151.2	+	23	3062	c.3062C>T	c.(3061-3063)tCt>tTt	p.S1021F	UNC79_ENST00000553484.1_Missense_Mutation_p.S1021F|UNC79_ENST00000555664.1_Missense_Mutation_p.S1021F|UNC79_ENST00000256339.4_Missense_Mutation_p.S844F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1021					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S844F(1)|p.S1021F(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCGAGTTCTCTCAGCTGTCT	0.478																																					p.S844F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2531T	14						.						249.0	215.0	226.0					14																	94060055		2203	4300	6503	93129808	SO:0001583	missense	57578	exon23			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3062C>T	14.37:g.94060055C>T	ENSP00000376858:p.Ser1021Phe	Somatic		Capture	Illumina HiSeq	Phase_I	93129808	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.447672	0.84101	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.53	5.53	0.82687	.	0.063666	0.64402	D	0.000004	T	0.46073	0.1374	L	0.49778	1.585	0.48762	D	0.999706	D	0.53151	0.958	P	0.54312	0.748	T	0.40327	-0.9569	10	0.87932	D	0	-16.6595	19.4497	0.94862	0.0:1.0:0.0:0.0	.	1021	C9JQL1	.	F	844;1021;1021;1021;1021	ENSP00000256339:S844F;ENSP00000450868:S1021F;ENSP00000451360:S1021F;ENSP00000376858:S1021F	ENSP00000256339:S844F	S	+	2	0	KIAA1409	93129808	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.146000	0.71777	2.617000	0.88574	0.557000	0.71058	TCT		0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94088042	94088042	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94088042G>T	ENST00000393151.2	+	30	4463	c.4463G>T	c.(4462-4464)aGc>aTc	p.S1488I	UNC79_ENST00000553484.1_Missense_Mutation_p.S1510I|UNC79_ENST00000555664.1_Missense_Mutation_p.S1488I|UNC79_ENST00000256339.4_Missense_Mutation_p.S1311I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1488					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1311I(1)|p.S1510I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAGAAGAAAGCATTCCGAAA	0.398																																					p.S1311I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3932T	14						.						73.0	72.0	73.0					14																	94088042		2203	4300	6503	93157795	SO:0001583	missense	57578	exon30			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4463G>T	14.37:g.94088042G>T	ENSP00000376858:p.Ser1488Ile	Somatic		Capture	Illumina HiSeq	Phase_I	93157795	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	18.60	3.659231	0.67586	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27557	1.71;1.66;1.71;1.71	5.98	5.98	0.97165	.	0.038494	0.85682	D	0.000000	T	0.34774	0.0909	L	0.29908	0.895	0.48762	D	0.999709	P	0.52692	0.955	P	0.48227	0.571	T	0.01909	-1.1249	10	0.48119	T	0.1	-18.1724	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1510	C9JQL1	.	I	1311;1488;1510;1488;1510	ENSP00000256339:S1311I;ENSP00000450868:S1488I;ENSP00000451360:S1510I;ENSP00000376858:S1488I	ENSP00000256339:S1311I	S	+	2	0	KIAA1409	93157795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.652000	0.83633	2.847000	0.97988	0.591000	0.81541	AGC		0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94107570	94107570	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94107570G>T	ENST00000393151.2	+	34	5997	c.5997G>T	c.(5995-5997)gaG>gaT	p.E1999D	UNC79_ENST00000553484.1_Missense_Mutation_p.E2021D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1960D|UNC79_ENST00000256339.4_Missense_Mutation_p.E1822D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1999					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1822D(1)|p.E2021D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCACTGACGAGCAGCCGACGG	0.478																																					p.E1822D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5466T	14						.						108.0	81.0	90.0					14																	94107570		2203	4300	6503	93177323	SO:0001583	missense	57578	exon34			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5997G>T	14.37:g.94107570G>T	ENSP00000376858:p.Glu1999Asp	Somatic		Capture	Illumina HiSeq	Phase_I	93177323	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	7.608	0.674223	0.14841	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19532	2.19;2.14;2.19;2.19	5.28	0.571	0.17352	.	0.161428	0.52532	D	0.000063	T	0.07863	0.0197	N	0.19112	0.55	0.33452	D	0.5838	B	0.02656	0.0	B	0.04013	0.001	T	0.22977	-1.0201	10	0.07644	T	0.81	-22.471	0.6729	0.00862	0.4005:0.1344:0.2338:0.2312	.	2021	C9JQL1	.	D	1822;1960;2021;1999;2021	ENSP00000256339:E1822D;ENSP00000450868:E1960D;ENSP00000451360:E2021D;ENSP00000376858:E1999D	ENSP00000256339:E1822D	E	+	3	2	KIAA1409	93177323	0.998000	0.40836	0.934000	0.37439	0.290000	0.27261	0.419000	0.21247	0.265000	0.21872	-0.355000	0.07637	GAG		0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94121597	94121597	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94121597G>T	ENST00000393151.2	+	39	6417	c.6417G>T	c.(6415-6417)aaG>aaT	p.K2139N	UNC79_ENST00000553484.1_Missense_Mutation_p.K2161N|UNC79_ENST00000555664.1_Missense_Mutation_p.K2100N|UNC79_ENST00000256339.4_Missense_Mutation_p.K1962N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2139					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K2161N(1)|p.K1962N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATAACAAAAAGAATTTACCAG	0.418																																					p.K1962N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5886T	14						.						87.0	88.0	88.0					14																	94121597		2203	4300	6503	93191350	SO:0001583	missense	57578	exon39			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6417G>T	14.37:g.94121597G>T	ENSP00000376858:p.Lys2139Asn	Somatic		Capture	Illumina HiSeq	Phase_I	93191350	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.165931	0.78339	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.71036	2.16	0.53005	D	0.99996	D	0.69078	0.997	D	0.71870	0.975	T	0.63220	-0.6686	10	0.87932	D	0	-23.6099	19.9928	0.97374	0.0:0.0:1.0:0.0	.	2161	C9JQL1	.	N	1962;2100;2161;2139;2161	ENSP00000256339:K1962N;ENSP00000450868:K2100N;ENSP00000451360:K2161N;ENSP00000376858:K2139N	ENSP00000256339:K1962N	K	+	3	2	KIAA1409	93191350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.947000	0.63583	2.745000	0.94114	0.650000	0.86243	AAG		0.418	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94155061	94155061	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94155061A>G	ENST00000393151.2	+	45	7077	c.7077A>G	c.(7075-7077)ggA>ggG	p.G2359G	UNC79_ENST00000553484.1_Silent_p.G2381G|UNC79_ENST00000555664.1_Silent_p.G2320G|UNC79_ENST00000256339.4_Silent_p.G2182G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2359					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2381G(1)|p.G2182G(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTTGGGGGACATCTCAAAG	0.493																																					p.G2182G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A6546G	14						.						92.0	86.0	88.0					14																	94155061		2203	4300	6503	93224814	SO:0001819	synonymous_variant	57578	exon45			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7077A>G	14.37:g.94155061A>G		Somatic		Capture	Illumina HiSeq	Phase_I	93224814	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
DDX24	57062	broad.mit.edu	37	14	94528554	94528554	+	Missense_Mutation	SNP	C	C	T	rs200980599		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94528554C>T	ENST00000330836.5	-	3	1263	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	DDX24_ENST00000544005.1_Missense_Mutation_p.A128T|DDX24_ENST00000555054.1_Missense_Mutation_p.A335T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	378	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.A378T(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTACAGGTGGCGCTTTTGTCA	0.488																																					p.A378T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A	14						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	159.0	137.0	145.0		1132	3.6	0.0	14		145	0,8600		0,0,4300	yes	missense	DDX24	NM_020414.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	378/860	94528554	1,13005	2203	4300	6503	93598307	SO:0001583	missense	57062	exon3			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1132G>A	14.37:g.94528554C>T	ENSP00000328690:p.Ala378Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93598307	NM_020414	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.617954	0.14129	2.27E-4	0.0	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03663	3.97;3.85;3.97	5.41	3.59	0.41128	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.275088	0.34133	N	0.004230	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.14578	0.011	T	0.46034	-0.9220	10	0.25106	T	0.35	-2.6897	6.8614	0.24069	0.0:0.6549:0.128:0.217	.	378	Q9GZR7	DDX24_HUMAN	T	378;128;323;335;335	ENSP00000328690:A378T;ENSP00000440623:A128T;ENSP00000452145:A335T	ENSP00000328690:A378T	A	-	1	0	DDX24	93598307	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.204000	0.17335	0.764000	0.33197	0.655000	0.94253	GCC		0.488	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	
PPP4R4	57718	broad.mit.edu	37	14	94731756	94731756	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94731756C>A	ENST00000304338.3	+	21	2384	c.2230C>A	c.(2230-2232)Ccc>Acc	p.P744T		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	744					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.P744T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCAAAGTCTGCCCAAGAACAT	0.348																																					p.P744T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2230A	14						.						145.0	154.0	151.0					14																	94731756		2203	4300	6503	93801509	SO:0001583	missense	57718	exon21			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2230C>A	14.37:g.94731756C>A	ENSP00000305924:p.Pro744Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93801509	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650503	0.29336	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.28	3.34	0.38264	.	0.866194	0.10215	N	0.701603	T	0.31857	0.0810	N	0.14661	0.345	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.10683	-1.0619	9	0.16896	T	0.51	-7.0111	6.7681	0.23579	0.0:0.5914:0.2468:0.1618	.	744	Q6NUP7	PP4R4_HUMAN	T	744	.	ENSP00000305924:P744T	P	+	1	0	PPP4R4	93801509	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	0.297000	0.19101	1.224000	0.43551	0.650000	0.86243	CCC		0.348	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA11	256394	broad.mit.edu	37	14	94914594	94914594	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94914594G>T	ENST00000334708.3	-	2	582	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	173					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S355Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGTTGTAACAGAATCTGTGAA	0.483																																					p.S173Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C518A	14						.						138.0	145.0	143.0					14																	94914594		2203	4300	6503	93984347	SO:0001583	missense	256394	exon2			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.518C>A	14.37:g.94914594G>T	ENSP00000335024:p.Ser173Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	93984347	NM_001080451	B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111301	0.37242	.	.	ENSG00000186910	ENST00000334708	D	0.84873	-1.91	5.04	3.07	0.35406	Serpin domain (3);	0.657063	0.14539	N	0.313405	D	0.89832	0.6829	M	0.83483	2.645	0.09310	N	1	P	0.44816	0.844	P	0.55667	0.781	T	0.80609	-0.1306	10	0.20519	T	0.43	.	11.8927	0.52638	0.1633:0.0:0.8367:0.0	.	173	Q86U17	SPA11_HUMAN	Y	173	ENSP00000335024:S173Y	ENSP00000335024:S173Y	S	-	2	0	SERPINA11	93984347	0.461000	0.25783	0.002000	0.10522	0.389000	0.30415	3.677000	0.54619	1.360000	0.45960	0.655000	0.94253	TCT		0.483	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
SERPINA11	256394	broad.mit.edu	37	14	94914787	94914787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94914787C>A	ENST00000334708.3	-	2	389	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	109					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E291*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TCAGGGGTTTCTGTGAGGTTG	0.597																																					p.E109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G325T	14						.						80.0	85.0	84.0					14																	94914787		2203	4300	6503	93984540	SO:0001587	stop_gained	256394	exon2			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.325G>T	14.37:g.94914787C>A	ENSP00000335024:p.Glu109*	Somatic		Capture	Illumina HiSeq	Phase_I	93984540	NM_001080451	B2RV07	Nonsense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549359	0.96501	.	.	ENSG00000186910	ENST00000334708	.	.	.	4.85	4.85	0.62838	.	0.089349	0.47093	D	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.0189	0.53331	0.0:0.9098:0.0:0.0902	.	.	.	.	X	109	.	ENSP00000335024:E109X	E	-	1	0	SERPINA11	93984540	0.001000	0.12720	0.978000	0.43139	0.984000	0.73092	0.614000	0.24314	2.516000	0.84829	0.655000	0.94253	GAA		0.597	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
SERPINA12	145264	broad.mit.edu	37	14	94962739	94962739	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94962739G>T	ENST00000341228.2	-	4	1671	c.876C>A	c.(874-876)ttC>ttA	p.F292L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.F292L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	292					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F292L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCCATCTGGAGAAAGTGTCCA	0.478																																					p.F292L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C876A	14						.						168.0	161.0	163.0					14																	94962739		2203	4300	6503	94032492	SO:0001583	missense	145264	exon4			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.876C>A	14.37:g.94962739G>T	ENSP00000342109:p.Phe292Leu	Somatic		Capture	Illumina HiSeq	Phase_I	94032492	NM_173850		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	0.896	-0.723920	0.03158	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84873	-1.91;-1.91	5.18	-6.9	0.01655	Serpin domain (3);	1.036800	0.07614	N	0.925829	T	0.58495	0.2126	N	0.10760	0.04	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.55909	-0.8066	10	0.02654	T	1	.	2.6709	0.05067	0.1195:0.3759:0.296:0.2086	.	292	Q8IW75	SPA12_HUMAN	L	292	ENSP00000451738:F292L;ENSP00000342109:F292L	ENSP00000342109:F292L	F	-	3	2	SERPINA12	94032492	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-2.188000	0.00758	-1.099000	0.02127	TTC		0.478	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
SERPINA12	145264	broad.mit.edu	37	14	94962866	94962866	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94962866C>T	ENST00000341228.2	-	4	1544	c.749G>A	c.(748-750)gGc>gAc	p.G250D	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G250D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	250					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G250D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATCGTCATAGCCAACTTGGTA	0.433																																					p.G250D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	14						.						195.0	185.0	189.0					14																	94962866		2203	4300	6503	94032619	SO:0001583	missense	145264	exon4			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.749G>A	14.37:g.94962866C>T	ENSP00000342109:p.Gly250Asp	Somatic		Capture	Illumina HiSeq	Phase_I	94032619	NM_173850		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423482	0.25639	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88664	-2.41;-2.41	5.5	2.35	0.29111	Serpin domain (3);	0.307283	0.28192	N	0.016244	D	0.91119	0.7204	M	0.78285	2.405	0.09310	N	1	D	0.64830	0.994	P	0.55055	0.767	D	0.83604	0.0130	10	0.36615	T	0.2	.	10.8926	0.47004	0.0:0.3691:0.5251:0.1058	.	250	Q8IW75	SPA12_HUMAN	D	250	ENSP00000451738:G250D;ENSP00000342109:G250D	ENSP00000342109:G250D	G	-	2	0	SERPINA12	94032619	0.000000	0.05858	0.003000	0.11579	0.325000	0.28411	0.389000	0.20751	0.551000	0.29008	0.561000	0.74099	GGC		0.433	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
SERPINA12	145264	broad.mit.edu	37	14	94964270	94964270	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94964270C>A	ENST00000341228.2	-	3	1260	c.465G>T	c.(463-465)aaG>aaT	p.K155N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K155N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	155					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K155N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGTAAAAGTTCTTGGCATCTT	0.453																																					p.K155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	14						.						120.0	116.0	117.0					14																	94964270		2203	4300	6503	94034023	SO:0001583	missense	145264	exon3			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.465G>T	14.37:g.94964270C>A	ENSP00000342109:p.Lys155Asn	Somatic		Capture	Illumina HiSeq	Phase_I	94034023	NM_173850		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185145	0.38609	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85861	-2.04;-2.04	5.3	4.4	0.53042	Serpin domain (3);	0.404487	0.23537	N	0.047118	D	0.83482	0.5264	M	0.80847	2.515	0.09310	N	1	P	0.35600	0.511	B	0.35353	0.201	T	0.79424	-0.1809	10	0.72032	D	0.01	.	7.163	0.25675	0.0:0.7224:0.0:0.2776	.	155	Q8IW75	SPA12_HUMAN	N	155	ENSP00000451738:K155N;ENSP00000342109:K155N	ENSP00000342109:K155N	K	-	3	2	SERPINA12	94034023	0.142000	0.22610	0.025000	0.17156	0.020000	0.10135	1.384000	0.34396	2.471000	0.83476	0.655000	0.94253	AAG		0.453	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
DICER1	23405	broad.mit.edu	37	14	95556938	95556938	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:95556938T>G	ENST00000526495.1	-	29	5957	c.5666A>C	c.(5665-5667)aAa>aCa	p.K1889T	DICER1_ENST00000527414.1_Missense_Mutation_p.K1889T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1889T|DICER1_ENST00000556045.1_Missense_Mutation_p.K787T|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.K1889T|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1889	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.K1889T(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCTTTAAATTTCCCCTTTCC	0.463			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.K1889T		yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5666C	14						.						221.0	221.0	221.0					14																	95556938		2203	4300	6503	94626691	SO:0001583	missense	23405	exon27	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5666A>C	14.37:g.95556938T>G	ENSP00000437256:p.Lys1889Thr	Somatic		Capture	Illumina HiSeq	Phase_I	94626691	NM_177438	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547909	0.65311	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.07	6.07	0.98685	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	N	0.02539	-0.55	0.80722	D	1	B;D	0.56035	0.032;0.974	B;D	0.64687	0.071;0.928	T	0.60546	-0.7242	10	0.15952	T	0.53	-32.5674	16.6407	0.85098	0.0:0.0:0.0:1.0	.	787;1889	B3KRG4;Q9UPY3	.;DICER_HUMAN	T	1889;1889;1889;1889;787	ENSP00000343745:K1889T;ENSP00000437256:K1889T;ENSP00000376783:K1889T;ENSP00000435681:K1889T;ENSP00000451041:K787T	ENSP00000343745:K1889T	K	-	2	0	DICER1	94626691	1.000000	0.71417	0.946000	0.38457	0.975000	0.68041	7.514000	0.81750	2.326000	0.78906	0.533000	0.62120	AAA		0.463	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
DICER1	23405	broad.mit.edu	37	14	95574017	95574017	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:95574017C>A	ENST00000526495.1	-	19	3023	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I	DICER1_ENST00000527414.1_Missense_Mutation_p.S911I|DICER1_ENST00000343455.3_Missense_Mutation_p.S911I|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.S911I|DICER1_ENST00000393063.1_Missense_Mutation_p.S911I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	911	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.S911I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATACTTTGTACTGGGAATGCC	0.348			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.S911I		yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2732T	14						.						93.0	97.0	96.0					14																	95574017		2203	4299	6502	94643770	SO:0001583	missense	23405	exon17	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2732G>T	14.37:g.95574017C>A	ENSP00000437256:p.Ser911Ile	Somatic		Capture	Illumina HiSeq	Phase_I	94643770	NM_177438	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355083	0.41700	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.86	4.05	0.47172	Argonaute/Dicer protein, PAZ (3);	0.164660	0.64402	D	0.000002	T	0.08670	0.0215	N	0.08118	0	0.41220	D	0.986501	P	0.37594	0.601	B	0.43575	0.424	T	0.41233	-0.9520	10	0.20046	T	0.44	-17.1134	9.6722	0.40019	0.0:0.7907:0.0:0.2093	.	911	Q9UPY3	DICER_HUMAN	I	911	ENSP00000343745:S911I;ENSP00000437256:S911I;ENSP00000376783:S911I;ENSP00000435681:S911I;ENSP00000444719:S911I	ENSP00000343745:S911I	S	-	2	0	DICER1	94643770	1.000000	0.71417	0.989000	0.46669	0.958000	0.62258	1.403000	0.34612	0.939000	0.37446	0.650000	0.86243	AGT		0.348	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
CLMN	79789	broad.mit.edu	37	14	95677180	95677180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:95677180C>T	ENST00000298912.4	-	7	758	c.645G>A	c.(643-645)tgG>tgA	p.W215*		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	215	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.W215*(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCCCACTCCTCCAACTGCCCG	0.552																																					p.W215X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G645A	14						.						110.0	114.0	113.0					14																	95677180		2203	4300	6503	94746933	SO:0001587	stop_gained	79789	exon7			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.645G>A	14.37:g.95677180C>T	ENSP00000298912:p.Trp215*	Somatic		Capture	Illumina HiSeq	Phase_I	94746933	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Nonsense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	41	8.942201	0.99010	.	.	ENSG00000165959	ENST00000298912	.	.	.	5.93	5.93	0.95920	.	0.000000	0.36854	N	0.002370	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000298912:W215X	W	-	3	0	CLMN	94746933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.797000	0.96272	0.655000	0.94253	TGG		0.552	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
ATG2B	55102	broad.mit.edu	37	14	96777914	96777914	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:96777914T>C	ENST00000359933.4	-	27	4848	c.3955A>G	c.(3955-3957)Ata>Gta	p.I1319V	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1319					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.I1319V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACTGCAGTTATGGTTAACTCC	0.279																																					p.I1319V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3955G	14						.						54.0	56.0	56.0					14																	96777914		2202	4299	6501	95847667	SO:0001583	missense	55102	exon27			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3955A>G	14.37:g.96777914T>C	ENSP00000353010:p.Ile1319Val	Somatic		Capture	Illumina HiSeq	Phase_I	95847667	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442120	0.83993	.	.	ENSG00000066739	ENST00000359933	T	0.12569	2.67	5.67	5.67	0.87782	.	0.204854	0.49305	D	0.000158	T	0.35335	0.0928	M	0.65498	2.005	0.58432	D	0.999998	D	0.63880	0.993	D	0.76071	0.987	T	0.02728	-1.1118	10	0.30078	T	0.28	.	15.9098	0.79463	0.0:0.0:0.0:1.0	.	1319	Q96BY7	ATG2B_HUMAN	V	1319	ENSP00000353010:I1319V	ENSP00000353010:I1319V	I	-	1	0	ATG2B	95847667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.106000	0.77039	2.158000	0.67659	0.455000	0.32223	ATA		0.279	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
AK7	122481	broad.mit.edu	37	14	96887191	96887191	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:96887191T>G	ENST00000267584.4	+	5	575	c.531T>G	c.(529-531)gaT>gaG	p.D177E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	177					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D177E(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGAAGAAGATTATCGAAGAA	0.358																																					p.D177E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T531G	14						.						96.0	97.0	97.0					14																	96887191		2203	4300	6503	95956944	SO:0001583	missense	122481	exon5			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.531T>G	14.37:g.96887191T>G	ENSP00000267584:p.Asp177Glu	Somatic		Capture	Illumina HiSeq	Phase_I	95956944	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516503	0.64634	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	4.07	0.47477	NAD(P)-binding domain (1);	0.240894	0.39475	N	0.001357	T	0.57755	0.2075	M	0.69185	2.1	0.80722	D	1	P	0.37864	0.61	B	0.39419	0.299	T	0.55218	-0.8175	10	0.40728	T	0.16	-41.5146	6.6192	0.22794	0.0:0.1857:0.0:0.8143	.	177	Q96M32	KAD7_HUMAN	E	177	ENSP00000267584:D177E	ENSP00000267584:D177E	D	+	3	2	AK7	95956944	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.562000	0.36353	0.848000	0.35191	0.459000	0.35465	GAT		0.358	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
EML1	2009	broad.mit.edu	37	14	100364626	100364626	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:100364626C>T	ENST00000262233.6	+	8	1023	c.884C>T	c.(883-885)tCg>tTg	p.S295L	EML1_ENST00000327921.9_Missense_Mutation_p.S283L|EML1_ENST00000334192.4_Missense_Mutation_p.S314L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	295	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S314L(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCGGGCACATCGAAGGATGGA	0.393																																					p.S314L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C941T	14						.						141.0	118.0	126.0					14																	100364626		2203	4300	6503	99434379	SO:0001583	missense	2009	exon9			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.884C>T	14.37:g.100364626C>T	ENSP00000262233:p.Ser295Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99434379	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231015	0.79688	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.47869	4.7;0.83;0.83;0.83;4.7	5.18	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.103327	0.64402	D	0.000002	T	0.53400	0.1794	L	0.51422	1.61	0.58432	D	0.999995	D;D;B;D;D	0.59357	0.982;0.969;0.265;0.962;0.985	P;P;B;B;P	0.51999	0.559;0.608;0.041;0.422;0.687	T	0.58918	-0.7551	10	0.87932	D	0	-14.8251	14.0089	0.64483	0.0:0.9265:0.0:0.0735	.	283;283;295;314;314	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	L	282;283;295;314;314;264	ENSP00000451346:S282L;ENSP00000327384:S283L;ENSP00000262233:S295L;ENSP00000334314:S314L;ENSP00000452089:S264L	ENSP00000262233:S295L	S	+	2	0	EML1	99434379	0.997000	0.39634	0.129000	0.21949	0.993000	0.82548	4.745000	0.62125	1.318000	0.45170	0.591000	0.81541	TCG		0.393	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
EML1	2009	broad.mit.edu	37	14	100404167	100404167	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:100404167C>A	ENST00000262233.6	+	20	2248	c.2109C>A	c.(2107-2109)gcC>gcA	p.A703A	EML1_ENST00000327921.9_Silent_p.A691A|EML1_ENST00000334192.4_Silent_p.A722A	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	703	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.A722A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCCCTCTGCCTGTAAGCAAG	0.512																																					p.A722A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2166A	14						.						221.0	189.0	200.0					14																	100404167		2203	4300	6503	99473920	SO:0001819	synonymous_variant	2009	exon21			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2109C>A	14.37:g.100404167C>A		Somatic		Capture	Illumina HiSeq	Phase_I	99473920	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	CCDS32155.1																																																																																				0.512	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
EVL	51466	broad.mit.edu	37	14	100603938	100603938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:100603938C>T	ENST00000402714.2	+	10	1586	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	EVL_ENST00000544450.2_Missense_Mutation_p.R334W|EVL_ENST00000392920.3_Missense_Mutation_p.R330W			Q9UI08	EVL_HUMAN	Enah/Vasp-like	328	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.R330W(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GCCCTGGGAGCGGAGCAACTC	0.617																																					p.R330W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988T	14						.						64.0	75.0	71.0					14																	100603938		2203	4300	6503	99673691	SO:0001583	missense	51466	exon10			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.982C>T	14.37:g.100603938C>T	ENSP00000384720:p.Arg328Trp	Somatic		Capture	Illumina HiSeq	Phase_I	99673691	NM_016337	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.190616	0.78789	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000554695	T;T;T;T	0.75821	-0.81;-0.97;-0.85;-0.16	4.73	3.74	0.42951	.	0.000000	0.64402	D	0.000003	D	0.82449	0.5039	M	0.63843	1.955	0.45307	D	0.998304	D;D;D	0.89917	1.0;0.999;1.0	D;P;P	0.77557	0.99;0.862;0.874	D	0.83966	0.0324	10	0.72032	D	0.01	-14.1914	11.7475	0.51828	0.3153:0.6847:0.0:0.0	.	334;330;328	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	W	328;334;330;293;145	ENSP00000384720:R328W;ENSP00000437904:R334W;ENSP00000376652:R330W;ENSP00000451821:R145W	ENSP00000376652:R330W	R	+	1	2	EVL	99673691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.506000	0.35747	2.163000	0.67991	0.561000	0.74099	CGG		0.617	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1		
SNORD113-4	767564	broad.mit.edu	37	14	101402852	101402852	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:101402852G>A	ENST00000364802.1	+	0	25				SNORD113-5_ENST00000607261.1_RNA|SNORD112_ENST00000516335.1_RNA	NR_003232.1				small nucleolar RNA, C/D box 113-4																		GTACCATGGGGTATCTGAAAC	0.338																																					.												.	.	0			.	14						.						120.0	117.0	118.0					14																	101402852		876	1991	2867	100472605			767565	.					14q32.31	2013-09-05			ENSG00000201672	ENSG00000201672		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32983	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003232		Approved	14q(I-4)	uc001yil.3				14.37:g.101402852G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100472605	.		5'Flank	SNP	ENST00000364802.1	37																																																																																					0.338	SNORD113-4-201	KNOWN	basic	snoRNA	snoRNA		NR_003232.1	
MIR412	574433	broad.mit.edu	37	14	101531806	101531806	+	RNA	SNP	C	C	T	rs115831106	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:101531806C>T	ENST00000362142.2	+	0	23				MIR369_ENST00000362155.3_RNA|MIR656_ENST00000385224.1_RNA|MIR409_ENST00000362237.1_RNA|MIR541_ENST00000401360.1_RNA|MIR410_ENST00000362222.2_RNA	NR_030155.1				microRNA 412																		GATGGATGGTCGACCAGTTGG	0.607													C|||	10	0.00199681	0.0061	0.0029	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	14						.	C		42,3094		0,42,1526	90.0	86.0	87.0			3.3	1.0	14	dbSNP_132	87	0,7164		0,0,3582	no	intergenic				0,42,5108	TT,TC,CC		0.0,1.3393,0.4078			101531806	42,10258	1568	3582	5150	100601559			442914	.					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531806C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100601559	.		5'Flank	SNP	ENST00000362142.2	37																																																																																					0.607	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155	
AHNAK2	113146	broad.mit.edu	37	14	105418701	105418701	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:105418701C>A	ENST00000333244.5	-	7	3206	c.3087G>T	c.(3085-3087)gaG>gaT	p.E1029D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1029						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E1029D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGGTCGGCCTCCACCTTGG	0.587																																					p.E1029D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3087T	14						.						147.0	160.0	156.0					14																	105418701		1985	4155	6140	104489746	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3087G>T	14.37:g.105418701C>A	ENSP00000353114:p.Glu1029Asp	Somatic		Capture	Illumina HiSeq	Phase_I	104489746	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	10.69	1.421821	0.25639	.	.	ENSG00000185567	ENST00000333244	T	0.00557	6.62	3.2	-2.11	0.07187	.	.	.	.	.	T	0.00328	0.0010	N	0.26130	0.795	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.40194	-0.9576	9	0.14656	T	0.56	.	0.9078	0.01288	0.2231:0.3086:0.2664:0.2018	.	1029	Q8IVF2	AHNK2_HUMAN	D	1029	ENSP00000353114:E1029D	ENSP00000353114:E1029D	E	-	3	2	AHNAK2	104489746	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-3.343000	0.00504	-0.302000	0.08869	-0.339000	0.08088	GAG		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
IGHG4	3503	broad.mit.edu	37	14	106091543	106091543	+	RNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:106091543T>C	ENST00000390543.2	-	0	350							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGACTGATGGTCCCCCCAGGA	0.622																																					.												.	.	0			.	14						.						52.0	68.0	63.0					14																	106091543		1995	4194	6189	105162588			8755	.			K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091543T>C		Somatic		Capture	Illumina HiSeq	Phase_I	105162588	.		RNA	SNP	ENST00000390543.2	37																																																																																					0.622	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019	
IGHV1-18	28468	broad.mit.edu	37	14	106641567	106641567	+	RNA	SNP	G	G	A	rs370195764	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:106641567G>A	ENST00000390605.2	-	0	405									immunoglobulin heavy variable 1-18																		TGTGTCTCTCGCACAGTAATA	0.532													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		12027	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	14						.	G		0,4138		0,0,2069	173.0	166.0	168.0			0.3	0.7	14		168	2,8368		0,2,4183	no	intergenic				0,2,6252	AA,AG,GG		0.0239,0.0,0.016			106641567	2,12506	2069	4185	6254	105712612			8755	.			M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641567G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105712612	.		RNA	SNP	ENST00000390605.2	37																																																																																					0.532	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019	
IGHV3-20	28445	broad.mit.edu	37	14	106667585	106667585	+	RNA	SNP	G	G	A	rs544392556		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:106667585G>A	ENST00000390606.2	-	0	408				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		TGTGTCTCTCGCACAGTGATA	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		11331	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	14						.						110.0	105.0	106.0					14																	106667585		1966	4139	6105	105738630			8755	.			M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106667585G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105738630	.		RNA	SNP	ENST00000390606.2	37																																																																																					0.572	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019	
SUPT16H	11198	broad.mit.edu	37	14	21831185	21831185	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21831185A>C	ENST00000216297.2	-	13	1850					NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCAGTGAAAACTCTTACTTC	0.448																																					.												.	.	2	Unknown(2)	ovary(1)|large_intestine(1)	.	14						.						163.0	154.0	157.0					14																	21831185		2203	4300	6503	20901025	SO:0001627	intron_variant	11198	.			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1511+7T>G	14.37:g.21831185A>C		Somatic		Capture	Illumina HiSeq	Phase_I	20901025	.	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Intron	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																				0.448	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
CHD8	57680	broad.mit.edu	37	14	21862363	21862363	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:21862363G>T	ENST00000557364.1	-	32	5863				SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Intron|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_5'Flank			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTGCAAGAGACAGGAGTAG	0.532																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						47.0	50.0	49.0					14																	21862363		1935	4125	6060	20932203	SO:0001627	intron_variant	57680	.			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5600-9C>A	14.37:g.21862363G>T		Somatic		Capture	Illumina HiSeq	Phase_I	20932203	.	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Intron	SNP	ENST00000557364.1	37	CCDS53885.1																																																																																				0.532	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
TRAV6	6956	broad.mit.edu	37	14	22236790	22236790	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22236790C>T	ENST00000390428.3	+	0	62									T cell receptor alpha variable 6																		TTTGGGGAGACGAATGGAGTC	0.473																																					.												.	.	0			.	14						.						286.0	287.0	287.0					14																	22236790		1945	4131	6076	21306630			0	.			Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22236790C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21306630	.		IGR	SNP	ENST00000390428.3	37																																																																																					0.473	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332	
TRAV12-1	28674	broad.mit.edu	37	14	22309920	22309920	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22309920C>T	ENST00000390433.1	+	0	304									T cell receptor alpha variable 12-1																		AGACTCCAAGCTCAGTGATTC	0.522																																					.												.	.	0			.	14						.						139.0	134.0	135.0					14																	22309920		1961	4155	6116	21379760			0	.			AE000659		14q11.2	2012-02-07			ENSG00000211785	ENSG00000211785		"""T cell receptors / TRA locus"""	12105	other	T cell receptor gene						8188290	Standard	NG_001332		Approved		uc001wbx.2		OTTHUMG00000168990		14.37:g.22309920C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21379760	.		IGR	SNP	ENST00000390433.1	37																																																																																					0.522	TRAV12-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401888.1	NG_001332	
TRAV8-3	28683	broad.mit.edu	37	14	22321160	22321160	+	RNA	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22321160T>G	ENST00000390435.1	+	0	318									T cell receptor alpha variable 8-3																		GTGATGCTGCTGAGTACTTCT	0.473																																					.												.	.	0			.	14						.						73.0	72.0	72.0					14																	22321160		2011	4193	6204	21391000			0	.			AE000659		14q11.2	2012-02-07			ENSG00000211787	ENSG00000211787		"""T cell receptors / TRA locus"""	12148	other	T cell receptor gene						8188290, 2971534	Standard	NG_001332		Approved				OTTHUMG00000168992		14.37:g.22321160T>G		Somatic		Capture	Illumina HiSeq	Phase_I	21391000	.		IGR	SNP	ENST00000390435.1	37																																																																																					0.473	TRAV8-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401890.1	NG_001332	
TRAV12-2	28673	broad.mit.edu	37	14	22356580	22356580	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22356580G>T	ENST00000390437.2	+	0	343									T cell receptor alpha variable 12-2																		CAAAGAAGATGGAAGGTTTAC	0.473																																					.												.	.	0			.	14						.						140.0	138.0	139.0					14																	22356580		1924	4132	6056	21426420			0	.			AE000659		14q11.2	2012-02-07			ENSG00000211789	ENSG00000211789		"""T cell receptors / TRA locus"""	12106	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168994		14.37:g.22356580G>T		Somatic		Capture	Illumina HiSeq	Phase_I	21426420	.		IGR	SNP	ENST00000390437.2	37																																																																																					0.473	TRAV12-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401892.1	NG_001332	
TRAV25	28658	broad.mit.edu	37	14	22580929	22580929	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22580929C>T	ENST00000390454.2	+	0	348									T cell receptor alpha variable 25																		AAGAACAGCTCCCTGCACATC	0.488																																					.												.	.	0			.	14						.						52.0	53.0	53.0					14																	22580929		1977	4188	6165	21650769			0	.			AE000660		14q11.2	2012-02-07			ENSG00000211806	ENSG00000211806		"""T cell receptors / TRA locus"""	12122	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV25S1, TCRAV32S1			OTTHUMG00000170653		14.37:g.22580929C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21650769	.		IGR	SNP	ENST00000390454.2	37																																																																																					0.488	TRAV25-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409901.1	NG_001332	
TRAV40	28641	broad.mit.edu	37	14	22782912	22782912	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22782912G>T	ENST00000390467.3	+	0	0									T cell receptor alpha variable 40																		CTAGGCCAGAGACACTAACAA	0.338																																					.												.	.	0			.	14						.						33.0	37.0	35.0					14																	22782912		1829	4088	5917	21852752			0	.			X73521		14q11.2	2012-02-07			ENSG00000211819	ENSG00000211819		"""T cell receptors / TRA locus"""	12141	other	T cell receptor gene						8412327	Standard	NG_001332		Approved	TCRAV31S1, TCRAV40S1			OTTHUMG00000170840		14.37:g.22782912G>T		Somatic		Capture	Illumina HiSeq	Phase_I	21852752	.		IGR	SNP	ENST00000390467.3	37																																																																																					0.338	TRAV40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410666.1	NG_001332	
TRDC	28526	broad.mit.edu	37	14	22932039	22932039	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22932039G>T	ENST00000390477.2	+	0	116				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TGTCATCCAAGAAGATAACAG	0.388																																					.												.	.	0			.	14						.						58.0	57.0	57.0					14																	22932039		1852	4109	5961	22001879			0	.			M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22932039G>T		Somatic		Capture	Illumina HiSeq	Phase_I	22001879	.		IGR	SNP	ENST00000390477.2	37																																																																																					0.388	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332	
TRDC	28526	broad.mit.edu	37	14	22935410	22935410	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:22935410C>T	ENST00000390477.2	+	0	720				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA|TRDV3_ENST00000535880.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											AGACCCCTATCTTTCCCTATA	0.423																																					.												.	.	0			.	14						.						76.0	75.0	75.0					14																	22935410		1849	4091	5940	22005250			0	.			M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22935410C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22005250	.		IGR	SNP	ENST00000390477.2	37																																																																																					0.423	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332	
TRAJ10	28745	broad.mit.edu	37	14	23004564	23004564	+	RNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23004564T>C	ENST00000390527.1	+	0	64				TRAJ7_ENST00000390530.1_RNA|TRAJ8_ENST00000390529.1_RNA|TRAJ9_ENST00000390528.1_RNA					T cell receptor alpha joining 10																		TTAAAGCAAGTAAGTTCCATG	0.373																																					.												.	.	0			.	14						.						63.0	61.0	61.0					14																	23004564		1825	4078	5903	22074404			0	.			M94081		14q11.2	2012-02-07			ENSG00000211879	ENSG00000211879		"""T cell receptors / TRA locus"""	12038	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170957		14.37:g.23004564T>C		Somatic		Capture	Illumina HiSeq	Phase_I	22074404	.		IGR	SNP	ENST00000390527.1	37																																																																																					0.373	TRAJ10-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410988.1	NG_001332	
TRAC	28755	broad.mit.edu	37	14	23020552	23020552	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23020552C>A	ENST00000478163.3	+	0	429							P01848	TCA_HUMAN	T cell receptor alpha constant						regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CATTCCAGATCTGCAAGATTG	0.537																																					.												.	.	0			.	14						.						102.0	102.0	102.0					14																	23020552		2095	4219	6314	22090392			0	.			X02592		14q11.2	2012-02-07			ENSG00000229164	ENSG00000277734		"""T cell receptors / TRA locus"""	12029	other	T cell receptor gene		186880				3875483, 8188290	Standard	NG_001332		Approved			P01848	OTTHUMG00000028683		14.37:g.23020552C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22090392	.		IGR	SNP	ENST00000478163.3	37																																																																																					0.537	TRAC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf	TR_C_gene	TR_C_gene	OTTHUMT00000071613.3	NG_001332	
MYH6	4624	broad.mit.edu	37	14	23876221	23876221	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:23876221G>A	ENST00000356287.3	-	2	231				MYH6_ENST00000405093.3_Intron			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGGCGCCATGCCCTACTCAC	0.572																																					.												.	.	0			.	14						.						223.0	225.0	224.0					14																	23876221		2203	4300	6503	22946061	SO:0001627	intron_variant	4624	.			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.201+10C>T	14.37:g.23876221G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22946061	.	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Intron	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																				0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
AKAP6	9472	broad.mit.edu	37	14	32902691	32902691	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:32902691G>T	ENST00000280979.4	+	0	162				AKAP6_ENST00000557272.1_5'UTR|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_5'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6						action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGAGGTTTAGACTTCTCCAT	0.453																																					.	Melanoma(49;821 1200 7288 13647 42351)											.	.	0			.	14						.						57.0	53.0	55.0					14																	32902691		2203	4300	6503	31972442	SO:0001623	5_prime_UTR_variant	9472	.			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.-9G>T	14.37:g.32902691G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31972442	.	A7E242|A7E2D4|O15028	5'UTR	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
SNX6	58533	broad.mit.edu	37	14	35037230	35037230	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:35037230G>T	ENST00000362031.4	-	12	988				SNX6_ENST00000396526.3_Intron|SNX6_ENST00000355110.5_Intron|SNX6_ENST00000396534.3_Intron	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6						intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTATAAAACAGAATGCTTCAC	0.388																																					.												.	.	0			.	14						.						50.0	47.0	48.0					14																	35037230		2203	4300	6503	34106981	SO:0001627	intron_variant	58533	.			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.958-11C>A	14.37:g.35037230G>T		Somatic		Capture	Illumina HiSeq	Phase_I	34106981	.	C0H5W9|Q9Y449	Intron	SNP	ENST00000362031.4	37	CCDS41942.1																																																																																				0.388	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3		
KIAA0391	9692	broad.mit.edu	37	14	35783556	35783556	+	Intron	SNP	C	C	A	rs34775948		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:35783556C>A	ENST00000557565.1	+	14	3536				PSMA6_ENST00000553809.1_Intron|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000261479.4_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000555764.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACATTAAATACTTTTTTTCAG	0.313																																					.												.	.	0			.	14						.						35.0	36.0	35.0					14																	35783556		2202	4297	6499	34853307	SO:0001627	intron_variant	5687	.			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1750-11C>A	14.37:g.35783556C>A		Somatic		Capture	Illumina HiSeq	Phase_I	34853307	.	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Intron	SNP	ENST00000557565.1	37	CCDS32063.1																																																																																				0.313	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
TTC6	319089	broad.mit.edu	37	14	38311366	38311366	+	Missense_Mutation	SNP	C	C	A	rs191201092	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:38311366C>A	ENST00000476979.1	+	13	1720	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	TTC6_ENST00000382320.3_3'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.S478Y|TTC6_ENST00000553443.1_Missense_Mutation_p.S1844Y			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	478								p.S478Y(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCAGCCCTGTCTTTGAAGCCT	0.303																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	14						.						80.0	86.0	84.0					14																	38311366		2203	4300	6503	37381117	SO:0001583	missense	0	.			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.1433C>A	14.37:g.38311366C>A	ENSP00000417788:p.Ser478Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37381117	.	Q3SY88|Q96CE6	IGR	SNP	ENST00000476979.1	37		.	.	.	.	.	.	.	.	.	.	C	15.86	2.958289	0.53400	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368	T;T;T	0.61392	0.11;0.11;0.11	5.35	4.45	0.53987	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.154815	0.46442	D	0.000291	T	0.71281	0.3321	L	0.60957	1.885	0.36940	D	0.892343	D;P	0.76494	0.999;0.747	D;B	0.79784	0.993;0.397	T	0.78585	-0.2147	9	0.66056	D	0.02	-14.0154	13.5551	0.61756	0.156:0.8439:0.0:0.0	.	1844;478	G3V3A5;Q86TZ1	.;TTC6_HUMAN	Y	1844;478;478	ENSP00000451131:S1844Y;ENSP00000417788:S478Y;ENSP00000267368:S478Y	ENSP00000267368:S478Y	S	+	2	0	TTC6	37381117	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.119000	0.50422	1.348000	0.45733	0.591000	0.81541	TCT		0.303	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299	
MDGA2	161357	broad.mit.edu	37	14	47324361	47324361	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:47324361A>C	ENST00000399232.2	-	15	2910				MDGA2_ENST00000357362.3_Intron|MDGA2_ENST00000439988.3_Intron|MDGA2_ENST00000399222.3_Intron|MDGA2_ENST00000426342.1_Intron	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2						pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.?(3)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGACACCTAAAAATGACAAT	0.308																																					.												.	.	3	Unknown(3)	large_intestine(3)	.	14						.						80.0	73.0	75.0					14																	47324361		1797	4057	5854	46394111	SO:0001627	intron_variant	161357	.			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.2546-4T>G	14.37:g.47324361A>C		Somatic		Capture	Illumina HiSeq	Phase_I	46394111	.	F6W3S7|J3KPX6	Intron	SNP	ENST00000399232.2	37																																																																																					0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
DNAAF2	55172	broad.mit.edu	37	14	50094729	50094729	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50094729C>T	ENST00000298292.8	-	2	2088		c.e2+1		DNAAF2_ENST00000406043.3_Intron|RP11-649E7.7_ENST00000556657.1_RNA	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2						axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.?(1)		kidney(1)|lung(4)	5						AACTTCCTTACCTTTGCATTA	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						41.0	39.0	40.0					14																	50094729		2202	4294	6496	49164479	SO:0001630	splice_region_variant	55172	.			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2007+1G>A	14.37:g.50094729C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49164479	.	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Splice_Site	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913272	0.72983	.	.	ENSG00000165506	ENST00000298292	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7334	0.91744	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAAF2	49164479	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.816000	0.62642	2.725000	0.93324	0.558000	0.71614	.		0.328	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		Intron
CDKL1	8814	broad.mit.edu	37	14	50863833	50863833	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:50863833G>T	ENST00000356146.1	-	0	456				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_5'Flank|RP11-247L20.3_ENST00000556713.1_lincRNA			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					AACTTCCGCAGGCCGTGCAAA	0.662																																					.												.	.	0			.	14						.						17.0	17.0	17.0					14																	50863833		875	1991	2866	49933583	SO:0001623	5_prime_UTR_variant	8814	.			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-2526C>A	14.37:g.50863833G>T		Somatic		Capture	Illumina HiSeq	Phase_I	49933583	.	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000356146.1	37																																																																																					0.662	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2		
TRIM9	114088	broad.mit.edu	37	14	51446279	51446279	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:51446279G>T	ENST00000298355.3	-	9	3029				TRIM9_ENST00000338969.5_Intron	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGTAGGAAAAGAGAAAAATTG	0.428																																					.												.	.	0			.	14						.						121.0	135.0	130.0					14																	51446279		2201	4300	6501	50516029	SO:0001627	intron_variant	114088	.			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1908-12C>A	14.37:g.51446279G>T		Somatic		Capture	Illumina HiSeq	Phase_I	50516029	.	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Intron	SNP	ENST00000298355.3	37	CCDS9703.1																																																																																				0.428	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
DDHD1	80821	broad.mit.edu	37	14	53558495	53558495	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:53558495G>T	ENST00000323669.5	-	4	1289				DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATTCATCAAAGAACTTACATA	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						124.0	122.0	123.0					14																	53558495		2203	4299	6502	52628245	SO:0001627	intron_variant	80821	.			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1289+7C>A	14.37:g.53558495G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52628245	.	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Intron	SNP	ENST00000323669.5	37	CCDS53895.1																																																																																				0.363	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
DLGAP5	9787	broad.mit.edu	37	14	55615197	55615197	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:55615197G>T	ENST00000247191.2	-	19	2635				DLGAP5_ENST00000395425.2_Intron	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.?(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTGGCTGGAGAACAAATCCA	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						70.0	75.0	73.0					14																	55615197		2203	4300	6503	54684950	SO:0001627	intron_variant	9787	.			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2419-6C>A	14.37:g.55615197G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54684950	.	A8MTM6|B4DRM8|Q86T11|Q8NG58	Intron	SNP	ENST00000247191.2	37	CCDS9723.1																																																																																				0.368	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
PCNXL4	64430	broad.mit.edu	37	14	60575027	60575027	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:60575027C>A	ENST00000406854.1	+	2	1225	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	PCNXL4_ENST00000391611.2_Missense_Mutation_p.S224Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S224Y|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	224						integral component of membrane (GO:0016021)		p.S224Y(1)									TTCTTTGTTTCTGTGGATCTG	0.323																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	14						.						91.0	99.0	97.0					14																	60575027		876	1991	2867	59644780	SO:0001583	missense	64430	.			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.671C>A	14.37:g.60575027C>A	ENSP00000384801:p.Ser224Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	59644780	.	A8MXM2|Q9BQG8|Q9H9F2	Intron	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	C	15.57	2.872497	0.51695	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.22743	1.94;1.94	5.09	4.2	0.49525	.	0.379473	0.08080	U	1.000000	T	0.39226	0.1070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03175	-1.1064	7	0.62326	D	0.03	.	13.5798	0.61896	0.0:0.9244:0.0:0.0756	.	.	.	.	Y	224	ENSP00000384801:S224Y;ENSP00000385713:S224Y	ENSP00000375469:S224Y	S	+	2	0	C14orf135	59644780	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.374000	0.66167	1.270000	0.44297	0.655000	0.94253	TCT		0.323	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	
MED6	10001	broad.mit.edu	37	14	71059715	71059715	+	Intron	SNP	G	G	T	rs538548369		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:71059715G>T	ENST00000256379.5	-	5	387				MED6_ENST00000556044.1_Intron|MED6_ENST00000440435.2_Intron|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000554963.1_Intron|MED6_ENST00000430055.2_Silent_p.S123S	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6						gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GCTTGTAAAAGGAAAATAAAC	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						87.0	82.0	84.0					14																	71059715		2203	4300	6503	70129468	SO:0001627	intron_variant	10001	.			BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.358-10C>A	14.37:g.71059715G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70129468	.	B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Intron	SNP	ENST00000256379.5	37	CCDS9805.1																																																																																				0.353	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466	
RGS6	9628	broad.mit.edu	37	14	72925092	72925092	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:72925092C>A	ENST00000553530.1	+	5	549				RGS6_ENST00000554782.1_5'Flank|RGS6_ENST00000434263.2_Intron|RGS6_ENST00000355512.6_Intron|RGS6_ENST00000406236.4_Intron|RGS6_ENST00000556437.1_Intron|RGS6_ENST00000407322.4_Intron|RGS6_ENST00000553525.1_Intron|RGS6_ENST00000553690.1_Intron|RGS6_ENST00000404301.2_Intron|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000402788.2_Intron	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAGGTAAGCCTGCTGGCTCC	0.478																																					.	Ovarian(143;1926 2468 21071 48641)											.	.	1	Unknown(1)	large_intestine(1)	.	14						.						128.0	89.0	102.0					14																	72925092		2203	4300	6503	71994845	SO:0001627	intron_variant	9628	.			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.342+7C>A	14.37:g.72925092C>A		Somatic		Capture	Illumina HiSeq	Phase_I	71994845	.	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Intron	SNP	ENST00000553530.1	37	CCDS9808.1																																																																																				0.478	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		
RGS6	9628	broad.mit.edu	37	14	72985047	72985047	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:72985047C>T	ENST00000553530.1	+	15	1298				RGS6_ENST00000554782.1_Intron|RGS6_ENST00000434263.2_Intron|RGS6_ENST00000355512.6_Intron|RGS6_ENST00000406236.4_Intron|RGS6_ENST00000556437.1_Intron|RGS6_ENST00000407322.4_Intron|RGS6_ENST00000553525.1_Intron|RGS6_ENST00000404301.2_Intron|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000402788.2_Intron	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGTGTTTCTGCTCCCACTTCA	0.532																																					.	Ovarian(143;1926 2468 21071 48641)											.	.	0			.	14						.						59.0	58.0	59.0					14																	72985047		2203	4300	6503	72054800	SO:0001627	intron_variant	9628	.			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1092-12C>T	14.37:g.72985047C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72054800	.	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Intron	SNP	ENST00000553530.1	37	CCDS9808.1																																																																																				0.532	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		
SEL1L	6400	broad.mit.edu	37	14	81964844	81964844	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:81964844A>C	ENST00000336735.4	-	9	1008					NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)						Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TAACCCTGTAAAACAACTTCA	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						93.0	84.0	87.0					14																	81964844		2203	4300	6503	81034597	SO:0001627	intron_variant	6400	.				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.892-6T>G	14.37:g.81964844A>C		Somatic		Capture	Illumina HiSeq	Phase_I	81034597	.	Q6UWT6|Q9P1T9|Q9UHK7	Intron	SNP	ENST00000336735.4	37	CCDS9876.1																																																																																				0.443	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
EML5	161436	broad.mit.edu	37	14	89082205	89082205	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:89082205T>C	ENST00000380664.5	-	42	5873				EML5_ENST00000352093.5_Intron|EML5_ENST00000554922.1_Intron			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAAGCTGCAATCAGAGAAGAA	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						86.0	75.0	78.0					14																	89082205		1832	4078	5910	88151958	SO:0001627	intron_variant	161436	.			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5874-7A>G	14.37:g.89082205T>C		Somatic		Capture	Illumina HiSeq	Phase_I	88151958	.	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Intron	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.323	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
LINC00521	256369	broad.mit.edu	37	14	94467592	94467592	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94467592G>A	ENST00000444118.1	+	0	670					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521									p.E94K(1)									GAAGCGCCTCGAGGCCTTCTG	0.622																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	14						.						55.0	48.0	50.0					14																	94467592		2203	4300	6503	93537345			256369	.			BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94467592G>A		Somatic		Capture	Illumina HiSeq	Phase_I	93537345	.	Q8N7S1	Missense_Mutation	SNP	ENST00000444118.1	37																																																																																					0.622	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1		
SERPINA10	51156	broad.mit.edu	37	14	94750499	94750499	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:94750499A>C	ENST00000393096.1	-	5	1609				SERPINA10_ENST00000554173.1_Intron|SERPINA10_ENST00000554723.1_Intron|SERPINA10_ENST00000261994.4_Intron	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10						blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAAACCTGGAAAAAGGAAATA	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						63.0	56.0	58.0					14																	94750499		2203	4300	6503	93820252	SO:0001627	intron_variant	51156	.			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1144-6T>G	14.37:g.94750499A>C		Somatic		Capture	Illumina HiSeq	Phase_I	93820252	.	A5Z2A5|Q6UWX9|Q86U20	Intron	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																				0.433	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
CYP46A1	10858	broad.mit.edu	37	14	100191724	100191724	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:100191724G>A	ENST00000261835.3	+	13	1280				CYP46A1_ENST00000423126.2_Intron|CYP46A1_ENST00000554176.1_Intron	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCCTTTGCCCGCAGTTCAGCA	0.597																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						102.0	89.0	93.0					14																	100191724		2203	4300	6503	99261477	SO:0001627	intron_variant	10858	.			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1177-4G>A	14.37:g.100191724G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99261477	.	B4DHP8|E7EQG9|Q8N2B0	Intron	SNP	ENST00000261835.3	37	CCDS9954.1																																																																																				0.597	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1		
IGHV3-35	28432	broad.mit.edu	37	14	106845583	106845583	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr14:106845583C>T	ENST00000390617.2	-	0	105									immunoglobulin heavy variable 3-35 (non-functional)																		CCAGGCTGTACCAAGCCTCCC	0.557																																					.												.	.	0			.	14						.						87.0	81.0	83.0					14																	106845583		1858	4091	5949	105916628			8755	.			M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845583C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105916628	.		RNA	SNP	ENST00000390617.2	37																																																																																					0.557	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019	
HERC2P3	283755	broad.mit.edu	37	15	20643901	20643901	+	RNA	SNP	C	C	T	rs139087049	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:20643901C>T	ENST00000428453.1	-	0	3558							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.V957M(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGAACTGCACGGTGATTTTG	0.512													.|||	4	0.000798722	0.0008	0.0	5008	,	,		20128	0.002		0.0	False		,,,				2504	0.001				.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	15						.	C		5,4373		0,5,2184	76.0	65.0	69.0			2.9	0.9	15	dbSNP_134	69	0,8534		0,0,4267	no	intergenic				0,5,6451	TT,TC,CC		0.0,0.1142,0.0387			20643901	5,12907	2189	4267	6456	18903915			0	.			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643901C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18903915	.		IGR	SNP	ENST00000428453.1	37																																																																																					0.512	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
POTEB2	100287399	broad.mit.edu	37	15	21042705	21042705	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:21042705A>C	ENST00000454856.4	-	10	1331					NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2									p.?(1)									CACTAGAAGAAATTTTAATTT	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.																																			19307299	SO:0001627	intron_variant	339010	.				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.1299-9T>G	15.37:g.21042705A>C		Somatic		Capture	Illumina HiSeq	Phase_I	19307299	.		Intron	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.353	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
OR4M2	390538	broad.mit.edu	37	15	22369275	22369275	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:22369275A>G	ENST00000332663.2	+	1	798	c.700A>G	c.(700-702)Aat>Gat	p.N234D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234D(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCAGGTGAGAATACCAACAG	0.463																																					p.N234D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A700G	15						.						320.0	219.0	253.0					15																	22369275		2203	4300	6503	19870639	SO:0001583	missense	390538	exon1			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.700A>G	15.37:g.22369275A>G	ENSP00000329467:p.Asn234Asp	Somatic		Capture	Illumina HiSeq	Phase_I	19870639	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.366085	0.24684	.	.	ENSG00000182974	ENST00000332663	T	0.00076	8.76	2.5	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.225081	0.31624	N	0.007332	T	0.00073	0.0002	N	0.05230	-0.09	0.20196	N	0.999923	B	0.02656	0.0	B	0.04013	0.001	T	0.26121	-1.0112	10	0.59425	D	0.04	-6.6559	5.9907	0.19460	0.8589:0.0:0.1411:0.0	.	234	Q8NGB6	OR4M2_HUMAN	D	234	ENSP00000329467:N234D	ENSP00000329467:N234D	N	+	1	0	OR4M2	19870639	0.000000	0.05858	0.717000	0.30585	0.860000	0.49131	0.755000	0.26405	0.213000	0.20722	-0.619000	0.04042	AAT		0.463	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4N4	283694	broad.mit.edu	37	15	22383136	22383136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:22383136C>A	ENST00000328795.4	+	1	755	c.664C>A	c.(664-666)Ctc>Atc	p.L222I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L222I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCAGTCATCCTCTGCCATGT	0.493																																					p.L222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664A	15						.						164.0	135.0	145.0					15																	22383136		2192	4261	6453	19884500	SO:0001583	missense	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.664C>A	15.37:g.22383136C>A	ENSP00000332500:p.Leu222Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19884500	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.631	0.117282	0.08881	.	.	ENSG00000183706	ENST00000328795	T	0.00152	8.66	3.37	-1.34	0.09143	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	N	0.004940	T	0.00144	0.0004	L	0.38692	1.165	0.09310	N	1	B	0.29671	0.254	B	0.43575	0.424	T	0.40794	-0.9544	10	0.72032	D	0.01	-4.5287	2.6803	0.05091	0.3441:0.309:0.0:0.3468	.	222	Q8N0Y3	OR4N4_HUMAN	I	222	ENSP00000332500:L222I	ENSP00000332500:L222I	L	+	1	0	OR4N4	19884500	0.000000	0.05858	0.235000	0.24058	0.039000	0.13416	-5.926000	0.00090	-0.411000	0.07530	0.404000	0.27445	CTC		0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
IGHV1OR15-3	646370	broad.mit.edu	37	15	22466124	22466124	+	IGR	SNP	C	C	T	rs572243782	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:22466124C>T								AC010760.1 (5773 upstream) : IGHV4OR15-8 (6793 downstream)																							AGGCTGTGCTCGAAGATGTGT	0.512													g|||	2	0.000399361	0.0	0.0029	5008	,	,		31398	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	15						.						402.0	380.0	387.0					15																	22466124		2125	4233	6358	19967488	SO:0001628	intergenic_variant	0	.																															15.37:g.22466124C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19967488	.		IGR	SNP		37																																																																																				0	0.512								
IGHV1OR15-4	646379	broad.mit.edu	37	15	22483082	22483082	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:22483082G>T								IGHV4OR15-8 (9729 upstream) : MIR1268A (30146 downstream)																							CCTTCACTGAGGACAGAGGCT	0.527																																					.												.	.	0			.	15						.						203.0	181.0	189.0					15																	22483082		2049	4194	6243	19984446	SO:0001628	intergenic_variant	0	.																															15.37:g.22483082G>T		Somatic		Capture	Illumina HiSeq	Phase_I	19984446	.		IGR	SNP		37																																																																																				0	0.527								
MKRN3	7681	broad.mit.edu	37	15	23811972	23811972	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:23811972G>T	ENST00000314520.3	+	1	1519	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.R108I	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	348					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R348I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGCAGGTGGAGAAGTGCCAGA	0.512																																					p.R348I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1043T	15						.						111.0	101.0	105.0					15																	23811972		2203	4300	6503	21363065	SO:0001583	missense	7681	exon1			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1043G>T	15.37:g.23811972G>T	ENSP00000313881:p.Arg348Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21363065	NM_005664		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975389	0.34848	.	.	ENSG00000179455	ENST00000314520	T	0.66995	-0.24	4.07	4.07	0.47477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81714	-0.0807	10	0.87932	D	0	.	14.5895	0.68354	0.0:0.0:1.0:0.0	.	348	Q13064	MKRN3_HUMAN	I	348	ENSP00000313881:R348I	ENSP00000313881:R348I	R	+	2	0	MKRN3	21363065	1.000000	0.71417	0.962000	0.40283	0.590000	0.36582	8.986000	0.93492	2.567000	0.86603	0.655000	0.94253	AGA		0.512	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
NPAP1	23742	broad.mit.edu	37	15	24922742	24922742	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:24922742T>G	ENST00000329468.2	+	1	2202	c.1728T>G	c.(1726-1728)gtT>gtG	p.V576V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	576					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V576V(1)									CTGAAGTAGTTAATATGGATA	0.468																																					p.V576V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1728G	15						.						117.0	109.0	111.0					15																	24922742		2203	4300	6503	22473835	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1728T>G	15.37:g.24922742T>G		Somatic		Capture	Illumina HiSeq	Phase_I	22473835	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.468	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
SNURF	8926	broad.mit.edu	37	15	25213166	25213166	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25213166G>T	ENST00000577949.1	+	3	261	c.198G>T	c.(196-198)gaG>gaT	p.E66D	SNURF_ENST00000338327.4_Missense_Mutation_p.E66D|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.E66D|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.E66D|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	66						nucleus (GO:0005634)		p.E66D(1)		breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TCTTAGCTGAGACACCAAGAG	0.468																																					p.E66D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G198T	15						.						114.0	102.0	106.0					15																	25213166		2203	4300	6503	22764259	SO:0001583	missense	8926	exon3				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.198G>T	15.37:g.25213166G>T	ENSP00000463201:p.Glu66Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22764259	NM_022804	A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647129	0.47258	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.39	2.48	0.30137	.	.	.	.	.	T	0.53286	0.1787	.	.	.	0.25349	N	0.988881	P	0.51057	0.941	P	0.60415	0.874	T	0.38023	-0.9680	7	0.87932	D	0	-10.0321	6.3778	0.21517	0.1339:0.0:0.8661:0.0	.	66	Q9Y675	SNURF_HUMAN	D	66	.	ENSP00000336543:E66D	E	+	3	2	SNURF	22764259	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.955000	0.49121	0.992000	0.38840	0.563000	0.77884	GAG		0.468	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678	
SNHG14	104472715	broad.mit.edu	37	15	25327994	25327994	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25327994C>T	ENST00000546682.1	+	0	188				SNORD116-14_ENST00000383894.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCATCCTCGTCGAACTGAGGT	0.478																																					.												.	.	0			.	15						.						260.0	216.0	230.0					15																	25327994		876	1991	2867	22879087			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327994C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22879087	.		RNA	SNP	ENST00000546682.1	37																																																																																					0.478	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25339260	25339260	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25339260C>T	ENST00000546682.1	+	0	1110				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCGTCATCTTCGTTGAACTGA	0.433																																					.												.	.	0			.	15						.						210.0	185.0	192.0					15																	25339260		876	1991	2867	22890353			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339260C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22890353	.		RNA	SNP	ENST00000546682.1	37																																																																																					0.433	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25346798	25346798	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25346798C>A	ENST00000546682.1	+	0	1475				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-27_ENST00000516087.1_RNA|SNORD116-26_ENST00000516006.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTACCACTTCTGTGAGCTGA	0.428																																					.												.	.	0			.	15						.						60.0	56.0	57.0					15																	25346798		876	1991	2867	22897891			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25346798C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22897891	.		RNA	SNP	ENST00000546682.1	37																																																																																					0.428	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25442772	25442772	+	RNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25442772A>G	ENST00000424208.1	+	0	1636				SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGACTTAAAAATCATGCTC	0.488																																					.												.	.	0			.	15						.						467.0	466.0	466.0					15																	25442772		876	1991	2867	22993865			347745	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442772A>G		Somatic		Capture	Illumina HiSeq	Phase_I	22993865	.		RNA	SNP	ENST00000424208.1	37																																																																																					0.488	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2		
SNHG14	104472715	broad.mit.edu	37	15	25492545	25492545	+	RNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25492545T>C	ENST00000453082.2	+	0	5792				SNORD115-41_ENST00000363608.1_RNA|SNORD115-43_ENST00000365503.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GACTTAAAAATCATGCTCAAT	0.498																																					.												.	.	0			.	15						.						404.0	399.0	400.0					15																	25492545		876	1989	2865	23043638			100033817	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492545T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23043638	.		5'Flank	SNP	ENST00000453082.2	37																																																																																					0.498	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2		
UBE3A	7337	broad.mit.edu	37	15	25602050	25602050	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25602050G>T	ENST00000397954.2	-	6	1762				SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Intron|UBE3A_ENST00000232165.3_Intron|UBE3A_ENST00000566215.1_Intron|UBE3A_ENST00000428984.2_Intron			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A						androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATACCTATAAGAAATGATTTT	0.239																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						54.0	60.0	58.0					15																	25602050		2200	4285	6485	23153143	SO:0001627	intron_variant	7337	.			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1763-7C>A	15.37:g.25602050G>T		Somatic		Capture	Illumina HiSeq	Phase_I	23153143	.	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Intron	SNP	ENST00000397954.2	37	CCDS45192.1																																																																																				0.239	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBE3A	7337	broad.mit.edu	37	15	25620762	25620762	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25620762C>T	ENST00000397954.2	-	3	219	c.220G>A	c.(220-222)Gag>Aag	p.E74K	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.E51K|UBE3A_ENST00000232165.3_Missense_Mutation_p.E71K|UBE3A_ENST00000566215.1_Missense_Mutation_p.E51K|UBE3A_ENST00000428984.2_Missense_Mutation_p.E51K			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	74					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.E74K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTATAAAGCTCGAGGGCTTTA	0.448																																					p.E74K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	15						.						85.0	88.0	87.0					15																	25620762		2203	4300	6503	23171855	SO:0001583	missense	7337	exon3			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.220G>A	15.37:g.25620762C>T	ENSP00000381045:p.Glu74Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23171855	NM_000462	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234780	0.79800	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	.	0.104700	0.64402	D	0.000001	T	0.55625	0.1932	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.97	P;B	0.53006	0.715;0.241	T	0.46190	-0.9209	10	0.32370	T	0.25	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	71;74	Q05086-3;Q05086	.;UBE3A_HUMAN	K	71;71;74;51;51	ENSP00000232165:E71K;ENSP00000381045:E74K;ENSP00000411258:E51K;ENSP00000401265:E51K	ENSP00000232165:E71K	E	-	1	0	UBE3A	23171855	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.776000	0.85560	2.835000	0.97688	0.591000	0.81541	GAG		0.448	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
ATP10A	57194	broad.mit.edu	37	15	25958916	25958916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25958916G>T	ENST00000356865.6	-	10	2360	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	750					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S750*(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCACCACTGACATCCTCTT	0.602																																					p.S750X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2249A	15						.						82.0	76.0	78.0					15																	25958916		2203	4300	6503	23510009	SO:0001587	stop_gained	57194	exon10			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2249C>A	15.37:g.25958916G>T	ENSP00000349325:p.Ser750*	Somatic		Capture	Illumina HiSeq	Phase_I	23510009	NM_024490	Q4G0S9|Q969I4	Nonsense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	41	8.773013	0.98948	.	.	ENSG00000206190	ENST00000356865	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9155	17.5382	0.87840	0.0:0.0:1.0:0.0	.	.	.	.	X	750	.	ENSP00000349325:S750X	S	-	2	0	ATP10A	23510009	1.000000	0.71417	0.970000	0.41538	0.891000	0.51852	9.421000	0.97455	2.226000	0.72624	0.555000	0.69702	TCA		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ATP10A	57194	broad.mit.edu	37	15	25971098	25971098	+	Splice_Site	SNP	C	C	T	rs148331114		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:25971098C>T	ENST00000356865.6	-	5	1090	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	327					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G327R(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGACTTACCGACTGCTGAA	0.587																																					p.G327R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	15						.	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	105.0	86.0	93.0		979	5.7	1.0	15	dbSNP_134	93	0,8600		0,0,4300	no	missense-near-splice	ATP10A	NM_024490.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	327/1500	25971098	1,13005	2203	4300	6503	23522191	SO:0001630	splice_region_variant	57194	exon5			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.979+1G>A	15.37:g.25971098C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23522191	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712911	0.89112	2.27E-4	0.0	ENSG00000206190	ENST00000356865	T	0.46819	0.86	5.7	5.7	0.88788	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85367	0.1111	9	.	.	.	-23.3001	19.8339	0.96646	0.0:1.0:0.0:0.0	.	327	O60312	AT10A_HUMAN	R	327	ENSP00000349325:G327R	.	G	-	1	0	ATP10A	23522191	1.000000	0.71417	0.980000	0.43619	0.506000	0.33950	7.565000	0.82337	2.700000	0.92200	0.563000	0.77884	GGA		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	Missense_Mutation
ATP10A	57194	broad.mit.edu	37	15	26026361	26026361	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:26026361C>T	ENST00000356865.6	-	2	570	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	153					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K153K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACGTATTTCTTTTCTTCCC	0.478																																					p.K153K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G459A	15						.						74.0	75.0	75.0					15																	26026361		2203	4300	6503	23577454	SO:0001819	synonymous_variant	57194	exon2			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.459G>A	15.37:g.26026361C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23577454	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.478	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
GABRA5	2558	broad.mit.edu	37	15	27128535	27128535	+	Missense_Mutation	SNP	C	C	T	rs375985106		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:27128535C>T	ENST00000335625.5	+	6	1216	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110W|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110W	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R110W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGAAAGGCTTCGGTTTAAGGG	0.567																																					p.R110W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328T	15						.						107.0	117.0	114.0					15																	27128535		2109	4256	6365	24679628	SO:0001583	missense	2558	exon6				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.328C>T	15.37:g.27128535C>T	ENSP00000335592:p.Arg110Trp	Somatic		Capture	Illumina HiSeq	Phase_I	24679628	NM_001165037	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661187	0.67700	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.4	4.42	0.53409	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	D	0.000002	D	0.83538	0.5276	M	0.71206	2.165	0.39289	D	0.964709	D	0.56968	0.978	P	0.51453	0.67	D	0.86510	0.1809	10	0.87932	D	0	.	12.4257	0.55544	0.2855:0.7145:0.0:0.0	.	110	P31644	GBRA5_HUMAN	W	110;110;78;110;110;110;78	ENSP00000335592:R110W;ENSP00000347557:R110W;ENSP00000450653:R78W;ENSP00000382953:R110W;ENSP00000450806:R110W;ENSP00000450717:R110W;ENSP00000450529:R78W	ENSP00000335592:R110W	R	+	1	2	GABRA5	24679628	0.029000	0.19370	0.919000	0.36401	0.638000	0.38207	1.191000	0.32138	2.695000	0.91970	0.561000	0.74099	CGG		0.567	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
OCA2	4948	broad.mit.edu	37	15	28263710	28263710	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:28263710G>T	ENST00000354638.3	-	7	802				OCA2_ENST00000382996.2_Intron|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACGGCTCGGAGAGTGTCAAGG	0.632									Oculocutaneous Albinism																												.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						23.0	19.0	20.0					15																	28263710		2203	4300	6503	25937305	SO:0001627	intron_variant	4948	.	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.647-7C>A	15.37:g.28263710G>T		Somatic		Capture	Illumina HiSeq	Phase_I	25937305	.	Q15211|Q15212|Q96EN1|Q9UMI5	Intron	SNP	ENST00000354638.3	37	CCDS10020.1																																																																																				0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
OCA2	4948	broad.mit.edu	37	15	28270046	28270046	+	Missense_Mutation	SNP	C	C	T	rs368907318		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:28270046C>T	ENST00000354638.3	-	5	673	c.518G>A	c.(517-519)cGc>cAc	p.R173H	OCA2_ENST00000382996.2_Missense_Mutation_p.R173H|OCA2_ENST00000353809.5_Missense_Mutation_p.R173H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	173					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.R173H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCACACAGCGCCTGCAAGA	0.532									Oculocutaneous Albinism																												p.R173H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	15						.	C	HIS/ARG	0,4406		0,0,2203	131.0	109.0	117.0		518	4.7	0.8	15		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	OCA2	NM_000275.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	173/839	28270046	1,13005	2203	4300	6503	25943641	SO:0001583	missense	4948	exon5	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.518G>A	15.37:g.28270046C>T	ENSP00000346659:p.Arg173His	Somatic		Capture	Illumina HiSeq	Phase_I	25943641	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	2.600	-0.293278	0.05568	0.0	1.16E-4	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	T;T;T;D;T	0.92805	-0.01;-0.01;-0.01;-3.11;-0.01	5.61	4.7	0.59300	.	0.628799	0.17840	N	0.160245	D	0.82351	0.5018	N	0.12182	0.205	0.23700	N	0.997073	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.66296	-0.5959	10	0.15066	T	0.55	-0.2246	10.5712	0.45202	0.0:0.9114:0.0:0.0886	.	173;173	Q04671-2;Q04671	.;P_HUMAN	H	173	ENSP00000346659:R173H;ENSP00000261276:R173H;ENSP00000372457:R173H;ENSP00000414425:R173H;ENSP00000415431:R173H	ENSP00000261276:R173H	R	-	2	0	OCA2	25943641	0.972000	0.33761	0.768000	0.31515	0.095000	0.18619	2.088000	0.41663	1.376000	0.46267	-0.145000	0.13849	CGC		0.532	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
HERC2	8924	broad.mit.edu	37	15	28446658	28446658	+	Nonsense_Mutation	SNP	G	G	A	rs146159039	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:28446658G>A	ENST00000261609.7	-	48	7768	c.7660C>T	c.(7660-7662)Cga>Tga	p.R2554*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2554*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATCAGCTCGTTTTTTGTAC	0.378																																					p.R2554X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7660T	15						.						132.0	121.0	125.0					15																	28446658		2203	4300	6503	26120253	SO:0001587	stop_gained	8924	exon48			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7660C>T	15.37:g.28446658G>A	ENSP00000261609:p.Arg2554*	Somatic		Capture	Illumina HiSeq	Phase_I	26120253	NM_004667		Nonsense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	49	15.556258	0.99838	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	3.14	0.36123	.	0.070124	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7517	0.57312	0.0:0.0:0.5815:0.4185	.	.	.	.	X	2554	.	ENSP00000261609:R2554X	R	-	1	2	HERC2	26120253	1.000000	0.71417	0.840000	0.33206	0.881000	0.50899	2.491000	0.45303	1.296000	0.44742	0.561000	0.74099	CGA		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28508136	28508136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:28508136C>A	ENST00000261609.7	-	15	2158	c.2050G>T	c.(2050-2052)Ggt>Tgt	p.G684C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G684C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGTTGTCACCTTTTCCCCAT	0.418																																					p.G684C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2050T	15						.						142.0	135.0	138.0					15																	28508136		2203	4300	6503	26181731	SO:0001583	missense	8924	exon15			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2050G>T	15.37:g.28508136C>A	ENSP00000261609:p.Gly684Cys	Somatic		Capture	Illumina HiSeq	Phase_I	26181731	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187385	0.94923	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.79	5.79	0.91817	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053391	0.64402	D	0.000001	D	0.96156	0.8747	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96442	0.9327	10	0.87932	D	0	.	20.1179	0.97943	0.0:1.0:0.0:0.0	.	684	O95714	HERC2_HUMAN	C	684	ENSP00000261609:G684C	ENSP00000261609:G684C	G	-	1	0	HERC2	26181731	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.807000	0.86032	2.759000	0.94783	0.558000	0.71614	GGT		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28519445	28519445	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:28519445G>A	ENST00000261609.7	-	7	900	c.792C>T	c.(790-792)gtC>gtT	p.V264V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V264V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCCCGTCACGACGGACCTGA	0.587																																					p.V264V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	15						.						74.0	62.0	66.0					15																	28519445		2203	4300	6503	26193040	SO:0001819	synonymous_variant	8924	exon7			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.792C>T	15.37:g.28519445G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26193040	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.587	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
MTMR10	54893	broad.mit.edu	37	15	31251273	31251273	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:31251273C>A	ENST00000435680.1	-	8	907	c.810G>T	c.(808-810)aaG>aaT	p.K270N	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Missense_Mutation_p.K22N|MTMR10_ENST00000563714.1_Missense_Mutation_p.K188N|RNU6-466P_ENST00000391224.1_RNA	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	270	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.K270N(1)|p.K188N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGGAAAAGATCTTTAGATCTT	0.388																																					p.K270N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G810T	15						.						66.0	61.0	63.0					15																	31251273		1862	4103	5965	29038565	SO:0001583	missense	54893	exon8			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.810G>T	15.37:g.31251273C>A	ENSP00000402537:p.Lys270Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29038565	NM_017762	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422018	0.62622	.	.	ENSG00000166912	ENST00000435680;ENST00000314404;ENST00000340566	D;D	0.93307	-3.2;-3.2	4.94	4.02	0.46733	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	M	0.69823	2.125	0.80722	D	1	P;D;D;D	0.71674	0.899;0.998;0.998;0.998	P;P;D;D	0.65874	0.698;0.898;0.939;0.924	D	0.94349	0.7577	10	0.35671	T	0.21	.	13.4974	0.61434	0.0:0.9242:0.0:0.0758	.	39;188;188;270	Q0IJ45;Q9NXD2-2;A6NGL9;Q9NXD2	.;.;.;MTMRA_HUMAN	N	270;22;188	ENSP00000402537:K270N;ENSP00000313788:K22N	ENSP00000313788:K22N	K	-	3	2	MTMR10	29038565	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.818000	0.55678	1.201000	0.43203	0.655000	0.94253	AAG		0.388	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762	
TRPM1	4308	broad.mit.edu	37	15	31294254	31294254	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:31294254C>A	ENST00000256552.6	-	28	4796	c.4649G>T	c.(4648-4650)aGa>aTa	p.R1550I	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1528I|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1567I|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1528I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATCCCATTTCTGTCAGTAAT	0.433																																					p.R1528I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4583T	15						.						240.0	219.0	226.0					15																	31294254		1938	4148	6086	29081546	SO:0001583	missense	4308	exon27			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4649G>T	15.37:g.31294254C>A	ENSP00000256552:p.Arg1550Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29081546	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878810	0.33162	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52754	0.67;0.65;0.68	4.87	2.96	0.34315	.	0.265027	0.29100	N	0.013160	T	0.34337	0.0894	L	0.29908	0.895	0.22896	N	0.998598	B;B	0.20550	0.046;0.027	B;B	0.22753	0.041;0.027	T	0.35500	-0.9786	10	0.87932	D	0	-16.5745	9.1646	0.37043	0.0:0.7547:0.0:0.2453	.	1522;1528	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1528;1567;1550;1528	ENSP00000380897:R1528I;ENSP00000437849:R1567I;ENSP00000256552:R1550I	ENSP00000256552:R1550I	R	-	2	0	TRPM1	29081546	0.138000	0.22547	0.028000	0.17463	0.248000	0.25809	0.722000	0.25925	1.173000	0.42796	0.563000	0.77884	AGA		0.433	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31330015	31330015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:31330015C>T	ENST00000256552.6	-	20	2617	c.2470G>A	c.(2470-2472)Ggg>Agg	p.G824R	TRPM1_ENST00000397795.2_Missense_Mutation_p.G802R|TRPM1_ENST00000542188.1_Missense_Mutation_p.G841R|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.G802R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCTCATCCCCCTTTCTTGAG	0.478																																					p.G802R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2404A	15						.						158.0	141.0	146.0					15																	31330015		1991	4187	6178	29117307	SO:0001583	missense	4308	exon19			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2470G>A	15.37:g.31330015C>T	ENSP00000256552:p.Gly824Arg	Somatic		Capture	Illumina HiSeq	Phase_I	29117307	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829145	0.90955	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.83075	-1.68;-1.68;-1.68	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	L	0.60455	1.87	0.80722	D	1	B;B	0.33299	0.407;0.284	B;B	0.37144	0.242;0.122	T	0.82544	-0.0404	10	0.44086	T	0.13	-29.6341	18.4281	0.90615	0.0:1.0:0.0:0.0	.	796;802	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	802;841;824;802	ENSP00000380897:G802R;ENSP00000437849:G841R;ENSP00000256552:G824R	ENSP00000256552:G824R	G	-	1	0	TRPM1	29117307	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.445000	0.80570	2.420000	0.82092	0.655000	0.94253	GGG		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31359401	31359401	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:31359401C>T	ENST00000256552.6	-	6	641				TRPM1_ENST00000397795.2_Intron|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Intron	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGTGAGCAGCCATTGGTCAT	0.502																																					.												.	.	0			.	15						.						101.0	100.0	101.0					15																	31359401		1917	4122	6039	29146693	SO:0001627	intron_variant	4308	.			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.494-11G>A	15.37:g.31359401C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29146693	.		Intron	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.502	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
ARHGAP11A	9824	broad.mit.edu	37	15	32915738	32915738	+	Silent	SNP	C	C	T	rs140578993		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:32915738C>T	ENST00000361627.3	+	3	968	c.246C>T	c.(244-246)acC>acT	p.T82T	ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Silent_p.T82T|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000563864.1_Silent_p.T82T	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	82	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T82T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATATTCATACCGAAGGGCTTT	0.373													c|||	1	0.000199681	0.0	0.0	5008	,	,		17462	0.001		0.0	False		,,,				2504	0.0				p.T82T	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	15						.						130.0	128.0	128.0					15																	32915738		2201	4300	6501	30703030	SO:0001819	synonymous_variant	9824	exon3			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.246C>T	15.37:g.32915738C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30703030	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	CCDS10028.1																																																																																				0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
FMN1	342184	broad.mit.edu	37	15	33091020	33091020	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:33091020T>G	ENST00000559047.1	-	16	4114	c.4115A>C	c.(4114-4116)aAc>aCc	p.N1372T	FMN1_ENST00000334528.9_Missense_Mutation_p.N1149T|FMN1_ENST00000561249.1_Missense_Mutation_p.N1274T			Q68DA7	FMN1_HUMAN	formin 1	1372	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N1372T(1)|p.N1149T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTAGATATGTTTTTACTCTC	0.403																																					p.N1149T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3446C	15						.						126.0	113.0	117.0					15																	33091020		1834	4090	5924	30878312	SO:0001583	missense	342184	exon15			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4115A>C	15.37:g.33091020T>G	ENSP00000454047:p.Asn1372Thr	Somatic		Capture	Illumina HiSeq	Phase_I	30878312	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	T	3.258	-0.151752	0.06585	.	.	ENSG00000248905	ENST00000334528	T	0.62364	0.03	6.08	4.96	0.65561	.	0.437110	0.28612	N	0.014731	T	0.35335	0.0928	N	0.11560	0.145	.	.	.	B	0.24882	0.113	B	0.27262	0.078	T	0.35226	-0.9797	9	0.10902	T	0.67	.	3.4998	0.07669	0.1305:0.0753:0.1489:0.6452	.	1149	Q68DA7-5	.	T	1149	ENSP00000333950:N1149T	ENSP00000333950:N1149T	N	-	2	0	FMN1	30878312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.789000	0.26886	1.115000	0.41800	0.533000	0.62120	AAC		0.403	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	34023816	34023816	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34023816A>C	ENST00000389232.4	+	48	7415	c.7345A>C	c.(7345-7347)Ata>Cta	p.I2449L	RYR3_ENST00000415757.3_Missense_Mutation_p.I2449L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2449	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.I2449L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTGCAGACAATATACAGGCT	0.463																																					p.I2449L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7345C	15						.						94.0	88.0	90.0					15																	34023816		1997	4191	6188	31811108	SO:0001583	missense	6263	exon48				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7345A>C	15.37:g.34023816A>C	ENSP00000373884:p.Ile2449Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31811108	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044833	0.93685	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;T	0.96396	-4.0;0.44	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.67953	2.075	0.58432	D	0.999998	P;P	0.46064	0.872;0.768	P;P	0.55087	0.768;0.474	D	0.97629	1.0141	10	0.72032	D	0.01	.	15.566	0.76294	1.0:0.0:0.0:0.0	.	2449;2449	Q15413-2;Q15413	.;RYR3_HUMAN	L	2449	ENSP00000373884:I2449L;ENSP00000399610:I2449L	ENSP00000354735:I2449L	I	+	1	0	RYR3	31811108	1.000000	0.71417	0.992000	0.48379	0.944000	0.59088	7.237000	0.78164	2.254000	0.74563	0.533000	0.62120	ATA		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34118896	34118896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34118896G>A	ENST00000389232.4	+	84	11258	c.11188G>A	c.(11188-11190)Gag>Aag	p.E3730K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3725K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3730					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E3729K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAGAATGACGAGTTCACGCG	0.423																																					p.E3730K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11188A	15						.						170.0	162.0	165.0					15																	34118896		1944	4141	6085	31906188	SO:0001583	missense	6263	exon84				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11188G>A	15.37:g.34118896G>A	ENSP00000373884:p.Glu3730Lys	Somatic		Capture	Illumina HiSeq	Phase_I	31906188	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604681	0.87157	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.94931	-3.56	5.15	5.15	0.70609	RyR/IP3R Homology associated domain (1);	0.065080	0.64402	D	0.000011	D	0.95020	0.8388	L	0.35723	1.085	0.51767	D	0.999939	P;D	0.76494	0.803;0.999	B;D	0.69142	0.209;0.962	D	0.94527	0.7732	10	0.48119	T	0.1	.	14.4316	0.67254	0.0:0.147:0.853:0.0	.	3725;3730	Q15413-2;Q15413	.;RYR3_HUMAN	K	3730;3729;3726	ENSP00000373884:E3730K	ENSP00000354735:E3726K	E	+	1	0	RYR3	31906188	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	7.257000	0.78362	2.677000	0.91161	0.650000	0.86243	GAG		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
SLC12A6	9990	broad.mit.edu	37	15	34551142	34551142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34551142C>A	ENST00000354181.3	-	5	907	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E80*|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E80*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E139*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E124*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E88*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E139*|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E130*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	139					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E88*(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGTCCATTTCTTCCTATAAA	0.393																																					p.E124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G370T	15						.						120.0	112.0	115.0					15																	34551142		2201	4298	6499	32338434	SO:0001587	stop_gained	9990	exon3			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.415G>T	15.37:g.34551142C>A	ENSP00000346112:p.Glu139*	Somatic		Capture	Illumina HiSeq	Phase_I	32338434	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572070	0.96553	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	.	.	.	4.82	4.82	0.62117	.	0.065101	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8355	0.85956	0.0:1.0:0.0:0.0	.	.	.	.	X	88;124;130;80;80	.	ENSP00000290209:E88X	E	-	1	0	SLC12A6	32338434	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.508000	0.84585	0.655000	0.94253	GAA		0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
SLC12A6	9990	broad.mit.edu	37	15	34628811	34628811	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34628811T>G	ENST00000354181.3	-	2	563	c.71A>C	c.(70-72)gAc>gCc	p.D24A	SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D24A|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D24A|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D24A|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D15A			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	24					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.D15A(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACCTGGAATGTCATCGATCTT	0.483																																					p.D24A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A71C	15						.						71.0	75.0	74.0					15																	34628811		2091	4236	6327	32416103	SO:0001583	missense	9990	exon1			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.71A>C	15.37:g.34628811T>G	ENSP00000346112:p.Asp24Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32416103	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.909845	0.52439	.	.	ENSG00000140199	ENST00000397707;ENST00000354181	D	0.85013	-1.93	4.75	4.75	0.60458	.	0.137269	0.45361	D	0.000368	T	0.70176	0.3194	N	0.08118	0	0.80722	D	1	P;P	0.40970	0.72;0.734	B;B	0.35353	0.201;0.099	T	0.76462	-0.2950	10	0.59425	D	0.04	.	13.3689	0.60701	0.0:0.0:0.0:1.0	.	24;24	Q9UHW9-3;Q9UHW9	.;S12A6_HUMAN	A	24;15	ENSP00000380819:D24A	ENSP00000346112:D15A	D	-	2	0	SLC12A6	32416103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.214000	0.72200	1.985000	0.57927	0.460000	0.39030	GAC		0.483	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
NUTM1	256646	broad.mit.edu	37	15	34640334	34640334	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34640334C>T	ENST00000333756.4	+	2	336	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	NUTM1_ENST00000537011.1_Silent_p.L89L|NUTM1_ENST00000438749.3_Silent_p.L79L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	61	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L61L(1)									AGACAACCCTCTGATGCTCTC	0.582																																					p.L61L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C181T	15						.						134.0	129.0	130.0					15																	34640334		2201	4298	6499	32427626	SO:0001819	synonymous_variant	256646	exon2			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.181C>T	15.37:g.34640334C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32427626	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
LPCAT4	254531	broad.mit.edu	37	15	34656519	34656519	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:34656519A>G	ENST00000314891.6	-	4	656				LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4						cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGGGGTTGGGAAGGATACAAA	0.532																																					.												.	.	0			.	15						.						57.0	57.0	57.0					15																	34656519		2201	4298	6499	32443811	SO:0001627	intron_variant	254531	.			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.479-12T>C	15.37:g.34656519A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32443811	.	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Intron	SNP	ENST00000314891.6	37	CCDS32191.1																																																																																				0.532	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613	
AQR	9716	broad.mit.edu	37	15	35152362	35152362	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:35152362A>C	ENST00000156471.5	-	34	4255					NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCATTCTAGAAGAAGGAAAAA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						105.0	95.0	98.0					15																	35152362		1809	4070	5879	32939654	SO:0001627	intron_variant	9716	.			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4030-6T>G	15.37:g.35152362A>C		Somatic		Capture	Illumina HiSeq	Phase_I	32939654	.	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Intron	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																				0.333	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	broad.mit.edu	37	15	35196608	35196608	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:35196608T>G	ENST00000156471.5	-	19	2155	c.1930A>C	c.(1930-1932)Aat>Cat	p.N644H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	644					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N644H(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTGCTCCATTTTGTATAGTA	0.348																																					p.N644H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1930C	15						.						104.0	96.0	98.0					15																	35196608		1806	4066	5872	32983900	SO:0001583	missense	9716	exon19			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1930A>C	15.37:g.35196608T>G	ENSP00000156471:p.Asn644His	Somatic		Capture	Illumina HiSeq	Phase_I	32983900	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793355	0.31685	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93712	-3.27	5.26	4.11	0.48088	.	0.213014	0.56097	N	0.000025	D	0.89139	0.6630	L	0.40543	1.245	0.32252	N	0.571284	B	0.02656	0.0	B	0.06405	0.002	D	0.86135	0.1577	10	0.36615	T	0.2	-14.0059	12.4537	0.55691	0.0:0.0:0.1404:0.8596	.	644	O60306	AQR_HUMAN	H	644	ENSP00000156471:N644H	ENSP00000156471:N644H	N	-	1	0	AQR	32983900	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.878000	0.69682	0.920000	0.36970	0.533000	0.62120	AAT		0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
ZNF770	54989	broad.mit.edu	37	15	35273732	35273732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:35273732C>T	ENST00000356321.4	-	3	2248	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	635					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R635Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGATGGAGATCGGAAACTTTT	0.423																																					p.R635Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904A	15						.						145.0	134.0	138.0					15																	35273732		2201	4298	6499	33061024	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1904G>A	15.37:g.35273732C>T	ENSP00000348673:p.Arg635Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33061024	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851853	0.51270	.	.	ENSG00000198146	ENST00000356321	T	0.29142	1.58	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.378221	0.24016	N	0.042340	T	0.25195	0.0612	L	0.35854	1.095	0.22457	N	0.999086	D	0.58268	0.982	P	0.47786	0.557	T	0.34153	-0.9840	10	0.44086	T	0.13	-10.5413	2.9886	0.05975	0.1743:0.5416:0.1677:0.1164	.	635	Q6IQ21	ZN770_HUMAN	Q	635	ENSP00000348673:R635Q	ENSP00000348673:R635Q	R	-	2	0	ZNF770	33061024	0.939000	0.31865	1.000000	0.80357	0.990000	0.78478	1.466000	0.35310	2.750000	0.94351	0.563000	0.77884	CGA		0.423	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
ZNF770	54989	broad.mit.edu	37	15	35274315	35274315	+	Missense_Mutation	SNP	A	A	G	rs375299960		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:35274315A>G	ENST00000356321.4	-	3	1665	c.1321T>C	c.(1321-1323)Tca>Cca	p.S441P		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	441					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S441P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCACAGATTGACAAGTCTTTC	0.343																																					p.S441P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1321C	15						.						84.0	86.0	86.0					15																	35274315		2201	4298	6499	33061607	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1321T>C	15.37:g.35274315A>G	ENSP00000348673:p.Ser441Pro	Somatic		Capture	Illumina HiSeq	Phase_I	33061607	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.597578	0.00857	.	.	ENSG00000198146	ENST00000356321	T	0.10005	2.92	5.17	-4.74	0.03249	.	0.923336	0.08991	N	0.864442	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	10	0.36615	T	0.2	-0.6704	3.0846	0.06273	0.3559:0.303:0.2555:0.0856	.	441	Q6IQ21	ZN770_HUMAN	P	441	ENSP00000348673:S441P	ENSP00000348673:S441P	S	-	1	0	ZNF770	33061607	0.001000	0.12720	0.001000	0.08648	0.053000	0.15095	0.241000	0.18065	-0.584000	0.05913	-1.063000	0.02288	TCA		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
ZNF770	54989	broad.mit.edu	37	15	35275043	35275043	+	Missense_Mutation	SNP	C	C	T	rs148085641		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:35275043C>T	ENST00000356321.4	-	3	937	c.593G>A	c.(592-594)cGa>cAa	p.R198Q		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R198Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGTTGACTGTCGAAAAGATTT	0.343																																					p.R198Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	15						.	C	GLN/ARG	0,4402		0,0,2201	63.0	61.0	62.0		593	4.4	1.0	15	dbSNP_134	62	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF770	NM_014106.3	43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	198/692	35275043	1,12997	2201	4298	6499	33062335	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.593G>A	15.37:g.35275043C>T	ENSP00000348673:p.Arg198Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33062335	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211528	0.58343	0.0	1.16E-4	ENSG00000198146	ENST00000356321	T	0.07444	3.19	5.28	4.36	0.52297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.16300	0.0392	L	0.41710	1.295	0.25252	N	0.989663	D	0.71674	0.998	D	0.64776	0.929	T	0.03463	-1.1034	10	0.40728	T	0.16	-7.1349	9.8007	0.40761	0.1413:0.7867:0.0:0.072	.	198	Q6IQ21	ZN770_HUMAN	Q	198	ENSP00000348673:R198Q	ENSP00000348673:R198Q	R	-	2	0	ZNF770	33062335	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.697000	0.37784	1.435000	0.47434	0.655000	0.94253	CGA		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
TMCO5A	145942	broad.mit.edu	37	15	38229071	38229071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:38229071C>T	ENST00000319669.4	+	3	266	c.164C>T	c.(163-165)aCg>aTg	p.T55M	TMCO5A_ENST00000540944.1_Missense_Mutation_p.T55M|TMCO5A_ENST00000558158.1_Missense_Mutation_p.T55M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T55M	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	55						integral component of membrane (GO:0016021)		p.T55M(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ATCATTCAGACGCGGGGCCTG	0.502																																					p.T55M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C164T	15						.						81.0	78.0	79.0					15																	38229071		2200	4297	6497	36016363	SO:0001583	missense	145942	exon3			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.164C>T	15.37:g.38229071C>T	ENSP00000327234:p.Thr55Met	Somatic		Capture	Illumina HiSeq	Phase_I	36016363	NM_152453	Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	C	3.169	-0.170348	0.06461	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	-6.72	0.01755	.	0.868839	0.10135	N	0.711554	T	0.23330	0.0564	L	0.41027	1.25	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.09377	0.004;0.003	T	0.25363	-1.0134	9	0.54805	T	0.06	2.6121	0.4407	0.00485	0.2228:0.1854:0.2194:0.3723	.	55;55	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	M	55	.	ENSP00000327234:T55M	T	+	2	0	TMCO5A	36016363	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.452000	0.02385	-1.549000	0.01710	-1.648000	0.00760	ACG		0.502	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453	
SPRED1	161742	broad.mit.edu	37	15	38591651	38591651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:38591651G>A	ENST00000299084.4	+	2	970	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	37	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S37N(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTGGAGGGAGTGGACTAAGC	0.478									Legius syndrome																												p.S37N	Melanoma(196;2146 2959 7698 16532)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	15						.						129.0	115.0	119.0					15																	38591651		2200	4297	6497	36378943	SO:0001583	missense	161742	exon2	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.110G>A	15.37:g.38591651G>A	ENSP00000299084:p.Ser37Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36378943	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228755	0.79576	.	.	ENSG00000166068	ENST00000299084	D	0.98617	-5.03	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.081861	0.85682	D	0.000000	D	0.96558	0.8877	N	0.25332	0.735	0.50171	D	0.999852	B	0.18461	0.028	B	0.12156	0.007	D	0.92983	0.6408	10	0.46703	T	0.11	-11.7621	19.8868	0.96915	0.0:0.0:1.0:0.0	.	37	Q7Z699	SPRE1_HUMAN	N	37	ENSP00000299084:S37N	ENSP00000299084:S37N	S	+	2	0	SPRED1	36378943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.709000	0.92574	0.655000	0.94253	AGT		0.478	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
SPRED1	161742	broad.mit.edu	37	15	38631944	38631944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:38631944G>T	ENST00000299084.4	+	5	1290	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	144					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.E144*(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGGCAAATGAAGAGGATTC	0.388									Legius syndrome																												p.E144X	Melanoma(196;2146 2959 7698 16532)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G430T	15						.						102.0	98.0	100.0					15																	38631944		2200	4297	6497	36419236	SO:0001587	stop_gained	161742	exon5	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.430G>T	15.37:g.38631944G>T	ENSP00000299084:p.Glu144*	Somatic		Capture	Illumina HiSeq	Phase_I	36419236	NM_152594	B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164981	0.57476	.	.	ENSG00000166068	ENST00000299084	.	.	.	4.6	4.6	0.57074	.	1.158660	0.06028	N	0.652565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-22.2618	12.0109	0.53286	0.0:0.2332:0.7668:0.0	.	.	.	.	X	144	.	ENSP00000299084:E144X	E	+	1	0	SPRED1	36419236	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.141000	0.58038	2.265000	0.75225	0.585000	0.79938	GAA		0.388	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
THBS1	7057	broad.mit.edu	37	15	39881161	39881161	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:39881161T>C	ENST00000260356.5	+	11	1812	c.1647T>C	c.(1645-1647)gaT>gaC	p.D549D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	549	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.D549D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TTGTCTCAGATGGATGCCTGT	0.493																																					p.D549D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1647C	15						.						255.0	228.0	237.0					15																	39881161		2200	4297	6497	37668453	SO:0001630	splice_region_variant	7057	exon11				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1646-1T>C	15.37:g.39881161T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37668453	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	Silent
THBS1	7057	broad.mit.edu	37	15	39881531	39881531	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:39881531C>T	ENST00000260356.5	+	12	2067	c.1902C>T	c.(1900-1902)gtC>gtT	p.V634V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	634					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.V634V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCCAGGGTGTCGAACATGCCA	0.587																																					p.V634V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	15						.						63.0	66.0	65.0					15																	39881531		2200	4297	6497	37668823	SO:0001819	synonymous_variant	7057	exon12				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1902C>T	15.37:g.39881531C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37668823	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	0.405	-0.916124	0.02415	.	.	ENSG00000137801	ENST00000397593	.	.	.	5.64	-6.19	0.02078	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60601	-0.7231	5	0.87932	D	0	-12.6889	3.2663	0.06867	0.1355:0.1481:0.2445:0.472	.	.	.	.	L	68	.	ENSP00000380721:S68L	S	+	2	0	THBS1	37668823	0.005000	0.15991	0.005000	0.12908	0.015000	0.08874	-1.476000	0.02333	-0.797000	0.04450	-0.793000	0.03317	TCG		0.587	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
THBS1	7057	broad.mit.edu	37	15	39882017	39882017	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:39882017C>T	ENST00000260356.5	+	13	2103	c.1938C>T	c.(1936-1938)ccC>ccT	p.P646P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	646	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P646P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGTGCAAGCCCCGTAACCCCT	0.537																																					p.P646P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1938T	15						.						85.0	75.0	79.0					15																	39882017		2200	4297	6497	37669309	SO:0001819	synonymous_variant	7057	exon13				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1938C>T	15.37:g.39882017C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37669309	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327471	0.24080	.	.	ENSG00000137801	ENST00000397593	.	.	.	5.84	-2.52	0.06346	.	0.000000	0.35772	N	0.002991	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	6	0.87932	D	0	-20.5852	1.2066	0.01896	0.3021:0.2863:0.0869:0.3247	.	.	.	.	L	80	.	ENSP00000380721:P80L	P	+	2	0	THBS1	37669309	0.208000	0.23494	0.995000	0.50966	0.972000	0.66771	-0.415000	0.07106	-0.133000	0.11537	-0.137000	0.14449	CCC		0.537	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
BMF	90427	broad.mit.edu	37	15	40384076	40384076	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40384076T>C	ENST00000354670.4	-	5	701	c.467A>G	c.(466-468)cAa>cGa	p.Q156R	BMF_ENST00000558774.1_Silent_p.P102P|BMF_ENST00000397573.1_Missense_Mutation_p.Q156R|BMF_ENST00000220446.4_Silent_p.P102P|BMF_ENST00000561282.1_Missense_Mutation_p.Q156R|BMF_ENST00000559701.1_Silent_p.P102P|BMF_ENST00000431415.3_Missense_Mutation_p.Q135R|BMF_ENST00000561360.1_Missense_Mutation_p.Q156R|RP11-521C20.3_ENST00000559022.1_RNA	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	156					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)		p.Q156R(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACACGATTTTGGTTCTGCTG	0.493																																					p.Q156R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467G	15						.						53.0	44.0	47.0					15																	40384076		2203	4300	6503	38171368	SO:0001583	missense	90427	exon4			BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.467A>G	15.37:g.40384076T>C	ENSP00000346697:p.Gln156Arg	Somatic		Capture	Illumina HiSeq	Phase_I	38171368	NM_033503	Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Missense_Mutation	SNP	ENST00000354670.4	37	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	T	1.587	-0.530173	0.04112	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415	.	.	.	5.15	0.906	0.19314	.	0.361357	0.23023	N	0.052823	T	0.26122	0.0637	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26780	-1.0093	8	0.02654	T	1	-7.2195	9.8969	0.41324	0.0:0.701:0.0:0.299	.	156;135	Q96LC9;Q96LC9-2	BMF_HUMAN;.	R	156;156;135	.	ENSP00000346697:Q156R	Q	-	2	0	BMF	38171368	0.999000	0.42202	0.990000	0.47175	0.902000	0.53008	0.450000	0.21762	0.155000	0.19261	-1.177000	0.01723	CAA		0.493	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503	
BUB1B	701	broad.mit.edu	37	15	40494601	40494601	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40494601T>C	ENST00000287598.6	+	13	1762				BUB1B_ENST00000412359.3_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTCTCTTTCTCTAGGTCCCA	0.318			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												.		yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	.	1	Unknown(1)	large_intestine(1)	.	15						.						100.0	100.0	100.0					15																	40494601		2203	4299	6502	38281893	SO:0001627	intron_variant	701	.	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1568-5T>C	15.37:g.40494601T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38281893	.	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Intron	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																				0.318	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
CASC5	57082	broad.mit.edu	37	15	40911171	40911171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40911171C>A	ENST00000346991.5	+	10	805	c.415C>A	c.(415-417)Ctt>Att	p.L139I	CASC5_ENST00000399668.2_Missense_Mutation_p.L113I|CASC5_ENST00000527044.1_Intron			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	139	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L139I(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACACATTGCTTTCTGCTCC	0.343																																					p.L139I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C415A	15						.						160.0	152.0	155.0					15																	40911171		1859	4095	5954	38698463	SO:0001583	missense	57082	exon10			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.415C>A	15.37:g.40911171C>A	ENSP00000335463:p.Leu139Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38698463	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303856	0.81136	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.47177	0.85;0.85	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000024	T	0.67268	0.2875	M	0.66939	2.045	0.29975	N	0.818238	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.66795	-0.5833	10	0.87932	D	0	.	16.55	0.84470	0.0:1.0:0.0:0.0	.	113;139;113	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	139;113;113	ENSP00000335463:L139I;ENSP00000382576:L113I	ENSP00000260369:L113I	L	+	1	0	CASC5	38698463	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.466000	0.60148	2.651000	0.90000	0.557000	0.71058	CTT		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40913466	40913466	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40913466A>C	ENST00000346991.5	+	11	1472	c.1082A>C	c.(1081-1083)aAt>aCt	p.N361T	CASC5_ENST00000399668.2_Missense_Mutation_p.N335T|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	361	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N361T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAACAGGTAATTTTTCTGAA	0.328																																					p.N361T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1082C	15						.						60.0	56.0	57.0					15																	40913466		1823	4082	5905	38700758	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1082A>C	15.37:g.40913466A>C	ENSP00000335463:p.Asn361Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38700758	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	9.635	1.137496	0.21123	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07908	3.15;3.17	5.71	5.71	0.89125	.	0.107279	0.41712	D	0.000827	T	0.20901	0.0503	L	0.47190	1.495	0.09310	N	1	D;D;D	0.71674	0.996;0.99;0.998	P;P;D	0.81914	0.866;0.814;0.995	T	0.06338	-1.0832	10	0.40728	T	0.16	.	12.3627	0.55213	1.0:0.0:0.0:0.0	.	335;361;335	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	T	361;335;335	ENSP00000335463:N361T;ENSP00000382576:N335T	ENSP00000260369:N335T	N	+	2	0	CASC5	38700758	0.177000	0.23109	0.226000	0.23910	0.014000	0.08584	2.705000	0.47127	2.166000	0.68216	0.383000	0.25322	AAT		0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40916745	40916745	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40916745A>G	ENST00000346991.5	+	11	4751	c.4361A>G	c.(4360-4362)gAt>gGt	p.D1454G	CASC5_ENST00000399668.2_Missense_Mutation_p.D1428G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1454					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D1454G(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTCCAAAGGATCAAATGAAA	0.358																																					p.D1454G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4361G	15						.						112.0	107.0	108.0					15																	40916745		1854	4101	5955	38704037	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4361A>G	15.37:g.40916745A>G	ENSP00000335463:p.Asp1454Gly	Somatic		Capture	Illumina HiSeq	Phase_I	38704037	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	7.306	0.614004	0.14066	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05649	3.41;3.41	5.12	1.37	0.22104	.	0.273640	0.26220	N	0.025634	T	0.05593	0.0147	L	0.44542	1.39	0.09310	N	0.999998	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.31194	-0.9952	10	0.72032	D	0.01	.	4.8579	0.13568	0.532:0.3031:0.1649:0.0	.	1428;1454;1428	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	1454;1428;1428	ENSP00000335463:D1454G;ENSP00000382576:D1428G	ENSP00000260369:D1428G	D	+	2	0	CASC5	38704037	0.002000	0.14202	0.448000	0.26945	0.210000	0.24377	0.505000	0.22642	0.319000	0.23209	0.491000	0.48974	GAT		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40921506	40921506	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:40921506C>A	ENST00000346991.5	+	14	6087	c.5697C>A	c.(5695-5697)ttC>ttA	p.F1899L	CASC5_ENST00000399668.2_Missense_Mutation_p.F1873L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1899	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F1899L(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAAGGGAGTTCTTTATACTTC	0.383																																					p.F1899L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5697A	15						.						85.0	81.0	82.0					15																	40921506		1823	4074	5897	38708798	SO:0001583	missense	57082	exon14			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5697C>A	15.37:g.40921506C>A	ENSP00000335463:p.Phe1899Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38708798	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227284	0.58668	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.21191	2.02;2.02	5.56	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.62723	1.935	0.38593	D	0.950472	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.20940	-1.0260	10	0.72032	D	0.01	.	7.8413	0.29400	0.0:0.5674:0.0:0.4326	.	1873;1899	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	L	1899;1873	ENSP00000335463:F1899L;ENSP00000382576:F1873L	ENSP00000335463:F1899L	F	+	3	2	CASC5	38708798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.186000	0.32078	0.426000	0.26116	-0.147000	0.13772	TTC		0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
DNAJC17	55192	broad.mit.edu	37	15	41066622	41066622	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:41066622G>T	ENST00000220496.4	-	9	643	c.613C>A	c.(613-615)Ctc>Atc	p.L205I		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	205	RRM.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L205I(1)		endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ACCAGGTTGAGAACCTCACCA	0.577																																					p.L205I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613A	15						.						115.0	109.0	111.0					15																	41066622		2203	4300	6503	38853914	SO:0001583	missense	55192	exon9			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.613C>A	15.37:g.41066622G>T	ENSP00000220496:p.Leu205Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38853914	NM_018163		Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856919	0.71834	.	.	ENSG00000104129	ENST00000220496	T	0.18502	2.21	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.062144	0.64402	D	0.000003	T	0.25644	0.0624	M	0.62016	1.91	0.80722	D	1	P	0.41673	0.759	B	0.43990	0.438	T	0.00849	-1.1541	10	0.37606	T	0.19	.	16.6094	0.84858	0.0:0.0:1.0:0.0	.	205	Q9NVM6	DJC17_HUMAN	I	205	ENSP00000220496:L205I	ENSP00000220496:L205I	L	-	1	0	DNAJC17	38853914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.483000	0.66838	2.700000	0.92200	0.561000	0.74099	CTC		0.577	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163	
VPS18	57617	broad.mit.edu	37	15	41191388	41191388	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:41191388G>T	ENST00000220509.5	+	4	711	c.372G>T	c.(370-372)gtG>gtT	p.V124V	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	124					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.V124V(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCTCTACGTGAACCGAAATG	0.622																																					p.V124V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372T	15						.						83.0	81.0	82.0					15																	41191388		2203	4300	6503	38978680	SO:0001819	synonymous_variant	57617	exon4			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.372G>T	15.37:g.41191388G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38978680	NM_020857	Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	CCDS10069.1																																																																																				0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
INO80	54617	broad.mit.edu	37	15	41289790	41289790	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:41289790G>T	ENST00000361937.3	-	29	3931	c.3507C>A	c.(3505-3507)atC>atA	p.I1169I	RP11-540O11.6_ENST00000561388.1_RNA|INO80_ENST00000401393.3_Silent_p.I1169I|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1169	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.I1169I(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAACACAAAGATGTCATTCC	0.393																																					p.I1169I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3507A	15						.						117.0	103.0	108.0					15																	41289790		2203	4300	6503	39077082	SO:0001819	synonymous_variant	54617	exon29			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3507C>A	15.37:g.41289790G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39077082	NM_017553	A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	CCDS10071.1																																																																																				0.393	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
TYRO3	7301	broad.mit.edu	37	15	41870148	41870148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:41870148C>T	ENST00000263798.3	+	19	2571	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*	TYRO3_ENST00000559066.1_Nonsense_Mutation_p.R738*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	783	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R783*(1)|p.R775*(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TACTTGTCTGCGAATGGAACT	0.567																																					p.R783X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2347T	15						.						50.0	57.0	54.0					15																	41870148		2203	4300	6503	39657440	SO:0001587	stop_gained	7301	exon19			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2347C>T	15.37:g.41870148C>T	ENSP00000263798:p.Arg783*	Somatic		Capture	Illumina HiSeq	Phase_I	39657440	NM_006293	O14953|Q86VR3	Nonsense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502255	0.64298	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.95	5.95	0.96441	.	0.000000	0.33854	N	0.004500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4429	13.7627	0.62977	0.2682:0.7318:0.0:0.0	.	.	.	.	X	715;783	.	ENSP00000263798:R783X	R	+	1	2	TYRO3	39657440	0.991000	0.36638	1.000000	0.80357	0.890000	0.51754	1.173000	0.31920	2.824000	0.97209	0.655000	0.94253	CGA		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
MGA	23269	broad.mit.edu	37	15	41961914	41961914	+	Missense_Mutation	SNP	G	G	T	rs374032826		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:41961914G>T	ENST00000570161.1	+	1	822	c.822G>T	c.(820-822)aaG>aaT	p.K274N	MGA_ENST00000219905.7_Missense_Mutation_p.K274N|MGA_ENST00000389936.4_Missense_Mutation_p.K274N|MGA_ENST00000566586.1_Missense_Mutation_p.K274N|MGA_ENST00000545763.1_Missense_Mutation_p.K274N|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.K274N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAAACAAAAGAACAGCTCTG	0.433																																					p.K274N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G822T	15						.	G	ASN/LYS,ASN/LYS	0,3726		0,0,1863	64.0	61.0	62.0		822,822	2.9	1.0	15		62	1,8217		0,1,4108	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	94,94	0,1,5971	TT,TG,GG		0.0122,0.0,0.0084	benign,benign	274/2857,274/3066	41961914	1,11943	1863	4109	5972	39749206	SO:0001583	missense	23269	exon2			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.822G>T	15.37:g.41961914G>T	ENSP00000457035:p.Lys274Asn	Somatic		Capture	Illumina HiSeq	Phase_I	39749206	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332743	0.24167	0.0	1.22E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84223	-1.82;-1.81;-1.81	5.74	2.89	0.33648	.	3.842790	0.00166	N	0.000003	T	0.82199	0.4985	L	0.53249	1.67	0.24654	N	0.993509	B;B	0.18610	0.029;0.01	B;B	0.12837	0.008;0.007	T	0.58645	-0.7600	10	0.28530	T	0.3	.	5.7615	0.18203	0.2988:0.1677:0.5335:0.0	.	274;274	F5H7K2;E7ENI0	.;.	N	274	ENSP00000219905:K274N;ENSP00000374586:K274N;ENSP00000442467:K274N	ENSP00000219905:K274N	K	+	3	2	MGA	39749206	0.374000	0.25081	0.998000	0.56505	0.979000	0.70002	0.391000	0.20784	0.462000	0.27095	0.563000	0.77884	AAG		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MGA	23269	broad.mit.edu	37	15	42028692	42028692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42028692G>T	ENST00000570161.1	+	12	4230	c.4230G>T	c.(4228-4230)gaG>gaT	p.E1410D	MGA_ENST00000219905.7_Missense_Mutation_p.E1410D|MGA_ENST00000389936.4_Missense_Mutation_p.E1410D|MGA_ENST00000566586.1_Missense_Mutation_p.E1410D|MGA_ENST00000545763.1_Missense_Mutation_p.E1410D			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E1410D(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATGGCTGAGAAATCTGGAT	0.483																																					p.E1410D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4230T	15						.						57.0	56.0	57.0					15																	42028692		1899	4121	6020	39815984	SO:0001583	missense	23269	exon13			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4230G>T	15.37:g.42028692G>T	ENSP00000457035:p.Glu1410Asp	Somatic		Capture	Illumina HiSeq	Phase_I	39815984	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647622	0.67358	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85411	-1.96;-1.98;-1.92	5.82	3.59	0.41128	.	0.863707	0.09775	N	0.757479	T	0.81616	0.4860	N	0.19112	0.55	0.25368	N	0.988726	D;D	0.58620	0.979;0.983	P;P	0.53593	0.73;0.708	T	0.70641	-0.4816	10	0.87932	D	0	.	6.9826	0.24711	0.1798:0.0:0.6719:0.1483	.	1410;1410	F5H7K2;E7ENI0	.;.	D	1410	ENSP00000219905:E1410D;ENSP00000374586:E1410D;ENSP00000442467:E1410D	ENSP00000219905:E1410D	E	+	3	2	MGA	39815984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.810000	0.47979	1.443000	0.47586	0.585000	0.79938	GAG		0.483	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MAPKBP1	23005	broad.mit.edu	37	15	42116162	42116162	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42116162C>A	ENST00000456763.2	+	30	4330	c.4134C>A	c.(4132-4134)ctC>ctA	p.L1378L	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000457542.2_Silent_p.L1372L|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.L1211L|MAPKBP1_ENST00000221214.6_Silent_p.L1255L|MAPKBP1_ENST00000514566.1_Intron	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1378								p.L1372L(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGCAGCCTCTTCCAAGGCC	0.642																																					p.L1372L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4116A	15						.						60.0	68.0	65.0					15																	42116162		2203	4300	6503	39903454	SO:0001819	synonymous_variant	23005	exon29			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4134C>A	15.37:g.42116162C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39903454	NM_014994	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	CCDS45239.1																																																																																				0.642	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
PLA2G4B	100137049	broad.mit.edu	37	15	42137931	42137931	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42137931C>A	ENST00000452633.1	+	16	1805	c.1453C>A	c.(1453-1455)Ctg>Atg	p.L485M	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.L716M|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.L485M|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.L716M|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.L716M			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	485	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.L716M(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TATGGGGCAGCTGATGAAGAG	0.597																																					p.L485M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1453A	15						.						66.0	65.0	65.0					15																	42137931		2203	4300	6503	39925223	SO:0001583	missense	8681	exon15			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1453C>A	15.37:g.42137931C>A	ENSP00000396045:p.Leu485Met	Somatic		Capture	Illumina HiSeq	Phase_I	39925223	NM_001114633	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	17.66	3.444652	0.63178	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.12	3.21	0.36854	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.438457	0.18200	N	0.148525	T	0.19366	0.0465	L	0.61036	1.89	0.31696	N	0.64129	D;B;D;D	0.89917	1.0;0.229;0.999;0.999	D;B;D;D	0.97110	1.0;0.199;0.992;0.974	T	0.04178	-1.0971	10	0.46703	T	0.11	-15.241	10.2533	0.43381	0.0:0.788:0.1356:0.0764	.	485;716;186;716	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	M	716;716;485;485	ENSP00000371886:L716M;ENSP00000342785:L716M;ENSP00000416610:L485M;ENSP00000396045:L485M	ENSP00000342785:L716M	L	+	1	2	JMJD7-PLA2G4B;PLA2G4B	39925223	0.130000	0.22417	0.999000	0.59377	0.905000	0.53344	0.366000	0.20365	0.650000	0.30769	0.491000	0.48974	CTG		0.597	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	
EHD4	30844	broad.mit.edu	37	15	42193342	42193342	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42193342G>A	ENST00000220325.4	-	6	1210	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	376					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.S376L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCTTCAGCGAGTGGAATTT	0.542																																					p.S376L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1127T	15						.						87.0	81.0	83.0					15																	42193342		2203	4299	6502	39980634	SO:0001583	missense	30844	exon6			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1127C>T	15.37:g.42193342G>A	ENSP00000220325:p.Ser376Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39980634	NM_139265	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855653	0.71834	.	.	ENSG00000103966	ENST00000220325	T	0.18810	2.19	4.99	4.99	0.66335	.	0.170039	0.53938	D	0.000052	T	0.24044	0.0582	L	0.54323	1.7	0.80722	D	1	B	0.23650	0.089	B	0.15052	0.012	T	0.02721	-1.1119	10	0.35671	T	0.21	-10.4614	18.6266	0.91342	0.0:0.0:1.0:0.0	.	376	Q9H223	EHD4_HUMAN	L	376	ENSP00000220325:S376L	ENSP00000220325:S376L	S	-	2	0	EHD4	39980634	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.594000	0.74104	2.478000	0.83669	0.543000	0.68304	TCG		0.542	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
VPS39	23339	broad.mit.edu	37	15	42465940	42465940	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42465940G>T	ENST00000348544.4	-	12	1103	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	VPS39_ENST00000318006.5_Silent_p.V357V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	368					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.V357V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTTTAGCAAAGACCTGCATGG	0.433																																					p.V357V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1071A	15						.						156.0	142.0	147.0					15																	42465940		2203	4299	6502	40253232	SO:0001819	synonymous_variant	23339	exon11			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1104C>A	15.37:g.42465940G>T		Somatic		Capture	Illumina HiSeq	Phase_I	40253232	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																				0.433	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
CAPN3	825	broad.mit.edu	37	15	42652013	42652013	+	Missense_Mutation	SNP	G	G	A	rs140660066		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42652013G>A	ENST00000397163.3	+	1	229	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.V4I|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.V4I|CAPN3_ENST00000318023.7_Missense_Mutation_p.V4I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	4			V -> I (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V4I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATGCCGACCGTCATTAGCGC	0.557																																					p.V4I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10A	15	GRCh37	CM990294	CAPN3	M	rs140660066	.	G	ILE/VAL,ILE/VAL,ILE/VAL	4,4400		0,4,2198	78.0	90.0	86.0		10,10,10	5.0	0.4	15	dbSNP_134	86	0,8596		0,0,4298	yes	missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	29,29,29	0,4,6496	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	4/822,4/816,4/730	42652013	4,12996	2202	4298	6500	40439305	SO:0001583	missense	825	exon1			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.10G>A	15.37:g.42652013G>A	ENSP00000380349:p.Val4Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40439305	NM_173087	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370819	0.42003	9.08E-4	0.0	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.88046	-2.32;-2.33;-2.21;-2.33	5.95	5.04	0.67666	.	0.271182	0.30076	U	0.010465	T	0.78997	0.4372	N	0.24115	0.695	0.23501	N	0.997548	B;B;B	0.30605	0.255;0.161;0.287	B;B;B	0.26693	0.072;0.072;0.033	T	0.72090	-0.4395	10	0.59425	D	0.04	.	13.3175	0.60415	0.0726:0.0:0.9274:0.0	.	4;4;4	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	I	4	ENSP00000380349:V4I;ENSP00000350181:V4I;ENSP00000183936:V4I;ENSP00000326281:V4I	ENSP00000326281:V4I	V	+	1	0	CAPN3	40439305	0.991000	0.36638	0.392000	0.26245	0.420000	0.31355	4.894000	0.63206	1.526000	0.49068	0.563000	0.77884	GTC		0.557	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
ZNF106	64397	broad.mit.edu	37	15	42710089	42710089	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42710089C>T	ENST00000263805.4	-	18	5835	c.5509G>A	c.(5509-5511)Gac>Aac	p.D1837N	ZNF106_ENST00000565380.1_Missense_Mutation_p.D1065N|ZNF106_ENST00000565611.1_Missense_Mutation_p.D1022N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1837					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1837N(1)									TTAGTGTGGTCGGTCAGCAAG	0.443																																					p.D1837N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5509A	15						.						128.0	118.0	121.0					15																	42710089		2203	4299	6502	40497381	SO:0001583	missense	64397	exon18			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5509G>A	15.37:g.42710089C>T	ENSP00000263805:p.Asp1837Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40497381	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829693	0.91036	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	D	0.85773	-2.03	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.151883	0.56097	D	0.000026	D	0.91195	0.7226	L	0.58583	1.82	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.974;0.996	D	0.91740	0.5403	10	0.72032	D	0.01	-18.2961	18.6894	0.91577	0.0:1.0:0.0:0.0	.	1065;1837;1065	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	N	1837;1065	ENSP00000263805:D1837N	ENSP00000263805:D1837N	D	-	1	0	ZFP106	40497381	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.481000	0.60250	2.644000	0.89710	0.563000	0.77884	GAC		0.443	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
ZNF106	64397	broad.mit.edu	37	15	42738796	42738796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42738796C>A	ENST00000263805.4	-	4	3453	c.3127G>T	c.(3127-3129)Gga>Tga	p.G1043*	ZNF106_ENST00000565380.1_Nonsense_Mutation_p.G271*|ZNF106_ENST00000565611.1_Nonsense_Mutation_p.G228*	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1043					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G1043*(1)									CCTTTTTTTCCTTTAATTTTC	0.368																																					p.G1043X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3127T	15						.						92.0	88.0	89.0					15																	42738796		2203	4298	6501	40526088	SO:0001587	stop_gained	64397	exon4			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3127G>T	15.37:g.42738796C>A	ENSP00000263805:p.Gly1043*	Somatic		Capture	Illumina HiSeq	Phase_I	40526088	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	39	7.636416	0.98403	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	5.32	5.32	0.75619	.	0.137266	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.3732	14.3981	0.67025	0.0:0.9276:0.0:0.0724	.	.	.	.	X	1043;271	.	ENSP00000263805:G1043X	G	-	1	0	ZFP106	40526088	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.098000	0.41757	2.775000	0.95449	0.655000	0.94253	GGA		0.368	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
ZNF106	64397	broad.mit.edu	37	15	42742350	42742350	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:42742350T>G	ENST00000263805.4	-	2	2377	c.2051A>C	c.(2050-2052)aAa>aCa	p.K684T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	684					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K684T(1)									TACATGAGATTTAATAGAGTC	0.448																																					p.K684T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2051C	15						.						119.0	123.0	121.0					15																	42742350		2203	4299	6502	40529642	SO:0001583	missense	64397	exon2			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2051A>C	15.37:g.42742350T>G	ENSP00000263805:p.Lys684Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40529642	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519478	0.64634	.	.	ENSG00000103994	ENST00000263805	T	0.62639	0.01	5.14	5.14	0.70334	.	0.122950	0.52532	D	0.000066	T	0.74772	0.3760	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.922	T	0.77313	-0.2634	10	0.72032	D	0.01	-25.3839	15.4012	0.74843	0.0:0.0:0.0:1.0	.	467;684	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	T	684	ENSP00000263805:K684T	ENSP00000263805:K684T	K	-	2	0	ZFP106	40529642	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	5.199000	0.65152	2.281000	0.76405	0.528000	0.53228	AAA		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
TTBK2	146057	broad.mit.edu	37	15	43038447	43038447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43038447C>A	ENST00000267890.6	-	15	3389	c.3281G>T	c.(3280-3282)aGa>aTa	p.R1094I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1094					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1094I(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GACTTTATATCTGCGTAGCCT	0.388																																					p.R1094I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3281T	15						.						48.0	44.0	45.0					15																	43038447		1806	4060	5866	40825739	SO:0001583	missense	146057	exon15			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3281G>T	15.37:g.43038447C>A	ENSP00000267890:p.Arg1094Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40825739	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081621	0.55753	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.47528	0.84	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	L	0.55481	1.735	0.80722	D	1	D;P	0.89917	1.0;0.473	D;B	0.85130	0.997;0.056	T	0.68250	-0.5458	10	0.87932	D	0	.	18.7807	0.91932	0.0:1.0:0.0:0.0	.	1025;1094	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	1094;1024;1499	ENSP00000267890:R1094I	ENSP00000263802:R1499I	R	-	2	0	TTBK2	40825739	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.190000	0.65104	2.669000	0.90835	0.655000	0.94253	AGA		0.388	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TGM5	9333	broad.mit.edu	37	15	43531055	43531055	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43531055G>A	ENST00000220420.5	-	9	1312	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	TGM5_ENST00000349114.4_Silent_p.D353D	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	435					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D435D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATCCCGCTCGTCACTCTGGA	0.537																																					p.D353D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1059T	15						.						178.0	144.0	155.0					15																	43531055		2202	4299	6501	41318347	SO:0001819	synonymous_variant	9333	exon8			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1305C>T	15.37:g.43531055G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41318347	NM_004245	O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	CCDS32212.1																																																																																				0.537	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TGM7	116179	broad.mit.edu	37	15	43571948	43571948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43571948C>T	ENST00000452443.2	-	10	1557	c.1553G>A	c.(1552-1554)aGc>aAc	p.S518N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	518					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S518N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGGGTGGGTGCTGTCTGGCAC	0.657																																					p.S518N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1553A	15						.						50.0	55.0	53.0					15																	43571948		2202	4298	6500	41359240	SO:0001583	missense	116179	exon10			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1553G>A	15.37:g.43571948C>T	ENSP00000389466:p.Ser518Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41359240	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	0.937	-0.710803	0.03230	.	.	ENSG00000159495	ENST00000452443	T	0.30714	1.52	4.36	3.43	0.39272	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.506631	0.21348	N	0.076015	T	0.23210	0.0561	L	0.39397	1.21	0.09310	N	1	B	0.23937	0.094	B	0.18871	0.023	T	0.13176	-1.0519	10	0.27785	T	0.31	-1.5429	10.5341	0.44994	0.0:0.8047:0.1953:0.0	.	518	Q96PF1	TGM7_HUMAN	N	518	ENSP00000389466:S518N	ENSP00000389466:S518N	S	-	2	0	TGM7	41359240	0.127000	0.22367	0.178000	0.23040	0.054000	0.15201	0.647000	0.24812	1.162000	0.42619	0.655000	0.94253	AGC		0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
LCMT2	9836	broad.mit.edu	37	15	43620785	43620785	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43620785G>A	ENST00000305641.5	-	1	2018	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Missense_Mutation_p.P214S	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	635					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.P635S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATGGCCATGGCACATATGTT	0.453																																					p.P635S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1903T	15						.						132.0	123.0	126.0					15																	43620785		2201	4299	6500	41408077	SO:0001583	missense	9836	exon1			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1903C>T	15.37:g.43620785G>A	ENSP00000307214:p.Pro635Ser	Somatic		Capture	Illumina HiSeq	Phase_I	41408077	NM_014793	Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911038	0.52439	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.66638	-0.22;-0.22	5.7	5.7	0.88788	Kelch-type beta propeller (1);	0.443364	0.24573	N	0.037365	T	0.56529	0.1991	L	0.49126	1.545	0.49915	D	0.999839	P	0.35272	0.493	B	0.26864	0.074	T	0.54556	-0.8276	10	0.15952	T	0.53	-27.696	15.339	0.74282	0.0:0.0:1.0:0.0	.	635	O60294	LCMT2_HUMAN	S	635;214	ENSP00000307214:P635S;ENSP00000442022:P214S	ENSP00000307214:P635S	P	-	1	0	LCMT2	41408077	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.949000	0.49074	2.703000	0.92315	0.655000	0.94253	CCA		0.453	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793	
TUBGCP4	27229	broad.mit.edu	37	15	43678511	43678511	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43678511C>T	ENST00000260383.7	+	9	1251	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R197C|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R333C			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	333					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.R333C(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GGATCGCATTCGCAGCACTGT	0.358																																					p.R333C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	15						.						97.0	86.0	90.0					15																	43678511		1924	4128	6052	41465803	SO:0001583	missense	27229	exon9			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.997C>T	15.37:g.43678511C>T	ENSP00000260383:p.Arg333Cys	Somatic		Capture	Illumina HiSeq	Phase_I	41465803	NM_014444	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	C	17.72	3.460197	0.63401	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.10099	2.91;2.91	5.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.02132	-1.1208	10	0.62326	D	0.03	-14.0448	8.1202	0.30967	0.2623:0.664:0.0:0.0737	.	333;333	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	C	333;197	ENSP00000260383:R333C;ENSP00000382387:R197C	ENSP00000260383:R333C	R	+	1	0	TUBGCP4	41465803	0.962000	0.33011	0.264000	0.24511	0.963000	0.63663	2.249000	0.43169	1.571000	0.49722	0.561000	0.74099	CGC		0.358	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
TUBGCP4	27229	broad.mit.edu	37	15	43692276	43692276	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43692276C>T	ENST00000260383.7	+	14	1710	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R485C			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	486					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.R485C(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACTGAGTGTGCGCCGGGTGCA	0.488																																					p.R485C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1453T	15						.						91.0	89.0	90.0					15																	43692276		1976	4167	6143	41479568	SO:0001583	missense	27229	exon14			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1456C>T	15.37:g.43692276C>T	ENSP00000260383:p.Arg486Cys	Somatic		Capture	Illumina HiSeq	Phase_I	41479568	NM_014444	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	C	19.62	3.861840	0.71949	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.2	5.2	0.72013	.	0.095172	0.85682	D	0.000000	T	0.75488	0.3856	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.76745	-0.2846	9	0.87932	D	0	-14.7942	18.2666	0.90054	0.0:1.0:0.0:0.0	.	486;485	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	C	485	.	ENSP00000260383:R485C	R	+	1	0	TUBGCP4	41479568	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	4.725000	0.61979	2.861000	0.98227	0.655000	0.94253	CGC		0.488	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
TP53BP1	7158	broad.mit.edu	37	15	43708558	43708558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43708558C>A	ENST00000263801.3	-	22	4975	c.4723G>T	c.(4723-4725)Gaa>Taa	p.E1575*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1530*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1580*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1580*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1575	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.E1575*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTGGCCTTCTTTTTCAATG	0.488								Other conserved DNA damage response genes																													p.E1575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4723T	15						.						170.0	148.0	155.0					15																	43708558		2201	4298	6499	41495850	SO:0001587	stop_gained	7158	exon22			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4723G>T	15.37:g.43708558C>A	ENSP00000263801:p.Glu1575*	Somatic		Capture	Illumina HiSeq	Phase_I	41495850	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	46	12.416961	0.99666	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.78	4.87	0.63330	.	0.051053	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-10.007	15.3576	0.74440	0.0:0.9327:0.0:0.0672	.	.	.	.	X	1575;1580;1530;1580	.	ENSP00000263801:E1575X	E	-	1	0	TP53BP1	41495850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	1.586000	0.49944	0.591000	0.81541	GAA		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43766966	43766966	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43766966C>A	ENST00000263801.3	-	10	1323		c.e10-1		TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.?(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGAAGAATTCCTTTATATAAA	0.378								Other conserved DNA damage response genes																													.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						61.0	65.0	63.0					15																	43766966		2201	4298	6499	41554258	SO:0001630	splice_region_variant	7158	.			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1071-1G>T	15.37:g.43766966C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41554258	.	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Splice_Site	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901187	0.52227	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	6.08	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3847	0.49778	0.0:0.9174:0.0:0.0826	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP1	41554258	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.141000	0.58038	1.591000	0.50007	-0.140000	0.14226	.		0.378	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		Intron
TP53BP1	7158	broad.mit.edu	37	15	43773132	43773132	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43773132C>A	ENST00000263801.3	-	5	697	c.445G>T	c.(445-447)Gat>Tat	p.D149Y	TP53BP1_ENST00000382039.3_Missense_Mutation_p.D154Y|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D154Y|TP53BP1_ENST00000382044.4_Missense_Mutation_p.D154Y	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	149					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.D149Y(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTGAAGTAtcttcttccttc	0.438								Other conserved DNA damage response genes																													p.D149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445T	15						.						391.0	284.0	320.0					15																	43773132		2201	4298	6499	41560424	SO:0001583	missense	7158	exon5			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.445G>T	15.37:g.43773132C>A	ENSP00000263801:p.Asp149Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	41560424	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811142	0.32053	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12569	3.51;3.51;3.51;3.51;2.67	4.9	4.9	0.64082	.	0.785958	0.11907	N	0.518039	T	0.30166	0.0756	L	0.56769	1.78	0.25974	N	0.982468	B;D;D;D	0.57257	0.004;0.979;0.978;0.978	B;P;P;P	0.57371	0.005;0.819;0.804;0.804	T	0.05818	-1.0862	10	0.72032	D	0.01	-1.777	14.2898	0.66270	0.0:1.0:0.0:0.0	.	154;149;154;154	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Y	149;154;154;154;154	ENSP00000263801:D149Y;ENSP00000371475:D154Y;ENSP00000371470:D154Y;ENSP00000393497:D154Y;ENSP00000388028:D154Y	ENSP00000263801:D149Y	D	-	1	0	TP53BP1	41560424	0.798000	0.28890	0.086000	0.20670	0.714000	0.41099	0.790000	0.26900	2.657000	0.90304	0.467000	0.42956	GAT		0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
MAP1A	4130	broad.mit.edu	37	15	43816468	43816468	+	Missense_Mutation	SNP	T	T	C	rs369269035		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43816468T>C	ENST00000300231.5	+	4	3247	c.2797T>C	c.(2797-2799)Tct>Cct	p.S933P	MAP1A_ENST00000399453.1_Missense_Mutation_p.S933P|MAP1A_ENST00000382031.1_Missense_Mutation_p.S1171P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	933					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.S933P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAAGGCTTGTCTGGAGAGAG	0.498																																					p.S933P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2797C	15						.	T	PRO/SER	1,3965		0,1,1982	77.0	78.0	78.0		2797	-0.8	0.0	15		78	0,8320		0,0,4160	no	missense	MAP1A	NM_002373.5	74	0,1,6142	CC,CT,TT		0.0,0.0252,0.0081	benign	933/2804	43816468	1,12285	1983	4160	6143	41603760	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2797T>C	15.37:g.43816468T>C	ENSP00000300231:p.Ser933Pro	Somatic		Capture	Illumina HiSeq	Phase_I	41603760	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.569739	0.00895	2.52E-4	0.0	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.85	4.99	-0.786	0.10946	.	.	.	.	.	T	0.00496	0.0016	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	9	0.23891	T	0.37	11.2509	1.0341	0.01544	0.1711:0.3416:0.1228:0.3644	.	933	P78559	MAP1A_HUMAN	P	1171;933;933	ENSP00000371462:S1171P;ENSP00000382380:S933P;ENSP00000300231:S933P	ENSP00000300231:S933P	S	+	1	0	MAP1A	41603760	0.004000	0.15560	0.034000	0.17996	0.007000	0.05969	0.155000	0.16362	-0.342000	0.08363	-0.242000	0.12053	TCT		0.498	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
MAP1A	4130	broad.mit.edu	37	15	43817292	43817292	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43817292G>A	ENST00000300231.5	+	4	4071	c.3621G>A	c.(3619-3621)gaG>gaA	p.E1207E	MAP1A_ENST00000399453.1_Silent_p.E1207E|MAP1A_ENST00000382031.1_Silent_p.E1445E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1207					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E1207E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCAAGGAGACCTCCCTGG	0.522																																					p.E1207E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3621A	15						.						86.0	89.0	88.0					15																	43817292		1928	4128	6056	41604584	SO:0001819	synonymous_variant	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3621G>A	15.37:g.43817292G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41604584	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.522	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
MAP1A	4130	broad.mit.edu	37	15	43819496	43819496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43819496C>T	ENST00000300231.5	+	4	6275	c.5825C>T	c.(5824-5826)gCc>gTc	p.A1942V	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1942V|MAP1A_ENST00000382031.1_Missense_Mutation_p.A2180V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1942					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.A1942V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAAAGCCATGCCACCACGGAG	0.542																																					p.A1942V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5825T	15						.						68.0	81.0	76.0					15																	43819496		2191	4275	6466	41606788	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5825C>T	15.37:g.43819496C>T	ENSP00000300231:p.Ala1942Val	Somatic		Capture	Illumina HiSeq	Phase_I	41606788	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202539	0.01581	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01414	4.92;4.92;4.92	4.88	0.586	0.17434	.	1.846500	0.03367	N	0.198395	T	0.01320	0.0043	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.46331	-0.9199	10	0.46703	T	0.11	0.5338	4.228	0.10589	0.249:0.4333:0.2432:0.0745	.	1942	P78559	MAP1A_HUMAN	V	2180;1942;1942	ENSP00000371462:A2180V;ENSP00000382380:A1942V;ENSP00000300231:A1942V	ENSP00000300231:A1942V	A	+	2	0	MAP1A	41606788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.469000	0.06648	0.257000	0.21650	-1.119000	0.02030	GCC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
PPIP5K1	9677	broad.mit.edu	37	15	43831757	43831757	+	Missense_Mutation	SNP	C	C	T	rs371469703		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:43831757C>T	ENST00000396923.3	-	29	3531	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S1137N|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S1133N|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S1112N|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S1112N|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S1113N|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S1070N|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S1070N			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1137					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.S1137N(1)		large_intestine(1)	1						TGAGGCCTGGCTGCTGTGCAT	0.517																																					p.S1112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3335A	15						.	C	ASN/SER,ASN/SER,ASN/SER,ASN/SER	0,4402		0,0,2201	98.0	89.0	92.0		3410,3335,3209,3335	3.3	1.0	15		92	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense	PPIP5K1	NM_001130858.2,NM_001130859.2,NM_001190214.1,NM_014659.5	46,46,46,46	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	1137/1434,1112/1409,1070/1407,1112/1409	43831757	1,12997	2201	4298	6499	41619049	SO:0001583	missense	9677	exon28			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3410G>A	15.37:g.43831757C>T	ENSP00000380129:p.Ser1137Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41619049	NM_001130859	O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	3.578	-0.086251	0.07097	0.0	1.16E-4	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	T;T;T;T;T;T;T;T	0.21734	1.99;2.01;2.3;2.01;1.99;1.99;1.99;2.3	5.56	3.29	0.37713	.	0.168861	0.51477	N	0.000090	T	0.05227	0.0139	N	0.00926	-1.1	0.09310	N	0.999994	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.38520	-0.9657	10	0.10377	T	0.69	-7.3267	5.5591	0.17133	0.0:0.2915:0.0:0.7085	.	1070;1137;1112	Q6PFW1-7;Q6PFW1;Q6PFW1-3	.;VIP1_HUMAN;.	N	1133;1112;1070;1112;1137;1137;1112;1137;1113;1070	ENSP00000371309:S1133N;ENSP00000353446:S1112N;ENSP00000353253:S1070N;ENSP00000334779:S1112N;ENSP00000380129:S1137N;ENSP00000400887:S1137N;ENSP00000371303:S1113N;ENSP00000308773:S1070N	ENSP00000304750:S1137N	S	-	2	0	PPIP5K1	41619049	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.199000	0.17237	0.958000	0.37956	-0.484000	0.04775	AGC		0.517	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659	
ELL3	80237	broad.mit.edu	37	15	44067964	44067964	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:44067964A>G	ENST00000319359.3	-	4	1080	c.439T>C	c.(439-441)Tct>Cct	p.S147P	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	147					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.S147P(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCTCCTTCAGAATAGCCTCCT	0.527											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S147P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T439C	15						.						154.0	135.0	141.0					15																	44067964		2198	4298	6496	41855256	SO:0001583	missense	80237	exon4			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.439T>C	15.37:g.44067964A>G	ENSP00000320346:p.Ser147Pro	Somatic	921	Capture	Illumina HiSeq	Phase_I	41855256	NM_025165	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	A	9.991	1.230694	0.22542	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.30981	1.51;1.51	5.21	-3.01	0.05463	.	1.244090	0.05743	N	0.601784	T	0.17534	0.0421	L	0.28192	0.835	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.12156	0.003;0.007;0.003	T	0.26744	-1.0094	10	0.23891	T	0.37	-39.1017	3.8633	0.09005	0.3019:0.0:0.3858:0.3123	.	147;147;101	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	P	147;177	ENSP00000320346:S147P;ENSP00000404209:S177P	ENSP00000320346:S147P	S	-	1	0	ELL3	41855256	0.324000	0.24652	0.016000	0.15963	0.533000	0.34776	0.444000	0.21661	-0.161000	0.10983	0.459000	0.35465	TCT		0.527	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165	
ELL3	80237	broad.mit.edu	37	15	44068119	44068119	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:44068119G>T	ENST00000319359.3	-	4	925	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	95					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.S95Y(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTTAGGCCCAGACCTGGAAAA	0.547											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	15						.						37.0	39.0	38.0					15																	44068119		2198	4298	6496	41855411	SO:0001583	missense	80237	exon4			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.284C>A	15.37:g.44068119G>T	ENSP00000320346:p.Ser95Tyr	Somatic	921	Capture	Illumina HiSeq	Phase_I	41855411	NM_025165	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110799	0.37242	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.33654	1.4;1.4	5.67	4.76	0.60689	.	0.110367	0.41396	D	0.000899	T	0.52757	0.1754	M	0.81682	2.555	0.34903	D	0.746718	P;P	0.52577	0.913;0.954	P;P	0.55161	0.77;0.77	T	0.67538	-0.5645	10	0.46703	T	0.11	-20.6308	10.57	0.45194	0.0884:0.0:0.9116:0.0	.	95;49	Q9HB65;B3KQ66	ELL3_HUMAN;.	Y	95;125	ENSP00000320346:S95Y;ENSP00000404209:S125Y	ENSP00000320346:S95Y	S	-	2	0	ELL3	41855411	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	4.723000	0.61965	1.408000	0.46895	-0.136000	0.14681	TCT		0.547	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165	
FRMD5	84978	broad.mit.edu	37	15	44166306	44166306	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:44166306A>C	ENST00000417257.1	-	14	1666	c.1490T>G	c.(1489-1491)tTt>tGt	p.F497C	FRMD5_ENST00000402883.1_Intron|FRMD5_ENST00000484674.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	497						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.F497C(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACTTAGAACAAACTTATTCAC	0.572																																					p.F497C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1490G	15						.						148.0	117.0	128.0					15																	44166306		2198	4298	6496	41953598	SO:0001583	missense	84978	exon14			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1490T>G	15.37:g.44166306A>C	ENSP00000403067:p.Phe497Cys	Somatic		Capture	Illumina HiSeq	Phase_I	41953598	NM_032892	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214664	0.39102	.	.	ENSG00000171877	ENST00000417257	D	0.84146	-1.81	6.03	6.03	0.97812	.	0.103416	0.64402	D	0.000003	D	0.90253	0.6952	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	D	0.89868	0.4021	10	0.45353	T	0.12	.	15.4005	0.74838	1.0:0.0:0.0:0.0	.	482;497	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	C	497	ENSP00000403067:F497C	ENSP00000403067:F497C	F	-	2	0	FRMD5	41953598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.935000	0.92923	2.302000	0.77476	0.533000	0.62120	TTT		0.572	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	
CASC4	113201	broad.mit.edu	37	15	44629966	44629966	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:44629966G>T	ENST00000345795.2	+	5	852	c.582G>T	c.(580-582)gaG>gaT	p.E194D	CASC4_ENST00000360824.3_Missense_Mutation_p.R164I|CASC4_ENST00000299957.6_Missense_Mutation_p.E194D	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	194						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E194D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AACAGCAAGAGACCCAAAAGA	0.299																																					p.E194D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G582T	15						.						41.0	43.0	42.0					15																	44629966		2197	4294	6491	42417258	SO:0001583	missense	113201	exon5			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.582G>T	15.37:g.44629966G>T	ENSP00000335063:p.Glu194Asp	Somatic		Capture	Illumina HiSeq	Phase_I	42417258	NM_177974	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	CCDS10109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.036|5.036	0.192318|0.192318	0.09599|0.09599	.|.	.|.	ENSG00000166734|ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522|ENST00000360824	D;D|.	0.83673|.	-1.75;-1.75|.	4.84|4.84	1.84|1.84	0.25277|0.25277	.|.	0.794535|.	0.11977|.	N|.	0.511192|.	T|T	0.30386|0.30386	0.0763|0.0763	L|L	0.38531|0.38531	1.155|1.155	0.19300|0.19300	N|N	0.999978|0.999978	B;B;B|.	0.11235|.	0.001;0.001;0.004|.	B;B;B|.	0.13407|.	0.003;0.004;0.009|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|6	0.21540|0.87932	T|D	0.41|0	.|.	4.4346|4.4346	0.11544|0.11544	0.1916:0.0:0.6311:0.1773|0.1916:0.0:0.6311:0.1773	.|.	194;194;194|.	Q6P4E1-2;G5E934;Q6P4E1|.	.;.;CASC4_HUMAN|.	D|I	194;194;173|164	ENSP00000299957:E194D;ENSP00000335063:E194D|.	ENSP00000299957:E194D|ENSP00000354067:R164I	E|R	+|+	3|2	2|0	CASC4|CASC4	42417258|42417258	0.017000|0.017000	0.18338|0.18338	0.125000|0.125000	0.21846|0.21846	0.013000|0.013000	0.08279|0.08279	0.052000|0.052000	0.14163|0.14163	0.632000|0.632000	0.30432|0.30432	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.299	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423	
SPG11	80208	broad.mit.edu	37	15	44892782	44892782	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:44892782T>C	ENST00000261866.7	-	21	3585	c.3569A>G	c.(3568-3570)aAa>aGa	p.K1190R	SPG11_ENST00000535302.2_Missense_Mutation_p.K1190R|SPG11_ENST00000427534.2_Missense_Mutation_p.K1190R|SPG11_ENST00000558319.1_Missense_Mutation_p.K1190R	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1190					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.K1190T(1)|p.K1190R(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TATAGCATATTTATTAACCAG	0.358																																					p.K1190R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3569G	15						.						116.0	127.0	123.0					15																	44892782		2198	4298	6496	42680074	SO:0001583	missense	80208	exon21				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3569A>G	15.37:g.44892782T>C	ENSP00000261866:p.Lys1190Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42680074	NM_001160227	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674058	0.47781	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.80738	-1.41;-1.41;-1.41	5.82	4.71	0.59529	.	0.056824	0.64402	D	0.000002	T	0.76463	0.3991	L	0.61036	1.89	0.80722	D	1	B;B;B	0.18310	0.026;0.027;0.026	B;B;B	0.18561	0.022;0.019;0.022	T	0.69932	-0.5011	10	0.29301	T	0.29	.	11.3203	0.49417	0.0:0.0713:0.0:0.9287	.	1190;1190;1190	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	R	1190	ENSP00000261866:K1190R;ENSP00000445278:K1190R;ENSP00000396110:K1190R	ENSP00000261866:K1190R	K	-	2	0	SPG11	42680074	1.000000	0.71417	0.982000	0.44146	0.942000	0.58702	3.256000	0.51492	1.037000	0.40024	0.528000	0.53228	AAA		0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
B2M	567	broad.mit.edu	37	15	45008529	45008529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45008529C>T	ENST00000558401.1	+	3	419	c.349C>T	c.(349-351)Cga>Tga	p.R117*	B2M_ENST00000544417.1_3'UTR|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Nonsense_Mutation_p.R117*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	117					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.R117*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TTTCATAGATCGAGACATGTA	0.323																																					p.R117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C349T	15						.						176.0	162.0	167.0					15																	45008529		2198	4298	6496	42795821	SO:0001587	stop_gained	567	exon3			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.349C>T	15.37:g.45008529C>T	ENSP00000452780:p.Arg117*	Somatic		Capture	Illumina HiSeq	Phase_I	42795821	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	C	8.203	0.798568	0.16397	.	.	ENSG00000166710	ENST00000349264	.	.	.	5.2	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1596	0.42844	0.3635:0.6365:0.0:0.0	.	.	.	.	X	117	.	ENSP00000340858:R117X	R	+	1	2	B2M	42795821	0.011000	0.17503	0.013000	0.15412	0.041000	0.13682	1.070000	0.30653	1.526000	0.49068	0.655000	0.94253	CGA		0.323	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
TRIM69	140691	broad.mit.edu	37	15	45059759	45059759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45059759C>T	ENST00000559390.1	+	8	2220	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F	TRIM69_ENST00000558173.1_Missense_Mutation_p.S227F|TRIM69_ENST00000329464.4_Missense_Mutation_p.S431F|TRIM69_ENST00000561043.1_Missense_Mutation_p.S194F|TRIM69_ENST00000338264.4_Missense_Mutation_p.S272F|TRIM69_ENST00000560442.1_Missense_Mutation_p.S227F|TRIM69_ENST00000558329.1_Missense_Mutation_p.S210F			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	431	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S431F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATTTGCCTTCTTTCAGTCTG	0.453																																					p.S431F	Pancreas(84;519 1450 1802 20427 34706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1292T	15						.						108.0	95.0	99.0					15																	45059759		2198	4298	6496	42847051	SO:0001583	missense	140691	exon7			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1292C>T	15.37:g.45059759C>T	ENSP00000453177:p.Ser431Phe	Somatic		Capture	Illumina HiSeq	Phase_I	42847051	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271663	0.40194	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.69806	-0.43;-0.43	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.093056	0.47455	D	0.000224	T	0.76807	0.4039	L	0.47078	1.49	0.37898	D	0.930938	D;D;D	0.71674	0.962;0.984;0.998	P;D;D	0.71184	0.807;0.934;0.972	T	0.80439	-0.1382	10	0.66056	D	0.02	.	16.615	0.84904	0.0:1.0:0.0:0.0	.	210;272;431	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	F	431;272	ENSP00000332284:S431F;ENSP00000342922:S272F	ENSP00000332284:S431F	S	+	2	0	TRIM69	42847051	0.000000	0.05858	0.991000	0.47740	0.974000	0.67602	0.440000	0.21592	2.593000	0.87608	0.655000	0.94253	TCT		0.453	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
DUOX2	50506	broad.mit.edu	37	15	45396172	45396172	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45396172G>T	ENST00000603300.1	-	20	2842	c.2640C>A	c.(2638-2640)ttC>ttA	p.F880L	DUOX2_ENST00000389039.6_Missense_Mutation_p.F880L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	880	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.F880L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCATGGTGAAGAATTCGTCCT	0.488																																					p.F880L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2640A	15						.						149.0	129.0	135.0					15																	45396172		2198	4298	6496	43183464	SO:0001583	missense	50506	exon20			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2640C>A	15.37:g.45396172G>T	ENSP00000475084:p.Phe880Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43183464	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343544	0.61073	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.23	4.31	0.51392	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.16016	0.355	0.53688	D	0.999978	P;P	0.50710	0.84;0.938	P;P	0.60415	0.823;0.874	T	0.32402	-0.9908	9	0.13470	T	0.59	-22.8733	9.0256	0.36227	0.2327:0.0:0.7673:0.0	.	880;442	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	880	.	ENSP00000373691:F880L	F	-	3	2	DUOX2	43183464	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.491000	0.35583	1.318000	0.45170	0.563000	0.77884	TTC		0.488	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
DUOXA2	405753	broad.mit.edu	37	15	45408413	45408413	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45408413C>T	ENST00000323030.5	+	3	582	c.297C>T	c.(295-297)gtC>gtT	p.V99V	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	99					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)		p.V99V(1)					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)		CAGCCCGTGTCCGTCTGCTCG	0.567																																					p.V99V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	15						.						127.0	119.0	121.0					15																	45408413		1996	4145	6141	43195705	SO:0001819	synonymous_variant	405753	exon3			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.297C>T	15.37:g.45408413C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43195705	NM_207581	B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	CCDS10118.2																																																																																				0.567	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
DUOXA2	405753	broad.mit.edu	37	15	45410263	45410263	+	3'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45410263G>A	ENST00000323030.5	+	0	1404				DUOXA1_ENST00000267803.4_Silent_p.R332R|DUOXA1_ENST00000559014.1_Silent_p.R332R|DUOXA1_ENST00000430224.2_Silent_p.R287R|DUOXA1_ENST00000558996.1_3'UTR	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						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)		p.R332R(1)					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)		GTCTCCTGGGGCGATCTGTAA	0.557											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R332R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	15						.						14.0	16.0	15.0					15																	45410263		2120	4171	6291	43197555	SO:0001624	3_prime_UTR_variant	90527	exon10			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.*156G>A	15.37:g.45410263G>A		Somatic	931	Capture	Illumina HiSeq	Phase_I	43197555	NM_144565	B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	CCDS10118.2																																																																																				0.557	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
DUOX1	53905	broad.mit.edu	37	15	45444491	45444491	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45444491C>A	ENST00000321429.4	+	26	3608	c.3201C>A	c.(3199-3201)gcC>gcA	p.A1067A	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.A1067A|DUOX1_ENST00000561166.1_Silent_p.A713A	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1067	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.A1067A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		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;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGACTACGCCTTTGCCGCAC	0.622																																					p.A1067A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3201A	15						.						97.0	74.0	82.0					15																	45444491		2197	4298	6495	43231783	SO:0001819	synonymous_variant	53905	exon26			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3201C>A	15.37:g.45444491C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43231783	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
DUOX1	53905	broad.mit.edu	37	15	45448069	45448069	+	Missense_Mutation	SNP	G	G	A	rs142004175	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45448069G>A	ENST00000321429.4	+	29	4051	c.3644G>A	c.(3643-3645)cGc>cAc	p.R1215H	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1215H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R861H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1215	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R1215H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		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;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CACTTCCGCCGCCGCAGTTTC	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		17216	0.0		0.003	False		,,,				2504	0.0				p.R1215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3644A	15						.	G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	101.0	97.0	99.0		3644,3644	4.1	1.0	15	dbSNP_134	99	7,8589	5.7+/-21.5	0,7,4291	no	missense,missense	DUOX1	NM_017434.3,NM_175940.1	29,29	0,7,6489	AA,AG,GG		0.0814,0.0,0.0539	probably-damaging,probably-damaging	1215/1552,1215/1552	45448069	7,12985	2198	4298	6496	43235361	SO:0001583	missense	53905	exon29			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3644G>A	15.37:g.45448069G>A	ENSP00000317997:p.Arg1215His	Somatic		Capture	Illumina HiSeq	Phase_I	43235361	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	24.8	4.574797	0.86542	0.0	8.14E-4	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.92965	-3.14;-3.14	4.11	4.11	0.48088	Flavoprotein transmembrane component (1);	0.101493	0.64402	D	0.000001	D	0.97176	0.9077	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98121	1.0425	10	0.87932	D	0	-24.2205	14.2201	0.65820	0.0:0.0:1.0:0.0	.	1215	Q9NRD9	DUOX1_HUMAN	H	1215	ENSP00000317997:R1215H;ENSP00000373689:R1215H	ENSP00000317997:R1215H	R	+	2	0	DUOX1	43235361	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.507000	0.66999	2.265000	0.75225	0.563000	0.77884	CGC		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
DUOX1	53905	broad.mit.edu	37	15	45456988	45456988	+	Silent	SNP	C	C	T	rs367674334		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45456988C>T	ENST00000321429.4	+	35	4952	c.4545C>T	c.(4543-4545)atC>atT	p.I1515I	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.I1515I|DUOX1_ENST00000561166.1_Silent_p.I1161I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1515					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.I1515I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		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;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCCGGAAGATCGGGGTGTTTA	0.542																																					p.I1515I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4545T	15						.	C	,	0,4396		0,0,2198	194.0	184.0	187.0		4545,4545	-8.0	0.8	15		187	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	1515/1552,1515/1552	45456988	1,12991	2198	4298	6496	43244280	SO:0001819	synonymous_variant	53905	exon35			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4545C>T	15.37:g.45456988C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43244280	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
SLC28A2	9153	broad.mit.edu	37	15	45559854	45559854	+	Intron	SNP	C	C	T	rs146025315	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45559854C>T	ENST00000347644.3	+	12	1133				CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.?(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTAAGTCTGGCGCCTCACAGG	0.537													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21902	0.0		0.0	False		,,,				2504	0.0				.	NSCLC(92;493 1501 26361 28917 47116)											.	.	1	Unknown(1)	large_intestine(1)	.	15						.	C		10,4386	16.8+/-37.8	0,10,2188	150.0	134.0	139.0			0.1	0.8	15	dbSNP_134	139	0,8596		0,0,4298	no	intron	SLC28A2	NM_004212.3		0,10,6486	TT,TC,CC		0.0,0.2275,0.077			45559854	10,12982	2198	4298	6496	43347146	SO:0001627	intron_variant	9153	.			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1069-10C>T	15.37:g.45559854C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43347146	.	A8K7F9|O43239|Q52LZ0	Intron	SNP	ENST00000347644.3	37	CCDS10121.1																																																																																				0.537	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
GATM	2628	broad.mit.edu	37	15	45654352	45654352	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45654352G>A	ENST00000396659.3	-	9	1566	c.1227C>T	c.(1225-1227)acC>acT	p.T409T		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	409					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.T409T(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGACATCGCAGGTCCAGCAAT	0.512																																					p.T409T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1227T	15						.						90.0	76.0	81.0					15																	45654352		2198	4298	6496	43441644	SO:0001819	synonymous_variant	2628	exon9			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1227C>T	15.37:g.45654352G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43441644	NM_001482	B4DH99|B4DPI3|Q53EQ4	Silent	SNP	ENST00000396659.3	37	CCDS10122.1																																																																																				0.512	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482	
SPATA5L1	79029	broad.mit.edu	37	15	45707797	45707797	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45707797G>C	ENST00000305560.6	+	5	1756	c.1657G>C	c.(1657-1659)Gca>Cca	p.A553P	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A553P	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	553						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A553P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ATTTCGACAAGCAAGAGCAAG	0.318																																					p.A553P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1657C	15						.						56.0	55.0	56.0					15																	45707797		2198	4298	6496	43495089	SO:0001583	missense	79029	exon5			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1657G>C	15.37:g.45707797G>C	ENSP00000305494:p.Ala553Pro	Somatic		Capture	Illumina HiSeq	Phase_I	43495089	NM_024063	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.916541|4.916541	0.92249|0.92249	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000305560|ENST00000531624	D|.	0.96913|.	-4.17|.	5.54|5.54	5.54|5.54	0.83059|0.83059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85146|0.85146	0.5630|0.5630	M|M	0.90309|0.90309	3.105|3.105	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.87259|0.87259	0.2278|0.2278	10|5	0.87932|.	D|.	0|.	-32.9172|-32.9172	18.4007|18.4007	0.90515|0.90515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	553|.	Q9BVQ7|.	SPA5L_HUMAN|.	P|N	553|57	ENSP00000305494:A553P|.	ENSP00000305494:A553P|.	A|K	+|+	1|3	0|2	SPATA5L1|SPATA5L1	43495089|43495089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.217000|8.217000	0.89766|0.89766	2.759000|2.759000	0.94783|0.94783	0.655000|0.655000	0.94253|0.94253	GCA|AAG		0.318	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063	
BLOC1S6	26258	broad.mit.edu	37	15	45895337	45895337	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:45895337G>T	ENST00000220531.3	+	3	585	c.264G>T	c.(262-264)gaG>gaT	p.E88D	BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000565216.1_Missense_Mutation_p.E47D|BLOC1S6_ENST00000562384.1_5'UTR|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.E93D|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000567461.1_5'UTR|BLOC1S6_ENST00000568816.1_5'UTR|BLOC1S6_ENST00000564765.1_5'UTR|BLOC1S6_ENST00000565409.1_5'UTR	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	88					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)	p.E88D(1)									TGGAACAAGAGATTTCAAAAT	0.318																																					p.E88D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	15						.						98.0	99.0	98.0					15																	45895337		2198	4295	6493	43682629	SO:0001583	missense	26258	exon3			AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.264G>T	15.37:g.45895337G>T	ENSP00000220531:p.Glu88Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43682629	NM_012388		Missense_Mutation	SNP	ENST00000220531.3	37	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862208	0.71949	.	.	ENSG00000104164	ENST00000220531	.	.	.	6.17	0.0352	0.14187	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.76629	-0.2889	9	0.72032	D	0.01	-21.7145	10.0042	0.41946	0.4964:0.0:0.5036:0.0	.	88	Q9UL45	PLDN_HUMAN	D	88	.	ENSP00000220531:E88D	E	+	3	2	PLDN	43682629	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.155000	0.31700	-0.002000	0.14469	-0.140000	0.14226	GAG		0.318	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	NM_012388	
SEMA6D	80031	broad.mit.edu	37	15	48056121	48056121	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48056121G>T	ENST00000316364.5	+	10	1261	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SEMA6D_ENST00000358066.4_Missense_Mutation_p.W274C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.W274C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.W274C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.W274C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.W274C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.W274C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.W274C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.W274C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.W274C(3)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGAAACACTGGACTTCATTTC	0.468																																					p.W274C												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G822T	15						.						154.0	142.0	146.0					15																	48056121		2198	4297	6495	45843413	SO:0001583	missense	80031	exon10			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.822G>T	15.37:g.48056121G>T	ENSP00000324857:p.Trp274Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45843413	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845196	0.91197	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	H	0.96970	3.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.85031	0.0917	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	274;274;274;274;274	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	274	ENSP00000442040:W274C;ENSP00000446152:W274C;ENSP00000324857:W274C;ENSP00000374084:W274C;ENSP00000374083:W274C;ENSP00000346786:W274C;ENSP00000350770:W274C;ENSP00000374079:W274C;ENSP00000348276:W274C;ENSP00000374076:W274C	ENSP00000324857:W274C	W	+	3	0	SEMA6D	45843413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	TGG		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SEMA6D	80031	broad.mit.edu	37	15	48062682	48062682	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48062682T>C	ENST00000316364.5	+	19	2372				SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTGTCCCATGTGTCTATTTCA	0.408																																					.												.	.	0			.	15						.						111.0	106.0	108.0					15																	48062682		2198	4297	6495	45849974	SO:0001627	intron_variant	80031	.			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1934-12T>C	15.37:g.48062682T>C		Somatic		Capture	Illumina HiSeq	Phase_I	45849974	.	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Intron	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																				0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
MYEF2	50804	broad.mit.edu	37	15	48435191	48435191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48435191C>A	ENST00000324324.7	-	17	1996	c.1717G>T	c.(1717-1719)Gaa>Taa	p.E573*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.E549*	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	573	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E573*(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCAGCTGATTCTGGGGAGTCA	0.368																																					p.E573X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1717T	15						.						148.0	138.0	141.0					15																	48435191		2198	4297	6495	46222483	SO:0001587	stop_gained	50804	exon17			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1717G>T	15.37:g.48435191C>A	ENSP00000316950:p.Glu573*	Somatic		Capture	Illumina HiSeq	Phase_I	46222483	NM_016132	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Nonsense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	38	6.934463	0.97944	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	.	.	.	5.66	4.75	0.60458	.	0.201884	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-22.5688	14.7831	0.69781	0.0:0.9306:0.0:0.0694	.	.	.	.	X	573;549;161	.	ENSP00000267836:E549X	E	-	1	0	MYEF2	46222483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.748000	0.85085	1.523000	0.49018	0.655000	0.94253	GAA		0.368	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
SLC12A1	6557	broad.mit.edu	37	15	48500120	48500120	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48500120G>T	ENST00000558405.1	+	1	218	c.204G>T	c.(202-204)gaG>gaT	p.E68D	SLC12A1_ENST00000330289.6_Missense_Mutation_p.E68D|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E68D|SLC12A1_ENST00000396577.3_Missense_Mutation_p.E68D|SLC12A1_ENST00000561031.1_Missense_Mutation_p.E68D			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	68					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.E68D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGAATCAGGAGTGCTATGACA	0.413																																					p.E68D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G204T	15						.						97.0	96.0	96.0					15																	48500120		2198	4297	6495	46287412	SO:0001583	missense	6557	exon2				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.204G>T	15.37:g.48500120G>T	ENSP00000453409:p.Glu68Asp	Somatic		Capture	Illumina HiSeq	Phase_I	46287412	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.97|11.97	1.797972|1.797972	0.31777|0.31777	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289|ENST00000546071	D;D;D|.	0.91464|.	-1.95;-1.95;-2.85|.	5.58|5.58	2.71|2.71	0.32032|0.32032	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.28234|0.28234	0.0697|0.0697	N|N	0.08118|0.08118	0|0	0.34994|0.34994	D|D	0.755361|0.755361	B;B|.	0.16603|.	0.001;0.018|.	B;B|.	0.22152|.	0.003;0.038|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|6	0.19590|0.87932	T|D	0.45|0	.|.	4.3928|4.3928	0.11348|0.11348	0.355:0.1589:0.4861:0.0|0.355:0.1589:0.4861:0.0	.|.	68;68|.	Q8IUN5;Q13621|.	.;S12A1_HUMAN|.	D|I	68|42	ENSP00000370381:E68D;ENSP00000379822:E68D;ENSP00000331550:E68D|.	ENSP00000331550:E68D|ENSP00000441148:S42I	E|S	+|+	3|2	2|0	SLC12A1|SLC12A1	46287412|46287412	0.981000|0.981000	0.34729|0.34729	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	1.374000|1.374000	0.34283|0.34283	0.319000|0.319000	0.23209|0.23209	0.655000|0.655000	0.94253|0.94253	GAG|AGT		0.413	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48522600	48522600	+	Missense_Mutation	SNP	C	C	T	rs201820156		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48522600C>T	ENST00000558405.1	+	6	889	c.875C>T	c.(874-876)tCg>tTg	p.S292L	SLC12A1_ENST00000330289.6_Missense_Mutation_p.S292L|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Missense_Mutation_p.S292L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.S292L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	292					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.S292L(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAGAGTGATTCGATGATGGTG	0.403																																					p.S292L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C875T	15						.	C	LEU/SER,LEU/SER	0,4396		0,0,2198	75.0	62.0	66.0		875,875	5.7	1.0	15		66	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense	SLC12A1	NM_000338.2,NM_001184832.1	145,145	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	292/1100,292/1100	48522600	2,12988	2198	4297	6495	46309892	SO:0001583	missense	6557	exon7				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.875C>T	15.37:g.48522600C>T	ENSP00000453409:p.Ser292Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46309892	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443730	0.12164	0.0	2.33E-4	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98602	-5.02;-5.02;-5.02	5.66	5.66	0.87406	Amino acid permease domain (1);	0.338906	0.30185	N	0.010219	D	0.94052	0.8094	N	0.04805	-0.155	0.34487	D	0.704511	P;B;B	0.34629	0.46;0.011;0.007	B;B;B	0.32805	0.153;0.011;0.004	D	0.94353	0.7581	10	0.24483	T	0.36	.	19.7502	0.96265	0.0:1.0:0.0:0.0	.	292;292;292	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	L	105;292;292;292	ENSP00000370381:S292L;ENSP00000379822:S292L;ENSP00000331550:S292L	ENSP00000331550:S292L	S	+	2	0	SLC12A1	46309892	0.999000	0.42202	1.000000	0.80357	0.665000	0.39181	5.359000	0.66074	2.654000	0.90174	0.650000	0.86243	TCG		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
FBN1	2200	broad.mit.edu	37	15	48737669	48737669	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48737669G>T	ENST00000316623.5	-	48	6276	c.5821C>A	c.(5821-5823)Ctt>Att	p.L1941I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1941	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1941I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCTGCAAAGATTCCCATTT	0.423																																					p.L1941I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5821A	15						.						149.0	128.0	135.0					15																	48737669		2198	4296	6494	46524961	SO:0001583	missense	2200	exon48			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5821C>A	15.37:g.48737669G>T	ENSP00000325527:p.Leu1941Ile	Somatic		Capture	Illumina HiSeq	Phase_I	46524961	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164902	0.38217	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.91894	-2.93	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.059302	0.64402	D	0.000002	D	0.93061	0.7791	L	0.28014	0.82	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.90763	0.4666	10	0.22109	T	0.4	.	19.5931	0.95523	0.0:0.0:1.0:0.0	.	1941	P35555	FBN1_HUMAN	I	1941;509;831	ENSP00000325527:L1941I	ENSP00000325527:L1941I	L	-	1	0	FBN1	46524961	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	3.580000	0.53907	2.729000	0.93468	0.655000	0.94253	CTT		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48755378	48755378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:48755378C>A	ENST00000316623.5	-	42	5580	c.5125G>T	c.(5125-5127)Gaa>Taa	p.E1709*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1709	TB 7.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1709*(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATAACAATTCTCCATCACAG	0.458																																					p.E1709X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5125T	15						.						132.0	126.0	128.0					15																	48755378		2198	4296	6494	46542670	SO:0001587	stop_gained	2200	exon42			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5125G>T	15.37:g.48755378C>A	ENSP00000325527:p.Glu1709*	Somatic		Capture	Illumina HiSeq	Phase_I	46542670	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146183	0.97324	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.989	0.97359	0.0:1.0:0.0:0.0	.	.	.	.	X	1709;277;599	.	ENSP00000325527:E1709X	E	-	1	0	FBN1	46542670	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.830000	0.97506	0.585000	0.79938	GAA		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CEP152	22995	broad.mit.edu	37	15	49034286	49034286	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49034286G>A	ENST00000380950.2	-	25	4034	c.3847C>T	c.(3847-3849)Cgt>Tgt	p.R1283C	CEP152_ENST00000325747.5_Missense_Mutation_p.R1190C|CEP152_ENST00000399334.3_Missense_Mutation_p.R1227C	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1283					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.R1227C(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAATATAACGAAGCATGTCA	0.418																																					p.R1283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3847T	15						.						130.0	114.0	119.0					15																	49034286		1873	4112	5985	46821578	SO:0001583	missense	22995	exon25			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3847C>T	15.37:g.49034286G>A	ENSP00000370337:p.Arg1283Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46821578	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845402	0.51164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.57273	0.44;0.48;0.41	6.03	5.1	0.69264	.	0.137636	0.48767	D	0.000162	T	0.46718	0.1407	L	0.52759	1.655	0.80722	D	1	P;D;D	0.54397	0.869;0.966;0.966	B;B;B	0.42163	0.259;0.378;0.378	T	0.47971	-0.9075	10	0.45353	T	0.12	-6.8434	11.0386	0.47816	0.0737:0.1314:0.795:0.0	.	1190;1283;1227	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	C	1283;1190;1227	ENSP00000370337:R1283C;ENSP00000321000:R1190C;ENSP00000382271:R1227C	ENSP00000321000:R1190C	R	-	1	0	CEP152	46821578	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.784000	0.55416	1.536000	0.49237	0.655000	0.94253	CGT		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49054621	49054621	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49054621C>A	ENST00000380950.2	-	18	2716	c.2529G>T	c.(2527-2529)ttG>ttT	p.L843F	CEP152_ENST00000325747.5_Missense_Mutation_p.L750F|CEP152_ENST00000399334.3_Missense_Mutation_p.L843F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	843					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L843F(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTTGAGTTCCAATTCAATTT	0.353																																					p.L843F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2529T	15						.						153.0	135.0	141.0					15																	49054621		1823	4082	5905	46841913	SO:0001583	missense	22995	exon18			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2529G>T	15.37:g.49054621C>A	ENSP00000370337:p.Leu843Phe	Somatic		Capture	Illumina HiSeq	Phase_I	46841913	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569598	0.28003	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.58060	0.36;0.39;0.38	5.18	2.3	0.28687	.	0.161411	0.40554	N	0.001079	T	0.60932	0.2307	M	0.71581	2.175	0.32724	N	0.509927	D;D;D	0.69078	0.997;0.979;0.992	P;P;P	0.62813	0.856;0.79;0.907	T	0.64676	-0.6351	10	0.38643	T	0.18	-1.5537	4.2467	0.10675	0.1588:0.5878:0.0:0.2534	.	750;843;843	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	843;750;843	ENSP00000370337:L843F;ENSP00000321000:L750F;ENSP00000382271:L843F	ENSP00000321000:L750F	L	-	3	2	CEP152	46841913	0.623000	0.27094	0.873000	0.34254	0.322000	0.28314	0.116000	0.15561	0.448000	0.26722	0.650000	0.86243	TTG		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49089853	49089853	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49089853C>T	ENST00000380950.2	-	4	449				CEP152_ENST00000325747.5_Intron|CEP152_ENST00000399334.3_Intron	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.?(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACACCAGATACTTACATTTAC	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						161.0	148.0	152.0					15																	49089853		1963	4169	6132	46877145	SO:0001627	intron_variant	22995	.			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.261+4G>A	15.37:g.49089853C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46877145	.	E7ER66|Q17RV1|Q6NTA0	Intron	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49097857	49097857	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49097857T>C	ENST00000380950.2	-	2	181				CEP152_ENST00000325747.5_Intron|CEP152_ENST00000399334.3_Intron	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGTCCTCCTGTGGGAAGGGAA	0.423																																					.												.	.	0			.	15						.						129.0	115.0	119.0					15																	49097857		1855	4102	5957	46885149	SO:0001627	intron_variant	22995	.			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.7-4A>G	15.37:g.49097857T>C		Somatic		Capture	Illumina HiSeq	Phase_I	46885149	.	E7ER66|Q17RV1|Q6NTA0	Intron	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.423	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
SHC4	399694	broad.mit.edu	37	15	49183014	49183014	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49183014G>T	ENST00000332408.4	-	3	1085					NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.?(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTTCCCTAAAGAACAgaaacc	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						119.0	113.0	115.0					15																	49183014		2197	4295	6492	46970306	SO:0001627	intron_variant	399694	.			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.657-6C>A	15.37:g.49183014G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46970306	.	Q6UXQ3|Q8IYW3	Intron	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																				0.368	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
SECISBP2L	9728	broad.mit.edu	37	15	49309755	49309755	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:49309755G>T	ENST00000559471.1	-	9	1504	c.1241C>A	c.(1240-1242)tCt>tAt	p.S414Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S369Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	414							poly(A) RNA binding (GO:0044822)	p.S369Y(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TACTTTAGAAGAAAGTTTTTG	0.284																																					p.S369Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1106A	15						.						69.0	67.0	68.0					15																	49309755		2194	4290	6484	47097047	SO:0001583	missense	9728	exon8			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1241C>A	15.37:g.49309755G>T	ENSP00000453854:p.Ser414Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	47097047	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187827	0.38609	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89746	-2.56	5.39	5.39	0.77823	.	0.216029	0.50627	D	0.000117	D	0.85729	0.5764	L	0.44542	1.39	0.37415	D	0.91338	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	D	0.83418	0.0031	10	0.49607	T	0.09	.	16.6658	0.85253	0.0:0.0:1.0:0.0	.	414;369	Q93073;Q93073-2	SBP2L_HUMAN;.	Y	369;414	ENSP00000261847:S369Y	ENSP00000261847:S369Y	S	-	2	0	SECISBP2L	47097047	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	5.466000	0.66731	2.675000	0.91044	0.655000	0.94253	TCT		0.284	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
GABPB1	2553	broad.mit.edu	37	15	50578303	50578303	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50578303C>T	ENST00000220429.8	-	8	1165	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	GABPB1_ENST00000359031.4_Missense_Mutation_p.E321K|GABPB1_ENST00000429662.2_Missense_Mutation_p.E333K|GABPB1_ENST00000560825.1_Missense_Mutation_p.E320K|GABPB1_ENST00000396464.3_Missense_Mutation_p.E321K|GABPB1_ENST00000380877.3_Missense_Mutation_p.E321K|GABPB1_ENST00000543881.1_Missense_Mutation_p.E257K			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	333					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E333K(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCAATTATTTCGATACATTGT	0.343																																					p.E333K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	15						.						106.0	111.0	109.0					15																	50578303		2196	4295	6491	48365595	SO:0001583	missense	2553	exon8			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.997G>A	15.37:g.50578303C>T	ENSP00000220429:p.Glu333Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48365595	NM_002041	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353788	0.95830	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.70516	-0.27;0.51;-0.49;-0.49;-0.49	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.79834	0.4514	L	0.48642	1.525	0.58432	D	0.999999	D;B;D;D;D	0.63046	0.992;0.213;0.986;0.992;0.972	D;B;D;D;B	0.68192	0.935;0.028;0.956;0.935;0.365	T	0.74748	-0.3560	10	0.25751	T	0.34	-16.3532	19.7305	0.96180	0.0:1.0:0.0:0.0	.	333;333;321;333;321	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	K	321;333;257;321;333;321	ENSP00000370259:E333K;ENSP00000442500:E257K;ENSP00000379728:E321K;ENSP00000395771:E333K;ENSP00000351923:E321K	ENSP00000220429:E321K	E	-	1	0	GABPB1	48365595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.363000	0.59473	2.663000	0.90544	0.484000	0.47621	GAA		0.343	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
GABPB1	2553	broad.mit.edu	37	15	50601882	50601882	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50601882C>A	ENST00000220429.8	-	2	277				GABPB1_ENST00000359031.4_Intron|GABPB1_ENST00000429662.2_Intron|GABPB1_ENST00000560825.1_Intron|GABPB1_ENST00000396464.3_Intron|GABPB1_ENST00000380877.3_Intron|GABPB1_ENST00000543881.1_Intron			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TAAAATCATTCTTTACCCAGT	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						152.0	159.0	157.0					15																	50601882		2196	4295	6491	48389174	SO:0001627	intron_variant	2553	.			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.108+5G>T	15.37:g.50601882C>A		Somatic		Capture	Illumina HiSeq	Phase_I	48389174	.	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Intron	SNP	ENST00000220429.8	37	CCDS32239.1																																																																																				0.343	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
USP8	9101	broad.mit.edu	37	15	50776466	50776466	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50776466T>G	ENST00000396444.3	+	12	2141				USP8_ENST00000433963.1_Intron|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Intron	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTTAATAATTTTACAGCCATT	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						41.0	44.0	43.0					15																	50776466		2189	4283	6472	48563758	SO:0001627	intron_variant	9101	.			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1804-6T>G	15.37:g.50776466T>G		Somatic		Capture	Illumina HiSeq	Phase_I	48563758	.	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Intron	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
TRPM7	54822	broad.mit.edu	37	15	50853889	50853889	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50853889G>A	ENST00000313478.7	-	39	5865	c.5584C>T	c.(5584-5586)Cgt>Tgt	p.R1862C	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.R1861C|RP11-120K9.2_ENST00000558237.1_RNA	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1862					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1861C(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACATCAGACGAACAGAATTA	0.363																																					p.R1862C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5584T	15						.						51.0	51.0	51.0					15																	50853889		1841	4092	5933	48641181	SO:0001583	missense	54822	exon39			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5584C>T	15.37:g.50853889G>A	ENSP00000320239:p.Arg1862Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48641181	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605475	0.66445	.	.	ENSG00000092439	ENST00000313478	T	0.57436	0.4	4.77	4.77	0.60923	.	0.093884	0.42172	D	0.000751	T	0.59851	0.2224	M	0.66939	2.045	0.58432	D	0.999997	D	0.67145	0.996	P	0.47528	0.549	T	0.68116	-0.5494	10	0.87932	D	0	-13.6287	17.9592	0.89079	0.0:0.0:1.0:0.0	.	1862	Q96QT4	TRPM7_HUMAN	C	1862	ENSP00000320239:R1862C	ENSP00000320239:R1862C	R	-	1	0	TRPM7	48641181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.492000	0.73654	2.470000	0.83445	0.585000	0.79938	CGT		0.363	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50904985	50904985	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50904985T>G	ENST00000313478.7	-	16	2093	c.1812A>C	c.(1810-1812)aaA>aaC	p.K604N	TRPM7_ENST00000560955.1_Missense_Mutation_p.K604N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	604					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K604N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAATTTCATCTTTGGTTCTTT	0.348																																					p.K604N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1812C	15						.						193.0	191.0	191.0					15																	50904985		1819	4077	5896	48692277	SO:0001583	missense	54822	exon16			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1812A>C	15.37:g.50904985T>G	ENSP00000320239:p.Lys604Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48692277	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124598	0.56613	.	.	ENSG00000092439	ENST00000313478	T	0.74421	-0.84	5.44	4.3	0.51218	.	0.097216	0.64402	D	0.000001	T	0.74512	0.3726	M	0.75447	2.3	0.52501	D	0.999951	P	0.42123	0.771	B	0.40410	0.328	T	0.76862	-0.2802	10	0.72032	D	0.01	-4.4272	12.9391	0.58333	0.0:0.0:0.1352:0.8648	.	604	Q96QT4	TRPM7_HUMAN	N	604	ENSP00000320239:K604N	ENSP00000320239:K604N	K	-	3	2	TRPM7	48692277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.006000	0.40874	0.972000	0.38314	0.477000	0.44152	AAA		0.348	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50916504	50916504	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:50916504G>T	ENST00000313478.7	-	12	1587				TRPM7_ENST00000560955.1_Intron	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACCTAGGAGTATCAAATTT	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						66.0	61.0	63.0					15																	50916504		1814	4057	5871	48703796	SO:0001627	intron_variant	54822	.			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1306-7C>A	15.37:g.50916504G>T		Somatic		Capture	Illumina HiSeq	Phase_I	48703796	.	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Intron	SNP	ENST00000313478.7	37	CCDS42035.1																																																																																				0.294	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
AP4E1	23431	broad.mit.edu	37	15	51221222	51221222	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51221222A>T	ENST00000261842.5	+	6	665	c.559A>T	c.(559-561)Aaa>Taa	p.K187*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.K112*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	187					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.K187*(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTACGAAGAAAAGCTGTTCT	0.328																																					p.K187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A559T	15						.						89.0	84.0	86.0					15																	51221222		2196	4294	6490	49008514	SO:0001587	stop_gained	23431	exon6			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.559A>T	15.37:g.51221222A>T	ENSP00000261842:p.Lys187*	Somatic		Capture	Illumina HiSeq	Phase_I	49008514	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	37	6.298446	0.97453	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9454	14.7863	0.69806	1.0:0.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000261842:K187X	K	+	1	0	AP4E1	49008514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.091000	0.63221	0.482000	0.46254	AAA		0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
AP4E1	23431	broad.mit.edu	37	15	51233724	51233724	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51233724A>C	ENST00000261842.5	+	9	1135	c.1029A>C	c.(1027-1029)aaA>aaC	p.K343N	AP4E1_ENST00000560508.1_Missense_Mutation_p.K268N	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	343					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.K343N(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCATTGGAAAATTTGTTCTGT	0.303																																					p.K343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1029C	15						.						92.0	87.0	89.0					15																	51233724		2196	4291	6487	49021016	SO:0001583	missense	23431	exon9			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1029A>C	15.37:g.51233724A>C	ENSP00000261842:p.Lys343Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49021016	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184251	0.38609	.	.	ENSG00000081014	ENST00000261842	T	0.26810	1.71	5.74	3.44	0.39384	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.144457	0.64402	D	0.000006	T	0.16896	0.0406	L	0.28274	0.84	0.40772	D	0.983099	B;B	0.30563	0.001;0.285	B;B	0.28011	0.002;0.085	T	0.07366	-1.0776	10	0.52906	T	0.07	-17.824	9.2895	0.37778	0.8545:0.0:0.1455:0.0	.	343;343	B4DM48;Q9UPM8	.;AP4E1_HUMAN	N	343	ENSP00000261842:K343N	ENSP00000261842:K343N	K	+	3	2	AP4E1	49021016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.193000	0.42658	1.113000	0.41760	0.460000	0.39030	AAA		0.303	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
CYP19A1	1588	broad.mit.edu	37	15	51535008	51535008	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51535008A>G	ENST00000396402.1	-	2	255	c.102T>C	c.(100-102)ctT>ctC	p.L34L	MIR4713_ENST00000582691.1_RNA|CYP19A1_ENST00000559878.1_Silent_p.L34L|CYP19A1_ENST00000405913.3_Silent_p.L34L|CYP19A1_ENST00000557858.1_Silent_p.L34L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.L34L|CYP19A1_ENST00000396404.4_Silent_p.L34L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	34					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L34L(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CCAAGAGAAAAAGGCCAGTGA	0.453																																					p.L34L	Melanoma(142;1016 1807 39614 48966 51721)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T102C	15						.						145.0	123.0	130.0					15																	51535008		2196	4293	6489	49322300	SO:0001819	synonymous_variant	1588	exon3			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.102T>C	15.37:g.51535008A>G		Somatic		Capture	Illumina HiSeq	Phase_I	49322300	NM_031226	Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	ENST00000396402.1	37	CCDS10139.1																																																																																				0.453	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
DMXL2	23312	broad.mit.edu	37	15	51750763	51750763	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51750763G>T	ENST00000251076.5	-	35	8359	c.8072C>A	c.(8071-8073)tCt>tAt	p.S2691Y	DMXL2_ENST00000449909.3_Missense_Mutation_p.S2055Y|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2692Y|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2691						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S2691Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGCCAGTAGAGAAGTAACATC	0.348																																					p.S2691Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8072A	15						.						125.0	117.0	120.0					15																	51750763		2196	4293	6489	49538055	SO:0001583	missense	23312	exon35			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8072C>A	15.37:g.51750763G>T	ENSP00000251076:p.Ser2691Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	49538055	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016292	0.75161	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.24908	1.97;1.97;1.83	6.16	5.24	0.73138	.	0.214238	0.48767	D	0.000169	T	0.38321	0.1036	L	0.43152	1.355	0.37203	D	0.904478	P;D;P;P	0.67145	0.923;0.996;0.94;0.897	P;P;P;P	0.56700	0.642;0.804;0.541;0.497	T	0.44605	-0.9317	10	0.62326	D	0.03	.	15.9324	0.79675	0.0:0.2546:0.7454:0.0	.	2692;2055;2691;2692	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2691;2692;2055;257	ENSP00000251076:S2691Y;ENSP00000441858:S2692Y;ENSP00000400855:S2055Y	ENSP00000251076:S2691Y	S	-	2	0	DMXL2	49538055	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	3.523000	0.53488	1.600000	0.50102	0.650000	0.86243	TCT		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51766616	51766616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51766616G>A	ENST00000251076.5	-	28	7422	c.7135C>T	c.(7135-7137)Cga>Tga	p.R2379*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R1743*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2380*|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2379						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R2379*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCCCACATTCGATTATTTAAT	0.388																																					p.R2379X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7135T	15						.						54.0	56.0	55.0					15																	51766616		2196	4293	6489	49553908	SO:0001587	stop_gained	23312	exon28			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7135C>T	15.37:g.51766616G>A	ENSP00000251076:p.Arg2379*	Somatic		Capture	Illumina HiSeq	Phase_I	49553908	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	46	12.389625	0.99663	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.59	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	14.8261	0.70113	0.0:0.0:0.7368:0.2632	.	.	.	.	X	2379;2380;1743	.	ENSP00000251076:R2379X	R	-	1	2	DMXL2	49553908	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.291000	0.65667	0.695000	0.31675	-0.152000	0.13540	CGA		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51792126	51792126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51792126C>A	ENST00000251076.5	-	18	3582	c.3295G>T	c.(3295-3297)Gaa>Taa	p.E1099*	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.E1099*|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1099						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E1099*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGGAAAATTCTTTAGAAACA	0.398																																					p.E1099X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3295T	15						.						76.0	69.0	72.0					15																	51792126		2195	4293	6488	49579418	SO:0001587	stop_gained	23312	exon18			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3295G>T	15.37:g.51792126C>A	ENSP00000251076:p.Glu1099*	Somatic		Capture	Illumina HiSeq	Phase_I	49579418	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	41	8.655034	0.98901	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	.	.	.	5.56	5.56	0.83823	.	0.044496	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.5332	0.95237	0.0:1.0:0.0:0.0	.	.	.	.	X	1099	.	ENSP00000251076:E1099X	E	-	1	0	DMXL2	49579418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.608000	0.88229	0.591000	0.81541	GAA		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51839448	51839448	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51839448T>G	ENST00000251076.5	-	7	1012	c.725A>C	c.(724-726)aAa>aCa	p.K242T	DMXL2_ENST00000449909.3_Missense_Mutation_p.K242T|DMXL2_ENST00000543779.2_Missense_Mutation_p.K242T|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	242						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.K242T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTTGCTAGTTTTGCGCCACGA	0.358																																					p.K242T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A725C	15						.						96.0	95.0	96.0					15																	51839448		2195	4293	6488	49626740	SO:0001583	missense	23312	exon7			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.725A>C	15.37:g.51839448T>G	ENSP00000251076:p.Lys242Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49626740	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192813	0.58017	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.11385	2.78;2.78;2.78	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.131811	0.64402	D	0.000002	T	0.15609	0.0376	L	0.57536	1.79	0.26996	N	0.965028	P;P;P	0.40834	0.73;0.549;0.608	B;B;B	0.40256	0.156;0.239;0.324	T	0.06734	-1.0810	10	0.56958	D	0.05	.	15.5528	0.76167	0.0:0.0:0.0:1.0	.	242;242;242	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	T	242	ENSP00000251076:K242T;ENSP00000441858:K242T;ENSP00000400855:K242T	ENSP00000251076:K242T	K	-	2	0	DMXL2	49626740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.967000	0.70403	2.092000	0.63282	0.477000	0.44152	AAA		0.358	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51860704	51860704	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:51860704T>G	ENST00000251076.5	-	3	552	c.265A>C	c.(265-267)Aat>Cat	p.N89H	DMXL2_ENST00000449909.3_Missense_Mutation_p.N89H|DMXL2_ENST00000543779.2_Missense_Mutation_p.N89H|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	89						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.N89H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTATGAGAATTTATGCCCAAG	0.264																																					p.N89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A265C	15						.						30.0	30.0	30.0					15																	51860704		2186	4272	6458	49647996	SO:0001583	missense	23312	exon3			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.265A>C	15.37:g.51860704T>G	ENSP00000251076:p.Asn89His	Somatic		Capture	Illumina HiSeq	Phase_I	49647996	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469755	0.63625	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.11821	2.74;2.74;2.74	5.04	5.04	0.67666	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.54323	1.7	0.24784	N	0.992791	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.968;0.987;0.996	T	0.07233	-1.0783	10	0.39692	T	0.17	.	15.0673	0.72005	0.0:0.0:0.0:1.0	.	89;89;89	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	89	ENSP00000251076:N89H;ENSP00000441858:N89H;ENSP00000400855:N89H	ENSP00000251076:N89H	N	-	1	0	DMXL2	49647996	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.546000	0.67243	2.027000	0.59764	0.528000	0.53228	AAT		0.264	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
MYO5C	55930	broad.mit.edu	37	15	52543721	52543721	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:52543721G>T	ENST00000261839.7	-	13	1698				MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AACTGGAAAAGAAAAATAAAC	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						79.0	76.0	77.0					15																	52543721		1810	4073	5883	50331013	SO:0001627	intron_variant	55930	.			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1537-9C>A	15.37:g.52543721G>T		Somatic		Capture	Illumina HiSeq	Phase_I	50331013	.	Q6P1W8	Intron	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.353	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5C	55930	broad.mit.edu	37	15	52561977	52561977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:52561977C>A	ENST00000261839.7	-	8	1074	c.913G>T	c.(913-915)Gag>Tag	p.E305*	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Nonsense_Mutation_p.E248*	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	305	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E305*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTTGAGTCTCTACCATTTCA	0.383																																					p.E305X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G913T	15						.						199.0	181.0	187.0					15																	52561977		1873	4111	5984	50349269	SO:0001587	stop_gained	55930	exon8			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.913G>T	15.37:g.52561977C>A	ENSP00000261839:p.Glu305*	Somatic		Capture	Illumina HiSeq	Phase_I	50349269	NM_018728	Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940694	0.92526	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	.	.	.	X	305;248	.	ENSP00000261839:E305X	E	-	1	0	MYO5C	50349269	0.423000	0.25482	0.967000	0.41034	0.536000	0.34869	1.216000	0.32443	2.778000	0.95560	0.655000	0.94253	GAG		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5A	4644	broad.mit.edu	37	15	52681505	52681505	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:52681505T>C	ENST00000399231.3	-	13	1841	c.1598A>G	c.(1597-1599)aAc>aGc	p.N533S	MYO5A_ENST00000356338.6_Missense_Mutation_p.N533S|MYO5A_ENST00000553916.1_Missense_Mutation_p.N533S|MYO5A_ENST00000399233.2_Missense_Mutation_p.N533S|MYO5A_ENST00000358212.6_Missense_Mutation_p.N533S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	533	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.N533S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCACATTTGTTCAAATGTGT	0.353																																					p.N533S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1598G	15						.						108.0	97.0	101.0					15																	52681505		1834	4092	5926	50468797	SO:0001583	missense	4644	exon13				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1598A>G	15.37:g.52681505T>C	ENSP00000382177:p.Asn533Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50468797	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467779	0.26335	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.78	3.43	0.39272	Myosin head, motor domain (2);	0.179050	0.64402	N	0.000010	T	0.80243	0.4587	N	0.02192	-0.645	0.39093	D	0.961136	B;P	0.34955	0.002;0.477	B;B	0.30401	0.012;0.115	T	0.78460	-0.2195	10	0.02654	T	1	.	10.1182	0.42605	0.0:0.1367:0.0:0.8633	.	533;533	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	533;67;533;533;533;163;533	ENSP00000382177:N533S;ENSP00000382179:N533S;ENSP00000348693:N533S;ENSP00000350945:N533S;ENSP00000451109:N533S	ENSP00000348693:N533S	N	-	2	0	MYO5A	50468797	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.250000	0.58772	0.439000	0.26476	0.460000	0.39030	AAC		0.353	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
FAM214A	56204	broad.mit.edu	37	15	52903334	52903334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:52903334G>T	ENST00000261844.7	-	5	675	c.523C>A	c.(523-525)Ctc>Atc	p.L175I	FAM214A_ENST00000546305.2_Missense_Mutation_p.L182I	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	175								p.L175I(1)									TACCTGTAGAGAATATTTCGT	0.408																																					p.L175I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523A	15						.						121.0	117.0	119.0					15																	52903334		1865	4102	5967	50690626	SO:0001583	missense	56204	exon5			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.523C>A	15.37:g.52903334G>T	ENSP00000261844:p.Leu175Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50690626	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606986	0.87157	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.35421	1.32;1.31	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.50964	-0.8765	10	0.45353	T	0.12	.	17.1598	0.86801	0.0:0.0:0.8727:0.1273	.	182;175	F5H8G0;Q32MH5	.;K1370_HUMAN	I	175;175;174;182	ENSP00000261844:L175I;ENSP00000443598:L182I	ENSP00000261844:L175I	L	-	1	0	KIAA1370	50690626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.826000	0.55738	1.623000	0.50342	0.655000	0.94253	CTC		0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
WDR72	256764	broad.mit.edu	37	15	53907949	53907949	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:53907949G>A	ENST00000396328.1	-	15	2693	c.2454C>T	c.(2452-2454)caC>caT	p.H818H	WDR72_ENST00000559418.1_Silent_p.H828H|WDR72_ENST00000557913.1_Silent_p.H815H|WDR72_ENST00000360509.5_Silent_p.H818H	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	818								p.H818H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAATATTGAGGTGCTTAATGC	0.368																																					p.H818H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2454T	15						.						105.0	106.0	106.0					15																	53907949		2193	4293	6486	51695241	SO:0001819	synonymous_variant	256764	exon15			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2454C>T	15.37:g.53907949G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51695241	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.368	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	54015028	54015028	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54015028C>T	ENST00000396328.1	-	3	470	c.231G>A	c.(229-231)caG>caA	p.Q77Q	WDR72_ENST00000559418.1_Silent_p.Q77Q|WDR72_ENST00000557913.1_Silent_p.Q77Q|WDR72_ENST00000360509.5_Silent_p.Q77Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	77								p.Q77Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAATGTAGGGCTGTTTAGAGA	0.393																																					p.Q77Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	15						.						139.0	128.0	132.0					15																	54015028		2194	4293	6487	51802320	SO:0001819	synonymous_variant	256764	exon3			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.231G>A	15.37:g.54015028C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51802320	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
UNC13C	440279	broad.mit.edu	37	15	54305931	54305931	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54305931C>A	ENST00000260323.11	+	1	831	c.831C>A	c.(829-831)atC>atA	p.I277I	UNC13C_ENST00000545554.1_Silent_p.I277I|UNC13C_ENST00000537900.1_Silent_p.I277I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	277					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.I277I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCGATGAGATCTCCAGCAGTG	0.438																																					p.I277I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C831A	15						.						109.0	106.0	107.0					15																	54305931		1983	4179	6162	52093223	SO:0001819	synonymous_variant	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.831C>A	15.37:g.54305931C>A		Somatic		Capture	Illumina HiSeq	Phase_I	52093223	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54308027	54308027	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54308027C>T	ENST00000260323.11	+	1	2927	c.2927C>T	c.(2926-2928)gCt>gTt	p.A976V	UNC13C_ENST00000545554.1_Missense_Mutation_p.A976V|UNC13C_ENST00000537900.1_Missense_Mutation_p.A976V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	976					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.A976V(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGAAGCAGCTTTAAGGGCC	0.388																																					p.A976V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2927T	15						.						60.0	58.0	59.0					15																	54308027		1842	4092	5934	52095319	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2927C>T	15.37:g.54308027C>T	ENSP00000260323:p.Ala976Val	Somatic		Capture	Illumina HiSeq	Phase_I	52095319	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050649	0.55218	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82984	-1.67;-1.52;-1.67	5.58	5.58	0.84498	.	.	.	.	.	D	0.85566	0.5726	L	0.29908	0.895	0.54753	D	0.999982	D	0.76494	0.999	D	0.80764	0.994	T	0.80975	-0.1142	9	0.14656	T	0.56	.	18.5586	0.91093	0.0:1.0:0.0:0.0	.	976	Q8NB66	UN13C_HUMAN	V	976	ENSP00000260323:A976V;ENSP00000438156:A976V;ENSP00000442569:A976V	ENSP00000260323:A976V	A	+	2	0	UNC13C	52095319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.782000	0.68973	2.635000	0.89317	0.650000	0.86243	GCT		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54542511	54542511	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54542511C>T	ENST00000260323.11	+	7	3317	c.3317C>T	c.(3316-3318)aCc>aTc	p.T1106I	UNC13C_ENST00000545554.1_Missense_Mutation_p.T1106I|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1104I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1106					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.T1106I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGACGGCTACCACACCCACC	0.493																																					p.T1106I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3317T	15						.						112.0	106.0	108.0					15																	54542511		2111	4267	6378	52329803	SO:0001583	missense	440279	exon6			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3317C>T	15.37:g.54542511C>T	ENSP00000260323:p.Thr1106Ile	Somatic		Capture	Illumina HiSeq	Phase_I	52329803	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562629	0.65538	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92858	-3.12;-3.12;-3.12	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.052862	0.85682	D	0.000000	D	0.90508	0.7026	L	0.49256	1.55	0.58432	D	0.999997	B	0.10296	0.003	B	0.10450	0.005	D	0.86749	0.1959	10	0.87932	D	0	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	1106	Q8NB66	UN13C_HUMAN	I	1106;1106;1104	ENSP00000260323:T1106I;ENSP00000438156:T1106I;ENSP00000442569:T1104I	ENSP00000260323:T1106I	T	+	2	0	UNC13C	52329803	1.000000	0.71417	0.811000	0.32455	0.994000	0.84299	7.800000	0.85949	2.626000	0.88956	0.650000	0.86243	ACC		0.493	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54626054	54626054	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54626054G>T	ENST00000260323.11	+	15	4584	c.4584G>T	c.(4582-4584)aaG>aaT	p.K1528N	UNC13C_ENST00000545554.1_Splice_Site_p.K1528N|UNC13C_ENST00000537900.1_Splice_Site_p.K1526N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1528					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.K1528N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTAGGATGAAGGTATCTCATT	0.368																																					p.K1528N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4584T	15						.						136.0	122.0	126.0					15																	54626054		1853	4077	5930	52413346	SO:0001630	splice_region_variant	440279	exon14			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4584+1G>T	15.37:g.54626054G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52413346	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694776	0.88830	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85013	-1.92;-1.93;-1.92	5.4	5.4	0.78164	.	0.051639	0.85682	D	0.000000	D	0.92267	0.7547	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.991;0.994	D	0.92895	0.6334	10	0.87932	D	0	.	17.0289	0.86455	0.0:0.0:1.0:0.0	.	1528;1528	F5H090;Q8NB66	.;UN13C_HUMAN	N	1528;1528;1526	ENSP00000260323:K1528N;ENSP00000438156:K1528N;ENSP00000442569:K1526N	ENSP00000260323:K1528N	K	+	3	2	UNC13C	52413346	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.722000	0.84778	2.694000	0.91930	0.467000	0.42956	AAG		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Missense_Mutation
UNC13C	440279	broad.mit.edu	37	15	54825226	54825226	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:54825226G>T	ENST00000260323.11	+	25	5658	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	UNC13C_ENST00000545554.1_Missense_Mutation_p.E1886D|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1884D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1886	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E1886D(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGATGCAGAGATTGTGTTAA	0.333																																					p.E1886D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5658T	15						.						79.0	80.0	80.0					15																	54825226		1827	4086	5913	52612518	SO:0001583	missense	440279	exon24			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5658G>T	15.37:g.54825226G>T	ENSP00000260323:p.Glu1886Asp	Somatic		Capture	Illumina HiSeq	Phase_I	52612518	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	4.802	0.149044	0.09185	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	1.0	0.19881	Mammalian uncoordinated homology 13, domain 2 (1);	0.234874	0.42420	D	0.000702	T	0.61887	0.2383	N	0.12502	0.225	0.35369	D	0.788871	P	0.49783	0.928	P	0.50590	0.645	T	0.64394	-0.6418	10	0.02654	T	1	.	10.9267	0.47195	0.3088:0.0:0.6912:0.0	.	1886	Q8NB66	UN13C_HUMAN	D	1886;1886;1884	ENSP00000260323:E1886D;ENSP00000438156:E1886D;ENSP00000442569:E1884D	ENSP00000260323:E1886D	E	+	3	2	UNC13C	52612518	1.000000	0.71417	0.602000	0.28890	0.939000	0.58152	1.874000	0.39568	0.296000	0.22592	-0.367000	0.07326	GAG		0.333	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
RAB27A	5873	broad.mit.edu	37	15	55497851	55497851	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:55497851T>G	ENST00000396307.2	-	6	771	c.520A>C	c.(520-522)Att>Ctt	p.I174L	RAB27A_ENST00000564609.1_Missense_Mutation_p.I174L|RAB27A_ENST00000336787.1_Missense_Mutation_p.I174L|RAB27A_ENST00000569493.1_Missense_Mutation_p.I174L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	174					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I174L(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		AGCATCTCAATTGCTTGGCTT	0.473																																					p.I174L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A520C	15						.						292.0	229.0	250.0					15																	55497851		2193	4292	6485	53285143	SO:0001583	missense	5873	exon6			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.520A>C	15.37:g.55497851T>G	ENSP00000379601:p.Ile174Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53285143	NM_004580	O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.291040	0.59976	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.76060	-0.99;-0.99	5.49	4.36	0.52297	Small GTP-binding protein domain (1);	0.111965	0.64402	D	0.000011	T	0.54415	0.1857	N	0.05574	-0.02	0.47245	D	0.999361	B	0.02656	0.0	B	0.24155	0.051	T	0.51116	-0.8746	10	0.72032	D	0.01	-40.7081	7.8825	0.29631	0.0:0.1587:0.0:0.8413	.	174	P51159	RB27A_HUMAN	L	174;166;174	ENSP00000379601:I174L;ENSP00000337761:I174L	ENSP00000337761:I174L	I	-	1	0	RAB27A	53285143	0.974000	0.33945	0.450000	0.26969	0.995000	0.86356	2.118000	0.41949	0.919000	0.36945	0.533000	0.62120	ATT		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236	
CCPG1	9236	broad.mit.edu	37	15	55651945	55651945	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:55651945C>T	ENST00000310958.6	-	8	2324	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	CCPG1_ENST00000569205.1_Missense_Mutation_p.E676K|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.E676K|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	676					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.E676K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGATCAAGTTCGTTCCAGTGA	0.328																																					p.E676K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2026A	15						.						77.0	70.0	73.0					15																	55651945		1822	4081	5903	53439237	SO:0001583	missense	9236	exon8			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2026G>A	15.37:g.55651945C>T	ENSP00000311656:p.Glu676Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53439237	NM_020739	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402629	0.62288	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.05786	3.4;3.39	5.84	5.84	0.93424	.	0.043349	0.85682	D	0.000000	T	0.25232	0.0613	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.993;0.997	T	0.00031	-1.2279	10	0.87932	D	0	.	19.1261	0.93384	0.0:1.0:0.0:0.0	.	676;676;532	A8K9T0;Q9ULG6;Q9ULG6-2	.;CCPG1_HUMAN;.	K	676	ENSP00000311656:E676K;ENSP00000403400:E676K	ENSP00000311656:E676K	E	-	1	0	DYX1C1	53439237	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.395000	0.79876	2.779000	0.95612	0.655000	0.94253	GAA		0.328	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
PRTG	283659	broad.mit.edu	37	15	56032616	56032616	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56032616C>T	ENST00000561292.1	-	2	519	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	PRTG_ENST00000389286.4_Missense_Mutation_p.A121T					protogenin									p.A121T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTAAGAATGGCTCCATATTTG	0.378																																					p.A121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	15						.						164.0	156.0	159.0					15																	56032616		1884	4113	5997	53819908	SO:0001583	missense	283659	exon2			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.361G>A	15.37:g.56032616C>T	ENSP00000453335:p.Ala121Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53819908	NM_173814		Missense_Mutation	SNP	ENST00000561292.1	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.106322	0.77096	.	.	ENSG00000166450	ENST00000389286	T	0.66815	-0.23	5.66	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.175184	0.35772	U	0.002983	T	0.63780	0.2540	N	0.12853	0.265	0.44789	D	0.997792	D	0.58970	0.984	P	0.59012	0.85	T	0.65187	-0.6229	10	0.32370	T	0.25	-15.4895	15.5845	0.76470	0.0:0.8619:0.1381:0.0	.	121	Q2VWP7	PRTG_HUMAN	T	121	ENSP00000373937:A121T	ENSP00000373937:A121T	A	-	1	0	PRTG	53819908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	1.341000	0.45600	0.650000	0.86243	GCC		0.378	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814	
NEDD4	4734	broad.mit.edu	37	15	56122795	56122795	+	Intron	SNP	G	G	T	rs376503322		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56122795G>T	ENST00000508342.1	-	24	4084				NEDD4_ENST00000338963.2_Intron|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase						adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CTATAAGGAAGAATTTATTTG	0.403																																					.												.	.	0			.	15						.	G	,	0,4386		0,0,2193	114.0	110.0	111.0		,	1.0	0.0	15		111	2,8582	2.2+/-6.3	0,2,4290	no	intron,intron	NEDD4	NM_006154.2,NM_198400.2	,	0,2,6483	TT,TG,GG		0.0233,0.0,0.0154	,	,	56122795	2,12968	2193	4292	6485	53910087	SO:0001627	intron_variant	4734	.			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3785-11C>A	15.37:g.56122795G>T		Somatic		Capture	Illumina HiSeq	Phase_I	53910087	.	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Intron	SNP	ENST00000508342.1	37																																																																																					0.403	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56140591	56140591	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56140591C>A	ENST00000508342.1	-	13	3077	c.2778G>T	c.(2776-2778)gaG>gaT	p.E926D	NEDD4_ENST00000338963.2_Missense_Mutation_p.E854D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E507D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E910D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	926	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.E854D(1)|p.E507D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGCTACATTCTCCAACCGAG	0.398																																					p.E507D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1521T	15						.						221.0	192.0	202.0					15																	56140591		2193	4292	6485	53927883	SO:0001583	missense	4734	exon17			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2778G>T	15.37:g.56140591C>A	ENSP00000424827:p.Glu926Asp	Somatic		Capture	Illumina HiSeq	Phase_I	53927883	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.759333|2.759333	0.49468|0.49468	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.20332|.	2.08;2.13;2.08;2.08|.	5.76|5.76	2.86|2.86	0.33363|0.33363	WW/Rsp5/WWP (2);|.	0.247105|.	0.41001|.	D|.	0.000977|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.27053|0.27053	0.805|0.805	0.26441|0.26441	N|N	0.975775|0.975775	B;B;B;B|.	0.22211|.	0.066;0.03;0.018;0.014|.	B;B;B;B|.	0.25614|.	0.022;0.062;0.017;0.023|.	T|T	0.18429|0.18429	-1.0337|-1.0337	10|5	0.33141|.	T|.	0.24|.	.|.	8.7873|8.7873	0.34830|0.34830	0.0:0.7189:0.0:0.2811|0.0:0.7189:0.0:0.2811	.|.	910;507;926;854|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	D|I	926;507;854;910|517	ENSP00000424827:E926D;ENSP00000410613:E507D;ENSP00000345530:E854D;ENSP00000422705:E910D|.	ENSP00000345530:E854D|.	E|R	-|-	3|2	2|0	NEDD4|NEDD4	53927883|53927883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.000000|2.000000	0.40816|0.40816	1.443000|1.443000	0.47586|0.47586	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.398	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56155152	56155152	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56155152G>T	ENST00000508342.1	-	5	2189	c.1890C>A	c.(1888-1890)aaC>aaA	p.N630K	NEDD4_ENST00000338963.2_Missense_Mutation_p.N558K|NEDD4_ENST00000435532.3_Missense_Mutation_p.N211K|NEDD4_ENST00000506154.1_Missense_Mutation_p.N614K	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	630	Mediates interaction with TNIK. {ECO:0000250}.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.N558K(1)|p.N211K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAGATTCATGGTTTACATAAT	0.428																																					p.N211K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C633A	15						.						248.0	227.0	234.0					15																	56155152		2193	4292	6485	53942444	SO:0001583	missense	4734	exon9			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1890C>A	15.37:g.56155152G>T	ENSP00000424827:p.Asn630Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53942444	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.966590|3.966590	0.74131|0.74131	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	D;D;D;D|.	0.92149|.	-2.98;-2.98;-2.98;-2.98|.	5.56|5.56	4.64|4.64	0.57946|0.57946	WW/Rsp5/WWP (6);|.	0.387826|.	0.32518|.	N|.	0.005987|.	T|T	0.82185|0.82185	0.4982|0.4982	H|H	0.96576|0.96576	3.845|3.845	0.50813|0.50813	D|D	0.999899|0.999899	D;D;D;D|.	0.71674|.	0.993;0.989;0.998;0.992|.	P;D;D;D|.	0.74348|.	0.84;0.923;0.983;0.933|.	D|D	0.84749|0.84749	0.0755|0.0755	10|5	0.87932|.	D|.	0|.	.|.	5.9817|5.9817	0.19411|0.19411	0.2396:0.0:0.7604:0.0|0.2396:0.0:0.7604:0.0	.|.	614;211;630;558|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	K|N	630;211;558;614|221	ENSP00000424827:N630K;ENSP00000410613:N211K;ENSP00000345530:N558K;ENSP00000422705:N614K|.	ENSP00000345530:N558K|.	N|T	-|-	3|2	2|0	NEDD4|NEDD4	53942444|53942444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.223000|2.223000	0.42936|0.42936	2.610000|2.610000	0.88304|0.88304	0.557000|0.557000	0.71058|0.71058	AAC|ACC		0.428	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
RFX7	64864	broad.mit.edu	37	15	56388382	56388382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56388382G>A	ENST00000559447.2	-	9	1524	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	RFX7_ENST00000317318.6_Missense_Mutation_p.S515F|RFX7_ENST00000423270.1_Missense_Mutation_p.S515F|RFX7_ENST00000422057.1_Missense_Mutation_p.S418F			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	418					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S418F(1)|p.S515F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGACACGACAGAACCATTCTT	0.507																																					p.S515F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1544T	15						.						98.0	97.0	98.0					15																	56388382		2053	4194	6247	54175674	SO:0001583	missense	64864	exon9					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1253C>T	15.37:g.56388382G>A	ENSP00000453281:p.Ser418Phe	Somatic		Capture	Illumina HiSeq	Phase_I	54175674	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.964703	0.74131	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60672	0.18;0.17;0.18	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	T	0.66208	0.2766	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.995;0.997	T	0.70517	-0.4850	10	0.87932	D	0	-14.0671	18.3717	0.90409	0.0:0.0:1.0:0.0	.	418;418	Q2KHR2;C9JU50	RFX7_HUMAN;.	F	418;515;515	ENSP00000387504:S418F;ENSP00000313299:S515F;ENSP00000397644:S515F	ENSP00000313299:S515F	S	-	2	0	RFX7	54175674	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.603000	0.90871	2.578000	0.87016	0.655000	0.94253	TCT		0.507	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
TEX9	374618	broad.mit.edu	37	15	56657648	56657648	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56657648G>T	ENST00000352903.2	+	0	24				TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000561221.2_5'UTR|TEX9_ENST00000537232.1_5'UTR	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9											cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AGTCGCCGAAGATGGCGGGGC	0.632																																					.												.	.	0			.	15						.						46.0	44.0	45.0					15																	56657648		2193	4292	6485	54444940	SO:0001623	5_prime_UTR_variant	374618	.			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.-1G>T	15.37:g.56657648G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54444940	.	B4DH73	5'UTR	SNP	ENST00000352903.2	37	CCDS10157.1																																																																																				0.632	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	
MNS1	55329	broad.mit.edu	37	15	56735675	56735675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:56735675C>A	ENST00000260453.3	-	7	1128	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	322	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.E322*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGGTATAATTCTTGTCGCACT	0.294																																					p.E322X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G964T	15						.						132.0	125.0	128.0					15																	56735675		2192	4291	6483	54522967	SO:0001587	stop_gained	55329	exon7			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.964G>T	15.37:g.56735675C>A	ENSP00000260453:p.Glu322*	Somatic		Capture	Illumina HiSeq	Phase_I	54522967	NM_018365	Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	38	6.956322	0.97964	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.76	5.76	0.90799	.	0.045312	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-24.5326	17.1229	0.86706	0.0:1.0:0.0:0.0	.	.	.	.	X	322	.	ENSP00000260453:E322X	E	-	1	0	MNS1	54522967	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	6.658000	0.74407	2.693000	0.91896	0.637000	0.83480	GAA		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
CGNL1	84952	broad.mit.edu	37	15	57731224	57731224	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:57731224C>T	ENST00000281282.5	+	2	1105	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	343	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.R343W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAACTGGACGGGATATTGA	0.438																																					p.R343W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1027T	15						.						54.0	53.0	53.0					15																	57731224		2192	4292	6484	55518516	SO:0001583	missense	84952	exon2			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1027C>T	15.37:g.57731224C>T	ENSP00000281282:p.Arg343Trp	Somatic		Capture	Illumina HiSeq	Phase_I	55518516	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800404	0.70567	.	.	ENSG00000128849	ENST00000281282	T	0.58940	0.3	5.79	2.48	0.30137	.	0.000000	0.46758	D	0.000268	T	0.71904	0.3395	M	0.62723	1.935	0.43745	D	0.996249	D	0.89917	1.0	D	0.91635	0.999	T	0.77273	-0.2649	10	0.87932	D	0	-40.6211	14.9651	0.71184	0.3763:0.6237:0.0:0.0	.	343	Q0VF96	CGNL1_HUMAN	W	343	ENSP00000281282:R343W	ENSP00000281282:R343W	R	+	1	2	CGNL1	55518516	0.699000	0.27786	1.000000	0.80357	0.986000	0.74619	1.390000	0.34464	1.357000	0.45904	0.655000	0.94253	CGG		0.438	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
CGNL1	84952	broad.mit.edu	37	15	57809130	57809130	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:57809130C>T	ENST00000281282.5	+	9	2634	c.2556C>T	c.(2554-2556)atC>atT	p.I852I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	852						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.I852I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGGCAGATCGAGGACCTGA	0.577																																					p.I852I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2556T	15						.						61.0	55.0	57.0					15																	57809130		2192	4292	6484	55596422	SO:0001819	synonymous_variant	84952	exon9			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2556C>T	15.37:g.57809130C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55596422	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	CCDS10161.1																																																																																				0.577	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
MYZAP	100820829	broad.mit.edu	37	15	57931724	57931724	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:57931724T>G	ENST00000267853.5	+	10	1194	c.1100T>G	c.(1099-1101)gTc>gGc	p.V367G	GCOM1_ENST00000574161.1_Missense_Mutation_p.V367G|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.V367G|GCOM1_ENST00000380569.2_Missense_Mutation_p.V367G|GCOM1_ENST00000396180.1_Missense_Mutation_p.V336G|GCOM1_ENST00000380561.2_Missense_Mutation_p.V336G|GCOM1_ENST00000380568.3_Missense_Mutation_p.V367G|GCOM1_ENST00000380560.2_Missense_Mutation_p.V298G|GCOM1_ENST00000572390.1_Missense_Mutation_p.V367G|MYZAP_ENST00000380565.4_Missense_Mutation_p.V367G			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	367					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.V367G(1)									CAGAAGAAAGTCAAGCAGATG	0.542																																					p.V367G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1100G	15						.						97.0	87.0	90.0					15																	57931724		2192	4292	6484	55719016	SO:0001583	missense	145781	exon10			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1100T>G	15.37:g.57931724T>G	ENSP00000267853:p.Val367Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55719016	NM_152451	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229078	0.79688	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.65	5.65	0.86999	.	0.060143	0.64402	D	0.000003	T	0.61714	0.2369	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65730	-0.6097	10	0.62326	D	0.03	-15.6223	14.8587	0.70362	0.0:0.0:0.0:1.0	.	367;367;367;367	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	G	367;336;336;298;367;367;367;82	ENSP00000369943:V367G;ENSP00000369935:V336G;ENSP00000379483:V336G;ENSP00000369933:V298G;ENSP00000267853:V367G;ENSP00000369939:V367G;ENSP00000369942:V367G;ENSP00000431396:V82G	ENSP00000267853:V367G	V	+	2	0	GCOM1	55719016	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.045000	0.76585	2.153000	0.67306	0.528000	0.53228	GTC		0.542	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
POLR2M	81488	broad.mit.edu	37	15	58006854	58006854	+	Missense_Mutation	SNP	G	G	A	rs113738650	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:58006854G>A	ENST00000299638.3	+	4	1298	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.D759N|GCOM1_ENST00000380569.2_Missense_Mutation_p.D544N|GCOM1_ENST00000380568.3_3'UTR|POLR2M_ENST00000380557.4_Missense_Mutation_p.D205N	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	362					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)	p.D544N(1)|p.D362N(1)									TGAAGATGACGATTGGTCCTC	0.388													G|||	77	0.0153754	0.0129	0.0014	5008	,	,		19370	0.0575		0.0	False		,,,				2504	0.001				p.D205N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G613A	15						.	G	ASN/ASP,,ASN/ASP,ASN/ASP	19,4345	25.3+/-52.1	0,19,2163	41.0	43.0	42.0		1630,,613,1084	4.4	0.1	15	dbSNP_132	42	1,8545	1.2+/-3.3	0,1,4272	no	missense,utr-3,missense,missense	GRINL1A,GCOM1	NM_001018090.3,NM_001018091.3,NM_001018102.1,NM_015532.3	23,,23,23	0,20,6435	AA,AG,GG		0.0117,0.4354,0.1549	benign,,benign,benign	544/551,,205/212,362/369	58006854	20,12890	2182	4273	6455	55794146	SO:0001583	missense	145781	exon4			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.1084G>A	15.37:g.58006854G>A	ENSP00000299638:p.Asp362Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55794146	NM_001018102	Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	CCDS32252.1	35	0.016025641025641024	6	0.012195121951219513	1	0.0027624309392265192	28	0.04895104895104895	0	0.0	G	10.94	1.493982	0.26774	0.004354	1.17E-4	ENSG00000137878;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000299638;ENST00000380557	T	0.21932	1.98	5.41	4.44	0.53790	.	0.790369	0.11712	N	0.536830	T	0.03651	0.0104	N	0.22421	0.69	0.40855	D	0.983788	P;D;P	0.57899	0.813;0.981;0.456	B;P;B	0.50405	0.062;0.64;0.081	T	0.03662	-1.1015	10	0.28530	T	0.3	-2.2309	15.0464	0.71830	0.0:0.0:0.858:0.142	.	205;362;544	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	N	544;362;205	ENSP00000369943:D544N	ENSP00000369943:D544N	D	+	1	0	GCOM1;GRINL1A	55794146	0.028000	0.19301	0.059000	0.19551	0.701000	0.40568	1.772000	0.38552	2.709000	0.92574	0.655000	0.94253	GAT		0.388	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2		
ALDH1A2	8854	broad.mit.edu	37	15	58306155	58306155	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:58306155G>T	ENST00000249750.4	-	3	1031	c.264C>A	c.(262-264)ttC>ttA	p.F88L	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.F67L|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.F88L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.F59L|ALDH1A2_ENST00000559517.1_5'UTR	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	88					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.F88L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AACCAAGAGAGAAAGCCAGGC	0.498																																					p.F88L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C264A	15						.						214.0	232.0	226.0					15																	58306155		2192	4292	6484	56093447	SO:0001583	missense	8854	exon3			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.264C>A	15.37:g.58306155G>T	ENSP00000249750:p.Phe88Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56093447	NM_170696	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781710	0.49891	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.18657	2.2;2.2;2.2	4.69	2.65	0.31530	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.58583	1.82	0.58432	D	0.999997	D;D;D;D	0.89917	0.987;0.994;1.0;1.0	P;P;D;D	0.97110	0.852;0.77;0.999;1.0	T	0.12268	-1.0554	10	0.87932	D	0	.	4.3172	0.10998	0.4511:0.0:0.5489:0.0	.	59;67;88;88	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	L	88;59;88;67	ENSP00000249750:F88L;ENSP00000309623:F88L;ENSP00000438296:F67L	ENSP00000249750:F88L	F	-	3	2	ALDH1A2	56093447	1.000000	0.71417	0.999000	0.59377	0.023000	0.10783	2.038000	0.41184	1.193000	0.43086	-0.150000	0.13652	TTC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
AQP9	366	broad.mit.edu	37	15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T	rs370192849		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:58458911C>T	ENST00000219919.4	+	2	521	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AQP9_ENST00000558772.1_5'UTR|AQP9_ENST00000536493.1_Nonsense_Mutation_p.R51*|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	51					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R51*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468																																					p.R51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C151T	15						.						265.0	236.0	246.0					15																	58458911		2192	4292	6484	56246203	SO:0001587	stop_gained	366	exon2			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.151C>T	15.37:g.58458911C>T	ENSP00000219919:p.Arg51*	Somatic		Capture	Illumina HiSeq	Phase_I	56246203	NM_020980	Q9NP32	Nonsense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038314	0.75617	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	.	.	.	4.76	3.84	0.44239	.	0.091897	0.46758	D	0.000267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.71	7.9296	0.29895	0.1837:0.6388:0.1774:0.0	.	.	.	.	X	51	.	ENSP00000219919:R51X	R	+	1	2	AQP9	56246203	0.946000	0.32159	1.000000	0.80357	0.104000	0.19210	0.578000	0.23773	1.213000	0.43380	0.561000	0.74099	CGA		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980	
AQP9	366	broad.mit.edu	37	15	58476186	58476186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:58476186C>A	ENST00000219919.4	+	6	1110	c.740C>A	c.(739-741)cCt>cAt	p.P247H	AQP9_ENST00000558772.1_Missense_Mutation_p.P182H|AQP9_ENST00000536493.1_Missense_Mutation_p.P247H|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	247					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.P247H(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGTGGATTCCTGTAGTGGGC	0.433																																					p.P247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740A	15						.						177.0	180.0	179.0					15																	58476186		2192	4292	6484	56263478	SO:0001583	missense	366	exon6			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.740C>A	15.37:g.58476186C>A	ENSP00000219919:p.Pro247His	Somatic		Capture	Illumina HiSeq	Phase_I	56263478	NM_020980	Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023114	0.75275	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.14640	2.49;2.49	5.84	5.84	0.93424	Aquaporin-like (2);	0.000000	0.64402	D	0.000001	T	0.61527	0.2354	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79443	-0.1801	10	0.87932	D	0	.	19.7341	0.96195	0.0:1.0:0.0:0.0	.	247	O43315	AQP9_HUMAN	H	247	ENSP00000219919:P247H;ENSP00000441390:P247H	ENSP00000219919:P247H	P	+	2	0	AQP9	56263478	1.000000	0.71417	0.899000	0.35326	0.458000	0.32498	7.122000	0.77169	2.764000	0.94973	0.655000	0.94253	CCT		0.433	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980	
LIPC	3990	broad.mit.edu	37	15	58834828	58834828	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:58834828G>A	ENST00000356113.6	+	6	1167	c.552G>A	c.(550-552)acG>acA	p.T184T	LIPC_ENST00000433326.2_Silent_p.T123T|LIPC_ENST00000299022.5_Silent_p.T184T|LIPC_ENST00000414170.3_Silent_p.T184T			P11150	LIPC_HUMAN	lipase, hepatic	184	Heparin-binding. {ECO:0000255}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.T184T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCGGTGGAACGCACAAGATTG	0.512																																					p.T184T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G552A	15						.						183.0	155.0	164.0					15																	58834828		2192	4292	6484	56622120	SO:0001819	synonymous_variant	3990	exon4				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.552G>A	15.37:g.58834828G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56622120	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.512	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
SLTM	79811	broad.mit.edu	37	15	59182491	59182491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:59182491G>A	ENST00000380516.2	-	15	2155	c.2068C>T	c.(2068-2070)Cgt>Tgt	p.R690C	SLTM_ENST00000536328.1_Missense_Mutation_p.R259C|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	690	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R690C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTTCAATACGAATGCGTTCC	0.408																																					p.R690C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2068T	15						.						143.0	146.0	145.0					15																	59182491		2192	4291	6483	56969783	SO:0001583	missense	79811	exon15			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2068C>T	15.37:g.59182491G>A	ENSP00000369887:p.Arg690Cys	Somatic		Capture	Illumina HiSeq	Phase_I	56969783	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791485	0.70452	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.24538	1.85	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000024	T	0.53206	0.1782	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.51482	-0.8700	10	0.87932	D	0	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	690;259	Q9NWH9;A8K5V8	SLTM_HUMAN;.	C	690;256;259	ENSP00000369887:R690C	ENSP00000369887:R690C	R	-	1	0	SLTM	56969783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.727000	0.91480	2.777000	0.95525	0.655000	0.94253	CGT		0.408	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
SLTM	79811	broad.mit.edu	37	15	59186172	59186172	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:59186172A>G	ENST00000380516.2	-	12	1583	c.1496T>C	c.(1495-1497)gTc>gCc	p.V499A	SLTM_ENST00000536328.1_Missense_Mutation_p.V68A|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	499					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V499A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTTTTTTGACAGAGGCTTG	0.333																																					p.V499A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1496C	15						.						91.0	86.0	88.0					15																	59186172		2192	4292	6484	56973464	SO:0001583	missense	79811	exon12			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1496T>C	15.37:g.59186172A>G	ENSP00000369887:p.Val499Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56973464	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692552	0.30052	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D	0.88896	-2.44	5.46	4.12	0.48240	.	0.463174	0.18111	N	0.151358	T	0.75744	0.3891	N	0.14661	0.345	0.23162	N	0.99819	B;B	0.13594	0.008;0.006	B;B	0.16289	0.011;0.015	T	0.58194	-0.7679	10	0.08837	T	0.75	.	8.6072	0.33780	0.8643:0.0:0.1357:0.0	.	499;68	Q9NWH9;A8K5V8	SLTM_HUMAN;.	A	499;92;68;481	ENSP00000369887:V499A	ENSP00000249736:V481A	V	-	2	0	SLTM	56973464	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.410000	0.44592	2.059000	0.61396	0.528000	0.53228	GTC		0.333	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
FAM81A	145773	broad.mit.edu	37	15	59801066	59801066	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:59801066C>A	ENST00000288228.5	+	6	735	c.548C>A	c.(547-549)tCt>tAt	p.S183Y		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	183								p.S180Y(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TTCCAGATTTCTCAGCTTTTG	0.383																																					p.S183Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548A	15						.						74.0	67.0	69.0					15																	59801066		1821	4068	5889	57588358	SO:0001583	missense	145773	exon6				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.548C>A	15.37:g.59801066C>A	ENSP00000288228:p.Ser183Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57588358	NM_152450		Missense_Mutation	SNP	ENST00000288228.5	37	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691518	0.68271	.	.	ENSG00000157470	ENST00000288228	T	0.30714	1.52	5.73	4.76	0.60689	.	0.088474	0.50627	D	0.000118	T	0.38904	0.1058	L	0.43152	1.355	0.40962	D	0.984633	P	0.51537	0.946	P	0.53809	0.735	T	0.14337	-1.0476	10	0.54805	T	0.06	-7.4057	13.6915	0.62549	0.0:0.8459:0.1541:0.0	.	183	Q8TBF8	FA81A_HUMAN	Y	183	ENSP00000288228:S183Y	ENSP00000288228:S183Y	S	+	2	0	FAM81A	57588358	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.142000	0.50601	2.714000	0.92807	0.561000	0.74099	TCT		0.383	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450	
GCNT3	9245	broad.mit.edu	37	15	59911395	59911395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:59911395G>T	ENST00000396065.1	+	3	1406	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.E320*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	320					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.E320*(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAACTGATTGAATGGGTAAA	0.473																																					p.E320X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G958T	15						.						136.0	136.0	136.0					15																	59911395		2190	4290	6480	57698687	SO:0001587	stop_gained	9245	exon3			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.958G>T	15.37:g.59911395G>T	ENSP00000379377:p.Glu320*	Somatic		Capture	Illumina HiSeq	Phase_I	57698687	NM_004751		Nonsense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	43	10.243155	0.99367	.	.	ENSG00000140297	ENST00000396065	.	.	.	5.52	5.52	0.82312	.	0.116020	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000379377:E320X	E	+	1	0	GCNT3	57698687	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	9.753000	0.98904	2.595000	0.87683	0.655000	0.94253	GAA		0.473	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
RORA	6095	broad.mit.edu	37	15	60795746	60795746	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:60795746G>T	ENST00000335670.6	-	7	1163	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	RORA_ENST00000261523.5_Missense_Mutation_p.L388I|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L300I|RORA_ENST00000309157.4_Missense_Mutation_p.L380I|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	355	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L388I(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCTTTTAGAAGCACAATTTGA	0.393																																					p.L355I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063A	15						.						122.0	102.0	109.0					15																	60795746		2203	4300	6503	58583038	SO:0001583	missense	6095	exon7			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1063C>A	15.37:g.60795746G>T	ENSP00000335087:p.Leu355Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58583038	NM_134261	P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872705	0.91587	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71	6.08	6.08	0.98989	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.998;0.998	D	0.97174	0.9846	10	0.66056	D	0.02	.	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	355;380;388;300	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	I	355;300;380;388	ENSP00000335087:L355I;ENSP00000402971:L300I;ENSP00000309753:L380I;ENSP00000261523:L388I	ENSP00000261523:L388I	L	-	1	0	RORA	58583038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.061000	0.89467	2.894000	0.99253	0.655000	0.94253	CTT		0.393	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2		
VPS13C	54832	broad.mit.edu	37	15	62173095	62173095	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:62173095C>T	ENST00000261517.5	-	72	9908	c.9835G>A	c.(9835-9837)Gct>Act	p.A3279T	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3236T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3279T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A3236T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.A3279T(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAATAATAGCTCCTAGAAAC	0.308																																					p.A3236T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9706A	15						.						57.0	62.0	60.0					15																	62173095		2202	4300	6502	59960387	SO:0001583	missense	54832	exon70			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9835G>A	15.37:g.62173095C>T	ENSP00000261517:p.Ala3279Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59960387	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.090080	0.76756	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.81908	-1.55;-1.55;-1.55	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.993	D;D;D;D	0.87578	0.97;0.996;0.998;0.934	D	0.91773	0.5429	10	0.87932	D	0	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	3236;3279;3236;3279	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	3236;3279;3279;3279	ENSP00000249837:A3236T;ENSP00000261517:A3279T;ENSP00000379233:A3279T	ENSP00000249837:A3236T	A	-	1	0	VPS13C	59960387	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	7.480000	0.81109	2.664000	0.90586	0.650000	0.86243	GCT		0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62250897	62250897	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:62250897C>A	ENST00000261517.5	-	37	4148	c.4075G>T	c.(4075-4077)Gat>Tat	p.D1359Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1316Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1359Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1316Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.D1359Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGATTAAGATCTTCTTGATTT	0.279																																					p.D1316Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3946T	15						.						103.0	107.0	106.0					15																	62250897		2203	4298	6501	60038189	SO:0001583	missense	54832	exon35			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4075G>T	15.37:g.62250897C>A	ENSP00000261517:p.Asp1359Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	60038189	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977387	0.74360	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.37584	1.19;1.19;1.19;2.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	0.998;0.995;1.0;1.0	D;P;D;D	0.91635	0.947;0.897;0.999;0.999	T	0.54990	-0.8210	10	0.66056	D	0.02	.	16.2645	0.82568	0.0:1.0:0.0:0.0	.	1316;1359;1316;1359	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	1316;1359;1359;1359	ENSP00000249837:D1316Y;ENSP00000261517:D1359Y;ENSP00000379233:D1359Y;ENSP00000379235:D1359Y	ENSP00000249837:D1316Y	D	-	1	0	VPS13C	60038189	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.217000	0.51184	2.682000	0.91365	0.467000	0.42956	GAT		0.279	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
USP3	9960	broad.mit.edu	37	15	63866324	63866324	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:63866324G>A	ENST00000380324.3	+	10	1117	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	USP3_ENST00000539772.1_Missense_Mutation_p.E81K|USP3_ENST00000540797.1_Missense_Mutation_p.E286K|USP3_ENST00000559711.1_Missense_Mutation_p.E241K|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.E313K|USP3_ENST00000268049.7_Missense_Mutation_p.E308K|USP3_ENST00000536001.1_3'UTR	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	330	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E330K(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGTGGGACAGAATCTAGAAA	0.333																																					p.E330K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	15						.						103.0	99.0	100.0					15																	63866324		2203	4300	6503	61653377	SO:0001583	missense	9960	exon10			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.988G>A	15.37:g.63866324G>A	ENSP00000369681:p.Glu330Lys	Somatic		Capture	Illumina HiSeq	Phase_I	61653377	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	36	5.921275	0.97105	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	6.07	6.07	0.98685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	N	0.20304	0.555	0.80722	D	1	D;D;D;D	0.58620	0.979;0.983;0.983;0.983	P;P;P;P	0.58013	0.74;0.831;0.831;0.831	T	0.02156	-1.1204	10	0.07175	T	0.84	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	286;286;308;330	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	K	286;330;308;81;245;161	ENSP00000445828:E286K;ENSP00000369681:E330K;ENSP00000268049:E308K;ENSP00000445642:E81K	ENSP00000268049:E308K	E	+	1	0	USP3	61653377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.333	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
USP3	9960	broad.mit.edu	37	15	63880634	63880634	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:63880634A>T	ENST00000380324.3	+	12	1344				USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000559711.1_Intron|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558218.1_Intron|USP3_ENST00000558285.1_Intron|USP3_ENST00000268049.7_Intron|USP3-AS1_ENST00000561256.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TGAGTGTTGAATTTTGAGTTA	0.333																																					.												.	.	0			.	15						.						55.0	57.0	56.0					15																	63880634		2201	4299	6500	61667687	SO:0001627	intron_variant	9960	.			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1215+12A>T	15.37:g.63880634A>T		Somatic		Capture	Illumina HiSeq	Phase_I	61667687	.	B4DVU5|F5H1A6|Q8WVD0	Intron	SNP	ENST00000380324.3	37	CCDS32265.1																																																																																				0.333	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
USP3	9960	broad.mit.edu	37	15	63880997	63880997	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:63880997A>G	ENST00000380324.3	+	13	1441	c.1312A>G	c.(1312-1314)Aaa>Gaa	p.K438E	USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.K189E|USP3_ENST00000540797.1_Missense_Mutation_p.K394E|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.K349E|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000558285.1_Missense_Mutation_p.K421E|USP3_ENST00000268049.7_Missense_Mutation_p.K416E|USP3-AS1_ENST00000561256.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	438	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K438E(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTAGACATGAAATGCTACTT	0.383																																					p.K438E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1312G	15						.						125.0	125.0	125.0					15																	63880997		2203	4300	6503	61668050	SO:0001583	missense	9960	exon13			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1312A>G	15.37:g.63880997A>G	ENSP00000369681:p.Lys438Glu	Somatic		Capture	Illumina HiSeq	Phase_I	61668050	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186292	0.57909	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.041216	0.85682	D	0.000000	T	0.26085	0.0636	L	0.41710	1.295	0.58432	D	0.99999	B;P;P;P	0.35527	0.307;0.507;0.507;0.507	B;B;B;B	0.37731	0.167;0.186;0.253;0.257	T	0.02958	-1.1089	10	0.06625	T	0.88	.	15.7316	0.77810	1.0:0.0:0.0:0.0	.	394;394;416;438	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	E	394;438;416;189;353;269	ENSP00000445828:K394E;ENSP00000369681:K438E;ENSP00000268049:K416E;ENSP00000445642:K189E	ENSP00000268049:K416E	K	+	1	0	USP3	61668050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.179000	0.69175	0.533000	0.62120	AAA		0.383	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
HERC1	8925	broad.mit.edu	37	15	63953993	63953993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:63953993G>T	ENST00000443617.2	-	45	9216	c.9129C>A	c.(9127-9129)taC>taA	p.Y3043*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3043					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Y3043*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATGGCTAAGTACTTCTCCC	0.453																																					p.Y3043X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C9129A	15						.						182.0	174.0	177.0					15																	63953993		2027	4187	6214	61741046	SO:0001587	stop_gained	8925	exon45			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9129C>A	15.37:g.63953993G>T	ENSP00000390158:p.Tyr3043*	Somatic		Capture	Illumina HiSeq	Phase_I	61741046	NM_003922	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	50	16.520397	0.99865	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.78	4.77	0.60923	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8379	0.40980	0.1802:0.0:0.8198:0.0	.	.	.	.	X	3043	.	ENSP00000390158:Y3043X	Y	-	3	2	HERC1	61741046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.707000	0.54838	2.714000	0.92807	0.650000	0.86243	TAC		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	64041912	64041912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:64041912C>A	ENST00000443617.2	-	9	2068	c.1981G>T	c.(1981-1983)Gaa>Taa	p.E661*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	661					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E661*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAGCCAGTTCTTCAATAAGC	0.388																																					p.E661X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1981T	15						.						41.0	38.0	39.0					15																	64041912		1865	4112	5977	61828965	SO:0001587	stop_gained	8925	exon9			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1981G>T	15.37:g.64041912C>A	ENSP00000390158:p.Glu661*	Somatic		Capture	Illumina HiSeq	Phase_I	61828965	NM_003922	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	42	9.215760	0.99103	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	.	.	.	X	661	.	ENSP00000390158:E661X	E	-	1	0	HERC1	61828965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.718000	0.92993	0.650000	0.86243	GAA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
SNX1	6642	broad.mit.edu	37	15	64404818	64404818	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:64404818A>T	ENST00000559844.1	+	2	220	c.206A>T	c.(205-207)aAc>aTc	p.N69I	SNX1_ENST00000261889.5_Missense_Mutation_p.N69I|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.N69I|Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000561026.1_Missense_Mutation_p.N69I			Q13596	SNX1_HUMAN	sorting nexin 1	69					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.N69I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTTCCCATCAACAATGGCTCC	0.398																																					p.N69I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A206T	15						.						103.0	95.0	97.0					15																	64404818		2203	4300	6503	62191871	SO:0001583	missense	6642	exon2			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.206A>T	15.37:g.64404818A>T	ENSP00000453785:p.Asn69Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62191871	NM_148955	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384495	0.42308	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.48201	0.82;0.82;0.82	5.7	-1.09	0.09904	.	0.786929	0.12619	N	0.453188	T	0.28732	0.0712	N	0.14661	0.345	0.23320	N	0.997913	B;B;B;B	0.18968	0.002;0.032;0.017;0.0	B;B;B;B	0.34489	0.014;0.015;0.184;0.003	T	0.34800	-0.9814	10	0.31617	T	0.26	-9.7119	4.7333	0.12975	0.3897:0.3393:0.271:0.0	.	69;69;69;69	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	I	69	ENSP00000369638:N69I;ENSP00000326668:N69I;ENSP00000261889:N69I	ENSP00000261889:N69I	N	+	2	0	SNX1	62191871	0.012000	0.17670	0.994000	0.49952	0.978000	0.69477	-0.454000	0.06770	0.090000	0.17273	0.459000	0.35465	AAC		0.398	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
SNX22	79856	broad.mit.edu	37	15	64445516	64445516	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:64445516G>T	ENST00000325881.4	+	4	396	c.337G>T	c.(337-339)Gac>Tac	p.D113Y		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	113	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.D113Y(1)		large_intestine(3)|lung(1)|urinary_tract(2)	6						CTTCCCCACAGACCCCAAGGC	0.607																																					p.D113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	15						.						42.0	43.0	43.0					15																	64445516		2203	4300	6503	62232569	SO:0001583	missense	79856	exon4			AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.337G>T	15.37:g.64445516G>T	ENSP00000323435:p.Asp113Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62232569	NM_024798	Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565837	0.45694	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.31247	1.5	5.51	5.51	0.81932	Phox homologous domain (3);	0.258733	0.43260	D	0.000588	T	0.50701	0.1631	L	0.50333	1.59	0.34011	D	0.651425	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.831	T	0.61407	-0.7069	10	0.59425	D	0.04	-20.7863	16.1228	0.81373	0.0:0.0:1.0:0.0	.	113;85	Q96L94;Q6ZTF9	SNX22_HUMAN;.	Y	85;113	ENSP00000323435:D113Y	ENSP00000323435:D113Y	D	+	1	0	SNX22	62232569	0.729000	0.28090	0.548000	0.28192	0.004000	0.04260	4.131000	0.57970	2.586000	0.87340	0.561000	0.74099	GAC		0.607	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798	
CSNK1G1	53944	broad.mit.edu	37	15	64499737	64499737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:64499737G>A	ENST00000303052.7	-	7	1159	c.736C>T	c.(736-738)Cga>Tga	p.R246*	CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R246*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R228*|CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R246*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R246*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AGGCTGCCTCGAAGGAAATAC	0.453																																					p.R246X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C736T	15						.						90.0	81.0	84.0					15																	64499737		2203	4300	6503	62286790	SO:0001587	stop_gained	53944	exon7			AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.736C>T	15.37:g.64499737G>A	ENSP00000305777:p.Arg246*	Somatic		Capture	Illumina HiSeq	Phase_I	62286790	NM_022048	Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	41	8.875170	0.98986	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	246;202;246	.	ENSP00000307753:R246X	R	-	1	2	CSNK1G1	62286790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.694000	0.74587	2.824000	0.97209	0.655000	0.94253	CGA		0.453	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048	
TRIP4	9325	broad.mit.edu	37	15	64692976	64692976	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:64692976G>A	ENST00000261884.3	+	5	713	c.653G>A	c.(652-654)cGt>cAt	p.R218H	RN7SL595P_ENST00000582065.1_RNA|TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	218					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R218H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATTTTACAGCGTGACTCAAAC	0.383																																					p.R218H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	15						.						98.0	94.0	96.0					15																	64692976		2203	4300	6503	62480029	SO:0001583	missense	9325	exon5			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.653G>A	15.37:g.64692976G>A	ENSP00000261884:p.Arg218His	Somatic		Capture	Illumina HiSeq	Phase_I	62480029	NM_016213	B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288889	0.95517	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.51	5.51	0.81932	Zinc finger, C2HC5-type (1);	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.75803	-0.3189	9	0.62326	D	0.03	-2.0805	17.9747	0.89123	0.0:0.0:1.0:0.0	.	218	Q15650	TRIP4_HUMAN	H	218	.	ENSP00000261884:R218H	R	+	2	0	TRIP4	62480029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.746000	0.94184	0.591000	0.81541	CGT		0.383	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213	
CLPX	10845	broad.mit.edu	37	15	65444880	65444880	+	Intron	SNP	G	G	T	rs369530341		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:65444880G>T	ENST00000300107.3	-	13	1893					NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit						ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTTCCTAAAGAAATAAAAAG	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.	G		1,4403	2.1+/-5.4	0,1,2201	75.0	72.0	73.0			-1.4	0.0	15		73	0,8594		0,0,4297	no	intron	CLPX	NM_006660.3		0,1,6498	TT,TG,GG		0.0,0.0227,0.0077			65444880	1,12997	2202	4297	6499	63231933	SO:0001627	intron_variant	10845	.			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1705-6C>A	15.37:g.65444880G>T		Somatic		Capture	Illumina HiSeq	Phase_I	63231933	.	A1L428|A8K8F1|B9EGI8|Q9H4D9	Intron	SNP	ENST00000300107.3	37	CCDS10202.1																																																																																				0.318	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660	
CILP	8483	broad.mit.edu	37	15	65489951	65489951	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:65489951C>T	ENST00000261883.4	-	9	2839	c.2673G>A	c.(2671-2673)ggG>ggA	p.G891G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	891					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G891G(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATAGATGGGCCCATTGCTCT	0.547																																					p.G891G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2673A	15						.						83.0	75.0	77.0					15																	65489951		2202	4299	6501	63277004	SO:0001819	synonymous_variant	8483	exon9			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2673G>A	15.37:g.65489951C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63277004	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
CILP	8483	broad.mit.edu	37	15	65496671	65496671	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:65496671A>C	ENST00000261883.4	-	6	1020	c.854T>G	c.(853-855)aTt>aGt	p.I285S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	285					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.I285S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGAGTACAATGGGGGCAAA	0.517																																					p.I285S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T854G	15						.						113.0	101.0	105.0					15																	65496671		2201	4299	6500	63283724	SO:0001583	missense	8483	exon6			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.854T>G	15.37:g.65496671A>C	ENSP00000261883:p.Ile285Ser	Somatic		Capture	Illumina HiSeq	Phase_I	63283724	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	8.010	0.757266	0.15846	.	.	ENSG00000138615	ENST00000261883	T	0.36699	1.24	5.63	4.5	0.54988	Carboxypeptidase-like, regulatory domain (1);	0.343519	0.33515	N	0.004824	T	0.24122	0.0584	L	0.34521	1.04	0.09310	N	1	B	0.21905	0.062	B	0.21708	0.036	T	0.22382	-1.0218	10	0.14252	T	0.57	-6.59	8.1645	0.31217	0.8286:0.0:0.1714:0.0	.	285	O75339	CILP1_HUMAN	S	285	ENSP00000261883:I285S	ENSP00000261883:I285S	I	-	2	0	CILP	63283724	0.273000	0.24181	0.638000	0.29380	0.986000	0.74619	1.230000	0.32612	0.964000	0.38108	0.460000	0.39030	ATT		0.517	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
DPP8	54878	broad.mit.edu	37	15	65748580	65748580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:65748580C>T	ENST00000341861.5	-	16	3729	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	DPP8_ENST00000321118.7_Intron|DPP8_ENST00000339244.5_Missense_Mutation_p.A544T|DPP8_ENST00000560048.2_5'Flank|DPP8_ENST00000559233.1_Missense_Mutation_p.A717T|DPP8_ENST00000321147.6_Missense_Mutation_p.A717T|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000300141.6_Missense_Mutation_p.A701T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	717					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A701T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATTTAAAGGCGCCTTCAAAT	0.398																																					p.A717T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2149A	15						.						96.0	99.0	98.0					15																	65748580		2201	4299	6500	63535633	SO:0001583	missense	54878	exon17			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2149G>A	15.37:g.65748580C>T	ENSP00000339208:p.Ala717Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63535633	NM_197961	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013773	0.54468	.	.	ENSG00000074603	ENST00000341861;ENST00000300141;ENST00000321147;ENST00000339244;ENST00000395652	T;T;T;T;T	0.50001	1.28;1.28;0.76;1.28;0.76	5.58	5.58	0.84498	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.64136	0.2571	L	0.49778	1.585	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.993;0.657	D;P;B	0.70716	0.97;0.786;0.366	T	0.58880	-0.7558	10	0.34782	T	0.22	-25.3892	19.5743	0.95436	0.0:1.0:0.0:0.0	.	544;717;717	C9JSG1;Q6V1X1-2;Q6V1X1	.;.;DPP8_HUMAN	T	717;701;717;544;717	ENSP00000339208:A717T;ENSP00000300141:A701T;ENSP00000318111:A717T;ENSP00000341230:A544T;ENSP00000379013:A717T	ENSP00000300141:A701T	A	-	1	0	DPP8	63535633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.611000	0.88343	0.655000	0.94253	GCC		0.398	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
DPP8	54878	broad.mit.edu	37	15	65771244	65771244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:65771244C>T	ENST00000341861.5	-	11	3058	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	DPP8_ENST00000321118.7_Missense_Mutation_p.R493Q|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000559233.1_Missense_Mutation_p.R493Q|DPP8_ENST00000321147.6_Missense_Mutation_p.R493Q|DPP8_ENST00000358939.4_Missense_Mutation_p.R477Q|DPP8_ENST00000300141.6_Missense_Mutation_p.R477Q	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	493					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.R477Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCACTGGATCGTTTATATTT	0.363																																					p.R493Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478A	15						.						57.0	57.0	57.0					15																	65771244		2201	4299	6500	63558297	SO:0001583	missense	54878	exon12			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1478G>A	15.37:g.65771244C>T	ENSP00000339208:p.Arg493Gln	Somatic		Capture	Illumina HiSeq	Phase_I	63558297	NM_197961	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969667	0.34754	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000395652	T;T	0.44482	0.92;0.92	5.55	5.55	0.83447	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.099543	0.41194	D	0.000940	T	0.24851	0.0603	L	0.29908	0.895	0.80722	D	1	B;P;B;B	0.41673	0.007;0.759;0.193;0.009	B;B;B;B	0.31101	0.005;0.124;0.06;0.008	T	0.07597	-1.0764	10	0.13108	T	0.6	-10.6631	12.808	0.57624	0.0:0.9252:0.0:0.0748	.	477;477;493;493	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	Q	493;477;477;493;493;493	ENSP00000339208:R493Q;ENSP00000300141:R477Q	ENSP00000300141:R477Q	R	-	2	0	DPP8	63558297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.605000	0.88082	0.557000	0.71058	CGA		0.363	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
DENND4A	10260	broad.mit.edu	37	15	66044735	66044735	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66044735C>A	ENST00000431932.2	-	4	751	c.543G>T	c.(541-543)aaG>aaT	p.K181N	DENND4A_ENST00000443035.3_Missense_Mutation_p.K181N	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	181	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K181N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TATTGAGATTCTTGTCGACTT	0.343																																					p.K181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	15						.						94.0	88.0	90.0					15																	66044735		1910	4126	6036	63831789	SO:0001583	missense	10260	exon4			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.543G>T	15.37:g.66044735C>A	ENSP00000396830:p.Lys181Asn	Somatic		Capture	Illumina HiSeq	Phase_I	63831789	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533357	0.64972	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.10573	2.86;2.9	4.95	0.947	0.19555	uDENN (1);MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.999	D;D;D	0.85130	0.924;0.997;0.995	T	0.02975	-1.1087	10	0.87932	D	0	.	8.879	0.35363	0.0:0.6956:0.0:0.3044	.	181;181;181	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	N	181	ENSP00000391167:K181N;ENSP00000396830:K181N	ENSP00000396830:K181N	K	-	3	2	DENND4A	63831789	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.951000	0.40333	0.221000	0.20879	0.655000	0.94253	AAG		0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DIS3L	115752	broad.mit.edu	37	15	66610948	66610948	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66610948A>G	ENST00000319212.4	+	8	1206	c.1156A>G	c.(1156-1158)Acc>Gcc	p.T386A	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319194.5_Missense_Mutation_p.T303A|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	386					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.T303A(1)|p.T386A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAAGCAGAAACCCTCCAGGT	0.423																																					p.T303A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A907G	15						.						80.0	79.0	79.0					15																	66610948		2201	4299	6500	64398002	SO:0001583	missense	115752	exon8				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1156A>G	15.37:g.66610948A>G	ENSP00000321711:p.Thr386Ala	Somatic		Capture	Illumina HiSeq	Phase_I	64398002	NM_133375	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	A	0.456	-0.891485	0.02491	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.21932	1.98;1.98	3.95	0.917	0.19380	.	0.717845	0.13714	N	0.367877	T	0.07052	0.0179	N	0.04132	-0.27	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34453	-0.9828	10	0.06494	T	0.89	-6.3293	6.1705	0.20414	0.1766:0.1539:0.6695:0.0	.	386;386	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	A	303;386	ENSP00000321583:T303A;ENSP00000321711:T386A	ENSP00000321583:T303A	T	+	1	0	DIS3L	64398002	1.000000	0.71417	0.949000	0.38748	0.592000	0.36648	3.694000	0.54742	0.088000	0.17205	-0.202000	0.12741	ACC		0.423	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
DIS3L	115752	broad.mit.edu	37	15	66621304	66621304	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66621304T>C	ENST00000319212.4	+	13	2251				DIS3L_ENST00000319194.5_Intron|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease						RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.?(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGTTCTTTGTCAGGTCCAAT	0.493																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	15						.						116.0	121.0	119.0					15																	66621304		2201	4299	6500	64408358	SO:0001627	intron_variant	115752	.				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2202-4T>C	15.37:g.66621304T>C		Somatic		Capture	Illumina HiSeq	Phase_I	64408358	.	Q8N1N8|Q8WTU9|Q96CM7	Intron	SNP	ENST00000319212.4	37	CCDS45286.1																																																																																				0.493	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
TIPIN	54962	broad.mit.edu	37	15	66629531	66629531	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66629531C>A	ENST00000261881.4	-	8	768				TIPIN_ENST00000367709.4_Intron	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein						cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGAAAGAAATCATACCATTAT	0.353																																					.												.	.	0			.	15						.						83.0	78.0	79.0					15																	66629531		2201	4299	6500	64416585	SO:0001627	intron_variant	54962	.			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.683-12G>T	15.37:g.66629531C>A		Somatic		Capture	Illumina HiSeq	Phase_I	64416585	.	B2CW64|Q9NWZ6	Intron	SNP	ENST00000261881.4	37	CCDS10215.1																																																																																				0.353	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858	
ZWILCH	55055	broad.mit.edu	37	15	66806401	66806401	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66806401G>T	ENST00000307897.5	+	3	561	c.181G>T	c.(181-183)Gta>Tta	p.V61L	RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	61					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.V61L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AAATGACATAGTATTCATAGT	0.363																																					p.V61L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181T	15						.						64.0	65.0	65.0					15																	66806401		2201	4299	6500	64593455	SO:0001583	missense	55055	exon3			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.181G>T	15.37:g.66806401G>T	ENSP00000311429:p.Val61Leu	Somatic		Capture	Illumina HiSeq	Phase_I	64593455	NM_017975	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834812	0.16820	.	.	ENSG00000174442	ENST00000307897	T	0.57273	0.41	6.16	-1.89	0.07689	.	1.037760	0.07513	N	0.909212	T	0.35158	0.0922	L	0.31664	0.95	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23904	-1.0175	10	0.16420	T	0.52	-1.4066	7.8256	0.29313	0.5054:0.1124:0.3822:0.0	.	61	Q9H900	ZWILC_HUMAN	L	61	ENSP00000311429:V61L	ENSP00000311429:V61L	V	+	1	0	ZWILCH	64593455	0.004000	0.15560	0.001000	0.08648	0.626000	0.37791	-0.151000	0.10175	-0.209000	0.10156	0.650000	0.86243	GTA		0.363	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	
LCTL	197021	broad.mit.edu	37	15	66840832	66840832	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66840832C>T	ENST00000341509.5	-	13	1831	c.1700G>A	c.(1699-1701)aGc>aAc	p.S567N	ZWILCH_ENST00000307897.5_3'UTR|ZWILCH_ENST00000446801.2_3'UTR|LCTL_ENST00000537670.1_Missense_Mutation_p.S394N	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	567					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S567N(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGTCTCAGCTCTGCCTCCT	0.463																																					p.S567N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1700A	15						.						125.0	123.0	124.0					15																	66840832		2201	4299	6500	64627886	SO:0001583	missense	197021	exon13			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1700G>A	15.37:g.66840832C>T	ENSP00000343490:p.Ser567Asn	Somatic		Capture	Illumina HiSeq	Phase_I	64627886	NM_207338	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520298	0.44866	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.33654	1.61;1.4	5.76	1.76	0.24704	.	0.391635	0.32161	N	0.006485	T	0.19208	0.0461	N	0.17082	0.46	0.26911	N	0.96689	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15037	-1.0451	10	0.30854	T	0.27	.	7.555	0.27819	0.0:0.6871:0.1202:0.1927	.	394;567	B3KQY0;Q6UWM7	.;LCTL_HUMAN	N	394;567	ENSP00000445419:S394N;ENSP00000343490:S567N	ENSP00000343490:S567N	S	-	2	0	LCTL	64627886	0.099000	0.21834	0.027000	0.17364	0.015000	0.08874	0.251000	0.18257	0.088000	0.17205	-0.811000	0.03165	AGC		0.463	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338	
LCTL	197021	broad.mit.edu	37	15	66855937	66855937	+	Missense_Mutation	SNP	C	C	T	rs113055189		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:66855937C>T	ENST00000341509.5	-	4	528	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	133					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.E133K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTAGAATTCGATTCCCTTC	0.527																																					p.E133K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	15						.						146.0	121.0	129.0					15																	66855937		2201	4299	6500	64642991	SO:0001583	missense	197021	exon4			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.397G>A	15.37:g.66855937C>T	ENSP00000343490:p.Glu133Lys	Somatic		Capture	Illumina HiSeq	Phase_I	64642991	NM_207338	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	0.895	-0.724255	0.03158	.	.	ENSG00000188501	ENST00000341509	T	0.29397	1.57	5.67	-6.89	0.01660	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.808003	0.11756	N	0.532575	T	0.11452	0.0279	N	0.10618	0.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37361	-0.9709	10	0.12430	T	0.62	-2.0809	11.0768	0.48036	0.0:0.1733:0.4977:0.3289	.	133	Q6UWM7	LCTL_HUMAN	K	133	ENSP00000343490:E133K	ENSP00000343490:E133K	E	-	1	0	LCTL	64642991	0.545000	0.26449	0.000000	0.03702	0.053000	0.15095	0.098000	0.15189	-1.491000	0.01840	-3.357000	0.00042	GAA		0.527	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338	
SMAD3	4088	broad.mit.edu	37	15	67482849	67482849	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:67482849G>T	ENST00000327367.4	+	9	1563	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	SMAD3_ENST00000439724.3_Missense_Mutation_p.S374I|SMAD3_ENST00000540846.2_Missense_Mutation_p.S313I|SMAD3_ENST00000537194.2_Missense_Mutation_p.S223I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	418	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|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)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S418I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGCTCCCCAAGCATCCGCTGT	0.547																																					p.S374I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121T	15						.						60.0	51.0	54.0					15																	67482849		2201	4299	6500	65269903	SO:0001583	missense	4088	exon9			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1253G>T	15.37:g.67482849G>T	ENSP00000332973:p.Ser418Ile	Somatic		Capture	Illumina HiSeq	Phase_I	65269903	NM_001145103	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370579	0.42003	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98978	-3.77;-4.31;-3.74;-5.29	4.97	4.97	0.65823	SMAD domain-like (1);SMAD domain, Dwarfin-type (1);	0.083241	0.85682	D	0.000000	D	0.97219	0.9091	L	0.38838	1.175	0.80722	D	1	B;B	0.14805	0.011;0.003	B;B	0.11329	0.006;0.005	D	0.95440	0.8524	10	0.34782	T	0.22	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	374;418	B7Z4Z5;P84022	.;SMAD3_HUMAN	I	418;418;313;374;223	ENSP00000332973:S418I;ENSP00000437757:S313I;ENSP00000401133:S374I;ENSP00000445348:S223I	ENSP00000332973:S418I	S	+	2	0	SMAD3	65269903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.421000	0.66447	2.318000	0.78349	0.561000	0.74099	AGC		0.547	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
AAGAB	79719	broad.mit.edu	37	15	67501869	67501869	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:67501869G>T	ENST00000261880.5	-	6	653	c.549C>A	c.(547-549)ggC>ggA	p.G183G	AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Silent_p.G74G|AAGAB_ENST00000561452.1_Silent_p.G74G	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	183					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G183G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAAGGCTAAAGCCTTGGTTCC	0.378																																					p.G183G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549A	15						.						155.0	153.0	153.0					15																	67501869		1837	4085	5922	65288923	SO:0001819	synonymous_variant	79719	exon6			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.549C>A	15.37:g.67501869G>T		Somatic		Capture	Illumina HiSeq	Phase_I	65288923	NM_024666	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Silent	SNP	ENST00000261880.5	37	CCDS42050.1																																																																																				0.378	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666	
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:67524224C>A	ENST00000261880.5	-	5	567	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	AAGAB_ENST00000542650.1_Nonsense_Mutation_p.E46*|AAGAB_ENST00000561452.1_Nonsense_Mutation_p.E46*	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403																																					p.E155X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G463T	15						.						211.0	198.0	202.0					15																	67524224		1887	4126	6013	65311278	SO:0001587	stop_gained	79719	exon5			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.463G>T	15.37:g.67524224C>A	ENSP00000261880:p.Glu155*	Somatic		Capture	Illumina HiSeq	Phase_I	65311278	NM_024666	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Nonsense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	37	6.567006	0.97671	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	.	.	.	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	.	.	.	X	155;46	.	ENSP00000261880:E155X	E	-	1	0	AAGAB	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA		0.403	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666	
ITGA11	22801	broad.mit.edu	37	15	68624264	68624264	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:68624264T>C	ENST00000315757.7	-	14	1789	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	ITGA11_ENST00000423218.2_Missense_Mutation_p.D568G	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	568					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.D568G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGCGTGGTTGTCCTCCAGGGG	0.572																																					p.D568G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1703G	15						.						57.0	57.0	57.0					15																	68624264		1988	4151	6139	66411318	SO:0001583	missense	22801	exon14			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1703A>G	15.37:g.68624264T>C	ENSP00000327290:p.Asp568Gly	Somatic		Capture	Illumina HiSeq	Phase_I	66411318	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322306	0.60634	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.42131	0.98;0.98	4.67	4.67	0.58626	.	0.159869	0.53938	D	0.000052	T	0.50854	0.1640	L	0.52759	1.655	0.46167	D	0.998904	D;P	0.55172	0.97;0.933	P;P	0.59948	0.847;0.866	T	0.42015	-0.9476	10	0.14656	T	0.56	.	13.3244	0.60450	0.0:0.0:0.0:1.0	.	568;568	A8K8T0;Q9UKX5	.;ITA11_HUMAN	G	568;568;203;568	ENSP00000327290:D568G;ENSP00000403392:D568G	ENSP00000327290:D568G	D	-	2	0	ITGA11	66411318	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	7.631000	0.83237	1.747000	0.51819	0.374000	0.22700	GAC		0.572	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
CORO2B	10391	broad.mit.edu	37	15	69006341	69006341	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69006341C>A	ENST00000566799.1	+	6	755	c.726C>A	c.(724-726)gtC>gtA	p.V242V	CORO2B_ENST00000261861.5_Silent_p.V237V|CORO2B_ENST00000540068.1_Silent_p.V237V|CORO2B_ENST00000543950.1_Silent_p.V237V			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	242					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.V242V(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGACAGGGGTCTCCAGGTGGA	0.592																																					p.V242V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726A	15						.						74.0	58.0	63.0					15																	69006341		2200	4298	6498	66793395	SO:0001819	synonymous_variant	10391	exon6			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.726C>A	15.37:g.69006341C>A		Somatic		Capture	Illumina HiSeq	Phase_I	66793395	NM_006091	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																				0.592	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
CORO2B	10391	broad.mit.edu	37	15	69006921	69006921	+	Silent	SNP	C	C	T	rs372424321		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69006921C>T	ENST00000566799.1	+	7	818	c.789C>T	c.(787-789)atC>atT	p.I263I	CORO2B_ENST00000261861.5_Silent_p.I258I|CORO2B_ENST00000540068.1_Silent_p.I258I|CORO2B_ENST00000543950.1_Silent_p.I258I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	263					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.I263I(3)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCCTGATCGAAGAGGAAA	0.577																																					p.I263I												.	.	3	Substitution - coding silent(3)	large_intestine(2)|kidney(1)	c.C789T	15						.						151.0	139.0	143.0					15																	69006921		2200	4298	6498	66793975	SO:0001819	synonymous_variant	10391	exon7			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.789C>T	15.37:g.69006921C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66793975	NM_006091	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																				0.577	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
CORO2B	10391	broad.mit.edu	37	15	69011039	69011039	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69011039G>A	ENST00000566799.1	+	9	999	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	CORO2B_ENST00000261861.5_Missense_Mutation_p.V319I|CORO2B_ENST00000540068.1_Missense_Mutation_p.V319I|CORO2B_ENST00000543950.1_Missense_Mutation_p.V319I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	324					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.V324I(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGTTACAGGGGTCATGCCCAA	0.577																																					p.V324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	15						.						74.0	55.0	61.0					15																	69011039		2200	4298	6498	66798093	SO:0001583	missense	10391	exon9			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.970G>A	15.37:g.69011039G>A	ENSP00000454783:p.Val324Ile	Somatic		Capture	Illumina HiSeq	Phase_I	66798093	NM_006091	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353932	0.61293	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.29917	1.55;1.55	5.28	5.28	0.74379	Domain of unknown function DUF1900 (1);	0.115747	0.64402	D	0.000018	T	0.21841	0.0526	N	0.17764	0.52	0.80722	D	1	B	0.28026	0.198	B	0.24006	0.05	T	0.04255	-1.0965	10	0.24483	T	0.36	-28.7695	17.4871	0.87692	0.0:0.0:1.0:0.0	.	324	Q9UQ03	COR2B_HUMAN	I	324;319;319	ENSP00000446250:V319I;ENSP00000443819:V319I	ENSP00000261861:V324I	V	+	1	0	CORO2B	66798093	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.433000	0.80362	2.468000	0.83385	0.650000	0.86243	GTC		0.577	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
SPESP1	246777	broad.mit.edu	37	15	69238490	69238490	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69238490C>A	ENST00000310673.3	+	2	771	c.617C>A	c.(616-618)aCt>aAt	p.T206N	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	206					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.T206N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGTGAAACTGCGATAGAA	0.388																																					p.T206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C617A	15						.						83.0	85.0	84.0					15																	69238490		2200	4298	6498	67025544	SO:0001583	missense	246777	exon2			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.617C>A	15.37:g.69238490C>A	ENSP00000312284:p.Thr206Asn	Somatic		Capture	Illumina HiSeq	Phase_I	67025544	NM_145658	Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	4.755	0.140396	0.09083	.	.	ENSG00000258484	ENST00000310673	T	0.28895	1.59	3.98	-4.04	0.04010	.	2.303270	0.02462	N	0.086682	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.11329	0.006	T	0.12167	-1.0558	10	0.30854	T	0.27	0.5867	1.3432	0.02158	0.2373:0.3783:0.2371:0.1473	.	206	Q6UW49	SPESP_HUMAN	N	206	ENSP00000312284:T206N	ENSP00000312284:T206N	T	+	2	0	SPESP1	67025544	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.292000	0.08332	-0.260000	0.09418	-0.176000	0.13171	ACT		0.388	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658	
GLCE	26035	broad.mit.edu	37	15	69553615	69553615	+	Missense_Mutation	SNP	C	C	T	rs202049062		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69553615C>T	ENST00000261858.2	+	4	1004	c.776C>T	c.(775-777)gCg>gTg	p.A259V	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.A195V	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	259					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)	p.A259V(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCTTTATGGCGAATGTGGCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19069	0.001		0.0	False		,,,				2504	0.0				p.A259V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	15						.	C	VAL/ALA	0,4400		0,0,2200	154.0	150.0	151.0		776	4.8	0.7	15		151	1,8595	1.2+/-3.3	0,1,4297	no	missense	GLCE	NM_015554.1	64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	259/618	69553615	1,12995	2200	4298	6498	67340669	SO:0001583	missense	26035	exon4			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.776C>T	15.37:g.69553615C>T	ENSP00000261858:p.Ala259Val	Somatic		Capture	Illumina HiSeq	Phase_I	67340669	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.980	0.975025	0.18736	0.0	1.16E-4	ENSG00000138604	ENST00000261858	T	0.30448	1.53	5.73	4.81	0.61882	.	0.474488	0.24557	N	0.037511	T	0.13072	0.0317	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.35671	T	0.21	-13.1804	12.8957	0.58098	0.0:0.9212:0.0:0.0788	.	259	O94923	GLCE_HUMAN	V	259	ENSP00000261858:A259V	ENSP00000261858:A259V	A	+	2	0	GLCE	67340669	0.618000	0.27051	0.666000	0.29783	0.620000	0.37586	2.198000	0.42705	2.692000	0.91855	0.591000	0.81541	GCG		0.393	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
PAQR5	54852	broad.mit.edu	37	15	69689834	69689834	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:69689834C>A	ENST00000340965.3	+	7	1208	c.540C>A	c.(538-540)ctC>ctA	p.L180L	PAQR5_ENST00000395407.2_Silent_p.L180L|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.L180L|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	180					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.L180L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGCCCAGACTCTGTAAGGTGA	0.498																																					p.L180L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C540A	15						.						200.0	163.0	175.0					15																	69689834		2199	4298	6497	67476888	SO:0001819	synonymous_variant	54852	exon7				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.540C>A	15.37:g.69689834C>A		Somatic		Capture	Illumina HiSeq	Phase_I	67476888	NM_001104554	Q8IXU2	Silent	SNP	ENST00000340965.3	37	CCDS10232.1																																																																																				0.498	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705	
UACA	55075	broad.mit.edu	37	15	70961160	70961160	+	Silent	SNP	C	C	T	rs189747910		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:70961160C>T	ENST00000322954.6	-	16	2048	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A	UACA_ENST00000379983.2_Silent_p.A608A|UACA_ENST00000560441.1_Silent_p.A606A|UACA_ENST00000539319.1_Silent_p.A512A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	621					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.A608A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGCCAACTTCGCTGACAATT	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.0				p.A621A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1863A	15						.						90.0	90.0	90.0					15																	70961160		2191	4296	6487	68748214	SO:0001819	synonymous_variant	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1863G>A	15.37:g.70961160C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68748214	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																				0.378	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
LRRC49	54839	broad.mit.edu	37	15	71272452	71272452	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:71272452C>T	ENST00000260382.5	+	10	1194	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	LRRC49_ENST00000544974.2_Missense_Mutation_p.R302C|LRRC49_ENST00000560158.2_5'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.R268C|LRRC49_ENST00000560691.1_Missense_Mutation_p.R18C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R317C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	312	LRRCT.					cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R312C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAAGAAAGGCGTATGGCATC	0.338																																					p.R268C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C802T	15						.						121.0	111.0	115.0					15																	71272452		2199	4297	6496	69059506	SO:0001583	missense	54839	exon11				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.934C>T	15.37:g.71272452C>T	ENSP00000260382:p.Arg312Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69059506	NM_001199018	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048641	0.75846	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.55930	0.49;0.49;0.49	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.992;0.991;0.996	T	0.73369	-0.4004	10	0.87932	D	0	-9.3979	15.9654	0.79966	0.0:1.0:0.0:0.0	.	317;284;268;312;302	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	C	302;312;268;284	ENSP00000439600:R302C;ENSP00000260382:R312C;ENSP00000414065:R268C	ENSP00000260382:R312C	R	+	1	0	LRRC49	69059506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.428000	0.59894	2.434000	0.82447	0.455000	0.32223	CGT		0.338	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
LRRC49	54839	broad.mit.edu	37	15	71302212	71302212	+	Missense_Mutation	SNP	C	C	T	rs148375487	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:71302212C>T	ENST00000260382.5	+	13	1734	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.R180C|LRRC49_ENST00000560691.1_Missense_Mutation_p.R198C|LRRC49_ENST00000544974.2_Missense_Mutation_p.R482C|LRRC49_ENST00000443425.2_Missense_Mutation_p.R448C|LRRC49_ENST00000560369.1_Missense_Mutation_p.R497C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	492						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R492C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CCAACTCCGTCGTATTGACCA	0.378													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17856	0.0		0.0	False		,,,				2504	0.0				p.R448C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1342T	15						.	C	CYS/ARG,CYS/ARG,CYS/ARG	19,4379	26.2+/-53.5	0,19,2180	110.0	99.0	103.0		1489,1342,1474	4.9	0.2	15	dbSNP_134	103	0,8592		0,0,4296	yes	missense,missense,missense	LRRC49	NM_001199017.1,NM_001199018.1,NM_017691.3	180,180,180	0,19,6476	TT,TC,CC		0.0,0.432,0.1463	probably-damaging,probably-damaging,probably-damaging	497/692,448/643,492/687	71302212	19,12971	2199	4296	6495	69089266	SO:0001583	missense	54839	exon14				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1474C>T	15.37:g.71302212C>T	ENSP00000260382:p.Arg492Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69089266	NM_001199018	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.56	3.418901	0.62622	0.00432	0.0	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.38401	1.14;1.14;1.14	5.82	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;0.998;1.0;1.0;0.996	T	0.52823	-0.8524	10	0.48119	T	0.1	-6.7655	7.8764	0.29597	0.1591:0.7598:0.0:0.0811	.	497;464;448;492;482	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	C	482;492;448;464	ENSP00000439600:R482C;ENSP00000260382:R492C;ENSP00000414065:R448C	ENSP00000260382:R492C	R	+	1	0	LRRC49	69089266	1.000000	0.71417	0.220000	0.23810	0.841000	0.47740	3.790000	0.55461	1.485000	0.48380	0.586000	0.80456	CGT		0.378	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
MYO9A	4649	broad.mit.edu	37	15	72119284	72119284	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:72119284G>A	ENST00000356056.5	-	42	7756	c.7284C>T	c.(7282-7284)gtC>gtT	p.V2428V	MYO9A_ENST00000444904.1_Silent_p.V2409V|MYO9A_ENST00000424560.1_Silent_p.V2499V|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2428	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.V2428V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAGAGTCCACGACATCTAAAG	0.443																																					p.V2428V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7284T	15						.						73.0	74.0	74.0					15																	72119284		2199	4297	6496	69906338	SO:0001819	synonymous_variant	4649	exon42			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7284C>T	15.37:g.72119284G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69906338	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72190423	72190423	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:72190423A>C	ENST00000356056.5	-	25	4893	c.4421T>G	c.(4420-4422)aTt>aGt	p.I1474S	MYO9A_ENST00000444904.1_Missense_Mutation_p.I1455S|MYO9A_ENST00000424560.1_Missense_Mutation_p.I1474S|MYO9A_ENST00000564571.1_Missense_Mutation_p.I1474S|MYO9A_ENST00000566885.1_Missense_Mutation_p.I1094S|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1474	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.I1474S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGGAACAATCTGATCTTT	0.393																																					p.I1474S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4421G	15						.						110.0	100.0	103.0					15																	72190423		2199	4297	6496	69977477	SO:0001583	missense	4649	exon25			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4421T>G	15.37:g.72190423A>C	ENSP00000348349:p.Ile1474Ser	Somatic		Capture	Illumina HiSeq	Phase_I	69977477	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	2.388	-0.340484	0.05243	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.83837	-1.77;-1.74;-1.77	5.52	3.17	0.36434	.	.	.	.	.	T	0.58764	0.2145	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.45891	-0.9230	9	0.08837	T	0.75	.	1.5806	0.02633	0.5605:0.1425:0.1595:0.1375	.	1455;1474;1474	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	S	1474;1474;1455	ENSP00000348349:I1474S;ENSP00000399162:I1474S;ENSP00000398250:I1455S	ENSP00000348349:I1474S	I	-	2	0	MYO9A	69977477	0.000000	0.05858	0.022000	0.16811	0.114000	0.19823	0.364000	0.20325	0.914000	0.36822	0.377000	0.23210	ATT		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
PKM	5315	broad.mit.edu	37	15	72502012	72502012	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:72502012A>G	ENST00000335181.5	-	5	669		c.e5+1		PKM_ENST00000568459.1_Splice_Site|PKM_ENST00000565184.1_Splice_Site|PKM_ENST00000449901.2_Splice_Site|PKM_ENST00000389093.3_Splice_Site|PKM_ENST00000319622.6_Splice_Site|PKM_ENST00000568883.1_Intron|PKM_ENST00000565154.1_Splice_Site	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.?(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCCCATACGTACCTTTCTGCT	0.483																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						162.0	147.0	152.0					15																	72502012		2199	4297	6496	70289066	SO:0001630	splice_region_variant	5315	.			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.565+1T>C	15.37:g.72502012A>G		Somatic		Capture	Illumina HiSeq	Phase_I	70289066	.	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Splice_Site	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.644483	0.67244	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000389093;ENST00000449901	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8499	0.78921	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKM2	70289066	1.000000	0.71417	0.927000	0.36925	0.688000	0.40055	7.424000	0.80242	2.199000	0.70637	0.533000	0.62120	.		0.483	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		Intron
TMEM202	338949	broad.mit.edu	37	15	72691128	72691128	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:72691128C>T	ENST00000341689.3	+	2	270	c.216C>T	c.(214-216)atC>atT	p.I72I	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	72						integral component of membrane (GO:0016021)		p.I72I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAATGCTGATCGCCATGTCCC	0.522																																					p.I72I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	15						.						145.0	107.0	120.0					15																	72691128		2199	4297	6496	70478182	SO:0001819	synonymous_variant	338949	exon2				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.216C>T	15.37:g.72691128C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70478182	NM_001080462		Silent	SNP	ENST00000341689.3	37	CCDS32287.1																																																																																				0.522	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
BBS4	585	broad.mit.edu	37	15	73027524	73027524	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:73027524G>T	ENST00000268057.4	+	13	1147		c.e13+1		BBS4_ENST00000539603.1_Splice_Site|BBS4_ENST00000395205.2_Splice_Site|BBS4_ENST00000542334.1_Splice_Site	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4						adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.?(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACCTGGATAAGTATGCACTTT	0.512									Bardet-Biedl syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						70.0	66.0	67.0					15																	73027524		2198	4297	6495	70814577	SO:0001630	splice_region_variant	585	.	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1106+1G>T	15.37:g.73027524G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70814577	.	B4E178|Q53DZ5|Q8NHU9|Q96H45	Splice_Site	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271675	0.59649	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	.	.	.	4.21	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1592	0.42842	0.0954:0.0:0.9046:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS4	70814577	1.000000	0.71417	0.984000	0.44739	0.860000	0.49131	7.784000	0.85713	1.130000	0.42092	0.643000	0.83706	.		0.512	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	Intron
HCN4	10021	broad.mit.edu	37	15	73621930	73621930	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:73621930C>T	ENST00000261917.3	-	4	2567	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	525					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R525H(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGTACTGGCGCCGGGAGGA	0.637																																					p.R525H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1574A	15						.						58.0	55.0	56.0					15																	73621930		2198	4297	6495	71408983	SO:0001583	missense	10021	exon4			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1574G>A	15.37:g.73621930C>T	ENSP00000261917:p.Arg525His	Somatic		Capture	Illumina HiSeq	Phase_I	71408983	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125399	0.77436	.	.	ENSG00000138622	ENST00000261917	D	0.96802	-4.13	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.98083	0.9368	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99094	1.0841	9	0.66056	D	0.02	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	525	Q9Y3Q4	HCN4_HUMAN	H	525	ENSP00000261917:R525H	ENSP00000261917:R525H	R	-	2	0	HCN4	71408983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	CGC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
TBC1D21	161514	broad.mit.edu	37	15	74173731	74173731	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:74173731T>G	ENST00000300504.2	+	2	143				TBC1D21_ENST00000535547.2_Intron|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21							acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGGTTGCTGCTTTTGCCAGGT	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						92.0	83.0	86.0					15																	74173731		2198	4297	6495	71960784	SO:0001627	intron_variant	161514	.			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.61-9T>G	15.37:g.74173731T>G		Somatic		Capture	Illumina HiSeq	Phase_I	71960784	.	B9A6M2	Intron	SNP	ENST00000300504.2	37	CCDS10252.1																																																																																				0.433	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	
PML	5371	broad.mit.edu	37	15	74290416	74290416	+	Silent	SNP	G	G	A	rs374118853		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:74290416G>A	ENST00000268058.3	+	2	297	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PML_ENST00000436891.3_Silent_p.P67P|PML_ENST00000435786.2_Silent_p.P67P|PML_ENST00000567543.1_Silent_p.P67P|PML_ENST00000569965.1_Silent_p.P67P|PML_ENST00000354026.6_Silent_p.P67P|PML_ENST00000563500.1_Silent_p.P67P|PML_ENST00000359928.4_Silent_p.P67P|PML_ENST00000395132.2_Silent_p.P67P|PML_ENST00000569477.1_Silent_p.P67P|PML_ENST00000395135.3_Silent_p.P67P|PML_ENST00000268059.6_Silent_p.P67P|PML_ENST00000564428.1_Silent_p.P67P|PML_ENST00000565898.1_Silent_p.P67P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	67					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P67P(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCAAGTGCCCGAAGCTGCTGC	0.667			T	"""RARA, PAX5"""	"""APL, ALL"""																																p.P67P			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G201A	15						.	G	,,,,,,,,	0,4396		0,0,2198	36.0	37.0	37.0		201,201,201,201,201,201,201,201,201	-0.3	1.0	15		37	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	,,,,,,,,	0,2,6493	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,	67/634,67/883,67/830,67/612,67/561,67/424,67/436,67/586,67/782	74290416	2,12988	2198	4297	6495	72077469	SO:0001819	synonymous_variant	5371	exon2			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.201G>A	15.37:g.74290416G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72077469	NM_033238	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																				0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
ISLR	3671	broad.mit.edu	37	15	74467299	74467299	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:74467299G>A	ENST00000249842.3	+	2	457	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A34T	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	34	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.A34T(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTTCCAGATCGCCGACTGTGC	0.642																																					p.A34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	15						.						59.0	53.0	55.0					15																	74467299		2198	4297	6495	72254352	SO:0001583	missense	3671	exon2			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.100G>A	15.37:g.74467299G>A	ENSP00000249842:p.Ala34Thr	Somatic		Capture	Illumina HiSeq	Phase_I	72254352	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139935	0.77775	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.42131	0.98;0.98	4.05	3.08	0.35506	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.51477	U	0.000086	T	0.28333	0.0700	N	0.05554	-0.025	0.53688	D	0.999972	D	0.65815	0.995	P	0.48189	0.57	T	0.09885	-1.0654	10	0.35671	T	0.21	.	12.9112	0.58181	0.0:0.0:0.8371:0.1629	.	34	O14498	ISLR_HUMAN	T	34	ENSP00000249842:A34T;ENSP00000378550:A34T	ENSP00000249842:A34T	A	+	1	0	ISLR	72254352	1.000000	0.71417	0.928000	0.36995	0.689000	0.40095	7.441000	0.80485	1.822000	0.53115	0.313000	0.20887	GCC		0.642	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
ISLR	3671	broad.mit.edu	37	15	74467493	74467493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:74467493C>A	ENST00000249842.3	+	2	651	c.294C>A	c.(292-294)agC>agA	p.S98R	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.S98R	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	98					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.S98R(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTCTCTGAGCCATCTCAAGA	0.617																																					p.S98R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C294A	15						.						58.0	58.0	58.0					15																	74467493		2198	4297	6495	72254546	SO:0001583	missense	3671	exon2			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.294C>A	15.37:g.74467493C>A	ENSP00000249842:p.Ser98Arg	Somatic		Capture	Illumina HiSeq	Phase_I	72254546	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729945	0.30684	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.55052	0.54;0.54	4.05	3.13	0.36017	.	1.531680	0.04372	U	0.359269	T	0.40040	0.1101	L	0.28740	0.885	0.19945	N	0.99994	P	0.42941	0.794	B	0.42163	0.378	T	0.25398	-1.0133	10	0.14656	T	0.56	.	2.8088	0.05435	0.23:0.4113:0.2649:0.0938	.	98	O14498	ISLR_HUMAN	R	98	ENSP00000249842:S98R;ENSP00000378550:S98R	ENSP00000249842:S98R	S	+	3	2	ISLR	72254546	0.782000	0.28689	0.977000	0.42913	0.789000	0.44602	0.242000	0.18087	0.696000	0.31696	0.313000	0.20887	AGC		0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
EDC3	80153	broad.mit.edu	37	15	74964112	74964112	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:74964112T>A	ENST00000315127.4	-	3	349	c.168A>T	c.(166-168)gcA>gcT	p.A56A	EDC3_ENST00000426797.3_Silent_p.A56A|EDC3_ENST00000568176.1_Silent_p.A56A	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	56	Required for P-body targeting and interaction with DCP1A. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.A56A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TAATGTCACCTGCCCTGAAAT	0.423																																					p.A56A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A168T	15						.						60.0	64.0	63.0					15																	74964112		2197	4296	6493	72751165	SO:0001819	synonymous_variant	80153	exon3			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.168A>T	15.37:g.74964112T>A		Somatic		Capture	Illumina HiSeq	Phase_I	72751165	NM_025083	B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	CCDS10267.1																																																																																				0.423	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083	
C15orf39	56905	broad.mit.edu	37	15	75498677	75498677	+	Silent	SNP	G	G	A	rs200766020	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75498677G>A	ENST00000360639.2	+	2	608	c.288G>A	c.(286-288)tcG>tcA	p.S96S	C15orf39_ENST00000567617.1_Silent_p.S96S|C15orf39_ENST00000394987.4_Silent_p.S96S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	96						cytoplasm (GO:0005737)		p.S96S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCTACCGCTCGCCAGCAGAAG	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18317	0.001		0.0	False		,,,				2504	0.0				p.S96S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G288A	15						.						61.0	49.0	53.0					15																	75498677		2197	4295	6492	73285730	SO:0001819	synonymous_variant	56905	exon2			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.288G>A	15.37:g.75498677G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73285730	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	CCDS10276.1																																																																																				0.622	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
SIN3A	25942	broad.mit.edu	37	15	75668018	75668018	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75668018G>A	ENST00000394947.3	-	20	3893	c.3579C>T	c.(3577-3579)ctC>ctT	p.L1193L	SIN3A_ENST00000394949.4_Silent_p.L1193L|SIN3A_ENST00000360439.4_Silent_p.L1193L	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.L1193L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GATGAGCCCGGAGCAGGGCGG	0.468																																					p.L1193L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3579T	15						.						116.0	101.0	106.0					15																	75668018		2197	4294	6491	73455071	SO:0001819	synonymous_variant	25942	exon20			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3579C>T	15.37:g.75668018G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73455071	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75687043	75687043	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75687043T>A	ENST00000394947.3	-	14	2569	c.2255A>T	c.(2254-2256)gAg>gTg	p.E752V	SIN3A_ENST00000394949.4_Missense_Mutation_p.E752V|SIN3A_ENST00000360439.4_Missense_Mutation_p.E752V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.E752V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACTCTCAATCTCATTGAGTAA	0.418																																					p.E752V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2255T	15						.						224.0	196.0	205.0					15																	75687043		2197	4294	6491	73474096	SO:0001583	missense	25942	exon14			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2255A>T	15.37:g.75687043T>A	ENSP00000378402:p.Glu752Val	Somatic		Capture	Illumina HiSeq	Phase_I	73474096	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867990	0.91587	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.56941	0.43;0.43;0.43	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81252	-0.1017	10	0.62326	D	0.03	-28.2174	15.4658	0.75400	0.0:0.0:0.0:1.0	.	752	Q96ST3	SIN3A_HUMAN	V	752	ENSP00000378402:E752V;ENSP00000378403:E752V;ENSP00000353622:E752V	ENSP00000353622:E752V	E	-	2	0	SIN3A	73474096	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.035000	0.88872	2.306000	0.77630	0.482000	0.46254	GAG		0.418	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75694278	75694278	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75694278C>T	ENST00000394947.3	-	10	1755	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E481K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E481K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.E481K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGGAAATTTTCGTAGGCTTCT	0.458																																					p.E481K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441A	15						.						95.0	91.0	92.0					15																	75694278		2197	4294	6491	73481331	SO:0001583	missense	25942	exon10			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1441G>A	15.37:g.75694278C>T	ENSP00000378402:p.Glu481Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73481331	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991377	0.93106	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.72	5.72	0.89469	.	0.092193	0.85682	D	0.000000	T	0.62853	0.2462	M	0.77820	2.39	0.80722	D	1	D	0.60160	0.987	P	0.53689	0.732	T	0.59473	-0.7448	10	0.24483	T	0.36	-22.2566	18.8673	0.92298	0.0:1.0:0.0:0.0	.	481	Q96ST3	SIN3A_HUMAN	K	481	ENSP00000378402:E481K;ENSP00000378403:E481K;ENSP00000353622:E481K	ENSP00000353622:E481K	E	-	1	0	SIN3A	73481331	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.996000	0.70639	2.706000	0.92434	0.467000	0.42956	GAA		0.458	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
PTPN9	5780	broad.mit.edu	37	15	75766053	75766053	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75766053G>T	ENST00000306726.2	-	10	1697	c.1185C>A	c.(1183-1185)gtC>gtA	p.V395V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	395	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.V395V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAATCACCAAGACTTTTTGCT	0.443																																					p.V395V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1185A	15						.						173.0	168.0	170.0					15																	75766053		2197	4294	6491	73553106	SO:0001819	synonymous_variant	5780	exon10				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1185C>A	15.37:g.75766053G>T		Somatic		Capture	Illumina HiSeq	Phase_I	73553106	NM_002833	Q53XR9	Silent	SNP	ENST00000306726.2	37	CCDS10280.1																																																																																				0.443	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1		
SNX33	257364	broad.mit.edu	37	15	75942589	75942589	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:75942589G>T	ENST00000308527.5	+	1	2343	c.1146G>T	c.(1144-1146)aaG>aaT	p.K382N	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	382	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.K382N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACACTTTCAAGGCCTTCAGTA	0.567																																					p.K382N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1146T	15						.						77.0	71.0	73.0					15																	75942589		2197	4294	6491	73729644	SO:0001583	missense	257364	exon1			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1146G>T	15.37:g.75942589G>T	ENSP00000311427:p.Lys382Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73729644	NM_153271	B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345486	0.24426	.	.	ENSG00000173548	ENST00000308527	T	0.50001	0.76	5.48	4.55	0.56014	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.52126	1.63	0.80722	D	1	P;P	0.38048	0.616;0.616	B;B	0.44224	0.444;0.444	T	0.43653	-0.9378	10	0.38643	T	0.18	-20.9889	12.593	0.56453	0.0823:0.0:0.9177:0.0	.	382;382	B1NM17;Q8WV41	.;SNX33_HUMAN	N	382	ENSP00000311427:K382N	ENSP00000311427:K382N	K	+	3	2	SNX33	73729644	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.922000	0.63404	1.285000	0.44548	0.561000	0.74099	AAG		0.567	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271	
FBXO22	26263	broad.mit.edu	37	15	76209715	76209715	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:76209715G>T	ENST00000308275.3	+	5	713	c.608G>T	c.(607-609)aGa>aTa	p.R203I	FBXO22_ENST00000540507.1_Missense_Mutation_p.R99I|FBXO22_ENST00000453211.2_Missense_Mutation_p.R203I	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	203					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.R203I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACATTAGAAAGACATCAACTC	0.279																																					p.R203I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608T	15						.						35.0	40.0	39.0					15																	76209715		2196	4288	6484	73996770	SO:0001583	missense	26263	exon5			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.608G>T	15.37:g.76209715G>T	ENSP00000307833:p.Arg203Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73996770	NM_012170	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035840	0.54896	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.61	2.49	0.30216	.	0.552018	0.20207	N	0.096976	T	0.13500	0.0327	N	0.08118	0	0.09310	N	0.999998	B;B	0.32829	0.347;0.386	B;B	0.33521	0.047;0.165	T	0.10894	-1.0610	9	0.48119	T	0.1	-13.5557	3.6589	0.08232	0.0897:0.167:0.5707:0.1726	.	203;203	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	I	203;203;99	.	ENSP00000307833:R203I	R	+	2	0	FBXO22	73996770	1.000000	0.71417	0.172000	0.22920	0.980000	0.70556	1.443000	0.35057	0.702000	0.31825	0.650000	0.86243	AGA		0.279	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
FBXO22	26263	broad.mit.edu	37	15	76225214	76225214	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:76225214G>T	ENST00000308275.3	+	7	1088	c.983G>T	c.(982-984)gGc>gTc	p.G328V	FBXO22_ENST00000540507.1_Missense_Mutation_p.G224V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	328					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.G328V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCATGCGTTGGCAGGGGCTTT	0.483																																					p.G328V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983T	15						.						178.0	167.0	171.0					15																	76225214		2197	4294	6491	74012269	SO:0001583	missense	26263	exon7			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.983G>T	15.37:g.76225214G>T	ENSP00000307833:p.Gly328Val	Somatic		Capture	Illumina HiSeq	Phase_I	74012269	NM_147188	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166751	0.78339	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.52	5.52	0.82312	FIST C domain (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87610	0.2503	9	0.87932	D	0	-27.1316	14.4071	0.67090	0.0:0.1473:0.8527:0.0	.	328	Q8NEZ5	FBX22_HUMAN	V	328;224	.	ENSP00000307833:G328V	G	+	2	0	FBXO22	74012269	1.000000	0.71417	0.939000	0.37840	0.965000	0.64279	5.593000	0.67550	2.752000	0.94435	0.655000	0.94253	GGC		0.483	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
ETFA	2108	broad.mit.edu	37	15	76585032	76585032	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:76585032C>A	ENST00000557943.1	-	3	276	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	ETFA_ENST00000433983.2_Missense_Mutation_p.D17Y|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	66	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.D66Y(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTACAGAGATCTTGTGCCACC	0.353																																					p.D17Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49T	15						.						117.0	112.0	113.0					15																	76585032		2197	4294	6491	74372087	SO:0001583	missense	2108	exon2			J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.196G>T	15.37:g.76585032C>A	ENSP00000452762:p.Asp66Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74372087	NM_001127716	B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265560	0.59431	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.86769	-2.17	5.6	4.69	0.59074	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.200020	0.51477	D	0.000099	D	0.84361	0.5455	L	0.38175	1.15	0.80722	D	1	P;D;D	0.53885	0.881;0.963;0.963	B;P;P	0.46917	0.407;0.531;0.531	D	0.85764	0.1351	10	0.72032	D	0.01	-21.4422	13.4972	0.61432	0.0:0.9254:0.0:0.0746	.	17;66;66	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	Y	17;66	ENSP00000399273:D17Y	ENSP00000267950:D66Y	D	-	1	0	ETFA	74372087	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.718000	0.54919	1.373000	0.46208	0.655000	0.94253	GAT		0.353	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126	
SCAPER	49855	broad.mit.edu	37	15	76726582	76726582	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:76726582T>C	ENST00000563290.1	-	26	3243	c.3148A>G	c.(3148-3150)Aca>Gca	p.T1050A	SCAPER_ENST00000324767.7_Missense_Mutation_p.T1050A|SCAPER_ENST00000538941.2_Missense_Mutation_p.T804A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1050						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T1050A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGTCCAGTTGTCAAGCCTTCA	0.383																																					p.T804A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2410G	15						.						105.0	99.0	101.0					15																	76726582		1836	4088	5924	74513637	SO:0001583	missense	49855	exon26			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3148A>G	15.37:g.76726582T>C	ENSP00000454973:p.Thr1050Ala	Somatic		Capture	Illumina HiSeq	Phase_I	74513637	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283522	0.23392	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22743	1.94;1.96	5.83	5.83	0.93111	.	0.147414	0.64402	D	0.000010	T	0.16727	0.0402	L	0.45137	1.4	0.44871	D	0.997881	B;B	0.15141	0.007;0.012	B;B	0.17722	0.006;0.019	T	0.08953	-1.0697	10	0.10902	T	0.67	.	9.952	0.41645	0.0:0.076:0.0:0.924	.	1049;804	Q9BY12;F5H7X8	SCAPE_HUMAN;.	A	1050;804;1072	ENSP00000326924:T1050A;ENSP00000442190:T804A	ENSP00000303560:T1072A	T	-	1	0	SCAPER	74513637	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.753000	0.55180	2.222000	0.72286	0.477000	0.44152	ACA		0.383	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
SCAPER	49855	broad.mit.edu	37	15	77064115	77064115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:77064115C>A	ENST00000563290.1	-	10	1311	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.E406*|SCAPER_ENST00000538941.2_Nonsense_Mutation_p.E160*			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	406	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E406*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCATTTTCTATCCTTGCT	0.368																																					p.E160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G478T	15						.						161.0	157.0	158.0					15																	77064115		1821	4078	5899	74851170	SO:0001587	stop_gained	49855	exon10			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1216G>T	15.37:g.77064115C>A	ENSP00000454973:p.Glu406*	Somatic		Capture	Illumina HiSeq	Phase_I	74851170	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	36	5.962022	0.97151	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	.	.	.	5.67	5.67	0.87782	.	0.090749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7722	0.96370	0.0:1.0:0.0:0.0	.	.	.	.	X	406;160;422	.	ENSP00000303560:E422X	E	-	1	0	SCAPER	74851170	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	6.814000	0.75236	2.672000	0.90937	0.585000	0.79938	GAA		0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
SCAPER	49855	broad.mit.edu	37	15	77154760	77154760	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:77154760C>A	ENST00000563290.1	-	3	216	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	SCAPER_ENST00000324767.7_Missense_Mutation_p.D41Y|SCAPER_ENST00000538941.2_5'Flank			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	41						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D40Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TACATACCATCATCATCTTTG	0.353																																					p.D41Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121T	15						.						97.0	88.0	91.0					15																	77154760		1833	4087	5920	74941815	SO:0001583	missense	49855	exon2			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.121G>T	15.37:g.77154760C>A	ENSP00000454973:p.Asp41Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74941815	NM_020843	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661629	0.88154	.	.	ENSG00000140386	ENST00000324767	T	0.25414	1.8	6.08	6.08	0.98989	.	0.102270	0.64402	D	0.000003	T	0.41119	0.1145	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.60575	0.988;0.983	P;P	0.58873	0.847;0.837	T	0.08249	-1.0731	10	0.87932	D	0	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	41;56	Q6NSF1;Q9BY12-2	.;.	Y	41	ENSP00000326924:D41Y	ENSP00000326924:D41Y	D	-	1	0	SCAPER	74941815	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.237000	0.78164	2.894000	0.99253	0.591000	0.81541	GAT		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
RCN2	5955	broad.mit.edu	37	15	77241474	77241474	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:77241474C>A	ENST00000394885.3	+	7	1088	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	RCN2_ENST00000320963.5_Missense_Mutation_p.L307M|RCN2_ENST00000394883.3_Missense_Mutation_p.L188M	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	289	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)	p.L289M(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						AGAAGAGATTCTGGAAAACCC	0.383																																					p.L289M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C865A	15						.						125.0	135.0	132.0					15																	77241474		2196	4294	6490	75028529	SO:0001583	missense	5955	exon7			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.865C>A	15.37:g.77241474C>A	ENSP00000378349:p.Leu289Met	Somatic		Capture	Illumina HiSeq	Phase_I	75028529	NM_002902	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325648	0.60743	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.73575	-0.76;-0.76;-0.76	6.05	5.06	0.68205	EF-hand-like domain (1);	0.063969	0.64402	D	0.000007	T	0.69833	0.3155	L	0.46614	1.455	0.80722	D	1	P;P;B	0.41848	0.64;0.763;0.247	B;B;B	0.38428	0.27;0.232;0.273	T	0.73439	-0.3982	10	0.52906	T	0.07	-12.3101	18.0877	0.89463	0.1284:0.8716:0.0:0.0	.	188;307;289	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	M	289;307;188	ENSP00000378349:L289M;ENSP00000319739:L307M;ENSP00000378347:L188M	ENSP00000319739:L307M	L	+	1	2	RCN2	75028529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.768000	0.47645	2.878000	0.98634	0.650000	0.86243	CTG		0.383	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902	
HMG20A	10363	broad.mit.edu	37	15	77769956	77769956	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:77769956C>A	ENST00000381714.3	+	8	1103	c.675C>A	c.(673-675)ttC>ttA	p.F225L	HMG20A_ENST00000336216.4_Missense_Mutation_p.F225L	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	225					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F225L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGGAATTCTTGAACCATA	0.343																																					p.F225L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C675A	15						.						90.0	90.0	90.0					15																	77769956		2196	4294	6490	75557011	SO:0001583	missense	10363	exon8			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.675C>A	15.37:g.77769956C>A	ENSP00000371133:p.Phe225Leu	Somatic		Capture	Illumina HiSeq	Phase_I	75557011	NM_018200	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026528	0.75390	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.73363	-0.74;-0.74	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86005	0.1497	10	0.44086	T	0.13	-13.1438	10.3474	0.43913	0.0:0.7969:0.0:0.2031	.	225	Q9NP66	HM20A_HUMAN	L	225	ENSP00000336856:F225L;ENSP00000371133:F225L	ENSP00000336856:F225L	F	+	3	2	HMG20A	75557011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.998000	0.40796	1.568000	0.49683	0.563000	0.77884	TTC		0.343	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200	
LINGO1	84894	broad.mit.edu	37	15	77907601	77907601	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:77907601G>A	ENST00000355300.6	-	2	822	c.648C>T	c.(646-648)ggC>ggT	p.G216G	LINGO1_ENST00000561030.1_Silent_p.G210G	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	216					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G210G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGACGATGAGGCCGTGCAGGT	0.617																																					p.G216G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	15						.						108.0	118.0	115.0					15																	77907601		2178	4273	6451	75694656	SO:0001819	synonymous_variant	84894	exon2			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.648C>T	15.37:g.77907601G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75694656	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	CCDS45313.1																																																																																				0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
ACSBG1	23205	broad.mit.edu	37	15	78471970	78471970	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:78471970C>T	ENST00000258873.4	-	10	1611	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R227H|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R227H	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	469					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R469H(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CGCATACAAGCGGATGTTGAG	0.577																																					p.R465H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	15						.						76.0	69.0	71.0					15																	78471970		2196	4293	6489	76259025	SO:0001583	missense	23205	exon10			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1406G>A	15.37:g.78471970C>T	ENSP00000258873:p.Arg469His	Somatic		Capture	Illumina HiSeq	Phase_I	76259025	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918835	0.52546	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.44083	0.93;0.93	5.05	4.14	0.48551	AMP-dependent synthetase/ligase (1);	0.367487	0.25906	N	0.027522	T	0.32346	0.0826	L	0.42487	1.325	0.37544	D	0.91843	B;B	0.19445	0.036;0.001	B;B	0.18561	0.022;0.009	T	0.20075	-1.0286	10	0.34782	T	0.22	-25.4189	7.9225	0.29854	0.0:0.636:0.2749:0.0891	.	465;469	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	H	469;227	ENSP00000258873:R469H;ENSP00000439955:R227H	ENSP00000258873:R469H	R	-	2	0	ACSBG1	76259025	0.742000	0.28228	0.994000	0.49952	0.951000	0.60555	0.931000	0.28871	1.126000	0.42016	0.650000	0.86243	CGC		0.577	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
ACSBG1	23205	broad.mit.edu	37	15	78475112	78475112	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:78475112G>A	ENST00000258873.4	-	6	884	c.679C>T	c.(679-681)Cca>Tca	p.P227S	ACSBG1_ENST00000560817.1_5'UTR|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	227					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.P227S(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTTAGATGTGGCAACTGTTTC	0.493																																					p.P223S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	15						.						113.0	104.0	107.0					15																	78475112		2196	4293	6489	76262167	SO:0001583	missense	23205	exon6			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.679C>T	15.37:g.78475112G>A	ENSP00000258873:p.Pro227Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76262167	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838597	0.91117	.	.	ENSG00000103740	ENST00000258873	T	0.13420	2.59	5.49	5.49	0.81192	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	M	0.75884	2.315	0.80722	D	1	P;P	0.51240	0.943;0.933	P;P	0.58391	0.733;0.838	T	0.06144	-1.0843	10	0.66056	D	0.02	-13.3883	18.385	0.90464	0.0:0.0:1.0:0.0	.	223;227	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	S	227	ENSP00000258873:P227S	ENSP00000258873:P227S	P	-	1	0	ACSBG1	76262167	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	9.070000	0.93974	2.565000	0.86533	0.655000	0.94253	CCA		0.493	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
ACSBG1	23205	broad.mit.edu	37	15	78526746	78526746	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:78526746A>T	ENST00000258873.4	-	1	303	c.98T>A	c.(97-99)aTt>aAt	p.I33N	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_De_novo_Start_OutOfFrame	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	33					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.I33N(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGTCCTCACAATCATGTCCTG	0.557																																					p.I33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T98A	15						.						210.0	219.0	216.0					15																	78526746		2196	4293	6489	76313801	SO:0001583	missense	23205	exon1			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.98T>A	15.37:g.78526746A>T	ENSP00000258873:p.Ile33Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76313801	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	A	3.941	-0.014195	0.07681	.	.	ENSG00000103740	ENST00000258873	T	0.27890	1.64	4.36	-3.98	0.04082	.	0.805832	0.10777	N	0.635359	T	0.10035	0.0246	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27938	-1.0059	10	0.15066	T	0.55	-3.8069	1.2789	0.02037	0.3809:0.249:0.2148:0.1553	.	33;33	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	N	33	ENSP00000258873:I33N	ENSP00000258873:I33N	I	-	2	0	ACSBG1	76313801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.336000	0.02660	-1.357000	0.02180	-4.147000	0.00010	ATT		0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
IREB2	3658	broad.mit.edu	37	15	78755408	78755408	+	Missense_Mutation	SNP	G	G	A	rs142659017		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:78755408G>A	ENST00000258886.8	+	3	400	c.251G>A	c.(250-252)cGt>cAt	p.R84H	IREB2_ENST00000560440.1_Missense_Mutation_p.R84H	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	84					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.R84H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTCCCTGCCCGTGTTCTTCTT	0.358																																					p.R84H	NSCLC(200;764 2208 35157 49871 50830)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	15						.	G	HIS/ARG	0,4392		0,0,2196	206.0	193.0	198.0		251	5.9	1.0	15	dbSNP_134	198	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	29	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/964	78755408	1,12977	2196	4293	6489	76542463	SO:0001583	missense	3658	exon3			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.251G>A	15.37:g.78755408G>A	ENSP00000258886:p.Arg84His	Somatic		Capture	Illumina HiSeq	Phase_I	76542463	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	36	5.782699	0.96937	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.58940	0.3	5.87	5.87	0.94306	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86466	0.1782	10	0.87932	D	0	-7.3782	20.5827	0.99408	0.0:0.0:1.0:0.0	.	84;84	P48200;Q8WVK6	IREB2_HUMAN;.	H	84	ENSP00000258886:R84H	ENSP00000258886:R84H	R	+	2	0	IREB2	76542463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.707000	0.84623	2.941000	0.99782	0.655000	0.94253	CGT		0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
CHRNA5	1138	broad.mit.edu	37	15	78880727	78880727	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:78880727A>C	ENST00000299565.5	+	4	575	c.375A>C	c.(373-375)tcA>tcC	p.S125S	CHRNA5_ENST00000559554.1_Silent_p.S125S|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	125					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.S125S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	GTGTTCCTTCAGACTCTGTCT	0.299																																					p.S125S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A375C	15						.						95.0	95.0	95.0					15																	78880727		2196	4293	6489	76667782	SO:0001819	synonymous_variant	1138	exon4				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.375A>C	15.37:g.78880727A>C		Somatic		Capture	Illumina HiSeq	Phase_I	76667782	NM_000745	Q15824|Q99554	Silent	SNP	ENST00000299565.5	37	CCDS10304.1																																																																																				0.299	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1		
KIAA1024	23251	broad.mit.edu	37	15	79748612	79748612	+	Silent	SNP	G	G	A	rs146044996		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:79748612G>A	ENST00000305428.3	+	2	198	c.123G>A	c.(121-123)tcG>tcA	p.S41S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	41						integral component of membrane (GO:0016021)		p.S41S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGACCTGTCGCAGCTTGCCA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		17134	0.0		0.001	False		,,,				2504	0.0				p.S41S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G123A	15						.						120.0	113.0	116.0					15																	79748612		2196	4293	6489	77535667	SO:0001819	synonymous_variant	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.123G>A	15.37:g.79748612G>A		Somatic		Capture	Illumina HiSeq	Phase_I	77535667	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
KIAA1024	23251	broad.mit.edu	37	15	79749656	79749656	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:79749656C>T	ENST00000305428.3	+	2	1242	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	389						integral component of membrane (GO:0016021)		p.S389S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAATCCCTCCGAGGAGAAGC	0.517																																					p.S389S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	15						.						59.0	70.0	66.0					15																	79749656		2196	4293	6489	77536711	SO:0001819	synonymous_variant	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1167C>T	15.37:g.79749656C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77536711	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.517	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
BCL2A1	597	broad.mit.edu	37	15	80263051	80263051	+	Silent	SNP	G	G	A	rs147879852		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:80263051G>A	ENST00000267953.3	-	1	737	c.411C>T	c.(409-411)aaC>aaT	p.N137N	BCL2A1_ENST00000335661.6_Silent_p.N137N	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	137					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N137N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCAGCCTCCGTTTTGCCTTA	0.368																																					p.N137N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	15						.	G	,	0,4406		0,0,2203	111.0	116.0	114.0		411,411	-8.2	0.1	15	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BCL2A1	NM_001114735.1,NM_004049.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	137/164,137/176	80263051	2,13004	2203	4300	6503	78050106	SO:0001819	synonymous_variant	597	exon1				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.411C>T	15.37:g.80263051G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78050106	NM_004049	Q6FGZ4|Q6FH19|Q86W13|Q99524	Silent	SNP	ENST00000267953.3	37	CCDS10312.1																																																																																				0.368	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049	
FAH	2184	broad.mit.edu	37	15	80467417	80467417	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:80467417C>A	ENST00000407106.1	+	11	1052	c.897C>A	c.(895-897)ctC>ctA	p.L299L	FAH_ENST00000539156.1_Silent_p.L229L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.L299L|FAH_ENST00000261755.5_Silent_p.L299L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	299					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.L299L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATCAACCTCTCTGTTAACC	0.562									Tyrosinemia, type 1																												p.L299L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897A	15						.						177.0	148.0	158.0					15																	80467417		2203	4300	6503	78254472	SO:0001819	synonymous_variant	2184	exon10	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.897C>A	15.37:g.80467417C>A		Somatic		Capture	Illumina HiSeq	Phase_I	78254472	NM_000137	B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	CCDS10314.1																																																																																				0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		
C15orf26	161502	broad.mit.edu	37	15	81427649	81427649	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:81427649G>A	ENST00000286732.4	+	2	191	c.108G>A	c.(106-108)ggG>ggA	p.G36G		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	36								p.G36G(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GAGACAAGGGGAAACTTCTCA	0.318																																					p.G36G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	15						.						72.0	77.0	75.0					15																	81427649		1789	4069	5858	79214704	SO:0001819	synonymous_variant	161502	exon2			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.108G>A	15.37:g.81427649G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79214704	NM_173528	Q8N906	Silent	SNP	ENST00000286732.4	37	CCDS42068.1																																																																																				0.318	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
C15orf26	161502	broad.mit.edu	37	15	81440261	81440261	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:81440261T>C	ENST00000286732.4	+	6	782	c.699T>C	c.(697-699)caT>caC	p.H233H		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	233								p.H233H(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCCACCGGCATCTTTTCTTAA	0.398																																					p.H233H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T699C	15						.						58.0	58.0	58.0					15																	81440261		1824	4082	5906	79227316	SO:0001819	synonymous_variant	161502	exon6			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.699T>C	15.37:g.81440261T>C		Somatic		Capture	Illumina HiSeq	Phase_I	79227316	NM_173528	Q8N906	Silent	SNP	ENST00000286732.4	37	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.477546	0.01035	.	.	ENSG00000156206	ENST00000398681	.	.	.	4.23	-7.5	0.01351	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.57636	-0.7777	5	0.87932	D	0	-23.4359	10.6552	0.45671	0.0:0.5118:0.335:0.1532	.	.	.	.	T	197	.	ENSP00000381671:I197T	I	+	2	0	C15orf26	79227316	0.012000	0.17670	0.002000	0.10522	0.011000	0.07611	-0.733000	0.04898	-1.566000	0.01673	-0.912000	0.02778	ATC		0.398	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
IL16	3603	broad.mit.edu	37	15	81562001	81562001	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:81562001T>G	ENST00000302987.4	+	4	675				IL16_ENST00000394660.2_Intron			Q14005	IL16_HUMAN	interleukin 16						immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGAAGGGATTGTGGCCAAC	0.602																																					.												.	.	0			.	15						.						69.0	72.0	71.0					15																	81562001		1960	4150	6110	79349056	SO:0001627	intron_variant	3603	.			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.675+12T>G	15.37:g.81562001T>G		Somatic		Capture	Illumina HiSeq	Phase_I	79349056	.	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Intron	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.602	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
STARD5	80765	broad.mit.edu	37	15	81610767	81610767	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:81610767G>A	ENST00000302824.6	-	5	502	c.477C>T	c.(475-477)ttC>ttT	p.F159F	STARD5_ENST00000559913.1_5'Flank	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	159	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.F159F(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GAGGTTCACAGAAGCAACCAC	0.502																																					p.F159F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	15						.						110.0	94.0	99.0					15																	81610767		2203	4300	6503	79397822	SO:0001819	synonymous_variant	80765	exon5			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.477C>T	15.37:g.81610767G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79397822	NM_181900	P59094	Silent	SNP	ENST00000302824.6	37	CCDS10318.1																																																																																				0.502	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2		
TMC3	342125	broad.mit.edu	37	15	81636260	81636260	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:81636260A>C	ENST00000359440.5	-	14	1780	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.F550V|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.F549V(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTACTTACAAACTTGCTCTCC	0.473																																					p.F549V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1645G	15						.						82.0	77.0	78.0					15																	81636260		1945	4156	6101	79423315	SO:0001583	missense	342125	exon14			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1645T>G	15.37:g.81636260A>C	ENSP00000352413:p.Phe549Val	Somatic		Capture	Illumina HiSeq	Phase_I	79423315	NM_001080532		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607645	0.87157	.	.	ENSG00000188869	ENST00000359440	T	0.62639	0.01	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.975;0.99	T	0.81775	-0.0778	10	0.87932	D	0	-19.5003	15.5764	0.76392	1.0:0.0:0.0:0.0	.	549;549	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	549	ENSP00000352413:F549V	ENSP00000352413:F549V	F	-	1	0	TMC3	79423315	1.000000	0.71417	0.993000	0.49108	0.766000	0.43426	7.094000	0.76944	2.064000	0.61679	0.477000	0.44152	TTT		0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
EFTUD1	79631	broad.mit.edu	37	15	82444299	82444299	+	Silent	SNP	C	C	T	rs555711439		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:82444299C>T	ENST00000268206.7	-	18	2664	c.2496G>A	c.(2494-2496)ggG>ggA	p.G832G	EFTUD1_ENST00000359445.3_Silent_p.G781G	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	832					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.G832G(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTATGTTGGGCCCACATTTTC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		2561	0.0		0.0	False		,,,				2504	0.0				p.G832G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2496A	15						.						56.0	53.0	54.0					15																	82444299		1876	4101	5977	80231354	SO:0001819	synonymous_variant	79631	exon18			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2496G>A	15.37:g.82444299C>T		Somatic		Capture	Illumina HiSeq	Phase_I	80231354	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																				0.418	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
FAM154B	283726	broad.mit.edu	37	15	82575237	82575237	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:82575237C>A	ENST00000339465.5	+	3	1100	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	FAM154B_ENST00000427381.2_Missense_Mutation_p.S329Y|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	344								p.S344Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTTAAGAGTTCTGTTCCATTT	0.398																																					p.S344Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031A	15						.						59.0	61.0	60.0					15																	82575237		2203	4298	6501	80362292	SO:0001583	missense	283726	exon3			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1031C>A	15.37:g.82575237C>A	ENSP00000340445:p.Ser344Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	80362292	NM_001008226	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554278	0.45487	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17528	2.27;2.27	4.22	3.25	0.37280	.	0.860839	0.09933	N	0.736924	T	0.34687	0.0906	M	0.65975	2.015	0.09310	N	1	D;D	0.67145	0.996;0.991	D;D	0.63381	0.914;0.913	T	0.09058	-1.0692	10	0.46703	T	0.11	-5.4179	7.9081	0.29774	0.1615:0.7492:0.0:0.0893	.	329;344	B4E2M2;Q658L1	.;F154B_HUMAN	Y	344;329	ENSP00000340445:S344Y;ENSP00000403743:S329Y	ENSP00000340445:S344Y	S	+	2	0	FAM154B	80362292	0.000000	0.05858	0.001000	0.08648	0.243000	0.25628	0.686000	0.25392	0.817000	0.34445	0.404000	0.27445	TCT		0.398	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
CPEB1	64506	broad.mit.edu	37	15	83218322	83218322	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83218322G>A	ENST00000562019.1	-	9	1618	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	CPEB1_ENST00000563800.1_Silent_p.V456V|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.S164L|CPEB1_ENST00000398591.2_Silent_p.V359V|CPEB1_ENST00000564522.1_Silent_p.V354V|CPEB1_ENST00000568128.1_Silent_p.V429V|CPEB1_ENST00000450751.2_Silent_p.V354V|CPEB1_ENST00000423133.2_Silent_p.V354V|CPEB1_ENST00000398592.2_Silent_p.V203V|CPEB1_ENST00000261723.6_Silent_p.V432V|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.V354V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	434	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.V359V(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGAGCACCGACAAACACCG	0.542																																					p.V354V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	15						.						73.0	73.0	73.0					15																	83218322		2022	4182	6204	81015377	SO:0001819	synonymous_variant	64506	exon7			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1302C>T	15.37:g.83218322G>A		Somatic		Capture	Illumina HiSeq	Phase_I	81015377	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Silent	SNP	ENST00000562019.1	37																																																																																					0.542	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
AP3B2	8120	broad.mit.edu	37	15	83335691	83335691	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83335691G>T	ENST00000261722.3	-	15	1873				AP3B2_ENST00000535359.1_Intron|AP3B2_ENST00000535348.1_Intron|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.?(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGGTCTGGAGGAACAGGAAG	0.562																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						68.0	73.0	71.0					15																	83335691		1986	4164	6150	81132746	SO:0001627	intron_variant	8120	.			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1666-6C>A	15.37:g.83335691G>T		Somatic		Capture	Illumina HiSeq	Phase_I	81132746	.	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Intron	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																				0.562	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
WHAMM	123720	broad.mit.edu	37	15	83495579	83495579	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83495579G>A	ENST00000286760.4	+	8	1721	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	541	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.R541Q(2)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ACACTCCAACGATTGAGATCA	0.313																																					p.R541Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1622A	15						.						56.0	50.0	52.0					15																	83495579		1738	3873	5611	81292633	SO:0001583	missense	123720	exon8			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1622G>A	15.37:g.83495579G>A	ENSP00000286760:p.Arg541Gln	Somatic		Capture	Illumina HiSeq	Phase_I	81292633	NM_001080435	Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295687	0.95574	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08370	3.1	5.8	5.8	0.92144	.	0.117191	0.56097	D	0.000031	T	0.34077	0.0885	M	0.80982	2.52	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.02975	-1.1087	10	0.87932	D	0	.	19.0392	0.92991	0.0:0.0:1.0:0.0	.	541	Q8TF30	WHAMM_HUMAN	Q	541	ENSP00000286760:R541Q	ENSP00000234505:R541Q	R	+	2	0	WHAMM	81292633	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	6.785000	0.75089	2.740000	0.93945	0.650000	0.86243	CGA		0.313	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
BNC1	646	broad.mit.edu	37	15	83926262	83926262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83926262G>A	ENST00000345382.2	-	5	3002	c.2917C>T	c.(2917-2919)Cga>Tga	p.R973*	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Nonsense_Mutation_p.R966*	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	973					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)	p.R973*(1)		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						TGTCTGTTTCGACTGCGAACA	0.507																																					p.R973X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2917T	15						.						161.0	155.0	157.0					15																	83926262		2203	4300	6503	81717266	SO:0001587	stop_gained	646	exon5			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.2917C>T	15.37:g.83926262G>A	ENSP00000307041:p.Arg973*	Somatic		Capture	Illumina HiSeq	Phase_I	81717266	NM_001717	Q15840	Nonsense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	39	7.412661	0.98269	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	.	.	.	5.93	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4338	15.0864	0.72158	0.0:0.0:0.624:0.376	.	.	.	.	X	973;966	.	ENSP00000307041:R973X	R	-	1	2	BNC1	81717266	1.000000	0.71417	0.614000	0.29051	0.998000	0.95712	3.037000	0.49775	0.347000	0.23924	0.557000	0.71058	CGA		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
BNC1	646	broad.mit.edu	37	15	83931808	83931808	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83931808G>T	ENST00000345382.2	-	4	2280	c.2195C>A	c.(2194-2196)gCt>gAt	p.A732D	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A725D	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	732					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)	p.A732D(1)		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						CACACTACAAGCATTTTTAAA	0.443																																					p.A732D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2195A	15						.						111.0	102.0	105.0					15																	83931808		2203	4300	6503	81722812	SO:0001583	missense	646	exon4			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.2195C>A	15.37:g.83931808G>T	ENSP00000307041:p.Ala732Asp	Somatic		Capture	Illumina HiSeq	Phase_I	81722812	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949506	0.53186	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.61274	0.12	5.55	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.248415	0.39834	N	0.001260	T	0.59390	0.2190	L	0.57536	1.79	0.35353	D	0.787511	P;P	0.41848	0.763;0.651	P;B	0.44897	0.463;0.115	T	0.68769	-0.5321	10	0.36615	T	0.2	-11.3239	14.5972	0.68415	0.0702:0.0:0.9298:0.0	.	725;732	F5GY04;Q01954	.;BNC1_HUMAN	D	732;725	ENSP00000307041:A732D	ENSP00000307041:A732D	A	-	2	0	BNC1	81722812	1.000000	0.71417	0.739000	0.30968	0.865000	0.49528	7.849000	0.86908	1.332000	0.45431	0.655000	0.94253	GCT		0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
BNC1	646	broad.mit.edu	37	15	83932149	83932149	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83932149A>T	ENST00000345382.2	-	4	1939	c.1854T>A	c.(1852-1854)agT>agA	p.S618R	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S611R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	618					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)	p.S618R(1)		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						TGATGGCTCCACTGGACTCAA	0.547																																					p.S618R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1854A	15						.						127.0	122.0	123.0					15																	83932149		2203	4300	6503	81723153	SO:0001583	missense	646	exon4			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.1854T>A	15.37:g.83932149A>T	ENSP00000307041:p.Ser618Arg	Somatic		Capture	Illumina HiSeq	Phase_I	81723153	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	1.280	-0.610678	0.03690	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.42900	0.96	3.93	-4.83	0.03161	.	1.142920	0.06173	N	0.678000	T	0.32010	0.0815	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.26360	-1.0105	10	0.18276	T	0.48	-0.0294	7.1616	0.25667	0.5271:0.1162:0.3567:0.0	.	611;618	F5GY04;Q01954	.;BNC1_HUMAN	R	618;611	ENSP00000307041:S618R	ENSP00000307041:S618R	S	-	3	2	BNC1	81723153	0.000000	0.05858	0.000000	0.03702	0.327000	0.28475	-0.026000	0.12392	-1.003000	0.03425	-0.256000	0.11100	AGT		0.547	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
BNC1	646	broad.mit.edu	37	15	83932358	83932358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:83932358C>A	ENST00000345382.2	-	4	1730	c.1645G>T	c.(1645-1647)Gaa>Taa	p.E549*	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Nonsense_Mutation_p.E542*	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	549					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)	p.E549*(1)		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						TCCACAGCTTCTTTCTCTATT	0.458																																					p.E549X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1645T	15						.						165.0	157.0	160.0					15																	83932358		2203	4300	6503	81723362	SO:0001587	stop_gained	646	exon4			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.1645G>T	15.37:g.83932358C>A	ENSP00000307041:p.Glu549*	Somatic		Capture	Illumina HiSeq	Phase_I	81723362	NM_001717	Q15840	Nonsense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	37	6.621084	0.97714	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	.	.	.	5.14	5.14	0.70334	.	0.117810	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4577	18.7948	0.91990	0.0:1.0:0.0:0.0	.	.	.	.	X	549;542	.	ENSP00000307041:E549X	E	-	1	0	BNC1	81723362	1.000000	0.71417	0.982000	0.44146	0.777000	0.43975	7.480000	0.81109	2.666000	0.90696	0.655000	0.94253	GAA		0.458	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SH3GL3	6457	broad.mit.edu	37	15	84159577	84159577	+	Intron	SNP	G	G	T	rs369812294		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:84159577G>T	ENST00000427482.2	+	1	351				SH3GL3_ENST00000324537.5_5'UTR|SH3GL3_ENST00000434347.1_5'Flank|SH3GL3_ENST00000535412.1_Intron	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TAAATCAGAAGATGAATGAAT	0.363																																					.												.	.	0			.	15						.						111.0	108.0	109.0					15																	84159577		2203	4300	6503	81950581	SO:0001627	intron_variant	6457	.			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.45+43247G>T	15.37:g.84159577G>T		Somatic		Capture	Illumina HiSeq	Phase_I	81950581	.	O43553|O43554	5'UTR	SNP	ENST00000427482.2	37	CCDS10325.2																																																																																				0.363	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
SH3GL3	6457	broad.mit.edu	37	15	84237317	84237317	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:84237317C>T	ENST00000427482.2	+	4	530	c.224C>T	c.(223-225)tCg>tTg	p.S75L	SH3GL3_ENST00000324537.5_Missense_Mutation_p.S83L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.S83L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S75L	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	75	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.S83L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AACACTGTGTCGAAGATCCGA	0.473																																					p.S75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	15						.						83.0	81.0	82.0					15																	84237317		2203	4300	6503	82028321	SO:0001583	missense	6457	exon4			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.224C>T	15.37:g.84237317C>T	ENSP00000391372:p.Ser75Leu	Somatic		Capture	Illumina HiSeq	Phase_I	82028321	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307277	0.81247	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.86	2.94	0.34122	BAR (3);	0.129734	0.53938	N	0.000060	T	0.47414	0.1444	M	0.89287	3.02	0.80722	D	1	B;P;P	0.46912	0.208;0.802;0.886	B;P;B	0.44422	0.022;0.449;0.317	T	0.59144	-0.7509	10	0.62326	D	0.03	-11.0751	11.1054	0.48199	0.0:0.8394:0.0:0.1606	.	75;75;83	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	L	75;75;83;83	ENSP00000391372:S75L;ENSP00000439239:S75L;ENSP00000320092:S83L;ENSP00000397871:S83L	ENSP00000320092:S83L	S	+	2	0	SH3GL3	82028321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.729000	0.68538	1.171000	0.42768	0.544000	0.68410	TCG		0.473	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
ADAMTSL3	57188	broad.mit.edu	37	15	84705707	84705707	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:84705707C>A	ENST00000286744.5	+	29	5161	c.4937C>A	c.(4936-4938)tCc>tAc	p.S1646Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1646Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1646						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1646Y(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAACCAATTTCCTGGCGGCAC	0.527																																					p.S1646Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4937A	15						.						86.0	81.0	83.0					15																	84705707		2203	4299	6502	82496711	SO:0001583	missense	57188	exon29			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4937C>A	15.37:g.84705707C>A	ENSP00000286744:p.Ser1646Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	82496711	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930950	0.73327	.	.	ENSG00000156218	ENST00000286744	T	0.61627	0.09	5.19	4.22	0.49857	.	1.992600	0.02946	N	0.141049	T	0.77837	0.4190	M	0.89030	3	0.28976	N	0.888956	P;P	0.52692	0.955;0.924	P;P	0.51135	0.66;0.459	T	0.68857	-0.5298	10	0.72032	D	0.01	.	16.3263	0.82983	0.0:0.7709:0.2291:0.0	.	1646;1646	P82987-2;P82987	.;ATL3_HUMAN	Y	1646	ENSP00000286744:S1646Y	ENSP00000286744:S1646Y	S	+	2	0	ADAMTSL3	82496711	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	3.771000	0.55318	2.591000	0.87537	0.655000	0.94253	TCC		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
WDR73	84942	broad.mit.edu	37	15	85189529	85189529	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:85189529G>T	ENST00000434634.2	-	6	463	c.403C>A	c.(403-405)Ctc>Atc	p.L135I	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	135								p.L135I(1)		cervix(1)|large_intestine(1)|lung(1)	3						CTAGGCCAGAGACTCTCCTCT	0.527																																					p.L135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	15						.						70.0	72.0	71.0					15																	85189529		1953	4168	6121	82990533	SO:0001583	missense	84942	exon6			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.403C>A	15.37:g.85189529G>T	ENSP00000387982:p.Leu135Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82990533	NM_032856	Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923346	0.73213	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.29142	1.58	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.739518	0.13416	N	0.389486	T	0.50871	0.1641	L	0.53249	1.67	0.29243	N	0.872506	D;P	0.76494	0.999;0.933	D;P	0.65684	0.937;0.528	T	0.42085	-0.9472	10	0.44086	T	0.13	-7.0661	16.0731	0.80948	0.0:0.0:1.0:0.0	.	135;135	B4DI20;Q6P4I2	.;WDR73_HUMAN	I	143;135	ENSP00000387982:L135I	ENSP00000381539:L143I	L	-	1	0	WDR73	82990533	0.948000	0.32251	0.974000	0.42286	0.468000	0.32798	1.626000	0.37039	2.941000	0.99782	0.655000	0.94253	CTC		0.527	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856	
SLC28A1	9154	broad.mit.edu	37	15	85438639	85438639	+	Intron	SNP	G	G	A	rs373413971		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:85438639G>A	ENST00000286749.3	+	5	551				SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537703.1_Intron|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000338602.2_Silent_p.P164P|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000394573.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.P164P(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AGGAGGGCCCGAATCAGTACC	0.572																																					p.P164P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	15						.	G	,	0,4406		0,0,2203	71.0	59.0	63.0		,492	-6.3	0.0	15		63	1,8597	1.2+/-3.3	0,1,4298	no	intron,coding-synonymous	SLC28A1	NM_004213.3,NM_201651.1	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	,164/176	85438639	1,13003	2203	4299	6502	83239643	SO:0001627	intron_variant	9154	exon7			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.461+285G>A	15.37:g.85438639G>A		Somatic		Capture	Illumina HiSeq	Phase_I	83239643	NM_201651	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																				0.572	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
PDE8A	5151	broad.mit.edu	37	15	85669526	85669526	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:85669526C>T	ENST00000310298.4	+	21	2426	c.2174C>T	c.(2173-2175)gCt>gTt	p.A725V	PDE8A_ENST00000339708.5_Missense_Mutation_p.A679V|PDE8A_ENST00000394553.1_Missense_Mutation_p.A725V|PDE8A_ENST00000557957.1_Missense_Mutation_p.A653V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	725	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A725V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATTAAATGTGCTGATGTGTCC	0.448																																					p.A725V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2174T	15						.						111.0	104.0	106.0					15																	85669526		2203	4299	6502	83470530	SO:0001583	missense	5151	exon20			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2174C>T	15.37:g.85669526C>T	ENSP00000311453:p.Ala725Val	Somatic		Capture	Illumina HiSeq	Phase_I	83470530	NM_002605	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375894	0.82682	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	D;D;D	0.86297	-2.1;-2.1;-2.1	5.27	5.27	0.74061	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.111102	0.64402	D	0.000011	D	0.95837	0.8645	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	D	0.96936	0.9684	10	0.87932	D	0	.	16.4992	0.84253	0.0:1.0:0.0:0.0	.	679;725	O60658-2;O60658	.;PDE8A_HUMAN	V	725;725;679	ENSP00000311453:A725V;ENSP00000378056:A725V;ENSP00000340679:A679V	ENSP00000311453:A725V	A	+	2	0	PDE8A	83470530	1.000000	0.71417	0.655000	0.29622	0.383000	0.30230	5.630000	0.67805	2.751000	0.94390	0.644000	0.83932	GCT		0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
AKAP13	11214	broad.mit.edu	37	15	86225414	86225414	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:86225414C>A	ENST00000394518.2	+	15	5222	c.5127C>A	c.(5125-5127)ttC>ttA	p.F1709L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F1713L|AKAP13_ENST00000394510.2_5'UTR|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	1709					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)	p.F1713L(1)		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						ACAGTACCTTCCACAATACCA	0.328																																					p.F1713L	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5139A	15						.						104.0	96.0	99.0					15																	86225414		2202	4299	6501	84026418	SO:0001583	missense	11214	exon15			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.5127C>A	15.37:g.86225414C>A	ENSP00000378026:p.Phe1709Leu	Somatic		Capture	Illumina HiSeq	Phase_I	84026418	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227127	0.58668	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.15017	2.46;2.59	5.53	4.61	0.57282	.	.	.	.	.	T	0.18341	0.0440	N	0.03608	-0.345	0.80722	D	1	D;D;D	0.76494	0.974;0.999;0.999	D;D;D	0.83275	0.969;0.991;0.996	T	0.27739	-1.0065	9	0.66056	D	0.02	.	10.0711	0.42332	0.0:0.9084:0.0:0.0916	.	1691;1709;1713	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	L	1713;1709;1712;1690;331	ENSP00000354718:F1713L;ENSP00000378026:F1709L	ENSP00000354718:F1713L	F	+	3	2	AKAP13	84026418	0.698000	0.27777	0.999000	0.59377	0.984000	0.73092	0.305000	0.19254	1.339000	0.45563	0.655000	0.94253	TTC		0.328	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
AGBL1	123624	broad.mit.edu	37	15	87531329	87531329	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:87531329T>C	ENST00000441037.2	+	23	3280				RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cgtgagtatgtcagtttcctg	0.438																																					.												.	.	0			.	15						.						176.0	167.0	170.0					15																	87531329		1894	4107	6001	85332333	SO:0001627	intron_variant	123624	.			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3185+10T>C	15.37:g.87531329T>C		Somatic		Capture	Illumina HiSeq	Phase_I	85332333	.	A1A4X5|A6NJH6|C9JHL5	Intron	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NTRK3	4916	broad.mit.edu	37	15	88483985	88483985	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:88483985C>A	ENST00000360948.2	-	14	1747		c.e14-1		NTRK3_ENST00000357724.2_Splice_Site|NTRK3_ENST00000394480.2_Splice_Site|NTRK3_ENST00000557856.1_Splice_Site|NTRK3_ENST00000558676.1_Splice_Site|NTRK3_ENST00000542733.2_Splice_Site|NTRK3_ENST00000355254.2_Splice_Site	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCACATCTGTAGGATGG	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											.			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	2	Unknown(2)	large_intestine(2)	.	15						.						173.0	147.0	156.0					15																	88483985		2201	4299	6500	86284989	SO:0001630	splice_region_variant	4916	.			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-1G>T	15.37:g.88483985C>A		Somatic		Capture	Illumina HiSeq	Phase_I	86284989	.	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Splice_Site	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846659	0.71603	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9041	0.88913	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NTRK3	86284989	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.556000	0.82233	2.477000	0.83638	0.655000	0.94253	.		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron
NTRK3	4916	broad.mit.edu	37	15	88670452	88670452	+	Missense_Mutation	SNP	C	C	T	rs143617169		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:88670452C>T	ENST00000360948.2	-	11	1395	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	NTRK3_ENST00000357724.2_Missense_Mutation_p.E404K|NTRK3_ENST00000394480.2_Missense_Mutation_p.E412K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E404K|NTRK3_ENST00000558676.1_Missense_Mutation_p.E404K|NTRK3_ENST00000558306.1_5'Flank|NTRK3_ENST00000540489.2_Missense_Mutation_p.E412K|NTRK3_ENST00000542733.2_Missense_Mutation_p.E314K|NTRK3_ENST00000317501.3_Missense_Mutation_p.E412K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E412K	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	412					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E412K(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGACTCACTTCGTCAACTGAA	0.527			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.E412K			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1234A	15						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4402		0,0,2201	141.0	122.0	128.0		1234,1234,1234	5.5	0.7	15	dbSNP_134	128	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	56,56,56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	412/613,412/840,412/826	88670452	1,12999	2201	4299	6500	86471456	SO:0001583	missense	4916	exon11			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1234G>A	15.37:g.88670452C>T	ENSP00000354207:p.Glu412Lys	Somatic		Capture	Illumina HiSeq	Phase_I	86471456	NM_001007156	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900013	0.33535	0.0	1.16E-4	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73258	-0.73;-0.69;-0.69;-0.73;-0.6;0.15;0.15	5.51	5.51	0.81932	.	0.864073	0.10716	N	0.642324	T	0.47673	0.1458	N	0.04959	-0.14	0.33104	D	0.53956	P;B;B;B;P;B	0.40332	0.53;0.005;0.011;0.007;0.713;0.027	B;B;B;B;B;B	0.27170	0.025;0.001;0.006;0.002;0.077;0.006	T	0.55798	-0.8084	10	0.23302	T	0.38	.	16.5703	0.84609	0.0:1.0:0.0:0.0	.	314;404;404;412;412;412	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	K	412;412;404;412;314;412;412	ENSP00000377990:E412K;ENSP00000354207:E412K;ENSP00000350356:E404K;ENSP00000347397:E412K;ENSP00000437773:E314K;ENSP00000444673:E412K;ENSP00000318328:E412K	ENSP00000318328:E412K	E	-	1	0	NTRK3	86471456	0.998000	0.40836	0.731000	0.30826	0.807000	0.45602	4.827000	0.62723	2.585000	0.87301	0.561000	0.74099	GAA		0.527	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
NTRK3	4916	broad.mit.edu	37	15	88679836	88679836	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:88679836A>G	ENST00000360948.2	-	7	788	c.627T>C	c.(625-627)ctT>ctC	p.L209L	NTRK3_ENST00000357724.2_Silent_p.L209L|NTRK3_ENST00000394480.2_Silent_p.L209L|NTRK3_ENST00000557856.1_Silent_p.L209L|NTRK3_ENST00000558676.1_Silent_p.L209L|NTRK3_ENST00000540489.2_Silent_p.L209L|NTRK3_ENST00000542733.2_Silent_p.L111L|NTRK3_ENST00000317501.3_Silent_p.L209L|NTRK3_ENST00000355254.2_Silent_p.L209L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	209	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L209L(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCTCAGGAAGGTCTGGGA	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.L209L			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T627C	15						.						97.0	59.0	72.0					15																	88679836		2201	4299	6500	86480840	SO:0001819	synonymous_variant	4916	exon7			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.627T>C	15.37:g.88679836A>G		Somatic		Capture	Illumina HiSeq	Phase_I	86480840	NM_001007156	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
NTRK3	4916	broad.mit.edu	37	15	88680797	88680797	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:88680797C>T	ENST00000360948.2	-	6	626				NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000540489.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000317501.3_Intron|NTRK3_ENST00000355254.2_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACTGCCTGTCGGCAAAGAGA	0.587			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											.			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	3	Unknown(3)	large_intestine(3)	.	15						.						46.0	41.0	43.0					15																	88680797		2201	4299	6500	86481801	SO:0001627	intron_variant	4916	.			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.465-5G>A	15.37:g.88680797C>T		Somatic		Capture	Illumina HiSeq	Phase_I	86481801	.	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Intron	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
MRPL46	26589	broad.mit.edu	37	15	89008964	89008964	+	Missense_Mutation	SNP	C	C	T	rs199889183		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:89008964C>T	ENST00000312475.4	-	2	310	c.269G>A	c.(268-270)cGt>cAt	p.R90H	MRPS11_ENST00000325844.4_5'Flank|MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000353598.6_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	90						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)	p.R90H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATCCAGAGCACGAAGCTCGTG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		18411	0.001		0.0	False		,,,				2504	0.0				p.R90H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	15						.						104.0	106.0	106.0					15																	89008964		2201	4299	6500	86809968	SO:0001583	missense	26589	exon2			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.269G>A	15.37:g.89008964C>T	ENSP00000312311:p.Arg90His	Somatic		Capture	Illumina HiSeq	Phase_I	86809968	NM_022163	B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	CCDS10341.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.1	4.240117	0.79912	.	.	ENSG00000173867	ENST00000312475	T	0.47869	0.83	5.08	4.16	0.48862	.	0.051678	0.85682	D	0.000000	T	0.68668	0.3026	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.67103	0.949;0.938	T	0.73100	-0.4089	10	0.49607	T	0.09	.	12.9075	0.58160	0.0:0.9222:0.0:0.0778	.	5;90	Q8TER9;Q9H2W6	.;RM46_HUMAN	H	90	ENSP00000312311:R90H	ENSP00000312311:R90H	R	-	2	0	MRPL46	86809968	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	5.036000	0.64164	1.500000	0.48636	0.655000	0.94253	CGT		0.398	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163	
ACAN	176	broad.mit.edu	37	15	89400975	89400975	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:89400975C>A	ENST00000561243.1	+	11	5159	c.5159C>A	c.(5158-5160)tCt>tAt	p.S1720Y	ACAN_ENST00000439576.2_Missense_Mutation_p.S1720Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1720Y|ACAN_ENST00000352105.7_Missense_Mutation_p.S1720Y			P16112	PGCA_HUMAN	aggrecan	1754	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S1606Y(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCAAGCATCTGGGTCTCCT	0.527																																					p.S1720Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5159A	15						.						168.0	166.0	167.0					15																	89400975		1958	4146	6104	87201979	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5159C>A	15.37:g.89400975C>A	ENSP00000453342:p.Ser1720Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	87201979	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798821	0.70567	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13196	2.94;2.61	5.74	5.74	0.90152	.	0.000000	0.31922	N	0.006850	T	0.43831	0.1265	M	0.82823	2.61	0.32728	N	0.509397	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.56601	-0.7952	10	0.87932	D	0	-5.4085	18.4839	0.90821	0.0:1.0:0.0:0.0	.	1720;1720	E7ENV9;E7EX88	.;.	Y	1720;1720;1606	ENSP00000387356:S1720Y;ENSP00000341615:S1720Y	ENSP00000268134:S1606Y	S	+	2	0	ACAN	87201979	0.998000	0.40836	0.996000	0.52242	0.931000	0.56810	5.220000	0.65267	2.710000	0.92621	0.655000	0.94253	TCT		0.527	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
MFGE8	4240	broad.mit.edu	37	15	89449889	89449889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:89449889C>T	ENST00000566497.1	-	4	569	c.508G>A	c.(508-510)Gat>Aat	p.D170N	MFGE8_ENST00000268150.8_Missense_Mutation_p.D170N|MFGE8_ENST00000539437.1_Missense_Mutation_p.D162N|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Missense_Mutation_p.D126N|MFGE8_ENST00000268151.7_Missense_Mutation_p.D170N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	170	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.D170N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGATGAAATCGAATTCGTGT	0.512																																					p.D170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	15						.						101.0	94.0	96.0					15																	89449889		2200	4299	6499	87250893	SO:0001583	missense	4240	exon4			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.508G>A	15.37:g.89449889C>T	ENSP00000456281:p.Asp170Asn	Somatic		Capture	Illumina HiSeq	Phase_I	87250893	NM_005928	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	2.711	-0.268683	0.05716	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	5.01	-3.97	0.04094	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.938968	0.09064	N	0.853821	D	0.89880	0.6843	N	0.04043	-0.29	0.09310	N	0.999994	B;P;P;B;P;P	0.47545	0.171;0.897;0.694;0.081;0.493;0.694	B;B;B;B;B;B	0.39771	0.032;0.243;0.309;0.019;0.206;0.309	D	0.85871	0.1416	10	0.17369	T	0.5	-9.2265	9.5469	0.39286	0.0:0.3956:0.1722:0.4321	.	162;126;126;162;170;170	B3KTQ2;F5GZN3;B4E396;F5H7N9;Q08431-3;Q08431	.;.;.;.;.;MFGM_HUMAN	N	170;170;162;126	ENSP00000268150:D170N;ENSP00000268151:D170N;ENSP00000442386:D162N;ENSP00000444332:D126N	ENSP00000268150:D170N	D	-	1	0	MFGE8	87250893	0.034000	0.19679	0.632000	0.29296	0.000000	0.00434	0.029000	0.13666	-0.443000	0.07180	-1.267000	0.01435	GAT		0.512	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928	
POLG	5428	broad.mit.edu	37	15	89860052	89860052	+	Missense_Mutation	SNP	G	G	A	rs199751339		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:89860052G>A	ENST00000268124.5	-	23	3983	c.3650C>T	c.(3649-3651)gCg>gTg	p.A1217V	FANCI_ENST00000310775.7_3'UTR|FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.A1217V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1217					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.A1217V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AATATCCAGCGCTTCACCTGA	0.468								DNA polymerases (catalytic subunits)																													p.A1217V	Colon(73;648 1203 11348 18386 27782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3650T	15						.						96.0	89.0	91.0					15																	89860052		2200	4299	6499	87661056	SO:0001583	missense	5428	exon23			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3650C>T	15.37:g.89860052G>A	ENSP00000268124:p.Ala1217Val	Somatic		Capture	Illumina HiSeq	Phase_I	87661056	NM_001126131	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549606	0.96501	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96802	-4.13;-4.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98030	1.0376	10	0.72032	D	0.01	-22.1562	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1217	P54098	DPOG1_HUMAN	V	1217	ENSP00000268124:A1217V;ENSP00000399851:A1217V	ENSP00000268124:A1217V	A	-	2	0	POLG	87661056	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCG		0.468	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
TICRR	90381	broad.mit.edu	37	15	90119350	90119350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90119350C>T	ENST00000268138.7	+	1	638	c.533C>T	c.(532-534)gCc>gTc	p.A178V	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.A178V			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	178					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A178V(1)									GAGGCCCAGGCCCAGCGCCTG	0.652																																					p.A178V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C533T	15						.						20.0	24.0	22.0					15																	90119350		2007	4157	6164	87920354	SO:0001583	missense	90381	exon1			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.533C>T	15.37:g.90119350C>T	ENSP00000268138:p.Ala178Val	Somatic		Capture	Illumina HiSeq	Phase_I	87920354	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015745	0.35606	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.21	3.3	0.37823	.	0.626869	0.13844	N	0.358813	T	0.09247	0.0228	L	0.51422	1.61	0.09310	N	1	B	0.23937	0.094	B	0.23275	0.045	T	0.21484	-1.0244	10	0.72032	D	0.01	-3.9202	7.562	0.27857	0.0:0.7992:0.0:0.2007	.	178	Q7Z2Z1	TICRR_HUMAN	V	178	ENSP00000268138:A178V	ENSP00000268138:A178V	A	+	2	0	C15orf42	87920354	0.000000	0.05858	0.561000	0.28357	0.743000	0.42351	-0.060000	0.11712	0.973000	0.38340	0.467000	0.42956	GCC		0.652	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
TICRR	90381	broad.mit.edu	37	15	90162963	90162963	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90162963G>A	ENST00000268138.7	+	18	3149	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	TICRR_ENST00000560985.1_Missense_Mutation_p.R1014Q|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1015					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1015Q(1)									CGAAGTCCTCGAATCAAGCAG	0.433																																					p.R1015Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3044A	15						.						138.0	131.0	133.0					15																	90162963		1925	4140	6065	87963967	SO:0001583	missense	90381	exon18			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3044G>A	15.37:g.90162963G>A	ENSP00000268138:p.Arg1015Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87963967	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	34	5.371476	0.95923	.	.	ENSG00000140534	ENST00000268138	T	0.24538	1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51631	-0.8681	10	0.56958	D	0.05	-11.8653	19.1612	0.93533	0.0:0.0:1.0:0.0	.	1015	Q7Z2Z1	TICRR_HUMAN	Q	1015	ENSP00000268138:R1015Q	ENSP00000268138:R1015Q	R	+	2	0	C15orf42	87963967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.748000	0.94277	0.655000	0.94253	CGA		0.433	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
TICRR	90381	broad.mit.edu	37	15	90167367	90167367	+	Missense_Mutation	SNP	C	C	T	rs140978691	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90167367C>T	ENST00000268138.7	+	20	3931	c.3826C>T	c.(3826-3828)Cgg>Tgg	p.R1276W	TICRR_ENST00000560985.1_Missense_Mutation_p.R1275W|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1276	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1276W(1)									CAGAGCTGCTCGGGCAGAGGA	0.517																																					p.R1276W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3826T	15						.	C	TRP/ARG	0,4400		0,0,2200	76.0	81.0	79.0		3826	1.6	0.0	15	dbSNP_134	79	3,8595	3.0+/-9.4	0,3,4296	no	missense	C15orf42	NM_152259.3	101	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	benign	1276/1911	90167367	3,12995	2200	4299	6499	87968371	SO:0001583	missense	90381	exon20			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3826C>T	15.37:g.90167367C>T	ENSP00000268138:p.Arg1276Trp	Somatic		Capture	Illumina HiSeq	Phase_I	87968371	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443894	0.25987	0.0	3.49E-4	ENSG00000140534	ENST00000268138	T	0.08634	3.07	4.65	1.63	0.23807	.	1.084350	0.07176	N	0.853180	T	0.04770	0.0129	N	0.03608	-0.345	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.43829	-0.9367	10	0.62326	D	0.03	0.35	9.9699	0.41747	0.0:0.647:0.2796:0.0733	.	1276	Q7Z2Z1	TICRR_HUMAN	W	1276	ENSP00000268138:R1276W	ENSP00000268138:R1276W	R	+	1	2	C15orf42	87968371	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.335000	0.19806	0.110000	0.17919	-1.114000	0.02060	CGG		0.517	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
ANPEP	290	broad.mit.edu	37	15	90335485	90335485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90335485C>T	ENST00000300060.6	-	18	2747	c.2434G>A	c.(2434-2436)Gcc>Acc	p.A812T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	812	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.A812T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TGCTCCCAGGCGAAGTCCCAC	0.617																																					p.A812T	NSCLC(30;827 977 2459 19669 26125)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2434A	15						.						135.0	132.0	133.0					15																	90335485		2200	4299	6499	88136489	SO:0001583	missense	290	exon18			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2434G>A	15.37:g.90335485C>T	ENSP00000300060:p.Ala812Thr	Somatic		Capture	Illumina HiSeq	Phase_I	88136489	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699419	0.88830	.	.	ENSG00000166825	ENST00000300060	T	0.05382	3.45	5.46	5.46	0.80206	.	0.110120	0.64402	D	0.000009	T	0.24314	0.0589	M	0.76838	2.35	0.47659	D	0.999489	D	0.67145	0.996	D	0.62955	0.909	T	0.00240	-1.1887	10	0.48119	T	0.1	.	16.7949	0.85599	0.0:1.0:0.0:0.0	.	812	P15144	AMPN_HUMAN	T	812	ENSP00000300060:A812T	ENSP00000300060:A812T	A	-	1	0	ANPEP	88136489	1.000000	0.71417	0.946000	0.38457	0.775000	0.43874	2.117000	0.41939	2.575000	0.86900	0.561000	0.74099	GCC		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
ARPIN	348110	broad.mit.edu	37	15	90451591	90451591	+	Silent	SNP	G	G	A	rs373322927		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90451591G>A	ENST00000357484.5	-	3	342	c.222C>T	c.(220-222)ttC>ttT	p.F74F	C15orf38_ENST00000460685.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Silent_p.F74F	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		74					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)		p.F74F(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCTTGGCGTCGAATTTACGGC	0.582																																					p.F74F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	15						.	G	,	1,4197		0,1,2098	115.0	122.0	120.0		222,222	-5.1	0.6	15		120	1,8425		0,1,4212	no	coding-synonymous,coding-synonymous	C15orf38,C15orf38-AP3S2	NM_001199058.1,NM_182616.2	,	0,2,6310	AA,AG,GG		0.0119,0.0238,0.0158	,	74/395,74/227	90451591	2,12622	2099	4213	6312	88252595	SO:0001819	synonymous_variant	10239	exon3																														ENST00000357484.5:c.222C>T	15.37:g.90451591G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88252595	NM_182616	E2QRD5	Silent	SNP	ENST00000357484.5	37	CCDS42080.1																																																																																				0.582	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1		
ZNF710	374655	broad.mit.edu	37	15	90610410	90610410	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90610410T>C	ENST00000268154.4	+	2	292	c.41T>C	c.(40-42)gTg>gCg	p.V14A		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V14A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACGGACGCCGTGGTGGTGCTG	0.602																																					p.V14A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T41C	15						.						53.0	37.0	42.0					15																	90610410		2200	4298	6498	88411414	SO:0001583	missense	374655	exon2			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.41T>C	15.37:g.90610410T>C	ENSP00000268154:p.Val14Ala	Somatic		Capture	Illumina HiSeq	Phase_I	88411414	NM_198526	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817684	0.50633	.	.	ENSG00000140548	ENST00000268154	T	0.19105	2.17	5.81	4.7	0.59300	.	0.000000	0.35096	N	0.003453	T	0.15132	0.0365	L	0.32530	0.975	0.47905	D	0.999541	B	0.32781	0.384	B	0.26517	0.07	T	0.04495	-1.0947	10	0.87932	D	0	-35.9672	10.2801	0.43534	0.0:0.0774:0.0:0.9226	.	14	Q8N1W2	ZN710_HUMAN	A	14	ENSP00000268154:V14A	ENSP00000268154:V14A	V	+	2	0	ZNF710	88411414	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.963000	0.63694	2.217000	0.71921	0.533000	0.62120	GTG		0.602	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526	
IQGAP1	8826	broad.mit.edu	37	15	90996086	90996086	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90996086C>T	ENST00000268182.5	+	12	1366	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	414					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.P414P(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGATGAATCCCGAAGCCCAGC	0.498																																					p.P414P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1242T	15						.						97.0	95.0	95.0					15																	90996086		2198	4298	6496	88797090	SO:0001819	synonymous_variant	8826	exon12			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1242C>T	15.37:g.90996086C>T		Somatic		Capture	Illumina HiSeq	Phase_I	88797090	NM_003870	A7MBM3	Silent	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																				0.498	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQGAP1	8826	broad.mit.edu	37	15	90999372	90999372	+	Intron	SNP	C	C	A	rs370850854		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:90999372C>A	ENST00000268182.5	+	15	1736				IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTTCTGTCTCTTTATATTTA	0.353																																					.												.	.	0			.	15						.						34.0	37.0	36.0					15																	90999372		2198	4298	6496	88800376	SO:0001627	intron_variant	8826	.			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1613-12C>A	15.37:g.90999372C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88800376	.	A7MBM3	Intron	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																				0.353	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
BLM	641	broad.mit.edu	37	15	91306252	91306252	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:91306252C>A	ENST00000355112.3	+	8	2057	c.1939C>A	c.(1939-1941)Ctt>Att	p.L647I	BLM_ENST00000560509.1_Missense_Mutation_p.L647I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	647					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.L647I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTTCCAAAGTCTTAGTTTTCC	0.333			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.L647I		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1939A	15						.						69.0	73.0	71.0					15																	91306252		2198	4298	6496	89107256	SO:0001583	missense	641	exon8	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1939C>A	15.37:g.91306252C>A	ENSP00000347232:p.Leu647Ile	Somatic		Capture	Illumina HiSeq	Phase_I	89107256	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559042	0.45590	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.76839	-1.05	5.45	3.41	0.39046	.	0.275243	0.36665	N	0.002473	T	0.66025	0.2748	L	0.41236	1.265	0.26149	N	0.980178	B;B;B	0.31100	0.308;0.167;0.162	B;B;B	0.34590	0.186;0.07;0.122	T	0.59080	-0.7521	10	0.49607	T	0.09	-2.3617	3.6194	0.08090	0.1761:0.5644:0.17:0.0895	.	647;272;647	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	I	647;300	ENSP00000347232:L647I	ENSP00000347232:L647I	L	+	1	0	BLM	89107256	0.934000	0.31675	0.962000	0.40283	0.943000	0.58893	2.015000	0.40961	1.252000	0.44001	0.591000	0.81541	CTT		0.333	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
ST8SIA2	8128	broad.mit.edu	37	15	92977586	92977586	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:92977586A>G	ENST00000268164.3	+	3	508	c.271A>G	c.(271-273)Acg>Gcg	p.T91A	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.T70A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	91					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.T91A(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ACATAACCAGACGCTCTCTCT	0.458																																					p.T91A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A271G	15						.						151.0	119.0	130.0					15																	92977586		2198	4298	6496	90778590	SO:0001583	missense	8128	exon3			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.271A>G	15.37:g.92977586A>G	ENSP00000268164:p.Thr91Ala	Somatic		Capture	Illumina HiSeq	Phase_I	90778590	NM_006011	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055342	0.55325	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.19669	2.13;2.44	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.55990	1.75	0.58432	D	0.999999	B;D	0.56968	0.148;0.978	B;P	0.48815	0.089;0.591	T	0.02144	-1.1206	10	0.48119	T	0.1	-0.184	15.888	0.79269	1.0:0.0:0.0:0.0	.	70;91	C6G488;Q92186	.;SIA8B_HUMAN	A	91;70	ENSP00000268164:T91A;ENSP00000437382:T70A	ENSP00000268164:T91A	T	+	1	0	ST8SIA2	90778590	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.504000	0.73704	2.147000	0.66899	0.533000	0.62120	ACG		0.458	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
C15orf32	145858	broad.mit.edu	37	15	93015742	93015742	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:93015742C>A	ENST00000333334.2	+	1	859	c.364C>A	c.(364-366)Ctt>Att	p.L122I	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.L122I	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	122								p.L122I(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTTCAACCATCTTGTCATAAG	0.498																																					p.L122I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364A	15						.						60.0	66.0	64.0					15																	93015742		2197	4298	6495	90816746	SO:0001583	missense	145858	exon1				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.364C>A	15.37:g.93015742C>A	ENSP00000330267:p.Leu122Ile	Somatic		Capture	Illumina HiSeq	Phase_I	90816746	NM_153040	C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	C	7.654	0.683525	0.14907	.	.	ENSG00000183643	ENST00000333334	T	0.55930	0.49	2.42	0.444	0.16592	.	.	.	.	.	T	0.31702	0.0805	N	0.14661	0.345	0.09310	N	1	P	0.46064	0.872	B	0.38655	0.278	T	0.15321	-1.0441	9	0.87932	D	0	.	8.4207	0.32698	0.0:0.4384:0.5616:0.0	.	122	Q32M92	CO032_HUMAN	I	122	ENSP00000330267:L122I	ENSP00000330267:L122I	L	+	1	0	C15orf32	90816746	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-1.213000	0.02991	0.117000	0.18138	-0.165000	0.13383	CTT		0.498	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040	
CHD2	1106	broad.mit.edu	37	15	93536102	93536102	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:93536102G>T	ENST00000394196.4	+	28	4537	c.3469G>T	c.(3469-3471)Gca>Tca	p.A1157S	CHD2_ENST00000557381.1_Missense_Mutation_p.A1157S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1157					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.A1157S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAGTGCATAGCACGTGATGC	0.507																																					p.A1157S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3469T	15						.						93.0	81.0	85.0					15																	93536102		2197	4298	6495	91337106	SO:0001583	missense	1106	exon28			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3469G>T	15.37:g.93536102G>T	ENSP00000377747:p.Ala1157Ser	Somatic		Capture	Illumina HiSeq	Phase_I	91337106	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983625	0.93044	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.80994	-1.44;-1.44	6.16	5.25	0.73442	.	0.000000	0.33938	U	0.004416	D	0.90331	0.6975	M	0.85462	2.755	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.75020	0.985;0.969	D	0.91878	0.5513	10	0.72032	D	0.01	-19.0483	15.6785	0.77349	0.0653:0.0:0.9347:0.0	.	1157;1157	O14647;O14647-2	CHD2_HUMAN;.	S	1157	ENSP00000377747:A1157S;ENSP00000451366:A1157S	ENSP00000377747:A1157S	A	+	1	0	CHD2	91337106	1.000000	0.71417	0.973000	0.42090	0.961000	0.63080	9.338000	0.96553	1.621000	0.50320	0.650000	0.86243	GCA		0.507	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
FAM169B	283777	broad.mit.edu	37	15	98982944	98982944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:98982944C>A	ENST00000558256.1	-	7	744	c.495G>T	c.(493-495)aaG>aaT	p.K165N	FAM169B_ENST00000332908.4_Missense_Mutation_p.K165N	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	165								p.K165N(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CTGGATCATCCTTTGTGTCTT	0.542																																					p.K165N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G495T	15						.						98.0	96.0	96.0					15																	98982944		2011	4167	6178	96800467	SO:0001583	missense	283777	exon7				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.495G>T	15.37:g.98982944C>A	ENSP00000453554:p.Lys165Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96800467	NM_182562	B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513980	0.27123	.	.	ENSG00000185087	ENST00000332908	T	0.52295	0.67	5.01	3.05	0.35203	.	0.687257	0.12296	N	0.481617	T	0.31638	0.0803	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.22034	-1.0228	10	0.25751	T	0.34	2.8027	8.2195	0.31532	0.1788:0.6487:0.1725:0.0	.	165	Q8N8A8	F169B_HUMAN	N	165	ENSP00000332615:K165N	ENSP00000332615:K165N	K	-	3	2	FAM169B	96800467	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.604000	0.24164	0.471000	0.27319	-0.188000	0.12872	AAG		0.542	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	
IGF1R	3480	broad.mit.edu	37	15	99459895	99459895	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:99459895G>A	ENST00000268035.6	+	10	2607				IGF1R_ENST00000558762.1_Intron	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTTCTTTTCCGAGAAGACAAA	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						49.0	53.0	52.0					15																	99459895		2197	4297	6494	97277418	SO:0001627	intron_variant	3480	.			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1997-6G>A	15.37:g.99459895G>A		Somatic		Capture	Illumina HiSeq	Phase_I	97277418	.	B1B5Y2|Q14CV2|Q9UCC0	Intron	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.458	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
PGPEP1L	145814	broad.mit.edu	37	15	99514385	99514385	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:99514385C>T	ENST00000378919.6	-	3	229	c.24G>A	c.(22-24)gaG>gaA	p.E8E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_5'UTR	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	8							cysteine-type peptidase activity (GO:0008234)	p.E8E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GCTTGGAGAGCTCCTGAGGAA	0.607																																					p.E8E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G24A	15						.						29.0	28.0	28.0					15																	99514385		1878	4102	5980	97331908	SO:0001819	synonymous_variant	145814	exon3				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.24G>A	15.37:g.99514385C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97331908	NM_001102612	H0YF86	Silent	SNP	ENST00000378919.6	37	CCDS53977.1																																																																																				0.607	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2	
SYNM	23336	broad.mit.edu	37	15	99671359	99671359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:99671359G>T	ENST00000560674.1	+	4	2405	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	SYNM_ENST00000336292.6_Nonsense_Mutation_p.E931*|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Nonsense_Mutation_p.E931*|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	932	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E931*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AATACCCCACGAATTCCACAC	0.547																																					p.T931T	Pancreas(125;1071 1762 21750 40003 40381)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2793T	15						.						22.0	23.0	23.0					15																	99671359		1881	4104	5985	97488882	SO:0001587	stop_gained	23336	exon4			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1936G>T	15.37:g.99671359G>T	ENSP00000453040:p.Glu646*	Somatic		Capture	Illumina HiSeq	Phase_I	97488882	NM_015286	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	41	8.777843	0.98950	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.76	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9081	0.79447	0.0:0.1354:0.8646:0.0	.	.	.	.	X	931	.	ENSP00000330469:E931X	E	+	1	0	SYNM	97488882	0.984000	0.35163	0.009000	0.14445	0.703000	0.40648	3.474000	0.53129	1.402000	0.46780	0.655000	0.94253	GAA		0.547	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
LYSMD4	145748	broad.mit.edu	37	15	100271585	100271585	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:100271585C>A	ENST00000409796.1	-	2	345				LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000344791.2_Missense_Mutation_p.Q79H|LYSMD4_ENST00000332728.4_Intron|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4							integral component of membrane (GO:0016021)		p.Q79H(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GAATTAAATTCTGCCTGGTAT	0.373																																					p.Q79H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	15						.						127.0	140.0	136.0					15																	100271585		2203	4300	6503	98089108	SO:0001627	intron_variant	145748	exon4			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.282+337G>T	15.37:g.100271585C>A		Somatic		Capture	Illumina HiSeq	Phase_I	98089108	NM_152449	A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37		.	.	.	.	.	.	.	.	.	.	C	7.871	0.728203	0.15507	.	.	ENSG00000183060	ENST00000344791;ENST00000450512	T	0.24151	1.87	4.81	2.21	0.28008	.	0.350718	0.29624	N	0.011624	T	0.22551	0.0544	N	0.08118	0	0.18873	N	0.999985	D	0.64830	0.994	P	0.61477	0.889	T	0.03761	-1.1006	10	0.51188	T	0.08	.	7.8281	0.29326	0.0:0.7515:0.0:0.2485	.	79	Q5XG99-2	.	H	79;74	ENSP00000342840:Q79H	ENSP00000342840:Q79H	Q	-	3	2	LYSMD4	98089108	0.003000	0.15002	0.361000	0.25849	0.280000	0.26924	0.313000	0.19415	0.850000	0.35239	0.655000	0.94253	CAG		0.373	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449	
DNM1P46	196968	broad.mit.edu	37	15	100341262	100341262	+	RNA	SNP	G	G	T	rs373850612		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:100341262G>T	ENST00000341853.1	-	0	384					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGTCCCACACGGTCTTGTTGA	0.572																																					.												.	.	0			.	15						.						61.0	57.0	58.0					15																	100341262		1554	3573	5127	98158785			196968	.			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341262G>T		Somatic		Capture	Illumina HiSeq	Phase_I	98158785	.	Q3ZCN3	Silent	SNP	ENST00000341853.1	37																																																																																					0.572	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260	
ADAMTS17	170691	broad.mit.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592																																					p.R1089C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3265T	15						.						63.0	60.0	61.0					15																	100514630		2203	4300	6503	98332153	SO:0001583	missense	170691	exon22			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	15.37:g.100514630G>A	ENSP00000268070:p.Arg1089Cys	Somatic		Capture	Illumina HiSeq	Phase_I	98332153	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC		0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
CERS3	204219	broad.mit.edu	37	15	101013131	101013131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101013131C>T	ENST00000394113.1	-	11	1426	c.736G>A	c.(736-738)Gag>Aag	p.E246K	CERS3_ENST00000538112.2_Missense_Mutation_p.E246K|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.E246K			Q8IU89	CERS3_HUMAN	ceramide synthase 3	246	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E246K(1)									ACGTTTACCTCCAGCCAAATG	0.443																																					p.E246K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736A	15						.						101.0	91.0	94.0					15																	101013131		2203	4300	6503	98830654	SO:0001583	missense	204219	exon10				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.736G>A	15.37:g.101013131C>T	ENSP00000377672:p.Glu246Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98830654	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343322	0.95783	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85411	-1.98;-1.98	5.92	5.92	0.95590	TRAM/LAG1/CLN8 homology domain (3);	0.095817	0.64402	D	0.000001	D	0.94922	0.8358	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95629	0.8688	10	0.87932	D	0	-22.3826	19.0795	0.93177	0.0:1.0:0.0:0.0	.	246	Q8IU89	CERS3_HUMAN	K	246;257;246	ENSP00000284382:E246K;ENSP00000437640:E246K	ENSP00000284382:E246K	E	-	1	0	CERS3	98830654	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	6.620000	0.74224	2.795000	0.96236	0.655000	0.94253	GAG		0.443	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
CERS3	204219	broad.mit.edu	37	15	101020246	101020246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101020246C>T	ENST00000394113.1	-	8	1103	c.413G>A	c.(412-414)aGa>aAa	p.R138K	CERS3_ENST00000538112.2_Missense_Mutation_p.R138K|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.R138K			Q8IU89	CERS3_HUMAN	ceramide synthase 3	138	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R138K(1)									AAATGCAAATCTCCAGCTGCC	0.318																																					p.R138K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	15						.						75.0	72.0	73.0					15																	101020246		2203	4300	6503	98837769	SO:0001583	missense	204219	exon7				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.413G>A	15.37:g.101020246C>T	ENSP00000377672:p.Arg138Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98837769	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445687	0.84101	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.84800	-1.9;-1.9	5.32	5.32	0.75619	TRAM/LAG1/CLN8 homology domain (3);	0.057270	0.64402	D	0.000003	D	0.89639	0.6773	L	0.45228	1.405	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	D	0.89602	0.3835	10	0.49607	T	0.09	-8.6334	17.7702	0.88489	0.0:1.0:0.0:0.0	.	138	Q8IU89	CERS3_HUMAN	K	138;149;138	ENSP00000284382:R138K;ENSP00000437640:R138K	ENSP00000284382:R138K	R	-	2	0	CERS3	98837769	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.739000	0.62080	2.486000	0.83907	0.460000	0.39030	AGA		0.318	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
LINS	55180	broad.mit.edu	37	15	101109661	101109661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101109661C>A	ENST00000314742.8	-	7	2278	c.2056G>T	c.(2056-2058)Gaa>Taa	p.E686*	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	686								p.E686*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTATCAAATTCTTTCAGAACC	0.428																																					p.E686X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2056T	15						.						86.0	90.0	89.0					15																	101109661		2203	4300	6503	98927184	SO:0001587	stop_gained	55180	exon7			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2056G>T	15.37:g.101109661C>A	ENSP00000318423:p.Glu686*	Somatic		Capture	Illumina HiSeq	Phase_I	98927184	NM_001040616	Q96FW2|Q9NVQ3	Nonsense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	37	6.362155	0.97507	.	.	ENSG00000140471	ENST00000314742	.	.	.	5.7	1.7	0.24286	.	0.601453	0.17063	N	0.188480	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.9458	6.1339	0.20221	0.0:0.5989:0.1297:0.2714	.	.	.	.	X	686	.	ENSP00000318423:E686X	E	-	1	0	LINS	98927184	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.300000	0.19156	0.344000	0.23847	0.591000	0.81541	GAA		0.428	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
LINS	55180	broad.mit.edu	37	15	101114445	101114445	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101114445T>G	ENST00000314742.8	-	5	855	c.633A>C	c.(631-633)gaA>gaC	p.E211D	LINS_ENST00000561308.1_Splice_Site_p.E211D|LINS_ENST00000560133.1_Splice_Site_p.E92D|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	211								p.E211D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GCTTTAGAATTTCTGCAATTA	0.279																																					p.E211D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A633C	15						.						24.0	25.0	25.0					15																	101114445		2099	4191	6290	98931968	SO:0001630	splice_region_variant	55180	exon5			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.632-1A>C	15.37:g.101114445T>G		Somatic		Capture	Illumina HiSeq	Phase_I	98931968	NM_001040616	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309569	0.60414	.	.	ENSG00000140471	ENST00000314742	T	0.19105	2.17	6.17	5.05	0.67936	.	0.183974	0.49916	D	0.000131	T	0.32912	0.0845	L	0.56769	1.78	0.27278	N	0.958184	D;D;P	0.69078	0.997;0.997;0.734	D;D;B	0.64042	0.921;0.921;0.301	T	0.17930	-1.0353	10	0.19590	T	0.45	.	6.4098	0.21684	0.2272:0.07:0.0:0.7028	.	92;211;211	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	D	211	ENSP00000318423:E211D	ENSP00000318423:E211D	E	-	3	2	LINS	98931968	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	1.052000	0.30429	1.160000	0.42584	0.533000	0.62120	GAA		0.279	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	Missense_Mutation
LINS	55180	broad.mit.edu	37	15	101115220	101115220	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101115220G>T	ENST00000314742.8	-	4	825	c.603C>A	c.(601-603)atC>atA	p.I201I	LINS_ENST00000561308.1_Silent_p.I201I|LINS_ENST00000560133.1_Silent_p.I82I|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	201								p.I201I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AATCTTTAAAGATTTCTTTTA	0.353																																					p.I201I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603A	15						.						80.0	77.0	78.0					15																	101115220		2203	4297	6500	98932743	SO:0001819	synonymous_variant	55180	exon4			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.603C>A	15.37:g.101115220G>T		Somatic		Capture	Illumina HiSeq	Phase_I	98932743	NM_001040616	Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																				0.353	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
LRRK1	79705	broad.mit.edu	37	15	101552302	101552302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101552302C>A	ENST00000388948.3	+	10	1730	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F454L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.F430L(1)|p.F457L(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGGATTTCTCAGAAAACG	0.413																																					p.F457L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1371A	15						.						121.0	120.0	120.0					15																	101552302		1822	4090	5912	99369825	SO:0001583	missense	79705	exon10			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1371C>A	15.37:g.101552302C>A	ENSP00000373600:p.Phe457Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99369825	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	9.179	1.022990	0.19433	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.25912	1.77;1.77	5.33	-0.121	0.13535	.	0.066163	0.64402	D	0.000011	T	0.03695	0.0105	N	0.00064	-2.315	0.42046	D	0.991094	B	0.24882	0.113	B	0.30316	0.114	T	0.43956	-0.9359	10	0.02654	T	1	.	8.3415	0.32247	0.0:0.3951:0.0:0.6049	.	457	Q38SD2	LRRK1_HUMAN	L	457;454	ENSP00000373600:F457L;ENSP00000284395:F454L	ENSP00000284395:F454L	F	+	3	2	LRRK1	99369825	1.000000	0.71417	0.992000	0.48379	0.906000	0.53458	0.885000	0.28227	-0.190000	0.10465	-0.300000	0.09419	TTC		0.413	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
LRRK1	79705	broad.mit.edu	37	15	101598295	101598295	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101598295C>T	ENST00000388948.3	+	29	4987	c.4628C>T	c.(4627-4629)tCc>tTc	p.S1543F	LRRK1_ENST00000284395.5_Missense_Mutation_p.S1540F|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.S1543F(1)|p.S1555F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCTTCTCATCCCAGGGCCAG	0.587																																					p.S1543F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4628T	15						.						74.0	74.0	74.0					15																	101598295		1971	4154	6125	99415818	SO:0001583	missense	79705	exon29			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4628C>T	15.37:g.101598295C>T	ENSP00000373600:p.Ser1543Phe	Somatic		Capture	Illumina HiSeq	Phase_I	99415818	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703505	0.48412	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.74315	-0.83;-0.83	4.57	3.58	0.41010	.	0.255195	0.34986	N	0.003535	T	0.78317	0.4264	L	0.32530	0.975	0.44890	D	0.997909	D	0.71674	0.998	D	0.69824	0.966	T	0.80248	-0.1461	10	0.56958	D	0.05	.	14.3257	0.66518	0.0:0.8509:0.1491:0.0	.	1543	Q38SD2	LRRK1_HUMAN	F	1543;1540;234;97	ENSP00000373600:S1543F;ENSP00000284395:S1540F	ENSP00000284395:S1540F	S	+	2	0	LRRK1	99415818	1.000000	0.71417	0.976000	0.42696	0.187000	0.23431	5.037000	0.64170	2.261000	0.74972	0.561000	0.74099	TCC		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
LRRK1	79705	broad.mit.edu	37	15	101605892	101605892	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101605892C>T	ENST00000388948.3	+	32	5609	c.5250C>T	c.(5248-5250)gtC>gtT	p.V1750V	LRRK1_ENST00000284395.5_Silent_p.V1747V|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.V1750V(1)|p.V1762V(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGAGGAGGTCGTCTGGTGCC	0.632																																					p.V1750V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5250T	15						.						73.0	87.0	82.0					15																	101605892		2152	4253	6405	99423415	SO:0001819	synonymous_variant	79705	exon32			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5250C>T	15.37:g.101605892C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99423415	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
CHSY1	22856	broad.mit.edu	37	15	101717850	101717850	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101717850G>A	ENST00000254190.3	-	3	2627	c.2152C>T	c.(2152-2154)Ctg>Ttg	p.L718L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	718					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L718L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACATCCTCCAGCCCCCAGCCT	0.498																																					p.L718L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2152T	15						.						101.0	102.0	102.0					15																	101717850		2203	4300	6503	99535373	SO:0001819	synonymous_variant	22856	exon3			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2152C>T	15.37:g.101717850G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99535373	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.498	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
CHSY1	22856	broad.mit.edu	37	15	101718447	101718447	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:101718447G>A	ENST00000254190.3	-	3	2030	c.1555C>T	c.(1555-1557)Ctc>Ttc	p.L519F	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	519					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L519F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACCCAGGGAGCTGAAAGGGG	0.458																																					p.L519F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1555T	15						.						94.0	100.0	98.0					15																	101718447		2203	4300	6503	99535970	SO:0001583	missense	22856	exon3			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1555C>T	15.37:g.101718447G>A	ENSP00000254190:p.Leu519Phe	Somatic		Capture	Illumina HiSeq	Phase_I	99535970	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503284	0.12822	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.35789	1.29	5.8	5.8	0.92144	.	0.071517	0.56097	D	0.000023	T	0.49898	0.1584	L	0.31420	0.93	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.34576	-0.9823	10	0.35671	T	0.21	-37.8354	20.063	0.97692	0.0:0.0:1.0:0.0	.	519	Q86X52	CHSS1_HUMAN	F	519;247	ENSP00000254190:L519F	ENSP00000254190:L519F	L	-	1	0	CHSY1	99535970	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.747000	0.85070	2.735000	0.93741	0.655000	0.94253	CTC		0.458	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
TARSL2	123283	broad.mit.edu	37	15	102197161	102197161	+	Nonsense_Mutation	SNP	G	G	A	rs373605221		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr15:102197161G>A	ENST00000335968.3	-	18	2440	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	742					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.R742*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGCATTTCGTATTTTCTTA	0.318																																					p.R742X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2224T	15						.	G	stop/ARG	0,4406		0,0,2203	98.0	90.0	93.0		2224	4.5	1.0	15		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TARSL2	NM_152334.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		742/803	102197161	1,13005	2203	4300	6503	100014684	SO:0001587	stop_gained	123283	exon18			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2224C>T	15.37:g.102197161G>A	ENSP00000338093:p.Arg742*	Somatic		Capture	Illumina HiSeq	Phase_I	100014684	NM_152334	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	39	7.315520	0.98207	0.0	1.16E-4	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.41	4.48	0.54585	.	0.132704	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0581	13.205	0.59790	0.0:0.0:0.8393:0.1607	.	.	.	.	X	742;647;742	.	ENSP00000329291:R647X	R	-	1	2	TARSL2	100014684	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.626000	0.24492	1.266000	0.44231	0.491000	0.48974	CGA		0.318	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
CLEC16A	23274	broad.mit.edu	37	16	11272259	11272259	+	Silent	SNP	G	G	T	rs61744091		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:11272259G>T	ENST00000409790.1	+	24	3104	c.2874G>T	c.(2872-2874)acG>acT	p.T958T	CLEC16A_ENST00000381822.2_Silent_p.T45T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.T958T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCAACGAAACGGAAGCAGACT	0.592																																					p.T958T												.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G2874T	16						.						108.0	124.0	118.0					16																	11272259		2163	4259	6422	11179760	SO:0001819	synonymous_variant	23274	exon23			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2874G>T	16.37:g.11272259G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11179760	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																				0.592	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
TNP2	7142	broad.mit.edu	37	16	11362859	11362859	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:11362859G>A	ENST00000312693.3	-	1	330	c.261C>T	c.(259-261)aaC>aaT	p.N87N	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	87					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N87N(1)|p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTGGTGGGAGTTCATAGTCT	0.557																																					p.N87N												.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C261T	16						.						122.0	129.0	127.0					16																	11362859		2071	4208	6279	11270360	SO:0001819	synonymous_variant	7142	exon1				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.261C>T	16.37:g.11362859G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11270360	NM_005425	Q9NZB0	Silent	SNP	ENST00000312693.3	37	CCDS45410.1																																																																																				0.557	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425	
PRM1	5619	broad.mit.edu	37	16	11375047	11375047	+	Missense_Mutation	SNP	G	G	A	rs140477029	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:11375047G>A	ENST00000312511.3	-	1	160	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	17					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.R17C(1)|p.0?(1)		large_intestine(2)|skin(2)	4						TGTCTCTGGCGGTAATATCTG	0.622													G|||	11	0.00219649	0.0083	0.0	5008	,	,		19548	0.0		0.0	False		,,,				2504	0.0				p.R17C												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C49T	16						.	G	CYS/ARG	23,4371	29.9+/-59.1	0,23,2174	109.0	100.0	103.0		49	1.3	0.4	16	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRM1	NM_002761.2	180	0,24,6473	AA,AG,GG		0.0116,0.5234,0.1847	benign	17/52	11375047	24,12970	2197	4300	6497	11282548	SO:0001583	missense	5619	exon1				CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 1"""	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.49C>T	16.37:g.11375047G>A	ENSP00000310515:p.Arg17Cys	Somatic		Capture	Illumina HiSeq	Phase_I	11282548	NM_002761		Missense_Mutation	SNP	ENST00000312511.3	37	CCDS10547.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.821	-0.244712	0.05906	0.005234	1.16E-4	ENSG00000175646	ENST00000312511	.	.	.	4.36	1.28	0.21552	.	0.178051	0.27577	N	0.018744	T	0.19967	0.0480	.	.	.	0.29363	N	0.864501	B	0.26635	0.155	B	0.23852	0.049	T	0.15178	-1.0446	8	0.87932	D	0	-9.748	3.6342	0.08143	0.2108:0.0:0.5944:0.1949	.	17	P04553	HSP1_HUMAN	C	17	.	ENSP00000310515:R17C	R	-	1	0	PRM1	11282548	0.925000	0.31364	0.364000	0.25888	0.048000	0.14542	0.635000	0.24629	0.126000	0.18424	0.484000	0.47621	CGC		0.622	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1		
TXNDC11	51061	broad.mit.edu	37	16	11773066	11773066	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:11773066C>A	ENST00000356957.3	-	13	3050	c.2943G>T	c.(2941-2943)gaG>gaT	p.E981D	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E954D|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	981					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.E954D(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGTCCTGTTCTCCTTATTCC	0.438																																					p.E954D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2862T	16						.						35.0	39.0	37.0					16																	11773066		2197	4300	6497	11680567	SO:0001583	missense	51061	exon12			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2943G>T	16.37:g.11773066C>A	ENSP00000349439:p.Glu981Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11680567	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	C	15.52	2.858960	0.51376	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.19806	2.35;2.12	5.54	4.5	0.54988	.	0.179619	0.47852	N	0.000206	T	0.21103	0.0508	L	0.32530	0.975	0.43740	D	0.996236	D;D	0.59767	0.976;0.986	P;P	0.53102	0.527;0.718	T	0.01432	-1.1356	10	0.56958	D	0.05	-16.8531	4.0407	0.09750	0.0:0.701:0.0:0.299	.	981;954	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	D	981;954	ENSP00000349439:E981D;ENSP00000283033:E954D	ENSP00000283033:E954D	E	-	3	2	TXNDC11	11680567	0.998000	0.40836	1.000000	0.80357	0.217000	0.24651	0.285000	0.18883	2.605000	0.88082	0.591000	0.81541	GAG		0.438	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914	
PARN	5073	broad.mit.edu	37	16	14576652	14576652	+	Missense_Mutation	SNP	G	G	A	rs375185166		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:14576652G>A	ENST00000437198.2	-	22	1654	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	PARN_ENST00000420015.2_Missense_Mutation_p.R459W|PARN_ENST00000539279.1_Missense_Mutation_p.R330W|PARN_ENST00000341484.7_Missense_Mutation_p.R444W	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	505					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.R505W(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTTTGGATCCGATAGCTTTCT	0.403																																					p.R505W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1513T	16						.	G	TRP/ARG,TRP/ARG	0,3686		0,0,1843	148.0	128.0	134.0		1330,1513	5.3	1.0	16		134	1,8193		0,1,4096	no	missense,missense	PARN	NM_001134477.2,NM_002582.3	101,101	0,1,5939	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	444/579,505/640	14576652	1,11879	1843	4097	5940	14484153	SO:0001583	missense	5073	exon22			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1513C>T	16.37:g.14576652G>A	ENSP00000387911:p.Arg505Trp	Somatic		Capture	Illumina HiSeq	Phase_I	14484153	NM_002582	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951386	0.73787	0.0	1.22E-4	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.35	5.35	0.76521	Poly(A)-specific ribonuclease, RNA-binding (1);Nucleotide-binding, alpha-beta plait (1);	0.062556	0.64402	D	0.000020	T	0.57710	0.2072	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72982	0.979;0.957;0.956	T	0.59695	-0.7406	10	0.87932	D	0	-12.9019	13.6491	0.62299	0.0:0.0:0.8353:0.1647	.	330;459;505	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	W	505;444;459;330	ENSP00000387911:R505W;ENSP00000345456:R444W;ENSP00000410525:R459W;ENSP00000444381:R330W	ENSP00000345456:R444W	R	-	1	2	PARN	14484153	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.129000	0.50500	2.510000	0.84645	0.467000	0.42956	CGG		0.403	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
RRN3	54700	broad.mit.edu	37	16	15180248	15180248	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:15180248A>C	ENST00000198767.6	-	4	399	c.316T>G	c.(316-318)Ttt>Gtt	p.F106V	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.F73V|RRN3_ENST00000564131.1_Missense_Mutation_p.F106V|RRN3_ENST00000563559.1_Missense_Mutation_p.F106V|RRN3_ENST00000540462.1_5'UTR|RRN3_ENST00000429751.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	106					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F106V(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						AGTTGCTCAAAGTCTTTTGTC	0.289																																					p.F106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T316G	16						.						52.0	58.0	56.0					16																	15180248		2195	4284	6479	15087749	SO:0001583	missense	54700	exon4			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.316T>G	16.37:g.15180248A>C	ENSP00000198767:p.Phe106Val	Somatic		Capture	Illumina HiSeq	Phase_I	15087749	NM_018427	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.720007	0.30503	.	.	ENSG00000085721	ENST00000198767;ENST00000327307	T;T	0.41400	1.0;1.0	4.46	4.46	0.54185	.	0.155196	0.44902	U	0.000419	T	0.40743	0.1129	M	0.61703	1.905	0.80722	D	1	P;P;P	0.46578	0.849;0.8;0.88	B;P;B	0.45232	0.438;0.474;0.248	T	0.21999	-1.0229	10	0.17369	T	0.5	.	9.5126	0.39087	0.9119:0.0:0.0881:0.0	.	7;106;106	B4DZL9;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	V	106;73	ENSP00000198767:F106V;ENSP00000318484:F73V	ENSP00000198767:F106V	F	-	1	0	RRN3	15087749	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.539000	0.60657	1.779000	0.52309	0.379000	0.24179	TTT		0.289	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
MYH11	4629	broad.mit.edu	37	16	15813511	15813511	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:15813511G>T	ENST00000300036.5	-	35	5122	c.5013C>A	c.(5011-5013)atC>atA	p.I1671I	MYH11_ENST00000452625.2_Silent_p.I1678I|MYH11_ENST00000396324.3_Silent_p.I1678I|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Silent_p.I1671I|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1671					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I1671I(1)|p.I1678I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGTGGCAAAGATCTCATCTC	0.512			T	CBFB	AML																																p.I1678I			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5034A	16						.						167.0	147.0	154.0					16																	15813511		2197	4300	6497	15721012	SO:0001819	synonymous_variant	4629	exon36			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5013C>A	16.37:g.15813511G>T		Somatic		Capture	Illumina HiSeq	Phase_I	15721012	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.512	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15850312	15850312	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:15850312C>T	ENST00000300036.5	-	14	1744	c.1635G>A	c.(1633-1635)acG>acA	p.T545T	MYH11_ENST00000452625.2_Silent_p.T552T|MYH11_ENST00000396324.3_Silent_p.T552T|MYH11_ENST00000576790.2_Silent_p.T545T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	545	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T545T(1)|p.T552T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGACTTGTCCGTGGCTTTGG	0.567			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T552T			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1656A	16						.						115.0	91.0	99.0					16																	15850312		2197	4300	6497	15757813	SO:0001819	synonymous_variant	4629	exon15			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1635G>A	16.37:g.15850312C>T		Somatic	705	Capture	Illumina HiSeq	Phase_I	15757813	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ABCC1	4363	broad.mit.edu	37	16	16149977	16149977	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:16149977G>A	ENST00000399410.3	+	12	1677	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	ABCC1_ENST00000351154.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.R501Q|ABCC1_ENST00000345148.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000349029.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000346370.5_Missense_Mutation_p.R501Q	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	501	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R501Q(2)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAAGACAATCGGATCAAGCTG	0.522																																					p.R501Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1502A	16						.						105.0	104.0	104.0					16																	16149977		2007	4182	6189	16057478	SO:0001583	missense	4363	exon12			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1502G>A	16.37:g.16149977G>A	ENSP00000382342:p.Arg501Gln	Somatic		Capture	Illumina HiSeq	Phase_I	16057478	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424589	0.96111	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	H	0.94582	3.555	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.996;1.0;0.999;0.996;0.999;0.999	D	0.97842	1.0269	10	0.87932	D	0	-30.289	18.0003	0.89196	0.0:0.0:1.0:0.0	.	501;501;501;501;501;501;501	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	Q	501;501;501;501;501;501;175	ENSP00000382342:R501Q;ENSP00000382340:R501Q;ENSP00000263019:R501Q;ENSP00000263017:R501Q;ENSP00000263014:R501Q;ENSP00000263016:R501Q	ENSP00000263014:R501Q	R	+	2	0	ABCC1	16057478	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.426000	0.97469	2.479000	0.83701	0.561000	0.74099	CGG		0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
ABCC1	4363	broad.mit.edu	37	16	16162052	16162052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:16162052G>A	ENST00000399410.3	+	13	1892	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	ABCC1_ENST00000351154.5_Missense_Mutation_p.E573K|ABCC1_ENST00000399408.2_Missense_Mutation_p.E573K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E573K|ABCC1_ENST00000349029.5_Missense_Mutation_p.E573K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E573K	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	573	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E573K(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GACCATTGACGAGAACAACAT	0.547																																					p.E573K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1717A	16						.						191.0	187.0	188.0					16																	16162052		2125	4238	6363	16069553	SO:0001583	missense	4363	exon13			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1717G>A	16.37:g.16162052G>A	ENSP00000382342:p.Glu573Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16069553	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	3.193	-0.165385	0.06461	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	4.46	-8.91	0.00778	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.699813	0.14910	N	0.291272	T	0.80243	0.4587	N	0.17474	0.49	0.23391	N	0.99777	B;B;B;B;B;B	0.16166	0.003;0.005;0.01;0.016;0.006;0.005	B;B;B;B;B;B	0.16722	0.001;0.008;0.01;0.003;0.016;0.016	T	0.52525	-0.8564	10	0.40728	T	0.16	-1.5166	16.9821	0.86331	0.6509:0.0:0.3491:0.0	.	573;573;573;573;573;573	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	K	573;573;573;573;573;573;247	ENSP00000382342:E573K;ENSP00000382340:E573K;ENSP00000263019:E573K;ENSP00000263017:E573K;ENSP00000263014:E573K;ENSP00000263016:E573K	ENSP00000263014:E573K	E	+	1	0	ABCC1	16069553	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.809000	0.04510	-2.893000	0.00314	-1.836000	0.00589	GAG		0.547	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
ABCC6	368	broad.mit.edu	37	16	16302676	16302676	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:16302676C>A	ENST00000205557.7	-	7	732	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	235					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D235Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GACCAGAGGTCTTTTGGTCTC	0.567																																					p.D235Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703T	16						.						28.0	28.0	28.0					16																	16302676		2195	4273	6468	16210177	SO:0001583	missense	368	exon7			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.703G>T	16.37:g.16302676C>A	ENSP00000205557:p.Asp235Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	16210177	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.803965	0.50315	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.97114	-4.25;-4.25	4.09	4.09	0.47781	.	0.000000	0.51477	U	0.000090	D	0.98785	0.9591	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.99429	1.0935	10	0.87932	D	0	.	13.3002	0.60321	0.0:1.0:0.0:0.0	.	247;235	F5GWQ0;O95255	.;MRP6_HUMAN	Y	235;235;247	ENSP00000205557:D235Y;ENSP00000405002:D235Y	ENSP00000205557:D235Y	D	-	1	0	ABCC6	16210177	1.000000	0.71417	0.928000	0.36995	0.543000	0.35085	4.699000	0.61796	1.857000	0.53885	0.479000	0.44913	GAC		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
SMG1	23049	broad.mit.edu	37	16	18841340	18841340	+	Missense_Mutation	SNP	C	C	T	rs368592756		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:18841340C>T	ENST00000446231.2	-	53	9453	c.9041G>A	c.(9040-9042)cGg>cAg	p.R3014Q	SMG1_ENST00000389467.3_Missense_Mutation_p.R3014Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3014					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R3010Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAGCACCTGCCGGTGATTATC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18637	0.0		0.0	False		,,,				2504	0.001				p.R3014Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9041A	16						.	C	GLN/ARG	0,3624		0,0,1812	32.0	29.0	30.0		9041	6.1	1.0	16		30	1,8143		0,1,4071	no	missense	SMG1	NM_015092.4	43	0,1,5883	TT,TC,CC		0.0123,0.0,0.0085	benign	3014/3662	18841340	1,11767	1812	4072	5884	18748841	SO:0001583	missense	23049	exon53			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9041G>A	16.37:g.18841340C>T	ENSP00000402515:p.Arg3014Gln	Somatic		Capture	Illumina HiSeq	Phase_I	18748841	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041385	0.75732	0.0	1.23E-4	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01133	5.29;5.29	6.06	6.06	0.98353	.	0.107331	0.42682	D	0.000678	T	0.01320	0.0043	L	0.27053	0.805	0.39948	D	0.974495	B	0.19200	0.034	B	0.10450	0.005	T	0.65899	-0.6056	10	0.37606	T	0.19	.	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	3014	Q96Q15	SMG1_HUMAN	Q	3014	ENSP00000402515:R3014Q;ENSP00000374118:R3014Q	ENSP00000374118:R3014Q	R	-	2	0	SMG1	18748841	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.660000	0.68018	2.880000	0.98712	0.650000	0.86243	CGG		0.368	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18847356	18847356	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:18847356C>T	ENST00000446231.2	-	48	8368	c.7956G>A	c.(7954-7956)ccG>ccA	p.P2652P	SMG1_ENST00000389467.3_Silent_p.P2652P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2652					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P2648P(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATATGGCCTTCGGATACTGCA	0.537																																					p.P2652P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7956A	16						.						55.0	52.0	53.0					16																	18847356		2032	4183	6215	18754857	SO:0001819	synonymous_variant	23049	exon48			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7956G>A	16.37:g.18847356C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18754857	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.537	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
RPS2	6187	broad.mit.edu	37	16	2013210	2013210	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:2013210C>T	ENST00000343262.4	-	4	371	c.315G>A	c.(313-315)gaG>gaA	p.E105E	RPS2_ENST00000529806.1_Silent_p.E75E|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Silent_p.E105E|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000530225.1_Silent_p.E105E|SNHG9_ENST00000459373.1_lincRNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	105	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E105E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCTTCAAAACCTCATCCTTGA	0.507																																					p.E105E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G315A	16						.						8.0	10.0	9.0					16																	2013210		2187	4278	6465	1953211	SO:0001819	synonymous_variant	6187	exon4			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.315G>A	16.37:g.2013210C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1953211	NM_002952	B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	CCDS10452.1																																																																																				0.507	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952	
CCP110	9738	broad.mit.edu	37	16	19543754	19543754	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:19543754G>T	ENST00000381396.5	+	3	405	c.158G>T	c.(157-159)aGa>aTa	p.R53I	CCP110_ENST00000396208.2_Missense_Mutation_p.R53I|CCP110_ENST00000396212.2_Missense_Mutation_p.R53I	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	53	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.R53I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATTGAGAAAAGAAAGGAAATG	0.333																																					p.R53I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158T	16						.						84.0	78.0	80.0					16																	19543754		2197	4300	6497	19451255	SO:0001583	missense	9738	exon4			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.158G>T	16.37:g.19543754G>T	ENSP00000370803:p.Arg53Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19451255	NM_014711	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415618	0.42817	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.21191	2.02;2.03;2.02	5.31	4.35	0.52113	.	0.144227	0.49305	D	0.000148	T	0.32615	0.0835	L	0.58101	1.795	0.46586	D	0.999111	D;D	0.63880	0.993;0.993	P;P	0.59703	0.862;0.862	T	0.06516	-1.0822	10	0.51188	T	0.08	-1.7481	5.9278	0.19122	0.2037:0.0:0.6538:0.1425	.	53;53	O43303;O43303-2	CP110_HUMAN;.	I	53	ENSP00000379515:R53I;ENSP00000370803:R53I;ENSP00000379511:R53I	ENSP00000370803:R53I	R	+	2	0	CCP110	19451255	1.000000	0.71417	0.997000	0.53966	0.440000	0.31957	1.850000	0.39328	1.364000	0.46038	-0.251000	0.11542	AGA		0.333	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711	
C16orf62	57020	broad.mit.edu	37	16	19680485	19680485	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:19680485A>C	ENST00000251143.5	+	27	2237	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	C16orf62_ENST00000542263.1_Missense_Mutation_p.D738A|C16orf62_ENST00000438132.3_Missense_Mutation_p.D831A|C16orf62_ENST00000417362.2_Missense_Mutation_p.D649A|C16orf62_ENST00000543152.1_Missense_Mutation_p.D491A|C16orf62_ENST00000448695.1_Missense_Mutation_p.D592A			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	742						integral component of membrane (GO:0016021)		p.D831A(1)|p.D742A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTTGCAGCTGATGCTTTTTTC	0.433																																					p.D831A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2492C	16						.						93.0	92.0	92.0					16																	19680485		2196	4300	6496	19587986	SO:0001583	missense	57020	exon27				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2225A>C	16.37:g.19680485A>C	ENSP00000251143:p.Asp742Ala	Somatic		Capture	Illumina HiSeq	Phase_I	19587986	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.120142	0.77323	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.51	5.51	0.81932	.	0.094831	0.64402	D	0.000001	T	0.79251	0.4414	M	0.87180	2.865	0.58432	D	0.999999	P;D	0.89917	0.879;1.0	P;D	0.85130	0.473;0.997	T	0.82585	-0.0384	9	.	.	.	-8.9793	15.6783	0.77344	1.0:0.0:0.0:0.0	.	738;742	F5H7K1;Q7Z3J2	.;CP062_HUMAN	A	831;738;742;649;592	ENSP00000400815:D831A;ENSP00000442468:D738A;ENSP00000251143:D742A;ENSP00000395973:D649A;ENSP00000398009:D592A	.	D	+	2	0	C16orf62	19587986	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.146000	0.77373	2.105000	0.64084	0.524000	0.50904	GAT		0.433	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
GPRC5B	51704	broad.mit.edu	37	16	19883244	19883244	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:19883244G>A	ENST00000300571.2	-	2	1115	c.924C>T	c.(922-924)ttC>ttT	p.F308F	GPRC5B_ENST00000569479.1_Silent_p.F308F|GPRC5B_ENST00000535671.1_Silent_p.F308F|GPRC5B_ENST00000537135.1_Silent_p.F334F|GPRC5B_ENST00000569847.1_Silent_p.F308F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	308					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.F308F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCGACGTGTCGAAGTAGTTGG	0.627																																					p.F308F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	16						.						81.0	75.0	77.0					16																	19883244		2197	4300	6497	19790745	SO:0001819	synonymous_variant	51704	exon2			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.924C>T	16.37:g.19883244G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19790745	NM_016235	D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	CCDS10581.1																																																																																				0.627	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1		
UMOD	7369	broad.mit.edu	37	16	20352570	20352570	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20352570C>A	ENST00000570689.1	-	7	1566	c.1420G>T	c.(1420-1422)Ggc>Tgc	p.G474C	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.G474C|UMOD_ENST00000396134.2_Missense_Mutation_p.G507C|UMOD_ENST00000302509.4_Missense_Mutation_p.G474C|UMOD_ENST00000396138.4_Missense_Mutation_p.G523C|UMOD_ENST00000424589.1_Missense_Mutation_p.G507C			P07911	UROM_HUMAN	uromodulin	474	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.G474C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACGGAGGAGCCTTGGTAGGGC	0.597																																					p.G474C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1420T	16						.						90.0	71.0	77.0					16																	20352570		2203	4300	6503	20260071	SO:0001583	missense	7369	exon7			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1420G>T	16.37:g.20352570C>A	ENSP00000460548:p.Gly474Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20260071	NM_003361	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774165	0.69992	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.34	5.34	0.76211	Zona pellucida sperm-binding protein (3);	0.000000	0.53938	D	0.000058	D	0.92450	0.7603	M	0.89214	3.015	0.42323	D	0.992269	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93718	0.7030	10	0.87932	D	0	-39.9571	16.9011	0.86114	0.0:1.0:0.0:0.0	.	507;474	E9PEA4;P07911	.;UROM_HUMAN	C	474;507;507;474;452;474	ENSP00000379438:G507C;ENSP00000416346:G507C;ENSP00000306279:G474C;ENSP00000379446:G474C	ENSP00000306279:G474C	G	-	1	0	UMOD	20260071	0.824000	0.29247	0.883000	0.34634	0.827000	0.46813	2.696000	0.47052	2.646000	0.89796	0.655000	0.94253	GGC		0.597	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
PDILT	204474	broad.mit.edu	37	16	20396088	20396088	+	Silent	SNP	G	G	A	rs566608055		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20396088G>A	ENST00000302451.4	-	3	536	c.288C>T	c.(286-288)atC>atT	p.I96I	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	96					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.I96I(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGCCAAAGCCGATCCCATTCT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.001				p.I96I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C288T	16						.						324.0	315.0	319.0					16																	20396088		2203	4300	6503	20303589	SO:0001819	synonymous_variant	204474	exon3				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.288C>T	16.37:g.20396088G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20303589	NM_174924	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.498	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ACSM2B	348158	broad.mit.edu	37	16	20566707	20566707	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20566707C>T	ENST00000329697.6	-	4	648	c.480G>A	c.(478-480)ggG>ggA	p.G160G	ACSM2B_ENST00000567001.1_Silent_p.G160G|ACSM2B_ENST00000414188.2_Silent_p.G160G|ACSM2B_ENST00000565322.1_Silent_p.G81G|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Silent_p.G160G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	160					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.G160G(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGACTTCATCCCCAGCAACAA	0.458																																					p.G160G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G480A	16						.																																			20474208	SO:0001819	synonymous_variant	348158	exon4			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.480G>A	16.37:g.20566707C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20474208	NM_001105069	Q86YT1	Silent	SNP	ENST00000329697.6	37	CCDS10586.1																																																																																				0.458	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
ACSM1	116285	broad.mit.edu	37	16	20673143	20673143	+	Missense_Mutation	SNP	C	C	T	rs146842441		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20673143C>T	ENST00000307493.4	-	6	1032	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R322Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	322					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R322Q(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGAATCATTCGATATATAGA	0.358																																					p.R322Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	16						.						87.0	84.0	85.0					16																	20673143		2201	4300	6501	20580644	SO:0001583	missense	116285	exon6			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.965G>A	16.37:g.20673143C>T	ENSP00000301956:p.Arg322Gln	Somatic		Capture	Illumina HiSeq	Phase_I	20580644	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.15|15.15	2.746703|2.746703	0.49257|0.49257	.|.	.|.	ENSG00000166743|ENSG00000166743	ENST00000524149|ENST00000307493;ENST00000520010	.|T;T	.|0.44482	.|0.92;0.92	4.8|4.8	4.8|4.8	0.61643|0.61643	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.39687	.|N	.|0.001299	T|T	0.63462|0.63462	0.2513|0.2513	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.65977|0.65977	-0.6037|-0.6037	5|10	.|0.62326	.|D	.|0.03	.|.	15.7252|15.7252	0.77751|0.77751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|322	.|Q08AH1	.|ACSM1_HUMAN	K|Q	28|322	.|ENSP00000301956:R322Q;ENSP00000428047:R322Q	.|ENSP00000301956:R322Q	E|R	-|-	1|2	0|0	ACSM1|ACSM1	20580644|20580644	0.887000|0.887000	0.30362|0.30362	0.987000|0.987000	0.45799|0.45799	0.238000|0.238000	0.25445|0.25445	3.402000|3.402000	0.52608|0.52608	2.636000|2.636000	0.89361|0.89361	0.603000|0.603000	0.83216|0.83216	GAA|CGA		0.358	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
ACSM3	6296	broad.mit.edu	37	16	20802235	20802235	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20802235G>A	ENST00000289416.5	+	10	1801				ERI2_ENST00000300005.3_Missense_Mutation_p.S251L|ACSM3_ENST00000567387.1_Intron|ACSM3_ENST00000450120.2_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S251L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CCAGGTCCACGAAGGCAAGAG	0.438																																					p.S251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	16						.						94.0	103.0	100.0					16																	20802235		2201	4300	6501	20709736	SO:0001627	intron_variant	112479	exon9			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1326+225G>A	16.37:g.20802235G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20709736	NM_080663	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437669	0.25900	.	.	ENSG00000196678	ENST00000300005	.	.	.	3.3	2.34	0.29019	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.19775	N	0.99996	P	0.46706	0.883	B	0.34038	0.174	T	0.09862	-1.0655	7	0.46703	T	0.11	.	6.8195	0.23849	0.1305:0.0:0.8695:0.0	.	251	A8K979-4	.	L	251	.	ENSP00000300005:S251L	S	-	2	0	ERI2	20709736	0.002000	0.14202	0.007000	0.13788	0.015000	0.08874	0.135000	0.15952	0.949000	0.37715	0.555000	0.69702	TCG		0.438	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
ERI2	112479	broad.mit.edu	37	16	20811303	20811303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20811303C>A	ENST00000357967.4	-	7	661	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	ERI2_ENST00000563117.1_Nonsense_Mutation_p.E114*|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000300005.3_Nonsense_Mutation_p.E207*|ERI2_ENST00000564349.1_Nonsense_Mutation_p.E114*|ERI2_ENST00000569729.1_Nonsense_Mutation_p.E207*	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	207	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E207*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CCTGAGAATTCTATTCCTACT	0.279																																					p.E207X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G619T	16						.						51.0	56.0	54.0					16																	20811303		2201	4295	6496	20718804	SO:0001587	stop_gained	112479	exon7			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.619G>T	16.37:g.20811303C>A	ENSP00000350651:p.Glu207*	Somatic		Capture	Illumina HiSeq	Phase_I	20718804	NM_080663	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Nonsense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	C	43	9.950659	0.99303	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	.	.	.	5.94	2.86	0.33363	.	0.337639	0.34959	N	0.003558	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-17.0453	8.3182	0.32113	0.0:0.6258:0.2502:0.124	.	.	.	.	X	207	.	ENSP00000300005:E207X	E	-	1	0	ERI2	20718804	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.468000	0.22051	0.809000	0.34255	0.650000	0.86243	GAA		0.279	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663	
LOC81691	81691	broad.mit.edu	37	16	20827513	20827513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20827513G>A	ENST00000261377.6	+	5	663	c.454G>A	c.(454-456)Gat>Aat	p.D152N	AC004381.6_ENST00000564274.1_Missense_Mutation_p.D152N|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D152N|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.D152N(1)									AAGAGCTGGAGATCTGCCCAA	0.393																																					p.D152N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	16						.						95.0	80.0	85.0					16																	20827513		2201	4300	6501	20735014	SO:0001583	missense	81691	exon5																														ENST00000261377.6:c.454G>A	16.37:g.20827513G>A	ENSP00000261377:p.Asp152Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20735014	NM_001199053		Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607412	0.28623	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.30714	1.52;1.93	5.03	-9.15	0.00698	.	2.339540	0.01078	N	0.004936	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.15350	-1.0440	10	0.16896	T	0.51	-0.0104	1.2639	0.02007	0.4002:0.2589:0.1571:0.1838	.	152;152	Q96IC2-2;Q96IC2	.;REXON_HUMAN	N	152	ENSP00000261378:D152N;ENSP00000261377:D152N	ENSP00000261377:D152N	D	+	1	0	AC004381.6	20735014	0.005000	0.15991	0.000000	0.03702	0.135000	0.20990	-0.077000	0.11394	-1.282000	0.02396	-0.291000	0.09656	GAT		0.393	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2		
DNAH3	55567	broad.mit.edu	37	16	21115869	21115869	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21115869C>T	ENST00000261383.3	-	16	2288	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	DNAH3_ENST00000415178.1_Silent_p.Q763Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	763	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Q763Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATCTTCAATCTGGTCTGGCC	0.478																																					p.Q763Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2289A	16						.						160.0	148.0	152.0					16																	21115869		2201	4300	6501	21023370	SO:0001819	synonymous_variant	55567	exon16			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2289G>A	16.37:g.21115869C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21023370	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21151886	21151886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21151886C>A	ENST00000261383.3	-	5	666	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E223*|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	223	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E223*(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTTCTTTTCTTTACTTTCC	0.483																																					p.E223X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G667T	16						.						265.0	217.0	233.0					16																	21151886		2201	4300	6501	21059387	SO:0001587	stop_gained	55567	exon5			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.667G>T	16.37:g.21151886C>A	ENSP00000261383:p.Glu223*	Somatic		Capture	Illumina HiSeq	Phase_I	21059387	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997595	0.35226	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.07	5.07	0.68467	.	0.067200	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.3961	0.87445	0.0:1.0:0.0:0.0	.	.	.	.	X	223;223;194	.	ENSP00000261383:E223X	E	-	1	0	DNAH3	21059387	0.998000	0.40836	0.170000	0.22879	0.038000	0.13279	3.637000	0.54324	2.627000	0.88993	0.655000	0.94253	GAA		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
TMEM159	57146	broad.mit.edu	37	16	21185437	21185437	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21185437C>A	ENST00000233047.4	+	4	840	c.372C>A	c.(370-372)gtC>gtA	p.V124V	TMEM159_ENST00000572599.1_Silent_p.V124V|TMEM159_ENST00000451578.2_Silent_p.V148V|TMEM159_ENST00000261388.3_Silent_p.V124V|TMEM159_ENST00000572258.1_Intron			Q96B96	TM159_HUMAN	transmembrane protein 159	124						integral component of membrane (GO:0016021)		p.V124V(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		ATGTAGTGGTCTCCAGCCTCA	0.423																																					p.V124V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372A	16						.						168.0	130.0	143.0					16																	21185437		2200	4300	6500	21092938	SO:0001819	synonymous_variant	57146	exon4			AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.372C>A	16.37:g.21185437C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21092938	NM_020422	A6NMA9|B4DEC1|O00323	Silent	SNP	ENST00000233047.4	37	CCDS10595.1																																																																																				0.423	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422	
ZP2	7783	broad.mit.edu	37	16	21208827	21208827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21208827C>T	ENST00000574002.1	-	20	2694	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	ZP2_ENST00000219593.4_Missense_Mutation_p.E738K|ZP2_ENST00000574091.1_Missense_Mutation_p.E729K|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	738					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.E738K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCCTTTTCTCGTACAGGTAG	0.453																																					p.E738K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2212A	16						.						89.0	80.0	83.0					16																	21208827		2200	4300	6500	21116328	SO:0001583	missense	7783	exon19			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2212G>A	16.37:g.21208827C>T	ENSP00000460971:p.Glu738Lys	Somatic		Capture	Illumina HiSeq	Phase_I	21116328	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	6.535	0.466874	0.12402	.	.	ENSG00000103310	ENST00000219593	T	0.68025	-0.3	4.68	2.45	0.29901	.	0.156171	0.43579	N	0.000558	T	0.25975	0.0633	N	0.00771	-1.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36335	-0.9752	10	0.02654	T	1	-11.6799	6.2027	0.20585	0.0:0.1969:0.0:0.8031	.	729;738	Q4VAP1;Q05996	.;ZP2_HUMAN	K	738	ENSP00000219593:E738K	ENSP00000219593:E738K	E	-	1	0	ZP2	21116328	0.959000	0.32827	0.286000	0.24833	0.003000	0.03518	1.770000	0.38532	0.543000	0.28864	-0.255000	0.11280	GAG		0.453	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
ZP2	7783	broad.mit.edu	37	16	21213322	21213322	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21213322T>C	ENST00000574002.1	-	13	1792	c.1310A>G	c.(1309-1311)tAt>tGt	p.Y437C	ZP2_ENST00000219593.4_Missense_Mutation_p.Y437C|ZP2_ENST00000574091.1_Missense_Mutation_p.Y437C|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.Y437C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTCGTTTTCATAGACGACTTT	0.398																																					p.Y437C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1310G	16						.						99.0	93.0	95.0					16																	21213322		2200	4300	6500	21120823	SO:0001583	missense	7783	exon12			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1310A>G	16.37:g.21213322T>C	ENSP00000460971:p.Tyr437Cys	Somatic		Capture	Illumina HiSeq	Phase_I	21120823	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211396	0.58343	.	.	ENSG00000103310	ENST00000219593	D	0.87179	-2.22	5.83	5.83	0.93111	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000008	D	0.95671	0.8592	H	0.95950	3.745	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96956	0.9698	10	0.87932	D	0	-24.0444	15.3612	0.74475	0.0:0.0:0.0:1.0	.	437;437	Q4VAP1;Q05996	.;ZP2_HUMAN	C	437	ENSP00000219593:Y437C	ENSP00000219593:Y437C	Y	-	2	0	ZP2	21120823	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	6.090000	0.71397	2.225000	0.72522	0.383000	0.25322	TAT		0.398	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
ZP2	7783	broad.mit.edu	37	16	21213536	21213536	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21213536G>A	ENST00000574002.1	-	12	1658	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	ZP2_ENST00000219593.4_Silent_p.D392D|ZP2_ENST00000574091.1_Silent_p.D392D|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	392	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.D392D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGTACCCAGGTCAAGAGCTG	0.537																																					p.D392D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1176T	16						.						91.0	84.0	86.0					16																	21213536		2200	4300	6500	21121037	SO:0001819	synonymous_variant	7783	exon11			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1176C>T	16.37:g.21213536G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21121037	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																				0.537	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
ZP2	7783	broad.mit.edu	37	16	21214451	21214451	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21214451G>T	ENST00000574002.1	-	11	1576	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	ZP2_ENST00000219593.4_Missense_Mutation_p.S365Y|ZP2_ENST00000574091.1_Missense_Mutation_p.S365Y|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	365					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.S365Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTTACCTATAGAAACGGGTGA	0.413																																					p.S365Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1094A	16						.						92.0	91.0	92.0					16																	21214451		2200	4300	6500	21121952	SO:0001583	missense	7783	exon10			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1094C>A	16.37:g.21214451G>T	ENSP00000460971:p.Ser365Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21121952	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660092	0.47572	.	.	ENSG00000103310	ENST00000219593	T	0.77229	-1.08	6.08	1.98	0.26296	.	0.734852	0.13262	N	0.401182	D	0.83018	0.5163	M	0.76002	2.32	0.09310	N	1	D;D	0.63880	0.984;0.993	P;P	0.61201	0.885;0.885	T	0.70447	-0.4869	10	0.66056	D	0.02	-9.5546	5.2259	0.15393	0.2214:0.0:0.6341:0.1445	.	365;365	Q4VAP1;Q05996	.;ZP2_HUMAN	Y	365	ENSP00000219593:S365Y	ENSP00000219593:S365Y	S	-	2	0	ZP2	21121952	0.891000	0.30450	0.023000	0.16930	0.755000	0.42902	1.465000	0.35299	0.450000	0.26774	-0.182000	0.12963	TCT		0.413	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
ZP2	7783	broad.mit.edu	37	16	21218180	21218180	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21218180G>T	ENST00000574002.1	-	6	944	c.462C>A	c.(460-462)atC>atA	p.I154I	ZP2_ENST00000219593.4_Silent_p.I154I|ZP2_ENST00000574091.1_Silent_p.I154I|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	154					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.I154I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTTCTGGCAGATTGTAGATG	0.502																																					p.I154I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|stomach(1)	c.C462A	16						.						157.0	149.0	152.0					16																	21218180		2199	4300	6499	21125681	SO:0001819	synonymous_variant	7783	exon5			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.462C>A	16.37:g.21218180G>T		Somatic		Capture	Illumina HiSeq	Phase_I	21125681	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																				0.502	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
OTOA	146183	broad.mit.edu	37	16	21690360	21690360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21690360G>T	ENST00000286149.4	+	3	125	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	OTOA_ENST00000388958.3_Nonsense_Mutation_p.E42*			Q7RTW8	OTOAN_HUMAN	otoancorin	42					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.E42*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTTTAGGAAGAAATAATAGA	0.388																																					p.E42X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G124T	16						.						224.0	222.0	223.0					16																	21690360		2199	4300	6499	21597861	SO:0001587	stop_gained	146183	exon3			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.124G>T	16.37:g.21690360G>T	ENSP00000286149:p.Glu42*	Somatic		Capture	Illumina HiSeq	Phase_I	21597861	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Nonsense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	37	6.157820	0.97334	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	.	.	.	6.02	5.05	0.67936	.	0.146681	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3773	14.9718	0.71241	0.0:0.1434:0.8566:0.0	.	.	.	.	X	42	.	ENSP00000286149:E42X	E	+	1	0	OTOA	21597861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	1.499000	0.48617	0.650000	0.86243	GAA		0.388	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
OTOA	146183	broad.mit.edu	37	16	21742248	21742248	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21742248A>T	ENST00000286149.4	+	20	2341	c.2340A>T	c.(2338-2340)acA>acT	p.T780T	OTOA_ENST00000388957.3_Silent_p.T442T|OTOA_ENST00000388956.4_Silent_p.T687T|OTOA_ENST00000388958.3_Silent_p.T766T			Q7RTW8	OTOAN_HUMAN	otoancorin	780					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.T766T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTATAGCCACAAAGGTAATGT	0.453																																					p.T766T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2298T	16						.						21.0	18.0	19.0					16																	21742248		2190	4274	6464	21649749	SO:0001819	synonymous_variant	146183	exon20			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2340A>T	16.37:g.21742248A>T		Somatic		Capture	Illumina HiSeq	Phase_I	21649749	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37																																																																																					0.453	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
OTOA	146183	broad.mit.edu	37	16	21747669	21747669	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21747669C>T	ENST00000286149.4	+	21	2432	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	OTOA_ENST00000388957.3_Missense_Mutation_p.R473W|OTOA_ENST00000388956.4_Missense_Mutation_p.R718W|OTOA_ENST00000388958.3_Missense_Mutation_p.R797W			Q7RTW8	OTOAN_HUMAN	otoancorin	811					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.R797W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCAGTCTGTTCGGAACAGCAG	0.478																																					p.R797W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2389T	16						.						95.0	86.0	89.0					16																	21747669		2198	4300	6498	21655170	SO:0001583	missense	146183	exon21			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2431C>T	16.37:g.21747669C>T	ENSP00000286149:p.Arg811Trp	Somatic		Capture	Illumina HiSeq	Phase_I	21655170	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	C	6.524	0.464830	0.12402	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.67698	2.61;2.61;2.61;-0.28	4.18	2.17	0.27698	.	0.990599	0.08209	N	0.981051	T	0.50905	0.1643	L	0.28115	0.83	0.24253	N	0.995314	B;B;B;B	0.12013	0.002;0.002;0.005;0.002	B;B;B;B	0.11329	0.006;0.006;0.004;0.006	T	0.41215	-0.9521	10	0.48119	T	0.1	-3.6124	4.7923	0.13254	0.2121:0.6752:0.0:0.1127	.	811;718;473;797	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	W	797;811;718;473;206	ENSP00000373610:R797W;ENSP00000286149:R811W;ENSP00000373608:R718W;ENSP00000373609:R473W	ENSP00000286149:R811W	R	+	1	2	OTOA	21655170	0.000000	0.05858	0.827000	0.32855	0.222000	0.24845	0.126000	0.15769	0.380000	0.24823	0.400000	0.26472	CGG		0.478	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
UQCRC2	7385	broad.mit.edu	37	16	21987497	21987497	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21987497G>T	ENST00000268379.4	+	12	1821	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S	UQCRC2_ENST00000561553.1_Missense_Mutation_p.A353S	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	353					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A353S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGTTATCAAGGCTGCCTATAA	0.403																																					p.A353S	Colon(123;450 1645 12841 25393 45623)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057T	16						.						113.0	101.0	105.0					16																	21987497		2198	4300	6498	21894998	SO:0001583	missense	7385	exon12			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.1057G>T	16.37:g.21987497G>T	ENSP00000268379:p.Ala353Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21894998	NM_003366	B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412560	0.62511	.	.	ENSG00000140740	ENST00000268379	T	0.09445	2.98	5.4	5.4	0.78164	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	M	0.68593	2.085	0.80722	D	1	B	0.15473	0.013	B	0.36134	0.218	T	0.05886	-1.0858	10	0.21540	T	0.41	-8.0742	18.1217	0.89573	0.0:0.0:1.0:0.0	.	353	P22695	QCR2_HUMAN	S	353	ENSP00000268379:A353S	ENSP00000268379:A353S	A	+	1	0	UQCRC2	21894998	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.300000	0.65721	2.683000	0.91414	0.655000	0.94253	GCT		0.403	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	
USP31	57478	broad.mit.edu	37	16	23079576	23079576	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23079576T>G	ENST00000219689.7	-	16	3849	c.3850A>C	c.(3850-3852)Aat>Cat	p.N1284H	USP31_ENST00000567975.1_Missense_Mutation_p.N577H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.N1284H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTATTTGCATTTGGCTGCTGG	0.537																																					p.N1284H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3850C	16						.						224.0	212.0	216.0					16																	23079576		2197	4300	6497	22987077	SO:0001583	missense	57478	exon16			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3850A>C	16.37:g.23079576T>G	ENSP00000219689:p.Asn1284His	Somatic		Capture	Illumina HiSeq	Phase_I	22987077	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	9.735	1.163294	0.21538	.	.	ENSG00000103404	ENST00000219689	T	0.10960	2.82	5.8	3.53	0.40419	.	1.000740	0.08064	N	0.998709	T	0.11836	0.0288	L	0.44542	1.39	0.23156	N	0.998205	B;B	0.19073	0.002;0.033	B;B	0.18561	0.002;0.022	T	0.33240	-0.9876	10	0.72032	D	0.01	-2.891	7.997	0.30273	0.0:0.0716:0.1481:0.7802	.	1284;577	Q70CQ4;B3KS48	UBP31_HUMAN;.	H	1284	ENSP00000219689:N1284H	ENSP00000219689:N1284H	N	-	1	0	USP31	22987077	0.133000	0.22466	0.090000	0.20809	0.466000	0.32739	1.575000	0.36493	0.449000	0.26747	0.533000	0.62120	AAT		0.537	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
USP31	57478	broad.mit.edu	37	16	23113703	23113703	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23113703C>T	ENST00000219689.7	-	6	1170	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.D391N(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAAATGCAGTCGCTTTCATGG	0.413																																					p.D391N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1171A	16						.						90.0	83.0	86.0					16																	23113703		2197	4300	6497	23021204	SO:0001583	missense	57478	exon6			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1171G>A	16.37:g.23113703C>T	ENSP00000219689:p.Asp391Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23021204	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414134	0.96092	.	.	ENSG00000103404	ENST00000219689	T	0.12039	2.72	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.147682	0.48286	D	0.000191	T	0.41282	0.1152	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30534	-0.9975	10	0.66056	D	0.02	-18.0205	18.0889	0.89468	0.0:1.0:0.0:0.0	.	391	Q70CQ4	UBP31_HUMAN	N	391	ENSP00000219689:D391N	ENSP00000219689:D391N	D	-	1	0	USP31	23021204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.458000	0.80787	2.504000	0.84457	0.655000	0.94253	GAC		0.413	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
GGA2	23062	broad.mit.edu	37	16	23498053	23498053	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23498053A>C	ENST00000309859.4	-	7	720	c.638T>G	c.(637-639)tTa>tGa	p.L213*	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	213	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.L213*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATTCTTGATTAACCGGTTTGC	0.493																																					p.L213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T638G	16						.						289.0	276.0	280.0					16																	23498053		2197	4300	6497	23405554	SO:0001587	stop_gained	23062	exon7			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.638T>G	16.37:g.23498053A>C	ENSP00000311962:p.Leu213*	Somatic		Capture	Illumina HiSeq	Phase_I	23405554	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Nonsense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	A	37	6.035701	0.97221	.	.	ENSG00000103365	ENST00000309859	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.623	14.5959	0.68407	1.0:0.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000311962:L213X	L	-	2	0	GGA2	23405554	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.812000	0.91959	2.333000	0.79357	0.533000	0.62120	TTA		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
UBFD1	56061	broad.mit.edu	37	16	23581879	23581879	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23581879G>T	ENST00000395878.3	+	7	1279	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	UBFD1_ENST00000219638.4_Missense_Mutation_p.D524Y|CTD-2196E14.6_ENST00000568262.2_RNA|UBFD1_ENST00000567212.1_Missense_Mutation_p.D291Y	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	300							poly(A) RNA binding (GO:0044822)	p.D300Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGCAATCAAAGACACTGTGCT	0.517																																					p.D300Y	Melanoma(22;290 1069 22358 48158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G898T	16						.						115.0	110.0	112.0					16																	23581879		1882	4123	6005	23489380	SO:0001583	missense	56061	exon7			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.898G>T	16.37:g.23581879G>T	ENSP00000379217:p.Asp300Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23489380	NM_019116	A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077206	0.76415	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79986	0.4541	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.82327	-0.0512	9	0.87932	D	0	-13.0524	18.2402	0.89965	0.0:0.0:1.0:0.0	.	300	O14562	UBFD1_HUMAN	Y	524;300;177	.	ENSP00000219638:D524Y	D	+	1	0	UBFD1	23489380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.557000	0.86248	0.655000	0.94253	GAC		0.517	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116	
PRKCB	5579	broad.mit.edu	37	16	24226002	24226002	+	Intron	SNP	C	C	T	rs369345275		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24226002C>T	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Silent_p.F629F	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.F629F(1)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGAAAACTTCGACCGATTTT	0.423																																					p.F629F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1887T	16						.	C	,	0,4394		0,0,2197	74.0	69.0	71.0		1887,	6.0	1.0	16		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	PRKCB	NM_002738.6,NM_212535.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	629/674,	24226002	1,12993	2197	4300	6497	24133503	SO:0001627	intron_variant	5579	exon17			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5280C>T	16.37:g.24226002C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24133503	NM_002738	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
CACNG3	10368	broad.mit.edu	37	16	24373029	24373029	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24373029T>G	ENST00000005284.3	+	4	1995	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	265					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F265V(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATCTCGATGTTCACCCTCTC	0.587																																					p.F265V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T793G	16						.						103.0	110.0	107.0					16																	24373029		2197	4300	6497	24280530	SO:0001583	missense	10368	exon4			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.793T>G	16.37:g.24373029T>G	ENSP00000005284:p.Phe265Val	Somatic		Capture	Illumina HiSeq	Phase_I	24280530	NM_006539		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	t	17.86	3.493551	0.64186	.	.	ENSG00000006116	ENST00000005284	T	0.54479	0.57	4.93	4.93	0.64822	.	0.056818	0.64402	D	0.000001	T	0.37732	0.1014	N	0.22421	0.69	0.44937	D	0.997952	P	0.34800	0.469	B	0.27500	0.08	T	0.42137	-0.9469	10	0.87932	D	0	-23.3309	14.3047	0.66377	0.0:0.0:0.0:1.0	.	265	O60359	CCG3_HUMAN	V	265	ENSP00000005284:F265V	ENSP00000005284:F265V	F	+	1	0	CACNG3	24280530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.539000	0.82063	1.839000	0.53478	0.524000	0.50904	TTC		0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
TNRC6A	27327	broad.mit.edu	37	16	24788549	24788549	+	Missense_Mutation	SNP	G	G	T	rs117821015	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24788549G>T	ENST00000395799.3	+	5	588	c.459G>T	c.(457-459)caG>caT	p.Q153H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q153H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	153	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q153H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGAGGGGTCAGCATTTTCCTG	0.483																																					p.Q153H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459T	16						.						136.0	150.0	145.0					16																	24788549		2168	4288	6456	24696050	SO:0001583	missense	27327	exon5			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.459G>T	16.37:g.24788549G>T	ENSP00000379144:p.Gln153His	Somatic		Capture	Illumina HiSeq	Phase_I	24696050	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717198	0.68844	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.21543	2.0;2.03	5.93	3.97	0.46021	.	0.000000	0.64402	D	0.000005	T	0.33265	0.0857	L	0.55213	1.73	0.80722	D	1	D	0.61697	0.99	P	0.56865	0.808	T	0.02282	-1.1183	10	0.72032	D	0.01	-0.8446	11.771	0.51958	0.1608:0.0:0.8392:0.0	.	153	Q8NDV7	TNR6A_HUMAN	H	153	ENSP00000326900:Q153H;ENSP00000379144:Q153H	ENSP00000326900:Q153H	Q	+	3	2	TNRC6A	24696050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.583000	0.46094	2.814000	0.96858	0.591000	0.81541	CAG		0.483	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNRC6A	27327	broad.mit.edu	37	16	24816054	24816054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24816054A>G	ENST00000395799.3	+	13	3995	c.3866A>G	c.(3865-3867)aAc>aGc	p.N1289S	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Intron	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1289	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N1289S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAATCCCAAAACATGCAGTTT	0.473																																					p.N1289S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3866G	16						.						177.0	167.0	170.0					16																	24816054		2197	4300	6497	24723555	SO:0001583	missense	27327	exon13			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3866A>G	16.37:g.24816054A>G	ENSP00000379144:p.Asn1289Ser	Somatic		Capture	Illumina HiSeq	Phase_I	24723555	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	5.367	0.253045	0.10185	.	.	ENSG00000090905	ENST00000395799	T	0.10668	2.85	5.82	4.73	0.59995	.	0.204226	0.44285	D	0.000480	T	0.03011	0.0089	N	0.01048	-1.04	0.80722	D	1	B	0.17852	0.024	B	0.18263	0.021	T	0.33240	-0.9876	10	0.07325	T	0.83	-6.551	9.0418	0.36322	0.859:0.0:0.141:0.0	.	1289	Q8NDV7	TNR6A_HUMAN	S	1289	ENSP00000379144:N1289S	ENSP00000379144:N1289S	N	+	2	0	TNRC6A	24723555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.611000	0.61162	1.033000	0.39918	0.528000	0.53228	AAC		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
SLC5A11	115584	broad.mit.edu	37	16	24921797	24921797	+	Splice_Site	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24921797C>G	ENST00000347898.3	+	15	2443	c.1821C>G	c.(1819-1821)agC>agG	p.S607R	SLC5A11_ENST00000565769.1_Splice_Site_p.S543R|SLC5A11_ENST00000569071.1_Splice_Site_p.S451R|SLC5A11_ENST00000567758.1_Splice_Site_p.S572R|SLC5A11_ENST00000545376.1_Splice_Site_p.S537R|SLC5A11_ENST00000539472.1_Splice_Site_p.S543R|SLC5A11_ENST00000449109.2_Splice_Site_p.S451R|SLC5A11_ENST00000568579.1_Splice_Site_p.S537R|SLC5A11_ENST00000424767.2_Splice_Site_p.S572R	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.S607R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AAACCCACAGCTGTGAGTAGC	0.473																																					p.S607R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1821G	16						.						81.0	61.0	68.0					16																	24921797		2197	4300	6497	24829298	SO:0001630	splice_region_variant	115584	exon15			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1822+1C>G	16.37:g.24921797C>G		Somatic		Capture	Illumina HiSeq	Phase_I	24829298	NM_052944		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	8.835	0.940951	0.18281	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.5	-1.61	0.08399	.	.	.	.	.	T	0.36248	0.0960	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.11329	0.001;0.006;0.004;0.002	T	0.16364	-1.0405	9	0.22109	T	0.4	.	3.8316	0.08876	0.2596:0.4312:0.0:0.3092	.	537;572;607;451	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	R	607;451;572;537;543	ENSP00000289932:S607R;ENSP00000389606:S451R;ENSP00000416782:S572R;ENSP00000441384:S537R;ENSP00000441018:S543R	ENSP00000289932:S607R	S	+	3	2	SLC5A11	24829298	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.585000	0.05794	-0.228000	0.09869	0.514000	0.50259	AGC		0.473	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	Missense_Mutation
ZKSCAN2	342357	broad.mit.edu	37	16	25251704	25251704	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:25251704G>A	ENST00000328086.7	-	7	3140	c.2337C>T	c.(2335-2337)gtC>gtT	p.V779V	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	779					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V779V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACTTCCCACAGACACCACACT	0.463																																					p.V779V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2337T	16						.						55.0	54.0	54.0					16																	25251704		2197	4300	6497	25159205	SO:0001819	synonymous_variant	342357	exon7			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2337C>T	16.37:g.25251704G>A		Somatic		Capture	Illumina HiSeq	Phase_I	25159205	NM_001012981	A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	CCDS32410.1																																																																																				0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
PRSS27	83886	broad.mit.edu	37	16	2763576	2763576	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:2763576T>C	ENST00000302641.3	-	5	686	c.632A>G	c.(631-633)gAc>gGc	p.D211G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.D211G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCACAGCATGTCATTCTTGAT	0.582																																					p.D211G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A632G	16						.						271.0	191.0	218.0					16																	2763576		2198	4300	6498	2703577	SO:0001583	missense	83886	exon5			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.632A>G	16.37:g.2763576T>C	ENSP00000306390:p.Asp211Gly	Somatic		Capture	Illumina HiSeq	Phase_I	2703577	NM_031948		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587047	0.46110	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	T	0.81163	-1.46	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000025	T	0.81049	0.4742	N	0.16567	0.415	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81113	-0.1080	10	0.36615	T	0.2	.	13.1214	0.59329	0.0:0.0:0.0:1.0	.	211;175	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	211;175	ENSP00000306390:D211G	ENSP00000306390:D211G	D	-	2	0	PRSS27	2703577	1.000000	0.71417	0.995000	0.50966	0.017000	0.09413	2.938000	0.48987	1.991000	0.58162	0.363000	0.22086	GAC		0.582	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948	
C16orf82	162083	broad.mit.edu	37	16	27078644	27078644	+	lincRNA	SNP	C	C	T	rs373442970		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:27078644C>T	ENST00000505035.1	+	0	617				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCGGAGAGTGCGGCTGAACAG	0.657																																					p.R110W												.	.	0			c.C328T	16						.	C	TRP/ARG	0,4374		0,0,2187	18.0	25.0	23.0		328	-6.6	0.0	16		23	1,8549		0,1,4274	no	missense	C16orf82	NM_001145545.1	101	0,1,6461	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	110/155	27078644	1,12923	2187	4275	6462	26986145			0	exon1			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078644C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26986145	NM_001145545	B9EGC2|Q8NEF0	IGR	SNP	ENST00000505035.1	37																																																																																					0.657	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545	
SRRM2	23524	broad.mit.edu	37	16	2812046	2812046	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:2812046C>A	ENST00000301740.8	+	11	2066	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	506	Arg-rich.|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)	p.S506Y(1)		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						AGAGGTCATTCTCGATCCCGA	0.617																																					p.S506Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1517A	16						.						85.0	68.0	74.0					16																	2812046		2198	4300	6498	2752047	SO:0001583	missense	23524	exon11			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.1517C>A	16.37:g.2812046C>A	ENSP00000301740:p.Ser506Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	2752047	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123828	0.37436	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.32272	1.46	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.44222	0.1283	N	0.24115	0.695	0.45452	D	0.998424	D	0.65815	0.995	D	0.75484	0.986	T	0.35919	-0.9769	10	0.66056	D	0.02	-13.1621	17.9218	0.88969	0.0:1.0:0.0:0.0	.	506	Q9UQ35	SRRM2_HUMAN	Y	506;506;471	ENSP00000301740:S506Y	ENSP00000301740:S506Y	S	+	2	0	SRRM2	2752047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.573000	0.60893	2.837000	0.97791	0.655000	0.94253	TCT		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2819046	2819046	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:2819046T>C	ENST00000301740.8	+	12	8331	c.7782T>C	c.(7780-7782)cgT>cgC	p.R2594R	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2594	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)	p.R2594R(1)		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						GAGAGGGACGTCCTCCGGAGC	0.627																																					p.R2594R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T7782C	16						.						136.0	118.0	124.0					16																	2819046		2198	4300	6498	2759047	SO:0001819	synonymous_variant	23524	exon12			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.7782T>C	16.37:g.2819046T>C		Somatic		Capture	Illumina HiSeq	Phase_I	2759047	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
GTF3C1	2975	broad.mit.edu	37	16	27509117	27509117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:27509117G>A	ENST00000356183.4	-	14	2206	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P731S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	731					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.P731S(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCCCCTTGGGGCACTGGAGGC	0.483																																					p.P731S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2191T	16						.						92.0	87.0	89.0					16																	27509117		2197	4300	6497	27416618	SO:0001583	missense	2975	exon14			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2191C>T	16.37:g.27509117G>A	ENSP00000348510:p.Pro731Ser	Somatic		Capture	Illumina HiSeq	Phase_I	27416618	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515601	0.27123	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.21543	2.0	5.79	3.73	0.42828	.	0.658638	0.15719	N	0.248017	T	0.13457	0.0326	L	0.37561	1.115	0.09310	N	1	B;P	0.35307	0.166;0.494	B;B	0.32465	0.077;0.146	T	0.14671	-1.0464	10	0.23302	T	0.38	-18.3313	5.41	0.16342	0.1721:0.1671:0.6608:0.0	.	731;731	Q12789;Q12789-3	TF3C1_HUMAN;.	S	731;729	ENSP00000348510:P731S	ENSP00000348510:P731S	P	-	1	0	GTF3C1	27416618	0.163000	0.22920	0.014000	0.15608	0.897000	0.52465	0.584000	0.23864	1.450000	0.47717	0.650000	0.86243	CCC		0.483	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
XPO6	23214	broad.mit.edu	37	16	28167402	28167402	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:28167402C>T	ENST00000304658.5	-	7	1590	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.D350N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	364					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.D364N(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TACCTCTCATCGAGCTCTTCT	0.483																																					p.D364N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1090A	16						.						91.0	78.0	82.0					16																	28167402		1934	4147	6081	28074903	SO:0001583	missense	23214	exon7			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1090G>A	16.37:g.28167402C>T	ENSP00000302790:p.Asp364Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28074903	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147386	0.57151	.	.	ENSG00000169180	ENST00000304658	T	0.49720	0.77	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.45228	1.405	0.80722	D	1	P;D	0.89917	0.937;1.0	B;D	0.70016	0.195;0.967	T	0.60782	-0.7195	10	0.56958	D	0.05	-14.7541	17.5464	0.87863	0.0:1.0:0.0:0.0	.	364;364	B7ZM10;Q96QU8	.;XPO6_HUMAN	N	364	ENSP00000302790:D364N	ENSP00000302790:D364N	D	-	1	0	XPO6	28074903	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAT		0.483	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
ATP2A1	487	broad.mit.edu	37	16	28890838	28890838	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:28890838G>T	ENST00000357084.3	+	3	420	c.153G>T	c.(151-153)gaG>gaT	p.E51D	ATP2A1_ENST00000536376.1_5'Flank|SNORA43_ENST00000516652.1_RNA|RP11-22P6.3_ENST00000561547.1_RNA|ATP2A1_ENST00000395503.4_Missense_Mutation_p.E51D|RP11-22P6.3_ENST00000566956.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	51					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.E51D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCTGTGGGAGCTGGTGATAG	0.637																																					p.E51D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G153T	16						.						88.0	82.0	84.0					16																	28890838		2197	4300	6497	28798339	SO:0001583	missense	487	exon3				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.153G>T	16.37:g.28890838G>T	ENSP00000349595:p.Glu51Asp	Somatic		Capture	Illumina HiSeq	Phase_I	28798339	NM_173201	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815809	0.70912	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498	T;T	0.79352	-1.26;-1.26	5.47	5.47	0.80525	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.67397	2.05	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.72491	-0.4277	10	0.59425	D	0.04	.	11.5761	0.50862	0.0833:0.0:0.9167:0.0	.	51;51	O14983;O14983-2	AT2A1_HUMAN;.	D	51;51;88	ENSP00000349595:E51D;ENSP00000378879:E51D	ENSP00000349595:E51D	E	+	3	2	ATP2A1	28798339	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	3.463000	0.53050	2.566000	0.86566	0.561000	0.74099	GAG		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	
ATP2A1	487	broad.mit.edu	37	16	28913549	28913549	+	Missense_Mutation	SNP	C	C	T	rs121918115		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:28913549C>T	ENST00000357084.3	+	17	2633	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P664L|ATP2A1_ENST00000395503.4_Missense_Mutation_p.P789L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	789	Interacts with phospholamban 2. {ECO:0000250}.		P -> L (in BRM; almost complete loss of Ca(2+) transport activity because of reduced Ca(2+) affinity). {ECO:0000269|PubMed:10914677}.		apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.P789L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCCTGATCCCGGTGCAGCTG	0.667																																					p.P789L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2366T	16	GRCh37	CM001614	ATP2A1	M	rs121918115	.						74.0	78.0	77.0					16																	28913549		2197	4300	6497	28821050	SO:0001583	missense	487	exon17				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2366C>T	16.37:g.28913549C>T	ENSP00000349595:p.Pro789Leu	Somatic		Capture	Illumina HiSeq	Phase_I	28821050	NM_173201	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623702	0.87460	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99070	-5.39;-5.39;-5.39	4.95	4.95	0.65309	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.96175	3.78	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98019	1.0370	9	0.87932	D	0	.	17.0954	0.86633	0.0:1.0:0.0:0.0	.	664;789;789	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	789;789;826;664	ENSP00000349595:P789L;ENSP00000378879:P789L;ENSP00000443101:P664L	ENSP00000349595:P789L	P	+	2	0	ATP2A1	28821050	1.000000	0.71417	0.962000	0.40283	0.837000	0.47467	7.627000	0.83176	2.566000	0.86566	0.561000	0.74099	CCG		0.667	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	
CD19	930	broad.mit.edu	37	16	28944305	28944305	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:28944305C>T	ENST00000324662.3	+	3	473	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CD19_ENST00000538922.1_Silent_p.G143G|CD19_ENST00000567541.1_Silent_p.G143G			P15391	CD19_HUMAN	CD19 molecule	143					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.G143G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCTCAGAGGGCCCCAGCTCCC	0.617																																					p.G143G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	16						.						33.0	29.0	30.0					16																	28944305		2196	4300	6496	28851806	SO:0001819	synonymous_variant	930	exon3				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.429C>T	16.37:g.28944305C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28851806	NM_001178098	A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	CCDS10644.1																																																																																				0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
ASPHD1	253982	broad.mit.edu	37	16	29912582	29912582	+	Missense_Mutation	SNP	G	G	A	rs150342901		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:29912582G>A	ENST00000308748.5	+	1	542	c.290G>A	c.(289-291)cGc>cAc	p.R97H	SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	97					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)	p.R97H(1)		endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TACTGCTACCGCCTGGGCTCC	0.687																																					p.R97H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	16						.						50.0	56.0	54.0					16																	29912582		2194	4295	6489	29820083	SO:0001583	missense	253982	exon1			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.290G>A	16.37:g.29912582G>A	ENSP00000311447:p.Arg97His	Somatic		Capture	Illumina HiSeq	Phase_I	29820083	NM_181718	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628355	0.67015	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.54279	0.58;0.58	4.81	3.85	0.44370	.	0.000000	0.64402	D	0.000006	T	0.36054	0.0953	L	0.34521	1.04	0.45979	D	0.998792	B	0.33549	0.417	B	0.23716	0.048	T	0.16600	-1.0397	10	0.34782	T	0.22	-15.1095	10.4321	0.44413	0.0942:0.0:0.9058:0.0	.	97	Q5U4P2	ASPH1_HUMAN	H	97	ENSP00000388036:R97H;ENSP00000311447:R97H	ENSP00000311447:R97H	R	+	2	0	ASPHD1	29820083	1.000000	0.71417	0.976000	0.42696	0.766000	0.43426	4.161000	0.58170	1.151000	0.42436	0.462000	0.41574	CGC		0.687	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
ASPHD1	253982	broad.mit.edu	37	16	29913128	29913128	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:29913128G>A	ENST00000308748.5	+	1	1088	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	279					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)	p.R279Q(1)		endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						AGGGGGCTTCGAAGCTTTATG	0.687																																					p.R279Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G836A	16						.						21.0	21.0	21.0					16																	29913128		2177	4257	6434	29820629	SO:0001583	missense	253982	exon1			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.836G>A	16.37:g.29913128G>A	ENSP00000311447:p.Arg279Gln	Somatic		Capture	Illumina HiSeq	Phase_I	29820629	NM_181718	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471171	0.96274	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.41400	1.0;1.0	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000005	T	0.60663	0.2286	L	0.55213	1.73	0.53005	D	0.999965	D	0.89917	1.0	D	0.68765	0.96	T	0.54925	-0.8220	10	0.40728	T	0.16	-18.0733	18.9089	0.92474	0.0:0.0:1.0:0.0	.	279	Q5U4P2	ASPH1_HUMAN	Q	279	ENSP00000388036:R279Q;ENSP00000311447:R279Q	ENSP00000311447:R279Q	R	+	2	0	ASPHD1	29820629	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.073000	0.93992	2.763000	0.94921	0.563000	0.77884	CGA		0.687	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
TAOK2	9344	broad.mit.edu	37	16	29994886	29994886	+	Silent	SNP	G	G	A	rs61739161	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:29994886G>A	ENST00000308893.4	+	13	2366	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	TAOK2_ENST00000279394.3_Silent_p.P441P|TAOK2_ENST00000416441.2_Silent_p.P268P|TAOK2_ENST00000543033.1_Silent_p.P441P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	441					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.P441P(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCTCCAGCCGCCTGCAGCCC	0.632													G|||	7	0.00139776	0.0053	0.0	5008	,	,		14071	0.0		0.0	False		,,,				2504	0.0				p.P441P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1323A	16						.	G	,	10,4384	16.8+/-37.8	0,10,2187	174.0	219.0	204.0		1323,1323	-2.0	1.0	16	dbSNP_129	204	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TAOK2	NM_004783.2,NM_016151.2	,	0,10,6487	AA,AG,GG		0.0,0.2276,0.077	,	441/1050,441/1236	29994886	10,12984	2197	4300	6497	29902387	SO:0001819	synonymous_variant	9344	exon13			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1323G>A	16.37:g.29994886G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29902387	NM_004783	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																				0.632	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
HIRIP3	8479	broad.mit.edu	37	16	30005797	30005797	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30005797A>C	ENST00000279392.3	-	4	1499	c.669T>G	c.(667-669)agT>agG	p.S223R	INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron|HIRIP3_ENST00000566471.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	223	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.S223R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTGTTCACTTTCCTTCA	0.502																																					p.S223R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T669G	16						.						220.0	211.0	214.0					16																	30005797		2197	4300	6497	29913298	SO:0001583	missense	8479	exon4			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.669T>G	16.37:g.30005797A>C	ENSP00000279392:p.Ser223Arg	Somatic		Capture	Illumina HiSeq	Phase_I	29913298	NM_003609	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	A	6.087	0.384428	0.11524	.	.	ENSG00000149929	ENST00000279392	T	0.36340	1.26	4.65	2.25	0.28309	.	0.812488	0.11353	N	0.572783	T	0.22666	0.0547	L	0.32530	0.975	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.20907	-1.0261	10	0.38643	T	0.18	-0.4669	1.7234	0.02916	0.5612:0.1765:0.093:0.1693	.	223	Q9BW71	HIRP3_HUMAN	R	223	ENSP00000279392:S223R	ENSP00000279392:S223R	S	-	3	2	HIRIP3	29913298	0.000000	0.05858	0.012000	0.15200	0.020000	0.10135	-0.403000	0.07214	0.801000	0.34066	-0.389000	0.06534	AGT		0.502	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
THOC6	79228	broad.mit.edu	37	16	3076524	3076524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3076524C>T	ENST00000326266.8	+	7	715	c.419C>T	c.(418-420)tCc>tTc	p.S140F	HCFC1R1_ENST00000248089.3_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.S140F|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.S116F|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.S116F	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	140					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.S140F(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CAGGAGAATTCCCTCATCCTG	0.527																																					p.S140F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419T	16						.						80.0	75.0	77.0					16																	3076524		2198	4300	6498	3016525	SO:0001583	missense	79228	exon7			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.419C>T	16.37:g.3076524C>T	ENSP00000326531:p.Ser140Phe	Somatic		Capture	Illumina HiSeq	Phase_I	3016525	NM_024339	B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345910	0.41599	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.27720	1.65;1.65	5.7	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.229364	0.45867	D	0.000339	T	0.31295	0.0792	L	0.59436	1.845	0.46927	D	0.999256	P;P	0.51351	0.935;0.944	P;B	0.46543	0.52;0.416	T	0.11641	-1.0579	10	0.09843	T	0.71	0.7202	10.6798	0.45809	0.0:0.9122:0.0:0.0878	.	140;140	Q86W42-3;Q86W42	.;THOC6_HUMAN	F	140	ENSP00000326531:S140F;ENSP00000253952:S140F	ENSP00000253952:S140F	S	+	2	0	THOC6	3016525	0.990000	0.36364	0.913000	0.36048	0.787000	0.44495	2.685000	0.46959	1.424000	0.47217	0.561000	0.74099	TCC		0.527	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339	
MAPK3	5595	broad.mit.edu	37	16	30128513	30128513	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30128513A>G	ENST00000263025.4	-	6	953	c.869T>C	c.(868-870)gTg>gCg	p.V290A	MAPK3_ENST00000395200.1_Missense_Mutation_p.V222A|MAPK3_ENST00000403394.1_Missense_Mutation_p.V290A|MAPK3_ENST00000484663.1_Missense_Mutation_p.V176A|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Missense_Mutation_p.V290A	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.V290A(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	GGCCCAAGCCACCTTGGTCTT	0.557																																					p.V290A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T869C	16						.						125.0	116.0	119.0					16																	30128513		2197	4300	6497	30036014	SO:0001583	missense	5595	exon6			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.869T>C	16.37:g.30128513A>G	ENSP00000263025:p.Val290Ala	Somatic		Capture	Illumina HiSeq	Phase_I	30036014	NM_002746	A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.05|18.05	3.537925|3.537925	0.65085|0.65085	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199|ENST00000495629	T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;2.8;0.95|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.274165|.	0.36778|.	N|.	0.002420|.	T|T	0.53367|0.53367	0.1792|0.1792	N|N	0.25332|0.25332	0.735|0.735	0.51233|0.51233	D|D	0.999916|0.999916	B;B|.	0.20052|.	0.041;0.027|.	B;B|.	0.23852|.	0.02;0.049|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|5	0.15499|.	T|.	0.54|.	1.7513|1.7513	14.9339|14.9339	0.70938|0.70938	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	290;290|.	P27361-3;P27361|.	.;MK03_HUMAN|.	A|R	290;176;290;222;53;290|251	ENSP00000263025:V290A;ENSP00000432742:V176A;ENSP00000384895:V290A;ENSP00000378626:V222A;ENSP00000432292:V53A;ENSP00000378625:V290A|.	ENSP00000263025:V290A|.	V|W	-|-	2|1	0|0	MAPK3|MAPK3	30036014|30036014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.271000|9.271000	0.95698|0.95698	2.171000|2.171000	0.68590|0.68590	0.482000|0.482000	0.46254|0.46254	GTG|TGG		0.557	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2		
CD2BP2	10421	broad.mit.edu	37	16	30365603	30365603	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30365603C>T	ENST00000305596.3	-	3	294	c.119G>A	c.(118-120)cGc>cAc	p.R40H	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.R40H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	40					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.R40H(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GCCTTTAAAGCGGCTCCCAGG	0.527																																					p.R40H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	16						.						175.0	177.0	176.0					16																	30365603		2197	4300	6497	30273104	SO:0001583	missense	10421	exon3			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.119G>A	16.37:g.30365603C>T	ENSP00000304903:p.Arg40His	Somatic		Capture	Illumina HiSeq	Phase_I	30273104	NM_006110	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448770	0.84101	.	.	ENSG00000169217	ENST00000305596	T	0.33654	1.4	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	M	0.74467	2.265	0.58432	D	0.999998	D	0.89917	1.0	D	0.70227	0.968	T	0.64537	-0.6384	10	0.59425	D	0.04	-5.1167	16.9908	0.86353	0.0:1.0:0.0:0.0	.	40	O95400	CD2B2_HUMAN	H	40	ENSP00000304903:R40H	ENSP00000304903:R40H	R	-	2	0	CD2BP2	30273104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.393000	0.59665	2.380000	0.81148	0.467000	0.42956	CGC		0.527	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110	
IL32	9235	broad.mit.edu	37	16	3119040	3119040	+	Missense_Mutation	SNP	G	G	A	rs371449782		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3119040G>A	ENST00000534507.1	+	6	600	c.389G>A	c.(388-390)gGc>gAc	p.G130D	IL32_ENST00000548246.1_Missense_Mutation_p.G44D|IL32_ENST00000531965.1_Missense_Mutation_p.G74D|IL32_ENST00000552356.1_Missense_Mutation_p.G64D|IL32_ENST00000552664.1_Missense_Mutation_p.G84D|IL32_ENST00000551513.1_Missense_Mutation_p.G121D|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Missense_Mutation_p.G64D|IL32_ENST00000530890.1_Missense_Mutation_p.G64D|IL32_ENST00000525643.2_Missense_Mutation_p.G84D|IL32_ENST00000528163.2_Missense_Mutation_p.G84D|IL32_ENST00000325568.5_Missense_Mutation_p.G84D|IL32_ENST00000529699.1_Missense_Mutation_p.G64D|IL32_ENST00000382213.3_Missense_Mutation_p.G75D|IL32_ENST00000548652.1_Missense_Mutation_p.G75D|IL32_ENST00000529550.1_Missense_Mutation_p.G84D|IL32_ENST00000551122.1_Missense_Mutation_p.G84D|IL32_ENST00000526464.2_Missense_Mutation_p.G84D|IL32_ENST00000444393.3_Missense_Mutation_p.G84D|IL32_ENST00000533097.2_Missense_Mutation_p.G84D|IL32_ENST00000396887.3_Missense_Mutation_p.G84D|IL32_ENST00000396890.2_Missense_Mutation_p.G130D|IL32_ENST00000530538.2_Missense_Mutation_p.G84D|IL32_ENST00000440815.3_Missense_Mutation_p.G84D|IL32_ENST00000548476.1_Missense_Mutation_p.G130D|IL32_ENST00000552936.1_Missense_Mutation_p.G108D|IL32_ENST00000549213.1_Missense_Mutation_p.G84D			P24001	IL32_HUMAN	interleukin 32	130					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.G84D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGGTGCCGAGGCAACAGATCC	0.562																																					p.G84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	16						.	G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	2,4154		0,2,2076	8.0	11.0	10.0		251,251,251,191,191,224,251,251	-2.9	0.0	16		10	0,8408		0,0,4204	no	missense,missense,missense,missense,missense,missense,missense,missense	IL32	NM_001012631.1,NM_001012632.1,NM_001012633.1,NM_001012634.1,NM_001012635.1,NM_001012636.1,NM_001012718.1,NM_004221.4	94,94,94,94,94,94,94,94	0,2,6280	AA,AG,GG		0.0,0.0481,0.0159	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	84/189,84/189,84/132,64/169,64/169,75/180,84/189,84/189	3119040	2,12562	2078	4204	6282	3059041	SO:0001583	missense	9235	exon7			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.389G>A	16.37:g.3119040G>A	ENSP00000431775:p.Gly130Asp	Somatic		Capture	Illumina HiSeq	Phase_I	3059041	NM_004221	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37		.	.	.	.	.	.	.	.	.	.	G	10.62	1.400567	0.25291	4.81E-4	0.0	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73575	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;-0.76;-0.76;0.83;0.83;0.83;0.83;0.83;0.83;0.83;-0.76;0.83	1.63	-2.88	0.05682	.	.	.	.	.	T	0.68201	0.2975	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P;D	0.76494	0.871;0.871;0.871;0.871;0.871;0.871;0.999	B;B;B;B;B;B;D	0.74023	0.18;0.18;0.18;0.18;0.18;0.18;0.982	T	0.58418	-0.7640	9	0.62326	D	0.03	.	3.9152	0.09220	0.0:0.1781:0.5054:0.3165	.	44;64;75;64;130;84;84	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	D	84;130;74;84;64;84;84;84;84;84;130;84;64;84;84;64;130;55;75;84;84;108;130;84;64;121;75;44	ENSP00000324742:G84D;ENSP00000431775:G130D;ENSP00000433177:G74D;ENSP00000380096:G84D;ENSP00000436937:G64D;ENSP00000450364:G84D;ENSP00000405063:G84D;ENSP00000437020:G84D;ENSP00000447496:G84D;ENSP00000432218:G84D;ENSP00000448354:G130D;ENSP00000432850:G84D;ENSP00000433747:G64D;ENSP00000411958:G84D;ENSP00000432917:G84D;ENSP00000008180:G64D;ENSP00000380099:G130D;ENSP00000431740:G55D;ENSP00000446624:G75D;ENSP00000436929:G84D;ENSP00000447812:G84D;ENSP00000447033:G108D;ENSP00000449483:G130D;ENSP00000448683:G84D;ENSP00000446978:G64D;ENSP00000449147:G121D;ENSP00000371648:G75D;ENSP00000447979:G44D	ENSP00000008180:G64D	G	+	2	0	IL32	3059041	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.143000	0.03200	-0.780000	0.04553	-0.461000	0.05368	GGC		0.562	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221	
ITGAL	3683	broad.mit.edu	37	16	30532879	30532879	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30532879C>A	ENST00000356798.6	+	31	3586	c.3406C>A	c.(3406-3408)Cct>Act	p.P1136T	ITGAL_ENST00000433423.2_Missense_Mutation_p.P370T|ITGAL_ENST00000358164.5_Missense_Mutation_p.P1052T	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1136					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)	p.P1136T(1)		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)	GAATGGAATCCCTGCAGAAGA	0.532																																					p.P1052T	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3154A	16						.						72.0	77.0	75.0					16																	30532879		2197	4300	6497	30440380	SO:0001583	missense	3683	exon29				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.3406C>A	16.37:g.30532879C>A	ENSP00000349252:p.Pro1136Thr	Somatic		Capture	Illumina HiSeq	Phase_I	30440380	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966289	0.34659	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.58358	0.34;0.69;1.78	4.94	-0.97	0.10306	.	0.253986	0.28409	N	0.015459	T	0.47581	0.1453	N	0.24115	0.695	0.09310	N	0.999999	D;P;P	0.89917	1.0;0.666;0.496	D;B;B	0.87578	0.998;0.288;0.178	T	0.30357	-0.9981	10	0.42905	T	0.14	.	2.6003	0.04865	0.2979:0.3203:0.2912:0.0907	.	370;1052;1136	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	T	1136;1052;370	ENSP00000349252:P1136T;ENSP00000350886:P1052T;ENSP00000409377:P370T	ENSP00000349252:P1136T	P	+	1	0	ITGAL	30440380	0.000000	0.05858	0.010000	0.14722	0.025000	0.11179	-0.161000	0.10026	0.211000	0.20683	-0.266000	0.10368	CCT		0.532	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
SRCAP	10847	broad.mit.edu	37	16	30735527	30735527	+	Missense_Mutation	SNP	G	G	T	rs9652695		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30735527G>T	ENST00000262518.4	+	25	5167	c.4782G>T	c.(4780-4782)caG>caT	p.Q1594H	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q1532H|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q1436H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1594	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q1594H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGGCTCCACAGACAGCAATTC	0.602																																					p.Q1594H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4782T	16						.						76.0	75.0	75.0					16																	30735527		2197	4300	6497	30643028	SO:0001583	missense	10847	exon25			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4782G>T	16.37:g.30735527G>T	ENSP00000262518:p.Gln1594His	Somatic		Capture	Illumina HiSeq	Phase_I	30643028	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	5.689	0.311747	0.10789	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91124	-2.77;-2.79;-2.76	5.03	1.42	0.22433	.	0.152719	0.31031	N	0.008384	T	0.79540	0.4463	N	0.19112	0.55	0.19945	N	0.999946	B;B;B	0.13145	0.002;0.007;0.004	B;B;B	0.11329	0.006;0.006;0.003	T	0.68788	-0.5316	10	0.66056	D	0.02	-0.828	3.537	0.07798	0.3898:0.1941:0.4161:0.0	.	1436;1532;1594	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	H	1594;1532;1436	ENSP00000262518:Q1594H;ENSP00000378499:Q1532H;ENSP00000343042:Q1436H	ENSP00000262518:Q1594H	Q	+	3	2	SRCAP	30643028	0.990000	0.36364	1.000000	0.80357	0.908000	0.53690	0.570000	0.23653	0.523000	0.28482	0.460000	0.39030	CAG		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SRCAP	10847	broad.mit.edu	37	16	30747712	30747712	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30747712A>G	ENST00000262518.4	+	32	7306	c.6921A>G	c.(6919-6921)gaA>gaG	p.E2307E	SRCAP_ENST00000395059.2_Silent_p.E2245E|SRCAP_ENST00000344771.4_Silent_p.E2149E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2307	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.E2307E(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCTCGTAGAACAGGTCAGTG	0.572																																					p.E2307E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6921G	16						.						61.0	53.0	56.0					16																	30747712		2197	4300	6497	30655213	SO:0001819	synonymous_variant	10847	exon32			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6921A>G	16.37:g.30747712A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30655213	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
PHKG2	5261	broad.mit.edu	37	16	30762542	30762542	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30762542C>T	ENST00000563588.1	+	3	450	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	PHKG2_ENST00000328273.7_Missense_Mutation_p.R71W|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R71W	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R71W(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			GGAGGAGGTGCGGGAAGCCAC	0.612																																					p.R71W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	16						.						83.0	75.0	77.0					16																	30762542		2197	4300	6497	30670043	SO:0001583	missense	5261	exon3			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.211C>T	16.37:g.30762542C>T	ENSP00000455607:p.Arg71Trp	Somatic		Capture	Illumina HiSeq	Phase_I	30670043	NM_001172432	A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104142	0.76983	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.68624	-0.34;-0.34	4.85	3.9	0.45041	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	0.37857	N	0.001919	T	0.79713	0.4493	M	0.75884	2.315	0.54753	D	0.999987	P;D;D	0.89917	0.67;1.0;1.0	B;D;D	0.77557	0.165;0.99;0.977	T	0.81747	-0.0791	10	0.72032	D	0.01	-13.1448	12.1789	0.54202	0.0:0.9163:0.0:0.0837	.	63;71;71	Q16221;P15735;P15735-2	.;PHKG2_HUMAN;.	W	71	ENSP00000329968:R71W;ENSP00000388571:R71W	ENSP00000329968:R71W	R	+	1	2	PHKG2	30670043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.516000	0.53436	1.269000	0.44280	-0.140000	0.14226	CGG		0.612	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	
RNF40	9810	broad.mit.edu	37	16	30774565	30774565	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30774565G>T	ENST00000324685.6	+	3	694	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.D87Y|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.D87Y	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	87					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D87Y(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCAGGCCACAGATGATGCCAC	0.527																																					p.D87Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259T	16						.						78.0	80.0	79.0					16																	30774565		2197	4300	6497	30682066	SO:0001583	missense	9810	exon3			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.259G>T	16.37:g.30774565G>T	ENSP00000325677:p.Asp87Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30682066	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997754	0.93227	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.36520	1.28;1.25	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.71573	-0.4552	10	0.87932	D	0	-27.4022	18.1775	0.89766	0.0:0.0:1.0:0.0	.	87;87;87	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	Y	87	ENSP00000325677:D87Y;ENSP00000350563:D87Y	ENSP00000325677:D87Y	D	+	1	0	RNF40	30682066	1.000000	0.71417	0.969000	0.41365	0.998000	0.95712	7.837000	0.86796	2.580000	0.87095	0.563000	0.77884	GAT		0.527	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
RNF40	9810	broad.mit.edu	37	16	30776588	30776588	+	Silent	SNP	C	C	T	rs146962748		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:30776588C>T	ENST00000324685.6	+	7	1293	c.858C>T	c.(856-858)atC>atT	p.I286I	RNF40_ENST00000357890.5_Silent_p.I286I|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Silent_p.I286I	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	286					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I286I(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGTGGGACATCGAGAAGCTGC	0.582																																					p.I286I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858T	16						.	C	,,	0,4394		0,0,2197	106.0	104.0	105.0		858,858,858	-8.7	0.9	16	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RNF40	NM_001207033.1,NM_001207034.1,NM_014771.3	,,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,	286/1001,286/902,286/1002	30776588	1,12993	2197	4300	6497	30684089	SO:0001819	synonymous_variant	9810	exon7			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.858C>T	16.37:g.30776588C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30684089	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	CCDS10691.1																																																																																				0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
PRSS8	5652	broad.mit.edu	37	16	31143521	31143521	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31143521T>C	ENST00000317508.6	-	6	1104	c.841A>G	c.(841-843)Atc>Gtc	p.I281V	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Missense_Mutation_p.I227V	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	281	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I281V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TTGCTTTGGATCCAGGAGGCA	0.627																																					p.I281V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A841G	16						.						49.0	56.0	54.0					16																	31143521		2075	4219	6294	31051022	SO:0001583	missense	5652	exon6			U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.841A>G	16.37:g.31143521T>C	ENSP00000319730:p.Ile281Val	Somatic		Capture	Illumina HiSeq	Phase_I	31051022	NM_002773	B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833961	0.71373	.	.	ENSG00000052344	ENST00000317508	D	0.97710	-4.5	5.34	5.34	0.76211	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000028	D	0.98359	0.9455	M	0.69823	2.125	0.80722	D	1	D;D	0.58970	0.984;0.984	D;D	0.75020	0.985;0.985	D	0.99441	1.0938	10	0.72032	D	0.01	.	14.2889	0.66263	0.0:0.0:0.0:1.0	.	227;281	B4DWP2;Q16651	.;PRSS8_HUMAN	V	281	ENSP00000319730:I281V	ENSP00000319730:I281V	I	-	1	0	PRSS8	31051022	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	6.813000	0.75231	2.023000	0.59567	0.459000	0.35465	ATC		0.627	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773	
ZNF205	7755	broad.mit.edu	37	16	3169811	3169811	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3169811C>T	ENST00000382192.3	+	7	1355	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R384C|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	384					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R384C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TCAGCACCAGCGCATCCACAC	0.667																																					p.R384C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1150T	16						.						65.0	69.0	68.0					16																	3169811		2197	4300	6497	3109812	SO:0001583	missense	7755	exon7			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1150C>T	16.37:g.3169811C>T	ENSP00000371627:p.Arg384Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3109812	NM_001042428	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938683	0.52972	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.25749	1.78;1.78	5.42	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000200	T	0.47948	0.1473	M	0.74546	2.27	0.43708	D	0.996173	D	0.89917	1.0	D	0.85130	0.997	T	0.50668	-0.8801	10	0.87932	D	0	-36.349	11.3865	0.49789	0.3324:0.6676:0.0:0.0	.	384	O95201	ZN205_HUMAN	C	384	ENSP00000371627:R384C;ENSP00000219091:R384C	ENSP00000219091:R384C	R	+	1	0	ZNF205	3109812	0.001000	0.12720	1.000000	0.80357	0.819000	0.46315	-0.054000	0.11826	2.544000	0.85801	0.561000	0.74099	CGC		0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456	
PRSS36	146547	broad.mit.edu	37	16	31150545	31150545	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31150545G>T	ENST00000268281.4	-	15	2540	c.2482C>A	c.(2482-2484)Ctc>Atc	p.L828I	PRSS36_ENST00000569305.1_Missense_Mutation_p.L823I|PRSS36_ENST00000418068.2_Missense_Mutation_p.L725I	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	828						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.L828I(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGGGGCAGAGATTGCTGCCT	0.637																																					p.L828I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2482A	16						.						36.0	39.0	38.0					16																	31150545		2197	4300	6497	31058046	SO:0001583	missense	146547	exon15			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2482C>A	16.37:g.31150545G>T	ENSP00000268281:p.Leu828Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31058046	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555291	0.27739	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.91295	-2.68;-2.82	5.68	4.72	0.59763	.	.	.	.	.	D	0.89525	0.6740	N	0.24115	0.695	0.19575	N	0.999963	D;P;P	0.63880	0.993;0.791;0.791	D;B;B	0.63381	0.914;0.142;0.142	T	0.80120	-0.1515	9	0.22109	T	0.4	.	10.4894	0.44741	0.0896:0.0:0.9104:0.0	.	725;823;828	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	I	828;725	ENSP00000268281:L828I;ENSP00000407160:L725I	ENSP00000268281:L828I	L	-	1	0	PRSS36	31058046	0.867000	0.29959	0.790000	0.31976	0.067000	0.16453	1.966000	0.40481	1.388000	0.46506	0.561000	0.74099	CTC		0.637	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
ZNF267	10308	broad.mit.edu	37	16	31895893	31895893	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31895893G>T	ENST00000300870.10	+	2	287	c.78G>T	c.(76-78)aaG>aaT	p.K26N	ZNF267_ENST00000394846.3_Missense_Mutation_p.K26N	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|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)	p.K26N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAGCTCAGAAGAATTTGTATC	0.398																																					p.K26N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	16						.						101.0	105.0	104.0					16																	31895893		2197	4300	6497	31803394	SO:0001583	missense	10308	exon2			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.78G>T	16.37:g.31895893G>T	ENSP00000300870:p.Lys26Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31803394	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.564210	0.27915	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T;T	0.02944	4.1;4.1	0.766	-0.395	0.12431	Krueppel-associated box (4);	.	.	.	.	T	0.06050	0.0157	M	0.86502	2.82	0.09310	N	1	P	0.49961	0.93	B	0.41917	0.37	T	0.19063	-1.0317	9	0.87932	D	0	.	6.2663	0.20928	0.0:0.3167:0.6833:0.0	.	26	Q14586	ZN267_HUMAN	N	26	ENSP00000300870:K26N;ENSP00000461286:K26N	ENSP00000300870:K26N	K	+	3	2	ZNF267	31803394	0.070000	0.21116	0.007000	0.13788	0.009000	0.06853	0.126000	0.15769	-0.136000	0.11475	-0.305000	0.09177	AAG		0.398	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
ZNF267	10308	broad.mit.edu	37	16	31925974	31925974	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31925974A>C	ENST00000300870.10	+	4	613	c.404A>C	c.(403-405)aAa>aCa	p.K135T	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	135					multicellular organismal development (GO:0007275)|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)	p.K135T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGACTTTTAAATATGATCAA	0.353																																					p.K135T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A404C	16						.						109.0	110.0	110.0					16																	31925974		2197	4300	6497	31833475	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.404A>C	16.37:g.31925974A>C	ENSP00000300870:p.Lys135Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31833475	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	2.632	-0.286093	0.05605	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06608	3.28	0.458	0.458	0.16670	.	.	.	.	.	T	0.02848	0.0085	N	0.17345	0.48	0.09310	N	1	B	0.31931	0.347	B	0.15484	0.013	T	0.43196	-0.9406	9	0.34782	T	0.22	.	2.5375	0.04717	0.552:1.0E-4:0.0:0.4479	.	135	Q14586	ZN267_HUMAN	T	135;102	ENSP00000300870:K135T	ENSP00000300870:K135T	K	+	2	0	ZNF267	31833475	0.302000	0.24454	0.085000	0.20634	0.076000	0.17211	0.630000	0.24553	0.407000	0.25591	0.397000	0.26171	AAA		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
ZNF267	10308	broad.mit.edu	37	16	31926209	31926209	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31926209G>T	ENST00000300870.10	+	4	848	c.639G>T	c.(637-639)gaG>gaT	p.E213D		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	213					multicellular organismal development (GO:0007275)|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)	p.E213D(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTATTGGAGAGAAAAATTATC	0.284																																					p.E213D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G639T	16						.						29.0	31.0	31.0					16																	31926209		2195	4289	6484	31833710	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.639G>T	16.37:g.31926209G>T	ENSP00000300870:p.Glu213Asp	Somatic		Capture	Illumina HiSeq	Phase_I	31833710	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	9.465	1.094191	0.20471	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.19806	2.12	0.458	0.458	0.16670	.	.	.	.	.	T	0.37679	0.1012	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.22452	-1.0216	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	213	Q14586	ZN267_HUMAN	D	213;180	ENSP00000300870:E213D	ENSP00000300870:E213D	E	+	3	2	ZNF267	31833710	0.358000	0.24947	0.029000	0.17559	0.027000	0.11550	0.409000	0.21082	0.482000	0.27582	0.484000	0.47621	GAG		0.284	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
ZNF267	10308	broad.mit.edu	37	16	31926513	31926513	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31926513A>C	ENST00000300870.10	+	4	1152	c.943A>C	c.(943-945)Atc>Ctc	p.I315L		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	315					multicellular organismal development (GO:0007275)|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)	p.I315L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCAGATAATCCATAATGA	0.333																																					p.I315L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A943C	16						.						80.0	83.0	82.0					16																	31926513		2197	4300	6497	31834014	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.943A>C	16.37:g.31926513A>C	ENSP00000300870:p.Ile315Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31834014	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	6.868	0.529428	0.13127	.	.	ENSG00000185947	ENST00000300870	T	0.16196	2.36	0.458	-0.916	0.10489	.	.	.	.	.	T	0.12008	0.0292	L	0.52126	1.63	0.45733	D	0.998632	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	9	0.41790	T	0.15	.	1.7035	0.02877	0.3736:0.3131:0.0:0.3133	.	315	Q14586	ZN267_HUMAN	L	315	ENSP00000300870:I315L	ENSP00000300870:I315L	I	+	1	0	ZNF267	31834014	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.716000	0.25836	-0.675000	0.05246	-0.707000	0.03653	ATC		0.333	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
ZNF267	10308	broad.mit.edu	37	16	31926853	31926853	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31926853G>A	ENST00000300870.10	+	4	1492	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	428					multicellular organismal development (GO:0007275)|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)	p.R428Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAACATAAGCGAATTCATACT	0.368																																					p.R428Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283A	16						.						46.0	52.0	50.0					16																	31926853		2197	4299	6496	31834354	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1283G>A	16.37:g.31926853G>A	ENSP00000300870:p.Arg428Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31834354	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687505	0.48097	.	.	ENSG00000185947	ENST00000300870	T	0.02369	4.32	0.458	-0.616	0.11583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	L	0.37507	1.11	0.80722	D	1	D	0.56035	0.974	B	0.30251	0.113	T	0.61618	-0.7026	9	0.72032	D	0.01	.	4.5985	0.12341	0.3008:0.0:0.6992:0.0	.	428	Q14586	ZN267_HUMAN	Q	428	ENSP00000300870:R428Q	ENSP00000300870:R428Q	R	+	2	0	ZNF267	31834354	0.000000	0.05858	0.322000	0.25334	0.296000	0.27459	0.483000	0.22292	-0.354000	0.08212	-0.350000	0.07774	CGA		0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
AXIN1	8312	broad.mit.edu	37	16	396834	396834	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:396834C>T	ENST00000262320.3	-	2	563	c.192G>A	c.(190-192)tcG>tcA	p.S64S	AXIN1_ENST00000354866.3_Silent_p.S64S|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	64					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.S64S(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGTCCAGATCCGAGCGCCTCG	0.597											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S64S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G192A	16						.						36.0	34.0	35.0					16																	396834		2203	4300	6503	336835	SO:0001819	synonymous_variant	8312	exon2			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.192G>A	16.37:g.396834C>T		Somatic	588	Capture	Illumina HiSeq	Phase_I	336835	NM_003502	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																				0.597	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
MEFV	4210	broad.mit.edu	37	16	3297166	3297166	+	Missense_Mutation	SNP	G	G	T	rs104895083		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3297166G>T	ENST00000219596.1	-	5	1476	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	MEFV_ENST00000339854.4_Missense_Mutation_p.F299L|MEFV_ENST00000541159.1_Missense_Mutation_p.F268L|MEFV_ENST00000536379.1_Missense_Mutation_p.F268L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	479	Required for homotrimerization and induction of pyroptosomes.		F -> L (in arFMF). {ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:16378925}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.F479L(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGGCCACAAAGAAATGCTCTT	0.582																																					p.F479L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1437A	16	GRCh37	CM981243	MEFV	M	rs104895083	.						171.0	157.0	162.0					16																	3297166		2197	4300	6497	3237167	SO:0001583	missense	4210	exon5			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1437C>A	16.37:g.3297166G>T	ENSP00000219596:p.Phe479Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3237167	NM_000243	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.779674	0.00634	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.61040	0.14;0.54;0.46;0.53	5.29	-0.143	0.13444	.	0.850571	0.10041	N	0.723490	T	0.16041	0.0386	N	0.00500	-1.43	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.685	2.3277	0.04227	0.2293:0.1399:0.5035:0.1272	.	479	O15553	MEFV_HUMAN	L	479;479;299;268;268;268	ENSP00000219596:F479L;ENSP00000339639:F299L;ENSP00000438711:F268L;ENSP00000445079:F268L	ENSP00000219596:F479L	F	-	3	2	MEFV	3237167	0.365000	0.25006	0.221000	0.23827	0.006000	0.05464	0.124000	0.15728	-0.112000	0.11979	-0.880000	0.02959	TTC		0.582	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
NLRC3	197358	broad.mit.edu	37	16	3606964	3606964	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3606964C>T	ENST00000301749.7	-	0	2536				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A758T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCGCCTTGGCCCCTTGTGGT	0.577																																					p.A711T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2131A	16						.						73.0	81.0	79.0					16																	3606964		1955	4149	6104	3546965			197358	exon8			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3606964C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3546965	NM_178844	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	c	19.80	3.894582	0.72639	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.68331	-0.32;-0.32;-0.32	5.17	3.18	0.36537	.	0.136685	0.47852	D	0.000207	T	0.70343	0.3213	.	.	.	0.24366	N	0.994855	P	0.51653	0.947	P	0.52758	0.708	T	0.63152	-0.6701	9	0.45353	T	0.12	.	12.2536	0.54611	0.3095:0.6905:0.0:0.0	.	758	C9JLH9	.	T	711;711;711;758	ENSP00000301749:A711T;ENSP00000352039:A711T;ENSP00000414415:A758T	ENSP00000301749:A711T	A	-	1	0	NLRC3	3546965	0.999000	0.42202	1.000000	0.80357	0.838000	0.47535	4.106000	0.57804	0.569000	0.29329	-0.132000	0.14878	GCC		0.577	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844	
SLX4	84464	broad.mit.edu	37	16	3640648	3640648	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3640648C>T	ENST00000294008.3	-	12	3631	c.2991G>A	c.(2989-2991)ccG>ccA	p.P997P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	997	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.P997P(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTATTTGGGACGGCTCTGAGA	0.567								Direct reversal of damage																													p.P997P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2991A	16						.						74.0	74.0	74.0					16																	3640648		2197	4300	6497	3580649	SO:0001819	synonymous_variant	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2991G>A	16.37:g.3640648C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3580649	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SLX4	84464	broad.mit.edu	37	16	3641200	3641200	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3641200C>A	ENST00000294008.3	-	12	3079	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	813	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.E813D(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTGGAAATTCTCGGCCCTGC	0.507								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.E813D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2439T	16						.						147.0	157.0	153.0					16																	3641200		2197	4300	6497	3581201	SO:0001583	missense	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2439G>T	16.37:g.3641200C>A	ENSP00000294008:p.Glu813Asp	Somatic	612	Capture	Illumina HiSeq	Phase_I	3581201	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841284	0.51057	.	.	ENSG00000188827	ENST00000294008	T	0.01397	4.94	5.57	0.857	0.19025	.	0.072399	0.56097	N	0.000027	T	0.01421	0.0046	L	0.49126	1.545	0.21386	N	0.999708	P	0.51537	0.946	B	0.38655	0.278	T	0.52245	-0.8601	10	0.56958	D	0.05	.	5.6144	0.17423	0.0:0.484:0.2842:0.2317	.	813	Q8IY92	SLX4_HUMAN	D	813	ENSP00000294008:E813D	ENSP00000294008:E813D	E	-	3	2	SLX4	3581201	0.937000	0.31787	0.603000	0.28903	0.508000	0.34012	0.065000	0.14466	0.688000	0.31529	0.561000	0.74099	GAG		0.507	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
CREBBP	1387	broad.mit.edu	37	16	3781827	3781827	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3781827A>G	ENST00000262367.5	-	29	5649	c.4840T>C	c.(4840-4842)Tcc>Ccc	p.S1614P	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1576P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1614	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1614P(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTCATTGGACACGTTGGGC	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.S1576P			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4726C	16						.						456.0	365.0	396.0					16																	3781827		2197	4300	6497	3721828	SO:0001583	missense	1387	exon28			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4840T>C	16.37:g.3781827A>G	ENSP00000262367:p.Ser1614Pro	Somatic		Capture	Illumina HiSeq	Phase_I	3721828	NM_001079846	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	14.16	2.452580	0.43531	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93659	-3.26;-3.26	5.61	4.5	0.54988	.	0.075780	0.56097	D	0.000023	D	0.93128	0.7812	M	0.69358	2.11	0.42447	D	0.992739	P;P	0.41748	0.761;0.761	P;P	0.45377	0.478;0.478	D	0.92116	0.5700	10	0.52906	T	0.07	-17.123	12.7853	0.57500	0.863:0.137:0.0:0.0	.	1644;1614	Q4LE28;Q92793	.;CBP_HUMAN	P	1614;1644;1576	ENSP00000262367:S1614P;ENSP00000371502:S1576P	ENSP00000262367:S1614P	S	-	1	0	CREBBP	3721828	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.729000	0.68538	0.937000	0.37394	0.459000	0.35465	TCC		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3789693	3789693	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3789693A>G	ENST00000262367.5	-	25	4975	c.4166T>C	c.(4165-4167)tTc>tCc	p.F1389S	CREBBP_ENST00000382070.3_Missense_Mutation_p.F1351S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1389	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F1389S(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGATATGGGAAAGATTCAGA	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.F1351S			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4052C	16						.						77.0	72.0	74.0					16																	3789693		2197	4300	6497	3729694	SO:0001583	missense	1387	exon24			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4166T>C	16.37:g.3789693A>G	ENSP00000262367:p.Phe1389Ser	Somatic		Capture	Illumina HiSeq	Phase_I	3729694	NM_001079846	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.196288	0.78902	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93366	-3.21;-3.21	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98829	1.0750	10	0.87932	D	0	-18.5394	15.969	0.79998	1.0:0.0:0.0:0.0	.	1419;1389	Q4LE28;Q92793	.;CBP_HUMAN	S	1389;1419;1351	ENSP00000262367:F1389S;ENSP00000371502:F1351S	ENSP00000262367:F1389S	F	-	2	0	CREBBP	3729694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.234000	0.73211	0.459000	0.35465	TTC		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3900826	3900826	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3900826G>A	ENST00000262367.5	-	2	1079	c.270C>T	c.(268-270)agC>agT	p.S90S	CREBBP_ENST00000382070.3_Silent_p.S90S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	90					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S90S(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCTGCTGGCGCTCACATTTC	0.582			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.S90S			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	16						.						54.0	53.0	53.0					16																	3900826		2197	4300	6497	3840827	SO:0001819	synonymous_variant	1387	exon2			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.270C>T	16.37:g.3900826G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3840827	NM_001079846	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.582	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF267	10308	broad.mit.edu	37	16	31927525	31927525	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31927525G>T	ENST00000300870.10	+	4	2164	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	652					multicellular organismal development (GO:0007275)|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)	p.R652I(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACACATCAGAGAAGTCATACT	0.443																																					p.R652I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1955T	16						.						81.0	80.0	80.0					16																	31927525		2197	4300	6497	31835026	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1955G>T	16.37:g.31927525G>T	ENSP00000300870:p.Arg652Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31835026	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	7.761	0.705473	0.15172	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	M	0.72894	2.215	0.80722	D	1	D	0.52996	0.957	B	0.42062	0.374	T	0.53121	-0.8483	9	0.42905	T	0.14	.	2.8196	0.05467	0.3837:0.0:0.6163:0.0	.	652	Q14586	ZN267_HUMAN	I	652	ENSP00000300870:R652I	ENSP00000300870:R652I	R	+	2	0	ZNF267	31835026	0.000000	0.05858	0.387000	0.26183	0.356000	0.29392	-0.105000	0.10907	0.488000	0.27723	0.491000	0.48974	AGA		0.443	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
VPS35	55737	broad.mit.edu	37	16	46702864	46702864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:46702864C>T	ENST00000299138.7	-	13	1683	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	542					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.R542Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTTTATATCGAAAAGCCAG	0.373																																					p.R542Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1625A	16						.						83.0	91.0	88.0					16																	46702864		2203	4300	6503	45260365	SO:0001583	missense	55737	exon13			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1625G>A	16.37:g.46702864C>T	ENSP00000299138:p.Arg542Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45260365	NM_018206	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946974	0.73672	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.49432	0.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.31526	0.94	0.80722	D	1	B;B	0.31054	0.293;0.306	B;B	0.17433	0.014;0.018	T	0.11012	-1.0605	10	0.22706	T	0.39	-10.217	19.5023	0.95100	0.0:1.0:0.0:0.0	.	542;407	Q96QK1;F5GYF5	VPS35_HUMAN;.	Q	542;407	ENSP00000299138:R542Q	ENSP00000299138:R542Q	R	-	2	0	VPS35	45260365	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.097000	0.71452	2.605000	0.88082	0.591000	0.81541	CGA		0.373	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3		
C16orf87	388272	broad.mit.edu	37	16	46836905	46836905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:46836905C>A	ENST00000285697.4	-	4	685	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	C16orf87_ENST00000564250.1_5'Flank|C16orf87_ENST00000394806.2_Nonsense_Mutation_p.E81*	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	142								p.E142*(1)		large_intestine(4)|urinary_tract(1)	5						CTATTTATTTCTGCCAAGGCG	0.343																																					p.E142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G424T	16						.						75.0	74.0	74.0					16																	46836905		2202	4300	6502	45394406	SO:0001587	stop_gained	388272	exon4				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.424G>T	16.37:g.46836905C>A	ENSP00000285697:p.Glu142*	Somatic		Capture	Illumina HiSeq	Phase_I	45394406	NM_001001436	Q63HN9	Nonsense_Mutation	SNP	ENST00000285697.4	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890922	0.52014	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	.	.	.	X	142;81	.	ENSP00000285697:E142X	E	-	1	0	C16orf87	45394406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.248000	0.78268	2.740000	0.93945	0.650000	0.86243	GAA		0.343	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	
PHKB	5257	broad.mit.edu	37	16	47531325	47531325	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:47531325C>A	ENST00000323584.5	+	2	116	c.92C>A	c.(91-93)cCt>cAt	p.P31H	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.P31H|PHKB_ENST00000566044.1_Missense_Mutation_p.P24H|PHKB_ENST00000455779.1_Missense_Mutation_p.P24H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	31					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.P31H(2)|p.P24H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTTATGAACCTCTTAAAAGC	0.323																																					p.P24H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C71A	16						.						61.0	62.0	62.0					16																	47531325		2201	4300	6501	46088826	SO:0001583	missense	5257	exon3				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.92C>A	16.37:g.47531325C>A	ENSP00000313504:p.Pro31His	Somatic		Capture	Illumina HiSeq	Phase_I	46088826	NM_001031835	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529882	0.85706	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90788	-2.71;-2.73	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.91635	0.997;0.887;0.999	D	0.92799	0.6255	10	0.66056	D	0.02	-21.3478	20.2704	0.98474	0.0:1.0:0.0:0.0	.	24;31;24	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	H	24;24;31	ENSP00000414345:P24H;ENSP00000313504:P31H	ENSP00000299167:P24H	P	+	2	0	PHKB	46088826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.339000	0.72969	2.793000	0.96121	0.591000	0.81541	CCT		0.323	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
PHKB	5257	broad.mit.edu	37	16	47699855	47699855	+	Intron	SNP	C	C	T	rs1131063		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:47699855C>T	ENST00000323584.5	+	25	2451				PHKB_ENST00000299167.8_Missense_Mutation_p.S780L|PHKB_ENST00000566044.1_Missense_Mutation_p.S773L|PHKB_ENST00000455779.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.S773L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCCCCCAGGTCGGTTGTACGC	0.463																																					p.S773L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2318T	16						.	C	,LEU/SER	0,3816		0,0,1908	76.0	76.0	76.0		,2318	5.2	1.0	16	dbSNP_123	76	3,8227		0,3,4112	yes	intron,missense	PHKB	NM_000293.2,NM_001031835.2	,145	0,3,6020	TT,TC,CC		0.0365,0.0,0.0249	,	,773/1087	47699855	3,12043	1908	4115	6023	46257356	SO:0001627	intron_variant	5257	exon26				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2427+969C>T	16.37:g.47699855C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46257356	NM_001031835	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251422	0.39797	0.0	3.65E-4	ENSG00000102893	ENST00000299167	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.65585	0.2705	L	0.33753	1.03	0.80722	D	1	D;B	0.89917	1.0;0.002	D;B	0.87578	0.998;0.002	T	0.57236	-0.7846	8	0.11182	T	0.66	.	19.125	0.93378	0.0:1.0:0.0:0.0	rs17413450	21;773	B3KVX5;Q93100-4	.;.	L	773	.	ENSP00000299167:S773L	S	+	2	0	PHKB	46257356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.826000	0.69293	2.572000	0.86782	0.650000	0.86243	TCG		0.463	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
ABCC12	94160	broad.mit.edu	37	16	48117960	48117960	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:48117960C>T	ENST00000311303.3	-	28	4198	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1285	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1285T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCATAGAGGCGGTGGCTTCA	0.502																																					p.A1285T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3853A	16						.						106.0	108.0	107.0					16																	48117960		2201	4300	6501	46675461	SO:0001583	missense	94160	exon28			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3853G>A	16.37:g.48117960C>T	ENSP00000311030:p.Ala1285Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46675461	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471269	0.96274	.	.	ENSG00000140798	ENST00000311303	D	0.91295	-2.82	5.31	5.31	0.75309	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.95672	0.8724	10	0.87932	D	0	.	17.7464	0.88422	0.0:1.0:0.0:0.0	.	1285	Q96J65	MRP9_HUMAN	T	1285	ENSP00000311030:A1285T	ENSP00000311030:A1285T	A	-	1	0	ABCC12	46675461	0.992000	0.36948	0.998000	0.56505	0.978000	0.69477	3.066000	0.50002	2.451000	0.82905	0.514000	0.50259	GCC		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC12	94160	broad.mit.edu	37	16	48145383	48145383	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:48145383C>A	ENST00000311303.3	-	16	2590	c.2245G>T	c.(2245-2247)Gaa>Taa	p.E749*	ABCC12_ENST00000448542.1_Nonsense_Mutation_p.E746*|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	749						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E749*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTTTCAGATTCTTTTCCTTCA	0.418																																					p.E749X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2245T	16						.						229.0	208.0	215.0					16																	48145383		2201	4300	6501	46702884	SO:0001587	stop_gained	94160	exon16			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2245G>T	16.37:g.48145383C>A	ENSP00000311030:p.Glu749*	Somatic		Capture	Illumina HiSeq	Phase_I	46702884	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501707	0.85176	.	.	ENSG00000140798	ENST00000311303;ENST00000448542	.	.	.	5.2	5.2	0.72013	.	0.577477	0.17818	N	0.160977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.229	0.65879	0.0:1.0:0.0:0.0	.	.	.	.	X	749;746	.	ENSP00000311030:E749X	E	-	1	0	ABCC12	46702884	1.000000	0.71417	0.919000	0.36401	0.317000	0.28152	4.102000	0.57776	2.427000	0.82271	0.491000	0.48974	GAA		0.418	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC12	94160	broad.mit.edu	37	16	48174664	48174664	+	Silent	SNP	C	C	T	rs199827231	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:48174664C>T	ENST00000311303.3	-	4	936	c.591G>A	c.(589-591)gcG>gcA	p.A197A	ABCC12_ENST00000448542.1_Silent_p.A197A|ABCC12_ENST00000416054.1_Silent_p.A197A	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	197	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A197A(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGTGGAGAGCGCCACCTTCA	0.507																																					p.A197A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G591A	16						.	T		1,4401	2.1+/-5.4	0,1,2200	106.0	110.0	109.0		591	-5.0	0.0	16		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC12	NM_033226.2		0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154		197/1360	48174664	2,13000	2201	4300	6501	46732165	SO:0001819	synonymous_variant	94160	exon4			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.591G>A	16.37:g.48174664C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46732165	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																				0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
UBN1	29855	broad.mit.edu	37	16	4908611	4908611	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:4908611G>A	ENST00000396658.4	+	3	1082	c.379G>A	c.(379-381)Gat>Aat	p.D127N	UBN1_ENST00000262376.6_Missense_Mutation_p.D127N|UBN1_ENST00000545171.1_Missense_Mutation_p.D127N|UBN1_ENST00000590769.1_Missense_Mutation_p.D127N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	127	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D127N(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGACTTGATCGATATGGGGTA	0.403																																					p.D127N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	16						.						170.0	150.0	157.0					16																	4908611		2197	4300	6497	4848612	SO:0001583	missense	29855	exon3			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.379G>A	16.37:g.4908611G>A	ENSP00000379894:p.Asp127Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4848612	NM_016936	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	36	5.969863	0.97156	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.66280	0.37;-0.2;0.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80856	-0.1195	10	0.72032	D	0.01	-18.3231	20.5752	0.99366	0.0:0.0:1.0:0.0	.	127;127	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	127	ENSP00000262376:D127N;ENSP00000442379:D127N;ENSP00000379894:D127N	ENSP00000262376:D127N	D	+	1	0	UBN1	4848612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	GAT		0.403	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936	
PPL	5493	broad.mit.edu	37	16	4935680	4935680	+	Silent	SNP	G	G	A	rs568677812		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:4935680G>A	ENST00000345988.2	-	22	3065	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y	PPL_ENST00000590782.2_Silent_p.Y990Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	992					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.Y992Y(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTTGACCACGTACTCCTGCC	0.667																																					p.Y992Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2976T	16						.						89.0	90.0	89.0					16																	4935680		2197	4300	6497	4875681	SO:0001819	synonymous_variant	5493	exon22			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2976C>T	16.37:g.4935680G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4875681	NM_002705	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.667	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
CBLN1	869	broad.mit.edu	37	16	49313470	49313470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:49313470C>T	ENST00000219197.6	-	3	792	c.427G>A	c.(427-429)Gct>Act	p.A143T	CBLN1_ENST00000536749.1_Missense_Mutation_p.A143T	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)		p.A143T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TGGTCACCAGCGAAGGCTGAA	0.607																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	16						.						58.0	59.0	59.0					16																	49313470		2200	4300	6500	47870971	SO:0001583	missense	869	exon3			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.427G>A	16.37:g.49313470C>T	ENSP00000219197:p.Ala143Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47870971	NM_004352	B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249699	0.95305	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	T;T	0.39229	1.09;1.09	5.49	4.53	0.55603	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69087	-0.5238	10	0.87932	D	0	-6.2017	16.6542	0.85224	0.0:0.8699:0.1301:0.0	.	143	P23435	CBLN1_HUMAN	T	143	ENSP00000219197:A143T;ENSP00000444651:A143T	ENSP00000219197:A143T	A	-	1	0	CBLN1	47870971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	1.431000	0.47355	0.655000	0.94253	GCT		0.607	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352	
CYLD	1540	broad.mit.edu	37	16	50784087	50784087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:50784087G>A	ENST00000427738.3	+	2	683	c.478G>A	c.(478-480)Gga>Aga	p.G160R	CYLD_ENST00000564326.1_Missense_Mutation_p.G160R|CYLD_ENST00000311559.9_Missense_Mutation_p.G160R|CYLD_ENST00000568704.2_Missense_Mutation_p.G160R|CYLD_ENST00000540145.1_Missense_Mutation_p.G160R|CYLD_ENST00000398568.2_Missense_Mutation_p.G160R|CYLD_ENST00000566206.1_Missense_Mutation_p.G160R|CYLD_ENST00000569418.1_Missense_Mutation_p.G160R			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	160	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G160R(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GACAGTCTCCGGAATATTCTT	0.428			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																												p.G160R		yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478A	16						.						114.0	109.0	110.0					16																	50784087		1846	4091	5937	49341588	SO:0001583	missense	1540	exon4	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.478G>A	16.37:g.50784087G>A	ENSP00000392025:p.Gly160Arg	Somatic		Capture	Illumina HiSeq	Phase_I	49341588	NM_015247	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682048	0.88542	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91575	0.5274	10	0.66056	D	0.02	-25.2058	19.8676	0.96824	0.0:0.0:1.0:0.0	.	160;160;160;160	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	R	160	ENSP00000445447:G160R;ENSP00000308928:G160R;ENSP00000392025:G160R;ENSP00000381574:G160R	ENSP00000308928:G160R	G	+	1	0	CYLD	49341588	1.000000	0.71417	0.967000	0.41034	0.703000	0.40648	9.152000	0.94680	2.941000	0.99782	0.655000	0.94253	GGA		0.428	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
SALL1	6299	broad.mit.edu	37	16	51173149	51173149	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:51173149C>T	ENST00000251020.4	-	2	3017	c.2984G>A	c.(2983-2985)cGg>cAg	p.R995Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R898Q|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	995					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R995Q(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAATTTACCCCGGTCTCTAAA	0.433																																					p.R995Q	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2984A	16						.						51.0	53.0	52.0					16																	51173149		2197	4300	6497	49730650	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2984G>A	16.37:g.51173149C>T	ENSP00000251020:p.Arg995Gln	Somatic		Capture	Illumina HiSeq	Phase_I	49730650	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297795	0.81025	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08634	3.09;3.07	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.17662	0.0424	N	0.17345	0.48	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.07693	-1.0759	10	0.49607	T	0.09	.	19.6099	0.95600	0.0:1.0:0.0:0.0	.	995	Q9NSC2	SALL1_HUMAN	Q	995;898;959	ENSP00000251020:R995Q;ENSP00000407914:R898Q	ENSP00000251020:R995Q	R	-	2	0	SALL1	49730650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.626000	0.88956	0.557000	0.71058	CGG		0.433	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	broad.mit.edu	37	16	51173898	51173898	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:51173898C>T	ENST00000251020.4	-	2	2268	c.2235G>A	c.(2233-2235)acG>acA	p.T745T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.T648T|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	745					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T745T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATTCCCTTTCGTGGTGAAAG	0.547																																					p.T745T	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2235A	16						.						61.0	63.0	62.0					16																	51173898		2198	4300	6498	49731399	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2235G>A	16.37:g.51173898C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49731399	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SEC14L5	9717	broad.mit.edu	37	16	5058624	5058624	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:5058624T>C	ENST00000251170.7	+	14	1955	c.1775T>C	c.(1774-1776)gTc>gCc	p.V592A	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	592	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.V592A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCTCCCCTTGTCTGCCGGGAG	0.642																																					p.V592A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1775C	16						.						42.0	48.0	46.0					16																	5058624		1939	4127	6066	4998625	SO:0001583	missense	9717	exon14			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1775T>C	16.37:g.5058624T>C	ENSP00000251170:p.Val592Ala	Somatic		Capture	Illumina HiSeq	Phase_I	4998625	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	t	12.08	1.830668	0.32329	.	.	ENSG00000103184	ENST00000251170	T	0.45668	0.89	4.75	4.75	0.60458	GOLD (2);	1.022090	0.07816	N	0.958900	T	0.40247	0.1109	L	0.49350	1.555	0.28403	N	0.91853	B	0.12013	0.005	B	0.14023	0.01	T	0.24657	-1.0154	10	0.44086	T	0.13	-11.2116	9.7488	0.40464	0.0:0.0811:0.0:0.9189	.	592	O43304	S14L5_HUMAN	A	592	ENSP00000251170:V592A	ENSP00000251170:V592A	V	+	2	0	SEC14L5	4998625	0.779000	0.28652	0.845000	0.33349	0.612000	0.37316	3.530000	0.53539	2.002000	0.58637	0.454000	0.30748	GTC		0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
FAM86A	196483	broad.mit.edu	37	16	5145470	5145470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:5145470G>A	ENST00000427587.4	-	2	210	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	FAM86A_ENST00000458008.4_Missense_Mutation_p.R48W|FAM86A_ENST00000587133.1_Missense_Mutation_p.R48W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	48						cytoplasm (GO:0005737)		p.R48W(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAAATATCCCGCAGCAGCTCA	0.488																																					p.R48W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142T	16						.						66.0	69.0	68.0					16																	5145470		2197	4296	6493	5085471	SO:0001583	missense	196483	exon2			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.142C>T	16.37:g.5145470G>A	ENSP00000398502:p.Arg48Trp	Somatic		Capture	Illumina HiSeq	Phase_I	5085471	NM_201400	D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	6.650	0.488467	0.12641	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19250	2.16;2.16	4.06	3.11	0.35812	.	0.619434	0.14382	U	0.323073	T	0.14700	0.0355	L	0.33485	1.01	0.21719	N	0.999577	B;B	0.15930	0.015;0.009	B;B	0.13407	0.009;0.004	T	0.18053	-1.0349	10	0.48119	T	0.1	.	5.5603	0.17140	0.1108:0.2028:0.6865:0.0	.	48;48	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	48	ENSP00000389710:R48W;ENSP00000398502:R48W	ENSP00000398502:R48W	R	-	1	2	FAM86A	5085471	1.000000	0.71417	0.996000	0.52242	0.167000	0.22549	1.229000	0.32600	0.935000	0.37341	0.455000	0.32223	CGG		0.488	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400	
SALL1	6299	broad.mit.edu	37	16	51175306	51175306	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:51175306C>T	ENST00000251020.4	-	2	860	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R179Q|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	276					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R276Q(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCAGATGTTCGTAAAGTACC	0.502																																					p.R276Q	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G827A	16						.						89.0	89.0	89.0					16																	51175306		2198	4300	6498	49732807	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.827G>A	16.37:g.51175306C>T	ENSP00000251020:p.Arg276Gln	Somatic		Capture	Illumina HiSeq	Phase_I	49732807	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941928	0.34283	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.05717	3.4;3.43	4.75	4.75	0.60458	.	0.124671	0.56097	D	0.000039	T	0.04003	0.0112	N	0.25647	0.755	0.46416	D	0.99903	P	0.48640	0.913	B	0.28385	0.089	T	0.56288	-0.8004	10	0.13853	T	0.58	-6.872	17.9375	0.89017	0.0:1.0:0.0:0.0	.	276	Q9NSC2	SALL1_HUMAN	Q	276;179;240	ENSP00000251020:R276Q;ENSP00000407914:R179Q	ENSP00000251020:R276Q	R	-	2	0	SALL1	49732807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.698000	0.61789	2.445000	0.82738	0.491000	0.48974	CGA		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	broad.mit.edu	37	16	53260335	53260335	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:53260335A>C	ENST00000398510.3	+	4	2041	c.1954A>C	c.(1954-1956)Aag>Cag	p.K652Q	CHD9_ENST00000447540.1_Missense_Mutation_p.K652Q|CHD9_ENST00000564845.1_Missense_Mutation_p.K652Q|CHD9_ENST00000566029.1_Missense_Mutation_p.K652Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	652	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K652Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATAGAAGGGAAGCAATCTGA	0.299																																					p.K652Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1954C	16						.						82.0	81.0	81.0					16																	53260335		1794	4065	5859	51817836	SO:0001583	missense	80205	exon5			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1954A>C	16.37:g.53260335A>C	ENSP00000381522:p.Lys652Gln	Somatic		Capture	Illumina HiSeq	Phase_I	51817836	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	23.6	4.430679	0.83776	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.65364	-0.15;-0.15	5.39	5.39	0.77823	.	0.093708	0.45867	D	0.000338	T	0.74550	0.3731	L	0.61218	1.895	0.36034	D	0.839606	P;D;P;P	0.55172	0.914;0.97;0.745;0.835	P;P;B;B	0.61201	0.461;0.885;0.188;0.347	T	0.81665	-0.0830	10	0.59425	D	0.04	-15.4851	15.4078	0.74893	1.0:0.0:0.0:0.0	.	178;652;652;652	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Q	652;652;178	ENSP00000396345:K652Q;ENSP00000381522:K652Q	ENSP00000219084:K178Q	K	+	1	0	CHD9	51817836	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	5.108000	0.64609	2.045000	0.60652	0.533000	0.62120	AAG		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53341697	53341697	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:53341697C>A	ENST00000398510.3	+	32	6972	c.6885C>A	c.(6883-6885)ttC>ttA	p.F2295L	CHD9_ENST00000447540.1_Missense_Mutation_p.F2296L|CHD9_ENST00000564845.1_Missense_Mutation_p.F2295L|CHD9_ENST00000566029.1_Missense_Mutation_p.F2295L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2295					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F2296L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCTTCTTTCTATACCACAA	0.463																																					p.F2295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6885A	16						.						54.0	56.0	55.0					16																	53341697		1941	4140	6081	51899198	SO:0001583	missense	80205	exon33			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6885C>A	16.37:g.53341697C>A	ENSP00000381522:p.Phe2295Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51899198	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	12.05	1.822293	0.32237	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.85411	-1.94;-1.98	5.57	4.61	0.57282	.	0.000000	0.64402	D	0.000014	D	0.86489	0.5945	L	0.40543	1.245	0.58432	D	0.999998	B;B;D;B;D	0.61697	0.019;0.274;0.974;0.324;0.99	B;B;D;B;D	0.72982	0.009;0.13;0.969;0.172;0.979	T	0.82428	-0.0462	10	0.02654	T	1	-9.7413	15.0441	0.71813	0.0:0.9307:0.0:0.0693	.	361;2295;2296;2295;2295	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	L	2296;2295;361	ENSP00000396345:F2296L;ENSP00000381522:F2295L	ENSP00000381522:F2295L	F	+	3	2	CHD9	51899198	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.867000	0.39499	1.459000	0.47892	0.650000	0.86243	TTC		0.463	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53352161	53352161	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:53352161G>T	ENST00000398510.3	+	36	7709	c.7622G>T	c.(7621-7623)aGa>aTa	p.R2541I	CHD9_ENST00000447540.1_Missense_Mutation_p.R2526I|CHD9_ENST00000564845.1_Missense_Mutation_p.R2525I|CHD9_ENST00000566029.1_Missense_Mutation_p.R2525I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2541					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R2542I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAACAAAAAAGACACCGTTGC	0.328																																					p.R2525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7574T	16						.						87.0	85.0	85.0					16																	53352161		1808	4072	5880	51909662	SO:0001583	missense	80205	exon37			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7622G>T	16.37:g.53352161G>T	ENSP00000381522:p.Arg2541Ile	Somatic		Capture	Illumina HiSeq	Phase_I	51909662	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	33	5.196710	0.94960	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.91464	-2.85	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	D	0.94857	0.8338	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.85130	0.997;0.996;0.993;0.996	D	0.94688	0.7871	10	0.72032	D	0.01	-12.5952	20.0016	0.97412	0.0:0.0:1.0:0.0	.	607;2526;2541;2525	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	2526;2525;607	ENSP00000396345:R2526I	ENSP00000381522:R2525I	R	+	2	0	CHD9	51909662	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.358000	0.97109	2.802000	0.96397	0.655000	0.94253	AGA		0.328	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RBL2	5934	broad.mit.edu	37	16	53476577	53476577	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:53476577G>A	ENST00000262133.6	+	3	516	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	RNU6-1153P_ENST00000516760.1_RNA	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	127					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.E127K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCTTAATCGAATTTTTTAA	0.308																																					p.E127K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	16						.						32.0	34.0	34.0					16																	53476577		2197	4300	6497	52034078	SO:0001583	missense	5934	exon3			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.379G>A	16.37:g.53476577G>A	ENSP00000262133:p.Glu127Lys	Somatic		Capture	Illumina HiSeq	Phase_I	52034078	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653723	0.88056	.	.	ENSG00000103479	ENST00000262133;ENST00000544405	T;T	0.74737	-0.87;-0.87	5.74	5.74	0.90152	Domain of unknown function DUF3452, retinoblastoma-associated (1);Cyclin-like (1);	0.046297	0.85682	D	0.000000	T	0.80076	0.4557	L	0.59436	1.845	0.80722	D	1	D;D	0.59767	0.981;0.986	P;P	0.51079	0.658;0.483	T	0.81134	-0.1071	10	0.66056	D	0.02	-23.2982	19.9533	0.97211	0.0:0.0:1.0:0.0	.	127;127	Q8NE70;Q08999	.;RBL2_HUMAN	K	127;53	ENSP00000262133:E127K;ENSP00000443744:E53K	ENSP00000262133:E127K	E	+	1	0	RBL2	52034078	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.443000	0.66581	2.881000	0.98747	0.650000	0.86243	GAA		0.308	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
RPGRIP1L	23322	broad.mit.edu	37	16	53692704	53692704	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:53692704G>A	ENST00000379925.3	-	11	1380	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R444C|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R444C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R444C	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	444					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R444C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AATTTTATGCGTTTTTTAAGT	0.274																																					p.R444C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1330T	16						.						128.0	116.0	120.0					16																	53692704		2196	4298	6494	52250205	SO:0001583	missense	23322	exon11				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1330C>T	16.37:g.53692704G>A	ENSP00000369257:p.Arg444Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52250205	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390996	0.62066	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.89746	-0.15;-2.56	5.69	4.73	0.59995	.	0.403681	0.30101	N	0.010420	D	0.88647	0.6493	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.994;0.994;0.998;0.998	P;P;P;P	0.55087	0.708;0.708;0.708;0.768	D	0.88089	0.2812	10	0.66056	D	0.02	0.366	7.0239	0.24930	0.1466:0.0:0.7128:0.1407	.	444;444;444;444	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	C	444	ENSP00000369257:R444C;ENSP00000262135:R444C	ENSP00000262135:R444C	R	-	1	0	RPGRIP1L	52250205	1.000000	0.71417	0.994000	0.49952	0.863000	0.49368	3.009000	0.49552	1.416000	0.47057	0.655000	0.94253	CGC		0.274	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
IRX6	79190	broad.mit.edu	37	16	55361281	55361281	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55361281C>T	ENST00000290552.7	+	3	1709	c.377C>T	c.(376-378)cCc>cTc	p.P126L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	126					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P126L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCTATTATCCCTATGAGCGG	0.512																																					p.P126L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377T	16						.						74.0	73.0	73.0					16																	55361281		2198	4300	6498	53918782	SO:0001583	missense	79190	exon3			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.377C>T	16.37:g.55361281C>T	ENSP00000290552:p.Pro126Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53918782	NM_024335	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681088	0.88542	.	.	ENSG00000159387	ENST00000290552	D	0.92348	-3.02	5.55	5.55	0.83447	.	0.292989	0.38436	N	0.001691	D	0.93776	0.8010	M	0.85945	2.785	0.80722	D	1	P;P	0.50066	0.563;0.931	B;B	0.44224	0.265;0.444	D	0.94567	0.7767	10	0.72032	D	0.01	-4.3068	19.3061	0.94163	0.0:1.0:0.0:0.0	.	126;25	P78412;Q9BZI2	IRX6_HUMAN;.	L	126	ENSP00000290552:P126L	ENSP00000290552:P126L	P	+	2	0	IRX6	53918782	0.998000	0.40836	0.932000	0.37286	0.958000	0.62258	7.148000	0.77389	2.894000	0.99253	0.655000	0.94253	CCC		0.512	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
LPCAT2	54947	broad.mit.edu	37	16	55613060	55613060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55613060G>T	ENST00000262134.5	+	13	1538	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	452	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.E452*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AACGGAGGAAGAGTTCTCCAC	0.438																																					p.E452X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1354T	16						.						168.0	168.0	168.0					16																	55613060		2198	4300	6498	54170561	SO:0001587	stop_gained	54947	exon13			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1354G>T	16.37:g.55613060G>T	ENSP00000262134:p.Glu452*	Somatic		Capture	Illumina HiSeq	Phase_I	54170561	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	41	8.741720	0.98935	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-38.6003	17.8157	0.88632	0.0:0.0:1.0:0.0	.	.	.	.	X	452	.	ENSP00000262134:E452X	E	+	1	0	LPCAT2	54170561	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.914000	0.69964	2.818000	0.97014	0.655000	0.94253	GAG		0.438	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	
SLC6A2	6530	broad.mit.edu	37	16	55690777	55690777	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55690777G>A	ENST00000379906.2	+	1	426	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLC6A2_ENST00000219833.8_Silent_p.E57E|SLC6A2_ENST00000561820.1_Silent_p.E57E|SLC6A2_ENST00000566163.1_Silent_p.E57E|SLC6A2_ENST00000568943.1_Silent_p.E57E|SLC6A2_ENST00000414754.3_Silent_p.E57E	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	57					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.E57E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCCCCGGGAGACCTGGGGCA	0.677																																					p.E57E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G171A	16						.						55.0	57.0	56.0					16																	55690777		2198	4300	6498	54248278	SO:0001819	synonymous_variant	6530	exon1				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.171G>A	16.37:g.55690777G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54248278	NM_001172504	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.677	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
SLC6A2	6530	broad.mit.edu	37	16	55734144	55734144	+	Missense_Mutation	SNP	G	G	A	rs144701163		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55734144G>A	ENST00000379906.2	+	12	1939	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	SLC6A2_ENST00000219833.8_Missense_Mutation_p.A562T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A562T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A517T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A562T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A457T|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	562					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.A562T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTGGGGCATCGCCCTGTCCTC	0.582																																					p.A562T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1684A	16						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4396		0,0,2198	123.0	105.0	111.0		1684,1684,1369,1684	3.4	0.9	16	dbSNP_134	111	1,8599		0,1,4299	no	missense,missense,missense,missense	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	58,58,58,58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	562/618,562/618,457/513,562/629	55734144	1,12995	2198	4300	6498	54291645	SO:0001583	missense	6530	exon12				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1684G>A	16.37:g.55734144G>A	ENSP00000369237:p.Ala562Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54291645	NM_001172504	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834515	0.71373	0.0	1.16E-4	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.75154	-0.91;-0.91	5.38	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.56769	1.78	0.58432	D	0.999999	D;D;D	0.65815	0.985;0.995;0.988	P;P;P	0.62382	0.793;0.901;0.901	T	0.80197	-0.1482	10	0.48119	T	0.1	.	13.4387	0.61099	0.0:0.0:0.7137:0.2863	.	276;457;562	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	T	562;276;562;562	ENSP00000369237:A562T;ENSP00000219833:A562T	ENSP00000219833:A562T	A	+	1	0	SLC6A2	54291645	1.000000	0.71417	0.890000	0.34922	0.832000	0.47134	6.211000	0.72182	0.599000	0.29845	-0.152000	0.13540	GCC		0.582	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
CES1	1066	broad.mit.edu	37	16	55844438	55844438	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55844438T>G	ENST00000361503.4	-	11	1436	c.1306A>C	c.(1306-1308)Aac>Cac	p.N436H	CES1_ENST00000422046.2_Missense_Mutation_p.N435H|CES1_ENST00000360526.3_Missense_Mutation_p.N437H			P23141	EST1_HUMAN	carboxylesterase 1	436					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.N437H(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCTCTGTGGTTCCGGGCCACA	0.512																																					p.N436H	NSCLC(162;1801 2756 42904 52896)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1306C	16						.						144.0	149.0	147.0					16																	55844438		2198	4300	6498	54401939	SO:0001583	missense	1066	exon11			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1306A>C	16.37:g.55844438T>G	ENSP00000355193:p.Asn436His	Somatic		Capture	Illumina HiSeq	Phase_I	54401939	NM_001025194	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	4.472	0.087530	0.08583	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.09445	3.17;3.17;2.98	4.69	-9.38	0.00623	Carboxylesterase, type B (1);	2.054310	0.01795	N	0.032550	T	0.02418	0.0074	N	0.01081	-1.03	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40961	-0.9535	10	0.27082	T	0.32	.	0.617	0.00771	0.3515:0.249:0.1165:0.283	.	435;436;437	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	H	437;436;435;301	ENSP00000353720:N437H;ENSP00000355193:N436H;ENSP00000390492:N435H	ENSP00000353720:N437H	N	-	1	0	CES1	54401939	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-1.034000	0.03567	-2.598000	0.00452	-2.091000	0.00372	AAC		0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	
CES5A	221223	broad.mit.edu	37	16	55880479	55880479	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55880479A>C	ENST00000290567.9	-	13	1733	c.1612T>G	c.(1612-1614)Ttt>Gtt	p.F538V	CES5A_ENST00000521992.1_Missense_Mutation_p.F567V|CES5A_ENST00000518005.1_Missense_Mutation_p.F432V|CES5A_ENST00000520435.1_Missense_Mutation_p.F508V|CES5A_ENST00000319165.9_Missense_Mutation_p.F488V|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	538						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.F488V(1)|p.F567V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGTCCAAAAATCCACCCGC	0.522																																					p.F538V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1612G	16						.						211.0	207.0	208.0					16																	55880479		2198	4300	6498	54437980	SO:0001583	missense	221223	exon13			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1612T>G	16.37:g.55880479A>C	ENSP00000290567:p.Phe538Val	Somatic		Capture	Illumina HiSeq	Phase_I	54437980	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.667323	0.29604	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	5.61	4.52	0.55395	Carboxylesterase, type B (1);	0.142130	0.32852	N	0.005574	T	0.33498	0.0865	M	0.81179	2.53	0.45183	D	0.998192	D;D	0.60160	0.987;0.987	P;P	0.60789	0.879;0.865	T	0.09509	-1.0671	10	0.87932	D	0	.	9.9805	0.41811	0.9199:0.0:0.0801:0.0	.	538;488	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	V	567;488;432;538;508;318	ENSP00000428864:F567V;ENSP00000324271:F488V;ENSP00000428571:F432V;ENSP00000290567:F538V;ENSP00000428887:F508V	ENSP00000290567:F538V	F	-	1	0	CES5A	54437980	0.985000	0.35326	0.809000	0.32408	0.017000	0.09413	2.815000	0.48018	1.065000	0.40693	0.533000	0.62120	TTT		0.522	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
CES5A	221223	broad.mit.edu	37	16	55883602	55883602	+	Missense_Mutation	SNP	C	C	T	rs201764615		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55883602C>T	ENST00000290567.9	-	11	1478	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	CES5A_ENST00000521992.1_Missense_Mutation_p.D482N|CES5A_ENST00000518005.1_Missense_Mutation_p.D347N|CES5A_ENST00000520435.1_Missense_Mutation_p.D423N|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	453						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.D482N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAGCGTGGTCGGCTTTGACA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0				p.D453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	16						.						146.0	128.0	133.0					16																	55883602		1568	3582	5150	54441103	SO:0001583	missense	221223	exon11			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1357G>A	16.37:g.55883602C>T	ENSP00000290567:p.Asp453Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54441103	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	21.1	4.105085	0.77096	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.29	5.29	0.74685	Carboxylesterase, type B (1);	0.134965	0.33938	N	0.004409	T	0.34454	0.0898	M	0.85373	2.75	0.44447	D	0.997377	D	0.89917	1.0	D	0.97110	1.0	T	0.07597	-1.0764	10	0.72032	D	0.01	.	17.2313	0.86984	0.0:1.0:0.0:0.0	.	453	Q6NT32	EST5A_HUMAN	N	482;347;453;423;233	ENSP00000428864:D482N;ENSP00000428571:D347N;ENSP00000290567:D453N;ENSP00000428887:D423N	ENSP00000290567:D453N	D	-	1	0	CES5A	54441103	1.000000	0.71417	0.726000	0.30738	0.454000	0.32378	6.064000	0.71169	2.855000	0.98099	0.655000	0.94253	GAC		0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
CES5A	221223	broad.mit.edu	37	16	55893547	55893547	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55893547G>T	ENST00000290567.9	-	8	1089	c.968C>A	c.(967-969)cCt>cAt	p.P323H	CES5A_ENST00000521992.1_Missense_Mutation_p.P352H|CES5A_ENST00000518005.1_Missense_Mutation_p.P217H|CES5A_ENST00000520435.1_Missense_Mutation_p.P293H|CES5A_ENST00000319165.9_Missense_Mutation_p.P323H|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	323						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.P323H(1)|p.P352H(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAGATCTAGAGGCTCATTAGG	0.388																																					p.P323H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C968A	16						.						71.0	68.0	69.0					16																	55893547		2198	4300	6498	54451048	SO:0001583	missense	221223	exon8			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.968C>A	16.37:g.55893547G>T	ENSP00000290567:p.Pro323His	Somatic		Capture	Illumina HiSeq	Phase_I	54451048	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783690	0.49891	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.23	4.27	0.50696	Carboxylesterase, type B (1);	0.000000	0.41712	D	0.000838	D	0.89469	0.6724	H	0.97265	3.97	0.19575	N	0.999968	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	T	0.82500	-0.0426	10	0.87932	D	0	.	8.4417	0.32818	0.1779:0.0:0.8221:0.0	.	323;323	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	H	352;323;217;323;293;104	ENSP00000428864:P352H;ENSP00000324271:P323H;ENSP00000428571:P217H;ENSP00000290567:P323H;ENSP00000428887:P293H	ENSP00000290567:P323H	P	-	2	0	CES5A	54451048	0.892000	0.30473	0.036000	0.18154	0.041000	0.13682	1.763000	0.38461	1.208000	0.43306	0.552000	0.68991	CCT		0.388	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507																																					p.D252N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G754A	16						.						154.0	128.0	137.0					16																	56385326		2198	4300	6498	54942827	SO:0001583	missense	2775	exon7				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.754G>A	16.37:g.56385326G>A	ENSP00000262493:p.Asp252Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54942827	NM_020988	P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	GNAO1	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC		0.507	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988	
NUDT21	11051	broad.mit.edu	37	16	56481821	56481821	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56481821C>T	ENST00000300291.5	-	2	369	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	66	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R66H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TTCCCTCATGCGCTGAAATCT	0.468																																					p.R66H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	16						.						100.0	90.0	94.0					16																	56481821		2198	4300	6498	55039322	SO:0001583	missense	11051	exon2			AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.197G>A	16.37:g.56481821C>T	ENSP00000300291:p.Arg66His	Somatic		Capture	Illumina HiSeq	Phase_I	55039322	NM_007006	Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572648	0.86542	.	.	ENSG00000167005	ENST00000300291;ENST00000535563	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.93808	3.46	0.80722	D	1	B	0.23058	0.079	B	0.24269	0.052	T	0.80390	-0.1402	9	0.87932	D	0	0.0179	20.2963	0.98556	0.0:1.0:0.0:0.0	.	66	O43809	CPSF5_HUMAN	H	66	.	ENSP00000300291:R66H	R	-	2	0	NUDT21	55039322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	CGC		0.468	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006	
BBS2	583	broad.mit.edu	37	16	56536710	56536710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56536710C>T	ENST00000245157.5	-	8	1235	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.R272Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	272					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R272Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCGGTCACTTCGAGCATCAAC	0.363									Bardet-Biedl syndrome																												p.R272Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G815A	16						.						58.0	55.0	56.0					16																	56536710		2198	4300	6498	55094211	SO:0001583	missense	583	exon8	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.815G>A	16.37:g.56536710C>T	ENSP00000245157:p.Arg272Gln	Somatic		Capture	Illumina HiSeq	Phase_I	55094211	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651686	0.96714	.	.	ENSG00000125124	ENST00000245157	T	0.65549	-0.16	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79550	-0.1757	10	0.33141	T	0.24	-6.7716	20.3207	0.98668	0.0:1.0:0.0:0.0	.	272;272	A8K0N9;Q9BXC9	.;BBS2_HUMAN	Q	272	ENSP00000245157:R272Q	ENSP00000245157:R272Q	R	-	2	0	BBS2	55094211	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.813000	0.96785	0.561000	0.74099	CGA		0.363	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
MT1B	4490	broad.mit.edu	37	16	56686973	56686973	+	Missense_Mutation	SNP	C	C	G	rs375734082		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56686973C>G	ENST00000334346.2	+	3	237	c.182C>G	c.(181-183)gCc>gGc	p.A61G	MT1B_ENST00000562399.1_Missense_Mutation_p.C60W|RP11-249C24.11_ENST00000568608.1_RNA	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	61	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A61V(1)|p.A61G(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCTGCTGTGCCTGATGTTGG	0.527																																					p.A61G												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C182G	16						.						84.0	84.0	84.0					16																	56686973		2198	4300	6498	55244474	SO:0001583	missense	4490	exon3			AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688		"""Metallothioneins"""	7394	protein-coding gene	gene with protein product		156349	"""metallothionein 1Q"""	MT1, MT1Q		6089206, 3785191	Standard	NM_005947		Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.182C>G	16.37:g.56686973C>G	ENSP00000334998:p.Ala61Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55244474	NM_005947	Q86YX0	Missense_Mutation	SNP	ENST00000334346.2	37	CCDS10765.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.135539	0.01742	.	.	ENSG00000169688	ENST00000334346	T	0.10099	2.91	2.84	1.73	0.24493	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.347275	0.22648	U	0.057378	T	0.09069	0.0224	.	.	.	0.34022	D	0.652723	B	0.26445	0.149	B	0.29176	0.099	T	0.09796	-1.0658	9	0.87932	D	0	.	6.7096	0.23270	0.3945:0.6055:0.0:0.0	.	61	P07438	MT1B_HUMAN	G	61	ENSP00000334998:A61G	ENSP00000334998:A61G	A	+	2	0	MT1B	55244474	0.011000	0.17503	0.613000	0.29037	0.063000	0.16089	0.059000	0.14322	1.572000	0.49736	0.514000	0.50259	GCC		0.527	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257057.2	NM_005947	
CETP	1071	broad.mit.edu	37	16	57003556	57003556	+	Silent	SNP	C	C	T	rs143400682		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57003556C>T	ENST00000566128.1	+	4	474	c.207C>T	c.(205-207)atC>atT	p.I69I	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Silent_p.I134I|CETP_ENST00000379780.2_Silent_p.I134I					cholesteryl ester transfer protein, plasma									p.I134I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ACTTCGAGATCGACTCTGCCA	0.587																																					p.I134I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.C402T	16						.						154.0	123.0	133.0					16																	57003556		2198	4300	6498	55561057	SO:0001819	synonymous_variant	1071	exon4			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.207C>T	16.37:g.57003556C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55561057	NM_000078		Silent	SNP	ENST00000566128.1	37																																																																																					0.587	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
CETP	1071	broad.mit.edu	37	16	57015105	57015105	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57015105G>T	ENST00000566128.1	+	12	1254	c.987G>T	c.(985-987)aaG>aaT	p.K329N	CETP_ENST00000200676.3_Missense_Mutation_p.K394N|CETP_ENST00000379780.2_Missense_Mutation_p.K334N					cholesteryl ester transfer protein, plasma									p.K394N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTATTCTAAGAAAAAGCTCT	0.537																																					p.K394N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1182T	16						.						80.0	87.0	85.0					16																	57015105		2198	4300	6498	55572606	SO:0001583	missense	1071	exon12			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.987G>T	16.37:g.57015105G>T	ENSP00000456276:p.Lys329Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55572606	NM_000078		Missense_Mutation	SNP	ENST00000566128.1	37		.	.	.	.	.	.	.	.	.	.	G	9.670	1.146508	0.21288	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.06933	3.24;3.24	4.0	0.564	0.17302	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.627020	0.15316	U	0.268793	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	P;B	0.36535	0.557;0.323	B;B	0.30782	0.12;0.072	T	0.44003	-0.9356	10	0.17369	T	0.5	-8.0971	5.6948	0.17849	0.1132:0.3889:0.4978:0.0	.	334;394	P11597-2;P11597	.;CETP_HUMAN	N	394;334	ENSP00000200676:K394N;ENSP00000369106:K334N	ENSP00000200676:K394N	K	+	3	2	CETP	55572606	0.059000	0.20769	0.022000	0.16811	0.714000	0.41099	0.010000	0.13242	0.296000	0.22592	0.313000	0.20887	AAG		0.537	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
NLRC5	84166	broad.mit.edu	37	16	57060867	57060867	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57060867G>T	ENST00000262510.6	+	6	2237	c.2012G>T	c.(2011-2013)gGc>gTc	p.G671V	NLRC5_ENST00000308149.7_Missense_Mutation_p.G671V|NLRC5_ENST00000436936.1_Missense_Mutation_p.G671V|NLRC5_ENST00000539144.1_Missense_Mutation_p.G671V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	671					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.G671V(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATTTTGATGGCTGTCCCCTG	0.602																																					p.G671V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2012T	16						.						61.0	56.0	58.0					16																	57060867		2198	4300	6498	55618368	SO:0001583	missense	84166	exon6			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2012G>T	16.37:g.57060867G>T	ENSP00000262510:p.Gly671Val	Somatic		Capture	Illumina HiSeq	Phase_I	55618368	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.129417|4.129417	0.77549|0.77549	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.56103|.	0.48;0.48;0.48;0.48;0.48;0.48|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.35151|.	N|.	0.003410|.	T|T	0.77665|0.77665	0.4164|0.4164	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.89917|.	1.0;1.0;0.999;0.573|.	D;D;D;P|.	0.81914|.	0.995;0.995;0.991;0.576|.	T|T	0.78206|0.78206	-0.2294|-0.2294	10|5	0.66056|.	D|.	0.02|.	.|.	18.0752|18.0752	0.89425|0.89425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	671;671;671;671|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	V|C	671;671;671;145;671;178;26|423	ENSP00000262510:G671V;ENSP00000308886:G671V;ENSP00000389739:G671V;ENSP00000441727:G671V;ENSP00000441597:G178V;ENSP00000440153:G26V|.	ENSP00000262510:G671V|.	G|W	+|+	2|3	0|0	NLRC5|NLRC5	55618368|55618368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.818000|7.818000	0.86416|0.86416	2.524000|2.524000	0.85096|0.85096	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NLRC5	84166	broad.mit.edu	37	16	57062290	57062290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57062290G>T	ENST00000262510.6	+	8	2461	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.E746*|NLRC5_ENST00000436936.1_Nonsense_Mutation_p.E746*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.E746*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	746					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.E746*(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACAGCTGAAAGAAGTCAGGTG	0.557																																					p.E746X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2236T	16						.						78.0	73.0	75.0					16																	57062290		2198	4300	6498	55619791	SO:0001587	stop_gained	84166	exon8			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2236G>T	16.37:g.57062290G>T	ENSP00000262510:p.Glu746*	Somatic		Capture	Illumina HiSeq	Phase_I	55619791	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.977192|9.977192	0.99309|0.99309	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.32901|.	N|.	0.005514|.	.|T	.|0.72120	.|0.3421	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72887	.|-0.4156	.|3	0.28530|.	T|.	0.3|.	.|.	16.471|16.471	0.84112|0.84112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	746;746;746;220;746;253|498	.|.	ENSP00000262510:E746X|.	E|R	+|+	1|2	0|0	NLRC5|NLRC5	55619791|55619791	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	5.396000|5.396000	0.66297|0.66297	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
COQ9	57017	broad.mit.edu	37	16	57485091	57485091	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57485091T>C	ENST00000262507.6	+	2	282	c.213T>C	c.(211-213)ccT>ccC	p.P71P	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Silent_p.P71P|COQ9_ENST00000567072.1_Silent_p.P71P	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	71					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P71P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CAGAAAAACCTGATCCAGAGT	0.498																																					p.P71P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T213C	16						.						80.0	82.0	82.0					16																	57485091		2198	4300	6498	56042592	SO:0001819	synonymous_variant	57017	exon2			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.213T>C	16.37:g.57485091T>C		Somatic		Capture	Illumina HiSeq	Phase_I	56042592	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Silent	SNP	ENST00000262507.6	37	CCDS32459.1																																																																																				0.498	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	
GPR114	221188	broad.mit.edu	37	16	57601930	57601930	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57601930C>T	ENST00000340339.4	+	9	1507	c.984C>T	c.(982-984)tgC>tgT	p.C328C	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.C328C	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	328					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C328C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCTCAGCTGCCTCACCTGGA	0.602																																					p.C328C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C984T	16						.						113.0	87.0	96.0					16																	57601930		2198	4300	6498	56159431	SO:0001819	synonymous_variant	221188	exon9			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.984C>T	16.37:g.57601930C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56159431	NM_153837	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	CCDS10785.1																																																																																				0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
GPR114	221188	broad.mit.edu	37	16	57609354	57609354	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57609354C>A	ENST00000340339.4	+	12	2014	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F497L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	497					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F497L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGCAGGTTTCTTCCTTTTCC	0.612																																					p.F497L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1491A	16						.						69.0	59.0	62.0					16																	57609354		2198	4300	6498	56166855	SO:0001583	missense	221188	exon12			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1491C>A	16.37:g.57609354C>A	ENSP00000342981:p.Phe497Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56166855	NM_153837	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952879	0.34471	.	.	ENSG00000159618	ENST00000340339	T	0.47177	0.85	4.48	2.33	0.28932	GPCR, family 2-like (1);	.	.	.	.	T	0.30103	0.0754	L	0.31845	0.965	0.39933	D	0.974316	B	0.15473	0.013	B	0.16722	0.016	T	0.09207	-1.0685	9	0.20519	T	0.43	.	4.3043	0.10938	0.0:0.5994:0.1915:0.2092	.	497	Q8IZF4	GP114_HUMAN	L	497	ENSP00000342981:F497L	ENSP00000342981:F497L	F	+	3	2	GPR114	56166855	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	0.754000	0.26390	1.006000	0.39211	0.491000	0.48974	TTC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
CNOT1	23019	broad.mit.edu	37	16	58557301	58557301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58557301G>A	ENST00000317147.5	-	47	7222	c.6890C>T	c.(6889-6891)aCg>aTg	p.T2297M	CNOT1_ENST00000245138.4_Missense_Mutation_p.T1148M|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2292M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2297					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T2297M(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GATGGCTTCCGTATTGGCCTC	0.403																																					p.T2297M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6890T	16						.						180.0	170.0	174.0					16																	58557301		2198	4300	6498	57114802	SO:0001583	missense	23019	exon47			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6890C>T	16.37:g.58557301G>A	ENSP00000320949:p.Thr2297Met	Somatic		Capture	Illumina HiSeq	Phase_I	57114802	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959501|4.959501	0.92791|0.92791	.|.	.|.	ENSG00000125107|ENSG00000125107	ENST00000546037|ENST00000317147;ENST00000422872;ENST00000245138	.|T	.|0.46819	.|0.86	6.03|6.03	6.03|6.03	0.97812|0.97812	.|CCR4-Not complex component, Not1, C-terminal (1);	.|0.053402	.|0.85682	.|D	.|0.000000	T|T	0.50446|0.50446	0.1616|0.1616	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.50443	.|0.935;0.616;0.406	.|B;B;B	.|0.42555	.|0.391;0.344;0.314	T|T	0.51965|0.51965	-0.8638|-0.8638	6|10	0.56958|0.49607	D|T	0.05|0.09	-19.1262|-19.1262	19.545|19.545	0.95291|0.95291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1148;2297;2292	.|B5MDN3;A5YKK6;A5YKK6-2	.|.;CNOT1_HUMAN;.	W|M	302|2297;991;1148	.|ENSP00000320949:T2297M	ENSP00000445703:R302W|ENSP00000245138:T1148M	R|T	-|-	1|2	2|0	CNOT1|CNOT1	57114802|57114802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.631000|9.631000	0.98424|0.98424	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58559906	58559906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58559906C>T	ENST00000317147.5	-	45	6922	c.6590G>A	c.(6589-6591)cGc>cAc	p.R2197H	CNOT1_ENST00000245138.4_Missense_Mutation_p.R1048H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R2192H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2197					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R2197H(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTTGCTGCGCAGATCAGA	0.413																																					p.R2197H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6590A	16						.						145.0	141.0	142.0					16																	58559906		2198	4300	6498	57117407	SO:0001583	missense	23019	exon45			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6590G>A	16.37:g.58559906C>T	ENSP00000320949:p.Arg2197His	Somatic		Capture	Illumina HiSeq	Phase_I	57117407	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279338	0.95489	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.49139	0.79	5.92	5.92	0.95590	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.944;0.942	D;P;P	0.76575	0.988;0.732;0.705	T	0.60742	-0.7203	10	0.15499	T	0.54	-6.3408	19.3123	0.94195	0.0:1.0:0.0:0.0	.	1048;2197;2192	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	2197;891;202;1048	ENSP00000320949:R2197H	ENSP00000245138:R1048H	R	-	2	0	CNOT1	57117407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.798000	0.96311	0.557000	0.71058	CGC		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58568124	58568124	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58568124C>T	ENST00000317147.5	-	40	6154	c.5822G>A	c.(5821-5823)cGa>cAa	p.R1941Q	CNOT1_ENST00000245138.4_Missense_Mutation_p.R792Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1936Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1941					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R1941Q(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCAATGAGTCGAACAAAGGC	0.498																																					p.R1941Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5822A	16						.						185.0	139.0	155.0					16																	58568124		2198	4300	6498	57125625	SO:0001583	missense	23019	exon40			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5822G>A	16.37:g.58568124C>T	ENSP00000320949:p.Arg1941Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57125625	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777436	0.96929	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.76575	0.866;0.924;0.988	T	0.69202	-0.5207	10	0.48119	T	0.1	.	20.1175	0.97942	0.0:1.0:0.0:0.0	.	792;1941;1936	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Q	1941;635;792;1936	ENSP00000320949:R1941Q	ENSP00000245138:R792Q	R	-	2	0	CNOT1	57125625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.591000	0.81541	CGA		0.498	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58571116	58571116	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58571116T>C	ENST00000317147.5	-	39	5755	c.5423A>G	c.(5422-5424)cAg>cGg	p.Q1808R	CNOT1_ENST00000245138.4_Missense_Mutation_p.Q659R|CNOT1_ENST00000569240.1_Missense_Mutation_p.Q1803R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1808					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.Q1808R(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCCATCAGCTGGGGCAATCT	0.423																																					p.Q1808R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5423G	16						.						129.0	107.0	115.0					16																	58571116		2198	4300	6498	57128617	SO:0001583	missense	23019	exon39			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5423A>G	16.37:g.58571116T>C	ENSP00000320949:p.Gln1808Arg	Somatic		Capture	Illumina HiSeq	Phase_I	57128617	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313223	0.40895	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.46819	0.86	5.92	5.92	0.95590	.	0.048632	0.85682	D	0.000000	T	0.42585	0.1209	L	0.46157	1.445	0.80722	D	1	B;B;B	0.21905	0.062;0.02;0.06	B;B;B	0.26094	0.018;0.039;0.066	T	0.28106	-1.0054	10	0.15499	T	0.54	-8.6759	14.9341	0.70938	0.0:0.0:0.0:1.0	.	659;1808;1803	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	1808;659;1803	ENSP00000320949:Q1808R	ENSP00000245138:Q659R	Q	-	2	0	CNOT1	57128617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	CAG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58577608	58577608	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58577608C>T	ENST00000317147.5	-	31	4669	c.4337G>A	c.(4336-4338)cGt>cAt	p.R1446H	CNOT1_ENST00000441024.2_Missense_Mutation_p.R1446H|CNOT1_ENST00000245138.4_Missense_Mutation_p.R297H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1441H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1446	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R1446H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTCAAGTTACGCATCATGTG	0.433																																					p.R1446H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4337A	16						.						154.0	124.0	134.0					16																	58577608		2198	4300	6498	57135109	SO:0001583	missense	23019	exon31			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4337G>A	16.37:g.58577608C>T	ENSP00000320949:p.Arg1446His	Somatic		Capture	Illumina HiSeq	Phase_I	57135109	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425431	0.96131	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.52983	0.67;0.64	5.3	5.3	0.74995	CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.969;0.998;0.998;0.987	T	0.77140	-0.2697	10	0.56958	D	0.05	.	18.9405	0.92604	0.0:1.0:0.0:0.0	.	297;1446;1446;1441	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	H	1446;297;1441;1446	ENSP00000320949:R1446H;ENSP00000413113:R1446H	ENSP00000245138:R297H	R	-	2	0	CNOT1	57135109	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.792000	0.85828	2.461000	0.83175	0.585000	0.79938	CGT		0.433	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58585087	58585087	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58585087C>A	ENST00000317147.5	-	24	3623	c.3291G>T	c.(3289-3291)gaG>gaT	p.E1097D	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.E1097D|CNOT1_ENST00000245138.4_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.E1092D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1097	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.E1097D(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGCAATTTTCTCCTGGATAT	0.338																																					p.E1097D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3291T	16						.						102.0	119.0	113.0					16																	58585087		2198	4300	6498	57142588	SO:0001583	missense	23019	exon24			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3291G>T	16.37:g.58585087C>A	ENSP00000320949:p.Glu1097Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57142588	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140717	0.09083	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.32988	1.45;1.43	5.39	-0.592	0.11671	.	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	N	0.01522	-0.82	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.13407	0.009;0.001;0.004	T	0.42832	-0.9428	10	0.02654	T	1	.	10.2479	0.43352	0.0:0.4917:0.0:0.5083	.	1097;1097;1092	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	D	1097;526;1092;1097	ENSP00000320949:E1097D;ENSP00000413113:E1097D	ENSP00000320949:E1097D	E	-	3	2	CNOT1	57142588	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	1.548000	0.36201	0.022000	0.15160	0.467000	0.42956	GAG		0.338	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58612840	58612840	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:58612840C>A	ENST00000317147.5	-	13	1679	c.1347G>T	c.(1345-1347)aaG>aaT	p.K449N	CNOT1_ENST00000441024.2_Missense_Mutation_p.K449N|CNOT1_ENST00000569240.1_Missense_Mutation_p.K449N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	449					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.K449N(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AATCCAAGCTCTTCCTAACGA	0.393																																					p.K449N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1347T	16						.						67.0	67.0	67.0					16																	58612840		2198	4300	6498	57170341	SO:0001583	missense	23019	exon13			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1347G>T	16.37:g.58612840C>A	ENSP00000320949:p.Lys449Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57170341	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621569	0.46736	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.40225	1.04;1.04	5.65	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	N	0.20845	0.615	0.80722	D	1	D;P;B	0.61080	0.989;0.612;0.437	D;B;B	0.75020	0.985;0.261;0.189	T	0.40979	-0.9534	9	.	.	.	-3.1372	13.677	0.62460	0.0:0.925:0.0:0.075	.	449;449;449	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	449	ENSP00000320949:K449N;ENSP00000413113:K449N	.	K	-	3	2	CNOT1	57170341	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	1.363000	0.46019	0.555000	0.69702	AAG		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CMTM1	113540	broad.mit.edu	37	16	66612813	66612813	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:66612813G>T	ENST00000457188.2	+	4	540	c.419G>T	c.(418-420)aGa>aTa	p.R140I	CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000379500.2_Missense_Mutation_p.R257I|CMTM2_ENST00000379486.2_5'Flank|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.R86I|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Missense_Mutation_p.R41I|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000336328.6_Missense_Mutation_p.R87I|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000533953.1_Missense_Mutation_p.R209I|CMTM1_ENST00000332695.7_Missense_Mutation_p.R93I	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	140					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R87I(1)|p.R257I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AACTTGAAAAGATTCCTGGGA	0.572																																					p.R93I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G278T	16						.						158.0	140.0	146.0					16																	66612813		2201	4300	6501	65170314	SO:0001583	missense	113540	exon3			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.419G>T	16.37:g.66612813G>T	ENSP00000405729:p.Arg140Ile	Somatic		Capture	Illumina HiSeq	Phase_I	65170314	NM_181271	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819551	0.50633	.	.	ENSG00000254788;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505	ENST00000527729;ENST00000332695;ENST00000336328;ENST00000457188;ENST00000533953;ENST00000379500	T;T;T;T;T	0.51325	0.75;0.75;1.81;0.71;1.84	4.14	-8.29	0.01009	.	.	.	.	.	T	0.43188	0.1236	L	0.34521	1.04	0.09310	N	1	D;B;B;P	0.59767	0.986;0.126;0.048;0.799	P;B;B;P	0.56865	0.808;0.027;0.009;0.466	T	0.56129	-0.8030	9	0.66056	D	0.02	-0.1975	7.892	0.29684	0.1525:0.1179:0.6285:0.1011	.	257;93;87;140	Q6PEV5;Q8IZ96-5;Q8IZ96-6;Q8IZ96	.;.;.;CKLF1_HUMAN	I	86;93;87;140;209;257	ENSP00000331428:R93I;ENSP00000337119:R87I;ENSP00000405729:R140I;ENSP00000435786:R209I;ENSP00000368814:R257I	ENSP00000433998:R86I	R	+	2	0	CMTM1;CKLF-CMTM1	65170314	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.730000	0.01855	-2.200000	0.00747	-0.459000	0.05422	AGA		0.572	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	
CDH16	1014	broad.mit.edu	37	16	66950248	66950248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:66950248C>T	ENST00000299752.4	-	4	407	c.214G>A	c.(214-216)Gat>Aat	p.D72N	CDH16_ENST00000568632.1_Missense_Mutation_p.D72N|CDH16_ENST00000565796.1_Missense_Mutation_p.D72N|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.D72N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D72N(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAATCTGGATCCATAGCAAAT	0.607																																					p.D72N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	16						.						77.0	67.0	70.0					16																	66950248		2200	4300	6500	65507749	SO:0001583	missense	1014	exon4			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.214G>A	16.37:g.66950248C>T	ENSP00000299752:p.Asp72Asn	Somatic		Capture	Illumina HiSeq	Phase_I	65507749	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720341	0.48728	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.71341	-0.56;-0.56	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.119294	0.53938	D	0.000056	T	0.58566	0.2131	L	0.45228	1.405	0.50313	D	0.999865	B;P;P	0.39665	0.135;0.682;0.682	B;B;B	0.30401	0.055;0.115;0.115	T	0.62891	-0.6758	10	0.42905	T	0.14	-11.5322	13.1986	0.59754	0.0:1.0:0.0:0.0	.	72;72;72	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	N	72	ENSP00000377619:D72N;ENSP00000299752:D72N	ENSP00000299752:D72N	D	-	1	0	CDH16	65507749	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.078000	0.57606	2.502000	0.84385	0.609000	0.83330	GAT		0.607	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
CES3	23491	broad.mit.edu	37	16	67006322	67006322	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67006322A>C	ENST00000303334.4	+	11	1426	c.1355A>C	c.(1354-1356)aAa>aCa	p.K452T	CES3_ENST00000394037.1_Missense_Mutation_p.K452T|CES3_ENST00000543856.1_Missense_Mutation_p.K91T	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	452						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.K452T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCGAAGATCAAACCTGCCTGG	0.537																																					p.K452T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1355C	16						.						216.0	214.0	215.0					16																	67006322		2200	4300	6500	65563823	SO:0001583	missense	23491	exon11			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1355A>C	16.37:g.67006322A>C	ENSP00000304782:p.Lys452Thr	Somatic		Capture	Illumina HiSeq	Phase_I	65563823	NM_001185177	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732880	0.48939	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.08896	3.04;3.04;3.04	5.13	2.89	0.33648	Carboxylesterase, type B (1);	0.185851	0.26159	N	0.025985	T	0.13243	0.0321	M	0.64080	1.96	0.29995	N	0.81658	P;P	0.36837	0.566;0.571	B;B	0.42959	0.193;0.403	T	0.02789	-1.1110	10	0.87932	D	0	.	9.5527	0.39319	0.8867:0.0:0.1133:0.0	.	91;452	F5H242;Q6UWW8	.;EST3_HUMAN	T	452;452;91	ENSP00000304782:K452T;ENSP00000377602:K452T;ENSP00000445559:K91T	ENSP00000304782:K452T	K	+	2	0	CES3	65563823	0.994000	0.37717	0.193000	0.23327	0.166000	0.22503	2.108000	0.41854	0.305000	0.22832	0.472000	0.43445	AAA		0.537	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922	
C16orf70	80262	broad.mit.edu	37	16	67165194	67165194	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67165194C>T	ENST00000219139.3	+	4	425	c.237C>T	c.(235-237)atC>atT	p.I79I	C16orf70_ENST00000569600.1_Silent_p.I79I|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	79								p.I79I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTTAGGTGATCGAAGTATGTG	0.289																																					p.I79I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	16						.						83.0	79.0	80.0					16																	67165194		2198	4299	6497	65722695	SO:0001819	synonymous_variant	80262	exon4			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.237C>T	16.37:g.67165194C>T		Somatic		Capture	Illumina HiSeq	Phase_I	65722695	NM_025187	Q9HA86	Silent	SNP	ENST00000219139.3	37	CCDS10828.1																																																																																				0.289	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
PLEKHG4	25894	broad.mit.edu	37	16	67314128	67314128	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67314128C>A	ENST00000360461.5	+	1	2716	c.181C>A	c.(181-183)Cta>Ata	p.L61I	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.L61I|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.L61I|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.L61I	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	61							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L61I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGATGAGGAGCTACAGGGCAG	0.602																																					p.L61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	16						.						54.0	58.0	56.0					16																	67314128		2198	4300	6498	65871629	SO:0001583	missense	25894	exon3			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.181C>A	16.37:g.67314128C>A	ENSP00000353646:p.Leu61Ile	Somatic		Capture	Illumina HiSeq	Phase_I	65871629	NM_001129727	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784337	0.31593	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	T;T;T;T	0.15017	2.46;2.46;2.46;2.72	3.96	-1.13	0.09775	.	0.490245	0.13306	U	0.397876	T	0.12050	0.0293	L	0.50333	1.59	0.09310	N	1	B;B	0.29162	0.009;0.235	B;B	0.25405	0.005;0.06	T	0.21415	-1.0246	10	0.40728	T	0.16	.	3.4782	0.07593	0.1798:0.4604:0.0:0.3599	.	61;61	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	I	61	ENSP00000353646:L61I;ENSP00000401118:L61I;ENSP00000368649:L61I;ENSP00000398030:L61I	ENSP00000353646:L61I	L	+	1	2	PLEKHG4	65871629	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.876000	0.04201	-0.076000	0.12775	-0.313000	0.08912	CTA		0.602	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432	
PLEKHG4	25894	broad.mit.edu	37	16	67321807	67321807	+	Missense_Mutation	SNP	G	G	A	rs191031450		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67321807G>A	ENST00000360461.5	+	18	5645	c.3110G>A	c.(3109-3111)cGc>cAc	p.R1037H	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R956H|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R1037H|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R1037H	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1037							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1037H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCAGAGGTGCGCATGGCTGAG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20355	0.001		0.0	False		,,,				2504	0.0				p.R1037H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3110A	16						.						126.0	93.0	104.0					16																	67321807		2198	4300	6498	65879308	SO:0001583	missense	25894	exon20			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3110G>A	16.37:g.67321807G>A	ENSP00000353646:p.Arg1037His	Somatic		Capture	Illumina HiSeq	Phase_I	65879308	NM_001129727	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.286958	0.95517	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.05	5.05	0.67936	Pleckstrin homology-type (1);	.	.	.	.	T	0.64170	0.2574	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73534	-0.3952	9	0.87932	D	0	.	15.5702	0.76330	0.0:0.0:1.0:0.0	.	956;1037	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	H	1037;1037;1037;956	ENSP00000353646:R1037H;ENSP00000401118:R1037H;ENSP00000368649:R1037H;ENSP00000398030:R956H	ENSP00000353646:R1037H	R	+	2	0	PLEKHG4	65879308	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.190000	0.94934	2.353000	0.79882	0.462000	0.41574	CGC		0.567	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432	
KCTD19	146212	broad.mit.edu	37	16	67333454	67333454	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67333454A>C	ENST00000304372.5	-	6	853	c.798T>G	c.(796-798)tgT>tgG	p.C266W	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	266					protein homooligomerization (GO:0051260)			p.C266W(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCAGGGGAGAACAGGTGGTCG	0.627																																					p.C266W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T798G	16						.						49.0	56.0	54.0					16																	67333454		1887	4109	5996	65890955	SO:0001583	missense	146212	exon6			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.798T>G	16.37:g.67333454A>C	ENSP00000305702:p.Cys266Trp	Somatic		Capture	Illumina HiSeq	Phase_I	65890955	NM_001100915	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286818	0.59867	.	.	ENSG00000168676	ENST00000304372	T	0.59364	0.27	5.77	-0.485	0.12067	.	0.082787	0.53938	D	0.000054	T	0.50803	0.1637	N	0.14661	0.345	0.47511	D	0.999447	D	0.69078	0.997	P	0.61477	0.889	T	0.51442	-0.8705	10	0.72032	D	0.01	-12.903	8.9345	0.35691	0.5659:0.0:0.4341:0.0	.	266	Q17RG1	KCD19_HUMAN	W	266	ENSP00000305702:C266W	ENSP00000305702:C266W	C	-	3	2	KCTD19	65890955	0.998000	0.40836	0.991000	0.47740	0.667000	0.39255	0.713000	0.25794	-0.060000	0.13132	0.533000	0.62120	TGT		0.627	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
KCTD19	146212	broad.mit.edu	37	16	67354714	67354714	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67354714A>G	ENST00000304372.5	-	2	133	c.78T>C	c.(76-78)gtT>gtC	p.V26V	RN7SKP118_ENST00000364331.1_RNA|KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	26	BTB 1.				protein homooligomerization (GO:0051260)			p.V26V(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGCTTCTGGGAACTGAGAAAT	0.483																																					p.V26V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T78C	16						.						87.0	83.0	84.0					16																	67354714		1881	4118	5999	65912215	SO:0001819	synonymous_variant	146212	exon2			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.78T>C	16.37:g.67354714A>G		Somatic		Capture	Illumina HiSeq	Phase_I	65912215	NM_001100915	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																				0.483	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
TPPP3	51673	broad.mit.edu	37	16	67424212	67424212	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67424212C>T	ENST00000564104.1	-	3	1237	c.396G>A	c.(394-396)acG>acA	p.T132T	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000562206.1_Silent_p.T132T|TPPP3_ENST00000290942.5_Silent_p.T132T|TPPP3_ENST00000393957.2_Silent_p.T132T			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	132					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)	p.T132T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TGTGGGAGCCCGTGTATCTGC	0.607																																					p.T132T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	16						.						130.0	115.0	120.0					16																	67424212		2198	4300	6498	65981713	SO:0001819	synonymous_variant	51673	exon5			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.396G>A	16.37:g.67424212C>T		Somatic		Capture	Illumina HiSeq	Phase_I	65981713	NM_016140	Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	CCDS10835.1																																																																																				0.607	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964	
CTCF	10664	broad.mit.edu	37	16	67650729	67650729	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67650729A>G	ENST00000264010.4	+	5	1478	c.1034A>G	c.(1033-1035)cAc>cGc	p.H345R	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.H17R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	345			H -> R (in a prostate tumor). {ECO:0000269|PubMed:11782357}.		chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H345R(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGTTACAAACACACCCACGAG	0.483																																					p.H345R	Colon(175;1200 1966 6945 23069 27405)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1034G	16						.						337.0	275.0	296.0					16																	67650729		2198	4300	6498	66208230	SO:0001583	missense	10664	exon5			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1034A>G	16.37:g.67650729A>G	ENSP00000264010:p.His345Arg	Somatic		Capture	Illumina HiSeq	Phase_I	66208230	NM_006565	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566559	0.65651	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.67523	-0.27;-0.27	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.159807	0.43110	D	0.000608	D	0.85771	0.5774	M	0.93550	3.43	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.89666	0.3880	10	0.87932	D	0	.	14.7281	0.69360	1.0:0.0:0.0:0.0	.	345	P49711	CTCF_HUMAN	R	345;17	ENSP00000264010:H345R;ENSP00000384707:H17R	ENSP00000264010:H345R	H	+	2	0	CTCF	66208230	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.895000	0.92512	2.065000	0.61736	0.456000	0.33151	CAC		0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
ENKD1	84080	broad.mit.edu	37	16	67697098	67697098	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67697098G>T	ENST00000243878.4	-	7	1328	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_3'UTR|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	336	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)		p.S336Y(1)									TTTGGGCCGAGAAAAGATCTT	0.597																																					p.S336Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1007A	16						.						91.0	76.0	81.0					16																	67697098		2198	4300	6498	66254599	SO:0001583	missense	84080	exon7			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.1007C>A	16.37:g.67697098G>T	ENSP00000243878:p.Ser336Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	66254599	NM_032140	Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463296	0.84425	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85965	0.1473	9	0.72032	D	0.01	-0.0033	18.7283	0.91724	0.0:0.0:1.0:0.0	.	336;218	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	Y	336	.	ENSP00000243878:S336Y	S	-	2	0	C16orf48	66254599	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	8.651000	0.91078	2.516000	0.84829	0.561000	0.74099	TCT		0.597	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140	
THAP11	57215	broad.mit.edu	37	16	67877233	67877233	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67877233G>A	ENST00000303596.1	+	1	1021	c.776G>A	c.(775-777)cGc>cAc	p.R259H	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R259H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GAGCTCCTGCGCAAGCTGAAT	0.587																																					p.R259H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	16						.						151.0	157.0	155.0					16																	67877233		2198	4300	6498	66434734	SO:0001583	missense	57215	exon1			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.776G>A	16.37:g.67877233G>A	ENSP00000304689:p.Arg259His	Somatic		Capture	Illumina HiSeq	Phase_I	66434734	NM_020457	A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114693	0.94339	.	.	ENSG00000168286	ENST00000303596	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70479	-0.4860	9	0.87932	D	0	-11.8452	19.7449	0.96248	0.0:0.0:1.0:0.0	.	259	Q96EK4	THA11_HUMAN	H	259	.	ENSP00000304689:R259H	R	+	2	0	THAP11	66434734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.324000	0.79115	2.768000	0.95171	0.609000	0.83330	CGC		0.587	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457	
NFATC3	4775	broad.mit.edu	37	16	68200795	68200795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68200795C>T	ENST00000346183.3	+	5	1675	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	NFATC3_ENST00000575270.1_Nonsense_Mutation_p.R551*|NFATC3_ENST00000349223.5_Nonsense_Mutation_p.R551*|NFATC3_ENST00000329524.4_Nonsense_Mutation_p.R551*|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	551	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R551*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TATAGAACTTCGAAAAGGAGA	0.343																																					p.R551X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1651T	16						.						101.0	95.0	97.0					16																	68200795		2198	4300	6498	66758296	SO:0001587	stop_gained	4775	exon5			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1651C>T	16.37:g.68200795C>T	ENSP00000300659:p.Arg551*	Somatic		Capture	Illumina HiSeq	Phase_I	66758296	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Nonsense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158083	0.94686	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.328	14.5994	0.68429	0.1458:0.8542:0.0:0.0	.	.	.	.	X	551;551;551;72	.	ENSP00000331324:R551X	R	+	1	2	NFATC3	66758296	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.600000	0.61083	2.748000	0.94277	0.655000	0.94253	CGA		0.343	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
NFATC3	4775	broad.mit.edu	37	16	68225433	68225433	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68225433C>A	ENST00000346183.3	+	9	2885	c.2861C>A	c.(2860-2862)tCt>tAt	p.S954Y	NFATC3_ENST00000575270.1_Missense_Mutation_p.S954Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.S954Y|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.S954Y|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	954					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S954Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTTACCAATCTCCTAGCTCA	0.552																																					p.S954Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2861A	16						.						92.0	90.0	91.0					16																	68225433		2198	4300	6498	66782934	SO:0001583	missense	4775	exon9			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2861C>A	16.37:g.68225433C>A	ENSP00000300659:p.Ser954Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	66782934	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295393	0.60086	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.13089	2.63;2.84;2.62	5.49	4.51	0.55191	.	0.364347	0.29002	N	0.013446	T	0.18425	0.0442	L	0.34521	1.04	0.43703	D	0.996165	P;P;P;P	0.52692	0.924;0.955;0.828;0.828	B;P;B;B	0.52957	0.34;0.714;0.34;0.34	T	0.00970	-1.1496	10	0.87932	D	0	-3.5445	11.0699	0.47997	0.145:0.7155:0.1396:0.0	.	954;954;954;954	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	954;954;954;475	ENSP00000264008:S954Y;ENSP00000300659:S954Y;ENSP00000331324:S954Y	ENSP00000331324:S954Y	S	+	2	0	NFATC3	66782934	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.353000	0.59411	1.244000	0.43870	0.555000	0.69702	TCT		0.552	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
ESRP2	80004	broad.mit.edu	37	16	68266159	68266159	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68266159C>A	ENST00000565858.1	-	9	1103	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	ESRP2_ENST00000473183.2_Missense_Mutation_p.K329N	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	339	RRM 1.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K329N(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCCCTGCAATCTTTACAAACT	0.582																																					p.K329N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G987T	16						.						171.0	162.0	165.0					16																	68266159		2198	4300	6498	66823660	SO:0001583	missense	80004	exon9			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1017G>T	16.37:g.68266159C>A	ENSP00000454554:p.Lys339Asn	Somatic		Capture	Illumina HiSeq	Phase_I	66823660	NM_024939	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	C	15.63	2.888948	0.52014	.	.	ENSG00000103067	ENST00000473183	T	0.29917	1.55	5.58	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.31578	0.945	0.58432	D	0.999998	D;P	0.60160	0.987;0.562	P;B	0.58172	0.834;0.236	T	0.05419	-1.0886	10	0.36615	T	0.2	-19.4449	8.4883	0.33084	0.0:0.8245:0.0:0.1755	.	339;329	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	N	329	ENSP00000418748:K329N	ENSP00000418748:K329N	K	-	3	2	ESRP2	66823660	0.996000	0.38824	1.000000	0.80357	0.963000	0.63663	0.768000	0.26590	1.357000	0.45904	0.491000	0.48974	AAG		0.582	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	
PRMT7	54496	broad.mit.edu	37	16	68358587	68358587	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68358587A>G	ENST00000339507.5	+	5	964	c.134A>G	c.(133-135)aAt>aGt	p.N45S	PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000348497.4_Splice_Site_p.N45S|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	45	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.N45S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTTCCTTAGAATGTAAAATAC	0.498																																					p.N45S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134G	16						.						83.0	73.0	76.0					16																	68358587		2198	4300	6498	66916088	SO:0001630	splice_region_variant	54496	exon5			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.133-1A>G	16.37:g.68358587A>G		Somatic		Capture	Illumina HiSeq	Phase_I	66916088	NM_019023	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408702	0.62399	.	.	ENSG00000132600	ENST00000348497;ENST00000339507	T;T	0.21361	2.01;2.01	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.84511	2.7	0.35639	D	0.810799	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66156	-0.5994	10	0.59425	D	0.04	-23.3586	13.0779	0.59097	1.0:0.0:0.0:0.0	.	45;45	Q9NVM4;Q9NVM4-4	ANM7_HUMAN;.	S	45	ENSP00000345775:N45S;ENSP00000343103:N45S	ENSP00000343103:N45S	N	+	2	0	PRMT7	66916088	1.000000	0.71417	0.982000	0.44146	0.071000	0.16799	9.216000	0.95154	1.972000	0.57404	0.477000	0.44152	AAT		0.498	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023	Missense_Mutation
ZFP90	146198	broad.mit.edu	37	16	68597190	68597190	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68597190A>G	ENST00000570495.1	+	5	792	c.500A>G	c.(499-501)aAc>aGc	p.N167S	ZFP90_ENST00000398253.2_Missense_Mutation_p.N167S|ZFP90_ENST00000563169.2_Missense_Mutation_p.N167S			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	167					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.N167S(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TCTAGATTGAACACCAATTTG	0.373																																					p.N167S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A500G	16						.						77.0	73.0	74.0					16																	68597190		1818	4085	5903	67154691	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.500A>G	16.37:g.68597190A>G	ENSP00000460547:p.Asn167Ser	Somatic		Capture	Illumina HiSeq	Phase_I	67154691	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	0.765	-0.768029	0.02974	.	.	ENSG00000184939	ENST00000398253	T	0.04156	3.69	6.06	-0.522	0.11928	.	.	.	.	.	T	0.01800	0.0057	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47058	-0.9146	9	0.02654	T	1	-3.4675	5.1731	0.15120	0.5686:0.0:0.3051:0.1264	.	167	Q8TF47	ZFP90_HUMAN	S	167	ENSP00000381304:N167S	ENSP00000381304:N167S	N	+	2	0	ZFP90	67154691	0.000000	0.05858	0.115000	0.21578	0.281000	0.26958	-0.247000	0.08866	-0.024000	0.13941	0.533000	0.62120	AAC		0.373	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
CDH3	1001	broad.mit.edu	37	16	68729808	68729808	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68729808C>T	ENST00000264012.4	+	15	2806	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	CDH3_ENST00000581171.1_Silent_p.I699I|CDH3_ENST00000429102.2_Silent_p.I754I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	754					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I754I(2)|p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAGATGAAATCGGCAACTTTA	0.592																																					p.I754I												.	.	4	Unknown(2)|Substitution - coding silent(2)	large_intestine(2)|breast(2)	c.C2262T	16						.						69.0	50.0	56.0					16																	68729808		2198	4300	6498	67287309	SO:0001819	synonymous_variant	1001	exon15			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2262C>T	16.37:g.68729808C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67287309	NM_001793	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	CCDS10868.1																																																																																				0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
TANGO6	79613	broad.mit.edu	37	16	68914505	68914505	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:68914505T>A	ENST00000261778.1	+	7	1361	c.1349T>A	c.(1348-1350)cTt>cAt	p.L450H		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	450						integral component of membrane (GO:0016021)		p.L450H(1)									GAAGAAGAACTTAGTAGATGC	0.299																																					p.L450H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1349A	16						.						200.0	188.0	192.0					16																	68914505		1837	4092	5929	67472006	SO:0001583	missense	79613	exon7				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1349T>A	16.37:g.68914505T>A	ENSP00000261778:p.Leu450His	Somatic		Capture	Illumina HiSeq	Phase_I	67472006	NM_024562	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028553	0.75390	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	T	0.77301	0.4110	M	0.72894	2.215	0.45580	D	0.99852	D	0.89917	1.0	D	0.87578	0.998	T	0.80027	-0.1554	8	0.87932	D	0	-5.7241	12.9949	0.58640	0.0:0.0:0.0:1.0	.	450	Q9C0B7	TMCO7_HUMAN	H	450	.	ENSP00000261778:L450H	L	+	2	0	TMCO7	67472006	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.584000	0.60971	2.053000	0.61076	0.533000	0.62120	CTT		0.299	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582																																					p.R330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	16						.						65.0	61.0	63.0					16																	69148496		2198	4300	6498	67705997	SO:0001583	missense	3038	exon4			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.989G>A	16.37:g.69148496G>A	ENSP00000304440:p.Arg330Gln	Somatic		Capture	Illumina HiSeq	Phase_I	67705997	NM_005329	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977595	0.34848	.	.	ENSG00000103044	ENST00000306560	T	0.62232	0.04	6.07	2.63	0.31362	.	0.165142	0.52532	N	0.000068	T	0.63686	0.2532	M	0.86028	2.79	0.28693	N	0.904517	B	0.09022	0.002	B	0.06405	0.002	T	0.61113	-0.7128	10	0.40728	T	0.16	-12.7238	12.0982	0.53767	0.2252:0.0:0.7748:0.0	.	330	O00219	HAS3_HUMAN	Q	330	ENSP00000304440:R330Q	ENSP00000304440:R330Q	R	+	2	0	HAS3	67705997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	0.894000	0.36317	0.655000	0.94253	CGA		0.582	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612	
CIRH1A	84916	broad.mit.edu	37	16	69184516	69184516	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69184516G>T	ENST00000314423.7	+	7	992	c.815G>T	c.(814-816)aGc>aTc	p.S272I	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.S272I|CIRH1A_ENST00000563094.1_Missense_Mutation_p.S272I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	272					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.S272I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACATCTAACAGCAGTGAGAAG	0.542											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S272I	Melanoma(69;1156 1278 4951 8715 52012)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G815T	16						.						136.0	123.0	128.0					16																	69184516		2198	4300	6498	67742017	SO:0001583	missense	84916	exon7			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.815G>T	16.37:g.69184516G>T	ENSP00000327179:p.Ser272Ile	Somatic	1112	Capture	Illumina HiSeq	Phase_I	67742017	NM_032830	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768679	0.49680	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.35048	1.33;1.33	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.386719	0.36134	N	0.002768	T	0.41213	0.1149	L	0.50333	1.59	0.36066	D	0.841779	P;B;P	0.48640	0.913;0.16;0.834	P;B;B	0.50082	0.63;0.014;0.242	T	0.49551	-0.8928	10	0.45353	T	0.12	.	10.2784	0.43523	0.1472:0.0:0.8528:0.0	.	272;272;272	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	I	272	ENSP00000327179:S272I;ENSP00000339164:S272I	ENSP00000327179:S272I	S	+	2	0	CIRH1A	67742017	0.814000	0.29104	1.000000	0.80357	0.888000	0.51559	3.955000	0.56715	2.777000	0.95525	0.508000	0.49915	AGC		0.542	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830	
COG8	84342	broad.mit.edu	37	16	69369012	69369012	+	Silent	SNP	G	G	A	rs147094162		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69369012G>A	ENST00000306875.4	-	3	939	c.825C>T	c.(823-825)atC>atT	p.I275I	RP11-343C2.9_ENST00000563634.1_Silent_p.I150I|RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Silent_p.I275I	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	275					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.I275I(1)		breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGGAGGCCTCGATGGTTTTTG	0.527																																					p.I275I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	16						.	G		0,4396		0,0,2198	84.0	71.0	75.0		825	-7.3	0.8	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COG8	NM_032382.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		275/613	69369012	1,12995	2198	4300	6498	67926513	SO:0001819	synonymous_variant	84342	exon3			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.825C>T	16.37:g.69369012G>A		Somatic		Capture	Illumina HiSeq	Phase_I	67926513	NM_032382	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	CCDS10876.1																																																																																				0.527	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382	
COG8	84342	broad.mit.edu	37	16	69370542	69370542	+	Nonsense_Mutation	SNP	C	C	A	rs200225054		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69370542C>A	ENST00000306875.4	-	2	565	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	RP11-343C2.9_ENST00000563634.1_Nonsense_Mutation_p.E26*|RP11-343C2.7_ENST00000564737.1_3'UTR|NIP7_ENST00000569637.2_5'Flank|RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Nonsense_Mutation_p.E151*|NIP7_ENST00000254940.5_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	151					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E151*(1)		breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCCAAAATTTCTGTGTGCCGG	0.488																																					p.E151X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G451T	16						.						112.0	104.0	107.0					16																	69370542		2198	4300	6498	67928043	SO:0001587	stop_gained	84342	exon2			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.451G>T	16.37:g.69370542C>A	ENSP00000305459:p.Glu151*	Somatic		Capture	Illumina HiSeq	Phase_I	67928043	NM_032382	Q0VAK2|Q8WVV6|Q9H6F8	Nonsense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	39	7.300401	0.98196	.	.	ENSG00000213380	ENST00000306875	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.7112	20.0235	0.97511	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000305459:E151X	E	-	1	0	COG8	67928043	1.000000	0.71417	0.974000	0.42286	0.789000	0.44602	7.431000	0.80335	2.727000	0.93392	0.563000	0.77884	GAA		0.488	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382	
NIP7	51388	broad.mit.edu	37	16	69375101	69375101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69375101C>T	ENST00000254940.5	+	4	701	c.301C>T	c.(301-303)Cct>Tct	p.P101S	RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000306875.4_5'Flank|NIP7_ENST00000254941.6_Intron|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000562081.1_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	101	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P101S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				TTGGATAAAGCCTGGTGCAGA	0.418																																					p.P101S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	16						.						93.0	90.0	91.0					16																	69375101		2198	4300	6498	67932602	SO:0001583	missense	51388	exon4			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.301C>T	16.37:g.69375101C>T	ENSP00000254940:p.Pro101Ser	Somatic		Capture	Illumina HiSeq	Phase_I	67932602	NM_016101	B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682681	0.47991	.	.	ENSG00000132603	ENST00000254940	.	.	.	5.53	5.53	0.82687	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.79926	2.475	0.80722	D	1	P	0.37441	0.595	B	0.39217	0.294	T	0.71279	-0.4640	9	0.44086	T	0.13	-12.6955	19.4703	0.94961	0.0:1.0:0.0:0.0	.	101	Q9Y221	NIP7_HUMAN	S	101	.	ENSP00000254940:P101S	P	+	1	0	NIP7	67932602	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	4.636000	0.61339	2.600000	0.87896	0.561000	0.74099	CCT		0.418	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101	
NFAT5	10725	broad.mit.edu	37	16	69703926	69703926	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69703926C>A	ENST00000354436.2	+	7	1680	c.1362C>A	c.(1360-1362)agC>agA	p.S454R	NFAT5_ENST00000349945.1_Missense_Mutation_p.S378R|NFAT5_ENST00000393742.2_Missense_Mutation_p.S378R|NFAT5_ENST00000566899.1_Missense_Mutation_p.S378R|NFAT5_ENST00000567239.1_Missense_Mutation_p.S472R|NFAT5_ENST00000432919.1_Missense_Mutation_p.S472R	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	454					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S472R(1)|p.S378R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTTGCATAGCTGTTCAGTGA	0.368																																					p.S378R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1134A	16						.						55.0	57.0	56.0					16																	69703926		2198	4300	6498	68261427	SO:0001583	missense	10725	exon9			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1362C>A	16.37:g.69703926C>A	ENSP00000346420:p.Ser454Arg	Somatic		Capture	Illumina HiSeq	Phase_I	68261427	NM_138714	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584808	0.65992	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.18	2.86	0.33363	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;P;D	0.79784	0.985;0.989;0.729;0.993	T	0.57106	-0.7868	10	0.52906	T	0.07	-0.0019	10.0458	0.42186	0.0:0.7562:0.0:0.2438	.	472;454;472;378	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	R	472;472;378;454;378	ENSP00000396538:S472R;ENSP00000338806:S378R;ENSP00000346420:S454R;ENSP00000377343:S378R	ENSP00000338806:S378R	S	+	3	2	NFAT5	68261427	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.483000	0.22292	1.169000	0.42739	0.585000	0.79938	AGC		0.368	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
NFAT5	10725	broad.mit.edu	37	16	69726360	69726360	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69726360T>G	ENST00000354436.2	+	12	2896	c.2578T>G	c.(2578-2580)Tta>Gta	p.L860V	NFAT5_ENST00000349945.1_Missense_Mutation_p.L784V|NFAT5_ENST00000393742.2_Missense_Mutation_p.L784V|NFAT5_ENST00000566899.1_Missense_Mutation_p.L784V|NFAT5_ENST00000567239.1_Missense_Mutation_p.L877V|NFAT5_ENST00000432919.1_Missense_Mutation_p.L878V	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	860					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L878V(1)|p.L784V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACCAGATAATTTATTACCTGG	0.423																																					p.L784V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2350G	16						.						82.0	82.0	82.0					16																	69726360		2198	4300	6498	68283861	SO:0001583	missense	10725	exon14			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2578T>G	16.37:g.69726360T>G	ENSP00000346420:p.Leu860Val	Somatic		Capture	Illumina HiSeq	Phase_I	68283861	NM_138714	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877399	0.17395	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.54479	0.7;0.57;0.7;0.57	5.69	3.44	0.39384	.	0.112588	0.37761	N	0.001941	T	0.34135	0.0887	L	0.41236	1.265	0.37177	D	0.903293	B;B;B	0.28512	0.214;0.214;0.214	B;B;B	0.20767	0.031;0.031;0.031	T	0.20840	-1.0263	10	0.21540	T	0.41	-2.6289	3.6014	0.08026	0.0:0.2575:0.1932:0.5493	.	877;860;878	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	V	878;877;784;860;784	ENSP00000396538:L878V;ENSP00000338806:L784V;ENSP00000346420:L860V;ENSP00000377343:L784V	ENSP00000338806:L784V	L	+	1	2	NFAT5	68283861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.191000	0.32138	1.082000	0.41137	0.533000	0.62120	TTA		0.423	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
NFAT5	10725	broad.mit.edu	37	16	69726589	69726589	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69726589C>T	ENST00000354436.2	+	12	3125	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	NFAT5_ENST00000349945.1_Missense_Mutation_p.S860F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S860F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S860F|NFAT5_ENST00000567239.1_Missense_Mutation_p.S953F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S954F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	936					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S954F(1)|p.S860F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCAGACTTCTCACATGATG	0.438																																					p.S860F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2579T	16						.						118.0	105.0	109.0					16																	69726589		2198	4300	6498	68284090	SO:0001583	missense	10725	exon14			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2807C>T	16.37:g.69726589C>T	ENSP00000346420:p.Ser936Phe	Somatic		Capture	Illumina HiSeq	Phase_I	68284090	NM_138714	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014887	0.54468	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.49	5.49	0.81192	.	0.439500	0.26220	N	0.025632	T	0.66819	0.2828	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.995	D;D;D	0.78314	0.991;0.986;0.986	T	0.63296	-0.6669	10	0.41790	T	0.15	-2.6242	19.7404	0.96228	0.0:1.0:0.0:0.0	.	953;936;954	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	954;953;860;936;860	ENSP00000396538:S954F;ENSP00000338806:S860F;ENSP00000346420:S936F;ENSP00000377343:S860F	ENSP00000338806:S860F	S	+	2	0	NFAT5	68284090	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	5.317000	0.65822	2.734000	0.93682	0.655000	0.94253	TCT		0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
NFAT5	10725	broad.mit.edu	37	16	69727586	69727586	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69727586T>G	ENST00000354436.2	+	12	4122	c.3804T>G	c.(3802-3804)atT>atG	p.I1268M	NFAT5_ENST00000567239.1_Missense_Mutation_p.I1285M|NFAT5_ENST00000349945.1_Missense_Mutation_p.I1192M|NFAT5_ENST00000432919.1_Missense_Mutation_p.I1286M|NFAT5_ENST00000566899.1_Missense_Mutation_p.I1192M|NFAT5_ENST00000393742.2_Missense_Mutation_p.I1192M	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1268					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1192M(1)|p.I1286M(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						aacagAGCATTTTATTCAGTA	0.458																																					p.I1192M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3576G	16						.						63.0	56.0	58.0					16																	69727586		2198	4300	6498	68285087	SO:0001583	missense	10725	exon14			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3804T>G	16.37:g.69727586T>G	ENSP00000346420:p.Ile1268Met	Somatic		Capture	Illumina HiSeq	Phase_I	68285087	NM_138714	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	3.273	-0.148765	0.06627	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.47177	0.88;0.85;0.85;0.85	5.58	0.415	0.16411	.	55.329400	0.00166	N	0.000000	T	0.36826	0.0981	L	0.29908	0.895	0.34928	D	0.749109	B;B;B	0.15930	0.015;0.015;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.12116	-1.0560	10	0.29301	T	0.29	-0.3579	6.9799	0.24698	0.0:0.2135:0.4388:0.3477	.	1285;1268;1286	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	M	1286;1285;1192;1268;1192	ENSP00000396538:I1286M;ENSP00000338806:I1192M;ENSP00000346420:I1268M;ENSP00000377343:I1192M	ENSP00000338806:I1192M	I	+	3	3	NFAT5	68285087	1.000000	0.71417	0.995000	0.50966	0.743000	0.42351	0.824000	0.27379	-0.209000	0.10156	0.454000	0.30748	ATT		0.458	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
WWP2	11060	broad.mit.edu	37	16	69951778	69951778	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69951778C>A	ENST00000359154.2	+	10	1272	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	WWP2_ENST00000356003.2_Missense_Mutation_p.L391I|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.L391I|WWP2_ENST00000542271.1_Missense_Mutation_p.L275I	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	391					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.L391I(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAAGATTCCTCTACCAGGT	0.632																																					p.L391I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171A	16						.						49.0	45.0	47.0					16																	69951778		2198	4300	6498	68509279	SO:0001583	missense	11060	exon11			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1171C>A	16.37:g.69951778C>A	ENSP00000352069:p.Leu391Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68509279	NM_007014	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296738	0.81025	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.33654	1.42;1.42;1.42;1.4	5.72	4.78	0.61160	.	0.059929	0.64402	D	0.000002	T	0.51363	0.1670	L	0.46741	1.465	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.47086	-0.9144	9	.	.	.	.	14.6817	0.69023	0.0:0.9308:0.0:0.0692	.	391	O00308	WWP2_HUMAN	I	391;391;391;278;275	ENSP00000352069:L391I;ENSP00000396871:L391I;ENSP00000348283:L391I;ENSP00000445616:L275I	.	L	+	1	0	WWP2	68509279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.966000	0.63715	1.421000	0.47157	0.655000	0.94253	CTC		0.632	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
WWP2	11060	broad.mit.edu	37	16	69965756	69965756	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69965756C>T	ENST00000359154.2	+	16	1746	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	WWP2_ENST00000568684.1_Missense_Mutation_p.R110C|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000356003.2_Missense_Mutation_p.R549C|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.R549C|WWP2_ENST00000542271.1_Missense_Mutation_p.R433C	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	549	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.R549C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCATCATGCGTGGCGAGGA	0.617																																					p.R110C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328T	16						.						97.0	102.0	101.0					16																	69965756		2198	4300	6498	68523257	SO:0001583	missense	11060	exon6			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1645C>T	16.37:g.69965756C>T	ENSP00000352069:p.Arg549Cys	Somatic		Capture	Illumina HiSeq	Phase_I	68523257	NM_199424	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609545	0.87258	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.27	5.27	0.74061	HECT (3);	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.63381	0.914	T	0.64141	-0.6477	9	.	.	.	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	549	O00308	WWP2_HUMAN	C	549;110;549;549;436;433	ENSP00000352069:R549C;ENSP00000396871:R549C;ENSP00000348283:R549C;ENSP00000445616:R433C	.	R	+	1	0	WWP2	68523257	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.018000	0.64054	2.619000	0.88677	0.561000	0.74099	CGT		0.617	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
WWP2	11060	broad.mit.edu	37	16	69971486	69971486	+	Silent	SNP	C	C	T	rs148940139		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:69971486C>T	ENST00000359154.2	+	21	2375	c.2274C>T	c.(2272-2274)agC>agT	p.S758S	WWP2_ENST00000568684.1_Silent_p.S319S|WWP2_ENST00000356003.2_Silent_p.S758S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.S758S|WWP2_ENST00000542271.1_Silent_p.S642S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	758	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S758S(2)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGACATGAGCGACTGGCAGA	0.637																																					p.S319S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C957T	16						.	C	,	1,4395		0,1,2197	100.0	83.0	89.0		2274,957	-3.8	1.0	16	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	758/871,319/432	69971486	1,12995	2198	4300	6498	68528987	SO:0001819	synonymous_variant	11060	exon11			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2274C>T	16.37:g.69971486C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68528987	NM_199424	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979464	0.18812	2.27E-4	0.0	ENSG00000198373	ENST00000545099	.	.	.	5.42	-3.85	0.04243	.	.	.	.	.	T	0.51568	0.1682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	.	8.8107	0.34965	0.105:0.3038:0.0:0.5912	.	.	.	.	V	318	.	.	A	+	2	0	WWP2	68528987	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	-1.785000	0.01767	-0.471000	0.06891	-0.258000	0.10820	GCG		0.637	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
PDPR	55066	broad.mit.edu	37	16	70172891	70172891	+	Missense_Mutation	SNP	G	G	A	rs367606262	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70172891G>A	ENST00000288050.4	+	11	2237	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PDPR_ENST00000568530.1_Missense_Mutation_p.R427H|PDPR_ENST00000398122.3_Missense_Mutation_p.R327H|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	427					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.R427H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CAGAGCAGCCGCACCTTTCTG	0.507																																					p.R427H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280A	16						.						19.0	20.0	19.0					16																	70172891		1795	4038	5833	68730392	SO:0001583	missense	55066	exon11				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1280G>A	16.37:g.70172891G>A	ENSP00000288050:p.Arg427His	Somatic		Capture	Illumina HiSeq	Phase_I	68730392	NM_017990	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053794	0.75960	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.85773	-2.03;-2.03	4.42	4.42	0.53409	.	0.119515	0.64402	D	0.000017	D	0.86892	0.6042	L	0.58583	1.82	0.80722	D	1	D;P	0.65815	0.995;0.789	P;B	0.51135	0.66;0.042	D	0.87720	0.2572	10	0.48119	T	0.1	.	16.0044	0.80349	0.0:0.0:1.0:0.0	.	155;427	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	H	427;327;155	ENSP00000288050:R427H;ENSP00000381190:R327H	ENSP00000205055:R155H	R	+	2	0	PDPR	68730392	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	7.810000	0.86072	1.985000	0.57927	0.455000	0.32223	CGC		0.507	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
AARS	16	broad.mit.edu	37	16	70292971	70292971	+	Missense_Mutation	SNP	C	C	A	rs561750417		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70292971C>A	ENST00000261772.8	-	14	2047	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.R635I(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		AAAGTCAAATCTGAGGCGGTC	0.527																																					p.R635I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904T	16						.						169.0	157.0	161.0					16																	70292971		2198	4300	6498	68850472	SO:0001583	missense	16	exon14			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1904G>T	16.37:g.70292971C>A	ENSP00000261772:p.Arg635Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68850472	NM_001605		Missense_Mutation	SNP	ENST00000261772.8	37	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282928	0.95489	.	.	ENSG00000090861	ENST00000261772	T	0.73681	-0.77	5.7	5.7	0.88788	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.054130	0.64402	D	0.000001	D	0.92877	0.7734	H	0.99838	4.83	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.66979	0.948;0.948	D	0.95906	0.8919	10	0.87932	D	0	-14.0963	17.3409	0.87296	0.0:1.0:0.0:0.0	.	643;635	E7ETK8;P49588	.;SYAC_HUMAN	I	635	ENSP00000261772:R635I	ENSP00000261772:R635I	R	-	2	0	AARS	68850472	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.778000	0.85637	2.688000	0.91661	0.655000	0.94253	AGA		0.527	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605	
DDX19B	11269	broad.mit.edu	37	16	70359546	70359546	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70359546T>A	ENST00000288071.6	+	7	807	c.562T>A	c.(562-564)Ttt>Att	p.F188I	DDX19B_ENST00000451014.3_Missense_Mutation_p.F162I|DDX19B_ENST00000393657.2_Missense_Mutation_p.F79I|DDX19B_ENST00000563392.1_Missense_Mutation_p.F79I|DDX19B_ENST00000355992.3_Missense_Mutation_p.F157I|DDX19B_ENST00000568625.1_Missense_Mutation_p.F79I|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Missense_Mutation_p.F193I|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.F188I	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	188	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.F188I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AATGGGCAAATTTTACCCTGA	0.393																																					p.F79I	Esophageal Squamous(26;382 757 1343 9728 15939)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T235A	16						.						205.0	195.0	198.0					16																	70359546		2198	4300	6498	68917047	SO:0001583	missense	11269	exon5			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.562T>A	16.37:g.70359546T>A	ENSP00000288071:p.Phe188Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68917047	NM_001014449	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331525	0.81690	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.49	4.39	0.52855	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.160721	0.56097	D	0.000025	T	0.35393	0.0930	M	0.79926	2.475	0.50467	D	0.999873	D;P;P	0.58970	0.984;0.879;0.933	D;B;P	0.65874	0.939;0.372;0.812	T	0.12319	-1.0552	10	0.87932	D	0	-3.0183	10.0554	0.42241	0.1506:0.0:0.0:0.8494	.	162;157;188	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	I	162;157;79;188	ENSP00000392639:F162I;ENSP00000348271:F157I;ENSP00000377267:F79I;ENSP00000288071:F188I	ENSP00000288071:F188I	F	+	1	0	DDX19B	68917047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.780000	0.55386	1.077000	0.40990	0.533000	0.62120	TTT		0.393	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242	
DDX19A	55308	broad.mit.edu	37	16	70405300	70405300	+	Silent	SNP	C	C	T	rs374262478		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70405300C>T	ENST00000302243.7	+	11	1372	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	DDX19A_ENST00000417604.2_Silent_p.V372V|DDX19A_ENST00000443119.2_Silent_p.V313V	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	403	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.V403V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AAGTGTCTGTCGTCATCAACT	0.542																																					p.V403V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1209T	16						.	C		0,4396		0,0,2198	62.0	57.0	59.0		1209	-2.7	1.0	16		59	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	DDX19A	NM_018332.3		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		403/479	70405300	2,12988	2198	4297	6495	68962801	SO:0001819	synonymous_variant	55308	exon11			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1209C>T	16.37:g.70405300C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68962801	NM_018332	B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	CCDS10889.1																																																																																				0.542	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332	
COG4	25839	broad.mit.edu	37	16	70542317	70542317	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70542317G>A	ENST00000323786.5	-	8	1074	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	347					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.I351I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACCTTGGTTCGATTTTTTCTG	0.393																																					p.I351I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	16						.						192.0	177.0	182.0					16																	70542317		2198	4300	6498	69099818	SO:0001819	synonymous_variant	25839	exon8			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1053C>T	16.37:g.70542317G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69099818	NM_015386	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	CCDS10892.2																																																																																				0.393	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		
SF3B3	23450	broad.mit.edu	37	16	70594430	70594430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70594430G>A	ENST00000302516.5	+	16	2280	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	690					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.R690H(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCTGATACTCGCACTCGGTAC	0.537																																					p.R690H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069A	16						.						149.0	126.0	134.0					16																	70594430		2198	4300	6498	69151931	SO:0001583	missense	23450	exon16			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2069G>A	16.37:g.70594430G>A	ENSP00000305790:p.Arg690His	Somatic		Capture	Illumina HiSeq	Phase_I	69151931	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900529	0.97081	.	.	ENSG00000189091	ENST00000302516	T	0.37411	1.2	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.78181	-0.2304	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	690	Q15393	SF3B3_HUMAN	H	690	ENSP00000305790:R690H	ENSP00000305790:R690H	R	+	2	0	SF3B3	69151931	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.807000	0.99171	2.882000	0.98803	0.655000	0.94253	CGC		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	
HYDIN	54768	broad.mit.edu	37	16	70866821	70866821	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70866821T>C	ENST00000393567.2	-	80	13979	c.13829A>G	c.(13828-13830)tAc>tGc	p.Y4610C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4610					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.Y4561C(1)|p.Y4609C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCCTGGATGTAGCAGAGAAT	0.532																																					p.Y4609C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A13826G	16						.						10.0	13.0	12.0					16																	70866821		1891	4082	5973	69424322	SO:0001583	missense	54768	exon80			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13829A>G	16.37:g.70866821T>C	ENSP00000377197:p.Tyr4610Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69424322	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	3.820	-0.037850	0.07497	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00848	5.62	4.62	0.884	0.19182	.	0.000000	0.34879	U	0.003610	T	0.00524	0.0017	N	0.08118	0	0.51233	D	0.999913	B	0.26672	0.156	B	0.20767	0.031	T	0.64584	-0.6373	10	0.38643	T	0.18	.	2.4381	0.04488	0.5504:0.1329:0.0822:0.2345	.	4609	F8WD23	.	C	4610;4609	ENSP00000377197:Y4610C	ENSP00000313052:Y4609C	Y	-	2	0	HYDIN	69424322	0.964000	0.33143	1.000000	0.80357	0.190000	0.23558	0.085000	0.14912	0.623000	0.30267	-0.475000	0.04921	TAC		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70900102	70900102	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70900102T>C	ENST00000393567.2	-	67	11591	c.11441A>G	c.(11440-11442)gAa>gGa	p.E3814G	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3814					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E3813G(1)|p.E3765G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACCAAGGTTTCCTTAAAGCG	0.423																																					p.E3813G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A11438G	16						.						34.0	36.0	35.0					16																	70900102		1830	4076	5906	69457603	SO:0001583	missense	54768	exon67			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11441A>G	16.37:g.70900102T>C	ENSP00000377197:p.Glu3814Gly	Somatic		Capture	Illumina HiSeq	Phase_I	69457603	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375767	0.82682	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00958	5.5	5.18	5.18	0.71444	.	0.000000	0.33290	U	0.005075	T	0.02380	0.0073	M	0.67953	2.075	0.80722	D	1	P	0.37612	0.602	P	0.44811	0.461	T	0.63690	-0.6580	10	0.30854	T	0.27	.	13.567	0.61824	0.0:0.0:0.0:1.0	.	3813	F8WD23	.	G	3814;3813	ENSP00000377197:E3814G	ENSP00000313052:E3813G	E	-	2	0	HYDIN	69457603	1.000000	0.71417	0.977000	0.42913	0.932000	0.56968	6.483000	0.73617	2.096000	0.63516	0.418000	0.28097	GAA		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70937650	70937650	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70937650G>T	ENST00000393567.2	-	52	8877	c.8727C>A	c.(8725-8727)agC>agA	p.S2909R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2909					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S466R(1)|p.S2908R(1)|p.S2860R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCAGACAATGCTGTCTTCAA	0.463																																					p.S2908R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C8724A	16						.						1.0	1.0	1.0					16																	70937650		184	483	667	69495151	SO:0001583	missense	54768	exon52			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8727C>A	16.37:g.70937650G>T	ENSP00000377197:p.Ser2909Arg	Somatic		Capture	Illumina HiSeq	Phase_I	69495151	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542031	0.45280	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00892	5.57	5.25	4.29	0.51040	.	0.648623	0.12396	U	0.472554	T	0.01222	0.0040	L	0.43152	1.355	0.80722	D	1	B	0.24768	0.111	B	0.28305	0.088	T	0.58434	-0.7637	10	0.12766	T	0.61	.	10.5177	0.44900	0.0761:0.1328:0.791:0.0	.	2908	F8WD23	.	R	2909;2908	ENSP00000377197:S2909R	ENSP00000313052:S2908R	S	-	3	2	HYDIN	69495151	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.981000	0.29526	2.434000	0.82447	0.603000	0.83216	AGC		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70955065	70955065	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70955065G>T	ENST00000393567.2	-	46	7364	c.7214C>A	c.(7213-7215)tCt>tAt	p.S2405Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2405					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S2404Y(1)|p.S35Y(1)|p.S2356Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCCCTAACAGATATTTTCCT	0.438																																					p.S2404Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C7211A	16						.						27.0	24.0	25.0					16																	70955065		1787	4025	5812	69512566	SO:0001583	missense	54768	exon46			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7214C>A	16.37:g.70955065G>T	ENSP00000377197:p.Ser2405Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	69512566	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772197	0.69992	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01034	5.42	5.89	5.89	0.94794	.	0.000000	0.33075	U	0.005318	T	0.04227	0.0117	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48514	-0.9029	10	0.72032	D	0.01	.	18.0178	0.89247	0.0:0.0:1.0:0.0	.	2404	F8WD23	.	Y	2405;2404	ENSP00000377197:S2405Y	ENSP00000313052:S2404Y	S	-	2	0	HYDIN	69512566	0.996000	0.38824	0.688000	0.30117	0.470000	0.32858	5.726000	0.68515	2.790000	0.95986	0.609000	0.83330	TCT		0.438	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70972532	70972532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70972532C>T	ENST00000393567.2	-	44	7130	c.6980G>A	c.(6979-6981)cGc>cAc	p.R2327H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2327					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R2326H(1)|p.R2278H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTCCGCTCGCGGAGCGCCTG	0.592																																					p.R2326H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6977A	16						.						21.0	19.0	20.0					16																	70972532		1780	4029	5809	69530033	SO:0001583	missense	54768	exon44			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6980G>A	16.37:g.70972532C>T	ENSP00000377197:p.Arg2327His	Somatic		Capture	Illumina HiSeq	Phase_I	69530033	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359388	0.41801	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.6	-0.122	0.13531	.	0.262379	0.19019	U	0.124871	T	0.01835	0.0058	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.55749	0.783	T	0.64820	-0.6317	10	0.59425	D	0.04	.	6.124	0.20170	0.3722:0.486:0.0:0.1418	.	2326	F8WD23	.	H	2327;2326	ENSP00000377197:R2327H	ENSP00000313052:R2326H	R	-	2	0	HYDIN	69530033	0.163000	0.22920	0.199000	0.23439	0.009000	0.06853	0.285000	0.18883	-0.220000	0.09988	-0.248000	0.11899	CGC		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70989435	70989435	+	Silent	SNP	G	G	A	rs201972648	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70989435G>A	ENST00000393567.2	-	40	6309	c.6159C>T	c.(6157-6159)gcC>gcT	p.A2053A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2053					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A2052A(1)|p.A2004A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACGCTAACGGCATTGGCTG	0.537													G|||	19	0.00379393	0.0144	0.0	5008	,	,		19336	0.0		0.0	False		,,,				2504	0.0				p.A2052A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6156T	16						.	G		40,3584		0,40,1772	21.0	19.0	20.0		6156	-8.3	0.0	16		20	0,8088		0,0,4044	no	coding-synonymous	HYDIN	NM_032821.2		0,40,5816	AA,AG,GG		0.0,1.1038,0.3415		2052/5121	70989435	40,11672	1812	4044	5856	69546936	SO:0001819	synonymous_variant	54768	exon40			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6159C>T	16.37:g.70989435G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69546936	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70993720	70993720	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70993720T>C	ENST00000393567.2	-	39	6122	c.5972A>G	c.(5971-5973)gAc>gGc	p.D1991G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.D1942G(1)|p.D1990G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGAAGCTTGTCAGCTGCAAA	0.458																																					p.D1990G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5969G	16						.						11.0	16.0	15.0					16																	70993720		1792	4060	5852	69551221	SO:0001583	missense	54768	exon39			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5972A>G	16.37:g.70993720T>C	ENSP00000377197:p.Asp1991Gly	Somatic		Capture	Illumina HiSeq	Phase_I	69551221	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308954	0.23821	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.40225	1.04	4.6	4.6	0.57074	.	0.220927	0.21708	U	0.070301	T	0.30978	0.0782	N	0.19112	0.55	0.80722	D	1	P	0.44139	0.827	B	0.43386	0.418	T	0.04607	-1.0939	10	0.30854	T	0.27	.	11.9317	0.52849	0.0:0.0:0.0:1.0	.	1990	F8WD23	.	G	1991;1990	ENSP00000377197:D1991G	ENSP00000310485:D282G	D	-	2	0	HYDIN	69551221	1.000000	0.71417	0.216000	0.23742	0.238000	0.25445	4.634000	0.61325	1.725000	0.51514	0.413000	0.27773	GAC		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71008441	71008441	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71008441C>A	ENST00000393567.2	-	32	5055	c.4905G>T	c.(4903-4905)gaG>gaT	p.E1635D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1635					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E1586D(1)|p.E1634D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGTACCTGTCTCATGAAGGA	0.507																																					p.E1634D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4902T	16						.						8.0	17.0	15.0					16																	71008441		1628	3984	5612	69565942	SO:0001583	missense	54768	exon32			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4905G>T	16.37:g.71008441C>A	ENSP00000377197:p.Glu1635Asp	Somatic		Capture	Illumina HiSeq	Phase_I	69565942	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	1.853	-0.464621	0.04476	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.66	1.46	0.22682	.	0.692121	0.10861	N	0.626108	T	0.00412	0.0013	N	0.02315	-0.6	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36359	-0.9751	10	0.06625	T	0.88	.	2.0581	0.03586	0.1768:0.1542:0.5047:0.1643	.	1634	F8WD23	.	D	1635;1634	ENSP00000377197:E1635D	ENSP00000313052:E1634D	E	-	3	2	HYDIN	69565942	0.988000	0.35896	0.984000	0.44739	0.931000	0.56810	0.440000	0.21592	0.110000	0.17919	-0.430000	0.05897	GAG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71012837	71012837	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71012837G>A	ENST00000393567.2	-	30	4768	c.4618C>T	c.(4618-4620)Cca>Tca	p.P1540S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1540					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.P1539S(1)|p.P1491S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCGTCTTCTGGCACTTCCTCA	0.483																																					p.P1539S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4615T	16						.						104.0	98.0	100.0					16																	71012837		1981	4159	6140	69570338	SO:0001583	missense	54768	exon30			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4618C>T	16.37:g.71012837G>A	ENSP00000377197:p.Pro1540Ser	Somatic		Capture	Illumina HiSeq	Phase_I	69570338	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	5.599	0.295272	0.10622	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.82	0.495	0.16890	.	0.241697	0.20352	N	0.094024	T	0.00815	0.0027	L	0.36672	1.1	0.35500	D	0.799742	B	0.16802	0.019	B	0.15484	0.013	T	0.50346	-0.8839	10	0.16420	T	0.52	.	5.8332	0.18593	0.2536:0.1419:0.6045:0.0	.	1539	F8WD23	.	S	1540;1539	ENSP00000377197:P1540S	ENSP00000313052:P1539S	P	-	1	0	HYDIN	69570338	0.000000	0.05858	0.071000	0.20095	0.008000	0.06430	-0.256000	0.08757	0.185000	0.20105	-0.233000	0.12211	CCA		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71021860	71021860	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71021860G>T	ENST00000393567.2	-	27	4311	c.4161C>A	c.(4159-4161)tcC>tcA	p.S1387S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1387					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S1386S(1)|p.S1338S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGTGTCAAAGGAATAGTTGA	0.433																																					p.S1386S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4158A	16						.						1.0	1.0	1.0					16																	71021860		2	7	9	69579361	SO:0001819	synonymous_variant	54768	exon27			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4161C>A	16.37:g.71021860G>T		Somatic		Capture	Illumina HiSeq	Phase_I	69579361	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.433	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
CALB2	794	broad.mit.edu	37	16	71411629	71411629	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71411629C>T	ENST00000302628.4	+	4	398	c.321C>T	c.(319-321)ggC>ggT	p.G107G	CALB2_ENST00000349553.5_Silent_p.G107G	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	107	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G107G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGCACGTGGGCTCCAGCGCCG	0.577																																					p.G107G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	16						.						97.0	88.0	91.0					16																	71411629		2198	4300	6498	69969130	SO:0001819	synonymous_variant	794	exon4			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.321C>T	16.37:g.71411629C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69969130	NM_007088	A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	CCDS10899.1																																																																																				0.577	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	
ZNF19	7567	broad.mit.edu	37	16	71509404	71509404	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71509404C>A	ENST00000288177.5	-	6	1301	c.1046G>T	c.(1045-1047)aGa>aTa	p.R349I	ZNF19_ENST00000565637.1_Missense_Mutation_p.R307I|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.R279I|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R349I	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	349					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)	p.R349I(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACTGTGAATTCTCTGGTGCCG	0.413																																					p.R349I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1046T	16						.						76.0	76.0	76.0					16																	71509404		2198	4300	6498	70066905	SO:0001583	missense	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1046G>T	16.37:g.71509404C>A	ENSP00000288177:p.Arg349Ile	Somatic		Capture	Illumina HiSeq	Phase_I	70066905	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	6.119	0.390278	0.11581	.	.	ENSG00000157429	ENST00000288177	T	0.24908	1.83	3.25	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.471713	0.15920	N	0.238177	T	0.32823	0.0842	M	0.66560	2.04	0.29154	N	0.878198	P	0.40107	0.703	P	0.46885	0.53	T	0.24012	-1.0172	10	0.87932	D	0	.	7.7848	0.29085	0.0:0.7775:0.0:0.2225	.	349	P17023	ZNF19_HUMAN	I	349	ENSP00000288177:R349I	ENSP00000288177:R349I	R	-	2	0	ZNF19	70066905	0.000000	0.05858	0.331000	0.25455	0.102000	0.19082	-0.085000	0.11250	0.376000	0.24707	-0.150000	0.13652	AGA		0.413	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
DHX38	9785	broad.mit.edu	37	16	72146321	72146321	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:72146321G>T	ENST00000268482.3	+	27	4118	c.3609G>T	c.(3607-3609)aaG>aaT	p.K1203N	PMFBP1_ENST00000537792.1_3'UTR|DHX38_ENST00000536867.1_Missense_Mutation_p.K515N	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1203					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K1203N(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGTCTACGAAGATCTACACTC	0.617																																					p.K1203N	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3609T	16						.						92.0	78.0	82.0					16																	72146321		2198	4300	6498	70703822	SO:0001583	missense	9785	exon27			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3609G>T	16.37:g.72146321G>T	ENSP00000268482:p.Lys1203Asn	Somatic		Capture	Illumina HiSeq	Phase_I	70703822	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828720	0.50845	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10192	4.06;2.9	5.44	5.44	0.79542	.	0.112412	0.64402	D	0.000014	T	0.09862	0.0242	L	0.54323	1.7	0.80722	D	1	P;P	0.41475	0.514;0.751	B;B	0.32022	0.084;0.139	T	0.06607	-1.0817	10	0.33141	T	0.24	.	11.2615	0.49085	0.0894:0.0:0.9106:0.0	.	515;1203	B4DVG8;Q92620	.;PRP16_HUMAN	N	1203;515	ENSP00000268482:K1203N;ENSP00000437898:K515N	ENSP00000268482:K1203N	K	+	3	2	DHX38	70703822	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.743000	0.55104	2.828000	0.97474	0.655000	0.94253	AAG		0.617	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
ZFHX3	463	broad.mit.edu	37	16	72993861	72993861	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:72993861C>T	ENST00000268489.5	-	2	856	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	62					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A62T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGCTCTCCGCGAGGCGCTCA	0.667																																					p.A62T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184A	16						.						39.0	42.0	41.0					16																	72993861		2197	4300	6497	71551362	SO:0001583	missense	463	exon2			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.184G>A	16.37:g.72993861C>T	ENSP00000268489:p.Ala62Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71551362	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367300	0.24771	.	.	ENSG00000140836	ENST00000268489	T	0.72942	-0.7	5.11	3.03	0.35002	.	0.281148	0.24945	N	0.034355	T	0.43255	0.1239	N	0.08118	0	0.80722	D	1	B	0.29590	0.25	B	0.18871	0.023	T	0.30357	-0.9981	10	0.33940	T	0.23	.	6.5861	0.22622	0.2495:0.441:0.3096:0.0	.	62	Q15911	ZFHX3_HUMAN	T	62	ENSP00000268489:A62T	ENSP00000268489:A62T	A	-	1	0	ZFHX3	71551362	0.008000	0.16893	0.935000	0.37517	0.717000	0.41224	0.588000	0.23924	1.109000	0.41680	0.462000	0.41574	GCG		0.667	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
GLG1	2734	broad.mit.edu	37	16	74490600	74490600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:74490600C>T	ENST00000422840.2	-	25	3318	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1107					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E1107K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418																																					p.E1096K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3286A	16						.						140.0	135.0	137.0					16																	74490600		2198	4300	6498	73048101	SO:0001583	missense	2734	exon24				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3319G>A	16.37:g.74490600C>T	ENSP00000405984:p.Glu1107Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73048101	NM_001145666	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353564	0.82243	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.43152	1.355	0.80722	D	1	D;P;P;P	0.61080	0.989;0.787;0.919;0.573	P;B;B;B	0.49799	0.622;0.098;0.2;0.072	T	0.58239	-0.7671	9	0.37606	T	0.19	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	237;1107;1107;1096	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	K	1107;1096;1107	.	ENSP00000205061:E1107K	E	-	1	0	GLG1	73048101	1.000000	0.71417	0.961000	0.40146	0.744000	0.42396	7.487000	0.81328	2.708000	0.92522	0.650000	0.86243	GAG		0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
WDR59	79726	broad.mit.edu	37	16	74923711	74923711	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:74923711A>C	ENST00000262144.6	-	21	2215	c.2085T>G	c.(2083-2085)gtT>gtG	p.V695V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	695								p.V695V(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGCGACCAAACCTGGACAG	0.493																																					p.V695V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2085G	16						.						54.0	51.0	52.0					16																	74923711		2198	4300	6498	73481212	SO:0001819	synonymous_variant	79726	exon21			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2085T>G	16.37:g.74923711A>C		Somatic		Capture	Illumina HiSeq	Phase_I	73481212	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.493	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
ZFP1	162239	broad.mit.edu	37	16	75203545	75203545	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:75203545C>A	ENST00000393430.2	+	4	661	c.537C>A	c.(535-537)aaC>aaA	p.N179K	ZFP1_ENST00000332307.4_Missense_Mutation_p.N146K|ZFP1_ENST00000570010.1_Missense_Mutation_p.N179K|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	179					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)	p.N179K(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAATAAAAAACTTGGTTCAAC	0.353																																					p.N179K	NSCLC(187;1429 2122 10143 20357 42217)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C537A	16						.						57.0	63.0	61.0					16																	75203545		2198	4300	6498	73761046	SO:0001583	missense	162239	exon4			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.537C>A	16.37:g.75203545C>A	ENSP00000377080:p.Asn179Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73761046	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566948	0.28003	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.27720	1.65	4.51	0.708	0.18144	.	0.123305	0.37261	N	0.002167	T	0.22742	0.0549	L	0.43923	1.385	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.06588	-1.0818	10	0.72032	D	0.01	-32.2941	7.7509	0.28896	0.0:0.5524:0.0:0.4476	.	179	Q6P2D0	ZFP1_HUMAN	K	179	ENSP00000377080:N179K	ENSP00000333192:N179K	N	+	3	2	ZFP1	73761046	0.001000	0.12720	0.988000	0.46212	0.959000	0.62525	-1.324000	0.02690	0.147000	0.19030	-0.459000	0.05422	AAC		0.353	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
ZFP1	162239	broad.mit.edu	37	16	75203619	75203619	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:75203619G>T	ENST00000393430.2	+	4	735	c.611G>T	c.(610-612)aGa>aTa	p.R204I	ZFP1_ENST00000332307.4_Missense_Mutation_p.R171I|ZFP1_ENST00000570010.1_Missense_Mutation_p.R204I|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	204					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)	p.R204I(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGTCATAAGAGAATACATACT	0.358																																					p.R204I	NSCLC(187;1429 2122 10143 20357 42217)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611T	16						.						46.0	49.0	48.0					16																	75203619		2198	4300	6498	73761120	SO:0001583	missense	162239	exon4			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.611G>T	16.37:g.75203619G>T	ENSP00000377080:p.Arg204Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73761120	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506764	0.85282	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.24908	1.83	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000072	T	0.50120	0.1597	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.53788	-0.8389	10	0.72032	D	0.01	-32.254	15.5305	0.75956	0.0:0.0:1.0:0.0	.	204	Q6P2D0	ZFP1_HUMAN	I	204	ENSP00000377080:R204I	ENSP00000333192:R204I	R	+	2	0	ZFP1	73761120	0.652000	0.27349	1.000000	0.80357	0.997000	0.91878	3.841000	0.55850	2.793000	0.96121	0.561000	0.74099	AGA		0.358	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
ZFP1	162239	broad.mit.edu	37	16	75203871	75203871	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:75203871G>T	ENST00000393430.2	+	4	987	c.863G>T	c.(862-864)aGa>aTa	p.R288I	ZFP1_ENST00000332307.4_Missense_Mutation_p.R255I|ZFP1_ENST00000570010.1_Missense_Mutation_p.R288I|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	288					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)	p.R288I(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACACACCAGAGAATTCATACA	0.433																																					p.R288I	NSCLC(187;1429 2122 10143 20357 42217)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863T	16						.						69.0	71.0	70.0					16																	75203871		2198	4300	6498	73761372	SO:0001583	missense	162239	exon4			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.863G>T	16.37:g.75203871G>T	ENSP00000377080:p.Arg288Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73761372	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917622	0.73098	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.24908	1.83	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000066	T	0.46425	0.1392	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.44314	-0.9336	10	0.72032	D	0.01	-32.1339	14.819	0.70055	0.0:0.0:1.0:0.0	.	288	Q6P2D0	ZFP1_HUMAN	I	288	ENSP00000377080:R288I	ENSP00000333192:R288I	R	+	2	0	ZFP1	73761372	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.748000	0.55142	2.629000	0.89072	0.655000	0.94253	AGA		0.433	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
CNTNAP4	85445	broad.mit.edu	37	16	76555167	76555167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:76555167G>T	ENST00000476707.1	+	15	2644	c.2505G>T	c.(2503-2505)gaG>gaT	p.E835D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E831D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E759D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E783D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	832	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.E759D(1)|p.E831D(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATTTTTAGAGAACTTGGGGA	0.383																																					p.R832I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2495T	16						.						217.0	207.0	210.0					16																	76555167		1811	4065	5876	75112668	SO:0001583	missense	85445	exon16			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2505G>T	16.37:g.76555167G>T	ENSP00000417628:p.Glu835Asp	Somatic		Capture	Illumina HiSeq	Phase_I	75112668	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	18.97	3.734965	0.69189	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.99	3.01	0.34805	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.41823	D	0.000808	D	0.86016	0.5832	.	.	.	0.41283	D	0.98692	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.999	D	0.85349	0.1100	9	0.72032	D	0.01	.	8.2592	0.31775	0.3072:0.0:0.6928:0.0	.	759;835;832	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	831;783;759;835	ENSP00000306893:E831D;ENSP00000439733:E783D;ENSP00000418741:E759D;ENSP00000417628:E835D	ENSP00000306893:E831D	E	+	3	2	CNTNAP4	75112668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.961000	0.29267	0.693000	0.31634	0.561000	0.74099	GAG		0.383	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ADAMTS18	170692	broad.mit.edu	37	16	77325265	77325265	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77325265C>A	ENST00000282849.5	-	21	3718	c.3300G>T	c.(3298-3300)aaG>aaT	p.K1100N	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1100	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1100N(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATTTGGTTTCTTAATATTAC	0.522																																					p.K1100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3300T	16						.						204.0	206.0	205.0					16																	77325265		2198	4300	6498	75882766	SO:0001583	missense	170692	exon21			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3300G>T	16.37:g.77325265C>A	ENSP00000282849:p.Lys1100Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75882766	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826300	0.32329	.	.	ENSG00000140873	ENST00000282849	T	0.60171	0.21	5.8	4.85	0.62838	.	0.182790	0.48286	D	0.000195	T	0.59404	0.2191	L	0.52206	1.635	0.45718	D	0.998623	P	0.43662	0.814	P	0.49999	0.628	T	0.54248	-0.8322	10	0.14252	T	0.57	.	13.841	0.63439	0.0:0.927:0.0:0.0729	.	1100	Q8TE60	ATS18_HUMAN	N	1100	ENSP00000282849:K1100N	ENSP00000282849:K1100N	K	-	3	2	ADAMTS18	75882766	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	1.970000	0.40520	1.459000	0.47892	0.563000	0.77884	AAG		0.522	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
ADAMTS18	170692	broad.mit.edu	37	16	77389955	77389955	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77389955C>T	ENST00000282849.5	-	9	1760	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	448	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G448R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCCCTTCTCCATCGTGAATC	0.423																																					p.G448R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1342A	16						.						104.0	94.0	97.0					16																	77389955		2198	4300	6498	75947456	SO:0001583	missense	170692	exon9			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1342G>A	16.37:g.77389955C>T	ENSP00000282849:p.Gly448Arg	Somatic		Capture	Illumina HiSeq	Phase_I	75947456	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962587	0.74016	.	.	ENSG00000140873	ENST00000282849	D	0.87491	-2.26	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93809	0.7108	10	0.87932	D	0	.	18.2505	0.90000	0.0:1.0:0.0:0.0	.	448;448	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	R	448	ENSP00000282849:G448R	ENSP00000282849:G448R	G	-	1	0	ADAMTS18	75947456	1.000000	0.71417	0.874000	0.34290	0.364000	0.29643	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGA		0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
ADAMTS18	170692	broad.mit.edu	37	16	77401474	77401474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77401474G>T	ENST00000282849.5	-	4	1060	c.642C>A	c.(640-642)taC>taA	p.Y214*	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	214					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y214*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTAGCCACGGTACCGCTGGA	0.552																																					p.Y214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C642A	16						.						97.0	85.0	89.0					16																	77401474		2198	4300	6498	75958975	SO:0001587	stop_gained	170692	exon4			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.642C>A	16.37:g.77401474G>T	ENSP00000282849:p.Tyr214*	Somatic		Capture	Illumina HiSeq	Phase_I	75958975	NM_199355	Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455276	0.96223	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	.	.	.	4.72	0.0249	0.14143	.	0.572692	0.17260	N	0.180831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6811	0.40070	0.3701:0.0:0.6299:0.0	.	.	.	.	X	214	.	ENSP00000282849:Y214X	Y	-	3	2	ADAMTS18	75958975	0.001000	0.12720	0.007000	0.13788	0.974000	0.67602	0.635000	0.24629	0.163000	0.19507	0.555000	0.69702	TAC		0.552	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
ADAMTS18	170692	broad.mit.edu	37	16	77465420	77465420	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77465420C>T	ENST00000282849.5	-	3	685	c.267G>A	c.(265-267)tcG>tcA	p.S89S	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	89					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S89S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTCTGCGCCGATCGCTTTT	0.478																																					p.S89S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G267A	16						.						188.0	192.0	191.0					16																	77465420		2198	4300	6498	76022921	SO:0001819	synonymous_variant	170692	exon3			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.267G>A	16.37:g.77465420C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76022921	NM_199355	Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
NUDT7	283927	broad.mit.edu	37	16	77775776	77775776	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77775776C>A	ENST00000268533.5	+	4	715	c.646C>A	c.(646-648)Ctt>Att	p.L216I	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Missense_Mutation_p.L163I	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	216					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L216I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCAATTTAATCTTAATGATGT	0.378																																					p.L216I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C646A	16						.						63.0	58.0	60.0					16																	77775776		1821	4087	5908	76333277	SO:0001583	missense	283927	exon4			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.646C>A	16.37:g.77775776C>A	ENSP00000268533:p.Leu216Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76333277	NM_001105663	B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843377	0.51057	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.51325	1.34;0.71	5.4	3.34	0.38264	.	0.311183	0.30879	N	0.008690	T	0.64638	0.2616	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.93	T	0.67515	-0.5651	10	0.62326	D	0.03	-22.4837	10.6198	0.45474	0.0:0.7868:0.1354:0.0777	.	163;216	B4DLE5;P0C024	.;NUDT7_HUMAN	I	216;163	ENSP00000268533:L216I;ENSP00000387707:L163I	ENSP00000268533:L216I	L	+	1	0	NUDT7	76333277	0.996000	0.38824	0.588000	0.28705	0.364000	0.29643	0.497000	0.22514	2.526000	0.85167	0.561000	0.74099	CTT		0.378	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		
VAT1L	57687	broad.mit.edu	37	16	77859154	77859154	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77859154T>G	ENST00000302536.2	+	3	528	c.375T>G	c.(373-375)cgT>cgG	p.R125R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	125							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.R125R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTGGAGACCGTGTCATGGCAT	0.537																																					p.R125R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T375G	16						.						120.0	107.0	112.0					16																	77859154		2198	4300	6498	76416655	SO:0001819	synonymous_variant	57687	exon3			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.375T>G	16.37:g.77859154T>G		Somatic		Capture	Illumina HiSeq	Phase_I	76416655	NM_020927	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																				0.537	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
CDYL2	124359	broad.mit.edu	37	16	80667127	80667127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:80667127G>T	ENST00000570137.2	-	3	778	c.623C>A	c.(622-624)gCt>gAt	p.A208D	CDYL2_ENST00000566173.1_Missense_Mutation_p.A209D|CDYL2_ENST00000563890.1_Missense_Mutation_p.A209D|CDYL2_ENST00000562812.1_Missense_Mutation_p.A209D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	208						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A208D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTTGGTCAGAGCAGAGCCTTC	0.483																																					p.A208D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623A	16						.						83.0	81.0	82.0					16																	80667127		2203	4300	6503	79224628	SO:0001583	missense	124359	exon3			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.623C>A	16.37:g.80667127G>T	ENSP00000476295:p.Ala208Asp	Somatic		Capture	Illumina HiSeq	Phase_I	79224628	NM_152342	Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563350	0.45694	.	.	ENSG00000166446	ENST00000299564	T	0.57752	0.38	5.0	4.02	0.46733	.	0.438260	0.24081	N	0.041726	T	0.31009	0.0783	N	0.08118	0	0.34666	D	0.72315	B	0.30584	0.286	B	0.22880	0.042	T	0.46428	-0.9192	10	0.56958	D	0.05	.	12.8238	0.57708	0.0:0.164:0.836:0.0	.	208	Q8N8U2	CDYL2_HUMAN	D	208	ENSP00000299564:A208D	ENSP00000299564:A208D	A	-	2	0	CDYL2	79224628	0.995000	0.38212	0.993000	0.49108	0.716000	0.41182	4.538000	0.60650	1.285000	0.44548	0.591000	0.81541	GCT		0.483	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
CDYL2	124359	broad.mit.edu	37	16	80718641	80718641	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:80718641T>C	ENST00000570137.2	-	2	565	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	CDYL2_ENST00000566173.1_Missense_Mutation_p.Y137C|CDYL2_ENST00000563890.1_Missense_Mutation_p.Y137C|CDYL2_ENST00000562812.1_Missense_Mutation_p.Y137C|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	137						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Y137C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTAGTCCTGTAAGACACCGT	0.522																																					p.Y137C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A410G	16						.						88.0	93.0	92.0					16																	80718641		2203	4300	6503	79276142	SO:0001583	missense	124359	exon2			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.410A>G	16.37:g.80718641T>C	ENSP00000476295:p.Tyr137Cys	Somatic		Capture	Illumina HiSeq	Phase_I	79276142	NM_152342	Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333586	0.60853	.	.	ENSG00000166446	ENST00000299564	T	0.56611	0.45	5.14	5.14	0.70334	.	0.281443	0.30667	N	0.009125	T	0.50990	0.1648	N	0.19112	0.55	0.53005	D	0.999966	D	0.61697	0.99	P	0.55391	0.775	T	0.51616	-0.8683	10	0.39692	T	0.17	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	137	Q8N8U2	CDYL2_HUMAN	C	137	ENSP00000299564:Y137C	ENSP00000299564:Y137C	Y	-	2	0	CDYL2	79276142	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.119000	0.64679	2.154000	0.67381	0.482000	0.46254	TAC		0.522	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
ATMIN	23300	broad.mit.edu	37	16	81077329	81077329	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81077329C>A	ENST00000299575.4	+	4	1250	c.1226C>A	c.(1225-1227)tCt>tAt	p.S409Y	ATMIN_ENST00000564241.1_Missense_Mutation_p.S253Y|ATMIN_ENST00000566488.1_Missense_Mutation_p.S253Y|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	409	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S409Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATAGCATTTCTTCAATCAAC	0.423																																					p.S409Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1226A	16						.						116.0	103.0	108.0					16																	81077329		2202	4300	6502	79634830	SO:0001583	missense	23300	exon4			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1226C>A	16.37:g.81077329C>A	ENSP00000299575:p.Ser409Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	79634830	NM_015251	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989997	0.54041	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03330	3.97	5.91	4.94	0.65067	.	0.156225	0.56097	D	0.000028	T	0.14657	0.0354	M	0.77616	2.38	0.41181	D	0.986231	D	0.61080	0.989	P	0.55667	0.781	T	0.00992	-1.1488	10	0.72032	D	0.01	-11.1236	16.0571	0.80814	0.0:0.747:0.253:0.0	.	409	O43313	ATMIN_HUMAN	Y	409;180	ENSP00000299575:S409Y	ENSP00000299575:S409Y	S	+	2	0	ATMIN	79634830	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.394000	0.52551	1.459000	0.47892	0.655000	0.94253	TCT		0.423	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
PKD1L2	114780	broad.mit.edu	37	16	81134809	81134809	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81134809C>A	ENST00000534142.1	-	0	1686				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCTTCCAGGCTCCTCTCTCT	0.542																																					p.S2433I												.	.	0			c.G7298T	16						.						67.0	76.0	73.0					16																	81134809		2122	4249	6371	79692310			114780	exon43			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81134809C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79692310	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37																																																																																					0.542	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
PKD1L2	114780	broad.mit.edu	37	16	81150978	81150978	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81150978C>T	ENST00000534142.1	-	0	1158				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACTGACTCCTCCCTGTGGT	0.642																																					p.R2257K												.	.	0			c.G6770A	16						.						27.0	31.0	30.0					16																	81150978		2025	4173	6198	79708479			114780	exon39			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81150978C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79708479	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37																																																																																					0.642	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
PKD1L2	114780	broad.mit.edu	37	16	81181017	81181017	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81181017C>T	ENST00000525539.1	-	0	5073				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.A1692T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCACCAAGGCGAGGAGACTG	0.522																																					p.A1692T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5074A	16						.						135.0	136.0	135.0					16																	81181017		1963	4146	6109	79738518			114780	exon30			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181017C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79738518	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.522	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
PKD1L2	114780	broad.mit.edu	37	16	81181844	81181844	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81181844C>A	ENST00000525539.1	-	0	4871				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.K1624N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTCTGCTCCTTCGCGACCC	0.597																																					p.K1624N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4872T	16						.						48.0	49.0	49.0					16																	81181844		1872	4104	5976	79739345			114780	exon29			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181844C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79739345	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.597	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
BCO1	53630	broad.mit.edu	37	16	81324060	81324060	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81324060G>A	ENST00000258168.2	+	11	1983	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	BCMO1_ENST00000425577.2_Missense_Mutation_p.D439N	NM_017429.2	NP_059125.2												p.D508N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGTTGATGTCGATATGCACAT	0.493																																					p.D508N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1522A	16						.						106.0	99.0	102.0					16																	81324060		2202	4300	6502	79881561	SO:0001583	missense	53630	exon11																														ENST00000258168.2:c.1522G>A	16.37:g.81324060G>A	ENSP00000258168:p.Asp508Asn	Somatic		Capture	Illumina HiSeq	Phase_I	79881561	NM_017429		Missense_Mutation	SNP	ENST00000258168.2	37	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	0.232	-1.019993	0.02078	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94537	-3.45;-3.45	6.14	6.14	0.99180	.	0.729873	0.14567	N	0.311668	D	0.86125	0.5858	N	0.15975	0.35	0.09310	N	0.999997	B;B	0.30211	0.273;0.011	B;B	0.17722	0.019;0.007	T	0.73845	-0.3854	10	0.15952	T	0.53	-7.9598	9.5701	0.39422	0.148:0.0:0.852:0.0	.	439;508	E7EM88;Q9HAY6	.;BCDO1_HUMAN	N	508;439	ENSP00000258168:D508N;ENSP00000400586:D439N	ENSP00000258168:D508N	D	+	1	0	BCMO1	79881561	0.395000	0.25254	0.129000	0.21949	0.005000	0.04900	1.574000	0.36482	2.937000	0.99478	0.650000	0.86243	GAT		0.493	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1		
GAN	8139	broad.mit.edu	37	16	81411184	81411184	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81411184C>T	ENST00000568107.2	+	11	1939	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	593					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R593C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ATTCCGTATTCGTGTTCATTC	0.532																																					p.R593C	GBM(106;1239 1507 7582 9741 33976)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1777T	16						.						166.0	147.0	154.0					16																	81411184		2201	4300	6501	79968685	SO:0001583	missense	8139	exon11			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1777C>T	16.37:g.81411184C>T	ENSP00000476795:p.Arg593Cys	Somatic		Capture	Illumina HiSeq	Phase_I	79968685	NM_022041		Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702615	0.68501	.	.	ENSG00000127688	ENST00000248272	T	0.77620	-1.11	5.58	5.58	0.84498	.	0.249826	0.18101	U	0.151687	T	0.81088	0.4750	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84221	0.0461	10	0.87932	D	0	.	19.5747	0.95438	0.0:1.0:0.0:0.0	.	593	Q9H2C0	GAN_HUMAN	C	593	ENSP00000248272:R593C	ENSP00000248272:R593C	R	+	1	0	GAN	79968685	1.000000	0.71417	0.438000	0.26821	0.611000	0.37282	7.571000	0.82399	2.631000	0.89168	0.467000	0.42956	CGT		0.532	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
PLCG2	5336	broad.mit.edu	37	16	81969933	81969933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:81969933G>A	ENST00000359376.3	+	27	3216	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1001	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R1001H(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GACCCCTTCCGCCTCTGGCTG	0.562																																					p.R1001H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3002A	16						.						70.0	75.0	74.0					16																	81969933		2055	4193	6248	80527434	SO:0001583	missense	5336	exon27				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3002G>A	16.37:g.81969933G>A	ENSP00000352336:p.Arg1001His	Somatic		Capture	Illumina HiSeq	Phase_I	80527434	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465066	0.84425	.	.	ENSG00000197943	ENST00000359376	T	0.52983	0.64	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.052153	0.85682	D	0.000000	T	0.48840	0.1522	N	0.13235	0.315	0.53688	D	0.999979	D	0.71674	0.998	D	0.63597	0.916	T	0.55360	-0.8153	10	0.62326	D	0.03	.	13.5725	0.61856	0.0:0.1559:0.8441:0.0	.	1001	P16885	PLCG2_HUMAN	H	1001	ENSP00000352336:R1001H	ENSP00000352336:R1001H	R	+	2	0	PLCG2	80527434	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.472000	0.66768	2.208000	0.71279	0.561000	0.74099	CGC		0.562	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
CDH13	1012	broad.mit.edu	37	16	83251091	83251091	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:83251091G>A	ENST00000566620.1	+	5	915	c.625G>A	c.(625-627)Gct>Act	p.A209T	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.A256T|CDH13_ENST00000428848.3_Missense_Mutation_p.A170T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	209	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.A209T(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGAAGTAATCGCTGTTTATCA	0.478																																					p.A209T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	16						.						89.0	92.0	91.0					16																	83251091		1948	4140	6088	81808592	SO:0001583	missense	1012	exon5			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.625G>A	16.37:g.83251091G>A	ENSP00000454435:p.Ala209Thr	Somatic		Capture	Illumina HiSeq	Phase_I	81808592	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354791	0.61293	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.61158	0.13	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66015	0.2747	M	0.67953	2.075	0.80722	D	1	D;D;P	0.56746	0.977;0.962;0.953	P;P;B	0.52823	0.71;0.592;0.165	T	0.67169	-0.5738	9	0.49607	T	0.09	.	13.1212	0.59327	0.0:0.1606:0.8394:0.0	.	170;256;209	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	T	256;209;170	ENSP00000268613:A256T	ENSP00000268613:A256T	A	+	1	0	CDH13	81808592	0.999000	0.42202	0.710000	0.30468	0.213000	0.24496	3.906000	0.56340	2.720000	0.93068	0.557000	0.71058	GCT		0.478	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
CDH13	1012	broad.mit.edu	37	16	83520204	83520204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:83520204G>A	ENST00000566620.1	+	7	1194	c.904G>A	c.(904-906)Gat>Aat	p.D302N	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.D349N|CDH13_ENST00000428848.3_Missense_Mutation_p.D263N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	302	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.D302N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTTCTACATCGATCCTGAGAA	0.488																																					p.D302N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	16						.						96.0	94.0	95.0					16																	83520204		2059	4215	6274	82077705	SO:0001583	missense	1012	exon7			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.904G>A	16.37:g.83520204G>A	ENSP00000454435:p.Asp302Asn	Somatic		Capture	Illumina HiSeq	Phase_I	82077705	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807622	0.31961	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.62788	0.0	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56761	0.2007	N	0.03608	-0.345	0.80722	D	1	B;B;D	0.89917	0.108;0.021;1.0	B;B;D	0.87578	0.031;0.073;0.998	T	0.53648	-0.8409	9	0.02654	T	1	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	263;349;302	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	349;302;263	ENSP00000268613:D349N	ENSP00000268613:D349N	D	+	1	0	CDH13	82077705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.054000	0.93866	2.733000	0.93635	0.655000	0.94253	GAT		0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
KCNG4	93107	broad.mit.edu	37	16	84270397	84270397	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:84270397G>A	ENST00000308251.4	-	2	763	c.695C>T	c.(694-696)gCc>gTc	p.A232V	KCNG4_ENST00000568181.1_Missense_Mutation_p.A232V	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	232					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.A232V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTGTGGTGGCCACGAAGAG	0.657																																					p.A232V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	16						.						38.0	37.0	37.0					16																	84270397		2200	4300	6500	82827898	SO:0001583	missense	93107	exon2			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.695C>T	16.37:g.84270397G>A	ENSP00000312129:p.Ala232Val	Somatic		Capture	Illumina HiSeq	Phase_I	82827898	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463619	0.63513	.	.	ENSG00000168418	ENST00000308251	D	0.97161	-4.27	5.11	5.11	0.69529	.	0.242043	0.38605	N	0.001621	D	0.97272	0.9108	M	0.66939	2.045	0.44908	D	0.997923	P;D	0.65815	0.768;0.995	B;P	0.61722	0.298;0.893	D	0.96022	0.9010	10	0.02654	T	1	.	17.5437	0.87855	0.0:0.0:1.0:0.0	.	232;232	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	V	232	ENSP00000312129:A232V	ENSP00000312129:A232V	A	-	2	0	KCNG4	82827898	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.852000	0.48310	2.364000	0.80123	0.549000	0.68633	GCC		0.657	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347	
USP10	9100	broad.mit.edu	37	16	84793547	84793547	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:84793547G>T	ENST00000219473.7	+	7	1558	c.1445G>T	c.(1444-1446)cGa>cTa	p.R482L	USP10_ENST00000570191.1_Missense_Mutation_p.R486L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	482	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R482L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCAAAACCCCGACAAGGTTAG	0.338																																					p.R482L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1445T	16						.						104.0	98.0	100.0					16																	84793547		1834	4096	5930	83351048	SO:0001583	missense	9100	exon7			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1445G>T	16.37:g.84793547G>T	ENSP00000219473:p.Arg482Leu	Somatic		Capture	Illumina HiSeq	Phase_I	83351048	NM_005153	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600996	0.46423	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.26660	1.72	5.24	4.06	0.47325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.360481	0.31113	N	0.008235	T	0.12902	0.0313	N	0.12961	0.28	0.37435	D	0.914202	B;B	0.23249	0.082;0.02	B;B	0.23716	0.034;0.048	T	0.11542	-1.0583	10	0.35671	T	0.21	-17.8111	5.1794	0.15152	0.2021:0.0:0.7979:0.0	.	486;482	Q14694-3;Q14694	.;UBP10_HUMAN	L	482;44	ENSP00000219473:R482L	ENSP00000219473:R482L	R	+	2	0	USP10	83351048	1.000000	0.71417	0.990000	0.47175	0.657000	0.38888	6.557000	0.73937	2.607000	0.88179	0.655000	0.94253	CGA		0.338	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
METTL22	79091	broad.mit.edu	37	16	8736360	8736360	+	Silent	SNP	G	G	A	rs374096817	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:8736360G>A	ENST00000381920.3	+	9	1206	c.948G>A	c.(946-948)acG>acA	p.T316T	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Silent_p.T260T	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	316						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.T316T(1)		large_intestine(5)|lung(4)	9						TGTTTAAAACGCTCTCCCGAC	0.502													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21519	0.0		0.0	False		,,,				2504	0.0				p.T316T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G948A	16						.	G		3,4051		0,3,2024	243.0	250.0	248.0		948	-9.2	0.0	16		248	0,8350		0,0,4175	no	coding-synonymous	METTL22	NM_024109.2		0,3,6199	AA,AG,GG		0.0,0.074,0.0242		316/405	8736360	3,12401	2027	4175	6202	8643861	SO:0001819	synonymous_variant	79091	exon9			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.948G>A	16.37:g.8736360G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8643861	NM_024109	B2RD29|D3DUF2|Q6XYB4|Q9HA03	Silent	SNP	ENST00000381920.3	37	CCDS10533.2																																																																																				0.502	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109	
ABAT	18	broad.mit.edu	37	16	8866761	8866761	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:8866761A>G	ENST00000396600.2	+	12	1879	c.941A>G	c.(940-942)gAc>gGc	p.D314G	ABAT_ENST00000425191.2_Missense_Mutation_p.D314G|ABAT_ENST00000567812.1_Missense_Mutation_p.D329G|ABAT_ENST00000569156.1_Missense_Mutation_p.D314G|ABAT_ENST00000268251.8_Missense_Mutation_p.D314G	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	314					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.D314G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AAGCTGAGAGACATCGCCAGG	0.582																																					p.D314G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A941G	16						.						85.0	70.0	75.0					16																	8866761		2197	4300	6497	8774262	SO:0001583	missense	18	exon12			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.941A>G	16.37:g.8866761A>G	ENSP00000379845:p.Asp314Gly	Somatic		Capture	Illumina HiSeq	Phase_I	8774262	NM_001127448	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793144	0.31685	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.78481	-1.18;-1.18;-1.18	5.05	3.94	0.45596	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.100540	0.64402	D	0.000002	T	0.64853	0.2636	N	0.25485	0.75	0.43793	D	0.996339	B	0.06786	0.001	B	0.12837	0.008	T	0.57545	-0.7793	10	0.40728	T	0.16	-14.9282	10.4486	0.44509	0.854:0.0:0.0:0.1459	.	314	P80404	GABT_HUMAN	G	314	ENSP00000268251:D314G;ENSP00000379845:D314G;ENSP00000411916:D314G	ENSP00000268251:D314G	D	+	2	0	ABAT	8774262	1.000000	0.71417	0.794000	0.32065	0.770000	0.43624	5.784000	0.68990	0.746000	0.32786	0.459000	0.35465	GAC		0.582	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	
FOXL1	2300	broad.mit.edu	37	16	86612652	86612652	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:86612652T>C	ENST00000320241.3	+	1	538	c.323T>C	c.(322-324)gTc>gCc	p.V108A		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	108					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V108A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GACTGCTTCGTCAAGGTGCCC	0.632																																					p.V108A	NSCLC(163;308 2020 10889 11476 18208)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T323C	16						.						89.0	95.0	93.0					16																	86612652		2198	4300	6498	85170153	SO:0001583	missense	2300	exon1			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.323T>C	16.37:g.86612652T>C	ENSP00000326272:p.Val108Ala	Somatic		Capture	Illumina HiSeq	Phase_I	85170153	NM_005250	Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125381	0.77436	.	.	ENSG00000176678	ENST00000320241	D	0.95482	-3.72	3.93	3.93	0.45458	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.074554	0.53938	D	0.000041	D	0.97573	0.9205	M	0.88181	2.935	0.35211	D	0.775133	D	0.56968	0.978	D	0.67548	0.952	D	0.99963	1.1779	10	0.87932	D	0	.	12.0777	0.53653	0.0:0.0:0.0:1.0	.	108	Q12952	FOXL1_HUMAN	A	108	ENSP00000326272:V108A	ENSP00000326272:V108A	V	+	2	0	FOXL1	85170153	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.517000	0.81783	1.635000	0.50512	0.402000	0.26972	GTC		0.632	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250	
ZNF778	197320	broad.mit.edu	37	16	89293190	89293190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:89293190G>T	ENST00000433976.2	+	6	742	c.410G>T	c.(409-411)aGa>aTa	p.R137I	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.R95I	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R137I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACACGTGAGAACTCAAAAT	0.463																																					p.R137I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410T	16						.						78.0	82.0	81.0					16																	89293190		2045	4227	6272	87820691	SO:0001583	missense	197320	exon6			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.410G>T	16.37:g.89293190G>T	ENSP00000405289:p.Arg137Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87820691	NM_182531	Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787608	0.16258	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.26067	1.76;1.76	1.21	0.154	0.14901	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.18551	0.0445	L	0.45422	1.42	0.26863	N	0.96791	B;B	0.27068	0.167;0.104	B;B	0.28305	0.088;0.041	T	0.29610	-1.0006	9	0.56958	D	0.05	.	2.6721	0.05070	0.2141:0.3164:0.4695:0.0	.	95;137	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	I	137;95	ENSP00000405289:R137I;ENSP00000305203:R95I	ENSP00000305203:R95I	R	+	2	0	ZNF778	87820691	0.000000	0.05858	0.015000	0.15790	0.012000	0.07955	-0.202000	0.09451	0.079000	0.16929	-0.480000	0.04831	AGA		0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531	
NPRL3	8131	broad.mit.edu	37	16	148266	148266	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:148266C>A	ENST00000399953.3	-	8	1203	c.801G>T	c.(799-801)gaG>gaT	p.E267D	NPRL3_ENST00000399951.3_Missense_Mutation_p.E88D|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	267					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)	p.E267D(2)		endometrium(1)|large_intestine(3)|ovary(2)	6						GCAAGGACTTCTCATCACTGA	0.567																																					p.E88D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G264T	16						.						55.0	60.0	58.0					16																	148266		2157	4249	6406	88266	SO:0001583	missense	8131	exon6				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.801G>T	16.37:g.148266C>A	ENSP00000382834:p.Glu267Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88266	NM_001039476	D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.811070	0.90707	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.32	5.32	0.75619	.	0.096122	0.64402	D	0.000001	T	0.74688	0.3749	.	.	.	0.80722	D	1	P;P;D;D	0.69078	0.912;0.946;0.997;0.992	P;P;D;D	0.79108	0.597;0.671;0.992;0.989	T	0.67898	-0.5551	8	0.15066	T	0.55	-21.8527	18.3503	0.90336	0.0:1.0:0.0:0.0	.	189;242;242;267	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	D	267;242;88	.	ENSP00000262313:E242D	E	-	3	2	NPRL3	88266	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.791000	0.69045	2.653000	0.90120	0.655000	0.94253	GAG		0.567	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476	
ABCA3	21	broad.mit.edu	37	16	2353962	2353962	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:2353962G>T	ENST00000301732.5	-	12	2168				ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3						response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.?(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGGCATCAGAACTCACCAT	0.617																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						70.0	66.0	68.0					16																	2353962		2198	4300	6498	2293963	SO:0001627	intron_variant	21	.			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1467+7C>A	16.37:g.2353962G>T		Somatic		Capture	Illumina HiSeq	Phase_I	2293963	.	B2RU09|Q54A95|Q6P5P9|Q92473	Intron	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																				0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
CLUAP1	23059	broad.mit.edu	37	16	3554835	3554835	+	Intron	SNP	C	C	T	rs375525130		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:3554835C>T	ENST00000576634.1	+	2	278				CLUAP1_ENST00000341633.5_Intron|CLUAP1_ENST00000417763.2_Intron|CLUAP1_ENST00000571025.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TGAAAAGGTTCGAACGGCACT	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.	A		0,4394		0,0,2197	84.0	81.0	82.0			2.7	0.6	16		82	1,8599		0,1,4299	no	intron	CLUAP1	NM_015041.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077			3554835	1,12993	2197	4300	6497	3494836	SO:0001627	intron_variant	23059	.			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.134+4C>T	16.37:g.3554835C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3494836	.	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Intron	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.403	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
C16orf89	146556	broad.mit.edu	37	16	5097977	5097977	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:5097977G>A	ENST00000315997.5	-	7	1070				C16orf89_ENST00000350219.4_Intron|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Intron|C16orf89_ENST00000422873.1_Intron|C16orf89_ENST00000472572.3_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TGGGAGAAGAGCAAAAGTTGA	0.353																																					.												.	.	0			.	16						.						54.0	46.0	48.0					16																	5097977		1797	4065	5862	5037978	SO:0001627	intron_variant	146556	.				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.869-12C>T	16.37:g.5097977G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5037978	.	B4DUM5|Q8N2I3|Q8N4T1	Intron	SNP	ENST00000315997.5	37	CCDS42116.2																																																																																				0.353	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459	
USP7	7874	broad.mit.edu	37	16	8996252	8996252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:8996252C>T	ENST00000344836.4	-	17	2125	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	USP7_ENST00000535863.1_Missense_Mutation_p.D544N|USP7_ENST00000381886.4_Missense_Mutation_p.D627N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	643	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D643N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTATTGCCGTCGGCTTCATTA	0.413																																					p.D643N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1927A	16						.						90.0	79.0	83.0					16																	8996252		2197	4300	6497	8903753	SO:0001583	missense	7874	exon17			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1927G>A	16.37:g.8996252C>T	ENSP00000343535:p.Asp643Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8903753	NM_003470	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903790	0.72754	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08008	3.14;3.16	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.72118	2.19	0.80722	D	1	B;B	0.29432	0.244;0.244	B;B	0.17433	0.01;0.018	T	0.07868	-1.0750	10	0.22706	T	0.39	.	19.0576	0.93072	0.0:1.0:0.0:0.0	.	643;627	Q93009;B7Z815	UBP7_HUMAN;.	N	643;651;544;544	ENSP00000343535:D643N;ENSP00000443646:D544N	ENSP00000343535:D643N	D	-	1	0	USP7	8903753	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	7.726000	0.84824	2.503000	0.84419	0.555000	0.69702	GAC		0.413	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
GRIN2A	2903	broad.mit.edu	37	16	9858249	9858249	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:9858249T>C	ENST00000396573.2	-	14	3461	c.3152A>G	c.(3151-3153)tAt>tGt	p.Y1051C	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Y1051C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Y894C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Y1051C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Y1051C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Y1051C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1051					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Y1051C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCTGGAAGATACCTAGGGCT	0.512																																					p.Y1051C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3152G	16						.						133.0	138.0	136.0					16																	9858249		2197	4300	6497	9765750	SO:0001583	missense	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3152A>G	16.37:g.9858249T>C	ENSP00000379818:p.Tyr1051Cys	Somatic		Capture	Illumina HiSeq	Phase_I	9765750	NM_001134408	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732011	0.48939	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.24538	1.85;1.88;1.93;1.85;1.85	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.055152	0.85682	D	0.000000	T	0.48960	0.1529	M	0.78637	2.42	0.50813	D	0.999899	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.982;0.989;0.947	T	0.50617	-0.8807	9	.	.	.	.	9.8442	0.41017	0.1527:0.0:0.0:0.8473	.	894;1051;1051	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	C	1051;1051;894;1051;1051	ENSP00000379818:Y1051C;ENSP00000385872:Y1051C;ENSP00000441572:Y894C;ENSP00000332549:Y1051C;ENSP00000379820:Y1051C	.	Y	-	2	0	GRIN2A	9765750	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.635000	0.61332	2.016000	0.59253	0.533000	0.62120	TAT		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
C16orf62	57020	broad.mit.edu	37	16	19639951	19639951	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:19639951T>C	ENST00000251143.5	+	17	1395				C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000438132.3_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000448695.1_Intron			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GTTTGACATGTTTCTTAGCAT	0.378																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	16						.						140.0	136.0	138.0					16																	19639951		2197	4300	6497	19547452	SO:0001627	intron_variant	57020	.				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1384-8T>C	16.37:g.19639951T>C		Somatic		Capture	Illumina HiSeq	Phase_I	19547452	.	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Intron	SNP	ENST00000251143.5	37																																																																																					0.378	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
ERI2	112479	broad.mit.edu	37	16	20814256	20814256	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:20814256G>T	ENST00000357967.4	-	4	218				ERI2_ENST00000563117.1_Intron|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Intron|ERI2_ENST00000569729.1_Intron|ERI2_ENST00000568251.1_5'Flank	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2								exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTAAATGAAAGAATAATCAAT	0.318																																					.												.	.	0			.	16						.						33.0	32.0	32.0					16																	20814256		2200	4300	6500	20721757	SO:0001627	intron_variant	112479	.			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.176-11C>A	16.37:g.20814256G>T		Somatic		Capture	Illumina HiSeq	Phase_I	20721757	.	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Intron	SNP	ENST00000357967.4	37	CCDS45436.1																																																																																				0.318	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663	
DNAH3	55567	broad.mit.edu	37	16	21147639	21147639	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:21147639C>T	ENST00000261383.3	-	6	886				DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.?(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCCACCAGCCTTACCGATG	0.498																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	16						.						94.0	88.0	90.0					16																	21147639		2201	4300	6501	21055140	SO:0001627	intron_variant	55567	.			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.886+5G>A	16.37:g.21147639C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21055140	.	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Intron	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
VWA3A	146177	broad.mit.edu	37	16	22149842	22149842	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:22149842C>T	ENST00000389398.5	+	22	2388				VWA3A_ENST00000389397.4_Intron	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region (GO:0005576)		p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGGTTTGACTCCCCTCCTAAT	0.542																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						41.0	43.0	43.0					16																	22149842		1909	4116	6025	22057343	SO:0001627	intron_variant	146177	.			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2292+9C>T	16.37:g.22149842C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22057343	.	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Intron	SNP	ENST00000389398.5	37	CCDS45441.1																																																																																				0.542	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
PALB2	79728	broad.mit.edu	37	16	23634280	23634280	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23634280C>T	ENST00000261584.4	-	9	3149				CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2						DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCAATCAATGCTTTTCTTACC	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													.		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Unknown(1)	large_intestine(1)	.	16						.						152.0	141.0	145.0					16																	23634280		2197	4300	6497	23541781	SO:0001627	intron_variant	79728	.				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2996+9G>A	16.37:g.23634280C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23541781	.	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Intron	SNP	ENST00000261584.4	37	CCDS32406.1																																																																																				0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
CHP2	63928	broad.mit.edu	37	16	23767521	23767521	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:23767521T>C	ENST00000300113.2	+	4	775					NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2						cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CACTGTGAGTTTGTGAGGACC	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						56.0	58.0	57.0					16																	23767521		2197	4300	6497	23675022	SO:0001627	intron_variant	63928	.				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.352+7T>C	16.37:g.23767521T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23675022	.	A8K2I8	Intron	SNP	ENST00000300113.2	37	CCDS10617.1																																																																																				0.527	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097	
TNRC6A	27327	broad.mit.edu	37	16	24826637	24826637	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:24826637T>G	ENST00000395799.3	+	19	4960				CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Intron|TNRC6A_ENST00000432286.2_Intron	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A						cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTAAAATTTTTTCTAACACTT	0.463																																					.												.	.	0			.	16						.						31.0	31.0	31.0					16																	24826637		2197	4300	6497	24734138	SO:0001627	intron_variant	27327	.			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4831+11T>G	16.37:g.24826637T>G		Somatic		Capture	Illumina HiSeq	Phase_I	24734138	.	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Intron	SNP	ENST00000395799.3	37	CCDS10624.2																																																																																				0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
STX4	6810	broad.mit.edu	37	16	31051129	31051129	+	3'UTR	SNP	G	G	A	rs34576482		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31051129G>A	ENST00000313843.3	+	0	1214				STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGATAATGTCGCACATTGTTG	0.577																																					.												.	.	0			.	16						.						258.0	195.0	216.0					16																	31051129		2197	4300	6497	30958630	SO:0001624	3_prime_UTR_variant	6810	.			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.*5G>A	16.37:g.31051129G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30958630	.	A8MXY0|Q15525|Q6FHE8	3'UTR	SNP	ENST00000313843.3	37	CCDS10700.1																																																																																				0.577	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604	
BCKDK	10295	broad.mit.edu	37	16	31122408	31122408	+	Intron	SNP	G	G	A	rs200045337		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:31122408G>A	ENST00000394951.1	+	10	1339				BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Intron|BCKDK_ENST00000394950.3_Intron|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase						branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|stomach(1)	2						GCTCCTATCCGCAGACGCCTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17274	0.001		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						58.0	58.0	58.0					16																	31122408		2197	4300	6497	31029909	SO:0001627	intron_variant	10295	.			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.717-4G>A	16.37:g.31122408G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31029909	.	A8MY43|Q6FGL4|Q96G95|Q96IN5	Intron	SNP	ENST00000394951.1	37	CCDS10705.1																																																																																				0.567	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	
LONP2	83752	broad.mit.edu	37	16	48311243	48311243	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:48311243C>A	ENST00000285737.4	+	8	1334				LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TACTTGCTTTCTCTAGGCGCA	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						105.0	97.0	100.0					16																	48311243		2200	4300	6500	46868744	SO:0001627	intron_variant	83752	.			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1242-6C>A	16.37:g.48311243C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46868744	.		Intron	SNP	ENST00000285737.4	37	CCDS10734.1																																																																																				0.468	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
N4BP1	9683	broad.mit.edu	37	16	48582026	48582026	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:48582026C>A	ENST00000262384.3	-	5	2354		c.e5-1		N4BP1_ENST00000565423.1_Splice_Site	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1						cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.?(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAGTAGAAACCTATGGTAATA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						92.0	93.0	93.0					16																	48582026		1826	4081	5907	47139527	SO:0001630	splice_region_variant	9683	.			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2118-1G>T	16.37:g.48582026C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47139527	.	A7MD49|Q2YDX1	Splice_Site	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983693	0.74474	.	.	ENSG00000102921	ENST00000262384	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.091	0.97817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	N4BP1	47139527	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.845000	0.75394	2.755000	0.94549	0.591000	0.81541	.		0.358	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	Intron
NKD1	85407	broad.mit.edu	37	16	50659384	50659384	+	Intron	SNP	C	C	T	rs375568346		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:50659384C>T	ENST00000268459.3	+	6	590					NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CCGCCCATCTCTCTGCATCCA	0.627																																					.												.	.	0			.	16						.						78.0	64.0	68.0					16																	50659384		2198	4300	6498	49216885	SO:0001627	intron_variant	85407	.			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.367-12C>T	16.37:g.50659384C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49216885	.	B2RC39|Q8WZ08	Intron	SNP	ENST00000268459.3	37	CCDS10743.1																																																																																				0.627	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
MMP2	4313	broad.mit.edu	37	16	55536683	55536683	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55536683C>A	ENST00000219070.4	+	12	2278				MMP2_ENST00000543485.1_Intron|MMP2_ENST00000570308.1_Intron|MMP2_ENST00000437642.2_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)						angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGTCTGTTTCTTTACAGATA	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						71.0	63.0	66.0					16																	55536683		2198	4300	6498	54094184	SO:0001627	intron_variant	4313	.				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1770-8C>A	16.37:g.55536683C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54094184	.	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Intron	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.547	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
CES5A	221223	broad.mit.edu	37	16	55897255	55897255	+	Intron	SNP	C	C	T	rs565417887		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:55897255C>T	ENST00000290567.9	-	6	932				CES5A_ENST00000521992.1_Intron|CES5A_ENST00000518005.1_Intron|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAACAGTATACGTACGTCCTC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23040	0.0		0.0	False		,,,				2504	0.0				.												.	.	2	Unknown(2)	large_intestine(2)	.	16						.						165.0	130.0	142.0					16																	55897255		2198	4300	6498	54454756	SO:0001627	intron_variant	221223	.			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.810+4G>A	16.37:g.55897255C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54454756	.	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Intron	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																				0.512	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
MT1G	4495	broad.mit.edu	37	16	56701301	56701301	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56701301G>T	ENST00000379811.3	-	2	100				MT1H_ENST00000569155.1_5'Flank|MT1H_ENST00000332374.4_5'Flank|MT1G_ENST00000444837.2_Intron|MT1G_ENST00000568675.1_Intron|MT1G_ENST00000569500.1_Intron			P13640	MT1G_HUMAN	metallothionein 1G						cellular response to cadmium ion (GO:0071276)|cellular response to copper ion (GO:0071280)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cellular response to zinc ion (GO:0071294)|monocyte activation (GO:0042117)|monocyte differentiation (GO:0030224)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.?(1)		kidney(2)|large_intestine(1)|lung(2)	5						TGCTAGAAGAGAAAAAGCCAG	0.567																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						64.0	65.0	65.0					16																	56701301		2198	4300	6498	55258802	SO:0001627	intron_variant	4495	.			BC020757	CCDS10766.1	16q13	2008-02-05			ENSG00000125144	ENSG00000125144		"""Metallothioneins"""	7399	protein-coding gene	gene with protein product	"""metallothionein 1K"""	156353		MT1		3403543, 6089206	Standard	NM_001301267		Approved	MT1K	uc002eju.1	P13640	OTTHUMG00000133275	ENST00000379811.3:c.29-9C>A	16.37:g.56701301G>T		Somatic		Capture	Illumina HiSeq	Phase_I	55258802	.	P80296	Intron	SNP	ENST00000379811.3	37																																																																																					0.567	MT1G-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000257054.1	NM_005950	
NUP93	9688	broad.mit.edu	37	16	56864434	56864434	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56864434T>G	ENST00000308159.5	+	10	1048				NUP93_ENST00000569842.1_Intron|NUP93_ENST00000564887.1_Intron|NUP93_ENST00000542526.1_Intron	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.?(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACTGTTCCTCTTTTAGGATGG	0.458																																					.	Colon(33;610 796 1305 1705 38917)											.	.	1	Unknown(1)	large_intestine(1)	.	16						.						119.0	119.0	119.0					16																	56864434		2198	4300	6498	55421935	SO:0001627	intron_variant	9688	.			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.928-6T>G	16.37:g.56864434T>G		Somatic		Capture	Illumina HiSeq	Phase_I	55421935	.	B3KPQ8|Q14705	Intron	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																				0.458	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
SLC12A3	6559	broad.mit.edu	37	16	56947318	56947318	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:56947318C>A	ENST00000563236.1	+	0	3092				SLC12A3_ENST00000262502.5_3'UTR|SLC12A3_ENST00000563352.1_3'UTR|SLC12A3_ENST00000438926.2_3'UTR			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGCCAGTAACTCCAGGCTTT	0.527																																					.												.	.	0			.	16						.						144.0	119.0	127.0					16																	56947318		2198	4300	6498	55504819	SO:0001624	3_prime_UTR_variant	6559	.				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.*1C>A	16.37:g.56947318C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55504819	.	A8MSJ2|C9JNN9	3'UTR	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																				0.527	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CNGB1	1258	broad.mit.edu	37	16	57983250	57983250	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:57983250G>T	ENST00000251102.8	-	14	1182				CNGB1_ENST00000564448.1_Intron|CNGB1_ENST00000564654.1_5'Flank	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1						cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTGAGCAAATGACTTACTCAG	0.562																																					.	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Unknown(1)	large_intestine(1)	.	16						.						79.0	100.0	93.0					16																	57983250		2165	4261	6426	56540751	SO:0001627	intron_variant	1258	.			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1121+6C>A	16.37:g.57983250G>T		Somatic		Capture	Illumina HiSeq	Phase_I	56540751	.	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Intron	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
LINC00922	283867	broad.mit.edu	37	16	65319313	65319313	+	lincRNA	SNP	G	G	T	rs373554775		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:65319313G>T	ENST00000569736.1	-	0	848				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		CTCCACAGGAGAATCTTAATG	0.502																																					.												.	.	0			.	16						.	G		0,3862		0,0,1931	132.0	128.0	129.0			1.6	0.0	16		129	1,8293		0,1,4146	no	intergenic				0,1,6077	TT,TG,GG		0.0121,0.0,0.0082			65319313	1,12155	1931	4147	6078	63876814			283867	.			BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65319313G>T		Somatic		Capture	Illumina HiSeq	Phase_I	63876814	.		3'UTR	SNP	ENST00000569736.1	37																																																																																					0.502	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755	
CES4A	283848	broad.mit.edu	37	16	67036966	67036966	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:67036966C>A	ENST00000326686.5	+	6	690				CES4A_ENST00000541479.1_Intron|CES4A_ENST00000398354.1_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000540579.1_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.?(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCTCCCTGTTCTTGCAGATGA	0.552																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						91.0	89.0	90.0					16																	67036966		1966	4155	6121	65594467	SO:0001627	intron_variant	283848	.			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.691-7C>A	16.37:g.67036966C>A		Somatic		Capture	Illumina HiSeq	Phase_I	65594467	.	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Intron	SNP	ENST00000326686.5	37																																																																																					0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	
HYDIN	54768	broad.mit.edu	37	16	70952338	70952338	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:70952338G>T	ENST00000393567.2	-	47	7936					NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.?(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGATCTAAAGGAAAGGCCCA	0.493																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	16						.						2.0	3.0	3.0					16																	70952338		1537	3559	5096	69509839	SO:0001627	intron_variant	54768	.			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7786-6C>A	16.37:g.70952338G>T		Somatic		Capture	Illumina HiSeq	Phase_I	69509839	.	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Intron	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71163538	71163538	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71163538C>T	ENST00000393567.2	-	9	1378				HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000288168.10_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000448691.1_Intron	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.?(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATTTATATGCTCACCAGGGG	0.488																																					.												.	.	4	Unknown(4)	large_intestine(4)	.	16						.						27.0	28.0	28.0					16																	71163538		2198	4299	6497	69721039	SO:0001627	intron_variant	54768	.			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1227+4G>A	16.37:g.71163538C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69721039	.	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Intron	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
IST1	9798	broad.mit.edu	37	16	71956372	71956372	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:71956372C>A	ENST00000378799.6	+	7	908				RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538565.1_Intron|IST1_ENST00000329908.8_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000606369.1_Intron|IST1_ENST00000544564.1_Intron|IST1_ENST00000378798.5_Intron|IST1_ENST00000535424.1_Intron|IST1_ENST00000541571.2_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.?(1)									CTCTTTTTTTCTCAGGCAGAA	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						94.0	102.0	99.0					16																	71956372		2198	4300	6498	70513873	SO:0001627	intron_variant	9798	.			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.553-5C>A	16.37:g.71956372C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70513873	.	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Intron	SNP	ENST00000378799.6	37	CCDS59272.1																																																																																				0.488	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	
TXNL4B	54957	broad.mit.edu	37	16	72120530	72120530	+	3'UTR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:72120530A>G	ENST00000268483.3	-	0	777				RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_3'UTR|TXNL4B_ENST00000423037.1_3'UTR	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B						mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GACAGCAATTAATGTACTAAA	0.423																																					.												.	.	0			.	16						.						101.0	98.0	99.0					16																	72120530		2198	4300	6498	70678031	SO:0001624	3_prime_UTR_variant	54957	.			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.*6T>C	16.37:g.72120530A>G		Somatic		Capture	Illumina HiSeq	Phase_I	70678031	.	D3DWS6	3'UTR	SNP	ENST00000268483.3	37	CCDS10906.1																																																																																				0.423	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853	
ADAMTS18	170692	broad.mit.edu	37	16	77329034	77329034	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:77329034C>T	ENST00000282849.5	-	19	3220					NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTTTCAGTGCAAAACAAACA	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						57.0	43.0	47.0					16																	77329034		2198	4300	6498	75886535	SO:0001627	intron_variant	170692	.			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2802-10G>A	16.37:g.77329034C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75886535	.	Q6P4R5|Q6ZWJ9	Intron	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.453	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
SPG7	6687	broad.mit.edu	37	16	89590546	89590546	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr16:89590546T>C	ENST00000268704.2	+	4	524	c.509T>C	c.(508-510)tTt>tCt	p.F170S	SPG7_ENST00000341316.2_Missense_Mutation_p.F170S	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	170					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.F170S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGGAACGACTTTGTCCACGAG	0.612																																					p.F170S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T509C	16						.						104.0	93.0	97.0					16																	89590546		2198	4300	6498	88118047	SO:0001583	missense	6687	exon4			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.509T>C	16.37:g.89590546T>C	ENSP00000268704:p.Phe170Ser	Somatic		Capture	Illumina HiSeq	Phase_I	88118047	NM_003119	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	T	32	5.147444	0.94603	.	.	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	D;D	0.90900	-2.75;-2.75	5.7	5.7	0.88788	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96725	0.9535	10	0.87932	D	0	.	15.9707	0.80013	0.0:0.0:0.0:1.0	.	170;170	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	S	170;170;147	ENSP00000268704:F170S;ENSP00000341157:F170S	ENSP00000268704:F170S	F	+	2	0	SPG7	88118047	1.000000	0.71417	0.957000	0.39632	0.880000	0.50808	7.869000	0.87170	2.177000	0.69029	0.459000	0.35465	TTT		0.612	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	
SPATA22	84690	broad.mit.edu	37	17	3343511	3343512	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3343511_3343512insT	ENST00000573128.1	-	9	1504_1505	c.1021_1022insA	c.(1021-1023)actfs	p.T341fs	SPATA22_ENST00000575375.1_Frame_Shift_Ins_p.T341fs|SPATA22_ENST00000397168.3_Frame_Shift_Ins_p.T341fs|SPATA22_ENST00000572969.1_Frame_Shift_Ins_p.T341fs|SPATA22_ENST00000355380.4_Frame_Shift_Ins_p.T298fs|SPATA22_ENST00000541913.1_Frame_Shift_Ins_p.T325fs			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	341					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.T341fs*12(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TGCCTGGAAAGTTTTTTGTTCA	0.351																																					p.T341fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1022_1023insA	17						.																																			3290262	SO:0001589	frameshift_variant	84690	exon9			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1022dupA	17.37:g.3343517_3343517dupT	ENSP00000459580:p.Thr341fs	Somatic		Capture	Illumina HiSeq	Phase_I	3290261	NM_001170697	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Frame_Shift_Ins	INS	ENST00000573128.1	37	CCDS11027.1																																																																																				0.351	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598	
MYH13	8735	broad.mit.edu	37	17	10216010	10216010	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10216010C>T	ENST00000418404.3	-	30	4409	c.4246G>A	c.(4246-4248)Gca>Aca	p.A1416T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1416T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1416					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A1416T(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCAACGATGCGCACTTGGAG	0.547																																					p.A1416T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4246A	17						.						50.0	55.0	53.0					17																	10216010		2195	4298	6493	10156735	SO:0001583	missense	8735	exon31			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4246G>A	17.37:g.10216010C>T	ENSP00000404570:p.Ala1416Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10156735	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815211	0.50527	.	.	ENSG00000006788	ENST00000252172	T	0.78364	-1.17	3.96	2.9	0.33743	Myosin tail (1);	.	.	.	.	D	0.85440	0.5697	M	0.81942	2.565	0.35409	D	0.792264	P	0.38473	0.633	P	0.52909	0.713	D	0.90727	0.4639	9	0.87932	D	0	.	13.4575	0.61208	0.1566:0.8434:0.0:0.0	.	1416	Q9UKX3	MYH13_HUMAN	T	1416	ENSP00000252172:A1416T	ENSP00000252172:A1416T	A	-	1	0	MYH13	10156735	0.000000	0.05858	0.907000	0.35723	0.520000	0.34377	-0.335000	0.07873	2.207000	0.71202	0.462000	0.41574	GCA		0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH8	4626	broad.mit.edu	37	17	10295923	10295923	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10295923C>T	ENST00000403437.2	-	38	5598	c.5504G>A	c.(5503-5505)cGt>cAt	p.R1835H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1835					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1835H(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTGCATTACGTTTCTGTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1835H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5504A	17						.						199.0	185.0	190.0					17																	10295923		2203	4300	6503	10236648	SO:0001583	missense	4626	exon38	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5504G>A	17.37:g.10295923C>T	ENSP00000384330:p.Arg1835His	Somatic		Capture	Illumina HiSeq	Phase_I	10236648	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151132	0.57151	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.03	4.06	0.47325	Myosin tail (1);	0.000000	0.42548	U	0.000684	D	0.86585	0.5968	M	0.90759	3.145	0.41115	D	0.985773	B	0.22346	0.068	B	0.30316	0.114	D	0.86070	0.1537	10	0.54805	T	0.06	.	13.7495	0.62899	0.0:0.9261:0.0:0.0739	.	1835	P13535	MYH8_HUMAN	H	1835	ENSP00000384330:R1835H	ENSP00000252173:R1835H	R	-	2	0	MYH8	10236648	0.901000	0.30685	0.991000	0.47740	0.998000	0.95712	2.449000	0.44935	1.344000	0.45657	0.650000	0.86243	CGT		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10310122	10310122	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10310122C>T	ENST00000403437.2	-	19	2150	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	686	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A686T(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCCATTGCCCCTAAAAAT	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A686T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2056A	17						.						76.0	71.0	73.0					17																	10310122		2203	4300	6503	10250847	SO:0001583	missense	4626	exon19	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2056G>A	17.37:g.10310122C>T	ENSP00000384330:p.Ala686Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10250847	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264173	0.39995	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87103	-2.21	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000883	T	0.75332	0.3835	N	0.10733	0.035	0.39556	D	0.969043	B	0.02656	0.0	B	0.08055	0.003	T	0.73341	-0.4013	10	0.66056	D	0.02	.	12.9997	0.58667	0.0:0.9228:0.0:0.0772	.	686	P13535	MYH8_HUMAN	T	686	ENSP00000384330:A686T	ENSP00000252173:A686T	A	-	1	0	MYH8	10250847	0.001000	0.12720	1.000000	0.80357	0.985000	0.73830	0.482000	0.22276	2.652000	0.90054	0.650000	0.86243	GCA		0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10316031	10316031	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10316031C>A	ENST00000403437.2	-	13	1256	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	388	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A388S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGAGATAGGCTGCCTTGTCA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A388S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162T	17						.						208.0	191.0	197.0					17																	10316031		2203	4300	6503	10256756	SO:0001583	missense	4626	exon13	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1162G>T	17.37:g.10316031C>A	ENSP00000384330:p.Ala388Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10256756	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565273	0.86439	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90069	-2.61	4.86	4.86	0.63082	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000884	D	0.91036	0.7180	L	0.52266	1.64	0.80722	D	1	B	0.15719	0.014	B	0.43413	0.419	D	0.88088	0.2811	10	0.41790	T	0.15	.	18.1925	0.89812	0.0:1.0:0.0:0.0	.	388	P13535	MYH8_HUMAN	S	388	ENSP00000384330:A388S	ENSP00000252173:A388S	A	-	1	0	MYH8	10256756	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.607000	0.82883	2.541000	0.85698	0.650000	0.86243	GCC		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10318806	10318806	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10318806C>T	ENST00000403437.2	-	7	725	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	211	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E211K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAGATTCATCCTTCTTC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	17						.						132.0	126.0	128.0					17																	10318806		2203	4300	6503	10259531	SO:0001583	missense	4626	exon7	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.631G>A	17.37:g.10318806C>T	ENSP00000384330:p.Glu211Lys	Somatic		Capture	Illumina HiSeq	Phase_I	10259531	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463059	0.26248	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71461	-0.57	4.49	4.49	0.54785	Myosin head, motor domain (2);	0.000000	0.42294	U	0.000737	T	0.55065	0.1897	N	0.12920	0.275	0.23030	N	0.998405	B	0.02656	0.0	B	0.14578	0.011	T	0.35847	-0.9772	10	0.24483	T	0.36	.	17.4267	0.87528	0.0:1.0:0.0:0.0	.	211	P13535	MYH8_HUMAN	K	211	ENSP00000384330:E211K	ENSP00000252173:E211K	E	-	1	0	MYH8	10259531	0.000000	0.05858	0.885000	0.34714	0.962000	0.63368	-0.547000	0.06055	2.352000	0.79861	0.650000	0.86243	GAA		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10322059	10322059	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10322059C>T	ENST00000403437.2	-	5	508	c.414G>A	c.(412-414)aaG>aaA	p.K138K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	138	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.K138K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCACCTCGGGCTTGTACACCG	0.527									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.K138K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G414A	17						.						47.0	56.0	53.0					17																	10322059		2202	4279	6481	10262784	SO:0001819	synonymous_variant	4626	exon5	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.414G>A	17.37:g.10322059C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10262784	NM_002472	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																				0.527	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512																																					p.A1781T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G5341A	17						.						128.0	126.0	126.0					17																	10348418		2203	4298	6501	10289143	SO:0001583	missense	4622	exon37				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5341G>A	17.37:g.10348418C>T	ENSP00000255381:p.Ala1781Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10289143	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	MYH4	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC		0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH4	4622	broad.mit.edu	37	17	10359163	10359163	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10359163C>T	ENST00000255381.2	-	18	2134	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R675Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GATGATGCACCGCACAAAGTG	0.433																																					p.R675Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2024A	17						.						143.0	143.0	143.0					17																	10359163		2203	4297	6500	10299888	SO:0001583	missense	4622	exon18				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2024G>A	17.37:g.10359163C>T	ENSP00000255381:p.Arg675Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10299888	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907621	0.92107	.	.	ENSG00000141048	ENST00000255381	D	0.90563	-2.69	4.87	4.87	0.63330	Myosin head, motor domain (2);	0.000000	0.36628	U	0.002491	D	0.97353	0.9134	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99110	1.0846	10	0.87932	D	0	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	675	Q9Y623	MYH4_HUMAN	Q	675	ENSP00000255381:R675Q	ENSP00000255381:R675Q	R	-	2	0	MYH4	10299888	1.000000	0.71417	0.979000	0.43373	0.930000	0.56654	4.855000	0.62925	2.403000	0.81681	0.455000	0.32223	CGG		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10400685	10400685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10400685C>A	ENST00000226207.5	-	32	4544	c.4450G>T	c.(4450-4452)Gaa>Taa	p.E1484*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1484					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1484*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAAATAGTTCTGTGCTGAGT	0.383																																					p.E1484X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4450T	17						.						79.0	78.0	78.0					17																	10400685		2203	4300	6503	10341410	SO:0001587	stop_gained	4619	exon32				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4450G>T	17.37:g.10400685C>A	ENSP00000226207:p.Glu1484*	Somatic		Capture	Illumina HiSeq	Phase_I	10341410	NM_005963	Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	43	10.483897	0.99413	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.76	5.76	0.90799	.	0.000000	0.43747	U	0.000536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	.	.	.	X	1484;573	.	ENSP00000226207:E1484X	E	-	1	0	MYH1	10341410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.871000	0.98454	0.655000	0.94253	GAA		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10404997	10404997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10404997C>A	ENST00000226207.5	-	26	3356	c.3262G>T	c.(3262-3264)Gag>Tag	p.E1088*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1088					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1088*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTCAAACTCTTTCCTATTA	0.363																																					p.E1088X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3262T	17						.						91.0	86.0	88.0					17																	10404997		2203	4299	6502	10345722	SO:0001587	stop_gained	4619	exon26				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3262G>T	17.37:g.10404997C>A	ENSP00000226207:p.Glu1088*	Somatic		Capture	Illumina HiSeq	Phase_I	10345722	NM_005963	Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	41	8.642992	0.98897	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.51	5.51	0.81932	.	0.155522	0.29417	U	0.012216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7865	0.96442	0.0:1.0:0.0:0.0	.	.	.	.	X	1088	.	ENSP00000226207:E1088X	E	-	1	0	MYH1	10345722	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.662000	0.83803	2.751000	0.94390	0.650000	0.86243	GAG		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10405129	10405129	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10405129T>C	ENST00000226207.5	-	25	3305	c.3211A>G	c.(3211-3213)Atg>Gtg	p.M1071V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1071					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.M1071V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTATATCCATTGTGGATTCT	0.348																																					p.M1071V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3211G	17						.						86.0	70.0	75.0					17																	10405129		2202	4298	6500	10345854	SO:0001583	missense	4619	exon25				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3211A>G	17.37:g.10405129T>C	ENSP00000226207:p.Met1071Val	Somatic		Capture	Illumina HiSeq	Phase_I	10345854	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852732	0.51270	.	.	ENSG00000109061	ENST00000226207	D	0.82433	-1.61	5.62	5.62	0.85841	.	0.000000	0.52532	U	0.000072	D	0.84991	0.5595	M	0.85197	2.74	0.58432	D	0.999995	B	0.02656	0.0	B	0.08055	0.003	T	0.82112	-0.0618	10	0.44086	T	0.13	.	16.1323	0.81449	0.0:0.0:0.0:1.0	.	1071	P12882	MYH1_HUMAN	V	1071	ENSP00000226207:M1071V	ENSP00000226207:M1071V	M	-	1	0	MYH1	10345854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.166000	0.71896	2.277000	0.76020	0.528000	0.53228	ATG		0.348	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10419604	10419604	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10419604T>G	ENST00000226207.5	-	4	354	c.260A>C	c.(259-261)aAg>aCg	p.K87T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	87	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K87T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTCGATCTTGTCATATTT	0.473																																					p.K87T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A260C	17						.						298.0	267.0	278.0					17																	10419604		2203	4300	6503	10360329	SO:0001583	missense	4619	exon4				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.260A>C	17.37:g.10419604T>G	ENSP00000226207:p.Lys87Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10360329	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454205	0.63290	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.72051	-0.62	5.39	5.39	0.77823	Myosin head, motor domain (1);	0.000000	0.45126	U	0.000397	T	0.72676	0.3490	M	0.73319	2.225	0.52099	D	0.99994	B	0.15930	0.015	B	0.27170	0.077	T	0.71636	-0.4533	10	0.62326	D	0.03	.	15.569	0.76320	0.0:0.0:0.0:1.0	.	87	P12882	MYH1_HUMAN	T	87	ENSP00000226207:K87T	ENSP00000226207:K87T	K	-	2	0	MYH1	10360329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.970000	0.63742	2.252000	0.74401	0.533000	0.62120	AAG		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH2	4620	broad.mit.edu	37	17	10433214	10433214	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10433214C>A	ENST00000245503.5	-	23	3259	c.2875G>T	c.(2875-2877)Gac>Tac	p.D959Y	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D959Y|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	959					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D959Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATCAATGTCTTTCTTGAGT	0.438																																					p.D959Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2875T	17						.						100.0	102.0	101.0					17																	10433214		2201	4280	6481	10373939	SO:0001583	missense	4620	exon23				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2875G>T	17.37:g.10433214C>A	ENSP00000245503:p.Asp959Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	10373939	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990555	0.74589	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.94723	-3.5;-3.5	5.15	5.15	0.70609	.	0.000000	0.41294	U	0.000905	D	0.98286	0.9432	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99357	1.0916	10	0.87932	D	0	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	959	Q9UKX2	MYH2_HUMAN	Y	959	ENSP00000245503:D959Y;ENSP00000380367:D959Y	ENSP00000245503:D959Y	D	-	1	0	MYH2	10373939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.663000	0.68038	2.661000	0.90470	0.591000	0.81541	GAC		0.438	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10438392	10438392	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10438392C>T	ENST00000245503.5	-	19	2562	c.2178G>A	c.(2176-2178)caG>caA	p.Q726Q	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.Q726Q|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	726	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q726Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAACTGACCTCTGTTTGAAGT	0.408																																					p.Q726Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2178A	17						.						84.0	83.0	83.0					17																	10438392		2203	4300	6503	10379117	SO:0001819	synonymous_variant	4620	exon19				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2178G>A	17.37:g.10438392C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10379117	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10438680	10438680	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10438680C>A	ENST00000245503.5	-	18	2361	c.1977G>T	c.(1975-1977)gaG>gaT	p.E659D	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E659D|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	659	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E659D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCAAATTCTCCTGTAAAA	0.393																																					p.E659D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1977T	17						.						77.0	75.0	76.0					17																	10438680		2203	4300	6503	10379405	SO:0001583	missense	4620	exon18				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1977G>T	17.37:g.10438680C>A	ENSP00000245503:p.Glu659Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10379405	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395469	0.83011	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.71579	-0.58;-0.58	4.97	4.0	0.46444	Myosin head, motor domain (2);	0.000000	0.39615	U	0.001312	D	0.82393	0.5027	M	0.83774	2.66	0.48975	D	0.999732	P	0.38565	0.637	P	0.57468	0.821	D	0.83658	0.0159	10	0.87932	D	0	.	9.7813	0.40649	0.0:0.8437:0.0:0.1563	.	659	Q9UKX2	MYH2_HUMAN	D	659	ENSP00000245503:E659D;ENSP00000380367:E659D	ENSP00000245503:E659D	E	-	3	2	MYH2	10379405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.210000	0.51129	1.323000	0.45263	0.655000	0.94253	GAG		0.393	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
TUSC5	286753	broad.mit.edu	37	17	1183439	1183439	+	Silent	SNP	G	G	A	rs201880858		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1183439G>A	ENST00000333813.3	+	1	483	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	48					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.S48S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGACCCTCTCGGGGCCTCTGG	0.637																																					p.S48S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	17						.						62.0	67.0	66.0					17																	1183439		1928	4124	6052	1130189	SO:0001819	synonymous_variant	286753	exon1			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.144G>A	17.37:g.1183439G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1130189	NM_172367	A6NMK4	Silent	SNP	ENST00000333813.3	37	CCDS42225.1																																																																																				0.637	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367	
ADPRM	56985	broad.mit.edu	37	17	10614254	10614254	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10614254C>A	ENST00000379774.4	+	4	913	c.822C>A	c.(820-822)ttC>ttA	p.F274L	ADPRM_ENST00000609540.1_Missense_Mutation_p.S273Y	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	274							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)	p.F274L(1)									TGGTGTGTTTCTTTGCTGGTC	0.502																																					p.F274L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C822A	17						.						229.0	189.0	203.0					17																	10614254		2203	4300	6503	10554979	SO:0001583	missense	56985	exon4			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.822C>A	17.37:g.10614254C>A	ENSP00000369099:p.Phe274Leu	Somatic		Capture	Illumina HiSeq	Phase_I	10554979	NM_020233	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775294	0.70107	.	.	ENSG00000170222	ENST00000379774	D	0.83591	-1.74	5.67	4.7	0.59300	Metallophosphoesterase domain (1);	0.156867	0.64402	D	0.000019	D	0.84047	0.5386	L	0.61218	1.895	0.80722	D	1	D	0.54207	0.965	P	0.52672	0.706	T	0.80863	-0.1192	10	0.18710	T	0.47	0.1556	11.2071	0.48775	0.0:0.8508:0.0:0.1492	.	274	Q3LIE5	ADPRM_HUMAN	L	274	ENSP00000369099:F274L	ENSP00000369099:F274L	F	+	3	2	C17orf48	10554979	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	1.409000	0.34680	1.400000	0.46741	0.591000	0.81541	TTC		0.502	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233	
DNAH9	1770	broad.mit.edu	37	17	11532850	11532850	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11532850G>A	ENST00000262442.4	+	7	1535	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M489I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	489	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.M489I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCAAGAGATGTACAGGCTTC	0.552																																					p.M489I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1467A	17						.						109.0	103.0	105.0					17																	11532850		2203	4300	6503	11473575	SO:0001583	missense	1770	exon7			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1467G>A	17.37:g.11532850G>A	ENSP00000262442:p.Met489Ile	Somatic		Capture	Illumina HiSeq	Phase_I	11473575	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469558	0.12461	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53857	0.6;0.6	5.61	2.36	0.29203	Dynein heavy chain, domain-1 (1);	0.259017	0.38720	N	0.001582	T	0.21062	0.0507	N	0.03050	-0.425	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03231	-1.1058	10	0.15066	T	0.55	.	4.8528	0.13545	0.2052:0.33:0.4648:0.0	.	489	Q9NYC9	DYH9_HUMAN	I	489	ENSP00000262442:M489I;ENSP00000414874:M489I	ENSP00000262442:M489I	M	+	3	0	DNAH9	11473575	0.999000	0.42202	1.000000	0.80357	0.199000	0.23934	0.459000	0.21908	0.737000	0.32582	-0.175000	0.13238	ATG		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11556149	11556149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11556149G>T	ENST00000262442.4	+	14	2493	c.2425G>T	c.(2425-2427)Gac>Tac	p.D809Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D809Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	809	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D809Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAAACTAAAGACAATGTGGA	0.353																																					p.D809Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2425T	17						.						117.0	114.0	115.0					17																	11556149		2203	4300	6503	11496874	SO:0001583	missense	1770	exon14			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2425G>T	17.37:g.11556149G>T	ENSP00000262442:p.Asp809Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	11496874	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441759	0.43326	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.29142	1.62;1.58	5.27	4.3	0.51218	.	0.402296	0.27193	N	0.020499	T	0.33118	0.0852	M	0.69358	2.11	0.80722	D	1	B	0.13145	0.007	B	0.13407	0.009	T	0.18650	-1.0330	10	0.66056	D	0.02	.	11.8574	0.52446	0.1458:0.0:0.8542:0.0	.	809	Q9NYC9	DYH9_HUMAN	Y	809	ENSP00000262442:D809Y;ENSP00000414874:D809Y	ENSP00000262442:D809Y	D	+	1	0	DNAH9	11496874	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.883000	0.63128	1.364000	0.46038	0.650000	0.86243	GAC		0.353	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11568239	11568239	+	Missense_Mutation	SNP	C	C	A	rs372074501		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11568239C>A	ENST00000262442.4	+	15	2753	c.2685C>A	c.(2683-2685)ttC>ttA	p.F895L	DNAH9_ENST00000454412.2_Missense_Mutation_p.F895L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	895	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F895L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAATGGATTCTTTCTTGCCA	0.378																																					p.F895L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2685A	17						.						144.0	144.0	144.0					17																	11568239		2203	4300	6503	11508964	SO:0001583	missense	1770	exon15			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2685C>A	17.37:g.11568239C>A	ENSP00000262442:p.Phe895Leu	Somatic		Capture	Illumina HiSeq	Phase_I	11508964	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156418	0.21454	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.20463	2.11;2.07	5.56	0.492	0.16872	.	0.190706	0.45606	D	0.000348	T	0.09642	0.0237	N	0.25789	0.76	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33828	-0.9853	10	0.02654	T	1	.	6.4938	0.22130	0.1207:0.6508:0.0:0.2285	.	895	Q9NYC9	DYH9_HUMAN	L	895	ENSP00000262442:F895L;ENSP00000414874:F895L	ENSP00000262442:F895L	F	+	3	2	DNAH9	11508964	0.992000	0.36948	1.000000	0.80357	0.976000	0.68499	0.743000	0.26231	0.134000	0.18681	0.563000	0.77884	TTC		0.378	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11573085	11573085	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11573085G>T	ENST00000262442.4	+	17	3395	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1109H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1109	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q1109H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTTCAAACAGCATCTTGTGG	0.418																																					p.Q1109H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3327T	17						.						133.0	133.0	133.0					17																	11573085		2197	4300	6497	11513810	SO:0001583	missense	1770	exon17			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3327G>T	17.37:g.11573085G>T	ENSP00000262442:p.Gln1109His	Somatic		Capture	Illumina HiSeq	Phase_I	11513810	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068001	0.55539	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27402	1.71;1.67	4.9	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.68952	2.095	0.80722	D	1	P	0.49783	0.928	P	0.53912	0.737	T	0.13656	-1.0501	10	0.34782	T	0.22	.	9.4369	0.38643	0.2233:0.0:0.7767:0.0	.	1109	Q9NYC9	DYH9_HUMAN	H	1109	ENSP00000262442:Q1109H;ENSP00000414874:Q1109H	ENSP00000262442:Q1109H	Q	+	3	2	DNAH9	11513810	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.832000	0.48152	0.558000	0.29135	0.591000	0.81541	CAG		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11607693	11607693	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11607693G>T	ENST00000262442.4	+	25	5393	c.5325G>T	c.(5323-5325)aaG>aaT	p.K1775N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1775N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1775	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K1775N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGGCAGAAGATTATGACTA	0.502																																					p.K1775N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5325T	17						.						100.0	94.0	96.0					17																	11607693		2203	4300	6503	11548418	SO:0001583	missense	1770	exon25			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5325G>T	17.37:g.11607693G>T	ENSP00000262442:p.Lys1775Asn	Somatic		Capture	Illumina HiSeq	Phase_I	11548418	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050152	0.55218	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.35048	1.37;1.33	5.91	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.82193	2.58	0.80722	D	1	P	0.42409	0.779	P	0.44518	0.452	T	0.54227	-0.8325	10	0.72032	D	0.01	.	11.9626	0.53017	0.1838:0.0:0.8162:0.0	.	1775	Q9NYC9	DYH9_HUMAN	N	1775;1775;357	ENSP00000262442:K1775N;ENSP00000414874:K1775N	ENSP00000262442:K1775N	K	+	3	2	DNAH9	11548418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	2.813000	0.96785	0.655000	0.94253	AAG		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11608363	11608363	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11608363C>A	ENST00000262442.4	+	26	5481	c.5413C>A	c.(5413-5415)Ctc>Atc	p.L1805I	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1805I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1805	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L1805I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCTTTCCTCTGGCTGTC	0.517																																					p.L1805I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5413A	17						.						186.0	159.0	168.0					17																	11608363		2203	4300	6503	11549088	SO:0001583	missense	1770	exon26			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5413C>A	17.37:g.11608363C>A	ENSP00000262442:p.Leu1805Ile	Somatic		Capture	Illumina HiSeq	Phase_I	11549088	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855516	0.32791	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25912	1.81;1.77	5.73	5.73	0.89815	.	0.330437	0.26231	N	0.025570	T	0.23289	0.0563	L	0.36672	1.1	0.80722	D	1	B	0.16802	0.019	B	0.16289	0.015	T	0.01771	-1.1277	10	0.42905	T	0.14	.	15.2775	0.73753	0.0:0.7536:0.2464:0.0	.	1805	Q9NYC9	DYH9_HUMAN	I	1805;1805;387	ENSP00000262442:L1805I;ENSP00000414874:L1805I	ENSP00000262442:L1805I	L	+	1	0	DNAH9	11549088	0.881000	0.30235	1.000000	0.80357	0.977000	0.68977	0.483000	0.22292	2.708000	0.92522	0.655000	0.94253	CTC		0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11686982	11686982	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11686982T>C	ENST00000262442.4	+	40	7806	c.7738T>C	c.(7738-7740)Tcc>Ccc	p.S2580P	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2580P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2580	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S2580P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCAAGCTGTCCCTAAAGGA	0.527																																					p.S2580P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7738C	17						.						113.0	83.0	94.0					17																	11686982		2203	4300	6503	11627707	SO:0001583	missense	1770	exon40			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7738T>C	17.37:g.11686982T>C	ENSP00000262442:p.Ser2580Pro	Somatic		Capture	Illumina HiSeq	Phase_I	11627707	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932796	0.52866	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.38722	1.12;1.12	5.59	1.77	0.24775	ATPase, AAA+ type, core (1);	0.502966	0.20510	N	0.090903	T	0.60196	0.2250	M	0.90483	3.12	0.09310	N	0.999998	P	0.48230	0.907	P	0.54026	0.74	T	0.54840	-0.8233	10	0.49607	T	0.09	.	10.3066	0.43685	0.3777:0.0:0.0:0.6223	.	2580	Q9NYC9	DYH9_HUMAN	P	2580;2580;1162	ENSP00000262442:S2580P;ENSP00000414874:S2580P	ENSP00000262442:S2580P	S	+	1	0	DNAH9	11627707	0.586000	0.26782	0.643000	0.29450	0.870000	0.49936	0.548000	0.23314	0.340000	0.23745	0.523000	0.50628	TCC		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
MAP2K4	6416	broad.mit.edu	37	17	12028657	12028657	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:12028657G>A	ENST00000353533.5	+	8	923	c.860G>A	c.(859-861)cGc>cAc	p.R287H	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R298H	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)|p.R287H(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATGATGTCCGCTCTGATGTC	0.398			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.R287H			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	15	Whole gene deletion(10)|Unknown(3)|Substitution - Missense(2)	breast(4)|ovary(4)|large_intestine(3)|lung(2)|biliary_tract(1)|pancreas(1)	c.G860A	17						.						251.0	196.0	215.0					17																	12028657		2203	4300	6503	11969382	SO:0001583	missense	6416	exon8			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.860G>A	17.37:g.12028657G>A	ENSP00000262445:p.Arg287His	Somatic		Capture	Illumina HiSeq	Phase_I	11969382	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244669	0.59103	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.21191	2.02;2.02	5.1	5.1	0.69264	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	0.48768	0.1518	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	T	0.49051	-0.8979	10	0.87932	D	0	.	17.8064	0.88602	0.0:0.0:1.0:0.0	.	159;298;287	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	H	287;298;264;159	ENSP00000262445:R287H;ENSP00000410402:R298H	ENSP00000262445:R287H	R	+	2	0	MAP2K4	11969382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.561000	0.98142	2.814000	0.96858	0.563000	0.77884	CGC		0.398	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
INPP5K	51763	broad.mit.edu	37	17	1401406	1401406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1401406G>A	ENST00000421807.2	-	8	1175	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	INPP5K_ENST00000397335.3_Missense_Mutation_p.R171C|INPP5K_ENST00000320345.6_Missense_Mutation_p.R187C|INPP5K_ENST00000406424.4_Missense_Mutation_p.R187C|INPP5K_ENST00000542125.1_Missense_Mutation_p.R167C	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	263	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)	p.R263C(2)|p.R187C(2)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GCAGGCTTGCGTTTTTTCTCA	0.577																																					p.R263C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C787T	17						.						77.0	84.0	82.0					17																	1401406		2203	4300	6503	1348156	SO:0001583	missense	51763	exon8				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.787C>T	17.37:g.1401406G>A	ENSP00000413937:p.Arg263Cys	Somatic		Capture	Illumina HiSeq	Phase_I	1348156	NM_016532	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496271	0.64186	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	D;D;D;D;D	0.97831	-4.56;-4.56;-4.56;-1.61;-4.56	5.53	4.55	0.56014	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98534	1.0629	10	0.87932	D	0	-11.3358	11.6844	0.51476	0.0:0.0:0.6792:0.3208	.	167;263	F5GXZ0;Q9BT40	.;INP5K_HUMAN	C	187;187;263;187;171;167;171	ENSP00000385177:R187C;ENSP00000318476:R187C;ENSP00000380496:R171C;ENSP00000440147:R167C;ENSP00000413259:R171C	ENSP00000318476:R187C	R	-	1	0	INPP5K	1348156	1.000000	0.71417	0.992000	0.48379	0.591000	0.36615	2.452000	0.44961	1.438000	0.47492	0.655000	0.94253	CGC		0.577	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
PRPF8	10594	broad.mit.edu	37	17	1559773	1559773	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1559773G>A	ENST00000572621.1	-	35	5971	c.5706C>T	c.(5704-5706)ttC>ttT	p.F1902F	PRPF8_ENST00000304992.6_Silent_p.F1902F|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1902	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.F1902F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGATCCCCGAATTTTTCCA	0.478																																					p.F1902F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5706T	17						.						117.0	113.0	115.0					17																	1559773		2203	4300	6503	1506523	SO:0001819	synonymous_variant	10594	exon36			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5706C>T	17.37:g.1559773G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1506523	NM_006445	O14547|O75965	Silent	SNP	ENST00000572621.1	37	CCDS11010.1																																																																																				0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
MYOCD	93649	broad.mit.edu	37	17	12666634	12666634	+	Silent	SNP	C	C	T	rs28730829	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:12666634C>T	ENST00000343344.4	+	13	2490	c.2490C>T	c.(2488-2490)agC>agT	p.S830S	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Silent_p.S878S			Q8IZQ8	MYCD_HUMAN	myocardin	830					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S830S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAATTGGGAGCGAAGAGCCTC	0.483													C|||	97	0.019369	0.0696	0.0072	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0				p.S878S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2634T	17						.	C	,	256,4150	148.0+/-182.4	6,244,1953	73.0	69.0	71.0		2634,2490	-9.9	0.0	17	dbSNP_125	71	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_153604.2	,	6,249,6248	TT,TC,CC		0.0581,5.8103,2.0068	,	878/987,830/939	12666634	261,12745	2203	4300	6503	12607359	SO:0001819	synonymous_variant	93649	exon14			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2490C>T	17.37:g.12666634C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12607359	NM_001146312	Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
PRPF8	10594	broad.mit.edu	37	17	1584931	1584931	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1584931G>A	ENST00000572621.1	-	5	972	c.707C>T	c.(706-708)tCg>tTg	p.S236L	PRPF8_ENST00000304992.6_Missense_Mutation_p.S236L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	236					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.S236L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTAGAGAGTCGACATCATAGG	0.473																																					p.S236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C707T	17						.						138.0	134.0	136.0					17																	1584931		2203	4300	6503	1531681	SO:0001583	missense	10594	exon6			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.707C>T	17.37:g.1584931G>A	ENSP00000460348:p.Ser236Leu	Somatic		Capture	Illumina HiSeq	Phase_I	1531681	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091478	0.76756	.	.	ENSG00000174231	ENST00000304992	T	0.80566	-1.39	5.84	5.84	0.93424	Pre-mRNA-processing-splicing factor 8 (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	M	0.72894	2.215	0.80722	D	1	B	0.31949	0.348	B	0.25884	0.064	T	0.80072	-0.1535	10	0.62326	D	0.03	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	236	Q6P2Q9	PRP8_HUMAN	L	236	ENSP00000304350:S236L	ENSP00000304350:S236L	S	-	2	0	PRPF8	1531681	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.835000	0.99442	2.763000	0.94921	0.650000	0.86243	TCG		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
TEKT3	64518	broad.mit.edu	37	17	15234731	15234731	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:15234731C>A	ENST00000395930.1	-	3	358	c.172G>T	c.(172-174)Gtc>Ttc	p.V58F	TEKT3_ENST00000338696.2_Missense_Mutation_p.V58F	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	58					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.V58F(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGAGGCGACTTTGTAGTAT	0.532																																					p.V58F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172T	17						.						119.0	115.0	116.0					17																	15234731		2203	4300	6503	15175456	SO:0001583	missense	64518	exon3			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.172G>T	17.37:g.15234731C>A	ENSP00000379263:p.Val58Phe	Somatic		Capture	Illumina HiSeq	Phase_I	15175456	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570874	0.45798	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.49432	4.0;4.0;1.37;1.36;0.78	5.22	4.25	0.50352	.	0.596736	0.18767	N	0.131701	T	0.47395	0.1443	L	0.55481	1.735	0.32530	N	0.535116	P	0.35944	0.529	B	0.41988	0.372	T	0.57493	-0.7802	10	0.33141	T	0.24	-12.7155	11.3591	0.49633	0.0:0.8461:0.0:0.1539	.	58	Q9BXF9	TEKT3_HUMAN	F	58	ENSP00000379263:V58F;ENSP00000343995:V58F;ENSP00000446111:V58F;ENSP00000439713:V58F;ENSP00000444180:V58F	ENSP00000343995:V58F	V	-	1	0	TEKT3	15175456	0.388000	0.25197	0.406000	0.26421	0.085000	0.17905	1.116000	0.31221	1.307000	0.44944	0.655000	0.94253	GTC		0.532	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	
ZNF286A	57335	broad.mit.edu	37	17	15620243	15620243	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:15620243G>T	ENST00000464847.2	+	5	1758	c.1205G>T	c.(1204-1206)aGa>aTa	p.R402I	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R402I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R392I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R402I|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R402I|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	402					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)	p.R402I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAGCATCAGAGAGTTCATACT	0.388																																					p.R402I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1205T	17						.						16.0	18.0	17.0					17																	15620243		2145	4245	6390	15560968	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1205G>T	17.37:g.15620243G>T	ENSP00000464218:p.Arg402Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15560968	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.995606	0.74703	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.02446	4.29;4.29	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000355	T	0.13970	0.0338	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00386	-1.1772	10	0.72032	D	0.01	-23.115	14.0549	0.64761	0.0:0.0:1.0:0.0	.	402	Q9HBT8	Z286A_HUMAN	I	402;392;402	ENSP00000397163:R402I;ENSP00000408168:R392I	ENSP00000435872:R402I	R	+	2	0	ZNF286A	15560968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.384000	0.73177	2.248000	0.74166	0.585000	0.79938	AGA		0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
ZNF286A	57335	broad.mit.edu	37	17	15620411	15620411	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:15620411G>T	ENST00000464847.2	+	5	1926	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	458					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)	p.R458I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAACATCAAAGAATTCATATT	0.408																																					p.R458I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1373T	17						.						58.0	64.0	62.0					17																	15620411		2203	4300	6503	15561136	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1373G>T	17.37:g.15620411G>T	ENSP00000464218:p.Arg458Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15561136	NM_020652	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250480	0.59212	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.02446	4.29;4.29	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000354	T	0.11452	0.0279	M	0.79475	2.455	0.58432	D	0.999991	D	0.67145	0.996	D	0.66196	0.942	T	0.00102	-1.2062	10	0.62326	D	0.03	-24.723	7.9552	0.30038	0.1106:0.0:0.8894:0.0	.	458	Q9HBT8	Z286A_HUMAN	I	458;448;458	ENSP00000397163:R458I;ENSP00000408168:R448I	ENSP00000435872:R458I	R	+	2	0	ZNF286A	15561136	0.914000	0.31030	1.000000	0.80357	0.998000	0.95712	1.855000	0.39378	2.296000	0.77279	0.650000	0.86243	AGA		0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
SERPINF1	5176	broad.mit.edu	37	17	1674380	1674380	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1674380G>A	ENST00000254722.4	+	4	504	c.341G>A	c.(340-342)aGc>aAc	p.S114N	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	114					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S114N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GACTTGATCAGCAGCCCAGAC	0.537																																					p.S114N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G341A	17						.						119.0	111.0	113.0					17																	1674380		2203	4300	6503	1621130	SO:0001583	missense	5176	exon4			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.341G>A	17.37:g.1674380G>A	ENSP00000254722:p.Ser114Asn	Somatic		Capture	Illumina HiSeq	Phase_I	1621130	NM_002615	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580593	0.28180	.	.	ENSG00000132386	ENST00000254722	T	0.36340	1.26	5.21	-6.76	0.01732	Serpin domain (3);	0.646074	0.17967	N	0.155975	T	0.13072	0.0317	N	0.05510	-0.035	0.58432	D	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.05903	-1.0857	10	0.27082	T	0.32	.	8.5833	0.33642	0.5189:0.3589:0.1222:0.0	.	114	P36955	PEDF_HUMAN	N	114	ENSP00000254722:S114N	ENSP00000254722:S114N	S	+	2	0	SERPINF1	1621130	0.696000	0.27757	0.941000	0.38009	0.966000	0.64601	-0.156000	0.10100	-0.693000	0.05121	-0.312000	0.09012	AGC		0.537	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	
SERPINF1	5176	broad.mit.edu	37	17	1679891	1679891	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1679891G>T	ENST00000254722.4	+	7	1015	c.852G>T	c.(850-852)caG>caT	p.Q284H		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	284					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q284H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AAGTGACCCAGAATTTGACCT	0.517																																					p.Q284H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	17						.						147.0	136.0	140.0					17																	1679891		2203	4300	6503	1626641	SO:0001583	missense	5176	exon7			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.852G>T	17.37:g.1679891G>T	ENSP00000254722:p.Gln284His	Somatic		Capture	Illumina HiSeq	Phase_I	1626641	NM_002615	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675437	0.67928	.	.	ENSG00000132386	ENST00000254722	D	0.84442	-1.85	5.58	4.61	0.57282	Serpin domain (3);	0.179111	0.51477	D	0.000091	D	0.90202	0.6937	M	0.62723	1.935	0.50813	D	0.999894	D	0.71674	0.998	D	0.66847	0.947	D	0.90804	0.4696	10	0.62326	D	0.03	.	14.1768	0.65546	0.0718:0.0:0.9282:0.0	.	284	P36955	PEDF_HUMAN	H	284	ENSP00000254722:Q284H	ENSP00000254722:Q284H	Q	+	3	2	SERPINF1	1626641	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.708000	0.47152	1.353000	0.45828	0.561000	0.74099	CAG		0.517	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	
NCOR1	9611	broad.mit.edu	37	17	15969004	15969004	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:15969004C>T	ENST00000268712.3	-	33	5003	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A	NCOR1_ENST00000395851.1_Silent_p.A1598A|NCOR1_ENST00000395857.3_Silent_p.A166A	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1582	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A1582A(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTAAGCAGCCGCTGCTGATT	0.423																																					p.A1598A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4794A	17						.						82.0	77.0	79.0					17																	15969004		2203	4300	6503	15909729	SO:0001819	synonymous_variant	9611	exon32			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4746G>A	17.37:g.15969004C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15909729	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
ZNF624	57547	broad.mit.edu	37	17	16527348	16527348	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:16527348G>A	ENST00000311331.7	-	6	943	c.852C>T	c.(850-852)gcC>gcT	p.A284A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	284					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)	p.A284A(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TATAATGAAAGGCCTTTTCGC	0.358																																					p.A284A	NSCLC(186;1023 2134 13330 38202 39800)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	17						.						135.0	141.0	139.0					17																	16527348		2203	4299	6502	16468073	SO:0001819	synonymous_variant	57547	exon6			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.852C>T	17.37:g.16527348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16468073	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	CCDS11180.1																																																																																				0.358	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
TNFRSF13B	23495	broad.mit.edu	37	17	16855772	16855772	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:16855772C>T	ENST00000261652.2	-	2	199	c.187G>A	c.(187-189)Gca>Aca	p.A63T	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.A63T|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000437538.2_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	63					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.A63T(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CAGAAGGCTGCACAGGTGCGC	0.597									IgA Deficiency, Selective																												p.A63T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	17						.						82.0	68.0	73.0					17																	16855772		2203	4300	6503	16796497	SO:0001583	missense	23495	exon2	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.187G>A	17.37:g.16855772C>T	ENSP00000261652:p.Ala63Thr	Somatic		Capture	Illumina HiSeq	Phase_I	16796497	NM_012452	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.518	-0.098405	0.07010	.	.	ENSG00000240505	ENST00000261652	D	0.96774	-4.12	3.22	2.25	0.28309	TACI, cysteine-rich domain (1);	0.533903	0.16659	N	0.204869	D	0.91229	0.7236	L	0.38838	1.175	0.80722	D	1	P;P	0.47484	0.896;0.606	B;B	0.41202	0.35;0.232	D	0.86316	0.1689	10	0.20046	T	0.44	-0.7149	6.3367	0.21300	0.0:0.8606:0.0:0.1394	.	63;63	B7Z6V8;O14836	.;TR13B_HUMAN	T	63	ENSP00000261652:A63T	ENSP00000261652:A63T	A	-	1	0	TNFRSF13B	16796497	0.002000	0.14202	0.741000	0.31004	0.081000	0.17604	-0.479000	0.06567	0.922000	0.37019	-0.218000	0.12543	GCA		0.597	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2		
TOM1L2	146691	broad.mit.edu	37	17	17788000	17788000	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:17788000T>G	ENST00000379504.3	-	5	532	c.449A>C	c.(448-450)gAa>gCa	p.E150A	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E100A|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E150A|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000318094.10_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	150	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)	p.E100A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CATGGGAAATTCAACCCCTTT	0.527																																					p.E150A	Melanoma(192;2505 2909 14455 25269)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A449C	17						.						187.0	152.0	164.0					17																	17788000		2203	4300	6503	17728725	SO:0001583	missense	146691	exon5			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.449A>C	17.37:g.17788000T>G	ENSP00000368818:p.Glu150Ala	Somatic		Capture	Illumina HiSeq	Phase_I	17728725	NM_001082968	B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134122	0.94517	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000535933;ENST00000537091	T;T	0.55413	0.52;0.52	5.97	5.97	0.96955	ENTH/VHS (2);VHS (1);	0.042919	0.85682	D	0.000000	T	0.74473	0.3721	M	0.81179	2.53	0.80722	D	1	D;B;D;D	0.89917	1.0;0.202;0.999;1.0	D;B;D;D	0.91635	0.997;0.405;0.991;0.999	T	0.76653	-0.2880	10	0.52906	T	0.07	-14.0529	16.4504	0.83984	0.0:0.0:0.0:1.0	.	100;150;150;100	B7Z8F0;B7Z2L7;Q6ZVM7;Q6ZVM7-2	.;.;TM1L2_HUMAN;.	A	150;100;150;100	ENSP00000368818:E150A;ENSP00000438621:E150A	ENSP00000312860:E100A	E	-	2	0	TOM1L2	17728725	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.991000	0.88244	2.288000	0.76882	0.533000	0.62120	GAA		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1		
FLII	2314	broad.mit.edu	37	17	18149086	18149086	+	Missense_Mutation	SNP	C	C	T	rs200966684		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18149086C>T	ENST00000327031.4	-	27	3700	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K	FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.E1104K|FLII_ENST00000579294.1_Missense_Mutation_p.E1148K|FLII_ENST00000379450.4_Missense_Mutation_p.E1073K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1159					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E1159K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCATGTACTCGGCATCGTCA	0.587																																					p.E1159K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3475A	17						.	C	LYS/GLU	0,4406		0,0,2203	190.0	164.0	173.0		3475	5.7	0.9	17		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLII	NM_002018.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1159/1270	18149086	1,13005	2203	4300	6503	18089811	SO:0001583	missense	2314	exon27			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3475G>A	17.37:g.18149086C>T	ENSP00000324573:p.Glu1159Lys	Somatic		Capture	Illumina HiSeq	Phase_I	18089811	NM_002018	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.26	3.344587	0.61073	0.0	1.16E-4	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.37058	1.95;1.22;1.95	5.69	5.69	0.88448	.	0.151487	0.64402	D	0.000019	T	0.39410	0.1077	M	0.68317	2.08	0.80722	D	1	P;P;P;B	0.40230	0.477;0.477;0.708;0.308	B;B;B;B	0.33121	0.085;0.085;0.158;0.048	T	0.41484	-0.9506	10	0.54805	T	0.06	-21.1352	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1073;1073;1159;1128	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	K	1159;1038;1073	ENSP00000324573:E1159K;ENSP00000438536:E1038K;ENSP00000368763:E1073K	ENSP00000324573:E1159K	E	-	1	0	FLII	18089811	1.000000	0.71417	0.946000	0.38457	0.290000	0.27261	7.456000	0.80751	2.690000	0.91761	0.655000	0.94253	GAG		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
SMCR8	140775	broad.mit.edu	37	17	18219497	18219497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18219497G>A	ENST00000406438.3	+	1	874	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	132						nucleus (GO:0005634)		p.A132T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAGGAGGGCGCCTTTGCATA	0.552																																					p.A132T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	17						.						86.0	89.0	88.0					17																	18219497		2203	4300	6503	18160222	SO:0001583	missense	140775	exon1			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.394G>A	17.37:g.18219497G>A	ENSP00000385025:p.Ala132Thr	Somatic		Capture	Illumina HiSeq	Phase_I	18160222	NM_144775	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801778	0.90538	.	.	ENSG00000176994	ENST00000406438	T	0.26660	1.72	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42783	-0.9431	10	0.59425	D	0.04	-45.2696	20.073	0.97731	0.0:0.0:1.0:0.0	.	132	Q8TEV9	SMCR8_HUMAN	T	132	ENSP00000385025:A132T	ENSP00000385025:A132T	A	+	1	0	SMCR8	18160222	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.750000	0.94351	0.655000	0.94253	GCC		0.552	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
TBC1D28	254272	broad.mit.edu	37	17	18541225	18541225	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18541225C>A	ENST00000345096.4	-	8	1148	c.449G>T	c.(448-450)aGc>aTc	p.S150I	TBC1D28_ENST00000405044.1_Missense_Mutation_p.S150I			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	150	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.S150I(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CAGGGTGTGGCTGACATCTAG	0.542																																					p.S150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449T	17						.						74.0	75.0	75.0					17																	18541225		2030	4158	6188	18481950	SO:0001583	missense	254272	exon9				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.449G>T	17.37:g.18541225C>A	ENSP00000339973:p.Ser150Ile	Somatic		Capture	Illumina HiSeq	Phase_I	18481950	NM_001039397	Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	7.949	0.744395	0.15710	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.11930	2.73;2.73	0.185	-0.371	0.12525	Rab-GAP/TBC domain (2);	0.307991	0.33075	U	0.005320	T	0.14570	0.0352	L	0.59436	1.845	0.09310	N	1	P	0.44309	0.832	P	0.45998	0.5	T	0.13953	-1.0490	9	0.87932	D	0	.	.	.	.	.	150	Q2M2D7	TBC28_HUMAN	I	150	ENSP00000339973:S150I;ENSP00000385821:S150I	ENSP00000339973:S150I	S	-	2	0	TBC1D28	18481950	0.998000	0.40836	0.003000	0.11579	0.003000	0.03518	0.661000	0.25023	-0.722000	0.04922	-0.708000	0.03648	AGC		0.542	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397	
TBC1D28	254272	broad.mit.edu	37	17	18541697	18541697	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18541697C>T	ENST00000345096.4	-	7	1015	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	TBC1D28_ENST00000405044.1_Missense_Mutation_p.V106M			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	106	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.V106M(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CGGCCCCGCACCGCCAGGGGA	0.527																																					p.V106M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	17						.						112.0	114.0	114.0					17																	18541697		1931	4133	6064	18482422	SO:0001583	missense	254272	exon8				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.316G>A	17.37:g.18541697C>T	ENSP00000339973:p.Val106Met	Somatic		Capture	Illumina HiSeq	Phase_I	18482422	NM_001039397	Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	9.641	1.139064	0.21205	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.12039	2.72;2.72	0.185	0.185	0.15096	Rab-GAP/TBC domain (2);	0.382752	0.23815	N	0.044293	T	0.28699	0.0711	M	0.70903	2.155	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.03922	-1.0992	9	0.36615	T	0.2	.	.	.	.	.	106	Q2M2D7	TBC28_HUMAN	M	106	ENSP00000339973:V106M;ENSP00000385821:V106M	ENSP00000339973:V106M	V	-	1	0	TBC1D28	18482422	0.031000	0.19500	0.000000	0.03702	0.000000	0.00434	0.215000	0.17562	0.293000	0.22520	0.298000	0.19748	GTG		0.527	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397	
TRIM16L	147166	broad.mit.edu	37	17	18630914	18630914	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18630914C>T	ENST00000449552.2	+	4	1528	c.44C>T	c.(43-45)gCc>gTc	p.A15V	TRIM16L_ENST00000572555.1_Missense_Mutation_p.A15V|TRIM16L_ENST00000395902.3_Missense_Mutation_p.A69V|TRIM16L_ENST00000395671.4_Missense_Mutation_p.A15V|TRIM16L_ENST00000414850.2_Missense_Mutation_p.A15V|TRIM16L_ENST00000395672.2_Missense_Mutation_p.A15V|TRIM16L_ENST00000571708.1_Missense_Mutation_p.A15V			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	15						cytoplasm (GO:0005737)		p.A15V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAGGCCCAGGCCAATGTGATG	0.592																																					p.A15V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	17						.						94.0	81.0	85.0					17																	18630914		2203	4297	6500	18571639	SO:0001583	missense	147166	exon2			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.44C>T	17.37:g.18630914C>T	ENSP00000461386:p.Ala15Val	Somatic		Capture	Illumina HiSeq	Phase_I	18571639	NM_001037330	A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.310622	0.23821	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000414850;ENST00000424146;ENST00000395671	T;T;T	0.69435	-0.4;-0.36;-0.36	3.25	2.15	0.27550	.	0.586713	0.15571	U	0.255452	T	0.58850	0.2151	L	0.51422	1.61	0.20196	N	0.99992	B;B;B;B	0.22414	0.069;0.059;0.017;0.059	B;B;B;B	0.24701	0.055;0.037;0.015;0.022	T	0.57888	-0.7733	10	0.72032	D	0.01	-1.1039	9.3869	0.38349	0.2128:0.7872:0.0:0.0	.	15;69;231;15	B4DWQ8;B4DE22;B3KMJ2;Q309B1	.;.;.;TR16L_HUMAN	V	69;15;15;15;15	ENSP00000379239:A69V;ENSP00000379031:A15V;ENSP00000379030:A15V	ENSP00000379030:A15V	A	+	2	0	TRIM16L	18571639	0.000000	0.05858	0.895000	0.35142	0.440000	0.31957	0.135000	0.15952	1.813000	0.52934	0.194000	0.17425	GCC		0.592	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330	
SMG6	23293	broad.mit.edu	37	17	1968803	1968803	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1968803C>T	ENST00000263073.6	-	17	4056	c.4006G>A	c.(4006-4008)Gaa>Aaa	p.E1336K	SMG6_ENST00000354901.4_Missense_Mutation_p.E428K|SMG6_ENST00000544865.1_Missense_Mutation_p.E1305K|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.E428K	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1336	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.E1336K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGATGGATTCGAGTTCATTG	0.597																																					p.E1305K	Melanoma(59;28 1088 11621 25887 46638 50814)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3913A	17						.						53.0	49.0	51.0					17																	1968803		2203	4300	6503	1915553	SO:0001583	missense	23293	exon17			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4006G>A	17.37:g.1968803C>T	ENSP00000263073:p.Glu1336Lys	Somatic		Capture	Illumina HiSeq	Phase_I	1915553	NM_001170957	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273927	0.80580	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.17528	3.05;3.05;2.27	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.41632	1.29	0.80722	D	1	D	0.65815	0.995	P	0.55055	0.767	T	0.00536	-1.1683	10	0.54805	T	0.06	-8.1637	19.5351	0.95247	0.0:1.0:0.0:0.0	.	1336	Q86US8	EST1A_HUMAN	K	1336;1305;247;428	ENSP00000263073:E1336K;ENSP00000443920:E1305K;ENSP00000440283:E428K	ENSP00000263073:E1336K	E	-	1	0	SMG6	1915553	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	7.453000	0.80700	2.640000	0.89533	0.655000	0.94253	GAA		0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
FBXW10	10517	broad.mit.edu	37	17	18681848	18681848	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18681848G>T	ENST00000395665.4	+	14	2617	c.2396G>T	c.(2395-2397)aGt>aTt	p.S799I	TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.S746I|FBXW10_ENST00000308799.4_Missense_Mutation_p.S808I|FBXW10_ENST00000395667.1_Missense_Mutation_p.S798I|TVP23B_ENST00000307767.8_5'Flank|TVP23B_ENST00000476139.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	799								p.S798I(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAACTGCCCAGTCACCCAAAG	0.428																																					p.S798I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2393T	17						.						28.0	27.0	27.0					17																	18681848		2195	4284	6479	18622573	SO:0001583	missense	10517	exon14			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2396G>T	17.37:g.18681848G>T	ENSP00000379025:p.Ser799Ile	Somatic		Capture	Illumina HiSeq	Phase_I	18622573	NM_031456	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201110	0.06219	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.62364	0.06;0.25;0.03;0.18	3.34	-6.69	0.01772	.	2.532820	0.03481	U	0.215132	T	0.45458	0.1343	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.26258	0.062;0.145;0.037;0.145	B;B;B;B	0.29353	0.044;0.101;0.019;0.063	T	0.33904	-0.9850	10	0.40728	T	0.16	.	3.8562	0.08976	0.1957:0.1272:0.5075:0.1697	.	746;808;799;798	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	I	798;808;746;799	ENSP00000379026:S798I;ENSP00000310382:S808I;ENSP00000306937:S746I;ENSP00000379025:S799I	ENSP00000306937:S746I	S	+	2	0	FBXW10	18622573	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.472000	0.00459	-3.015000	0.00271	-1.465000	0.01017	AGT		0.428	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
SLC47A1	55244	broad.mit.edu	37	17	19452958	19452958	+	Missense_Mutation	SNP	A	A	G	rs541196872	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:19452958A>G	ENST00000270570.4	+	5	552	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	SLC47A1_ENST00000436810.2_Missense_Mutation_p.T133A|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.T156A|SLC47A1_ENST00000575023.1_Missense_Mutation_p.T156A|SLC47A1_ENST00000571335.1_Silent_p.R7R|SLC47A1_ENST00000542886.1_Missense_Mutation_p.T156A|SLC47A1_ENST00000457293.1_Missense_Mutation_p.T156A	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	156					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.T156A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCTTACCCAGACCTATGTCAC	0.438													A|||	4	0.000798722	0.0	0.0	5008	,	,		21212	0.0		0.0	False		,,,				2504	0.0041				p.T156A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A466G	17						.						181.0	163.0	169.0					17																	19452958		2203	4300	6503	19393550	SO:0001583	missense	55244	exon5				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.466A>G	17.37:g.19452958A>G	ENSP00000270570:p.Thr156Ala	Somatic		Capture	Illumina HiSeq	Phase_I	19393550	NM_018242	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	0.676	-0.799976	0.02841	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.43	4.33	0.51752	.	0.602886	0.17972	N	0.155815	T	0.16642	0.0400	N	0.25647	0.755	0.25885	N	0.983543	B;P;B;B	0.34684	0.131;0.463;0.03;0.024	B;B;B;B	0.33568	0.102;0.166;0.063;0.037	T	0.17410	-1.0370	10	0.08837	T	0.75	-22.9367	5.4301	0.16448	0.686:0.148:0.166:0.0	.	133;156;156;156	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	A	133;156;156;156;156	ENSP00000407155:T133A;ENSP00000270570:T156A;ENSP00000415586:T156A;ENSP00000440435:T156A;ENSP00000378951:T156A	ENSP00000270570:T156A	T	+	1	0	SLC47A1	19393550	0.046000	0.20272	0.995000	0.50966	0.304000	0.27724	-0.205000	0.09411	0.884000	0.36064	0.455000	0.32223	ACC		0.438	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	
ALDH3A2	224	broad.mit.edu	37	17	19559682	19559682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:19559682C>A	ENST00000176643.6	+	4	921	c.475C>A	c.(475-477)Ctc>Atc	p.L159I	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.L159I|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.L159I|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.L159I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.L159I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	159					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)	p.L159I(1)		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)					CTTTGAGGATCTCTATATTGT	0.388																																					p.L159I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475A	17						.						108.0	103.0	104.0					17																	19559682		2203	4300	6503	19500274	SO:0001583	missense	224	exon4			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.475C>A	17.37:g.19559682C>A	ENSP00000176643:p.Leu159Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19500274	NM_001031806	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405387	0.62288	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.71	3.73	0.42828	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	L	0.35542	1.07	0.80722	D	1	D;D	0.63046	0.98;0.992	D;D	0.72075	0.966;0.976	T	0.78259	-0.2273	10	0.38643	T	0.18	-13.4969	11.1524	0.48466	0.0:0.8515:0.0:0.1485	.	159;159	P51648;P51648-2	AL3A2_HUMAN;.	I	159	ENSP00000395845:L159I;ENSP00000176643:L159I;ENSP00000378942:L159I;ENSP00000345774:L159I	ENSP00000176643:L159I	L	+	1	0	ALDH3A2	19500274	0.987000	0.35691	0.997000	0.53966	0.651000	0.38670	2.752000	0.47516	1.424000	0.47217	0.467000	0.42956	CTC		0.388	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1		
TSR1	55720	broad.mit.edu	37	17	2235464	2235464	+	Splice_Site	SNP	G	G	A	rs199669648		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:2235464G>A	ENST00000301364.5	-	8	2574	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	499					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R499*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTGACTAACCGAATTCGAGCA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18698	0.001		0.0	False		,,,				2504	0.0				p.R499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1495T	17						.						102.0	102.0	102.0					17																	2235464		2203	4300	6503	2182214	SO:0001630	splice_region_variant	55720	exon8			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1496+1C>T	17.37:g.2235464G>A		Somatic		Capture	Illumina HiSeq	Phase_I	2182214	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Nonsense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	47	13.763816	0.99762	.	.	ENSG00000167721	ENST00000301364	.	.	.	5.27	1.76	0.24704	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4581	9.4852	0.38924	0.0785:0.0:0.5663:0.3553	.	.	.	.	X	499	.	ENSP00000301364:R499X	R	-	1	2	TSR1	2182214	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.883000	0.28200	0.608000	0.30000	0.555000	0.69702	CGA		0.398	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	Nonsense_Mutation
TSR1	55720	broad.mit.edu	37	17	2237952	2237952	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:2237952C>A	ENST00000301364.5	-	5	1874	c.795G>T	c.(793-795)gaG>gaT	p.E265D	SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.E249D|SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	265					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E265D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCAAGTTATTCTCTTCACTAG	0.458																																					p.E265D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G795T	17						.						103.0	100.0	101.0					17																	2237952		2203	4300	6503	2184702	SO:0001583	missense	55720	exon5			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.795G>T	17.37:g.2237952C>A	ENSP00000301364:p.Glu265Asp	Somatic		Capture	Illumina HiSeq	Phase_I	2184702	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405566	0.25378	.	.	ENSG00000167721	ENST00000301364	T	0.46063	0.88	5.4	1.24	0.21308	AARP2CN (2);	0.454838	0.26899	N	0.021936	T	0.27419	0.0673	L	0.39397	1.21	0.38784	D	0.954836	B	0.13594	0.008	B	0.17098	0.017	T	0.09122	-1.0689	10	0.17832	T	0.49	-15.1336	6.0485	0.19773	0.0:0.5398:0.1231:0.3372	.	265	Q2NL82	TSR1_HUMAN	D	265	ENSP00000301364:E265D	ENSP00000301364:E265D	E	-	3	2	TSR1	2184702	0.833000	0.29383	0.923000	0.36655	0.867000	0.49689	0.180000	0.16860	0.026000	0.15269	-0.126000	0.14955	GAG		0.458	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
METTL16	79066	broad.mit.edu	37	17	2341440	2341440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:2341440G>A	ENST00000263092.6	-	8	978	c.851C>T	c.(850-852)gCc>gTc	p.A284V	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.A66V	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	284							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A284V(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCAAGCTAAGGCCCATCTCAT	0.453																																					p.A284V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C851T	17						.						212.0	196.0	201.0					17																	2341440		2024	4202	6226	2288190	SO:0001583	missense	79066	exon8			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.851C>T	17.37:g.2341440G>A	ENSP00000263092:p.Ala284Val	Somatic		Capture	Illumina HiSeq	Phase_I	2288190	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559387	0.65538	.	.	ENSG00000127804	ENST00000263092;ENST00000538844	T;T	0.48522	0.91;0.81	5.84	5.84	0.93424	.	0.095135	0.64402	D	0.000001	T	0.31040	0.0784	N	0.12853	0.265	0.80722	D	1	B	0.18013	0.025	B	0.24974	0.057	T	0.13737	-1.0498	10	0.11485	T	0.65	-13.2766	15.6996	0.77533	0.0:0.0:1.0:0.0	.	284	Q86W50	MET16_HUMAN	V	284;66	ENSP00000263092:A284V;ENSP00000443633:A66V	ENSP00000263092:A284V	A	-	2	0	METTL16	2288190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.246000	0.89828	2.776000	0.95493	0.650000	0.86243	GCC		0.453	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
LGALS9B	284194	broad.mit.edu	37	17	20361595	20361595	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:20361595C>A	ENST00000423676.3	-	3	297	c.234G>T	c.(232-234)caG>caT	p.Q78H	LGALS9B_ENST00000324290.5_Missense_Mutation_p.Q78H			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	78	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)	p.Q78H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						ATCTTCCTTTCTGCCTCGTGT	0.547																																					p.Q78H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G234T	17						.						173.0	132.0	146.0					17																	20361595		2202	4298	6500	20302187	SO:0001583	missense	284194	exon3				CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.234G>T	17.37:g.20361595C>A	ENSP00000388841:p.Gln78His	Somatic		Capture	Illumina HiSeq	Phase_I	20302187	NM_001042685	A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37		.	.	.	.	.	.	.	.	.	.	C	5.987	0.366077	0.11352	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.06142	3.34;3.34	1.92	1.92	0.25849	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.142664	0.48286	D	0.000191	T	0.07728	0.0194	L	0.58302	1.8	0.32677	N	0.516025	B;B	0.24576	0.106;0.043	B;B	0.23419	0.046;0.041	T	0.04178	-1.0971	10	0.51188	T	0.08	.	9.9181	0.41448	0.0:1.0:0.0:0.0	.	78;78	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	H	78	ENSP00000388841:Q78H;ENSP00000315564:Q78H	ENSP00000315564:Q78H	Q	-	3	2	LGALS9B	20302187	0.933000	0.31639	0.529000	0.27951	0.016000	0.09150	1.896000	0.39789	1.388000	0.46506	0.400000	0.26472	CAG		0.547	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685	
NOS2	4843	broad.mit.edu	37	17	26115956	26115956	+	Splice_Site	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26115956T>A	ENST00000313735.6	-	4	430	c.197A>T	c.(196-198)aAg>aTg	p.K66M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	66					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.K66M(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TTCTGGAGACTTCTGCAAGGG	0.542																																					p.K66M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197T	17						.						126.0	130.0	129.0					17																	26115956		2203	4300	6503	23140083	SO:0001630	splice_region_variant	4843	exon4			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.196-1A>T	17.37:g.26115956T>A		Somatic		Capture	Illumina HiSeq	Phase_I	23140083	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842497	0.32606	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01838	4.61	5.68	3.42	0.39159	.	0.543477	0.18560	N	0.137648	T	0.03739	0.0106	L	0.59436	1.845	0.58432	D	0.999999	P;P	0.48998	0.738;0.918	P;P	0.47102	0.537;0.503	T	0.51156	-0.8741	10	0.56958	D	0.05	.	2.6006	0.04866	0.1464:0.0769:0.2927:0.484	.	66;66	F8WEM3;P35228	.;NOS2_HUMAN	M	66	ENSP00000327251:K66M	ENSP00000305638:K66M	K	-	2	0	NOS2	23140083	0.694000	0.27738	0.137000	0.22149	0.219000	0.24729	1.402000	0.34600	0.410000	0.25675	0.528000	0.53228	AAG		0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	Missense_Mutation
TNFAIP1	7126	broad.mit.edu	37	17	26669304	26669304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26669304G>A	ENST00000226225.2	+	6	817	c.550G>A	c.(550-552)Gag>Aag	p.E184K	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E80K|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	184					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)	p.E184K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAAAACATCGAGCTGTTTGA	0.542																																					p.E184K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550A	17						.						105.0	86.0	93.0					17																	26669304		2203	4300	6503	23693431	SO:0001583	missense	7126	exon6				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.550G>A	17.37:g.26669304G>A	ENSP00000226225:p.Glu184Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23693431	NM_021137	B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	36	5.965733	0.97151	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.59364	0.27	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77164	-0.2688	10	0.49607	T	0.09	-33.9575	19.3095	0.94179	0.0:0.0:1.0:0.0	.	184	Q13829	BACD2_HUMAN	K	184;80	ENSP00000226225:E184K	ENSP00000226225:E184K	E	+	1	0	TNFAIP1	23693431	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	GAG		0.542	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137	
TMEM199	147007	broad.mit.edu	37	17	26691571	26691571	+	IGR	SNP	C	C	T	rs199629290		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26691571C>T	ENST00000292114.3	+	0	3148				VTN_ENST00000536498.1_Missense_Mutation_p.D123N|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_Missense_Mutation_p.D123N|CTB-96E2.2_ENST00000555059.2_3'UTR|VTN_ENST00000431468.1_Missense_Mutation_p.D124N|CTB-96E2.7_ENST00000577850.1_RNA|SARM1_ENST00000379061.4_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)		p.D124N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGGAGGGTGTCTGGAAGAGAA	0.587																																					p.D124N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	17						.	C	ASN/ASP	0,3994		0,0,1997	46.0	52.0	50.0		370	3.7	0.1	17		50	4,8308		0,4,4152	yes	missense	SEBOX	NM_001080837.2	23	0,4,6149	TT,TC,CC		0.0481,0.0,0.0325	benign	124/217	26691571	4,12302	1997	4156	6153	23715698	SO:0001628	intergenic_variant	645832	exon3			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691571C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23715698	NM_001080837		Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444959	0.43429	0.0	4.81E-4	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.91631	-2.82;-2.88;-2.88	4.77	3.73	0.42828	.	0.231712	0.30446	N	0.009620	D	0.83110	0.5183	L	0.32530	0.975	0.19945	N	0.999948	P;B	0.35507	0.506;0.417	B;B	0.31442	0.074;0.13	T	0.70612	-0.4824	10	0.16420	T	0.52	.	7.5459	0.27766	0.0:0.7251:0.1735:0.1015	.	124;123	Q9HB31;C9JDG5	SEBOX_HUMAN;.	N	124;123;123;128;149	ENSP00000416240:D124N;ENSP00000444503:D123N;ENSP00000395142:D123N	ENSP00000247029:D128N	D	-	1	0	VTN;CTB-96E2.2	23715698	0.001000	0.12720	0.080000	0.20451	0.538000	0.34931	0.159000	0.16442	2.488000	0.83962	0.561000	0.74099	GAC		0.587	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464	
VTN	7448	broad.mit.edu	37	17	26695911	26695911	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26695911G>A	ENST00000226218.4	-	5	1426	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	270					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R270W(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	AAGTAGACCCGCTCCCGGCCA	0.587																																					p.R270W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808T	17						.						71.0	65.0	67.0					17																	26695911		2203	4300	6503	23720038	SO:0001583	missense	7448	exon5			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.808C>T	17.37:g.26695911G>A	ENSP00000226218:p.Arg270Trp	Somatic		Capture	Illumina HiSeq	Phase_I	23720038	NM_000638	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990572	0.74589	.	.	ENSG00000255604	ENST00000226218	T	0.02837	4.14	5.92	3.84	0.44239	Hemopexin/matrixin (2);	0.056754	0.64402	D	0.000001	T	0.12774	0.0310	M	0.63428	1.95	0.43238	D	0.995144	D	0.89917	1.0	D	0.79108	0.992	T	0.00295	-1.1839	10	0.87932	D	0	-34.4486	15.1548	0.72733	0.0:0.0:0.444:0.5559	.	270	P04004	VTNC_HUMAN	W	270	ENSP00000226218:R270W	ENSP00000226218:R270W	R	-	1	2	AC002094.1	23720038	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.436000	0.34980	0.741000	0.32674	0.655000	0.94253	CGG		0.587	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638	
SLC13A2	9058	broad.mit.edu	37	17	26818799	26818799	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26818799C>T	ENST00000314669.5	+	6	1227	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC13A2_ENST00000545060.1_Silent_p.F226F|SLC13A2_ENST00000444914.3_Silent_p.F318F|SLC13A2_ENST00000537681.1_Silent_p.F198F	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	269					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.F269F(2)|p.F318F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTCAGCTTCGCCTTCCCCA	0.582																																					p.F226F												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C678T	17						.						176.0	153.0	161.0					17																	26818799		2203	4300	6503	23842926	SO:0001819	synonymous_variant	9058	exon5			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.807C>T	17.37:g.26818799C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23842926	NM_001145976	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	CCDS11231.1																																																																																				0.582	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
SPAG5	10615	broad.mit.edu	37	17	26912561	26912561	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26912561C>A	ENST00000321765.5	-	8	2183	c.1851G>T	c.(1849-1851)caG>caT	p.Q617H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	617	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.Q617H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCAGTTGGGTCTGGGCATCCT	0.537																																					p.Q617H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1851T	17						.						107.0	103.0	105.0					17																	26912561		2203	4300	6503	23936688	SO:0001583	missense	10615	exon8			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1851G>T	17.37:g.26912561C>A	ENSP00000323300:p.Gln617His	Somatic		Capture	Illumina HiSeq	Phase_I	23936688	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919536	0.52653	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.09	3.77	0.43336	.	0.098666	0.45606	N	0.000359	T	0.49830	0.1580	L	0.36672	1.1	0.30011	N	0.815172	D	0.89917	1.0	D	0.87578	0.998	T	0.46428	-0.9192	9	0.54805	T	0.06	-5.3893	8.5643	0.33530	0.0:0.7505:0.1589:0.0906	.	617	Q96R06	SPAG5_HUMAN	H	617;114	.	ENSP00000323300:Q617H	Q	-	3	2	SPAG5	23936688	0.306000	0.24490	1.000000	0.80357	0.823000	0.46562	0.409000	0.21082	1.568000	0.49683	0.655000	0.94253	CAG		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
SPAG5	10615	broad.mit.edu	37	17	26920074	26920074	+	Missense_Mutation	SNP	T	T	C	rs200484091		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26920074T>C	ENST00000321765.5	-	3	520	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	63					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.N63S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					Agatgagttgttgctgccttc	0.398													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21347	0.0		0.0	False		,,,				2504	0.0				p.N63S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	17						.						64.0	66.0	65.0					17																	26920074		2203	4300	6503	23944201	SO:0001583	missense	10615	exon3			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.188A>G	17.37:g.26920074T>C	ENSP00000323300:p.Asn63Ser	Somatic		Capture	Illumina HiSeq	Phase_I	23944201	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	4.881	0.163705	0.09287	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	0.589	0.17452	.	0.300321	0.29080	N	0.013205	T	0.20047	0.0482	L	0.28740	0.885	0.23879	N	0.996585	B	0.15141	0.012	B	0.17722	0.019	T	0.16394	-1.0404	9	0.52906	T	0.07	-7.2034	7.4602	0.27291	0.0:0.4198:0.0:0.5802	.	63	Q96R06	SPAG5_HUMAN	S	63	.	ENSP00000323300:N63S	N	-	2	0	SPAG5	23944201	0.996000	0.38824	0.306000	0.25113	0.413000	0.31143	0.476000	0.22180	0.173000	0.19788	-0.290000	0.09829	AAC		0.398	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
KIAA0100	9703	broad.mit.edu	37	17	26940161	26940161	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26940161C>T	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.V138M|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.V138M|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.V138M(1)|p.V177M(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACCTTGGGCACCACCTATAAA	0.453											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V138M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G412A	17						.						160.0	141.0	147.0					17																	26940161		2203	4300	6503	23964288	SO:0001628	intergenic_variant	124923	exon4			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940161C>T		Somatic	790	Capture	Illumina HiSeq	Phase_I	23964288	NM_001174103	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962703	0.34659	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.14	4.16	0.48862	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188489	0.45361	D	0.000365	T	0.12390	0.0301	L	0.41906	1.305	0.34579	D	0.71424	P;B	0.50528	0.936;0.056	P;B	0.50405	0.64;0.06	T	0.05115	-1.0905	10	0.87932	D	0	-10.5743	11.7183	0.51666	0.0:0.9177:0.0:0.0823	.	138;138	E9PMD0;Q96LW2	.;SG494_HUMAN	M	138	ENSP00000431165:V138M;ENSP00000436369:V138M;ENSP00000301037:V138M;ENSP00000437573:V138M;ENSP00000434603:V138M	ENSP00000301037:V138M	V	-	1	0	AC005726.6;RP11-192H23.4	23964288	0.989000	0.36119	1.000000	0.80357	0.919000	0.55068	0.269000	0.18589	2.563000	0.86464	0.561000	0.74099	GTG		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
KIAA0100	9703	broad.mit.edu	37	17	26966364	26966364	+	Missense_Mutation	SNP	T	T	G	rs371088424		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:26966364T>G	ENST00000528896.2	-	11	1272	c.1198A>C	c.(1198-1200)Agt>Cgt	p.S400R	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S257R|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S257R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	400						extracellular region (GO:0005576)		p.S400R(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACAGGTGAACTAGACCCTTGG	0.473																																					p.S400R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1198C	17						.						109.0	115.0	113.0					17																	26966364		2203	4300	6503	23990491	SO:0001583	missense	9703	exon11			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1198A>C	17.37:g.26966364T>G	ENSP00000436773:p.Ser400Arg	Somatic		Capture	Illumina HiSeq	Phase_I	23990491	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059831	0.36373	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T;T	0.23950	1.88;1.91;1.93	5.93	1.33	0.21861	FMP27, N-terminal (1);	0.929483	0.09385	N	0.809344	T	0.13841	0.0335	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.36504	-0.9745	10	0.13470	T	0.59	.	6.5353	0.22350	0.0:0.2535:0.1193:0.6271	.	400;400	F6XS94;Q14667	.;K0100_HUMAN	R	400;400;400;257	ENSP00000467716:S400R;ENSP00000436773:S400R;ENSP00000446443:S257R	ENSP00000005905:S400R	S	-	1	0	KIAA0100	23990491	0.464000	0.25807	0.838000	0.33150	0.957000	0.61999	0.753000	0.26376	0.495000	0.27882	0.460000	0.39030	AGT		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
RAB34	83871	broad.mit.edu	37	17	27042106	27042106	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27042106G>C	ENST00000395245.3	-	8	1174	c.548C>G	c.(547-549)gCc>gGc	p.A183G	RAB34_ENST00000453384.3_Missense_Mutation_p.A241G|RAB34_ENST00000447716.1_Missense_Mutation_p.A240G|RAB34_ENST00000395242.2_Missense_Mutation_p.A184G|RAB34_ENST00000450529.1_Missense_Mutation_p.A175G|RAB34_ENST00000415040.2_Missense_Mutation_p.A161G|RAB34_ENST00000395243.3_Missense_Mutation_p.A175G|RAB34_ENST00000301043.6_Missense_Mutation_p.A183G|RAB34_ENST00000436730.3_Missense_Mutation_p.A183G	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	183					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.A183G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CACCTGGAGGGCGTCTTTCTC	0.602																																					p.A241G	Pancreas(175;216 2049 29940 32498 41589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722G	17						.						79.0	72.0	75.0					17																	27042106		2203	4300	6503	24066233	SO:0001583	missense	83871	exon9			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.548C>G	17.37:g.27042106G>C	ENSP00000378666:p.Ala183Gly	Somatic		Capture	Illumina HiSeq	Phase_I	24066233	NM_001142625	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.06|13.06	2.123040|2.123040	0.37436|0.37436	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676|ENST00000419712	T;T;T;T;T;T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97|.	5.01|5.01	5.01|5.01	0.66863|0.66863	Small GTP-binding protein domain (1);|.	0.049369|.	0.85682|.	D|.	0.000000|.	T|T	0.62085|0.62085	0.2399|0.2399	L|L	0.42632|0.42632	1.34|1.34	.|.	.|.	.|.	D;B;D;B;D;D;B|.	0.76494|.	0.999;0.117;0.999;0.117;0.999;0.999;0.117|.	D;B;D;B;D;D;B|.	0.78314|.	0.991;0.136;0.984;0.064;0.967;0.978;0.064|.	T|T	0.62487|0.62487	-0.6844|-0.6844	9|4	0.48119|.	T|.	0.1|.	-12.632|-12.632	17.0681|17.0681	0.86564|0.86564	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	241;161;175;206;198;184;183|.	E7ES60;E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1|.	.;.;.;.;.;.;RAB34_HUMAN|.	G|A	241;240;183;175;161;198;184;183;206;184;183;183|204	ENSP00000413156:A241G;ENSP00000410403:A240G;ENSP00000301043:A183G;ENSP00000378664:A175G;ENSP00000410279:A161G;ENSP00000378663:A184G;ENSP00000378666:A183G;ENSP00000398706:A183G;ENSP00000226259:A183G|.	ENSP00000301043:A183G|.	A|P	-|-	2|1	0|0	RAB34|RAB34	24066233|24066233	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.668000|0.668000	0.39293|0.39293	9.246000|9.246000	0.95438|0.95438	2.607000|2.607000	0.88179|0.88179	0.462000|0.462000	0.41574|0.41574	GCC|CCC		0.602	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934	
NEK8	284086	broad.mit.edu	37	17	27065717	27065717	+	Silent	SNP	C	C	T	rs149239987		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27065717C>T	ENST00000268766.6	+	9	1285	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	417					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S428S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CATTCGGCAGCGGCAGCAATG	0.577																																					p.S417S	NSCLC(6;19 293 14866 25253 49845)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	17						.	C		1,4405	2.1+/-5.4	0,1,2202	61.0	54.0	56.0		1251	-8.0	0.7	17	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NEK8	NM_178170.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		417/693	27065717	3,13003	2203	4300	6503	24089844	SO:0001819	synonymous_variant	284086	exon9			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1251C>T	17.37:g.27065717C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24089844	NM_178170	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	CCDS32597.1																																																																																				0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
SEZ6	124925	broad.mit.edu	37	17	27308924	27308924	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27308924G>T	ENST00000317338.12	-	2	617	c.189C>A	c.(187-189)acC>acA	p.T63T	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.T63T|SEZ6_ENST00000360295.9_Silent_p.T63T|SEZ6_ENST00000335960.6_Silent_p.T63T			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	63	O-glycosylated at two sites.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.T63T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCAGCTTCAAGGTGGGGGCTG	0.607																																					p.T63T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189A	17						.						48.0	52.0	51.0					17																	27308924		2099	4231	6330	24333050	SO:0001819	synonymous_variant	124925	exon2			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.189C>A	17.37:g.27308924G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24333050	NM_178860	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1																																																																																				0.607	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		
PIPOX	51268	broad.mit.edu	37	17	27382227	27382227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27382227C>A	ENST00000323372.4	+	6	1280	c.954C>A	c.(952-954)agC>agA	p.S318R	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	318					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.S318R(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCATTGAGAGCTGCATGTACA	0.582																																					p.S318R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C954A	17						.						136.0	119.0	125.0					17																	27382227		2203	4300	6503	24406353	SO:0001583	missense	51268	exon6			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.954C>A	17.37:g.27382227C>A	ENSP00000317721:p.Ser318Arg	Somatic		Capture	Illumina HiSeq	Phase_I	24406353	NM_016518	B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	0.485	-0.878106	0.02550	.	.	ENSG00000179761	ENST00000323372	D	0.82619	-1.63	5.87	1.74	0.24563	FAD dependent oxidoreductase (1);	0.567318	0.21825	N	0.068567	T	0.59555	0.2202	N	0.08118	0	0.30175	N	0.800897	B	0.06786	0.001	B	0.06405	0.002	T	0.47328	-0.9126	10	0.10902	T	0.67	-4.801	5.8203	0.18524	0.0:0.5881:0.1282:0.2837	.	318	Q9P0Z9	SOX_HUMAN	R	318	ENSP00000317721:S318R	ENSP00000317721:S318R	S	+	3	2	PIPOX	24406353	0.952000	0.32445	0.190000	0.23270	0.472000	0.32918	1.855000	0.39378	0.122000	0.18314	0.563000	0.77884	AGC		0.582	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
MYO18A	399687	broad.mit.edu	37	17	27438768	27438768	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27438768A>C	ENST00000527372.1	-	16	2892	c.2712T>G	c.(2710-2712)taT>taG	p.Y904*	MYO18A_ENST00000533112.1_Nonsense_Mutation_p.Y904*|MYO18A_ENST00000354329.4_Nonsense_Mutation_p.Y904*|MYO18A_ENST00000531253.1_Nonsense_Mutation_p.Y904*	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	904	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.Y904*(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGGGCCATAATAGGAGAAAA	0.602											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y904X	Esophageal Squamous(182;472 2015 7001 15270 22562)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2712G	17						.						42.0	48.0	46.0					17																	27438768		1892	4102	5994	24462894	SO:0001587	stop_gained	399687	exon16			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2712T>G	17.37:g.27438768A>C	ENSP00000437073:p.Tyr904*	Somatic	794	Capture	Illumina HiSeq	Phase_I	24462894	NM_203318	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Nonsense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	A	39	7.726778	0.98456	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	.	.	.	5.42	0.451	0.16629	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.3851	0.26878	0.1486:0.0:0.6968:0.1546	.	.	.	.	X	904;904;904;904;904;516	.	ENSP00000346291:Y904X	Y	-	3	2	MYO18A	24462894	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	-0.110000	0.12022	-0.301000	0.09380	TAT		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
TAOK1	57551	broad.mit.edu	37	17	27822685	27822685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27822685G>T	ENST00000261716.3	+	11	1458	c.939G>T	c.(937-939)aaG>aaT	p.K313N	TAOK1_ENST00000536202.1_Missense_Mutation_p.K313N	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	313					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.K313N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAAGATGAAGAAACTCCTTT	0.418																																					p.K313N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G939T	17						.						97.0	91.0	93.0					17																	27822685		2203	4300	6503	24846811	SO:0001583	missense	57551	exon11			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.939G>T	17.37:g.27822685G>T	ENSP00000261716:p.Lys313Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24846811	NM_020791	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886602	0.72410	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.84516	-1.86;-1.86	5.21	2.14	0.27477	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.79475	2.455	0.80722	D	1	P;P;D	0.54047	0.857;0.912;0.964	P;P;P	0.55577	0.551;0.779;0.695	D	0.87487	0.2424	10	0.62326	D	0.03	.	10.4508	0.44520	0.2126:0.0:0.7874:0.0	.	313;139;313	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	N	313	ENSP00000261716:K313N;ENSP00000438819:K313N	ENSP00000261716:K313N	K	+	3	2	TAOK1	24846811	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.282000	0.51693	0.298000	0.22638	-0.252000	0.11476	AAG		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
TAOK1	57551	broad.mit.edu	37	17	27861259	27861259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:27861259C>T	ENST00000261716.3	+	19	3004	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.R681*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	829					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R829*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAACATGATCGAGAGCTTCG	0.463																																					p.R829X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2485T	17						.						95.0	81.0	86.0					17																	27861259		2203	4300	6503	24885385	SO:0001587	stop_gained	57551	exon19			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2485C>T	17.37:g.27861259C>T	ENSP00000261716:p.Arg829*	Somatic		Capture	Illumina HiSeq	Phase_I	24885385	NM_020791	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	44	10.854322	0.99478	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	5.5	5.5	0.81552	.	0.144593	0.43579	D	0.000550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7544	0.96284	0.0:1.0:0.0:0.0	.	.	.	.	X	829;681	.	ENSP00000261716:R829X	R	+	1	2	TAOK1	24885385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.913000	0.63341	2.740000	0.93945	0.650000	0.86243	CGA		0.463	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
EFCAB5	374786	broad.mit.edu	37	17	28326992	28326992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28326992G>T	ENST00000394835.3	+	7	1234	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E348*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E348*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E5*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E292*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E348*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	348							calcium ion binding (GO:0005509)	p.E348*(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGAATTTACAGAAGTAAGAGT	0.294																																					p.E292X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G874T	17						.						54.0	50.0	51.0					17																	28326992		1816	4068	5884	25351118	SO:0001587	stop_gained	374786	exon7			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1042G>T	17.37:g.28326992G>T	ENSP00000378312:p.Glu348*	Somatic		Capture	Illumina HiSeq	Phase_I	25351118	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802527	0.31869	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	4.72	1.4	0.22301	.	0.727244	0.11952	N	0.513545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-3.2989	12.9179	0.58216	0.0:0.5:0.5:0.0	.	.	.	.	X	292;91;5;348;348;348;348;292;154	.	ENSP00000322003:E348X	E	+	1	0	EFCAB5	25351118	0.686000	0.27661	0.659000	0.29680	0.979000	0.70002	0.354000	0.20146	0.235000	0.21160	0.558000	0.71614	GAA		0.294	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
EFCAB5	374786	broad.mit.edu	37	17	28380353	28380353	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28380353T>G	ENST00000394835.3	+	10	1573	c.1381T>G	c.(1381-1383)Ttt>Gtt	p.F461V	EFCAB5_ENST00000378738.3_Missense_Mutation_p.F461V|EFCAB5_ENST00000320856.5_Missense_Mutation_p.F461V|EFCAB5_ENST00000541045.1_Missense_Mutation_p.F118V|EFCAB5_ENST00000536908.2_Missense_Mutation_p.F405V|EFCAB5_ENST00000394832.2_Missense_Mutation_p.F461V	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	461							calcium ion binding (GO:0005509)	p.F461V(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTATGAAGGTTTTGACAAAGT	0.338																																					p.F405V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1213G	17						.						154.0	150.0	151.0					17																	28380353		1862	4100	5962	25404479	SO:0001583	missense	374786	exon10			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1381T>G	17.37:g.28380353T>G	ENSP00000378312:p.Phe461Val	Somatic		Capture	Illumina HiSeq	Phase_I	25404479	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	8.346	0.829743	0.16749	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.83	3.51	0.40186	.	0.458584	0.18744	N	0.132371	T	0.49321	0.1550	M	0.67953	2.075	0.24718	N	0.993163	D;D;D;D;P;D	0.60575	0.979;0.988;0.975;0.975;0.949;0.975	P;P;P;P;P;P	0.58721	0.702;0.844;0.672;0.736;0.596;0.591	T	0.36720	-0.9736	10	0.12430	T	0.62	-14.9184	7.0174	0.24895	0.0:0.0786:0.1487:0.7727	.	405;405;461;461;461;461	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	V	405;204;118;461;461;461;461;405;267	ENSP00000440619:F405V;ENSP00000445575:F118V;ENSP00000378312:F461V;ENSP00000322003:F461V;ENSP00000378309:F461V;ENSP00000368012:F461V;ENSP00000417009:F267V	ENSP00000322003:F461V	F	+	1	0	EFCAB5	25404479	0.997000	0.39634	0.997000	0.53966	0.011000	0.07611	1.958000	0.40402	1.027000	0.39758	-0.264000	0.10439	TTT		0.338	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
EFCAB5	374786	broad.mit.edu	37	17	28380824	28380824	+	Nonsense_Mutation	SNP	C	C	T	rs200892732		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28380824C>T	ENST00000394835.3	+	10	2044	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R618*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.R618*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.R275*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.R562*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R618*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	618							calcium ion binding (GO:0005509)	p.R618*(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAACAAGATCGACACAAAGG	0.468																																					p.R562X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1684T	17						.						244.0	230.0	235.0					17																	28380824		2083	4219	6302	25404950	SO:0001587	stop_gained	374786	exon10			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1852C>T	17.37:g.28380824C>T	ENSP00000378312:p.Arg618*	Somatic		Capture	Illumina HiSeq	Phase_I	25404950	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419623	0.42918	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.71	-4.27	0.03744	.	1.356770	0.04747	N	0.423836	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	1.2265	6.7531	0.23497	0.1095:0.4277:0.0:0.4627	.	.	.	.	X	562;361;275;618;618;618;618;562;424	.	ENSP00000322003:R618X	R	+	1	2	EFCAB5	25404950	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.014000	0.00646	-1.030000	0.03312	-0.150000	0.13652	CGA		0.468	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
SLC6A4	6532	broad.mit.edu	37	17	28537560	28537560	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28537560G>T	ENST00000401766.2	-	10	1934	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.F474L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	474					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.F474L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GGGATCCAAAGAAGCAGGTGA	0.597																																					p.F474L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1422A	17						.						112.0	95.0	101.0					17																	28537560		2203	4300	6503	25561686	SO:0001583	missense	6532	exon11			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1422C>A	17.37:g.28537560G>T	ENSP00000385822:p.Phe474Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25561686	NM_001045	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083086	0.76642	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.76316	-1.01;-1.01	6.04	5.06	0.68205	.	0.192132	0.56097	D	0.000023	T	0.79782	0.4505	M	0.79805	2.47	0.48975	D	0.999732	B	0.19935	0.04	B	0.31016	0.123	T	0.78553	-0.2160	10	0.72032	D	0.01	.	11.8035	0.52141	0.1317:0.0:0.8683:0.0	.	474	P31645	SC6A4_HUMAN	L	516;474;474	ENSP00000385822:F474L;ENSP00000261707:F474L	ENSP00000261707:F474L	F	-	3	2	SLC6A4	25561686	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.148000	0.42235	2.873000	0.98535	0.561000	0.74099	TTC		0.597	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
BLMH	642	broad.mit.edu	37	17	28576158	28576158	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28576158G>T	ENST00000261714.6	-	12	1419	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L	BLMH_ENST00000394819.3_Missense_Mutation_p.F328L|SNORD63_ENST00000516303.1_RNA|RP11-354P11.2_ENST00000577420.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	415					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.F415L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CATACTCAGAGAACCACTCAT	0.493																																					p.F415L	Pancreas(127;628 1772 12912 33293 36203)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1245A	17						.						154.0	121.0	132.0					17																	28576158		2203	4300	6503	25600284	SO:0001583	missense	642	exon12			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1245C>A	17.37:g.28576158G>T	ENSP00000261714:p.Phe415Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25600284	NM_000386	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250592	0.95305	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.48522	0.81;0.81	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.97110	0.746;1.0	T	0.72090	-0.4395	10	0.56958	D	0.05	-12.5479	19.122	0.93367	0.0:0.0:1.0:0.0	.	328;415	E7EMN3;Q13867	.;BLMH_HUMAN	L	415;328	ENSP00000261714:F415L;ENSP00000378296:F328L	ENSP00000261714:F415L	F	-	3	2	BLMH	25600284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	2.770000	0.95276	0.655000	0.94253	TTC		0.493	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
BLMH	642	broad.mit.edu	37	17	28601148	28601148	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28601148T>C	ENST00000261714.6	-	7	887	c.713A>G	c.(712-714)aAa>aGa	p.K238R	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Missense_Mutation_p.K151R	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	238					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.K238R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	ATTTTTATCTTTGTCTCGATA	0.443																																					p.K238R	Pancreas(127;628 1772 12912 33293 36203)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A713G	17						.						92.0	88.0	89.0					17																	28601148		2203	4300	6503	25625274	SO:0001583	missense	642	exon7			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.713A>G	17.37:g.28601148T>C	ENSP00000261714:p.Lys238Arg	Somatic		Capture	Illumina HiSeq	Phase_I	25625274	NM_000386	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	T	32	5.121359	0.94385	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.51817	0.69;0.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.87038	2.855	0.58432	D	0.999999	D;D	0.89917	0.993;1.0	D;D	0.80764	0.955;0.994	T	0.77611	-0.2523	10	0.62326	D	0.03	-18.0175	15.5264	0.75910	0.0:0.0:0.0:1.0	.	151;238	E7EMN3;Q13867	.;BLMH_HUMAN	R	238;151	ENSP00000261714:K238R;ENSP00000378296:K151R	ENSP00000261714:K238R	K	-	2	0	BLMH	25625274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.679000	0.84048	2.261000	0.74972	0.533000	0.62120	AAA		0.443	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
CPD	1362	broad.mit.edu	37	17	28769443	28769443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28769443G>T	ENST00000225719.4	+	10	2424	c.2348G>T	c.(2347-2349)aGa>aTa	p.R783I	CPD_ENST00000543464.2_Missense_Mutation_p.R536I	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	783	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.R783I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGAATCGAAGATCACTAATC	0.373																																					p.R536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1607T	17						.						86.0	82.0	83.0					17																	28769443		2203	4300	6503	25793569	SO:0001583	missense	1362	exon10			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2348G>T	17.37:g.28769443G>T	ENSP00000225719:p.Arg783Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25793569	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118558	0.77323	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03124	4.04;4.04	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (2);	0.086430	0.85682	D	0.000000	T	0.09113	0.0225	L	0.58810	1.83	0.58432	D	0.999995	P;D	0.61697	0.804;0.99	B;P	0.51487	0.29;0.671	T	0.00865	-1.1535	10	0.56958	D	0.05	.	11.9867	0.53151	0.0788:0.0:0.9212:0.0	.	536;783	F5GZH6;O75976	.;CBPD_HUMAN	I	783;536	ENSP00000225719:R783I;ENSP00000444443:R536I	ENSP00000225719:R783I	R	+	2	0	CPD	25793569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.828000	0.55753	2.640000	0.89533	0.585000	0.79938	AGA		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
CPD	1362	broad.mit.edu	37	17	28772791	28772791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28772791G>T	ENST00000225719.4	+	12	2702	c.2626G>T	c.(2626-2628)Gat>Tat	p.D876Y	CPD_ENST00000543464.2_Missense_Mutation_p.D629Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	876	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.D876Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATCCTCAACAGATTCAAACAA	0.398																																					p.D629Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1885T	17						.						47.0	44.0	45.0					17																	28772791		2203	4300	6503	25796917	SO:0001583	missense	1362	exon12			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2626G>T	17.37:g.28772791G>T	ENSP00000225719:p.Asp876Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	25796917	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896528	0.33442	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.20332	2.08;3.17	5.28	5.28	0.74379	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.64402	D	0.000002	T	0.31702	0.0805	L	0.29908	0.895	0.58432	D	0.999999	P;D	0.58970	0.859;0.984	B;P	0.57283	0.41;0.817	T	0.02358	-1.1171	10	0.59425	D	0.04	.	18.2647	0.90049	0.0:0.0:1.0:0.0	.	629;876	F5GZH6;O75976	.;CBPD_HUMAN	Y	876;629	ENSP00000225719:D876Y;ENSP00000444443:D629Y	ENSP00000225719:D876Y	D	+	1	0	CPD	25796917	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.301000	0.43628	2.636000	0.89361	0.655000	0.94253	GAT		0.398	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
ATAD5	79915	broad.mit.edu	37	17	29162121	29162121	+	Missense_Mutation	SNP	G	G	A	rs373509661	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:29162121G>A	ENST00000321990.4	+	2	1400	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	341					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R341Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAATACCCCGAATTTTCTTG	0.373													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19405	0.0		0.0	False		,,,				2504	0.001				p.R341Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	17						.	G	GLN/ARG	1,4241		0,1,2120	42.0	45.0	44.0		1022	1.7	0.8	17		44	0,8516		0,0,4258	no	missense	ATAD5	NM_024857.3	43	0,1,6378	AA,AG,GG		0.0,0.0236,0.0078	benign	341/1845	29162121	1,12757	2121	4258	6379	26186247	SO:0001583	missense	79915	exon2				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1022G>A	17.37:g.29162121G>A	ENSP00000313171:p.Arg341Gln	Somatic		Capture	Illumina HiSeq	Phase_I	26186247	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485647	0.26686	2.36E-4	0.0	ENSG00000176208	ENST00000321990	T	0.26223	1.75	5.91	1.67	0.24075	.	0.824267	0.10910	N	0.620679	T	0.11879	0.0289	N	0.08118	0	0.19300	N	0.999979	B;B	0.32425	0.371;0.118	B;B	0.23419	0.046;0.02	T	0.19712	-1.0297	10	0.41790	T	0.15	.	9.3579	0.38177	0.1026:0.7085:0.1267:0.0622	.	341;341	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	Q	341	ENSP00000313171:R341Q	ENSP00000313171:R341Q	R	+	2	0	ATAD5	26186247	0.041000	0.20044	0.798000	0.32154	0.826000	0.46750	2.169000	0.42434	0.111000	0.17947	-0.819000	0.03115	CGA		0.373	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29187592	29187592	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:29187592G>T	ENST00000321990.4	+	10	3476	c.3098G>T	c.(3097-3099)aGa>aTa	p.R1033I	CTD-2349P21.11_ENST00000580873.1_RNA|RNU6-298P_ENST00000390888.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1033					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R1033I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTTAGCAAAAGAAACAACTCT	0.343																																					p.R1033I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3098T	17						.						55.0	58.0	57.0					17																	29187592		2202	4298	6500	26211718	SO:0001583	missense	79915	exon10				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3098G>T	17.37:g.29187592G>T	ENSP00000313171:p.Arg1033Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26211718	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896142	0.02472	.	.	ENSG00000176208	ENST00000321990	T	0.06449	3.3	5.45	0.885	0.19188	.	0.747151	0.13931	N	0.352918	T	0.07188	0.0182	L	0.61036	1.89	0.22787	N	0.998739	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.31251	-0.9950	10	0.37606	T	0.19	.	5.5786	0.17236	0.0704:0.2107:0.5025:0.2164	.	1033;1033	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	1033	ENSP00000313171:R1033I	ENSP00000313171:R1033I	R	+	2	0	ATAD5	26211718	0.867000	0.29959	0.486000	0.27416	0.006000	0.05464	0.523000	0.22925	0.077000	0.16863	-2.716000	0.00133	AGA		0.343	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
NF1	4763	broad.mit.edu	37	17	29676159	29676159	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:29676159C>T	ENST00000358273.4	+	49	7594	c.7211C>T	c.(7210-7212)gCt>gTt	p.A2404V	NF1_ENST00000417592.2_Missense_Mutation_p.A117V|NF1_ENST00000444181.2_Missense_Mutation_p.A197V|NF1_ENST00000356175.3_Missense_Mutation_p.A2383V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2404					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.A2404V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTTCACCTGCTATTGTTGCA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.A2383V		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(8)|large_intestine(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.C7148T	17						.						90.0	82.0	85.0					17																	29676159		2202	4299	6501	26700285	SO:0001583	missense	4763	exon48	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7211C>T	17.37:g.29676159C>T	ENSP00000351015:p.Ala2404Val	Somatic		Capture	Illumina HiSeq	Phase_I	26700285	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091095	0.55968	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.65916	1.44;1.44;1.44;-0.18	5.78	3.59	0.41128	Armadillo-type fold (2);	0.158801	0.56097	D	0.000040	T	0.44030	0.1274	N	0.22421	0.69	0.32025	N	0.600232	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47169	-0.9138	10	0.25751	T	0.34	.	9.7713	0.40591	0.1413:0.7633:0.0:0.0955	.	2383;2404	P21359-2;P21359	.;NF1_HUMAN	V	2404;2383;2049;197;117	ENSP00000351015:A2404V;ENSP00000348498:A2383V;ENSP00000389907:A2049V;ENSP00000396481:A197V	ENSP00000348498:A2383V	A	+	2	0	NF1	26700285	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	2.830000	0.48136	1.438000	0.47492	0.655000	0.94253	GCT		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
LRRC37B	114659	broad.mit.edu	37	17	30349707	30349707	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:30349707C>T	ENST00000341671.7	+	1	1547	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	LRRC37B_ENST00000394713.3_Silent_p.A514A|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Silent_p.A526A|LRRC37B_ENST00000543378.2_Silent_p.A432A|LRRC37B_ENST00000327564.7_Silent_p.A541A	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	514						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A514A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACAGAAGGCCTCCACAAGCA	0.527																																					p.A514A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1542T	17						.						95.0	87.0	90.0					17																	30349707		2202	4299	6501	27373820	SO:0001819	synonymous_variant	114659	exon1			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1542C>T	17.37:g.30349707C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27373820	NM_052888	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	CCDS32609.1																																																																																				0.527	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888	
C17orf75	64149	broad.mit.edu	37	17	30658805	30658805	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:30658805C>T	ENST00000577809.1	-	10	1217	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	C17orf75_ENST00000225805.4_Missense_Mutation_p.E390K|RP11-227G15.2_ENST00000580360.1_lincRNA|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	390								p.E390K(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGAGCTTCTTTCATGAAT	0.318																																					p.E390K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168A	17						.						92.0	89.0	90.0					17																	30658805		1832	4079	5911	27682918	SO:0001583	missense	64149	exon10			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.1168G>A	17.37:g.30658805C>T	ENSP00000464275:p.Glu390Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27682918	NM_022344	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239085	0.58995	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	5.68	0.88126	.	0.048677	0.85682	D	0.000000	T	0.68256	0.2981	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.70296	-0.4911	9	0.72032	D	0.01	-17.1972	17.9794	0.89136	0.0:1.0:0.0:0.0	.	390	Q9HAS0	NJMU_HUMAN	K	390	.	ENSP00000225805:E390K	E	-	1	0	C17orf75	27682918	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	5.166000	0.64965	2.683000	0.91414	0.561000	0.74099	GAA		0.318	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344	
PSMD11	5717	broad.mit.edu	37	17	30791552	30791552	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:30791552C>A	ENST00000261712.3	+	5	667	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	Y_RNA_ENST00000365230.1_RNA|PSMD11_ENST00000457654.2_Missense_Mutation_p.S135Y	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	135					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGACTGGTGTCTTTGTACTTT	0.403																																					p.S135Y	Ovarian(130;1038 1716 9294 11987 19279)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C404A	17						.						144.0	127.0	133.0					17																	30791552		2203	4300	6503	27815665	SO:0001583	missense	5717	exon5			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.404C>A	17.37:g.30791552C>A	ENSP00000261712:p.Ser135Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27815665	NM_002815	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021087	0.75275	.	.	ENSG00000108671	ENST00000261712	T	0.46451	0.87	5.49	5.49	0.81192	.	0.075258	0.64402	D	0.000007	T	0.42921	0.1224	L	0.28556	0.865	0.80722	D	1	B;B	0.33583	0.418;0.116	B;B	0.42771	0.397;0.065	T	0.41484	-0.9506	10	0.87932	D	0	-5.4683	16.9239	0.86170	0.0:1.0:0.0:0.0	.	135;135	B4DTS5;O00231	.;PSD11_HUMAN	Y	135	ENSP00000261712:S135Y	ENSP00000261712:S135Y	S	+	2	0	PSMD11	27815665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.421000	0.80204	2.865000	0.98341	0.655000	0.94253	TCT		0.403	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815	
MYO1D	4642	broad.mit.edu	37	17	31048133	31048133	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:31048133C>T	ENST00000318217.5	-	15	2125	c.1821G>A	c.(1819-1821)cgG>cgA	p.R607R	MYO1D_ENST00000579584.1_Silent_p.R607R|MYO1D_ENST00000394649.4_Silent_p.R519R	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	607	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R607R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTACTTGGTGCCGGCAGCGTT	0.428																																					p.R607R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1821A	17						.						165.0	172.0	170.0					17																	31048133		2203	4300	6503	28072246	SO:0001819	synonymous_variant	4642	exon15			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1821G>A	17.37:g.31048133C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28072246	NM_015194	A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	CCDS32615.1																																																																																				0.428	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
TMEM98	26022	broad.mit.edu	37	17	31263430	31263430	+	Silent	SNP	C	C	T	rs201959602		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:31263430C>T	ENST00000579849.1	+	6	809	c.378C>T	c.(376-378)agC>agT	p.S126S	TMEM98_ENST00000394642.3_Silent_p.S126S|TMEM98_ENST00000578289.1_Silent_p.S126S	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	126						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S126S(1)		kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCAGTGTCAGCGACATCATTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18466	0.001		0.0	False		,,,				2504	0.0				p.S126S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	17						.						115.0	102.0	106.0					17																	31263430		2203	4300	6503	28287543	SO:0001819	synonymous_variant	26022	exon5			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.378C>T	17.37:g.31263430C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28287543	NM_001033504	E1P631|Q9UFK2	Silent	SNP	ENST00000579849.1	37	CCDS11274.1																																																																																				0.577	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544	
SPACA3	124912	broad.mit.edu	37	17	31324761	31324761	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:31324761G>T	ENST00000269053.3	+	5	683	c.613G>T	c.(613-615)Gac>Tac	p.D205Y	SPACA3_ENST00000394638.1_Missense_Mutation_p.D102Y|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.D136Y	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	205					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.D205Y(1)|p.D205N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCAGGGAAAAGACCTCACTGA	0.547																																					p.D205Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G613T	17						.						140.0	126.0	131.0					17																	31324761		2203	4300	6503	28348874	SO:0001583	missense	124912	exon5			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.613G>T	17.37:g.31324761G>T	ENSP00000269053:p.Asp205Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28348874	NM_173847	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270977	0.40194	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.76839	-1.05;-1.05	4.39	4.39	0.52855	Lysozyme-like domain (1);	0.143175	0.45361	D	0.000371	T	0.79650	0.4482	M	0.85462	2.755	0.41043	D	0.985243	P	0.41214	0.742	B	0.39379	0.298	D	0.84066	0.0377	10	0.72032	D	0.01	-7.3967	12.6978	0.57014	0.0:0.0:1.0:0.0	.	205	Q8IXA5	SACA3_HUMAN	Y	205;102;206;113	ENSP00000269053:D205Y;ENSP00000378134:D102Y	ENSP00000269053:D205Y	D	+	1	0	SPACA3	28348874	0.991000	0.36638	1.000000	0.80357	0.655000	0.38815	2.942000	0.49018	1.975000	0.57531	0.459000	0.35465	GAC		0.547	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	
OR1G1	8390	broad.mit.edu	37	17	3030102	3030102	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3030102G>T	ENST00000328890.2	-	1	773	c.744C>A	c.(742-744)gtC>gtA	p.V248V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	248					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248V(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGAAGAGAGAGACCACGGAGA	0.488																																					p.V248V	Colon(127;1481 1654 8243 19426 50557)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744A	17						.						91.0	80.0	84.0					17																	3030102		2203	4300	6503	2976852	SO:0001819	synonymous_variant	8390	exon1			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.744C>A	17.37:g.3030102G>T		Somatic		Capture	Illumina HiSeq	Phase_I	2976852	NM_003555	Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	CCDS11020.1																																																																																				0.488	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
ASIC2	40	broad.mit.edu	37	17	31344643	31344643	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:31344643G>A	ENST00000359872.6	-	8	2109	c.1348C>T	c.(1348-1350)Ctc>Ttc	p.L450F	ASIC2_ENST00000225823.2_Missense_Mutation_p.L501F	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	450					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.L501F(1)|p.L450F(1)								Amiloride(DB00594)	TAATCAAAGAGCTCTAGTATT	0.443																																					p.L501F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1501T	17						.						91.0	85.0	87.0					17																	31344643		2203	4300	6503	28368756	SO:0001583	missense	40	exon8			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1348C>T	17.37:g.31344643G>A	ENSP00000352934:p.Leu450Phe	Somatic		Capture	Illumina HiSeq	Phase_I	28368756	NM_183377	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	g	17.93	3.508495	0.64410	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.66280	-0.2;-0.2	4.45	4.45	0.53987	.	0.078257	0.53938	D	0.000048	T	0.63908	0.2551	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.968;0.994	P;D	0.64595	0.796;0.927	T	0.60419	-0.7267	10	0.23302	T	0.38	-2.4671	14.9461	0.71032	0.0:0.0:1.0:0.0	.	450;501	Q16515;E9PBX2	ACCN1_HUMAN;.	F	501;450	ENSP00000225823:L501F;ENSP00000352934:L450F	ENSP00000225823:L501F	L	-	1	0	ACCN1	28368756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.866000	0.48420	2.170000	0.68504	0.561000	0.74099	CTC		0.443	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
TMEM132E	124842	broad.mit.edu	37	17	32959843	32959843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:32959843C>T	ENST00000321639.5	+	7	1661	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	445						integral component of membrane (GO:0016021)		p.P445S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGTCTGGGTCCCCAAGCTGCC	0.597																																					p.P445S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	17						.						183.0	163.0	170.0					17																	32959843		2203	4300	6503	29983956	SO:0001583	missense	124842	exon7			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1333C>T	17.37:g.32959843C>T	ENSP00000316532:p.Pro445Ser	Somatic		Capture	Illumina HiSeq	Phase_I	29983956	NM_207313	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816107	0.90790	.	.	ENSG00000181291	ENST00000321639	T	0.28895	1.59	4.71	4.71	0.59529	.	0.113166	0.64402	D	0.000007	T	0.61825	0.2378	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70008	-0.4990	10	0.87932	D	0	-30.1987	16.8574	0.86009	0.0:1.0:0.0:0.0	.	445	Q6IEE7	T132E_HUMAN	S	445	ENSP00000316532:P445S	ENSP00000316532:P445S	P	+	1	0	TMEM132E	29983956	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.651000	0.83577	2.446000	0.82766	0.551000	0.68910	CCC		0.597	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
RAD51D	5892	broad.mit.edu	37	17	33445555	33445555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33445555C>A	ENST00000345365.6	-	3	483	c.228G>T	c.(226-228)aaG>aaT	p.K76N	RAD51D_ENST00000590016.1_Intron|RAD51D_ENST00000394589.4_Missense_Mutation_p.K76N|RAD51D_ENST00000360276.3_Missense_Mutation_p.K76N|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000460118.2_5'UTR|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000357906.3_Missense_Mutation_p.K76N|RAD51L3-RFFL_ENST00000593039.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	76	Preferencially binds ssDNA.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.K76N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGAGGTCTTCAGTTCCT	0.607								Direct reversal of damage																													p.K76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G228T	17						.						90.0	92.0	91.0					17																	33445555		2203	4300	6503	30469668	SO:0001583	missense	5892	exon3			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.228G>T	17.37:g.33445555C>A	ENSP00000338790:p.Lys76Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30469668	NM_002878	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016729	0.75161	.	.	ENSG00000185379	ENST00000345365;ENST00000335858;ENST00000360276;ENST00000418935;ENST00000415064;ENST00000357906	T;T;T	0.50001	1.01;1.55;0.76	4.79	3.82	0.43975	DNA recombination and repair protein Rad51, C-terminal (1);	0.243451	0.41938	D	0.000791	T	0.50735	0.1633	L	0.61387	1.9	0.51482	D	0.999927	P	0.40619	0.724	P	0.46299	0.511	T	0.51810	-0.8658	10	0.49607	T	0.09	.	10.2265	0.43229	0.0:0.9073:0.0:0.0927	.	76	O75771	RA51D_HUMAN	N	76;76;76;76;79;76	ENSP00000338790:K76N;ENSP00000353417:K76N;ENSP00000350581:K76N	ENSP00000338408:K76N	K	-	3	2	RAD51D	30469668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.919000	0.48836	1.249000	0.43950	0.555000	0.69702	AAG		0.607	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878	
OR1A2	26189	broad.mit.edu	37	17	3101712	3101712	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3101712G>T	ENST00000381951.1	+	1	900	c.900G>T	c.(898-900)caG>caT	p.Q300H		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	300					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q300H(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAGCCCTACAGAAACTCTTCA	0.443																																					p.Q300H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G900T	17						.						83.0	83.0	83.0					17																	3101712		2203	4300	6503	3048462	SO:0001583	missense	26189	exon1			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.900G>T	17.37:g.3101712G>T	ENSP00000371377:p.Gln300His	Somatic		Capture	Illumina HiSeq	Phase_I	3048462	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.006041	0.07773	.	.	ENSG00000172150	ENST00000381951	T	0.37584	1.19	4.0	-0.334	0.12666	.	1.424970	0.04301	N	0.347379	T	0.29093	0.0723	N	0.25201	0.72	0.09310	N	1	B	0.27450	0.179	B	0.33750	0.169	T	0.40040	-0.9584	10	0.49607	T	0.09	.	7.987	0.30218	0.3607:0.0:0.6393:0.0	.	300	Q9Y585	OR1A2_HUMAN	H	300	ENSP00000371377:Q300H	ENSP00000371377:Q300H	Q	+	3	2	OR1A2	3048462	0.080000	0.21391	0.268000	0.24571	0.087000	0.18053	0.780000	0.26760	-0.101000	0.12219	0.543000	0.68304	CAG		0.443	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
FNDC8	54752	broad.mit.edu	37	17	33448895	33448895	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33448895C>A	ENST00000158009.5	+	1	298	c.183C>A	c.(181-183)ttC>ttA	p.F61L	RAD51D_ENST00000590016.1_5'Flank|RAD51D_ENST00000394589.4_5'Flank|RAD51D_ENST00000360276.3_5'Flank|RAD51D_ENST00000335858.7_5'Flank|RAD51D_ENST00000460118.2_5'Flank|RAD51D_ENST00000345365.6_5'Flank|RAD51D_ENST00000590380.1_5'Flank|RAD51D_ENST00000357906.3_5'Flank|RAD51L3-RFFL_ENST00000593039.1_5'Flank	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	61						nucleus (GO:0005634)		p.F61L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TGGTCAACTTCTTGGAGGATG	0.517																																					p.F61L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C183A	17						.						116.0	108.0	111.0					17																	33448895		2203	4300	6503	30473008	SO:0001583	missense	54752	exon1			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.183C>A	17.37:g.33448895C>A	ENSP00000158009:p.Phe61Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30473008	NM_017559	B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	C	8.185	0.794701	0.16327	.	.	ENSG00000073598	ENST00000158009	T	0.27402	1.67	4.68	2.55	0.30701	.	0.402672	0.21676	N	0.070800	T	0.19846	0.0477	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18713	-1.0328	10	0.66056	D	0.02	-7.225	7.6728	0.28468	0.1862:0.6339:0.1799:0.0	.	61	Q8TC99	FNDC8_HUMAN	L	61	ENSP00000158009:F61L	ENSP00000158009:F61L	F	+	3	2	FNDC8	30473008	0.076000	0.21285	0.031000	0.17742	0.142000	0.21351	0.662000	0.25038	0.606000	0.29965	0.555000	0.69702	TTC		0.517	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559	
UNC45B	146862	broad.mit.edu	37	17	33477072	33477072	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33477072G>A	ENST00000268876.5	+	4	308	c.211G>A	c.(211-213)Gac>Aac	p.D71N	UNC45B_ENST00000433649.1_Missense_Mutation_p.D71N|UNC45B_ENST00000394570.2_Missense_Mutation_p.D71N|UNC45B_ENST00000378449.1_Missense_Mutation_p.D71N|UNC45B_ENST00000591048.1_Missense_Mutation_p.D71N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	71					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D71N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATAGCCATCGACATCAACTC	0.602																																					p.D71N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	17						.						90.0	71.0	77.0					17																	33477072		2203	4300	6503	30501185	SO:0001583	missense	146862	exon4			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.211G>A	17.37:g.33477072G>A	ENSP00000268876:p.Asp71Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30501185	NM_001033576	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647400	0.87958	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.55	4.55	0.56014	Armadillo-like helical (1);Tetratricopeptide repeat-containing (1);	0.235216	0.48767	D	0.000169	T	0.69548	0.3123	L	0.49126	1.545	0.80722	D	1	D;D;D	0.76494	0.998;0.995;0.999	D;P;D	0.65140	0.928;0.828;0.932	T	0.72606	-0.4242	10	0.66056	D	0.02	-30.1736	16.8219	0.85748	0.0:0.0:1.0:0.0	.	71;71;71	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	71	ENSP00000378071:D71N;ENSP00000268876:D71N;ENSP00000412840:D71N;ENSP00000367710:D71N	ENSP00000268876:D71N	D	+	1	0	UNC45B	30501185	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	7.624000	0.83124	2.523000	0.85059	0.650000	0.86243	GAC		0.602	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
UNC45B	146862	broad.mit.edu	37	17	33479991	33479991	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33479991A>C	ENST00000268876.5	+	5	558	c.461A>C	c.(460-462)aAg>aCg	p.K154T	UNC45B_ENST00000433649.1_Missense_Mutation_p.K154T|UNC45B_ENST00000394570.2_Missense_Mutation_p.K154T|UNC45B_ENST00000378449.1_Missense_Mutation_p.K154T|UNC45B_ENST00000591048.1_Missense_Mutation_p.K154T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	154					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K154T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GAGGCTGATAAGCGGGAAAAG	0.577																																					p.K154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461C	17						.						99.0	97.0	97.0					17																	33479991		2203	4300	6503	30504104	SO:0001583	missense	146862	exon5			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.461A>C	17.37:g.33479991A>C	ENSP00000268876:p.Lys154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	30504104	NM_001033576	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566978	0.45694	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	0.83;3.62;0.83;0.84	5.3	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.094023	0.64402	D	0.000001	T	0.63581	0.2523	M	0.68593	2.085	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.985;0.991	D;P;P	0.72338	0.977;0.853;0.804	T	0.65372	-0.6184	10	0.72032	D	0.01	-7.3918	10.3849	0.44134	0.9238:0.0:0.0762:0.0	.	154;154;154	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	T	154	ENSP00000378071:K154T;ENSP00000268876:K154T;ENSP00000412840:K154T;ENSP00000367710:K154T	ENSP00000268876:K154T	K	+	2	0	UNC45B	30504104	1.000000	0.71417	0.036000	0.18154	0.127000	0.20565	4.262000	0.58847	1.040000	0.40099	0.528000	0.53228	AAG		0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
UNC45B	146862	broad.mit.edu	37	17	33495262	33495262	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33495262T>A	ENST00000268876.5	+	10	1431	c.1334T>A	c.(1333-1335)cTc>cAc	p.L445H	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.L445H|UNC45B_ENST00000394570.2_Missense_Mutation_p.L445H|UNC45B_ENST00000378449.1_Missense_Mutation_p.L445H|UNC45B_ENST00000591048.1_Missense_Mutation_p.L445H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	445					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L445H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGGAGGCCCTCATCCATGCC	0.562																																					p.L445H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1334A	17						.						109.0	82.0	91.0					17																	33495262		2203	4300	6503	30519375	SO:0001583	missense	146862	exon10			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1334T>A	17.37:g.33495262T>A	ENSP00000268876:p.Leu445His	Somatic		Capture	Illumina HiSeq	Phase_I	30519375	NM_001033576	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602947	0.87157	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.71698	0.2;-0.09;0.2;-0.59	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.68593	2.085	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.995	D	0.84336	0.0524	10	0.87932	D	0	-16.886	14.3661	0.66807	0.0:0.0:0.0:1.0	.	445;445;445	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	445	ENSP00000378071:L445H;ENSP00000268876:L445H;ENSP00000412840:L445H;ENSP00000367710:L445H	ENSP00000268876:L445H	L	+	2	0	UNC45B	30519375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.233000	0.73108	0.533000	0.62120	CTC		0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
UNC45B	146862	broad.mit.edu	37	17	33501307	33501307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33501307C>T	ENST00000268876.5	+	14	1980	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	UNC45B_ENST00000433649.1_Missense_Mutation_p.A626V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A626V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A547V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A547V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	628					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A628V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTTCTGAAGGCGGGTGTCATC	0.577																																					p.A626V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1877T	17						.						124.0	119.0	121.0					17																	33501307		2203	4300	6503	30525420	SO:0001583	missense	146862	exon14			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1883C>T	17.37:g.33501307C>T	ENSP00000268876:p.Ala628Val	Somatic		Capture	Illumina HiSeq	Phase_I	30525420	NM_001033576	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116937	0.77323	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.69435	-0.4;-0.4;-0.4	4.73	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.107611	0.64402	D	0.000007	D	0.82788	0.5113	M	0.82517	2.595	0.41171	D	0.986169	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.95;0.91	D	0.84731	0.0745	10	0.52906	T	0.07	-14.7992	17.2199	0.86954	0.0:1.0:0.0:0.0	.	547;626;628	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	628;628;626;547	ENSP00000268876:A628V;ENSP00000412840:A626V;ENSP00000367710:A547V	ENSP00000268876:A628V	A	+	2	0	UNC45B	30525420	1.000000	0.71417	0.011000	0.14972	0.986000	0.74619	7.534000	0.82004	2.606000	0.88127	0.591000	0.81541	GCG		0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
SLFN5	162394	broad.mit.edu	37	17	33592263	33592263	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33592263G>T	ENST00000299977.4	+	5	2180	c.2032G>T	c.(2032-2034)Gtt>Ttt	p.V678F	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	678					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.V678F(1)|p.P407T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGGCCCAGGAGTTCTCTGGAT	0.488																																					p.V678F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2032T	17						.						152.0	145.0	148.0					17																	33592263		2203	4300	6503	30616376	SO:0001583	missense	162394	exon5			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2032G>T	17.37:g.33592263G>T	ENSP00000299977:p.Val678Phe	Somatic		Capture	Illumina HiSeq	Phase_I	30616376	NM_144975	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	11.91	1.781109	0.31502	.	.	ENSG00000166750	ENST00000299977	T	0.37752	1.18	3.14	-2.57	0.06248	Domain of unknown function DUF2075 (1);	1.158390	0.06794	N	0.787447	T	0.24812	0.0602	L	0.27053	0.805	0.80722	D	1	B	0.33044	0.395	B	0.34824	0.19	T	0.08269	-1.0730	10	0.42905	T	0.14	.	7.5764	0.27939	0.4494:0.0:0.5506:0.0	.	678	Q08AF3	SLFN5_HUMAN	F	678	ENSP00000299977:V678F	ENSP00000299977:V678F	V	+	1	0	SLFN5	30616376	0.862000	0.29867	0.991000	0.47740	0.866000	0.49608	0.281000	0.18810	-0.634000	0.05538	-0.455000	0.05494	GTT		0.488	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
AP2B1	163	broad.mit.edu	37	17	33953792	33953792	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33953792C>A	ENST00000262325.7	+	7	1422	c.869C>A	c.(868-870)aCt>aAt	p.T290N	AP2B1_ENST00000592545.1_Missense_Mutation_p.T252N|AP2B1_ENST00000538556.1_Missense_Mutation_p.T233N|AP2B1_ENST00000589344.1_Missense_Mutation_p.T290N|AP2B1_ENST00000537622.2_Missense_Mutation_p.T290N|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.T290N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	290					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.T290N(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCACTTGTCACTTTGCTGTCT	0.428																																					p.T290N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869A	17						.						182.0	189.0	187.0					17																	33953792		2203	4300	6503	30977905	SO:0001583	missense	163	exon7			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.869C>A	17.37:g.33953792C>A	ENSP00000262325:p.Thr290Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30977905	NM_001282	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623356	0.87460	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.996;0.969;0.995;0.982	T	0.63332	-0.6661	10	0.87932	D	0	0.0066	18.6561	0.91455	0.0:1.0:0.0:0.0	.	27;252;290;290	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	N	290;290;233;290;27	ENSP00000262325:T290N;ENSP00000314414:T290N;ENSP00000440563:T233N;ENSP00000437413:T290N	ENSP00000262325:T290N	T	+	2	0	AP2B1	30977905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.650000	0.89964	0.563000	0.77884	ACT		0.428	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
GAS2L2	246176	broad.mit.edu	37	17	34073169	34073169	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:34073169C>A	ENST00000254466.6	-	6	1374	c.1347G>T	c.(1345-1347)ggG>ggT	p.G449G	GAS2L2_ENST00000587565.1_Silent_p.G433G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	449					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.G449G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCTGATATCCCTTTGGTGG	0.607																																					p.G449G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1347T	17						.						155.0	167.0	163.0					17																	34073169		2203	4300	6503	31097282	SO:0001819	synonymous_variant	246176	exon6			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1347G>T	17.37:g.34073169C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31097282	NM_139285	Q8NHY4	Silent	SNP	ENST00000254466.6	37	CCDS11298.1																																																																																				0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
HEATR9	256957	broad.mit.edu	37	17	34182713	34182713	+	Silent	SNP	G	G	T	rs148907774	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:34182713G>T	ENST00000311880.2	-	14	1468	c.1320C>A	c.(1318-1320)ctC>ctA	p.L440L	C17orf66_ENST00000592980.1_Silent_p.L400L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		440					hematopoietic progenitor cell differentiation (GO:0002244)			p.L440L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTAAGTCCAGGAGCAAGTGGA	0.532																																					p.L440L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1320A	17						.						119.0	110.0	113.0					17																	34182713		2203	4300	6503	31206826	SO:0001819	synonymous_variant	256957	exon14																														ENST00000311880.2:c.1320C>A	17.37:g.34182713G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31206826	NM_152781	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.532	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		
MYO19	80179	broad.mit.edu	37	17	34881093	34881093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:34881093G>A	ENST00000431794.3	-	6	902	c.380C>T	c.(379-381)tCt>tTt	p.S127F	MYO19_ENST00000586007.1_Missense_Mutation_p.S127F|MYO19_ENST00000268852.9_Missense_Mutation_p.S127F|MYO19_ENST00000544606.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	127	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S127F(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GACAACAATAGACTGGTTGAC	0.512																																					p.S127F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C380T	17						.						219.0	209.0	212.0					17																	34881093		1980	4153	6133	31955206	SO:0001583	missense	80179	exon7			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.380C>T	17.37:g.34881093G>A	ENSP00000409936:p.Ser127Phe	Somatic		Capture	Illumina HiSeq	Phase_I	31955206	NM_001033580	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892972	0.91889	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89343	-2.5;-2.5	5.52	5.52	0.82312	Myosin head, motor domain (3);	0.000000	0.41823	D	0.000812	D	0.95111	0.8416	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.993;0.999	D	0.95538	0.8609	10	0.87932	D	0	.	17.9958	0.89184	0.0:0.0:1.0:0.0	.	127;127;127	Q96H55;Q96H55-2;Q96H55-4	MYO19_HUMAN;.;.	F	127	ENSP00000409936:S127F;ENSP00000268852:S127F	ENSP00000268852:S127F	S	-	2	0	MYO19	31955206	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	8.734000	0.91543	2.599000	0.87857	0.561000	0.74099	TCT		0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
AATF	26574	broad.mit.edu	37	17	35378312	35378312	+	Splice_Site	SNP	C	C	T	rs199725061		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35378312C>T	ENST00000225402.5	+	10	1797	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	516					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R516W(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CAGGAAACTTCGGTGAGTTAC	0.368																																					p.R516W	NSCLC(49;901 1159 19183 41572 46244)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1546T	17						.	C	TRP/ARG	0,4406		0,0,2203	65.0	63.0	63.0		1546	5.0	1.0	17		63	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	AATF	NM_012138.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	516/561	35378312	1,13005	2203	4300	6503	32452425	SO:0001630	splice_region_variant	26574	exon10			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1547+1C>T	17.37:g.35378312C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32452425	NM_012138	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707943	0.68615	0.0	1.16E-4	ENSG00000108270	ENST00000225402	.	.	.	5.99	4.99	0.66335	.	0.098546	0.64402	D	0.000003	D	0.85504	0.5712	M	0.92738	3.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89083	0.3477	9	0.87932	D	0	-15.1598	14.5767	0.68252	0.3962:0.6037:0.0:0.0	.	516	Q9NY61	AATF_HUMAN	W	516	.	ENSP00000225402:R516W	R	+	1	2	AATF	32452425	0.968000	0.33430	1.000000	0.80357	0.995000	0.86356	0.014000	0.13333	1.458000	0.47871	0.655000	0.94253	CGG		0.368	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138	Missense_Mutation
ACACA	31	broad.mit.edu	37	17	35549066	35549066	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35549066G>A	ENST00000394406.2	-	37	4460	c.4270C>T	c.(4270-4272)Cgt>Tgt	p.R1424C	ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C|ACACA_ENST00000353139.5_Missense_Mutation_p.R1461C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1424					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1461C(1)|p.R1366C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGATTGCACGAACAAAGAAC	0.478																																					p.R1424C	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4270T	17						.						143.0	112.0	122.0					17																	35549066		2203	4300	6503	32623179	SO:0001583	missense	31	exon41			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4270C>T	17.37:g.35549066G>A	ENSP00000377928:p.Arg1424Cys	Somatic		Capture	Illumina HiSeq	Phase_I	32623179	NM_198839	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504773	0.85176	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.68	4.67	0.58626	Acetyl-CoA carboxylase, central domain (1);	0.056310	0.64402	D	0.000001	D	0.88584	0.6476	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.87578	0.998;0.981;0.882;0.995	D	0.90801	0.4694	10	0.87932	D	0	-9.768	15.2496	0.73532	0.0:0.0:0.8325:0.1675	.	172;1461;1424;1366	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	C	1461;1366;1424;1448;1346;172	ENSP00000344789:R1461C;ENSP00000353898:R1366C;ENSP00000377928:R1424C;ENSP00000335323:R1346C	ENSP00000335323:R1346C	R	-	1	0	ACACA	32623179	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.320000	0.59203	2.669000	0.90835	0.650000	0.86243	CGT		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ACACA	31	broad.mit.edu	37	17	35591991	35591991	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35591991C>T	ENST00000394406.2	-	25	3224	c.3034G>A	c.(3034-3036)Gcc>Acc	p.A1012T	ACACA_ENST00000335166.5_Missense_Mutation_p.A934T|ACACA_ENST00000353139.5_Missense_Mutation_p.A1049T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1012					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A954T(1)|p.A1049T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTCGGAGGGCGAATACACAT	0.393																																					p.A1012T	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3034A	17						.						188.0	155.0	166.0					17																	35591991		2203	4300	6503	32666104	SO:0001583	missense	31	exon29			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3034G>A	17.37:g.35591991C>T	ENSP00000377928:p.Ala1012Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32666104	NM_198839	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722596	0.48728	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.66	4.7	0.59300	Acetyl-CoA carboxylase, central domain (1);	0.052148	0.85682	D	0.000000	T	0.40297	0.1111	M	0.72118	2.19	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.003	T	0.25641	-1.0126	10	0.14656	T	0.56	-1.1597	11.7977	0.52110	0.0:0.8544:0.0:0.1456	.	1049;1012;954	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1049;954;1012;1036;934	ENSP00000344789:A1049T;ENSP00000353898:A954T;ENSP00000377928:A1012T;ENSP00000335323:A934T	ENSP00000335323:A934T	A	-	1	0	ACACA	32666104	0.613000	0.27009	0.783000	0.31826	0.978000	0.69477	1.273000	0.33121	1.421000	0.47157	0.655000	0.94253	GCC		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
OR3A3	8392	broad.mit.edu	37	17	3324724	3324724	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3324724C>A	ENST00000291231.1	+	1	863	c.863C>A	c.(862-864)aCt>aAt	p.T288N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	288					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T288N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTTTTCATGACTGTGATCAAC	0.507																																					p.T288N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C863A	17						.						121.0	117.0	118.0					17																	3324724		2203	4300	6503	3271474	SO:0001583	missense	8392	exon1			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.863C>A	17.37:g.3324724C>A	ENSP00000291231:p.Thr288Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3271474	NM_012373	Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.131747	0.37630	.	.	ENSG00000159961	ENST00000291231	T	0.00267	8.38	2.56	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.80028	2.48	0.09310	N	1	D	0.63046	0.992	D	0.68192	0.956	T	0.48210	-0.9055	9	0.87932	D	0	.	5.1516	0.15013	0.0:0.6307:0.2404:0.1289	.	288	P47888	OR3A3_HUMAN	N	288	ENSP00000291231:T288N	ENSP00000291231:T288N	T	+	2	0	OR3A3	3271474	0.008000	0.16893	0.005000	0.12908	0.890000	0.51754	1.381000	0.34362	0.587000	0.29643	0.655000	0.94253	ACT		0.507	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1		
OR1E2	8388	broad.mit.edu	37	17	3337109	3337109	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3337109G>T	ENST00000248384.1	-	1	26	c.27C>A	c.(25-27)atC>atA	p.I9I		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	9					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.I9I(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GGAAGTCTGAGATGCTGGTTT	0.458																																					p.I9I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27A	17						.						48.0	52.0	50.0					17																	3337109		2202	4297	6499	3283859	SO:0001819	synonymous_variant	8388	exon1			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.27C>A	17.37:g.3337109G>T		Somatic		Capture	Illumina HiSeq	Phase_I	3283859	NM_003554	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Silent	SNP	ENST00000248384.1	37	CCDS11026.1																																																																																				0.458	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
ACACA	31	broad.mit.edu	37	17	35620651	35620651	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35620651C>A	ENST00000394406.2	-	11	1345	c.1155G>T	c.(1153-1155)caG>caT	p.Q385H	ACACA_ENST00000335166.5_Missense_Mutation_p.Q307H|ACACA_ENST00000353139.5_Missense_Mutation_p.Q422H|ACACA_ENST00000360679.3_Missense_Mutation_p.Q327H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	385	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.Q422H(1)|p.Q327H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATAATCTTCTGATGCCTGC	0.408																																					p.Q385H	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1155T	17						.						254.0	237.0	243.0					17																	35620651		2203	4300	6503	32694764	SO:0001583	missense	31	exon15			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1155G>T	17.37:g.35620651C>A	ENSP00000377928:p.Gln385His	Somatic		Capture	Illumina HiSeq	Phase_I	32694764	NM_198839	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628607	0.87560	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.78	4.81	0.61882	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97988	1.0353	10	0.87932	D	0	-13.8981	14.594	0.68392	0.0:0.9302:0.0:0.0698	.	422;385;327	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	422;327;385;409;307	ENSP00000344789:Q422H;ENSP00000353898:Q327H;ENSP00000377928:Q385H;ENSP00000335323:Q307H	ENSP00000335323:Q307H	Q	-	3	2	ACACA	32694764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.787000	0.62432	1.439000	0.47511	0.655000	0.94253	CAG		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
SPATA22	84690	broad.mit.edu	37	17	3352324	3352324	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3352324G>A	ENST00000573128.1	-	6	932	c.449C>T	c.(448-450)tCg>tTg	p.S150L	SPATA22_ENST00000575375.1_Missense_Mutation_p.S150L|SPATA22_ENST00000397168.3_Missense_Mutation_p.S150L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S150L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S107L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S150L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S134L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	150					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.S150L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTGAGCTCCCGAACTCACTGG	0.348																																					p.S107L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C320T	17						.						224.0	216.0	219.0					17																	3352324		2203	4300	6503	3299074	SO:0001583	missense	84690	exon5			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.449C>T	17.37:g.3352324G>A	ENSP00000459580:p.Ser150Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3299074	NM_001170696	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.275562	0.00257	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.17528	2.27;2.28;2.36;2.28	5.07	1.32	0.21799	.	0.492717	0.15236	N	0.273151	T	0.04407	0.0121	N	0.01576	-0.805	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42732	-0.9434	10	0.09843	T	0.71	-21.9371	4.7288	0.12954	0.5222:0.3067:0.1712:0.0	.	134;150;107;150	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	L	107;150;150;134	ENSP00000347541:S107L;ENSP00000380354:S150L;ENSP00000268981:S150L;ENSP00000441920:S134L	ENSP00000268981:S150L	S	-	2	0	SPATA22	3299074	0.984000	0.35163	0.046000	0.18839	0.031000	0.12232	1.472000	0.35376	0.035000	0.15519	-0.474000	0.04947	TCG		0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598	
SYNRG	11276	broad.mit.edu	37	17	35902342	35902342	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35902342C>T	ENST00000339208.6	-	15	3074	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	SYNRG_ENST00000591288.1_Silent_p.K772K|SYNRG_ENST00000394378.2_Silent_p.K900K|SYNRG_ENST00000345615.4_Silent_p.K900K|SYNRG_ENST00000346661.4_Silent_p.K978K|SYNRG_ENST00000502449.2_Silent_p.K855K|SYNRG_ENST00000585472.1_Silent_p.K899K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	978					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.K978K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTCATATTCCTTTTGCTCAC	0.498																																					p.K978K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2934A	17						.						102.0	100.0	101.0					17																	35902342		2203	4300	6503	32976455	SO:0001819	synonymous_variant	11276	exon15			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2934G>A	17.37:g.35902342C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32976455	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	CCDS11321.1																																																																																				0.498	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
ASPA	443	broad.mit.edu	37	17	3384971	3384971	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3384971A>G	ENST00000263080.2	+	2	469	c.311A>G	c.(310-312)gAc>gGc	p.D104G	ASPA_ENST00000456349.2_Missense_Mutation_p.D104G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	104					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.D104G(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GGTCCAAAAGACAGTGAAGAT	0.343																																					p.D104G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A311G	17						.						84.0	78.0	80.0					17																	3384971		2203	4299	6502	3331721	SO:0001583	missense	443	exon3			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.311A>G	17.37:g.3384971A>G	ENSP00000263080:p.Asp104Gly	Somatic		Capture	Illumina HiSeq	Phase_I	3331721	NM_001128085		Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	a	0.312	-0.967339	0.02232	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97505	-4.41;-4.41	5.35	1.42	0.22433	.	0.366695	0.33217	N	0.005160	T	0.74764	0.3759	N	0.00034	-2.565	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73591	-0.3934	10	0.02654	T	1	-0.2359	2.3435	0.04265	0.4143:0.0:0.3566:0.2291	.	104	P45381	ACY2_HUMAN	G	104	ENSP00000409976:D104G;ENSP00000263080:D104G	ENSP00000263080:D104G	D	+	2	0	ASPA	3331721	1.000000	0.71417	0.021000	0.16686	0.390000	0.30446	3.541000	0.53618	0.400000	0.25396	0.460000	0.39030	GAC		0.343	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	
SYNRG	11276	broad.mit.edu	37	17	35921355	35921355	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:35921355A>T	ENST00000339208.6	-	13	1745	c.1605T>A	c.(1603-1605)ccT>ccA	p.P535P	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Silent_p.P374P|SYNRG_ENST00000394378.2_Silent_p.P457P|SYNRG_ENST00000345615.4_Silent_p.P457P|SYNRG_ENST00000346661.4_Silent_p.P535P|SYNRG_ENST00000502449.2_Silent_p.P457P|SYNRG_ENST00000585472.1_Silent_p.P456P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	535	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.P535P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATTTATCACCAGGATCTATGA	0.358																																					p.P535P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1605A	17						.						78.0	81.0	80.0					17																	35921355		2202	4300	6502	32995468	SO:0001819	synonymous_variant	11276	exon13			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1605T>A	17.37:g.35921355A>T		Somatic		Capture	Illumina HiSeq	Phase_I	32995468	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	CCDS11321.1																																																																																				0.358	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
C17orf98	388381	broad.mit.edu	37	17	36993426	36993426	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:36993426C>A	ENST00000398575.4	-	2	340	c.275G>T	c.(274-276)aGa>aTa	p.R92I		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	92								p.R92I(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GTTGAGGTATCTTTGTCCTTG	0.522																																					p.R92I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275T	17						.						202.0	187.0	192.0					17																	36993426		1999	4169	6168	34246952	SO:0001583	missense	388381	exon2			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.275G>T	17.37:g.36993426C>A	ENSP00000381580:p.Arg92Ile	Somatic		Capture	Illumina HiSeq	Phase_I	34246952	NM_001080465		Missense_Mutation	SNP	ENST00000398575.4	37	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930111	0.52759	.	.	ENSG00000214556	ENST00000398575	T	0.44881	0.91	5.24	4.27	0.50696	.	0.402258	0.17674	U	0.165875	T	0.46795	0.1411	L	0.41236	1.265	0.48511	D	0.999663	D	0.55385	0.971	P	0.58454	0.839	T	0.21177	-1.0253	10	0.25751	T	0.34	-11.4794	9.87	0.41168	0.0:0.9048:0.0:0.0952	.	92	A8MV24	CQ098_HUMAN	I	92	ENSP00000381580:R92I	ENSP00000381580:R92I	R	-	2	0	C17orf98	34246952	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.802000	0.38853	1.233000	0.43693	0.298000	0.19748	AGA		0.522	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465	
FBXO47	494188	broad.mit.edu	37	17	37101258	37101258	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:37101258C>T	ENST00000378079.2	-	7	947	c.748G>A	c.(748-750)Gca>Aca	p.A250T		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	250								p.A250T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGTAATCTTGCCTGATTCACC	0.398																																					p.A250T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	17						.						149.0	137.0	141.0					17																	37101258		2203	4300	6503	34354784	SO:0001583	missense	494188	exon7				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.748G>A	17.37:g.37101258C>T	ENSP00000367319:p.Ala250Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34354784	NM_001008777	B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747747	0.89663	.	.	ENSG00000204952	ENST00000378079	T	0.69561	-0.41	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.68952	2.095	0.48511	D	0.999662	P	0.50443	0.935	P	0.45829	0.494	T	0.75542	-0.3281	10	0.66056	D	0.02	-2.7638	18.0027	0.89202	0.0:1.0:0.0:0.0	.	250	Q5MNV8	FBX47_HUMAN	T	250	ENSP00000367319:A250T	ENSP00000367319:A250T	A	-	1	0	FBXO47	34354784	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	2.601000	0.87937	0.585000	0.79938	GCA		0.398	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777	
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617																																					p.S232N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	17						.						89.0	90.0	89.0					17																	37371375		2203	4300	6503	34624901	SO:0001583	missense	342667	exon5			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.695G>A	17.37:g.37371375C>T	ENSP00000327509:p.Ser232Asn	Somatic		Capture	Illumina HiSeq	Phase_I	34624901	NM_198993	Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	STAC2	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC		0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993	
CDK12	51755	broad.mit.edu	37	17	37627589	37627589	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:37627589G>T	ENST00000447079.4	+	2	1537	c.1504G>T	c.(1504-1506)Gac>Tac	p.D502Y	CDK12_ENST00000430627.2_Missense_Mutation_p.D502Y	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	502					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D502Y(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGGAACAAGAGACTCTAAACC	0.418			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																											p.D502Y			Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1504T	17						.						118.0	128.0	125.0					17																	37627589		2203	4300	6503	34881115	SO:0001583	missense	51755	exon2			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1504G>T	17.37:g.37627589G>T	ENSP00000398880:p.Asp502Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34881115	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963694	0.53507	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70869	-0.52;-0.48	5.98	5.98	0.97165	.	0.000000	0.52532	D	0.000075	T	0.78978	0.4369	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.79412	-0.1814	10	0.62326	D	0.03	-12.8135	20.4581	0.99154	0.0:0.0:1.0:0.0	.	501;502;502	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Y	502	ENSP00000407720:D502Y;ENSP00000398880:D502Y	ENSP00000407720:D502Y	D	+	1	0	CDK12	34881115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.778000	0.75043	2.835000	0.97688	0.650000	0.86243	GAC		0.418	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
GRB7	2886	broad.mit.edu	37	17	37899685	37899685	+	Missense_Mutation	SNP	G	G	A	rs560775365		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:37899685G>A	ENST00000309156.4	+	6	882	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GRB7_ENST00000394204.1_Missense_Mutation_p.D209N|GRB7_ENST00000309185.3_Missense_Mutation_p.D209N|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.D209N|GRB7_ENST00000394209.2_Missense_Mutation_p.D209N|GRB7_ENST00000445327.2_Missense_Mutation_p.D232N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	209					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S206fs*16(1)|p.D209N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGCTGTCTCGATGCACACAC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18825	0.001		0.0	False		,,,				2504	0.0				p.D209N												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.G625A	17						.						139.0	120.0	126.0					17																	37899685		2203	4300	6503	35153211	SO:0001583	missense	2886	exon6			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.625G>A	17.37:g.37899685G>A	ENSP00000310771:p.Asp209Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35153211	NM_005310	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310830	0.60414	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.56776	0.44;1.58;1.58;1.58;1.57;0.44	5.84	5.84	0.93424	.	0.147568	0.64402	D	0.000015	T	0.55641	0.1933	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.59767	0.986;0.835	P;B	0.50270	0.636;0.361	T	0.57254	-0.7843	10	0.62326	D	0.03	-11.8699	17.0446	0.86499	0.0:0.0:1.0:0.0	.	209;209	Q14451-2;Q14451	.;GRB7_HUMAN	N	209;209;209;209;232;209	ENSP00000311752:D209N;ENSP00000310771:D209N;ENSP00000377761:D209N;ENSP00000377759:D209N;ENSP00000403459:D232N;ENSP00000377754:D209N	ENSP00000310771:D209N	D	+	1	0	GRB7	35153211	1.000000	0.71417	0.124000	0.21820	0.305000	0.27757	7.743000	0.85020	2.768000	0.95171	0.561000	0.74099	GAT		0.557	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
IKZF3	22806	broad.mit.edu	37	17	37988389	37988389	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:37988389G>A	ENST00000346872.3	-	2	84	c.23C>T	c.(22-24)gCg>gTg	p.A8V	IKZF3_ENST00000467757.1_Missense_Mutation_p.A8V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A8V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A8V|IKZF3_ENST00000346243.3_Missense_Mutation_p.A8V|IKZF3_ENST00000377952.2_Missense_Mutation_p.A8V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A8V|IKZF3_ENST00000439167.2_Missense_Mutation_p.A8V|IKZF3_ENST00000439016.2_Missense_Mutation_p.A8V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A8V|IKZF3_ENST00000535189.1_Missense_Mutation_p.A8V|IKZF3_ENST00000377958.2_Missense_Mutation_p.A8V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A8V	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	8					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A8V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTTCAGTTCCGCATTTGTTTG	0.368																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	17						.						107.0	106.0	106.0					17																	37988389		2203	4300	6503	35241915	SO:0001583	missense	22806	exon2			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.23C>T	17.37:g.37988389G>A	ENSP00000344544:p.Ala8Val	Somatic		Capture	Illumina HiSeq	Phase_I	35241915	NM_183230	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	0.664	-0.804640	0.02819	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T;T	0.08458	3.47;3.62;3.74;3.46;3.09;3.96;3.33;3.55;3.57;3.45;4.51	5.34	-2.47	0.06442	.	0.529823	0.15406	N	0.264021	T	0.03871	0.0109	N	0.08118	0	0.20074	N	0.999938	B;B;B;B;B;B;B;B;B;B;B;B;B	0.13594	0.008;0.0;0.0;0.0;0.0;0.002;0.0;0.001;0.0;0.0;0.0;0.004;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.13407	0.009;0.0;0.0;0.0;0.0;0.002;0.001;0.003;0.001;0.001;0.001;0.002;0.0	T	0.37798	-0.9690	10	0.30854	T	0.27	0.0011	10.6002	0.45362	0.5118:0.0:0.4882:0.0	.	8;8;8;8;8;8;8;8;8;8;8;8;8	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	V	8	ENSP00000344544:A8V;ENSP00000367180:A8V;ENSP00000377741:A8V;ENSP00000367179:A8V;ENSP00000367194:A8V;ENSP00000367188:A8V;ENSP00000438972:A8V;ENSP00000345622:A8V;ENSP00000341977:A8V;ENSP00000344471:A8V;ENSP00000420463:A8V	ENSP00000341977:A8V	A	-	2	0	IKZF3	35241915	0.767000	0.28508	0.728000	0.30774	0.513000	0.34164	-0.016000	0.12613	-0.876000	0.04017	-0.339000	0.08088	GCG		0.368	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
ZPBP2	124626	broad.mit.edu	37	17	38032951	38032951	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38032951G>A	ENST00000348931.4	+	8	1097	c.906G>A	c.(904-906)gcG>gcA	p.A302A	ZPBP2_ENST00000584588.1_Silent_p.A229A|ZPBP2_ENST00000377940.3_Silent_p.A280A	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	302					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.A302A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTAGTCCTGCGACTTTTAGTC	0.378																																					p.A302A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G906A	17						.						194.0	184.0	187.0					17																	38032951		2203	4300	6503	35286477	SO:0001819	synonymous_variant	124626	exon8			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.906G>A	17.37:g.38032951G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35286477	NM_199321	A8K8L8|Q6X783|Q86XL5	Silent	SNP	ENST00000348931.4	37	CCDS11352.1																																																																																				0.378	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844	
PSMD3	5709	broad.mit.edu	37	17	38145995	38145995	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38145995C>A	ENST00000264639.4	+	5	864	c.690C>A	c.(688-690)ttC>ttA	p.F230L	PSMD3_ENST00000541736.1_Missense_Mutation_p.F92L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	230					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.F230L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTTGAAGCTTCTTGCATGCTC	0.473																																					p.F230L	Ovarian(186;531 2051 6385 19668 48409)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C690A	17						.						49.0	44.0	46.0					17																	38145995		2203	4299	6502	35399521	SO:0001583	missense	5709	exon5			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.690C>A	17.37:g.38145995C>A	ENSP00000264639:p.Phe230Leu	Somatic		Capture	Illumina HiSeq	Phase_I	35399521	NM_002809	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314378	0.40996	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.75154	-0.91;-0.91	5.35	4.38	0.52667	Tetratricopeptide-like helical (1);PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61431	-0.7064	10	0.10111	T	0.7	-25.7058	14.1216	0.65192	0.0:0.9284:0.0:0.0716	.	230	O43242	PSMD3_HUMAN	L	230;217;92	ENSP00000264639:F230L;ENSP00000442508:F92L	ENSP00000264639:F230L	F	+	3	2	PSMD3	35399521	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.039000	0.41193	1.502000	0.48669	-0.136000	0.14681	TTC		0.473	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809	
THRA	7067	broad.mit.edu	37	17	38244625	38244625	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38244625A>G	ENST00000264637.4	+	8	1434	c.854A>G	c.(853-855)gAg>gGg	p.E285G	THRA_ENST00000394121.4_Missense_Mutation_p.E285G|THRA_ENST00000584985.1_Missense_Mutation_p.E285G|THRA_ENST00000546243.1_Missense_Mutation_p.E285G|THRA_ENST00000450525.2_Missense_Mutation_p.E285G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	285	Ligand-binding.			E -> A (in Ref. 1; CAB57886/CAA38899). {ECO:0000305}.	cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E285G(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAAGCGGGAGCAGCTCAAG	0.607																																					p.E285G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A854G	17						.						103.0	96.0	98.0					17																	38244625		2203	4300	6503	35498151	SO:0001583	missense	7067	exon8			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.854A>G	17.37:g.38244625A>G	ENSP00000264637:p.Glu285Gly	Somatic		Capture	Illumina HiSeq	Phase_I	35498151	NM_199334	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	a	13.59	2.283478	0.40394	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	L	0.45228	1.405	0.47037	D	0.999292	B;B;D	0.54601	0.005;0.003;0.967	B;B;B	0.44133	0.004;0.008;0.442	D	0.92895	0.6334	10	0.33940	T	0.23	.	13.707	0.62646	1.0:0.0:0.0:0.0	.	285;285;285	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	G	285	ENSP00000377679:E285G;ENSP00000264637:E285G;ENSP00000395641:E285G;ENSP00000443972:E285G	ENSP00000264637:E285G	E	+	2	0	THRA	35498151	0.322000	0.24634	1.000000	0.80357	0.994000	0.84299	0.933000	0.28897	1.869000	0.54173	0.398000	0.26397	GAG		0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2		
MSL1	339287	broad.mit.edu	37	17	38289816	38289816	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38289816G>T	ENST00000398532.4	+	7	1901	c.1586G>T	c.(1585-1587)aGa>aTa	p.R529I	MSL1_ENST00000578648.1_Missense_Mutation_p.R513I|MSL1_ENST00000579565.1_Missense_Mutation_p.R266I	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	529					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R328I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AGGGAACAAAGAATTTTACAG	0.393																																					p.R266I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797T	17						.						37.0	33.0	34.0					17																	38289816		1880	4121	6001	35543342	SO:0001583	missense	339287	exon8				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1586G>T	17.37:g.38289816G>T	ENSP00000381543:p.Arg529Ile	Somatic		Capture	Illumina HiSeq	Phase_I	35543342	NM_001012241	Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.839730	0.51057	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.43294	0.95	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	N	0.25332	0.735	0.80722	D	1	.	.	.	.	.	.	T	0.35992	-0.9766	8	0.51188	T	0.08	-19.6146	18.733	0.91742	0.0:0.0:1.0:0.0	.	.	.	.	I	266;529	ENSP00000381543:R529I	ENSP00000341409:R266I	R	+	2	0	MSL1	35543342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.724000	0.93272	0.561000	0.74099	AGA		0.393	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241	
KRT222	125113	broad.mit.edu	37	17	38812799	38812799	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38812799G>T	ENST00000476049.1	-	6	784	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	KRT222_ENST00000394052.3_Missense_Mutation_p.S248Y			Q8N1A0	KT222_HUMAN	keratin 222	248						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S248Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AAATCGAAGAGAAACAGACTT	0.358																																					p.S248Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743A	17						.						96.0	91.0	92.0					17																	38812799		2203	4300	6503	36066325	SO:0001583	missense	125113	exon6			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.743C>A	17.37:g.38812799G>T	ENSP00000463483:p.Ser248Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36066325	NM_152349	Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901601	0.92035	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.88509	-2.39	5.93	5.93	0.95920	.	0.154247	0.44902	U	0.000417	D	0.91912	0.7439	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92427	0.5950	10	0.87932	D	0	-8.9895	20.3334	0.98727	0.0:0.0:1.0:0.0	.	248	Q8N1A0	KT222_HUMAN	Y	208;248	ENSP00000377616:S248Y	ENSP00000377613:S208Y	S	-	2	0	KRT222	36066325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.168000	0.94781	2.818000	0.97014	0.591000	0.81541	TCT		0.358	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
KRT28	162605	broad.mit.edu	37	17	38953255	38953255	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38953255G>A	ENST00000306658.7	-	5	956	c.891C>T	c.(889-891)ggC>ggT	p.G297G		NM_181535.3	NP_853513.2			keratin 28									p.G297G(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AAGTGGCTGCGCCTGAGTCGT	0.662																																					p.G297G	Melanoma(19;789 869 15380 26882 39836)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	17						.						47.0	53.0	51.0					17																	38953255		2203	4300	6503	36206781	SO:0001819	synonymous_variant	162605	exon5			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.891C>T	17.37:g.38953255G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36206781	NM_181535		Silent	SNP	ENST00000306658.7	37	CCDS11376.1																																																																																				0.662	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535	
KRTAP4-3	85290	broad.mit.edu	37	17	39323881	39323881	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39323881T>C	ENST00000391356.2	-	1	543	c.544A>G	c.(544-546)Aca>Gca	p.T182A		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	182	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.T182A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AAGCAGGTTGTTCTACAGCAG	0.577																																					p.T182A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A544G	17						.						26.0	29.0	28.0					17																	39323881		2099	4235	6334	36577407	SO:0001583	missense	85290	exon1			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.544A>G	17.37:g.39323881T>C	ENSP00000375151:p.Thr182Ala	Somatic		Capture	Illumina HiSeq	Phase_I	36577407	NM_033187		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.590197	0.28357	.	.	ENSG00000196156	ENST00000391356	T	0.00587	6.38	4.33	-1.42	0.08913	.	.	.	.	.	T	0.00724	0.0024	L	0.59436	1.845	0.09310	N	1	B	0.18166	0.026	B	0.22386	0.039	T	0.35351	-0.9792	9	0.44086	T	0.13	.	7.913	0.29802	0.0:0.0948:0.5888:0.3164	.	182	Q9BYR4	KRA43_HUMAN	A	182	ENSP00000375151:T182A	ENSP00000375151:T182A	T	-	1	0	KRTAP4-3	36577407	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.270000	0.02831	-0.149000	0.11215	-0.256000	0.11100	ACA		0.577	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
KRT33A	3883	broad.mit.edu	37	17	39506865	39506865	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39506865A>G	ENST00000007735.3	-	1	199	c.155T>C	c.(154-156)tTc>tCc	p.F52S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	52	Head.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.F52S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACTGCCATTGAAGGAGCCCTC	0.647																																					p.F52S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T155C	17						.						94.0	97.0	96.0					17																	39506865		2201	4300	6501	36760391	SO:0001583	missense	3883	exon1			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.155T>C	17.37:g.39506865A>G	ENSP00000007735:p.Phe52Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36760391	NM_004138	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206394	0.79127	.	.	ENSG00000006059	ENST00000007735	D	0.82711	-1.64	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	D	0.90820	0.7117	M	0.84948	2.725	0.34706	D	0.727269	D	0.56287	0.975	P	0.62649	0.905	D	0.95001	0.8143	10	0.87932	D	0	.	14.3698	0.66830	1.0:0.0:0.0:0.0	.	52	O76009	KT33A_HUMAN	S	52	ENSP00000007735:F52S	ENSP00000007735:F52S	F	-	2	0	KRT33A	36760391	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.374000	0.34283	2.320000	0.78422	0.528000	0.53228	TTC		0.647	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138	
KRT33B	3884	broad.mit.edu	37	17	39521250	39521250	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39521250C>T	ENST00000251646.3	-	6	927	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	293	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R293Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAGAGAGTATCGCTGTGGTGG	0.552																																					p.R293Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	17						.						40.0	47.0	44.0					17																	39521250		2191	4300	6491	36774776	SO:0001630	splice_region_variant	3884	exon6			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.877-1G>A	17.37:g.39521250C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36774776	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	16.62	3.175326	0.57692	.	.	ENSG00000131738	ENST00000251646	D	0.89050	-2.46	4.85	4.85	0.62838	Filament (1);	0.000000	0.64402	D	0.000001	D	0.92799	0.7710	M	0.86178	2.8	0.33561	D	0.597325	P	0.39282	0.666	P	0.53722	0.733	D	0.95268	0.8375	10	0.87932	D	0	.	8.5958	0.33714	0.0:0.8931:0.0:0.1069	.	293	Q14525	KT33B_HUMAN	Q	293	ENSP00000251646:R293Q	ENSP00000251646:R293Q	R	-	2	0	KRT33B	36774776	0.821000	0.29204	0.778000	0.31720	0.067000	0.16453	1.294000	0.33365	2.666000	0.90696	0.650000	0.86243	CGA		0.552	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	Missense_Mutation
KRT33B	3884	broad.mit.edu	37	17	39525878	39525878	+	Missense_Mutation	SNP	C	C	T	rs138105031		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39525878C>T	ENST00000251646.3	-	1	174	c.125G>A	c.(124-126)aGc>aAc	p.S42N		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	42	Head.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S42N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GTTGCAGTTGCTCACATTGGC	0.642																																					p.S42N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125A	17						.	C	ASN/SER	1,4405		0,1,2202	75.0	73.0	74.0		125	4.4	1.0	17	dbSNP_134	74	0,8600		0,0,4300	no	missense	KRT33B	NM_002279.3	46	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	42/405	39525878	1,13005	2203	4300	6503	36779404	SO:0001583	missense	3884	exon1			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.125G>A	17.37:g.39525878C>T	ENSP00000251646:p.Ser42Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36779404	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	N	14.22	2.470041	0.43839	2.27E-4	0.0	ENSG00000131738	ENST00000251646	D	0.82081	-1.57	4.44	4.44	0.53790	.	0.174876	0.41097	D	0.000956	T	0.70168	0.3193	N	0.14661	0.345	0.22629	N	0.998916	B	0.06786	0.001	B	0.06405	0.002	T	0.63906	-0.6531	10	0.59425	D	0.04	.	12.7607	0.57363	0.0:1.0:0.0:0.0	.	42	Q14525	KT33B_HUMAN	N	42	ENSP00000251646:S42N	ENSP00000251646:S42N	S	-	2	0	KRT33B	36779404	0.968000	0.33430	1.000000	0.80357	0.894000	0.52154	3.572000	0.53849	2.467000	0.83353	0.650000	0.86243	AGC		0.642	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT31	3881	broad.mit.edu	37	17	39553729	39553729	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39553729G>A	ENST00000251645.2	-	1	115	c.63C>T	c.(61-63)tgC>tgT	p.C21C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	21	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.C21C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGGGGGGCACGCAGGGCCGGG	0.657																																					p.C21C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C63T	17						.																																			36807255	SO:0001819	synonymous_variant	3881	exon1			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.63C>T	17.37:g.39553729G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36807255	NM_002277	Q9UE12	Silent	SNP	ENST00000251645.2	37	CCDS11391.1																																																																																				0.657	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT32	3882	broad.mit.edu	37	17	39623482	39623482	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39623482C>T	ENST00000225899.3	-	1	199	c.96G>A	c.(94-96)cgG>cgA	p.R32R	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	32	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R32R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ACAGCTCAGGCCGGCAGTTCA	0.632																																					p.R32R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G96A	17						.						32.0	35.0	34.0					17																	39623482		2202	4299	6501	36877008	SO:0001819	synonymous_variant	3882	exon1			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.96G>A	17.37:g.39623482C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36877008	NM_002278		Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.632	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
KRT19	3880	broad.mit.edu	37	17	39680076	39680076	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39680076C>A	ENST00000361566.3	-	6	1182	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000393974.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	374	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E374D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CAATCTCCTGCTCCAGCCGCG	0.582																																					p.E374D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1122T	17						.						59.0	52.0	54.0					17																	39680076		2203	4300	6503	36933602	SO:0001583	missense	3880	exon6				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1122G>T	17.37:g.39680076C>A	ENSP00000355124:p.Glu374Asp	Somatic		Capture	Illumina HiSeq	Phase_I	36933602	NM_002276	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369632	0.95900	.	.	ENSG00000171345	ENST00000361566	D	0.88896	-2.44	5.03	5.03	0.67393	Filament (1);	0.000000	0.47455	D	0.000221	D	0.92941	0.7754	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.93490	0.6835	10	0.62326	D	0.03	.	18.3649	0.90388	0.0:1.0:0.0:0.0	.	537;374	B4DE59;P08727	.;K1C19_HUMAN	D	374	ENSP00000355124:E374D	ENSP00000355124:E374D	E	-	3	2	KRT19	36933602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.089000	0.57685	2.325000	0.78763	0.561000	0.74099	GAG		0.582	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276	
KRT9	3857	broad.mit.edu	37	17	39723799	39723799	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39723799C>A	ENST00000246662.4	-	7	1663	c.1598G>T	c.(1597-1599)gGc>gTc	p.G533V	KRT9_ENST00000588431.1_Missense_Mutation_p.G300V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	533	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G533V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				tccaccatagccacctccact	0.597																																					p.G533V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598T	17						.						291.0	181.0	218.0					17																	39723799		2140	4149	6289	36977325	SO:0001583	missense	3857	exon7				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1598G>T	17.37:g.39723799C>A	ENSP00000246662:p.Gly533Val	Somatic		Capture	Illumina HiSeq	Phase_I	36977325	NM_000226	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.557480	0.00910	.	.	ENSG00000171403	ENST00000246662	D	0.95949	-3.86	2.78	-0.906	0.10524	.	.	.	.	.	D	0.87321	0.6148	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.77384	-0.2608	9	0.72032	D	0.01	.	2.821	0.05471	0.2172:0.501:0.0:0.2818	.	533	P35527	K1C9_HUMAN	V	533	ENSP00000246662:G533V	ENSP00000246662:G533V	G	-	2	0	KRT9	36977325	0.005000	0.15991	0.004000	0.12327	0.000000	0.00434	0.880000	0.28159	-0.037000	0.13646	-0.343000	0.07986	GGC		0.597	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
DNAJC7	7266	broad.mit.edu	37	17	40148385	40148385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40148385G>A	ENST00000457167.4	-	4	585	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	DNAJC7_ENST00000426588.3_Missense_Mutation_p.R61C|DNAJC7_ENST00000316603.7_Missense_Mutation_p.R61C	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	117					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.R107C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGAAGCTGCGACATGCTGCC	0.493																																					p.R61C	Colon(63;618 1117 8600 10857 19751)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181T	17						.						88.0	82.0	84.0					17																	40148385		1920	4139	6059	37401911	SO:0001583	missense	7266	exon4			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.349C>T	17.37:g.40148385G>A	ENSP00000406463:p.Arg117Cys	Somatic		Capture	Illumina HiSeq	Phase_I	37401911	NM_001144766	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092066	0.94149	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.76578	1.24;-1.03;-1.03	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.045801	0.85682	D	0.000000	D	0.86351	0.5912	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.61658	0.786;0.892;0.856	D	0.86750	0.1960	10	0.62326	D	0.03	-4.4826	19.7014	0.96054	0.0:0.0:1.0:0.0	.	106;61;117	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	C	117;61;61	ENSP00000406463:R117C;ENSP00000394327:R61C;ENSP00000313311:R61C	ENSP00000313311:R61C	R	-	1	0	DNAJC7	37401911	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.444000	0.97578	2.729000	0.93468	0.655000	0.94253	CGC		0.493	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2		
NKIRAS2	28511	broad.mit.edu	37	17	40174540	40174540	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40174540G>A	ENST00000307641.5	+	3	839	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.R73Q|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.R71Q|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.R73Q|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.R73Q|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.R73Q	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	73	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R73Q(1)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAACTGCCCCGACACTGCTTC	0.567																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	17						.						58.0	52.0	54.0					17																	40174540		2203	4300	6503	37428066	SO:0001583	missense	28511	exon3			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.218G>A	17.37:g.40174540G>A	ENSP00000303580:p.Arg73Gln	Somatic		Capture	Illumina HiSeq	Phase_I	37428066	NM_017595	A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839111	0.71373	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000316082	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-0.13	5.43	3.4	0.38934	Small GTP-binding protein domain (1);	0.180825	0.45606	D	0.000341	T	0.73613	0.3609	M	0.73598	2.24	0.38150	D	0.938726	B	0.31879	0.344	B	0.34346	0.18	T	0.73167	-0.4068	10	0.72032	D	0.01	-7.8657	4.1871	0.10404	0.2923:0.1766:0.5312:0.0	.	73	Q9NYR9	KBRS2_HUMAN	Q	73;71;73;73;73;73	ENSP00000303580:R73Q;ENSP00000377462:R71Q;ENSP00000377458:R73Q;ENSP00000377459:R73Q;ENSP00000377463:R73Q;ENSP00000312773:R73Q	ENSP00000303580:R73Q	R	+	2	0	NKIRAS2	37428066	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	4.394000	0.59671	0.749000	0.32854	0.585000	0.79938	CGA		0.567	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595	
KCNH4	23415	broad.mit.edu	37	17	40323983	40323983	+	Missense_Mutation	SNP	G	G	A	rs147767631		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40323983G>A	ENST00000264661.3	-	7	1350	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	KCNH4_ENST00000607371.1_Missense_Mutation_p.R340W	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	340					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R340W(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		cgcaacagccgcaCTGTCTTC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16211	0.0		0.0	False		,,,				2504	0.0				p.R340W	NSCLC(117;707 1703 2300 21308 31858)											.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C1018T	17						.						41.0	27.0	32.0					17																	40323983		2199	4298	6497	37577509	SO:0001583	missense	23415	exon7			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1018C>T	17.37:g.40323983G>A	ENSP00000264661:p.Arg340Trp	Somatic		Capture	Illumina HiSeq	Phase_I	37577509	NM_012285		Missense_Mutation	SNP	ENST00000264661.3	37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492138	0.84962	.	.	ENSG00000089558	ENST00000264661	D	0.99376	-5.79	4.92	2.87	0.33458	Ion transport (1);	0.199813	0.24479	N	0.038161	D	0.99585	0.9850	H	0.96833	3.89	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.98298	1.0517	10	0.87932	D	0	.	14.082	0.64929	0.0:0.0:0.7249:0.275	.	340	Q9UQ05	KCNH4_HUMAN	W	340	ENSP00000264661:R340W	ENSP00000264661:R340W	R	-	1	2	KCNH4	37577509	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.207000	0.51106	0.756000	0.33013	-0.314000	0.08810	CGG		0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285	
STAT5B	6777	broad.mit.edu	37	17	40359740	40359740	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40359740C>A	ENST00000293328.3	-	16	2081	c.1913G>T	c.(1912-1914)aGa>aTa	p.R638I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	638	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R638I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAAACATTCTTTCCTCTAG	0.383																																					p.R638I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1913T	17						.						83.0	82.0	82.0					17																	40359740		2203	4300	6503	37613266	SO:0001583	missense	6777	exon16			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1913G>T	17.37:g.40359740C>A	ENSP00000293328:p.Arg638Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37613266	NM_012448	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170916	0.78452	.	.	ENSG00000173757	ENST00000293328	D	0.96104	-3.91	5.33	5.33	0.75918	SH2 motif (4);	0.041411	0.85682	D	0.000000	D	0.97096	0.9051	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	D	0.96937	0.9685	10	0.54805	T	0.06	-2.3546	19.2079	0.93742	0.0:1.0:0.0:0.0	.	638	P51692	STA5B_HUMAN	I	638	ENSP00000293328:R638I	ENSP00000293328:R638I	R	-	2	0	STAT5B	37613266	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.629000	0.83207	2.768000	0.95171	0.655000	0.94253	AGA		0.383	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
STAT3	6774	broad.mit.edu	37	17	40485938	40485938	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40485938G>A	ENST00000264657.5	-	9	1239	c.927C>T	c.(925-927)atC>atT	p.I309I	STAT3_ENST00000588969.1_Silent_p.I309I|STAT3_ENST00000585517.1_Silent_p.I309I|STAT3_ENST00000404395.3_Silent_p.I309I|STAT3_ENST00000389272.3_Silent_p.I211I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	309					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I309I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACAGCTCCACGATTCTCTCCT	0.448									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.I309I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927T	17						.						79.0	76.0	77.0					17																	40485938		2203	4300	6503	37739464	SO:0001819	synonymous_variant	6774	exon9	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.927C>T	17.37:g.40485938G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37739464	NM_213662	A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	CCDS32656.1																																																																																				0.448	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	
STAT3	6774	broad.mit.edu	37	17	40500461	40500461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40500461C>T	ENST00000264657.5	-	2	386	c.74G>A	c.(73-75)aGc>aAc	p.S25N	STAT3_ENST00000588969.1_Missense_Mutation_p.S25N|STAT3_ENST00000585517.1_Missense_Mutation_p.S25N|STAT3_ENST00000404395.3_Missense_Mutation_p.S25N|STAT3_ENST00000389272.3_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	25					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.S25N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74A	17						.						98.0	92.0	94.0					17																	40500461		2203	4300	6503	37753987	SO:0001583	missense	6774	exon2	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.74G>A	17.37:g.40500461C>T	ENSP00000264657:p.Ser25Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37753987	NM_213662	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088306	0.76756	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.51325	0.71;0.71	5.81	5.81	0.92471	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	N	0.02275	-0.615	0.53005	D	0.999969	B;D;D	0.59357	0.106;0.985;0.985	B;D;D	0.69824	0.316;0.966;0.966	T	0.53627	-0.8412	10	0.17832	T	0.49	-16.0869	20.0621	0.97678	0.0:1.0:0.0:0.0	.	25;25;25	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	N	25	ENSP00000264657:S25N;ENSP00000384943:S25N	ENSP00000264657:S25N	S	-	2	0	STAT3	37753987	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.922000	0.70036	2.750000	0.94351	0.655000	0.94253	AGC		0.498	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	
MLX	6945	broad.mit.edu	37	17	40722161	40722161	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40722161C>T	ENST00000246912.4	+	7	853	c.800C>T	c.(799-801)gCg>gTg	p.A267V	MLX_ENST00000346833.4_Missense_Mutation_p.A183V|MLX_ENST00000435881.2_Missense_Mutation_p.A213V	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	267					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A267V(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GAGCTGTCAGCGTGTGTCTTC	0.532																																					p.A213V	GBM(121;657 1601 4665 24731 34640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638T	17						.						111.0	92.0	99.0					17																	40722161		2203	4300	6503	37975687	SO:0001583	missense	6945	exon7			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.800C>T	17.37:g.40722161C>T	ENSP00000246912:p.Ala267Val	Somatic		Capture	Illumina HiSeq	Phase_I	37975687	NM_198204	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674894	0.96764	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.80653	-1.1;-1.4;-1.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;P;P	0.62435	0.866;0.709;0.902	D	0.87330	0.2324	10	0.48119	T	0.1	-21.0596	19.877	0.96880	0.0:1.0:0.0:0.0	.	183;267;213	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	V	183;267;213	ENSP00000320913:A183V;ENSP00000246912:A267V;ENSP00000416627:A213V	ENSP00000246912:A267V	A	+	2	0	MLX	37975687	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	7.809000	0.86057	2.709000	0.92574	0.561000	0.74099	GCG		0.532	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607	
CNTNAP1	8506	broad.mit.edu	37	17	40839806	40839806	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40839806C>T	ENST00000264638.4	+	8	1330	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	371					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.F371F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607																																					p.F371F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	17						.						118.0	105.0	110.0					17																	40839806		2203	4300	6503	38093332	SO:0001819	synonymous_variant	8506	exon8			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1113C>T	17.37:g.40839806C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38093332	NM_003632		Silent	SNP	ENST00000264638.4	37	CCDS11436.1																																																																																				0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
CNTNAP1	8506	broad.mit.edu	37	17	40844586	40844586	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40844586A>G	ENST00000264638.4	+	17	2817	c.2600A>G	c.(2599-2601)gAc>gGc	p.D867G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	867	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.D867G(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACTCAGACGACTTTGAGTTC	0.577																																					p.D867G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2600G	17						.						163.0	142.0	149.0					17																	40844586		2203	4300	6503	38098112	SO:0001583	missense	8506	exon17			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2600A>G	17.37:g.40844586A>G	ENSP00000264638:p.Asp867Gly	Somatic		Capture	Illumina HiSeq	Phase_I	38098112	NM_003632		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871943	0.33069	.	.	ENSG00000108797	ENST00000264638	T	0.77489	-1.1	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.099918	0.44688	D	0.000423	T	0.55784	0.1942	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.39375	-0.9617	10	0.21014	T	0.42	.	8.6818	0.34214	0.7856:0.0:0.0:0.2144	.	867	P78357	CNTP1_HUMAN	G	867	ENSP00000264638:D867G	ENSP00000264638:D867G	D	+	2	0	CNTNAP1	38098112	0.996000	0.38824	0.985000	0.45067	0.984000	0.73092	3.319000	0.51983	2.234000	0.73211	0.459000	0.35465	GAC		0.577	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
EZH1	2145	broad.mit.edu	37	17	40857132	40857132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:40857132C>T	ENST00000428826.2	-	17	2030	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	EZH1_ENST00000585893.1_Missense_Mutation_p.E597K|EZH1_ENST00000592743.1_Missense_Mutation_p.E637K|EZH1_ENST00000590078.1_Missense_Mutation_p.E567K|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000415827.2_Missense_Mutation_p.E628K|EZH1_ENST00000435174.1_Missense_Mutation_p.E498K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	637	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E637K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GAAATGAATTCGTTCTTCTGC	0.527																																					p.E637K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1909A	17						.						97.0	91.0	93.0					17																	40857132		2203	4300	6503	38110658	SO:0001583	missense	2145	exon17				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1909G>A	17.37:g.40857132C>T	ENSP00000404658:p.Glu637Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38110658	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	37	6.011765	0.97200	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.85339	-1.97;-1.97	5.41	5.41	0.78517	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.999	D;D;D;D;D	0.74023	0.951;0.969;0.951;0.918;0.982	D	0.93522	0.6862	10	0.66056	D	0.02	.	19.3785	0.94521	0.0:1.0:0.0:0.0	.	498;597;643;567;637	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	K	640;637;597;498	ENSP00000404658:E637K;ENSP00000404071:E498K	ENSP00000264646:E640K	E	-	1	0	EZH1	38110658	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.647000	0.83462	2.802000	0.96397	0.563000	0.77884	GAA		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
G6PC	2538	broad.mit.edu	37	17	41059632	41059632	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41059632A>G	ENST00000253801.2	+	3	512	c.433A>G	c.(433-435)Acc>Gcc	p.T145A	G6PC_ENST00000585489.1_Missense_Mutation_p.T145A|G6PC_ENST00000592383.1_Missense_Mutation_p.D119G	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	145					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.T145A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATAAAGCCGACCTACAGATT	0.527																																					p.T145A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A433G	17						.						62.0	54.0	56.0					17																	41059632		2203	4300	6503	38313158	SO:0001583	missense	2538	exon3			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.433A>G	17.37:g.41059632A>G	ENSP00000253801:p.Thr145Ala	Somatic		Capture	Illumina HiSeq	Phase_I	38313158	NM_000151	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	A	9.757	1.169142	0.21621	.	.	ENSG00000131482	ENST00000253801	T	0.75050	-0.9	5.05	5.05	0.67936	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.460623	0.21110	N	0.080015	T	0.56232	0.1971	N	0.16903	0.455	0.41578	D	0.988726	P	0.38617	0.64	B	0.40602	0.334	T	0.56583	-0.7955	10	0.06236	T	0.91	.	10.5684	0.45186	0.8557:0.0:0.0:0.1443	.	145	P35575	G6PC_HUMAN	A	145	ENSP00000253801:T145A	ENSP00000253801:T145A	T	+	1	0	G6PC	38313158	.	.	0.955000	0.39395	0.341000	0.28922	.	.	2.116000	0.64780	0.454000	0.30748	ACC		0.527	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
PTGES3L	100885848	broad.mit.edu	37	17	41131260	41131260	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41131260C>T	ENST00000453594.1	-	3	664				PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R54H|PTGES3L_ENST00000409446.3_Missense_Mutation_p.R77H|RP11-376M2.2_ENST00000587526.1_RNA|RUNDC1_ENST00000361677.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R54H|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R115H|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R115H	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like									p.R54H(1)									AGTAATAGAGCGGGAAGAGCG	0.517																																					p.R77H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230A	17						.						145.0	156.0	153.0					17																	41131260		2203	4300	6503	38384786	SO:0001627	intron_variant	80755	exon3				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.318+134G>A	17.37:g.41131260C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38384786	NM_001142654		Missense_Mutation	SNP	ENST00000453594.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.886221|4.886221	0.91814|0.91814	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000409446	.|T;T;T;T;T;T	.|0.34667	.|1.35;1.35;1.35;1.35;1.35;1.35	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61299|0.61299	0.2336|0.2336	M|M	0.71296|0.71296	2.17|2.17	.|.	.|.	.|.	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.996;0.995;0.999;0.993	T|T	0.62613|0.62613	-0.6817|-0.6817	4|9	.|0.54805	.|T	.|0.06	-14.6857|-14.6857	18.6708|18.6708	0.91510|0.91510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|77;115;54;72	.|B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.	T|H	44|54;115;115;54;54;77	.|ENSP00000353355:R54H;ENSP00000386621:R115H;ENSP00000409924:R115H;ENSP00000386254:R54H;ENSP00000407951:R54H;ENSP00000386902:R77H	.|ENSP00000353355:R54H	A|R	-|-	1|2	0|0	AARSD1|AARSD1	38384786|38384786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.441000|5.441000	0.66569|0.66569	2.625000|2.625000	0.88918|0.88918	0.643000|0.643000	0.83706|0.83706	GCT|CGC		0.517	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653	
RUNDC1	146923	broad.mit.edu	37	17	41143372	41143372	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41143372G>A	ENST00000361677.1	+	5	1493	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	494	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.R494Q(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAGCCCGGAAGCTCTCC	0.582																																					p.R494Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1481A	17						.						69.0	69.0	69.0					17																	41143372		2203	4300	6503	38396898	SO:0001583	missense	146923	exon5			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1481G>A	17.37:g.41143372G>A	ENSP00000354622:p.Arg494Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38396898	NM_173079	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173660	0.94807	.	.	ENSG00000198863	ENST00000361677	T	0.32753	1.44	5.02	5.02	0.67125	RUN (2);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.53671	1.685	0.80722	D	1	D	0.61080	0.989	P	0.53954	0.738	T	0.14952	-1.0454	10	0.32370	T	0.25	-28.2317	18.5295	0.90986	0.0:0.0:1.0:0.0	.	494	Q96C34	RUND1_HUMAN	Q	494	ENSP00000354622:R494Q	ENSP00000354622:R494Q	R	+	2	0	RUNDC1	38396898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.609000	0.74173	2.598000	0.87819	0.655000	0.94253	CGG		0.582	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079	
ZZEF1	23140	broad.mit.edu	37	17	3935529	3935529	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3935529G>A	ENST00000381638.2	-	42	6907	c.6783C>T	c.(6781-6783)tgC>tgT	p.C2261C		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2261							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.C2261C(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCATATAAACGCAGCGGGTTC	0.448																																					p.C2261C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6783T	17						.						103.0	98.0	100.0					17																	3935529		2203	4300	6503	3882278	SO:0001819	synonymous_variant	23140	exon42			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6783C>T	17.37:g.3935529G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3882278	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
BRCA1	672	broad.mit.edu	37	17	41245087	41245087	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41245087C>A	ENST00000357654.3	-	10	2579	c.2461G>T	c.(2461-2463)Gat>Tat	p.D821Y	BRCA1_ENST00000309486.4_Missense_Mutation_p.D525Y|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D774Y|BRCA1_ENST00000471181.2_Missense_Mutation_p.D821Y|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.D821Y|BRCA1_ENST00000346315.3_Missense_Mutation_p.D821Y|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	821					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D821Y(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTCTATTATCTTTGGAACAA	0.398			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.D821Y		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2461T	17						.						196.0	196.0	196.0					17																	41245087		2203	4300	6503	38498613	SO:0001583	missense	672	exon10	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2461G>T	17.37:g.41245087C>A	ENSP00000350283:p.Asp821Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38498613	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947283	0.18356	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.93	0.0738	0.14392	.	0.339266	0.25402	N	0.030924	D	0.86615	0.5975	M	0.90870	3.155	0.09310	N	1	D;D;D;D;D;D	0.89917	0.995;0.995;0.987;0.999;1.0;0.999	D;D;D;D;D;D	0.79108	0.954;0.954;0.934;0.986;0.992;0.959	T	0.75557	-0.3276	10	0.87932	D	0	.	4.5066	0.11891	0.1941:0.4003:0.0:0.4055	.	821;780;821;821;821;821	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Y	821;821;821;821;525;821;774	ENSP00000350283:D821Y;ENSP00000326002:D821Y;ENSP00000246907:D821Y;ENSP00000310938:D525Y;ENSP00000418960:D821Y;ENSP00000418775:D774Y	ENSP00000310938:D525Y	D	-	1	0	BRCA1	38498613	0.000000	0.05858	0.002000	0.10522	0.214000	0.24535	0.064000	0.14437	0.171000	0.19730	0.484000	0.47621	GAT		0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
DHX8	1659	broad.mit.edu	37	17	41570378	41570378	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41570378T>C	ENST00000262415.3	+	6	905	c.833T>C	c.(832-834)tTt>tCt	p.F278S	DHX8_ENST00000540306.1_Missense_Mutation_p.F278S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	278	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F278S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATCATGCAGTTTGGTTGCTTT	0.463																																					p.F278S	NSCLC(56;1548 1661 49258 49987)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T833C	17						.						151.0	142.0	145.0					17																	41570378		2203	4300	6503	38925904	SO:0001583	missense	1659	exon6			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.833T>C	17.37:g.41570378T>C	ENSP00000262415:p.Phe278Ser	Somatic		Capture	Illumina HiSeq	Phase_I	38925904	NM_004941		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443591	0.63067	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.46819	0.86;0.86	5.37	5.37	0.77165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.92412	3.305	0.80722	D	1	B;P	0.48016	0.099;0.904	B;P	0.50754	0.124;0.649	T	0.77310	-0.2635	10	0.72032	D	0.01	.	14.5499	0.68059	0.0:0.0:0.0:1.0	.	278;278	F5H658;Q14562	.;DHX8_HUMAN	S	278	ENSP00000437886:F278S;ENSP00000262415:F278S	ENSP00000262415:F278S	F	+	2	0	DHX8	38925904	1.000000	0.71417	0.969000	0.41365	0.896000	0.52359	7.634000	0.83273	2.030000	0.59900	0.383000	0.25322	TTT		0.463	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
ETV4	2118	broad.mit.edu	37	17	41610182	41610182	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41610182C>A	ENST00000319349.5	-	8	969	c.671G>T	c.(670-672)aGc>aTc	p.S224I	ETV4_ENST00000591713.1_Missense_Mutation_p.S224I|ETV4_ENST00000393664.2_Missense_Mutation_p.S224I|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000538265.1_Missense_Mutation_p.S185I|ETV4_ENST00000545089.1_Missense_Mutation_p.S170I|ETV4_ENST00000545954.1_Missense_Mutation_p.S185I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	224	Gln-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S224I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TTGCTTAAAGCTCTGCTGGGG	0.637			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																p.S224I	Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G671T	17						.						46.0	51.0	49.0					17																	41610182		2202	4300	6502	38965708	SO:0001583	missense	2118	exon8			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.671G>T	17.37:g.41610182C>A	ENSP00000321835:p.Ser224Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38965708	NM_001986	A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998820	0.54147	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.69	1.06	0.20224	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.371953	0.30547	N	0.009387	T	0.24198	0.0586	L	0.53249	1.67	0.28870	N	0.89502	B;B;B	0.27192	0.086;0.171;0.055	B;B;B	0.33295	0.126;0.161;0.137	T	0.23332	-1.0191	10	0.66056	D	0.02	.	8.0476	0.30559	0.0:0.6871:0.1144:0.1985	.	170;185;224	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	I	224;224;185;185;170	ENSP00000321835:S224I;ENSP00000377273:S224I;ENSP00000443846:S185I;ENSP00000440023:S185I;ENSP00000441749:S170I	ENSP00000321835:S224I	S	-	2	0	ETV4	38965708	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.477000	0.35431	0.735000	0.32537	0.549000	0.68633	AGC		0.637	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986	
MPP3	4356	broad.mit.edu	37	17	41886434	41886434	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:41886434G>A	ENST00000398389.4	-	19	1636	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	MPP3_ENST00000398393.1_Silent_p.L516L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	491	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.L491L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAGGTCCTCAGTTGTTTCAGT	0.368																																					p.L491L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1471T	17						.						99.0	100.0	99.0					17																	41886434		1808	4067	5875	39241960	SO:0001819	synonymous_variant	4356	exon19				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1471C>T	17.37:g.41886434G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39241960	NM_001932	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	CCDS42344.1																																																																																				0.368	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932	
LSM12	124801	broad.mit.edu	37	17	42114892	42114892	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42114892T>G	ENST00000591247.1	-	5	705	c.383A>C	c.(382-384)aAa>aCa	p.K128T	LSM12_ENST00000293406.3_Missense_Mutation_p.K128T|LSM12_ENST00000585388.1_Missense_Mutation_p.K128T	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	128								p.K128T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTCTTGCCATTTACAGTCTTT	0.438																																					p.K128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A383C	17						.						109.0	99.0	102.0					17																	42114892		2203	4300	6503	39470418	SO:0001583	missense	124801	exon5			BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.383A>C	17.37:g.42114892T>G	ENSP00000466718:p.Lys128Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39470418	NM_152344	Q86YB1|Q96NL5	Missense_Mutation	SNP	ENST00000591247.1	37	CCDS11475.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856418	0.51376	.	.	ENSG00000161654	ENST00000293406	T	0.32023	1.47	5.63	5.63	0.86233	RNA-processing, Lsm domain (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	N	0.11201	0.11	0.80722	D	1	D	0.56287	0.975	P	0.58520	0.84	T	0.10497	-1.0627	10	0.14656	T	0.56	-7.4729	15.1107	0.72355	0.0:0.0:0.0:1.0	.	128	Q3MHD2	LSM12_HUMAN	T	128	ENSP00000293406:K128T	ENSP00000293406:K128T	K	-	2	0	LSM12	39470418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.270000	0.75569	0.460000	0.39030	AAA		0.438	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344	
C17orf53	78995	broad.mit.edu	37	17	42226050	42226050	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42226050A>C	ENST00000319977.4	+	3	1116	c.879A>C	c.(877-879)caA>caC	p.Q293H	C17orf53_ENST00000585683.1_Missense_Mutation_p.Q293H|C17orf53_ENST00000245382.6_Missense_Mutation_p.Q293H	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	293								p.Q293H(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCAGCCCTCAAAATCGTTTCC	0.527																																					p.Q293H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A879C	17						.						162.0	161.0	161.0					17																	42226050		2203	4300	6503	39581576	SO:0001583	missense	78995	exon3			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.879A>C	17.37:g.42226050A>C	ENSP00000313500:p.Gln293His	Somatic		Capture	Illumina HiSeq	Phase_I	39581576	NM_001171251	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.433436	0.62844	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.52295	0.67;0.68	5.05	1.67	0.24075	.	0.421188	0.21074	N	0.080607	T	0.48750	0.1517	L	0.59436	1.845	0.09310	N	1	D;B;D	0.53151	0.958;0.356;0.958	P;B;P	0.51135	0.66;0.164;0.66	T	0.38436	-0.9661	10	0.52906	T	0.07	-0.7883	7.0553	0.25095	0.6072:0.0:0.3928:0.0	.	293;293;293	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	H	293	ENSP00000313500:Q293H;ENSP00000245382:Q293H	ENSP00000245382:Q293H	Q	+	3	2	C17orf53	39581576	0.000000	0.05858	0.096000	0.21009	0.372000	0.29890	0.264000	0.18497	0.106000	0.17784	0.454000	0.30748	CAA		0.527	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032	
UBTF	7343	broad.mit.edu	37	17	42288690	42288690	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42288690C>A	ENST00000302904.4	-	11	1549	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	UBTF_ENST00000393606.3_Missense_Mutation_p.D316Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D353Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.D316Y|UBTF_ENST00000533177.1_Missense_Mutation_p.D316Y|UBTF_ENST00000529383.1_Missense_Mutation_p.D353Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D316Y|UBTF_ENST00000527034.1_Missense_Mutation_p.D316Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	353					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D353Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCTCGTAATCTTTCTTTTTC	0.582																																					p.D316Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946T	17						.						73.0	64.0	67.0					17																	42288690		2203	4300	6503	39644216	SO:0001583	missense	7343	exon10			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1057G>T	17.37:g.42288690C>A	ENSP00000302640:p.Asp353Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39644216	NM_001076683	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.033001	0.75504	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.34	3.36	0.38483	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.057453	0.64402	D	0.000002	T	0.46541	0.1398	N	0.24115	0.695	0.44771	D	0.997774	D;P;D	0.64830	0.994;0.927;0.99	D;P;D	0.68943	0.961;0.702;0.961	T	0.49041	-0.8980	10	0.72032	D	0.01	-22.246	11.7069	0.51601	0.0:0.9064:0.0:0.0936	.	316;316;353	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Y	316;353;316;316;353;316;316;353	ENSP00000345297:D316Y;ENSP00000302640:D353Y;ENSP00000431539:D316Y;ENSP00000437180:D316Y;ENSP00000390669:D353Y;ENSP00000377231:D316Y;ENSP00000432925:D316Y;ENSP00000435708:D353Y	ENSP00000302640:D353Y	D	-	1	0	UBTF	39644216	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.682000	0.46934	2.408000	0.81797	0.491000	0.48974	GAT		0.582	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
UBTF	7343	broad.mit.edu	37	17	42289018	42289018	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42289018G>T	ENST00000302904.4	-	10	1495	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	UBTF_ENST00000393606.3_Missense_Mutation_p.L298M|UBTF_ENST00000436088.1_Missense_Mutation_p.L335M|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.L298M|UBTF_ENST00000533177.1_Missense_Mutation_p.L298M|UBTF_ENST00000529383.1_Missense_Mutation_p.L335M|UBTF_ENST00000526094.1_Missense_Mutation_p.L298M|UBTF_ENST00000527034.1_Missense_Mutation_p.L298M			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	335					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L335M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTGGGACAGCAGCTTCCAC	0.577																																					p.L298M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C892A	17						.						100.0	94.0	96.0					17																	42289018		2203	4300	6503	39644544	SO:0001583	missense	7343	exon9			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1003C>A	17.37:g.42289018G>T	ENSP00000302640:p.Leu335Met	Somatic		Capture	Illumina HiSeq	Phase_I	39644544	NM_001076683	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	18.12	3.552672	0.65425	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	T	0.26557	0.0649	L	0.29908	0.895	0.58432	D	0.999998	B;D;P	0.59767	0.299;0.986;0.846	P;D;P	0.65010	0.805;0.931;0.781	T	0.02893	-1.1097	10	0.17369	T	0.5	-17.4501	16.7668	0.85526	0.0:0.0:1.0:0.0	.	298;298;335	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	M	298;335;298;298;335;298;298;335	ENSP00000345297:L298M;ENSP00000302640:L335M;ENSP00000431539:L298M;ENSP00000437180:L298M;ENSP00000390669:L335M;ENSP00000377231:L298M;ENSP00000432925:L298M;ENSP00000435708:L335M	ENSP00000302640:L335M	L	-	1	2	UBTF	39644544	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.318000	0.72866	2.291000	0.77112	0.491000	0.48974	CTG		0.577	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42458006G>A	ENST00000262407.5	-	14	1432	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	467					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.I467I(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602																																					p.I467I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1401T	17						.						118.0	111.0	114.0					17																	42458006		2203	4300	6503	39813532	SO:0001819	synonymous_variant	3674	exon14				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1401C>T	17.37:g.42458006G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39813532	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	CCDS32665.1																																																																																				0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
ITGA2B	3674	broad.mit.edu	37	17	42462332	42462332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42462332G>T	ENST00000262407.5	-	7	814	c.783C>A	c.(781-783)taC>taA	p.Y261*	ITGA2B_ENST00000377068.3_Intron|ITGA2B_ENST00000353281.4_Nonsense_Mutation_p.Y261*	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	261					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.Y261*(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCCGTCGAAGTACTCTGGGT	0.612																																					p.Y261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C783A	17						.						87.0	97.0	94.0					17																	42462332		2203	4300	6503	39817858	SO:0001587	stop_gained	3674	exon7				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.783C>A	17.37:g.42462332G>T	ENSP00000262407:p.Tyr261*	Somatic		Capture	Illumina HiSeq	Phase_I	39817858	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Nonsense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433591	0.83776	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	5.14	1.99	0.26369	.	0.981664	0.08242	U	0.976016	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5144	0.11928	0.2037:0.1861:0.6102:0.0	.	.	.	.	X	261	.	ENSP00000262407:Y261X	Y	-	3	2	ITGA2B	39817858	0.118000	0.22208	0.064000	0.19789	0.162000	0.22319	1.628000	0.37060	0.642000	0.30620	-0.438000	0.05819	TAC		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
FZD2	2535	broad.mit.edu	37	17	42635329	42635329	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42635329C>T	ENST00000315323.3	+	1	405	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	91	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F91F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCTTCTTCCTGTGCTCCA	0.647																																					p.F91F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	17						.						122.0	114.0	117.0					17																	42635329		2203	4300	6503	39990855	SO:0001819	synonymous_variant	2535	exon1			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.273C>T	17.37:g.42635329C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39990855	NM_001466	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.647	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466	
FZD2	2535	broad.mit.edu	37	17	42636355	42636355	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42636355C>T	ENST00000315323.3	+	1	1431	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	433					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A433A(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCTCCTGGCCGGCTTCGTGT	0.637																																					p.A433A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1299T	17						.						104.0	95.0	98.0					17																	42636355		2203	4300	6503	39991881	SO:0001819	synonymous_variant	2535	exon1			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1299C>T	17.37:g.42636355C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39991881	NM_001466	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466	
C17orf104	284071	broad.mit.edu	37	17	42744749	42744749	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42744749T>G	ENST00000409122.2	+	5	1612	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	C17orf104_ENST00000359945.3_Silent_p.P490P|C17orf104_ENST00000409464.1_Silent_p.P324P	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	490								p.P490P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CTCCTATTCCTTATCGAAATC	0.333																																					p.P490P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1470G	17						.						57.0	60.0	59.0					17																	42744749		2203	4300	6503	40100275	SO:0001819	synonymous_variant	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1470T>G	17.37:g.42744749T>G		Somatic		Capture	Illumina HiSeq	Phase_I	40100275	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Silent	SNP	ENST00000409122.2	37	CCDS45703.2																																																																																				0.333	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
DBF4B	80174	broad.mit.edu	37	17	42807327	42807327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42807327G>T	ENST00000315005.3	+	4	418	c.280G>T	c.(280-282)Gaa>Taa	p.E94*	DBF4B_ENST00000398338.3_Nonsense_Mutation_p.E94*|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Nonsense_Mutation_p.E94*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	94	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.E94*(2)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAGCCGCAGAGAAGTAAAGGC	0.493																																					p.E94X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G280T	17						.						103.0	94.0	97.0					17																	42807327		2203	4300	6503	40162853	SO:0001587	stop_gained	80174	exon4			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.280G>T	17.37:g.42807327G>T	ENSP00000323663:p.Glu94*	Somatic		Capture	Illumina HiSeq	Phase_I	40162853	NM_025104	D3DX56|Q8TEX0|Q96B19|Q9H912	Nonsense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716142	0.89205	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	.	.	.	4.62	4.62	0.57501	.	0.085679	0.48286	D	0.000187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.7899	12.8384	0.57786	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000323663:E94X	E	+	1	0	DBF4B	40162853	1.000000	0.71417	0.941000	0.38009	0.819000	0.46315	3.038000	0.49783	2.388000	0.81334	0.561000	0.74099	GAA		0.493	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104	
DBF4B	80174	broad.mit.edu	37	17	42818751	42818751	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42818751C>A	ENST00000315005.3	+	10	899	c.761C>A	c.(760-762)tCt>tAt	p.S254Y	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.S254Y	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	254					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S254Y(2)|p.S254F(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGAAATTTCTTTTCTTGGA	0.483																																					p.S254Y												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C761A	17						.						131.0	127.0	128.0					17																	42818751		2203	4300	6503	40174277	SO:0001583	missense	80174	exon10			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.761C>A	17.37:g.42818751C>A	ENSP00000323663:p.Ser254Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40174277	NM_025104	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865016	0.51482	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.13307	2.6;2.6	5.58	3.49	0.39957	.	0.419888	0.21739	N	0.069860	T	0.26122	0.0637	L	0.45581	1.43	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74023	0.971;0.97;0.982	T	0.00263	-1.1866	10	0.52906	T	0.07	-22.6945	9.7074	0.40225	0.1546:0.6949:0.1504:0.0	.	254;254;68	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	Y	254	ENSP00000377178:S254Y;ENSP00000323663:S254Y	ENSP00000323663:S254Y	S	+	2	0	DBF4B	40174277	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.588000	0.23924	2.622000	0.88805	0.655000	0.94253	TCT		0.483	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104	
ADAM11	4185	broad.mit.edu	37	17	42853540	42853540	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42853540G>A	ENST00000200557.6	+	18	1700	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D311N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	511	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D511N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAACGAGTGCGACATCGCGGA	0.672																																					p.D511N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1531A	17						.						86.0	92.0	90.0					17																	42853540		2203	4300	6503	40209066	SO:0001583	missense	4185	exon18			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1531G>A	17.37:g.42853540G>A	ENSP00000200557:p.Asp511Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40209066	NM_002390	Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	37	6.031261	0.97221	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.14766	2.48;2.48	4.45	4.45	0.53987	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55755	-0.8091	10	0.87932	D	0	.	16.0212	0.80493	0.0:0.0:1.0:0.0	.	311;511	B4DKD2;O75078	.;ADA11_HUMAN	N	511;311;411	ENSP00000200557:D511N;ENSP00000443773:D311N	ENSP00000200557:D511N	D	+	1	0	ADAM11	40209066	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.318000	0.96334	2.303000	0.77524	0.542000	0.68232	GAC		0.672	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	
ANKFY1	51479	broad.mit.edu	37	17	4077244	4077244	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4077244A>C	ENST00000341657.4	-	20	2918	c.2883T>G	c.(2881-2883)aaT>aaG	p.N961K	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.N962K|ANKFY1_ENST00000570535.1_Missense_Mutation_p.N1003K	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	961					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.N962K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGTCCACGCCATTCTCTAGGA	0.547																																					p.N962K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2886G	17						.						131.0	139.0	136.0					17																	4077244		2130	4247	6377	4023993	SO:0001583	missense	51479	exon20			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2883T>G	17.37:g.4077244A>C	ENSP00000343362:p.Asn961Lys	Somatic		Capture	Illumina HiSeq	Phase_I	4023993	NM_016376	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.970752	0.74246	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	1.91	0.25777	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.71674	0.998;0.99;0.993;0.993	D;P;D;D	0.80764	0.994;0.893;0.91;0.91	T	0.44375	-0.9332	9	0.28530	T	0.3	-23.6238	8.7719	0.34737	0.7068:0.0:0.2932:0.0	.	903;961;962;1003	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	K	962;903	.	ENSP00000343362:N962K	N	-	3	2	ANKFY1	4023993	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	1.138000	0.31491	0.386000	0.24997	0.379000	0.24179	AAT		0.547	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
GJC1	10052	broad.mit.edu	37	17	42882279	42882279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:42882279C>T	ENST00000426548.1	-	3	1176	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	GJC1_ENST00000330514.4_Missense_Mutation_p.E303K|GJC1_ENST00000592524.1_Missense_Mutation_p.E303K|GJC1_ENST00000590758.1_Missense_Mutation_p.E303K	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	303					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.E303K(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TTGGACAGTTCGGTGTACTGG	0.493																																					p.E303K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G907A	17						.						214.0	204.0	207.0					17																	42882279		2203	4300	6503	40237805	SO:0001583	missense	10052	exon3			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.907G>A	17.37:g.42882279C>T	ENSP00000411528:p.Glu303Lys	Somatic		Capture	Illumina HiSeq	Phase_I	40237805	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	9.794	1.178634	0.21787	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	T;T	0.81247	-1.47;-1.47	5.48	5.48	0.80851	.	0.058787	0.64402	D	0.000001	T	0.62768	0.2455	N	0.08118	0	0.47183	D	0.999344	B	0.13594	0.008	B	0.06405	0.002	T	0.61302	-0.7090	10	0.05833	T	0.94	.	18.3265	0.90256	0.0:1.0:0.0:0.0	.	303	P36383	CXG1_HUMAN	K	303	ENSP00000411528:E303K;ENSP00000333193:E303K	ENSP00000333193:E303K	E	-	1	0	GJC1	40237805	1.000000	0.71417	0.794000	0.32065	0.872000	0.50106	7.818000	0.86416	2.569000	0.86673	0.655000	0.94253	GAA		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
KIF18B	146909	broad.mit.edu	37	17	43013438	43013438	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:43013438C>T	ENST00000593135.1	-	2	372	c.275G>A	c.(274-276)aGc>aAc	p.S92N	KIF18B_ENST00000587309.1_Missense_Mutation_p.S92N|KIF18B_ENST00000339151.4_Missense_Mutation_p.S92N|KIF18B_ENST00000590129.1_Missense_Mutation_p.S101N|KIF18B_ENST00000438933.2_Missense_Mutation_p.S92N	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	101	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.S92N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTCCAGGACGCTGTGCGTGGT	0.617																																					p.S92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	17						.						52.0	59.0	57.0					17																	43013438		2179	4271	6450	40368964	SO:0001583	missense	146909	exon2				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.275G>A	17.37:g.43013438C>T	ENSP00000465992:p.Ser92Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40368964	NM_001080443	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	5.569	0.289842	0.10567	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72725	-0.68;-0.68	5.25	3.23	0.37069	Kinesin, motor domain (4);	0.340571	0.21549	N	0.072780	T	0.52581	0.1743	L	0.31207	0.915	0.09310	N	1	B;B;B	0.12013	0.005;0.004;0.004	B;B;B	0.12837	0.008;0.005;0.005	T	0.28744	-1.0034	10	0.17369	T	0.5	.	7.434	0.27145	0.0:0.672:0.0:0.328	.	101;101;101	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	N	92	ENSP00000412798:S92N;ENSP00000341466:S92N	ENSP00000341466:S92N	S	-	2	0	KIF18B	40368964	0.000000	0.05858	0.992000	0.48379	0.113000	0.19764	0.096000	0.15147	1.335000	0.45486	0.555000	0.69702	AGC		0.617	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	
SPATA32	124783	broad.mit.edu	37	17	43332676	43332676	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:43332676A>C	ENST00000331780.4	-	4	968	c.873T>G	c.(871-873)aaT>aaG	p.N291K	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.N270K|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	291					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.N291K(1)									TCTCTGCGTGATTTTCTGGCT	0.537																																					p.N291K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T873G	17						.						134.0	123.0	127.0					17																	43332676		2203	4300	6503	40688459	SO:0001583	missense	124783	exon4			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.873T>G	17.37:g.43332676A>C	ENSP00000331532:p.Asn291Lys	Somatic		Capture	Illumina HiSeq	Phase_I	40688459	NM_152343	Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.324937	0.01309	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.39056	1.1;1.1	3.31	-3.05	0.05396	.	2.062060	0.02014	N	0.047259	T	0.10723	0.0262	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	10	0.06099	T	0.92	-8.9805	0.3414	0.00334	0.3393:0.2724:0.1652:0.2231	.	291	Q96LK8	CQ046_HUMAN	K	291;270	ENSP00000331532:N291K;ENSP00000442724:N270K	ENSP00000331532:N291K	N	-	3	2	C17orf46	40688459	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.202000	0.03023	-0.322000	0.08615	-0.233000	0.12211	AAT		0.537	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343	
MAP3K14	9020	broad.mit.edu	37	17	43363977	43363977	+	RNA	SNP	G	G	A	rs370661357		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:43363977G>A	ENST00000344686.2	-	0	1078							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.R325C(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGCACCACGAGACAGGCAG	0.607																																					p.L324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C972T	17						.	G	CYS/ARG	0,3926		0,0,1963	21.0	21.0	21.0		972	3.4	0.0	17		21	1,8311		0,1,4155	no	missense	MAP3K14	NM_003954.3	180	0,1,6118	AA,AG,GG		0.012,0.0,0.0082	benign	325/948	43363977	1,12237	1963	4156	6119	40719760			9020	exon5			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43363977G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40719760	NM_003954	A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37		.	.	.	.	.	.	.	.	.	.	g	3.562	-0.089430	0.07053	0.0	1.2E-4	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	4.33	3.37	0.38596	.	0.943818	0.08816	N	0.889576	T	0.33381	0.0861	N	0.19112	0.55	0.32248	N	0.5718179999999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	8	0.56958	D	0.05	.	7.9684	0.30113	0.1119:0.0:0.8881:0.0	.	325	Q99558	M3K14_HUMAN	C	324;108	.	ENSP00000342059:R324C	R	-	1	0	MAP3K14	40719760	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	1.869000	0.39519	1.053000	0.40415	0.552000	0.68991	CGT		0.607	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954	
UBE2G1	7326	broad.mit.edu	37	17	4186189	4186189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4186189C>A	ENST00000396981.2	-	5	619	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	UBE2G1_ENST00000572484.1_Nonsense_Mutation_p.E81*	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	152					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.E152*(1)		large_intestine(2)|lung(4)|skin(1)	7						CTTTTAAATTCTCCATTTCTA	0.323																																					p.E152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G454T	17						.						91.0	85.0	87.0					17																	4186189		2202	4297	6499	4132938	SO:0001587	stop_gained	7326	exon5			BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.454G>T	17.37:g.4186189C>A	ENSP00000380178:p.Glu152*	Somatic		Capture	Illumina HiSeq	Phase_I	4132938	NM_003342	B2R7P2|D3DTK0|Q99462	Nonsense_Mutation	SNP	ENST00000396981.2	37	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412765	0.83340	.	.	ENSG00000132388	ENST00000396981	.	.	.	5.96	5.96	0.96718	.	0.045264	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.3876	19.4101	0.94667	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000380178:E152X	E	-	1	0	UBE2G1	4132938	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.477000	0.81069	2.832000	0.97577	0.655000	0.94253	GAA		0.323	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342	
SPPL2C	162540	broad.mit.edu	37	17	43923124	43923124	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:43923124C>A	ENST00000329196.5	+	1	869	c.852C>A	c.(850-852)atC>atA	p.I284I	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	284						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.I284I(1)									CCATTGGGATCTTTGGCCTGG	0.607																																					p.I284I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852A	17						.						127.0	124.0	125.0					17																	43923124		2203	4300	6503	41278904	SO:0001819	synonymous_variant	162540	exon1				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.852C>A	17.37:g.43923124C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41278904	NM_175882	Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.607	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882	
MAPT	4137	broad.mit.edu	37	17	44061159	44061159	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:44061159C>T	ENST00000571987.1	+	5	989	c.989C>T	c.(988-990)gCc>gTc	p.A330V	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A330V|MAPT_ENST00000344290.5_Missense_Mutation_p.A330V|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A330V|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	330					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.A330V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TTTCCAGGGGCCCCTGGAGAG	0.627																																					p.A330V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C989T	17						.						25.0	33.0	30.0					17																	44061159		2184	4275	6459	41416996	SO:0001583	missense	4137	exon6			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.989C>T	17.37:g.44061159C>T	ENSP00000458742:p.Ala330Val	Somatic		Capture	Illumina HiSeq	Phase_I	41416996	NM_001123066	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915690	0.17907	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.11063	2.83;2.81;2.83	4.87	-3.15	0.05233	.	1.329680	0.05359	N	0.533295	T	0.09291	0.0229	L	0.50333	1.59	0.09310	N	0.999996	P;B	0.35272	0.493;0.001	B;B	0.33620	0.167;0.002	T	0.31280	-0.9949	10	0.34782	T	0.22	0.0426	3.836	0.08894	0.1135:0.2031:0.501:0.1824	.	330;330	P10636-9;P10636	.;TAU_HUMAN	V	330	ENSP00000340820:A330V;ENSP00000262410:A330V;ENSP00000410838:A330V	ENSP00000262410:A330V	A	+	2	0	MAPT	41416996	0.000000	0.05858	0.074000	0.20217	0.056000	0.15407	-1.098000	0.03346	-0.629000	0.05575	0.561000	0.74099	GCC		0.627	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
LRRC37A2	474170	broad.mit.edu	37	17	44626185	44626185	+	Missense_Mutation	SNP	C	C	T	rs372793996		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:44626185C>T	ENST00000576629.1	+	10	4175	c.3680C>T	c.(3679-3681)gCg>gTg	p.A1227V	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.A1227V|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1227						integral component of membrane (GO:0016021)		p.A1227V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAGAAGTTAGCGGGAAACGCC	0.592																																					p.A1227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3680T	17						.	C	,VAL/ALA	1,4367	2.1+/-5.4	0,1,2183	54.0	94.0	81.0		,3680	-0.2	0.0	17		81	0,8600		0,0,4300	no	intron,missense	ARL17A,LRRC37A2	NM_016632.2,NM_001006607.2	,64	0,1,6483	TT,TC,CC		0.0,0.0229,0.0077	,benign	,1227/1701	44626185	1,12967	2184	4300	6484	41981501	SO:0001583	missense	474170	exon9			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3680C>T	17.37:g.44626185C>T	ENSP00000459551:p.Ala1227Val	Somatic		Capture	Illumina HiSeq	Phase_I	41981501	NM_001006607	B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	c	2.643	-0.283616	0.05642	2.29E-4	0.0	ENSG00000238083	ENST00000333412	T	0.54279	0.58	2.4	-0.174	0.13319	.	.	.	.	.	T	0.09862	0.0242	N	0.00095	-2.16	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.35943	-0.9768	9	0.02654	T	1	.	2.8556	0.05571	0.0:0.1583:0.2642:0.5775	.	1227;188;1227	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	V	1227	ENSP00000333071:A1227V	ENSP00000333071:A1227V	A	+	2	0	LRRC37A2	41981501	0.148000	0.22702	0.011000	0.14972	0.040000	0.13550	0.031000	0.13710	-0.037000	0.13646	-1.176000	0.01726	GCG		0.592	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607	
WNT3	7473	broad.mit.edu	37	17	44845962	44845962	+	Silent	SNP	C	C	T	rs374511226		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:44845962C>T	ENST00000225512.5	-	4	954	c.792G>A	c.(790-792)tcG>tcA	p.S264S		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	264					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.S264S(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTGAAGAGCGAGTACTTGG	0.587																																					p.S264S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G792A	17						.	C		1,4405	2.1+/-5.4	0,1,2202	94.0	97.0	96.0		792	-3.7	0.8	17		96	0,8600		0,0,4300	no	coding-synonymous	WNT3	NM_030753.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		264/356	44845962	1,13005	2203	4300	6503	42201131	SO:0001819	synonymous_variant	7473	exon4			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.792G>A	17.37:g.44845962C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42201131	NM_030753	Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	CCDS11505.1																																																																																				0.587	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753	
CDC27	996	broad.mit.edu	37	17	45199858	45199858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45199858G>A	ENST00000066544.3	-	18	2437	c.2344C>T	c.(2344-2346)Cgt>Tgt	p.R782C	CDC27_ENST00000527547.1_Missense_Mutation_p.R781C|CDC27_ENST00000531206.1_Missense_Mutation_p.R788C|CDC27_ENST00000446365.2_Missense_Mutation_p.R721C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	782					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.R788C(1)|p.R782C(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGATAACGCTTATCAATT	0.378																																					p.R788C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2362T	17						.						169.0	153.0	159.0					17																	45199858		2203	4300	6503	42554857	SO:0001583	missense	996	exon18			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2344C>T	17.37:g.45199858G>A	ENSP00000066544:p.Arg782Cys	Somatic		Capture	Illumina HiSeq	Phase_I	42554857	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663130	0.88251	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.68331	-0.31;-0.32;-0.04;-0.31	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;P	0.64410	0.854;0.925;0.925;0.854	T	0.68720	-0.5334	10	0.38643	T	0.18	-14.4595	17.0425	0.86493	0.0:0.0:1.0:0.0	.	721;781;788;782	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	782;788;721;781	ENSP00000066544:R782C;ENSP00000434614:R788C;ENSP00000392802:R721C;ENSP00000437339:R781C	ENSP00000066544:R782C	R	-	1	0	CDC27	42554857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.175000	0.71949	2.885000	0.99019	0.655000	0.94253	CGT		0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	broad.mit.edu	37	17	45201281	45201281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45201281C>A	ENST00000066544.3	-	17	2299	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.E735*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.E742*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.E675*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.E736*(2)|p.E742*(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACGAGGGATTCTTTGGGAACA	0.318																																					p.E742X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G2224T	17						.						61.0	63.0	62.0					17																	45201281		2203	4300	6503	42556280	SO:0001587	stop_gained	996	exon17			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2206G>T	17.37:g.45201281C>A	ENSP00000066544:p.Glu736*	Somatic		Capture	Illumina HiSeq	Phase_I	42556280	NM_001114091	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	41	9.133443	0.99077	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	2.1357	16.524	0.84326	0.0:1.0:0.0:0.0	.	.	.	.	X	736;742;675;735	.	ENSP00000066544:E736X	E	-	1	0	CDC27	42556280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.497000	0.84241	0.557000	0.71058	GAA		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ITGB3	3690	broad.mit.edu	37	17	45361914	45361914	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45361914G>T	ENST00000559488.1	+	4	483	c.467G>T	c.(466-468)aGc>aTc	p.S156I	ITGB3_ENST00000435993.2_Missense_Mutation_p.S109I|ITGB3_ENST00000571680.1_Missense_Mutation_p.S156I|ITGB3_ENST00000560629.1_Missense_Mutation_p.E144D	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	156	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.S156I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GATCTGTGGAGCATCCAGAAC	0.527																																					p.S156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467T	17						.						113.0	104.0	107.0					17																	45361914		2203	4300	6503	42716913	SO:0001583	missense	3690	exon4				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.467G>T	17.37:g.45361914G>T	ENSP00000452786:p.Ser156Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42716913	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087019	0.36855	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92699	-3.09	5.86	2.52	0.30459	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.413784	0.32687	N	0.005775	D	0.88923	0.6569	L	0.33485	1.01	0.31632	N	0.648974	P;P	0.43519	0.653;0.809	B;P	0.50570	0.255;0.644	D	0.87250	0.2272	10	0.72032	D	0.01	.	5.6969	0.17861	0.4299:0.0:0.5701:0.0	.	156;156	P05106;Q2YFE1	ITB3_HUMAN;.	I	156;109	ENSP00000407801:S109I	ENSP00000262017:S156I	S	+	2	0	C17orf57	42716913	0.979000	0.34478	0.991000	0.47740	0.069000	0.16628	1.133000	0.31430	0.833000	0.34828	-0.140000	0.14226	AGC		0.527	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
ITGB3	3690	broad.mit.edu	37	17	45367134	45367134	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45367134C>A	ENST00000559488.1	+	7	1043	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I	ITGB3_ENST00000435993.2_Missense_Mutation_p.L296I|ITGB3_ENST00000571680.1_Missense_Mutation_p.L343I|ITGB3_ENST00000560629.1_Missense_Mutation_p.S331Y	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	343	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.L343I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGTAGTCAATCTCTATCAGGT	0.488																																					p.L343I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1027A	17						.						125.0	111.0	116.0					17																	45367134		2203	4300	6503	42722133	SO:0001583	missense	3690	exon7				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1027C>A	17.37:g.45367134C>A	ENSP00000452786:p.Leu343Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42722133	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839222	0.71373	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92805	-3.11	5.3	5.3	0.74995	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	L	0.39147	1.195	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.987;0.996	D	0.93623	0.6949	10	0.41790	T	0.15	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	343;343	P05106;Q2YFE1	ITB3_HUMAN;.	I	343;296	ENSP00000407801:L296I	ENSP00000262017:L343I	L	+	1	0	C17orf57	42722133	0.999000	0.42202	0.958000	0.39756	0.984000	0.73092	4.290000	0.59019	2.485000	0.83878	0.462000	0.41574	CTC		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
ITGB3	3690	broad.mit.edu	37	17	45384962	45384962	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45384962G>A	ENST00000559488.1	+	14	2276	c.2260G>A	c.(2260-2262)Gct>Act	p.A754T	RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Missense_Mutation_p.A707T|ITGB3_ENST00000560629.1_Missense_Mutation_p.R742H|RP11-290H9.4_ENST00000576345.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	754					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.A754T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	AAAAGAATTCGCTAAATTTGA	0.522																																					p.A754T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2260A	17						.						68.0	54.0	59.0					17																	45384962		2203	4300	6503	42739961	SO:0001583	missense	3690	exon14				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2260G>A	17.37:g.45384962G>A	ENSP00000452786:p.Ala754Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42739961	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582750	0.96578	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.90261	-2.64	5.47	5.47	0.80525	Integrin beta subunit, cytoplasmic (2);	0.048027	0.85682	D	0.000000	D	0.96497	0.8857	H	0.94925	3.6	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	D	0.97308	0.9935	10	0.87932	D	0	.	18.4681	0.90762	0.0:0.0:1.0:0.0	.	754	P05106	ITB3_HUMAN	T	754;707	ENSP00000407801:A707T	ENSP00000262017:A754T	A	+	1	0	C17orf57	42739961	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.878000	0.87231	2.720000	0.93068	0.557000	0.71058	GCT		0.522	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
ITGB3	3690	broad.mit.edu	37	17	45387512	45387512	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45387512A>G	ENST00000559488.1	+	15	2325	c.2309A>G	c.(2308-2310)aAc>aGc	p.N770S	RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Intron|ITGB3_ENST00000560629.1_Intron	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	770					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.N770S(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAGGCCAACAACCCACTGTAT	0.453																																					p.N770S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2309G	17						.						186.0	144.0	158.0					17																	45387512		2203	4300	6503	42742511	SO:0001583	missense	3690	exon15				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2309A>G	17.37:g.45387512A>G	ENSP00000452786:p.Asn770Ser	Somatic		Capture	Illumina HiSeq	Phase_I	42742511	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891805	0.91889	.	.	ENSG00000178852	ENST00000262017	.	.	.	6.05	6.05	0.98169	Integrin beta subunit, cytoplasmic (2);	0.000000	0.85682	D	0.000000	D	0.86422	0.5929	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89767	0.3951	9	0.87932	D	0	.	15.5757	0.76380	1.0:0.0:0.0:0.0	.	770	P05106	ITB3_HUMAN	S	770	.	ENSP00000262017:N770S	N	+	2	0	C17orf57	42742511	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.455000	0.90355	2.320000	0.78422	0.528000	0.53228	AAC		0.453	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
EFCAB13	124989	broad.mit.edu	37	17	45421657	45421657	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45421657C>T	ENST00000331493.2	+	7	844	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Splice_Site_p.R145W|ITGB3_ENST00000560629.1_3'UTR	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	145						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R145W(1)									TGCAATTACTCGGTATTTAAA	0.373																																					p.R145W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433T	17						.						183.0	174.0	177.0					17																	45421657		2203	4300	6503	42776656	SO:0001630	splice_region_variant	124989	exon7			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.434+1C>T	17.37:g.45421657C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42776656	NM_001195192	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283260	0.40394	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;D	0.81579	-0.95;-1.51	3.06	-6.12	0.02124	.	0.858235	0.09858	N	0.746679	T	0.70150	0.3191	L	0.56769	1.78	0.09310	N	0.999999	B;B;B	0.18310	0.027;0.022;0.022	B;B;B	0.13407	0.009;0.005;0.005	T	0.56129	-0.8030	10	0.72032	D	0.01	-3.569	4.6092	0.12392	0.1153:0.1489:0.5397:0.1961	.	145;145;145	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	W	145	ENSP00000332111:R145W;ENSP00000430048:R145W	ENSP00000332111:R145W	R	+	1	2	C17orf57	42776656	0.002000	0.14202	0.003000	0.11579	0.016000	0.09150	-1.741000	0.01837	-1.926000	0.01061	-0.350000	0.07774	CGG		0.373	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	Missense_Mutation
EFCAB13	124989	broad.mit.edu	37	17	45422399	45422399	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45422399C>A	ENST00000331493.2	+	8	863	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	EFCAB13_ENST00000517484.1_Missense_Mutation_p.S151Y	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S151Y(1)									GAAATGCTGTCTAACCTCTAC	0.299																																					p.S151Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452A	17						.						103.0	110.0	108.0					17																	45422399		2203	4299	6502	42777398	SO:0001583	missense	124989	exon8			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.452C>A	17.37:g.45422399C>A	ENSP00000332111:p.Ser151Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42777398	NM_001195192	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216760	0.39201	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.79352	-0.44;-1.26	4.05	4.05	0.47172	.	0.341407	0.21782	N	0.069188	D	0.84795	0.5551	M	0.61703	1.905	0.22842	N	0.998669	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.973;0.973	T	0.76307	-0.3007	10	0.87932	D	0	-12.0167	12.0714	0.53618	0.0:1.0:0.0:0.0	.	151;151;151	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Y	151	ENSP00000332111:S151Y;ENSP00000430048:S151Y	ENSP00000332111:S151Y	S	+	2	0	C17orf57	42777398	0.986000	0.35501	0.944000	0.38274	0.085000	0.17905	1.005000	0.29834	1.960000	0.56953	0.484000	0.47621	TCT		0.299	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
OSBPL7	114881	broad.mit.edu	37	17	45886771	45886771	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:45886771C>T	ENST00000007414.3	-	19	2145	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	OSBPL7_ENST00000392507.3_Missense_Mutation_p.E652K	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	652					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.E652K(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAGTGCTCGATCCAGCGC	0.547																																					p.E652K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1954A	17						.						142.0	99.0	114.0					17																	45886771		2203	4300	6503	43241770	SO:0001583	missense	114881	exon19			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1954G>A	17.37:g.45886771C>T	ENSP00000007414:p.Glu652Lys	Somatic		Capture	Illumina HiSeq	Phase_I	43241770	NM_145798	D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036389	0.93630	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.46451	0.87;0.87	4.91	4.91	0.64330	.	0.155509	0.56097	D	0.000028	T	0.67325	0.2881	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73164	-0.4069	10	0.87932	D	0	-30.8738	16.8789	0.86058	0.0:1.0:0.0:0.0	.	652	Q9BZF2	OSBL7_HUMAN	K	652	ENSP00000007414:E652K;ENSP00000376295:E652K	ENSP00000007414:E652K	E	-	1	0	OSBPL7	43241770	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.756000	0.85195	2.271000	0.75665	0.561000	0.74099	GAG		0.547	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731	
SPNS2	124976	broad.mit.edu	37	17	4434030	4434030	+	Missense_Mutation	SNP	C	C	T	rs202089427	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4434030C>T	ENST00000329078.3	+	4	887	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	226					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)	p.T226M(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACCAAGAACACGCGTACGCTC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		18654	0.002		0.0	False		,,,				2504	0.0				p.T226M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677T	17						.						68.0	60.0	63.0					17																	4434030		1568	3582	5150	4380779	SO:0001583	missense	124976	exon4			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.677C>T	17.37:g.4434030C>T	ENSP00000333292:p.Thr226Met	Somatic		Capture	Illumina HiSeq	Phase_I	4380779	NM_001124758	B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.28	1.593616	0.28445	.	.	ENSG00000183018	ENST00000329078	T	0.58060	0.36	3.92	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.648303	0.15375	N	0.265607	T	0.28532	0.0706	N	0.04162	-0.26	0.32976	D	0.522982	B	0.31680	0.335	B	0.30179	0.112	T	0.40232	-0.9574	10	0.34782	T	0.22	.	11.5814	0.50894	0.1792:0.8208:0.0:0.0	.	226	Q8IVW8	SPNS2_HUMAN	M	226	ENSP00000333292:T226M	ENSP00000333292:T226M	T	+	2	0	SPNS2	4380779	0.924000	0.31332	0.959000	0.39883	0.829000	0.46940	1.138000	0.31491	2.130000	0.65690	0.561000	0.74099	ACG		0.622	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1		
CDK5RAP3	80279	broad.mit.edu	37	17	46052565	46052565	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:46052565G>T	ENST00000338399.4	+	6	481	c.375G>T	c.(373-375)gaG>gaT	p.E125D	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.E150D	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	125					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.E125D(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCAACTATGAGATCCCCTCAC	0.587																																					p.E125D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G375T	17						.						91.0	90.0	91.0					17																	46052565		2005	4184	6189	43407564	SO:0001583	missense	80279	exon6			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.375G>T	17.37:g.46052565G>T	ENSP00000344683:p.Glu125Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43407564	NM_176096	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757123	0.89843	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.57107	0.42;0.42	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74725	-0.3568	10	0.32370	T	0.25	-27.6642	18.0919	0.89478	0.0:0.0:1.0:0.0	.	38;125	Q96JB5-2;Q96JB5	.;CK5P3_HUMAN	D	150;125	ENSP00000438886:E150D;ENSP00000344683:E125D	ENSP00000344683:E125D	E	+	3	2	CDK5RAP3	43407564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.873000	0.69644	2.588000	0.87417	0.655000	0.94253	GAG		0.587	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	
TTLL6	284076	broad.mit.edu	37	17	46847378	46847378	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:46847378T>C	ENST00000393382.3	-	14	2263	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	TTLL6_ENST00000433608.2_Missense_Mutation_p.T401A	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.T386A(1)|p.T660A(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAGCTGGCGGTCACAGCCAGG	0.522																																					p.T708A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2122G	17						.						66.0	71.0	70.0					17																	46847378		2203	4300	6503	44202377	SO:0001583	missense	284076	exon14			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2122A>G	17.37:g.46847378T>C	ENSP00000377043:p.Thr708Ala	Somatic		Capture	Illumina HiSeq	Phase_I	44202377	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744485	0.30865	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.15372	2.43	4.22	-5.91	0.02269	.	750.597000	0.00166	N	0.000000	T	0.16214	0.0390	L	0.56769	1.78	0.09310	N	1	B;P	0.37955	0.278;0.612	B;B	0.39503	0.084;0.301	T	0.26916	-1.0089	10	0.22706	T	0.39	.	4.6135	0.12415	0.5126:0.2809:0.0:0.2065	.	660;401	Q8N841;G5E937	TTLL6_HUMAN;.	A	708;401;386;660	ENSP00000399211:T386A	ENSP00000302547:T401A	T	-	1	0	TTLL6	44202377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.137000	0.10389	-0.898000	0.03906	-0.438000	0.05819	ACC		0.522	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
DLX4	1748	broad.mit.edu	37	17	48051123	48051123	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48051123C>A	ENST00000240306.3	+	3	834	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	DLX4_ENST00000411890.2_Missense_Mutation_p.S108Y	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	180					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S180Y(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AAGCAGAATTCTGGGGGGCAG	0.547																																					p.S108Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323A	17						.						98.0	114.0	108.0					17																	48051123		2203	4300	6503	45406122	SO:0001583	missense	1748	exon2				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.539C>A	17.37:g.48051123C>A	ENSP00000240306:p.Ser180Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	45406122	NM_001934	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844530	0.71488	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.92858	-2.91;-3.12	5.41	4.44	0.53790	Homeodomain-like (1);	.	.	.	.	D	0.94981	0.8376	M	0.75615	2.305	0.39490	D	0.96803	D;P	0.71674	0.998;0.899	D;P	0.69479	0.964;0.594	D	0.95414	0.8501	9	0.62326	D	0.03	-12.8505	11.8508	0.52410	0.0:0.916:0.0:0.084	.	108;180	Q92988-2;Q92988	.;DLX4_HUMAN	Y	180;108	ENSP00000240306:S180Y;ENSP00000410622:S108Y	ENSP00000240306:S180Y	S	+	2	0	DLX4	45406122	1.000000	0.71417	0.985000	0.45067	0.907000	0.53573	1.856000	0.39389	1.513000	0.48852	0.561000	0.74099	TCT		0.547	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1		
DLX4	1748	broad.mit.edu	37	17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T	rs202154782		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48051291C>T	ENST00000240306.3	+	3	1002	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_ENST00000411890.2_Missense_Mutation_p.S164L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	236					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S236L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17706	0.0		0.0	False		,,,				2504	0.0				p.S164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	17						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	40.0	40.0	40.0		491,707	-0.6	0.0	17		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DLX4	NM_001934.2,NM_138281.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	164/169,236/241	48051291	1,13005	2203	4300	6503	45406290	SO:0001583	missense	1748	exon2				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.707C>T	17.37:g.48051291C>T	ENSP00000240306:p.Ser236Leu	Somatic		Capture	Illumina HiSeq	Phase_I	45406290	NM_001934	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	CCDS11555.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.774	1.173571	0.21704	0.0	1.16E-4	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.91894	-2.68;-2.93	4.84	-0.608	0.11611	.	.	.	.	.	T	0.75213	0.3819	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.65022	-0.6269	9	0.41790	T	0.15	2.7864	8.3794	0.32461	0.0:0.4325:0.0:0.5675	.	164;236	Q92988-2;Q92988	.;DLX4_HUMAN	L	236;164	ENSP00000240306:S236L;ENSP00000410622:S164L	ENSP00000240306:S236L	S	+	2	0	DLX4	45406290	0.012000	0.17670	0.001000	0.08648	0.827000	0.46813	1.282000	0.33226	-0.228000	0.09869	0.561000	0.74099	TCG		0.617	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1		
DLX3	1747	broad.mit.edu	37	17	48069206	48069206	+	Missense_Mutation	SNP	C	C	T	rs141606294		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48069206C>T	ENST00000434704.2	-	3	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	DLX3_ENST00000512495.2_Missense_Mutation_p.R60H	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	180					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R180H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTTGGAACGGCGGTTCTGGAA	0.512																																					p.R180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	17						.						84.0	82.0	83.0					17																	48069206		2203	4300	6503	45424205	SO:0001583	missense	1747	exon3				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.539G>A	17.37:g.48069206C>T	ENSP00000389870:p.Arg180His	Somatic		Capture	Illumina HiSeq	Phase_I	45424205	NM_005220	B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766140	0.69878	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.97553	-4.43;-4.42	4.38	4.38	0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98435	1.0584	10	0.56958	D	0.05	-21.9907	8.129	0.31016	0.0:0.8932:0.0:0.1068	.	180	O60479	DLX3_HUMAN	H	180;60	ENSP00000389870:R180H;ENSP00000449976:R60H	ENSP00000389870:R180H	R	-	2	0	DLX3	45424205	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.949000	0.56668	2.280000	0.76307	0.561000	0.74099	CGC		0.512	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1		
SAMD14	201191	broad.mit.edu	37	17	48191564	48191564	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48191564T>G	ENST00000330175.4	-	8	1246	c.929A>C	c.(928-930)cAg>cCg	p.Q310P	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.Q338P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	310								p.Q338P(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ATCTGAAGACTGAGACAGCGT	0.622																																					p.Q338P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1013C	17						.						69.0	67.0	68.0					17																	48191564		2203	4300	6503	45546563	SO:0001583	missense	201191	exon9				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.929A>C	17.37:g.48191564T>G	ENSP00000329144:p.Gln310Pro	Somatic		Capture	Illumina HiSeq	Phase_I	45546563	NM_174920	A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.312178	0.60414	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.11	5.11	0.69529	.	0.000000	0.56097	D	0.000028	T	0.59838	0.2223	L	0.44542	1.39	0.42303	D	0.992183	P;P	0.46706	0.875;0.883	B;P	0.51945	0.36;0.685	T	0.59451	-0.7452	9	0.37606	T	0.19	-12.8437	12.4426	0.55634	0.0:0.0:0.0:1.0	.	310;338	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	P	310;322;338	.	ENSP00000285206:Q322P	Q	-	2	0	SAMD14	45546563	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	2.722000	0.47269	1.928000	0.55862	0.379000	0.24179	CAG		0.622	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920	
MRPL27	51264	broad.mit.edu	37	17	48445516	48445516	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48445516C>A	ENST00000225969.4	-	4	427	c.384G>T	c.(382-384)aaG>aaT	p.K128N	MRPL27_ENST00000503633.1_3'UTR|MRPL27_ENST00000442592.3_3'UTR|MRPL27_ENST00000511860.1_Missense_Mutation_p.K73N|MRPL27_ENST00000507088.1_Missense_Mutation_p.K73N	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	128					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K128N(1)		endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GGACAAAAGTCTTGTAGAGCA	0.552																																					p.K128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	17						.						163.0	121.0	136.0					17																	48445516		2203	4300	6503	45800515	SO:0001583	missense	51264	exon4			AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.384G>T	17.37:g.48445516C>A	ENSP00000225969:p.Lys128Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45800515	NM_016504	B2RE14	Missense_Mutation	SNP	ENST00000225969.4	37	CCDS11564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.86|19.86	3.905081|3.905081	0.72868|0.72868	.|.	.|.	ENSG00000108826|ENSG00000108826	ENST00000508200|ENST00000507088;ENST00000225969;ENST00000511860	.|T	.|0.57595	.|0.39	5.93|5.93	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66086|0.66086	0.2754|0.2754	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74023	.|0.982	T|T	0.68432|0.68432	-0.5410|-0.5410	5|10	.|0.72032	.|D	.|0.01	-10.9074|-10.9074	7.0997|7.0997	0.25330|0.25330	0.0:0.7172:0.0:0.2828|0.0:0.7172:0.0:0.2828	.|.	.|128	.|Q9P0M9	.|RM27_HUMAN	Y|N	116|73;128;73	.|ENSP00000225969:K128N	.|ENSP00000225969:K128N	D|K	-|-	1|3	0|2	MRPL27|MRPL27	45800515|45800515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	1.722000|1.722000	0.38042|0.38042	1.497000|1.497000	0.48584|0.48584	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.552	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1		
LRRC59	55379	broad.mit.edu	37	17	48465472	48465472	+	Missense_Mutation	SNP	C	C	T	rs200977500	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48465472C>T	ENST00000225972.7	-	5	686	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	151						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V151M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCTGCCTGCACGGCCTTCATG	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		21566	0.0		0.002	False		,,,				2504	0.0				p.V151M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	17						.	C	MET/VAL	0,4406		0,0,2203	150.0	133.0	139.0		451	2.0	0.2	17		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC59	NM_018509.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	151/308	48465472	1,13005	2203	4300	6503	45820471	SO:0001583	missense	55379	exon5			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.451G>A	17.37:g.48465472C>T	ENSP00000225972:p.Val151Met	Somatic		Capture	Illumina HiSeq	Phase_I	45820471	NM_018509	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.69	2.909012	0.52439	0.0	1.16E-4	ENSG00000108829	ENST00000225972	T	0.46451	0.87	6.08	1.97	0.26223	.	0.331298	0.36591	N	0.002520	T	0.38054	0.1026	M	0.61703	1.905	0.46823	D	0.999213	B	0.16166	0.016	B	0.12156	0.007	T	0.23547	-1.0185	10	0.66056	D	0.02	.	9.4021	0.38440	0.0:0.597:0.0:0.403	.	151	Q96AG4	LRC59_HUMAN	M	151	ENSP00000225972:V151M	ENSP00000225972:V151M	V	-	1	0	LRRC59	45820471	0.072000	0.21174	0.185000	0.23176	0.962000	0.63368	0.364000	0.20325	0.174000	0.19809	-0.768000	0.03414	GTG		0.507	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509	
CHAD	1101	broad.mit.edu	37	17	48543229	48543229	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48543229G>T	ENST00000508540.1	-	2	929	c.777C>A	c.(775-777)ttC>ttA	p.F259L	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.F259L|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	259					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.F259L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CACCATCTGAGAACTGgggag	0.567																																					p.F259L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C777A	17						.						128.0	108.0	115.0					17																	48543229		2203	4300	6503	45898228	SO:0001583	missense	1101	exon2			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.777C>A	17.37:g.48543229G>T	ENSP00000423812:p.Phe259Leu	Somatic		Capture	Illumina HiSeq	Phase_I	45898228	NM_001267	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439593	0.63067	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.03094	4.05;4.05	4.97	-0.484	0.12071	.	0.270726	0.42682	N	0.000666	T	0.00906	0.0030	N	0.00254	-1.765	0.52099	D	0.999949	B	0.06786	0.001	B	0.04013	0.001	T	0.53479	-0.8433	10	0.34782	T	0.22	.	5.5658	0.17170	0.539:0.1525:0.3085:0.0	.	259	O15335	CHAD_HUMAN	L	259	ENSP00000423812:F259L;ENSP00000258969:F259L	ENSP00000258969:F259L	F	-	3	2	CHAD	45898228	0.996000	0.38824	0.712000	0.30502	0.924000	0.55760	0.349000	0.20055	-0.176000	0.10707	-0.150000	0.13652	TTC		0.567	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267	
MYCBPAP	84073	broad.mit.edu	37	17	48600990	48600990	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48600990A>G	ENST00000323776.5	+	12	1771	c.1609A>G	c.(1609-1611)Acc>Gcc	p.T537A	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T500A	NM_032133.4	NP_115509.4			MYCBP associated protein									p.T500A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TAAAACATTTACCTTCTTCTT	0.488																																					p.T537A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1609G	17						.						103.0	107.0	105.0					17																	48600990		2203	4300	6503	45955989	SO:0001583	missense	84073	exon12			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1609A>G	17.37:g.48600990A>G	ENSP00000323184:p.Thr537Ala	Somatic		Capture	Illumina HiSeq	Phase_I	45955989	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	4.272	0.049626	0.08243	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.44083	0.93;0.93	5.44	1.67	0.24075	.	0.530450	0.21210	N	0.078322	T	0.33933	0.0880	M	0.72479	2.2	0.28087	N	0.931946	B	0.32467	0.372	B	0.30855	0.121	T	0.18745	-1.0327	10	0.15499	T	0.54	-11.4826	6.0109	0.19575	0.3552:0.3378:0.0:0.307	.	500	Q8TBZ2	MYBPP_HUMAN	A	537;500	ENSP00000323184:T537A;ENSP00000397209:T500A	ENSP00000323184:T537A	T	+	1	0	MYCBPAP	45955989	0.365000	0.25006	0.946000	0.38457	0.485000	0.33311	0.977000	0.29475	0.417000	0.25871	-0.333000	0.08304	ACC		0.488	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
GLTPD2	388323	broad.mit.edu	37	17	4692834	4692834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4692834C>T	ENST00000331264.7	+	3	253	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	67						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.A67V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						ACCCTGGAGGCCCCGGAGAGG	0.627																																					p.A67V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200T	17						.						40.0	50.0	47.0					17																	4692834		2201	4297	6498	4639574	SO:0001583	missense	388323	exon3			BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.200C>T	17.37:g.4692834C>T	ENSP00000328070:p.Ala67Val	Somatic		Capture	Illumina HiSeq	Phase_I	4639574	NM_001014985	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272325	0.23221	.	.	ENSG00000182327	ENST00000331264	.	.	.	3.95	-1.59	0.08453	.	1.035070	0.07660	N	0.933446	T	0.20618	0.0496	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25398	-1.0133	9	0.19590	T	0.45	-16.0355	7.2691	0.26246	0.0:0.3852:0.0:0.6148	.	67	A6NH11	GLTD2_HUMAN	V	67	.	ENSP00000328070:A67V	A	+	2	0	GLTPD2	4639574	0.000000	0.05858	0.050000	0.19076	0.005000	0.04900	-1.538000	0.02204	-0.130000	0.11599	0.561000	0.74099	GCC		0.627	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985	
WFIKKN2	124857	broad.mit.edu	37	17	48917024	48917024	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:48917024C>A	ENST00000311378.4	+	2	903	c.375C>A	c.(373-375)atC>atA	p.I125I	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.I32I	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	125					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I125I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGTGTGACATCTGGGATGGCC	0.582																																					p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375A	17						.						85.0	78.0	80.0					17																	48917024		2203	4300	6503	46272023	SO:0001819	synonymous_variant	124857	exon2			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.375C>A	17.37:g.48917024C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46272023	NM_175575	Q6UXZ9	Silent	SNP	ENST00000311378.4	37	CCDS11575.1																																																																																				0.582	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575	
PLD2	5338	broad.mit.edu	37	17	4721852	4721852	+	Silent	SNP	C	C	A	rs368220284		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4721852C>A	ENST00000263088.6	+	20	2204	c.2073C>A	c.(2071-2073)atC>atA	p.I691I	PLD2_ENST00000572940.1_Silent_p.I691I	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	691	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.I691I(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGGGTGACATCTCCACGGGCG	0.622																																					p.I691I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2073A	17						.						120.0	118.0	119.0					17																	4721852		2203	4300	6503	4668818	SO:0001819	synonymous_variant	5338	exon20			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2073C>A	17.37:g.4721852C>A		Somatic		Capture	Illumina HiSeq	Phase_I	4668818	NM_002663	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																				0.622	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
ENO3	2027	broad.mit.edu	37	17	4856604	4856604	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4856604T>G	ENST00000323997.6	+	5	410	c.278T>G	c.(277-279)tTt>tGt	p.F93C	ENO3_ENST00000518175.1_Missense_Mutation_p.F93C|ENO3_ENST00000519584.1_Intron	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	93					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.F93C(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTTGACAAATTTATGATTGAG	0.502																																					p.F93C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278G	17						.						148.0	152.0	151.0					17																	4856604		2203	4300	6503	4797350	SO:0001583	missense	2027	exon5			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.278T>G	17.37:g.4856604T>G	ENSP00000324105:p.Phe93Cys	Somatic		Capture	Illumina HiSeq	Phase_I	4797350	NM_053013	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837624	0.91117	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000518175	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.86502	2.82	0.80722	D	1	P	0.35908	0.527	P	0.53689	0.732	T	0.63051	-0.6723	10	0.87932	D	0	-13.8082	13.8732	0.63634	0.0:0.0:0.0:1.0	.	93	D3DTL2	.	C	93	ENSP00000428502:F93C;ENSP00000430055:F93C;ENSP00000324105:F93C;ENSP00000428811:F93C;ENSP00000431087:F93C	ENSP00000324105:F93C	F	+	2	0	ENO3	4797350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.228000	0.72767	0.533000	0.62120	TTT		0.502	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		
CAMTA2	23125	broad.mit.edu	37	17	4883472	4883472	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4883472T>C	ENST00000348066.3	-	9	1268	c.1145A>G	c.(1144-1146)aAc>aGc	p.N382S	CAMTA2_ENST00000361571.5_Missense_Mutation_p.N381S|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.N384S|CAMTA2_ENST00000414043.3_Missense_Mutation_p.N405S|CAMTA2_ENST00000358183.4_Missense_Mutation_p.N382S|CAMTA2_ENST00000572543.1_Missense_Mutation_p.N387S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	382					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.N382S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGGGGCTGTTGAGAAAACG	0.607																																					p.N405S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1214G	17						.						33.0	37.0	35.0					17																	4883472		2201	4299	6500	4824196	SO:0001583	missense	23125	exon9			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1145A>G	17.37:g.4883472T>C	ENSP00000321813:p.Asn382Ser	Somatic		Capture	Illumina HiSeq	Phase_I	4824196	NM_001171167	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085715	0.76642	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000003	T	0.68238	0.2979	L	0.32530	0.975	0.38901	D	0.957315	D;D;D;D;D	0.61697	0.982;0.982;0.99;0.982;0.974	D;D;D;D;D	0.72982	0.952;0.952;0.979;0.952;0.969	T	0.73072	-0.4098	10	0.72032	D	0.01	-17.4485	11.9717	0.53067	0.0:0.0:0.0:1.0	.	358;405;384;382;381	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	S	405;384;381;382;382	ENSP00000412886:N405S;ENSP00000370712:N384S;ENSP00000354828:N381S;ENSP00000350910:N382S;ENSP00000321813:N382S	ENSP00000321813:N382S	N	-	2	0	CAMTA2	4824196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.204000	0.58460	1.934000	0.56057	0.533000	0.62120	AAC		0.607	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	
MBTD1	54799	broad.mit.edu	37	17	49284280	49284280	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:49284280G>A	ENST00000586178.1	-	7	916	c.573C>T	c.(571-573)gtC>gtT	p.V191V	MBTD1_ENST00000376381.2_Silent_p.V191V|MBTD1_ENST00000415868.1_Silent_p.V191V	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	191					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V27V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAATCCAGAAGACTTTGGTAG	0.398																																					p.V191V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	17						.						126.0	123.0	124.0					17																	49284280		2203	4300	6503	46639279	SO:0001819	synonymous_variant	54799	exon7			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.573C>T	17.37:g.49284280G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46639279	NM_017643	Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	CCDS11581.2																																																																																				0.398	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1		
KIF2B	84643	broad.mit.edu	37	17	51900744	51900744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:51900744C>T	ENST00000268919.4	+	1	506	c.350C>T	c.(349-351)gCg>gTg	p.A117V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A117V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATGGGTTGCGATGATCCCC	0.602																																					p.A117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	17						.						73.0	77.0	75.0					17																	51900744		2203	4300	6503	49255743	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.350C>T	17.37:g.51900744C>T	ENSP00000268919:p.Ala117Val	Somatic		Capture	Illumina HiSeq	Phase_I	49255743	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.827	-0.746673	0.03065	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74209	-0.82	5.11	-1.72	0.08107	.	1.007100	0.08007	N	0.989662	T	0.46678	0.1405	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.26408	T	0.33	.	7.7679	0.28991	0.0:0.541:0.1099:0.349	.	117	Q8N4N8	KIF2B_HUMAN	V	117;40	ENSP00000268919:A117V	ENSP00000268919:A117V	A	+	2	0	KIF2B	49255743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.277000	0.18734	-0.292000	0.08999	-1.799000	0.00621	GCG		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
KIF2B	84643	broad.mit.edu	37	17	51900914	51900914	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:51900914C>T	ENST00000268919.4	+	1	676	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R174C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGAGCTAGACGCGCCCTCGA	0.542																																					p.R174C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	17						.						67.0	64.0	65.0					17																	51900914		2203	4300	6503	49255913	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.520C>T	17.37:g.51900914C>T	ENSP00000268919:p.Arg174Cys	Somatic		Capture	Illumina HiSeq	Phase_I	49255913	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605757	0.46527	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76709	-1.04	5.52	4.49	0.54785	.	0.161344	0.25166	N	0.032624	D	0.83422	0.5251	L	0.49126	1.545	0.39712	D	0.971346	D	0.89917	1.0	D	0.71414	0.973	D	0.84940	0.0865	10	0.87932	D	0	.	12.6969	0.57010	0.2193:0.7807:0.0:0.0	.	174	Q8N4N8	KIF2B_HUMAN	C	174;97	ENSP00000268919:R174C	ENSP00000268919:R174C	R	+	1	0	KIF2B	49255913	0.055000	0.20627	0.646000	0.29493	0.469000	0.32828	0.681000	0.25320	2.739000	0.93911	0.655000	0.94253	CGC		0.542	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ZFP3	124961	broad.mit.edu	37	17	4995060	4995060	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4995060G>T	ENST00000318833.3	+	2	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	87					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)	p.E87D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AAGACCGGGAGAATAATGAGA	0.473																																					p.E87D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G261T	17						.						53.0	54.0	54.0					17																	4995060		2203	4300	6503	4935784	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.261G>T	17.37:g.4995060G>T	ENSP00000320347:p.Glu87Asp	Somatic		Capture	Illumina HiSeq	Phase_I	4935784	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496579	0.26861	.	.	ENSG00000180787	ENST00000318833	T	0.10099	2.91	3.82	0.744	0.18353	.	0.254913	0.20437	N	0.092347	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	T	0.33624	-0.9861	10	0.59425	D	0.04	-6.5521	5.6756	0.17747	0.3481:0.0:0.6519:0.0	.	87	Q96NJ6	ZFP3_HUMAN	D	87	ENSP00000320347:E87D	ENSP00000320347:E87D	E	+	3	2	ZFP3	4935784	0.000000	0.05858	0.005000	0.12908	0.044000	0.14063	-0.070000	0.11523	0.218000	0.20820	0.563000	0.77884	GAG		0.473	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
ZFP3	124961	broad.mit.edu	37	17	4995411	4995411	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4995411G>T	ENST00000318833.3	+	2	948	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	204					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)	p.K204N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AATGTGGAAAGGCCTTCATTC	0.393																																					p.K204N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G612T	17						.						95.0	107.0	103.0					17																	4995411		2203	4300	6503	4936135	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.612G>T	17.37:g.4995411G>T	ENSP00000320347:p.Lys204Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4936135	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961771	0.53400	.	.	ENSG00000180787	ENST00000318833	T	0.07908	3.15	4.08	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34802	N	0.003669	T	0.32041	0.0816	M	0.93241	3.395	0.31752	N	0.634458	D	0.76494	0.999	D	0.74023	0.982	T	0.45687	-0.9244	10	0.72032	D	0.01	-19.8969	6.428	0.21780	0.2132:0.0:0.7868:0.0	.	204	Q96NJ6	ZFP3_HUMAN	N	204	ENSP00000320347:K204N	ENSP00000320347:K204N	K	+	3	2	ZFP3	4936135	0.192000	0.23301	1.000000	0.80357	0.993000	0.82548	0.598000	0.24074	1.325000	0.45301	0.557000	0.71058	AAG		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
ZFP3	124961	broad.mit.edu	37	17	4996138	4996138	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4996138A>G	ENST00000318833.3	+	2	1675	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	447					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)	p.K447E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TATTGGAGAGAAACCTTATGA	0.403																																					p.K447E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1339G	17						.						68.0	69.0	69.0					17																	4996138		2203	4300	6503	4936862	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1339A>G	17.37:g.4996138A>G	ENSP00000320347:p.Lys447Glu	Somatic		Capture	Illumina HiSeq	Phase_I	4936862	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482407	0.63962	.	.	ENSG00000180787	ENST00000318833	T	0.27104	1.69	3.9	3.9	0.45041	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001607	T	0.50257	0.1605	M	0.81942	2.565	0.30107	N	0.806914	D	0.61080	0.989	D	0.78314	0.991	T	0.54077	-0.8347	10	0.87932	D	0	-15.6023	11.3276	0.49458	1.0:0.0:0.0:0.0	.	447	Q96NJ6	ZFP3_HUMAN	E	447	ENSP00000320347:K447E	ENSP00000320347:K447E	K	+	1	0	ZFP3	4936862	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.961000	0.63681	1.999000	0.58509	0.533000	0.62120	AAA		0.403	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
KIF2B	84643	broad.mit.edu	37	17	51901921	51901921	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:51901921C>T	ENST00000268919.4	+	1	1683	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	509	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G509G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTTATAGGCCAGAACTCCT	0.463																																					p.G509G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1527T	17						.						59.0	57.0	57.0					17																	51901921		2203	4300	6503	49256920	SO:0001819	synonymous_variant	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1527C>T	17.37:g.51901921C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49256920	NM_032559	Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	CCDS32685.1																																																																																				0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
HLF	3131	broad.mit.edu	37	17	53345227	53345227	+	Silent	SNP	C	C	T	rs202162317		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:53345227C>T	ENST00000226067.5	+	2	704	c.231C>T	c.(229-231)gaC>gaT	p.D77D	HLF_ENST00000573945.1_5'UTR|HLF_ENST00000575345.1_5'UTR|HLF_ENST00000430986.2_5'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	77					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D77D(1)		large_intestine(1)|ovary(2)	3						TTCCCTATGACGGAGATACTT	0.527			T	TCF3	ALL																																p.D77D			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	17						.						116.0	113.0	114.0					17																	53345227		2203	4300	6503	50700226	SO:0001819	synonymous_variant	3131	exon2				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.231C>T	17.37:g.53345227C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50700226	NM_002126	A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	37	CCDS11585.1																																																																																				0.527	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126	
DERL2	51009	broad.mit.edu	37	17	5383801	5383801	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:5383801G>T	ENST00000158771.4	-	5	484	c.429C>A	c.(427-429)ttC>ttA	p.F143L	DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	143					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)		p.F143L(1)		large_intestine(3)	3						GAAGGCCGAAGAAGTTCATGC	0.493																																					p.F143L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C429A	17						.						137.0	146.0	143.0					17																	5383801		2203	4300	6503	5324525	SO:0001583	missense	51009	exon5			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.429C>A	17.37:g.5383801G>T	ENSP00000158771:p.Phe143Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5324525	NM_016041	Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470601	0.63625	.	.	ENSG00000072849	ENST00000158771	T	0.35605	1.3	6.07	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.72576	2.205	0.80722	D	1	B	0.31581	0.329	B	0.40375	0.327	T	0.29336	-1.0015	10	0.34782	T	0.22	-0.1995	11.9228	0.52801	0.1389:0.0:0.8611:0.0	.	143	Q9GZP9	DERL2_HUMAN	L	143	ENSP00000158771:F143L	ENSP00000158771:F143L	F	-	3	2	DERL2	5324525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.756000	0.55205	0.909000	0.36697	0.655000	0.94253	TTC		0.493	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041	
ANKFN1	162282	broad.mit.edu	37	17	54431319	54431319	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:54431319C>A	ENST00000318698.2	+	5	557	c.522C>A	c.(520-522)ggC>ggA	p.G174G	ANKFN1_ENST00000566473.2_Silent_p.G174G	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	174								p.G174G(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAGCGAGGGCTTGACACCCC	0.507																																					p.G174G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522A	17						.						196.0	138.0	158.0					17																	54431319		2203	4300	6503	51786318	SO:0001819	synonymous_variant	162282	exon5			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.522C>A	17.37:g.54431319C>A		Somatic		Capture	Illumina HiSeq	Phase_I	51786318	NM_153228		Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																				0.507	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
RNF43	54894	broad.mit.edu	37	17	56439945	56439945	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:56439945G>A	ENST00000584437.1	-	5	2602	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RNF43_ENST00000577625.1_Missense_Mutation_p.S89L|RNF43_ENST00000577716.1_Missense_Mutation_p.S216L|RNF43_ENST00000583753.1_Missense_Mutation_p.S175L|RNF43_ENST00000407977.2_Missense_Mutation_p.S216L|RNF43_ENST00000500597.2_Missense_Mutation_p.S175L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S89L			Q68DV7	RNF43_HUMAN	ring finger protein 43	216					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S216L(2)|p.S216*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCAGCACCGAAGCCAGGAT	0.597																																					p.S216L												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|pancreas(1)	c.C647T	17						.						84.0	73.0	77.0					17																	56439945		2203	4300	6503	53794944	SO:0001583	missense	54894	exon6				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.647C>T	17.37:g.56439945G>A	ENSP00000463069:p.Ser216Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53794944	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775100	0.16051	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.07021	3.4;3.23	5.43	3.44	0.39384	.	0.610117	0.16620	N	0.206515	T	0.03305	0.0096	N	0.03608	-0.345	0.33876	D	0.6355	B;B;B	0.15473	0.004;0.013;0.002	B;B;B	0.08055	0.001;0.003;0.0	T	0.35425	-0.9789	10	0.11182	T	0.66	-19.4217	8.7259	0.34469	0.2594:0.0:0.7406:0.0	.	175;216;216	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	216;175	ENSP00000385328:S216L;ENSP00000441969:S175L	ENSP00000385328:S216L	S	-	2	0	RNF43	53794944	0.998000	0.40836	0.445000	0.26908	0.962000	0.63368	3.075000	0.50073	0.663000	0.31027	0.491000	0.48974	TCG		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
HSF5	124535	broad.mit.edu	37	17	56540363	56540363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:56540363G>T	ENST00000323777.3	-	4	1431	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	441					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S441Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCACAAAAGACATAATATC	0.458																																					p.S441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1322A	17						.						144.0	130.0	135.0					17																	56540363		2203	4300	6503	53895362	SO:0001583	missense	124535	exon4			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1322C>A	17.37:g.56540363G>T	ENSP00000313243:p.Ser441Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	53895362	NM_001080439	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573090	0.65765	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.73363	-0.74	5.18	5.18	0.71444	.	0.400156	0.24328	N	0.039498	T	0.78991	0.4371	L	0.27053	0.805	0.39568	D	0.969235	D	0.65815	0.995	D	0.75484	0.986	T	0.82372	-0.0490	10	0.87932	D	0	.	15.4309	0.75099	0.0:0.0:1.0:0.0	.	441	Q4G112	HSF5_HUMAN	Y	341;441	ENSP00000313243:S441Y	ENSP00000313243:S441Y	S	-	2	0	HSF5	53895362	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	6.001000	0.70685	2.423000	0.82170	0.650000	0.86243	TCT		0.458	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190	
NLRP1	22861	broad.mit.edu	37	17	5486065	5486065	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:5486065G>A	ENST00000572272.1	-	2	372	c.373C>T	c.(373-375)Ccg>Tcg	p.P125S	NLRP1_ENST00000354411.3_Missense_Mutation_p.P125S|NLRP1_ENST00000345221.3_Missense_Mutation_p.P125S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P125S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P125S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P125S|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.P125S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACCCCGCCGGCAATTCATGG	0.622																																					p.P125S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C373T	17						.						45.0	43.0	44.0					17																	5486065		2203	4300	6503	5426789	SO:0001583	missense	22861	exon2			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.373C>T	17.37:g.5486065G>A	ENSP00000460475:p.Pro125Ser	Somatic		Capture	Illumina HiSeq	Phase_I	5426789	NM_033004	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180731	0.21787	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.70869	-0.52;-0.52;-0.5;-0.48;-0.5	2.7	0.258	0.15578	.	.	.	.	.	T	0.45577	0.1349	N	0.14661	0.345	0.09310	N	1	B;B;B;P;B	0.36683	0.072;0.379;0.127;0.565;0.261	B;B;B;B;B	0.37780	0.008;0.201;0.014;0.258;0.014	T	0.31861	-0.9928	9	0.12766	T	0.61	.	2.9272	0.05788	0.1572:0.0:0.47:0.3729	.	125;125;125;125;125	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	S	125	ENSP00000442029:P125S;ENSP00000262467:P125S;ENSP00000269280:P125S;ENSP00000346390:P125S;ENSP00000324366:P125S	ENSP00000262467:P125S	P	-	1	0	NLRP1	5426789	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.855000	0.04295	0.065000	0.16485	0.555000	0.69702	CCG		0.622	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
C17orf47	284083	broad.mit.edu	37	17	56621430	56621430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:56621430G>A	ENST00000321691.3	-	1	299	c.118C>T	c.(118-120)Cga>Tga	p.R40*	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	40								p.R40*(2)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCACTTCGATGGCTTGAG	0.557																																					p.R40X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C118T	17						.						167.0	132.0	144.0					17																	56621430		2203	4300	6503	53976429	SO:0001587	stop_gained	284083	exon1				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.118C>T	17.37:g.56621430G>A	ENSP00000354874:p.Arg40*	Somatic		Capture	Illumina HiSeq	Phase_I	53976429	NM_001038704	Q8N821	Nonsense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422539	0.62622	.	.	ENSG00000181013	ENST00000321691	.	.	.	5.41	3.24	0.37175	.	1.170850	0.06312	N	0.702804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.121	11.2029	0.48751	0.0:0.0:0.6725:0.3275	.	.	.	.	X	40	.	ENSP00000354874:R40X	R	-	1	2	C17orf47	53976429	0.001000	0.12720	0.050000	0.19076	0.014000	0.08584	0.643000	0.24750	1.363000	0.46019	0.655000	0.94253	CGA		0.557	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
PPM1E	22843	broad.mit.edu	37	17	57043102	57043102	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57043102G>A	ENST00000308249.2	+	3	760	c.631G>A	c.(631-633)Gag>Aag	p.E211K	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.E211K(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAAACTACACGAGATTTGCTG	0.458																																					p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	17						.						184.0	190.0	188.0					17																	57043102		2203	4300	6503	54397884	SO:0001583	missense	22843	exon3			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.631G>A	17.37:g.57043102G>A	ENSP00000312411:p.Glu211Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54397884	NM_014906	Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503719	0.96371	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.21191	2.02	5.63	5.63	0.86233	.	0.987813	0.08273	N	0.971078	T	0.36054	0.0953	M	0.65975	2.015	0.80722	D	1	P	0.43169	0.8	B	0.43018	0.405	T	0.34229	-0.9837	10	0.52906	T	0.07	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	211	Q8WY54-2	.	K	211;63	ENSP00000312411:E211K	ENSP00000312411:E211K	E	+	1	0	PPM1E	54397884	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.869000	0.99810	2.650000	0.89964	0.557000	0.71058	GAG		0.458	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906	
TRIM37	4591	broad.mit.edu	37	17	57157115	57157115	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57157115C>A	ENST00000262294.7	-	7	875	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	TRIM37_ENST00000376149.3_Splice_Site_p.G84C|TRIM37_ENST00000393065.2_Splice_Site_p.G172C|TRIM37_ENST00000393066.3_Splice_Site_p.G206C	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	206					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G206C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAACACTTACCCATCAGTGTT	0.418									Mulibrey Nanism																												p.G206C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616T	17						.						239.0	200.0	214.0					17																	57157115		2203	4300	6503	54511897	SO:0001630	splice_region_variant	4591	exon7	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.616+1G>T	17.37:g.57157115C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54511897	NM_015294	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148044	0.57151	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.67171	1.51;1.51;-0.25;1.11	5.71	5.71	0.89125	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.97110	0.976;1.0;0.912	T	0.81446	-0.0929	9	.	.	.	.	19.8505	0.96738	0.0:1.0:0.0:0.0	.	172;84;206	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	C	206;206;84;172	ENSP00000376785:G206C;ENSP00000262294:G206C;ENSP00000365319:G84C;ENSP00000376784:G172C	.	G	-	1	0	TRIM37	54511897	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.743000	0.85020	2.688000	0.91661	0.655000	0.94253	GGT		0.418	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	Missense_Mutation
SMG8	55181	broad.mit.edu	37	17	57288994	57288994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57288994C>T	ENST00000543872.2	+	2	1846	c.1582C>T	c.(1582-1584)Ctt>Ttt	p.L528F	SMG8_ENST00000578922.1_Missense_Mutation_p.L528F|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.L528F			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	528					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.L528F(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAGAATCAGCTTGCCCAGGC	0.443																																					p.L528F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1582T	17						.						84.0	76.0	79.0					17																	57288994		2203	4300	6503	54643776	SO:0001583	missense	55181	exon1			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1582C>T	17.37:g.57288994C>T	ENSP00000438748:p.Leu528Phe	Somatic		Capture	Illumina HiSeq	Phase_I	54643776	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080513	0.76528	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.47869	0.83;0.83	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72527	-0.4266	10	0.72032	D	0.01	-16.006	18.9389	0.92597	0.0:1.0:0.0:0.0	.	528	Q8ND04	SMG8_HUMAN	F	528	ENSP00000300917:L528F;ENSP00000438748:L528F	ENSP00000300917:L528F	L	+	1	0	SMG8	54643776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.976000	0.63785	2.705000	0.92388	0.655000	0.94253	CTT		0.443	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
YPEL2	388403	broad.mit.edu	37	17	57474478	57474478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57474478G>A	ENST00000312655.4	+	5	605	c.287G>A	c.(286-288)aGc>aAc	p.S96N	YPEL2_ENST00000585166.1_Missense_Mutation_p.S96N|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	96						nucleus (GO:0005634)		p.S96N(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCTTTTGAAAGCAGCCAGAAA	0.393																																					p.S96N	Melanoma(86;1113 1364 8518 42220 42625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	17						.						92.0	79.0	83.0					17																	57474478		2203	4300	6503	54829260	SO:0001583	missense	388403	exon5			AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.287G>A	17.37:g.57474478G>A	ENSP00000312272:p.Ser96Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54829260	NM_001005404	A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304177	0.60305	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.35854	1.095	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46925	-0.9156	9	0.37606	T	0.19	-0.7815	19.0544	0.93058	0.0:0.0:1.0:0.0	.	96	Q96QA6	YPEL2_HUMAN	N	96	.	ENSP00000312272:S96N	S	+	2	0	YPEL2	54829260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.826000	0.97356	0.561000	0.74099	AGC		0.393	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	
CLTC	1213	broad.mit.edu	37	17	57758289	57758289	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57758289T>C	ENST00000269122.3	+	19	3210	c.2936T>C	c.(2935-2937)tTg>tCg	p.L979S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L979S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	979	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.L979S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAACAGCTTTGTCTGAGACT	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.L979S			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2936C	17						.						121.0	115.0	117.0					17																	57758289		2203	4300	6503	55113071	SO:0001583	missense	1213	exon19			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2936T>C	17.37:g.57758289T>C	ENSP00000269122:p.Leu979Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55113071	NM_004859	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641024	0.87859	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.35236	1.32;1.32	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.068111	0.56097	D	0.000021	T	0.70011	0.3175	M	0.93283	3.4	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.991	T	0.79266	-0.1874	10	0.87932	D	0	-19.4967	15.6464	0.77055	0.0:0.0:0.0:1.0	.	979;979	Q00610;Q00610-2	CLH1_HUMAN;.	S	979	ENSP00000269122:L979S;ENSP00000376763:L979S	ENSP00000269122:L979S	L	+	2	0	CLTC	55113071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.104000	0.64026	0.528000	0.53228	TTG		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
PTRH2	51651	broad.mit.edu	37	17	57775226	57775226	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57775226C>A	ENST00000470557.2	-	1	3560	c.114G>T	c.(112-114)ggG>ggT	p.G38G	PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000393038.2_Silent_p.G38G|PTRH2_ENST00000409433.2_Silent_p.G39G|PTRH2_ENST00000537860.1_Silent_p.G38G			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	38					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)	p.G38G(1)		large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGGGAGCATCCCAAAGCATA	0.507																																					p.G38G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G114T	17						.						77.0	67.0	71.0					17																	57775226		2203	4300	6503	55130008	SO:0001819	synonymous_variant	51651	exon2			AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.114G>T	17.37:g.57775226C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55130008	NM_016077	B3KUY4|Q9NTE5	Silent	SNP	ENST00000470557.2	37	CCDS11618.1																																																																																				0.507	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077	
RPS6KB1	6198	broad.mit.edu	37	17	58018208	58018208	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:58018208G>A	ENST00000225577.4	+	13	1152	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	RP11-178C3.1_ENST00000591035.1_5'Flank|RPS6KB1_ENST00000406116.3_Silent_p.E377E|RPS6KB1_ENST00000393021.3_Silent_p.E324E|RPS6KB1_ENST00000443572.2_Silent_p.E354E	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	377	AGC-kinase C-terminal.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.E377E(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AATCTGAAGAGGATGTAAGTC	0.383																																					p.E377E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1131A	17						.						39.0	46.0	44.0					17																	58018208		1334	2275	3609	55372990	SO:0001819	synonymous_variant	6198	exon13			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1131G>A	17.37:g.58018208G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55372990	NM_003161	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	CCDS11621.1																																																																																				0.383	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161	
CA4	762	broad.mit.edu	37	17	58234877	58234877	+	Missense_Mutation	SNP	G	G	A	rs373844529		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:58234877G>A	ENST00000300900.4	+	4	457	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	120					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D120N(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCACTGGTCCGACTTGCCATA	0.602																																					p.D120N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358A	17						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	150.0	133.0	139.0		358	-9.2	0.0	17		139	0,8600		0,0,4300	no	missense	CA4	NM_000717.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	120/313	58234877	1,13005	2203	4300	6503	55589659	SO:0001583	missense	762	exon4			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.358G>A	17.37:g.58234877G>A	ENSP00000300900:p.Asp120Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55589659	NM_000717	B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	g	2.182	-0.387422	0.04932	2.27E-4	0.0	ENSG00000167434	ENST00000300900	T	0.66815	-0.23	4.61	-9.21	0.00678	Carbonic anhydrase, alpha-class, catalytic domain (4);	2.859010	0.00868	N	0.001990	T	0.35158	0.0922	N	0.03948	-0.315	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36672	-0.9738	10	0.10902	T	0.67	.	6.9074	0.24317	0.2219:0.1702:0.521:0.0869	.	120	P22748	CAH4_HUMAN	N	120	ENSP00000300900:D120N	ENSP00000300900:D120N	D	+	1	0	CA4	55589659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.979000	0.00663	-3.512000	0.00149	-0.598000	0.04106	GAC		0.602	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717	
USP32	84669	broad.mit.edu	37	17	58257983	58257983	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:58257983G>T	ENST00000300896.4	-	33	4758	c.4564C>A	c.(4564-4566)Ctg>Atg	p.L1522M	USP32_ENST00000592339.1_Missense_Mutation_p.L1192M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1522	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L1522M(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCCCCACCCAGAATTCCTGAA	0.443																																					p.L1522M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4564A	17						.						116.0	102.0	107.0					17																	58257983		2203	4300	6503	55612765	SO:0001583	missense	84669	exon33			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4564C>A	17.37:g.58257983G>T	ENSP00000300896:p.Leu1522Met	Somatic		Capture	Illumina HiSeq	Phase_I	55612765	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088359	0.36855	.	.	ENSG00000170832	ENST00000300896	T	0.32515	1.45	5.72	3.59	0.41128	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.145057	0.64402	D	0.000012	T	0.12603	0.0306	N	0.10809	0.05	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.18999	-1.0319	10	0.14252	T	0.57	.	4.5305	0.12002	0.181:0.0:0.5772:0.2418	.	1522	Q8NFA0	UBP32_HUMAN	M	1522	ENSP00000300896:L1522M	ENSP00000300896:L1522M	L	-	1	2	USP32	55612765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	2.690000	0.91761	0.650000	0.86243	CTG		0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
USP32	84669	broad.mit.edu	37	17	58372158	58372158	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:58372158A>C	ENST00000300896.4	-	4	491	c.297T>G	c.(295-297)atT>atG	p.I99M	USP32_ENST00000393003.3_Missense_Mutation_p.I99M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	99	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I99M(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAAGACTAAAAATGTCTAAGA	0.358																																					p.I99M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T297G	17						.						49.0	47.0	48.0					17																	58372158		2203	4299	6502	55726940	SO:0001583	missense	84669	exon4			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.297T>G	17.37:g.58372158A>C	ENSP00000300896:p.Ile99Met	Somatic		Capture	Illumina HiSeq	Phase_I	55726940	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415671	0.42817	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.45276	0.9;0.9	5.39	4.27	0.50696	EF-hand-like domain (1);	0.057739	0.64402	D	0.000002	T	0.26629	0.0651	L	0.27053	0.805	0.50632	D	0.99988	P;B	0.45902	0.868;0.28	B;B	0.34242	0.178;0.115	T	0.05784	-1.0864	10	0.72032	D	0.01	.	11.4628	0.50221	0.865:0.0:0.0:0.135	.	99;99	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	M	99	ENSP00000300896:I99M;ENSP00000376727:I99M	ENSP00000300896:I99M	I	-	3	3	USP32	55726940	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.453000	0.52978	0.832000	0.34804	0.482000	0.46254	ATT		0.358	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
TBX4	9496	broad.mit.edu	37	17	59556101	59556101	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:59556101G>T	ENST00000240335.1	+	5	708	c.663G>T	c.(661-663)gaG>gaT	p.E221D	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.E221D	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	221					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E221D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTTCCCAGAGACCTCCTTCA	0.547																																					p.E221D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G663T	17						.						202.0	168.0	180.0					17																	59556101		2203	4300	6503	56910883	SO:0001583	missense	9496	exon5			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.663G>T	17.37:g.59556101G>T	ENSP00000240335:p.Glu221Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56910883	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543191	0.65198	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.89552	-2.53;-2.53	5.94	3.97	0.46021	p53-like transcription factor, DNA-binding (1);	0.046236	0.85682	D	0.000000	D	0.93903	0.8049	M	0.83953	2.67	0.58432	D	0.999999	B;D	0.56287	0.355;0.975	B;D	0.74348	0.149;0.983	D	0.93406	0.6764	9	.	.	.	.	11.8267	0.52271	0.1427:0.0:0.8573:0.0	.	221;221	A5PKU7;P57082	.;TBX4_HUMAN	D	221	ENSP00000377435:E221D;ENSP00000240335:E221D	.	E	+	3	2	TBX4	56910883	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.003000	0.40844	0.870000	0.35726	0.561000	0.74099	GAG		0.547	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488	
MED13	9969	broad.mit.edu	37	17	60028344	60028344	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60028344G>A	ENST00000397786.2	-	28	6209	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2045					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R2045W(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATAGTAGCCGATCAGTACTC	0.383																																					p.R2045W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C6133T	17						.						102.0	91.0	94.0					17																	60028344		1886	4132	6018	57383126	SO:0001583	missense	9969	exon28			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6133C>T	17.37:g.60028344G>A	ENSP00000380888:p.Arg2045Trp	Somatic		Capture	Illumina HiSeq	Phase_I	57383126	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053105	0.93793	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83506	-1.73	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91608	0.5300	10	0.87932	D	0	-10.8273	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2045	Q9UHV7	MED13_HUMAN	W	2045;2044	ENSP00000380888:R2045W	ENSP00000262436:R2044W	R	-	1	2	MED13	57383126	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.115000	0.71566	2.873000	0.98535	0.561000	0.74099	CGG		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60039087	60039087	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60039087G>T	ENST00000397786.2	-	22	5194	c.5118C>A	c.(5116-5118)atC>atA	p.I1706I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1706					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.I1706I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTGGGGATAGATTTCTCTAT	0.403																																					p.I1706I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5118A	17						.						138.0	138.0	138.0					17																	60039087		1824	4076	5900	57393869	SO:0001819	synonymous_variant	9969	exon22			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5118C>A	17.37:g.60039087G>T		Somatic		Capture	Illumina HiSeq	Phase_I	57393869	NM_005121	B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																				0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60088302	60088302	+	Missense_Mutation	SNP	C	C	T	rs377536341		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60088302C>T	ENST00000397786.2	-	9	1652	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	526					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E526K(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTGCCATTTCGGTGCCATGC	0.458																																					p.E526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	17						.	C	LYS/GLU	1,3977		0,1,1988	230.0	219.0	222.0		1576	6.2	1.0	17		222	0,8334		0,0,4167	no	missense	MED13	NM_005121.2	56	0,1,6155	TT,TC,CC		0.0,0.0251,0.0081	possibly-damaging	526/2175	60088302	1,12311	1989	4167	6156	57443084	SO:0001583	missense	9969	exon9			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1576G>A	17.37:g.60088302C>T	ENSP00000380888:p.Glu526Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57443084	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537246	0.45176	2.51E-4	0.0	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73681	-0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.64506	0.926;0.771	T	0.72865	-0.4163	10	0.06494	T	0.89	-21.9551	20.8598	0.99761	0.0:1.0:0.0:0.0	.	39;526	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	K	526;525	ENSP00000380888:E526K	ENSP00000262436:E525K	E	-	1	0	MED13	57443084	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.791000	0.75120	2.937000	0.99478	0.650000	0.86243	GAA		0.458	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60106923	60106923	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60106923C>A	ENST00000397786.2	-	8	1338	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	421					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R421I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAATTTGTTCTTTGTGTGGC	0.413																																					p.R421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262T	17						.						110.0	104.0	106.0					17																	60106923		1923	4136	6059	57461705	SO:0001583	missense	9969	exon8			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1262G>T	17.37:g.60106923C>A	ENSP00000380888:p.Arg421Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57461705	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789997	0.50102	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.79749	-1.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	D	0.87040	0.2140	10	0.45353	T	0.12	-28.3629	18.9615	0.92679	0.0:1.0:0.0:0.0	.	421	Q9UHV7	MED13_HUMAN	I	421;420	ENSP00000380888:R421I	ENSP00000262436:R420I	R	-	2	0	MED13	57461705	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.754000	0.55189	2.466000	0.83321	0.563000	0.77884	AGA		0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MARCH10	162333	broad.mit.edu	37	17	60813805	60813805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60813805G>T	ENST00000311269.5	-	6	1698	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.S474*|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.S513*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.S475*|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	475					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S475*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGCATGAATGATGCAGGAGG	0.398																																					p.S475X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1424A	17						.						97.0	94.0	95.0					17																	60813805		2203	4300	6503	58167537	SO:0001587	stop_gained	162333	exon6			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1424C>A	17.37:g.60813805G>T	ENSP00000311496:p.Ser475*	Somatic		Capture	Illumina HiSeq	Phase_I	58167537	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	37	6.545999	0.97654	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.25	5.25	0.73442	.	0.257722	0.27932	N	0.017265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2753	14.7056	0.69189	0.0:0.0:1.0:0.0	.	.	.	.	X	475;475;474	.	ENSP00000311496:S475X	S	-	2	0	MARCH10	58167537	0.675000	0.27558	0.014000	0.15608	0.004000	0.04260	4.851000	0.62896	2.616000	0.88540	0.561000	0.74099	TCA		0.398	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
TANC2	26115	broad.mit.edu	37	17	61482599	61482599	+	Missense_Mutation	SNP	C	C	T	rs368122235		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:61482599C>T	ENST00000424789.2	+	18	3230	c.3226C>T	c.(3226-3228)Cgc>Tgc	p.R1076C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1076C|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1076					in utero embryonic development (GO:0001701)			p.R1076C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCACAGTGCGCCAGGGCCA	0.597																																					p.R1076C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3226T	17						.						15.0	17.0	16.0					17																	61482599		2028	4175	6203	58836331	SO:0001583	missense	26115	exon18			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3226C>T	17.37:g.61482599C>T	ENSP00000387593:p.Arg1076Cys	Somatic		Capture	Illumina HiSeq	Phase_I	58836331	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705905	0.68615	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66460	-0.21;-0.21	5.33	5.33	0.75918	Ankyrin repeat-containing domain (4);	0.057977	0.64402	D	0.000001	T	0.76385	0.3980	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.77900	-0.2415	10	0.66056	D	0.02	.	14.5027	0.67732	0.2176:0.7824:0.0:0.0	.	1076;1076	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	1076	ENSP00000374171:R1076C;ENSP00000387593:R1076C	ENSP00000374171:R1076C	R	+	1	0	TANC2	58836331	0.706000	0.27856	1.000000	0.80357	0.862000	0.49288	0.715000	0.25822	2.507000	0.84556	0.655000	0.94253	CGC		0.597	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
TANC2	26115	broad.mit.edu	37	17	61497366	61497366	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:61497366C>T	ENST00000424789.2	+	25	4027	c.4023C>T	c.(4021-4023)ttC>ttT	p.F1341F	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.F1351F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1341					in utero embryonic development (GO:0001701)			p.F1351F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGACAGTTCGCAGCAGCCT	0.483																																					p.F1341F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4023T	17						.						25.0	27.0	26.0					17																	61497366		1750	3449	5199	58851098	SO:0001819	synonymous_variant	26115	exon25			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4023C>T	17.37:g.61497366C>T		Somatic		Capture	Illumina HiSeq	Phase_I	58851098	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.483	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
KCNH6	81033	broad.mit.edu	37	17	61619688	61619688	+	Missense_Mutation	SNP	G	G	A	rs148146561		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:61619688G>A	ENST00000583023.1	+	9	2052	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	KCNH6_ENST00000314672.5_Missense_Mutation_p.D681N|KCNH6_ENST00000456941.2_Missense_Mutation_p.D628N|KCNH6_ENST00000581784.1_Missense_Mutation_p.D628N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	681					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.D681N(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACCTACTGCGACCTGCACAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19928	0.0		0.001	False		,,,				2504	0.0				p.D681N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041A	17						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	100.0	83.0	89.0		2041,1882	4.7	1.0	17	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	681/995,628/906	61619688	1,13005	2203	4300	6503	58973420	SO:0001583	missense	81033	exon9			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2041G>A	17.37:g.61619688G>A	ENSP00000463533:p.Asp681Asn	Somatic		Capture	Illumina HiSeq	Phase_I	58973420	NM_030779	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.405368	0.96051	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.92752	-3.1;-3.1	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.998	D	0.97067	0.9775	10	0.87932	D	0	.	17.687	0.88258	0.0:0.0:1.0:0.0	.	558;681;628;681	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	N	681;628	ENSP00000318212:D681N;ENSP00000396900:D628N	ENSP00000318212:D681N	D	+	1	0	KCNH6	58973420	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.148000	0.66965	0.467000	0.42956	GAC		0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
MAP3K3	4215	broad.mit.edu	37	17	61768521	61768521	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:61768521C>T	ENST00000361733.3	+	13	1592	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	MAP3K3_ENST00000361357.3_Silent_p.I455I|MAP3K3_ENST00000584573.1_Silent_p.I451I|MAP3K3_ENST00000579585.1_Silent_p.I455I|MAP3K3_ENST00000577395.1_Silent_p.I420I	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.I424I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ATGAGCGCATCGTGCAGTACT	0.582																																					p.I455I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1365T	17						.						128.0	103.0	111.0					17																	61768521		2203	4300	6503	59122253	SO:0001819	synonymous_variant	4215	exon14			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1272C>T	17.37:g.61768521C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59122253	NM_203351	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																				0.582	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	
PSMC5	5705	broad.mit.edu	37	17	61908971	61908971	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:61908971G>T	ENST00000310144.6	+	10	1383	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L	PSMC5_ENST00000581882.1_Missense_Mutation_p.V351L|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Missense_Mutation_p.V351L|PSMC5_ENST00000580864.1_Missense_Mutation_p.V351L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	359	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.V359L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGGGGCTGAAGTGAAGGTAAT	0.532																																					p.V359L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1075T	17						.						36.0	37.0	36.0					17																	61908971		2203	4300	6503	59262703	SO:0001583	missense	5705	exon10			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.1075G>T	17.37:g.61908971G>T	ENSP00000310572:p.Val359Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59262703	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	4.188	0.033564	0.08101	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.73152	-0.72;-0.72	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.00778	-1.195	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.50491	-0.8822	10	0.02654	T	1	.	16.2381	0.82393	0.0:0.0:1.0:0.0	.	351;359	A8K3Z3;P62195	.;PRS8_HUMAN	L	359;351	ENSP00000310572:V359L;ENSP00000364970:V351L	ENSP00000310572:V359L	V	+	1	0	PSMC5	59262703	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	9.583000	0.98217	2.691000	0.91804	0.561000	0.74099	GTG		0.532	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
SCN4A	6329	broad.mit.edu	37	17	62019085	62019085	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62019085G>A	ENST00000435607.1	-	24	4633	c.4557C>T	c.(4555-4557)ttC>ttT	p.F1519F	SCN4A_ENST00000578147.1_Silent_p.F1519F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1519					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1519F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAAGGTCTCGAAGTTGAACA	0.567																																					p.F1519F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4557T	17						.						115.0	110.0	112.0					17																	62019085		2203	4300	6503	59372817	SO:0001819	synonymous_variant	6329	exon24			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4557C>T	17.37:g.62019085G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59372817	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
ERN1	2081	broad.mit.edu	37	17	62125338	62125338	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62125338G>T	ENST00000433197.3	-	19	2504	c.2409C>A	c.(2407-2409)gtC>gtA	p.V803V		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.V803V(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CACGTGCAATGACGTCTTCTA	0.438																																					p.V803V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2409A	17						.						64.0	62.0	63.0					17																	62125338		1946	4144	6090	59479070	SO:0001819	synonymous_variant	2081	exon19			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2409C>A	17.37:g.62125338G>T		Somatic		Capture	Illumina HiSeq	Phase_I	59479070	NM_001433		Silent	SNP	ENST00000433197.3	37	CCDS45762.1																																																																																				0.438	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433	
Unknown	0	broad.mit.edu	37	17	62407079	62407079	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62407079G>A								TEX2 (66418 upstream) : MILR1 (54489 downstream)																							GCTTTCCACGGCATCTACAAA	0.433																																					p.A632V												.	.	0			c.C1895T	17						.						63.0	61.0	62.0					17																	62407079		1975	4173	6148	59760811	SO:0001628	intergenic_variant	5175	exon14																															17.37:g.62407079G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59760811	NM_000442		Missense_Mutation	SNP		37																																																																																				0	0.433								
RGS9	8787	broad.mit.edu	37	17	63204096	63204096	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:63204096T>A	ENST00000262406.9	+	16	1327	c.1260T>A	c.(1258-1260)gcT>gcA	p.A420A	RGS9_ENST00000443584.3_Silent_p.A417A|RGS9_ENST00000449996.3_Silent_p.A417A	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	420					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.A420A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGGCCAAAGCTATTGAACCTC	0.413																																					p.A420A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1260A	17						.						103.0	90.0	94.0					17																	63204096		1861	4093	5954	60634558	SO:0001819	synonymous_variant	8787	exon16			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1260T>A	17.37:g.63204096T>A		Somatic		Capture	Illumina HiSeq	Phase_I	60634558	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	CCDS42373.1																																																																																				0.413	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
AXIN2	8313	broad.mit.edu	37	17	63537616	63537616	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:63537616C>T	ENST00000375702.5	-	3	1124	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.R339H			Q9Y2T1	AXIN2_HUMAN	axin 2	339	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.R339H(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTCACACTGCGATGCATTTC	0.483									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.R339H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	17						.						188.0	155.0	166.0					17																	63537616		2203	4300	6503	60968078	SO:0001583	missense	8313	exon4	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1016G>A	17.37:g.63537616C>T	ENSP00000364854:p.Arg339His	Somatic		Capture	Illumina HiSeq	Phase_I	60968078	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37		.	.	.	.	.	.	.	.	.	.	C	32	5.122851	0.94429	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83673	-1.75;-1.75	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.999;0.891;0.999	D	0.91741	0.5404	10	0.72032	D	0.01	-29.2051	18.2524	0.90007	0.0:1.0:0.0:0.0	.	339;339;339	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	H	339	ENSP00000302625:R339H;ENSP00000364854:R339H	ENSP00000302625:R339H	R	-	2	0	AXIN2	60968078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.774000	0.68906	2.317000	0.78254	0.561000	0.74099	CGC		0.483	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
CEP112	201134	broad.mit.edu	37	17	63847973	63847973	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:63847973T>G	ENST00000392769.2	-	21	2561	c.2343A>C	c.(2341-2343)aaA>aaC	p.K781N	CEP112_ENST00000541355.1_Missense_Mutation_p.K416N|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K739N|CEP112_ENST00000535342.2_Missense_Mutation_p.K781N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	781					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.K781N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCAGCTCTATTTTCATCTTTT	0.378																																					p.K781N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2343C	17						.						203.0	189.0	194.0					17																	63847973		2203	4300	6503	61278435	SO:0001583	missense	201134	exon21			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2343A>C	17.37:g.63847973T>G	ENSP00000376522:p.Lys781Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61278435	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172880	0.38413	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.48201	0.82;0.82;0.86;0.82	5.05	-1.75	0.08031	.	0.308380	0.28493	N	0.015160	T	0.33990	0.0882	L	0.36672	1.1	0.09310	N	1	B;B;B	0.25609	0.13;0.13;0.13	B;B;B	0.29524	0.103;0.064;0.103	T	0.28202	-1.0051	10	0.22109	T	0.4	-16.194	12.8021	0.57593	0.0:0.6738:0.0:0.3262	.	739;739;781	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	N	781;781;416;739	ENSP00000442784:K781N;ENSP00000376522:K781N;ENSP00000443711:K416N;ENSP00000440775:K739N	ENSP00000376522:K781N	K	-	3	2	CEP112	61278435	0.000000	0.05858	0.099000	0.21106	0.947000	0.59692	-1.345000	0.02637	-0.271000	0.09272	-0.388000	0.06559	AAA		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
CEP112	201134	broad.mit.edu	37	17	63957615	63957615	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:63957615T>C	ENST00000392769.2	-	18	2056	c.1838A>G	c.(1837-1839)aAc>aGc	p.N613S	CEP112_ENST00000541355.1_Missense_Mutation_p.N248S|CEP112_ENST00000537949.1_Missense_Mutation_p.N571S|CEP112_ENST00000535342.2_Missense_Mutation_p.N613S	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	613					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.N613S(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTCTCTGAGTTCAGTTCCAC	0.493																																					p.N613S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1838G	17						.						134.0	118.0	124.0					17																	63957615		2203	4300	6503	61388077	SO:0001583	missense	201134	exon18			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1838A>G	17.37:g.63957615T>C	ENSP00000376522:p.Asn613Ser	Somatic		Capture	Illumina HiSeq	Phase_I	61388077	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862576	0.32884	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.34	4.25	0.50352	.	0.100149	0.64402	D	0.000003	T	0.18383	0.0441	L	0.43152	1.355	0.35929	D	0.832381	B;B;B	0.22800	0.075;0.033;0.075	B;B;B	0.24974	0.057;0.028;0.057	T	0.12502	-1.0545	10	0.15952	T	0.53	-11.0061	12.5694	0.56328	0.0:0.0:0.1386:0.8614	.	571;571;613	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	S	613;613;248;571	ENSP00000442784:N613S;ENSP00000376522:N613S;ENSP00000443711:N248S;ENSP00000440775:N571S	ENSP00000376522:N613S	N	-	2	0	CEP112	61388077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.021000	0.57196	0.833000	0.34828	0.482000	0.46254	AAC		0.493	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
CEP112	201134	broad.mit.edu	37	17	64066057	64066057	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:64066057C>A	ENST00000392769.2	-	9	1049	c.831G>T	c.(829-831)caG>caT	p.Q277H	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.Q235H|CEP112_ENST00000535342.2_Missense_Mutation_p.Q277H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	277					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.Q277H(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CATCATGTTTCTGTTGCAGTT	0.294																																					p.Q277H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G831T	17						.						172.0	155.0	160.0					17																	64066057		2203	4294	6497	61496519	SO:0001583	missense	201134	exon9			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.831G>T	17.37:g.64066057C>A	ENSP00000376522:p.Gln277His	Somatic		Capture	Illumina HiSeq	Phase_I	61496519	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523857	0.44866	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.54279	0.58;0.58;0.61	4.99	4.99	0.66335	.	0.124539	0.56097	D	0.000027	T	0.63236	0.2494	L	0.56769	1.78	0.80722	D	1	P;P;P	0.40794	0.729;0.729;0.729	P;P;P	0.50896	0.576;0.452;0.653	T	0.64597	-0.6370	10	0.52906	T	0.07	-11.808	17.4254	0.87525	0.0:1.0:0.0:0.0	.	235;235;277	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	H	277;277;235	ENSP00000442784:Q277H;ENSP00000376522:Q277H;ENSP00000440775:Q235H	ENSP00000376522:Q277H	Q	-	3	2	CEP112	61496519	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.322000	0.52007	2.487000	0.83934	0.650000	0.86243	CAG		0.294	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
PRKCA	5578	broad.mit.edu	37	17	64738797	64738797	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:64738797C>A	ENST00000413366.3	+	13	1469	c.1443C>A	c.(1441-1443)gaC>gaA	p.D481E		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.D481E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AAATTGCTGACTTTGGGATGT	0.478																																					p.D481E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1443A	17						.						176.0	156.0	163.0					17																	64738797		2203	4300	6503	62169259	SO:0001583	missense	5578	exon13				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1443C>A	17.37:g.64738797C>A	ENSP00000408695:p.Asp481Glu	Somatic		Capture	Illumina HiSeq	Phase_I	62169259	NM_002737	B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229301	0.79688	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.92911	-3.13	5.6	-0.525	0.11917	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	D	0.96793	0.8953	H	0.97732	4.065	0.50632	D	0.999887	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95462	0.8544	10	0.87932	D	0	.	10.0636	0.42290	0.0:0.3702:0.0:0.6298	.	481;392	P17252;Q59FI5	KPCA_HUMAN;.	E	481;388	ENSP00000408695:D481E	ENSP00000284384:D388E	D	+	3	2	PRKCA	62169259	0.996000	0.38824	0.966000	0.40874	0.981000	0.71138	0.451000	0.21779	0.033000	0.15463	0.655000	0.94253	GAC		0.478	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1		
AIPL1	23746	broad.mit.edu	37	17	6328962	6328962	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:6328962T>C	ENST00000381129.3	-	6	1053	c.973A>G	c.(973-975)Aac>Gac	p.N325D	AIPL1_ENST00000570466.1_Missense_Mutation_p.N303D|AIPL1_ENST00000576776.1_Missense_Mutation_p.N301D|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Missense_Mutation_p.N262D|AIPL1_ENST00000576307.1_Missense_Mutation_p.N265D|AIPL1_ENST00000574506.1_Missense_Mutation_p.N313D	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	325					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.N325D(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCAGCATGTTCCGGCAGCGC	0.682																																					p.N262D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A784G	17						.						81.0	71.0	74.0					17																	6328962		2203	4300	6503	6269686	SO:0001583	missense	23746	exon5			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.973A>G	17.37:g.6328962T>C	ENSP00000370521:p.Asn325Asp	Somatic		Capture	Illumina HiSeq	Phase_I	6269686	NM_001033054	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735017	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	D;D	0.89123	-2.47;-2.37	4.98	3.88	0.44766	.	0.363499	0.31922	N	0.006860	T	0.80497	0.4634	L	0.34521	1.04	0.80722	D	1	B;B;B;P;B	0.47910	0.079;0.017;0.097;0.902;0.017	B;B;B;B;B	0.37601	0.016;0.015;0.037;0.254;0.013	T	0.76865	-0.2801	10	0.39692	T	0.17	-33.7101	10.0619	0.42279	0.0:0.0:0.1697:0.8303	.	301;303;262;265;325	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	D	325;265;262	ENSP00000370521:N325D;ENSP00000250087:N262D	ENSP00000250087:N262D	N	-	1	0	AIPL1	6269686	0.973000	0.33851	0.996000	0.52242	0.382000	0.30200	2.466000	0.45084	0.709000	0.31976	0.379000	0.24179	AAC		0.682	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	
HELZ	9931	broad.mit.edu	37	17	65105718	65105718	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:65105718C>A	ENST00000358691.5	-	29	4169	c.4003G>T	c.(4003-4005)Gat>Tat	p.D1335Y	HELZ_ENST00000580168.1_Missense_Mutation_p.D1336Y	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1335						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1335Y(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTGAGATTATCTTTGCGAGGA	0.443																																					p.D1335Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4003T	17						.						185.0	182.0	183.0					17																	65105718		1944	4151	6095	62536180	SO:0001583	missense	9931	exon29			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4003G>T	17.37:g.65105718C>A	ENSP00000351524:p.Asp1335Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62536180	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315347	0.40996	.	.	ENSG00000198265	ENST00000358691	D	0.85556	-2.0	5.82	5.82	0.92795	.	0.090337	0.85682	D	0.000000	D	0.87633	0.6226	L	0.34521	1.04	0.58432	D	0.999994	D;D	0.58970	0.984;0.984	P;P	0.57371	0.819;0.819	D	0.88309	0.2955	10	0.72032	D	0.01	-16.4653	20.0939	0.97831	0.0:1.0:0.0:0.0	.	1336;1335	B7ZLW2;P42694	.;HELZ_HUMAN	Y	1335	ENSP00000351524:D1335Y	ENSP00000351524:D1335Y	D	-	1	0	HELZ	62536180	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.244000	0.65400	2.756000	0.94617	0.643000	0.83706	GAT		0.443	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
PITPNM3	83394	broad.mit.edu	37	17	6381375	6381375	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:6381375C>T	ENST00000262483.8	-	8	907	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PITPNM3_ENST00000421306.3_Missense_Mutation_p.D238N	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	274					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.D274N(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGATGGCATCGAAGGCCAGG	0.672																																					p.D238N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	17						.						55.0	60.0	59.0					17																	6381375		2203	4300	6503	6322099	SO:0001583	missense	83394	exon7			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.820G>A	17.37:g.6381375C>T	ENSP00000262483:p.Asp274Asn	Somatic		Capture	Illumina HiSeq	Phase_I	6322099	NM_001165966	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056964	0.93846	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.19669	2.13;2.13	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.79614	2.46	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;P	0.85130	0.997;0.886	T	0.52223	-0.8604	10	0.87932	D	0	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	238;274	F8WEW5;Q9BZ71	.;PITM3_HUMAN	N	274;238	ENSP00000262483:D274N;ENSP00000407882:D238N	ENSP00000262483:D274N	D	-	1	0	PITPNM3	6322099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.250000	0.78287	2.468000	0.83385	0.563000	0.77884	GAT		0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
PITPNC1	26207	broad.mit.edu	37	17	65574351	65574351	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:65574351A>G	ENST00000581322.1	+	5	344	c.344A>G	c.(343-345)gAc>gGc	p.D115G	PITPNC1_ENST00000299954.9_Missense_Mutation_p.D115G|PITPNC1_ENST00000335257.6_Missense_Mutation_p.D115G|PITPNC1_ENST00000580974.1_Missense_Mutation_p.D115G			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	115					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.D115G(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAGTATGAGGACAACAAAGGA	0.458																																					p.D115G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	17						.						67.0	68.0	67.0					17																	65574351		2015	4166	6181	63004813	SO:0001583	missense	26207	exon5			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.344A>G	17.37:g.65574351A>G	ENSP00000464006:p.Asp115Gly	Somatic		Capture	Illumina HiSeq	Phase_I	63004813	NM_181671	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883679	0.51908	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.41065	1.01;1.01	5.47	5.47	0.80525	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.58428	1.81	0.80722	D	1	D;D	0.65815	0.995;0.994	D;P	0.72338	0.977;0.903	T	0.57734	-0.7760	10	0.37606	T	0.19	-5.3233	15.4926	0.75619	1.0:0.0:0.0:0.0	.	115;115	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	G	115	ENSP00000335618:D115G;ENSP00000299954:D115G	ENSP00000299954:D115G	D	+	2	0	PITPNC1	63004813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.530000	0.90606	2.198000	0.70561	0.459000	0.35465	GAC		0.458	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	
FAM20A	54757	broad.mit.edu	37	17	66539829	66539829	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66539829G>T	ENST00000592554.1	-	5	1475	c.753C>A	c.(751-753)ttC>ttA	p.F251L	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_Nonsense_Mutation_p.E30*	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	251					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.F251L(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TGAAGTAGAAGAAGTCCACTG	0.522																																					p.F251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C753A	17						.						193.0	169.0	177.0					17																	66539829		2203	4300	6503	64051424	SO:0001583	missense	54757	exon5			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.753C>A	17.37:g.66539829G>T	ENSP00000468308:p.Phe251Leu	Somatic		Capture	Illumina HiSeq	Phase_I	64051424	NM_017565	B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178818	0.38511	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.36	4.39	0.52855	.	0.155825	0.64402	D	0.000019	T	0.37156	0.0993	L	0.46157	1.445	0.46149	D	0.998895	P	0.39282	0.666	B	0.30179	0.112	T	0.17258	-1.0375	9	0.13470	T	0.59	-35.6754	10.509	0.44851	0.1522:0.0:0.8478:0.0	.	251	Q96MK3	FA20A_HUMAN	L	251	.	ENSP00000226094:F251L	F	-	3	2	FAM20A	64051424	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	0.900000	0.28431	1.393000	0.46605	0.561000	0.74099	TTC		0.522	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	
KIAA0753	9851	broad.mit.edu	37	17	6498335	6498335	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:6498335G>A	ENST00000361413.3	-	16	2755	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	KIAA0753_ENST00000589033.1_Silent_p.I255I|KIAA0753_ENST00000572370.1_Silent_p.I500I|KIAA0753_ENST00000542606.1_Silent_p.I500I|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	799						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.I799I(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CAGCATATGCGATTTTATTAT	0.303																																					p.I799I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2397T	17						.						82.0	78.0	79.0					17																	6498335		1802	4074	5876	6439059	SO:0001819	synonymous_variant	9851	exon16				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2397C>T	17.37:g.6498335G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6439059	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	CCDS42247.1																																																																																				0.303	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA8	10351	broad.mit.edu	37	17	66864482	66864482	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66864482T>G	ENST00000269080.2	-	37	4744	c.4607A>C	c.(4606-4608)gAc>gCc	p.D1536A	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1576A|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1576A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1536					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D1536A(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTCCTCTAGGTCAAAGCTCTG	0.378																																					p.D1536A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4607C	17						.						106.0	100.0	102.0					17																	66864482		2203	4300	6503	64376077	SO:0001583	missense	10351	exon37			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4607A>C	17.37:g.66864482T>G	ENSP00000269080:p.Asp1536Ala	Somatic		Capture	Illumina HiSeq	Phase_I	64376077	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	9.416	1.081903	0.20309	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	T;T	0.75704	-0.96;-0.96	5.08	3.92	0.45320	.	0.391477	0.21170	N	0.078983	T	0.73776	0.3630	M	0.83118	2.625	0.31214	N	0.698306	B;B;B	0.31174	0.311;0.013;0.311	B;B;B	0.35813	0.211;0.06;0.211	T	0.72513	-0.4270	10	0.30078	T	0.28	.	7.2267	0.26020	0.0:0.0799:0.1472:0.7729	.	1576;1576;1536	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	A	1536;1576	ENSP00000269080:D1536A;ENSP00000402814:D1576A	ENSP00000269080:D1536A	D	-	2	0	ABCA8	64376077	0.975000	0.34042	0.252000	0.24328	0.484000	0.33280	1.751000	0.38339	2.032000	0.59987	0.533000	0.62120	GAC		0.378	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66903922	66903922	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66903922A>C	ENST00000269080.2	-	16	2254	c.2117T>G	c.(2116-2118)cTt>cGt	p.L706R	ABCA8_ENST00000586539.1_Missense_Mutation_p.L746R|ABCA8_ENST00000430352.2_Missense_Mutation_p.L746R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	706					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L706R(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTATAAATAAGTTTTCCTTC	0.313																																					p.L706R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2117G	17						.						149.0	143.0	145.0					17																	66903922		2203	4297	6500	64415517	SO:0001583	missense	10351	exon16			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2117T>G	17.37:g.66903922A>C	ENSP00000269080:p.Leu706Arg	Somatic		Capture	Illumina HiSeq	Phase_I	64415517	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.240725	0.58995	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.90788	-2.73;-2.73	4.9	4.9	0.64082	.	0.162147	0.28778	N	0.014161	D	0.96040	0.8710	M	0.91300	3.195	0.53005	D	0.999966	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.989;0.999;1.0	D	0.96837	0.9615	10	0.87932	D	0	.	13.8531	0.63510	1.0:0.0:0.0:0.0	.	685;746;746;746;706	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	R	706;746;685	ENSP00000269080:L706R;ENSP00000402814:L746R	ENSP00000269080:L706R	L	-	2	0	ABCA8	64415517	1.000000	0.71417	0.805000	0.32314	0.556000	0.35491	4.995000	0.63908	2.057000	0.61298	0.533000	0.62120	CTT		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
KIAA0753	9851	broad.mit.edu	37	17	6511782	6511782	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:6511782G>T	ENST00000361413.3	-	10	2073	c.1715C>A	c.(1714-1716)gCt>gAt	p.A572D	KIAA0753_ENST00000589033.1_Missense_Mutation_p.A28D|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A273D|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A273D|KIAA0753_ENST00000575027.1_5'Flank	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	572						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A572D(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TAGCCATGCAGCACTGAAATA	0.453																																					p.A572D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1715A	17						.						204.0	196.0	199.0					17																	6511782		1939	4140	6079	6452506	SO:0001583	missense	9851	exon10				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1715C>A	17.37:g.6511782G>T	ENSP00000355250:p.Ala572Asp	Somatic		Capture	Illumina HiSeq	Phase_I	6452506	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424502	0.43020	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.86769	-2.17;-2.17	5.06	4.07	0.47477	.	0.475871	0.22862	N	0.054725	D	0.91981	0.7460	M	0.76838	2.35	0.30140	N	0.804015	D	0.76494	0.999	D	0.74023	0.982	D	0.88078	0.2805	10	0.66056	D	0.02	-16.2747	10.0669	0.42308	0.0989:0.0:0.9011:0.0	.	572	Q2KHM9	K0753_HUMAN	D	572;273;28	ENSP00000355250:A572D;ENSP00000444634:A273D	ENSP00000355250:A572D	A	-	2	0	KIAA0753	6452506	0.999000	0.42202	0.972000	0.41901	0.094000	0.18550	3.007000	0.49536	2.520000	0.84964	0.467000	0.42956	GCT		0.453	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA9	10350	broad.mit.edu	37	17	66985954	66985954	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66985954C>A	ENST00000340001.4	-	30	4166	c.3955G>T	c.(3955-3957)Ggt>Tgt	p.G1319C	ABCA9_ENST00000453985.2_Splice_Site_p.G1281C|ABCA9_ENST00000370732.2_Splice_Site_p.G1319C|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1319	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1319C(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGTTTCCAACCTTTTTTAACA	0.353																																					p.G1319C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3955T	17						.						59.0	59.0	59.0					17																	66985954		2203	4300	6503	64497549	SO:0001630	splice_region_variant	10350	exon30			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3955+1G>T	17.37:g.66985954C>A		Somatic		Capture	Illumina HiSeq	Phase_I	64497549	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468794	0.84533	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	T;T	0.27104	1.69;1.69	4.99	4.99	0.66335	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.43110	U	0.000604	T	0.64670	0.2619	H	0.95712	3.71	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77351	-0.2620	9	.	.	.	.	17.2598	0.87066	0.0:1.0:0.0:0.0	.	1319;1319	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	C	1319;1264;1319	ENSP00000342216:G1319C;ENSP00000359767:G1319C	.	G	-	1	0	ABCA9	64497549	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.386000	0.66238	2.330000	0.79161	0.511000	0.50034	GGT		0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	Missense_Mutation
ABCA9	10350	broad.mit.edu	37	17	67023787	67023787	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67023787C>A	ENST00000340001.4	-	13	1996	c.1785G>T	c.(1783-1785)gaG>gaT	p.E595D	ABCA9_ENST00000453985.2_Missense_Mutation_p.E595D|ABCA9_ENST00000370732.2_Missense_Mutation_p.E595D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E595D(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATACCTCTTTCTCCACTTCAT	0.343																																					p.E595D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1785T	17						.						77.0	71.0	73.0					17																	67023787		2203	4300	6503	64535382	SO:0001583	missense	10350	exon13			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1785G>T	17.37:g.67023787C>A	ENSP00000342216:p.Glu595Asp	Somatic		Capture	Illumina HiSeq	Phase_I	64535382	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018214	0.07959	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;T;D	0.93488	-3.23;0.94;-3.23	5.1	-4.28	0.03732	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.268702	0.25683	N	0.028986	D	0.82282	0.5003	N	0.21617	0.685	0.36377	D	0.861669	B;B	0.16166	0.016;0.003	B;B	0.23275	0.045;0.03	T	0.62267	-0.6890	10	0.19590	T	0.45	.	4.6628	0.12650	0.2117:0.4373:0.0:0.351	.	595;595	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	D	595;578;595;590	ENSP00000342216:E595D;ENSP00000394264:E578D;ENSP00000359767:E595D	ENSP00000342216:E595D	E	-	3	2	ABCA9	64535382	0.000000	0.05858	0.238000	0.24106	0.093000	0.18481	-2.890000	0.00710	-0.961000	0.03609	-0.229000	0.12294	GAG		0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	67028279	67028279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67028279G>T	ENST00000340001.4	-	10	1626	c.1415C>A	c.(1414-1416)tCt>tAt	p.S472Y	ABCA9_ENST00000453985.2_Missense_Mutation_p.S472Y|ABCA9_ENST00000370732.2_Missense_Mutation_p.S472Y	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	472					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S472Y(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAATTCTGGAGACACTGGTTC	0.443																																					p.S472Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1415A	17						.						92.0	83.0	86.0					17																	67028279		2203	4300	6503	64539874	SO:0001583	missense	10350	exon10			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1415C>A	17.37:g.67028279G>T	ENSP00000342216:p.Ser472Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64539874	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976090	0.74360	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.24;-2.35	5.05	4.08	0.47627	.	0.138436	0.33040	N	0.005353	D	0.94624	0.8267	M	0.91920	3.255	0.34983	D	0.75423	D;D	0.60575	0.973;0.988	D;P	0.63877	0.919;0.823	D	0.97685	1.0175	10	0.66056	D	0.02	.	12.3702	0.55250	0.0827:0.0:0.9173:0.0	.	472;472	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	Y	472;455;472;467	ENSP00000342216:S472Y;ENSP00000359767:S472Y	ENSP00000342216:S472Y	S	-	2	0	ABCA9	64539874	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.001000	0.76297	1.258000	0.44101	0.609000	0.83330	TCT		0.443	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA10	10349	broad.mit.edu	37	17	67152980	67152980	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67152980C>T	ENST00000269081.4	-	29	4357	c.3448G>A	c.(3448-3450)Gtt>Att	p.V1150I	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1150					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1150I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AACCTGAAAACTGGGTCTTTA	0.244																																					p.V1150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3448A	17						.						30.0	30.0	30.0					17																	67152980		2200	4294	6494	64664575	SO:0001583	missense	10349	exon29			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3448G>A	17.37:g.67152980C>T	ENSP00000269081:p.Val1150Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64664575	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073344	0.08485	.	.	ENSG00000154263	ENST00000269081	D	0.86769	-2.17	3.18	-1.31	0.09230	.	0.274668	0.18996	U	0.125467	T	0.71298	0.3323	L	0.28274	0.84	0.36088	D	0.843253	B;B	0.23058	0.023;0.079	B;B	0.19946	0.013;0.027	T	0.54316	-0.8312	10	0.15952	T	0.53	.	3.527	0.07762	0.3894:0.2666:0.0:0.3439	.	142;1150	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	I	1150	ENSP00000269081:V1150I	ENSP00000269081:V1150I	V	-	1	0	ABCA10	64664575	0.000000	0.05858	0.301000	0.25044	0.911000	0.54048	-2.857000	0.00728	-0.379000	0.07906	0.563000	0.77884	GTT		0.244	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA10	10349	broad.mit.edu	37	17	67197727	67197727	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67197727G>T	ENST00000269081.4	-	11	1998	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_ENST00000416101.2_Silent_p.I363I|ABCA10_ENST00000432313.2_Silent_p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	363					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I363I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338																																					p.I363I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089A	17						.						79.0	83.0	82.0					17																	67197727		2203	4298	6501	64709322	SO:0001819	synonymous_variant	10349	exon11			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1089C>A	17.37:g.67197727G>T		Somatic		Capture	Illumina HiSeq	Phase_I	64709322	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA10	10349	broad.mit.edu	37	17	67197806	67197806	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67197806T>G	ENST00000269081.4	-	11	1919	c.1010A>C	c.(1009-1011)aAa>aCa	p.K337T	ABCA10_ENST00000416101.2_Missense_Mutation_p.K337T|ABCA10_ENST00000432313.2_Missense_Mutation_p.K337T	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	337					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K337T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGGCCATCTTTATCTAATTA	0.299																																					p.K337T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1010C	17						.						36.0	38.0	37.0					17																	67197806		2195	4295	6490	64709401	SO:0001583	missense	10349	exon11			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1010A>C	17.37:g.67197806T>G	ENSP00000269081:p.Lys337Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64709401	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723225	0.48728	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.87256	-2.23;-2.02;-1.68	2.78	2.78	0.32641	.	0.532223	0.13255	U	0.401746	T	0.78375	0.4273	N	0.19112	0.55	0.80722	D	1	B	0.29301	0.241	B	0.29598	0.104	T	0.75659	-0.3241	10	0.66056	D	0.02	.	10.8846	0.46960	0.0:0.0:0.0:1.0	.	337	Q8WWZ4	ABCAA_HUMAN	T	337	ENSP00000269081:K337T;ENSP00000407772:K337T;ENSP00000387674:K337T	ENSP00000269081:K337T	K	-	2	0	ABCA10	64709401	0.000000	0.05858	0.006000	0.13384	0.066000	0.16364	0.206000	0.17375	1.135000	0.42183	0.416000	0.27883	AAA		0.299	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA5	23461	broad.mit.edu	37	17	67250486	67250486	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67250486C>A	ENST00000392676.3	-	32	4278	c.4214G>T	c.(4213-4215)aGt>aTt	p.S1405I	ABCA5_ENST00000588877.1_Missense_Mutation_p.S1405I|ABCA5_ENST00000392677.2_Missense_Mutation_p.S1406I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1405	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1405I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTCACTTGCACTCATTCCTTT	0.343																																					p.S1405I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4214T	17						.						141.0	137.0	138.0					17																	67250486		2203	4300	6503	64762081	SO:0001583	missense	23461	exon32			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4214G>T	17.37:g.67250486C>A	ENSP00000376443:p.Ser1405Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64762081	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662748	0.67700	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93547	-3.24;-3.24	5.98	3.68	0.42216	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.286916	0.35436	N	0.003216	D	0.92954	0.7758	L	0.55213	1.73	0.36974	D	0.893972	P	0.44281	0.831	P	0.48552	0.581	D	0.94891	0.8048	10	0.62326	D	0.03	.	13.859	0.63548	0.0:0.8563:0.0:0.1437	.	1405	Q8WWZ7	ABCA5_HUMAN	I	1406;1405	ENSP00000376444:S1406I;ENSP00000376443:S1405I	ENSP00000376443:S1405I	S	-	2	0	ABCA5	64762081	0.957000	0.32711	0.957000	0.39632	0.848000	0.48234	2.165000	0.42396	1.543000	0.49345	-0.140000	0.14226	AGT		0.343	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67250557	67250557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67250557C>A	ENST00000392676.3	-	32	4207	c.4143G>T	c.(4141-4143)caG>caT	p.Q1381H	ABCA5_ENST00000588877.1_Missense_Mutation_p.Q1381H|ABCA5_ENST00000392677.2_Missense_Mutation_p.Q1382H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1381	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1381H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGGGTTTATCTGAGGACAGT	0.358																																					p.Q1381H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4143T	17						.						115.0	111.0	112.0					17																	67250557		2203	4300	6503	64762152	SO:0001583	missense	23461	exon32			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4143G>T	17.37:g.67250557C>A	ENSP00000376443:p.Gln1381His	Somatic		Capture	Illumina HiSeq	Phase_I	64762152	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950876	0.73787	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.95918	-3.85;-3.85	5.98	1.31	0.21738	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000007	D	0.98273	0.9428	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97472	1.0041	9	.	.	.	.	9.8979	0.41329	0.0:0.5706:0.0:0.4294	.	1381	Q8WWZ7	ABCA5_HUMAN	H	1382;1381	ENSP00000376444:Q1382H;ENSP00000376443:Q1381H	.	Q	-	3	2	ABCA5	64762152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.122000	0.31295	0.442000	0.26555	0.655000	0.94253	CAG		0.358	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67286119	67286119	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67286119T>G	ENST00000392676.3	-	13	1730	c.1666A>C	c.(1666-1668)Aaa>Caa	p.K556Q	ABCA5_ENST00000588877.1_Missense_Mutation_p.K556Q|ABCA5_ENST00000392677.2_Missense_Mutation_p.K556Q			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	556	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K556Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCAATCATTTTTCTTGCTTCA	0.294																																					p.K556Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1666C	17						.						104.0	96.0	99.0					17																	67286119		2202	4294	6496	64797714	SO:0001583	missense	23461	exon13			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1666A>C	17.37:g.67286119T>G	ENSP00000376443:p.Lys556Gln	Somatic		Capture	Illumina HiSeq	Phase_I	64797714	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510555	0.44660	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94576	-3.46;-3.46	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.108155	0.39475	N	0.001352	D	0.88865	0.6553	N	0.17345	0.48	0.34311	D	0.685453	B;B	0.22480	0.063;0.07	B;B	0.31686	0.044;0.134	D	0.87543	0.2460	9	.	.	.	.	11.6495	0.51279	0.0:0.0:0.1481:0.8519	.	556;556	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	Q	556	ENSP00000376444:K556Q;ENSP00000376443:K556Q	.	K	-	1	0	ABCA5	64797714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	1.972000	0.57404	0.477000	0.44152	AAA		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67290798	67290798	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67290798C>A	ENST00000392676.3	-	11	1557	c.1493G>T	c.(1492-1494)aGa>aTa	p.R498I	ABCA5_ENST00000588877.1_Missense_Mutation_p.R498I|ABCA5_ENST00000392677.2_Missense_Mutation_p.R498I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	498	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R498I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTACTTACTTCTCAAAGCCTC	0.289																																					p.R498I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1493T	17						.						90.0	92.0	91.0					17																	67290798		2203	4299	6502	64802393	SO:0001583	missense	23461	exon11			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1493G>T	17.37:g.67290798C>A	ENSP00000376443:p.Arg498Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64802393	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380861	0.82792	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.42131	0.98;0.98	4.69	4.69	0.59074	ABC transporter-like (1);	0.000000	0.64402	D	0.000002	T	0.57989	0.2091	M	0.75085	2.285	0.80722	D	1	D;D	0.60160	0.984;0.987	P;P	0.60682	0.862;0.878	T	0.59857	-0.7375	9	.	.	.	.	10.7897	0.46426	0.0:0.9113:0.0:0.0887	.	498;498	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	498	ENSP00000376444:R498I;ENSP00000376443:R498I	.	R	-	2	0	ABCA5	64802393	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.556000	0.60775	2.299000	0.77371	0.462000	0.41574	AGA		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
MAP2K6	5608	broad.mit.edu	37	17	67515486	67515486	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67515486G>T	ENST00000590474.1	+	5	566	c.279G>T	c.(277-279)caG>caT	p.Q93H	MAP2K6_ENST00000589647.1_Missense_Mutation_p.Q37H	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.Q93H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCAGGAACAGAAACGGCTAC	0.488																																					p.Q93H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	17						.						151.0	140.0	144.0					17																	67515486		2203	4300	6503	65027081	SO:0001583	missense	5608	exon5			U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.279G>T	17.37:g.67515486G>T	ENSP00000468348:p.Gln93His	Somatic		Capture	Illumina HiSeq	Phase_I	65027081	NM_002758		Missense_Mutation	SNP	ENST00000590474.1	37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216159	0.79352	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.62	4.65	0.58169	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	0.64011	0.2560	L	0.41027	1.25	0.51767	D	0.999933	P;D;D	0.61697	0.599;0.99;0.99	P;D;D	0.63113	0.472;0.911;0.911	T	0.62459	-0.6850	8	.	.	.	-18.5351	12.8465	0.57833	0.0798:0.0:0.9202:0.0	.	123;93;93	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	H	93	.	.	Q	+	3	2	MAP2K6	65027081	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.889000	0.87307	1.513000	0.48852	0.655000	0.94253	CAG		0.488	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
TEKT1	83659	broad.mit.edu	37	17	6703444	6703444	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:6703444C>T	ENST00000338694.2	-	8	1288	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TEKT1_ENST00000535086.1_Missense_Mutation_p.E241K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	387						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E387K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CACAGCACTTCGTCGATATAA	0.547																																					p.E387K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	17						.						155.0	137.0	143.0					17																	6703444		2203	4300	6503	6644168	SO:0001583	missense	83659	exon8				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1159G>A	17.37:g.6703444C>T	ENSP00000341346:p.Glu387Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6644168	NM_053285	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485239	0.44147	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02606	4.23;4.23	5.63	3.58	0.41010	.	0.049319	0.85682	D	0.000000	T	0.04092	0.0114	L	0.46157	1.445	0.46044	D	0.998836	B	0.27166	0.17	B	0.28916	0.096	T	0.46048	-0.9219	10	0.24483	T	0.36	.	14.4084	0.67099	0.0:0.7093:0.2907:0.0	.	387	Q969V4	TEKT1_HUMAN	K	387;241	ENSP00000341346:E387K;ENSP00000444142:E241K	ENSP00000341346:E387K	E	-	1	0	TEKT1	6644168	0.993000	0.37304	0.864000	0.33941	0.465000	0.32709	3.222000	0.51223	0.800000	0.34041	0.655000	0.94253	GAA		0.547	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
KCNJ16	3773	broad.mit.edu	37	17	68129048	68129048	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:68129048G>T	ENST00000589377.1	+	2	983	c.820G>T	c.(820-822)Gat>Tat	p.D274Y	KCNJ16_ENST00000586462.1_Missense_Mutation_p.D313Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.D274Y|KCNJ16_ENST00000585558.1_Missense_Mutation_p.D309Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.D274Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.D274Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	274					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.D274Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGTAGCCAAAGATAACTTTGA	0.453																																					p.D274Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820T	17						.						135.0	133.0	134.0					17																	68129048		2203	4300	6503	65640643	SO:0001583	missense	3773	exon4			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.820G>T	17.37:g.68129048G>T	ENSP00000465967:p.Asp274Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	65640643	NM_170742		Missense_Mutation	SNP	ENST00000589377.1	37	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944125	0.53079	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94376	-3.41;-3.41;-3.41	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.159423	0.53938	D	0.000043	D	0.95940	0.8678	M	0.67397	2.05	0.58432	D	0.999993	D;D	0.76494	0.999;0.991	P;P	0.62184	0.899;0.641	D	0.94813	0.7980	9	.	.	.	.	19.9993	0.97404	0.0:0.0:1.0:0.0	.	274;274	A8K434;Q9NPI9	.;IRK16_HUMAN	Y	274	ENSP00000283936:D274Y;ENSP00000376439:D274Y;ENSP00000376438:D274Y	.	D	+	1	0	KCNJ16	65640643	1.000000	0.71417	0.996000	0.52242	0.220000	0.24768	7.874000	0.87199	2.823000	0.97156	0.650000	0.86243	GAT		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
COG1	9382	broad.mit.edu	37	17	71198000	71198000	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:71198000C>T	ENST00000299886.4	+	7	2114	c.2034C>T	c.(2032-2034)agC>agT	p.S678S		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	678					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S678S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TCCAGCAGAGCGTGATGGGCT	0.463																																					p.S678S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2034T	17						.						49.0	47.0	47.0					17																	71198000		2203	4300	6503	68709595	SO:0001819	synonymous_variant	9382	exon7				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2034C>T	17.37:g.71198000C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68709595	NM_018714	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																				0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
COG1	9382	broad.mit.edu	37	17	71199866	71199866	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:71199866G>A	ENST00000299886.4	+	9	2396	c.2316G>A	c.(2314-2316)atG>atA	p.M772I		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	772					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.M772I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TACAGGAGATGCTGAAAAGCT	0.428																																					p.M772I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2316A	17						.						152.0	144.0	147.0					17																	71199866		2203	4300	6503	68711461	SO:0001583	missense	9382	exon9				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2316G>A	17.37:g.71199866G>A	ENSP00000299886:p.Met772Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68711461	NM_018714	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418327	0.42918	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.20332	2.08;2.09	5.68	5.68	0.88126	.	0.105473	0.64402	D	0.000003	T	0.13114	0.0318	N	0.12569	0.235	0.37835	D	0.928856	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.14023	0.01;0.007;0.01	T	0.10474	-1.0628	10	0.38643	T	0.18	-33.7135	13.0384	0.58885	0.0746:0.0:0.9254:0.0	.	772;772;772	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	I	772	ENSP00000400111:M772I;ENSP00000299886:M772I	ENSP00000299886:M772I	M	+	3	0	COG1	68711461	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.301000	0.59086	2.838000	0.97847	0.655000	0.94253	ATG		0.428	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
C17orf80	55028	broad.mit.edu	37	17	71239108	71239108	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:71239108C>T	ENST00000535032.2	+	4	1808	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	C17orf80_ENST00000577615.1_Silent_p.F529F|C17orf80_ENST00000255557.4_Silent_p.F529F|C17orf80_ENST00000268942.8_Silent_p.F529F|C17orf80_ENST00000582793.1_Silent_p.F34F|C17orf80_ENST00000426147.2_Silent_p.F565F|RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000359042.2_Silent_p.F565F			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	565						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F565F(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGGATACTTCGTCCTGTGTT	0.468																																					p.F565F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1695T	17						.						186.0	138.0	154.0					17																	71239108		2203	4300	6503	68750703	SO:0001819	synonymous_variant	55028	exon5			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1695C>T	17.37:g.71239108C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68750703	NM_001100622	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	CCDS11694.1																																																																																				0.468	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
SDK2	54549	broad.mit.edu	37	17	71398248	71398248	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:71398248C>A	ENST00000392650.3	-	19	2517	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	SDK2_ENST00000388726.3_Missense_Mutation_p.E839D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	839	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.E839D(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATGGTAACCTCCTCTTCCT	0.597																																					p.E839D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2517T	17						.						93.0	73.0	80.0					17																	71398248		2203	4300	6503	68909843	SO:0001583	missense	54549	exon19			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2517G>T	17.37:g.71398248C>A	ENSP00000376421:p.Glu839Asp	Somatic		Capture	Illumina HiSeq	Phase_I	68909843	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232005	0.39399	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.54479	0.57;0.57;1.51	5.08	1.96	0.26148	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108665	0.64402	D	0.000007	T	0.34395	0.0896	L	0.28458	0.855	0.45490	D	0.998453	B;B	0.10296	0.002;0.003	B;B	0.15484	0.005;0.013	T	0.08617	-1.0713	10	0.33141	T	0.24	.	5.8911	0.18913	0.0:0.5709:0.1324:0.2968	.	839;839	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	D	463;839;839;15;839	ENSP00000376421:E839D;ENSP00000373378:E839D;ENSP00000407098:E15D	ENSP00000324967:E839D	E	-	3	2	SDK2	68909843	0.901000	0.30685	1.000000	0.80357	0.998000	0.95712	0.090000	0.15025	0.668000	0.31126	0.597000	0.82753	GAG		0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
TTYH2	94015	broad.mit.edu	37	17	72249275	72249275	+	Missense_Mutation	SNP	C	C	T	rs150383554		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:72249275C>T	ENST00000269346.4	+	12	1389	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	TTYH2_ENST00000441391.2_Missense_Mutation_p.R118C|TTYH2_ENST00000529107.1_Missense_Mutation_p.R418C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	439						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R439C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCCTGGCGCATGGCGGC	0.587																																					p.R439C												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1315T	17						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120.0	119.0	119.0		1315,352	4.5	1.0	17	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TTYH2	NM_032646.5,NM_052869.1	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	439/535,118/214	72249275	2,13004	2203	4300	6503	69760870	SO:0001583	missense	94015	exon12				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1315C>T	17.37:g.72249275C>T	ENSP00000269346:p.Arg439Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69760870	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483194	0.63962	0.0	2.33E-4	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.27890	2.63;2.43;1.64	4.51	4.51	0.55191	.	0.057445	0.64402	D	0.000009	T	0.51822	0.1697	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.66847	0.926;0.947	T	0.56025	-0.8047	10	0.87932	D	0	-36.4406	11.3903	0.49811	0.1812:0.8188:0.0:0.0	.	418;439	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	C	439;418;118	ENSP00000269346:R439C;ENSP00000433089:R418C;ENSP00000394576:R118C	ENSP00000269346:R439C	R	+	1	0	TTYH2	69760870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.163000	0.58183	2.318000	0.78349	0.561000	0.74099	CGC		0.587	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		
CD300LD	100131439	broad.mit.edu	37	17	72576145	72576145	+	Missense_Mutation	SNP	G	G	T	rs377130739		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:72576145G>T	ENST00000375352.1	-	4	661	c.581C>A	c.(580-582)tCt>tAt	p.S194Y		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	194					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S194Y(1)		large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCTCCTTCAAGACCTTCTTTG	0.542																																					p.S194Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581A	17						.						43.0	38.0	40.0					17																	72576145		1568	3582	5150	70087740	SO:0001583	missense	100131439	exon4				CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.581C>A	17.37:g.72576145G>T	ENSP00000364501:p.Ser194Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70087740	NM_001115152		Missense_Mutation	SNP	ENST00000375352.1	37	CCDS42379.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082480	0.36758	.	.	ENSG00000204345	ENST00000375352	T	0.04862	3.54	3.36	1.2	0.21068	.	1.146510	0.06925	U	0.810051	T	0.06962	0.0177	L	0.42245	1.32	0.09310	N	1	B	0.21821	0.061	B	0.13407	0.009	T	0.39563	-0.9608	10	0.87932	D	0	.	5.9771	0.19387	0.0:0.2112:0.5714:0.2174	.	194	Q6UXZ3	CLM4_HUMAN	Y	194	ENSP00000364501:S194Y	ENSP00000364501:S194Y	S	-	2	0	CD300LD	70087740	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.659000	0.24994	0.381000	0.24851	0.557000	0.71058	TCT		0.542	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152	
FDXR	2232	broad.mit.edu	37	17	72861039	72861039	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:72861039C>T	ENST00000293195.5	-	7	702	c.624G>A	c.(622-624)acG>acA	p.T208T	FDXR_ENST00000442102.2_Silent_p.T251T|FDXR_ENST00000582944.1_Silent_p.T200T|FDXR_ENST00000583917.1_Silent_p.T209T|FDXR_ENST00000420580.2_Silent_p.T168T|FDXR_ENST00000413947.2_Silent_p.T239T|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000455107.2_Silent_p.T164T|FDXR_ENST00000544854.1_Silent_p.T156T|FDXR_ENST00000581530.1_Silent_p.T214T	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	208					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.T214T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GGGCTGCCTTCGTGATGTCCG	0.592											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T208T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	17						.						97.0	81.0	86.0					17																	72861039		2203	4300	6503	70372634	SO:0001819	synonymous_variant	2232	exon7			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.624G>A	17.37:g.72861039C>T		Somatic	1140	Capture	Illumina HiSeq	Phase_I	70372634	NM_024417	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	CCDS58593.1																																																																																				0.592	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110	
ACADVL	37	broad.mit.edu	37	17	7127040	7127040	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7127040C>A	ENST00000356839.5	+	12	1439	c.1260C>A	c.(1258-1260)atC>atA	p.I420I	ACADVL_ENST00000350303.5_Silent_p.I398I|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Silent_p.I443I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	420	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.I420I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCAGCAAAATCTTTGGCTCGG	0.552																																					p.I420I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1260A	17						.						85.0	85.0	85.0					17																	7127040		2203	4300	6503	7067764	SO:0001819	synonymous_variant	37	exon12			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1260C>A	17.37:g.7127040C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7067764	NM_000018	B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	CCDS11090.1																																																																																				0.552	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018	
CTDNEP1	23399	broad.mit.edu	37	17	7149674	7149674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7149674C>T	ENST00000573600.1	-	6	797	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.E126K|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.E126K			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	126	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)	p.E126K(2)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCACCAGCTCGTACCACTGG	0.453																																					p.E126K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G376A	17						.						84.0	80.0	81.0					17																	7149674		2203	4300	6503	7090398	SO:0001583	missense	23399	exon6			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.376G>A	17.37:g.7149674C>T	ENSP00000461749:p.Glu126Lys	Somatic		Capture	Illumina HiSeq	Phase_I	7090398	NM_015343	D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912363	0.72983	.	.	ENSG00000175826	ENST00000318988	T	0.22539	1.95	4.86	4.86	0.63082	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.89095	3.005	0.80722	D	1	D	0.55800	0.973	P	0.52598	0.703	T	0.51911	-0.8645	10	0.46703	T	0.11	-16.5804	15.5281	0.75928	0.0:1.0:0.0:0.0	.	126	O95476	CNEP1_HUMAN	K	126	ENSP00000321732:E126K	ENSP00000321732:E126K	E	-	1	0	CTDNEP1	7090398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.476000	0.73587	2.522000	0.85027	0.655000	0.94253	GAG		0.453	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	
OTOP3	347741	broad.mit.edu	37	17	72939390	72939390	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:72939390C>T	ENST00000328801.4	+	4	637	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	213						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.L213F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GACCTGGGTGCTCTGGAAACA	0.572																																					p.L213F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637T	17						.						134.0	130.0	132.0					17																	72939390		2203	4300	6503	70450985	SO:0001583	missense	347741	exon4			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.637C>T	17.37:g.72939390C>T	ENSP00000328090:p.Leu213Phe	Somatic		Capture	Illumina HiSeq	Phase_I	70450985	NM_178233		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990458	0.54041	.	.	ENSG00000182938	ENST00000328801	T	0.12255	2.7	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000004	T	0.21921	0.0528	M	0.80982	2.52	0.44595	D	0.997568	B	0.24768	0.111	B	0.22386	0.039	T	0.02781	-1.1111	10	0.87932	D	0	-29.7546	14.3726	0.66852	0.0:1.0:0.0:0.0	.	213	Q7RTS5	OTOP3_HUMAN	F	213	ENSP00000328090:L213F	ENSP00000328090:L213F	L	+	1	0	OTOP3	70450985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.487000	0.53222	2.456000	0.83038	0.563000	0.77884	CTC		0.572	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
SLC2A4	6517	broad.mit.edu	37	17	7187813	7187813	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7187813G>A	ENST00000317370.8	+	7	1005	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SLC2A4_ENST00000571308.1_Missense_Mutation_p.R246H|SLC2A4_ENST00000424875.2_Missense_Mutation_p.R236H|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	246					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.R246H(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTCTGAAGCGCCTGACAGGC	0.637																																					p.R246H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	17						.						42.0	44.0	43.0					17																	7187813		2203	4300	6503	7128537	SO:0001583	missense	6517	exon7			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.737G>A	17.37:g.7187813G>A	ENSP00000320935:p.Arg246His	Somatic		Capture	Illumina HiSeq	Phase_I	7128537	NM_001042	Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789231	0.49997	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.76448	-1.02;-1.02	4.88	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.124816	0.51477	D	0.000087	T	0.75744	0.3891	M	0.90650	3.135	0.48040	D	0.999573	P;P	0.51933	0.484;0.949	B;B	0.37989	0.15;0.262	T	0.79642	-0.1718	10	0.59425	D	0.04	.	5.782	0.18312	0.2087:0.0:0.7913:0.0	.	246;236	P14672;F5H081	GTR4_HUMAN;.	H	246;236	ENSP00000320935:R246H;ENSP00000396887:R236H	ENSP00000320935:R246H	R	+	2	0	SLC2A4	7128537	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.296000	0.51802	2.535000	0.85469	0.655000	0.94253	CGC		0.637	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
YBX2	51087	broad.mit.edu	37	17	7194464	7194464	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7194464C>T	ENST00000007699.5	-	4	470	c.407G>A	c.(406-408)cGc>cAc	p.R136H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	136	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)	p.R136H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCCAACGCTGCGCAGAAACTT	0.507																																					p.R136H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	17						.						123.0	117.0	119.0					17																	7194464		2203	4300	6503	7135188	SO:0001583	missense	51087	exon4			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.407G>A	17.37:g.7194464C>T	ENSP00000007699:p.Arg136His	Somatic		Capture	Illumina HiSeq	Phase_I	7135188	NM_015982	D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086155	0.94100	.	.	ENSG00000006047	ENST00000007699	T	0.39056	1.1	5.63	5.63	0.86233	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.112791	0.64402	D	0.000011	T	0.67126	0.2860	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69529	-0.5121	10	0.87932	D	0	-18.4991	17.5578	0.87897	0.0:1.0:0.0:0.0	.	136	Q9Y2T7	YBOX2_HUMAN	H	136	ENSP00000007699:R136H	ENSP00000007699:R136H	R	-	2	0	YBX2	7135188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.634000	0.74290	2.826000	0.97356	0.655000	0.94253	CGC		0.507	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982	
RECQL5	9400	broad.mit.edu	37	17	73661172	73661172	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:73661172C>A	ENST00000317905.5	-	3	370	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	RECQL5_ENST00000423245.2_Splice_Site|SAP30BP_ENST00000355423.3_5'Flank|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000420326.2_Missense_Mutation_p.G71C|RECQL5_ENST00000584999.1_Missense_Mutation_p.G71C|RECQL5_ENST00000340830.5_Missense_Mutation_p.G71C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	71	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGGTGATGCCTTTGGCCAAC	0.473								Other identified genes with known or suspected DNA repair function																													p.G71C												.	.	1	Unknown(1)	large_intestine(1)	c.G211T	17						.						213.0	193.0	200.0					17																	73661172		2203	4300	6503	71172767	SO:0001583	missense	9400	exon3			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.211G>T	17.37:g.73661172C>A	ENSP00000317636:p.Gly71Cys	Somatic		Capture	Illumina HiSeq	Phase_I	71172767	NM_001003716	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197817	0.79015	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.16457	2.34;2.34;2.34	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	M	0.90922	3.16	0.80722	D	1	D;P	0.67145	0.996;0.82	D;P	0.72338	0.977;0.665	T	0.57780	-0.7752	10	0.49607	T	0.09	-25.5792	20.6439	0.99570	0.0:1.0:0.0:0.0	.	71;71	O94762;O94762-3	RECQ5_HUMAN;.	C	71	ENSP00000317636:G71C;ENSP00000414933:G71C;ENSP00000341983:G71C	ENSP00000317636:G71C	G	-	1	0	RECQL5	71172767	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GGC		0.473	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
GPS2	2874	broad.mit.edu	37	17	7216434	7216434	+	Missense_Mutation	SNP	G	G	A	rs192050225		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7216434G>A	ENST00000380728.2	-	10	1114	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	GPS2_ENST00000391950.3_Missense_Mutation_p.R272C|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Missense_Mutation_p.R272C			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	272					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.R272C(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGCATGGGGCGCAGAGAGGAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19372	0.0		0.001	False		,,,				2504	0.0				p.R272C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814T	17						.						64.0	74.0	70.0					17																	7216434		2203	4300	6503	7157158	SO:0001583	missense	2874	exon10			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.814C>T	17.37:g.7216434G>A	ENSP00000370104:p.Arg272Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7157158	NM_004489	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.46	2.540970	0.45280	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.55588	0.51;0.51	4.74	4.74	0.60224	.	0.066295	0.56097	N	0.000033	T	0.58380	0.2118	N	0.17082	0.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.65651	-0.6116	10	0.87932	D	0	-4.4764	16.6678	0.85257	0.0:0.0:1.0:0.0	.	272	Q13227	GPS2_HUMAN	C	272	ENSP00000370104:R272C;ENSP00000379841:R272C	ENSP00000319371:R272C	R	-	1	0	GPS2	7157158	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.463000	0.60128	2.459000	0.83118	0.655000	0.94253	CGC		0.577	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	
NEURL4	84461	broad.mit.edu	37	17	7221410	7221410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7221410C>T	ENST00000399464.2	-	25	4049	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000391950.3_5'Flank|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.A159T|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.R1321H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1343H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1345						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R1345H(1)|p.R1343H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTTGGAAGCGAGAGCAAAG	0.597																																					p.R1345H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4034A	17						.						110.0	120.0	116.0					17																	7221410		2063	4209	6272	7162134	SO:0001583	missense	84461	exon25				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4034G>A	17.37:g.7221410C>T	ENSP00000382390:p.Arg1345His	Somatic		Capture	Illumina HiSeq	Phase_I	7162134	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505116	0.85282	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35973	1.28;1.28	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.75264	2.295	0.40379	D	0.979427	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.66101	-0.6007	10	0.72032	D	0.01	-13.4615	17.2912	0.87157	0.0:1.0:0.0:0.0	.	1343;1345	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	1343;1345	ENSP00000319826:R1343H;ENSP00000382390:R1345H	ENSP00000319826:R1343H	R	-	2	0	NEURL4	7162134	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	4.993000	0.63895	2.620000	0.88729	0.305000	0.20034	CGC		0.597	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
NEURL4	84461	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	569	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R569C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1705T	17						.						199.0	210.0	206.0					17																	7228226		2180	4275	6455	7168950	SO:0001583	missense	84461	exon9				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1705C>T	17.37:g.7228226G>A	ENSP00000382390:p.Arg569Cys	Somatic	640	Capture	Illumina HiSeq	Phase_I	7168950	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	NEURL4	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC		0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
SRP68	6730	broad.mit.edu	37	17	74035901	74035901	+	Missense_Mutation	SNP	G	G	T	rs375515786		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:74035901G>T	ENST00000307877.2	-	16	1931	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	SRP68_ENST00000602720.1_Missense_Mutation_p.F251L|SRP68_ENST00000355113.5_Missense_Mutation_p.F489L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.F552L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	590					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.F590L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCAGGTCAAAGAACAAAGGCT	0.537																																					p.F590L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1770A	17						.	G	LEU/PHE	0,4406		0,0,2203	107.0	84.0	92.0		1770	1.7	1.0	17		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRP68	NM_014230.2	22	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	590/628	74035901	1,13005	2203	4300	6503	71547496	SO:0001583	missense	6730	exon16			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1770C>A	17.37:g.74035901G>T	ENSP00000312066:p.Phe590Leu	Somatic		Capture	Illumina HiSeq	Phase_I	71547496	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371477	0.82573	0.0	1.16E-4	ENSG00000167881	ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.85	1.72	0.24424	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	M	0.89214	3.015	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.80764	0.979;0.994	T	0.75099	-0.3437	9	0.20046	T	0.44	-28.353	10.8832	0.46951	0.2481:0.0:0.7519:0.0	.	552;590	G3V1U4;Q9UHB9	.;SRP68_HUMAN	L	552;251;590;559;489	.	ENSP00000307756:F559L	F	-	3	2	SRP68	71547496	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	4.594000	0.61041	0.118000	0.18165	-0.794000	0.03295	TTC		0.537	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230	
ST6GALNAC1	55808	broad.mit.edu	37	17	74625118	74625118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:74625118G>T	ENST00000156626.7	-	2	1006	c.807C>A	c.(805-807)agC>agA	p.S269R	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	269					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.S269R(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTATTTCGAAGCTGTATTTTT	0.572																																					p.S269R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C807A	17						.						69.0	71.0	70.0					17																	74625118		2203	4300	6503	72136713	SO:0001583	missense	55808	exon2			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.807C>A	17.37:g.74625118G>T	ENSP00000156626:p.Ser269Arg	Somatic		Capture	Illumina HiSeq	Phase_I	72136713	NM_018414	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.020069	0.07634	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.25414	1.83;1.8	4.72	-1.29	0.09288	.	0.321366	0.31279	N	0.007939	T	0.10508	0.0257	L	0.34521	1.04	0.18873	N	0.999989	P	0.35050	0.482	B	0.27262	0.078	T	0.19128	-1.0315	10	0.16420	T	0.52	-34.9486	1.8196	0.03108	0.2938:0.1015:0.4274:0.1773	.	269	Q9NSC7	SIA7A_HUMAN	R	269	ENSP00000156626:S269R;ENSP00000351991:S269R	ENSP00000156626:S269R	S	-	3	2	ST6GALNAC1	72136713	0.007000	0.16637	0.030000	0.17652	0.106000	0.19336	-0.021000	0.12504	-0.046000	0.13446	-0.258000	0.10820	AGC		0.572	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414	
MXRA7	439921	broad.mit.edu	37	17	74673706	74673706	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:74673706G>A	ENST00000355797.3	-	4	587	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	193						integral component of membrane (GO:0016021)		p.G193G(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CCTGCACGTCGCCGTCGGACA	0.577																																					p.G193G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	17						.						137.0	115.0	122.0					17																	74673706		2203	4300	6503	72185301	SO:0001819	synonymous_variant	439921	exon4			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.579C>T	17.37:g.74673706G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72185301	NM_001008528	Q0P5W3	Silent	SNP	ENST00000355797.3	37	CCDS32745.1																																																																																				0.577	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529	
CHRNB1	1140	broad.mit.edu	37	17	7349403	7349403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7349403G>T	ENST00000306071.2	+	3	281	c.214G>T	c.(214-216)Gag>Tag	p.E72*	RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_5'UTR|CHRNB1_ENST00000536404.2_5'UTR|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	72					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.E72*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GAAGGATGAAGAGATGAGCAC	0.517																																					p.E72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G214T	17						.						74.0	74.0	74.0					17																	7349403		2203	4300	6503	7290127	SO:0001587	stop_gained	1140	exon3			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.214G>T	17.37:g.7349403G>T	ENSP00000304290:p.Glu72*	Somatic		Capture	Illumina HiSeq	Phase_I	7290127	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	ENST00000306071.2	37	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066373	0.93898	.	.	ENSG00000170175	ENST00000306071	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.3721	0.66846	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000304290:E72X	E	+	1	0	CHRNB1	7290127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.510000	0.73729	2.773000	0.95371	0.585000	0.79938	GAG		0.517	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
JMJD6	23210	broad.mit.edu	37	17	74721828	74721828	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:74721828G>T	ENST00000397625.4	-	2	353	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.S80Y|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.S80Y	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	80					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S80Y(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTCCTGCGCAGACCAGCCCTC	0.483																																					p.S80Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239A	17						.						120.0	114.0	116.0					17																	74721828		1898	4131	6029	72233423	SO:0001583	missense	23210	exon2			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.239C>A	17.37:g.74721828G>T	ENSP00000380750:p.Ser80Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	72233423	NM_015167	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413767	0.62511	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.71341	-0.56;-0.56	5.66	5.66	0.87406	.	0.107775	0.64402	D	0.000003	T	0.67078	0.2855	L	0.39898	1.24	0.51482	D	0.999926	P;P;P	0.49090	0.919;0.826;0.884	B;B;B	0.41917	0.204;0.051;0.37	T	0.71679	-0.4520	10	0.66056	D	0.02	-29.6473	19.7472	0.96257	0.0:0.0:1.0:0.0	.	80;80;80	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	Y	80	ENSP00000394085:S80Y;ENSP00000380750:S80Y	ENSP00000302916:S80Y	S	-	2	0	JMJD6	72233423	1.000000	0.71417	0.996000	0.52242	0.328000	0.28507	7.880000	0.87243	2.653000	0.90120	0.561000	0.74099	TCT		0.483	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167	
SLC35G6	643664	broad.mit.edu	37	17	7385420	7385420	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7385420C>T	ENST00000412468.2	+	2	232	c.117C>T	c.(115-117)ggC>ggT	p.G39G	ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	39						integral component of membrane (GO:0016021)		p.G39G(1)									CCACCAATGGCCTGCTGGTGG	0.672																																					p.G39G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	17						.						42.0	48.0	46.0					17																	7385420		2203	4299	6502	7326144	SO:0001819	synonymous_variant	643664	exon2				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.117C>T	17.37:g.7385420C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7326144	NM_001102614		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.672	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614	
POLR2A	5430	broad.mit.edu	37	17	7416472	7416472	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7416472C>A	ENST00000322644.6	+	29	5288	c.4889C>A	c.(4888-4890)tCt>tAt	p.S1630Y		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1630	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.S1630Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCATCCTATTCTCCAACCAGT	0.592																																					p.S1630Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4889A	17						.						300.0	298.0	299.0					17																	7416472		2203	4300	6503	7357196	SO:0001583	missense	5430	exon29					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4889C>A	17.37:g.7416472C>A	ENSP00000314949:p.Ser1630Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7357196	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892920	0.33442	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.74002	-0.8	3.71	3.71	0.42584	.	0.177457	0.35407	N	0.003224	D	0.88097	0.6345	M	0.94142	3.5	0.80722	D	1	P	0.50943	0.94	P	0.59595	0.86	D	0.91768	0.5425	10	0.87932	D	0	-9.7853	14.8035	0.69935	0.0:1.0:0.0:0.0	.	1630	P24928	RPB1_HUMAN	Y	1586;529;1630	ENSP00000314949:S1630Y	ENSP00000314949:S1630Y	S	+	2	0	SLC35G6	7357196	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.670000	0.61583	2.070000	0.61991	0.456000	0.33151	TCT		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
SEPT9	10801	broad.mit.edu	37	17	75398150	75398150	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:75398150G>T	ENST00000427177.1	+	3	212	c.86G>T	c.(85-87)aGa>aTa	p.R29I	SEPT9_ENST00000329047.8_Missense_Mutation_p.R11I|SEPT9_ENST00000592420.1_5'Flank|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R11I|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R22I|SEPT9_ENST00000591198.1_Missense_Mutation_p.R10I|SEPT9_ENST00000449803.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	29					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R11I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCCTTGAAAAGATCTTTTGAG	0.552																																					p.R22I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65T	17						.						38.0	42.0	41.0					17																	75398150		2009	4156	6165	72909745	SO:0001583	missense	10801	exon2			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.86G>T	17.37:g.75398150G>T	ENSP00000391249:p.Arg29Ile	Somatic		Capture	Illumina HiSeq	Phase_I	72909745	NM_001113493	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705803	0.89018	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.59638	0.39;0.45;0.25	4.89	4.89	0.63831	.	660.968000	0.00597	U	0.000371	T	0.73845	0.3639	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.57866	-0.7737	10	0.87932	D	0	.	17.0435	0.86496	0.0:0.0:1.0:0.0	.	10;22;11;29	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	I	29;11;22	ENSP00000391249:R29I;ENSP00000329161:R11I;ENSP00000405877:R22I	ENSP00000329161:R11I	R	+	2	0	SEPT9	72909745	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.989000	0.93506	2.262000	0.75019	0.555000	0.69702	AGA		0.552	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
PGS1	9489	broad.mit.edu	37	17	76423182	76423182	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:76423182G>A	ENST00000262764.6	+	0	2201				DNAH17_ENST00000389840.5_Missense_Mutation_p.A4222V|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A4194V	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.A4194V(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GTCCAGCACGGCCTTCACCTG	0.597																																					p.A4199V	Esophageal Squamous(45;182 1126 10685 43198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12596T	17						.						29.0	23.0	25.0					17																	76423182		2195	4282	6477	73934777	SO:0001628	intergenic_variant	0	exon78				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76423182G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73934777	NM_173628	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	IGR	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947880	0.18356	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09445	2.98	4.99	3.95	0.45737	.	0.248644	0.28521	N	0.015055	T	0.13756	0.0333	M	0.70787	2.145	0.09310	N	1	B	0.20459	0.045	B	0.24848	0.056	T	0.08330	-1.0727	10	0.30078	T	0.28	.	10.0072	0.41964	0.0:0.1491:0.6965:0.1543	.	4194	E7EUM8	.	V	4194;4222	ENSP00000374490:A4222V	ENSP00000300671:A4194V	A	-	2	0	DNAH17	73934777	0.296000	0.24398	0.989000	0.46669	0.458000	0.32498	3.175000	0.50855	2.319000	0.78375	0.655000	0.94253	GCC		0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	
DNAH17	8632	broad.mit.edu	37	17	76554283	76554283	+	Missense_Mutation	SNP	C	C	A	rs147180345		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:76554283C>A	ENST00000585328.1	-	14	2209	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D	DNAH17_ENST00000389840.5_Missense_Mutation_p.E695D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	695	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E695D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGTCTGGAATCTCTTTCTGTT	0.448																																					p.E695D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2085T	17						.						99.0	80.0	87.0					17																	76554283		2203	4300	6503	74065878	SO:0001583	missense	0	exon14			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2085G>T	17.37:g.76554283C>A	ENSP00000465516:p.Glu695Asp	Somatic		Capture	Illumina HiSeq	Phase_I	74065878	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.230434	0.00280	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57107	0.42	5.14	-3.87	0.04218	.	1.990120	0.02951	N	0.141748	T	0.19846	0.0477	N	0.02315	-0.6	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	10	0.02654	T	1	.	3.7236	0.08466	0.0919:0.3136:0.3579:0.2366	.	397	Q9UFH2-4	.	D	695	ENSP00000374490:E695D	ENSP00000300671:E695D	E	-	3	2	DNAH17	74065878	0.062000	0.20869	0.007000	0.13788	0.256000	0.26092	-1.267000	0.02839	-0.913000	0.03832	-2.157000	0.00329	GAG		0.448	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
USP36	57602	broad.mit.edu	37	17	76794563	76794563	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:76794563C>T	ENST00000542802.3	-	20	3754	c.3311G>A	c.(3310-3312)cGa>cAa	p.R1104Q	USP36_ENST00000312010.6_Missense_Mutation_p.R1104Q|USP36_ENST00000449938.2_Missense_Mutation_p.R709Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1102					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R1104Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAAGTTCCGTCGAGTCTGAAG	0.507																																					p.R1104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3311A	17						.						173.0	169.0	170.0					17																	76794563		2203	4300	6503	74306158	SO:0001583	missense	57602	exon20			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3311G>A	17.37:g.76794563C>T	ENSP00000441214:p.Arg1104Gln	Somatic		Capture	Illumina HiSeq	Phase_I	74306158	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.612073	0.46631	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.22539	3.1;1.95;3.1	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.71581	2.175	0.31972	N	0.607029	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.894	T	0.52155	-0.8613	10	0.46703	T	0.11	-18.6237	10.6395	0.45584	0.0:0.9075:0.0:0.0925	.	1104;709	Q9P275-2;E9PEW0	.;.	Q	1104;709;1104	ENSP00000310590:R1104Q;ENSP00000401119:R709Q;ENSP00000441214:R1104Q	ENSP00000310590:R1104Q	R	-	2	0	USP36	74306158	1.000000	0.71417	0.999000	0.59377	0.254000	0.26022	3.616000	0.54174	2.209000	0.71365	0.450000	0.29827	CGA		0.507	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
SAT2	112483	broad.mit.edu	37	17	7530305	7530305	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7530305C>T	ENST00000269298.5	-	4	479	c.260G>A	c.(259-261)cGc>cAc	p.R87H	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	87	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.R87H(1)|p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ATAAATGGTGCGTCCCTTCCA	0.542																																					p.R87H												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G260A	17						.						77.0	75.0	76.0					17																	7530305		2203	4300	6503	7471030	SO:0001583	missense	112483	exon4			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.260G>A	17.37:g.7530305C>T	ENSP00000269298:p.Arg87His	Somatic		Capture	Illumina HiSeq	Phase_I	7471030	NM_133491		Missense_Mutation	SNP	ENST00000269298.5	37	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084339	0.55861	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.23950	1.88	5.75	4.75	0.60458	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.131188	0.52532	D	0.000061	T	0.40645	0.1125	L	0.49699	1.58	0.24992	N	0.991524	D	0.89917	1.0	D	0.69824	0.966	T	0.17561	-1.0365	10	0.38643	T	0.18	-28.7125	9.9977	0.41909	0.0:0.9022:0.0:0.0978	.	87	Q96F10	SAT2_HUMAN	H	166;87	ENSP00000269298:R87H	ENSP00000269298:R87H	R	-	2	0	SAT2	7471030	0.058000	0.20735	0.086000	0.20670	0.294000	0.27393	1.749000	0.38319	1.363000	0.46019	0.557000	0.71058	CGC		0.542	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491	
SHBG	6462	broad.mit.edu	37	17	7533565	7533565	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7533565C>T	ENST00000380450.4	+	1	106	c.75C>T	c.(73-75)cgC>cgT	p.R25R	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575903.1_Silent_p.R25R|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000416273.3_Silent_p.R25R|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000441599.2_Silent_p.R25R	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	25			R -> H (in dbSNP:rs6260). {ECO:0000269|PubMed:10391209}.		primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.R25R(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GTCACACCCGCCAGGGATGGG	0.632																																					p.R25R												.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C75T	17						.						63.0	50.0	54.0					17																	7533565		2203	4300	6503	7474290	SO:0001819	synonymous_variant	6462	exon1				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.75C>T	17.37:g.7533565C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7474290	NM_001040	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	CCDS11117.1																																																																																				0.632	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040	
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	rs138729528		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7578407G>A	ENST00000269305.4	-	5	712	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_ENST00000413465.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000420246.2_Missense_Mutation_p.R175C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15591	0.0		0.0	False		,,,				2504	0.001				p.R175C	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,+1 	.	93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	c.C523T	17	GRCh37	CM011013	TP53	M	rs138729528	.						50.0	50.0	50.0					17																	7578407		2203	4300	6503	7519132	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>T	17.37:g.7578407G>A	ENSP00000269305:p.Arg175Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7519132	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778621	0.70107	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99837	0.9926	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.998;0.989;1.0	D	0.98336	1.0536	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175C;ENSP00000352610:R175C;ENSP00000269305:R175C;ENSP00000398846:R175C;ENSP00000391127:R175C;ENSP00000391478:R175C;ENSP00000425104:R43C;ENSP00000423862:R82C	ENSP00000269305:R175C	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
C1QTNF1	114897	broad.mit.edu	37	17	77043963	77043963	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:77043963G>T	ENST00000339142.2	+	5	1194	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K213N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K213N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K223N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K213N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K131N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K213N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K213N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K131N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K213N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	213	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.K131N(1)|p.K213N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ACATCATGAAGAACGAGGAGG	0.577																																					p.K131N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G393T	17						.						173.0	141.0	152.0					17																	77043963		2203	4300	6503	74555558	SO:0001583	missense	114897	exon3			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.639G>T	17.37:g.77043963G>T	ENSP00000340864:p.Lys213Asn	Somatic		Capture	Illumina HiSeq	Phase_I	74555558	NM_198594	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766591	0.49574	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	3.71	0.42584	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.924705	0.08934	N	0.872608	D	0.90092	0.6905	M	0.92738	3.34	0.45979	D	0.998798	D;D;P	0.53151	0.958;0.958;0.776	P;P;P	0.60473	0.821;0.875;0.653	D	0.87012	0.2123	10	0.66056	D	0.02	.	13.8092	0.63252	0.0:0.3651:0.6349:0.0	.	223;223;213	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	213;131;223;213;223	ENSP00000340864:K213N;ENSP00000311265:K131N;ENSP00000343230:K223N	ENSP00000311265:K131N	K	+	3	2	C1QTNF1	74555558	0.202000	0.23423	0.920000	0.36463	0.888000	0.51559	0.393000	0.20817	0.928000	0.37168	0.561000	0.74099	AAG		0.577	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
CBX8	57332	broad.mit.edu	37	17	77768438	77768438	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:77768438C>A	ENST00000269385.4	-	5	1283	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	389					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.R389I(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGCATTCATCTTTTCTCTTT	0.488																																					p.R389I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1166T	17						.						160.0	176.0	170.0					17																	77768438		2203	4300	6503	75383033	SO:0001583	missense	57332	exon5			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1166G>T	17.37:g.77768438C>A	ENSP00000269385:p.Arg389Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75383033	NM_020649	Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	c	29.5	5.008032	0.93287	.	.	ENSG00000141570	ENST00000269385	T	0.71222	-0.55	5.15	5.15	0.70609	.	0.232690	0.42964	D	0.000639	T	0.81654	0.4868	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.83212	-0.0073	10	0.87932	D	0	-19.0863	19.0618	0.93096	0.0:1.0:0.0:0.0	.	389	Q9HC52	CBX8_HUMAN	I	389	ENSP00000269385:R389I	ENSP00000269385:R389I	R	-	2	0	CBX8	75383033	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.559000	0.60796	2.572000	0.86782	0.537000	0.68136	AGA		0.488	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649	
RNF213	57674	broad.mit.edu	37	17	78316961	78316961	+	Missense_Mutation	SNP	G	G	A	rs369925564		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:78316961G>A	ENST00000582970.1	+	27	6162	c.6019G>A	c.(6019-6021)Gac>Aac	p.D2007N	RNF213_ENST00000336301.6_Missense_Mutation_p.D80N|RNF213_ENST00000508628.2_Missense_Mutation_p.D2056N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2007					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D80N(1)|p.D2056N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGGTTGCACGACAAAATGAA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18752	0.001		0.0	False		,,,				2504	0.0				p.D2056N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6166A	17						.	G	ASN/ASP	0,4406		0,0,2203	77.0	72.0	74.0		6166	-4.2	0.0	17		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF213	NM_020914.4	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2056/5257	78316961	1,13005	2203	4300	6503	75931556	SO:0001583	missense	57674	exon28			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6019G>A	17.37:g.78316961G>A	ENSP00000464087:p.Asp2007Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75931556	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817434	0.32145	0.0	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25250	1.81	5.94	-4.21	0.03812	.	2.746670	0.00857	N	0.001886	T	0.14442	0.0349	L	0.29908	0.895	0.09310	N	1	P	0.34955	0.477	B	0.18871	0.023	T	0.18903	-1.0322	10	0.30078	T	0.28	.	7.0957	0.25309	0.4322:0.2093:0.3585:0.0	.	80	Q63HN8	RN213_HUMAN	N	2007;2056;80	ENSP00000338218:D80N	ENSP00000338218:D80N	D	+	1	0	RNF213	75931556	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.000000	0.12993	-0.420000	0.07427	-0.145000	0.13849	GAC		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
DNAH2	146754	broad.mit.edu	37	17	7667450	7667450	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7667450G>A	ENST00000572933.1	+	20	4655	c.3195G>A	c.(3193-3195)ccG>ccA	p.P1065P	DNAH2_ENST00000389173.2_Silent_p.P1065P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1065	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P1065P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGCCCTCCGCAGACACTGG	0.642																																					p.P1065P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3195A	17						.						82.0	77.0	79.0					17																	7667450		2203	4300	6503	7608175	SO:0001819	synonymous_variant	146754	exon19			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3195G>A	17.37:g.7667450G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7608175	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.642	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7681676	7681676	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7681676C>T	ENST00000572933.1	+	35	6890	c.5430C>T	c.(5428-5430)acC>acT	p.T1810T	DNAH2_ENST00000389173.2_Silent_p.T1810T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1810	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1810T(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCAAGACCGAGACCGTCA	0.572																																					p.T1810T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5430T	17						.						65.0	60.0	62.0					17																	7681676		2203	4300	6503	7622401	SO:0001819	synonymous_variant	146754	exon34			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5430C>T	17.37:g.7681676C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7622401	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7699901	7699901	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7699901C>T	ENST00000572933.1	+	50	9254	c.7794C>T	c.(7792-7794)acC>acT	p.T2598T	DNAH2_ENST00000389173.2_Silent_p.T2598T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2598	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2598T(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTACAACACCGTGGTACAGC	0.552																																					p.T2598T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7794T	17						.						168.0	132.0	144.0					17																	7699901		2203	4300	6503	7640626	SO:0001819	synonymous_variant	146754	exon49			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7794C>T	17.37:g.7699901C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7640626	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7704950	7704950	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7704950C>A	ENST00000572933.1	+	57	10214	c.8754C>A	c.(8752-8754)ttC>ttA	p.F2918L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F2918L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2918	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2918L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAACTGGTTCTCAGAGTGGC	0.577																																					p.F2918L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8754A	17						.						155.0	147.0	149.0					17																	7704950		2203	4300	6503	7645675	SO:0001583	missense	146754	exon56			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8754C>A	17.37:g.7704950C>A	ENSP00000458355:p.Phe2918Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7645675	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676921	0.67928	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40756	1.02	5.37	5.37	0.77165	Dynein heavy chain, P-loop containing D4 domain (1);	0.055887	0.64402	N	0.000001	T	0.61476	0.2350	M	0.90870	3.155	0.80722	D	1	B	0.32324	0.364	P	0.44811	0.461	T	0.66404	-0.5932	10	0.54805	T	0.06	.	11.3736	0.49715	0.0:0.9153:0.0:0.0847	.	2918	Q9P225	DYH2_HUMAN	L	2918	ENSP00000373825:F2918L	ENSP00000353818:F2918L	F	+	3	2	DNAH2	7645675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.926000	0.40084	2.522000	0.85027	0.585000	0.79938	TTC		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7705025	7705025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7705025G>T	ENST00000572933.1	+	57	10289	c.8829G>T	c.(8827-8829)gaG>gaT	p.E2943D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2943D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2943	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2943D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAACTCAGGAGAATGTGAGcc	0.612																																					p.E2943D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8829T	17						.						89.0	70.0	76.0					17																	7705025		2203	4300	6503	7645750	SO:0001583	missense	146754	exon56			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8829G>T	17.37:g.7705025G>T	ENSP00000458355:p.Glu2943Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7645750	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355866	0.41700	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.37584	1.19	5.47	-2.22	0.06952	Dynein heavy chain, P-loop containing D4 domain (1);	0.071018	0.53938	D	0.000050	T	0.14830	0.0358	N	0.19112	0.55	0.80722	D	1	B	0.13145	0.007	B	0.18871	0.023	T	0.09422	-1.0675	10	0.20046	T	0.44	.	1.2911	0.02060	0.3675:0.1082:0.327:0.1973	.	2943	Q9P225	DYH2_HUMAN	D	2943	ENSP00000373825:E2943D	ENSP00000353818:E2943D	E	+	3	2	DNAH2	7645750	0.844000	0.29557	0.885000	0.34714	0.879000	0.50718	0.002000	0.13061	-0.300000	0.08895	0.585000	0.79938	GAG		0.612	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7722368	7722368	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7722368A>G	ENST00000572933.1	+	71	12262	c.10802A>G	c.(10801-10803)gAc>gGc	p.D3601G	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3601G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3601					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3601G(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCAACACTGACTTGGCGCGG	0.587																																					p.D3601G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10802G	17						.						53.0	46.0	49.0					17																	7722368		2203	4300	6503	7663093	SO:0001583	missense	146754	exon70			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10802A>G	17.37:g.7722368A>G	ENSP00000458355:p.Asp3601Gly	Somatic		Capture	Illumina HiSeq	Phase_I	7663093	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676021	0.67928	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55413	0.52	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000001	T	0.77519	0.4142	H	0.95043	3.615	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.962;0.946	T	0.82671	-0.0342	10	0.62326	D	0.03	.	10.6749	0.45781	1.0:0.0:0.0:0.0	.	3562;3601	Q9P225-2;Q9P225	.;DYH2_HUMAN	G	3562;3601	ENSP00000373825:D3601G	ENSP00000353818:D3562G	D	+	2	0	DNAH2	7663093	1.000000	0.71417	0.493000	0.27502	0.093000	0.18481	7.938000	0.87678	1.697000	0.51169	0.379000	0.24179	GAC		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7734740	7734740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7734740G>T	ENST00000572933.1	+	81	13952	c.12492G>T	c.(12490-12492)aaG>aaT	p.K4164N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K4164N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4164					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4164N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAAGCAGAAGATCCCTGAAA	0.557																																					p.K4164N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12492T	17						.						81.0	79.0	80.0					17																	7734740		2203	4300	6503	7675465	SO:0001583	missense	146754	exon80			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12492G>T	17.37:g.7734740G>T	ENSP00000458355:p.Lys4164Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7675465	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065523	0.36470	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.10288	2.89	5.3	4.33	0.51752	Dynein heavy chain (1);	0.166629	0.49305	D	0.000154	T	0.15869	0.0382	M	0.66297	2.02	0.80722	D	1	B;B	0.28208	0.081;0.203	B;B	0.32090	0.061;0.14	T	0.02288	-1.1182	10	0.59425	D	0.04	.	12.7193	0.57134	0.0804:0.0:0.9196:0.0	.	4125;4164	Q9P225-2;Q9P225	.;DYH2_HUMAN	N	4125;4164	ENSP00000373825:K4164N	ENSP00000353818:K4125N	K	+	3	2	DNAH2	7675465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.592000	0.53993	1.466000	0.48025	0.655000	0.94253	AAG		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
RNF213	57674	broad.mit.edu	37	17	78319225	78319225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:78319225G>A	ENST00000582970.1	+	29	7233	c.7090G>A	c.(7090-7092)Gac>Aac	p.D2364N	RNF213_ENST00000336301.6_Missense_Mutation_p.D437N|RNF213_ENST00000508628.2_Missense_Mutation_p.D2413N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2364					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D2413N(1)|p.D437N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCAATGTCGACTTTGATAA	0.552																																					p.D2413N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7237A	17						.						68.0	67.0	68.0					17																	78319225		2203	4300	6503	75933820	SO:0001583	missense	57674	exon30			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7090G>A	17.37:g.78319225G>A	ENSP00000464087:p.Asp2364Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75933820	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	5.617	0.298637	0.10622	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21361	2.01	5.01	0.769	0.18492	.	0.211870	0.38548	N	0.001643	T	0.10465	0.0256	L	0.28054	0.825	0.20926	N	0.99982	B	0.16166	0.016	B	0.20767	0.031	T	0.26258	-1.0108	10	0.16896	T	0.51	.	3.5721	0.07921	0.2694:0.106:0.5163:0.1084	.	437	Q63HN8	RN213_HUMAN	N	2364;2413;437	ENSP00000338218:D437N	ENSP00000338218:D437N	D	+	1	0	RNF213	75933820	0.096000	0.21769	0.361000	0.25849	0.086000	0.17979	0.370000	0.20433	0.372000	0.24591	0.655000	0.94253	GAC		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
SLC38A10	124565	broad.mit.edu	37	17	79226135	79226135	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:79226135C>T	ENST00000374759.3	-	13	2188	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	SLC38A10_ENST00000288439.5_Missense_Mutation_p.G602D	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	602					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G602D(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGATGCAGGCCCCTGTCTCC	0.657																																					p.G602D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1805A	17						.						24.0	28.0	26.0					17																	79226135		2202	4297	6499	76840730	SO:0001583	missense	124565	exon13			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1805G>A	17.37:g.79226135C>T	ENSP00000363891:p.Gly602Asp	Somatic		Capture	Illumina HiSeq	Phase_I	76840730	NM_001037984	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	0.498	-0.872255	0.02570	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.08634	3.25;3.07	3.41	1.13	0.20643	.	78.953000	0.00496	N	0.000149	T	0.03871	0.0109	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40776	-0.9545	10	0.12766	T	0.61	-1.4879	8.7152	0.34408	0.0:0.6709:0.0:0.3291	.	602;602	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	D	602	ENSP00000363891:G602D;ENSP00000288439:G602D	ENSP00000288439:G602D	G	-	2	0	SLC38A10	76840730	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.134000	0.03228	-0.255000	0.09486	-0.896000	0.02909	GGC		0.657	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
CHD3	1107	broad.mit.edu	37	17	7794343	7794343	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:7794343A>C	ENST00000330494.7	+	4	620	c.470A>C	c.(469-471)cAc>cCc	p.H157P	CHD3_ENST00000358181.4_Missense_Mutation_p.H157P|CHD3_ENST00000380358.4_Missense_Mutation_p.H216P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	157					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H157P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGATTACCACACGCTCACC	0.532																																					p.H157P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A470C	17						.						166.0	142.0	150.0					17																	7794343		2203	4300	6503	7735068	SO:0001583	missense	1107	exon4			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.470A>C	17.37:g.7794343A>C	ENSP00000332628:p.His157Pro	Somatic		Capture	Illumina HiSeq	Phase_I	7735068	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005177	0.54254	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90133	-2.62;-2.55;-2.55	4.54	4.54	0.55810	High mobility group, HMG1/HMG2 (1);CHD, N-terminal (1);	0.000000	0.48286	D	0.000185	D	0.88171	0.6365	N	0.22421	0.69	0.46874	D	0.999235	P;P;D	0.56287	0.924;0.938;0.975	B;P;P	0.51324	0.439;0.575;0.666	D	0.89645	0.3865	10	0.62326	D	0.03	-20.7739	14.0521	0.64745	1.0:0.0:0.0:0.0	.	157;157;216	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	216;157;157	ENSP00000369716:H216P;ENSP00000350907:H157P;ENSP00000332628:H157P	ENSP00000332628:H157P	H	+	2	0	CHD3	7735068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.706000	0.54830	1.904000	0.55121	0.455000	0.32223	CAC		0.532	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
NPLOC4	55666	broad.mit.edu	37	17	79564291	79564291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:79564291C>T	ENST00000331134.6	-	10	1188	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	NPLOC4_ENST00000374747.5_Missense_Mutation_p.V325I|NPLOC4_ENST00000539314.1_Missense_Mutation_p.V164I	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	325					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V325I(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGTAGCGGACGGTACCCTTT	0.468																																					p.V325I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	17						.						131.0	130.0	130.0					17																	79564291		2041	4187	6228	77174729	SO:0001583	missense	55666	exon10			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.973G>A	17.37:g.79564291C>T	ENSP00000331487:p.Val325Ile	Somatic		Capture	Illumina HiSeq	Phase_I	77174729	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510111	0.96386	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.982;0.998;0.999	D	0.89546	0.3796	9	0.66056	D	0.02	-34.7412	19.9063	0.97008	0.0:1.0:0.0:0.0	.	164;325;325	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	I	325;324;164	.	ENSP00000331487:V325I	V	-	1	0	NPLOC4	77174729	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.314000	0.78988	2.774000	0.95407	0.644000	0.83932	GTC		0.468	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1		
P4HB	5034	broad.mit.edu	37	17	79813420	79813420	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:79813420C>T	ENST00000331483.4	-	3	617	c.395G>A	c.(394-396)cGc>cAc	p.R132H	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	132	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.R132H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CGGGCCCGTGCGCTTCTTCAG	0.607																																					p.R132H	Colon(49;444 983 1296 7887 42561)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	17						.						47.0	49.0	48.0					17																	79813420		2203	4300	6503	77406709	SO:0001583	missense	5034	exon3			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.395G>A	17.37:g.79813420C>T	ENSP00000327801:p.Arg132His	Somatic		Capture	Illumina HiSeq	Phase_I	77406709	NM_000918	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231454	0.95207	.	.	ENSG00000185624	ENST00000331483;ENST00000436463	T	0.03717	3.83	4.42	4.42	0.53409	Thioredoxin-like fold (3);Disulphide isomerase (1);	0.054330	0.85682	D	0.000000	T	0.06188	0.0160	N	0.05177	-0.1	0.80722	D	1	D	0.69078	0.997	P	0.60236	0.871	T	0.56245	-0.8011	10	0.87932	D	0	.	17.0452	0.86500	0.0:1.0:0.0:0.0	.	132	P07237	PDIA1_HUMAN	H	132;116	ENSP00000327801:R132H	ENSP00000327801:R132H	R	-	2	0	P4HB	77406709	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.725000	0.84808	2.004000	0.58718	0.462000	0.41574	CGC		0.607	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	
SERPINF1	5176	broad.mit.edu	37	17	1678340	1678340	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:1678340A>G	ENST00000254722.4	+	6	806					NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1						aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TATGTCATACACTTCTTTCCA	0.517																																					.												.	.	0			.	17						.						73.0	72.0	72.0					17																	1678340		2203	4300	6503	1625090	SO:0001627	intron_variant	5176	.			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.644-12A>G	17.37:g.1678340A>G		Somatic		Capture	Illumina HiSeq	Phase_I	1625090	.	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Intron	SNP	ENST00000254722.4	37	CCDS11012.1																																																																																				0.517	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	
SGSM2	9905	broad.mit.edu	37	17	2270703	2270703	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:2270703C>A	ENST00000426855.2	+	11	1463				SGSM2_ENST00000574563.1_Intron|SGSM2_ENST00000268989.3_Intron	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2						late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.?(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ATGAAAGGTTCTTATCCCTCC	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						118.0	96.0	103.0					17																	2270703		2203	4300	6503	2217453	SO:0001627	intron_variant	9905	.			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1288+2068C>A	17.37:g.2270703C>A		Somatic		Capture	Illumina HiSeq	Phase_I	2217453	.	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Intron	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																				0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	
TRPV3	162514	broad.mit.edu	37	17	3424339	3424339	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3424339A>C	ENST00000576742.1	-	14	2065				TRPV3_ENST00000301365.4_Intron|TRPV3_ENST00000572519.1_Intron	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGACCTATAAGGAAATAAAC	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						64.0	58.0	60.0					17																	3424339		2201	4300	6501	3371089	SO:0001627	intron_variant	162514	.			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1744-6T>G	17.37:g.3424339A>C		Somatic		Capture	Illumina HiSeq	Phase_I	3371089	.	Q8NDW7|Q8NET9|Q8NFH2	Intron	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.393	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
TRPV3	162514	broad.mit.edu	37	17	3427482	3427482	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:3427482C>T	ENST00000576742.1	-	13	2065				TRPV3_ENST00000301365.4_Intron|TRPV3_ENST00000572519.1_Intron	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGGCGCAGCTCTCAACGCACC	0.602																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						148.0	144.0	145.0					17																	3427482		2203	4300	6503	3374232	SO:0001627	intron_variant	162514	.			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1743+9G>A	17.37:g.3427482C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3374232	.	Q8NDW7|Q8NET9|Q8NFH2	Intron	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.602	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
CHRNE	1145	broad.mit.edu	37	17	4805383	4805383	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:4805383C>A	ENST00000293780.4	-	5	355		c.e5-1		CHRNE_ENST00000575637.1_Splice_Site|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.?(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCCATCAATACTGTGGGCTCG	0.647																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						40.0	36.0	37.0					17																	4805383		2203	4300	6503	4746162	SO:0001630	splice_region_variant	1145	.			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.345-1G>T	17.37:g.4805383C>A		Somatic		Capture	Illumina HiSeq	Phase_I	4746162	.	D3DTK6	Splice_Site	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674595	0.88445	.	.	ENSG00000108556	ENST00000293780	.	.	.	4.68	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2554	0.43394	0.0:0.9038:0.0:0.0962	.	.	.	.	.	-1	.	.	.	-	.	.	CHRNE	4746162	1.000000	0.71417	0.775000	0.31657	0.765000	0.43378	7.604000	0.82830	1.197000	0.43143	0.561000	0.74099	.		0.647	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		Intron
ALOXE3	59344	broad.mit.edu	37	17	8011847	8011847	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8011847C>T	ENST00000448843.2	-	13	1963	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	ALOXE3_ENST00000380149.1_Silent_p.S697S|ALOXE3_ENST00000318227.3_Silent_p.S673S	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	541	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.S541S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CCTGCAGCTCCGAATCCTGCT	0.547																																					p.S541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1623A	17						.						77.0	70.0	72.0					17																	8011847		2203	4300	6503	7952572	SO:0001819	synonymous_variant	59344	exon13			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1623G>A	17.37:g.8011847C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7952572	NM_021628	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	CCDS11130.1																																																																																				0.547	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
AURKB	9212	broad.mit.edu	37	17	8110524	8110524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8110524C>T	ENST00000585124.1	-	5	461	c.368G>A	c.(367-369)cGc>cAc	p.R123H	AURKB_ENST00000578549.1_Intron|AURKB_ENST00000535053.1_Missense_Mutation_p.R124H|AURKB_ENST00000534871.1_Missense_Mutation_p.R82H|AURKB_ENST00000316199.6_Missense_Mutation_p.R124H	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R123H(1)		breast(1)|central_nervous_system(1)|lung(2)	4						GATCTCTCTGCGCAGCTGATG	0.582																																					p.R123H	NSCLC(134;1161 2470 43664 51568)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	17						.						64.0	61.0	62.0					17																	8110524		2203	4300	6503	8051249	SO:0001583	missense	9212	exon5			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.368G>A	17.37:g.8110524C>T	ENSP00000463999:p.Arg123His	Somatic		Capture	Illumina HiSeq	Phase_I	8051249	NM_004217	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385992	0.61956	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.68479	-0.33;-0.33	5.19	5.19	0.71726	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	0.73273	0.3566	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.75915	-0.3149	10	0.87932	D	0	-18.3729	16.2584	0.82528	0.0:1.0:0.0:0.0	.	123;123	C7G533;Q96GD4	.;AURKB_HUMAN	H	123;82;124	ENSP00000443869:R82H;ENSP00000445866:R124H	ENSP00000313950:R123H	R	-	2	0	AURKB	8051249	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.486000	0.81215	2.711000	0.92665	0.655000	0.94253	CGC		0.582	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217	
ARHGEF15	22899	broad.mit.edu	37	17	8222644	8222644	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8222644G>A	ENST00000361926.3	+	14	2311	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R734H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	734					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R734H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GACATGCAGCGCTGGCTGGGA	0.592																																					p.R734H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2201A	17						.						98.0	107.0	104.0					17																	8222644		2203	4300	6503	8163369	SO:0001583	missense	22899	exon14			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2201G>A	17.37:g.8222644G>A	ENSP00000355026:p.Arg734His	Somatic		Capture	Illumina HiSeq	Phase_I	8163369	NM_025014	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625214	0.87560	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.89552	-2.53;-2.53	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	M	0.84948	2.725	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95248	0.8357	10	0.87932	D	0	-21.8685	16.5779	0.84706	0.0:0.0:1.0:0.0	.	734;734	D3DTR7;O94989	.;ARHGF_HUMAN	H	734;524;734	ENSP00000355026:R734H;ENSP00000412505:R734H	ENSP00000355026:R734H	R	+	2	0	ARHGEF15	8163369	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.074000	0.64401	2.780000	0.95670	0.561000	0.74099	CGC		0.592	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728	
ODF4	146852	broad.mit.edu	37	17	8249012	8249012	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8249012A>C	ENST00000328248.2	+	3	804	c.616A>C	c.(616-618)Agt>Cgt	p.S206R	ODF4_ENST00000584943.1_Missense_Mutation_p.S91R	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	206					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.S206R(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CAACCATAAAAGTTTCTGGAG	0.517																																					p.S206R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A616C	17						.						98.0	96.0	97.0					17																	8249012		2203	4300	6503	8189737	SO:0001583	missense	146852	exon3			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.616A>C	17.37:g.8249012A>C	ENSP00000331086:p.Ser206Arg	Somatic		Capture	Illumina HiSeq	Phase_I	8189737	NM_153007	Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	7.423	0.637123	0.14386	.	.	ENSG00000184650	ENST00000328248	T	0.24723	1.84	4.64	-4.1	0.03940	.	1.695230	0.03074	N	0.157594	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.18681	-1.0329	10	0.12103	T	0.63	-0.0043	4.9111	0.13821	0.2585:0.5359:0.0828:0.1228	.	206	Q2M2E3	ODFP4_HUMAN	R	206	ENSP00000331086:S206R	ENSP00000331086:S206R	S	+	1	0	ODF4	8189737	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.639000	0.05446	-0.711000	0.04995	-1.542000	0.00909	AGT		0.517	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1		
KRBA2	124751	broad.mit.edu	37	17	8272655	8272655	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8272655G>T	ENST00000331336.2	-	2	1281	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P344T	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	426					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.P426T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GTTTCCCGGGGCAAGTTTGAG	0.448																																					p.P426T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276A	17						.						91.0	91.0	91.0					17																	8272655		2203	4300	6503	8213380	SO:0001583	missense	124751	exon2			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1276C>A	17.37:g.8272655G>T	ENSP00000328017:p.Pro426Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8213380	NM_213597	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	0.070	-1.204017	0.01581	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25912	1.77;1.8	2.64	2.64	0.31445	.	.	.	.	.	T	0.12008	0.0292	N	0.11364	0.135	0.25182	N	0.990196	B	0.33379	0.41	B	0.29598	0.104	T	0.14420	-1.0473	9	0.25106	T	0.35	.	8.9546	0.35809	0.0:0.0:1.0:0.0	.	426	Q6ZNG9	KRBA2_HUMAN	T	344;426	ENSP00000379565:P344T;ENSP00000328017:P426T	ENSP00000328017:P426T	P	-	1	0	KRBA2	8213380	0.632000	0.27172	0.766000	0.31476	0.087000	0.18053	2.128000	0.42045	1.784000	0.52394	0.650000	0.86243	CCC		0.448	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
NDEL1	81565	broad.mit.edu	37	17	8351924	8351924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:8351924G>A	ENST00000334527.7	+	5	643	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	NDEL1_ENST00000380025.4_Missense_Mutation_p.R149Q|NDEL1_ENST00000402554.3_Missense_Mutation_p.R149Q|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.R149Q	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	149	Interaction with KATNB1. {ECO:0000250}.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.R149Q(2)		large_intestine(6)|lung(4)|skin(3)	13						GCCATTGAACGAAATGCATTT	0.318																																					p.R149Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G446A	17						.						81.0	81.0	81.0					17																	8351924		2203	4300	6503	8292649	SO:0001583	missense	81565	exon5			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.446G>A	17.37:g.8351924G>A	ENSP00000333982:p.Arg149Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8292649	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412117	0.96072	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.76	4.76	0.60689	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.85830	0.1391	9	0.42905	T	0.14	-2.4788	17.9541	0.89063	0.0:0.0:1.0:0.0	.	149;149	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	Q	149;149;204;149	.	ENSP00000299734:R149Q	R	+	2	0	NDEL1	8292649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.567000	0.98161	2.471000	0.83476	0.655000	0.94253	CGA		0.318	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
NTN1	9423	broad.mit.edu	37	17	9124549	9124549	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:9124549G>T	ENST00000173229.2	+	6	1583	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N	NTN1_ENST00000546090.1_Missense_Mutation_p.K492N|NTN1_ENST00000538852.1_Missense_Mutation_p.K492N	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	492	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.K492N(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						AGTACTGCAAGAAGGACTATG	0.597																																					p.K492N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1476T	17						.						92.0	100.0	97.0					17																	9124549		2203	4300	6503	9065274	SO:0001583	missense	9423	exon6			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1476G>T	17.37:g.9124549G>T	ENSP00000173229:p.Lys492Asn	Somatic		Capture	Illumina HiSeq	Phase_I	9065274	NM_004822	E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280055	0.80692	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.24350	1.86;1.86;1.86	5.13	5.13	0.70059	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.215657	0.46442	D	0.000281	T	0.56790	0.2009	M	0.87180	2.865	0.58432	D	0.999997	D	0.60160	0.987	D	0.66497	0.944	T	0.65055	-0.6261	10	0.66056	D	0.02	.	18.1848	0.89789	0.0:0.0:1.0:0.0	.	492	O95631	NET1_HUMAN	N	492	ENSP00000173229:K492N;ENSP00000443259:K492N;ENSP00000441611:K492N	ENSP00000173229:K492N	K	+	3	2	NTN1	9065274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.465000	0.80898	2.404000	0.81709	0.462000	0.41574	AAG		0.597	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
DHRS7C	201140	broad.mit.edu	37	17	9683301	9683301	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:9683301G>T	ENST00000330255.5	-	3	334	c.322C>A	c.(322-324)Cca>Aca	p.P108T	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P107T	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	108					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.P108T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCCACATCTGGGACACAGCTG	0.507																																					p.P107T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C319A	17						.						79.0	77.0	78.0					17																	9683301		2027	4198	6225	9624026	SO:0001583	missense	201140	exon3				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.322C>A	17.37:g.9683301G>T	ENSP00000327975:p.Pro108Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9624026	NM_001105571	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	6.637	0.485952	0.12641	.	.	ENSG00000184544	ENST00000330255	D	0.87103	-2.21	5.48	4.5	0.54988	NAD(P)-binding domain (1);	0.419010	0.26525	N	0.023891	T	0.76385	0.3980	N	0.21240	0.645	0.22591	N	0.998954	B;B	0.33318	0.408;0.125	B;B	0.28465	0.09;0.079	T	0.61549	-0.7040	10	0.14656	T	0.56	.	13.955	0.64142	0.0:0.2885:0.7115:0.0	.	108;104	A6NNS2;B9EJH3	DRS7C_HUMAN;.	T	108	ENSP00000327975:P108T	ENSP00000327975:P108T	P	-	1	0	DHRS7C	9624026	0.972000	0.33761	0.971000	0.41717	0.708000	0.40852	2.237000	0.43061	1.280000	0.44463	0.655000	0.94253	CCA		0.507	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912	
MYH13	8735	broad.mit.edu	37	17	10248775	10248775	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10248775A>G	ENST00000418404.3	-	13	1577				MYH13_ENST00000252172.4_Intron			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle						cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTAGAAGGTCACAACTCACAT	0.473																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	17						.						179.0	173.0	175.0					17																	10248775		2203	4300	6503	10189500	SO:0001627	intron_variant	8735	.			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1413+8T>C	17.37:g.10248775A>G		Somatic		Capture	Illumina HiSeq	Phase_I	10189500	.	O95252|Q9P0U8	Intron	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.473	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH2	4620	broad.mit.edu	37	17	10436960	10436960	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:10436960A>G	ENST00000245503.5	-	20	2565				RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGTTGAAGTACATATAGCTT	0.333																																					.												.	.	0			.	17						.						75.0	72.0	73.0					17																	10436960		2203	4300	6503	10377685	SO:0001627	intron_variant	4620	.				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2181-11T>C	17.37:g.10436960A>G		Somatic		Capture	Illumina HiSeq	Phase_I	10377685	.	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Intron	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.333	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
DNAH9	1770	broad.mit.edu	37	17	11523106	11523106	+	Intron	SNP	C	C	T	rs369152348		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:11523106C>T	ENST00000262442.4	+	6	1418				DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGTGAGTGCGCACCTCACC	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.	C		1,4405		0,1,2202	53.0	48.0	50.0			-8.4	0.0	17		50	0,8600		0,0,4300	no	intron	DNAH9	NM_001372.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			11523106	1,13005	2203	4300	6503	11463831	SO:0001627	intron_variant	1770	.			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1350+8C>T	17.37:g.11523106C>T		Somatic		Capture	Illumina HiSeq	Phase_I	11463831	.	A2VCQ8|O15064|O95494|Q9NQ28	Intron	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ARHGAP44	9912	broad.mit.edu	37	17	12819216	12819216	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:12819216G>T	ENST00000379672.5	+	5	575		c.e5-1		ARHGAP44_ENST00000340825.3_Splice_Site|ARHGAP44_ENST00000262444.9_Splice_Site|MIR1269B_ENST00000580405.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44						exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTGGATTACAGGAAGATGCTG	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						72.0	70.0	71.0					17																	12819216		1988	4168	6156	12759941	SO:0001630	splice_region_variant	9912	.				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.276-1G>T	17.37:g.12819216G>T		Somatic		Capture	Illumina HiSeq	Phase_I	12759941	.	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Splice_Site	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238638	0.79800	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8186	0.88643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP44	12759941	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	8.491000	0.90468	2.818000	0.97014	0.655000	0.94253	.		0.468	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	Intron
CCDC144A	9720	broad.mit.edu	37	17	16610865	16610865	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:16610865A>G	ENST00000360524.8	+	4	814				CCDC144A_ENST00000443444.2_Intron|RP11-219A15.1_ENST00000448331.3_Intron|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000436374.1_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000399273.1_Intron|CCDC144A_ENST00000340621.5_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A									p.?(1)									AGGTGTGGAAACATTTAAACT	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						39.0	37.0	38.0					17																	16610865		1802	4072	5874	16551590	SO:0001627	intron_variant	9720	.			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.738+9A>G	17.37:g.16610865A>G		Somatic		Capture	Illumina HiSeq	Phase_I	16551590	.	O60311|Q6ZU57	Intron	SNP	ENST00000360524.8	37	CCDS45621.1																																																																																				0.363	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
SMCR8	140775	broad.mit.edu	37	17	18226388	18226388	+	3'UTR	SNP	C	C	T	rs375684610		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18226388C>T	ENST00000406438.3	+	0	3298				RP1-178F10.3_ENST00000577764.1_lincRNA	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AATCTGAGGTCGGTCCCAGAC	0.527																																					.												.	.	0			.	17						.	C		1,3855		0,1,1927	34.0	35.0	34.0			-2.8	0.3	17		34	0,8280		0,0,4140	no	utr-3	SMCR8	NM_144775.2		0,1,6067	TT,TC,CC		0.0,0.0259,0.0082			18226388	1,12135	1928	4140	6068	18167113	SO:0001624	3_prime_UTR_variant	140775	.			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.*4C>T	17.37:g.18226388C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18167113	.	A5PKZ5|Q3ZCN0|Q6PJL3	3'UTR	SNP	ENST00000406438.3	37	CCDS11195.2																																																																																				0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
SLC5A10	125206	broad.mit.edu	37	17	18923459	18923459	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:18923459T>G	ENST00000395645.3	+	14	1644				SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						cctcactcATTTCTTACAGAT	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						82.0	78.0	79.0					17																	18923459		2203	4300	6503	18864184	SO:0001627	intron_variant	125206	.				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1627-9T>G	17.37:g.18923459T>G		Somatic		Capture	Illumina HiSeq	Phase_I	18864184	.	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Intron	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.547	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
EFCAB5	374786	broad.mit.edu	37	17	28419963	28419963	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:28419963C>A	ENST00000394835.3	+	22	4513				EFCAB5_ENST00000320856.5_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding (GO:0005509)	p.?(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGTAAATTTCCACTTAATTA	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						84.0	76.0	79.0					17																	28419963		1838	4086	5924	25444089	SO:0001627	intron_variant	374786	.			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4321+9C>A	17.37:g.28419963C>A		Somatic		Capture	Illumina HiSeq	Phase_I	25444089	.	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Intron	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																				0.318	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
CRLF3	51379	broad.mit.edu	37	17	29124322	29124322	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:29124322C>A	ENST00000324238.6	-	3	550				CRLF3_ENST00000544695.1_Intron|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3						G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GGCACAAACTCTTTTACCTGT	0.393																																					.	Pancreas(30;346 881 29244 33464 41299)											.	.	1	Unknown(1)	large_intestine(1)	.	17						.						117.0	103.0	108.0					17																	29124322		2203	4300	6503	26148448	SO:0001627	intron_variant	51379	.			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.425+6G>T	17.37:g.29124322C>A		Somatic		Capture	Illumina HiSeq	Phase_I	26148448	.	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Intron	SNP	ENST00000324238.6	37	CCDS32607.1																																																																																				0.393	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1		
ASIC2	40	broad.mit.edu	37	17	31439096	31439096	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:31439096G>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_Intron|ASIC2_ENST00000225823.2_Intron|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CTGAAGGAGAGAAGAGAGAGA	0.532																																					.												.	.	0			.	17						.						49.0	43.0	45.0					17																	31439096		2203	4300	6503	28463209	SO:0001627	intron_variant	40	.			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-11C>A	17.37:g.31439096G>T		Somatic		Capture	Illumina HiSeq	Phase_I	28463209	.	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Intron	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																				0.532	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
AP2B1	163	broad.mit.edu	37	17	33984821	33984821	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:33984821T>G	ENST00000262325.7	+	14	2542				AP2B1_ENST00000592545.1_Intron|AP2B1_ENST00000538556.1_Intron|AP2B1_ENST00000589344.1_Intron|AP2B1_ENST00000537622.2_Intron|AP2B1_ENST00000545922.2_Intron|AP2B1_ENST00000312678.8_Intron	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTAAGCATCTTTCTTCCCTTG	0.433																																					.												.	.	0			.	17						.						99.0	101.0	100.0					17																	33984821		2203	4300	6503	31008934	SO:0001627	intron_variant	163	.			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1989+11T>G	17.37:g.33984821T>G		Somatic		Capture	Illumina HiSeq	Phase_I	31008934	.	A6NJP3|P21851|Q7Z451|Q96J19	Intron	SNP	ENST00000262325.7	37	CCDS32622.1																																																																																				0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
GGNBP2	79893	broad.mit.edu	37	17	34923617	34923617	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:34923617T>C	ENST00000304718.4	+	6	957		c.e6+2			NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAAACACAGGTAAGTCTGATG	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						106.0	97.0	100.0					17																	34923617		2203	4300	6503	31997730	SO:0001630	splice_region_variant	79893	.			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.641+2T>C	17.37:g.34923617T>C		Somatic		Capture	Illumina HiSeq	Phase_I	31997730	.	B2RPK7|Q96T90|Q9GZR8|Q9H767	Splice_Site	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814252	0.70912	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6069	0.76679	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GGNBP2	31997730	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.393000	0.79851	2.082000	0.62665	0.456000	0.33151	.		0.413	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	Intron
NR1D1	9572	broad.mit.edu	37	17	38252684	38252684	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:38252684A>G	ENST00000246672.3	-	4	1235					NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1						cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGATGTGGGGATGCTGCCTCA	0.493																																					.												.	.	0			.	17						.						86.0	76.0	79.0					17																	38252684		2203	4300	6503	35506210	SO:0001627	intron_variant	9572	.			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.604+11T>C	17.37:g.38252684A>G		Somatic		Capture	Illumina HiSeq	Phase_I	35506210	.	Q0P5Z4|Q15304	Intron	SNP	ENST00000246672.3	37	CCDS11361.1																																																																																				0.493	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1		
KRT14	3861	broad.mit.edu	37	17	39740504	39740504	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:39740504C>A	ENST00000167586.6	-	3	852					NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14						aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCATATAGTTCTCACCTCCTC	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						91.0	96.0	94.0					17																	39740504		2203	4300	6503	36994030	SO:0001627	intron_variant	3861	.			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.765+4G>T	17.37:g.39740504C>A		Somatic		Capture	Illumina HiSeq	Phase_I	36994030	.	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Intron	SNP	ENST00000167586.6	37	CCDS11400.1																																																																																				0.547	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
MBTD1	54799	broad.mit.edu	37	17	49279063	49279063	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:49279063G>T	ENST00000586178.1	-	12	1463				MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1						chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTTACCTAAAGAATTATATGA	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						123.0	126.0	125.0					17																	49279063		2203	4298	6501	46634062	SO:0001627	intron_variant	54799	.			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1120-6C>A	17.37:g.49279063G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46634062	.	Q6ZVU7|Q9NXU1	Intron	SNP	ENST00000586178.1	37	CCDS11581.2																																																																																				0.343	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1		
STXBP4	252983	broad.mit.edu	37	17	53155431	53155431	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:53155431C>T	ENST00000376352.2	+	14	1395				STXBP4_ENST00000434978.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4						cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTTGATATCTCTGTGCAGGAA	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						75.0	77.0	76.0					17																	53155431		2203	4300	6503	50510430	SO:0001627	intron_variant	252983	.			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1189-8C>T	17.37:g.53155431C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50510430	.	Q8IVZ5	Intron	SNP	ENST00000376352.2	37	CCDS11584.2																																																																																				0.328	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
TEX14	56155	broad.mit.edu	37	17	56738387	56738387	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:56738387G>A	ENST00000240361.8	-	2	85				RNU1-60P_ENST00000365207.1_RNA|TEX14_ENST00000389934.3_Intron|TEX14_ENST00000349033.5_Intron			Q8IWB6	TEX14_HUMAN	testis expressed 14						attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAATATTCACGAACACGCTCA	0.408																																					.												.	.	0			.	17						.						129.0	122.0	125.0					17																	56738387		2203	4300	6503	54093386	SO:0001627	intron_variant	56155	.			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1-9024C>T	17.37:g.56738387G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54093386	.	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Intron	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.408	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
DHX40	79665	broad.mit.edu	37	17	57679873	57679873	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:57679873C>A	ENST00000251241.4	+	15	1953				DHX40_ENST00000451169.2_Intron|DHX40_ENST00000425628.3_Intron	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.?(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTACATATTCTTTTTATAGC	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						53.0	56.0	55.0					17																	57679873		2202	4299	6501	55034655	SO:0001627	intron_variant	79665	.			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1807-10C>A	17.37:g.57679873C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55034655	.	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Intron	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.338	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
BCAS3	54828	broad.mit.edu	37	17	59001758	59001758	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:59001758C>A	ENST00000390652.5	+	13	1024				BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000589222.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000407086.3_Intron	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.?(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTCTTTATTTCTTTGTGAAGG	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						169.0	158.0	162.0					17																	59001758		1959	4161	6120	56356540	SO:0001627	intron_variant	54828	.			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.994-10C>A	17.37:g.59001758C>A		Somatic		Capture	Illumina HiSeq	Phase_I	56356540	.		Intron	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
TBX4	9496	broad.mit.edu	37	17	59557687	59557687	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:59557687C>T	ENST00000240335.1	+	7	1066				TBX4_ENST00000589449.1_Intron|TBX4_ENST00000393853.4_Intron	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4						angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGAGGTAGGGCTCTCCTGGTC	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						30.0	26.0	27.0					17																	59557687		2201	4298	6499	56912469	SO:0001627	intron_variant	9496	.			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1021+7C>T	17.37:g.59557687C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56912469	.	A5PKU7|B2RMT1|B7ZLV3	Intron	SNP	ENST00000240335.1	37	CCDS11629.1																																																																																				0.612	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488	
BRIP1	83990	broad.mit.edu	37	17	59763187	59763187	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:59763187C>A	ENST00000577598.1	-	18	2914	c.2915G>T	c.(2914-2916)aGt>aTt	p.S972I	BRIP1_ENST00000259008.2_Intron			Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	0	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATGGGAAGAACTTTTCATACT	0.308			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													.		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Unknown(1)	large_intestine(1)	.	17						.						89.0	98.0	95.0					17																	59763187		2203	4298	6501	57117969	SO:0001583	missense	83990	.			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000577598.1:c.2915G>T	17.37:g.59763187C>A	ENSP00000464654:p.Ser972Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57117969	.	Q3MJE2|Q8NCI5	Intron	SNP	ENST00000577598.1	37																																																																																					0.308	BRIP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000445363.1	NM_032043	
MARCH10	162333	broad.mit.edu	37	17	60865966	60865966	+	Intron	SNP	G	G	T	rs561839500		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:60865966G>T	ENST00000311269.5	-	3	365				MARCH10_ENST00000544856.2_Intron|MARCH10_ENST00000583600.1_Intron|MARCH10_ENST00000456609.2_Intron	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAGCCTGAAGAACAACAACA	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						114.0	101.0	105.0					17																	60865966		2203	4300	6503	58219698	SO:0001627	intron_variant	162333	.			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.91-6C>A	17.37:g.60865966G>T		Somatic		Capture	Illumina HiSeq	Phase_I	58219698	.	D3DU09|Q8IYS7|Q8N7Z7	Intron	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.413	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
TEX2	55852	broad.mit.edu	37	17	62238159	62238159	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62238159A>G	ENST00000583097.1	-	8	2977		c.e8+1		TEX2_ENST00000584379.1_Splice_Site|TEX2_ENST00000258991.3_Splice_Site			Q8IWB9	TEX2_HUMAN	testis expressed 2						signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.?(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATAGCCCCTTACCCTTCTTTG	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						173.0	184.0	180.0					17																	62238159		2203	4300	6503	59591891	SO:0001630	splice_region_variant	55852	.			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2804+1T>C	17.37:g.62238159A>G		Somatic		Capture	Illumina HiSeq	Phase_I	59591891	.	Q6AHZ5|Q8N3L0|Q9C0C5	Splice_Site	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	A	25.3	4.621929	0.87460	.	.	ENSG00000136478	ENST00000258991	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2149	0.82206	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEX2	59591891	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.234000	0.73211	0.459000	0.35465	.		0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	Intron
RPL31P57	645993	broad.mit.edu	37	17	62385903	62385903	+	IGR	SNP	G	G	A	rs367584045		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62385903G>A								TEX2 (45242 upstream) : MILR1 (75665 downstream)														p.R50W(2)									GCAAGTTTCCGGAGCTCTTTG	0.498																																					.												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	.	17						.	G		0,3884		0,0,1942	31.0	30.0	30.0			-1.3	0.0	17		30	1,8313		0,1,4156	no	intergenic				0,1,6098	AA,AG,GG		0.012,0.0,0.0082			62385903	1,12197	1942	4157	6099	59739635	SO:0001628	intergenic_variant	0	.																															17.37:g.62385903G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59739635	.		IGR	SNP		37																																																																																				0	0.498								
LRRC37A3	374819	broad.mit.edu	37	17	62850773	62850773	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:62850773A>C	ENST00000584306.1	-	14	5390				LRRC37A3_ENST00000334962.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3							integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGGGATAAGAATAACAATGC	0.517																																					.												.	.	0			.	17						.						101.0	101.0	101.0					17																	62850773		2203	4300	6503	60281235	SO:0001627	intron_variant	374819	.			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4860-11T>G	17.37:g.62850773A>C		Somatic		Capture	Illumina HiSeq	Phase_I	60281235	.	Q49A01|Q49A80|Q8NB33	Intron	SNP	ENST00000584306.1	37	CCDS32708.1																																																																																				0.517	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
AMZ2	51321	broad.mit.edu	37	17	66247120	66247120	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66247120G>A	ENST00000359904.3	+	3	1589				AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000580753.1_Intron|AMZ2_ENST00000577866.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000392720.2_Intron|AMZ2_ENST00000577985.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGAATTACACGACTTTGCAAT	0.333																																					.												.	.	0			.	17						.						52.0	52.0	52.0					17																	66247120		2203	4300	6503	63758715	SO:0001627	intron_variant	51321	.			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.457+12G>A	17.37:g.66247120G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63758715	.	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Intron	SNP	ENST00000359904.3	37	CCDS11674.1																																																																																				0.333	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	
ABCA8	10351	broad.mit.edu	37	17	66928417	66928417	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:66928417C>T	ENST00000269080.2	-	6	935				ABCA8_ENST00000586539.1_Intron|ABCA8_ENST00000430352.2_Intron	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTTGTGCTGCGTTTGACTCA	0.433																																					.												.	.	0			.	17						.						52.0	48.0	49.0					17																	66928417		2203	4300	6503	64440012	SO:0001627	intron_variant	10351	.			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.797+11G>A	17.37:g.66928417C>T		Somatic		Capture	Illumina HiSeq	Phase_I	64440012	.	A1L3U3|C9JQE6|Q86WW0	Intron	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																				0.433	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA10	10349	broad.mit.edu	37	17	67171542	67171542	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:67171542C>A	ENST00000269081.4	-	24	3787				ABCA10_ENST00000416101.2_Intron|ABCA10_ENST00000519732.1_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTCTCTCCCTCTTACTTTATA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						76.0	70.0	72.0					17																	67171542		2203	4300	6503	64683137	SO:0001627	intron_variant	10349	.			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2877+4G>T	17.37:g.67171542C>A		Somatic		Capture	Illumina HiSeq	Phase_I	64683137	.	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Intron	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
SEC14L1	6397	broad.mit.edu	37	17	75085406	75085406	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:75085406T>C	ENST00000430767.4	+	1	117				LINC00338_ENST00000515981.1_RNA|SEC14L1_ENST00000392476.2_Intron|SEC14L1_ENST00000564509.1_Intron	NM_001204410.1	NP_001191339	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGGAAAGGCTCCTGTGTTGT	0.532																																					.												.	.	0			.	17						.						280.0	250.0	259.0					17																	75085406		876	1991	2867	72597001	SO:0001627	intron_variant	654434	.			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000430767.4:c.-240+53T>C	17.37:g.75085406T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72597001	.	A8K4E8|B4DDI5|D5G3K1|Q99780	RNA	SNP	ENST00000430767.4	37	CCDS11752.1																																																																																				0.532	SEC14L1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
BIRC5	332	broad.mit.edu	37	17	76219740	76219740	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:76219740A>G	ENST00000600484.1	-	5	539	c.540T>C	c.(538-540)ttT>ttC	p.F180F	BIRC5_ENST00000301633.4_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_3'UTR																							ATGTCTTAGGAAAGGAGATCA	0.532																																					.												.	.	0			.	17						.						20.0	22.0	21.0					17																	76219740		2203	4300	6503	73731335	SO:0001819	synonymous_variant	332	.																														ENST00000600484.1:c.540T>C	17.37:g.76219740A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73731335	.		3'UTR	SNP	ENST00000600484.1	37																																																																																					0.532	AC087645.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
RNF213	57674	broad.mit.edu	37	17	78335700	78335700	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:78335700G>T	ENST00000582970.1	+	39	11498				RNF213_ENST00000336301.6_Intron|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAGATGTTTAGATACTGGCTA	0.502																																					.												.	.	0			.	17						.						60.0	56.0	58.0					17																	78335700		2203	4300	6503	75950295	SO:0001627	intron_variant	57674	.			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11355+12G>T	17.37:g.78335700G>T		Somatic		Capture	Illumina HiSeq	Phase_I	75950295	.	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Intron	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
NARF	26502	broad.mit.edu	37	17	80430462	80430462	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr17:80430462G>A	ENST00000309794.11	+	5	606	c.408G>A	c.(406-408)acG>acA	p.T136T	NARF_ENST00000345415.7_Silent_p.T88T|NARF_ENST00000412079.2_Intron|NARF_ENST00000390006.4_Silent_p.T77T|NARF_ENST00000457415.3_Silent_p.T136T|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	136						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.T136T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TATTTGATACGACGATAGCTG	0.448																																					p.T136T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G408A	17						.						128.0	117.0	121.0					17																	80430462		2203	4300	6503	78023751	SO:0001819	synonymous_variant	26502	exon5			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.408G>A	17.37:g.80430462G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78023751	NM_031968	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	CCDS32777.1																																																																																				0.448	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	
AFG3L2	10939	broad.mit.edu	37	18	12358777	12358777	+	Silent	SNP	C	C	T	rs376256180		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:12358777C>T	ENST00000269143.3	-	8	1149	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	306					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K306K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CATCTTTGAACTTCACATCAA	0.493																																					p.K306K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G918A	18						.	C		0,4406		0,0,2203	108.0	96.0	100.0		918	1.9	1.0	18		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AFG3L2	NM_006796.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		306/798	12358777	1,13005	2203	4300	6503	12348777	SO:0001819	synonymous_variant	10939	exon8			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.918G>A	18.37:g.12358777C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12348777	NM_006796	Q6P1L0	Silent	SNP	ENST00000269143.3	37	CCDS11859.1																																																																																				0.493	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
SPIRE1	56907	broad.mit.edu	37	18	12449710	12449710	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:12449710G>A	ENST00000409402.4	-	17	2465	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	SPIRE1_ENST00000410092.3_Missense_Mutation_p.T719M|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.T599M|RP11-861E21.2_ENST00000589795.1_RNA|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T522M|RP11-861E21.2_ENST00000588197.1_RNA	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.T560M(1)|p.T733M(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GAAAGACTGCGTTTTCCTTTT	0.527																																					p.T599M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1796T	18						.						111.0	107.0	109.0					18																	12449710		2203	4300	6503	12439710	SO:0001583	missense	56907	exon16			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.2198C>T	18.37:g.12449710G>A	ENSP00000387266:p.Thr733Met	Somatic		Capture	Illumina HiSeq	Phase_I	12439710	NM_001128627		Missense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789395	0.90367	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	T;T;T;T	0.56444	0.5;1.04;1.03;0.46	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.75033	-0.3460	10	0.72032	D	0.01	-17.8396	19.8965	0.96963	0.0:0.0:1.0:0.0	.	719;522;733	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	M	599;733;719;522	ENSP00000407050:T599M;ENSP00000387266:T733M;ENSP00000387226:T719M;ENSP00000309661:T522M	ENSP00000309661:T522M	T	-	2	0	SPIRE1	12439710	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.238000	0.95380	2.717000	0.92951	0.655000	0.94253	ACG		0.527	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
CEP76	79959	broad.mit.edu	37	18	12701088	12701088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:12701088C>A	ENST00000262127.2	-	2	313	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	PSMG2_ENST00000590217.1_5'Flank|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Nonsense_Mutation_p.E30*|PSMG2_ENST00000317615.6_5'Flank|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	30					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.E30*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAAGGATTTCTCTTATTCTA	0.368																																					p.E30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G88T	18						.						128.0	114.0	119.0					18																	12701088		2203	4300	6503	12691088	SO:0001587	stop_gained	79959	exon2			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.88G>T	18.37:g.12701088C>A	ENSP00000262127:p.Glu30*	Somatic		Capture	Illumina HiSeq	Phase_I	12691088	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Nonsense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097145	0.98063	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	.	.	.	5.07	5.07	0.68467	.	0.045801	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.3508	18.4403	0.90664	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000262127:E30X	E	-	1	0	CEP76	12691088	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.438000	0.80431	2.342000	0.79632	0.557000	0.71058	GAA		0.368	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
SEH1L	81929	broad.mit.edu	37	18	12986900	12986900	+	3'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:12986900G>A	ENST00000262124.11	+	0	2859				SEH1L_ENST00000399892.2_Silent_p.S370S|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.S370S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GGGCTGGATCGAGATGGTCCA	0.488																																					p.S370S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1110A	18						.						49.0	44.0	46.0					18																	12986900		2203	4300	6503	12976900	SO:0001624	3_prime_UTR_variant	81929	exon9			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1649G>A	18.37:g.12986900G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12976900	NM_001013437	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	ENST00000262124.11	37	CCDS45832.1																																																																																				0.488	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216	
CEP192	55125	broad.mit.edu	37	18	13114134	13114134	+	Silent	SNP	C	C	T	rs151127945	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:13114134C>T	ENST00000325971.8	+	40	6978	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	CEP192_ENST00000430049.2_Silent_p.I1916I|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Silent_p.I2391I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1795					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.I1795I(1)|p.I2391I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TATAGAGCATCGAAGCAGAAA	0.353													C|||	7	0.00139776	0.0053	0.0	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0				p.I2391I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7173T	18						.	C		21,4385	28.1+/-56.4	0,21,2182	108.0	109.0	109.0		7173	4.3	0.0	18	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	CEP192	NM_032142.3		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		2391/2538	13114134	21,12985	2203	4300	6503	13104134	SO:0001819	synonymous_variant	55125	exon42			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5385C>T	18.37:g.13114134C>T		Somatic		Capture	Illumina HiSeq	Phase_I	13104134	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.353	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
FAM210A	125228	broad.mit.edu	37	18	13681792	13681792	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:13681792A>C	ENST00000322247.3	-	3	672	c.285T>G	c.(283-285)gtT>gtG	p.V95V	FAM210A_ENST00000402563.1_Silent_p.V95V|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	95						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V95V(1)									TGGATGAAAAAACCCTCCTGA	0.458																																					p.V95V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T285G	18						.						190.0	194.0	193.0					18																	13681792		2203	4300	6503	13671792	SO:0001819	synonymous_variant	125228	exon2			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.285T>G	18.37:g.13681792A>C		Somatic		Capture	Illumina HiSeq	Phase_I	13671792	NM_152352	D3DUJ4	Silent	SNP	ENST00000322247.3	37	CCDS11866.1																																																																																				0.458	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
MC5R	4161	broad.mit.edu	37	18	13826667	13826667	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:13826667G>T	ENST00000324750.3	+	1	1125	c.903G>T	c.(901-903)gaG>gaT	p.E301D	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	301					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.E301D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCAGCCAAGAGATGCGGAAGA	0.478																																					p.E301D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G903T	18						.						112.0	113.0	112.0					18																	13826667		2203	4300	6503	13816667	SO:0001583	missense	4161	exon1			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.903G>T	18.37:g.13826667G>T	ENSP00000318077:p.Glu301Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13816667	NM_005913	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983009	0.34942	.	.	ENSG00000176136	ENST00000324750	T	0.37411	1.2	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.80332	2.49	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	T	0.61013	-0.7148	10	0.87932	D	0	.	6.3186	0.21204	0.2441:0.0:0.7559:0.0	.	301	P33032	MC5R_HUMAN	D	301	ENSP00000318077:E301D	ENSP00000318077:E301D	E	+	3	2	MC5R	13816667	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	2.881000	0.48538	2.246000	0.74042	0.305000	0.20034	GAG		0.478	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
MC2R	4158	broad.mit.edu	37	18	13885284	13885284	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:13885284G>T	ENST00000327606.3	-	2	414	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	78					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.I78I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TATTTTCCAAGATCTTATATA	0.448																																					p.I78I	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234A	18						.						101.0	95.0	97.0					18																	13885284		2203	4300	6503	13875284	SO:0001819	synonymous_variant	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.234C>A	18.37:g.13885284G>T		Somatic		Capture	Illumina HiSeq	Phase_I	13875284	NM_000529	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.448	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
ZNF519	162655	broad.mit.edu	37	18	14105755	14105755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:14105755C>A	ENST00000590202.1	-	3	936	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	262					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E262*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTGATTTTTCTCCAGTGTTA	0.318																																					p.E262X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G784T	18						.						44.0	49.0	47.0					18																	14105755		2203	4300	6503	14095755	SO:0001587	stop_gained	162655	exon3			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.784G>T	18.37:g.14105755C>A	ENSP00000464872:p.Glu262*	Somatic		Capture	Illumina HiSeq	Phase_I	14095755	NM_145287		Nonsense_Mutation	SNP	ENST00000590202.1	37	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983296	0.74474	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	262	.	ENSP00000307908:E262X	E	-	1	0	ZNF519	14095755	0.273000	0.24181	0.005000	0.12908	0.258000	0.26162	2.779000	0.47734	0.661000	0.30985	0.089000	0.15464	GAA		0.318	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287	
ROCK1	6093	broad.mit.edu	37	18	18539847	18539847	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:18539847C>T	ENST00000399799.2	-	29	4406	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1156	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1156K(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTATCTTGTTCGTCATTATAG	0.338																																					p.E1156K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3466A	18						.						64.0	60.0	61.0					18																	18539847		2202	4294	6496	16793845	SO:0001583	missense	6093	exon29				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3466G>A	18.37:g.18539847C>T	ENSP00000382697:p.Glu1156Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16793845	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	36	5.764674	0.96906	.	.	ENSG00000067900	ENST00000399799	T	0.18502	2.21	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.30650	-0.9971	10	0.72032	D	0.01	.	19.8167	0.96571	0.0:1.0:0.0:0.0	.	1156	Q13464	ROCK1_HUMAN	K	1156	ENSP00000382697:E1156K	ENSP00000382697:E1156K	E	-	1	0	ROCK1	16793845	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.776000	0.85560	2.762000	0.94881	0.591000	0.81541	GAA		0.338	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ROCK1	6093	broad.mit.edu	37	18	18547025	18547025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:18547025C>T	ENST00000399799.2	-	27	4145	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1069					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1069K(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGTGCACATTCTTCTACCAAT	0.328																																					p.E1069K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3205A	18						.						135.0	123.0	127.0					18																	18547025		2203	4300	6503	16801023	SO:0001583	missense	6093	exon27				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3205G>A	18.37:g.18547025C>T	ENSP00000382697:p.Glu1069Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16801023	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	35	5.492669	0.96339	.	.	ENSG00000067900	ENST00000399799	T	0.13420	2.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.14868	-1.0457	10	0.30078	T	0.28	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	1069	Q13464	ROCK1_HUMAN	K	1069	ENSP00000382697:E1069K	ENSP00000382697:E1069K	E	-	1	0	ROCK1	16801023	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.899000	0.63245	2.646000	0.89796	0.585000	0.79938	GAA		0.328	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ROCK1	6093	broad.mit.edu	37	18	18571178	18571178	+	Missense_Mutation	SNP	T	T	G	rs577130897		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:18571178T>G	ENST00000399799.2	-	18	3042	c.2102A>C	c.(2101-2103)aAa>aCa	p.K701T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	701	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K701T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGATTGATGTTTGTCAGTTAA	0.294																																					p.K701T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2102C	18						.						256.0	238.0	244.0					18																	18571178		2203	4299	6502	16825176	SO:0001583	missense	6093	exon18				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2102A>C	18.37:g.18571178T>G	ENSP00000382697:p.Lys701Thr	Somatic		Capture	Illumina HiSeq	Phase_I	16825176	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779133	0.70107	.	.	ENSG00000067900	ENST00000399799	T	0.67523	-0.27	4.02	4.02	0.46733	.	0.048962	0.85682	D	0.000000	T	0.73171	0.3553	M	0.79805	2.47	0.52099	D	0.999947	P	0.49358	0.923	P	0.51615	0.675	T	0.75750	-0.3208	10	0.56958	D	0.05	.	8.1982	0.31409	0.0:0.0914:0.0:0.9086	.	701	Q13464	ROCK1_HUMAN	T	701	ENSP00000382697:K701T	ENSP00000382697:K701T	K	-	2	0	ROCK1	16825176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.395000	0.66291	1.796000	0.52611	0.533000	0.62120	AAA		0.294	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
NPC1	4864	broad.mit.edu	37	18	21112225	21112225	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21112225T>G	ENST00000269228.5	-	25	4332	c.3778A>C	c.(3778-3780)Agt>Cgt	p.S1260R	NPC1_ENST00000412552.2_Missense_Mutation_p.S942R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1260					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.S1260R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGGCACAACTTTTGGCTTTA	0.493																																					p.S1260R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3778C	18						.						192.0	175.0	181.0					18																	21112225		2203	4300	6503	19366223	SO:0001583	missense	4864	exon25			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3778A>C	18.37:g.21112225T>G	ENSP00000269228:p.Ser1260Arg	Somatic		Capture	Illumina HiSeq	Phase_I	19366223	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	9.421	1.083058	0.20309	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	T;T	0.53640	0.61;0.61	6.17	4.95	0.65309	.	0.464988	0.27193	N	0.020499	T	0.30135	0.0755	L	0.34521	1.04	0.25669	N	0.985914	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11518	-1.0584	10	0.15952	T	0.53	-4.1266	4.958	0.14052	0.1394:0.1359:0.0:0.7247	.	1271;1260	Q59GR1;O15118	.;NPC1_HUMAN	R	1260;942	ENSP00000269228:S1260R;ENSP00000408606:S942R	ENSP00000269228:S1260R	S	-	1	0	NPC1	19366223	1.000000	0.71417	0.984000	0.44739	0.439000	0.31926	2.560000	0.45896	2.371000	0.80710	0.533000	0.62120	AGT		0.493	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
LAMA3	3909	broad.mit.edu	37	18	21529849	21529849	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21529849G>T	ENST00000313654.9	+	71	9713	c.9472G>T	c.(9472-9474)Ggc>Tgc	p.G3158C	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1493C|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1549C|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3102C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3158	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G3158C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTGGAGAAAGGCATTTATTT	0.433																																					p.G1493C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4477T	18						.						130.0	130.0	130.0					18																	21529849		2203	4300	6503	19783847	SO:0001583	missense	3909	exon33			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9472G>T	18.37:g.21529849G>T	ENSP00000324532:p.Gly3158Cys	Somatic		Capture	Illumina HiSeq	Phase_I	19783847	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696066	0.88830	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.80480	-1.38;-1.38;-1.38	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.91280	0.7251	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91960	0.5578	9	0.87932	D	0	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	1493;1549;3102;3158	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	C	3158;3102;1549	ENSP00000324532:G3158C;ENSP00000382432:G3102C;ENSP00000269217:G1549C	ENSP00000269217:G1549C	G	+	1	0	LAMA3	19783847	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.932000	0.87634	2.687000	0.91594	0.655000	0.94253	GGC		0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
TTC39C	125488	broad.mit.edu	37	18	21660872	21660872	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21660872G>A	ENST00000317571.3	+	5	1020	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.E201K	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	262				E -> V (in Ref. 1; BAC03578). {ECO:0000305}.				p.E201K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GTATGCAAGCGAAAGTAAGGA	0.443																																					p.E262K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	18						.						52.0	53.0	53.0					18																	21660872		2203	4300	6503	19914870	SO:0001583	missense	125488	exon5			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.784G>A	18.37:g.21660872G>A	ENSP00000323645:p.Glu262Lys	Somatic		Capture	Illumina HiSeq	Phase_I	19914870	NM_001135993	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	g	18.32	3.597457	0.66332	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.38240	1.15;1.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.55103	1.725	0.80722	D	1	P	0.37548	0.599	B	0.23275	0.045	T	0.19614	-1.0300	10	0.09590	T	0.72	-6.3723	20.3076	0.98634	0.0:0.0:1.0:0.0	.	262	Q8N584	TT39C_HUMAN	K	201;262	ENSP00000306598:E201K;ENSP00000323645:E262K	ENSP00000306598:E201K	E	+	1	0	TTC39C	19914870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.472000	0.97709	2.802000	0.96397	0.645000	0.84053	GAA		0.443	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	
CABYR	26256	broad.mit.edu	37	18	21736216	21736216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21736216G>T	ENST00000399481.2	+	2	609	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	CABYR_ENST00000399499.1_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	251					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.E251*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCAACCTAAAGAAAATGAGGC	0.483																																					p.E233X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G697T	18						.						74.0	69.0	71.0					18																	21736216		2203	4300	6503	19990214	SO:0001587	stop_gained	26256	exon3			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.457G>T	18.37:g.21736216G>T	ENSP00000382404:p.Glu153*	Somatic		Capture	Illumina HiSeq	Phase_I	19990214	NM_153768	B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Nonsense_Mutation	SNP	ENST00000399481.2	37		.	.	.	.	.	.	.	.	.	.	G	10.25	1.299779	0.23650	.	.	ENSG00000154040	ENST00000399481	.	.	.	4.79	2.93	0.34026	.	1.165290	0.06199	N	0.682858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0551	8.7262	0.34471	0.0:0.1658:0.6621:0.1721	.	.	.	.	X	153	.	.	E	+	1	0	CABYR	19990214	0.182000	0.23173	0.120000	0.21714	0.177000	0.22998	2.282000	0.43461	0.576000	0.29452	0.655000	0.94253	GAA		0.483	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770	
OSBPL1A	114876	broad.mit.edu	37	18	21912960	21912960	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21912960A>C	ENST00000319481.3	-	7	777	c.571T>G	c.(571-573)Tgt>Ggt	p.C191G		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	191	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.C191G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTAAGGCACATTGTTTATGG	0.408																																					p.C191G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T571G	18						.						125.0	116.0	119.0					18																	21912960		2203	4300	6503	20166958	SO:0001583	missense	114876	exon7			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.571T>G	18.37:g.21912960A>C	ENSP00000320291:p.Cys191Gly	Somatic		Capture	Illumina HiSeq	Phase_I	20166958	NM_080597	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017786	0.75161	.	.	ENSG00000141447	ENST00000319481	D	0.82344	-1.6	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88829	0.3304	10	0.54805	T	0.06	-16.2132	14.6772	0.68989	1.0:0.0:0.0:0.0	.	191	Q9BXW6	OSBL1_HUMAN	G	191	ENSP00000320291:C191G	ENSP00000320291:C191G	C	-	1	0	OSBPL1A	20166958	1.000000	0.71417	0.914000	0.36105	0.976000	0.68499	8.379000	0.90146	1.926000	0.55796	0.528000	0.53228	TGT		0.408	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
OSBPL1A	114876	broad.mit.edu	37	18	21948295	21948295	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21948295C>A	ENST00000319481.3	-	3	369	c.163G>T	c.(163-165)Gca>Tca	p.A55S	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.A55S|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	55	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.A55S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAATAGCATGCCAGATGTAGA	0.318																																					p.A55S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163T	18						.						104.0	101.0	102.0					18																	21948295		2203	4300	6503	20202293	SO:0001583	missense	114876	exon3			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.163G>T	18.37:g.21948295C>A	ENSP00000320291:p.Ala55Ser	Somatic		Capture	Illumina HiSeq	Phase_I	20202293	NM_080597	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319044	0.60524	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.80824	-0.56;-1.42	4.32	4.32	0.51571	Ankyrin repeat-containing domain (4);	0.195256	0.43747	U	0.000528	T	0.82010	0.4944	M	0.81614	2.55	0.45035	D	0.998056	B	0.33345	0.409	B	0.39379	0.298	D	0.83927	0.0304	10	0.87932	D	0	-18.8547	9.7717	0.40593	0.0:0.9006:0.0:0.0994	.	55	Q9BXW6	OSBL1_HUMAN	S	55	ENSP00000320291:A55S;ENSP00000382370:A55S	ENSP00000320291:A55S	A	-	1	0	OSBPL1A	20202293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.632000	0.61311	2.107000	0.64212	0.591000	0.81541	GCA		0.318	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
ZNF521	25925	broad.mit.edu	37	18	22805939	22805939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:22805939C>T	ENST00000361524.3	-	4	2091	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	ZNF521_ENST00000584787.1_Missense_Mutation_p.S428N|ZNF521_ENST00000538137.2_Missense_Mutation_p.S648N|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	648					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S648N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCTGAAAGCTGTCTAGGGA	0.458			T	PAX5	ALL																																p.S648N			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1943A	18						.						177.0	163.0	167.0					18																	22805939		2203	4300	6503	21059937	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1943G>A	18.37:g.22805939C>T	ENSP00000354794:p.Ser648Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21059937	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768413	0.15983	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.76968	-1.06;-1.06	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.284533	0.44285	D	0.000475	T	0.65375	0.2685	N	0.13098	0.295	0.31509	N	0.6638	B	0.23490	0.086	B	0.31686	0.134	T	0.62296	-0.6884	10	0.20046	T	0.44	-17.1267	15.6065	0.76676	0.0:0.8631:0.1369:0.0	.	648	Q96K83	ZN521_HUMAN	N	648;682;648	ENSP00000354794:S648N;ENSP00000382352:S648N	ENSP00000354794:S648N	S	-	2	0	ZNF521	21059937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.634000	0.61325	2.836000	0.97738	0.655000	0.94253	AGC		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ZNF521	25925	broad.mit.edu	37	18	22806179	22806179	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:22806179G>A	ENST00000361524.3	-	4	1851	c.1703C>T	c.(1702-1704)tCg>tTg	p.S568L	ZNF521_ENST00000584787.1_Missense_Mutation_p.S348L|ZNF521_ENST00000538137.2_Missense_Mutation_p.S568L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	568					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S568L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAATATTGGCGAATTTGTACA	0.413			T	PAX5	ALL																																p.S568L			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1703T	18						.						112.0	117.0	115.0					18																	22806179		2203	4300	6503	21060177	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1703C>T	18.37:g.22806179G>A	ENSP00000354794:p.Ser568Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21060177	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251736	0.22880	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.92	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.29908	0.895	0.53688	D	0.999977	P	0.50443	0.935	P	0.44732	0.459	T	0.00565	-1.1668	10	0.52906	T	0.07	-13.0342	20.4581	0.99154	0.0:0.0:1.0:0.0	.	568	Q96K83	ZN521_HUMAN	L	568;602;568	ENSP00000354794:S568L;ENSP00000382352:S568L	ENSP00000354794:S568L	S	-	2	0	ZNF521	21060177	1.000000	0.71417	0.783000	0.31826	0.537000	0.34900	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	TCG		0.413	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
TAF4B	6875	broad.mit.edu	37	18	23807085	23807085	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:23807085G>A	ENST00000269142.5	+	1	1186	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	TAF4B_ENST00000578121.1_Missense_Mutation_p.R63Q|TAF4B_ENST00000400466.2_Missense_Mutation_p.R63Q	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	63					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R63L(1)|p.R63Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGCCCCTGCGGTCCCCCGTG	0.706																																					p.R63Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G188A	18						.						26.0	29.0	28.0					18																	23807085		1899	4104	6003	22061083	SO:0001583	missense	6875	exon1			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.188G>A	18.37:g.23807085G>A	ENSP00000269142:p.Arg63Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22061083	NM_005640	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986703	0.18889	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.23950	1.88;1.92;1.88	5.23	-3.58	0.04597	.	0.702002	0.10326	U	0.688167	T	0.12902	0.0313	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37502	-0.9703	10	0.12430	T	0.62	-5.8098	2.2942	0.04146	0.143:0.1937:0.3825:0.2808	.	63;63	Q92750;A4PBF7	TAF4B_HUMAN;.	Q	63	ENSP00000389365:R63Q;ENSP00000269142:R63Q;ENSP00000383314:R63Q	ENSP00000269142:R63Q	R	+	2	0	TAF4B	22061083	0.034000	0.19679	0.131000	0.22000	0.242000	0.25591	-0.783000	0.04638	-0.649000	0.05430	-1.164000	0.01763	CGG		0.706	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	
CDH2	1000	broad.mit.edu	37	18	25565518	25565518	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:25565518C>A	ENST00000269141.3	-	12	2372	c.1949G>T	c.(1948-1950)aGa>aTa	p.R650I	CDH2_ENST00000399380.3_Missense_Mutation_p.R619I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	650	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R650I(1)|p.R650T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTCCAATTTCTCTTAATAGT	0.343																																					p.R650I												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1949T	18						.						66.0	65.0	65.0					18																	25565518		2203	4300	6503	23819516	SO:0001583	missense	1000	exon12			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1949G>T	18.37:g.25565518C>A	ENSP00000269141:p.Arg650Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23819516	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358516	0.61403	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61627	0.09;0.09	5.96	4.18	0.49190	Cadherin (3);Cadherin-like (1);	0.084915	0.85682	D	0.000000	T	0.73353	0.3576	M	0.83384	2.64	0.80722	D	1	P;P	0.51933	0.949;0.948	D;P	0.64776	0.929;0.844	T	0.74213	-0.3738	10	0.62326	D	0.03	.	8.7341	0.34516	0.0:0.7185:0.0:0.2815	.	619;650	A8MWK3;P19022	.;CADH2_HUMAN	I	650;619	ENSP00000269141:R650I;ENSP00000382312:R619I	ENSP00000269141:R650I	R	-	2	0	CDH2	23819516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	0.867000	0.35654	0.585000	0.79938	AGA		0.343	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CDH2	1000	broad.mit.edu	37	18	25568590	25568590	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:25568590C>A	ENST00000269141.3	-	11	2062	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	CDH2_ENST00000399380.3_Missense_Mutation_p.D516Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	547	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.D547Y(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCACAGGATCTATTTTTAGC	0.289																																					p.D547Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1639T	18						.						107.0	111.0	110.0					18																	25568590		2203	4300	6503	23822588	SO:0001583	missense	1000	exon11			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1639G>T	18.37:g.25568590C>A	ENSP00000269141:p.Asp547Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23822588	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543478	0.86022	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.66815	-0.23;-0.23	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.70935	0.935;0.971	D	0.92258	0.5814	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	516;547	A8MWK3;P19022	.;CADH2_HUMAN	Y	547;516	ENSP00000269141:D547Y;ENSP00000382312:D516Y	ENSP00000269141:D547Y	D	-	1	0	CDH2	23822588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.439000	0.80444	2.752000	0.94435	0.655000	0.94253	GAT		0.289	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
NDC80	10403	broad.mit.edu	37	18	2578011	2578011	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:2578011C>A	ENST00000261597.4	+	5	529	c.347C>A	c.(346-348)tCt>tAt	p.S116Y		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	116	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.S116Y(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TCCATGAAATCTCTACAAGCT	0.348																																					p.S116Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347A	18						.						151.0	136.0	141.0					18																	2578011		2203	4300	6503	2568011	SO:0001583	missense	10403	exon5			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.347C>A	18.37:g.2578011C>A	ENSP00000261597:p.Ser116Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	2568011	NM_006101	Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664036	0.67700	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.46451	0.87	5.95	5.95	0.96441	.	0.153415	0.64402	D	0.000011	T	0.58293	0.2112	M	0.76574	2.34	0.54753	D	0.999981	D	0.89917	1.0	D	0.70016	0.967	T	0.56774	-0.7923	10	0.02654	T	1	-12.5656	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	116	O14777	NDC80_HUMAN	Y	116	ENSP00000261597:S116Y	ENSP00000261597:S116Y	S	+	2	0	NDC80	2568011	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.006000	0.63978	2.824000	0.97209	0.655000	0.94253	TCT		0.348	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101	
SMCHD1	23347	broad.mit.edu	37	18	2688712	2688712	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:2688712G>T	ENST00000320876.6	+	7	1178	c.840G>T	c.(838-840)gaG>gaT	p.E280D	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E280D|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	280					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.E280D(2)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAATAAAGAGGCAATATATA	0.318																																					p.E280D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G840T	18						.						20.0	19.0	19.0					18																	2688712		1785	4021	5806	2678712	SO:0001583	missense	23347	exon7			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.840G>T	18.37:g.2688712G>T	ENSP00000326603:p.Glu280Asp	Somatic		Capture	Illumina HiSeq	Phase_I	2678712	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728343	0.69074	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.94862	-3.54;-3.54	5.07	-3.39	0.04868	ATPase-like, ATP-binding domain (2);	.	.	.	.	D	0.95004	0.8383	L	0.46157	1.445	0.24807	N	0.992664	D	0.71674	0.998	D	0.69654	0.965	D	0.89947	0.4077	9	0.66056	D	0.02	.	13.4795	0.61328	0.8262:0.0:0.1738:0.0	.	280	A6NHR9	SMHD1_HUMAN	D	280	ENSP00000326603:E280D;ENSP00000261598:E280D	ENSP00000261598:E280D	E	+	3	2	SMCHD1	2678712	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	1.728000	0.38105	-0.547000	0.06207	-0.806000	0.03193	GAG		0.318	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
CDH2	1000	broad.mit.edu	37	18	25582974	25582974	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:25582974C>A	ENST00000269141.3	-	7	1430	c.1007G>T	c.(1006-1008)gGa>gTa	p.G336V	CDH2_ENST00000399380.3_Missense_Mutation_p.G305V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	336	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G336V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGATCAAGTCCAGCTGCCAC	0.403																																					p.G336V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007T	18						.						214.0	185.0	195.0					18																	25582974		2203	4300	6503	23836972	SO:0001583	missense	1000	exon7			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1007G>T	18.37:g.25582974C>A	ENSP00000269141:p.Gly336Val	Somatic		Capture	Illumina HiSeq	Phase_I	23836972	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874432	0.91664	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50277	0.75;0.75	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	N	0.21448	0.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62567	-0.6827	10	0.87932	D	0	.	20.1393	0.98055	0.0:1.0:0.0:0.0	.	305;336	A8MWK3;P19022	.;CADH2_HUMAN	V	336;305	ENSP00000269141:G336V;ENSP00000382312:G305V	ENSP00000269141:G336V	G	-	2	0	CDH2	23836972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.759000	0.94783	0.563000	0.77884	GGA		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DSG1	1828	broad.mit.edu	37	18	28919975	28919975	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:28919975C>A	ENST00000257192.4	+	11	1886	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	558					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.F558L(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCATGGGATTCTTGGTCTTAG	0.408																																					p.F558L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1674A	18						.						74.0	72.0	73.0					18																	28919975		2203	4300	6503	27173973	SO:0001583	missense	1828	exon11			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1674C>A	18.37:g.28919975C>A	ENSP00000257192:p.Phe558Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27173973	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421242	0.42918	.	.	ENSG00000134760	ENST00000257192	T	0.38401	1.14	5.5	5.5	0.81552	.	0.433121	0.22093	N	0.064726	T	0.28732	0.0712	L	0.33792	1.035	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.08006	-1.0743	10	0.11794	T	0.64	.	16.8902	0.86085	0.0:1.0:0.0:0.0	.	558	Q02413	DSG1_HUMAN	L	558	ENSP00000257192:F558L	ENSP00000257192:F558L	F	+	3	2	DSG1	27173973	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	4.365000	0.59486	2.582000	0.87167	0.655000	0.94253	TTC		0.408	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG1	1828	broad.mit.edu	37	18	28934328	28934328	+	Silent	SNP	C	C	T	rs372254735	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:28934328C>T	ENST00000257192.4	+	15	2381	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.I82I|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	723					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.I723I(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATATGACATCGAAGGTGTAG	0.423													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0				p.I723I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2169T	18						.	C		1,4405	2.1+/-5.4	0,1,2202	129.0	127.0	128.0		2169	-1.8	1.0	18		128	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DSG1	NM_001942.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		723/1050	28934328	3,13003	2203	4300	6503	27188326	SO:0001819	synonymous_variant	1828	exon15			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2169C>T	18.37:g.28934328C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27188326	NM_001942	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.423	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG3	1830	broad.mit.edu	37	18	29044209	29044209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29044209G>T	ENST00000257189.4	+	9	1218	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E379*(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATGTAAGAGAAGGAATTGC	0.383																																					p.E379X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1135T	18						.						98.0	92.0	94.0					18																	29044209		2203	4300	6503	27298207	SO:0001587	stop_gained	1830	exon9			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1135G>T	18.37:g.29044209G>T	ENSP00000257189:p.Glu379*	Somatic		Capture	Illumina HiSeq	Phase_I	27298207	NM_001944	A8K2V2	Nonsense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	38	7.228531	0.98150	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.89	5.89	0.94794	.	0.000000	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8527	0.96746	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000257189:E379X	E	+	1	0	DSG3	27298207	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	7.265000	0.78442	2.783000	0.95769	0.655000	0.94253	GAA		0.383	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
SMCHD1	23347	broad.mit.edu	37	18	2743877	2743877	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:2743877C>A	ENST00000320876.6	+	29	4090	c.3752C>A	c.(3751-3753)tCt>tAt	p.S1251Y	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1251Y|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1251					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1251Y(2)|p.S699Y(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAACTAATTTCTGGACCTCCT	0.378																																					p.S1251Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3752A	18						.						90.0	83.0	85.0					18																	2743877		1835	4092	5927	2733877	SO:0001583	missense	23347	exon29			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3752C>A	18.37:g.2743877C>A	ENSP00000326603:p.Ser1251Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	2733877	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180435	0.57800	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25912	1.77;1.77	5.26	5.26	0.73747	.	0.111699	0.64402	D	0.000016	T	0.31606	0.0802	L	0.44542	1.39	0.33075	D	0.535805	D	0.56968	0.978	P	0.49012	0.598	T	0.46624	-0.9178	10	0.72032	D	0.01	-9.1189	14.9166	0.70801	0.0:0.8561:0.1439:0.0	.	1251	A6NHR9	SMHD1_HUMAN	Y	1251	ENSP00000326603:S1251Y;ENSP00000261598:S1251Y	ENSP00000261598:S1251Y	S	+	2	0	SMCHD1	2733877	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.740000	0.55082	2.425000	0.82216	0.585000	0.79938	TCT		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG3	1830	broad.mit.edu	37	18	29045374	29045374	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29045374T>G	ENST00000257189.4	+	10	1448	c.1365T>G	c.(1363-1365)acT>acG	p.T455T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T455T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGATTCTACTTTCATAGTTA	0.333																																					p.T455T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1365G	18						.						70.0	75.0	74.0					18																	29045374		2203	4300	6503	27299372	SO:0001819	synonymous_variant	1830	exon10			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1365T>G	18.37:g.29045374T>G		Somatic		Capture	Illumina HiSeq	Phase_I	27299372	NM_001944	A8K2V2	Silent	SNP	ENST00000257189.4	37	CCDS11898.1																																																																																				0.333	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
DSG2	1829	broad.mit.edu	37	18	29116266	29116266	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29116266G>A	ENST00000261590.8	+	11	1734	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	509					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D509N(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATCTGTCACGATGCAGAGTA	0.473																																					p.D509N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	18						.						94.0	87.0	89.0					18																	29116266		1963	4163	6126	27370264	SO:0001583	missense	1829	exon11			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1525G>A	18.37:g.29116266G>A	ENSP00000261590:p.Asp509Asn	Somatic		Capture	Illumina HiSeq	Phase_I	27370264	NM_001943	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	7.763	0.705745	0.15172	.	.	ENSG00000046604	ENST00000261590	T	0.58210	0.35	5.89	3.1	0.35709	.	0.408748	0.22969	N	0.053456	T	0.26810	0.0656	N	0.16307	0.4	0.09310	N	0.999997	B	0.30179	0.271	B	0.19148	0.024	T	0.16837	-1.0389	10	0.10636	T	0.68	.	6.3847	0.21554	0.1328:0.0:0.603:0.2642	.	509	Q14126	DSG2_HUMAN	N	509	ENSP00000261590:D509N	ENSP00000261590:D509N	D	+	1	0	DSG2	27370264	0.426000	0.25506	0.002000	0.10522	0.001000	0.01503	1.441000	0.35035	0.369000	0.24510	0.655000	0.94253	GAT		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
B4GALT6	9331	broad.mit.edu	37	18	29207022	29207022	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29207022A>C	ENST00000306851.5	-	7	1135	c.839T>G	c.(838-840)aTc>aGc	p.I280S	B4GALT6_ENST00000237019.7_Missense_Mutation_p.I241S|B4GALT6_ENST00000383131.3_Missense_Mutation_p.I241S	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	280					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.I280S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAAACCATTGATCTTTCTAAA	0.348																																					p.I280S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T839G	18						.						84.0	80.0	81.0					18																	29207022		2203	4300	6503	27461020	SO:0001583	missense	9331	exon7			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.839T>G	18.37:g.29207022A>C	ENSP00000306459:p.Ile280Ser	Somatic		Capture	Illumina HiSeq	Phase_I	27461020	NM_004775	O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016311	0.54468	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	D;D;D	0.85339	-1.97;-1.97;-1.97	5.74	4.58	0.56647	.	0.067112	0.64402	D	0.000010	D	0.91798	0.7405	M	0.90369	3.11	0.58432	D	0.999997	P;P;P	0.50443	0.935;0.92;0.935	P;P;P	0.57620	0.824;0.73;0.824	D	0.92350	0.5889	10	0.87932	D	0	-20.6657	11.6749	0.51424	0.9307:0.0:0.0693:0.0	.	241;241;280	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	S	280;241;241	ENSP00000306459:I280S;ENSP00000237019:I241S;ENSP00000372613:I241S	ENSP00000237019:I241S	I	-	2	0	B4GALT6	27461020	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	9.339000	0.96797	1.006000	0.39211	-0.263000	0.10527	ATC		0.348	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
EMILIN2	84034	broad.mit.edu	37	18	2890629	2890629	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:2890629G>T	ENST00000254528.3	+	4	663	c.504G>T	c.(502-504)tgG>tgT	p.W168C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	168					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.W168C(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AACCAAGCTGGGGGGTAGATC	0.483																																					p.W168C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G504T	18						.						54.0	57.0	56.0					18																	2890629		2203	4300	6503	2880629	SO:0001583	missense	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.504G>T	18.37:g.2890629G>T	ENSP00000254528:p.Trp168Cys	Somatic		Capture	Illumina HiSeq	Phase_I	2880629	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	9.310	1.055417	0.19907	.	.	ENSG00000132205	ENST00000254528	T	0.34072	1.38	4.65	-1.13	0.09775	.	0.942312	0.08912	N	0.875706	T	0.16642	0.0400	N	0.22421	0.69	0.09310	N	1	P	0.40032	0.699	B	0.26864	0.074	T	0.13737	-1.0498	10	0.54805	T	0.06	-0.2506	4.2105	0.10509	0.4634:0.1774:0.3592:0.0	.	168	Q9BXX0	EMIL2_HUMAN	C	168	ENSP00000254528:W168C	ENSP00000254528:W168C	W	+	3	0	EMILIN2	2880629	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.992000	0.29667	-0.096000	0.12329	0.557000	0.71058	TGG		0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
RNF138	51444	broad.mit.edu	37	18	29693800	29693800	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29693800C>A	ENST00000261593.3	+	4	827	c.369C>A	c.(367-369)atC>atA	p.I123I	RNF138_ENST00000257190.5_Intron|RP11-53I6.2_ENST00000583184.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	123					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.I123I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ACTTTCAGATCTCTCAAGATT	0.303																																					p.I123I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369A	18						.						66.0	61.0	63.0					18																	29693800		2202	4298	6500	27947798	SO:0001819	synonymous_variant	51444	exon4			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.369C>A	18.37:g.29693800C>A		Somatic		Capture	Illumina HiSeq	Phase_I	27947798	NM_016271	B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Silent	SNP	ENST00000261593.3	37	CCDS11903.1																																																																																				0.303	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271	
CCDC178	374864	broad.mit.edu	37	18	30804886	30804886	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:30804886G>T	ENST00000383096.3	-	17	1853	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Silent_p.S557S|CCDC178_ENST00000583930.1_Silent_p.S557S|CCDC178_ENST00000406524.2_Silent_p.S557S|CCDC178_ENST00000300227.8_Silent_p.S557S|CCDC178_ENST00000402325.1_Silent_p.S557S|CCDC178_ENST00000403303.1_Silent_p.S557S			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	557								p.S557S(2)									CTTCGTAAATGGAATATAGTT	0.353																																					p.S557S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1671A	18						.						63.0	61.0	62.0					18																	30804886		2202	4300	6502	29058884	SO:0001819	synonymous_variant	374864	exon17			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1671C>A	18.37:g.30804886G>T		Somatic		Capture	Illumina HiSeq	Phase_I	29058884	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	CCDS42424.1																																																																																				0.353	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
LPIN2	9663	broad.mit.edu	37	18	2921621	2921621	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:2921621C>A	ENST00000261596.4	-	18	2590	c.2352G>T	c.(2350-2352)gaG>gaT	p.E784D	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	784	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.E784D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTTGAACTTCTCTGGTTTCT	0.373																																					p.E784D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2352T	18						.						93.0	91.0	91.0					18																	2921621		2203	4300	6503	2911621	SO:0001583	missense	9663	exon18			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2352G>T	18.37:g.2921621C>A	ENSP00000261596:p.Glu784Asp	Somatic		Capture	Illumina HiSeq	Phase_I	2911621	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165147	0.78339	.	.	ENSG00000101577	ENST00000261596	T	0.74842	-0.88	5.78	3.97	0.46021	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85465	0.1169	10	0.62326	D	0.03	-33.4817	11.3396	0.49525	0.0:0.8176:0.0:0.1824	.	784	Q92539	LPIN2_HUMAN	D	784	ENSP00000261596:E784D	ENSP00000261596:E784D	E	-	3	2	LPIN2	2911621	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.348000	0.20031	2.734000	0.93682	0.563000	0.77884	GAG		0.373	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	
CCDC178	374864	broad.mit.edu	37	18	30825352	30825352	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:30825352A>C	ENST00000383096.3	-	15	1632	c.1450T>G	c.(1450-1452)Ttg>Gtg	p.L484V	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.L484V|CCDC178_ENST00000583930.1_Missense_Mutation_p.L484V|CCDC178_ENST00000406524.2_Missense_Mutation_p.L484V|CCDC178_ENST00000300227.8_Missense_Mutation_p.L484V|CCDC178_ENST00000402325.1_Missense_Mutation_p.L484V|CCDC178_ENST00000403303.1_Missense_Mutation_p.L484V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	484								p.L484V(2)									ATTATTGTCAAATATTTTATT	0.279																																					p.L484V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1450G	18						.						99.0	89.0	93.0					18																	30825352		2202	4297	6499	29079350	SO:0001583	missense	374864	exon15			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1450T>G	18.37:g.30825352A>C	ENSP00000372576:p.Leu484Val	Somatic		Capture	Illumina HiSeq	Phase_I	29079350	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	5.679	0.309839	0.10733	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.75	2.25	0.28309	.	.	.	.	.	T	0.43853	0.1266	L	0.48642	1.525	0.09310	N	1	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.56823	0.807;0.807;0.807;0.807	T	0.20438	-1.0275	9	0.28530	T	0.3	-3.6529	3.9882	0.09525	0.719:0.0:0.0989:0.1821	.	484;484;484;484	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	V	484	ENSP00000385591:L484V;ENSP00000372576:L484V;ENSP00000300227:L484V;ENSP00000385867:L484V;ENSP00000385234:L484V	ENSP00000300227:L484V	L	-	1	2	C18orf34	29079350	0.043000	0.20138	0.005000	0.12908	0.006000	0.05464	0.995000	0.29706	0.366000	0.24427	0.460000	0.39030	TTG		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
ASXL3	80816	broad.mit.edu	37	18	31241693	31241693	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:31241693C>A	ENST00000269197.5	+	5	469	c.469C>A	c.(469-471)Ctt>Att	p.L157I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L157I(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAAGGCTCTTAAACAGGT	0.403																																					p.L157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	18						.						70.0	66.0	68.0					18																	31241693		1916	4140	6056	29495691	SO:0001583	missense	80816	exon5			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.469C>A	18.37:g.31241693C>A	ENSP00000269197:p.Leu157Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29495691	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473839	0.84640	.	.	ENSG00000141431	ENST00000269197	T	0.18810	2.19	5.64	5.64	0.86602	.	.	.	.	.	T	0.45236	0.1332	L	0.58810	1.83	0.40368	D	0.979315	D	0.76494	0.999	D	0.78314	0.991	T	0.08827	-1.0703	9	0.37606	T	0.19	.	20.0625	0.97681	0.0:1.0:0.0:0.0	.	157	Q9C0F0	ASXL3_HUMAN	I	157	ENSP00000269197:L157I	ENSP00000269197:L157I	L	+	1	0	ASXL3	29495691	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.677000	0.68142	2.816000	0.96949	0.561000	0.74099	CTT		0.403	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31314355	31314355	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:31314355T>C	ENST00000269197.5	+	10	1058	c.1058T>C	c.(1057-1059)tTc>tCc	p.F353S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F353S(1)|p.F60S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAGAAAAATTCTTTGAGAGG	0.333																																					p.F353S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1058C	18						.						46.0	46.0	46.0					18																	31314355		1790	4055	5845	29568353	SO:0001583	missense	80816	exon10			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1058T>C	18.37:g.31314355T>C	ENSP00000269197:p.Phe353Ser	Somatic		Capture	Illumina HiSeq	Phase_I	29568353	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489323	0.84962	.	.	ENSG00000141431	ENST00000269197	T	0.32753	1.44	5.71	5.71	0.89125	.	0.467459	0.22918	N	0.054049	T	0.53981	0.1830	M	0.63843	1.955	0.48901	D	0.999721	D	0.89917	1.0	D	0.91635	0.999	T	0.53315	-0.8456	10	0.52906	T	0.07	.	15.9818	0.80116	0.0:0.0:0.0:1.0	.	353	Q9C0F0	ASXL3_HUMAN	S	353	ENSP00000269197:F353S	ENSP00000269197:F353S	F	+	2	0	ASXL3	29568353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.573000	0.82421	2.180000	0.69256	0.377000	0.23210	TTC		0.333	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31319969	31319969	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:31319969C>T	ENST00000269197.5	+	11	2601	c.2601C>T	c.(2599-2601)agC>agT	p.S867S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S867S(1)|p.S574S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAATCATAGCGTCCTGCAAA	0.383																																					p.S867S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2601T	18						.						86.0	86.0	86.0					18																	31319969		1867	4099	5966	29573967	SO:0001819	synonymous_variant	80816	exon11			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2601C>T	18.37:g.31319969C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29573967	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.383	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31323745	31323745	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:31323745C>A	ENST00000269197.5	+	12	3933	c.3933C>A	c.(3931-3933)ggC>ggA	p.G1311G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1311	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1311G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTACAGAGGGCTCCAGCATAT	0.433																																					p.G1311G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3933A	18						.						129.0	130.0	130.0					18																	31323745		1988	4182	6170	29577743	SO:0001819	synonymous_variant	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3933C>A	18.37:g.31323745C>A		Somatic		Capture	Illumina HiSeq	Phase_I	29577743	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.433	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
MYOM1	8736	broad.mit.edu	37	18	3067390	3067390	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:3067390T>C	ENST00000356443.4	-	38	5261	c.4928A>G	c.(4927-4929)aAa>aGa	p.K1643R	MYOM1_ENST00000400569.3_Missense_Mutation_p.K1643R|MYOM1_ENST00000261606.7_Missense_Mutation_p.K1547R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1643	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.K1643R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCCCGTATTTGCCCGAGTC	0.607																																					p.K1643R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4928G	18						.						75.0	79.0	77.0					18																	3067390		2203	4300	6503	3057390	SO:0001583	missense	8736	exon38			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4928A>G	18.37:g.3067390T>C	ENSP00000348821:p.Lys1643Arg	Somatic		Capture	Illumina HiSeq	Phase_I	3057390	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427452	0.43122	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.68479	-0.33;-0.33;-0.33	5.79	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.151669	0.64402	N	0.000016	T	0.52208	0.1720	L	0.31294	0.92	0.39884	D	0.973676	B;B	0.18461	0.028;0.01	B;B	0.22386	0.039;0.019	T	0.45848	-0.9233	10	0.26408	T	0.33	.	9.6613	0.39956	0.0:0.1393:0.0:0.8607	.	1547;1643	P52179-2;P52179	.;MYOM1_HUMAN	R	1643;1643;1547	ENSP00000348821:K1643R;ENSP00000383413:K1643R;ENSP00000261606:K1547R	ENSP00000261606:K1547R	K	-	2	0	MYOM1	3057390	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	1.845000	0.39279	1.023000	0.39654	0.533000	0.62120	AAA		0.607	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ASXL3	80816	broad.mit.edu	37	18	31325056	31325056	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:31325056G>A	ENST00000269197.5	+	12	5244	c.5244G>A	c.(5242-5244)ccG>ccA	p.P1748P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1748					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1748P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTAACAATCCGCTGGTGACGC	0.547																																					p.P1748P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5244A	18						.						66.0	67.0	66.0					18																	31325056		2001	4192	6193	29579054	SO:0001819	synonymous_variant	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5244G>A	18.37:g.31325056G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29579054	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.547	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
MAPRE2	10982	broad.mit.edu	37	18	32650251	32650251	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32650251C>A	ENST00000300249.5	+	2	395	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	MAPRE2_ENST00000588910.1_Missense_Mutation_p.S72Y|MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000436190.2_Missense_Mutation_p.S60Y|MAPRE2_ENST00000413393.1_Missense_Mutation_p.S29Y|MAPRE2_ENST00000589699.1_Missense_Mutation_p.S29Y	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	72	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.S72Y(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GACATAGTATCTTTAAACTAC	0.358																																					p.S60Y												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C179A	18						.						126.0	116.0	119.0					18																	32650251		2203	4300	6503	30904249	SO:0001583	missense	10982	exon3			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.215C>A	18.37:g.32650251C>A	ENSP00000300249:p.Ser72Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30904249	NM_001143827	B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673869	0.67928	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249	T;T;T	0.44482	0.92;0.92;0.92	5.48	5.48	0.80851	Calponin homology domain (4);	0.173838	0.52532	D	0.000070	T	0.48607	0.1509	L	0.57536	1.79	0.32445	N	0.546182	B;P;B	0.37688	0.445;0.605;0.231	P;P;B	0.44422	0.449;0.449;0.242	T	0.63589	-0.6603	10	0.72032	D	0.01	-9.7368	14.2038	0.65721	0.1495:0.8505:0.0:0.0	.	60;72;72	E9PHR3;Q15555;Q15555-2	.;MARE2_HUMAN;.	Y	29;60;72	ENSP00000396074:S29Y;ENSP00000407723:S60Y;ENSP00000300249:S72Y	ENSP00000300249:S72Y	S	+	2	0	MAPRE2	30904249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.277000	0.58939	2.548000	0.85928	0.655000	0.94253	TCT		0.358	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268	
MAPRE2	10982	broad.mit.edu	37	18	32677547	32677547	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32677547G>A	ENST00000300249.5	+	3	568	c.388G>A	c.(388-390)Gtt>Att	p.V130I	MAPRE2_ENST00000588910.1_Missense_Mutation_p.V130I|MAPRE2_ENST00000538170.2_Missense_Mutation_p.V77I|MAPRE2_ENST00000436190.2_Missense_Mutation_p.V118I|MAPRE2_ENST00000413393.1_Missense_Mutation_p.V87I|MAPRE2_ENST00000589699.1_Missense_Mutation_p.V87I	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	130	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.V130I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GCGAATGAACGTTGATAAGGT	0.333																																					p.V118I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	18						.						61.0	60.0	60.0					18																	32677547		2203	4300	6503	30931545	SO:0001583	missense	10982	exon4			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.388G>A	18.37:g.32677547G>A	ENSP00000300249:p.Val130Ile	Somatic		Capture	Illumina HiSeq	Phase_I	30931545	NM_001143827	B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521627	0.96416	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.88	5.88	0.94601	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.44542	1.39	0.80722	D	1	P;D;D;B	0.69078	0.944;0.996;0.997;0.276	D;D;D;P	0.91635	0.96;0.998;0.999;0.474	T	0.41197	-0.9522	10	0.15952	T	0.53	-14.6594	20.2178	0.98301	0.0:0.0:1.0:0.0	.	118;77;130;130	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	I	87;118;130;77	ENSP00000396074:V87I;ENSP00000407723:V118I;ENSP00000300249:V130I;ENSP00000446343:V77I	ENSP00000300249:V130I	V	+	1	0	MAPRE2	30931545	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.782000	0.95742	0.585000	0.79938	GTT		0.333	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268	
ZSCAN30	100101467	broad.mit.edu	37	18	32834304	32834304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32834304C>A	ENST00000420878.3	-	5	1050	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ZNF397_ENST00000355632.4_Missense_Mutation_p.S222Y|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.S252Y|ZSCAN30_ENST00000333206.5_Nonsense_Mutation_p.E199*|ZNF397_ENST00000589420.1_3'UTR	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	199					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)	p.S252Y(1)|p.E199*(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						TCAACAATTTCTTGCTTTGCC	0.428																																					p.E199X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G595T	18						.						119.0	102.0	108.0					18																	32834304		2203	4300	6503	31088302	SO:0001587	stop_gained	100101467	exon5			AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.595G>T	18.37:g.32834304C>A	ENSP00000392371:p.Glu199*	Somatic		Capture	Illumina HiSeq	Phase_I	31088302	NM_001166012	B4E0N0|Q6ZNB3|Q96PN3	Nonsense_Mutation	SNP	ENST00000420878.3	37	CCDS42427.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	39|39|39	7.356756|7.356756|7.356756	0.98235|0.98235|0.98235	.|.|.	.|.|.	ENSG00000186814|ENSG00000186814|ENSG00000186812	ENST00000420878;ENST00000333206|ENST00000360932|ENST00000261333;ENST00000355632	.|.|T;T	.|.|0.03212	.|.|4.03;4.01	3.65|3.65|3.65	3.65|3.65|3.65	0.41850|0.41850|0.41850	.|.|.	0.230487|.|.	0.22340|.|.	N|.|.	0.061355|.|.	.|T|T	.|0.06416|0.06416	.|0.0165|0.0165	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;P	.|.|0.41214	.|.|0.742;0.713	.|.|B;P	.|.|0.45712	.|.|0.296;0.491	.|T|T	.|0.15037|0.15037	.|-1.0451|-1.0451	.|5|8	0.10377|0.22706|0.56958	T|T|D	0.69|0.39|0.05	.|.|.	8.6967|8.6967|8.6967	0.34301|0.34301|0.34301	0.2267:0.7733:0.0:0.0|0.2267:0.7733:0.0:0.0|0.2267:0.7733:0.0:0.0	.|.|.	.|.|222;252	.|.|Q96K65;Q8NF99-2	.|.|.;.	X|I|Y	199|138|252;222	.|.|ENSP00000261333:S252Y;ENSP00000347850:S222Y	ENSP00000329738:E199X|ENSP00000354188:R138I|ENSP00000261333:S252Y	E|R|S	-|-|+	1|2|2	0|0|0	ZSCAN30|ZSCAN30|ZNF397	31088302|31088302|31088302	0.465000|0.465000|0.465000	0.25815|0.25815|0.25815	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.958000|0.958000|0.958000	0.62258|0.62258|0.62258	2.243000|2.243000|2.243000	0.43115|0.43115|0.43115	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.643000|0.643000|0.643000	0.83706|0.83706|0.83706	GAA|AGA|TCT		0.428	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734	
ZNF24	7572	broad.mit.edu	37	18	32917255	32917255	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32917255G>T	ENST00000261332.6	-	4	1227	c.1048C>A	c.(1048-1050)Ctt>Att	p.L350I	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.L350I	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	350					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L350I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGTCTAAAAAGATTTGAGCTT	0.353																																					p.L350I	Colon(42;769 913 8916 19469 46270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048A	18						.						87.0	90.0	89.0					18																	32917255		2203	4300	6503	31171253	SO:0001583	missense	7572	exon4			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.1048C>A	18.37:g.32917255G>T	ENSP00000261332:p.Leu350Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31171253	NM_006965	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831502	0.50845	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.10860	2.83;2.83	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.128324	0.36002	N	0.002852	T	0.33673	0.0871	M	0.89478	3.035	0.28526	N	0.912824	D	0.52996	0.957	P	0.55260	0.772	T	0.33033	-0.9884	10	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:1.0:0.0	.	350	P17028	ZNF24_HUMAN	I	350	ENSP00000261332:L350I;ENSP00000382015:L350I	ENSP00000261332:L350I	L	-	1	0	ZNF24	31171253	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	2.485000	0.45250	2.679000	0.91253	0.655000	0.94253	CTT		0.353	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965	
MYOM1	8736	broad.mit.edu	37	18	3164279	3164279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:3164279G>A	ENST00000356443.4	-	10	1831	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R500*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R500*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	500					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R500*(3)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTTACCTCGAACAAAGACA	0.353																																					p.R500X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C1498T	18						.						65.0	60.0	62.0					18																	3164279		1930	4157	6087	3154279	SO:0001587	stop_gained	8736	exon10			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1498C>T	18.37:g.3164279G>A	ENSP00000348821:p.Arg500*	Somatic		Capture	Illumina HiSeq	Phase_I	3154279	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	42	9.202934	0.99099	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	4.94	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	12.2713	0.54708	0.0:0.0:0.6913:0.3087	.	.	.	.	X	500	.	ENSP00000261606:R500X	R	-	1	2	MYOM1	3154279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.492000	0.53259	1.234000	0.43709	0.563000	0.77884	CGA		0.353	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ZNF396	252884	broad.mit.edu	37	18	32949324	32949324	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32949324A>G	ENST00000589332.1	-	4	994	c.863T>C	c.(862-864)tTc>tCc	p.F288S	ZNF396_ENST00000306346.1_Missense_Mutation_p.F288S			Q96N95	ZN396_HUMAN	zinc finger protein 396	288					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F288S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCTTCGGCTGAATGCCTTTGC	0.453																																					p.F288S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T863C	18						.						127.0	121.0	123.0					18																	32949324		2203	4300	6503	31203322	SO:0001583	missense	252884	exon4			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.863T>C	18.37:g.32949324A>G	ENSP00000466500:p.Phe288Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31203322	NM_145756	A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	A	16.35	3.098616	0.56183	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.44482	0.92	3.96	3.96	0.45880	.	0.000000	0.38663	U	0.001609	T	0.64638	0.2616	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69975	-0.4999	10	0.87932	D	0	.	11.0899	0.48110	1.0:0.0:0.0:0.0	.	288	Q96N95-3	.	S	288	ENSP00000302310:F288S	ENSP00000302310:F288S	F	-	2	0	ZNF396	31203322	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	8.720000	0.91442	1.785000	0.52413	0.528000	0.53228	TTC		0.453	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756	
SLC39A6	25800	broad.mit.edu	37	18	33694127	33694127	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:33694127G>A	ENST00000590986.1	-	7	2065	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	SLC39A6_ENST00000440549.2_Silent_p.V317V|SLC39A6_ENST00000269187.5_Silent_p.V592V			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	592					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.V592V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCAGAGTGGCGACGCCGGCAT	0.493																																					p.V317V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	18						.						112.0	117.0	115.0					18																	33694127		2177	4275	6452	31948125	SO:0001819	synonymous_variant	25800	exon6			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1776C>T	18.37:g.33694127G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31948125	NM_001099406	B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	CCDS42428.1																																																																																				0.493	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1		
ELP2	55250	broad.mit.edu	37	18	33744583	33744583	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:33744583G>A	ENST00000358232.6	+	18	1970	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	ELP2_ENST00000542824.1_Missense_Mutation_p.R566Q|ELP2_ENST00000442325.2_Missense_Mutation_p.R701Q|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Missense_Mutation_p.R566Q|ELP2_ENST00000350494.6_Missense_Mutation_p.R631Q|ELP2_ENST00000351393.6_Missense_Mutation_p.R610Q	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	636					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.R636Q(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TCCAGAGATCGAACCTGGTCA	0.403																																					p.R636Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1907A	18						.						83.0	76.0	78.0					18																	33744583		2203	4300	6503	31998581	SO:0001583	missense	55250	exon18			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1907G>A	18.37:g.33744583G>A	ENSP00000350967:p.Arg636Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31998581	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.738906	0.96873	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.66460	-0.21;0.1;1.01;0.1;0.1;-0.21	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.68593	2.085	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	0.85130	0.995;0.995;0.99;0.992;0.997;0.994	T	0.79745	-0.1674	10	0.46703	T	0.11	-13.7147	17.5309	0.87814	0.0:0.0:1.0:0.0	.	631;701;566;566;610;636	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	Q	636;610;701;566;631;566	ENSP00000350967:R636Q;ENSP00000257191:R610Q;ENSP00000414851:R701Q;ENSP00000391202:R566Q;ENSP00000316051:R631Q;ENSP00000443800:R566Q	ENSP00000316051:R631Q	R	+	2	0	ELP2	31998581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.750000	0.98875	2.734000	0.93682	0.655000	0.94253	CGA		0.403	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
MOCOS	55034	broad.mit.edu	37	18	33775272	33775272	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:33775272C>T	ENST00000261326.5	+	2	216	c.195C>T	c.(193-195)ctC>ctT	p.L65L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.L65L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGCCAGCTCGAAAGCTTCA	0.393																																					p.L65L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	18						.						134.0	137.0	136.0					18																	33775272		2203	4300	6503	32029270	SO:0001819	synonymous_variant	55034	exon2			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.195C>T	18.37:g.33775272C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32029270	NM_017947		Silent	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																				0.393	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
FHOD3	80206	broad.mit.edu	37	18	34182717	34182717	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:34182717A>C	ENST00000359247.4	+	8	799	c.799A>C	c.(799-801)Act>Cct	p.T267P	FHOD3_ENST00000257209.4_Missense_Mutation_p.T267P|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.T267P|FHOD3_ENST00000445677.1_Missense_Mutation_p.T267P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	267	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		p.T267P(1)		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)				TTATGCAATGACTTTGGTGAA	0.418																																					p.T267P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A799C	18						.						231.0	211.0	218.0					18																	34182717		2203	4300	6503	32436715	SO:0001583	missense	80206	exon8			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.799A>C	18.37:g.34182717A>C	ENSP00000352186:p.Thr267Pro	Somatic		Capture	Illumina HiSeq	Phase_I	32436715	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.515689	0.85389	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.27890	1.64;1.64;1.64	5.58	5.58	0.84498	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.81802	2.56	0.53688	D	0.999975	D;D;D;D	0.89917	0.987;0.999;1.0;0.999	D;D;D;D	0.91635	0.977;0.998;0.999;0.998	T	0.64093	-0.6488	10	0.87932	D	0	.	14.5738	0.68232	1.0:0.0:0.0:0.0	.	267;267;267;267	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	P	267	ENSP00000257209:T267P;ENSP00000352186:T267P;ENSP00000411430:T267P	ENSP00000257209:T267P	T	+	1	0	FHOD3	32436715	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.356000	0.79445	2.129000	0.65627	0.533000	0.62120	ACT		0.418	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
COLEC12	81035	broad.mit.edu	37	18	346877	346877	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:346877G>T	ENST00000400256.3	-	5	952	c.745C>A	c.(745-747)Ctt>Att	p.L249I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	249					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L249I(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGCTTGAAGAAAAACCTGC	0.517																																					p.L249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745A	18						.						99.0	91.0	94.0					18																	346877		2203	4300	6503	336877	SO:0001583	missense	81035	exon5			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.745C>A	18.37:g.346877G>T	ENSP00000383115:p.Leu249Ile	Somatic		Capture	Illumina HiSeq	Phase_I	336877	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652291	0.47362	.	.	ENSG00000158270	ENST00000400256	T	0.78003	-1.14	6.01	5.14	0.70334	.	0.054815	0.64402	D	0.000001	T	0.64853	0.2636	N	0.24115	0.695	0.36325	D	0.858491	P	0.39282	0.666	B	0.33339	0.162	T	0.73235	-0.4047	10	0.51188	T	0.08	-4.7107	15.4222	0.75022	0.0667:0.0:0.9333:0.0	.	249	Q5KU26	COL12_HUMAN	I	249	ENSP00000383115:L249I	ENSP00000383115:L249I	L	-	1	0	COLEC12	336877	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.973000	0.49264	1.557000	0.49525	0.655000	0.94253	CTT		0.517	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
COLEC12	81035	broad.mit.edu	37	18	348071	348071	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:348071T>G	ENST00000400256.3	-	4	481	c.274A>C	c.(274-276)Aaa>Caa	p.K92Q		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	92					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.K92Q(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTACCTAATTTTTTCAGGTCA	0.403																																					p.K92Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A274C	18						.						220.0	174.0	190.0					18																	348071		2203	4300	6503	338071	SO:0001583	missense	81035	exon4			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.274A>C	18.37:g.348071T>G	ENSP00000383115:p.Lys92Gln	Somatic		Capture	Illumina HiSeq	Phase_I	338071	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454975	0.43634	.	.	ENSG00000158270	ENST00000400256	T	0.51817	0.69	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.34521	1.04	0.54753	D	0.999987	D	0.71674	0.998	D	0.78314	0.991	T	0.57688	-0.7768	10	0.42905	T	0.14	-19.8873	15.0683	0.72014	0.0:0.0:0.0:1.0	.	92	Q5KU26	COL12_HUMAN	Q	92	ENSP00000383115:K92Q	ENSP00000383115:K92Q	K	-	1	0	COLEC12	338071	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.225000	0.78051	1.966000	0.57179	0.533000	0.62120	AAA		0.403	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
KIAA1328	57536	broad.mit.edu	37	18	34539376	34539376	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:34539376C>T	ENST00000280020.5	+	6	576	c.554C>T	c.(553-555)gCt>gTt	p.A185V	KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.A181V|KIAA1328_ENST00000543923.1_Missense_Mutation_p.A77V	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	185								p.A185V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GAACTTGGTGCTGCTAGAATG	0.388																																					p.A185V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554T	18						.						89.0	85.0	87.0					18																	34539376		1851	4106	5957	32793374	SO:0001583	missense	57536	exon6			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.554C>T	18.37:g.34539376C>T	ENSP00000280020:p.Ala185Val	Somatic		Capture	Illumina HiSeq	Phase_I	32793374	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620617	0.87460	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.51071	0.72;0.72	5.57	5.57	0.84162	.	0.354120	0.30168	N	0.010242	T	0.62768	0.2455	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.60682	0.878;0.808	T	0.62900	-0.6756	10	0.62326	D	0.03	.	18.1625	0.89714	0.0:1.0:0.0:0.0	.	185;185	A8K8C3;Q86T90	.;K1328_HUMAN	V	77;185;185	ENSP00000441359:A77V;ENSP00000280020:A185V	ENSP00000280020:A185V	A	+	2	0	KIAA1328	32793374	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.187000	0.50950	2.789000	0.95967	0.650000	0.86243	GCT		0.388	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
SYT4	6860	broad.mit.edu	37	18	40850449	40850449	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:40850449A>C	ENST00000255224.3	-	4	1503	c.1135T>G	c.(1135-1137)Tct>Gct	p.S379A	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.S361A	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	379	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S379A(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCCCTTTCAGAATCCAAAACC	0.463																																					p.S379A	NSCLC(85;81 1419 2855 22820 35912)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1135G	18						.						106.0	106.0	106.0					18																	40850449		2203	4300	6503	39104447	SO:0001583	missense	6860	exon4			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1135T>G	18.37:g.40850449A>C	ENSP00000255224:p.Ser379Ala	Somatic		Capture	Illumina HiSeq	Phase_I	39104447	NM_020783	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524593	0.64747	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.69685	-0.42	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	L	0.38733	1.17	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.61003	0.882;0.882	T	0.75266	-0.3378	10	0.62326	D	0.03	.	15.7524	0.77997	1.0:0.0:0.0:0.0	.	361;379	B4DEU3;Q9H2B2	.;SYT4_HUMAN	A	379;184	ENSP00000255224:S379A	ENSP00000255224:S379A	S	-	1	0	SYT4	39104447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.136000	0.66102	0.533000	0.62120	TCT		0.463	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
SYT4	6860	broad.mit.edu	37	18	40854127	40854127	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:40854127C>A	ENST00000255224.3	-	2	635	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K71N	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	89					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.K89N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAATGAATTCTTTGGCACAG	0.393																																					p.K89N	NSCLC(85;81 1419 2855 22820 35912)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G267T	18						.						143.0	139.0	141.0					18																	40854127		2203	4300	6503	39108125	SO:0001583	missense	6860	exon2			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.267G>T	18.37:g.40854127C>A	ENSP00000255224:p.Lys89Asn	Somatic		Capture	Illumina HiSeq	Phase_I	39108125	NM_020783	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962031	0.34659	.	.	ENSG00000132872	ENST00000255224	T	0.38077	1.16	5.86	3.07	0.35406	.	0.088246	0.85682	N	0.000000	T	0.22044	0.0531	N	0.22421	0.69	0.36453	D	0.866228	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.11518	-1.0584	10	0.25751	T	0.34	.	9.1087	0.36714	0.0:0.7402:0.1261:0.1336	.	71;89	B4DEU3;Q9H2B2	.;SYT4_HUMAN	N	89	ENSP00000255224:K89N	ENSP00000255224:K89N	K	-	3	2	SYT4	39108125	0.999000	0.42202	0.998000	0.56505	0.965000	0.64279	0.585000	0.23879	0.456000	0.26937	0.650000	0.86243	AAG		0.393	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
SYT4	6860	broad.mit.edu	37	18	40854304	40854304	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:40854304G>T	ENST00000255224.3	-	2	458	c.90C>A	c.(88-90)gtC>gtA	p.V30V	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.V12V	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	30					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.V30V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAGAGAGAGACTGTGAAGA	0.413																																					p.V30V	NSCLC(85;81 1419 2855 22820 35912)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C90A	18						.						57.0	55.0	55.0					18																	40854304		2203	4300	6503	39108302	SO:0001819	synonymous_variant	6860	exon2			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.90C>A	18.37:g.40854304G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39108302	NM_020783	B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	CCDS11922.1																																																																																				0.413	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
SETBP1	26040	broad.mit.edu	37	18	42530439	42530439	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:42530439A>C	ENST00000282030.5	+	4	1430	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	378						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q378H(1)|p.Q324H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATAGTGCCCAAGAGGCATCAC	0.493									Schinzel-Giedion syndrome																												p.Q378H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1134C	18						.						47.0	46.0	46.0					18																	42530439		2203	4300	6503	40784437	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1134A>C	18.37:g.42530439A>C	ENSP00000282030:p.Gln378His	Somatic		Capture	Illumina HiSeq	Phase_I	40784437	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	7.299	0.612668	0.14066	.	.	ENSG00000152217	ENST00000282030	T	0.36340	1.26	5.78	-0.766	0.11020	.	0.203460	0.43110	D	0.000603	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	P	0.48503	0.911	B	0.44163	0.443	T	0.21724	-1.0237	10	0.59425	D	0.04	.	9.1683	0.37065	0.522:0.0992:0.3789:0.0	.	378	Q9Y6X0	SETBP_HUMAN	H	378	ENSP00000282030:Q378H	ENSP00000282030:Q378H	Q	+	3	2	SETBP1	40784437	0.097000	0.21791	0.958000	0.39756	0.006000	0.05464	0.499000	0.22546	-0.563000	0.06078	-2.200000	0.00306	CAA		0.493	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42643265	42643265	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:42643265G>A	ENST00000282030.5	+	6	4689	c.4393G>A	c.(4393-4395)Gat>Aat	p.D1465N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1465						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1465N(1)|p.D1411N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACCCAGTTCGATGAGGACTC	0.587									Schinzel-Giedion syndrome																												p.D1465N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4393A	18						.						31.0	28.0	29.0					18																	42643265		2201	4299	6500	40897263	SO:0001583	missense	26040	exon6	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4393G>A	18.37:g.42643265G>A	ENSP00000282030:p.Asp1465Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40897263	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302992	0.60195	.	.	ENSG00000152217	ENST00000282030	T	0.69306	-0.39	5.16	5.16	0.70880	.	0.131843	0.48767	D	0.000177	T	0.58892	0.2154	L	0.27053	0.805	0.35690	D	0.81481	P	0.39624	0.681	B	0.39419	0.299	T	0.71130	-0.4682	10	0.66056	D	0.02	.	18.6082	0.91273	0.0:0.0:1.0:0.0	.	1465	Q9Y6X0	SETBP_HUMAN	N	1465	ENSP00000282030:D1465N	ENSP00000282030:D1465N	D	+	1	0	SETBP1	40897263	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.201000	0.95017	2.556000	0.86216	0.563000	0.77884	GAT		0.587	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SLC14A2	8170	broad.mit.edu	37	18	43247877	43247877	+	Silent	SNP	C	C	T	rs369173950		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43247877C>T	ENST00000255226.6	+	14	2613	c.1797C>T	c.(1795-1797)agC>agT	p.S599S	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.S76S|SLC14A2_ENST00000586448.1_Silent_p.S599S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	599					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.S599S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCCCTCAGCGGCATCCTCA	0.567																																					p.S599S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1797T	18						.	C	,	0,4406		0,0,2203	167.0	159.0	162.0		1797,1797	-3.7	0.9	18		162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	599/921,599/921	43247877	2,13004	2203	4300	6503	41501875	SO:0001819	synonymous_variant	8170	exon14			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1797C>T	18.37:g.43247877C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41501875	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.567	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
EPG5	57724	broad.mit.edu	37	18	43508946	43508946	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43508946C>A	ENST00000282041.5	-	13	2476	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	814					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E814D(1)		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						TTGAAAAAGTCTCTCTGGTAG	0.418																																					p.E814D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2442T	18						.						98.0	89.0	92.0					18																	43508946		1860	4096	5956	41762944	SO:0001583	missense	57724	exon13			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.2442G>T	18.37:g.43508946C>A	ENSP00000282041:p.Glu814Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41762944	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466747	0.63625	.	.	ENSG00000152223	ENST00000282041	T	0.10477	2.87	6.03	3.09	0.35607	.	0.966882	0.08663	N	0.912157	T	0.29028	0.0721	M	0.65498	2.005	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.00785	-1.1567	10	0.29301	T	0.29	-19.9769	8.809	0.34956	0.0:0.6207:0.0:0.3792	.	814;814	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	814	ENSP00000282041:E814D	ENSP00000282041:E814D	E	-	3	2	EPG5	41762944	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.300000	0.19156	0.337000	0.23665	0.655000	0.94253	GAG		0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43519590	43519590	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43519590A>G	ENST00000282041.5	-	10	2109	c.2075T>C	c.(2074-2076)gTc>gCc	p.V692A		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	692					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.V692A(1)		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						CACATGTAGGACAGCCCTCAA	0.428																																					p.V692A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2075C	18						.						132.0	118.0	122.0					18																	43519590		1876	4114	5990	41773588	SO:0001583	missense	57724	exon10			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.2075T>C	18.37:g.43519590A>G	ENSP00000282041:p.Val692Ala	Somatic		Capture	Illumina HiSeq	Phase_I	41773588	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598530	0.87055	.	.	ENSG00000152223	ENST00000282041	T	0.12465	2.68	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000033	T	0.34658	0.0905	L	0.59436	1.845	0.51767	D	0.999934	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.05257	-1.0896	10	0.72032	D	0.01	-15.4337	15.423	0.75028	1.0:0.0:0.0:0.0	.	692;692	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	A	692	ENSP00000282041:V692A	ENSP00000282041:V692A	V	-	2	0	EPG5	41773588	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	8.516000	0.90552	2.037000	0.60232	0.379000	0.24179	GTC		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43531190	43531190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43531190C>A	ENST00000282041.5	-	4	1301	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	423					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E423*(1)		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						GGAATGCTTTCTGTCTGCTTA	0.348																																					p.E423X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1267T	18						.						90.0	78.0	81.0					18																	43531190		1861	4106	5967	41785188	SO:0001587	stop_gained	57724	exon4			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.1267G>T	18.37:g.43531190C>A	ENSP00000282041:p.Glu423*	Somatic		Capture	Illumina HiSeq	Phase_I	41785188	NM_020964	A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	39	7.358059	0.98235	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.33	5.33	0.75918	.	0.107189	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.0877	13.6665	0.62398	0.0:0.9254:0.0:0.0746	.	.	.	.	X	423	.	ENSP00000282041:E423X	E	-	1	0	EPG5	41785188	0.997000	0.39634	0.781000	0.31783	0.953000	0.61014	3.481000	0.53179	2.650000	0.89964	0.561000	0.74099	GAA		0.348	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ATP5A1	498	broad.mit.edu	37	18	43671724	43671724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43671724C>T	ENST00000398752.6	-	3	354	c.233G>A	c.(232-234)gGt>gAt	p.G78D	ATP5A1_ENST00000593152.2_Missense_Mutation_p.G28D|ATP5A1_ENST00000591267.1_5'Flank|ATP5A1_ENST00000590665.1_Missense_Mutation_p.G78D|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G78D	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	78					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.G78D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AATACCATCACCAATACTTAA	0.413																																					p.G78D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	18						.						114.0	109.0	111.0					18																	43671724		2203	4300	6503	41925722	SO:0001583	missense	498	exon3			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.233G>A	18.37:g.43671724C>T	ENSP00000381736:p.Gly78Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41925722	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234583	0.95207	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.86432	-2.12;-2.12	5.24	5.24	0.73138	ATPase, F1/A1 complex, alpha subunit, N-terminal (1);ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.050730	0.85682	D	0.000000	D	0.95720	0.8608	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96972	0.9709	10	0.87932	D	0	-12.6023	18.8287	0.92128	0.0:1.0:0.0:0.0	.	78	P25705	ATPA_HUMAN	D	78;78;28	ENSP00000282050:G78D;ENSP00000381736:G78D	ENSP00000282050:G78D	G	-	2	0	ATP5A1	41925722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.438000	0.82558	0.655000	0.94253	GGT		0.413	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
RNF165	494470	broad.mit.edu	37	18	44036534	44036534	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:44036534G>A	ENST00000269439.7	+	8	1027	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	RNF165_ENST00000543885.1_Missense_Mutation_p.A134T	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	326							zinc ion binding (GO:0008270)	p.A326T(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCAGTGGCTCGCCATGAGCAA	0.572																																					p.A326T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G976A	18						.						117.0	106.0	110.0					18																	44036534		2203	4300	6503	42290532	SO:0001583	missense	494470	exon8			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.976G>A	18.37:g.44036534G>A	ENSP00000269439:p.Ala326Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42290532	NM_152470	B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195357	0.38806	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.67523	1.03;-0.27	5.1	5.1	0.69264	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	N	0.08118	0	0.80722	D	1	B	0.34349	0.45	B	0.31686	0.134	T	0.46062	-0.9218	10	0.13470	T	0.59	-2.7765	18.116	0.89555	0.0:0.0:1.0:0.0	.	326	Q6ZSG1	RN165_HUMAN	T	326;134	ENSP00000269439:A326T;ENSP00000444285:A134T	ENSP00000269439:A326T	A	+	1	0	RNF165	42290532	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	8.062000	0.89475	2.383000	0.81215	0.313000	0.20887	GCC		0.572	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	
TCEB3B	51224	broad.mit.edu	37	18	44559702	44559702	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:44559702T>G	ENST00000332567.4	-	1	2286	c.1934A>C	c.(1933-1935)aAa>aCa	p.K645T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	645	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K645T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCACAGATTTGAAACAGAT	0.542																																					p.K645T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1934C	18						.						131.0	132.0	132.0					18																	44559702		2203	4300	6503	42813700	SO:0001583	missense	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1934A>C	18.37:g.44559702T>G	ENSP00000331302:p.Lys645Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42813700	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	T	5.674	0.308902	0.10733	.	.	ENSG00000206181	ENST00000332567	T	0.06528	3.29	1.22	0.0178	0.14113	.	0.554792	0.16097	N	0.229749	T	0.02230	0.0069	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43245	-0.9403	10	0.30078	T	0.28	-9.5471	3.0972	0.06313	0.0:0.2684:0.0:0.7316	.	645	Q8IYF1	ELOA2_HUMAN	T	645	ENSP00000331302:K645T	ENSP00000331302:K645T	K	-	2	0	TCEB3B	42813700	0.495000	0.26051	0.001000	0.08648	0.000000	0.00434	1.432000	0.34936	-0.006000	0.14370	-0.315000	0.08773	AAA		0.542	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
TCEB3B	51224	broad.mit.edu	37	18	44561208	44561208	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:44561208T>C	ENST00000332567.4	-	1	780	c.428A>G	c.(427-429)cAc>cGc	p.H143R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	143					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H143R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGACCTCGGGTGAGGTCTCTG	0.642																																					p.H143R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A428G	18						.						53.0	61.0	58.0					18																	44561208		2203	4300	6503	42815206	SO:0001583	missense	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.428A>G	18.37:g.44561208T>C	ENSP00000331302:p.His143Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42815206	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	T	8.978	0.974550	0.18736	.	.	ENSG00000206181	ENST00000332567	T	0.07444	3.19	2.73	-3.78	0.04333	.	1.303910	0.05602	N	0.576622	T	0.05135	0.0137	L	0.52573	1.65	0.09310	N	1	P	0.40731	0.728	B	0.27887	0.084	T	0.41805	-0.9488	10	0.13853	T	0.58	-0.3647	4.3135	0.10982	0.0:0.4304:0.2021:0.3675	.	143	Q8IYF1	ELOA2_HUMAN	R	143	ENSP00000331302:H143R	ENSP00000331302:H143R	H	-	2	0	TCEB3B	42815206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.633000	0.05483	-0.724000	0.04908	-0.375000	0.07067	CAC		0.642	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
KATNAL2	83473	broad.mit.edu	37	18	44584699	44584699	+	Silent	SNP	G	G	A	rs144699151		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:44584699G>A	ENST00000245121.5	+	4	404	c.210G>A	c.(208-210)tcG>tcA	p.S70S	KATNAL2_ENST00000356157.7_Silent_p.S142S|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.S70S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ACACCAAATCGCTCAATAAGG	0.473																																					p.S70S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G210A	18						.	T		0,4406		0,0,2203	92.0	89.0	90.0		210	-2.8	0.0	18	dbSNP_134	90	1,8599		0,1,4299	no	coding-synonymous	KATNAL2	NM_031303.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		70/467	44584699	1,13005	2203	4300	6503	42838697	SO:0001819	synonymous_variant	83473	exon4			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.210G>A	18.37:g.44584699G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42838697	NM_031303		Silent	SNP	ENST00000245121.5	37	CCDS32828.1																																																																																				0.473	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
KATNAL2	83473	broad.mit.edu	37	18	44627365	44627365	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:44627365G>A	ENST00000245121.5	+	15	1584	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	KATNAL2_ENST00000356157.7_Missense_Mutation_p.E536K	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.E464K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAGAGAGTTCGAGTCTGTCTG	0.468											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E464K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	18						.						57.0	51.0	53.0					18																	44627365		2203	4300	6503	42881363	SO:0001583	missense	83473	exon15			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1390G>A	18.37:g.44627365G>A	ENSP00000245121:p.Glu464Lys	Somatic	925	Capture	Illumina HiSeq	Phase_I	42881363	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427609	0.83667	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93953	-3.31;-3.32	5.51	5.51	0.81932	.	0.057296	0.64402	D	0.000002	D	0.94318	0.8174	L	0.42487	1.325	0.53005	D	0.999964	D	0.57899	0.981	P	0.55965	0.788	D	0.94142	0.7398	10	0.54805	T	0.06	-2.1892	19.7859	0.96437	0.0:0.0:1.0:0.0	.	536	Q8IYT4	KATL2_HUMAN	K	536;464	ENSP00000348478:E536K;ENSP00000245121:E464K	ENSP00000245121:E464K	E	+	1	0	KATNAL2	42881363	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	5.507000	0.66999	2.746000	0.94184	0.655000	0.94253	GAG		0.468	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
DYM	54808	broad.mit.edu	37	18	46906063	46906063	+	Nonsense_Mutation	SNP	C	C	A	rs120074164		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:46906063C>A	ENST00000269445.6	-	4	716	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	DYM_ENST00000578396.1_5'Flank|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	87			E -> K (in SMC1; does not affect protein localization). {ECO:0000269|PubMed:12491225}.		bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)	p.E87*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGTTTTAGTTCTTTGGTTCTA	0.308																																					p.E87X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G259T	18	GRCh37	CM030532	DYM	M	rs120074164	.						114.0	117.0	116.0					18																	46906063		2203	4300	6503	45160061	SO:0001587	stop_gained	54808	exon4			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.259G>T	18.37:g.46906063C>A	ENSP00000269445:p.Glu87*	Somatic		Capture	Illumina HiSeq	Phase_I	45160061	NM_017653	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Nonsense_Mutation	SNP	ENST00000269445.6	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125005	0.94429	.	.	ENSG00000141627	ENST00000269445	.	.	.	5.28	4.41	0.53225	.	0.047921	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.3563	14.1479	0.65362	0.0:0.9272:0.0:0.0727	.	.	.	.	X	87	.	ENSP00000269445:E87X	E	-	1	0	DYM	45160061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.628000	0.83189	1.366000	0.46076	0.650000	0.86243	GAA		0.308	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653	
CFAP53	220136	broad.mit.edu	37	18	47753915	47753915	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47753915A>T	ENST00000398545.4	-	8	1498	c.1381T>A	c.(1381-1383)Tcc>Acc	p.S461T		NM_145020.3	NP_659457.2												p.S461T(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTTCTTGGGACTGCTGCTGG	0.463																																					p.S461T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1381A	18						.						239.0	237.0	238.0					18																	47753915		2011	4171	6182	46007913	SO:0001583	missense	220136	exon8																														ENST00000398545.4:c.1381T>A	18.37:g.47753915A>T	ENSP00000381553:p.Ser461Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46007913	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	9.271	1.045748	0.19748	.	.	ENSG00000172361	ENST00000398545	T	0.09445	2.98	5.39	1.5	0.22942	.	0.630757	0.16330	N	0.219155	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999992	B	0.19706	0.038	B	0.19946	0.027	T	0.44360	-0.9333	10	0.16896	T	0.51	0.844	4.5992	0.12345	0.1636:0.5699:0.0:0.2666	.	461	Q96M91	CCD11_HUMAN	T	461	ENSP00000381553:S461T	ENSP00000381553:S461T	S	-	1	0	CCDC11	46007913	0.974000	0.33945	0.996000	0.52242	0.907000	0.53573	0.253000	0.18296	0.331000	0.23511	-0.213000	0.12676	TCC		0.463	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3		
CFAP53	220136	broad.mit.edu	37	18	47777933	47777933	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47777933A>T	ENST00000398545.4	-	4	812	c.695T>A	c.(694-696)cTg>cAg	p.L232Q		NM_145020.3	NP_659457.2												p.L232Q(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATTCAGCCCCAGGCGTGTGTT	0.547																																					p.L232Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T695A	18						.						126.0	127.0	127.0					18																	47777933		2061	4195	6256	46031931	SO:0001583	missense	220136	exon4																														ENST00000398545.4:c.695T>A	18.37:g.47777933A>T	ENSP00000381553:p.Leu232Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46031931	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822120	0.50739	.	.	ENSG00000172361	ENST00000398545	T	0.08193	3.12	5.32	5.32	0.75619	.	0.214190	0.32372	N	0.006185	T	0.20007	0.0481	L	0.59436	1.845	0.09310	N	0.999995	D	0.56287	0.975	D	0.67231	0.95	T	0.12218	-1.0556	10	0.13470	T	0.59	-9.5938	11.6882	0.51499	1.0:0.0:0.0:0.0	.	232	Q96M91	CCD11_HUMAN	Q	232	ENSP00000381553:L232Q	ENSP00000381553:L232Q	L	-	2	0	CCDC11	46031931	0.983000	0.35010	0.999000	0.59377	0.888000	0.51559	3.395000	0.52558	2.018000	0.59344	0.533000	0.62120	CTG		0.547	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3		
CFAP53	220136	broad.mit.edu	37	18	47778090	47778090	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47778090G>A	ENST00000398545.4	-	4	655	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_145020.3	NP_659457.2												p.R180W(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGTGCTTTCCGCTCCTCACAC	0.463																																					p.R180W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	18						.						258.0	257.0	257.0					18																	47778090		2012	4171	6183	46032088	SO:0001583	missense	220136	exon4																														ENST00000398545.4:c.538C>T	18.37:g.47778090G>A	ENSP00000381553:p.Arg180Trp	Somatic		Capture	Illumina HiSeq	Phase_I	46032088	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619380	0.66787	.	.	ENSG00000172361	ENST00000398545	T	0.19532	2.14	5.32	1.09	0.20402	.	0.137215	0.44902	D	0.000414	T	0.40815	0.1132	M	0.66939	2.045	0.31074	N	0.712643	D	0.89917	1.0	D	0.87578	0.998	T	0.45644	-0.9247	10	0.40728	T	0.16	-13.1374	13.161	0.59544	0.0:0.0:0.3288:0.6712	.	180	Q96M91	CCD11_HUMAN	W	180	ENSP00000381553:R180W	ENSP00000381553:R180W	R	-	1	2	CCDC11	46032088	0.996000	0.38824	0.969000	0.41365	0.973000	0.67179	2.095000	0.41729	0.194000	0.20326	0.655000	0.94253	CGG		0.463	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3		
MBD1	4152	broad.mit.edu	37	18	47800013	47800013	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47800013A>C	ENST00000591416.1	-	12	1798	c.1367T>G	c.(1366-1368)cTt>cGt	p.L456R	MBD1_ENST00000353909.3_Missense_Mutation_p.L407R|MBD1_ENST00000587605.1_Missense_Mutation_p.L400R|MBD1_ENST00000382948.5_Missense_Mutation_p.L456R|MBD1_ENST00000436910.1_Missense_Mutation_p.L433R|MBD1_ENST00000349085.2_Missense_Mutation_p.L400R|MBD1_ENST00000269468.5_Missense_Mutation_p.L456R|MBD1_ENST00000398495.2_Missense_Mutation_p.L425R|MBD1_ENST00000424334.2_Missense_Mutation_p.L507R|MBD1_ENST00000590208.1_Missense_Mutation_p.L456R|MBD1_ENST00000339998.6_Missense_Mutation_p.L456R|MBD1_ENST00000591535.1_Missense_Mutation_p.L433R|MBD1_ENST00000457839.2_Missense_Mutation_p.L481R|MBD1_ENST00000269471.5_Missense_Mutation_p.L433R|MBD1_ENST00000398493.1_Missense_Mutation_p.L400R|MBD1_ENST00000588937.1_Missense_Mutation_p.L433R|MBD1_ENST00000398488.1_Missense_Mutation_p.L400R|MBD1_ENST00000585595.1_Missense_Mutation_p.L481R|MBD1_ENST00000347968.3_Missense_Mutation_p.L400R|MBD1_ENST00000585672.1_Missense_Mutation_p.L406R			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	456					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L456R(3)|p.L481R(1)|p.L433R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAAAACACAAGGTCAGTGCC	0.627																																					p.L433R												.	.	5	Substitution - Missense(5)	lung(4)|large_intestine(1)	c.T1298G	18						.						60.0	55.0	57.0					18																	47800013		2203	4300	6503	46054011	SO:0001583	missense	4152	exon11			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1367T>G	18.37:g.47800013A>C	ENSP00000467017:p.Leu456Arg	Somatic		Capture	Illumina HiSeq	Phase_I	46054011	NM_015845	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234265	0.58886	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.97378	-4.1;-4.11;-4.36;-4.1;-4.07;-4.03;-4.04;-4.1;-4.05;-4.08;-4.07;-4.36	4.44	4.44	0.53790	.	0.373697	0.23237	N	0.050394	D	0.96482	0.8852	L	0.27053	0.805	0.27797	N	0.942617	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.997;0.999;1.0;0.998;0.999;0.997;0.998;0.992;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.949;0.996;0.965;0.945;0.977;0.977;0.961;0.996;0.945;0.961;0.914;0.961	D	0.91530	0.5241	10	0.66056	D	0.02	-10.2249	10.3809	0.44110	1.0:0.0:0.0:0.0	.	400;507;433;456;456;433;407;400;456;400;481;400	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	R	456;407;400;456;400;433;433;507;456;456;481;400;400	ENSP00000372407:L456R;ENSP00000269469:L407R;ENSP00000342531:L400R;ENSP00000269468:L456R;ENSP00000285102:L400R;ENSP00000409561:L433R;ENSP00000269471:L433R;ENSP00000408846:L507R;ENSP00000339546:L456R;ENSP00000405268:L481R;ENSP00000381506:L400R;ENSP00000381502:L400R	ENSP00000269468:L456R	L	-	2	0	MBD1	46054011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.223000	0.72356	0.454000	0.30748	CTT		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	
MBD1	4152	broad.mit.edu	37	18	47800164	47800164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47800164G>A	ENST00000591416.1	-	12	1647	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	MBD1_ENST00000353909.3_Nonsense_Mutation_p.R357*|MBD1_ENST00000587605.1_Nonsense_Mutation_p.R350*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.R406*|MBD1_ENST00000436910.1_Nonsense_Mutation_p.R383*|MBD1_ENST00000349085.2_Nonsense_Mutation_p.R350*|MBD1_ENST00000269468.5_Nonsense_Mutation_p.R406*|MBD1_ENST00000398495.2_Nonsense_Mutation_p.R375*|MBD1_ENST00000424334.2_Nonsense_Mutation_p.R457*|MBD1_ENST00000590208.1_Nonsense_Mutation_p.R406*|MBD1_ENST00000339998.6_Nonsense_Mutation_p.R406*|MBD1_ENST00000591535.1_Nonsense_Mutation_p.R383*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.R431*|MBD1_ENST00000269471.5_Nonsense_Mutation_p.R383*|MBD1_ENST00000398493.1_Nonsense_Mutation_p.R350*|MBD1_ENST00000588937.1_Nonsense_Mutation_p.R383*|MBD1_ENST00000398488.1_Nonsense_Mutation_p.R350*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.R431*|MBD1_ENST00000347968.3_Nonsense_Mutation_p.R350*|MBD1_ENST00000585672.1_Nonsense_Mutation_p.R356*			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	406					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R406*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGCCTCTTTCGACGACGGTAA	0.612																																					p.R383X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)	c.C1147T	18						.						104.0	97.0	100.0					18																	47800164		2203	4300	6503	46054162	SO:0001587	stop_gained	4152	exon11			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1216C>T	18.37:g.47800164G>A	ENSP00000467017:p.Arg406*	Somatic		Capture	Illumina HiSeq	Phase_I	46054162	NM_015845	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Nonsense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	37	6.004833	0.97195	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	.	.	.	4.26	4.26	0.50523	.	0.306720	0.23861	N	0.043848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5357	12.4654	0.55755	0.0:0.0:1.0:0.0	.	.	.	.	X	406;357;350;406;350;383;383;457;406;406;431;350;350	.	ENSP00000269468:R406X	R	-	1	2	MBD1	46054162	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	3.969000	0.56816	2.659000	0.90383	0.555000	0.69702	CGA		0.612	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	
CXXC1	30827	broad.mit.edu	37	18	47809282	47809282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47809282C>T	ENST00000285106.6	-	14	2480	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.A577T|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R593H|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	589					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R589H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCAGTAATGGCGATTGCACTG	0.597																																					p.R593H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1778A	18						.						119.0	102.0	108.0					18																	47809282		2203	4300	6503	46063280	SO:0001583	missense	30827	exon14			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1766G>A	18.37:g.47809282C>T	ENSP00000285106:p.Arg589His	Somatic		Capture	Illumina HiSeq	Phase_I	46063280	NM_001101654	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091501	0.55968	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24538	1.85;1.85	4.36	4.36	0.52297	CpG binding protein, C-terminal (1);	0.073307	0.52532	D	0.000069	T	0.12305	0.0299	N	0.12182	0.205	0.24692	N	0.993306	P;P;B	0.44380	0.801;0.834;0.279	B;B;B	0.28709	0.093;0.086;0.022	T	0.16041	-1.0416	10	0.56958	D	0.05	-14.2969	14.7719	0.69684	0.0:1.0:0.0:0.0	.	593;589;456	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	589;593	ENSP00000285106:R589H;ENSP00000390475:R593H	ENSP00000285106:R589H	R	-	2	0	CXXC1	46063280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.400000	0.66320	2.121000	0.65114	0.579000	0.79373	CGC		0.597	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	
ELAC1	55520	broad.mit.edu	37	18	48510826	48510826	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:48510826T>G	ENST00000269466.3	+	3	625	c.518T>G	c.(517-519)tTt>tGt	p.F173C	ELAC1_ENST00000591429.1_Missense_Mutation_p.F173C|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	173					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)	p.F173C(1)		kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GATGAACAATTTGTTGTAAAA	0.398																																					p.F173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T518G	18						.						66.0	65.0	65.0					18																	48510826		2203	4300	6503	46764824	SO:0001583	missense	55520	exon3			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.518T>G	18.37:g.48510826T>G	ENSP00000269466:p.Phe173Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46764824	NM_018696	Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295390	0.81025	.	.	ENSG00000141642	ENST00000269466	T	0.77229	-1.08	5.95	5.95	0.96441	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.70903	2.155	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	D	0.88267	0.2927	10	0.87932	D	0	.	15.4149	0.74960	0.0:0.0:0.0:1.0	.	173;173	Q53EY2;Q9H777	.;RNZ1_HUMAN	C	173	ENSP00000269466:F173C	ENSP00000269466:F173C	F	+	2	0	ELAC1	46764824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.906000	0.75719	2.281000	0.76405	0.528000	0.53228	TTT		0.398	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2		
DCC	1630	broad.mit.edu	37	18	50432440	50432440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:50432440G>T	ENST00000442544.2	+	3	1055	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	147	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.E147*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCACAGACAGAATCTGTCAC	0.428																																					p.E147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G439T	18						.						86.0	82.0	83.0					18																	50432440		2203	4300	6503	48686438	SO:0001587	stop_gained	1630	exon3			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.439G>T	18.37:g.50432440G>T	ENSP00000389140:p.Glu147*	Somatic		Capture	Illumina HiSeq	Phase_I	48686438	NM_005215		Nonsense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104668	0.77096	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	.	.	.	5.71	5.71	0.89125	.	0.203516	0.40222	N	0.001142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.622	0.91324	0.0:0.0:1.0:0.0	.	.	.	.	X	147;80	.	ENSP00000304146:E80X	E	+	1	0	DCC	48686438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.054000	0.76649	2.688000	0.91661	0.655000	0.94253	GAA		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DCC	1630	broad.mit.edu	37	18	50734116	50734116	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:50734116G>A	ENST00000442544.2	+	11	2406	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	DCC_ENST00000412726.1_Missense_Mutation_p.R445Q|DCC_ENST00000581580.1_Missense_Mutation_p.R252Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	597	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R597Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATAGTCTTCGATTCTTAGCT	0.368																																					p.R597Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790A	18						.						146.0	151.0	150.0					18																	50734116		2203	4300	6503	48988114	SO:0001583	missense	1630	exon11			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1790G>A	18.37:g.50734116G>A	ENSP00000389140:p.Arg597Gln	Somatic		Capture	Illumina HiSeq	Phase_I	48988114	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315015	0.60524	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.59772	0.24;0.24	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.73442	0.3587	L	0.53729	1.69	0.48975	D	0.999731	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.79108	0.992;0.955;0.942	T	0.73430	-0.3985	10	0.62326	D	0.03	.	18.8898	0.92395	0.0:0.0:1.0:0.0	.	445;445;597	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	Q	597;530;445	ENSP00000389140:R597Q;ENSP00000397322:R445Q	ENSP00000304146:R530Q	R	+	2	0	DCC	48988114	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.068000	0.89490	2.775000	0.95449	0.650000	0.86243	CGA		0.368	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DCC	1630	broad.mit.edu	37	18	50923743	50923743	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:50923743C>A	ENST00000442544.2	+	18	3370	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	DCC_ENST00000412726.1_Missense_Mutation_p.F746L|DCC_ENST00000581580.1_Missense_Mutation_p.F553L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	918	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.F918L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTATGAATTCTCGGTCATGG	0.403																																					p.F918L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2754A	18						.						119.0	104.0	109.0					18																	50923743		2203	4300	6503	49177741	SO:0001583	missense	1630	exon18			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2754C>A	18.37:g.50923743C>A	ENSP00000389140:p.Phe918Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49177741	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449441	0.43531	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.59906	0.23;0.23	5.8	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.87097	2.86	0.50632	D	0.999885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.993	T	0.77953	-0.2394	10	0.45353	T	0.12	.	9.9653	0.41721	0.0:0.8434:0.0:0.1566	.	746;746;918	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	918;746	ENSP00000389140:F918L;ENSP00000397322:F746L	ENSP00000397322:F746L	F	+	3	2	DCC	49177741	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.476000	0.35420	1.455000	0.47813	0.650000	0.86243	TTC		0.403	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
POLI	11201	broad.mit.edu	37	18	51820202	51820202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:51820202G>T	ENST00000579534.1	+	10	1731	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	POLI_ENST00000217800.5_Nonsense_Mutation_p.E404*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E427*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E451*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	530					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.E505*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGTTGACCAAGAAGTCTTCAA	0.373								DNA polymerases (catalytic subunits)																													p.E530X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1588T	18						.						29.0	29.0	29.0					18																	51820202		2203	4299	6502	50074200	SO:0001587	stop_gained	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1588G>T	18.37:g.51820202G>T	ENSP00000462664:p.Glu530*	Somatic		Capture	Illumina HiSeq	Phase_I	50074200	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	40	8.509861	0.98843	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.51	5.51	0.81932	.	0.397122	0.28317	N	0.015783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-21.7666	16.6979	0.85341	0.0:0.0:1.0:0.0	.	.	.	.	X	451;530	.	ENSP00000217800:E530X	E	+	1	0	POLI	50074200	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.050000	0.57404	2.738000	0.93877	0.655000	0.94253	GAA		0.373	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
POLI	11201	broad.mit.edu	37	18	51820305	51820305	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:51820305C>T	ENST00000579534.1	+	10	1834	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	POLI_ENST00000217800.5_Missense_Mutation_p.A438V|POLI_ENST00000579434.1_Missense_Mutation_p.A461V|POLI_ENST00000406285.3_Missense_Mutation_p.A485V	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	564					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.A539V(1)|p.A564V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CCATTACATGCCTCTAGAGGA	0.358								DNA polymerases (catalytic subunits)																													p.A564V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1691T	18						.						44.0	43.0	43.0					18																	51820305		2203	4300	6503	50074303	SO:0001583	missense	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1691C>T	18.37:g.51820305C>T	ENSP00000462664:p.Ala564Val	Somatic		Capture	Illumina HiSeq	Phase_I	50074303	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744566	0.30865	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.56611	0.45	5.51	4.62	0.57501	.	0.565425	0.19141	N	0.121689	T	0.68824	0.3043	M	0.66939	2.045	0.31133	N	0.707545	D;D	0.69078	0.997;0.996	D;P	0.75020	0.985;0.877	T	0.71314	-0.4630	10	0.46703	T	0.11	-1.6443	13.1489	0.59478	0.1603:0.8397:0.0:0.0	.	484;564	B7Z780;Q9UNA4	.;POLI_HUMAN	V	485;564	ENSP00000385196:A485V	ENSP00000217800:A564V	A	+	2	0	POLI	50074303	0.006000	0.16342	0.125000	0.21846	0.977000	0.68977	0.867000	0.27968	1.408000	0.46895	0.655000	0.94253	GCC		0.358	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
POLI	11201	broad.mit.edu	37	18	51820532	51820532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:51820532G>T	ENST00000579534.1	+	10	2061	c.1918G>T	c.(1918-1920)Gaa>Taa	p.E640*	POLI_ENST00000217800.5_Nonsense_Mutation_p.E514*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E537*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E561*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	640					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.E640*(1)|p.E615*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGGACCTAAAGAACCTCAAGG	0.348								DNA polymerases (catalytic subunits)																													p.E640X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1918T	18						.						38.0	40.0	39.0					18																	51820532		2203	4300	6503	50074530	SO:0001587	stop_gained	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1918G>T	18.37:g.51820532G>T	ENSP00000462664:p.Glu640*	Somatic		Capture	Illumina HiSeq	Phase_I	50074530	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	41	9.120931	0.99073	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.51	4.64	0.57946	.	0.603318	0.18579	N	0.137085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-6.1958	11.802	0.52133	0.0831:0.0:0.9169:0.0	.	.	.	.	X	561;640	.	ENSP00000217800:E640X	E	+	1	0	POLI	50074530	0.917000	0.31117	0.997000	0.53966	0.939000	0.58152	1.381000	0.34362	1.446000	0.47643	0.655000	0.94253	GAA		0.348	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
RAB27B	5874	broad.mit.edu	37	18	52544934	52544934	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:52544934A>C	ENST00000262094.5	+	2	639	c.118A>C	c.(118-120)Act>Cct	p.T40P	RP11-99A1.2_ENST00000590604.1_lincRNA|RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	40					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)	p.T40P(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CAAATTCATCACTACAGTAGG	0.383																																					p.T40P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118C	18						.						86.0	86.0	86.0					18																	52544934		2203	4300	6503	50695932	SO:0001583	missense	5874	exon2			U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.118A>C	18.37:g.52544934A>C	ENSP00000262094:p.Thr40Pro	Somatic		Capture	Illumina HiSeq	Phase_I	50695932	NM_004163	B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	37	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680538	0.88542	.	.	ENSG00000041353	ENST00000262094	T	0.71341	-0.56	5.59	5.59	0.84812	Small GTP-binding protein domain (1);	0.095042	0.64402	D	0.000001	T	0.71710	0.3372	N	0.11756	0.17	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.77795	-0.2454	10	0.87932	D	0	.	14.741	0.69455	1.0:0.0:0.0:0.0	.	40	O00194	RB27B_HUMAN	P	40	ENSP00000262094:T40P	ENSP00000262094:T40P	T	+	1	0	RAB27B	50695932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.315000	0.96313	2.111000	0.64477	0.533000	0.62120	ACT		0.383	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	
RAB27B	5874	broad.mit.edu	37	18	52551661	52551661	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:52551661T>G	ENST00000262094.5	+	4	858	c.337T>G	c.(337-339)Tgg>Ggg	p.W113G	RP11-839G9.1_ENST00000588466.1_RNA|RAB27B_ENST00000586594.1_Intron	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	113					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)	p.W113G(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGTCAGAAACTGGATGAGTAA	0.468																																					p.W113G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T337G	18						.						139.0	129.0	132.0					18																	52551661		2203	4300	6503	50702659	SO:0001583	missense	5874	exon4			U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.337T>G	18.37:g.52551661T>G	ENSP00000262094:p.Trp113Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50702659	NM_004163	B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	37	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409822	0.83340	.	.	ENSG00000041353	ENST00000262094	D	0.81499	-1.5	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96056	0.9035	10	0.87932	D	0	-2.5584	15.4298	0.75084	0.0:0.0:0.0:1.0	.	113	O00194	RB27B_HUMAN	G	113	ENSP00000262094:W113G	ENSP00000262094:W113G	W	+	1	0	RAB27B	50702659	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.281000	0.76405	0.533000	0.62120	TGG		0.468	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	
WDR7	23335	broad.mit.edu	37	18	54339845	54339845	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:54339845G>A	ENST00000254442.3	+	2	310	c.99G>A	c.(97-99)acG>acA	p.T33T	WDR7_ENST00000357574.3_Silent_p.T33T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	33					hematopoietic progenitor cell differentiation (GO:0002244)			p.T33T(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATGGGGCCACGATCGTAACAG	0.433																																					p.T33T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G99A	18						.						93.0	82.0	86.0					18																	54339845		2203	4300	6503	52490843	SO:0001819	synonymous_variant	23335	exon2			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.99G>A	18.37:g.54339845G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52490843	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																				0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
WDR7	23335	broad.mit.edu	37	18	54350048	54350048	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:54350048A>C	ENST00000254442.3	+	5	695	c.484A>C	c.(484-486)Agc>Cgc	p.S162R	WDR7_ENST00000357574.3_Missense_Mutation_p.S162R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	162					hematopoietic progenitor cell differentiation (GO:0002244)			p.S162R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACTGGATTAGCTCCATGAG	0.403																																					p.S162R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A484C	18						.						131.0	121.0	124.0					18																	54350048		2203	4300	6503	52501046	SO:0001583	missense	23335	exon5			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.484A>C	18.37:g.54350048A>C	ENSP00000254442:p.Ser162Arg	Somatic		Capture	Illumina HiSeq	Phase_I	52501046	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498821	0.85069	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.55052	0.54;0.54	4.55	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.72338	0.977;0.852	T	0.71189	-0.4666	10	0.45353	T	0.12	.	13.8445	0.63459	1.0:0.0:0.0:0.0	.	162;162	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	162	ENSP00000254442:S162R;ENSP00000350187:S162R	ENSP00000254442:S162R	S	+	1	0	WDR7	52501046	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.146000	0.94640	1.820000	0.53075	0.421000	0.28195	AGC		0.403	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
WDR7	23335	broad.mit.edu	37	18	54385252	54385252	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:54385252A>C	ENST00000254442.3	+	13	1847	c.1636A>C	c.(1636-1638)Agt>Cgt	p.S546R	WDR7_ENST00000357574.3_Missense_Mutation_p.S546R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	546					hematopoietic progenitor cell differentiation (GO:0002244)			p.S546R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGACTTCTAAGTTTGCGAGA	0.398																																					p.S546R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1636C	18						.						150.0	138.0	142.0					18																	54385252		2203	4300	6503	52536250	SO:0001583	missense	23335	exon13			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1636A>C	18.37:g.54385252A>C	ENSP00000254442:p.Ser546Arg	Somatic		Capture	Illumina HiSeq	Phase_I	52536250	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.850551	0.91277	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.70045	-0.45;-0.45	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.979;0.998	P;D	0.75484	0.891;0.986	T	0.82135	-0.0607	10	0.66056	D	0.02	.	15.413	0.74943	1.0:0.0:0.0:0.0	.	546;546	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	546	ENSP00000254442:S546R;ENSP00000350187:S546R	ENSP00000254442:S546R	S	+	1	0	WDR7	52536250	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.215000	0.95146	2.127000	0.65507	0.533000	0.62120	AGT		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
EPB41L3	23136	broad.mit.edu	37	18	5410588	5410588	+	Missense_Mutation	SNP	C	C	T	rs61731698		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:5410588C>T	ENST00000341928.2	-	14	2438	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D531N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D531N|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D531N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D700N|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	700	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.D700N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTCTCCCCGTCGGCTGCGGTG	0.532																																					p.D700N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2098A	18						.	C	ASN/ASP	0,4406		0,0,2203	99.0	65.0	76.0		2098	5.3	0.8	18	dbSNP_129	76	3,8597	2.2+/-6.3	0,3,4297	no	missense	EPB41L3	NM_012307.2	23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	700/1088	5410588	3,13003	2203	4300	6503	5400588	SO:0001583	missense	23136	exon14			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2098G>A	18.37:g.5410588C>T	ENSP00000343158:p.Asp700Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5400588	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039207	0.93630	0.0	3.49E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.84516	-1.63;-1.72;-1.63;-1.86	5.34	5.34	0.76211	.	0.052977	0.85682	D	0.000000	D	0.87771	0.6261	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.99;0.99;0.996;0.993	D	0.89858	0.4014	10	0.87932	D	0	.	19.0337	0.92969	0.0:1.0:0.0:0.0	.	531;92;422;531;700	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	N	700;422;531;422;700;531	ENSP00000343158:D700N;ENSP00000441174:D531N;ENSP00000341138:D700N;ENSP00000382981:D531N	ENSP00000343158:D700N	D	-	1	0	EPB41L3	5400588	1.000000	0.71417	0.779000	0.31741	0.889000	0.51656	7.231000	0.78106	2.500000	0.84329	0.591000	0.81541	GAC		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
EPB41L3	23136	broad.mit.edu	37	18	5416169	5416169	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:5416169G>T	ENST00000341928.2	-	13	2055	c.1715C>A	c.(1714-1716)gCt>gAt	p.A572D	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A572D|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	572	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A572D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTAGCTAAAAGCCACATCTTG	0.572																																					p.A572D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1715A	18						.						102.0	96.0	98.0					18																	5416169		2203	4300	6503	5406169	SO:0001583	missense	23136	exon13			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1715C>A	18.37:g.5416169G>T	ENSP00000343158:p.Ala572Asp	Somatic		Capture	Illumina HiSeq	Phase_I	5406169	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015933	0.54468	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.81659	-1.52;-1.52	5.76	4.89	0.63831	.	0.403545	0.26029	N	0.026762	T	0.81683	0.4874	M	0.63428	1.95	0.80722	D	1	D	0.57257	0.979	P	0.50490	0.642	T	0.78735	-0.2088	10	0.15952	T	0.53	.	14.5904	0.68359	0.0698:0.0:0.9302:0.0	.	572	Q9Y2J2	E41L3_HUMAN	D	572	ENSP00000343158:A572D;ENSP00000341138:A572D	ENSP00000343158:A572D	A	-	2	0	EPB41L3	5406169	0.998000	0.40836	0.927000	0.36925	0.990000	0.78478	3.593000	0.54001	1.428000	0.47296	0.563000	0.77884	GCT		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
EPB41L3	23136	broad.mit.edu	37	18	5416244	5416244	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:5416244G>T	ENST00000341928.2	-	13	1980	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A547D|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	547	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A547D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGGTGCTCAGCTCTGGACGG	0.577																																					p.A547D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1640A	18						.						82.0	84.0	84.0					18																	5416244		2203	4300	6503	5406244	SO:0001583	missense	23136	exon13			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1640C>A	18.37:g.5416244G>T	ENSP00000343158:p.Ala547Asp	Somatic		Capture	Illumina HiSeq	Phase_I	5406244	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	3.881	-0.025965	0.07589	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.81821	-1.54;-1.54	5.46	4.59	0.56863	.	0.695883	0.13268	N	0.400778	T	0.48677	0.1513	N	0.00677	-1.265	0.22317	N	0.999202	B	0.02656	0.0	B	0.01281	0.0	T	0.41233	-0.9520	10	0.14252	T	0.57	.	7.2759	0.26283	0.1549:0.1514:0.6936:0.0	.	547	Q9Y2J2	E41L3_HUMAN	D	547	ENSP00000343158:A547D;ENSP00000341138:A547D	ENSP00000343158:A547D	A	-	2	0	EPB41L3	5406244	0.005000	0.15991	0.002000	0.10522	0.137000	0.21094	1.281000	0.33214	1.278000	0.44430	0.563000	0.77884	GCT		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
ATP8B1	5205	broad.mit.edu	37	18	55322646	55322646	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:55322646G>A	ENST00000283684.4	-	22	2710	c.2711C>T	c.(2710-2712)gCc>gTc	p.A904V	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A904V			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	904					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A904V(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCCAATGTGGGCAGCTATGGG	0.443																																					p.A904V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2711T	18						.						108.0	95.0	99.0					18																	55322646		2203	4300	6503	53473644	SO:0001583	missense	5205	exon23			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2711C>T	18.37:g.55322646G>A	ENSP00000283684:p.Ala904Val	Somatic		Capture	Illumina HiSeq	Phase_I	53473644	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762025	0.89932	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.87571	-2.27;-2.27	6.04	6.04	0.98038	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	H	0.99261	4.49	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97873	1.0287	10	0.87932	D	0	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	904	O43520	AT8B1_HUMAN	V	904	ENSP00000283684:A904V;ENSP00000445359:A904V	ENSP00000283684:A904V	A	-	2	0	ATP8B1	53473644	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	GCC		0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
NEDD4L	23327	broad.mit.edu	37	18	55997991	55997991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:55997991G>A	ENST00000400345.3	+	11	1118	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	NEDD4L_ENST00000382850.4_Missense_Mutation_p.E279K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E158K|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E158K|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E279K|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E158K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E271K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456986.1_Missense_Mutation_p.E158K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E279K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E158K|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E271K	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	279					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.E279K(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATTTCAGAGGAAGTGAATAT	0.547																																					p.E279K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835A	18						.						31.0	32.0	32.0					18																	55997991		1870	4106	5976	54148971	SO:0001583	missense	23327	exon11			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.835G>A	18.37:g.55997991G>A	ENSP00000383199:p.Glu279Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54148971	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143575	0.94603	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.34472	1.41;1.42;1.36;1.41;1.91;1.91;1.81;1.91;1.91;1.91	5.66	5.66	0.87406	.	0.044224	0.85682	D	0.000000	T	0.53738	0.1815	L	0.54323	1.7	0.80722	D	1	D;P;P;D;D;P;P	0.69078	0.974;0.936;0.936;0.997;0.99;0.895;0.936	D;P;P;D;D;P;P	0.73380	0.953;0.755;0.669;0.98;0.979;0.573;0.669	T	0.38329	-0.9666	10	0.09338	T	0.73	.	19.7389	0.96218	0.0:0.0:1.0:0.0	.	279;271;271;158;279;279;279	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	K	279;279;279;279;158;158;271;158;158;158	ENSP00000383199:E279K;ENSP00000372301:E279K;ENSP00000348847:E279K;ENSP00000256830:E279K;ENSP00000256832:E158K;ENSP00000411947:E158K;ENSP00000350569:E271K;ENSP00000393395:E158K;ENSP00000405440:E158K;ENSP00000389406:E158K	ENSP00000256830:E279K	E	+	1	0	NEDD4L	54148971	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	8.132000	0.89603	2.678000	0.91216	0.655000	0.94253	GAA		0.547	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ALPK2	115701	broad.mit.edu	37	18	56202377	56202377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56202377G>A	ENST00000361673.3	-	5	5255	c.5042C>T	c.(5041-5043)gCg>gTg	p.A1681V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1681						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A1681V(1)|p.A1042V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGACTTTTTCGCACAGCCCAG	0.542																																					p.A1681V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5042T	18						.						70.0	74.0	73.0					18																	56202377		2203	4300	6503	54353357	SO:0001583	missense	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5042C>T	18.37:g.56202377G>A	ENSP00000354991:p.Ala1681Val	Somatic		Capture	Illumina HiSeq	Phase_I	54353357	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480240	0.26598	.	.	ENSG00000198796	ENST00000361673	T	0.41758	0.99	5.65	0.02	0.14123	.	3.232590	0.00741	N	0.001001	T	0.13372	0.0324	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09465	-1.0673	10	0.21540	T	0.41	-0.7874	1.3169	0.02109	0.1873:0.3945:0.2388:0.1794	.	1676;1681	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	V	1681	ENSP00000354991:A1681V	ENSP00000354991:A1681V	A	-	2	0	ALPK2	54353357	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	0.066000	0.14489	-0.242000	0.09667	-0.254000	0.11334	GCG		0.542	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56247690	56247690	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56247690G>A	ENST00000361673.3	-	4	531	c.318C>T	c.(316-318)tgC>tgT	p.C106C	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	106	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C106C(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCTGATGAGCACTCAACCT	0.438																																					p.C106C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	18						.						200.0	181.0	187.0					18																	56247690		1947	4151	6098	54398670	SO:0001819	synonymous_variant	115701	exon4			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.318C>T	18.37:g.56247690G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54398670	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
MALT1	10892	broad.mit.edu	37	18	56348532	56348532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56348532G>T	ENST00000348428.3	+	2	598	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Nonsense_Mutation_p.E114*	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	114	Death.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.E114*(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCAGGCTATGGAACACACTGA	0.463			T	BIRC3	MALT																																p.E114X			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G340T	18						.						99.0	91.0	94.0					18																	56348532		2203	4300	6503	54499512	SO:0001587	stop_gained	10892	exon2				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.340G>T	18.37:g.56348532G>T	ENSP00000319279:p.Glu114*	Somatic		Capture	Illumina HiSeq	Phase_I	54499512	NM_173844	Q9NTB7|Q9ULX4	Nonsense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	37	6.407192	0.97542	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	.	.	.	6.03	6.03	0.97812	.	0.217675	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.3584	0.66752	0.071:0.0:0.929:0.0	.	.	.	.	X	114	.	ENSP00000304161:E114X	E	+	1	0	MALT1	54499512	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.506000	0.73712	2.868000	0.98415	0.557000	0.71058	GAA		0.463	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
MALT1	10892	broad.mit.edu	37	18	56376623	56376623	+	Silent	SNP	C	C	T	rs374931065		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56376623C>T	ENST00000348428.3	+	5	921	c.663C>T	c.(661-663)ggC>ggT	p.G221G	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.G221G	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	221	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.G221G(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTGTTGATGGCGTCTCTGAAT	0.363			T	BIRC3	MALT																																p.G221G			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663T	18						.	C	,	1,4405	2.1+/-5.4	0,1,2202	109.0	102.0	104.0		663,663	3.4	0.6	18		104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MALT1	NM_006785.2,NM_173844.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	221/825,221/814	56376623	1,13005	2203	4300	6503	54527603	SO:0001819	synonymous_variant	10892	exon5				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.663C>T	18.37:g.56376623C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54527603	NM_173844	Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.363	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
SEC11C	90701	broad.mit.edu	37	18	56822990	56822990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56822990G>T	ENST00000587834.1	+	4	890	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	SEC11C_ENST00000588875.1_Nonsense_Mutation_p.E140*	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	140					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)	p.E140*(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				CTTGTACAAAGAAGGCCAGAA	0.368																																					p.E140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G418T	18						.						83.0	91.0	88.0					18																	56822990		2203	4300	6503	54973970	SO:0001587	stop_gained	90701	exon4			AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.418G>T	18.37:g.56822990G>T	ENSP00000468633:p.Glu140*	Somatic		Capture	Illumina HiSeq	Phase_I	54973970	NM_033280	B2RAA3	Nonsense_Mutation	SNP	ENST00000587834.1	37	CCDS11970.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.007829	0.93287	.	.	ENSG00000166562	ENST00000299714;ENST00000509791	.	.	.	5.68	4.8	0.61643	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-24.3666	16.4451	0.83925	0.0:0.1315:0.8685:0.0	.	.	.	.	X	140	.	ENSP00000299714:E140X	E	+	1	0	SEC11C	54973970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.117000	0.64667	1.392000	0.46585	0.645000	0.84053	GAA		0.368	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280	
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56964052C>A	ENST00000299721.3	-	3	547	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418																																					p.D121Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361T	18						.						122.0	111.0	115.0					18																	56964052		2203	4300	6503	55115032	SO:0001583	missense	339302	exon3			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>T	18.37:g.56964052C>A	ENSP00000299721:p.Asp121Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55115032	NM_181654	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726137	0.89298	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.76828	0.4042	M	0.65498	2.005	0.80722	D	1	B	0.30104	0.268	P	0.44732	0.459	T	0.76479	-0.2944	9	0.72032	D	0.01	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	Y	121	.	ENSP00000299721:D121Y	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT		0.418	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654	
MC4R	4160	broad.mit.edu	37	18	58038764	58038764	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:58038764C>A	ENST00000299766.3	-	1	1237	c.819G>T	c.(817-819)caG>caT	p.Q273H		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	273					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.Q273H(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AATATGGATTCTGAGGACAAG	0.423																																					p.Q273H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G819T	18						.						117.0	103.0	108.0					18																	58038764		2203	4300	6503	56189744	SO:0001583	missense	4160	exon1			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.819G>T	18.37:g.58038764C>A	ENSP00000299766:p.Gln273His	Somatic		Capture	Illumina HiSeq	Phase_I	56189744	NM_005912	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719688	0.30503	.	.	ENSG00000166603	ENST00000299766	T	0.72394	-0.65	5.85	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.373878	0.27811	N	0.017753	T	0.52565	0.1742	L	0.28556	0.865	0.39901	D	0.973901	B	0.06786	0.001	B	0.10450	0.005	T	0.54410	-0.8298	10	0.59425	D	0.04	.	3.701	0.08382	0.0:0.535:0.1926:0.2724	.	273	P32245	MC4R_HUMAN	H	273	ENSP00000299766:Q273H	ENSP00000299766:Q273H	Q	-	3	2	MC4R	56189744	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.390000	0.20768	1.484000	0.48361	0.655000	0.94253	CAG		0.423	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
MC4R	4160	broad.mit.edu	37	18	58039161	58039161	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:58039161A>T	ENST00000299766.3	-	1	840	c.422T>A	c.(421-423)cTt>cAt	p.L141H		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	141					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.L141H(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGCAATTGAAAGCAGGCTGCA	0.418																																					p.L141H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T422A	18						.						96.0	85.0	89.0					18																	58039161		2203	4300	6503	56190141	SO:0001583	missense	4160	exon1			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.422T>A	18.37:g.58039161A>T	ENSP00000299766:p.Leu141His	Somatic		Capture	Illumina HiSeq	Phase_I	56190141	NM_005912	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932544	0.73442	.	.	ENSG00000166603	ENST00000299766	T	0.33216	1.42	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78450	-0.2199	10	0.66056	D	0.02	.	13.9219	0.63937	1.0:0.0:0.0:0.0	.	141	P32245	MC4R_HUMAN	H	141	ENSP00000299766:L141H	ENSP00000299766:L141H	L	-	2	0	MC4R	56190141	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.339000	0.96797	2.183000	0.69458	0.533000	0.62120	CTT		0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
CDH20	28316	broad.mit.edu	37	18	59221666	59221666	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:59221666C>T	ENST00000262717.4	+	12	2542	c.2144C>T	c.(2143-2145)aCg>aTg	p.T715M	CDH20_ENST00000538374.1_Missense_Mutation_p.T715M|CDH20_ENST00000536675.2_Missense_Mutation_p.T715M			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	715					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T715M(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCCTCAGACGTGCGCAGTG	0.672																																					p.T715M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2144T	18						.						42.0	38.0	39.0					18																	59221666		2203	4300	6503	57372646	SO:0001583	missense	28316	exon11			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2144C>T	18.37:g.59221666C>T	ENSP00000262717:p.Thr715Met	Somatic		Capture	Illumina HiSeq	Phase_I	57372646	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419179	0.83559	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.77098	-1.07;-1.07;-1.07	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.285499	0.40818	N	0.001008	T	0.75517	0.3860	N	0.14661	0.345	0.49798	D	0.999822	P	0.46512	0.879	P	0.51355	0.667	T	0.78117	-0.2329	10	0.59425	D	0.04	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	715	Q9HBT6	CAD20_HUMAN	M	715	ENSP00000444767:T715M;ENSP00000442226:T715M;ENSP00000262717:T715M	ENSP00000262717:T715M	T	+	2	0	CDH20	57372646	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.756000	0.85195	2.894000	0.99253	0.655000	0.94253	ACG		0.672	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
TMEM200C	645369	broad.mit.edu	37	18	5890223	5890223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:5890223C>A	ENST00000581347.2	-	3	2485	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|TMEM200C_ENST00000383490.2_Nonsense_Mutation_p.E614*|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	614						integral component of membrane (GO:0016021)		p.E614*(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCAGTTCTTCTTCTACCCCT	0.512																																					p.E614X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1840T	18						.						93.0	90.0	91.0					18																	5890223		1875	4107	5982	5880223	SO:0001587	stop_gained	645369	exon1				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1840G>T	18.37:g.5890223C>A	ENSP00000463375:p.Glu614*	Somatic		Capture	Illumina HiSeq	Phase_I	5880223	NM_001080209		Nonsense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249416	0.98164	.	.	ENSG00000206432	ENST00000383490	.	.	.	5.51	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.43385	D	0.995491	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.261	0.43427	0.0:0.85:0.0:0.15	.	.	.	.	X	614	.	ENSP00000372982:E614X	E	-	1	0	TMEM200C	5880223	1.000000	0.71417	0.139000	0.22197	0.786000	0.44442	3.834000	0.55798	1.313000	0.45069	0.655000	0.94253	GAA		0.512	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
ZCCHC2	54877	broad.mit.edu	37	18	60242299	60242299	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:60242299G>A	ENST00000269499.5	+	13	3403	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	ZCCHC2_ENST00000586834.1_Silent_p.T674T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	995						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.T995T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGGGGAACACGAACGCTAATG	0.602																																					p.T995T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2985A	18						.						82.0	89.0	86.0					18																	60242299		2148	4250	6398	58393279	SO:0001819	synonymous_variant	54877	exon13			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2985G>A	18.37:g.60242299G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58393279	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	CCDS45880.1																																																																																				0.602	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742	
SERPINB4	6318	broad.mit.edu	37	18	61310728	61310728	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61310728G>T	ENST00000341074.5	-	2	199	c.84C>A	c.(82-84)ttC>ttA	p.F28L	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F28L	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	28					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F28L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TAGGGGAATAGAAGATGTTGT	0.413																																					p.F28L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C84A	18						.						259.0	226.0	237.0					18																	61310728		2203	4298	6501	59461708	SO:0001583	missense	6318	exon2			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.84C>A	18.37:g.61310728G>T	ENSP00000343445:p.Phe28Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59461708	NM_002974	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.952443|2.952443	0.53293|0.53293	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.84800|.	-1.9;-1.9;-1.9|.	3.83|3.83	3.83|3.83	0.44106|0.44106	Serpin domain (3);|.	0.173869|.	0.27754|.	N|.	0.018000|.	T|T	0.63165|0.63165	0.2488|0.2488	M|M	0.78801|0.78801	2.425|2.425	0.33596|0.33596	D|D	0.601746|0.601746	D;B|.	0.76494|.	0.999;0.18|.	D;B|.	0.74674|.	0.984;0.261|.	T|T	0.72988|0.72988	-0.4124|-0.4124	10|5	0.87932|.	D|.	0|.	.|.	9.1927|9.1927	0.37209|0.37209	0.1016:0.0:0.8984:0.0|0.1016:0.0:0.8984:0.0	.|.	28;28|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	L|Y	28|30	ENSP00000343445:F28L;ENSP00000348795:F28L;ENSP00000399796:F28L|.	ENSP00000343445:F28L|.	F|S	-|-	3|2	2|0	SERPINB4|SERPINB4	59461708|59461708	0.969000|0.969000	0.33509|0.33509	0.424000|0.424000	0.26647|0.26647	0.189000|0.189000	0.23516|0.23516	2.062000|2.062000	0.41413|0.41413	2.128000|2.128000	0.65567|0.65567	0.508000|0.508000	0.49915|0.49915	TTC|TCT		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
SERPINB11	89778	broad.mit.edu	37	18	61387252	61387252	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61387252G>T	ENST00000382749.5	+	0	726				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V161F(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ACAAGGAAAAGTCGCAAATCT	0.318																																					p.V161F	Ovarian(27;496 784 5942 8975 23930)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481T	18						.						65.0	66.0	65.0					18																	61387252		1795	4060	5855	59538232			89778	exon6					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387252G>T		Somatic		Capture	Illumina HiSeq	Phase_I	59538232	NM_080475	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	G	15.72	2.916952	0.52546	.	.	ENSG00000206072	ENST00000544088	D	0.86097	-2.07	5.38	-5.39	0.02664	Serpin domain (3);	.	.	.	.	T	0.81173	0.4767	L	0.34521	1.04	0.80722	D	1	P;P	0.49783	0.928;0.901	P;P	0.53062	0.595;0.717	T	0.79495	-0.1780	9	0.87932	D	0	.	9.9832	0.41826	0.699:0.0:0.1942:0.1067	.	161;161	F5GYW9;Q96P15	.;SPB11_HUMAN	F	161	ENSP00000441497:V161F	ENSP00000421854:V161F	V	+	1	0	SERPINB11	59538232	0.877000	0.30153	0.041000	0.18516	0.499000	0.33736	0.821000	0.27338	-1.150000	0.02840	0.563000	0.77884	GTC		0.318	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
SERPINB7	8710	broad.mit.edu	37	18	61471708	61471708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61471708G>T	ENST00000398019.2	+	8	1307	c.982G>T	c.(982-984)Gag>Tag	p.E328*	SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.E328*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.E328*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.E311*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	328					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E328*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATCTTACATAGAGGTCACTGA	0.473																																					p.E328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G982T	18						.						52.0	50.0	50.0					18																	61471708		2203	4300	6503	59622688	SO:0001587	stop_gained	8710	exon8			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.982G>T	18.37:g.61471708G>T	ENSP00000381101:p.Glu328*	Somatic		Capture	Illumina HiSeq	Phase_I	59622688	NM_003784	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Nonsense_Mutation	SNP	ENST00000398019.2	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	39	7.809735	0.98501	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	.	.	.	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4827	0.95016	0.0:0.0:1.0:0.0	.	.	.	.	X	328;328;311;328	.	ENSP00000337212:E328X	E	+	1	0	SERPINB7	59622688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.271000	0.95698	2.846000	0.97976	0.650000	0.86243	GAG		0.473	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
SERPINB2	5055	broad.mit.edu	37	18	61565055	61565055	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61565055C>T	ENST00000299502.4	+	5	592	c.512C>T	c.(511-513)tCc>tTc	p.S171F	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.S171F	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	171					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S171F(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AAGATTAATTCCTGGGTCAAG	0.343																																					p.S171F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	18						.						51.0	54.0	53.0					18																	61565055		2203	4300	6503	59716035	SO:0001583	missense	5055	exon5			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.512C>T	18.37:g.61565055C>T	ENSP00000299502:p.Ser171Phe	Somatic		Capture	Illumina HiSeq	Phase_I	59716035	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997056	0.74818	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.85702	-2.02;-2.02	5.6	3.59	0.41128	Serpin domain (3);	0.470684	0.25575	N	0.029736	D	0.84288	0.5439	M	0.80332	2.49	0.80722	D	1	B	0.25206	0.12	B	0.29663	0.105	T	0.80830	-0.1207	9	.	.	.	.	10.1112	0.42563	0.0:0.7831:0.1333:0.0836	.	171	P05120	PAI2_HUMAN	F	171	ENSP00000299502:S171F;ENSP00000401645:S171F	.	S	+	2	0	SERPINB2	59716035	0.000000	0.05858	0.993000	0.49108	0.992000	0.81027	1.108000	0.31123	1.377000	0.46286	0.650000	0.86243	TCC		0.343	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
SERPINB2	5055	broad.mit.edu	37	18	61570494	61570494	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61570494G>A	ENST00000299502.4	+	8	1283	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	SERPINB2_ENST00000457692.1_Silent_p.K401K	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	401					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K401K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TTATGCATAAGATAACCAACT	0.438																																					p.K401K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1203A	18						.						72.0	80.0	77.0					18																	61570494		2203	4300	6503	59721474	SO:0001819	synonymous_variant	5055	exon8			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1203G>A	18.37:g.61570494G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59721474	NM_002575	Q96E96	Silent	SNP	ENST00000299502.4	37	CCDS11989.1																																																																																				0.438	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
SERPINB10	5273	broad.mit.edu	37	18	61597399	61597399	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61597399A>G	ENST00000238508.3	+	6	670	c.611A>G	c.(610-612)gAa>gGa	p.E204G		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	204					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E204G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AACACCACAGAAAAGCCTTTT	0.368																																					p.E204G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A611G	18						.						84.0	90.0	88.0					18																	61597399		2202	4299	6501	59748379	SO:0001583	missense	5273	exon5			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.611A>G	18.37:g.61597399A>G	ENSP00000238508:p.Glu204Gly	Somatic		Capture	Illumina HiSeq	Phase_I	59748379	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072341	0.76415	.	.	ENSG00000242550	ENST00000238508	D	0.85171	-1.95	5.71	5.71	0.89125	Serpin domain (3);	0.106301	0.64402	D	0.000005	D	0.90689	0.7079	M	0.85945	2.785	0.45607	D	0.998543	P	0.47484	0.896	P	0.53224	0.721	D	0.90755	0.4660	10	0.41790	T	0.15	.	15.1821	0.72968	1.0:0.0:0.0:0.0	.	204	P48595	SPB10_HUMAN	G	204	ENSP00000238508:E204G	ENSP00000238508:E204G	E	+	2	0	SERPINB10	59748379	0.980000	0.34600	0.993000	0.49108	0.935000	0.57460	5.124000	0.64709	2.192000	0.70111	0.533000	0.62120	GAA		0.368	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
HMSD	284293	broad.mit.edu	37	18	61627508	61627508	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61627508A>C	ENST00000408945.3	+	4	541	c.339A>C	c.(337-339)aaA>aaC	p.K113N	HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	113						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K113N(1)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATAAAACTAAAGGTGAAAATA	0.318																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A339C	18						.						65.0	60.0	61.0					18																	61627508		1568	3582	5150	59778488	SO:0001583	missense	284293	exon4			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.339A>C	18.37:g.61627508A>C	ENSP00000386207:p.Lys113Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59778488	NM_001123366		Missense_Mutation	SNP	ENST00000408945.3	37	CCDS42441.1	.	.	.	.	.	.	.	.	.	.	A	7.091	0.572187	0.13623	.	.	ENSG00000221887	ENST00000408945	T	0.81330	-1.48	1.7	1.7	0.24286	Serpin domain (2);	.	.	.	.	T	0.60051	0.2239	N	0.10664	0.02	0.24055	N	0.996032	B	0.21071	0.051	B	0.22152	0.038	T	0.50676	-0.8800	9	0.40728	T	0.16	.	5.3556	0.16059	1.0:0.0:0.0:0.0	.	113	A8MTL9	HMSD_HUMAN	N	113	ENSP00000386207:K113N	ENSP00000386207:K113N	K	+	3	2	HMSD	59778488	1.000000	0.71417	0.080000	0.20451	0.007000	0.05969	1.811000	0.38942	0.755000	0.32990	0.260000	0.18958	AAA		0.318	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104	
CLUL1	27098	broad.mit.edu	37	18	618037	618037	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:618037C>T	ENST00000400606.2	+	2	182	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	CLUL1_ENST00000579494.1_Silent_p.L13L|CLUL1_ENST00000540035.1_Silent_p.L65L|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000581619.1_Silent_p.L38L|CLUL1_ENST00000338387.7_Silent_p.L13L	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	13					cell death (GO:0008219)	extracellular region (GO:0005576)		p.L13L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGTGTGTCTGCTGTGGTTGAA	0.448																																					p.L13L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C37T	18						.						122.0	125.0	124.0					18																	618037		2007	4181	6188	608037	SO:0001819	synonymous_variant	27098	exon2			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.37C>T	18.37:g.618037C>T		Somatic		Capture	Illumina HiSeq	Phase_I	608037	NM_199167	A0FDN7	Silent	SNP	ENST00000400606.2	37	CCDS42405.1																																																																																				0.448	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
SERPINB8	5271	broad.mit.edu	37	18	61654267	61654267	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:61654267G>A	ENST00000397985.2	+	7	1136	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	SERPINB8_ENST00000542677.1_Missense_Mutation_p.E112K|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E294K	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	294					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E294K(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGCTTTTGACGAAGCCAAGGC	0.453																																					p.E294K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	18						.						117.0	102.0	107.0					18																	61654267		2203	4300	6503	59805247	SO:0001583	missense	5271	exon7			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.880G>A	18.37:g.61654267G>A	ENSP00000381072:p.Glu294Lys	Somatic		Capture	Illumina HiSeq	Phase_I	59805247	NM_002640	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806838	0.16467	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.84442	-1.85;-1.85;2.76	5.65	4.78	0.61160	Serpin domain (3);	0.468970	0.24085	N	0.041698	T	0.75155	0.3811	L	0.48877	1.53	0.09310	N	1	B	0.17852	0.024	B	0.21546	0.035	T	0.57306	-0.7834	10	0.07175	T	0.84	.	4.8496	0.13530	0.0786:0.1368:0.6247:0.1599	.	294	P50452	SPB8_HUMAN	K	294;294;112	ENSP00000381072:E294K;ENSP00000331368:E294K;ENSP00000438328:E112K	ENSP00000331368:E294K	E	+	1	0	SERPINB8	59805247	0.000000	0.05858	0.962000	0.40283	0.881000	0.50899	-0.206000	0.09398	1.630000	0.50440	0.655000	0.94253	GAA		0.453	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848	
CDH19	28513	broad.mit.edu	37	18	64211241	64211241	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:64211241G>A	ENST00000540086.1	-	7	1427	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	CDH19_ENST00000262150.2_Missense_Mutation_p.A394V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	497	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A394V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGGTCTGTGGCAGACACCAC	0.358																																					p.A394V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1181T	18						.						47.0	48.0	48.0					18																	64211241		2203	4300	6503	62362221	SO:0001583	missense	28513	exon7			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1181C>T	18.37:g.64211241G>A	ENSP00000439593:p.Ala394Val	Somatic		Capture	Illumina HiSeq	Phase_I	62362221	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234733	0.58886	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.59364	0.27;0.27	5.62	5.62	0.85841	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.92691	3.335	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86138	0.1579	10	0.87932	D	0	.	19.6326	0.95717	0.0:0.0:1.0:0.0	.	394;394	F5H1K0;Q9H159	.;CAD19_HUMAN	V	394;394;339	ENSP00000262150:A394V;ENSP00000439593:A394V	ENSP00000262150:A394V	A	-	2	0	CDH19	62362221	1.000000	0.71417	0.933000	0.37362	0.938000	0.57974	8.339000	0.90041	2.822000	0.97130	0.650000	0.86243	GCC		0.358	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
DSEL	92126	broad.mit.edu	37	18	65179949	65179949	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:65179949T>C	ENST00000310045.7	-	2	3400	c.1927A>G	c.(1927-1929)Aaa>Gaa	p.K643E	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	633					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.K643E(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CAAAACATTTTGTAATGTGCA	0.348																																					p.K643E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1927G	18						.						65.0	64.0	65.0					18																	65179949		2203	4300	6503	63330929	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1927A>G	18.37:g.65179949T>C	ENSP00000310565:p.Lys643Glu	Somatic		Capture	Illumina HiSeq	Phase_I	63330929	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655084	0.47467	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.21932	1.98	5.53	5.53	0.82687	.	0.061562	0.64402	U	0.000007	T	0.29556	0.0737	M	0.78916	2.43	0.41802	D	0.989922	B	0.17038	0.02	B	0.12837	0.008	T	0.06427	-1.0827	10	0.49607	T	0.09	.	15.3077	0.74004	0.0:0.0:0.0:1.0	.	633	Q8IZU8	DSEL_HUMAN	E	643;633	ENSP00000310565:K643E	ENSP00000310565:K643E	K	-	1	0	DSEL	63330929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.074000	0.71253	2.110000	0.64415	0.379000	0.24179	AAA		0.348	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DSEL	92126	broad.mit.edu	37	18	65180851	65180851	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:65180851G>T	ENST00000310045.7	-	2	2498	c.1025C>A	c.(1024-1026)tCc>tAc	p.S342Y	CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	332					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S342Y(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATTATAATTGGAATCTGCTAT	0.363																																					p.S342Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1025A	18						.						73.0	77.0	75.0					18																	65180851		2202	4300	6502	63331831	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1025C>A	18.37:g.65180851G>T	ENSP00000310565:p.Ser342Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	63331831	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686440	0.68157	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.43294	0.95	4.9	4.9	0.64082	.	0.067400	0.64402	U	0.000009	T	0.58206	0.2106	M	0.78049	2.395	0.58432	D	0.999996	D	0.58970	0.984	P	0.51453	0.67	T	0.66567	-0.5891	10	0.87932	D	0	-11.7079	18.4608	0.90737	0.0:0.0:1.0:0.0	.	332	Q8IZU8	DSEL_HUMAN	Y	342;332	ENSP00000310565:S342Y	ENSP00000310565:S342Y	S	-	2	0	DSEL	63331831	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	9.628000	0.98415	2.460000	0.83146	0.563000	0.77884	TCC		0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
CCDC102B	79839	broad.mit.edu	37	18	66504514	66504514	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:66504514G>T	ENST00000360242.5	+	2	631	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D172Y|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D172Y|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D172Y|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	172								p.D172Y(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAACATACAGACCAATTTCA	0.378																																					p.D172Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514T	18						.						109.0	107.0	108.0					18																	66504514		1866	4101	5967	64655494	SO:0001583	missense	79839	exon4			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.514G>T	18.37:g.66504514G>T	ENSP00000353377:p.Asp172Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64655494	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094126	0.20471	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.62788	-0.0;-0.0;-0.0	5.04	5.04	0.67666	.	0.947890	0.08705	N	0.905772	T	0.68869	0.3048	L	0.32530	0.975	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.56960	0.81;0.81	T	0.62784	-0.6781	10	0.72032	D	0.01	-2.3173	15.5451	0.76093	0.0:0.0:1.0:0.0	.	172;172	Q68D86-3;Q68D86	.;C102B_HUMAN	Y	172	ENSP00000316237:D172Y;ENSP00000351479:D172Y;ENSP00000353377:D172Y	ENSP00000316237:D172Y	D	+	1	0	CCDC102B	64655494	0.294000	0.24380	0.008000	0.14137	0.053000	0.15095	3.331000	0.52075	2.340000	0.79590	0.557000	0.71058	GAC		0.378	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
DOK6	220164	broad.mit.edu	37	18	67365728	67365728	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:67365728C>A	ENST00000382713.5	+	5	688	c.498C>A	c.(496-498)ctC>ctA	p.L166L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	166	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.L166L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATATCTATCTCTGGGATATCC	0.453																																					p.L166L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	18						.						116.0	97.0	103.0					18																	67365728		2203	4300	6503	65516708	SO:0001819	synonymous_variant	220164	exon5			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.498C>A	18.37:g.67365728C>A		Somatic		Capture	Illumina HiSeq	Phase_I	65516708	NM_152721	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	CCDS32841.1																																																																																				0.453	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
RTTN	25914	broad.mit.edu	37	18	67671443	67671443	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:67671443T>G	ENST00000255674.6	-	49	6911	c.6625A>C	c.(6625-6627)Aat>Cat	p.N2209H	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2209					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.N2209H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TAATAGGCATTTAGAGGGTTT	0.403																																					p.N2209H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6625C	18						.						144.0	136.0	138.0					18																	67671443		1836	4094	5930	65822423	SO:0001583	missense	25914	exon49			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6625A>C	18.37:g.67671443T>G	ENSP00000255674:p.Asn2209His	Somatic		Capture	Illumina HiSeq	Phase_I	65822423	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234236	0.58886	.	.	ENSG00000176225	ENST00000255674	T	0.48201	0.82	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.317948	0.30277	N	0.009990	T	0.56232	0.1971	L	0.46157	1.445	0.80722	D	1	D	0.53885	0.963	P	0.60473	0.875	T	0.58847	-0.7564	10	0.66056	D	0.02	.	9.9331	0.41534	0.0:0.0812:0.0:0.9188	.	2209	Q86VV8	RTTN_HUMAN	H	2209	ENSP00000255674:N2209H	ENSP00000255674:N2209H	N	-	1	0	RTTN	65822423	0.985000	0.35326	0.982000	0.44146	0.548000	0.35241	1.111000	0.31159	1.912000	0.55364	0.477000	0.44152	AAT		0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
ARHGAP28	79822	broad.mit.edu	37	18	6876132	6876132	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6876132T>G	ENST00000383472.4	+	10	1319	c.1215T>G	c.(1213-1215)ttT>ttG	p.F405L	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.F353L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.F246L|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.F246L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.F228L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.F405L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.F241L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.F246L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	405	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.F405L(1)|p.F246L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTTCTAGTTTTTTGAGAAAG	0.338																																					p.F246L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T738G	18						.						125.0	120.0	122.0					18																	6876132		2203	4300	6503	6866132	SO:0001583	missense	79822	exon9			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1215T>G	18.37:g.6876132T>G	ENSP00000372964:p.Phe405Leu	Somatic		Capture	Illumina HiSeq	Phase_I	6866132	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	T	5.275	0.236227	0.10023	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.74	0.884	0.19182	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.219639	0.44285	D	0.000474	T	0.02193	0.0068	N	0.00224	-1.81	0.29533	N	0.852624	B;B;B;B	0.16603	0.006;0.018;0.003;0.001	B;B;B;B	0.15052	0.005;0.012;0.007;0.001	T	0.35847	-0.9772	10	0.02654	T	1	.	1.7348	0.02939	0.1313:0.328:0.1532:0.3875	.	405;237;246;353	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	405;353;246;241;246;246;237;228	ENSP00000382963:F405L;ENSP00000262227:F353L;ENSP00000392660:F246L;ENSP00000437262:F241L;ENSP00000313506:F246L;ENSP00000406907:F246L	ENSP00000262227:F353L	F	+	3	2	ARHGAP28	6866132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.403000	0.20982	0.202000	0.20498	0.459000	0.35465	TTT		0.338	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
LAMA1	284217	broad.mit.edu	37	18	6949109	6949109	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6949109T>G	ENST00000389658.3	-	59	8640	c.8547A>C	c.(8545-8547)aaA>aaC	p.K2849N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2849	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K2849N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATTTCCAATTTTCCTGGCCT	0.463																																					p.K2849N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8547C	18						.						89.0	73.0	78.0					18																	6949109		2203	4300	6503	6939109	SO:0001583	missense	284217	exon59			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8547A>C	18.37:g.6949109T>G	ENSP00000374309:p.Lys2849Asn	Somatic		Capture	Illumina HiSeq	Phase_I	6939109	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	4.097	0.016068	0.07959	.	.	ENSG00000101680	ENST00000389658	T	0.76448	-1.02	5.64	1.23	0.21249	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.350952	0.31472	N	0.007594	T	0.34424	0.0897	N	0.00465	-1.465	0.23962	N	0.996336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.42430	-0.9452	10	0.07030	T	0.85	.	3.8397	0.08909	0.3774:0.0:0.4491:0.1735	.	2849;179	P25391;B3KSD8	LAMA1_HUMAN;.	N	2849	ENSP00000374309:K2849N	ENSP00000374309:K2849N	K	-	3	2	LAMA1	6939109	0.992000	0.36948	0.998000	0.56505	0.481000	0.33189	0.257000	0.18369	0.320000	0.23234	-0.310000	0.09108	AAA		0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6950820	6950820	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6950820G>T	ENST00000389658.3	-	58	8451	c.8358C>A	c.(8356-8358)gtC>gtA	p.V2786V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2786	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.V2786V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGGGTGAGAGACCTTTGTTC	0.552																																					p.V2786V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8358A	18						.						136.0	115.0	122.0					18																	6950820		2203	4300	6503	6940820	SO:0001819	synonymous_variant	284217	exon58			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8358C>A	18.37:g.6950820G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6940820	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6971976	6971976	+	Missense_Mutation	SNP	G	G	T	rs146652610	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6971976G>T	ENST00000389658.3	-	48	6872	c.6779C>A	c.(6778-6780)tCt>tAt	p.S2260Y	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2260	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S2260Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAGCAGGAGATTTCTAATG	0.408													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.0				p.S2260Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6779A	18						.	G	TYR/SER	2,4404	4.2+/-10.8	0,2,2201	70.0	67.0	68.0		6779	5.5	1.0	18	dbSNP_134	68	0,8600		0,0,4300	yes	missense	LAMA1	NM_005559.3	144	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	probably-damaging	2260/3076	6971976	2,13004	2203	4300	6503	6961976	SO:0001583	missense	284217	exon48			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6779C>A	18.37:g.6971976G>T	ENSP00000374309:p.Ser2260Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	6961976	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	26.1	4.701771	0.88924	4.54E-4	0.0	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.143556	0.47852	D	0.000209	D	0.84160	0.5411	M	0.65975	2.015	0.52501	D	0.999959	D	0.89917	1.0	D	0.79108	0.992	D	0.86458	0.1777	10	0.87932	D	0	.	19.7972	0.96491	0.0:0.0:1.0:0.0	.	2260	P25391	LAMA1_HUMAN	Y	2260	ENSP00000374309:S2260Y	ENSP00000374309:S2260Y	S	-	2	0	LAMA1	6961976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.106000	0.94253	2.756000	0.94617	0.643000	0.83706	TCT		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6978322	6978322	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6978322G>A	ENST00000389658.3	-	43	6156	c.6063C>T	c.(6061-6063)agC>agT	p.S2021S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2021	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S2021S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCTCACCGCGCTCTGGCTTG	0.532																																					p.S2021S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|stomach(1)	c.C6063T	18						.						99.0	93.0	95.0					18																	6978322		2203	4300	6503	6968322	SO:0001819	synonymous_variant	284217	exon43			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6063C>T	18.37:g.6978322G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6968322	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6982583	6982583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6982583C>A	ENST00000389658.3	-	41	5896	c.5803G>T	c.(5803-5805)Gaa>Taa	p.E1935*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1935	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1935*(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACAAGGGATTCTGAGAGCTGG	0.547																																					p.E1935X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5803T	18						.						98.0	97.0	98.0					18																	6982583		2203	4300	6503	6972583	SO:0001587	stop_gained	284217	exon41			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5803G>T	18.37:g.6982583C>A	ENSP00000374309:p.Glu1935*	Somatic		Capture	Illumina HiSeq	Phase_I	6972583	NM_005559		Nonsense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	46	12.671493	0.99687	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.47	5.47	0.80525	.	0.874893	0.10062	N	0.720811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	17.4613	0.87620	0.0:1.0:0.0:0.0	.	.	.	.	X	1935	.	ENSP00000374309:E1935X	E	-	1	0	LAMA1	6972583	0.013000	0.17824	0.099000	0.21106	0.711000	0.40976	2.288000	0.43514	2.715000	0.92844	0.655000	0.94253	GAA		0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
NETO1	81832	broad.mit.edu	37	18	70450978	70450978	+	Missense_Mutation	SNP	C	C	T	rs370635787		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:70450978C>T	ENST00000327305.6	-	7	1460	c.803G>A	c.(802-804)cGc>cAc	p.R268H	NETO1_ENST00000299430.2_Missense_Mutation_p.R267H|NETO1_ENST00000583169.1_Missense_Mutation_p.R268H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	268	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R268H(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCCCACATGCGGATCACCCC	0.478																																					p.R268H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G803A	18						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	182.0	156.0	165.0		803,803	5.5	1.0	18		165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NETO1	NM_001201465.1,NM_138966.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	268/534,268/534	70450978	1,13005	2203	4300	6503	68601958	SO:0001583	missense	81832	exon7			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.803G>A	18.37:g.70450978C>T	ENSP00000313088:p.Arg268His	Somatic		Capture	Illumina HiSeq	Phase_I	68601958	NM_138966	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	36	5.741754	0.96873	0.0	1.16E-4	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.18960	2.18;2.18	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000011	T	0.51007	0.1649	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.976	D;P	0.80764	0.994;0.642	T	0.52540	-0.8562	10	0.87932	D	0	-34.3662	19.8487	0.96730	0.0:1.0:0.0:0.0	.	267;268	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	268;267	ENSP00000313088:R268H;ENSP00000299430:R267H	ENSP00000299430:R267H	R	-	2	0	NETO1	68601958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.748000	0.94277	0.650000	0.86243	CGC		0.478	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
CYB5A	1528	broad.mit.edu	37	18	71959063	71959063	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:71959063C>A	ENST00000340533.4	-	1	188	c.48G>T	c.(46-48)gaG>gaT	p.E16D	CYB5A_ENST00000299438.9_5'Flank|CYB5A_ENST00000494131.2_Missense_Mutation_p.E16D|CYB5A_ENST00000397914.4_Missense_Mutation_p.E16D	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	16	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.			EEIQ -> QEIE (in Ref. 10; AA sequence, 11; AA sequence and 12; AA sequence). {ECO:0000305}.	hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.E16D(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				GCTTCTGAATCTCCTCTAGGG	0.587											OREG0025052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E16D	NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G48T	18						.						254.0	212.0	226.0					18																	71959063		2203	4300	6503	70110043	SO:0001583	missense	1528	exon1			M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"""Cytochrome b genes"""	2570	protein-coding gene	gene with protein product		613218	"""cytochrome b-5"", ""cytochrome b5 (microsomal)"""	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.48G>T	18.37:g.71959063C>A	ENSP00000341625:p.Glu16Asp	Somatic	1134	Capture	Illumina HiSeq	Phase_I	70110043	NM_148923	A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	ENST00000340533.4	37	CCDS12004.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628791	0.67015	.	.	ENSG00000166347	ENST00000397914;ENST00000340533;ENST00000299438	D;D	0.82081	-1.57;-1.57	5.39	4.53	0.55603	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86731	0.1948	10	0.41790	T	0.15	-2.1308	9.4314	0.38612	0.0:0.8376:0.0:0.1624	.	16;16	P00167;P00167-2	CYB5_HUMAN;.	D	16	ENSP00000381011:E16D;ENSP00000341625:E16D	ENSP00000299438:E16D	E	-	3	2	CYB5A	70110043	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	2.100000	0.41777	1.515000	0.48885	-0.142000	0.14014	GAG		0.587	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1	NM_001914, NM_148923	
CNDP1	84735	broad.mit.edu	37	18	72226584	72226584	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:72226584G>T	ENST00000358821.3	+	3	408	c.180G>T	c.(178-180)gaG>gaT	p.E60D	CNDP1_ENST00000582365.1_Missense_Mutation_p.E17D|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000585136.1_3'UTR	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	60						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.E60D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGCCATCGAGAGCGACTCTG	0.637																																					p.E60D	Melanoma(32;1029 1042 25286 38395 44237)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G180T	18						.						98.0	84.0	88.0					18																	72226584		2203	4300	6503	70377564	SO:0001583	missense	84735	exon3				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.180G>T	18.37:g.72226584G>T	ENSP00000351682:p.Glu60Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70377564	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515516	0.27123	.	.	ENSG00000150656	ENST00000358821	T	0.07216	3.21	5.37	3.42	0.39159	.	0.243874	0.41097	D	0.000949	T	0.07683	0.0193	L	0.55834	1.745	0.43467	D	0.995679	B	0.32031	0.352	B	0.26969	0.075	T	0.09037	-1.0693	10	0.54805	T	0.06	-39.0891	6.259	0.20889	0.2029:0.152:0.645:0.0	.	60	Q96KN2	CNDP1_HUMAN	D	60	ENSP00000351682:E60D	ENSP00000351682:E60D	E	+	3	2	CNDP1	70377564	1.000000	0.71417	0.988000	0.46212	0.303000	0.27691	2.464000	0.45067	2.516000	0.84829	0.643000	0.83706	GAG		0.637	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	
CNDP1	84735	broad.mit.edu	37	18	72245509	72245509	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:72245509A>C	ENST00000358821.3	+	9	1342	c.1114A>C	c.(1114-1116)Aaa>Caa	p.K372Q	CNDP1_ENST00000582365.1_Missense_Mutation_p.K329Q	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	372						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.K372Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGTTATAGGAAAATTTTCAAT	0.428																																					p.K372Q	Melanoma(32;1029 1042 25286 38395 44237)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1114C	18						.						138.0	131.0	133.0					18																	72245509		2203	4300	6503	70396489	SO:0001583	missense	84735	exon9				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1114A>C	18.37:g.72245509A>C	ENSP00000351682:p.Lys372Gln	Somatic		Capture	Illumina HiSeq	Phase_I	70396489	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405015	0.62288	.	.	ENSG00000150656	ENST00000358821	T	0.59906	0.23	5.64	5.64	0.86602	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83439	0.0042	10	0.87932	D	0	-35.8214	15.5226	0.75875	1.0:0.0:0.0:0.0	.	372	Q96KN2	CNDP1_HUMAN	Q	372	ENSP00000351682:K372Q	ENSP00000351682:K372Q	K	+	1	0	CNDP1	70396489	1.000000	0.71417	0.898000	0.35279	0.045000	0.14185	8.996000	0.93539	2.145000	0.66743	0.528000	0.53228	AAA		0.428	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	
ZADH2	284273	broad.mit.edu	37	18	72913496	72913496	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:72913496G>T	ENST00000322342.3	-	2	1298	c.1009C>A	c.(1009-1011)Ctg>Atg	p.L337M	ZADH2_ENST00000537114.2_Missense_Mutation_p.L214M	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	337						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.L337M(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TCTGGAGACAGATCTCCAAGG	0.463																																					p.L337M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009A	18						.						78.0	77.0	78.0					18																	72913496		2203	4300	6503	71042484	SO:0001583	missense	284273	exon2			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.1009C>A	18.37:g.72913496G>T	ENSP00000323678:p.Leu337Met	Somatic		Capture	Illumina HiSeq	Phase_I	71042484	NM_175907	A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702658	0.15172	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.15603	3.27;2.41	5.61	2.22	0.28083	.	0.382752	0.24325	N	0.039520	T	0.14270	0.0345	L	0.57536	1.79	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.50742	-0.8792	10	0.28530	T	0.3	-0.235	3.2437	0.06789	0.1011:0.2654:0.4234:0.2101	.	337	Q8N4Q0	ZADH2_HUMAN	M	337;214	ENSP00000323678:L337M;ENSP00000440111:L214M	ENSP00000323678:L337M	L	-	1	2	ZADH2	71042484	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.062000	0.11674	-2.546000	0.00482	0.524000	0.50904	CTG		0.463	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																					p.A176A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	18						.						96.0	103.0	100.0					18																	7231664		2112	4226	6338	7221664	SO:0001819	synonymous_variant	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7221664	NM_001105581		Silent	SNP	ENST00000383467.2	37	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
TSHZ1	10194	broad.mit.edu	37	18	72998236	72998237	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:72998236_72998237CG>TA	ENST00000580243.1	+	2	1222_1223	c.874_875CG>TA	c.(874-876)CGc>TAc	p.R292Y	TSHZ1_ENST00000322038.5_Missense_Mutation_p.R247Y			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	292					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R247>?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCCAGGAAGCGCTCCCTGATG	0.579																																					.												.	.	1	Complex(1)	large_intestine(1)	c.739_740TA	18						NA																																			71127225	SO:0001583	missense	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	Exception_encountered	18.37:g.72998236_72998237delinsTA	ENSP00000464391:p.Arg292Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	71127224	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	DNP	ENST00000580243.1	37																																																																																					0.579	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
SALL3	27164	broad.mit.edu	37	18	76757082	76757082	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:76757082C>T	ENST00000537592.2	+	3	3663	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N	SALL3_ENST00000575389.2_Silent_p.N1149N|SALL3_ENST00000536229.3_Silent_p.N1016N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1221					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N1221N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCATCACTAACGGGCTCGCCA	0.592																																					p.N1221N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3663T	18						.						108.0	99.0	102.0					18																	76757082		2203	4300	6503	74858070	SO:0001819	synonymous_variant	27164	exon3			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3663C>T	18.37:g.76757082C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74858070	NM_171999	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																				0.592	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
NFATC1	4772	broad.mit.edu	37	18	77211032	77211032	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:77211032G>T	ENST00000427363.2	+	5	1668	c.1668G>T	c.(1666-1668)aaG>aaT	p.K556N	NFATC1_ENST00000587635.1_Missense_Mutation_p.K556N|NFATC1_ENST00000397790.2_Missense_Mutation_p.K84N|NFATC1_ENST00000592223.1_Missense_Mutation_p.K543N|NFATC1_ENST00000542384.1_Missense_Mutation_p.K556N|NFATC1_ENST00000545796.1_Missense_Mutation_p.K84N|NFATC1_ENST00000329101.4_Missense_Mutation_p.K543N|NFATC1_ENST00000591814.1_Missense_Mutation_p.K556N|NFATC1_ENST00000253506.5_Missense_Mutation_p.K556N|NFATC1_ENST00000318065.5_Missense_Mutation_p.K543N|NFATC1_ENST00000586434.1_Missense_Mutation_p.K543N			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	556	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K543N(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TCGGGAGGAAGAACACACGGG	0.572																																					p.K556N	GBM(151;1210 2593 28719 45011)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1668T	18						.						124.0	124.0	124.0					18																	77211032		2203	4300	6503	75312020	SO:0001583	missense	4772	exon5			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1668G>T	18.37:g.77211032G>T	ENSP00000389377:p.Lys556Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75312020	NM_006162	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	G	15.09	2.731365	0.48939	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.65	3.78	0.43462	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.106419	0.64402	D	0.000006	T	0.69396	0.3106	M	0.82630	2.6	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.74034	-0.3794	10	0.87932	D	0	-39.8047	12.7888	0.57522	0.0803:0.0:0.9197:0.0	.	543;543;556;556;556;543;556	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	N	556;556;84;556;543;84;543;520	ENSP00000253506:K556N;ENSP00000380892:K84N;ENSP00000442435:K556N;ENSP00000327850:K543N;ENSP00000439992:K84N	ENSP00000253506:K556N	K	+	3	2	NFATC1	75312020	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	3.015000	0.49599	0.955000	0.37878	0.563000	0.77884	AAG		0.572	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
TXNL4A	10907	broad.mit.edu	37	18	77733841	77733841	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:77733841C>A	ENST00000269601.5	-	3	473	c.273G>T	c.(271-273)atG>atT	p.M91I	TXNL4A_ENST00000592957.1_Missense_Mutation_p.M20I|TXNL4A_ENST00000588162.1_Missense_Mutation_p.D57Y|TXNL4A_ENST00000592837.1_Missense_Mutation_p.M20I|TXNL4A_ENST00000585474.1_Missense_Mutation_p.M20I	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	91					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)		p.M91I(1)		breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCAAGTCAATCATGATGTGCT	0.473																																					p.M91I	Ovarian(160;2333 2597 11821 36245)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G273T	18						.						164.0	139.0	148.0					18																	77733841		2203	4300	6503	75834829	SO:0001583	missense	10907	exon3			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.273G>T	18.37:g.77733841C>A	ENSP00000269601:p.Met91Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75834829	NM_006701	B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	37	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608653	0.87258	.	.	ENSG00000141759	ENST00000269601	.	.	.	5.56	5.56	0.83823	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	H	0.97023	3.925	0.80722	D	1	B	0.31174	0.311	P	0.44921	0.464	D	0.88159	0.2856	9	0.62326	D	0.03	-16.6277	19.4685	0.94952	0.0:1.0:0.0:0.0	.	91	P83876	TXN4A_HUMAN	I	91	.	ENSP00000269601:M91I	M	-	3	0	TXNL4A	75834829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.443000	0.73447	2.772000	0.95346	0.591000	0.81541	ATG		0.473	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701	
YES1	7525	broad.mit.edu	37	18	751701	751701	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:751701T>G	ENST00000584307.1	-	3	542				YES1_ENST00000314574.4_Intron|YES1_ENST00000577611.1_5'Flank|YES1_ENST00000577961.1_Intron			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase						blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTCATGACACTTACGTATTGT	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						90.0	95.0	93.0					18																	751701		2203	4299	6502	741701	SO:0001627	intron_variant	7525	.			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.371+3A>C	18.37:g.751701T>G		Somatic		Capture	Illumina HiSeq	Phase_I	741701	.	A6NLB3|D3DUH1	Intron	SNP	ENST00000584307.1	37	CCDS11824.1																																																																																				0.363	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	
ADCYAP1	116	broad.mit.edu	37	18	905390	905390	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:905390G>T	ENST00000579794.1	+	1	281	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Start_Codon_SNP_p.M1I|RP11-672L10.2_ENST00000577358.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	1					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.M1I(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGCGCAGAATGACCATGTGTA	0.632																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	18						.						93.0	83.0	87.0					18																	905390		2203	4300	6503	895390	SO:0001582	initiator_codon_variant	116	exon1			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.3G>T	18.37:g.905390G>T	ENSP00000462647:p.Met1Ile	Somatic		Capture	Illumina HiSeq	Phase_I	895390	NM_001117	B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973085	0.53614	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.91	4.04	0.47022	.	0.176159	0.64402	D	0.000017	T	0.39436	0.1078	.	.	.	0.09310	N	0.999994	B	0.26318	0.146	B	0.21360	0.034	T	0.39742	-0.9599	8	0.87932	D	0	.	13.3274	0.60467	0.0774:0.0:0.9226:0.0	.	1	P18509	PACA_HUMAN	I	140;1;1	.	ENSP00000269200:M1I	M	+	3	0	ADCYAP1	895390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.900000	0.75687	1.064000	0.40671	0.467000	0.42956	ATG		0.632	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117	Missense_Mutation
DLGAP1	9229	broad.mit.edu	37	18	3597204	3597204	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:3597204T>C	ENST00000315677.3	-	8	2187				DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1-AS1_ENST00000317114.1_RNA|DLGAP1-AS1_ENST00000574411.1_RNA|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000400145.2_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1-AS1_ENST00000575606.1_RNA|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000400147.2_Intron|DLGAP1-AS1_ENST00000573355.1_RNA|DLGAP1_ENST00000581527.1_Intron|DLGAP1-AS1_ENST00000576606.1_RNA|DLGAP1-AS1_ENST00000577995.1_RNA|DLGAP1_ENST00000515196.2_Intron	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.L122S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAACTTTCTTTACCTCCTAGT	0.403																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	18						.						39.0	37.0	38.0					18																	3597204		1826	4100	5926	3587204	SO:0001627	intron_variant	649446	.			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1592-14958A>G	18.37:g.3597204T>C		Somatic		Capture	Illumina HiSeq	Phase_I	3587204	.	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	8.061	0.768054	0.15983	.	.	ENSG00000177337	ENST00000317114	.	.	.	4.41	-0.898	0.10550	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39210	-0.9625	5	0.87932	D	0	.	3.3681	0.07211	0.172:0.3033:0.0:0.5247	.	.	.	.	S	122	.	ENSP00000319936:L122S	L	+	2	0	AP002478.1	3587204	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.257000	0.08745	-0.034000	0.13713	0.533000	0.62120	TTA		0.403	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
LAMA1	284217	broad.mit.edu	37	18	6980512	6980512	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:6980512C>A	ENST00000389658.3	-	42	6101					NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAAGTCCTTTCCACTTACCTT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						176.0	152.0	160.0					18																	6980512		2202	4300	6502	6970512	SO:0001627	intron_variant	284217	.			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6007+7G>T	18.37:g.6980512C>A		Somatic		Capture	Illumina HiSeq	Phase_I	6970512	.		Intron	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.368	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	7049265	7049265	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:7049265G>A	ENST00000389658.3	-	5	682					NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTGAAGATGAAGGCATCAA	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						84.0	71.0	76.0					18																	7049265		2203	4300	6503	7039265	SO:0001627	intron_variant	284217	.			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.589-9C>T	18.37:g.7049265G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7039265	.		Intron	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.413	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
PTPRM	5797	broad.mit.edu	37	18	7888178	7888178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:7888178G>T	ENST00000332175.8	+	3	1308	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E91*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E91*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E29*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	91	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E91*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCAACTTAAAGAAAATGACAC	0.478																																					p.E91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G271T	18						.						141.0	144.0	143.0					18																	7888178		2203	4300	6503	7878178	SO:0001587	stop_gained	5797	exon3			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.271G>T	18.37:g.7888178G>T	ENSP00000331418:p.Glu91*	Somatic		Capture	Illumina HiSeq	Phase_I	7878178	NM_002845	A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	47	13.237332	0.99729	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8984	0.96975	0.0:0.0:1.0:0.0	.	.	.	.	X	91;91;29	.	ENSP00000331418:E91X	E	+	1	0	PTPRM	7878178	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	8.062000	0.89475	2.713000	0.92767	0.655000	0.94253	GAA		0.478	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8085801	8085801	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8085801A>G	ENST00000332175.8	+	10	2721	c.1684A>G	c.(1684-1686)Acc>Gcc	p.T562A	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.T349A|PTPRM_ENST00000580170.1_Missense_Mutation_p.T562A|PTPRM_ENST00000400060.4_Missense_Mutation_p.T562A|PTPRM_ENST00000400053.4_Missense_Mutation_p.T500A	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	562	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T562S(1)|p.T562A(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATACTCCTTTACCATCCGAGC	0.423																																					p.T562A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1684G	18						.						104.0	95.0	98.0					18																	8085801		2203	4299	6502	8075801	SO:0001583	missense	5797	exon10			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1684A>G	18.37:g.8085801A>G	ENSP00000331418:p.Thr562Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8075801	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957008	0.73902	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.048798	0.85682	D	0.000000	T	0.57799	0.2078	M	0.69358	2.11	0.58432	D	0.999996	B;P;P	0.39831	0.362;0.69;0.69	B;P;P	0.44990	0.332;0.466;0.466	T	0.54043	-0.8352	10	0.16896	T	0.51	.	16.2644	0.82568	1.0:0.0:0.0:0.0	.	349;562;562	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	A	562;562;500;349	ENSP00000331418:T562A;ENSP00000382933:T562A;ENSP00000382927:T500A;ENSP00000387608:T349A	ENSP00000331418:T562A	T	+	1	0	PTPRM	8075801	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.271000	0.78506	2.244000	0.73946	0.528000	0.53228	ACC		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8296396	8296396	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8296396G>A	ENST00000332175.8	+	18	3783	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	PTPRM_ENST00000444013.1_Missense_Mutation_p.D703N|PTPRM_ENST00000580170.1_Missense_Mutation_p.D929N|PTPRM_ENST00000400060.4_Missense_Mutation_p.D930N|PTPRM_ENST00000400053.4_Missense_Mutation_p.D854N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	916	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D916N(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCACCATGGGACTCGGCTAA	0.428																																					p.D916N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2746A	18						.						184.0	159.0	167.0					18																	8296396		2203	4300	6503	8286396	SO:0001583	missense	5797	exon18			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2746G>A	18.37:g.8296396G>A	ENSP00000331418:p.Asp916Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8286396	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690755	0.88735	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.046705	0.85682	D	0.000000	T	0.37544	0.1007	L	0.46885	1.475	0.80722	D	1	B;P;P	0.36086	0.388;0.536;0.536	B;B;B	0.40329	0.326;0.217;0.217	T	0.16070	-1.0415	10	0.87932	D	0	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	703;929;916	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	916;930;854;703	ENSP00000331418:D916N;ENSP00000382933:D930N;ENSP00000382927:D854N;ENSP00000387608:D703N	ENSP00000331418:D916N	D	+	1	0	PTPRM	8286396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GAC		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8380349	8380349	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8380349T>C	ENST00000332175.8	+	27	4840	c.3803T>C	c.(3802-3804)gTg>gCg	p.V1268A	PTPRM_ENST00000444013.1_Missense_Mutation_p.V1055A|PTPRM_ENST00000580170.1_Missense_Mutation_p.V1281A|PTPRM_ENST00000400060.4_Missense_Mutation_p.V1282A|PTPRM_ENST00000400053.4_Missense_Mutation_p.V1206A	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1268	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1268A(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCAAACACAGTGAAAGACTTT	0.443																																					p.V1268A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3803C	18						.						107.0	96.0	100.0					18																	8380349		2203	4300	6503	8370349	SO:0001583	missense	5797	exon27			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3803T>C	18.37:g.8380349T>C	ENSP00000331418:p.Val1268Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8370349	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742416	0.89573	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	M	0.69248	2.105	0.80722	D	1	P;D;D	0.63046	0.904;0.992;0.985	P;D;D	0.77004	0.758;0.989;0.981	D	0.90681	0.4605	10	0.41790	T	0.15	.	15.8808	0.79205	0.0:0.0:0.0:1.0	.	1055;1281;1268	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	A	1268;1282;1206;1055	ENSP00000331418:V1268A;ENSP00000382933:V1282A;ENSP00000382927:V1206A;ENSP00000387608:V1055A	ENSP00000331418:V1268A	V	+	2	0	PTPRM	8370349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.158000	0.67659	0.482000	0.46254	GTG		0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
MTCL1	23255	broad.mit.edu	37	18	8720369	8720369	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8720369G>A	ENST00000306329.11	+	3	1312	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	SOGA2_ENST00000359865.3_Missense_Mutation_p.E78K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E78K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E78K|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000306285.7_5'UTR														p.E78K(1)									ATTGCACCACGAACTTAAGAC	0.463																																					p.E78K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	18						.						114.0	99.0	104.0					18																	8720369		2203	4300	6503	8710369	SO:0001583	missense	23255	exon4																														ENST00000306329.11:c.1312G>A	18.37:g.8720369G>A	ENSP00000305027:p.Glu438Lys	Somatic		Capture	Illumina HiSeq	Phase_I	8710369	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	35	5.437336	0.96168	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.72615	-0.67;-0.67;-0.67	5.17	5.17	0.71159	.	0.000000	0.47455	D	0.000232	D	0.86272	0.5893	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87853	0.2659	10	0.62326	D	0.03	-25.5449	19.039	0.92991	0.0:0.0:1.0:0.0	.	78	Q9Y4B5-3	.	K	99;78;78;78	ENSP00000429556:E78K;ENSP00000352927:E78K;ENSP00000382924:E78K	ENSP00000305027:E99K	E	+	1	0	CCDC165	8710369	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	9.813000	0.99286	2.578000	0.87016	0.650000	0.86243	GAA		0.463	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
MTCL1	23255	broad.mit.edu	37	18	8784266	8784266	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8784266G>A	ENST00000306285.7	+	0	1298				SOGA2_ENST00000359865.3_Missense_Mutation_p.D386N|SOGA2_ENST00000306329.11_Missense_Mutation_p.D746N|SOGA2_ENST00000517570.1_Missense_Mutation_p.D386N|SOGA2_ENST00000400050.3_Missense_Mutation_p.D386N														p.D386N(1)									CCGGGACAGCGATGCCGAGAG	0.677																																					p.D386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	18						.						40.0	45.0	43.0					18																	8784266		2201	4299	6500	8774266			23255	exon6																														ENST00000306285.7:c.-900G>A	18.37:g.8784266G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8774266	NM_015210		Missense_Mutation	SNP	ENST00000306285.7	37		.	.	.	.	.	.	.	.	.	.	G	8.828	0.939151	0.18281	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.32272	1.46;1.46;1.46	5.32	5.32	0.75619	.	0.000000	0.51477	D	0.000100	T	0.61110	0.2321	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.64101	-0.6486	10	0.49607	T	0.09	-32.6561	18.9891	0.92784	0.0:0.0:1.0:0.0	.	407;386	A8MQ54;Q9Y4B5-3	.;.	N	407;386;386;386	ENSP00000429556:D386N;ENSP00000352927:D386N;ENSP00000382924:D386N	ENSP00000305027:D407N	D	+	1	0	CCDC165	8774266	1.000000	0.71417	0.512000	0.27736	0.134000	0.20937	9.800000	0.99124	2.491000	0.84063	0.585000	0.79938	GAT		0.677	SOGA2-201	KNOWN	basic	protein_coding	protein_coding			
MTCL1	23255	broad.mit.edu	37	18	8784467	8784467	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:8784467T>C	ENST00000306329.11	+	5	2437	c.2437T>C	c.(2437-2439)Tac>Cac	p.Y813H	SOGA2_ENST00000359865.3_Missense_Mutation_p.Y453H|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y453H|SOGA2_ENST00000400050.3_Missense_Mutation_p.Y453H|SOGA2_ENST00000306285.7_5'UTR														p.Y453H(1)									GGACTCTGAGTACCTAGTGAC	0.647																																					p.Y453H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1357C	18						.						73.0	87.0	82.0					18																	8784467		2203	4300	6503	8774467	SO:0001583	missense	23255	exon6																														ENST00000306329.11:c.2437T>C	18.37:g.8784467T>C	ENSP00000305027:p.Tyr813His	Somatic		Capture	Illumina HiSeq	Phase_I	8774467	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	T	3.631	-0.075575	0.07184	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.29397	1.57;1.57;1.57	5.31	2.94	0.34122	.	0.397225	0.21983	N	0.066275	T	0.13500	0.0327	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	10	0.39692	T	0.17	-6.0121	4.7038	0.12839	0.1392:0.1502:0.0:0.7106	.	474;453	A8MQ54;Q9Y4B5-3	.;.	H	474;453;453;453	ENSP00000429556:Y453H;ENSP00000352927:Y453H;ENSP00000382924:Y453H	ENSP00000305027:Y474H	Y	+	1	0	CCDC165	8774467	0.974000	0.33945	0.998000	0.56505	0.325000	0.28411	1.002000	0.29796	0.351000	0.24027	0.482000	0.46254	TAC		0.647	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
ANKRD12	23253	broad.mit.edu	37	18	9254528	9254528	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9254528C>A	ENST00000262126.4	+	9	1503	c.1263C>A	c.(1261-1263)gtC>gtA	p.V421V	ANKRD12_ENST00000400020.3_Silent_p.V398V|ANKRD12_ENST00000383440.2_Silent_p.V398V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	421						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V421V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CATCTAGGGTCTTATATTCAA	0.323																																					p.V398V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1194A	18						.						70.0	81.0	77.0					18																	9254528		2202	4291	6493	9244528	SO:0001819	synonymous_variant	23253	exon8			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1263C>A	18.37:g.9254528C>A		Somatic		Capture	Illumina HiSeq	Phase_I	9244528	NM_001083625	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9257181	9257181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9257181G>T	ENST00000262126.4	+	9	4156	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1283*|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E1283*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1306						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E1306*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACCTACCATAGAAGTTCGAAG	0.383																																					p.E1283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3847T	18						.						103.0	99.0	101.0					18																	9257181		2203	4300	6503	9247181	SO:0001587	stop_gained	23253	exon8			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3916G>T	18.37:g.9257181G>T	ENSP00000262126:p.Glu1306*	Somatic		Capture	Illumina HiSeq	Phase_I	9247181	NM_001083625	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	42	9.735914	0.99251	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	.	.	.	5.75	5.75	0.90469	.	0.205916	0.41712	D	0.000836	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.187	19.949	0.97192	0.0:0.0:1.0:0.0	.	.	.	.	X	1283;1306	.	ENSP00000262126:E1306X	E	+	1	0	ANKRD12	9247181	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	5.819000	0.69243	2.706000	0.92434	0.655000	0.94253	GAA		0.383	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
TWSG1	57045	broad.mit.edu	37	18	9396361	9396361	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9396361C>A	ENST00000262120.5	+	4	498	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	TWSG1_ENST00000581641.1_Missense_Mutation_p.L103I	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	103					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.I100fs*10(1)|p.L103I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GATCCCTTCTCTCTTCCGGGC	0.448																																					p.L103I												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|large_intestine(1)	c.C307A	18						.						106.0	100.0	102.0					18																	9396361		2203	4300	6503	9386361	SO:0001583	missense	57045	exon4			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.307C>A	18.37:g.9396361C>A	ENSP00000262120:p.Leu103Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9386361	NM_020648	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694353	0.88830	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.83806	0.5334	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.86481	0.1791	9	0.87932	D	0	-25.6182	17.9941	0.89177	0.0:1.0:0.0:0.0	.	103	Q9GZX9	TWSG1_HUMAN	I	103	.	ENSP00000262120:L103I	L	+	1	0	TWSG1	9386361	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.914000	0.69964	2.506000	0.84524	0.561000	0.74099	CTC		0.448	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2		
PPP4R1	9989	broad.mit.edu	37	18	9577098	9577098	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9577098T>G	ENST00000400556.3	-	10	1083	c.1010A>C	c.(1009-1011)aAa>aCa	p.K337T	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K320T|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	337					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.K337T(1)		large_intestine(1)|skin(2)	3						TTCTGAACTTTTGCTTTCTTC	0.328																																					p.K337T	Melanoma(188;1232 2082 5061 11948 35994)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1010C	18						.						85.0	83.0	84.0					18																	9577098		1801	4074	5875	9567098	SO:0001583	missense	9989	exon10			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1010A>C	18.37:g.9577098T>G	ENSP00000383402:p.Lys337Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9567098	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581047	0.28180	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.17691	2.26;2.26	5.24	5.24	0.73138	Armadillo-type fold (1);	0.420470	0.25104	N	0.033101	T	0.12220	0.0297	N	0.20401	0.57	0.38332	D	0.943832	B;B;B	0.16166	0.009;0.006;0.016	B;B;B	0.17979	0.009;0.005;0.02	T	0.16247	-1.0409	9	.	.	.	-28.3718	14.9665	0.71198	0.0:0.0:0.0:1.0	.	320;337;320	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	T	337;320;248	ENSP00000383402:K337T;ENSP00000383401:K320T	.	K	-	2	0	PPP4R1	9567098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.439000	0.44846	2.194000	0.70268	0.528000	0.53228	AAA		0.328	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
PPP4R1	9989	broad.mit.edu	37	18	9588179	9588179	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9588179C>T	ENST00000400556.3	-	6	566	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PPP4R1_ENST00000400555.3_Missense_Mutation_p.E148K|RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	165					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.E165K(1)		large_intestine(1)|skin(2)	3						TCAAATCGTTCAATGAGCTCC	0.453																																					p.E165K	Melanoma(188;1232 2082 5061 11948 35994)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	18						.						66.0	63.0	64.0					18																	9588179		1955	4152	6107	9578179	SO:0001583	missense	9989	exon6			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.493G>A	18.37:g.9588179C>T	ENSP00000383402:p.Glu165Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9578179	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676766	0.47886	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.30981	1.51;1.51	5.13	5.13	0.70059	Armadillo-like helical (1);Armadillo-type fold (1);	0.202605	0.41712	D	0.000830	T	0.34890	0.0913	L	0.55481	1.735	0.45035	D	0.998052	P;B;P	0.37500	0.462;0.325;0.597	B;B;B	0.38985	0.15;0.15;0.287	T	0.05241	-1.0897	9	.	.	.	-27.828	19.128	0.93393	0.0:1.0:0.0:0.0	.	148;165;148	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	K	165;148;76	ENSP00000383402:E165K;ENSP00000383401:E148K	.	E	-	1	0	PPP4R1	9578179	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.696000	0.61774	2.824000	0.97209	0.655000	0.94253	GAA		0.453	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
RAB31	11031	broad.mit.edu	37	18	9814084	9814084	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:9814084A>C	ENST00000578921.1	+	4	510	c.269A>C	c.(268-270)aAg>aCg	p.K90T		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	89					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K90T(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GATATTACCAAGCAGGTAAGA	0.423																																					p.K90T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269C	18						.						119.0	112.0	114.0					18																	9814084		1927	4150	6077	9804084	SO:0001583	missense	11031	exon4			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.269A>C	18.37:g.9814084A>C	ENSP00000461945:p.Lys90Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9804084	NM_006868	B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	ENST00000578921.1	37	CCDS45826.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949654	0.73787	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.50919	1.6	0.80722	D	1	P	0.42649	0.786	P	0.51777	0.679	T	0.61893	-0.6969	8	.	.	.	-5.9408	15.103	0.72296	1.0:0.0:0.0:0.0	.	89	Q13636	RAB31_HUMAN	T	90;81	.	.	K	+	2	0	RAB31	9804084	1.000000	0.71417	0.993000	0.49108	0.504000	0.33889	8.423000	0.90264	2.205000	0.71048	0.533000	0.62120	AAG		0.423	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442280.3		
NAPG	8774	broad.mit.edu	37	18	10546407	10546407	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:10546407C>A	ENST00000322897.6	+	9	654				NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.?(1)		large_intestine(2)|lung(2)	4						ATAAGGTATTCTTTGAAAGTG	0.279																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						40.0	36.0	37.0					18																	10546407		1762	4043	5805	10536407	SO:0001627	intron_variant	8774	.			U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.585+6C>A	18.37:g.10546407C>A		Somatic		Capture	Illumina HiSeq	Phase_I	10536407	.	B4DFC9|Q9BUV1	Intron	SNP	ENST00000322897.6	37	CCDS45827.1																																																																																				0.279	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826	
C18orf8	29919	broad.mit.edu	37	18	21089249	21089249	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21089249A>C	ENST00000269221.3	+	5	518				C18orf8_ENST00000590868.1_Intron	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8							lysosomal membrane (GO:0005765)		p.?(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCAGGTATTATGTTTATCAT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						62.0	61.0	61.0					18																	21089249		2203	4296	6499	19343247	SO:0001627	intron_variant	29919	.			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.408+6A>C	18.37:g.21089249A>C		Somatic		Capture	Illumina HiSeq	Phase_I	19343247	.	Q9BU17|Q9Y5M0	Intron	SNP	ENST00000269221.3	37	CCDS32803.1																																																																																				0.303	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
C18orf8	29919	broad.mit.edu	37	18	21099022	21099022	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21099022C>A	ENST00000269221.3	+	9	853				C18orf8_ENST00000590868.1_Intron	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8							lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTTTGCTTTCTATCCTACAG	0.418																																					.												.	.	0			.	18						.						135.0	131.0	132.0					18																	21099022		2203	4300	6503	19353020	SO:0001627	intron_variant	29919	.			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.744-11C>A	18.37:g.21099022C>A		Somatic		Capture	Illumina HiSeq	Phase_I	19353020	.	Q9BU17|Q9Y5M0	Intron	SNP	ENST00000269221.3	37	CCDS32803.1																																																																																				0.418	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
LAMA3	3909	broad.mit.edu	37	18	21419902	21419902	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21419902C>T	ENST00000313654.9	+	27	3577				LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGTAGTGTGCTGTTTCTAAA	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						68.0	67.0	68.0					18																	21419902		2002	4174	6176	19673900	SO:0001627	intron_variant	3909	.			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3336+9C>T	18.37:g.21419902C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19673900	.	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Intron	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.507	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21451385	21451385	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:21451385C>T	ENST00000313654.9	+	38	5008				LAMA3_ENST00000587184.1_5'Flank|LAMA3_ENST00000269217.6_5'Flank|LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTTTCTGTTTCCATGTGTAGG	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						45.0	46.0	45.0					18																	21451385		1973	4159	6132	19705383	SO:0001627	intron_variant	3909	.			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4768-10C>T	18.37:g.21451385C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19705383	.	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Intron	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.507	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
SLC25A52	147407	broad.mit.edu	37	18	29340634	29340634	+	5'Flank	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29340634G>T	ENST00000579441.2	-	0	0				SLC25A52_ENST00000269205.5_Silent_p.I7I			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52						transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.I7I(1)									TGTTGCTTAAGATCTTTCTCA	0.368																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	18						.						79.0	77.0	78.0					18																	29340634		2201	4288	6489	27594632	SO:0001631	upstream_gene_variant	147407	.				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617		18.37:g.29340634G>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	27594632	.		5'UTR	SNP	ENST00000579441.2	37																																																																																					0.368	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000	
TRAPPC8	22878	broad.mit.edu	37	18	29450466	29450466	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:29450466C>A	ENST00000283351.4	-	16	2593		c.e16-1		TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAATTGGTTCTATTAAAAAA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						46.0	48.0	47.0					18																	29450466		2202	4297	6499	27704464	SO:0001630	splice_region_variant	22878	.			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2258-1G>T	18.37:g.29450466C>A		Somatic		Capture	Illumina HiSeq	Phase_I	27704464	.	A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.528973	0.64860	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27704464	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	7.201000	0.77847	2.788000	0.95919	0.585000	0.79938	.		0.333	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron
ZNF397	84307	broad.mit.edu	37	18	32822433	32822433	+	5'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:32822433G>A	ENST00000330501.7	+	0	152				ZNF397_ENST00000355632.4_5'UTR|ZNF397_ENST00000585800.1_5'UTR|ZNF397_ENST00000592264.1_5'UTR|ZNF397_ENST00000261333.6_5'UTR|ZNF397_ENST00000591206.1_5'UTR|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						TTTCAGCCAAGAATGGCTGTG	0.418																																					.												.	.	0			.	18						.						56.0	57.0	56.0					18																	32822433		2203	4300	6503	31076431	SO:0001623	5_prime_UTR_variant	84307	.			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.-2G>A	18.37:g.32822433G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31076431	.	Q9BRM2	5'UTR	SNP	ENST00000330501.7	37	CCDS45852.1																																																																																				0.418	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347	
MOCOS	55034	broad.mit.edu	37	18	33793325	33793325	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:33793325G>A	ENST00000261326.5	+	7	1239					NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.?(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATTAAATCCGCAGGTGGACA	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						70.0	62.0	65.0					18																	33793325		2203	4300	6503	32047323	SO:0001627	intron_variant	55034	.			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1219-4G>A	18.37:g.33793325G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32047323	.		Intron	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																				0.458	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
PIK3C3	5289	broad.mit.edu	37	18	39600595	39600595	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:39600595C>A	ENST00000262039.4	+	13	1502				PIK3C3_ENST00000398870.3_Intron	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3						autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.?(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TCTTTTAATTCTTTCAGCAAG	0.284										TSP Lung(28;0.18)																											.	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Unknown(1)	large_intestine(1)	.	18						.						37.0	39.0	38.0					18																	39600595		2203	4275	6478	37854593	SO:0001627	intron_variant	5289	.			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1417-7C>A	18.37:g.39600595C>A		Somatic		Capture	Illumina HiSeq	Phase_I	37854593	.	Q15134	Intron	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																				0.284	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
ATP5A1	498	broad.mit.edu	37	18	43668065	43668065	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:43668065C>A	ENST00000398752.6	-	6	921				ATP5A1_ENST00000593152.2_Intron|ATP5A1_ENST00000590665.1_Intron|ATP5A1_ENST00000282050.2_Intron	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACTAAATTTCTTTTAATACC	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						88.0	91.0	90.0					18																	43668065		2203	4300	6503	41922063	SO:0001627	intron_variant	498	.			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.799+9G>T	18.37:g.43668065C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41922063	.	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Intron	SNP	ENST00000398752.6	37	CCDS11927.1																																																																																				0.363	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
RPL17	6139	broad.mit.edu	37	18	47018050	47018050	+	5'UTR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:47018050T>G	ENST00000418495.1	-	0	232				RPL17_ENST00000580261.1_Intron|SNORD58B_ENST00000607313.1_RNA|RPL17_ENST00000581091.1_5'Flank|SNORD58A_ENST00000383875.1_RNA|RPL17_ENST00000579408.1_5'UTR|RPL17_ENST00000581373.1_Intron|RPL17_ENST00000580210.1_5'UTR|SNORD58C_ENST00000365223.1_RNA|RPL17-C18orf32_ENST00000584895.1_5'Flank|RPL17-C18orf32_ENST00000332968.6_5'Flank|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579248.1_Intron	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						CAGAGAGTAGTTGTTTTCATT	0.393																																					.												.	.	0			.	18						.						112.0	102.0	105.0					18																	47018050		876	1991	2867	45272048	SO:0001623	5_prime_UTR_variant	6139	.			AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"""L ribosomal proteins"""	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.-109A>C	18.37:g.47018050T>G		Somatic		Capture	Illumina HiSeq	Phase_I	45272048	.	B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	5'UTR	SNP	ENST00000418495.1	37	CCDS45865.1																																																																																				0.393	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447589.2	NM_000985	
DCC	1630	broad.mit.edu	37	18	50848532	50848532	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:50848532G>T	ENST00000442544.2	+	14	2780				DCC_ENST00000412726.1_Intron|DCC_ENST00000581580.1_Intron	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGATGGTAAGACTTTTTCCC	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						96.0	81.0	86.0					18																	50848532		2203	4300	6503	49102530	SO:0001627	intron_variant	1630	.			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2164+5G>T	18.37:g.50848532G>T		Somatic		Capture	Illumina HiSeq	Phase_I	49102530	.		Intron	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.413	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DCC	1630	broad.mit.edu	37	18	50985838	50985838	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:50985838T>A	ENST00000442544.2	+	24	4235				DCC_ENST00000581580.1_Intron	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTAATTATCTTTTCACTGGC	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						92.0	91.0	91.0					18																	50985838		2203	4300	6503	49239836	SO:0001627	intron_variant	1630	.			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3619+10T>A	18.37:g.50985838T>A		Somatic		Capture	Illumina HiSeq	Phase_I	49239836	.		Intron	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
NEDD4L	23327	broad.mit.edu	37	18	56018287	56018287	+	Intron	SNP	C	C	T	rs200176042		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56018287C>T	ENST00000400345.3	+	18	1991				NEDD4L_ENST00000382850.4_Intron|NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000431212.2_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000456173.2_Intron|NEDD4L_ENST00000357895.5_Intron|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456986.1_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000435432.2_Intron|NEDD4L_ENST00000586263.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGTAAGTAGGCGCTGTTATGG	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.	C	,,,,,,,,	1,3753		0,1,1876	95.0	84.0	88.0		,,,,,,,,	2.6	0.0	18		88	0,8192		0,0,4096	no	intron,intron,intron,intron,intron,intron,intron,intron,intron	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_015277.5	,,,,,,,,	0,1,5972	TT,TC,CC		0.0,0.0266,0.0084	,,,,,,,,	,,,,,,,,	56018287	1,11945	1877	4096	5973	54169267	SO:0001627	intron_variant	23327	.			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1708+10C>T	18.37:g.56018287C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54169267	.	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Intron	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																				0.428	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
SEC11C	90701	broad.mit.edu	37	18	56825923	56825923	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:56825923G>T	ENST00000587834.1	+	0	1057				SEC11C_ENST00000588875.1_3'UTR	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				CCTAAAATGAGAAGCAGTTCC	0.358																																					.												.	.	0			.	18						.						149.0	136.0	141.0					18																	56825923		2203	4300	6503	54976903	SO:0001624	3_prime_UTR_variant	90701	.			AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.*6G>T	18.37:g.56825923G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54976903	.	B2RAA3	3'UTR	SNP	ENST00000587834.1	37	CCDS11970.1																																																																																				0.358	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280	
CDH20	28316	broad.mit.edu	37	18	59217463	59217463	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:59217463G>A	ENST00000262717.4	+	11	2298		c.e11+1		CDH20_ENST00000538374.1_Splice_Site|CDH20_ENST00000536675.2_Splice_Site			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTCCTCTTAGGTGAGTAAGGG	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						62.0	56.0	58.0					18																	59217463		2201	4297	6498	57368443	SO:0001630	splice_region_variant	28316	.			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1900+1G>A	18.37:g.59217463G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57368443	.	Q495S3	Splice_Site	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018448	0.93404	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0411	0.97590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH20	57368443	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.820000	0.99359	2.739000	0.93911	0.655000	0.94253	.		0.557	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	Intron
RTTN	25914	broad.mit.edu	37	18	67836084	67836084	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:67836084T>G	ENST00000255674.6	-	12	1976				RTTN_ENST00000454359.1_Intron|RTTN_ENST00000437017.1_Intron	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin						determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTAAAAAAGCTTTTTACCTCT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						63.0	64.0	64.0					18																	67836084		1790	4061	5851	65987064	SO:0001627	intron_variant	25914	.			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1689+6A>C	18.37:g.67836084T>G		Somatic		Capture	Illumina HiSeq	Phase_I	65987064	.	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Intron	SNP	ENST00000255674.6	37	CCDS42443.1																																																																																				0.303	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
FBXO15	201456	broad.mit.edu	37	18	71790600	71790600	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:71790600C>A	ENST00000419743.2	-	8	1218				FBXO15_ENST00000269500.5_Intron	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15							SCF ubiquitin ligase complex (GO:0019005)		p.?(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAATCAATTTCACCTCTCTTG	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						63.0	66.0	65.0					18																	71790600		2203	4300	6503	69941580	SO:0001627	intron_variant	201456	.			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1138+2G>T	18.37:g.71790600C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69941580	.	B3KST3	Intron	SNP	ENST00000419743.2	37	CCDS45884.1																																																																																				0.418	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
SMIM21	284274	broad.mit.edu	37	18	73130730	73130730	+	Intron	SNP	C	C	A	rs147837383	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:73130730C>A	ENST00000579022.1	-	2	400				SMIM21_ENST00000584508.1_Intron|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21							integral component of membrane (GO:0016021)											ctaaggttatcgtttacctac	0.348																																					.												.	.	0			.	18						.						100.0	98.0	99.0					18																	73130730		2203	4300	6503	71259718	SO:0001627	intron_variant	284274	.				CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.260+10G>T	18.37:g.73130730C>A		Somatic		Capture	Illumina HiSeq	Phase_I	71259718	.		Intron	SNP	ENST00000579022.1	37	CCDS32845.1																																																																																				0.348	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331	
MBP	4155	broad.mit.edu	37	18	74700831	74700831	+	Splice_Site	SNP	A	A	G	rs112045125		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:74700831A>G	ENST00000397869.3	-	3	365		c.e3+1		MBP_ENST00000397875.3_Splice_Site|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Splice_Site|MBP_ENST00000580402.1_Splice_Site|MBP_ENST00000354542.4_Intron|MBP_ENST00000355994.2_Splice_Site|MBP_ENST00000359645.3_Splice_Site|MBP_ENST00000528160.1_Intron|MBP_ENST00000397865.5_Splice_Site|MBP_ENST00000382582.3_Splice_Site|MBP_ENST00000579129.1_Splice_Site|MBP_ENST00000397866.4_Splice_Site|MBP_ENST00000578193.1_Splice_Site			P13727	PRG2_HUMAN	myelin basic protein						defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CCAAGGTCTTACCTTTCCCTG	0.512																																					.	NSCLC(17;72 1131 19392)											.	.	1	Unknown(1)	large_intestine(1)	.	18						.						132.0	140.0	138.0					18																	74700831		2203	4300	6503	72829819	SO:0001630	splice_region_variant	4155	.				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.318+1T>C	18.37:g.74700831A>G		Somatic		Capture	Illumina HiSeq	Phase_I	72829819	.	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Splice_Site	SNP	ENST00000397869.3	37		.	.	.	.	.	.	.	.	.	.	A	12.07	1.827651	0.32329	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4118	0.49929	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MBP	72829819	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	4.803000	0.62546	1.832000	0.53329	0.482000	0.46254	.		0.512	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081	Intron
CTDP1	9150	broad.mit.edu	37	18	77470336	77470336	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:77470336C>A	ENST00000299543.7	+	6	919				CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1						exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTCCTGTTTTCTTTTCCAAGG	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						162.0	176.0	171.0					18																	77470336		2203	4300	6503	75571324	SO:0001627	intron_variant	9150	.			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.773-10C>A	18.37:g.77470336C>A		Somatic		Capture	Illumina HiSeq	Phase_I	75571324	.	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Intron	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.398	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
ADNP2	22850	broad.mit.edu	37	18	77894214	77894214	+	Silent	SNP	A	A	T	rs76703674		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr18:77894214A>T	ENST00000262198.4	+	4	1373	c.918A>T	c.(916-918)ggA>ggT	p.G306G		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	306	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G306G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGCCGCAGGACAGCCAGTGA	0.617																																					p.G306G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A918T	18						.						64.0	69.0	67.0					18																	77894214		2203	4300	6503	75995205	SO:0001819	synonymous_variant	22850	exon4			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.918A>T	18.37:g.77894214A>T		Somatic		Capture	Illumina HiSeq	Phase_I	75995205	NM_014913	A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	CCDS32853.1																																																																																				0.617	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
ZNF600	162966	broad.mit.edu	37	19	53270814	53270815	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53270814_53270815insT	ENST00000338230.3	-	3	461_462	c.194_195insA	c.(193-195)aagfs	p.K65fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	65					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)	p.L66fs*4(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TACCAGTCAACTTTTTTATTTT	0.386																																					p.K65fs	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.195_196insA	19						.																																			57962627	SO:0001589	frameshift_variant	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.195dupA	19.37:g.53270820_53270820dupT	ENSP00000344791:p.Lys65fs	Somatic		Capture	Illumina HiSeq	Phase_I	57962626	NM_198457	Q6MZR0	Frame_Shift_Ins	INS	ENST00000338230.3	37	CCDS12856.1																																																																																				0.386	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
OR7A10	390892	broad.mit.edu	37	19	14952379	14952379	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14952379delA	ENST00000248058.1	-	1	310	c.311delT	c.(310-312)ttcfs	p.F104fs		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F104fs*5(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAAGAGTAAGAAAAAGCACAT	0.468																																					p.F104fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.311delT	19						.						118.0	101.0	107.0					19																	14952379		2203	4300	6503	14813379	SO:0001589	frameshift_variant	390892	exon1				CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.311delT	19.37:g.14952379delA	ENSP00000248058:p.Phe104fs	Somatic		Capture	Illumina HiSeq	Phase_I	14813379	NM_001005190	Q6IFP0|Q96R97	Frame_Shift_Del	DEL	ENST00000248058.1	37	CCDS32936.1																																																																																				0.468	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190	
ABCA7	10347	broad.mit.edu	37	19	1058663	1058663	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:1058663G>T	ENST00000263094.6	+	38	5427	c.5196G>T	c.(5194-5196)aaG>aaT	p.K1732N	ABCA7_ENST00000433129.1_Missense_Mutation_p.K1732N|ABCA7_ENST00000435683.2_Missense_Mutation_p.K1594N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1732					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.K1732N(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCGGCAAGAACCTCTTGG	0.567																																					p.K1732N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5196T	19						.						81.0	82.0	82.0					19																	1058663		2203	4300	6503	1009663	SO:0001583	missense	10347	exon38			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5196G>T	19.37:g.1058663G>T	ENSP00000263094:p.Lys1732Asn	Somatic		Capture	Illumina HiSeq	Phase_I	1009663	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231364|4.231364	0.79688|0.79688	.|.	.|.	ENSG00000064687|ENSG00000064687	ENST00000525073|ENST00000263094;ENST00000433129	.|D;D	.|0.87334	.|-2.24;-2.24	4.23|4.23	3.19|3.19	0.36642|0.36642	.|.	.|.	.|.	.|.	.|.	.|D	.|0.92163	.|0.7515	M|M	0.79011|0.79011	2.435|2.435	0.42430|0.42430	D|D	0.992672|0.992672	.|D;P	.|0.76494	.|0.999;0.872	.|D;P	.|0.81914	.|0.995;0.81	.|D	.|0.92179	.|0.5750	.|9	.|0.72032	.|D	.|0.01	.|.	10.8673|10.8673	0.46862|0.46862	0.0948:0.0:0.9052:0.0|0.0948:0.0:0.9052:0.0	.|.	.|857;1732	.|D6W5Y0;Q8IZY2	.|.;ABCA7_HUMAN	X|N	164|1732	.|ENSP00000263094:K1732N;ENSP00000414062:K1732N	.|ENSP00000263094:K1732N	E|K	+|+	1|3	0|2	ABCA7|ABCA7	1009663|1009663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.171000|6.171000	0.71926|0.71926	0.993000|0.993000	0.38866|0.38866	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.567	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
DNMT1	1786	broad.mit.edu	37	19	10250770	10250770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:10250770G>A	ENST00000340748.4	-	32	3945	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1253L|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1237L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1237	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1237L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTAGGTGCGCGAATTGAAGCG	0.642																																					p.S1237L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3710T	19						.						47.0	47.0	47.0					19																	10250770		2203	4300	6503	10111770	SO:0001583	missense	1786	exon32			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3710C>T	19.37:g.10250770G>A	ENSP00000345739:p.Ser1237Leu	Somatic		Capture	Illumina HiSeq	Phase_I	10111770	NM_001379	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821236	0.71028	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84223	-1.82;-1.82;-1.82	5.4	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	L	0.33710	1.025	0.80722	D	1	P;P;D	0.53619	0.914;0.917;0.961	B;B;P	0.50617	0.414;0.274;0.646	D	0.83841	0.0257	10	0.54805	T	0.06	.	12.9164	0.58209	0.0801:0.0:0.9199:0.0	.	1237;1253;1237	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	1253;1237;1237;1105	ENSP00000352516:S1253L;ENSP00000440457:S1237L;ENSP00000345739:S1237L	ENSP00000345739:S1237L	S	-	2	0	DNMT1	10111770	1.000000	0.71417	0.845000	0.33349	0.326000	0.28443	9.569000	0.98170	1.290000	0.44636	0.650000	0.86243	TCG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ILF3	3609	broad.mit.edu	37	19	10781702	10781702	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:10781702C>A	ENST00000590261.1	+	2	56	c.56C>A	c.(55-57)tCt>tAt	p.S19Y	ILF3_ENST00000407004.3_Missense_Mutation_p.S19Y|ILF3_ENST00000589998.1_Missense_Mutation_p.S19Y|ILF3_ENST00000449870.1_Missense_Mutation_p.S19Y|ILF3_ENST00000250241.8_Missense_Mutation_p.S19Y|ILF3_ENST00000420083.1_Missense_Mutation_p.S19Y|ILF3_ENST00000588657.1_Missense_Mutation_p.S19Y|ILF3_ENST00000318511.3_Missense_Mutation_p.S19Y|ILF3_ENST00000592763.1_Missense_Mutation_p.S19Y			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	19	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S19Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCAAAGCATTCTTCCGTTTAT	0.488																																					p.S19Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56A	19						.						63.0	57.0	59.0					19																	10781702		2203	4300	6503	10642702	SO:0001583	missense	3609	exon3			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.56C>A	19.37:g.10781702C>A	ENSP00000468156:p.Ser19Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	10642702	NM_153464	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627407	0.87560	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.35	4.32	0.51571	.	0.061049	0.64402	D	0.000002	T	0.60881	0.2303	M	0.82823	2.61	0.58432	D	0.999998	D;D;D;P;D	0.76494	0.985;0.974;0.963;0.942;0.999	P;P;P;P;D	0.68943	0.706;0.512;0.783;0.458;0.961	T	0.68085	-0.5502	10	0.87932	D	0	.	13.243	0.60008	0.0:0.9226:0.0:0.0774	.	19;19;19;19;19	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	Y	19	ENSP00000404121:S19Y;ENSP00000315205:S19Y;ENSP00000405436:S19Y;ENSP00000384660:S19Y;ENSP00000250241:S19Y	ENSP00000250241:S19Y	S	+	2	0	ILF3	10642702	1.000000	0.71417	0.993000	0.49108	0.924000	0.55760	7.466000	0.80914	1.633000	0.50488	0.655000	0.94253	TCT		0.488	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
DNM2	1785	broad.mit.edu	37	19	10912967	10912967	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:10912967C>A	ENST00000355667.6	+	12	1506	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	DNM2_ENST00000585892.1_Missense_Mutation_p.L476I|DNM2_ENST00000408974.4_Missense_Mutation_p.L476I|DNM2_ENST00000389253.4_Missense_Mutation_p.L476I|DNM2_ENST00000359692.6_Missense_Mutation_p.L476I|DNM2_ENST00000314646.5_Missense_Mutation_p.L476I	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.L476I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCCCAGATTCTTCTGCTGAT	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																p.L476I			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1426A	19						.						102.0	87.0	92.0					19																	10912967		2203	4300	6503	10773967	SO:0001583	missense	1785	exon12				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1426C>A	19.37:g.10912967C>A	ENSP00000347890:p.Leu476Ile	Somatic		Capture	Illumina HiSeq	Phase_I	10773967	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974595	0.34848	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	4.93	4.93	0.64822	Dynamin central domain (1);Pleckstrin homology-type (1);	0.065062	0.64402	D	0.000007	T	0.72179	0.3428	L	0.28054	0.825	0.54753	D	0.99998	P;P;B;P;B;P	0.50369	0.934;0.871;0.129;0.458;0.202;0.482	P;P;B;B;B;B	0.57620	0.824;0.642;0.091;0.359;0.139;0.207	T	0.72218	-0.4357	10	0.37606	T	0.19	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	70;209;476;476;476;476	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	I	465;476;476;476;476;476	ENSP00000386192:L476I;ENSP00000347890:L476I;ENSP00000352721:L476I;ENSP00000373905:L476I;ENSP00000313164:L476I	ENSP00000313164:L476I	L	+	1	0	DNM2	10773967	0.976000	0.34144	0.998000	0.56505	0.368000	0.29767	1.511000	0.35801	2.283000	0.76528	0.462000	0.41574	CTT		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
SMARCA4	6597	broad.mit.edu	37	19	11100016	11100016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11100016G>A	ENST00000429416.3	+	8	1423	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	SMARCA4_ENST00000358026.2_Missense_Mutation_p.R381Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R381Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R381Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R381Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R381Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R381Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R381Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R381Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	381					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R381Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCGCACACCGAATTCAGGAA	0.607			"""F, N, Mis"""		NSCLC																																p.R381Q			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	3	Substitution - Missense(2)|Unknown(1)	large_intestine(2)|lung(1)	c.G1142A	19						.						88.0	90.0	89.0					19																	11100016		2203	4300	6503	10961016	SO:0001583	missense	6597	exon7			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1142G>A	19.37:g.11100016G>A	ENSP00000395654:p.Arg381Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10961016	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306031	0.95629	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.09;-3.08;-3.08;-3.09	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000001	D	0.96153	0.8746	M	0.85542	2.76	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997;0.999;0.999	D	0.96891	0.9653	10	0.87932	D	0	-8.8962	15.4489	0.75257	0.0:0.0:1.0:0.0	.	381;381;381;381;381;381;381	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	381	ENSP00000395654:R381Q;ENSP00000350720:R381Q;ENSP00000343896:R381Q;ENSP00000445036:R381Q;ENSP00000392837:R381Q;ENSP00000397783:R381Q;ENSP00000414727:R381Q	ENSP00000343896:R381Q	R	+	2	0	SMARCA4	10961016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.188000	0.69820	0.462000	0.41574	CGA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
CCDC159	126075	broad.mit.edu	37	19	11464144	11464144	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11464144G>A	ENST00000588790.1	+	10	1032	c.585G>A	c.(583-585)aaG>aaA	p.K195K	DKFZP761J1410_ENST00000251473.5_5'Flank|CCDC159_ENST00000458408.1_Silent_p.K195K|DKFZP761J1410_ENST00000591608.1_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	310								p.K195K(1)|p.K310K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCAAGATGAAGCAGCAGGGTC	0.547																																					p.K195K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G585A	19						.						20.0	22.0	21.0					19																	11464144		1969	4177	6146	11325144	SO:0001819	synonymous_variant	126075	exon8			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.585G>A	19.37:g.11464144G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11325144	NM_001080503	B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	CCDS45976.1																																																																																				0.547	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503	
CCDC151	115948	broad.mit.edu	37	19	11541756	11541756	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11541756G>T	ENST00000356392.4	-	2	416	c.329C>A	c.(328-330)aCt>aAt	p.T110N	CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Missense_Mutation_p.T110N|CCDC151_ENST00000545100.1_Missense_Mutation_p.T56N	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	110								p.T110N(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGTGCCTTAGTCTCCTTGCG	0.562																																					p.T110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329A	19						.						138.0	141.0	140.0					19																	11541756		1979	4147	6126	11402756	SO:0001583	missense	115948	exon2				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.329C>A	19.37:g.11541756G>T	ENSP00000348757:p.Thr110Asn	Somatic		Capture	Illumina HiSeq	Phase_I	11402756	NM_145045	B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	G	5.114	0.206630	0.09704	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.10382	2.88;3.32	4.88	-9.75	0.00506	.	0.349378	0.30593	N	0.009289	T	0.02970	0.0088	N	0.12637	0.245	0.30409	N	0.779217	B;B;B	0.16603	0.007;0.018;0.004	B;B;B	0.12156	0.005;0.007;0.007	T	0.34775	-0.9815	10	0.10902	T	0.67	-1.5573	6.3451	0.21345	0.4477:0.0:0.1483:0.404	.	110;110;90	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	N	56;110;89	ENSP00000442987:T56N;ENSP00000348757:T110N	ENSP00000348757:T110N	T	-	2	0	CCDC151	11402756	0.978000	0.34361	0.018000	0.16275	0.392000	0.30506	-0.025000	0.12413	-1.684000	0.01443	-0.500000	0.04577	ACT		0.562	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045	
ZNF441	126068	broad.mit.edu	37	19	11891817	11891817	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11891817A>C	ENST00000357901.4	+	4	1280	c.1178A>C	c.(1177-1179)aAa>aCa	p.K393T	ZNF441_ENST00000454339.2_Missense_Mutation_p.K326T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K393T(1)|p.K326T(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACCCTATAAATGTGAATGT	0.388																																					p.K393T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1178C	19						.						61.0	62.0	62.0					19																	11891817		2203	4300	6503	11752817	SO:0001583	missense	126068	exon4			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1178A>C	19.37:g.11891817A>C	ENSP00000350576:p.Lys393Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11752817	NM_152355		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	16.24	3.068632	0.55539	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.18810	2.19;2.19	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.18635	0.0447	L	0.60845	1.875	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.22521	-1.0214	9	0.38643	T	0.18	.	5.1049	0.14779	0.6962:0.3037:0.0:0.0	.	393	Q8N8Z8	ZN441_HUMAN	T	349;393;326	ENSP00000350576:K393T;ENSP00000403738:K326T	ENSP00000350576:K393T	K	+	2	0	ZNF441	11752817	0.000000	0.05858	0.801000	0.32222	0.967000	0.64934	-0.435000	0.06931	0.740000	0.32651	0.248000	0.18094	AAA		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF491	126069	broad.mit.edu	37	19	11917053	11917053	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11917053G>A	ENST00000323169.5	+	3	616	c.285G>A	c.(283-285)agG>agA	p.R95R	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R95R(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACATGAAAGGCCTCACACTA	0.393																																					p.R95R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G285A	19						.						53.0	54.0	54.0					19																	11917053		2199	4300	6499	11778053	SO:0001819	synonymous_variant	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.285G>A	19.37:g.11917053G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11778053	NM_152356	Q3MJ35|Q8NAT8	Silent	SNP	ENST00000323169.5	37	CCDS12267.1																																																																																				0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF491	126069	broad.mit.edu	37	19	11917722	11917722	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11917722A>C	ENST00000323169.5	+	3	1285	c.954A>C	c.(952-954)gaA>gaC	p.E318D	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E318D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AATATCATGAAAGGACTCACA	0.448																																					p.E318D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A954C	19						.						51.0	52.0	52.0					19																	11917722		2203	4300	6503	11778722	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.954A>C	19.37:g.11917722A>C	ENSP00000313443:p.Glu318Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11778722	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	14.42	2.529492	0.44969	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.18502	2.21	0.782	0.782	0.18567	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27697	0.0681	M	0.81802	2.56	0.21950	N	0.999453	P	0.41008	0.735	P	0.48704	0.587	T	0.20840	-1.0263	9	0.87932	D	0	.	3.4988	0.07665	0.492:0.0:0.508:0.0	.	318	Q8N8L2	ZN491_HUMAN	D	318;290	ENSP00000313443:E318D	ENSP00000313443:E318D	E	+	3	2	ZNF491	11778722	0.000000	0.05858	0.283000	0.24790	0.119000	0.20118	-0.302000	0.08221	0.607000	0.29982	0.352000	0.21897	GAA		0.448	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF440	126070	broad.mit.edu	37	19	11943731	11943731	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11943731G>T	ENST00000304060.5	+	4	1904	c.1740G>T	c.(1738-1740)tcG>tcT	p.S580S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S580S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACCCTTCGGATCTGCCCA	0.453																																					p.S580S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1740T	19						.						63.0	62.0	62.0					19																	11943731		2187	4289	6476	11804731	SO:0001819	synonymous_variant	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1740G>T	19.37:g.11943731G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11804731	NM_152357	Q8N1R9	Silent	SNP	ENST00000304060.5	37	CCDS42503.1																																																																																				0.453	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF439	90594	broad.mit.edu	37	19	11978601	11978601	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11978601G>T	ENST00000304030.2	+	3	917	c.717G>T	c.(715-717)gaG>gaT	p.E239D	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.E103D	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E239D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACACTGGAGAGAAACCGTATG	0.368																																					p.E239D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G717T	19						.						86.0	85.0	85.0					19																	11978601		2203	4300	6503	11839601	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.717G>T	19.37:g.11978601G>T	ENSP00000305077:p.Glu239Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11839601	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.368691	0.42003	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.26810	1.71;1.71	0.575	-1.0	0.10196	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	L	0.46670	1.46	0.27193	N	0.960361	P	0.46987	0.888	P	0.55871	0.786	T	0.21075	-1.0256	9	0.66056	D	0.02	.	3.5981	0.08014	0.2094:0.2546:0.536:0.0	.	239	Q8NDP4	ZN439_HUMAN	D	103;239	ENSP00000395632:E103D;ENSP00000305077:E239D	ENSP00000305077:E239D	E	+	3	2	ZNF439	11839601	0.971000	0.33674	0.052000	0.19188	0.293000	0.27360	0.303000	0.19210	-0.341000	0.08376	0.194000	0.17425	GAG		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11978669	11978669	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11978669G>T	ENST00000304030.2	+	3	985	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R126I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R262I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATACATGAAAGAACTCACATT	0.398																																					p.R262I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G785T	19						.						75.0	75.0	75.0					19																	11978669		2203	4300	6503	11839669	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.785G>T	19.37:g.11978669G>T	ENSP00000305077:p.Arg262Ile	Somatic		Capture	Illumina HiSeq	Phase_I	11839669	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	12.38	1.920213	0.33908	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.24908	1.83;1.83	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39572	0.1083	M	0.63428	1.95	0.36993	D	0.894892	D	0.89917	1.0	D	0.87578	0.998	T	0.42949	-0.9421	9	0.48119	T	0.1	.	4.4707	0.11712	0.2512:0.0:0.7487:0.0	.	262	Q8NDP4	ZN439_HUMAN	I	126;262	ENSP00000395632:R126I;ENSP00000305077:R262I	ENSP00000305077:R262I	R	+	2	0	ZNF439	11839669	0.000000	0.05858	0.206000	0.23566	0.142000	0.21351	-2.386000	0.01061	0.623000	0.30267	0.306000	0.20318	AGA		0.398	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11979154	11979154	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11979154A>C	ENST00000304030.2	+	3	1470	c.1270A>C	c.(1270-1272)Aat>Cat	p.N424H	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.N288H	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N424H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCTGCCCCAAATCTTCAATT	0.458																																					p.N424H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1270C	19						.						71.0	66.0	68.0					19																	11979154		2203	4300	6503	11840154	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1270A>C	19.37:g.11979154A>C	ENSP00000305077:p.Asn424His	Somatic		Capture	Illumina HiSeq	Phase_I	11840154	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.801623	0.00004	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.03860	3.78;3.78	0.575	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43718	-0.9374	9	0.13470	T	0.59	.	5.3115	0.15833	0.2898:0.5375:0.1727:0.0	.	424	Q8NDP4	ZN439_HUMAN	H	288;424	ENSP00000395632:N288H;ENSP00000305077:N424H	ENSP00000305077:N424H	N	+	1	0	ZNF439	11840154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-12.273000	0.00002	-3.889000	0.00094	-3.260000	0.00049	AAT		0.458	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF700	90592	broad.mit.edu	37	19	12059282	12059282	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12059282A>G	ENST00000254321.5	+	4	586	c.443A>G	c.(442-444)gAc>gGc	p.D148G	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.D130G	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D148G(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATCAGAGGTGACACTGGACAC	0.408																																					p.D148G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A443G	19						.						180.0	175.0	177.0					19																	12059282		2203	4300	6503	11920282	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.443A>G	19.37:g.12059282A>G	ENSP00000254321:p.Asp148Gly	Somatic		Capture	Illumina HiSeq	Phase_I	11920282	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	13.35	2.210469	0.39102	.	.	ENSG00000196757	ENST00000254321	T	0.06528	3.29	0.672	0.672	0.17935	.	.	.	.	.	T	0.11623	0.0283	L	0.34521	1.04	0.24886	N	0.992192	D	0.89917	1.0	D	0.71656	0.974	T	0.22556	-1.0213	9	0.49607	T	0.09	.	5.5733	0.17208	1.0:0.0:0.0:0.0	.	148	Q9H0M5	ZN700_HUMAN	G	148	ENSP00000254321:D148G	ENSP00000254321:D148G	D	+	2	0	ZNF700	11920282	0.002000	0.14202	0.003000	0.11579	0.183000	0.23260	0.983000	0.29552	0.524000	0.28502	0.254000	0.18369	GAC		0.408	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF700	90592	broad.mit.edu	37	19	12059434	12059434	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12059434T>G	ENST00000254321.5	+	4	738	c.595T>G	c.(595-597)Tgt>Ggt	p.C199G	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.C181G	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C199G(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTGTAAAGTCTGTGGAAAAAC	0.398																																					p.C199G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T595G	19						.						83.0	86.0	85.0					19																	12059434		2203	4300	6503	11920434	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.595T>G	19.37:g.12059434T>G	ENSP00000254321:p.Cys199Gly	Somatic		Capture	Illumina HiSeq	Phase_I	11920434	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	t	13.00	2.105303	0.37145	.	.	ENSG00000196757	ENST00000254321	D	0.85861	-2.04	0.554	0.554	0.17241	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93151	0.7819	H	0.96777	3.88	0.39394	D	0.966463	D	0.76494	0.999	D	0.87578	0.998	D	0.90338	0.4357	9	0.66056	D	0.02	.	5.34	0.15979	0.0:1.0E-4:0.0:0.9999	.	199	Q9H0M5	ZN700_HUMAN	G	199	ENSP00000254321:C199G	ENSP00000254321:C199G	C	+	1	0	ZNF700	11920434	0.998000	0.40836	0.011000	0.14972	0.016000	0.09150	4.114000	0.57858	0.450000	0.26774	0.254000	0.18369	TGT		0.398	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF700	90592	broad.mit.edu	37	19	12059804	12059804	+	Missense_Mutation	SNP	G	G	A	rs370568041		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12059804G>A	ENST00000254321.5	+	4	1108	c.965G>A	c.(964-966)cGt>cAt	p.R322H	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R304H	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R322H(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTTCTCTTCGTAGACATGAA	0.378																																					p.R322H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	19						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	74.0	72.0		965	-0.9	0.0	19		72	0,8600		0,0,4300	no	missense	ZNF700	NM_144566.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	322/743	12059804	1,13005	2203	4300	6503	11920804	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.965G>A	19.37:g.12059804G>A	ENSP00000254321:p.Arg322His	Somatic		Capture	Illumina HiSeq	Phase_I	11920804	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	7.682	0.689202	0.14973	2.27E-4	0.0	ENSG00000196757	ENST00000254321	T	0.22539	1.95	0.768	-0.949	0.10376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.43152	1.355	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.31668	-0.9935	9	0.29301	T	0.29	.	3.3617	0.07189	0.3286:0.4251:0.2463:0.0	.	322	Q9H0M5	ZN700_HUMAN	H	322	ENSP00000254321:R322H	ENSP00000254321:R322H	R	+	2	0	ZNF700	11920804	0.000000	0.05858	0.010000	0.14722	0.227000	0.25037	-0.257000	0.08745	-0.367000	0.08052	0.305000	0.20034	CGT		0.378	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF700	90592	broad.mit.edu	37	19	12060566	12060566	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12060566C>T	ENST00000254321.5	+	4	1870	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.A558V	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A576V(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAGATCTGCCTCACACCTT	0.458																																					p.A576V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1727T	19						.						115.0	111.0	113.0					19																	12060566		2203	4300	6503	11921566	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1727C>T	19.37:g.12060566C>T	ENSP00000254321:p.Ala576Val	Somatic		Capture	Illumina HiSeq	Phase_I	11921566	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.043	-1.276964	0.01410	.	.	ENSG00000196757	ENST00000254321	T	0.07800	3.16	0.681	-1.36	0.09085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03739	0.0106	N	0.17631	0.505	0.09310	N	1	P	0.35077	0.483	B	0.27887	0.084	T	0.39143	-0.9628	9	0.22109	T	0.4	.	4.1931	0.10430	0.1744:0.2199:0.0:0.6057	.	576	Q9H0M5	ZN700_HUMAN	V	576	ENSP00000254321:A576V	ENSP00000254321:A576V	A	+	2	0	ZNF700	11921566	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.283000	0.00135	-1.866000	0.01145	-1.800000	0.00619	GCC		0.458	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF625	90589	broad.mit.edu	37	19	12257020	12257020	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12257020G>T	ENST00000355738.1	-	4	362	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.L5I|ZNF625_ENST00000439556.2_Missense_Mutation_p.L71I|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L5I(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CTTTCTAAGAGTCTCTCTCCC	0.373																																					p.L5I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13A	19						.						69.0	69.0	69.0					19																	12257020		2202	4298	6500	12118020	SO:0001583	missense	90589	exon4			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.13C>A	19.37:g.12257020G>T	ENSP00000347977:p.Leu5Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12118020	NM_145233	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	G	11.13	1.549077	0.27652	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.08458	3.09;3.09;3.27	1.41	-1.88	0.07713	.	.	.	.	.	T	0.03783	0.0107	N	0.12920	0.275	0.09310	N	0.999999	P;P	0.49253	0.753;0.921	B;B	0.41036	0.073;0.346	T	0.40001	-0.9586	9	0.20519	T	0.43	.	3.995	0.09554	0.1969:0.2443:0.5587:0.0	.	5;5	A8K8U0;Q96I27	.;ZN625_HUMAN	I	5;5;71	ENSP00000438436:L5I;ENSP00000347977:L5I;ENSP00000394380:L71I	ENSP00000347977:L5I	L	-	1	0	AC022415.5	12118020	0.113000	0.22115	0.034000	0.17996	0.580000	0.36256	1.243000	0.32767	-0.051000	0.13334	0.313000	0.20887	CTC		0.373	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF799	90576	broad.mit.edu	37	19	12501457	12501457	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12501457C>A	ENST00000430385.3	-	4	1955	c.1755G>T	c.(1753-1755)gaG>gaT	p.E585D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E553D	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E585D(1)|p.E372D(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CATACGGGTTCTCTCCAGTAT	0.403																																					p.E585D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1755T	19						.						73.0	76.0	75.0					19																	12501457		2201	4296	6497	12362457	SO:0001583	missense	90576	exon4			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1755G>T	19.37:g.12501457C>A	ENSP00000411084:p.Glu585Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12362457	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245542	0.39697	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.26810	1.71;1.71	1.27	0.189	0.15119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.54965	1.715	0.23468	N	0.99762	P	0.51537	0.946	D	0.70935	0.971	T	0.17107	-1.0380	9	0.62326	D	0.03	.	6.773	0.23604	0.0:0.8263:0.0:0.1737	.	585	Q96GE5	ZN799_HUMAN	D	553;585	ENSP00000415278:E553D;ENSP00000411084:E585D	ENSP00000415278:E553D	E	-	3	2	ZNF799	12362457	0.820000	0.29190	0.025000	0.17156	0.009000	0.06853	0.295000	0.19065	0.114000	0.18032	0.423000	0.28283	GAG		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
ZNF799	90576	broad.mit.edu	37	19	12502322	12502322	+	Missense_Mutation	SNP	C	C	T	rs571340687		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12502322C>T	ENST00000430385.3	-	4	1090	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.R265Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R297Q(1)|p.R84Q(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCGTGTCTTCGAAGGGAAGT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23161	0.0		0.0	False		,,,				2504	0.001				p.R297Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G890A	19						.						161.0	155.0	157.0					19																	12502322		2203	4300	6503	12363322	SO:0001583	missense	90576	exon4			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.890G>A	19.37:g.12502322C>T	ENSP00000411084:p.Arg297Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12363322	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	1.961	-0.438840	0.04636	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.04275	3.66;3.66	1.31	-2.39	0.06602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.48758	-0.9007	9	0.14656	T	0.56	.	5.8875	0.18890	0.0:0.4228:0.0:0.5772	.	297	Q96GE5	ZN799_HUMAN	Q	265;297	ENSP00000415278:R265Q;ENSP00000411084:R297Q	ENSP00000415278:R265Q	R	-	2	0	ZNF799	12363322	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.501000	0.00966	-0.784000	0.04528	0.430000	0.28490	CGA		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
ZNF443	10224	broad.mit.edu	37	19	12542084	12542084	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12542084C>A	ENST00000301547.5	-	4	1099	c.902G>T	c.(901-903)aGa>aTa	p.R301I	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	301					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R301I(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGTGTGAGTTCTTTCATGTAT	0.408																																					p.R301I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G902T	19						.						115.0	116.0	116.0					19																	12542084		2203	4298	6501	12403084	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.902G>T	19.37:g.12542084C>A	ENSP00000301547:p.Arg301Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12403084	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797254	0.70567	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24908	1.83	1.26	0.148	0.14843	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37598	0.1009	L	0.49455	1.56	0.40121	D	0.976602	D	0.89917	1.0	D	0.79108	0.992	T	0.17137	-1.0379	9	0.52906	T	0.07	.	6.9018	0.24286	0.0:0.8278:0.0:0.1722	.	301	Q9Y2A4	ZN443_HUMAN	I	301	ENSP00000301547:R301I	ENSP00000301547:R301I	R	-	2	0	ZNF443	12403084	0.000000	0.05858	0.031000	0.17742	0.831000	0.47069	-1.207000	0.03008	0.106000	0.17784	0.461000	0.40582	AGA		0.408	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF443	10224	broad.mit.edu	37	19	12542152	12542152	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12542152C>A	ENST00000301547.5	-	4	1031	c.834G>T	c.(832-834)gaG>gaT	p.E278D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	278					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E278D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATGGTTTCTCCCCAGTAT	0.383																																					p.E278D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G834T	19						.						141.0	145.0	144.0					19																	12542152		2203	4299	6502	12403152	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.834G>T	19.37:g.12542152C>A	ENSP00000301547:p.Glu278Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12403152	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787545	0.49997	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.26810	1.71	1.13	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30417	0.0764	L	0.60455	1.87	0.31701	N	0.640773	P	0.39717	0.684	P	0.44696	0.458	T	0.43653	-0.9378	9	0.62326	D	0.03	.	9.8423	0.41006	0.0:1.0:0.0:0.0	.	278	Q9Y2A4	ZN443_HUMAN	D	278	ENSP00000301547:E278D	ENSP00000301547:E278D	E	-	3	2	ZNF443	12403152	0.029000	0.19370	0.016000	0.15963	0.224000	0.24922	0.153000	0.16323	0.935000	0.37341	0.306000	0.20318	GAG		0.383	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF709	163051	broad.mit.edu	37	19	12575345	12575345	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12575345C>A	ENST00000397732.3	-	4	1562	c.1391G>T	c.(1390-1392)cGa>cTa	p.R464L	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R464L	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R464L(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGCATTCGAAAGGAACT	0.403																																					p.R464L	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1391T	19						.						98.0	104.0	102.0					19																	12575345		2201	4298	6499	12436345	SO:0001583	missense	163051	exon4			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1391G>T	19.37:g.12575345C>A	ENSP00000380840:p.Arg464Leu	Somatic		Capture	Illumina HiSeq	Phase_I	12436345	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049608	0.55218	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07327	3.2;3.2	3.05	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28766	N	0.014218	T	0.04272	0.0118	L	0.35593	1.075	0.09310	N	1	P	0.43826	0.818	B	0.37346	0.247	T	0.40478	-0.9561	10	0.30078	T	0.28	.	3.8542	0.08968	0.18:0.2934:0.0:0.5266	.	464	Q8N972	ZN709_HUMAN	L	464	ENSP00000380840:R464L;ENSP00000404127:R464L	ENSP00000404127:R464L	R	-	2	0	ZNF709;CTD-2192J16.17	12436345	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-2.566000	0.00917	-0.250000	0.09555	0.591000	0.81541	CGA		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF709	163051	broad.mit.edu	37	19	12575753	12575753	+	Missense_Mutation	SNP	C	C	A	rs201182032		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12575753C>A	ENST00000397732.3	-	4	1154	c.983G>T	c.(982-984)aGa>aTa	p.R328I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R328I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R328I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TGTATGAATTCTTTCATGTTT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		20810	0.0		0.001	False		,,,				2504	0.0				p.R328I	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983T	19						.	C	ILE/ARG	0,4342		0,0,2171	49.0	55.0	53.0		983	1.9	0.4	19		53	1,8573		0,1,4286	no	missense	ZNF709	NM_152601.3	97	0,1,6457	AA,AC,CC		0.0117,0.0,0.0077	benign	328/642	12575753	1,12915	2171	4287	6458	12436753	SO:0001583	missense	163051	exon4			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.983G>T	19.37:g.12575753C>A	ENSP00000380840:p.Arg328Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12436753	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.03	3.008377	0.54361	0.0	1.17E-4	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24908	1.83;1.83	2.91	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38720	N	0.001595	T	0.44095	0.1277	M	0.78344	2.41	0.44142	D	0.996936	D	0.58268	0.982	D	0.65573	0.936	T	0.35051	-0.9804	10	0.59425	D	0.04	.	7.1049	0.25358	0.0:0.762:0.0:0.238	.	328	Q8N972	ZN709_HUMAN	I	328	ENSP00000380840:R328I;ENSP00000404127:R328I	ENSP00000404127:R328I	R	-	2	0	ZNF709;CTD-2192J16.17	12436753	0.000000	0.05858	0.392000	0.26245	0.919000	0.55068	-0.444000	0.06854	0.805000	0.34159	0.467000	0.42956	AGA		0.358	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF564	163050	broad.mit.edu	37	19	12637516	12637516	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12637516C>A	ENST00000339282.7	-	4	1602	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R469I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTATGAGTTCTTTCATGTGT	0.378																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	19						.						145.0	150.0	148.0					19																	12637516		2195	4298	6493	12498516	SO:0001583	missense	163050	exon4			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1406G>T	19.37:g.12637516C>A	ENSP00000340004:p.Arg469Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12498516	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321081	0.81580	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46054	0.1373	M	0.83312	2.635	0.80722	D	1	D	0.53312	0.959	P	0.58331	0.837	T	0.55173	-0.8182	9	0.66056	D	0.02	.	11.109	0.48221	0.0:1.0:0.0:0.0	.	469	Q8TBZ8	ZN564_HUMAN	I	469	ENSP00000340004:R469I	ENSP00000340004:R469I	R	-	2	0	ZNF564	12498516	0.000000	0.05858	0.009000	0.14445	0.998000	0.95712	0.084000	0.14891	1.287000	0.44583	0.643000	0.83706	AGA		0.378	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
ZNF564	163050	broad.mit.edu	37	19	12637939	12637939	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12637939T>C	ENST00000339282.7	-	4	1179	c.983A>G	c.(982-984)gAa>gGa	p.E328G	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E328G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGAGTTCTTTCATGCTTTCG	0.378																																					p.E328G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A983G	19						.						51.0	56.0	54.0					19																	12637939		2159	4281	6440	12498939	SO:0001583	missense	163050	exon4			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.983A>G	19.37:g.12637939T>C	ENSP00000340004:p.Glu328Gly	Somatic		Capture	Illumina HiSeq	Phase_I	12498939	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939407	0.34189	.	.	ENSG00000249709	ENST00000339282	T	0.07444	3.19	1.71	0.647	0.17796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17152	0.0412	M	0.75615	2.305	0.09310	N	0.999999	P	0.36944	0.574	P	0.48141	0.568	T	0.17077	-1.0381	9	0.66056	D	0.02	.	6.3002	0.21109	0.2221:0.0:0.0:0.7779	.	328	Q8TBZ8	ZN564_HUMAN	G	328	ENSP00000340004:E328G	ENSP00000340004:E328G	E	-	2	0	ZNF564	12498939	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.099000	0.11007	0.137000	0.18759	0.523000	0.50628	GAA		0.378	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
ZNF564	163050	broad.mit.edu	37	19	12638272	12638272	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12638272C>A	ENST00000339282.7	-	4	846	c.650G>T	c.(649-651)aGa>aTa	p.R217I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R217I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTGTGAGTTCTTTCATGTAT	0.403																																					p.R217I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650T	19						.						83.0	92.0	89.0					19																	12638272		2198	4297	6495	12499272	SO:0001583	missense	163050	exon4			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.650G>T	19.37:g.12638272C>A	ENSP00000340004:p.Arg217Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12499272	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845086	0.51164	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39784	0.1091	M	0.85630	2.765	0.09310	N	0.999996	D	0.67145	0.996	P	0.60286	0.872	T	0.26503	-1.0101	9	0.51188	T	0.08	.	0.7735	0.01028	0.1622:0.1849:0.31:0.343	.	217	Q8TBZ8	ZN564_HUMAN	I	217	ENSP00000340004:R217I	ENSP00000340004:R217I	R	-	2	0	ZNF564	12499272	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-0.297000	0.08276	-1.189000	0.02702	0.549000	0.68633	AGA		0.403	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
ZNF490	57474	broad.mit.edu	37	19	12691324	12691324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12691324C>A	ENST00000311437.6	-	5	1687	c.1565G>T	c.(1564-1566)aGg>aTg	p.R522M	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_Nonsense_Mutation_p.G156*	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	522					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)	p.R522M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTATGAGTCCTTTCGTGCAC	0.403																																					p.R522M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1565T	19						.						181.0	162.0	168.0					19																	12691324		2203	4300	6503	12552324	SO:0001583	missense	57474	exon5			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1565G>T	19.37:g.12691324C>A	ENSP00000311521:p.Arg522Met	Somatic		Capture	Illumina HiSeq	Phase_I	12552324	NM_020714		Missense_Mutation	SNP	ENST00000311437.6	37	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904614	0.17760	.	.	ENSG00000188033	ENST00000311437	T	0.10099	2.91	0.832	-0.471	0.12119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15478	0.0373	M	0.64170	1.965	0.09310	N	1	D	0.61080	0.989	P	0.53006	0.715	T	0.15549	-1.0433	9	0.72032	D	0.01	.	1.6092	0.02690	0.3439:0.401:0.0:0.2551	.	522	Q9ULM2	ZN490_HUMAN	M	522	ENSP00000311521:R522M	ENSP00000311521:R522M	R	-	2	0	ZNF490	12552324	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.007000	0.12810	-0.114000	0.11936	0.313000	0.20887	AGG		0.403	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714	
MAN2B1	4125	broad.mit.edu	37	19	12775720	12775720	+	Missense_Mutation	SNP	C	C	A	rs144119421		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12775720C>A	ENST00000456935.2	-	4	556	c.516G>T	c.(514-516)atG>atT	p.M172I	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.M169I|MAN2B1_ENST00000221363.4_Missense_Mutation_p.M172I|WDR83_ENST00000418543.3_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	172					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.M172I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCCAAGTGTCATCTGGTCCA	0.622																																					p.M172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G516T	19						.						108.0	76.0	87.0					19																	12775720		2203	4300	6503	12636720	SO:0001583	missense	4125	exon4				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.516G>T	19.37:g.12775720C>A	ENSP00000395473:p.Met172Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12636720	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989270	0.93106	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.72394	-0.65;-0.65	5.69	4.66	0.58398	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.56097	D	0.000022	T	0.82051	0.4953	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82944	-0.0206	10	0.62326	D	0.03	-75.2058	11.6902	0.51510	0.0:0.9151:0.0:0.0849	.	172;172	G5E928;O00754	.;MA2B1_HUMAN	I	172;111;172	ENSP00000395473:M172I;ENSP00000221363:M172I	ENSP00000221363:M172I	M	-	3	0	MAN2B1	12636720	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.602000	0.61098	2.688000	0.91661	0.491000	0.48974	ATG		0.622	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
HOOK2	29911	broad.mit.edu	37	19	12883482	12883482	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12883482C>A	ENST00000397668.3	-	6	474	c.401G>T	c.(400-402)aGa>aTa	p.R134I	HOOK2_ENST00000264827.5_Missense_Mutation_p.R134I|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	134	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R134I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGTCATGATTCTCTGGATGTG	0.582																																					p.R134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G401T	19						.						172.0	163.0	166.0					19																	12883482		1949	4136	6085	12744482	SO:0001583	missense	29911	exon6			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.401G>T	19.37:g.12883482C>A	ENSP00000380785:p.Arg134Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12744482	NM_001100176	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541879	0.45280	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17691	2.26;2.26	4.12	4.12	0.48240	.	0.079249	0.53938	D	0.000057	T	0.18383	0.0441	L	0.50919	1.6	0.40956	D	0.984588	P;P	0.50528	0.921;0.936	B;P	0.47705	0.419;0.555	T	0.02190	-1.1198	10	0.29301	T	0.29	-8.7283	6.8041	0.23768	0.0:0.7922:0.0:0.2077	.	134;134	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	I	134	ENSP00000380785:R134I;ENSP00000264827:R134I	ENSP00000264827:R134I	R	-	2	0	HOOK2	12744482	0.460000	0.25776	1.000000	0.80357	0.953000	0.61014	0.853000	0.27777	1.996000	0.58369	0.455000	0.32223	AGA		0.582	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312	
MAST1	22983	broad.mit.edu	37	19	12958856	12958856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12958856G>T	ENST00000251472.4	+	7	798	c.759G>T	c.(757-759)gaG>gaT	p.E253D	MAST1_ENST00000591495.1_Missense_Mutation_p.E249D	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.E253D(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAACCTGGAGAAGCTCCTTC	0.587																																					p.E253D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G759T	19						.						41.0	34.0	36.0					19																	12958856		2203	4300	6503	12819856	SO:0001583	missense	22983	exon7			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.759G>T	19.37:g.12958856G>T	ENSP00000251472:p.Glu253Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12819856	NM_014975		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180158	0.78564	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.42131	0.98	5.36	0.733	0.18289	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.131624	0.49305	D	0.000157	T	0.56615	0.1997	M	0.72118	2.19	0.43417	D	0.995564	D;B	0.89917	1.0;0.008	D;B	0.91635	0.999;0.043	T	0.51148	-0.8742	10	0.36615	T	0.2	-25.7909	9.0638	0.36451	0.3147:0.0:0.6853:0.0	.	253;253	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	D	253	ENSP00000251472:E253D	ENSP00000251472:E253D	E	+	3	2	MAST1	12819856	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.621000	0.46418	0.066000	0.16515	0.561000	0.74099	GAG		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
MUM1	84939	broad.mit.edu	37	19	1360462	1360462	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:1360462G>A	ENST00000415183.3	+	4	571	c.545G>A	c.(544-546)aGg>aAg	p.R182K	MUM1_ENST00000591806.1_Missense_Mutation_p.R182K|MUM1_ENST00000344663.3_Missense_Mutation_p.R182K|MUM1_ENST00000311401.5_Missense_Mutation_p.R113K			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	181					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.R182K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGGGCTCAGGAAAAGTGAA	0.532											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R182K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	19						.						43.0	44.0	44.0					19																	1360462		2203	4300	6503	1311462	SO:0001583	missense	84939	exon5			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.545G>A	19.37:g.1360462G>A	ENSP00000394925:p.Arg182Lys	Somatic	595	Capture	Illumina HiSeq	Phase_I	1311462	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	G	0.604	-0.827926	0.02734	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.30714	1.52;1.52;1.52	4.1	1.88	0.25563	.	2.110680	0.01840	N	0.035264	T	0.18964	0.0455	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.22800	0.027;0.075;0.023;0.003	B;B;B;B	0.14023	0.01;0.01;0.007;0.001	T	0.17319	-1.0373	10	0.06625	T	0.88	.	5.5495	0.17083	0.1134:0.2133:0.6733:0.0	.	182;182;113;181	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	K	182;113;182;111	ENSP00000345789:R182K;ENSP00000309135:R113K;ENSP00000394925:R182K	ENSP00000309135:R113K	R	+	2	0	MUM1	1311462	0.007000	0.16637	0.001000	0.08648	0.026000	0.11368	1.439000	0.35013	0.462000	0.27095	0.655000	0.94253	AGG		0.532	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
SYCE2	256126	broad.mit.edu	37	19	13015377	13015377	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:13015377C>T	ENST00000293695.7	-	3	253	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	79					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.E79K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGATGTTTTCGATCAGCTCC	0.552																																					p.E79K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	19						.						229.0	228.0	228.0					19																	13015377		2057	4209	6266	12876377	SO:0001583	missense	256126	exon3			AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.235G>A	19.37:g.13015377C>T	ENSP00000293695:p.Glu79Lys	Somatic		Capture	Illumina HiSeq	Phase_I	12876377	NM_001105578	B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169531	0.57584	.	.	ENSG00000161860	ENST00000293695	T	0.74947	-0.89	5.15	2.99	0.34606	.	0.135326	0.47455	D	0.000237	T	0.57548	0.2061	L	0.31664	0.95	0.34421	D	0.697434	P	0.41450	0.75	B	0.36845	0.234	T	0.66480	-0.5913	10	0.72032	D	0.01	-0.3191	6.7109	0.23276	0.0:0.7256:0.1797:0.0947	.	79	Q6PIF2	SYCE2_HUMAN	K	79	ENSP00000293695:E79K	ENSP00000293695:E79K	E	-	1	0	SYCE2	12876377	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.300000	0.43620	0.735000	0.32537	0.561000	0.74099	GAA		0.552	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609	
CACNA1A	773	broad.mit.edu	37	19	13414397	13414397	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:13414397G>T	ENST00000360228.5	-	17	2134	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A713D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	713					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.A713D(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTGTCCACAGCGATGGCCAA	0.567																																					p.A712D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2135A	19						.						48.0	50.0	49.0					19																	13414397		1965	4166	6131	13275397	SO:0001583	missense	773	exon17			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2135C>A	19.37:g.13414397G>T	ENSP00000353362:p.Ala712Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13275397	NM_001127222	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894134	0.72639	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97598	-4.45	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.98785	0.9591	M	0.93106	3.38	0.80722	D	1	P;D;D	0.89917	0.489;0.999;1.0	B;D;D	0.91635	0.112;0.974;0.999	D	0.99577	1.0972	10	0.72032	D	0.01	.	17.136	0.86739	0.0:0.0:1.0:0.0	.	713;713;712	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	712;713;713;713	ENSP00000353362:A712D	ENSP00000317661:A713D	A	-	2	0	CACNA1A	13275397	1.000000	0.71417	0.974000	0.42286	0.982000	0.71751	9.612000	0.98347	2.574000	0.86865	0.561000	0.74099	GCT		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ZSWIM4	65249	broad.mit.edu	37	19	13941063	13941063	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:13941063G>T	ENST00000254323.2	+	13	2358	c.2169G>T	c.(2167-2169)gaG>gaT	p.E723D	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E557D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	723							zinc ion binding (GO:0008270)	p.E723D(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CACCAGTGGAGGCGGCTACCA	0.632																																					p.E723D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2169T	19						.						68.0	67.0	67.0					19																	13941063		2203	4300	6503	13802063	SO:0001583	missense	65249	exon13			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2169G>T	19.37:g.13941063G>T	ENSP00000254323:p.Glu723Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13802063	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545261	0.45280	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.66815	-0.23;-0.13	4.16	1.96	0.26148	.	0.000000	0.64402	D	0.000019	T	0.76601	0.4010	M	0.72894	2.215	0.40857	D	0.983807	D;D	0.76494	0.996;0.999	P;D	0.77557	0.848;0.99	T	0.76626	-0.2890	10	0.66056	D	0.02	-14.8647	8.4336	0.32773	0.2061:0.0:0.7939:0.0	.	557;723	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	D	723;557	ENSP00000254323:E723D;ENSP00000405278:E557D	ENSP00000254323:E723D	E	+	3	2	ZSWIM4	13802063	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	0.891000	0.28309	0.732000	0.32470	0.491000	0.48974	GAG		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
CD97	976	broad.mit.edu	37	19	14507207	14507207	+	Missense_Mutation	SNP	G	G	A	rs372889912		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14507207G>A	ENST00000242786.5	+	5	480	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.V134I	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	134	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.V134I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGCACCTGCGTCAACACCCT	0.572																																					p.V134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400A	19						.	G	ILE/VAL,,ILE/VAL	0,4406		0,0,2203	160.0	122.0	135.0		400,,400	-3.6	0.0	19		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,,benign	134/787,,134/836	14507207	1,13005	2203	4300	6503	14368207	SO:0001583	missense	976	exon5				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.400G>A	19.37:g.14507207G>A	ENSP00000242786:p.Val134Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14368207	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	0.598	-0.830392	0.02734	0.0	1.16E-4	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	D;D	0.87412	-2.25;-2.25	4.4	-3.56	0.04626	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.64011	0.2560	N	0.02876	-0.465	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.10450	0.005;0.001	T	0.54364	-0.8305	9	0.11182	T	0.66	.	6.6935	0.23185	0.3496:0.161:0.4894:0.0	.	134;134	P48960-3;P48960	.;CD97_HUMAN	I	134;134;133	ENSP00000242786:V134I;ENSP00000349918:V134I	ENSP00000242786:V134I	V	+	1	0	CD97	14368207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.036000	0.03560	-1.090000	0.03069	-1.633000	0.00780	GTC		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
PKN1	5585	broad.mit.edu	37	19	14574934	14574934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14574934C>T	ENST00000242783.6	+	12	1865	c.1700C>T	c.(1699-1701)tCg>tTg	p.S567L	PKN1_ENST00000342216.4_Missense_Mutation_p.S573L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	567					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.S567L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAAGAGCTCGCGGGATCCT	0.642																																					p.S573L	NSCLC(185;2539 2965 10733 52867)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1718T	19						.						65.0	69.0	68.0					19																	14574934		2027	4187	6214	14435934	SO:0001583	missense	5585	exon12			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1700C>T	19.37:g.14574934C>T	ENSP00000242783:p.Ser567Leu	Somatic		Capture	Illumina HiSeq	Phase_I	14435934	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	6.669	0.491999	0.12702	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.30448	1.53;1.53	4.4	3.37	0.38596	.	0.408590	0.20669	U	0.087863	T	0.15522	0.0374	N	0.12746	0.255	0.20563	N	0.999885	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17410	-1.0370	10	0.27785	T	0.31	-18.4612	8.1196	0.30963	0.0:0.8887:0.0:0.1113	.	573;567	Q16512-2;Q16512	.;PKN1_HUMAN	L	567;573	ENSP00000242783:S567L;ENSP00000343325:S573L	ENSP00000242783:S567L	S	+	2	0	PKN1	14435934	0.450000	0.25697	0.619000	0.29118	0.070000	0.16714	1.567000	0.36407	1.073000	0.40885	0.484000	0.47621	TCG		0.642	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
EMR3	84658	broad.mit.edu	37	19	14749127	14749127	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14749127G>A	ENST00000253673.5	-	11	1374	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	EMR3_ENST00000599900.1_Missense_Mutation_p.A210V|EMR3_ENST00000344373.4_Missense_Mutation_p.A373V|EMR3_ENST00000443157.2_Missense_Mutation_p.A299V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	425					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A425V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATAGTGCAAAGCACCGGCGAT	0.582																																					p.A425V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1274T	19						.						90.0	73.0	79.0					19																	14749127		2203	4300	6503	14610127	SO:0001583	missense	84658	exon11			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1274C>T	19.37:g.14749127G>A	ENSP00000253673:p.Ala425Val	Somatic		Capture	Illumina HiSeq	Phase_I	14610127	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459691	0.26248	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.40756	1.02;1.02;1.02	4.33	2.11	0.27256	GPCR, family 2-like (1);	.	.	.	.	T	0.32315	0.0825	N	0.11560	0.145	0.09310	N	1	D;D;B	0.60160	0.978;0.987;0.236	P;P;B	0.60117	0.744;0.869;0.241	T	0.21415	-1.0246	9	0.29301	T	0.29	.	2.4953	0.04620	0.1064:0.1878:0.5115:0.1944	.	299;373;425	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	299;425;373	ENSP00000396208:A299V;ENSP00000253673:A425V;ENSP00000340758:A373V	ENSP00000253673:A425V	A	-	2	0	EMR3	14610127	0.649000	0.27322	0.526000	0.27913	0.006000	0.05464	2.769000	0.47654	2.244000	0.73946	0.650000	0.86243	GCT		0.582	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
EMR3	84658	broad.mit.edu	37	19	14765878	14765878	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14765878G>T	ENST00000253673.5	-	6	593	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.L113I|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	165					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L165I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACATCCCGGAGAATAGTGGTA	0.403																																					p.L165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493A	19						.						154.0	148.0	150.0					19																	14765878		2203	4300	6503	14626878	SO:0001583	missense	84658	exon6			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.493C>A	19.37:g.14765878G>T	ENSP00000253673:p.Leu165Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14626878	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231608	0.39399	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.27720	1.65;1.65	3.65	2.6	0.31112	.	.	.	.	.	T	0.45094	0.1325	L	0.52759	1.655	0.09310	N	1	D;D	0.76494	0.999;0.995	D;P	0.72075	0.976;0.831	T	0.15321	-1.0441	9	0.72032	D	0.01	.	7.7859	0.29091	0.1229:0.0:0.8771:0.0	.	113;165	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	I	165;113	ENSP00000253673:L165I;ENSP00000340758:L113I	ENSP00000253673:L165I	L	-	1	0	EMR3	14626878	0.794000	0.28838	0.029000	0.17559	0.002000	0.02628	1.581000	0.36558	0.835000	0.34877	0.655000	0.94253	CTC		0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
EMR3	84658	broad.mit.edu	37	19	14772866	14772866	+	Silent	SNP	G	G	A	rs150826128		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14772866G>A	ENST00000253673.5	-	4	364	c.264C>T	c.(262-264)gtC>gtT	p.V88V	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	88	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V88V(4)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACTTCCTTCGACATTGTAAC	0.393																																					p.V88V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C264T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	197.0	165.0	176.0		264	-8.2	0.0	19	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	EMR3	NM_032571.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		88/653	14772866	1,13005	2203	4300	6503	14633866	SO:0001819	synonymous_variant	84658	exon4			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.264C>T	19.37:g.14772866G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14633866	NM_032571		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
ZNF333	84449	broad.mit.edu	37	19	14829331	14829331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14829331G>T	ENST00000292530.6	+	12	1283	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.E289*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E398*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACTGTCAAGAATGTGGGCA	0.438																																					p.E398X	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	19						.						61.0	59.0	60.0					19																	14829331		2203	4300	6503	14690331	SO:0001587	stop_gained	84449	exon12				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1192G>T	19.37:g.14829331G>T	ENSP00000292530:p.Glu398*	Somatic		Capture	Illumina HiSeq	Phase_I	14690331	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	41	8.836367	0.98972	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	.	.	.	3.34	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.5959	0.56470	0.0:0.0:1.0:0.0	.	.	.	.	X	289;398	.	ENSP00000292530:E398X	E	+	1	0	ZNF333	14690331	0.052000	0.20516	0.018000	0.16275	0.959000	0.62525	0.925000	0.28791	1.894000	0.54839	0.585000	0.79938	GAA		0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
OR7C1	26664	broad.mit.edu	37	19	14910661	14910661	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14910661G>A	ENST00000248073.2	-	1	362	c.288C>T	c.(286-288)ggC>ggT	p.G96G	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	96					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GACTGAGACAGCCTGCATATG	0.448																																					p.G96G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288T	19						.						74.0	71.0	72.0					19																	14910661		2203	4300	6503	14771661	SO:0001819	synonymous_variant	26664	exon1			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.288C>T	19.37:g.14910661G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14771661	NM_198944	Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	CCDS12317.1																																																																																				0.448	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
OR7C2	26658	broad.mit.edu	37	19	15052758	15052758	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15052758T>C	ENST00000248072.3	+	1	458	c.458T>C	c.(457-459)gTc>gCc	p.V153A		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V153A(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGCATCAGTGTCATGGGTTCC	0.517																																					p.V153A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T458C	19						.						199.0	195.0	196.0					19																	15052758		2203	4300	6503	14913758	SO:0001583	missense	26658	exon1			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.458T>C	19.37:g.15052758T>C	ENSP00000248072:p.Val153Ala	Somatic		Capture	Illumina HiSeq	Phase_I	14913758	NM_012377	O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	t	8.463	0.855810	0.17106	.	.	ENSG00000127529	ENST00000248072	T	0.00145	8.67	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.646542	0.12699	U	0.446493	T	0.00144	0.0004	L	0.36672	1.1	0.09310	N	1	B	0.20459	0.045	B	0.36186	0.219	T	0.14699	-1.0463	10	0.09843	T	0.71	.	9.8014	0.40766	0.0:0.0:0.0:1.0	.	153	O60412	OR7C2_HUMAN	A	153	ENSP00000248072:V153A	ENSP00000248072:V153A	V	+	2	0	OR7C2	14913758	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.158000	0.16422	1.893000	0.54813	0.421000	0.28195	GTC		0.517	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1		
OR7C2	26658	broad.mit.edu	37	19	15052825	15052825	+	Silent	SNP	G	G	A	rs148935964		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15052825G>A	ENST00000248072.3	+	1	525	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P175P(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGGAAATTCCGCACTTTTTTT	0.468																																					p.P175P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	19						.	G		0,4406		0,0,2203	208.0	205.0	206.0		525	-7.7	0.0	19	dbSNP_134	206	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR7C2	NM_012377.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		175/320	15052825	2,13004	2203	4300	6503	14913825	SO:0001819	synonymous_variant	26658	exon1			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.525G>A	19.37:g.15052825G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14913825	NM_012377	O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	CCDS12320.1																																																																																				0.468	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1		
SYDE1	85360	broad.mit.edu	37	19	15224460	15224460	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15224460G>A	ENST00000342784.2	+	8	1925	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	SYDE1_ENST00000600440.1_Missense_Mutation_p.E565K|SYDE1_ENST00000600252.1_Missense_Mutation_p.E289K	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	632					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.E632K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCAGACCCCGAAGTGGTGAC	0.682																																					p.E632K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1894A	19						.						57.0	69.0	65.0					19																	15224460		2202	4298	6500	15085460	SO:0001583	missense	85360	exon8			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1894G>A	19.37:g.15224460G>A	ENSP00000341489:p.Glu632Lys	Somatic		Capture	Illumina HiSeq	Phase_I	15085460	NM_033025	Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237279	0.39498	.	.	ENSG00000105137	ENST00000342784	T	0.47528	0.84	5.52	4.43	0.53597	.	0.305225	0.29431	N	0.012175	T	0.43299	0.1241	L	0.61218	1.895	0.36182	D	0.849465	B;B;B	0.23591	0.088;0.077;0.088	B;B;B	0.20577	0.03;0.024;0.03	T	0.49978	-0.8881	10	0.36615	T	0.2	.	10.812	0.46553	0.0:0.0:0.8114:0.1886	.	565;565;632	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	K	632	ENSP00000341489:E632K	ENSP00000341489:E632K	E	+	1	0	SYDE1	15085460	0.098000	0.21812	0.741000	0.31004	0.350000	0.29205	1.517000	0.35867	2.604000	0.88044	0.491000	0.48974	GAA		0.682	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	
CYP4F22	126410	broad.mit.edu	37	19	15651471	15651471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15651471G>A	ENST00000269703.3	+	8	1081	c.882G>A	c.(880-882)tgG>tgA	p.W294*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.W294*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	294						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.W294*(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCGAGGCCTGGCTTAAGGCCA	0.652																																					p.W294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G882A	19						.						53.0	47.0	49.0					19																	15651471		2203	4300	6503	15512471	SO:0001587	stop_gained	126410	exon8				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.882G>A	19.37:g.15651471G>A	ENSP00000269703:p.Trp294*	Somatic		Capture	Illumina HiSeq	Phase_I	15512471	NM_173483	Q8N8H4	Nonsense_Mutation	SNP	ENST00000269703.3	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127660	0.94473	.	.	ENSG00000171954	ENST00000269703	.	.	.	5.15	4.1	0.47936	.	0.320512	0.30920	N	0.008607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.4461	0.61142	0.0:0.1586:0.8414:0.0	.	.	.	.	X	294	.	ENSP00000269703:W294X	W	+	3	0	CYP4F22	15512471	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.463000	0.60128	1.157000	0.42530	0.453000	0.30009	TGG		0.652	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
CYP4F8	11283	broad.mit.edu	37	19	15730531	15730531	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15730531C>T	ENST00000441682.2	+	0	545							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P161S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CATCCTGAAGCCCTATATAAA	0.507																																					p.S161S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C483T	19						.						54.0	56.0	55.0					19																	15730531		2203	4300	6503	15591531			11283	exon5			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730531C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15591531	NM_007253		Missense_Mutation	SNP	ENST00000441682.2	37		.	.	.	.	.	.	.	.	.	.	.	3.391	-0.124242	0.06795	.	.	ENSG00000186526	ENST00000441682;ENST00000443973	.	.	.	2.98	0.737	0.18314	.	0.592094	0.15411	N	0.263793	T	0.37732	0.1014	.	.	.	.	.	.	P	0.39424	0.673	P	0.47075	0.536	T	0.40776	-0.9545	7	0.38643	T	0.18	.	3.0534	0.06176	0.2093:0.5524:0.0:0.2382	.	162	P98187	CP4F8_HUMAN	S	161;11	.	ENSP00000409702:P161S	P	+	1	0	CYP4F8	15591531	0.169000	0.23002	0.885000	0.34714	0.033000	0.12548	-0.044000	0.12023	0.138000	0.18790	0.313000	0.20887	CCC		0.507	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
CYP4F8	11283	broad.mit.edu	37	19	15739620	15739620	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15739620C>A	ENST00000441682.2	+	0	1425							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P454H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AAGAGGTCACCTATGGCTTTT	0.607																																					p.L455I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1363A	19						.						59.0	63.0	62.0					19																	15739620		1993	4190	6183	15600620			11283	exon12			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739620C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15600620	NM_007253		Missense_Mutation	SNP	ENST00000441682.2	37		.	.	.	.	.	.	.	.	.	.	.	17.49	3.402157	0.62288	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	3.32	0.38043	.	0.151497	0.45361	U	0.000364	T	0.73682	0.3618	.	.	.	0.35219	D	0.775865	D;D	0.76494	0.999;0.983	D;P	0.76071	0.987;0.899	T	0.82198	-0.0576	7	0.66056	D	0.02	.	12.1517	0.54053	0.0:1.0:0.0:0.0	.	267;455	B4DU85;P98187	.;CP4F8_HUMAN	H	454;267	.	ENSP00000314398:P267H	P	+	2	0	CYP4F8	15600620	0.930000	0.31532	0.962000	0.40283	0.619000	0.37552	4.802000	0.62539	1.681000	0.50988	0.436000	0.28706	CCT		0.607	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
OR10H1	26539	broad.mit.edu	37	19	15918780	15918780	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15918780A>T	ENST00000334920.2	-	1	156	c.68T>A	c.(67-69)cTc>cAc	p.L23H		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L23H(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CATCAGCTGGAGGTGGGGGAA	0.592																																					p.L23H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T68A	19						.						154.0	142.0	146.0					19																	15918780		2203	4300	6503	15779780	SO:0001583	missense	26539	exon1			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.68T>A	19.37:g.15918780A>T	ENSP00000335596:p.Leu23His	Somatic		Capture	Illumina HiSeq	Phase_I	15779780	NM_013940	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.415174	0.25552	.	.	ENSG00000186723	ENST00000334920	T	0.05580	3.42	4.47	3.45	0.39498	.	0.000000	0.43919	D	0.000515	T	0.17704	0.0425	M	0.67700	2.07	0.09310	N	0.999995	D	0.89917	1.0	D	0.72338	0.977	T	0.05305	-1.0893	10	0.31617	T	0.26	.	7.997	0.30273	0.8994:0.0:0.1006:0.0	.	23	Q9Y4A9	O10H1_HUMAN	H	23	ENSP00000335596:L23H	ENSP00000335596:L23H	L	-	2	0	OR10H1	15779780	0.026000	0.19158	0.067000	0.19924	0.007000	0.05969	1.737000	0.38197	0.588000	0.29660	0.523000	0.50628	CTC		0.592	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
CYP4F2	8529	broad.mit.edu	37	19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15989717G>A	ENST00000221700.6	-	13	1522	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.A476V(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672																																					p.A476V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427T	19						.						48.0	46.0	46.0					19																	15989717		2203	4300	6503	15850717	SO:0001583	missense	8529	exon13			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1427C>T	19.37:g.15989717G>A	ENSP00000221700:p.Ala476Val	Somatic		Capture	Illumina HiSeq	Phase_I	15850717	NM_001082		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	8.574	0.880710	0.17467	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.65916	-0.18	2.62	-3.98	0.04082	.	0.000000	0.64402	U	0.000006	T	0.41719	0.1171	L	0.37897	1.145	0.21020	N	0.999801	B	0.23128	0.08	B	0.30782	0.12	T	0.21245	-1.0251	10	0.42905	T	0.14	.	1.7186	0.02907	0.1251:0.1576:0.3779:0.3394	.	476	P78329	CP4F2_HUMAN	V	476;327	ENSP00000221700:A476V	ENSP00000221700:A476V	A	-	2	0	CYP4F2	15850717	0.018000	0.18449	0.255000	0.24374	0.126000	0.20510	1.075000	0.30716	-0.417000	0.07461	0.484000	0.47621	GCG		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
CYP4F2	8529	broad.mit.edu	37	19	16006435	16006435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16006435C>A	ENST00000221700.6	-	3	319	c.224G>T	c.(223-225)aGa>aTa	p.R75I	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R75I(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTCAGAACTCTCATGCCCTC	0.562																																					p.R75I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224T	19						.						83.0	86.0	85.0					19																	16006435		2203	4300	6503	15867435	SO:0001583	missense	8529	exon3			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.224G>T	19.37:g.16006435C>A	ENSP00000221700:p.Arg75Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15867435	NM_001082		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	11.90	1.777287	0.31411	.	.	ENSG00000186115	ENST00000221700	D	0.95853	-3.83	3.13	-3.85	0.04243	.	0.744180	0.11308	U	0.577482	D	0.87055	0.6082	L	0.27975	0.815	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.74799	-0.3542	10	0.37606	T	0.19	.	0.9016	0.01275	0.1997:0.1878:0.1468:0.4658	.	75	P78329	CP4F2_HUMAN	I	75	ENSP00000221700:R75I	ENSP00000221700:R75I	R	-	2	0	CYP4F2	15867435	0.000000	0.05858	0.003000	0.11579	0.639000	0.38242	-2.303000	0.01135	-0.494000	0.06669	0.305000	0.20034	AGA		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
OR10H4	126541	broad.mit.edu	37	19	16060354	16060354	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16060354C>A	ENST00000322107.1	+	1	537	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F179L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ACCATTTTTTCTGTCATGTGC	0.488																																					p.F179L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C537A	19						.						258.0	231.0	240.0					19																	16060354		2203	4300	6503	15921354	SO:0001583	missense	126541	exon1			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.537C>A	19.37:g.16060354C>A	ENSP00000318834:p.Phe179Leu	Somatic		Capture	Illumina HiSeq	Phase_I	15921354	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	c	4.316	0.058006	0.08339	.	.	ENSG00000176231	ENST00000322107	T	0.00220	8.52	1.53	0.391	0.16282	GPCR, rhodopsin-like superfamily (1);	4.052120	0.01348	N	0.011819	T	0.00271	0.0008	M	0.76328	2.33	0.23739	N	0.996978	B	0.02656	0.0	B	0.06405	0.002	T	0.51505	-0.8697	10	0.54805	T	0.06	.	5.6074	0.17387	0.0:0.7993:0.0:0.2007	.	179	Q8NGA5	O10H4_HUMAN	L	179	ENSP00000318834:F179L	ENSP00000318834:F179L	F	+	3	2	OR10H4	15921354	0.096000	0.21769	0.021000	0.16686	0.006000	0.05464	0.426000	0.21363	-0.006000	0.14370	-0.373000	0.07131	TTC		0.488	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1		
CALR3	125972	broad.mit.edu	37	19	16601306	16601306	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16601306G>A	ENST00000269881.3	-	3	331	c.269C>T	c.(268-270)aCt>aTt	p.T90I	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	90	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.T90I(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						AATAACCAGAGTTTTCCCTTT	0.433																																					p.T90I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269T	19						.						169.0	161.0	164.0					19																	16601306		2203	4300	6503	16462306	SO:0001583	missense	125972	exon3			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.269C>T	19.37:g.16601306G>A	ENSP00000269881:p.Thr90Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16462306	NM_145046	D9N574|Q96LN3	Missense_Mutation	SNP	ENST00000269881.3	37	CCDS12344.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493327	0.84962	.	.	ENSG00000141979	ENST00000269881	T	0.53206	0.63	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.170973	0.51477	D	0.000093	T	0.71273	0.3320	M	0.87900	2.915	0.51233	D	0.999918	D	0.63880	0.993	P	0.59487	0.858	T	0.75880	-0.3161	10	0.72032	D	0.01	-28.6099	18.6591	0.91465	0.0:0.0:1.0:0.0	.	90	Q96L12	CALR3_HUMAN	I	90	ENSP00000269881:T90I	ENSP00000269881:T90I	T	-	2	0	CALR3	16462306	1.000000	0.71417	0.577000	0.28562	0.659000	0.38960	7.596000	0.82721	2.756000	0.94617	0.644000	0.83932	ACT		0.433	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046	
NWD1	284434	broad.mit.edu	37	19	16860402	16860402	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16860402G>A	ENST00000552788.1	+	4	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	NWD1_ENST00000524140.2_Missense_Mutation_p.E317K|NWD1_ENST00000339803.6_Missense_Mutation_p.E182K|NWD1_ENST00000379808.3_Missense_Mutation_p.E317K|NWD1_ENST00000549814.1_Missense_Mutation_p.E317K|NWD1_ENST00000523826.1_Missense_Mutation_p.E111K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	317							ATP binding (GO:0005524)	p.E317K(1)|p.E182K(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGACGCCAGGAACTCCTGGC	0.627																																					p.E317K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G949A	19						.						39.0	42.0	41.0					19																	16860402		2203	4300	6503	16721402	SO:0001583	missense	284434	exon6			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.949G>A	19.37:g.16860402G>A	ENSP00000447224:p.Glu317Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16721402	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	g	17.03	3.283355	0.59867	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.36	4.36	0.52297	.	0.329961	0.31156	N	0.008149	D	0.83308	0.5226	L	0.29908	0.895	0.44966	D	0.997983	D;D;D	0.69078	0.979;0.997;0.997	P;D;D	0.75020	0.628;0.921;0.985	D	0.85156	0.0989	10	0.59425	D	0.04	-22.7783	14.7097	0.69222	0.0:0.0:1.0:0.0	.	317;317;182	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	K	182;317;317;317;111;317;182	ENSP00000428579:E317K;ENSP00000447548:E317K;ENSP00000369136:E317K;ENSP00000428955:E111K;ENSP00000447224:E317K;ENSP00000340159:E182K	ENSP00000340159:E182K	E	+	1	0	NWD1	16721402	1.000000	0.71417	0.996000	0.52242	0.055000	0.15305	5.380000	0.66202	2.143000	0.66587	0.643000	0.83706	GAA		0.627	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
SIN3B	23309	broad.mit.edu	37	19	16963895	16963895	+	Missense_Mutation	SNP	C	C	T	rs551562375		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16963895C>T	ENST00000248054.5	+	7	886	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	SIN3B_ENST00000596802.1_Missense_Mutation_p.R289C|SIN3B_ENST00000379803.1_Missense_Mutation_p.R289C					SIN3 transcription regulator family member B									p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512																																					p.R289C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C865T	19						.						104.0	98.0	100.0					19																	16963895		2203	4300	6503	16824895	SO:0001583	missense	23309	exon7			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.865C>T	19.37:g.16963895C>T	ENSP00000248054:p.Arg289Cys	Somatic		Capture	Illumina HiSeq	Phase_I	16824895	NM_015260		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	C	9.976	1.226703	0.22542	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47177	0.85;0.85	4.89	4.89	0.63831	.	0.122807	0.56097	D	0.000028	T	0.49490	0.1560	N	0.16368	0.405	0.20873	N	0.999838	B;D;D	0.89917	0.12;0.996;1.0	B;P;D	0.63703	0.04;0.731;0.917	T	0.44802	-0.9304	10	0.49607	T	0.09	-26.3527	13.7163	0.62697	0.1544:0.8456:0.0:0.0	.	289;289;289	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	C	289	ENSP00000369131:R289C;ENSP00000248054:R289C	ENSP00000248054:R289C	R	+	1	0	SIN3B	16824895	0.865000	0.29922	0.855000	0.33649	0.206000	0.24218	1.379000	0.34340	2.266000	0.75297	0.462000	0.41574	CGT		0.512	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
SIN3B	23309	broad.mit.edu	37	19	16974595	16974595	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16974595C>T	ENST00000248054.5	+	10	1392	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	SIN3B_ENST00000379803.1_Silent_p.D489D|SIN3B_ENST00000595541.1_Silent_p.D47D					SIN3 transcription regulator family member B									p.D489D(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGTGAGGACGAGCGCTTCG	0.617																																					p.D489D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1467T	19						.						114.0	83.0	93.0					19																	16974595		2203	4300	6503	16835595	SO:0001819	synonymous_variant	23309	exon11			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1371C>T	19.37:g.16974595C>T		Somatic		Capture	Illumina HiSeq	Phase_I	16835595	NM_015260		Silent	SNP	ENST00000248054.5	37																																																																																					0.617	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
CPAMD8	27151	broad.mit.edu	37	19	17038885	17038885	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17038885C>G	ENST00000443236.1	-	25	3476	c.3445G>C	c.(3445-3447)Gcc>Ccc	p.A1149P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1102						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A1149P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGGTGAAGGCCTCGCTGTAG	0.632																																					p.A1149P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3445C	19						.						52.0	62.0	59.0					19																	17038885		1999	4166	6165	16899885	SO:0001583	missense	27151	exon25			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3445G>C	19.37:g.17038885C>G	ENSP00000402505:p.Ala1149Pro	Somatic		Capture	Illumina HiSeq	Phase_I	16899885	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609726|3.609726	0.66558|0.66558	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.02|3.02	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.64402|.	U|.	0.000011|.	T|T	0.52677|0.52677	0.1749|0.1749	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	P|.	0.59115|.	0.852|.	T|T	0.48352|0.48352	-0.9043|-0.9043	9|5	0.42905|.	T|.	0.14|.	.|.	13.9882|13.9882	0.64348|0.64348	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1102|.	Q8IZJ3|.	CPMD8_HUMAN|.	P|S	1149|1159	.|.	ENSP00000291440:A1149P|.	A|R	-|-	1|3	0|2	CPAMD8|CPAMD8	16899885|16899885	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.595000|0.595000	0.36748|0.36748	6.465000|6.465000	0.73538|0.73538	1.237000|1.237000	0.43756|0.43756	0.655000|0.655000	0.94253|0.94253	GCC|AGG		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CPAMD8	27151	broad.mit.edu	37	19	17113097	17113097	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17113097T>C	ENST00000443236.1	-	9	909	c.878A>G	c.(877-879)gAg>gGg	p.E293G	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E246G	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	246						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E293G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGTGCCTGTCTCACAGGCGTC	0.612																																					p.E293G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	19						.						24.0	25.0	24.0					19																	17113097		1892	4117	6009	16974097	SO:0001583	missense	27151	exon9			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.878A>G	19.37:g.17113097T>C	ENSP00000402505:p.Glu293Gly	Somatic		Capture	Illumina HiSeq	Phase_I	16974097	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	18.48|18.48	3.632891|3.632891	0.67015|0.67015	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.12569|.	2.67;2.67|.	2.61|2.61	2.61|2.61	0.31194|0.31194	.|.	0.614661|.	0.14205|.	U|.	0.334477|.	T|T	0.65821|0.65821	0.2728|0.2728	M|M	0.75447|0.75447	2.3|2.3	0.39477|0.39477	D|D	0.967812|0.967812	D|.	0.53151|.	0.958|.	P|.	0.47528|.	0.549|.	T|T	0.66795|0.66795	-0.5833|-0.5833	10|5	0.27082|.	T|.	0.32|.	.|.	9.9596|9.9596	0.41688|0.41688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	246|.	Q8IZJ3|.	CPMD8_HUMAN|.	G|G	293;246|304	ENSP00000291440:E293G;ENSP00000373577:E246G|.	ENSP00000291440:E293G|.	E|R	-|-	2|1	0|2	CPAMD8|CPAMD8	16974097|16974097	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.933000|0.933000	0.57130|0.57130	6.518000|6.518000	0.73764|0.73764	0.990000|0.990000	0.38787|0.38787	0.381000|0.381000	0.24937|0.24937	GAG|AGA		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
MYO9B	4650	broad.mit.edu	37	19	17264832	17264832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17264832G>T	ENST00000594824.1	+	5	1201	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000595618.1_Nonsense_Mutation_p.E352*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E352*|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	352	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.E352*(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGAGCGCCAAGAATTTCAGCT	0.473																																					p.E352X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1054T	19						.						118.0	119.0	119.0					19																	17264832		1929	4133	6062	17125832	SO:0001587	stop_gained	4650	exon5				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1054G>T	19.37:g.17264832G>T	ENSP00000471367:p.Glu352*	Somatic		Capture	Illumina HiSeq	Phase_I	17125832	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Nonsense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	38	7.093535	0.98059	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.15	5.15	0.70609	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	15.7832	0.78281	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000380444:E352X	E	+	1	0	MYO9B	17125832	1.000000	0.71417	0.907000	0.35723	0.984000	0.73092	6.465000	0.73538	2.410000	0.81850	0.561000	0.74099	GAA		0.473	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
USHBP1	83878	broad.mit.edu	37	19	17373556	17373556	+	Silent	SNP	G	G	A	rs199682499	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17373556G>A	ENST00000252597.3	-	4	620	c.447C>T	c.(445-447)ttC>ttT	p.F149F	USHBP1_ENST00000431146.2_Silent_p.F85F|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.F149F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTGTGCCTTCGAACTCCATCG	0.667													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17260	0.0		0.0	False		,,,				2504	0.0				p.F149F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T	19						.	C		1,4405		0,1,2202	56.0	56.0	56.0		447	-6.2	0.0	19		56	0,8598		0,0,4299	no	coding-synonymous	USHBP1	NM_031941.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		149/704	17373556	1,13003	2203	4299	6502	17234556	SO:0001819	synonymous_variant	83878	exon4			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.447C>T	19.37:g.17373556G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17234556	NM_031941		Silent	SNP	ENST00000252597.3	37	CCDS12353.1																																																																																				0.667	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
UNC13A	23025	broad.mit.edu	37	19	17743591	17743591	+	Splice_Site	SNP	G	G	A	rs368269623		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17743591G>A	ENST00000519716.2	-	28	3427	c.3428C>T	c.(3427-3429)gCa>gTa	p.A1143V	UNC13A_ENST00000550896.1_Splice_Site_p.A1141V|UNC13A_ENST00000551649.1_Splice_Site_p.A1143V|UNC13A_ENST00000252773.7_Splice_Site_p.A1143V|UNC13A_ENST00000552293.1_Splice_Site_p.A1143V|UNC13A_ENST00000428389.2_Splice_Site_p.A1231V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1143	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A1143V(1)|p.A1231V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGGACTTACGCAGGGTACTC	0.547																																					p.A1143V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3428T	19						.		VAL/ALA	1,4155		0,1,2077	84.0	89.0	87.0		3428	3.6	1.0	19		87	0,8430		0,0,4215	no	missense-near-splice	UNC13A	NM_001080421.2	64	0,1,6292	AA,AG,GG		0.0,0.0241,0.0079	benign	1143/1704	17743591	1,12585	2078	4215	6293	17604591	SO:0001630	splice_region_variant	23025	exon27			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3428+1C>T	19.37:g.17743591G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17604591	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	g	14.92	2.678422	0.47886	2.41E-4	0.0	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81821	-1.52;-1.54;-1.53;-1.38;-1.4;-1.54	3.63	3.63	0.41609	Munc13 homology 1 (1);	0.065208	0.64402	U	0.000011	T	0.68540	0.3012	L	0.41236	1.265	0.45403	D	0.998386	B	0.33528	0.416	B	0.21546	0.035	T	0.66866	-0.5815	9	.	.	.	.	12.7958	0.57558	0.0:0.0:1.0:0.0	.	1143	Q9UPW8	UN13A_HUMAN	V	1143;1231;1143;1143;1143;1141	ENSP00000429562:A1143V;ENSP00000400409:A1231V;ENSP00000252773:A1143V;ENSP00000447236:A1143V;ENSP00000447572:A1143V;ENSP00000446831:A1141V	.	A	-	2	0	UNC13A	17604591	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.612000	0.67681	1.585000	0.49928	0.298000	0.19748	GCA		0.547	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Missense_Mutation
UNC13A	23025	broad.mit.edu	37	19	17752275	17752275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17752275C>T	ENST00000519716.2	-	21	2562	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	UNC13A_ENST00000550896.1_Missense_Mutation_p.D853N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D855N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D855N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D855N|UNC13A_ENST00000428389.2_Missense_Mutation_p.D943N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	855					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D943N(1)|p.D855N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGTCTCATCGTAGTAAACC	0.562																																					p.D855N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2563A	19						.						121.0	124.0	123.0					19																	17752275		2183	4287	6470	17613275	SO:0001583	missense	23025	exon20			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2563G>A	19.37:g.17752275C>T	ENSP00000429562:p.Asp855Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17613275	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	16.03	3.005843	0.54254	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81330	-1.47;-1.48;-1.46;-1.33;-1.34;-1.48	3.0	3.0	0.34707	.	0.219549	0.36854	U	0.002368	T	0.70290	0.3207	L	0.58925	1.835	0.38578	D	0.950108	P	0.43750	0.816	B	0.28011	0.085	T	0.76356	-0.2989	10	0.48119	T	0.1	-12.2238	11.8562	0.52439	0.0:1.0:0.0:0.0	.	855	Q9UPW8	UN13A_HUMAN	N	855;943;855;855;855;853	ENSP00000429562:D855N;ENSP00000400409:D943N;ENSP00000252773:D855N;ENSP00000447236:D855N;ENSP00000447572:D855N;ENSP00000446831:D853N	ENSP00000252773:D855N	D	-	1	0	UNC13A	17613275	1.000000	0.71417	0.937000	0.37676	0.921000	0.55340	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	GAT		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17785522	17785522	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17785522C>T	ENST00000519716.2	-	3	95	c.96G>A	c.(94-96)aaG>aaA	p.K32K	UNC13A_ENST00000550896.1_Silent_p.K32K|UNC13A_ENST00000551649.1_Silent_p.K32K|UNC13A_ENST00000252773.7_Silent_p.K32K|UNC13A_ENST00000552293.1_Silent_p.K32K|UNC13A_ENST00000428389.2_Silent_p.K120K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	32	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.K120K(1)|p.K32K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGTCGTGCTCTTGACATTCT	0.587																																					p.K32K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G96A	19						.						125.0	124.0	124.0					19																	17785522		2112	4250	6362	17646522	SO:0001819	synonymous_variant	23025	exon3			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.96G>A	19.37:g.17785522C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17646522	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.587	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
FCHO1	23149	broad.mit.edu	37	19	17877511	17877511	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17877511C>A	ENST00000596536.1	+	7	511	c.228C>A	c.(226-228)gtC>gtA	p.V76V	FCHO1_ENST00000252771.7_Silent_p.V76V|FCHO1_ENST00000594202.1_Silent_p.V76V|FCHO1_ENST00000595033.1_Silent_p.V26V|FCHO1_ENST00000600676.1_Silent_p.V76V|FCHO1_ENST00000389133.4_Silent_p.V76V|FCHO1_ENST00000539407.1_Silent_p.V76V|FCHO1_ENST00000597512.1_Silent_p.V83V|FCHO1_ENST00000596951.1_Silent_p.V76V	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	76	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.V76V(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTCCGCGTCTCCTCGGACA	0.642																																					p.V76V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228A	19						.						51.0	43.0	45.0					19																	17877511		2203	4300	6503	17738511	SO:0001819	synonymous_variant	23149	exon6			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.228C>A	19.37:g.17877511C>A		Somatic		Capture	Illumina HiSeq	Phase_I	17738511	NM_001161358	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	CCDS32955.1																																																																																				0.642	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	
B3GNT3	10331	broad.mit.edu	37	19	17922427	17922427	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17922427C>T	ENST00000318683.6	+	3	762	c.615C>T	c.(613-615)ttC>ttT	p.F205F	B3GNT3_ENST00000595387.1_Silent_p.F205F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.F205F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACGCCAGCTTCGTGCTCAACG	0.582																																					p.F205F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615T	19						.						92.0	64.0	74.0					19																	17922427		2203	4300	6503	17783427	SO:0001819	synonymous_variant	10331	exon3			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.615C>T	19.37:g.17922427C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17783427	NM_014256	B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	CCDS12364.1																																																																																				0.582	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256	
IL12RB1	3594	broad.mit.edu	37	19	18180498	18180498	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:18180498G>A	ENST00000600835.2	-	11	1345	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	IL12RB1_ENST00000593993.2_Silent_p.V349V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	349	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.V349V(1)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CGTTGGTTCCGACGCTGATAT	0.602																																					p.V349V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	19						.						100.0	108.0	105.0					19																	18180498		2086	4203	6289	18041498	SO:0001819	synonymous_variant	3594	exon10			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1047C>T	19.37:g.18180498G>A		Somatic		Capture	Illumina HiSeq	Phase_I	18041498	NM_005535	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	CCDS54232.1																																																																																				0.602	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
UPF1	5976	broad.mit.edu	37	19	18965416	18965416	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:18965416G>A	ENST00000599848.1	+	9	1405	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	UPF1_ENST00000262803.5_Missense_Mutation_p.G388D			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	399	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G388D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACAGATTATGGCGATGAGATC	0.507																																					p.G388D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163A	19						.						181.0	185.0	183.0					19																	18965416		2203	4300	6503	18826416	SO:0001583	missense	5976	exon9			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1196G>A	19.37:g.18965416G>A	ENSP00000470142:p.Gly399Asp	Somatic		Capture	Illumina HiSeq	Phase_I	18826416	NM_002911	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	17.59	3.427538	0.62733	.	.	ENSG00000005007	ENST00000262803	D	0.89485	-2.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.71581	2.175	0.80722	D	1	P;P	0.38195	0.488;0.622	B;B	0.37144	0.054;0.242	D	0.88086	0.2810	10	0.36615	T	0.2	-27.7853	17.2984	0.87175	0.0:0.0:1.0:0.0	.	399;388	Q92900;Q92900-2	RENT1_HUMAN;.	D	388	ENSP00000262803:G388D	ENSP00000262803:G388D	G	+	2	0	UPF1	18826416	1.000000	0.71417	0.970000	0.41538	0.783000	0.44284	9.429000	0.97481	2.342000	0.79632	0.655000	0.94253	GGC		0.507	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
UPF1	5976	broad.mit.edu	37	19	18974259	18974259	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:18974259C>A	ENST00000599848.1	+	19	2855	c.2646C>A	c.(2644-2646)atC>atA	p.I882I	UPF1_ENST00000262803.5_Silent_p.I871I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	882					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I871I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATGGCGTCATCATTGTGGGCA	0.582																																					p.I871I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2613A	19						.						188.0	187.0	187.0					19																	18974259		2203	4300	6503	18835259	SO:0001819	synonymous_variant	5976	exon19			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2646C>A	19.37:g.18974259C>A		Somatic		Capture	Illumina HiSeq	Phase_I	18835259	NM_002911	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																					0.582	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
SUGP2	10147	broad.mit.edu	37	19	19141867	19141867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19141867C>T	ENST00000601879.1	-	2	311	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ARMC6_ENST00000269932.6_5'Flank|ARMC6_ENST00000392335.2_5'Flank|SUGP2_ENST00000600377.1_Missense_Mutation_p.R19Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R5Q|SUGP2_ENST00000456085.2_5'Flank|SUGP2_ENST00000452918.2_Missense_Mutation_p.R5Q|ARMC6_ENST00000546344.1_5'Flank|ARMC6_ENST00000535612.1_5'Flank|SUGP2_ENST00000598202.1_Intron			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	5					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R5Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGTGTAATTCGTCTGGCTGC	0.438																																					p.R5Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14A	19						.						230.0	211.0	218.0					19																	19141867		2203	4300	6503	19002867	SO:0001583	missense	10147	exon2			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.14G>A	19.37:g.19141867C>T	ENSP00000472286:p.Arg5Gln	Somatic		Capture	Illumina HiSeq	Phase_I	19002867	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386676	0.82902	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.17691	2.26;2.26;2.26	5.28	3.17	0.36434	.	0.000000	0.53938	D	0.000055	T	0.26304	0.0642	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	T	0.01583	-1.1319	10	0.87932	D	0	-14.176	10.8213	0.46606	0.0:0.8602:0.0:0.1398	.	5;5	A8K5G0;Q8IX01	.;SUGP2_HUMAN	Q	5	ENSP00000337926:R5Q;ENSP00000332373:R5Q;ENSP00000389380:R5Q	ENSP00000332373:R5Q	R	-	2	0	SUGP2	19002867	1.000000	0.71417	0.797000	0.32132	0.957000	0.61999	2.045000	0.41250	0.610000	0.30035	0.650000	0.86243	CGA		0.438	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
ZNF101	94039	broad.mit.edu	37	19	19790703	19790703	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19790703G>T	ENST00000592502.1	+	4	1015	c.905G>T	c.(904-906)aGa>aTa	p.R302I	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R182I			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R302I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGACATGAAAGAACTCATAGT	0.448																																					p.R302I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905T	19						.						48.0	47.0	47.0					19																	19790703		2203	4300	6503	19651703	SO:0001583	missense	94039	exon4			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.905G>T	19.37:g.19790703G>T	ENSP00000468049:p.Arg302Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19651703	NM_033204	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	3.087	-0.187824	0.06299	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.24908	1.83;1.83	0.235	-0.47	0.12131	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21347	0.0514	L	0.56769	1.78	0.19945	N	0.999949	B	0.23650	0.089	B	0.25506	0.061	T	0.29761	-1.0001	8	.	.	.	.	4.5928	0.12315	0.3165:0.0:0.6835:0.0	.	302	Q8IZC7	ZN101_HUMAN	I	302;302;182	ENSP00000319716:R302I;ENSP00000400952:R182I	.	R	+	2	0	ZNF101	19651703	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.388000	0.07352	-0.671000	0.05274	-0.657000	0.03884	AGA		0.448	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
ZNF14	7561	broad.mit.edu	37	19	19823039	19823039	+	Nonsense_Mutation	SNP	G	G	A	rs373449253		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19823039G>A	ENST00000344099.3	-	4	1189	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	351					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)	p.R351*(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCACTCGACAGGAATTA	0.383																																					p.R351X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1051T	19						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	67.0	67.0		1051	0.7	0.0	19		67	0,8600		0,0,4300	no	stop-gained	ZNF14	NM_021030.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		351/643	19823039	1,13005	2203	4300	6503	19684039	SO:0001587	stop_gained	7561	exon4			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1051C>T	19.37:g.19823039G>A	ENSP00000340514:p.Arg351*	Somatic		Capture	Illumina HiSeq	Phase_I	19684039	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703004	0.88924	2.27E-4	0.0	ENSG00000105708	ENST00000344099	.	.	.	1.86	0.688	0.18027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	7.7026	0.28632	0.0:0.2655:0.7345:0.0	.	.	.	.	X	351	.	ENSP00000340514:R351X	R	-	1	2	ZNF14	19684039	0.001000	0.12720	0.009000	0.14445	0.616000	0.37450	-0.338000	0.07842	0.100000	0.17581	-0.499000	0.04595	CGA		0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF506	440515	broad.mit.edu	37	19	19905835	19905835	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19905835A>G	ENST00000540806.2	-	4	949	c.861T>C	c.(859-861)tgT>tgC	p.C287C	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Silent_p.C287C|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Silent_p.C255C			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C287C(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CACATTTATCACACTTGTATG	0.383																																					p.C255C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T765C	19						.						47.0	51.0	50.0					19																	19905835		2197	4299	6496	19766835	SO:0001819	synonymous_variant	440515	exon3			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.861T>C	19.37:g.19905835A>G		Somatic		Capture	Illumina HiSeq	Phase_I	19766835	NM_001145404	B3KTH6	Silent	SNP	ENST00000540806.2	37	CCDS42531.1																																																																																				0.383	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
ZNF506	440515	broad.mit.edu	37	19	19906097	19906097	+	Missense_Mutation	SNP	C	C	T	rs369665225		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19906097C>T	ENST00000540806.2	-	4	687	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.R200H|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.R168H			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R200H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTATAGCGTTTCTCTCC	0.338																																					p.R168H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	19						.						53.0	58.0	56.0					19																	19906097		2161	4279	6440	19767097	SO:0001583	missense	440515	exon3			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.599G>A	19.37:g.19906097C>T	ENSP00000440625:p.Arg200His	Somatic		Capture	Illumina HiSeq	Phase_I	19767097	NM_001145404	B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	13.84	2.358024	0.41801	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.07567	3.18;3.18;3.18	0.974	-1.95	0.07548	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.12182	0.205	0.27189	N	0.960457	P;D	0.63046	0.927;0.992	B;P	0.47864	0.091;0.559	T	0.33163	-0.9879	9	0.56958	D	0.05	.	6.5027	0.22178	0.0:0.3128:0.6872:0.0	.	200;168	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	H	200;200;168	ENSP00000393835:R200H;ENSP00000440625:R200H;ENSP00000408892:R168H	ENSP00000393835:R200H	R	-	2	0	ZNF506	19767097	0.024000	0.19004	0.142000	0.22268	0.121000	0.20230	0.515000	0.22801	-0.705000	0.05035	-0.717000	0.03617	CGC		0.338	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
ZNF253	56242	broad.mit.edu	37	19	19989320	19989320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19989320G>T	ENST00000589717.1	+	2	126	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E12*(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGGCCATAGAATTCTCTCT	0.408																																					p.E12X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G34T	19						.						108.0	134.0	125.0					19																	19989320		1502	2705	4207	19850320	SO:0001587	stop_gained	56242	exon2			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.34G>T	19.37:g.19989320G>T	ENSP00000468720:p.Glu12*	Somatic		Capture	Illumina HiSeq	Phase_I	19850320	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	15.25	2.778758	0.49891	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.926	0.926	0.19430	.	.	.	.	.	.	.	.	.	.	.	0.35034	D	0.759033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	.	E	+	1	0	ZNF253	19850320	0.895000	0.30542	0.177000	0.23020	0.180000	0.23129	-0.190000	0.09615	0.308000	0.22923	0.313000	0.20887	GAA		0.408	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	
ZNF682	91120	broad.mit.edu	37	19	20117756	20117756	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:20117756G>A	ENST00000397165.2	-	4	715	c.555C>T	c.(553-555)caC>caT	p.H185H	ZNF682_ENST00000397162.1_Silent_p.H153H|ZNF682_ENST00000595736.1_Silent_p.H109H|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Silent_p.H191H|ZNF682_ENST00000358523.5_Silent_p.H153H	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H185H(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AAAGGCCTGAGTGAGATTTAA	0.328																																					p.H185H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	19						.						56.0	55.0	55.0					19																	20117756		1917	4143	6060	19978756	SO:0001819	synonymous_variant	91120	exon4			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.555C>T	19.37:g.20117756G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19978756	NM_033196	B3KU64|E9PFJ5|Q96JV9	Silent	SNP	ENST00000397165.2	37	CCDS42533.1																																																																																				0.328	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196	
ZNF85	7639	broad.mit.edu	37	19	21131985	21131985	+	Missense_Mutation	SNP	G	G	T	rs550991120		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21131985G>T	ENST00000328178.8	+	4	778	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ZNF85_ENST00000601023.1_Missense_Mutation_p.R163I|ZNF85_ENST00000345030.6_Missense_Mutation_p.R189I	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	222					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)|transcription corepressor activity (GO:0003714)	p.R222I(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAACATAAGAGAATTCATACG	0.348													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0				p.R222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665T	19						.						33.0	36.0	35.0					19																	21131985		2195	4290	6485	20923825	SO:0001583	missense	7639	exon4			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.665G>T	19.37:g.21131985G>T	ENSP00000329793:p.Arg222Ile	Somatic		Capture	Illumina HiSeq	Phase_I	20923825	NM_003429	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	6.126	0.391529	0.11581	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.24908	1.83;1.83	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26011	0.0634	L	0.61387	1.9	0.80722	D	1	B;B;B	0.21452	0.001;0.001;0.056	B;B;B	0.33295	0.004;0.001;0.161	T	0.07654	-1.0761	9	0.41790	T	0.15	.	5.5025	0.16836	0.2065:0.0:0.7935:0.0	.	189;163;222	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	I	222;189;97	ENSP00000329793:R222I;ENSP00000342340:R189I	ENSP00000329793:R222I	R	+	2	0	ZNF85	20923825	0.000000	0.05858	0.420000	0.26596	0.394000	0.30568	-0.459000	0.06728	0.675000	0.31264	0.455000	0.32223	AGA		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
ZNF430	80264	broad.mit.edu	37	19	21239872	21239872	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21239872G>T	ENST00000261560.5	+	5	939	c.758G>T	c.(757-759)aGa>aTa	p.R253I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	253					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R253I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGACACAGAAGAATTCATACT	0.358																																					p.R253I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G758T	19						.						53.0	58.0	57.0					19																	21239872		2203	4299	6502	21031712	SO:0001583	missense	80264	exon5			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.758G>T	19.37:g.21239872G>T	ENSP00000261560:p.Arg253Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21031712	NM_025189	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	1.052	-0.675483	0.03378	.	.	ENSG00000118620	ENST00000261560	T	0.24908	1.83	1.04	-0.511	0.11970	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28863	0.0716	M	0.74467	2.265	0.43852	D	0.996449	B;B	0.25743	0.018;0.133	B;B	0.35899	0.032;0.213	T	0.05099	-1.0906	9	0.31617	T	0.26	.	6.8937	0.24245	0.0:0.0:0.7246:0.2753	.	252;253	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	253	ENSP00000261560:R253I	ENSP00000261560:R253I	R	+	2	0	ZNF430	21031712	0.000000	0.05858	0.043000	0.18650	0.039000	0.13416	-1.090000	0.03372	-0.494000	0.06669	-0.493000	0.04662	AGA		0.358	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF714	148206	broad.mit.edu	37	19	21301036	21301036	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21301036C>T	ENST00000596143.1	+	5	1891	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I522I(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						gtgagcagatcgcgaggtcag	0.468																																					p.I522I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1566T	19						.						39.0	41.0	40.0					19																	21301036		2191	4296	6487	21092876	SO:0001819	synonymous_variant	148206	exon5			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1566C>T	19.37:g.21301036C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21092876	NM_182515	Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	CCDS54239.1																																																																																				0.468	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF431	170959	broad.mit.edu	37	19	21366736	21366736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21366736G>T	ENST00000311048.7	+	5	1774	c.1630G>T	c.(1630-1632)Gaa>Taa	p.E544*	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	544					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.E544*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CAACTGTGAAGAATGTGACAA	0.333																																					p.E544X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1630T	19						.						69.0	77.0	74.0					19																	21366736		2203	4300	6503	21158576	SO:0001587	stop_gained	170959	exon5			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1630G>T	19.37:g.21366736G>T	ENSP00000308578:p.Glu544*	Somatic		Capture	Illumina HiSeq	Phase_I	21158576	NM_133473	A8KAK7|Q8IWC4	Nonsense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	19.50	3.839834	0.71488	.	.	ENSG00000196705	ENST00000311048	.	.	.	0.421	0.421	0.16451	.	.	.	.	.	.	.	.	.	.	.	0.48571	D	0.999673	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	8.3187	0.32115	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000308578:E544X	E	+	1	0	ZNF431	21158576	0.003000	0.15002	0.175000	0.22980	0.164000	0.22412	0.819000	0.27308	0.452000	0.26830	0.455000	0.32223	GAA		0.333	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF708	7562	broad.mit.edu	37	19	21476131	21476131	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21476131T>C	ENST00000356929.3	-	4	1834	c.1637A>G	c.(1636-1638)aAc>aGc	p.N546S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N546S(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTTAGTAAGGTTTGGGGACTG	0.328																																					p.N546S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1637G	19						.						62.0	68.0	66.0					19																	21476131		2203	4299	6502	21267971	SO:0001583	missense	7562	exon4			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1637A>G	19.37:g.21476131T>C	ENSP00000349401:p.Asn546Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21267971	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.557417	0.00136	.	.	ENSG00000182141	ENST00000356929	T	0.03272	3.99	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.02368	-0.58	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46803	-0.9165	9	0.02654	T	1	.	7.0559	0.25099	0.0:0.0:0.0:1.0	.	546	P17019	ZN708_HUMAN	S	546	ENSP00000349401:N546S	ENSP00000349401:N546S	N	-	2	0	ZNF708	21267971	0.000000	0.05858	0.059000	0.19551	0.053000	0.15095	-4.221000	0.00271	0.408000	0.25621	0.397000	0.26171	AAC		0.328	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF708	7562	broad.mit.edu	37	19	21476269	21476269	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21476269C>T	ENST00000356929.3	-	4	1696	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G500E(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTCCAGTATGAAT	0.348																																					p.G500E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	19						.						43.0	48.0	46.0					19																	21476269		2194	4290	6484	21268109	SO:0001583	missense	7562	exon4			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1499G>A	19.37:g.21476269C>T	ENSP00000349401:p.Gly500Glu	Somatic		Capture	Illumina HiSeq	Phase_I	21268109	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	7.114	0.576635	0.13686	.	.	ENSG00000182141	ENST00000356929	T	0.01599	4.74	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	L	0.35542	1.07	0.40435	D	0.979981	D	0.55605	0.972	P	0.57960	0.83	T	0.56559	-0.7959	9	0.56958	D	0.05	.	8.9689	0.35894	0.0:1.0:0.0:0.0	.	500	P17019	ZN708_HUMAN	E	500	ENSP00000349401:G500E	ENSP00000349401:G500E	G	-	2	0	ZNF708	21268109	0.034000	0.19679	0.213000	0.23690	0.178000	0.23041	1.540000	0.36115	0.482000	0.27582	0.485000	0.47835	GGA		0.348	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF708	7562	broad.mit.edu	37	19	21477133	21477133	+	Missense_Mutation	SNP	G	G	A	rs148687204	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21477133G>A	ENST00000356929.3	-	4	832	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T212M(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CTTATGATTCGTAAGGTTTGA	0.338													G|||	4	0.000798722	0.0	0.0	5008	,	,		20391	0.001		0.001	False		,,,				2504	0.002				p.T212M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C635T	19						.	G	MET/THR	0,4400		0,0,2200	48.0	49.0	49.0		635	-0.8	0.0	19	dbSNP_134	49	13,8583		0,13,4285	no	missense	ZNF708	NM_021269.2	81	0,13,6485	AA,AG,GG		0.1512,0.0,0.1	probably-damaging	212/564	21477133	13,12983	2200	4298	6498	21268973	SO:0001583	missense	7562	exon4			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.635C>T	19.37:g.21477133G>A	ENSP00000349401:p.Thr212Met	Somatic		Capture	Illumina HiSeq	Phase_I	21268973	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	10.36	1.328174	0.24080	0.0	0.001512	ENSG00000182141	ENST00000356929	T	0.35421	1.31	1.09	-0.759	0.11045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36358	0.0964	N	0.21282	0.65	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.19353	-1.0308	9	0.56958	D	0.05	.	2.7783	0.05354	0.2136:0.0:0.5199:0.2665	.	212	P17019	ZN708_HUMAN	M	212	ENSP00000349401:T212M	ENSP00000349401:T212M	T	-	2	0	ZNF708	21268973	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.201000	0.00560	0.488000	0.27723	0.491000	0.48974	ACG		0.338	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF429	353088	broad.mit.edu	37	19	21720170	21720170	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21720170A>G	ENST00000358491.4	+	4	1523	c.1315A>G	c.(1315-1317)Aca>Gca	p.T439A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	439					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)	p.T439A(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTATTCCTCTACACTTACTAG	0.373																																					p.T439A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1315G	19						.						33.0	38.0	37.0					19																	21720170		2147	4273	6420	21512010	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1315A>G	19.37:g.21720170A>G	ENSP00000351280:p.Thr439Ala	Somatic		Capture	Illumina HiSeq	Phase_I	21512010	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.344315	0.00222	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	N	0.04669	-0.19	0.09310	N	1	B	0.31256	0.316	B	0.32342	0.144	T	0.43475	-0.9389	9	0.09084	T	0.74	.	2.1872	0.03890	0.4975:0.2502:0.0:0.2523	.	439	Q86V71	ZN429_HUMAN	A	439	ENSP00000351280:T439A	ENSP00000351280:T439A	T	+	1	0	ZNF429	21512010	0.000000	0.05858	0.500000	0.27589	0.501000	0.33797	-5.409000	0.00124	0.156000	0.19299	0.155000	0.16302	ACA		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF43	7594	broad.mit.edu	37	19	21990769	21990769	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21990769G>T	ENST00000354959.4	-	4	2239	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF43_ENST00000595461.1_Silent_p.S684S|ZNF43_ENST00000598381.1_Silent_p.S684S|ZNF43_ENST00000594012.1_Silent_p.S684S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	690					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)	p.S690S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAGGGTTGAGGACAGTTTAA	0.368																																					p.S690S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2070A	19						.						47.0	51.0	50.0					19																	21990769		2173	4282	6455	21782609	SO:0001819	synonymous_variant	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2070C>A	19.37:g.21990769G>T		Somatic		Capture	Illumina HiSeq	Phase_I	21782609	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF43	7594	broad.mit.edu	37	19	21991702	21991702	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21991702A>G	ENST00000354959.4	-	4	1306	c.1137T>C	c.(1135-1137)ttT>ttC	p.F379F	ZNF43_ENST00000595461.1_Silent_p.F373F|ZNF43_ENST00000598381.1_Silent_p.F373F|ZNF43_ENST00000594012.1_Silent_p.F373F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	379					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)	p.F379F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCGGCTAAAAGCTTCAC	0.368																																					p.F379F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1137C	19						.						62.0	63.0	63.0					19																	21991702		2203	4300	6503	21783542	SO:0001819	synonymous_variant	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1137T>C	19.37:g.21991702A>G		Somatic		Capture	Illumina HiSeq	Phase_I	21783542	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF43	7594	broad.mit.edu	37	19	21992504	21992504	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21992504A>G	ENST00000354959.4	-	4	504	c.335T>C	c.(334-336)gTa>gCa	p.V112A	ZNF43_ENST00000595461.1_Missense_Mutation_p.V106A|ZNF43_ENST00000598381.1_Missense_Mutation_p.V106A|ZNF43_ENST00000594012.1_Missense_Mutation_p.V106A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	112					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)	p.V112A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTTAAATGTACATTTTTATG	0.358																																					p.V112A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T335C	19						.						74.0	75.0	75.0					19																	21992504		2203	4294	6497	21784344	SO:0001583	missense	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.335T>C	19.37:g.21992504A>G	ENSP00000347045:p.Val112Ala	Somatic		Capture	Illumina HiSeq	Phase_I	21784344	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	4.548	0.101672	0.08731	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05081	3.5	0.916	-1.83	0.07833	.	.	.	.	.	T	0.04227	0.0117	L	0.31476	0.935	0.09310	N	1	B	0.25609	0.13	B	0.18263	0.021	T	0.39099	-0.9630	9	0.39692	T	0.17	.	5.3171	0.15862	0.6332:0.0:0.3668:0.0	.	112	P17038	ZNF43_HUMAN	A	111;112	ENSP00000347045:V112A	ENSP00000347045:V112A	V	-	2	0	ZNF43	21784344	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	0.385000	0.20685	-0.759000	0.04684	-0.756000	0.03474	GTA		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF208	7757	broad.mit.edu	37	19	22155196	22155196	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22155196C>A	ENST00000397126.4	-	4	2788	c.2640G>T	c.(2638-2640)aaG>aaT	p.K880N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	880					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K780N(2)|p.K880N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGAATTTTCTTATGATAAC	0.368																																					p.K880N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2640T	19						.						41.0	44.0	43.0					19																	22155196		2044	4204	6248	21947036	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2640G>T	19.37:g.22155196C>A	ENSP00000380315:p.Lys880Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21947036	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029634	0.35797	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.18657	2.2	2.58	-0.131	0.13494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14476	-1.0471	8	0.56958	D	0.05	.	2.692	0.05123	0.2214:0.4936:0.0:0.285	.	780	O43345	ZN208_HUMAN	N	880;780	ENSP00000380315:K880N	ENSP00000380315:K880N	K	-	3	2	ZNF208	21947036	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.955000	0.03869	0.107000	0.17824	0.289000	0.19496	AAG		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22156015	22156015	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22156015T>A	ENST00000397126.4	-	4	1969	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K507N(2)|p.K607N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCACCAG	0.368																																					p.K607N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1821T	19						.						56.0	59.0	58.0					19																	22156015		2094	4239	6333	21947855	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1821A>T	19.37:g.22156015T>A	ENSP00000380315:p.Lys607Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21947855	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	9.170	1.020974	0.19433	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26067	1.76	2.8	-0.903	0.10534	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37320	0.0999	.	.	.	0.27549	N	0.950566	D	0.67145	0.996	P	0.61874	0.895	T	0.24404	-1.0161	8	0.87932	D	0	.	4.3509	0.11155	0.0:0.4768:0.216:0.3071	.	507	O43345	ZN208_HUMAN	N	607;507	ENSP00000380315:K607N	ENSP00000380315:K607N	K	-	3	2	ZNF208	21947855	0.000000	0.05858	0.012000	0.15200	0.005000	0.04900	-1.353000	0.02617	-0.385000	0.07833	-0.850000	0.03035	AAA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF257	113835	broad.mit.edu	37	19	22271121	22271121	+	Missense_Mutation	SNP	G	G	A	rs115518618	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22271121G>A	ENST00000594947.1	+	4	713	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R190Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAACTAACTCGACATAAGAGA	0.343													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		19090	0.0		0.0	False		,,,				2504	0.0				p.R190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	19						.	G	GLN/ARG	45,4357	46.7+/-81.2	0,45,2156	41.0	43.0	43.0		569	-2.2	0.0	19	dbSNP_132	43	0,8594		0,0,4297	no	missense	ZNF257	NM_033468.2	43	0,45,6453	AA,AG,GG		0.0,1.0223,0.3463	benign	190/564	22271121	45,12951	2201	4297	6498	22062961	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.569G>A	19.37:g.22271121G>A	ENSP00000470209:p.Arg190Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22062961	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	0	-2.840023	0.00068	0.010223	0.0	ENSG00000197134	ENST00000435820	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	N	0.20304	0.555	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	8	0.02654	T	1	.	1.2287	0.01939	0.2116:0.2866:0.3431:0.1588	.	190	Q9Y2Q1	ZN257_HUMAN	Q	190	.	ENSP00000406147:R190Q	R	+	2	0	ZNF257	22062961	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.159000	0.00578	-1.553000	0.01702	-1.786000	0.00637	CGA		0.343	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22271550	22271550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22271550G>A	ENST00000594947.1	+	4	1142	c.998G>A	c.(997-999)cGa>cAa	p.R333Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R333Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCCTTACTCGACATAAGATG	0.408																																					p.R333Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	19						.						49.0	52.0	51.0					19																	22271550		2169	4280	6449	22063390	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.998G>A	19.37:g.22271550G>A	ENSP00000470209:p.Arg333Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22063390	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.942035	0.02322	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	N	0.10685	0.025	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.27434	-1.0074	8	0.06236	T	0.91	.	0.8334	0.01135	0.2426:0.1931:0.3717:0.1925	.	333	Q9Y2Q1	ZN257_HUMAN	Q	333;305	.	ENSP00000380312:R305Q	R	+	2	0	ZNF257	22063390	0.000000	0.05858	0.024000	0.17045	0.025000	0.11179	-7.141000	0.00043	-0.628000	0.05582	-0.657000	0.03884	CGA		0.408	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22271817	22271817	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22271817A>C	ENST00000594947.1	+	4	1409	c.1265A>C	c.(1264-1266)aAg>aCg	p.K422T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K422T(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTCAGCATAAGATAATTCAT	0.373																																					p.K422T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1265C	19						.						44.0	51.0	49.0					19																	22271817		2099	4246	6345	22063657	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1265A>C	19.37:g.22271817A>C	ENSP00000470209:p.Lys422Thr	Somatic		Capture	Illumina HiSeq	Phase_I	22063657	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	6.321	0.427273	0.11987	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.41	0.193	0.15139	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	L	0.31157	0.91	0.22213	N	0.999282	D	0.58620	0.983	P	0.57152	0.814	T	0.19451	-1.0305	8	0.87932	D	0	.	5.1064	0.14787	0.8139:0.0:0.1861:0.0	.	422	Q9Y2Q1	ZN257_HUMAN	T	422;394	.	ENSP00000380312:K394T	K	+	2	0	ZNF257	22063657	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.267000	0.18552	-0.174000	0.10743	0.260000	0.18958	AAG		0.373	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22272165	22272165	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22272165C>T	ENST00000594947.1	+	4	1757	c.1613C>T	c.(1612-1614)gCt>gTt	p.A538V		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A538V(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAATTCATGCTGGAGAGAAC	0.363																																					p.A538V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613T	19						.						27.0	31.0	30.0					19																	22272165		2115	4257	6372	22064005	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1613C>T	19.37:g.22272165C>T	ENSP00000470209:p.Ala538Val	Somatic		Capture	Illumina HiSeq	Phase_I	22064005	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694541	0.30052	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.33	0.12683	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.37750	1.13	0.24087	N	0.995928	B	0.12630	0.006	B	0.17979	0.02	T	0.28554	-1.0040	8	0.87932	D	0	.	7.7228	0.28742	0.0:0.7363:0.2637:0.0	.	538	Q9Y2Q1	ZN257_HUMAN	V	538;510	.	ENSP00000380312:A510V	A	+	2	0	ZNF257	22064005	0.002000	0.14202	0.014000	0.15608	0.049000	0.14656	0.359000	0.20233	-0.423000	0.07394	-0.802000	0.03209	GCT		0.363	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF676	163223	broad.mit.edu	37	19	22363047	22363047	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22363047A>G	ENST00000397121.2	-	3	1789	c.1472T>C	c.(1471-1473)aTc>aCc	p.I491T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I491T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTAGTAAGGATTGAGAACGT	0.398																																					p.I491T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1472C	19						.						78.0	83.0	81.0					19																	22363047		2161	4274	6435	22154887	SO:0001583	missense	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1472T>C	19.37:g.22363047A>G	ENSP00000380310:p.Ile491Thr	Somatic		Capture	Illumina HiSeq	Phase_I	22154887	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.058	-1.230969	0.01518	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12774	0.0310	N	0.04655	-0.195	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32508	-0.9904	9	0.08599	T	0.76	.	3.9023	0.09167	0.4749:0.0:0.5251:0.0	.	491	Q8N7Q3	ZN676_HUMAN	T	491	ENSP00000380310:I491T	ENSP00000380310:I491T	I	-	2	0	ZNF676	22154887	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-4.764000	0.00188	0.156000	0.19299	0.155000	0.16302	ATC		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	broad.mit.edu	37	19	22363812	22363812	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22363812C>T	ENST00000397121.2	-	3	1024	c.707G>A	c.(706-708)cGa>cAa	p.R236Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R236Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GATTGAGGATCGATTAAAAGC	0.363																																					p.R236Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707A	19						.																																			22155652	SO:0001583	missense	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.707G>A	19.37:g.22363812C>T	ENSP00000380310:p.Arg236Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22155652	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.076184	0.00375	.	.	ENSG00000196109	ENST00000397121	T	0.35973	1.28	0.85	-0.442	0.12253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15003	0.0362	N	0.17379	0.485	0.09310	N	1	B	0.18863	0.031	B	0.06405	0.002	T	0.31668	-0.9935	9	0.02654	T	1	.	4.5685	0.12198	0.0:0.5185:0.0:0.4815	.	236	Q8N7Q3	ZN676_HUMAN	Q	236	ENSP00000380310:R236Q	ENSP00000380310:R236Q	R	-	2	0	ZNF676	22155652	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-6.422000	0.00066	0.192000	0.20272	0.195000	0.17529	CGA		0.363	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	broad.mit.edu	37	19	22375866	22375866	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22375866T>G	ENST00000397121.2	-	2	399	c.82A>C	c.(82-84)Aaa>Caa	p.K28Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K28Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGGGCTCTTTTCCTTGCTCC	0.408																																					p.K28Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A82C	19						.						100.0	120.0	113.0					19																	22375866		1511	2709	4220	22167706	SO:0001583	missense	163223	exon2			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.82A>C	19.37:g.22375866T>G	ENSP00000380310:p.Lys28Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22167706	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.020991	0.35606	.	.	ENSG00000196109	ENST00000397121	T	0.09073	3.02	0.784	-0.55	0.11825	Krueppel-associated box (3);	.	.	.	.	T	0.14227	0.0344	L	0.60012	1.86	0.20403	N	0.999909	P	0.51653	0.947	P	0.55965	0.788	T	0.16928	-1.0386	9	0.87932	D	0	.	2.6273	0.04933	0.0:0.474:0.0:0.526	.	28	Q8N7Q3	ZN676_HUMAN	Q	28	ENSP00000380310:K28Q	ENSP00000380310:K28Q	K	-	1	0	ZNF676	22167706	0.708000	0.27876	0.645000	0.29479	0.647000	0.38526	-0.075000	0.11431	0.156000	0.19299	0.155000	0.16302	AAA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF98	148198	broad.mit.edu	37	19	22574507	22574507	+	Missense_Mutation	SNP	C	C	A	rs200235405		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22574507C>A	ENST00000357774.5	-	4	1651	c.1530G>T	c.(1528-1530)atG>atT	p.M510I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M510I(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGTATGAATCATCTTATGTG	0.383																																					p.M510I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1530T	19						.						60.0	52.0	55.0					19																	22574507		2180	4281	6461	22366347	SO:0001583	missense	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1530G>T	19.37:g.22574507C>A	ENSP00000350418:p.Met510Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22366347	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.033	-1.319712	0.01320	.	.	ENSG00000197360	ENST00000357774	T	0.16897	2.31	1.26	0.0688	0.14371	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	9	0.25106	T	0.35	.	5.1552	0.15031	0.0:0.1831:0.0:0.8169	.	510	A6NK75	ZNF98_HUMAN	I	510	ENSP00000350418:M510I	ENSP00000350418:M510I	M	-	3	0	ZNF98	22366347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.480000	0.00983	-0.237000	0.09739	-0.856000	0.03024	ATG		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF98	148198	broad.mit.edu	37	19	22575348	22575348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22575348C>A	ENST00000357774.5	-	4	810	c.689G>T	c.(688-690)aGa>aTa	p.R230I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R230I(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGTATGAATTCTTTTATGTGT	0.373																																					p.R230I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G689T	19						.						9.0	10.0	10.0					19																	22575348		1813	4062	5875	22367188	SO:0001583	missense	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.689G>T	19.37:g.22575348C>A	ENSP00000350418:p.Arg230Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22367188	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	5.612	0.297621	0.10622	.	.	ENSG00000197360	ENST00000357774	T	0.02446	4.29	1.41	-1.9	0.07665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	L	0.49640	1.575	0.39804	D	0.972609	B	0.06786	0.001	B	0.12156	0.007	T	0.39035	-0.9633	9	0.34782	T	0.22	.	6.4657	0.21980	0.0:0.71:0.0:0.29	.	230	A6NK75	ZNF98_HUMAN	I	230	ENSP00000350418:R230I	ENSP00000350418:R230I	R	-	2	0	ZNF98	22367188	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-4.190000	0.00277	-0.664000	0.05324	-0.680000	0.03767	AGA		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF98	148198	broad.mit.edu	37	19	22575728	22575728	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22575728A>C	ENST00000357774.5	-	4	430	c.309T>G	c.(307-309)taT>taG	p.Y103*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y103*(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTTTTTGGAAATAATTTTTTT	0.308																																					p.Y103X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T309G	19						.						42.0	34.0	37.0					19																	22575728		1868	4125	5993	22367568	SO:0001587	stop_gained	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.309T>G	19.37:g.22575728A>C	ENSP00000350418:p.Tyr103*	Somatic		Capture	Illumina HiSeq	Phase_I	22367568	NM_001098626		Nonsense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.805019	0.31961	.	.	ENSG00000197360	ENST00000357774	.	.	.	0.916	0.916	0.19373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	5.2282	0.15406	1.0:0.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000350418:Y103X	Y	-	3	2	ZNF98	22367568	0.000000	0.05858	0.174000	0.22961	0.172000	0.22775	-1.113000	0.03296	0.257000	0.21650	0.254000	0.18369	TAT		0.308	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF492	57615	broad.mit.edu	37	19	22847541	22847541	+	Missense_Mutation	SNP	G	G	T	rs531467359	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22847541G>T	ENST00000456783.2	+	4	1314	c.1070G>T	c.(1069-1071)aGa>aTa	p.R357I	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R357I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGAGAATTCATGCT	0.383													N|||	3	0.000599042	0.0015	0.0014	5008	,	,		20632	0.0		0.0	False		,,,				2504	0.0				p.R357I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1070T	19						.						7.0	7.0	7.0					19																	22847541		1808	3967	5775	22639381	SO:0001583	missense	57615	exon4			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1070G>T	19.37:g.22847541G>T	ENSP00000413660:p.Arg357Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22639381	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	2.610	-0.290976	0.05568	.	.	ENSG00000229676	ENST00000456783	T	0.24908	1.83	1.12	-0.302	0.12796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18923	0.0454	L	0.51422	1.61	0.38858	D	0.956412	B	0.06786	0.001	B	0.15484	0.013	T	0.08554	-1.0716	9	0.37606	T	0.19	.	4.4679	0.11698	0.3584:0.0:0.6416:0.0	.	357	Q9P255	ZN492_HUMAN	I	357	ENSP00000413660:R357I	ENSP00000413660:R357I	R	+	2	0	ZNF492	22639381	0.000000	0.05858	0.244000	0.24202	0.243000	0.25628	-1.499000	0.02285	0.269000	0.21961	0.274000	0.19336	AGA		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF99	7652	broad.mit.edu	37	19	22940109	22940109	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22940109G>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.T741I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T741I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTTTCCAGTATGAATTAT	0.348																																					p.T741I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2222T	19						.						44.0	48.0	47.0					19																	22940109		2015	4211	6226	22731949	SO:0001628	intergenic_variant	7652	exon6			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940109G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22731949	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.482709	0.26598	.	.	ENSG00000213973	ENST00000397104	T	0.25749	1.78	1.14	1.14	0.20703	.	.	.	.	.	T	0.44456	0.1294	M	0.76727	2.345	0.25144	N	0.990471	D	0.76494	0.999	D	0.70227	0.968	T	0.15752	-1.0426	9	0.66056	D	0.02	.	6.1698	0.20410	0.0:0.0:0.7027:0.2973	.	741	A8MXY4	ZNF99_HUMAN	I	741	ENSP00000380293:T741I	ENSP00000380293:T741I	T	-	2	0	ZNF99	22731949	0.718000	0.27976	0.005000	0.12908	0.132000	0.20833	1.053000	0.30442	0.585000	0.29608	0.173000	0.16961	ACT		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22940791	22940791	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22940791C>A	ENST00000596209.1	-	4	2010	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E549D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E549D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCTCATGTTTTC	0.368																																					p.E549D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1647T	19						.						38.0	40.0	40.0					19																	22940791		2023	4203	6226	22732631	SO:0001583	missense	7652	exon5			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1920G>T	19.37:g.22940791C>A	ENSP00000472969:p.Glu640Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22732631	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	9.671	1.146746	0.21288	.	.	ENSG00000213973	ENST00000397104	T	0.50277	0.75	1.16	-0.589	0.11683	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40119	0.1104	L	0.41079	1.255	0.19300	N	0.999977	B	0.31730	0.337	B	0.38327	0.271	T	0.41893	-0.9483	9	0.62326	D	0.03	.	7.7497	0.28890	0.0:0.7376:0.2624:0.0	.	549	A8MXY4	ZNF99_HUMAN	D	549	ENSP00000380293:E549D	ENSP00000380293:E549D	E	-	3	2	ZNF99	22732631	0.000000	0.05858	0.006000	0.13384	0.687000	0.40016	-0.569000	0.05902	-0.342000	0.08363	0.194000	0.17425	GAG		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22941402	22941402	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22941402A>C	ENST00000596209.1	-	4	1399	c.1309T>G	c.(1309-1311)Ttc>Gtc	p.F437V	ZNF99_ENST00000397104.3_Missense_Mutation_p.F346V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F346V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGGCTGAGAAACGCTTAAAA	0.363																																					p.F346V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1036G	19						.						57.0	59.0	58.0					19																	22941402		2039	4218	6257	22733242	SO:0001583	missense	7652	exon5			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1309T>G	19.37:g.22941402A>C	ENSP00000472969:p.Phe437Val	Somatic		Capture	Illumina HiSeq	Phase_I	22733242	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	1.232	-0.623777	0.03636	.	.	ENSG00000213973	ENST00000397104	T	0.14516	2.5	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.11154	0.105	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41052	-0.9530	9	0.15066	T	0.55	.	0.7956	0.01065	0.1933:0.1659:0.1631:0.4777	.	346	A8MXY4	ZNF99_HUMAN	V	346	ENSP00000380293:F346V	ENSP00000380293:F346V	F	-	1	0	ZNF99	22733242	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.501000	0.06398	-1.316000	0.02295	0.325000	0.21440	TTC		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22941594	22941594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22941594C>A	ENST00000596209.1	-	4	1207	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.E282*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E282*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCGCATTCTTCATATTTG	0.373																																					p.E282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G844T	19						.						85.0	92.0	89.0					19																	22941594		2031	4201	6232	22733434	SO:0001587	stop_gained	7652	exon5			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1117G>T	19.37:g.22941594C>A	ENSP00000472969:p.Glu373*	Somatic		Capture	Illumina HiSeq	Phase_I	22733434	NM_001080409	M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	11.19	1.566079	0.27915	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.12	-0.654	0.11443	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.2086	0.20615	0.0:0.6846:0.3154:0.0	.	.	.	.	X	282	.	ENSP00000380293:E282X	E	-	1	0	ZNF99	22733434	0.000000	0.05858	0.015000	0.15790	0.025000	0.11179	-0.819000	0.04462	0.552000	0.29026	0.395000	0.25975	GAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22942314	22942314	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:22942314G>T	ENST00000596209.1	-	4	487	c.397C>A	c.(397-399)Ctt>Att	p.L133I	ZNF99_ENST00000397104.3_Missense_Mutation_p.L154I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L154I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTGGTTAAGTTTATTATAA	0.299																																					p.L154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	19						.						96.0	92.0	93.0					19																	22942314		1864	4095	5959	22734154	SO:0001583	missense	7652	exon4			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.397C>A	19.37:g.22942314G>T	ENSP00000472969:p.Leu133Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22734154	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.582432	0.00879	.	.	ENSG00000213973	ENST00000397104	T	0.07216	3.21	1.18	-2.35	0.06684	.	.	.	.	.	T	0.06735	0.0172	M	0.67569	2.06	0.09310	N	1	B	0.34181	0.44	B	0.31547	0.132	T	0.37526	-0.9702	9	0.16420	T	0.52	.	1.023	0.01522	0.1942:0.206:0.3937:0.2061	.	154	A8MXY4	ZNF99_HUMAN	I	154	ENSP00000380293:L154I	ENSP00000380293:L154I	L	-	1	0	ZNF99	22734154	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.033000	0.13754	-1.219000	0.02597	-0.924000	0.02725	CTT		0.299	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF91	7644	broad.mit.edu	37	19	23542572	23542572	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:23542572C>A	ENST00000300619.7	-	4	3414	c.3209G>T	c.(3208-3210)aGa>aTa	p.R1070I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R1038I|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1070					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1070I(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTCC	0.383																																					p.R1070I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3209T	19						.						70.0	76.0	74.0					19																	23542572		2160	4282	6442	23334412	SO:0001583	missense	7644	exon4			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3209G>T	19.37:g.23542572C>A	ENSP00000300619:p.Arg1070Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23334412	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663477	0.29515	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.02446	4.29;4.29	1.49	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	M	0.64997	1.995	0.30800	N	0.739976	B;B	0.27997	0.197;0.092	B;B	0.25140	0.058;0.046	T	0.04664	-1.0935	9	0.52906	T	0.07	.	9.936	0.41552	0.0:1.0:0.0:0.0	.	1038;1070	Q05481-2;Q05481	.;ZNF91_HUMAN	I	1070;1038	ENSP00000300619:R1070I;ENSP00000380272:R1038I	ENSP00000300619:R1070I	R	-	2	0	ZNF91	23334412	0.000000	0.05858	0.024000	0.17045	0.574000	0.36063	-1.970000	0.01504	0.793000	0.33875	0.196000	0.17591	AGA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF91	7644	broad.mit.edu	37	19	23544989	23544989	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:23544989T>G	ENST00000300619.7	-	4	997	c.792A>C	c.(790-792)aaA>aaC	p.K264N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K232N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	264					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K264N(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACTTGTAGATTTTCTCTTTAG	0.378																																					p.K264N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A792C	19						.						114.0	126.0	122.0					19																	23544989		2190	4298	6488	23336829	SO:0001583	missense	7644	exon4			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.792A>C	19.37:g.23544989T>G	ENSP00000300619:p.Lys264Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23336829	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	9.890	1.204000	0.22205	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.96	-0.708	0.11241	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25754	0.0627	M	0.86864	2.845	0.09310	N	1	D;D	0.76494	0.999;0.995	D;P	0.67900	0.954;0.75	T	0.05517	-1.0880	9	0.56958	D	0.05	.	6.0892	0.19985	0.0:0.2633:0.0:0.7367	.	232;264	Q05481-2;Q05481	.;ZNF91_HUMAN	N	264;232	ENSP00000300619:K264N;ENSP00000380272:K232N	ENSP00000300619:K264N	K	-	3	2	ZNF91	23336829	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.473000	0.06871	0.317000	0.21355	AAA		0.378	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF675	171392	broad.mit.edu	37	19	23836537	23836537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:23836537C>A	ENST00000359788.4	-	4	1366	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	400					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E400*(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTGCCACATTCTTTACATTTG	0.398																																					p.E400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1198T	19						.						62.0	63.0	63.0					19																	23836537		2203	4300	6503	23628377	SO:0001587	stop_gained	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1198G>T	19.37:g.23836537C>A	ENSP00000352836:p.Glu400*	Somatic		Capture	Illumina HiSeq	Phase_I	23628377	NM_138330	Q8N211	Nonsense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.511106	0.44660	.	.	ENSG00000197372	ENST00000359788	.	.	.	0.458	-0.916	0.10489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.3832	0.21546	0.29:0.71:0.0:0.0	.	.	.	.	X	400	.	ENSP00000352836:E400X	E	-	1	0	ZNF675	23628377	0.000000	0.05858	0.021000	0.16686	0.018000	0.09664	-0.369000	0.07533	-0.504000	0.06577	-0.516000	0.04426	GAA		0.398	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
ZNF675	171392	broad.mit.edu	37	19	23837135	23837135	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:23837135G>A	ENST00000359788.4	-	4	768	c.600C>T	c.(598-600)tgC>tgT	p.C200C	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	200				Missing (in Ref. 2; BAC04216). {ECO:0000305}.	bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C200C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTCACATTTGCAGAAATTCA	0.318																																					p.C200C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600T	19						.						41.0	40.0	40.0					19																	23837135		2201	4298	6499	23628975	SO:0001819	synonymous_variant	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.600C>T	19.37:g.23837135G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23628975	NM_138330	Q8N211	Silent	SNP	ENST00000359788.4	37	CCDS32981.1																																																																																				0.318	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
GNG7	2788	broad.mit.edu	37	19	2515025	2515025	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:2515025A>C	ENST00000382159.3	-	5	399	c.202T>G	c.(202-204)Tta>Gta	p.L68V		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	68					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.L68V(1)		central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGTTATAAAATAATACAA	0.483																																					p.L68V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T202G	19						.						61.0	67.0	65.0					19																	2515025		2203	4300	6503	2466025	SO:0001583	missense	2788	exon5			AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.202T>G	19.37:g.2515025A>C	ENSP00000371594:p.Leu68Val	Somatic		Capture	Illumina HiSeq	Phase_I	2466025	NM_052847	B2R496	Missense_Mutation	SNP	ENST00000382159.3	37	CCDS12091.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875849	0.72180	.	.	ENSG00000176533	ENST00000382159	T	0.29142	1.58	4.16	3.11	0.35812	G-protein gamma domain (2);	0.000000	0.52532	U	0.000076	T	0.47600	0.1454	.	.	.	0.49299	D	0.999776	D	0.69078	0.997	P	0.62740	0.906	T	0.46048	-0.9219	9	0.87932	D	0	-12.2523	7.1543	0.25628	0.2177:0.0:0.7823:0.0	.	68	O60262	GBG7_HUMAN	V	68	ENSP00000371594:L68V	ENSP00000371594:L68V	L	-	1	2	GNG7	2466025	0.999000	0.42202	0.007000	0.13788	0.625000	0.37756	2.923000	0.48868	0.830000	0.34757	-0.366000	0.07423	TTA		0.483	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	NM_052847	
GNA15	2769	broad.mit.edu	37	19	3155875	3155875	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:3155875C>T	ENST00000262958.3	+	5	927	c.669C>T	c.(667-669)ttC>ttT	p.F223F	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	223					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.F223F(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCCATTGTTTCGAGAACGTGA	0.597																																					p.F223F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C669T	19						.						190.0	148.0	162.0					19																	3155875		2203	4300	6503	3106875	SO:0001819	synonymous_variant	2769	exon5				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.669C>T	19.37:g.3155875C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3106875	NM_002068	E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	ENST00000262958.3	37	CCDS12104.1																																																																																				0.597	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068	
ZNF681	148213	broad.mit.edu	37	19	23937668	23937668	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:23937668C>T	ENST00000402377.3	-	3	324	c.183G>A	c.(181-183)gaG>gaA	p.E61E	ZNF681_ENST00000395385.3_5'UTR	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.E61E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGTCCAAGGCTCTTTTTCTT	0.398																																					p.E61E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G183A	19						.						125.0	119.0	121.0					19																	23937668		2203	4300	6503	23729508	SO:0001819	synonymous_variant	148213	exon3			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.183G>A	19.37:g.23937668C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23729508	NM_138286	B3KVF7	Silent	SNP	ENST00000402377.3	37	CCDS12414.2																																																																																				0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
DOHH	83475	broad.mit.edu	37	19	3496671	3496671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:3496671C>T	ENST00000427575.1	-	2	593	c.142G>A	c.(142-144)Gat>Aat	p.D48N	DOHH_ENST00000250937.3_Missense_Mutation_p.D48N	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase									p.D48N(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATCGTCATCGAAGGCCTGG	0.682																																					p.D48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	19						.						50.0	45.0	47.0					19																	3496671		2203	4299	6502	3447671	SO:0001583	missense	83475	exon2			BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.142G>A	19.37:g.3496671C>T	ENSP00000398882:p.Asp48Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3447671	NM_031304		Missense_Mutation	SNP	ENST00000427575.1	37	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692168	0.03303	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	T;T	0.16457	2.34;2.34	4.28	-7.73	0.01245	Armadillo-like helical (1);	1.780400	0.02682	N	0.109808	T	0.09158	0.0226	N	0.11364	0.135	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18935	-1.0321	10	0.19147	T	0.46	0.9822	13.5692	0.61836	0.0:0.7395:0.1104:0.1501	.	48	Q9BU89	DOHH_HUMAN	N	48	ENSP00000398882:D48N;ENSP00000250937:D48N	ENSP00000250937:D48N	D	-	1	0	DOHH	3447671	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-1.552000	0.02176	-1.970000	0.01003	-1.267000	0.01435	GAT		0.682	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304	
UQCRFS1	7386	broad.mit.edu	37	19	29698465	29698465	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:29698465A>G	ENST00000304863.4	-	2	1237	c.815T>C	c.(814-816)aTt>aCt	p.I272T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	272	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.I272T(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTAACCAACAATCACCATATC	0.458																																					p.I272T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T815C	19						.						64.0	59.0	61.0					19																	29698465		2203	4300	6503	34390305	SO:0001583	missense	7386	exon2			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.815T>C	19.37:g.29698465A>G	ENSP00000306397:p.Ile272Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34390305	NM_006003	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	A	8.672	0.903123	0.17760	.	.	ENSG00000169021	ENST00000304863	T	0.47177	0.85	5.0	5.0	0.66597	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.700421	0.14565	N	0.311840	T	0.46541	0.1398	L	0.54908	1.71	0.25142	N	0.990499	B	0.12013	0.005	B	0.15870	0.014	T	0.45991	-0.9223	10	0.87932	D	0	.	13.8788	0.63670	1.0:0.0:0.0:0.0	.	272	P47985	UCRI_HUMAN	T	272	ENSP00000306397:I272T	ENSP00000306397:I272T	I	-	2	0	UQCRFS1	34390305	0.869000	0.29996	0.241000	0.24154	0.003000	0.03518	6.892000	0.75644	1.870000	0.54199	0.459000	0.35465	ATT		0.458	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
TSHZ3	57616	broad.mit.edu	37	19	31768632	31768632	+	Missense_Mutation	SNP	C	C	A	rs146715477	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:31768632C>A	ENST00000240587.4	-	2	2394	c.2067G>T	c.(2065-2067)gaG>gaT	p.E689D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	689					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E506D(1)|p.E689D(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTGCCATTCTCCACCGGCT	0.637																																					p.E689D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2067T	19						.						44.0	45.0	44.0					19																	31768632		2203	4300	6503	36460472	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2067G>T	19.37:g.31768632C>A	ENSP00000240587:p.Glu689Asp	Somatic		Capture	Illumina HiSeq	Phase_I	36460472	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064892	0.20067	.	.	ENSG00000121297	ENST00000240587	T	0.39406	1.08	5.5	4.47	0.54385	.	0.101900	0.64402	D	0.000003	T	0.38746	0.1052	L	0.47716	1.5	0.58432	D	0.999993	P	0.49961	0.93	P	0.48627	0.584	T	0.14755	-1.0461	10	0.24483	T	0.36	-31.9835	6.8362	0.23937	0.0:0.7029:0.0:0.2971	.	689	Q63HK5	TSH3_HUMAN	D	689	ENSP00000240587:E689D	ENSP00000240587:E689D	E	-	3	2	TSHZ3	36460472	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.580000	0.53907	1.314000	0.45095	-0.143000	0.13931	GAG		0.637	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	broad.mit.edu	37	19	31769447	31769447	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:31769447C>T	ENST00000240587.4	-	2	1579	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	418					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A235T(1)|p.A418T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTTCATAGCAGAGTTGGTG	0.572																																					p.A418T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1252A	19						.						129.0	120.0	123.0					19																	31769447		2203	4300	6503	36461287	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1252G>A	19.37:g.31769447C>T	ENSP00000240587:p.Ala418Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36461287	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218670	0.79464	.	.	ENSG00000121297	ENST00000240587	T	0.20463	2.07	5.46	5.46	0.80206	.	0.050854	0.85682	D	0.000000	T	0.34832	0.0911	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.24764	-1.0151	10	0.72032	D	0.01	-35.1839	19.3123	0.94195	0.0:1.0:0.0:0.0	.	418	Q63HK5	TSH3_HUMAN	T	418	ENSP00000240587:A418T	ENSP00000240587:A418T	A	-	1	0	TSHZ3	36461287	1.000000	0.71417	0.989000	0.46669	0.885000	0.51271	7.461000	0.80834	2.548000	0.85928	0.655000	0.94253	GCT		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537																																					p.A314T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G940A	19						.						88.0	89.0	89.0					19																	31769759		2203	4300	6503	36461599	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.940G>A	19.37:g.31769759C>T	ENSP00000240587:p.Ala314Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36461599	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000121297	ENST00000240587	T	0.11821	2.74	5.46	3.34	0.38264	.	0.108055	0.64402	N	0.000007	T	0.07324	0.0185	N	0.16790	0.44	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14587	-1.0467	10	0.07325	T	0.83	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	T	314	ENSP00000240587:A314T	ENSP00000240587:A314T	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC		0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	broad.mit.edu	37	19	31770085	31770085	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:31770085C>T	ENST00000240587.4	-	2	941	c.614G>A	c.(613-615)gGc>gAc	p.G205D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	205					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G205D(1)|p.G22D(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAAGATGGAGCCATAGAGCTT	0.617																																					p.G205D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G614A	19						.						76.0	70.0	72.0					19																	31770085		2203	4300	6503	36461925	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.614G>A	19.37:g.31770085C>T	ENSP00000240587:p.Gly205Asp	Somatic		Capture	Illumina HiSeq	Phase_I	36461925	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295826	0.81025	.	.	ENSG00000121297	ENST00000240587	T	0.13307	2.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	T	0.18871	-1.0323	10	0.72032	D	0.01	-34.0731	19.2151	0.93774	0.0:1.0:0.0:0.0	.	205	Q63HK5	TSH3_HUMAN	D	205	ENSP00000240587:G205D	ENSP00000240587:G205D	G	-	2	0	TSHZ3	36461925	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.509000	0.84616	0.655000	0.94253	GGC		0.617	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
ZNF507	22847	broad.mit.edu	37	19	32845370	32845370	+	Missense_Mutation	SNP	C	C	T	rs146402867	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:32845370C>T	ENST00000311921.4	+	2	1826	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	ZNF507_ENST00000544431.1_Missense_Mutation_p.S545L|ZNF507_ENST00000355898.5_Missense_Mutation_p.S545L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S545L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATGATGTCGCCACTTAAA	0.443													C|||	4	0.000798722	0.0	0.0	5008	,	,		20784	0.004		0.0	False		,,,				2504	0.0				p.S545L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1634T	19						.						74.0	77.0	76.0					19																	32845370		2203	4300	6503	37537210	SO:0001583	missense	22847	exon3			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1634C>T	19.37:g.32845370C>T	ENSP00000312277:p.Ser545Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37537210	NM_001136156	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	CCDS32985.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.42	3.385557	0.61956	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07567	3.48;3.48;3.18	5.79	5.79	0.91817	.	0.166320	0.53938	D	0.000056	T	0.19685	0.0473	M	0.64997	1.995	0.32616	N	0.524006	B;D	0.89917	0.193;1.0	B;D	0.67900	0.013;0.954	T	0.01829	-1.1265	10	0.28530	T	0.3	.	20.0474	0.97616	0.0:1.0:0.0:0.0	.	545;545	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	L	545	ENSP00000348162:S545L;ENSP00000312277:S545L;ENSP00000441549:S545L	ENSP00000312277:S545L	S	+	2	0	ZNF507	37537210	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.673000	0.68109	2.722000	0.93159	0.655000	0.94253	TCG		0.443	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910	
SLC7A9	11136	broad.mit.edu	37	19	33324145	33324145	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:33324145A>G	ENST00000023064.4	-	12	1500	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	CTD-2085J24.3_ENST00000590069.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.Y437H|SLC7A9_ENST00000590341.1_Missense_Mutation_p.Y437H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	437					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.Y437H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGTAGAGGTACTCCCAGGTG	0.448																																					p.Y437H	GBM(181;1335 2108 9644 44178 46689)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1309C	19						.						91.0	93.0	92.0					19																	33324145		2203	4300	6503	38015985	SO:0001583	missense	11136	exon12			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1309T>C	19.37:g.33324145A>G	ENSP00000023064:p.Tyr437His	Somatic		Capture	Illumina HiSeq	Phase_I	38015985	NM_001126335	B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114312	0.56505	.	.	ENSG00000021488	ENST00000023064	D	0.89617	-2.54	5.62	5.62	0.85841	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.92404	0.5932	10	0.20046	T	0.44	.	15.5153	0.75818	1.0:0.0:0.0:0.0	.	437;437	Q53FY4;P82251	.;BAT1_HUMAN	H	437	ENSP00000023064:Y437H	ENSP00000023064:Y437H	Y	-	1	0	SLC7A9	38015985	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	8.704000	0.91351	2.141000	0.66446	0.528000	0.53228	TAC		0.448	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		
CEP89	84902	broad.mit.edu	37	19	33390846	33390846	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:33390846C>T	ENST00000305768.5	-	16	1880	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	598					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E598K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCAGACATTTCGTTCCCCATG	0.428																																					p.E598K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1792A	19						.						186.0	159.0	168.0					19																	33390846		2203	4300	6503	38082686	SO:0001583	missense	84902	exon16			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1792G>A	19.37:g.33390846C>T	ENSP00000306105:p.Glu598Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38082686	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569278	0.86439	.	.	ENSG00000121289	ENST00000305768	D	0.86627	-2.15	5.0	5.0	0.66597	.	0.046256	0.85682	D	0.000000	D	0.91855	0.7422	M	0.79805	2.47	0.80722	D	1	D	0.71674	0.998	P	0.61874	0.895	D	0.89337	0.3651	10	0.07644	T	0.81	-22.5961	18.2752	0.90080	0.0:1.0:0.0:0.0	.	598	Q96ST8	CEP89_HUMAN	K	598	ENSP00000306105:E598K	ENSP00000306105:E598K	E	-	1	0	CEP89	38082686	1.000000	0.71417	0.806000	0.32338	0.711000	0.40976	5.609000	0.67661	2.454000	0.82982	0.563000	0.77884	GAA		0.428	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
ATCAY	85300	broad.mit.edu	37	19	3905547	3905547	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:3905547C>A	ENST00000450849.2	+	4	719	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ATCAY_ENST00000600960.1_Missense_Mutation_p.F84L|ATCAY_ENST00000398448.3_Missense_Mutation_p.F90L|ATCAY_ENST00000301260.6_Missense_Mutation_p.F84L	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	84					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.F84L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCGATGACTTCTTGGATACCC	0.532																																					p.F84L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C252A	19						.						109.0	110.0	110.0					19																	3905547		1979	4155	6134	3856547	SO:0001583	missense	85300	exon4				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.252C>A	19.37:g.3905547C>A	ENSP00000390941:p.Phe84Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3856547	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145117	0.37825	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.36878	1.25;1.25;1.23	4.62	4.62	0.57501	.	0.156600	0.64402	D	0.000019	T	0.31949	0.0813	L	0.46741	1.465	0.49582	D	0.999807	B;B	0.16166	0.016;0.005	B;B	0.21360	0.034;0.023	T	0.12426	-1.0548	10	0.10636	T	0.68	-10.1843	16.5261	0.84331	0.0:1.0:0.0:0.0	.	90;84	B4DS11;Q86WG3	.;ATCAY_HUMAN	L	84;84;84;90;62	ENSP00000390941:F84L;ENSP00000301260:F84L;ENSP00000381466:F90L	ENSP00000301260:F84L	F	+	3	2	ATCAY	3856547	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.350000	0.59392	2.117000	0.64856	0.543000	0.68304	TTC		0.532	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
ATCAY	85300	broad.mit.edu	37	19	3910830	3910830	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:3910830T>C	ENST00000450849.2	+	8	1276	c.809T>C	c.(808-810)aTc>aCc	p.I270T	ATCAY_ENST00000600960.1_Missense_Mutation_p.I270T|ATCAY_ENST00000398448.3_Missense_Mutation_p.I276T|ATCAY_ENST00000301260.6_Missense_Mutation_p.I270T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	270	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.I270T(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTTGATCATCGTCCACCCC	0.612																																					p.I270T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T809C	19						.						130.0	138.0	136.0					19																	3910830		2103	4215	6318	3861830	SO:0001583	missense	85300	exon8				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.809T>C	19.37:g.3910830T>C	ENSP00000390941:p.Ile270Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3861830	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233935	0.79688	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.34275	1.37;1.37;1.37	4.46	4.46	0.54185	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.051304	0.85682	N	0.000000	T	0.67069	0.2854	M	0.93106	3.38	0.50171	D	0.999851	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.994;0.99;0.992	T	0.76107	-0.3080	10	0.87932	D	0	-12.572	12.9723	0.58520	0.0:0.0:0.0:1.0	.	276;270;270	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	T	270;270;270;276;248	ENSP00000390941:I270T;ENSP00000301260:I270T;ENSP00000381466:I276T	ENSP00000301260:I270T	I	+	2	0	ATCAY	3861830	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.775000	0.85489	1.650000	0.50662	0.374000	0.22700	ATC		0.612	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
RHPN2	85415	broad.mit.edu	37	19	33493859	33493859	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:33493859C>T	ENST00000254260.3	-	8	843	c.808G>A	c.(808-810)Gac>Aac	p.D270N	RHPN2_ENST00000400226.4_Missense_Mutation_p.D119N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	270	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.D270N(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGCTCATGTCGTAACTTGGA	0.433																																					p.D270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	19						.						51.0	46.0	48.0					19																	33493859		2203	4300	6503	38185699	SO:0001583	missense	85415	exon8			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.808G>A	19.37:g.33493859C>T	ENSP00000254260:p.Asp270Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38185699	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102511	0.94245	.	.	ENSG00000131941	ENST00000254260;ENST00000400226	T;T	0.55760	0.5;0.5	4.7	4.7	0.59300	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	H	0.95187	3.635	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	D	0.86783	0.1980	10	0.87932	D	0	0.141	18.0539	0.89358	0.0:1.0:0.0:0.0	.	270	Q8IUC4	RHPN2_HUMAN	N	270;119	ENSP00000254260:D270N;ENSP00000402244:D119N	ENSP00000254260:D270N	D	-	1	0	RHPN2	38185699	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.752000	0.85141	2.325000	0.78763	0.478000	0.44815	GAC		0.433	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
KIAA0355	9710	broad.mit.edu	37	19	34821222	34821222	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:34821222G>A	ENST00000299505.6	+	7	2106	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	411								p.A411A(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAAGACGGCGGTGCAGCTGC	0.532																																					p.A411A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1233A	19						.						99.0	75.0	83.0					19																	34821222		2203	4300	6503	39513062	SO:0001819	synonymous_variant	9710	exon7				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1233G>A	19.37:g.34821222G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39513062	NM_014686	Q2M3W4	Silent	SNP	ENST00000299505.6	37	CCDS12436.1																																																																																				0.532	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
KIAA0355	9710	broad.mit.edu	37	19	34832354	34832354	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:34832354C>T	ENST00000299505.6	+	10	2388	c.1515C>T	c.(1513-1515)atC>atT	p.I505I		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	505								p.I505I(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCATACAGATCCAGCTGCAAA	0.373																																					p.I505I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1515T	19						.						66.0	68.0	68.0					19																	34832354		2203	4300	6503	39524194	SO:0001819	synonymous_variant	9710	exon10				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1515C>T	19.37:g.34832354C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39524194	NM_014686	Q2M3W4	Silent	SNP	ENST00000299505.6	37	CCDS12436.1																																																																																				0.373	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
UBA2	10054	broad.mit.edu	37	19	34942896	34942896	+	Silent	SNP	G	G	A	rs146405147	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:34942896G>A	ENST00000246548.4	+	10	952	c.882G>A	c.(880-882)acG>acA	p.T294T	UBA2_ENST00000439527.2_Silent_p.T198T	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	294					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.T294T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGAAGAAACGAATGCATCAG	0.368													G|||	3	0.000599042	0.0	0.0	5008	,	,		15567	0.0		0.002	False		,,,				2504	0.001				p.T294T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G882A	19						.	G		0,4406		0,0,2203	54.0	53.0	53.0		882	-0.8	1.0	19	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBA2	NM_005499.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		294/641	34942896	1,13005	2203	4300	6503	39634736	SO:0001819	synonymous_variant	10054	exon10			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.882G>A	19.37:g.34942896G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39634736	NM_005499	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	CCDS12439.1																																																																																				0.368	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
UBA2	10054	broad.mit.edu	37	19	34945239	34945239	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:34945239G>T	ENST00000246548.4	+	11	1183	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	UBA2_ENST00000439527.2_Missense_Mutation_p.K275N	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	371					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.K371N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGAATATGAAGAGTAGATTTG	0.308																																					p.K371N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1113T	19						.						90.0	94.0	93.0					19																	34945239		2203	4300	6503	39637079	SO:0001583	missense	10054	exon11			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1113G>T	19.37:g.34945239G>T	ENSP00000246548:p.Lys371Asn	Somatic		Capture	Illumina HiSeq	Phase_I	39637079	NM_005499	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441019	0.63067	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.30714	1.52;1.52	5.34	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62407	-0.6861	10	0.52906	T	0.07	-17.4947	8.2053	0.31452	0.2468:0.0:0.7532:0.0	.	371	Q9UBT2	SAE2_HUMAN	N	244;371;275	ENSP00000246548:K371N;ENSP00000437484:K275N	ENSP00000246548:K371N	K	+	3	2	UBA2	39637079	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.125000	0.42016	1.393000	0.46605	0.563000	0.77884	AAG		0.308	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
ZNF30	90075	broad.mit.edu	37	19	35434191	35434191	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35434191T>G	ENST00000601142.1	+	5	558	c.321T>G	c.(319-321)tcT>tcG	p.S107S	ZNF30_ENST00000303586.7_Silent_p.S108S|ZNF30_ENST00000426813.2_Silent_p.S26S|ZNF30_ENST00000439785.1_Silent_p.S108S|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	107					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)	p.S108S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ACTGTCCATCTTTTGCTCTAC	0.348																																					p.S108S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T324G	19						.						52.0	50.0	51.0					19																	35434191		1843	4082	5925	40126031	SO:0001819	synonymous_variant	90075	exon5			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.321T>G	19.37:g.35434191T>G		Somatic		Capture	Illumina HiSeq	Phase_I	40126031	NM_001099437	A5PLP1|A8K320|B4DIC0|Q6N068	Silent	SNP	ENST00000601142.1	37	CCDS46045.1																																																																																				0.348	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325	
ZNF792	126375	broad.mit.edu	37	19	35450410	35450410	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35450410C>A	ENST00000404801.1	-	4	735	c.349G>T	c.(349-351)Gca>Tca	p.A117S	ZNF792_ENST00000605484.1_Missense_Mutation_p.A50S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A38S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGTCCTGTGCCACTCCTTCT	0.483																																					p.A117S	GBM(1;7 183 21053 22581 22847)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349T	19						.						81.0	79.0	80.0					19																	35450410		2203	4300	6503	40142250	SO:0001583	missense	126375	exon4			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.349G>T	19.37:g.35450410C>A	ENSP00000385099:p.Ala117Ser	Somatic		Capture	Illumina HiSeq	Phase_I	40142250	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	0.183	-1.060782	0.01950	.	.	ENSG00000180884	ENST00000404801	T	0.04454	3.62	3.16	-0.225	0.13111	.	.	.	.	.	T	0.01189	0.0039	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46162	-0.9211	9	0.02654	T	1	.	4.2502	0.10691	0.5911:0.1871:0.2218:0.0	.	117	Q3KQV3	ZN792_HUMAN	S	117	ENSP00000385099:A117S	ENSP00000385099:A117S	A	-	1	0	ZNF792	40142250	0.000000	0.05858	0.003000	0.11579	0.340000	0.28889	-0.085000	0.11250	-0.116000	0.11893	-0.518000	0.04402	GCA		0.483	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872	
ZNF792	126375	broad.mit.edu	37	19	35451892	35451892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35451892C>T	ENST00000404801.1	-	2	426	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V14M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCAAAGGTCACGCAGCCCTGC	0.557																																					p.V14M	GBM(1;7 183 21053 22581 22847)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G40A	19						.						169.0	153.0	159.0					19																	35451892		2203	4300	6503	40143732	SO:0001583	missense	126375	exon2			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.40G>A	19.37:g.35451892C>T	ENSP00000385099:p.Val14Met	Somatic		Capture	Illumina HiSeq	Phase_I	40143732	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	15.87	2.960433	0.53400	.	.	ENSG00000180884	ENST00000404801	T	0.05925	3.37	2.6	2.6	0.31112	Krueppel-associated box (4);	.	.	.	.	T	0.20047	0.0482	M	0.68952	2.095	0.24819	N	0.992593	D	0.89917	1.0	D	0.87578	0.998	T	0.01863	-1.1258	9	0.72032	D	0.01	.	8.8739	0.35334	0.0:1.0:0.0:0.0	.	14	Q3KQV3	ZN792_HUMAN	M	14	ENSP00000385099:V14M	ENSP00000385099:V14M	V	-	1	0	ZNF792	40143732	0.952000	0.32445	1.000000	0.80357	0.992000	0.81027	2.377000	0.44300	1.768000	0.52137	0.563000	0.77884	GTG		0.557	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872	
MAG	4099	broad.mit.edu	37	19	35793364	35793364	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35793364G>T	ENST00000392213.3	+	7	1143	c.984G>T	c.(982-984)aaG>aaT	p.K328N	MAG_ENST00000537831.2_Missense_Mutation_p.K303N|MAG_ENST00000361922.4_Missense_Mutation_p.K328N	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	328	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.K328N(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CACCCTGGAAGCCAACAGTGA	0.572																																					p.K303N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G909T	19						.						79.0	67.0	71.0					19																	35793364		2203	4300	6503	40485204	SO:0001583	missense	4099	exon7			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.984G>T	19.37:g.35793364G>T	ENSP00000376048:p.Lys328Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40485204	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986818	0.18889	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.72282	-0.64;-0.64;-0.64	5.28	4.03	0.46877	.	0.052199	0.85682	D	0.000000	T	0.73908	0.3647	L	0.55990	1.75	0.46849	D	0.999229	D;D;P	0.64830	0.975;0.994;0.834	P;D;P	0.65323	0.807;0.934;0.669	T	0.68352	-0.5431	10	0.15499	T	0.54	.	8.0925	0.30809	0.1913:0.0:0.8087:0.0	.	365;328;328	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	N	365;328;328;303	ENSP00000355234:K328N;ENSP00000376048:K328N;ENSP00000440695:K303N	ENSP00000262624:K365N	K	+	3	2	MAG	40485204	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.165000	0.42396	2.469000	0.83416	0.455000	0.32223	AAG		0.572	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
MAG	4099	broad.mit.edu	37	19	35804250	35804250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35804250G>T	ENST00000392213.3	+	11	1933	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	MAG_ENST00000537831.2_Nonsense_Mutation_p.E567*|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	592					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.E592*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGAGCCCCCAGAGCTGGACCT	0.627																																					p.E567X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1699T	19						.						84.0	79.0	81.0					19																	35804250		2203	4300	6503	40496090	SO:0001587	stop_gained	4099	exon11			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1774G>T	19.37:g.35804250G>T	ENSP00000376048:p.Glu592*	Somatic		Capture	Illumina HiSeq	Phase_I	40496090	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013622	0.75161	.	.	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	.	.	.	4.7	2.47	0.30058	.	0.195962	0.43416	D	0.000573	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	6.4407	0.21849	0.0996:0.1828:0.7176:0.0	.	.	.	.	X	629;592;567	.	ENSP00000262624:E629X	E	+	1	0	MAG	40496090	0.998000	0.40836	0.641000	0.29422	0.108000	0.19459	3.394000	0.52551	0.552000	0.29026	0.561000	0.74099	GAG		0.627	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
CD22	933	broad.mit.edu	37	19	35831956	35831956	+	Silent	SNP	C	C	T	rs199643177		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:35831956C>T	ENST00000085219.5	+	7	1488	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	CD22_ENST00000594250.1_Silent_p.N297N|CD22_ENST00000419549.2_Silent_p.N302N|CD22_ENST00000270311.6_Silent_p.N354N|CD22_ENST00000536635.2_Silent_p.N386N|CD22_ENST00000341773.6_Silent_p.N297N|CD22_ENST00000544992.2_Silent_p.N474N	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	474	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N474N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGATCCAAAACGTTGGCTGGG	0.567																																					p.N297N	Ovarian(42;1009 1133 23674 26041)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C891T	19						.						97.0	86.0	90.0					19																	35831956		2203	4300	6503	40523796	SO:0001819	synonymous_variant	933	exon5			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1422C>T	19.37:g.35831956C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40523796	NM_001185101	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.567	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
ZBTB32	27033	broad.mit.edu	37	19	36205821	36205821	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36205821G>T	ENST00000392197.2	+	3	611	c.293G>T	c.(292-294)aGg>aTg	p.R98M	ZBTB32_ENST00000262630.3_Missense_Mutation_p.R98M			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	98					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R98M(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGCGGCCAGGGCCTTGGGA	0.597																																					p.R98M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293T	19						.						52.0	54.0	53.0					19																	36205821		2203	4300	6503	40897661	SO:0001583	missense	27033	exon2			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.293G>T	19.37:g.36205821G>T	ENSP00000376035:p.Arg98Met	Somatic		Capture	Illumina HiSeq	Phase_I	40897661	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433587	0.62955	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.22743	1.94;1.94	5.85	3.63	0.41609	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.267324	0.26983	N	0.021513	T	0.29190	0.0726	L	0.55990	1.75	0.25632	N	0.986293	D	0.59767	0.986	P	0.53313	0.723	T	0.08659	-1.0711	10	0.87932	D	0	-8.848	8.3475	0.32281	0.1925:0.0:0.8075:0.0	.	98	Q9Y2Y4	ZBT32_HUMAN	M	98	ENSP00000262630:R98M;ENSP00000376035:R98M	ENSP00000262630:R98M	R	+	2	0	ZBTB32	40897661	0.933000	0.31639	0.654000	0.29608	0.818000	0.46254	2.511000	0.45476	0.727000	0.32360	0.655000	0.94253	AGG		0.597	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
ZBTB32	27033	broad.mit.edu	37	19	36206208	36206208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36206208G>A	ENST00000392197.2	+	3	998	c.680G>A	c.(679-681)cGc>cAc	p.R227H	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.R227H|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	227					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R227H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAAAGTCTGCGCAAGCTCCCT	0.647																																					p.R227H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	19						.						51.0	52.0	52.0					19																	36206208		2203	4300	6503	40898048	SO:0001583	missense	27033	exon2			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.680G>A	19.37:g.36206208G>A	ENSP00000376035:p.Arg227His	Somatic		Capture	Illumina HiSeq	Phase_I	40898048	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731769	0.15507	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10668	2.85;2.85	4.53	1.27	0.21489	.	0.964971	0.08479	N	0.939809	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.35240	0.198	T	0.34030	-0.9845	10	0.56958	D	0.05	-0.2322	6.4337	0.21811	0.2996:0.0:0.7004:0.0	.	227	Q9Y2Y4	ZBT32_HUMAN	H	227	ENSP00000262630:R227H;ENSP00000376035:R227H	ENSP00000262630:R227H	R	+	2	0	ZBTB32	40898048	0.013000	0.17824	0.108000	0.21378	0.116000	0.19942	0.151000	0.16283	0.192000	0.20272	0.561000	0.74099	CGC		0.647	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
KMT2B	9757	broad.mit.edu	37	19	36210688	36210688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36210688C>T	ENST00000222270.7	+	3	439	c.439C>T	c.(439-441)Cga>Tga	p.R147*	KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	147					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R147*(1)									CCTTTTAGGTCGAGCGCCCCG	0.597																																					p.R147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C439T	19						.						65.0	72.0	70.0					19																	36210688		1931	4117	6048	40902528	SO:0001587	stop_gained	9757	exon3			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.439C>T	19.37:g.36210688C>T	ENSP00000222270:p.Arg147*	Somatic		Capture	Illumina HiSeq	Phase_I	40902528	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024107	0.75390	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.06	3.98	0.46160	.	0.234308	0.22028	N	0.065638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5709	0.45200	0.0:0.7886:0.2114:0.0	.	.	.	.	X	147	.	ENSP00000222270:R147X	R	+	1	2	AD000671.1	40902528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.174000	0.42482	2.632000	0.89209	0.561000	0.74099	CGA		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
PROSER3	148137	broad.mit.edu	37	19	36255975	36255975	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36255975G>T	ENST00000544099.1	+	7	730	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	C19orf55_ENST00000396908.4_Missense_Mutation_p.D223Y			Q2NL68	PRSR3_HUMAN		223	Ser-rich.							p.D223Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCCCAGCGATGCCAGCAC	0.637																																					p.D223Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G667T	19						.						139.0	150.0	146.0					19																	36255975		2171	4262	6433	40947815	SO:0001583	missense	148137	exon7																														ENST00000544099.1:c.667G>T	19.37:g.36255975G>T	ENSP00000467267:p.Asp223Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40947815	NM_001039887	Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	G	14.48	2.546957	0.45383	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.55052	0.54;0.54	4.42	1.15	0.20763	.	0.364135	0.19921	N	0.103089	T	0.62122	0.2402	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.48068	-0.9067	10	0.54805	T	0.06	-2.3697	5.8987	0.18953	0.329:0.0:0.671:0.0	.	223	E5RFB9	.	Y	223;222	ENSP00000380116:D223Y;ENSP00000301165:D222Y	ENSP00000301165:D222Y	D	+	1	0	C19orf55	40947815	0.001000	0.12720	0.299000	0.25016	0.617000	0.37484	0.399000	0.20916	0.608000	0.30000	0.558000	0.71614	GAT		0.637	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
ARHGAP33	115703	broad.mit.edu	37	19	36275129	36275129	+	Missense_Mutation	SNP	C	C	T	rs143998454		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36275129C>T	ENST00000007510.4	+	16	1621	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R357W|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R493W			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	493	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.R493W(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGGGAAGTTCGGGTGCAGTC	0.667																																					p.R493W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1477T	19						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	252.0	209.0	224.0		1069,1477	2.6	0.6	19	dbSNP_134	224	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP33	NM_001172630.1,NM_052948.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	357/1124,493/1127	36275129	1,13005	2203	4300	6503	40966969	SO:0001583	missense	115703	exon16			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1477C>T	19.37:g.36275129C>T	ENSP00000007510:p.Arg493Trp	Somatic		Capture	Illumina HiSeq	Phase_I	40966969	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	c	17.04	3.287719	0.59976	0.0	1.16E-4	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12147	2.71;2.71;2.71	4.82	2.6	0.31112	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000023	T	0.45776	0.1359	M	0.93283	3.4	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.928;0.978;0.999	T	0.58250	-0.7669	10	0.87932	D	0	.	12.816	0.57665	0.2974:0.7026:0.0:0.0	.	493;357;493	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	W	493;493;357	ENSP00000007510:R493W;ENSP00000320038:R493W;ENSP00000368227:R357W	ENSP00000007510:R493W	R	+	1	2	ARHGAP33	40966969	0.981000	0.34729	0.575000	0.28536	0.439000	0.31926	3.111000	0.50360	0.512000	0.28257	-0.490000	0.04691	CGG		0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
KIRREL2	84063	broad.mit.edu	37	19	36349687	36349687	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36349687G>A	ENST00000360202.5	+	4	641	c.443G>A	c.(442-444)aGc>aAc	p.S148N	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S98N|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S148N|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S148N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	148	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.S148N(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACATGTCGGAGCCGTGGGGAT	0.622																																					p.S148N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G443A	19						.						92.0	92.0	92.0					19																	36349687		2203	4300	6503	41041527	SO:0001583	missense	84063	exon4			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.443G>A	19.37:g.36349687G>A	ENSP00000353331:p.Ser148Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41041527	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078461	0.55753	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	D;D;D	0.81908	-1.55;-1.55;-1.55	5.56	4.46	0.54185	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.131096	0.35235	N	0.003350	D	0.89598	0.6761	M	0.84326	2.69	0.37726	D	0.925107	D;P;D;P;P	0.56968	0.978;0.952;0.961;0.952;0.952	P;P;P;P;P	0.60236	0.871;0.652;0.764;0.652;0.652	D	0.91643	0.5328	10	0.72032	D	0.01	-23.2549	13.0362	0.58873	0.0:0.1621:0.8378:0.0	.	148;148;148;98;148	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	N	148;98;148;148	ENSP00000262625:S148N;ENSP00000345067:S98N;ENSP00000353331:S148N	ENSP00000262625:S148N	S	+	2	0	KIRREL2	41041527	0.998000	0.40836	0.998000	0.56505	0.084000	0.17831	3.058000	0.49939	2.789000	0.95967	0.558000	0.71614	AGC		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
KIRREL2	84063	broad.mit.edu	37	19	36351526	36351526	+	Silent	SNP	C	C	T	rs372777217		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36351526C>T	ENST00000360202.5	+	7	1083	c.885C>T	c.(883-885)aaC>aaT	p.N295N	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.N245N|KIRREL2_ENST00000592409.1_Silent_p.N295N|KIRREL2_ENST00000262625.7_Silent_p.N295N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	295	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.N295N(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGTCAGCAACGCCGTGGGTA	0.667																																					p.N295N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C885T	19						.	C	,,	0,4406		0,0,2203	65.0	71.0	69.0		885,735,885	1.9	1.0	19		69	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	295/634,245/584,295/709	36351526	1,13003	2203	4299	6502	41043366	SO:0001819	synonymous_variant	84063	exon7			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.885C>T	19.37:g.36351526C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41043366	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																				0.667	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
APLP1	333	broad.mit.edu	37	19	36362841	36362841	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36362841G>A	ENST00000221891.4	+	6	945	c.753G>A	c.(751-753)caG>caA	p.Q251Q	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Silent_p.Q212Q|APLP1_ENST00000586861.1_Silent_p.Q245Q	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	251					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.Q251Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTCCCACAGCCAGTAGATG	0.617																																					p.Q251Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G753A	19						.						99.0	102.0	101.0					19																	36362841		2203	4300	6503	41054681	SO:0001819	synonymous_variant	333	exon6			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.753G>A	19.37:g.36362841G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41054681	NM_001024807	O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.617	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
APLP1	333	broad.mit.edu	37	19	36362931	36362931	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36362931C>T	ENST00000221891.4	+	6	1035	c.843C>T	c.(841-843)gtC>gtT	p.V281V	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Silent_p.V242V|APLP1_ENST00000586861.1_Silent_p.V275V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.V281V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTGCAGTGGTCGGCAAAGGTG	0.592																																					p.V281V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	19						.						86.0	90.0	89.0					19																	36362931		2202	4300	6502	41054771	SO:0001819	synonymous_variant	333	exon6			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.843C>T	19.37:g.36362931C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41054771	NM_001024807	O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.592	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
ZNF529	57711	broad.mit.edu	37	19	37037967	37037967	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37037967C>A	ENST00000591340.1	-	5	1651	c.1493G>T	c.(1492-1494)aGa>aTa	p.R498I	ZNF529_ENST00000334116.7_Missense_Mutation_p.R393I	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R498I(1)|p.R497I(1)		breast(1)	1	Esophageal squamous(110;0.198)					AGTATGAATTCTCTGATGTTC	0.393																																					p.R498I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1493T	19						.						65.0	70.0	68.0					19																	37037967		2198	4299	6497	41729807	SO:0001583	missense	57711	exon5			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1493G>T	19.37:g.37037967C>A	ENSP00000465578:p.Arg498Ile	Somatic		Capture	Illumina HiSeq	Phase_I	41729807	NM_020951	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541641	0.65085	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.29	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76205	0.3955	M	0.82630	2.6	0.43114	D	0.994829	D;D	0.76494	0.997;0.999	D;D	0.68192	0.933;0.956	T	0.78102	-0.2335	8	0.54805	T	0.06	.	9.6819	0.40076	0.0:0.8863:0.0:0.1137	.	393;465	Q6P280-2;Q6P280	.;ZN529_HUMAN	I	498	.	ENSP00000334695:R498I	R	-	2	0	ZNF529	41729807	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	-0.130000	0.10498	1.656000	0.50722	0.591000	0.81541	AGA		0.393	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951	
ZNF382	84911	broad.mit.edu	37	19	37117179	37117179	+	Missense_Mutation	SNP	G	G	A	rs142570474		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37117179G>A	ENST00000292928.2	+	5	493	c.380G>A	c.(379-381)cGt>cAt	p.R127H	ZNF382_ENST00000439428.1_Missense_Mutation_p.R126H|ZNF382_ENST00000435416.1_Missense_Mutation_p.R126H|ZNF382_ENST00000423582.1_Missense_Mutation_p.R78H|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	127	Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R127H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCAAGAACCGTATTTCAAAA	0.308																																					p.R127H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	19						.	G	HIS/ARG	0,4404		0,0,2202	48.0	52.0	50.0		380	-7.9	0.3	19	dbSNP_134	50	2,8590	2.2+/-6.3	0,2,4294	no	missense	ZNF382	NM_032825.3	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	127/551	37117179	2,12994	2202	4296	6498	41809019	SO:0001583	missense	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.380G>A	19.37:g.37117179G>A	ENSP00000292928:p.Arg127His	Somatic		Capture	Illumina HiSeq	Phase_I	41809019	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382363	0.01204	0.0	2.33E-4	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.05580	3.42;3.54;3.55;3.55	4.35	-7.93	0.01156	.	1.101970	0.07007	N	0.824495	T	0.03348	0.0097	N	0.11560	0.145	0.21445	N	0.999681	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45527	-0.9255	10	0.21540	T	0.41	.	13.8077	0.63243	0.4438:0.0:0.5562:0.0	.	126;126;127	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	78;127;126;126	ENSP00000389722:R78H;ENSP00000292928:R127H;ENSP00000407593:R126H;ENSP00000410113:R126H	ENSP00000292928:R127H	R	+	2	0	ZNF382	41809019	0.000000	0.05858	0.264000	0.24511	0.221000	0.24807	-2.523000	0.00949	-1.804000	0.01241	-1.993000	0.00448	CGT		0.308	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
EBI3	10148	broad.mit.edu	37	19	4237074	4237074	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:4237074C>A	ENST00000221847.5	+	5	732	c.679C>A	c.(679-681)Ctg>Atg	p.L227M		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)	p.L227M(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAATGAGCCTGGGCAAGTA	0.652																																					p.L227M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679A	19						.						41.0	41.0	41.0					19																	4237074		2203	4300	6503	4188074	SO:0001583	missense	10148	exon5			L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.679C>A	19.37:g.4237074C>A	ENSP00000221847:p.Leu227Met	Somatic		Capture	Illumina HiSeq	Phase_I	4188074	NM_005755	A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821201	0.16678	.	.	ENSG00000105246	ENST00000221847	T	0.66460	-0.21	4.68	-0.691	0.11305	.	2.468790	0.02898	N	0.135013	T	0.50871	0.1641	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.26608	-1.0098	10	0.33940	T	0.23	-0.0478	3.7128	0.08427	0.1527:0.4549:0.2991:0.0934	.	227	Q14213	IL27B_HUMAN	M	227	ENSP00000221847:L227M	ENSP00000221847:L227M	L	+	1	2	EBI3	4188074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	0.106000	0.17784	0.557000	0.71058	CTG		0.652	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1		
ZNF382	84911	broad.mit.edu	37	19	37117746	37117746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37117746G>A	ENST00000292928.2	+	5	1060	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	ZNF382_ENST00000439428.1_Missense_Mutation_p.R315Q|ZNF382_ENST00000435416.1_Missense_Mutation_p.R315Q|ZNF382_ENST00000423582.1_Missense_Mutation_p.R267Q|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	316	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R316Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACATCAGCGAATTCACACA	0.423																																					p.R316Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947A	19						.						89.0	88.0	88.0					19																	37117746		2203	4300	6503	41809586	SO:0001583	missense	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.947G>A	19.37:g.37117746G>A	ENSP00000292928:p.Arg316Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41809586	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015518	0.75161	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34223	N	0.004160	T	0.41834	0.1176	M	0.81341	2.54	0.29388	N	0.862855	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.54759	0.646;0.646;0.76	T	0.48670	-0.9015	10	0.87932	D	0	.	8.5603	0.33507	0.1042:0.0:0.8958:0.0	.	315;315;316	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	Q	267;316;315;315	ENSP00000389722:R267Q;ENSP00000292928:R316Q;ENSP00000407593:R315Q;ENSP00000410113:R315Q	ENSP00000292928:R316Q	R	+	2	0	ZNF382	41809586	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.207000	0.17395	2.481000	0.83766	0.591000	0.81541	CGA		0.423	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF567	163081	broad.mit.edu	37	19	37210633	37210633	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37210633C>T	ENST00000536254.2	+	6	1229	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	ZNF567_ENST00000392163.2_Missense_Mutation_p.S305L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.S305L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S305L|ZNF567_ENST00000585696.1_Missense_Mutation_p.S305L			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAGAAATCGTATGAATGT	0.458																																					p.S305L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C914T	19						.						72.0	68.0	69.0					19																	37210633		2203	4300	6503	41902473	SO:0001583	missense	163081	exon4			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1007C>T	19.37:g.37210633C>T	ENSP00000441838:p.Ser336Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41902473	NM_152603	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	C	15.45	2.837211	0.50951	.	.	ENSG00000189042	ENST00000536254;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.16897	2.31;2.31;2.31	4.53	3.48	0.39840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36167	N	0.002751	T	0.08714	0.0216	N	0.05199	-0.095	0.80722	D	1	B;B	0.25743	0.133;0.109	B;B	0.16722	0.016;0.009	T	0.16748	-1.0392	10	0.56958	D	0.05	.	12.1099	0.53834	0.1724:0.8276:0.0:0.0	.	336;305	Q8N184;F8WEL6	ZN567_HUMAN;.	L	336;305;335;305	ENSP00000441838:S336L;ENSP00000353957:S305L;ENSP00000376003:S305L	ENSP00000353957:S305L	S	+	2	0	ZNF567	41902473	0.918000	0.31147	0.562000	0.28370	0.784000	0.44337	3.112000	0.50368	1.231000	0.43661	0.462000	0.41574	TCG		0.458	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF567	163081	broad.mit.edu	37	19	37211368	37211368	+	Missense_Mutation	SNP	G	G	T	rs192986331		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37211368G>T	ENST00000536254.2	+	6	1964	c.1742G>T	c.(1741-1743)aGa>aTa	p.R581I	ZNF567_ENST00000392163.2_Missense_Mutation_p.R550I|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.R550I|ZNF567_ENST00000360729.4_Missense_Mutation_p.R550I|ZNF567_ENST00000585696.1_Missense_Mutation_p.R550I			Q8N184	ZN567_HUMAN	zinc finger protein 567	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R550I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCATCAAAGAACTCATACG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18838	0.0		0.0	False		,,,				2504	0.0				p.R550I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649T	19						.						58.0	61.0	60.0					19																	37211368		2203	4300	6503	41903208	SO:0001583	missense	163081	exon4			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1742G>T	19.37:g.37211368G>T	ENSP00000441838:p.Arg581Ile	Somatic		Capture	Illumina HiSeq	Phase_I	41903208	NM_152603	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.07	3.294201	0.60086	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.24908	4.29;4.29;1.83	4.92	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000189	T	0.42832	0.1220	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.77557	0.721;0.99	T	0.35176	-0.9799	10	0.87932	D	0	.	6.9131	0.24346	0.0921:0.3393:0.5686:0.0	.	581;550	Q8N184;F8WEL6	ZN567_HUMAN;.	I	581;525;550;580;550	ENSP00000441838:R581I;ENSP00000353957:R550I;ENSP00000376003:R550I	ENSP00000353957:R550I	R	+	2	0	ZNF567	41903208	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.593000	0.23999	1.408000	0.46895	0.561000	0.74099	AGA		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF790	388536	broad.mit.edu	37	19	37310257	37310257	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37310257C>A	ENST00000356725.4	-	5	1109	c.989G>T	c.(988-990)aGa>aTa	p.R330I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	330					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)	p.R330I(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTGTGAATTCTCTGATGTTT	0.388																																					p.R330I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989T	19						.						56.0	58.0	57.0					19																	37310257		2203	4300	6503	42002097	SO:0001583	missense	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.989G>T	19.37:g.37310257C>A	ENSP00000349161:p.Arg330Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42002097	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914127	0.52546	.	.	ENSG00000197863	ENST00000356725	T	0.24908	1.83	2.97	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44008	0.1273	M	0.65498	2.005	0.46798	D	0.999205	D	0.89917	1.0	D	0.73380	0.98	T	0.32798	-0.9893	9	0.66056	D	0.02	.	9.2983	0.37829	0.0:0.8856:0.0:0.1144	.	330	Q6PG37	ZN790_HUMAN	I	330	ENSP00000349161:R330I	ENSP00000349161:R330I	R	-	2	0	ZNF790	42002097	0.000000	0.05858	0.496000	0.27539	0.967000	0.64934	-0.155000	0.10115	0.571000	0.29365	0.313000	0.20887	AGA		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37310989	37310989	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37310989T>G	ENST00000356725.4	-	5	377	c.257A>C	c.(256-258)aAg>aCg	p.K86T	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	86					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)	p.K86T(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTAATAACTTCTTGGTCTG	0.323																																					p.K86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257C	19						.						51.0	53.0	52.0					19																	37310989		2203	4300	6503	42002829	SO:0001583	missense	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.257A>C	19.37:g.37310989T>G	ENSP00000349161:p.Lys86Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42002829	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	8.924	0.961769	0.18583	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.05580	3.42;6.22;5.81	3.01	3.01	0.34805	.	.	.	.	.	T	0.09555	0.0235	L	0.53561	1.675	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.22068	-1.0227	9	0.23302	T	0.38	.	5.5102	0.16876	0.2475:0.0:0.0:0.7524	.	86	Q6PG37	ZN790_HUMAN	T	86	ENSP00000349161:K86T;ENSP00000435944:K86T;ENSP00000433389:K86T	ENSP00000349161:K86T	K	-	2	0	ZNF790	42002829	0.016000	0.18221	0.092000	0.20876	0.300000	0.27592	2.193000	0.42658	1.367000	0.46095	0.397000	0.26171	AAG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF345	25850	broad.mit.edu	37	19	37367893	37367893	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37367893G>T	ENST00000529555.1	+	2	949	c.161G>T	c.(160-162)aGa>aTa	p.R54I	ZNF345_ENST00000420450.1_Missense_Mutation_p.R54I|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54I|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	54					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R54I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACT	0.393																																					p.R54I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161T	19						.						112.0	116.0	115.0					19																	37367893		2203	4300	6503	42059733	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.161G>T	19.37:g.37367893G>T	ENSP00000431202:p.Arg54Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42059733	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	9.810	1.182929	0.21870	.	.	ENSG00000251247	ENST00000532141;ENST00000420450;ENST00000529555;ENST00000331800	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.37	-3.67	0.04476	.	.	.	.	.	T	0.14570	0.0352	L	0.31926	0.97	0.34945	D	0.750647	B	0.12630	0.006	B	0.10450	0.005	T	0.14559	-1.0468	9	0.66056	D	0.02	.	3.1682	0.06542	0.1673:0.3145:0.3981:0.1201	.	54	Q14585	ZN345_HUMAN	I	54	ENSP00000431289:R54I;ENSP00000431216:R54I;ENSP00000431202:R54I;ENSP00000331120:R54I	ENSP00000331120:R54I	R	+	2	0	ZNF345	42059733	0.000000	0.05858	0.814000	0.32528	0.986000	0.74619	-2.083000	0.01364	-0.377000	0.07930	0.655000	0.94253	AGA		0.393	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF345	25850	broad.mit.edu	37	19	37368471	37368471	+	Missense_Mutation	SNP	C	C	T	rs144310850		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37368471C>T	ENST00000529555.1	+	2	1527	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	ZNF345_ENST00000420450.1_Missense_Mutation_p.R247W|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R247W|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	247					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R247W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCTCTTACTCGGCATCAGAG	0.423																																					p.R247W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739T	19						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	75.0	75.0		739,739,739,739,739	-1.3	0.4	19	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ZNF345	NM_001242472.1,NM_001242474.1,NM_001242475.1,NM_001242476.1,NM_003419.4	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	247/489,247/489,247/489,247/489,247/489	37368471	1,13005	2203	4300	6503	42060311	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.739C>T	19.37:g.37368471C>T	ENSP00000431202:p.Arg247Trp	Somatic		Capture	Illumina HiSeq	Phase_I	42060311	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760984	0.31137	2.27E-4	0.0	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.36878	1.23;1.23	3.96	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32971	0.0847	M	0.79343	2.45	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.40997	-0.9533	9	0.66056	D	0.02	.	3.6012	0.08026	0.2339:0.5313:0.1376:0.0972	.	247	Q14585	ZN345_HUMAN	W	247;247;11	ENSP00000431216:R247W;ENSP00000431202:R247W	ENSP00000442320:R11W	R	+	1	2	ZNF345	42060311	0.000000	0.05858	0.383000	0.26132	0.645000	0.38454	-4.272000	0.00262	0.053000	0.16036	0.561000	0.74099	CGG		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF829	374899	broad.mit.edu	37	19	37382867	37382867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37382867C>T	ENST00000391711.3	-	6	1190	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.A357T|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A276T(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGTAAAGGCTTTTCCACAT	0.353																																					p.A276T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826A	19						.						45.0	48.0	47.0					19																	37382867		2196	4297	6493	42074707	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.826G>A	19.37:g.37382867C>T	ENSP00000429266:p.Ala276Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42074707	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284818	0.10513	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.13778	2.56	3.18	0.971	0.19698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.10618	0.005	0.21020	N	0.999805	P	0.41475	0.751	B	0.43123	0.409	T	0.30822	-0.9965	9	0.27785	T	0.31	.	4.8341	0.13456	0.5046:0.384:0.0:0.1114	.	276	Q3KNS6	ZN829_HUMAN	T	276	ENSP00000429266:A276T	ENSP00000429266:A276T	A	-	1	0	ZNF829	42074707	0.000000	0.05858	0.995000	0.50966	0.059000	0.15707	-0.133000	0.10451	0.353000	0.24079	-0.907000	0.02831	GCC		0.353	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37399326	37399326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37399326G>T	ENST00000391711.3	-	4	496	c.132C>A	c.(130-132)ttC>ttA	p.F44L	ZNF829_ENST00000520965.1_Missense_Mutation_p.F125L|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F44L(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTCTTGAGAGAAGTCTATGG	0.433																																					p.F44L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C132A	19						.						105.0	105.0	105.0					19																	37399326		2139	4269	6408	42091166	SO:0001583	missense	374899	exon4			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.132C>A	19.37:g.37399326G>T	ENSP00000429266:p.Phe44Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42091166	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977405	0.74360	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.12879	2.64	4.47	4.47	0.54385	Krueppel-associated box (4);	.	.	.	.	T	0.28995	0.0720	M	0.85197	2.74	0.29600	N	0.84778	P	0.38788	0.647	P	0.45232	0.474	T	0.12502	-1.0545	9	0.51188	T	0.08	.	12.8102	0.57635	0.0:0.0:1.0:0.0	.	44	Q3KNS6	ZN829_HUMAN	L	44	ENSP00000429266:F44L	ENSP00000429266:F44L	F	-	3	2	ZNF829	42091166	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.355000	0.52262	2.474000	0.83562	0.591000	0.81541	TTC		0.433	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37406056	37406056	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37406056G>T	ENST00000391711.3	-	2	378	c.14C>A	c.(13-15)cCt>cAt	p.P5H	ZNF568_ENST00000415168.1_5'Flank|ZNF829_ENST00000520965.1_Missense_Mutation_p.P86H|ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000427117.1_5'Flank|ZNF568_ENST00000333987.7_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P5H(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATCAGAGGAGAATGGGG	0.498																																					p.P5H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14A	19						.						140.0	131.0	134.0					19																	37406056		1925	4134	6059	42097896	SO:0001583	missense	374899	exon2			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.14C>A	19.37:g.37406056G>T	ENSP00000429266:p.Pro5His	Somatic		Capture	Illumina HiSeq	Phase_I	42097896	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085047	0.36758	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.05580	3.42	3.98	-0.772	0.10998	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.47971	-0.9075	9	0.17832	T	0.49	.	3.5464	0.07829	0.3558:0.1935:0.4507:0.0	.	5	Q3KNS6	ZN829_HUMAN	H	5	ENSP00000429266:P5H	ENSP00000429266:P5H	P	-	2	0	ZNF829	42097896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.027000	0.13621	-0.029000	0.13827	-0.189000	0.12847	CCT		0.498	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF568	374900	broad.mit.edu	37	19	37441132	37441132	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37441132G>T	ENST00000333987.7	+	7	1583	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	ZNF568_ENST00000415168.1_Missense_Mutation_p.E295D|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	359					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)	p.E359D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTGGGGAGAAACCTTATG	0.398																																					p.E359D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1077T	19						.						75.0	82.0	80.0					19																	37441132		2198	4294	6492	42132972	SO:0001583	missense	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1077G>T	19.37:g.37441132G>T	ENSP00000334685:p.Glu359Asp	Somatic		Capture	Illumina HiSeq	Phase_I	42132972	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274500	0.59649	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.26810	1.71;1.71	4.22	2.08	0.27032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37483	N	0.002079	T	0.37461	0.1004	L	0.42581	1.335	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.07501	-1.0769	10	0.62326	D	0.03	.	8.4416	0.32818	0.196:0.0:0.804:0.0	.	359	Q3ZCX4	ZN568_HUMAN	D	359;295	ENSP00000334685:E359D;ENSP00000394514:E295D	ENSP00000334685:E359D	E	+	3	2	ZNF568	42132972	0.990000	0.36364	0.999000	0.59377	0.986000	0.74619	0.518000	0.22847	0.542000	0.28846	-0.136000	0.14681	GAG		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF420	147923	broad.mit.edu	37	19	37619349	37619349	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37619349C>T	ENST00000337995.3	+	5	1671	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R486C(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCTTTTATTCGTGGTTCCCA	0.398																																					p.R486C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1456T	19						.						72.0	65.0	67.0					19																	37619349		2203	4300	6503	42311189	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1456C>T	19.37:g.37619349C>T	ENSP00000338770:p.Arg486Cys	Somatic		Capture	Illumina HiSeq	Phase_I	42311189	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271976	0.23221	.	.	ENSG00000197050	ENST00000337995	T	0.07567	3.18	4.02	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18551	0.0445	L	0.53780	1.695	0.09310	N	0.999994	D	0.89917	1.0	P	0.62740	0.906	T	0.05257	-1.0896	8	.	.	.	.	8.0139	0.30370	0.0:0.7972:0.0:0.2028	.	486	Q8TAQ5	ZN420_HUMAN	C	486	ENSP00000338770:R486C	.	R	+	1	0	ZNF420	42311189	0.000000	0.05858	0.355000	0.25773	0.652000	0.38707	-2.918000	0.00695	0.906000	0.36621	0.591000	0.81541	CGT		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF585A	199704	broad.mit.edu	37	19	37643008	37643008	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37643008C>T	ENST00000356958.4	-	5	2051	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R543K|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R543K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R543K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTTTGATGAGT	0.438																																					p.R543K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1628A	19						.						18.0	18.0	18.0					19																	37643008		2185	4272	6457	42334848	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1793G>A	19.37:g.37643008C>T	ENSP00000349440:p.Arg598Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42334848	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	12.68	2.011570	0.35511	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.18338	2.22;2.22;2.22	3.21	2.16	0.27623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001498	T	0.33789	0.0875	.	.	.	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.03051	-1.1078	9	0.51188	T	0.08	.	6.4854	0.22085	0.0:0.7603:0.0:0.2397	.	598	Q6P3V2	Z585A_HUMAN	K	598;543;543	ENSP00000349440:R598K;ENSP00000292841:R543K;ENSP00000375998:R543K	ENSP00000292841:R543K	R	-	2	0	ZNF585A	42334848	0.000000	0.05858	0.104000	0.21259	0.959000	0.62525	0.184000	0.16939	0.671000	0.31185	0.655000	0.94253	AGA		0.438	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643813	37643813	+	Missense_Mutation	SNP	C	C	T	rs199781787		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37643813C>T	ENST00000356958.4	-	5	1246	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E275K|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E275K|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E275K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E275K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCATATTCGGTACATATA	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22748	0.0		0.0	False		,,,				2504	0.0				p.E275K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G823A	19						.						178.0	169.0	172.0					19																	37643813		2203	4300	6503	42335653	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.988G>A	19.37:g.37643813C>T	ENSP00000349440:p.Glu330Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42335653	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	2.779	-0.253862	0.05829	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.61392	3.2;3.2;3.2;0.11	3.13	-0.469	0.12142	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.622230	0.13330	N	0.396008	T	0.42063	0.1186	L	0.39467	1.215	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31998	-0.9923	10	0.54805	T	0.06	.	4.7689	0.13146	0.0:0.5975:0.179:0.2235	.	330	Q6P3V2	Z585A_HUMAN	K	330;275;275;275	ENSP00000349440:E330K;ENSP00000292841:E275K;ENSP00000375998:E275K;ENSP00000347724:E275K	ENSP00000292841:E275K	E	-	1	0	ZNF585A	42335653	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.104000	0.12154	-1.105000	0.02106	GAA		0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585B	92285	broad.mit.edu	37	19	37677148	37677148	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37677148T>G	ENST00000532828.2	-	5	1542	c.1291A>C	c.(1291-1293)Att>Ctt	p.I431L	ZNF585B_ENST00000531805.1_Missense_Mutation_p.I376L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.I19L|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I431L(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTATGAATTATTTGATGT	0.383																																					p.I431L	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1291C	19						.						103.0	102.0	102.0					19																	37677148		2203	4300	6503	42368988	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1291A>C	19.37:g.37677148T>G	ENSP00000433773:p.Ile431Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42368988	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344707	0.41498	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.35421	1.31;1.31;2.25	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38111	N	0.001816	T	0.37348	0.1000	L	0.31752	0.955	0.24831	N	0.992524	B;P	0.52463	0.049;0.953	B;D	0.65443	0.048;0.935	T	0.10683	-1.0619	10	0.66056	D	0.02	.	2.0833	0.03640	0.2601:0.1554:0.0:0.5845	.	376;431	E9PQH3;Q52M93	.;Z585B_HUMAN	L	376;431;19	ENSP00000436774:I376L;ENSP00000433773:I431L;ENSP00000442139:I19L	ENSP00000442139:I19L	I	-	1	0	ZNF585B	42368988	0.034000	0.19679	0.900000	0.35374	0.859000	0.49053	1.022000	0.30052	1.063000	0.40649	0.254000	0.18369	ATT		0.383	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
ZNF585B	92285	broad.mit.edu	37	19	37678142	37678142	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37678142C>A	ENST00000532828.2	-	5	548	c.297G>T	c.(295-297)gaG>gaT	p.E99D	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E44D|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.E99D	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E99D(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCATAATTTCTCTCCTGTTG	0.333																																					p.E99D	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	19						.						44.0	48.0	46.0					19																	37678142		2201	4280	6481	42369982	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.297G>T	19.37:g.37678142C>A	ENSP00000433773:p.Glu99Asp	Somatic		Capture	Illumina HiSeq	Phase_I	42369982	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	8.482	0.860120	0.17178	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.08546	3.08;3.23;6.62	2.88	1.81	0.25067	.	0.473924	0.15688	N	0.249559	T	0.10981	0.0268	M	0.74546	2.27	0.80722	D	1	B	0.25169	0.119	B	0.25140	0.058	T	0.04693	-1.0933	10	0.27082	T	0.32	.	8.9068	0.35528	0.0:0.8781:0.0:0.1219	.	99	Q52M93	Z585B_HUMAN	D	44;99;99	ENSP00000436774:E44D;ENSP00000433773:E99D;ENSP00000435268:E99D	ENSP00000435268:E99D	E	-	3	2	ZNF585B	42369982	0.993000	0.37304	0.964000	0.40570	0.518000	0.34316	0.687000	0.25407	0.527000	0.28560	-0.391000	0.06502	GAG		0.333	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
HKR1	284459	broad.mit.edu	37	19	37853722	37853722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37853722C>T	ENST00000324411.4	+	6	1294	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	HKR1_ENST00000541583.2_Missense_Mutation_p.S281L|HKR1_ENST00000392153.3_Missense_Mutation_p.S323L|HKR1_ENST00000544914.1_Missense_Mutation_p.S69L|HKR1_ENST00000589392.1_Missense_Mutation_p.S324L|HKR1_ENST00000591471.1_Missense_Mutation_p.S69L|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	342					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S342L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTGGAAGTCGAACCTCTTT	0.493																																					p.S342L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1025T	19						.						100.0	91.0	94.0					19																	37853722		2203	4300	6503	42545562	SO:0001583	missense	284459	exon6			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1025C>T	19.37:g.37853722C>T	ENSP00000315505:p.Ser342Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42545562	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680368	0.47886	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	3.37	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45054	0.1323	L	0.47190	1.495	0.18873	N	0.999982	D;D;D;B	0.89917	0.99;1.0;0.999;0.033	P;D;P;B	0.72338	0.769;0.977;0.862;0.005	T	0.18304	-1.0341	9	0.35671	T	0.21	-2.8228	4.2831	0.10841	0.2239:0.6531:0.0:0.123	.	281;323;342;324	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	L	69;323;378;342;281	ENSP00000437774:S69L;ENSP00000375994:S323L;ENSP00000315505:S342L;ENSP00000438261:S281L	ENSP00000315505:S342L	S	+	2	0	HKR1	42545562	0.000000	0.05858	0.985000	0.45067	0.950000	0.60333	-0.031000	0.12287	0.755000	0.32990	-0.145000	0.13849	TCG		0.493	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
ZNF527	84503	broad.mit.edu	37	19	37880733	37880733	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37880733C>A	ENST00000436120.2	+	5	1889	c.1782C>A	c.(1780-1782)gtC>gtA	p.V594V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V594V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGCTGTGTCTCAGCCCTTA	0.368																																					p.V594V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1782A	19						.						53.0	55.0	54.0					19																	37880733		2065	4233	6298	42572573	SO:0001819	synonymous_variant	84503	exon5			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1782C>A	19.37:g.37880733C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42572573	NM_032453	B4DVL5	Silent	SNP	ENST00000436120.2	37	CCDS42559.1																																																																																				0.368	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
ZNF569	148266	broad.mit.edu	37	19	37903599	37903599	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37903599C>A	ENST00000316950.6	-	6	2518	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R654I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R495I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R654I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGTTTTCTCATATGAAG	0.413																																					p.R654I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1961T	19						.						120.0	122.0	122.0					19																	37903599		2203	4300	6503	42595439	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1961G>T	19.37:g.37903599C>A	ENSP00000325018:p.Arg654Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42595439	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406873	0.62399	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.24908	1.83;1.83	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36519	N	0.002550	T	0.34424	0.0897	M	0.87758	2.905	0.48511	D	0.999669	P;P	0.37573	0.6;0.6	B;B	0.37015	0.239;0.239	T	0.37314	-0.9711	10	0.52906	T	0.07	.	11.02	0.47711	0.1867:0.8133:0.0:0.0	.	495;654	Q17RR6;Q5MCW4	.;ZN569_HUMAN	I	654;310;495	ENSP00000325018:R654I;ENSP00000375993:R495I	ENSP00000325018:R654I	R	-	2	0	ZNF569	42595439	0.002000	0.14202	1.000000	0.80357	0.995000	0.86356	1.049000	0.30392	2.295000	0.77249	0.563000	0.77884	AGA		0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37903906	37903906	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37903906A>G	ENST00000316950.6	-	6	2211	c.1654T>C	c.(1654-1656)Tgt>Cgt	p.C552R	ZNF569_ENST00000392149.2_Missense_Mutation_p.C552R|ZNF569_ENST00000392150.2_Missense_Mutation_p.C393R	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C552R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTTATCACATTCATAAGGC	0.388																																					p.C552R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1654C	19						.						102.0	99.0	100.0					19																	37903906		2203	4300	6503	42595746	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1654T>C	19.37:g.37903906A>G	ENSP00000325018:p.Cys552Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42595746	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294641	0.60086	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	D;D	0.85258	-1.96;-1.96	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95082	0.8407	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96251	0.9183	9	0.87932	D	0	.	12.4758	0.55811	1.0:0.0:0.0:0.0	.	393;552	Q17RR6;Q5MCW4	.;ZN569_HUMAN	R	552;208;393	ENSP00000325018:C552R;ENSP00000375993:C393R	ENSP00000325018:C552R	C	-	1	0	ZNF569	42595746	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	5.844000	0.69430	1.833000	0.53350	0.533000	0.62120	TGT		0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37904646	37904646	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:37904646T>C	ENST00000316950.6	-	6	1471	c.914A>G	c.(913-915)aAa>aGa	p.K305R	ZNF569_ENST00000392149.2_Missense_Mutation_p.K305R|ZNF569_ENST00000392150.2_Missense_Mutation_p.K146R	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K305R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAATGCTTTTCCACACTC	0.383																																					p.K305R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A914G	19						.						114.0	114.0	114.0					19																	37904646		2203	4300	6503	42596486	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.914A>G	19.37:g.37904646T>C	ENSP00000325018:p.Lys305Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42596486	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765810	0.69878	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.35789	1.29;1.29	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	N	0.001191	T	0.45935	0.1367	L	0.31526	0.94	0.44500	D	0.997444	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.44236	-0.9341	10	0.54805	T	0.06	.	12.2407	0.54540	0.0:0.0:0.0:1.0	.	146;305	Q17RR6;Q5MCW4	.;ZN569_HUMAN	R	305;146	ENSP00000325018:K305R;ENSP00000375993:K146R	ENSP00000325018:K305R	K	-	2	0	ZNF569	42596486	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	4.803000	0.62546	1.787000	0.52448	0.533000	0.62120	AAA		0.383	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF571	51276	broad.mit.edu	37	19	38056555	38056555	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38056555C>T	ENST00000328550.2	-	4	874	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.A259T|ZNF571_ENST00000593133.1_Missense_Mutation_p.A259T|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.A259T			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	259					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)	p.A259T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACTAAAGGCTTTTCCACAT	0.383																																					p.A259T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	19						.						55.0	54.0	54.0					19																	38056555		2203	4298	6501	42748395	SO:0001583	missense	51276	exon4			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.775G>A	19.37:g.38056555C>T	ENSP00000333660:p.Ala259Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42748395	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476596	0.26511	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.16897	2.31;2.31;2.31	3.87	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14570	0.0352	N	0.16098	0.37	0.21184	N	0.999767	P	0.52061	0.95	P	0.53760	0.734	T	0.13202	-1.0518	9	0.27082	T	0.32	.	6.2812	0.21009	0.1832:0.713:0.0:0.1038	.	259	Q7Z3V5	ZN571_HUMAN	T	259	ENSP00000333660:A259T;ENSP00000392638:A259T;ENSP00000351594:A259T	ENSP00000333660:A259T	A	-	1	0	ZNF571	42748395	0.000000	0.05858	0.850000	0.33497	0.895000	0.52256	-1.479000	0.02327	0.806000	0.34183	0.313000	0.20887	GCC		0.383	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
ZNF540	163255	broad.mit.edu	37	19	38103725	38103725	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38103725G>T	ENST00000592533.1	+	5	1876	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I	ZNF540_ENST00000343599.5_Missense_Mutation_p.R515I|ZNF540_ENST00000589117.1_Missense_Mutation_p.R483I|ZNF540_ENST00000316433.4_Missense_Mutation_p.R515I	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	515					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R515I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACACCAGAGAATTCACACT	0.358																																					p.R483I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1448T	19						.						75.0	80.0	78.0					19																	38103725		2203	4300	6503	42795565	SO:0001583	missense	163255	exon4			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1544G>T	19.37:g.38103725G>T	ENSP00000466274:p.Arg515Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42795565	NM_001172226	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993519	0.74703	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.24908	1.83	2.39	-3.36	0.04913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20088	0.0483	M	0.63428	1.95	0.25587	N	0.986732	B;B	0.30973	0.257;0.302	B;B	0.24701	0.049;0.055	T	0.22800	-1.0206	9	0.72032	D	0.01	.	4.2107	0.10510	0.1472:0.0:0.4958:0.3571	.	483;515	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	I	515;483	ENSP00000324598:R515I	ENSP00000324598:R515I	R	+	2	0	ZNF540	42795565	0.000000	0.05858	0.028000	0.17463	0.986000	0.74619	-3.539000	0.00437	-0.711000	0.04995	0.305000	0.20034	AGA		0.358	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZFP30	22835	broad.mit.edu	37	19	38126582	38126582	+	Missense_Mutation	SNP	C	C	T	rs376839767		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38126582C>T	ENST00000351218.2	-	6	1417	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	ZFP30_ENST00000392144.1_Missense_Mutation_p.R287Q|ZFP30_ENST00000514101.2_Missense_Mutation_p.R287Q|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	287					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)	p.R287Q(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCTGATGTCGAGTAAGGTG	0.443																																					p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	19						.						124.0	120.0	121.0					19																	38126582		2203	4300	6503	42818422	SO:0001583	missense	22835	exon6			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.860G>A	19.37:g.38126582C>T	ENSP00000343581:p.Arg287Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42818422	NM_014898	Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839023	0.16891	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144	T;T;T	0.07444	3.19;3.19;3.19	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29185	N	0.012893	T	0.10594	0.0259	N	0.25789	0.76	0.24291	N	0.995165	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.25813	-1.0121	10	0.02654	T	1	.	5.8311	0.18581	0.0:0.6944:0.199:0.1065	.	287;287	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	Q	287	ENSP00000343581:R287Q;ENSP00000422930:R287Q;ENSP00000375988:R287Q	ENSP00000343581:R287Q	R	-	2	0	ZFP30	42818422	0.000000	0.05858	0.998000	0.56505	0.955000	0.61496	-1.556000	0.02168	2.223000	0.72356	0.655000	0.94253	CGA		0.443	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
ZNF781	163115	broad.mit.edu	37	19	38160892	38160892	+	Missense_Mutation	SNP	C	C	T	rs542777466	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38160892C>T	ENST00000590008.1	-	5	1010	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.R53Q			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R53Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCGATTATGTTG	0.383													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21068	0.0		0.0	False		,,,				2504	0.0				p.R53Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	19						.						163.0	159.0	160.0					19																	38160892		2203	4300	6503	42852732	SO:0001583	missense	163115	exon4			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.158G>A	19.37:g.38160892C>T	ENSP00000466370:p.Arg53Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42852732	NM_152605	Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692460	0.48202	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.24723	1.84	2.44	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38453	0.1041	M	0.75777	2.31	0.09310	N	1	D	0.76494	0.999	P	0.57960	0.83	T	0.24977	-1.0145	9	0.72032	D	0.01	.	5.6772	0.17755	0.3064:0.5615:0.0:0.1321	.	53	Q8N8C0	ZN781_HUMAN	Q	53	ENSP00000351391:R53Q	ENSP00000351391:R53Q	R	-	2	0	ZNF781	42852732	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.878000	0.28126	-0.648000	0.05437	-1.687000	0.00730	CGA		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605	
ZNF607	84775	broad.mit.edu	37	19	38190784	38190784	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38190784C>A	ENST00000355202.4	-	5	843	c.248G>T	c.(247-249)aGa>aTa	p.R83I	ZNF607_ENST00000395835.3_Missense_Mutation_p.R82I|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R83I	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	83					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)	p.R83I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TATTTCACATCTTGAATCCAA	0.313																																					p.R83I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248T	19						.						43.0	45.0	44.0					19																	38190784		2200	4299	6499	42882624	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.248G>T	19.37:g.38190784C>A	ENSP00000347338:p.Arg83Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42882624	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171832	0.38315	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.05580	3.42;3.43	1.69	0.618	0.17624	.	.	.	.	.	T	0.03053	0.0090	N	0.17838	0.53	0.20638	N	0.999875	P;B	0.44344	0.833;0.267	B;B	0.31946	0.115;0.138	T	0.42207	-0.9465	9	0.59425	D	0.04	.	4.0442	0.09764	0.0:0.7752:0.0:0.2248	.	83;82	Q96SK3;F5H141	ZN607_HUMAN;.	I	83;82	ENSP00000347338:R83I;ENSP00000438015:R82I	ENSP00000347338:R83I	R	-	2	0	ZNF607	42882624	0.000000	0.05858	0.546000	0.28166	0.524000	0.34500	-0.311000	0.08124	0.273000	0.22049	0.484000	0.47621	AGA		0.313	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF573	126231	broad.mit.edu	37	19	38229551	38229551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38229551C>A	ENST00000590414.2	-	4	1861	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	ZNF573_ENST00000357309.3_Nonsense_Mutation_p.E526*|ZNF573_ENST00000392138.1_Nonsense_Mutation_p.E527*|ZNF573_ENST00000339503.4_Nonsense_Mutation_p.E556*|ZNF573_ENST00000536220.1_Nonsense_Mutation_p.E526*			Q86YE8	ZN573_HUMAN	zinc finger protein 573	614					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)	p.E556*(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCCCACATTCTTTACATTCA	0.398																																					p.E612X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1834T	19						.						82.0	83.0	83.0					19																	38229551		2203	4300	6503	42921391	SO:0001587	stop_gained	126231	exon5			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1840G>T	19.37:g.38229551C>A	ENSP00000465020:p.Glu614*	Somatic		Capture	Illumina HiSeq	Phase_I	42921391	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Nonsense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	37	6.222088	0.97390	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	.	.	.	2.36	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.48511	D	0.999665	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.4329	0.11536	0.0:0.5298:0.1683:0.3019	.	.	.	.	X	527;526;526;556;526	.	ENSP00000340171:E556X	E	-	1	0	ZNF573	42921391	0.000000	0.05858	0.008000	0.14137	0.841000	0.47740	-0.374000	0.07484	-0.460000	0.07003	0.580000	0.79431	GAA		0.398	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
CATSPERG	57828	broad.mit.edu	37	19	38857919	38857919	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38857919A>G	ENST00000409235.3	+	23	2852	c.2737A>G	c.(2737-2739)Aac>Gac	p.N913D	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.N873D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	913					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.N553D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGTTAACGTGAACCCGGAGAT	0.577																																					p.N913D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2737G	19						.						138.0	108.0	118.0					19																	38857919		2203	4300	6503	43549759	SO:0001583	missense	57828	exon23			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2737A>G	19.37:g.38857919A>G	ENSP00000386962:p.Asn913Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43549759	NM_021185	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	A	0.471	-0.884580	0.02530	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.28895	1.59;1.59	4.51	2.36	0.29203	.	0.426003	0.19455	N	0.113837	T	0.04998	0.0134	N	0.00128	-2.045	0.45427	D	0.998407	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35773	-0.9775	10	0.02654	T	1	-28.7186	7.1127	0.25399	0.214:0.0:0.786:0.0	.	913;873	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	D	873;913;913	ENSP00000387057:N873D;ENSP00000386962:N913D	ENSP00000386962:N913D	N	+	1	0	CATSPERG	43549759	0.982000	0.34865	0.463000	0.27130	0.049000	0.14656	1.551000	0.36233	0.360000	0.24265	-0.344000	0.07964	AAC		0.577	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
RASGRP4	115727	broad.mit.edu	37	19	38903312	38903312	+	Splice_Site	SNP	G	G	A	rs528875059	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38903312G>A	ENST00000587738.1	-	13	1750	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	RASGRP4_ENST00000426920.2_Splice_Site_p.F371F|RASGRP4_ENST00000433821.2_Splice_Site_p.F468F|RASGRP4_ENST00000587753.1_Splice_Site_p.F491F|RASGRP4_ENST00000293062.9_Splice_Site_p.F463F|RASGRP4_ENST00000454404.2_Splice_Site_p.F526F|RASGRP4_ENST00000586305.1_Splice_Site_p.F546F			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	560					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.F560F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGTGCTCACGAAGCCACTGC	0.592													G|||	24	0.00479233	0.0045	0.0043	5008	,	,		17346	0.003		0.0119	False		,,,				2504	0.0				p.F371F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	19						.						47.0	53.0	51.0					19																	38903312		2067	4199	6266	43595152	SO:0001630	splice_region_variant	115727	exon10			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1680+1C>T	19.37:g.38903312G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43595152	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	CCDS46068.1																																																																																				0.592	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	Silent
RASGRP4	115727	broad.mit.edu	37	19	38910592	38910592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38910592G>A	ENST00000587738.1	-	6	641	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	RASGRP4_ENST00000426920.2_Missense_Mutation_p.R191C|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R191C|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R191C|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R191C|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R191C|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R177C			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	191					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R191C(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACACTTTGCGCTTTTTGCCC	0.632																																					p.R191C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C571T	19						.						37.0	39.0	38.0					19																	38910592		1940	4120	6060	43602432	SO:0001583	missense	115727	exon6			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.571C>T	19.37:g.38910592G>A	ENSP00000465772:p.Arg191Cys	Somatic		Capture	Illumina HiSeq	Phase_I	43602432	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553608	0.65425	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.78	2.68	0.31781	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.49455	1.56	0.53688	D	0.999971	B;B;P;B;P;B;B	0.52316	0.263;0.167;0.952;0.004;0.622;0.094;0.008	B;B;P;B;B;B;B	0.46419	0.031;0.031;0.516;0.002;0.224;0.111;0.004	T	0.04991	-1.0913	10	0.62326	D	0.03	-12.1191	8.7536	0.34633	0.1841:0.0:0.8159:0.0	.	191;191;191;191;191;177;191	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	C	191	ENSP00000411878:R191C;ENSP00000293062:R191C;ENSP00000445966:R191C;ENSP00000416463:R191C	ENSP00000293062:R191C	R	-	1	0	RASGRP4	43602432	0.940000	0.31905	1.000000	0.80357	0.921000	0.55340	0.152000	0.16302	0.634000	0.30469	0.561000	0.74099	CGC		0.632	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
RYR1	6261	broad.mit.edu	37	19	38979834	38979834	+	Silent	SNP	C	C	T	rs61750975	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38979834C>T	ENST00000359596.3	+	35	5565	c.5565C>T	c.(5563-5565)ggC>ggT	p.G1855G	RYR1_ENST00000355481.4_Silent_p.G1855G|RYR1_ENST00000360985.3_Silent_p.G1855G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1855	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1855G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATCTTTGGCGATGAGGATG	0.537													C|||	23	0.00459265	0.0174	0.0	5008	,	,		23559	0.0		0.0	False		,,,				2504	0.0				p.G1855G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5565T	19						.	C	,	66,4340	61.7+/-98.7	1,64,2138	138.0	115.0	123.0		5565,5565	-8.1	0.6	19	dbSNP_129	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	1,65,6437	TT,TC,CC		0.0116,1.498,0.5151	,	1855/5039,1855/5034	38979834	67,12939	2203	4300	6503	43671674	SO:0001819	synonymous_variant	6261	exon35			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5565C>T	19.37:g.38979834C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43671674	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.537	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	38980733	38980733	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38980733G>A	ENST00000359596.3	+	36	5832	c.5832G>A	c.(5830-5832)gaG>gaA	p.E1944E	RYR1_ENST00000355481.4_Silent_p.E1944E|RYR1_ENST00000360985.3_Silent_p.E1944E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1944	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E1944E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCTGCTGGAGTATTTCTGTG	0.582																																					p.E1944E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5832A	19						.						63.0	52.0	56.0					19																	38980733		2203	4300	6503	43672573	SO:0001819	synonymous_variant	6261	exon36			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5832G>A	19.37:g.38980733G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43672573	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	39002998	39002998	+	Missense_Mutation	SNP	C	C	T	rs200238436		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39002998C>T	ENST00000359596.3	+	63	9347	c.9347C>T	c.(9346-9348)tCg>tTg	p.S3116L	RYR1_ENST00000355481.4_Missense_Mutation_p.S3116L|RYR1_ENST00000360985.3_Missense_Mutation_p.S3116L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3116					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S3116L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCAAGGTGTCGCAGGCGCGC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0				p.S3116L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9347T	19						.						64.0	59.0	61.0					19																	39002998		2203	4300	6503	43694838	SO:0001583	missense	6261	exon63			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9347C>T	19.37:g.39002998C>T	ENSP00000352608:p.Ser3116Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43694838	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.57	3.423156	0.62733	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97114	-4.25;-4.25;-4.25	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000003	D	0.94470	0.8220	L	0.58810	1.83	0.40721	D	0.982661	P;P;P	0.46656	0.882;0.882;0.813	B;B;B	0.31337	0.128;0.128;0.06	D	0.95763	0.8802	10	0.87932	D	0	.	16.6833	0.85298	0.0:1.0:0.0:0.0	.	3116;3116;3116	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	L	3116;3116;3116;36	ENSP00000352608:S3116L;ENSP00000347667:S3116L;ENSP00000354254:S3116L	ENSP00000347667:S3116L	S	+	2	0	RYR1	43694838	1.000000	0.71417	0.911000	0.35937	0.984000	0.73092	7.633000	0.83260	2.243000	0.73865	0.591000	0.81541	TCG		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	39062661	39062661	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39062661C>A	ENST00000359596.3	+	95	13749	c.13749C>A	c.(13747-13749)gtC>gtA	p.V4583V	RYR1_ENST00000355481.4_Silent_p.V4578V|RYR1_ENST00000360985.3_Silent_p.V4578V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4583					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.V4583V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CATTTCAGGTCTCAGACTCTC	0.592																																					p.V4583V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13749A	19						.						64.0	61.0	62.0					19																	39062661		2203	4300	6503	43754501	SO:0001819	synonymous_variant	6261	exon95			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13749C>A	19.37:g.39062661C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43754501	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
UBXN6	80700	broad.mit.edu	37	19	4453935	4453935	+	Missense_Mutation	SNP	C	C	T	rs141123683		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:4453935C>T	ENST00000301281.6	-	2	363	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.R27Q	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	80						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R80Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						ACCCTGGTTTCGGATGGTGTC	0.657																																					p.R80Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	19						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	68.0	72.0	71.0		80,239	0.9	1.0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UBXN6	NM_001171091.1,NM_025241.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	27/389,80/442	4453935	1,13005	2203	4300	6503	4404935	SO:0001583	missense	80700	exon2			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.239G>A	19.37:g.4453935C>T	ENSP00000301281:p.Arg80Gln	Somatic		Capture	Illumina HiSeq	Phase_I	4404935	NM_025241	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	5.757	0.324160	0.10900	0.0	1.16E-4	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.47528	0.84;0.84	4.24	0.912	0.19349	.	0.245701	0.38381	N	0.001706	T	0.22166	0.0534	L	0.33668	1.02	0.35799	D	0.82298	B;P	0.42296	0.421;0.775	B;B	0.27380	0.045;0.079	T	0.25745	-1.0123	10	0.14656	T	0.56	-25.0075	5.7716	0.18257	0.0:0.5901:0.0:0.4099	.	27;80	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	Q	80;27	ENSP00000301281:R80Q;ENSP00000378246:R27Q	ENSP00000301281:R80Q	R	-	2	0	UBXN6	4404935	1.000000	0.71417	0.995000	0.50966	0.169000	0.22640	1.685000	0.37659	0.781000	0.33589	0.491000	0.48974	CGA		0.657	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241	
HNRNPL	3191	broad.mit.edu	37	19	39329091	39329091	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39329091G>A	ENST00000221419.5	-	10	1869	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	HNRNPL_ENST00000600873.1_Silent_p.N368N|AC104534.3_ENST00000594769.1_Missense_Mutation_p.T118M	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	501	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.N501N(1)|p.N368N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGTGCAGCACGTTGCTGGGGT	0.597																																					p.N501N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1503T	19						.						74.0	63.0	66.0					19																	39329091		2203	4300	6503	44020931	SO:0001819	synonymous_variant	3191	exon10			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1503C>T	19.37:g.39329091G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44020931	NM_001533	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	CCDS33015.1																																																																																				0.597	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
FBXO27	126433	broad.mit.edu	37	19	39516072	39516072	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39516072G>A	ENST00000292853.4	-	6	950	c.831C>T	c.(829-831)atC>atT	p.I277I	FBXO27_ENST00000509137.2_Silent_p.I277I|FBXO27_ENST00000600828.1_Silent_p.I276I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	277	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.I277I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGACTCGCACGATCACACTGG	0.587																																					p.I277I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C831T	19						.						113.0	98.0	103.0					19																	39516072		2203	4300	6503	44207912	SO:0001819	synonymous_variant	126433	exon6			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.831C>T	19.37:g.39516072G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44207912	NM_178820	Q96C87	Silent	SNP	ENST00000292853.4	37	CCDS12527.1																																																																																				0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1		
PAPL	390928	broad.mit.edu	37	19	39589605	39589605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39589605C>T	ENST00000331256.5	+	4	602	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	PAPL_ENST00000594229.1_Missense_Mutation_p.R110C	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		110						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.R110C(1)									TTCAGTTTATCGCTGTGGCAG	0.652																																					p.R110C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328T	19						.						37.0	41.0	40.0					19																	39589605		2203	4300	6503	44281445	SO:0001583	missense	390928	exon4																														ENST00000331256.5:c.328C>T	19.37:g.39589605C>T	ENSP00000327557:p.Arg110Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44281445	NM_001004318	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465182	0.84425	.	.	ENSG00000183760	ENST00000331256	D	0.82526	-1.62	5.01	3.96	0.45880	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.062474	0.64402	D	0.000004	D	0.91935	0.7446	M	0.92833	3.35	0.53688	D	0.999973	D	0.89917	1.0	D	0.69479	0.964	D	0.92807	0.6261	10	0.87932	D	0	-19.5445	11.5514	0.50723	0.0:0.9102:0.0:0.0898	.	110	Q6ZNF0	PAPL_HUMAN	C	110	ENSP00000327557:R110C	ENSP00000327557:R110C	R	+	1	0	AC011443.1	44281445	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.413000	0.52686	1.076000	0.40961	0.563000	0.77884	CGC		0.652	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
NCCRP1	342897	broad.mit.edu	37	19	39691348	39691348	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39691348G>A	ENST00000339852.4	+	6	802	c.780G>A	c.(778-780)cgG>cgA	p.R260R		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	260	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GTGGGCTGCGGCGGACACGGG	0.627																																					p.R260R	Melanoma(107;1207 1556 14956 29427 52130)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	19						.						180.0	172.0	175.0					19																	39691348		2203	4300	6503	44383188	SO:0001819	synonymous_variant	342897	exon6			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.780G>A	19.37:g.39691348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44383188	NM_001001414	Q6NVV5	Silent	SNP	ENST00000339852.4	37	CCDS12529.1																																																																																				0.627	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414	
IFNL3	282617	broad.mit.edu	37	19	39734329	39734329	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39734329G>T	ENST00000413851.2	-	5	572	c.534C>A	c.(532-534)ctC>ctA	p.L178L		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	178					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.L178L(1)									GGAGGCGGAAGAGGTTGAAGG	0.582																																					p.L178L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	19						.						33.0	33.0	33.0					19																	39734329		2203	4296	6499	44426169	SO:0001819	synonymous_variant	282617	exon5			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.534C>A	19.37:g.39734329G>T		Somatic		Capture	Illumina HiSeq	Phase_I	44426169	NM_172139	A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Silent	SNP	ENST00000413851.2	37	CCDS12530.1																																																																																				0.582	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139	
GMFG	9535	broad.mit.edu	37	19	39826089	39826089	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39826089T>G	ENST00000597595.1	-	2	294	c.86A>C	c.(85-87)aAt>aCt	p.N29T	GMFG_ENST00000598034.1_Missense_Mutation_p.N29T|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000600322.1_5'UTR|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.N29T|GMFG_ENST00000595636.1_Missense_Mutation_p.N29T|GMFG_ENST00000602185.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	29	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)	p.N29T(1)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GATGGCTGCATTGTCTGTCTC	0.572																																					p.N29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A86C	19						.						189.0	142.0	158.0					19																	39826089		2203	4300	6503	44517929	SO:0001583	missense	9535	exon2			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.86A>C	19.37:g.39826089T>G	ENSP00000472249:p.Asn29Thr	Somatic		Capture	Illumina HiSeq	Phase_I	44517929	NM_004877	Q6IB37	Missense_Mutation	SNP	ENST00000597595.1	37	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698309	0.68386	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	4.18	0.49190	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.64402	D	0.000005	T	0.75287	0.3829	M	0.77820	2.39	0.51767	D	0.99993	D;D	0.71674	0.994;0.998	D;D	0.79784	0.984;0.993	T	0.73304	-0.4025	9	0.21014	T	0.42	-19.2907	11.2185	0.48840	0.0:0.0:0.0:1.0	.	29;29	O60234;Q6IB37	GMFG_HUMAN;.	T	29	.	ENSP00000253054:N29T	N	-	2	0	GMFG	44517929	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.936000	0.75892	1.748000	0.51833	0.459000	0.35465	AAT		0.572	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		
SUPT5H	6829	broad.mit.edu	37	19	39949506	39949506	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39949506G>A	ENST00000599117.1	+	7	735	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R123H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R119H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R119H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R123H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	123					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R123H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTGGGGCTCGCCGCCTGCAA	0.577																																					p.R123H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	19						.						79.0	69.0	72.0					19																	39949506		2203	4300	6503	44641346	SO:0001583	missense	6829	exon5			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.368G>A	19.37:g.39949506G>A	ENSP00000470252:p.Arg123His	Somatic		Capture	Illumina HiSeq	Phase_I	44641346	NM_003169	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201329	0.94997	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.56	5.56	0.83823	Spt5 transcription elongation factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.73886	-0.3841	8	.	.	.	-15.6891	18.3088	0.90192	0.0:0.0:1.0:0.0	.	119;123	O00267-2;O00267	.;SPT5H_HUMAN	H	123;119;101;123	.	.	R	+	2	0	SUPT5H	44641346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.609000	0.98334	2.629000	0.89072	0.655000	0.94253	CGC		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
DLL3	10683	broad.mit.edu	37	19	39995992	39995992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39995992G>T	ENST00000205143.4	+	6	1001	c.994G>T	c.(994-996)Gac>Tac	p.D332Y	DLL3_ENST00000356433.5_Missense_Mutation_p.D332Y	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	332	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.D332Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGGGGTGCAGACCCTGACTC	0.642																																					p.D332Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994T	19						.						122.0	108.0	113.0					19																	39995992		2203	4300	6503	44687832	SO:0001583	missense	10683	exon6			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.994G>T	19.37:g.39995992G>T	ENSP00000205143:p.Asp332Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	44687832	NM_203486	E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688153	0.68271	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.91740	-2.9;-2.28	4.87	4.87	0.63330	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.177059	0.27027	N	0.021288	D	0.93612	0.7960	L	0.41824	1.3	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.989	D	0.87620	0.2509	9	.	.	.	.	14.9221	0.70847	0.0:0.0:1.0:0.0	.	332;332;332	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	Y	332	ENSP00000348810:D332Y;ENSP00000205143:D332Y	.	D	+	1	0	DLL3	44687832	0.108000	0.22018	0.998000	0.56505	0.897000	0.52465	2.393000	0.44442	2.238000	0.73509	0.561000	0.74099	GAC		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1		
LRG1	116844	broad.mit.edu	37	19	4538472	4538472	+	Missense_Mutation	SNP	C	C	T	rs138157436	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:4538472C>T	ENST00000306390.6	-	2	984	c.524G>A	c.(523-525)cGc>cAc	p.R175H	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	175					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R175H(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCCGGAGGCGGTTCCCAGA	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16489	0.0		0.001	False		,,,				2504	0.0				p.R175H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524A	19						.	C	HIS/ARG	0,4406		0,0,2203	73.0	84.0	80.0		524	-4.6	0.0	19	dbSNP_134	80	2,8598		0,2,4298	yes	missense	LRG1	NM_052972.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	175/348	4538472	2,13004	2203	4300	6503	4489472	SO:0001583	missense	116844	exon2				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.524G>A	19.37:g.4538472C>T	ENSP00000302621:p.Arg175His	Somatic		Capture	Illumina HiSeq	Phase_I	4489472	NM_052972	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	3.531	-0.095687	0.07010	0.0	2.33E-4	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.59083	0.29	4.71	-4.58	0.03410	.	1.924680	0.02581	N	0.098913	T	0.47451	0.1446	L	0.48935	1.535	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.39881	-0.9592	10	0.52906	T	0.07	-1.2951	5.3535	0.16047	0.1402:0.3272:0.0:0.5326	.	175	P02750	A2GL_HUMAN	H	175;158	ENSP00000302621:R175H	ENSP00000302621:R175H	R	-	2	0	LRG1	4489472	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.904000	0.00702	-0.576000	0.05974	0.655000	0.94253	CGC		0.617	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972	
EID2	163126	broad.mit.edu	37	19	40030438	40030438	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40030438G>A	ENST00000390658.2	-	1	432	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2									p.S94S(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ccgccgccgggctttccctgc	0.796																																					p.S94S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	19						.						5.0	6.0	6.0					19																	40030438		1242	3186	4428	44722278	SO:0001819	synonymous_variant	163126	exon1			BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.282C>T	19.37:g.40030438G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44722278	NM_153232		Silent	SNP	ENST00000390658.2	37	CCDS12540.2																																																																																				0.796	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232	
FCGBP	8857	broad.mit.edu	37	19	40424095	40424095	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40424095T>G	ENST00000221347.6	-	4	2115	c.2108A>C	c.(2107-2109)gAc>gCc	p.D703A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	703						extracellular vesicular exosome (GO:0070062)		p.D703A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACACAGGTCATATACACA	0.642																																					p.D703A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2108C	19						.						118.0	106.0	110.0					19																	40424095		2203	4300	6503	45115935	SO:0001583	missense	8857	exon4			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2108A>C	19.37:g.40424095T>G	ENSP00000221347:p.Asp703Ala	Somatic		Capture	Illumina HiSeq	Phase_I	45115935	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.366151	0.61513	.	.	ENSG00000090920	ENST00000221347	T	0.79749	-1.3	5.43	5.43	0.79202	Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	D	0.000007	D	0.91192	0.7225	M	0.89658	3.05	0.42933	D	0.99432	D	0.89917	1.0	D	0.97110	1.0	D	0.93124	0.6527	10	0.87932	D	0	.	14.4774	0.67557	0.0:0.0:0.0:1.0	.	703	Q9Y6R7	FCGBP_HUMAN	A	703	ENSP00000221347:D703A	ENSP00000221347:D703A	D	-	2	0	FCGBP	45115935	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	8.010000	0.88615	2.066000	0.61787	0.528000	0.53228	GAC		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
ZNF546	339327	broad.mit.edu	37	19	40519592	40519592	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40519592A>G	ENST00000347077.4	+	7	631	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	ZNF546_ENST00000600094.1_Missense_Mutation_p.T113A|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	139					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)	p.T139A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGTATATTACCAAGAATTT	0.323																																					p.T139A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A415G	19						.						20.0	20.0	20.0					19																	40519592		2193	4293	6486	45211432	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.415A>G	19.37:g.40519592A>G	ENSP00000339823:p.Thr139Ala	Somatic		Capture	Illumina HiSeq	Phase_I	45211432	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	0.020	-1.447073	0.01089	.	.	ENSG00000187187	ENST00000347077	T	0.07444	3.19	2.67	0.45	0.16624	.	.	.	.	.	T	0.04452	0.0122	N	0.20401	0.57	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19666	0.026;0.026	T	0.47787	-0.9090	9	0.08381	T	0.77	.	6.1644	0.20382	0.765:0.0:0.235:0.0	.	113;139	B3KVL3;Q86UE3	.;ZN546_HUMAN	A	139	ENSP00000339823:T139A	ENSP00000339823:T139A	T	+	1	0	ZNF546	45211432	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.539000	0.23175	0.022000	0.15160	0.533000	0.62120	ACC		0.323	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520081	40520081	+	Missense_Mutation	SNP	G	G	A	rs202247234		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40520081G>A	ENST00000347077.4	+	7	1120	c.904G>A	c.(904-906)Gag>Aag	p.E302K	ZNF546_ENST00000600094.1_Missense_Mutation_p.E276K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	302					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)	p.E302K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAACCCTACGAGTGTAAGGA	0.418																																					p.E302K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	19						.	G	LYS/GLU	0,4406		0,0,2203	98.0	101.0	100.0		904	0.4	0.9	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF546	NM_178544.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	302/837	40520081	1,13005	2203	4300	6503	45211921	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.904G>A	19.37:g.40520081G>A	ENSP00000339823:p.Glu302Lys	Somatic		Capture	Illumina HiSeq	Phase_I	45211921	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	8.406	0.843065	0.16963	0.0	1.16E-4	ENSG00000187187	ENST00000347077	T	0.35605	1.3	2.7	0.4	0.16331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	N	0.01668	-0.77	0.09310	N	1	B;B	0.28178	0.202;0.001	B;B	0.10450	0.005;0.002	T	0.28839	-1.0031	9	0.18276	T	0.48	.	5.6591	0.17658	0.1285:0.2116:0.6599:0.0	.	276;302	B3KVL3;Q86UE3	.;ZN546_HUMAN	K	302	ENSP00000339823:E302K	ENSP00000339823:E302K	E	+	1	0	ZNF546	45211921	0.000000	0.05858	0.936000	0.37596	0.949000	0.60115	-1.187000	0.03067	0.167000	0.19631	-0.126000	0.14955	GAG		0.418	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520417	40520417	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40520417G>A	ENST00000347077.4	+	7	1456	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ZNF546_ENST00000600094.1_Missense_Mutation_p.E388K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	414					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)	p.E414K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAACCCTACGAATGTAAAGA	0.388																																					p.E414K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	19						.						41.0	42.0	41.0					19																	40520417		2203	4300	6503	45212257	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1240G>A	19.37:g.40520417G>A	ENSP00000339823:p.Glu414Lys	Somatic		Capture	Illumina HiSeq	Phase_I	45212257	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726365	0.30593	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.06608	3.28	2.76	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01353	0.0044	N	0.01250	-0.93	0.09310	N	1	P;B	0.40875	0.731;0.002	B;B	0.33521	0.165;0.003	T	0.33163	-0.9879	9	0.17832	T	0.49	.	0.6269	0.00788	0.326:0.1721:0.3277:0.1742	.	388;414	B3KVL3;Q86UE3	.;ZN546_HUMAN	K	414;51	ENSP00000339823:E414K	ENSP00000339823:E414K	E	+	1	0	ZNF546	45212257	0.000000	0.05858	0.887000	0.34795	0.989000	0.77384	-1.878000	0.01630	-0.381000	0.07882	0.655000	0.94253	GAA		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520811	40520811	+	Missense_Mutation	SNP	G	G	T	rs145376946	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40520811G>T	ENST00000347077.4	+	7	1850	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	ZNF546_ENST00000600094.1_Missense_Mutation_p.R519I|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	545					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)	p.R545I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGACATCACAGAATTCATACA	0.398													G|||	7	0.00139776	0.0053	0.0	5008	,	,		22145	0.0		0.0	False		,,,				2504	0.0				p.R545I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1634T	19						.	G	ILE/ARG	13,4393	20.2+/-43.8	0,13,2190	65.0	61.0	63.0		1634	2.0	1.0	19	dbSNP_134	63	0,8600		0,0,4300	yes	missense	ZNF546	NM_178544.3	97	0,13,6490	TT,TG,GG		0.0,0.2951,0.1	possibly-damaging	545/837	40520811	13,12993	2203	4300	6503	45212651	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1634G>T	19.37:g.40520811G>T	ENSP00000339823:p.Arg545Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45212651	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	15.75	2.925739	0.52759	0.002951	0.0	ENSG00000187187	ENST00000347077	T	0.24908	1.83	3.0	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19406	0.0466	M	0.74258	2.255	0.35632	D	0.810288	B	0.30870	0.298	B	0.33196	0.159	T	0.29150	-1.0021	9	0.66056	D	0.02	.	3.6215	0.08097	0.1339:0.0:0.6207:0.2454	.	545	Q86UE3	ZN546_HUMAN	I	545	ENSP00000339823:R545I	ENSP00000339823:R545I	R	+	2	0	ZNF546	45212651	.	.	0.991000	0.47740	0.996000	0.88848	.	.	0.817000	0.34445	0.655000	0.94253	AGA		0.398	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A	rs373735181		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					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)	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363																																					p.R619Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	19						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	48.0	47.0		1856	1.8	0.1	19		47	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	619/837	40521033	1,13005	2203	4300	6503	45212873	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1856G>A	19.37:g.40521033G>A	ENSP00000339823:p.Arg619Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45212873	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	ZNF546	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA		0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40521147	40521147	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40521147G>T	ENST00000347077.4	+	7	2186	c.1970G>T	c.(1969-1971)aGa>aTa	p.R657I	ZNF546_ENST00000600094.1_Missense_Mutation_p.R631I|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	657					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)	p.R657I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAACATCACAGAATTCATACT	0.433																																					p.R657I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1970T	19						.						71.0	66.0	68.0					19																	40521147		2203	4300	6503	45212987	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1970G>T	19.37:g.40521147G>T	ENSP00000339823:p.Arg657Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45212987	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	14.93	2.682522	0.47991	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.24908	1.83	2.68	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38188	0.1031	M	0.75264	2.295	0.40193	D	0.977423	D	0.59357	0.985	P	0.57468	0.821	T	0.26815	-1.0092	9	0.59425	D	0.04	.	4.6624	0.12648	0.3005:0.0:0.6995:0.0	.	657	Q86UE3	ZN546_HUMAN	I	657;266	ENSP00000339823:R657I	ENSP00000339823:R657I	R	+	2	0	ZNF546	45212987	0.000000	0.05858	0.817000	0.32601	0.970000	0.65996	0.597000	0.24059	0.687000	0.31509	0.591000	0.81541	AGA		0.433	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF780B	163131	broad.mit.edu	37	19	40540685	40540685	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40540685G>A	ENST00000434248.1	-	5	2146	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.A546V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	694					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)	p.A694V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGGGTTTCGCACTGGAATG	0.388																																					p.A694V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2081T	19						.						78.0	85.0	83.0					19																	40540685		2188	4296	6484	45232525	SO:0001583	missense	163131	exon5			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2081C>T	19.37:g.40540685G>A	ENSP00000391641:p.Ala694Val	Somatic		Capture	Illumina HiSeq	Phase_I	45232525	NM_001005851	B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	t	29.9	5.043527	0.93685	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.14766	2.48;2.48	2.56	1.53	0.23141	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.11023	0.085	0.23186	N	0.998158	B	0.10296	0.003	B	0.10450	0.005	T	0.34004	-0.9846	9	0.72032	D	0.01	.	6.8145	0.23822	0.0:0.0:0.2407:0.7593	.	694	Q9Y6R6	Z780B_HUMAN	V	694;546	ENSP00000391641:A694V;ENSP00000221355:A546V	ENSP00000221355:A546V	A	-	2	0	ZNF780B	45232525	0.292000	0.24362	0.664000	0.29753	0.745000	0.42441	0.598000	0.24074	0.134000	0.18681	-0.532000	0.04303	GCG		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
ZNF780A	284323	broad.mit.edu	37	19	40580706	40580706	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40580706C>T	ENST00000595687.2	-	6	1852	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R548Q|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R549Q|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R549Q|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R514Q|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	548					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)	p.R514Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATGAATACTTCGATGTTGATT	0.378																																					p.R548Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1643A	19						.						109.0	116.0	113.0					19																	40580706		2203	4299	6502	45272546	SO:0001583	missense	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1643G>A	19.37:g.40580706C>T	ENSP00000472189:p.Arg548Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45272546	NM_001010880	E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	c	3.710	-0.059800	0.07317	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.17691	2.26;2.26	1.93	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.03881	-0.34	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.08055	0.003;0.002	T	0.41466	-0.9507	9	0.02654	T	1	.	4.727	0.12946	0.0:0.2024:0.0:0.7976	.	549;548	E9PB48;O75290	.;Z780A_HUMAN	Q	548;549;548	ENSP00000400997:R549Q;ENSP00000341507:R548Q	ENSP00000341507:R548Q	R	-	2	0	ZNF780A	45272546	0.000000	0.05858	0.004000	0.12327	0.973000	0.67179	-2.284000	0.01154	0.014000	0.14944	0.313000	0.20887	CGA		0.378	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
ZNF780A	284323	broad.mit.edu	37	19	40581662	40581662	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40581662G>T	ENST00000595687.2	-	6	896	c.687C>A	c.(685-687)gcC>gcA	p.A229A	ZNF780A_ENST00000340963.5_Silent_p.A229A|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.A230A|ZNF780A_ENST00000455521.1_Silent_p.A230A|ZNF780A_ENST00000450241.2_Silent_p.A195A|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	229					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)	p.A195A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAGACTAAAGGCCTTTCCAC	0.398																																					p.A229A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687A	19						.						105.0	105.0	105.0					19																	40581662		2203	4300	6503	45273502	SO:0001819	synonymous_variant	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.687C>A	19.37:g.40581662G>T		Somatic		Capture	Illumina HiSeq	Phase_I	45273502	NM_001010880	E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	CCDS33026.2																																																																																				0.398	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
ZNF780A	284323	broad.mit.edu	37	19	40581741	40581741	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40581741C>T	ENST00000595687.2	-	6	817	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R203Q|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R204Q|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R204Q|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R169Q|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	203					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)	p.R169Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGTGAAGTCGAAAGGCTTT	0.388																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	19						.						82.0	81.0	82.0					19																	40581741		2203	4300	6503	45273581	SO:0001583	missense	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.608G>A	19.37:g.40581741C>T	ENSP00000472189:p.Arg203Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45273581	NM_001010880	E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747175	0.30955	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.15718	2.4;2.4	1.92	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15609	0.0376	M	0.62016	1.91	0.09310	N	1	B;B	0.26935	0.015;0.164	B;B	0.17098	0.005;0.017	T	0.19712	-1.0297	9	0.40728	T	0.16	.	6.1114	0.20102	0.0:0.819:0.0:0.181	.	204;203	E9PB48;O75290	.;Z780A_HUMAN	Q	203;204;203	ENSP00000400997:R204Q;ENSP00000341507:R203Q	ENSP00000341507:R203Q	R	-	2	0	ZNF780A	45273581	0.000000	0.05858	0.010000	0.14722	0.943000	0.58893	-1.183000	0.03079	0.119000	0.18210	0.305000	0.20034	CGA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
AKT2	208	broad.mit.edu	37	19	40747962	40747962	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40747962G>A	ENST00000392038.2	-	6	754	c.456C>T	c.(454-456)ttC>ttT	p.F152F	AKT2_ENST00000424901.1_Silent_p.F152F|AKT2_ENST00000311278.6_Silent_p.F152F|AKT2_ENST00000579047.1_Silent_p.F90F	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.F152F(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGAGATAGTCGAAGTCATTCA	0.547			A		"""ovarian, pancreatic """																																p.F152F			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	19						.						84.0	76.0	79.0					19																	40747962		2203	4300	6503	45439802	SO:0001819	synonymous_variant	208	exon6			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.456C>T	19.37:g.40747962G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45439802	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	CCDS12552.1																																																																																				0.547	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
PLD3	23646	broad.mit.edu	37	19	40882563	40882563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:40882563G>A	ENST00000409587.1	+	11	1464	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	PLD3_ENST00000409419.1_Missense_Mutation_p.R356H|PLD3_ENST00000409735.4_Missense_Mutation_p.R356H|PLD3_ENST00000409281.1_Missense_Mutation_p.R356H|PLD3_ENST00000356508.5_Missense_Mutation_p.R356H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	356					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.R303H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ACCTACGAGCGTGGCGTCAAG	0.652																																					p.R356H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	19						.						75.0	71.0	72.0					19																	40882563		2203	4300	6503	45574403	SO:0001583	missense	23646	exon11			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1067G>A	19.37:g.40882563G>A	ENSP00000387050:p.Arg356His	Somatic		Capture	Illumina HiSeq	Phase_I	45574403	NM_001031696	Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	g	15.73	2.919521	0.52653	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	4.28	4.28	0.50868	Phospholipase D/viral envelope (1);	0.185713	0.42682	D	0.000674	T	0.74129	0.3676	M	0.84082	2.675	0.53688	D	0.999975	D	0.59357	0.985	P	0.58820	0.846	T	0.79235	-0.1887	10	0.59425	D	0.04	-16.247	15.6498	0.77081	0.0:0.0:1.0:0.0	.	356	Q8IV08	PLD3_HUMAN	H	356;356;356;337;356;356	ENSP00000386293:R356H;ENSP00000387050:R356H;ENSP00000348901:R356H;ENSP00000386938:R356H;ENSP00000387022:R356H	ENSP00000348901:R356H	R	+	2	0	PLD3	45574403	0.053000	0.20554	1.000000	0.80357	0.380000	0.30137	1.039000	0.30266	2.241000	0.73720	0.306000	0.20318	CGT		0.652	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268	
SHKBP1	92799	broad.mit.edu	37	19	41097003	41097003	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41097003C>T	ENST00000291842.5	+	18	2063	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R647W|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	672					protein homooligomerization (GO:0051260)			p.R672W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACTGGTGCGGAGTGGGCC	0.687																																					p.R672W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2014T	19						.						39.0	42.0	41.0					19																	41097003		2200	4298	6498	45788843	SO:0001583	missense	92799	exon18			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.2014C>T	19.37:g.41097003C>T	ENSP00000291842:p.Arg672Trp	Somatic		Capture	Illumina HiSeq	Phase_I	45788843	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186344	0.57909	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.49139	0.79	4.72	3.66	0.41972	.	0.094559	0.42294	D	0.000730	T	0.51126	0.1656	L	0.47716	1.5	0.34674	D	0.724046	D;P;D;D;D	0.69078	0.997;0.95;0.997;0.99;0.99	P;B;P;B;B	0.53401	0.725;0.406;0.725;0.333;0.336	T	0.66528	-0.5901	10	0.87932	D	0	-28.0764	11.5705	0.50830	0.1865:0.8135:0.0:0.0	.	550;452;509;672;672	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	W	672;452	ENSP00000291842:R672W	ENSP00000291842:R672W	R	+	1	2	SHKBP1	45788843	0.940000	0.31905	0.237000	0.24090	0.959000	0.62525	1.987000	0.40687	1.148000	0.42385	0.561000	0.74099	CGG		0.687	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
LTBP4	8425	broad.mit.edu	37	19	41132928	41132928	+	Missense_Mutation	SNP	C	C	A	rs199678003	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41132928C>A	ENST00000308370.7	+	32	4232	c.4232C>A	c.(4231-4233)cCc>cAc	p.P1411H	LTBP4_ENST00000396819.3_Missense_Mutation_p.P1344H|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1374H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.P779H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1412	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P1411H(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATATAGCCCCCCGCGACCA	0.622																																					p.P1412T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4234A	19						.						31.0	36.0	34.0					19																	41132928		1968	4131	6099	45824768	SO:0001583	missense	8425	exon31			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4232C>A	19.37:g.41132928C>A	ENSP00000311905:p.Pro1411His	Somatic		Capture	Illumina HiSeq	Phase_I	45824768	NM_001042544	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	14.77	2.635981	0.47049	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83335	-1.34;-1.71;-1.35;-1.34	4.58	4.58	0.56647	Matrix fibril-associated (1);	0.000000	0.36740	N	0.002427	D	0.89945	0.6862	.	.	.	0.44694	D	0.99768	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.998;0.998	D;D;D;D;D;D	0.91635	0.999;0.999;0.994;0.994;0.936;0.936	D	0.89696	0.3901	9	0.44086	T	0.13	.	14.3917	0.66983	0.0:1.0:0.0:0.0	.	172;424;632;1344;1412;1374	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1374;779;1411;1344;172	ENSP00000204005:P1374H;ENSP00000441054:P779H;ENSP00000311905:P1411H;ENSP00000380031:P1344H	ENSP00000204005:P1374H	P	+	2	0	LTBP4	45824768	0.984000	0.35163	0.941000	0.38009	0.302000	0.27658	2.963000	0.49184	2.371000	0.80710	0.462000	0.41574	CCC		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
ITPKC	80271	broad.mit.edu	37	19	41235265	41235265	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41235265G>T	ENST00000263370.2	+	3	1447	c.1414G>T	c.(1414-1416)Gac>Tac	p.D472Y		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	472					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.D472Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGATGGAAGACCTCCTGGC	0.632																																					p.D472Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414T	19						.						56.0	51.0	52.0					19																	41235265		2203	4300	6503	45927105	SO:0001583	missense	80271	exon3			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1414G>T	19.37:g.41235265G>T	ENSP00000263370:p.Asp472Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	45927105	NM_025194	Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665792	0.67700	.	.	ENSG00000086544	ENST00000263370	T	0.24151	1.87	5.49	5.49	0.81192	.	0.047216	0.85682	D	0.000000	T	0.63757	0.2538	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73341	-0.4013	10	0.87932	D	0	-22.8373	18.5144	0.90930	0.0:0.0:1.0:0.0	.	472	Q96DU7	IP3KC_HUMAN	Y	472	ENSP00000263370:D472Y	ENSP00000263370:D472Y	D	+	1	0	ITPKC	45927105	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.721000	0.98766	2.746000	0.94184	0.561000	0.74099	GAC		0.632	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194	
CYP2A6	1548	broad.mit.edu	37	19	41351888	41351888	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41351888G>A	ENST00000301141.5	-	6	966	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	316					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.L316L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TTCATGAGCAGCAAGAAGCCA	0.577																																					p.L316L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C946T	19						.						77.0	69.0	72.0					19																	41351888		2203	4300	6503	46043728	SO:0001819	synonymous_variant	1548	exon6			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.946C>T	19.37:g.41351888G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46043728	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	CCDS12568.1																																																																																				0.577	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
CYP2A6	1548	broad.mit.edu	37	19	41352942	41352942	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41352942G>T	ENST00000301141.5	-	5	689	c.669C>A	c.(667-669)ttC>ttA	p.F223L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	223					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.F223L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCACCGAAGAGAACATCTCAT	0.542																																					p.F223L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C669A	19						.						51.0	43.0	45.0					19																	41352942		2203	4298	6501	46044782	SO:0001583	missense	1548	exon5			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.669C>A	19.37:g.41352942G>T	ENSP00000301141:p.Phe223Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46044782	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	14.23	2.473997	0.43942	.	.	ENSG00000255974	ENST00000301141	T	0.70516	-0.49	2.37	-1.59	0.08453	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	L	0.55481	1.735	0.23204	N	0.998123	P;D	0.76494	0.926;0.999	P;D	0.78314	0.555;0.991	T	0.65315	-0.6198	10	0.51188	T	0.08	.	7.1618	0.25669	0.4821:0.0:0.5179:0.0	.	223;223	Q13120;P11509	.;CP2A6_HUMAN	L	223	ENSP00000301141:F223L	ENSP00000301141:F223L	F	-	3	2	CYP2A6	46044782	0.026000	0.19158	0.575000	0.28536	0.851000	0.48451	0.148000	0.16224	-0.417000	0.07461	0.386000	0.25728	TTC		0.542	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
CYP2A7	1549	broad.mit.edu	37	19	41386048	41386048	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41386048G>T	ENST00000301146.4	-	4	1136	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	CYP2A7_ENST00000291764.3_Missense_Mutation_p.L148M|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	199						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.L199M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCAGTGACAGGAACTCTTTG	0.557																																					p.L199M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595A	19						.						157.0	131.0	140.0					19																	41386048		2203	4300	6503	46077888	SO:0001583	missense	1549	exon4			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.595C>A	19.37:g.41386048G>T	ENSP00000301146:p.Leu199Met	Somatic		Capture	Illumina HiSeq	Phase_I	46077888	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	g	10.38	1.332903	0.24167	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69926	-0.44;-0.44	2.16	1.07	0.20283	.	0.000000	0.64402	U	0.000005	T	0.76069	0.3936	M	0.75150	2.29	0.22435	N	0.999108	D;D;D	0.71674	0.992;0.998;0.979	D;D;D	0.70016	0.929;0.967;0.955	T	0.65117	-0.6246	10	0.62326	D	0.03	.	7.6568	0.28379	0.1438:0.0:0.8562:0.0	.	199;148;199	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	M	199;148	ENSP00000301146:L199M;ENSP00000291764:L148M	ENSP00000291764:L148M	L	-	1	2	CYP2A7	46077888	0.942000	0.31987	0.932000	0.37286	0.087000	0.18053	1.290000	0.33319	0.245000	0.21373	0.175000	0.17021	CTG		0.557	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
CYP2A13	1553	broad.mit.edu	37	19	41599561	41599561	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41599561C>A	ENST00000330436.3	+	6	858	c.858C>A	c.(856-858)ttC>ttA	p.F286L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	286					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F286L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACACAGAGTTCTACTTGAAGA	0.557																																					p.F286L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C858A	19						.						106.0	89.0	95.0					19																	41599561		2203	4300	6503	46291401	SO:0001583	missense	1553	exon6			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.858C>A	19.37:g.41599561C>A	ENSP00000332679:p.Phe286Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46291401	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.185330	0.57909	.	.	ENSG00000197838	ENST00000330436	T	0.61980	0.06	4.58	1.14	0.20703	.	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	L	0.41961	1.31	0.19575	N	0.999962	D	0.89917	1.0	D	0.81914	0.995	T	0.57533	-0.7795	10	0.87932	D	0	.	8.0624	0.30640	0.0:0.6591:0.0:0.3409	.	286	Q16696	CP2AD_HUMAN	L	286	ENSP00000332679:F286L	ENSP00000332679:F286L	F	+	3	2	CYP2A13	46291401	0.002000	0.14202	0.327000	0.25402	0.722000	0.41435	0.022000	0.13511	0.179000	0.19938	0.485000	0.47835	TTC		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
DPP9	91039	broad.mit.edu	37	19	4702059	4702059	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:4702059G>A	ENST00000598800.1	-	10	1410	c.905C>T	c.(904-906)tCg>tTg	p.S302L	DPP9_ENST00000262960.9_Missense_Mutation_p.S331L|DPP9_ENST00000597849.1_Missense_Mutation_p.S331L|DPP9_ENST00000594671.1_Missense_Mutation_p.S302L			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	302						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.S410L(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTACCGATACGAGTCCGTCTT	0.622																																					p.S331L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992T	19						.						99.0	109.0	106.0					19																	4702059		2029	4185	6214	4653059	SO:0001583	missense	91039	exon9			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.905C>T	19.37:g.4702059G>A	ENSP00000469603:p.Ser302Leu	Somatic		Capture	Illumina HiSeq	Phase_I	4653059	NM_139159	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	G	14.09	2.430722	0.43122	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.33216	1.42	4.67	3.62	0.41486	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.323535	0.32719	N	0.005739	T	0.28366	0.0701	L	0.50333	1.59	0.42524	D	0.993014	B;P	0.35192	0.371;0.489	B;B	0.32624	0.067;0.149	T	0.12167	-1.0558	10	0.46703	T	0.11	-22.4571	14.0183	0.64539	0.0:0.1523:0.8477:0.0	.	302;331	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	L	410;272;331	ENSP00000262960:S331L	ENSP00000262960:S331L	S	-	2	0	DPP9	4653059	1.000000	0.71417	0.276000	0.24689	0.003000	0.03518	5.261000	0.65496	1.171000	0.42768	0.655000	0.94253	TCG		0.622	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		
CYP2S1	29785	broad.mit.edu	37	19	41709405	41709405	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41709405A>C	ENST00000310054.4	+	7	1243	c.1027A>C	c.(1027-1029)Agc>Cgc	p.S343R	CYP2S1_ENST00000542619.1_Missense_Mutation_p.S68R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	343					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S343R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCAGGCACCAAGCCTAGGGGA	0.667																																					p.S343R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1027C	19						.						33.0	31.0	31.0					19																	41709405		2200	4300	6500	46401245	SO:0001583	missense	29785	exon7			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1027A>C	19.37:g.41709405A>C	ENSP00000308032:p.Ser343Arg	Somatic		Capture	Illumina HiSeq	Phase_I	46401245	NM_030622	Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980464	0.34942	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	T;T	0.01397	4.94;4.94	5.02	-4.49	0.03504	.	1.475580	0.04049	N	0.304408	T	0.01765	0.0056	L	0.39020	1.185	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.18871	0.023;0.021	T	0.45891	-0.9230	10	0.28530	T	0.3	.	12.3909	0.55358	0.6707:0.0:0.3293:0.0	.	68;343	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	R	343;343;68	ENSP00000308032:S343R;ENSP00000445299:S68R	ENSP00000301173:S343R	S	+	1	0	CYP2S1	46401245	0.000000	0.05858	0.003000	0.11579	0.514000	0.34195	-2.080000	0.01368	-0.742000	0.04790	-0.384000	0.06662	AGC		0.667	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1		
BCKDHA	593	broad.mit.edu	37	19	41916689	41916689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41916689G>T	ENST00000269980.2	+	2	624	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	BCKDHA_ENST00000595085.1_Missense_Mutation_p.G120C|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G120C|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G64C|CTC-435M10.3_ENST00000604424.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	86					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.G86C(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGACCGGCAAGGCCAGATCAT	0.627																																					p.G86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256T	19						.						62.0	64.0	64.0					19																	41916689		2203	4300	6503	46608529	SO:0001583	missense	593	exon2			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.256G>T	19.37:g.41916689G>T	ENSP00000269980:p.Gly86Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46608529	NM_001164783	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.850166|4.850166	0.91277|0.91277	.|.	.|.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098|ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196|ENST00000541315	D;D;D;D|.	0.99194|.	-5.54;-5.54;-5.54;-5.54|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74176|0.74176	0.3682|0.3682	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.992;1.0;0.995;0.965|.	P;D;P;D|.	0.83275|.	0.844;0.996;0.811;0.937|.	T|T	0.72940|0.72940	-0.4139|-0.4139	10|5	0.87932|.	D|.	0|.	-41.0027|-41.0027	17.9433|17.9433	0.89031|0.89031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	64;86;86;120|.	B4DP47;Q59EI3;P12694;F5H5P2|.	.;.;ODBA_HUMAN;.|.	C|N	120;86;86;64;86|21	ENSP00000443246:G120C;ENSP00000269980:G86C;ENSP00000440345:G86C;ENSP00000416000:G64C|.	ENSP00000269980:G86C|.	G|K	+|+	1|3	0|2	BCKDHA;CTC-435M10.3|BCKDHA	46608529|46608529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.316000|9.316000	0.96319|0.96319	2.550000|2.550000	0.86006|0.86006	0.643000|0.643000	0.83706|0.83706	GGC|AAG		0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709	
CEACAM7	1087	broad.mit.edu	37	19	42181373	42181373	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42181373C>A	ENST00000006724.3	-	4	966	c.765G>T	c.(763-765)atG>atT	p.M255I	CEACAM7_ENST00000401731.1_Missense_Mutation_p.M255I|CEACAM7_ENST00000338196.4_Missense_Mutation_p.M162I|CEACAM7_ENST00000602225.1_Missense_Mutation_p.M162I	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	255						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M255I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTACTCCAATCATGATGCTGA	0.453																																					p.M255I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G765T	19						.						132.0	111.0	118.0					19																	42181373		2203	4300	6503	46873213	SO:0001583	missense	1087	exon4			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.765G>T	19.37:g.42181373C>A	ENSP00000006724:p.Met255Ile	Somatic		Capture	Illumina HiSeq	Phase_I	46873213	NM_006890	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	5.300	0.240664	0.10023	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.11821	2.74;2.74;5.55	2.2	-0.315	0.12746	.	.	.	.	.	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.002;0.001	T	0.35674	-0.9779	9	0.39692	T	0.17	.	3.2595	0.06844	0.0:0.5412:0.2784:0.1803	.	162;255	Q14002-2;Q14002	.;CEAM7_HUMAN	I	255;234;255;162	ENSP00000006724:M255I;ENSP00000385932:M255I;ENSP00000343286:M162I	ENSP00000006724:M255I	M	-	3	0	CEACAM7	46873213	0.314000	0.24563	0.002000	0.10522	0.321000	0.28281	0.221000	0.17680	-0.139000	0.11414	0.305000	0.20034	ATG		0.453	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
CEACAM5	1048	broad.mit.edu	37	19	42219138	42219138	+	Missense_Mutation	SNP	C	C	T	rs150900406	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42219138C>T	ENST00000221992.6	+	3	787	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R225C|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R225C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	225	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R225C(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GAGTGCCAGGCGCAGTGATTC	0.522																																					p.R225C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	19						.						159.0	146.0	150.0					19																	42219138		2203	4300	6503	46910978	SO:0001583	missense	1048	exon3			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.673C>T	19.37:g.42219138C>T	ENSP00000221992:p.Arg225Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46910978	NM_004363	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.21|12.21	1.870741|1.870741	0.33069|0.33069	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.44083	.|0.93;0.93	2.94|2.94	1.64|1.64	0.23874|0.23874	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.82823|0.82823	2.61|2.61	0.09310|0.09310	N|N	1|1	.|D;D;P	.|0.76494	.|0.999;0.988;0.872	.|D;P;B	.|0.70016	.|0.967;0.771;0.33	T|T	0.44757|0.44757	-0.9307|-0.9307	5|9	.|0.87932	.|D	.|0	.|.	6.0375|6.0375	0.19716|0.19716	0.4025:0.5975:0.0:0.0|0.4025:0.5975:0.0:0.0	.|.	.|225;225;225	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	V|C	221|225	.|ENSP00000221992:R225C;ENSP00000385072:R225C	.|ENSP00000221992:R225C	A|R	+|+	2|1	0|0	CEACAM5|CEACAM5	46910978|46910978	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.033000|0.033000	0.13754|0.13754	1.379000|1.379000	0.46325|0.46325	0.195000|0.195000	0.17529|0.17529	GCG|CGC		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
CEACAM5	1048	broad.mit.edu	37	19	42224988	42224988	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42224988C>A	ENST00000221992.6	+	8	2032	c.1918C>A	c.(1918-1920)Ctc>Atc	p.L640I	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L640I|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L639I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	640	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.L640I(2)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACACAAGTTCTCTTTATCGC	0.493																																					p.L640I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1918A	19						.						216.0	172.0	187.0					19																	42224988		2203	4300	6503	46916828	SO:0001583	missense	1048	exon8			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1918C>A	19.37:g.42224988C>A	ENSP00000221992:p.Leu640Ile	Somatic		Capture	Illumina HiSeq	Phase_I	46916828	NM_004363	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.722260|2.722260	0.48728|0.48728	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.29917|.	1.55;1.55|.	2.44|2.44	2.44|2.44	0.29823|0.29823	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.65954|0.65954	0.2741|0.2741	M|M	0.91090|0.91090	3.175|3.175	0.09310|0.09310	N|N	0.999999|0.999999	P;D|.	0.71674|.	0.953;0.998|.	P;D|.	0.83275|.	0.649;0.996|.	T|T	0.57854|0.57854	-0.7739|-0.7739	9|5	0.87932|.	D|.	0|.	.|.	8.474|8.474	0.33001|0.33001	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	640;640|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	I|Y	640;640;358|635	ENSP00000221992:L640I;ENSP00000385072:L640I|.	ENSP00000221992:L640I|.	L|S	+|+	1|2	0|0	CEACAM5|CEACAM5	46916828|46916828	0.027000|0.027000	0.19231|0.19231	0.396000|0.396000	0.26296|0.26296	0.006000|0.006000	0.05464|0.05464	0.690000|0.690000	0.25451|0.25451	1.656000|1.656000	0.50722|0.50722	0.467000|0.467000	0.42956|0.42956	CTC|TCT		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
ATP1A3	478	broad.mit.edu	37	19	42485680	42485680	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42485680G>A	ENST00000302102.5	-	11	1561	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	ATP1A3_ENST00000602133.1_Missense_Mutation_p.P441S|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P482S|ATP1A3_ENST00000545399.1_Missense_Mutation_p.P484S	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	471					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.P471S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAATTGAAGGGAATCTCAGCC	0.547																																					p.P471S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1411T	19						.						112.0	98.0	102.0					19																	42485680		2203	4300	6503	47177520	SO:0001583	missense	478	exon11				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1411C>T	19.37:g.42485680G>A	ENSP00000302397:p.Pro471Ser	Somatic		Capture	Illumina HiSeq	Phase_I	47177520	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357496	0.82243	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.02	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054070	0.85682	D	0.000000	D	0.94860	0.8339	M	0.89163	3.01	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.95443	0.8527	10	0.87932	D	0	.	14.4531	0.67399	0.0:0.0:1.0:0.0	.	484;482;471;471	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	S	471;471;484;441;215;482	ENSP00000302397:P471S;ENSP00000411503:P471S;ENSP00000444688:P484S;ENSP00000437577:P482S	ENSP00000302397:P471S	P	-	1	0	ATP1A3	47177520	1.000000	0.71417	0.994000	0.49952	0.823000	0.46562	9.567000	0.98161	2.537000	0.85549	0.561000	0.74099	CCC		0.547	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
GRIK5	2901	broad.mit.edu	37	19	42558011	42558011	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42558011C>T	ENST00000262895.3	-	9	1126	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	GRIK5_ENST00000301218.4_Missense_Mutation_p.R376H|GRIK5_ENST00000593562.1_Missense_Mutation_p.R376H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	376					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R376H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCTAGGATGCGCAGGGTGTA	0.662																																					p.R376H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1127A	19						.						79.0	68.0	72.0					19																	42558011		2203	4300	6503	47249851	SO:0001583	missense	2901	exon9				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1127G>A	19.37:g.42558011C>T	ENSP00000262895:p.Arg376His	Somatic		Capture	Illumina HiSeq	Phase_I	47249851	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658932	0.67586	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.20463	2.07;2.07	5.44	5.44	0.79542	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.02916	-0.46	0.39684	D	0.970941	B	0.24675	0.109	B	0.15870	0.014	T	0.17653	-1.0362	10	0.72032	D	0.01	.	18.0289	0.89277	0.0:1.0:0.0:0.0	.	376	Q16478	GRIK5_HUMAN	H	376	ENSP00000262895:R376H;ENSP00000301218:R376H	ENSP00000262895:R376H	R	-	2	0	GRIK5	47249851	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.407000	0.44565	2.546000	0.85860	0.655000	0.94253	CGC		0.662	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
ZNF574	64763	broad.mit.edu	37	19	42583593	42583593	+	Missense_Mutation	SNP	C	C	T	rs376269644		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42583593C>T	ENST00000600245.1	+	2	1490	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R369C|ZNF574_ENST00000359044.4_Missense_Mutation_p.R279C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R279C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTACGAGCTGCGCAATGGTGA	0.647																																					p.R279C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C835T	19						.	C	CYS/ARG	0,4406		0,0,2203	46.0	55.0	52.0		835	5.0	1.0	19		52	2,8596	2.2+/-6.3	0,2,4297	no	missense	ZNF574	NM_022752.5	180	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	279/897	42583593	2,13002	2203	4299	6502	47275433	SO:0001583	missense	64763	exon2			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.835C>T	19.37:g.42583593C>T	ENSP00000469029:p.Arg279Cys	Somatic		Capture	Illumina HiSeq	Phase_I	47275433	NM_022752	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522455	0.64747	0.0	2.33E-4	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06768	3.26;3.27	4.96	4.96	0.65561	.	0.250136	0.27710	N	0.018173	T	0.13200	0.0320	N	0.08118	0	0.40490	D	0.980532	D;D	0.89917	0.999;1.0	P;D	0.72338	0.898;0.977	T	0.35500	-0.9786	10	0.52906	T	0.07	-27.9299	15.7534	0.78005	0.0:1.0:0.0:0.0	.	279;368	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	C	369;279	ENSP00000222339:R369C;ENSP00000351939:R279C	ENSP00000222339:R369C	R	+	1	0	ZNF574	47275433	0.718000	0.27976	1.000000	0.80357	0.875000	0.50365	1.738000	0.38207	2.559000	0.86315	0.655000	0.94253	CGC		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752	
PRR19	284338	broad.mit.edu	37	19	42814208	42814208	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42814208C>T	ENST00000499536.2	+	1	1283	c.472C>T	c.(472-474)Cca>Tca	p.P158S	PRR19_ENST00000341747.3_Missense_Mutation_p.P158S|PRR19_ENST00000598490.1_Missense_Mutation_p.P158S			A6NJB7	PRR19_HUMAN	proline rich 19	158								p.P158S(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCTGAGTTTGCCACAGGCCTT	0.632																																					p.P158S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	19						.						46.0	47.0	47.0					19																	42814208		2203	4300	6503	47506048	SO:0001583	missense	284338	exon2			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.472C>T	19.37:g.42814208C>T	ENSP00000445247:p.Pro158Ser	Somatic		Capture	Illumina HiSeq	Phase_I	47506048	NM_199285	A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572380	0.65765	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.59	4.59	0.56863	.	0.000000	0.43416	D	0.000576	T	0.65365	0.2684	L	0.34521	1.04	0.36221	D	0.85196	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73232	-0.4048	9	0.87932	D	0	0.2388	13.11	0.59268	0.0:1.0:0.0:0.0	.	158;158	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	S	158	.	ENSP00000342709:P158S	P	+	1	0	PRR19	47506048	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.335000	0.52105	2.537000	0.85549	0.655000	0.94253	CCA		0.632	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285	
TMEM145	284339	broad.mit.edu	37	19	42819404	42819404	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42819404C>T	ENST00000301204.3	+	7	611	c.570C>T	c.(568-570)taC>taT	p.Y190Y	TMEM145_ENST00000598766.1_Silent_p.Y214Y	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tctcttGTTACTTTGGATGTG	0.537																																					p.Y190Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C570T	19						.						182.0	158.0	166.0					19																	42819404		2203	4300	6503	47511244	SO:0001819	synonymous_variant	284339	exon7			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.570C>T	19.37:g.42819404C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47511244	NM_173633		Silent	SNP	ENST00000301204.3	37	CCDS12603.1																																																																																				0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633	
MEGF8	1954	broad.mit.edu	37	19	42841015	42841015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:42841015C>T	ENST00000251268.6	+	7	1301	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	MEGF8_ENST00000334370.4_Missense_Mutation_p.T434M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	434					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.T434M(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CATGTGTGGACGACGCTGAAG	0.602																																					p.T434M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1301T	19						.						94.0	85.0	88.0					19																	42841015		2203	4300	6503	47532855	SO:0001583	missense	1954	exon7			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1301C>T	19.37:g.42841015C>T	ENSP00000251268:p.Thr434Met	Somatic		Capture	Illumina HiSeq	Phase_I	47532855	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	17.42	3.384927	0.61956	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.69435	-0.4;-0.4	5.04	5.04	0.67666	.	.	.	.	.	T	0.80544	0.4643	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82564	-0.0394	9	0.87932	D	0	-6.4587	15.9045	0.79412	0.0:1.0:0.0:0.0	.	434	Q7Z7M0-2	.	M	434	ENSP00000334219:T434M;ENSP00000251268:T434M	ENSP00000251268:T434M	T	+	2	0	MEGF8	47532855	0.999000	0.42202	0.961000	0.40146	0.402000	0.30811	3.894000	0.56250	2.623000	0.88846	0.561000	0.74099	ACG		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
CEACAM1	634	broad.mit.edu	37	19	43015753	43015753	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:43015753C>T	ENST00000161559.6	-	7	1538	c.1404G>A	c.(1402-1404)gaG>gaA	p.E468E	CEACAM1_ENST00000358394.3_Silent_p.E403E|CEACAM1_ENST00000351134.3_Silent_p.E194E|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000352591.5_Silent_p.E372E|CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000488639.2_5'UTR|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	468					angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E468E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGGTTTGTGCTCTGTGAGAT	0.498																																					p.E468E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1404A	19						.						250.0	234.0	240.0					19																	43015753		2203	4300	6503	47707593	SO:0001819	synonymous_variant	634	exon7			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1404G>A	19.37:g.43015753C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47707593	NM_001712	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	CCDS12609.1																																																																																				0.498	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712	
PSG3	5671	broad.mit.edu	37	19	43243152	43243152	+	Missense_Mutation	SNP	G	G	T	rs35100282		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:43243152G>T	ENST00000327495.5	-	2	338	c.154C>A	c.(154-156)Ctt>Att	p.L52I	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.L52I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	52	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L52I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACAAGTAGAAGAACGTCCTTC	0.458																																					p.L52I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154A	19						.						222.0	223.0	223.0					19																	43243152		2203	4300	6503	47934992	SO:0001583	missense	5671	exon2				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.154C>A	19.37:g.43243152G>T	ENSP00000332215:p.Leu52Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47934992	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	12.15	1.850492	0.32699	.	.	ENSG00000221826	ENST00000327495	T	0.66638	-0.22	1.39	1.39	0.22231	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80592	0.4652	M	0.87900	2.915	0.09310	N	1	P;B	0.41910	0.764;0.01	D;B	0.63793	0.918;0.154	T	0.66779	-0.5837	9	0.56958	D	0.05	.	6.2321	0.20740	0.0:0.0:1.0:0.0	.	30;52	Q08266;Q16557	.;PSG3_HUMAN	I	52	ENSP00000332215:L52I	ENSP00000332215:L52I	L	-	1	0	PSG3	47934992	0.008000	0.16893	0.032000	0.17829	0.041000	0.13682	0.286000	0.18902	1.078000	0.41014	0.393000	0.25936	CTT		0.458	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
PSG6	5675	broad.mit.edu	37	19	43414925	43414925	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:43414925C>A	ENST00000292125.2	-	3	557	c.513G>T	c.(511-513)gaG>gaT	p.E171D	PSG6_ENST00000402603.4_Missense_Mutation_p.E171D|PSG6_ENST00000187910.2_Missense_Mutation_p.E171D	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	171	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E171D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CATCCGGAGTCTCAGGATCAC	0.527																																					p.E171D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G513T	19						.						206.0	203.0	204.0					19																	43414925		2201	4299	6500	48106765	SO:0001583	missense	5675	exon3				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.513G>T	19.37:g.43414925C>A	ENSP00000292125:p.Glu171Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48106765	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	3.062	-0.193023	0.06259	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.11604	2.76;2.76;2.76	1.64	-1.25	0.09405	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06735	0.0172	N	0.25332	0.735	0.09310	N	1	B;B;B	0.22003	0.063;0.002;0.0	B;B;B	0.26693	0.072;0.015;0.016	T	0.40232	-0.9574	9	0.37606	T	0.19	.	3.4617	0.07535	0.0:0.5568:0.259:0.1842	.	171;171;171	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	D	171	ENSP00000187910:E171D;ENSP00000385736:E171D;ENSP00000292125:E171D	ENSP00000187910:E171D	E	-	3	2	PSG6	48106765	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.619000	0.05572	-0.480000	0.06803	-2.888000	0.00096	GAG		0.527	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
PSG7	5676	broad.mit.edu	37	19	43433623	43433623	+	RNA	SNP	C	C	T	rs200257675		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:43433623C>T	ENST00000406070.2	-	0	776				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.527																																					p.R227H												.	.	0			c.G680A	19						.						221.0	238.0	233.0					19																	43433623		2201	4296	6497	48125463			5676	exon3					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433623C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48125463	NM_002783	Q15232	Missense_Mutation	SNP	ENST00000406070.2	37																																																																																					0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
IRGC	56269	broad.mit.edu	37	19	44223638	44223638	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44223638G>A	ENST00000244314.5	+	2	1127	c.928G>A	c.(928-930)Gac>Aac	p.D310N		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	310						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.D310N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTGGACGACGACTCGCTGGC	0.662																																					p.D310N	Colon(189;350 2037 11447 13433 38914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	19						.						57.0	56.0	56.0					19																	44223638		2203	4299	6502	48915478	SO:0001583	missense	56269	exon2			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.928G>A	19.37:g.44223638G>A	ENSP00000244314:p.Asp310Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48915478	NM_019612	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073433	0.36566	.	.	ENSG00000124449	ENST00000244314	T	0.21543	2.0	4.5	3.44	0.39384	.	0.449718	0.20032	N	0.100684	T	0.19366	0.0465	N	0.19112	0.55	0.18873	N	0.999982	D	0.63046	0.992	P	0.55222	0.771	T	0.05632	-1.0873	10	0.28530	T	0.3	.	7.4094	0.27009	0.2042:0.0:0.7958:0.0	.	310	Q6NXR0	IIGP5_HUMAN	N	310	ENSP00000244314:D310N	ENSP00000244314:D310N	D	+	1	0	IRGC	48915478	0.004000	0.15560	1.000000	0.80357	0.445000	0.32107	0.489000	0.22387	2.041000	0.60428	0.655000	0.94253	GAC		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
ZNF283	284349	broad.mit.edu	37	19	44351258	44351258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44351258G>T	ENST00000324461.7	+	7	802	c.505G>T	c.(505-507)Gga>Tga	p.G169*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.G30*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	169					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)	p.G102*(1)|p.G169*(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GGGACTAAAAGGACATCAAGA	0.368																																					p.G169X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G505T	19						.						41.0	38.0	39.0					19																	44351258		1851	4099	5950	49043098	SO:0001587	stop_gained	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.505G>T	19.37:g.44351258G>T	ENSP00000327314:p.Gly169*	Somatic		Capture	Illumina HiSeq	Phase_I	49043098	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205884	0.39003	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.83	-0.519	0.11939	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.879	0.13670	0.4734:0.0:0.5266:0.0	.	.	.	.	X	169	.	ENSP00000327314:G169X	G	+	1	0	ZNF283	49043098	0.385000	0.25172	0.002000	0.10522	0.037000	0.13140	0.996000	0.29719	0.102000	0.17638	-0.259000	0.10710	GGA		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44352021	44352021	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44352021G>T	ENST00000324461.7	+	7	1565	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R284I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	423					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)	p.R423I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAAAGAATTCATACT	0.388																																					p.R423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268T	19						.						66.0	75.0	72.0					19																	44352021		2198	4294	6492	49043861	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1268G>T	19.37:g.44352021G>T	ENSP00000327314:p.Arg423Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49043861	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756537	0.49362	.	.	ENSG00000167637	ENST00000324461	T	0.24908	1.83	3.05	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.10177	-1.0641	9	0.66056	D	0.02	.	5.8832	0.18866	0.1198:0.1982:0.682:0.0	.	423	Q8N7M2	ZN283_HUMAN	I	423	ENSP00000327314:R423I	ENSP00000327314:R423I	R	+	2	0	ZNF283	49043861	0.000000	0.05858	0.338000	0.25549	0.920000	0.55202	0.165000	0.16564	0.612000	0.30071	0.462000	0.41574	AGA		0.388	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF404	342908	broad.mit.edu	37	19	44377017	44377017	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44377017A>C	ENST00000587539.1	-	3	1348	c.1349T>G	c.(1348-1350)cTt>cGt	p.L450R	ZNF404_ENST00000324394.6_Missense_Mutation_p.L448R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L448R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTGAGAATTAAGTCTAAAGGT	0.378																																					p.L447R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1340G	19						.						39.0	42.0	41.0					19																	44377017		2176	4280	6456	49068857	SO:0001583	missense	342908	exon2			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1349T>G	19.37:g.44377017A>C	ENSP00000466051:p.Leu450Arg	Somatic		Capture	Illumina HiSeq	Phase_I	49068857	NM_001033719	A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	A	0.175	-1.067424	0.01934	.	.	ENSG00000176222	ENST00000324394	T	0.08807	3.05	2.17	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B	0.17465	0.022	B	0.16722	0.016	T	0.47032	-0.9148	9	0.08599	T	0.76	.	1.9664	0.03396	0.5709:0.0:0.1616:0.2674	.	450	Q494X3	ZN404_HUMAN	R	448	ENSP00000319479:L448R	ENSP00000319479:L448R	L	-	2	0	ZNF404	49068857	0.000000	0.05858	0.987000	0.45799	0.806000	0.45545	-3.654000	0.00402	0.984000	0.38629	0.332000	0.21555	CTT		0.378	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	
ZNF221	7638	broad.mit.edu	37	19	44471081	44471081	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44471081G>A	ENST00000251269.5	+	6	1755	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K	ZNF221_ENST00000592350.1_Missense_Mutation_p.R476K|ZNF221_ENST00000587682.1_Missense_Mutation_p.R476K	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R476K(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ACGGGTGAGAGACCCTATAAT	0.458																																					p.R476K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	19						.						76.0	74.0	75.0					19																	44471081		2203	4300	6503	49162921	SO:0001583	missense	7638	exon6			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1427G>A	19.37:g.44471081G>A	ENSP00000251269:p.Arg476Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49162921	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	7.331	0.618945	0.14129	.	.	ENSG00000159905	ENST00000251269	T	0.12361	2.69	2.63	0.248	0.15526	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04655	-0.195	0.21220	N	0.999754	B	0.10296	0.003	B	0.15484	0.013	T	0.43589	-0.9382	9	0.02654	T	1	.	6.3481	0.21361	0.7457:0.0:0.2543:0.0	.	476	Q9UK13	ZN221_HUMAN	K	476	ENSP00000251269:R476K	ENSP00000251269:R476K	R	+	2	0	ZNF221	49162921	0.000000	0.05858	0.002000	0.10522	0.908000	0.53690	-0.005000	0.12855	-0.144000	0.11314	0.313000	0.20887	AGA		0.458	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF230	7773	broad.mit.edu	37	19	44513274	44513274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44513274G>T	ENST00000429154.2	+	4	409	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	ZNF230_ENST00000585632.1_Nonsense_Mutation_p.E61*	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E61*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CCTAAGGGAAGAAAAGTTTTG	0.398																																					p.E61X	GBM(175;914 2069 22996 47111 52600)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G181T	19						.						119.0	112.0	114.0					19																	44513274		2203	4300	6503	49205114	SO:0001587	stop_gained	7773	exon4			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.181G>T	19.37:g.44513274G>T	ENSP00000409318:p.Glu61*	Somatic		Capture	Illumina HiSeq	Phase_I	49205114	NM_006300	O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_Mutation	SNP	ENST00000429154.2	37	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	36	5.882353	0.97062	.	.	ENSG00000159882	ENST00000429154	.	.	.	1.82	0.752	0.18398	.	.	.	.	.	.	.	.	.	.	.	0.51767	D	0.999931	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.2177	0.10542	0.2167:0.0:0.7833:0.0	.	.	.	.	X	61	.	ENSP00000409318:E61X	E	+	1	0	ZNF230	49205114	0.004000	0.15560	0.006000	0.13384	0.956000	0.61745	0.040000	0.13905	0.329000	0.23460	0.537000	0.68136	GAA		0.398	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1		
ZNF222	7673	broad.mit.edu	37	19	44536262	44536262	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44536262T>C	ENST00000187879.8	+	4	597	c.435T>C	c.(433-435)caT>caC	p.H145H	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.H185H	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H145H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AGAAGTCTCATACCTGTGATG	0.408																																					p.H185H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T555C	19						.						147.0	153.0	151.0					19																	44536262		2203	4300	6503	49228102	SO:0001819	synonymous_variant	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.435T>C	19.37:g.44536262T>C		Somatic		Capture	Illumina HiSeq	Phase_I	49228102	NM_001129996	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	CCDS33045.1																																																																																				0.408	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF222	7673	broad.mit.edu	37	19	44536673	44536673	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44536673G>T	ENST00000187879.8	+	4	1008	c.846G>T	c.(844-846)gaG>gaT	p.E282D	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.E322D	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E282D(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ACACAGCAGAGAAACTGTACA	0.378																																					p.E322D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G966T	19						.						142.0	143.0	143.0					19																	44536673		2203	4300	6503	49228513	SO:0001583	missense	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.846G>T	19.37:g.44536673G>T	ENSP00000187879:p.Glu282Asp	Somatic		Capture	Illumina HiSeq	Phase_I	49228513	NM_001129996	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551481	0.45487	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.10005	2.92;2.92	2.79	-2.0	0.07433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11707	0.0285	M	0.70275	2.135	0.23089	N	0.998319	B;P	0.41978	0.381;0.767	B;B	0.36808	0.224;0.233	T	0.12142	-1.0559	9	0.72032	D	0.01	.	8.3699	0.32408	0.2594:0.0:0.7406:0.0	.	322;282	G5E9B9;Q9UK12	.;ZN222_HUMAN	D	322;282;228	ENSP00000375822:E322D;ENSP00000187879:E282D	ENSP00000187879:E282D	E	+	3	2	ZNF222	49228513	0.672000	0.27530	0.166000	0.22797	0.441000	0.31987	0.065000	0.14466	-0.469000	0.06911	0.205000	0.17691	GAG		0.378	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF224	7767	broad.mit.edu	37	19	44612227	44612227	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44612227C>T	ENST00000336976.6	+	6	2168	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	638					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F638F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGAATTCATTCTCTAAAGTGC	0.453																																					p.F638F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1914T	19						.						83.0	79.0	81.0					19																	44612227		2203	4300	6503	49304067	SO:0001819	synonymous_variant	7767	exon6			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1914C>T	19.37:g.44612227C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49304067	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	CCDS33046.1																																																																																				0.453	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF226	7769	broad.mit.edu	37	19	44680647	44680647	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:44680647G>T	ENST00000590089.1	+	7	1599	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.R411I|ZNF226_ENST00000337433.5_Missense_Mutation_p.R411I			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	411					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)	p.R411I(1)					Prostate(69;0.0352)|all_neural(266;0.202)				TCCCATCAAAGAGTTCATACA	0.438																																					p.R411I	Pancreas(115;581 1665 13228 19278 50070)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232T	19						.						62.0	66.0	65.0					19																	44680647		2198	4300	6498	49372487	SO:0001583	missense	7769	exon6			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1232G>T	19.37:g.44680647G>T	ENSP00000465121:p.Arg411Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49372487	NM_001032372	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314294	0.40996	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.24908	1.83;1.83	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285294	0.19742	N	0.107087	T	0.35335	0.0928	M	0.81179	2.53	0.39285	D	0.964638	D	0.61080	0.989	P	0.46237	0.508	T	0.51733	-0.8668	10	0.62326	D	0.03	.	11.9495	0.52946	0.0:0.2459:0.7541:0.0	.	411	Q9NYT6	ZN226_HUMAN	I	411	ENSP00000336719:R411I;ENSP00000393265:R411I	ENSP00000336719:R411I	R	+	2	0	ZNF226	49372487	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.160000	0.10041	2.201000	0.70794	0.655000	0.94253	AGA		0.438	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1		
MARK4	57787	broad.mit.edu	37	19	45766421	45766421	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:45766421G>A	ENST00000262891.4	+	3	634	c.303G>A	c.(301-303)caG>caA	p.Q101Q	MARK4_ENST00000300843.4_Silent_p.Q101Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.Q101Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAGCCTGCAGAAGGTGAGGC	0.642																																					p.Q101Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G303A	19						.						32.0	29.0	30.0					19																	45766421		2203	4297	6500	50458261	SO:0001819	synonymous_variant	57787	exon3			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.303G>A	19.37:g.45766421G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50458261	NM_001199867	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	CCDS56097.1																																																																																				0.642	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
GPR4	2828	broad.mit.edu	37	19	46094572	46094572	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46094572G>A	ENST00000323040.4	-	2	1497	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	185					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R185W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGAACACCCGATAGAGGTTC	0.637																																					p.R185W	Esophageal Squamous(117;181 1612 1673 14956 42937)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C553T	19						.						64.0	56.0	59.0					19																	46094572		2201	4298	6499	50786412	SO:0001583	missense	2828	exon2			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.553C>T	19.37:g.46094572G>A	ENSP00000319744:p.Arg185Trp	Somatic		Capture	Illumina HiSeq	Phase_I	50786412	NM_005282	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793274	0.70452	.	.	ENSG00000177464	ENST00000323040	T	0.72167	-0.63	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.83709	0.5313	M	0.83603	2.65	0.47341	D	0.999398	D	0.89917	1.0	D	0.97110	1.0	D	0.85470	0.1172	10	0.66056	D	0.02	.	11.4015	0.49873	0.0:0.0:0.8193:0.1807	.	185	P46093	GPR4_HUMAN	W	185	ENSP00000319744:R185W	ENSP00000319744:R185W	R	-	1	2	GPR4	50786412	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.115000	0.50391	2.444000	0.82710	0.455000	0.32223	CGG		0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282	
SNRPD2	6633	broad.mit.edu	37	19	46191650	46191650	+	Silent	SNP	G	G	A	rs371957629		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46191650G>A	ENST00000342669.3	-	2	621	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SNRPD2_ENST00000590212.1_Silent_p.F59F|SNRPD2_ENST00000588599.1_Silent_p.F49F|SNRPD2_ENST00000391932.3_Silent_p.F49F|SNRPD2_ENST00000587367.1_Silent_p.F49F|SNRPD2_ENST00000588301.1_Silent_p.F59F|SNRPD2_ENST00000585392.1_5'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	59					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)	p.F59F(1)		breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTCACCTATCGAAGGCCTTCA	0.562																																					p.F59F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	19						.	G	,	1,4405	2.1+/-5.4	0,1,2202	105.0	92.0	96.0		177,147	-5.2	1.0	19		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SNRPD2	NM_004597.5,NM_177542.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	59/119,49/109	46191650	1,13005	2203	4300	6503	50883490	SO:0001819	synonymous_variant	6633	exon2				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.177C>T	19.37:g.46191650G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50883490	NM_004597	A8K797|J3KPM5|P43330	Silent	SNP	ENST00000342669.3	37	CCDS33053.1																																																																																				0.562	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597	
SYMPK	8189	broad.mit.edu	37	19	46330848	46330848	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46330848C>A	ENST00000245934.7	-	16	2345	c.2101G>T	c.(2101-2103)Gac>Tac	p.D701Y	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	701					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D701Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AAGATCAGGTCTCGAAGTGTG	0.587																																					p.D701Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2101T	19						.						121.0	90.0	100.0					19																	46330848		2203	4300	6503	51022688	SO:0001583	missense	8189	exon16			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2101G>T	19.37:g.46330848C>A	ENSP00000245934:p.Asp701Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51022688	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724217	0.68959	.	.	ENSG00000125755	ENST00000245934	T	0.66460	-0.21	5.04	5.04	0.67666	Armadillo-type fold (1);	0.195818	0.46758	D	0.000269	T	0.59905	0.2228	L	0.33137	0.985	0.80722	D	1	P;B	0.50710	0.938;0.024	B;B	0.43508	0.422;0.029	T	0.66767	-0.5840	10	0.87932	D	0	.	15.9919	0.80211	0.0:1.0:0.0:0.0	.	716;701	Q4LE61;Q92797	.;SYMPK_HUMAN	Y	701	ENSP00000245934:D701Y	ENSP00000245934:D701Y	D	-	1	0	SYMPK	51022688	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.130000	0.77235	2.649000	0.89929	0.650000	0.86243	GAC		0.587	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
SYMPK	8189	broad.mit.edu	37	19	46347327	46347327	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46347327A>G	ENST00000245934.7	-	8	1052	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	270					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.F270L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAGACATGAACATGGGTCTC	0.567																																					p.F270L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T808C	19						.						112.0	95.0	101.0					19																	46347327		2203	4300	6503	51039167	SO:0001583	missense	8189	exon8			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.808T>C	19.37:g.46347327A>G	ENSP00000245934:p.Phe270Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51039167	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630373	0.87660	.	.	ENSG00000125755	ENST00000245934	T	0.28895	1.59	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.63843	1.955	0.80722	D	1	D;P	0.56968	0.978;0.898	P;B	0.57911	0.829;0.395	T	0.45891	-0.9230	10	0.54805	T	0.06	.	13.9896	0.64357	1.0:0.0:0.0:0.0	.	285;270	Q4LE61;Q92797	.;SYMPK_HUMAN	L	270	ENSP00000245934:F270L	ENSP00000245934:F270L	F	-	1	0	SYMPK	51039167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.866000	0.75506	2.177000	0.69029	0.455000	0.32223	TTC		0.567	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
SYMPK	8189	broad.mit.edu	37	19	46352090	46352090	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46352090T>C	ENST00000245934.7	-	6	588	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	115	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.N115S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAAGAGCATGTTGAGGTTTGC	0.532																																					p.N115S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	19						.						176.0	144.0	155.0					19																	46352090		2203	4300	6503	51043930	SO:0001583	missense	8189	exon6			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.344A>G	19.37:g.46352090T>C	ENSP00000245934:p.Asn115Ser	Somatic		Capture	Illumina HiSeq	Phase_I	51043930	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691190	0.30052	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.30981	1.51	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.047852	0.85682	D	0.000000	T	0.13841	0.0335	N	0.10916	0.065	0.54753	D	0.999983	B;P	0.35481	0.038;0.504	B;B	0.24541	0.015;0.054	T	0.15607	-1.0431	10	0.12103	T	0.63	.	13.7546	0.62928	0.0:0.0:0.0:1.0	.	130;115	Q4LE61;Q92797	.;SYMPK_HUMAN	S	115;119	ENSP00000245934:N115S	ENSP00000245934:N115S	N	-	2	0	SYMPK	51043930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.579000	0.82511	2.188000	0.69820	0.460000	0.39030	AAC		0.532	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
HIF3A	64344	broad.mit.edu	37	19	46825222	46825222	+	Splice_Site	SNP	C	C	T	rs141145645		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46825222C>T	ENST00000377670.4	+	10	1365	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	HIF3A_ENST00000300862.3_Splice_Site_p.S443L|HIF3A_ENST00000420102.2_Splice_Site_p.S394L|HIF3A_ENST00000244303.6_Splice_Site_p.S376L|HIF3A_ENST00000339613.2_Splice_Site_p.S389L|HIF3A_ENST00000472815.1_Splice_Site_p.S376L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Splice_Site_p.S376L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	445					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S443L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTCCTCTTTCGGTAAGCCAT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16834	0.0		0.0	False		,,,				2504	0.001				p.S445L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1334T	19						.	C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405		0,1,2202	26.0	29.0	28.0		1127,1328,1334,1127	2.9	1.0	19	dbSNP_134	28	0,8598		0,0,4299	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	145,145,145,145	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	376/601,443/668,445/670,376/451	46825222	1,13003	2203	4299	6502	51517062	SO:0001630	splice_region_variant	64344	exon10			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1335+1C>T	19.37:g.46825222C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51517062	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	8.924	0.961716	0.18583	2.27E-4	0.0	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65549	0.58;-0.15;0.46;0.58;-0.16	4.98	2.86	0.33363	.	0.711113	0.12262	N	0.484601	T	0.33990	0.0882	N	0.08118	0	0.22342	N	0.999188	P;B;B;B;B;B;B	0.39131	0.661;0.0;0.004;0.0;0.006;0.002;0.0	B;B;B;B;B;B;B	0.24848	0.056;0.0;0.001;0.0;0.0;0.0;0.0	T	0.11842	-1.0571	10	0.59425	D	0.04	.	7.5741	0.27926	0.0:0.803:0.0:0.197	.	394;376;443;394;389;445;445	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	L	445;445;376;389;389;443;394	ENSP00000366898:S445L;ENSP00000244303:S376L;ENSP00000341877:S389L;ENSP00000300862:S443L;ENSP00000407771:S394L	ENSP00000244302:S445L	S	+	2	0	HIF3A	51517062	0.984000	0.35163	0.998000	0.56505	0.027000	0.11550	0.819000	0.27308	0.632000	0.30432	0.655000	0.94253	TCG		0.627	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		Missense_Mutation
PPP5C	5536	broad.mit.edu	37	19	46890390	46890390	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:46890390C>T	ENST00000012443.4	+	8	1048	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PPP5C_ENST00000391919.1_Silent_p.F187F	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	315	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.F315F(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCTACGGTTTCGAGGGTGAGG	0.562																																					p.F315F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	19						.						150.0	99.0	116.0					19																	46890390		2203	4300	6503	51582230	SO:0001819	synonymous_variant	5536	exon8				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.945C>T	19.37:g.46890390C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51582230	NM_006247	Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	CCDS12684.1																																																																																				0.562	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
ARHGAP35	2909	broad.mit.edu	37	19	47424280	47424280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:47424280G>A	ENST00000404338.3	+	1	2348	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	783					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R783Q(1)									GTTGATCTGCGAATTGTTATG	0.423																																					p.R783Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2348A	19						.						127.0	126.0	127.0					19																	47424280		1995	4175	6170	52116120	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2348G>A	19.37:g.47424280G>A	ENSP00000385720:p.Arg783Gln	Somatic		Capture	Illumina HiSeq	Phase_I	52116120	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085561	0.76642	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.56444	0.46	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	M	0.77820	2.39	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77278	-0.2647	10	0.87932	D	0	-11.272	18.2664	0.90053	0.0:0.0:1.0:0.0	.	783	Q9NRY4-2	.	Q	783	ENSP00000385720:R783Q	ENSP00000324820:R783Q	R	+	2	0	ARHGAP35	52116120	0.998000	0.40836	0.989000	0.46669	0.931000	0.56810	7.898000	0.87363	2.684000	0.91462	0.655000	0.94253	CGA		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
ARHGAP35	2909	broad.mit.edu	37	19	47425365	47425365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:47425365C>T	ENST00000404338.3	+	1	3433	c.3433C>T	c.(3433-3435)Cga>Tga	p.R1145*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1145					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R1145*(4)									CTCTCTAGAGCGAGGGCGCAA	0.562																																					p.R1145X												.	.	4	Substitution - Nonsense(4)	endometrium(2)|ovary(1)|large_intestine(1)	c.C3433T	19						.						52.0	52.0	52.0					19																	47425365		2045	4201	6246	52117205	SO:0001587	stop_gained	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3433C>T	19.37:g.47425365C>T	ENSP00000385720:p.Arg1145*	Somatic		Capture	Illumina HiSeq	Phase_I	52117205	NM_004491	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	42	9.427396	0.99167	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0671	18.7132	0.91666	0.0:1.0:0.0:0.0	.	.	.	.	X	1145	.	ENSP00000324820:R1145X	R	+	1	2	ARHGAP35	52117205	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.925000	0.48884	2.720000	0.93068	0.655000	0.94253	CGA		0.562	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
CCDC9	26093	broad.mit.edu	37	19	47763851	47763851	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:47763851A>G	ENST00000221922.6	+	5	439	c.217A>G	c.(217-219)Aac>Gac	p.N73D		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	73							poly(A) RNA binding (GO:0044822)	p.N73D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAGGAGAAGAACCTGGGTCC	0.697																																					p.N73D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A217G	19						.						40.0	43.0	42.0					19																	47763851		2103	4169	6272	52455691	SO:0001583	missense	26093	exon5			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.217A>G	19.37:g.47763851A>G	ENSP00000221922:p.Asn73Asp	Somatic		Capture	Illumina HiSeq	Phase_I	52455691	NM_015603		Missense_Mutation	SNP	ENST00000221922.6	37	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	a	6.338	0.430381	0.12045	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.22539	1.95	3.38	3.38	0.38709	.	0.465977	0.22176	N	0.063572	T	0.14570	0.0352	L	0.36672	1.1	0.26285	N	0.978215	B	0.25809	0.135	B	0.25405	0.06	T	0.16600	-1.0397	10	0.20519	T	0.43	-4.0854	8.3656	0.32385	1.0:0.0:0.0:0.0	.	73	Q9Y3X0	CCDC9_HUMAN	D	73	ENSP00000221922:N73D	ENSP00000221922:N73D	N	+	1	0	CCDC9	52455691	0.485000	0.25972	0.998000	0.56505	0.227000	0.25037	0.681000	0.25320	1.553000	0.49476	0.398000	0.26397	AAC		0.697	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603	
EHD2	30846	broad.mit.edu	37	19	48244617	48244617	+	Silent	SNP	C	C	T	rs200296704		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48244617C>T	ENST00000263277.3	+	6	1811	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	EHD2_ENST00000538399.1_Silent_p.H384H|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	520	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.H520H(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGAAGGCCACGGGCTGCCCG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		16328	0.001		0.0	False		,,,				2504	0.0				p.H520H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1560T	19						.						22.0	21.0	21.0					19																	48244617		2203	4299	6502	52936429	SO:0001819	synonymous_variant	30846	exon6			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1560C>T	19.37:g.48244617C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52936429	NM_014601	B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	CCDS12704.1																																																																																				0.697	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
TPRX1	284355	broad.mit.edu	37	19	48305239	48305239	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48305239G>T	ENST00000322175.3	-	2	1184	c.1029C>A	c.(1027-1029)ttC>ttA	p.F343L	TPRX1_ENST00000543508.1_Missense_Mutation_p.F333L|TPRX1_ENST00000535759.1_Missense_Mutation_p.F440L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	343						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F343L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TGTCTGGCAAGAAGTCGGAGG	0.612																																					p.F343L	Esophageal Squamous(123;175 2281 3051 32395)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1029A	19						.						76.0	77.0	77.0					19																	48305239		2203	4300	6503	52997051	SO:0001583	missense	284355	exon2				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1029C>A	19.37:g.48305239G>T	ENSP00000323455:p.Phe343Leu	Somatic		Capture	Illumina HiSeq	Phase_I	52997051	NM_198479	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.478099	0.01035	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94457	-2.18;-3.43	1.27	-1.01	0.10169	.	.	.	.	.	T	0.79458	0.4449	N	0.08118	0	0.09310	N	1	P	0.39424	0.673	B	0.32022	0.139	T	0.76345	-0.2993	9	0.02654	T	1	.	3.8891	0.09111	0.4805:0.0:0.5195:0.0	.	343	Q8N7U7	TPRX1_HUMAN	L	343;440;333	ENSP00000323455:F343L;ENSP00000438832:F440L	ENSP00000323455:F343L	F	-	3	2	TPRX1	52997051	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.448000	0.06820	-0.253000	0.09514	0.491000	0.48974	TTC		0.612	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479	
PLA2G4C	8605	broad.mit.edu	37	19	48571056	48571056	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48571056T>C	ENST00000599921.1	-	13	1451	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Y365C|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Y375C|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.Y365C			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	365	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.Y365C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACCGTGTTTGTACAGGAAGTT	0.532																																					p.Y375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1124G	19						.						334.0	328.0	330.0					19																	48571056		2203	4300	6503	53262868	SO:0001583	missense	8605	exon13			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1094A>G	19.37:g.48571056T>C	ENSP00000469473:p.Tyr365Cys	Somatic		Capture	Illumina HiSeq	Phase_I	53262868	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732489	0.48939	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04119	3.7;3.7	2.78	2.78	0.32641	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.362617	0.21589	U	0.072139	T	0.13798	0.0334	M	0.65498	2.005	0.31119	N	0.709071	D;D	0.76494	0.998;0.999	P;D	0.63192	0.879;0.912	T	0.02126	-1.1209	10	0.62326	D	0.03	-5.3623	7.4118	0.27021	0.0:0.0:0.0:1.0	.	375;365	B4DI40;Q9UP65	.;PA24C_HUMAN	C	365	ENSP00000346228:Y365C;ENSP00000400036:Y365C	ENSP00000346228:Y365C	Y	-	2	0	PLA2G4C	53262868	0.981000	0.34729	0.571000	0.28486	0.163000	0.22366	2.985000	0.49362	1.045000	0.40225	0.172000	0.16884	TAC		0.532	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
LIG1	3978	broad.mit.edu	37	19	48660395	48660395	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48660395C>A	ENST00000263274.7	-	5	665	c.246G>T	c.(244-246)aaG>aaT	p.K82N	LIG1_ENST00000536218.1_Missense_Mutation_p.K82N|LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K52N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	82					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K82N(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCAGGGCAGGCTTCTGGAAGA	0.552								Nucleotide excision repair (NER)																													p.K82N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G246T	19						.						95.0	98.0	97.0					19																	48660395		2203	4300	6503	53352207	SO:0001583	missense	3978	exon5				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.246G>T	19.37:g.48660395C>A	ENSP00000263274:p.Lys82Asn	Somatic		Capture	Illumina HiSeq	Phase_I	53352207	NM_000234	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943103	0.18281	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.57273	0.43;0.41;0.42;1.97	4.72	0.949	0.19566	.	0.761422	0.13050	N	0.417788	T	0.52789	0.1756	L	0.60455	1.87	0.38045	D	0.935581	B;P;B	0.51351	0.001;0.944;0.001	B;P;B	0.49853	0.001;0.624;0.001	T	0.53173	-0.8476	10	0.40728	T	0.16	-27.7088	7.71	0.28671	0.0:0.6899:0.0:0.3101	.	52;82;82	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	82;114;52;82;82	ENSP00000263274:K82N;ENSP00000442841:K52N;ENSP00000441531:K82N;ENSP00000445928:K82N	ENSP00000263274:K82N	K	-	3	2	LIG1	53352207	0.988000	0.35896	0.998000	0.56505	0.166000	0.22503	0.020000	0.13466	0.177000	0.19895	-0.150000	0.13652	AAG		0.552	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
ZNF114	163071	broad.mit.edu	37	19	48789389	48789389	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48789389A>G	ENST00000595607.1	+	6	1002	c.508A>G	c.(508-510)Aca>Gca	p.T170A	ZNF114_ENST00000597695.1_Missense_Mutation_p.T136A|ZNF114_ENST00000600687.1_Missense_Mutation_p.T170A|ZNF114_ENST00000315849.1_Missense_Mutation_p.T170A			Q8NC26	ZN114_HUMAN	zinc finger protein 114	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T170A(1)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TAGTCAAAAAACACATGAAAA	0.433																																					p.T170A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A508G	19						.						73.0	68.0	70.0					19																	48789389		2203	4300	6503	53481201	SO:0001583	missense	163071	exon5			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.508A>G	19.37:g.48789389A>G	ENSP00000469998:p.Thr170Ala	Somatic		Capture	Illumina HiSeq	Phase_I	53481201	NM_153608	A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	A	2.277	-0.365561	0.05069	.	.	ENSG00000178150	ENST00000315849	T	0.04706	3.57	2.0	-1.81	0.07882	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.29627	0.252	B	0.25884	0.064	T	0.45629	-0.9248	9	0.18276	T	0.48	.	0.7411	0.00974	0.4735:0.1981:0.1346:0.1938	.	170	Q8NC26	ZN114_HUMAN	A	170	ENSP00000318898:T170A	ENSP00000318898:T170A	T	+	1	0	ZNF114	53481201	0.001000	0.12720	0.000000	0.03702	0.049000	0.14656	0.207000	0.17395	-0.588000	0.05882	0.338000	0.21704	ACA		0.433	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608	
KDELR1	10945	broad.mit.edu	37	19	48887616	48887616	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48887616G>A	ENST00000330720.2	-	4	669	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	KDELR1_ENST00000597017.1_Missense_Mutation_p.R97C	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	159					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)	p.R159C(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TAGAGCGTGCGGTAAACGCCT	0.577																																					p.R159C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475T	19						.						87.0	73.0	78.0					19																	48887616		2203	4300	6503	53579428	SO:0001583	missense	10945	exon4			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.475C>T	19.37:g.48887616G>A	ENSP00000329471:p.Arg159Cys	Somatic		Capture	Illumina HiSeq	Phase_I	53579428	NM_006801	B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468544	0.63625	.	.	ENSG00000105438	ENST00000330720	T	0.64991	-0.13	4.56	2.29	0.28610	.	0.000000	0.64402	D	0.000011	D	0.85031	0.5604	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86904	0.2056	10	0.87932	D	0	.	8.869	0.35305	0.0857:0.0:0.7655:0.1488	.	159	P24390	ERD21_HUMAN	C	159	ENSP00000329471:R159C	ENSP00000329471:R159C	R	-	1	0	KDELR1	53579428	1.000000	0.71417	0.996000	0.52242	0.551000	0.35334	5.125000	0.64715	1.290000	0.44636	0.655000	0.94253	CGC		0.577	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
GRIN2D	2906	broad.mit.edu	37	19	48945414	48945414	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:48945414C>T	ENST00000263269.3	+	12	2536	c.2448C>T	c.(2446-2448)atC>atT	p.I816I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	816					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.I816I(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGATGAGATCGAGATGCTGG	0.557																																					p.I816I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2448T	19						.						106.0	105.0	105.0					19																	48945414		2203	4300	6503	53637226	SO:0001819	synonymous_variant	2906	exon12			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2448C>T	19.37:g.48945414C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53637226	NM_000836		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																				0.557	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
CA11	770	broad.mit.edu	37	19	49142848	49142848	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49142848G>A	ENST00000084798.4	-	6	1277	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	200						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.R200C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TTAAGGAGGCGACTGAGGAAT	0.592																																					p.R200C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C598T	19						.						178.0	148.0	158.0					19																	49142848		2203	4300	6503	53834660	SO:0001583	missense	770	exon6			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.598C>T	19.37:g.49142848G>A	ENSP00000084798:p.Arg200Cys	Somatic		Capture	Illumina HiSeq	Phase_I	53834660	NM_001217	O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613033	0.66672	.	.	ENSG00000063180	ENST00000084798	T	0.72167	-0.63	3.34	3.34	0.38264	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.140764	0.48767	D	0.000167	T	0.73705	0.3621	M	0.86097	2.795	0.53688	D	0.999977	P	0.41131	0.739	B	0.42555	0.391	T	0.78669	-0.2114	10	0.66056	D	0.02	.	10.3541	0.43954	0.0:0.0:1.0:0.0	.	200	O75493	CAH11_HUMAN	C	200	ENSP00000084798:R200C	ENSP00000084798:R200C	R	-	1	0	CA11	53834660	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.264000	0.51553	1.866000	0.54105	0.455000	0.32223	CGC		0.592	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217	
FUT1	2523	broad.mit.edu	37	19	49253974	49253974	+	Missense_Mutation	SNP	C	C	T	rs182456777		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49253974C>T	ENST00000310160.3	-	4	1539	c.565G>A	c.(565-567)Gac>Aac	p.D189N	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	189					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.D189N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CGAAGGTGGTCGTGCAGGGTG	0.637																																					p.D189N												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G565A	19						.						121.0	125.0	124.0					19																	49253974		2200	4292	6492	53945786	SO:0001583	missense	2523	exon4				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.565G>A	19.37:g.49253974C>T	ENSP00000312021:p.Asp189Asn	Somatic		Capture	Illumina HiSeq	Phase_I	53945786	NM_000148	O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307163	0.23821	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.98996	-5.31	4.54	0.938	0.19500	.	1.037540	0.07633	N	0.928965	D	0.96962	0.9008	L	0.56199	1.76	0.09310	N	1	B	0.31879	0.344	B	0.24848	0.056	D	0.93902	0.7189	10	0.49607	T	0.09	-18.2586	6.3591	0.21419	0.0:0.6601:0.1543:0.1855	.	189	P19526	FUT1_HUMAN	N	189;179	ENSP00000312021:D189N	ENSP00000312021:D189N	D	-	1	0	FUT1	53945786	0.000000	0.05858	0.007000	0.13788	0.367000	0.29736	-0.035000	0.12205	0.636000	0.30508	0.563000	0.77884	GAC		0.637	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148	
HRC	3270	broad.mit.edu	37	19	49657709	49657709	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49657709G>T	ENST00000252825.4	-	1	972	c.786C>A	c.(784-786)gtC>gtA	p.V262V	HRC_ENST00000595625.1_Silent_p.V262V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	262	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.V262V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ATTCAATGGAGAcatcatcat	0.498																																					p.V262V	Melanoma(37;75 1097 24567 25669 30645)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786A	19						.						157.0	116.0	130.0					19																	49657709		2203	4300	6503	54349521	SO:0001819	synonymous_variant	3270	exon1				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.786C>A	19.37:g.49657709G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54349521	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.498	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
SLC6A16	28968	broad.mit.edu	37	19	49794006	49794006	+	Silent	SNP	C	C	T	rs375922500		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49794006C>T	ENST00000335875.4	-	11	2038	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	SLC6A16_ENST00000454748.3_Silent_p.T599T	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	599					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T599T(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCAACAGGATCGTCAGGTCTG	0.567																																					p.T599T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1797A	19						.	C		1,3911		0,1,1955	39.0	42.0	41.0		1797	-9.6	0.0	19		41	3,8299		0,3,4148	no	coding-synonymous	SLC6A16	NM_014037.2		0,4,6103	TT,TC,CC		0.0361,0.0256,0.0327		599/737	49794006	4,12210	1956	4151	6107	54485818	SO:0001819	synonymous_variant	28968	exon11			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1797G>A	19.37:g.49794006C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54485818	NM_014037	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																				0.567	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
CD37	951	broad.mit.edu	37	19	49838988	49838988	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49838988C>A	ENST00000323906.4	+	2	228	c.87C>A	c.(85-87)atC>atA	p.I29I	CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Silent_p.I29I|CD37_ENST00000596426.1_3'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	29					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I29I(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCAGCCTGATCTTCTGCTTCG	0.662																																					p.I29I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C87A	19						.						225.0	226.0	226.0					19																	49838988		2203	4300	6503	54530800	SO:0001819	synonymous_variant	951	exon2				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.87C>A	19.37:g.49838988C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54530800	NM_001774	B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	CCDS12760.1																																																																																				0.662	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1		
TEAD2	8463	broad.mit.edu	37	19	49844591	49844591	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49844591A>G	ENST00000311227.2	-	12	1424	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	TEAD2_ENST00000539846.1_Missense_Mutation_p.V317A|TEAD2_ENST00000377214.4_Missense_Mutation_p.V448A|TEAD2_ENST00000593945.1_Missense_Mutation_p.V449A|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000598810.1_Missense_Mutation_p.V449A|TEAD2_ENST00000601519.1_Missense_Mutation_p.V448A	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	445	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V445A(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCAGTCCCTGACCAGGCGGTA	0.602																																					p.V445A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1334C	19						.						89.0	79.0	82.0					19																	49844591		2203	4300	6503	54536403	SO:0001583	missense	8463	exon12			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1334T>C	19.37:g.49844591A>G	ENSP00000310701:p.Val445Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54536403	NM_003598	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817467	0.90790	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.61980	0.06;0.09;0.07	4.27	4.27	0.50696	.	0.113520	0.37136	N	0.002233	T	0.72471	0.3464	M	0.86028	2.79	0.52099	D	0.99994	B;P;P	0.39782	0.206;0.688;0.48	B;P;B	0.47402	0.091;0.546;0.15	T	0.77885	-0.2421	10	0.87932	D	0	-27.9606	11.9892	0.53166	1.0:0.0:0.0:0.0	.	317;445;448	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	A	445;448;317	ENSP00000310701:V445A;ENSP00000366419:V448A;ENSP00000437928:V317A	ENSP00000310701:V445A	V	-	2	0	TEAD2	54536403	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.282000	0.78630	1.874000	0.54306	0.528000	0.53228	GTC		0.602	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
TEAD2	8463	broad.mit.edu	37	19	49850450	49850450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:49850450G>T	ENST00000311227.2	-	9	996	c.906C>A	c.(904-906)ttC>ttA	p.F302L	TEAD2_ENST00000539846.1_Missense_Mutation_p.F174L|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000377214.4_Missense_Mutation_p.F305L|TEAD2_ENST00000593945.1_Missense_Mutation_p.F306L|TEAD2_ENST00000598810.1_Missense_Mutation_p.F306L|TEAD2_ENST00000601519.1_Missense_Mutation_p.F305L	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	302	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F302L(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		AACTCACCCAGAACTTGACCA	0.552																																					p.F302L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C906A	19						.						117.0	128.0	124.0					19																	49850450		2203	4300	6503	54542262	SO:0001583	missense	8463	exon9			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.906C>A	19.37:g.49850450G>T	ENSP00000310701:p.Phe302Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54542262	NM_003598	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175721	0.78564	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.27256	1.68;1.68;1.68	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000003	T	0.50000	0.1590	M	0.69523	2.12	0.49798	D	0.99982	D;D;B	0.89917	0.999;1.0;0.013	D;D;B	0.97110	0.994;1.0;0.014	T	0.52026	-0.8630	10	0.56958	D	0.05	-20.4228	15.3874	0.74711	0.0:0.0:1.0:0.0	.	174;302;305	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	302;305;174	ENSP00000310701:F302L;ENSP00000366419:F305L;ENSP00000437928:F174L	ENSP00000310701:F302L	F	-	3	2	TEAD2	54542262	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.719000	0.61937	2.427000	0.82271	0.655000	0.94253	TTC		0.552	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
TSKS	60385	broad.mit.edu	37	19	50247577	50247577	+	Silent	SNP	G	G	A	rs149069102		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50247577G>A	ENST00000246801.3	-	8	1354	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TSKS_ENST00000358830.3_Silent_p.F224F	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	424					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.F424fs*11(2)|p.F424F(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ATTGCCGCCCGAACTCCTCCA	0.602																																					p.F424F												.	.	4	Deletion - Frameshift(2)|Substitution - coding silent(2)	large_intestine(2)|breast(2)	c.C1272T	19						.	G		0,4406		0,0,2203	78.0	70.0	73.0		1272	-1.3	1.0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSKS	NM_021733.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		424/593	50247577	1,13005	2203	4300	6503	54939389	SO:0001819	synonymous_variant	60385	exon8			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1272C>T	19.37:g.50247577G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54939389	NM_021733	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																				0.602	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
TSKS	60385	broad.mit.edu	37	19	50266345	50266345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50266345A>G	ENST00000246801.3	-	1	242	c.160T>C	c.(160-162)Tcg>Ccg	p.S54P	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	54					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S54P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCGTGGAACGACACGGCCTTC	0.622																																					p.S54P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T160C	19						.						108.0	100.0	103.0					19																	50266345		2203	4300	6503	54958157	SO:0001583	missense	60385	exon1			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.160T>C	19.37:g.50266345A>G	ENSP00000246801:p.Ser54Pro	Somatic		Capture	Illumina HiSeq	Phase_I	54958157	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061972	0.55432	.	.	ENSG00000126467	ENST00000246801	T	0.36520	1.25	4.41	4.41	0.53225	.	0.454903	0.16505	N	0.211477	T	0.44329	0.1288	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.39143	-0.9628	10	0.59425	D	0.04	-10.3787	11.2619	0.49089	1.0:0.0:0.0:0.0	.	54	Q9UJT2	TSKS_HUMAN	P	54	ENSP00000246801:S54P	ENSP00000246801:S54P	S	-	1	0	TSKS	54958157	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.270000	0.51600	1.864000	0.54056	0.383000	0.25322	TCG		0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
SIGLEC11	114132	broad.mit.edu	37	19	50455578	50455578	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50455578G>A	ENST00000447370.2	-	9	1815	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	SIGLEC11_ENST00000426971.2_Silent_p.F479F|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	575					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.F563F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGCAGGAACAGAAAGCGAGCA	0.632																																					p.F479F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1437T	19						.						81.0	81.0	81.0					19																	50455578		2203	4300	6503	55147390	SO:0001819	synonymous_variant	114132	exon8			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1725C>T	19.37:g.50455578G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55147390	NM_001135163		Silent	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	4.390	0.071954	0.08436	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.32	2.26	0.28386	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.47905	D	0.99954	.	.	.	.	.	.	T	0.47711	-0.9096	4	.	.	.	.	6.956	0.24572	0.1408:0.0:0.8592:0.0	.	.	.	.	F	469	.	.	S	-	2	0	SIGLEC11	55147390	0.140000	0.22579	0.141000	0.22245	0.007000	0.05969	0.130000	0.15850	0.673000	0.31224	0.462000	0.41574	TCT		0.632	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SIGLEC11	114132	broad.mit.edu	37	19	50462304	50462304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50462304G>A	ENST00000447370.2	-	6	1178	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S363F|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S351F(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTTTGCTTGGGAAACCATCAC	0.582																																					p.S363F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1088T	19						.						76.0	78.0	77.0					19																	50462304		2203	4297	6500	55154116	SO:0001583	missense	114132	exon6			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1088C>T	19.37:g.50462304G>A	ENSP00000412361:p.Ser363Phe	Somatic		Capture	Illumina HiSeq	Phase_I	55154116	NM_001135163		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664451|2.664451	0.47572|0.47572	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.56941	.|0.43	2.33|2.33	-0.443|-0.443	0.12249|0.12249	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.942626	.|0.08751	.|N	.|0.899091	T|T	0.45458|0.45458	0.1343|0.1343	N|N	0.17800|0.17800	0.525|0.525	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.996;0.986	.|D;D	.|0.69654	.|0.965;0.923	T|T	0.42849|0.42849	-0.9427|-0.9427	5|10	.|0.09084	.|T	.|0.74	.|.	2.366|2.366	0.04319|0.04319	0.188:0.0:0.5184:0.2936|0.188:0.0:0.5184:0.2936	.|.	.|363;363	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	S|F	353|363	.|ENSP00000412361:S363F	.|ENSP00000412361:S363F	P|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55154116|55154116	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.863000|0.863000	0.49368|0.49368	-0.512000|-0.512000	0.06313|0.06313	0.268000|0.268000	0.21939|0.21939	-0.265000|-0.265000	0.10407|0.10407	CCC|TCC		0.582	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SAFB2	9667	broad.mit.edu	37	19	5604658	5604658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:5604658C>T	ENST00000252542.4	-	11	1759	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	499	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E499K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTCTTCACTTCGCACTCTTTT	0.398																																					p.E499K	Ovarian(127;888 1728 23957 44128 52668)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1495A	19						.						97.0	90.0	92.0					19																	5604658		2203	4300	6503	5555658	SO:0001583	missense	9667	exon11			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1495G>A	19.37:g.5604658C>T	ENSP00000252542:p.Glu499Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5555658	NM_014649	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012765	0.54468	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.22134	1.97	4.81	4.81	0.61882	.	0.208186	0.33161	N	0.005208	T	0.13670	0.0331	L	0.34521	1.04	0.44214	D	0.997049	P	0.37688	0.605	B	0.27076	0.076	T	0.07046	-1.0793	10	0.07325	T	0.83	-13.9416	18.073	0.89417	0.0:1.0:0.0:0.0	.	499	Q14151	SAFB2_HUMAN	K	395;250;499;499	ENSP00000252542:E499K	ENSP00000252542:E499K	E	-	1	0	SAFB2	5555658	0.998000	0.40836	0.760000	0.31359	0.900000	0.52787	5.494000	0.66905	2.505000	0.84491	0.555000	0.69702	GAA		0.398	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
MYH14	79784	broad.mit.edu	37	19	50753000	50753000	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50753000T>C	ENST00000596571.1	+	12	1552	c.1552T>C	c.(1552-1554)Tac>Cac	p.Y518H	MYH14_ENST00000262269.8_Missense_Mutation_p.Y526H|MYH14_ENST00000376970.2_Missense_Mutation_p.Y518H|MYH14_ENST00000425460.1_Missense_Mutation_p.Y526H|MYH14_ENST00000440075.2_Missense_Mutation_p.Y526H|MYH14_ENST00000598205.1_Missense_Mutation_p.Y526H|MYH14_ENST00000601313.1_Missense_Mutation_p.Y526H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	518	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Y518H(1)|p.Y526H(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAGGAGGAGTACCAGCGTGA	0.622																																					p.Y526H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1576C	19						.						184.0	153.0	164.0					19																	50753000		2203	4300	6503	55444812	SO:0001583	missense	79784	exon14			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1552T>C	19.37:g.50753000T>C	ENSP00000472819:p.Tyr518His	Somatic		Capture	Illumina HiSeq	Phase_I	55444812	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283275	0.80803	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.37	4.37	0.52481	Myosin head, motor domain (2);	.	.	.	.	D	0.93504	0.7927	H	0.99916	4.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.95180	0.8298	9	0.87932	D	0	.	11.841	0.52355	0.0:0.0:0.0:1.0	.	526;518;526	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	518;526;518;526;518;526	ENSP00000406273:Y526H;ENSP00000366169:Y518H;ENSP00000407879:Y526H;ENSP00000262269:Y526H	ENSP00000262269:Y526H	Y	+	1	0	MYH14	55444812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	1.965000	0.57142	0.533000	0.62120	TAC		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
MYBPC2	4606	broad.mit.edu	37	19	50946771	50946771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:50946771G>A	ENST00000357701.5	+	10	974	c.923G>A	c.(922-924)gGt>gAt	p.G308D		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	308	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.G308D(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGAACGTTGGTAAGAAGCGA	0.502																																					p.G308D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	19						.						66.0	65.0	65.0					19																	50946771		2096	4229	6325	55638583	SO:0001583	missense	4606	exon10				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.923G>A	19.37:g.50946771G>A	ENSP00000350332:p.Gly308Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55638583	NM_004533	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	18.23	3.578180	0.65878	.	.	ENSG00000086967	ENST00000357701	T	0.46451	0.87	3.91	3.91	0.45181	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.35708	U	0.003024	T	0.66954	0.2842	M	0.85945	2.785	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.71303	-0.4633	10	0.41790	T	0.15	.	15.5505	0.76148	0.0:0.0:1.0:0.0	.	308	Q14324	MYPC2_HUMAN	D	308	ENSP00000350332:G308D	ENSP00000350332:G308D	G	+	2	0	MYBPC2	55638583	1.000000	0.71417	0.994000	0.49952	0.432000	0.31715	8.969000	0.93411	2.128000	0.65567	0.205000	0.17691	GGT		0.502	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
LRRC4B	94030	broad.mit.edu	37	19	51022361	51022361	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51022361G>A	ENST00000599957.1	-	3	806	c.609C>T	c.(607-609)ttC>ttT	p.F203F	LRRC4B_ENST00000389201.3_Silent_p.F203F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	203					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F203F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGCCCCTCGAAGGCCGCCT	0.657																																					p.F203F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	19						.						35.0	42.0	40.0					19																	51022361		2173	4272	6445	55714173	SO:0001819	synonymous_variant	94030	exon3			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.609C>T	19.37:g.51022361G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55714173	NM_001080457	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																				0.657	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
KLK1	3816	broad.mit.edu	37	19	51322459	51322459	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51322459C>A	ENST00000301420.2	-	5	815	c.780G>T	c.(778-780)gaG>gaT	p.E260D	KLK1_ENST00000448701.2_Missense_Mutation_p.E158D|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	260						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.E260D(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	TTCAGGAGTTCTCCGCTATGG	0.532																																					p.E260D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G780T	19						.						136.0	118.0	124.0					19																	51322459		2203	4300	6503	56014271	SO:0001583	missense	3816	exon5			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.780G>T	19.37:g.51322459C>A	ENSP00000301420:p.Glu260Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56014271	NM_002257	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	c	5.576	0.291058	0.10567	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;T	0.89196	-2.48;0.23	3.66	0.0879	0.14452	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.76126	0.3944	N	0.17631	0.505	0.20074	N	0.999936	B	0.02656	0.0	B	0.01281	0.0	T	0.61252	-0.7100	9	0.38643	T	0.18	.	1.9965	0.03458	0.1186:0.1947:0.4793:0.2073	.	260	P06870	KLK1_HUMAN	D	260;158	ENSP00000301420:E260D;ENSP00000400994:E158D	ENSP00000301420:E260D	E	-	3	2	KLK1	56014271	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.304000	0.02741	0.124000	0.18369	-0.270000	0.10280	GAG		0.532	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257	
KLK1	3816	broad.mit.edu	37	19	51323229	51323229	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51323229T>G	ENST00000301420.2	-	4	594	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	KLK1_ENST00000448701.2_Missense_Mutation_p.K85Q|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	187	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.K187Q(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	ACGTGGGCTTTTTTGCACTCA	0.552																																					p.K187Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A559C	19						.						110.0	86.0	94.0					19																	51323229		2203	4300	6503	56015041	SO:0001583	missense	3816	exon4			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.559A>C	19.37:g.51323229T>G	ENSP00000301420:p.Lys187Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56015041	NM_002257	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	t	4.210	0.037839	0.08148	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88431	-2.38;-2.38	2.83	-0.77	0.11005	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.76278	0.3965	N	0.12961	0.28	0.09310	N	1	B	0.21520	0.057	B	0.21708	0.036	T	0.61307	-0.7089	9	0.33141	T	0.24	.	5.9921	0.19472	0.0:0.4132:0.0:0.5868	.	187	P06870	KLK1_HUMAN	Q	187;85	ENSP00000301420:K187Q;ENSP00000400994:K85Q	ENSP00000301420:K187Q	K	-	1	0	KLK1	56015041	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.011000	0.13264	-0.256000	0.09473	0.255000	0.18592	AAA		0.552	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257	
KLK1	3816	broad.mit.edu	37	19	51325114	51325114	+	Silent	SNP	C	C	T	rs372105936		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51325114C>T	ENST00000301420.2	-	2	95	c.60G>A	c.(58-60)ccG>ccA	p.P20P	KLK1_ENST00000448701.2_5'UTR|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	20						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P20P(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGGACTGAATCGGGGGCGCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18060	0.0		0.0	False		,,,				2504	0.001				p.P20P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G60A	19						.	C		1,4405		0,1,2202	31.0	30.0	31.0		60	-8.8	0.0	19		31	0,8600		0,0,4300	no	coding-synonymous	KLK1	NM_002257.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		20/263	51325114	1,13005	2203	4300	6503	56016926	SO:0001819	synonymous_variant	3816	exon2			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.60G>A	19.37:g.51325114C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56016926	NM_002257	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	ENST00000301420.2	37	CCDS12804.1																																																																																				0.647	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257	
KLK3	354	broad.mit.edu	37	19	51359599	51359599	+	Silent	SNP	C	C	T	rs144294681	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51359599C>T	ENST00000326003.2	+	2	191	c.150C>T	c.(148-150)tgC>tgT	p.C50C	KLK3_ENST00000597483.1_Silent_p.C50C|KLK3_ENST00000595952.1_Silent_p.C50C|KLK3_ENST00000593997.1_Silent_p.C50C|KLK3_ENST00000360617.3_Silent_p.C50C	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C50C(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGGCAGTCTGCGGCGGTGTTC	0.642													C|||	5	0.000998403	0.003	0.0014	5008	,	,		14870	0.0		0.0	False		,,,				2504	0.0				p.C50C	Colon(185;1767 2023 13025 30120 37630)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150T	19						.	C	,,,	9,4397	15.5+/-35.6	0,9,2194	95.0	92.0	93.0		150,150,150,150	-5.1	0.0	19	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLK3	NM_001030047.1,NM_001030048.1,NM_001030050.1,NM_001648.2	,,,	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	,,,	50/239,50/219,50/70,50/262	51359599	9,12997	2203	4300	6503	56051411	SO:0001819	synonymous_variant	354	exon2			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.150C>T	19.37:g.51359599C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56051411	NM_001030048	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	CCDS12807.1																																																																																				0.642	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864	
KLK4	9622	broad.mit.edu	37	19	51412667	51412667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51412667G>T	ENST00000324041.1	-	2	64	c.65C>A	c.(64-66)tCg>tAg	p.S22*	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	22			S -> A (in dbSNP:rs1654551). {ECO:0000269|PubMed:15235027}.		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S22Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGAGACGAGCGATCCTGAGGG	0.637																																					p.S22X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65A	19						.						87.0	97.0	93.0					19																	51412667		2203	4300	6503	56104479	SO:0001587	stop_gained	9622	exon2			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.65C>A	19.37:g.51412667G>T	ENSP00000326159:p.Ser22*	Somatic		Capture	Illumina HiSeq	Phase_I	56104479	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Nonsense_Mutation	SNP	ENST00000324041.1	37	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	17.69	3.452492	0.63290	.	.	ENSG00000167749	ENST00000324041	.	.	.	3.8	-0.122	0.13531	.	1.425490	0.05046	N	0.477318	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	6.4473	0.21883	0.0:0.3873:0.4144:0.1982	.	.	.	.	X	22	.	ENSP00000326159:S22X	S	-	2	0	KLK4	56104479	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.611000	0.05622	0.340000	0.23745	0.561000	0.74099	TCG		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	
SIGLEC9	27180	broad.mit.edu	37	19	51629348	51629348	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51629348G>A	ENST00000250360.3	+	3	778	c.711G>A	c.(709-711)caG>caA	p.Q237Q	SIGLEC9_ENST00000440804.3_Silent_p.Q237Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	237	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.Q237Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCGCCTCAGAACTTGACCA	0.622																																					p.Q237Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	19						.						100.0	89.0	93.0					19																	51629348		2203	4300	6503	56321160	SO:0001819	synonymous_variant	27180	exon3			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.711G>A	19.37:g.51629348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56321160	NM_001198558	Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	CCDS12825.1																																																																																				0.622	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
SIGLEC7	27036	broad.mit.edu	37	19	51645932	51645932	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51645932G>T	ENST00000317643.6	+	1	375	c.306G>T	c.(304-306)caG>caT	p.Q102H	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.Q102H|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.Q102H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	102	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Q102H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGACCCACAGACCAAAAATT	0.478																																					p.Q102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G306T	19						.						112.0	109.0	110.0					19																	51645932		2203	4300	6503	56337744	SO:0001583	missense	27036	exon1			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.306G>T	19.37:g.51645932G>T	ENSP00000323328:p.Gln102His	Somatic		Capture	Illumina HiSeq	Phase_I	56337744	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	4.332	0.060941	0.08339	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.65916	-0.18;-0.18;-0.18	2.71	1.59	0.23543	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.089410	0.01201	N	0.007569	T	0.56529	0.1991	L	0.41124	1.26	0.09310	N	1	B;P;B	0.49635	0.018;0.926;0.005	B;B;B	0.44085	0.015;0.44;0.011	T	0.45249	-0.9274	10	0.35671	T	0.21	.	6.0518	0.19789	0.1574:0.0:0.8426:0.0	.	102;102;102	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	H	102	ENSP00000323328:Q102H;ENSP00000306757:Q102H;ENSP00000437609:Q102H	ENSP00000306757:Q102H	Q	+	3	2	SIGLEC7	56337744	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.963000	0.29293	0.466000	0.27193	0.523000	0.50628	CAG		0.478	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
ETFB	2109	broad.mit.edu	37	19	51856511	51856511	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51856511C>A	ENST00000309244.4	-	3	341	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.D175Y|CTD-2616J11.11_ENST00000600067.1_3'UTR	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	84					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)	p.D175Y(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ATACCTCGGTCTGCACCCATG	0.637																																					p.D175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523T	19						.						98.0	87.0	91.0					19																	51856511		2203	4300	6503	56548323	SO:0001583	missense	2109	exon2			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.250G>T	19.37:g.51856511C>A	ENSP00000311930:p.Asp84Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56548323	NM_001014763	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.173930	0.78452	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.88975	-2.45;-2.45	5.18	5.18	0.71444	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97578	1.0109	10	0.87932	D	0	.	16.208	0.82141	0.0:1.0:0.0:0.0	.	84;175	P38117;P38117-2	ETFB_HUMAN;.	Y	84;175	ENSP00000311930:D84Y;ENSP00000346173:D175Y	ENSP00000311930:D84Y	D	-	1	0	ETFB	56548323	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.681000	0.74523	2.444000	0.82710	0.550000	0.68814	GAC		0.637	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1		
SIGLEC10	89790	broad.mit.edu	37	19	51917031	51917031	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51917031G>A	ENST00000339313.5	-	10	1872	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P433S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P443S|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.P401S|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.P491S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P528S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.P343S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P408S|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P586S|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	586					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P586S(1)|p.P528S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGAACCTGGGCCTCGGGGTT	0.562																																					p.P433S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1297T	19						.						135.0	128.0	130.0					19																	51917031		2203	4300	6503	56608843	SO:0001583	missense	89790	exon9			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1756C>T	19.37:g.51917031G>A	ENSP00000345243:p.Pro586Ser	Somatic		Capture	Illumina HiSeq	Phase_I	56608843	NM_001171159	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	4.570	0.105919	0.08780	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.52983	0.91;2.13;1.57;0.8;1.96;1.81;0.64;1.89;0.8	4.91	-8.18	0.01053	.	16.211400	0.00166	N	0.000000	T	0.24774	0.0601	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B;B;B;B	0.27656	0.004;0.028;0.002;0.184;0.004;0.012;0.008;0.001	B;B;B;B;B;B;B;B	0.18871	0.007;0.015;0.007;0.017;0.015;0.023;0.004;0.004	T	0.15178	-1.0446	10	0.14656	T	0.56	.	0.3456	0.00341	0.2671:0.2295:0.2748:0.2286	.	443;401;491;343;491;433;528;586	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	S	491;408;343;586;433;401;528;443;586	ENSP00000342389:P491S;ENSP00000396742:P408S;ENSP00000395475:P343S;ENSP00000348646:P586S;ENSP00000408387:P433S;ENSP00000431444:P401S;ENSP00000389132:P528S;ENSP00000414324:P443S;ENSP00000345243:P586S	ENSP00000345243:P586S	P	-	1	0	SIGLEC10	56608843	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.566000	0.05922	-0.871000	0.04042	0.561000	0.74099	CCC		0.562	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
CEACAM18	729767	broad.mit.edu	37	19	51983643	51983643	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:51983643A>C	ENST00000396477.4	+	2	130	c.109A>C	c.(109-111)Acc>Ccc	p.T37P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.T98P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	37								p.T37P(1)|p.T98P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CATCACCCAAACCCTGGGGAT	0.532																																					p.T98P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A292C	19						.						45.0	42.0	43.0					19																	51983643		1934	4114	6048	56675455	SO:0001583	missense	729767	exon3					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.109A>C	19.37:g.51983643A>C	ENSP00000379738:p.Thr37Pro	Somatic		Capture	Illumina HiSeq	Phase_I	56675455	NM_001080405	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		.	.	.	.	.	.	.	.	.	.	.	1.313	-0.601613	0.03744	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.04862	3.54	2.51	-5.01	0.02991	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42899	-0.9424	9	0.18276	T	0.48	-0.9638	0.4268	0.00465	0.1966:0.2914:0.2231:0.2889	.	98	A8MTB9	CEA18_HUMAN	P	98;37;37	ENSP00000402203:T98P	ENSP00000379738:T37P	T	+	1	0	CEACAM18	56675455	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.236000	0.32683	-2.378000	0.00596	-2.141000	0.00338	ACC		0.532	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
SIGLEC5	8778	broad.mit.edu	37	19	52115536	52115536	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52115536T>C	ENST00000534261.2	-	10	2003	c.1604A>G	c.(1603-1605)gAc>gGc	p.D535G	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.D535G|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.D535G|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.D535G|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.D535G			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	535					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.D535G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGCCTCCTGGTCCTTAGGCTC	0.552																																					p.D535G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1604G	19						.						143.0	127.0	132.0					19																	52115536		2203	4300	6503	56807348	SO:0001583	missense	8778	exon9			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1604A>G	19.37:g.52115536T>C	ENSP00000473238:p.Asp535Gly	Somatic		Capture	Illumina HiSeq	Phase_I	56807348	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	5.777	0.327696	0.10956	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.07688	3.17;3.17	3.51	2.49	0.30216	.	.	.	.	.	T	0.06096	0.0158	L	0.31664	0.95	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.37454	-0.9705	9	0.33940	T	0.23	.	5.562	0.17150	0.0:0.1265:0.0:0.8735	.	535	O15389	SIGL5_HUMAN	G	535	ENSP00000222107:D535G;ENSP00000415200:D535G	ENSP00000222107:D535G	D	-	2	0	SIGLEC5	56807348	0.011000	0.17503	0.012000	0.15200	0.026000	0.11368	2.299000	0.43611	0.722000	0.32252	0.528000	0.53228	GAC		0.552	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
SIGLEC5	8778	broad.mit.edu	37	19	52132760	52132760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52132760G>A	ENST00000534261.2	-	4	950	c.551C>T	c.(550-552)gCc>gTc	p.A184V	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.A184V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.A184V|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.A184V|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.A184V			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	184	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A184V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGGCTGAGGGCATTCCCCGT	0.662																																					p.A184V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	19						.						13.0	14.0	13.0					19																	52132760		2194	4262	6456	56824572	SO:0001583	missense	8778	exon3			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.551C>T	19.37:g.52132760G>A	ENSP00000473238:p.Ala184Val	Somatic		Capture	Illumina HiSeq	Phase_I	56824572	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633887	0.29068	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.21361	2.01;2.01	3.83	0.422	0.16457	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.142958	0.32218	N	0.006409	T	0.15392	0.0371	L	0.48260	1.515	0.09310	N	1	B	0.24092	0.097	B	0.22880	0.042	T	0.15350	-1.0440	10	0.46703	T	0.11	.	5.9309	0.19138	0.3521:0.0:0.6479:0.0	.	184	O15389	SIGL5_HUMAN	V	184	ENSP00000222107:A184V;ENSP00000415200:A184V	ENSP00000222107:A184V	A	-	2	0	SIGLEC5	56824572	0.042000	0.20092	0.005000	0.12908	0.005000	0.04900	1.075000	0.30716	0.076000	0.16826	-0.189000	0.12847	GCC		0.662	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
ZNF577	84765	broad.mit.edu	37	19	52376374	52376374	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52376374C>A	ENST00000301399.5	-	7	1234	c.869G>T	c.(868-870)aGa>aTa	p.R290I	ZNF577_ENST00000420592.1_Missense_Mutation_p.R231I|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R231I|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	290					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)	p.R283I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGAAGTCTCTGGTGTGC	0.453																																					p.R290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869T	19						.						86.0	82.0	83.0					19																	52376374		2203	4300	6503	57068186	SO:0001583	missense	84765	exon7			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.869G>T	19.37:g.52376374C>A	ENSP00000301399:p.Arg290Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57068186	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	13.39	2.222105	0.39300	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.0	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39200	0.1069	M	0.66506	2.035	0.33413	D	0.578913	D;P	0.56521	0.976;0.893	P;B	0.55667	0.781;0.33	T	0.57814	-0.7746	9	0.87932	D	0	.	10.5553	0.45114	0.1928:0.8072:0.0:0.0	.	290;231	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	I	290;231;231;290	ENSP00000301399:R290I;ENSP00000413476:R231I;ENSP00000389652:R231I;ENSP00000404509:R290I	ENSP00000301399:R290I	R	-	2	0	ZNF577	57068186	0.000000	0.05858	0.830000	0.32933	0.350000	0.29205	0.182000	0.16900	1.652000	0.50683	0.591000	0.81541	AGA		0.453	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679	
ZNF350	59348	broad.mit.edu	37	19	52468595	52468595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52468595C>A	ENST00000243644.4	-	5	1338	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	371					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E371*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AAGGGTTTCTCTCCTGTGTGA	0.428																																					p.E371X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1111T	19						.						64.0	62.0	63.0					19																	52468595		2203	4300	6503	57160407	SO:0001587	stop_gained	59348	exon5			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1111G>T	19.37:g.52468595C>A	ENSP00000243644:p.Glu371*	Somatic		Capture	Illumina HiSeq	Phase_I	57160407	NM_021632	Q96G73|Q9HAQ4	Nonsense_Mutation	SNP	ENST00000243644.4	37	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	38	6.659126	0.97743	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.41	3.41	0.39046	.	0.214166	0.23606	N	0.046395	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7589	0.62954	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000243644:E371X	E	-	1	0	ZNF350	57160407	0.900000	0.30661	0.999000	0.59377	0.863000	0.49368	1.836000	0.39191	1.743000	0.51761	0.591000	0.81541	GAG		0.428	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
ZNF615	284370	broad.mit.edu	37	19	52496292	52496292	+	Silent	SNP	C	C	T	rs146634089		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52496292C>T	ENST00000602063.1	-	6	2386	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	ZNF615_ENST00000376716.5_Silent_p.P679P|ZNF615_ENST00000391795.3_Silent_p.P684P|ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000598071.1_Silent_p.P690P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	679					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)	p.P679P(1)|p.P690P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATTTGTACGGTTTCTCTC	0.408																																					p.P679P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2037A	19						.	C	,	0,4406		0,0,2203	160.0	155.0	157.0		2070,2037	-5.7	0.0	19	dbSNP_134	157	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF615	NM_001199324.1,NM_198480.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	690/743,679/732	52496292	3,13003	2203	4300	6503	57188104	SO:0001819	synonymous_variant	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2037G>A	19.37:g.52496292C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57188104	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																				0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF615	284370	broad.mit.edu	37	19	52496902	52496902	+	Missense_Mutation	SNP	C	C	T	rs144628570	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52496902C>T	ENST00000602063.1	-	6	1776	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ZNF615_ENST00000376716.5_Missense_Mutation_p.R476Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R481Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R487Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.R487Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	476					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)	p.R476Q(1)|p.R487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGTATGAGTTCGCTGATGTAC	0.443																																					p.R476Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1427A	19						.	C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	103.0	84.0	90.0		1460,1427	2.8	1.0	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF615	NM_001199324.1,NM_198480.3	43,43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	487/743,476/732	52496902	4,13002	2203	4300	6503	57188714	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1427G>A	19.37:g.52496902C>T	ENSP00000473089:p.Arg476Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57188714	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112115	0.56398	6.81E-4	1.16E-4	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.24723	1.84;1.84	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35711	0.0941	L	0.43646	1.37	0.31116	N	0.709405	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;P;P	0.56563	0.801;0.7;0.7;0.801	T	0.39502	-0.9611	9	0.72032	D	0.01	.	12.8823	0.58024	0.0:1.0:0.0:0.0	.	481;483;487;476	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	476;486;481;486	ENSP00000365906:R476Q;ENSP00000375672:R481Q	ENSP00000347019:R486Q	R	-	2	0	ZNF615	57188714	0.000000	0.05858	1.000000	0.80357	0.824000	0.46624	-0.039000	0.12124	1.578000	0.49821	0.484000	0.47621	CGA		0.443	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF614	80110	broad.mit.edu	37	19	52519847	52519847	+	Missense_Mutation	SNP	C	C	T	rs373478567		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52519847C>T	ENST00000270649.6	-	5	1548	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R335Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTATGAGTTCGCTGATGTAC	0.428																																					p.R335Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1004A	19						.	C	GLN/ARG	0,4406		0,0,2203	129.0	120.0	123.0		1004	1.6	0.8	19		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF614	NM_025040.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	335/586	52519847	1,13005	2203	4300	6503	57211659	SO:0001583	missense	80110	exon5			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1004G>A	19.37:g.52519847C>T	ENSP00000270649:p.Arg335Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57211659	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567223	0.65651	0.0	1.16E-4	ENSG00000142556	ENST00000270649	T	0.24723	1.84	3.8	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35422	0.0931	L	0.42487	1.325	0.20926	N	0.999824	D	0.89917	1.0	D	0.66979	0.948	T	0.10451	-1.0629	9	0.59425	D	0.04	.	5.3834	0.16204	0.0:0.6333:0.1675:0.1992	.	335	Q8N883	ZN614_HUMAN	Q	335	ENSP00000270649:R335Q	ENSP00000270649:R335Q	R	-	2	0	ZNF614	57211659	0.000000	0.05858	0.774000	0.31636	0.997000	0.91878	-0.130000	0.10498	0.285000	0.22329	0.655000	0.94253	CGA		0.428	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
ZNF614	80110	broad.mit.edu	37	19	52521312	52521312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52521312C>A	ENST00000270649.6	-	4	731	c.187G>T	c.(187-189)Gga>Tga	p.G63*	ZNF614_ENST00000356322.6_Nonsense_Mutation_p.G63*	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G63*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTTCTTGTCCATGTGCCAAC	0.413																																					p.G63X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G187T	19						.						172.0	151.0	158.0					19																	52521312		2203	4300	6503	57213124	SO:0001587	stop_gained	80110	exon4			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.187G>T	19.37:g.52521312C>A	ENSP00000270649:p.Gly63*	Somatic		Capture	Illumina HiSeq	Phase_I	57213124	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341986	0.95783	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	.	.	.	2.85	-1.33	0.09172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	3.3646	0.07199	0.1907:0.5011:0.0:0.3082	.	.	.	.	X	63	.	ENSP00000270649:G63X	G	-	1	0	ZNF614	57213124	0.000000	0.05858	0.002000	0.10522	0.657000	0.38888	-0.056000	0.11787	-0.212000	0.10109	0.591000	0.81541	GGA		0.413	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
ZNF432	9668	broad.mit.edu	37	19	52538090	52538090	+	Missense_Mutation	SNP	C	C	T	rs376544430		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52538090C>T	ENST00000594154.1	-	5	1054	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ZNF432_ENST00000221315.5_Missense_Mutation_p.R281Q			O94892	ZN432_HUMAN	zinc finger protein 432	281					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)	p.R281Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGTATGAGTTCGCTGATGTTC	0.388																																					p.R281Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	19						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	92.0	92.0		842	2.9	1.0	19		92	0,8600		0,0,4300	no	missense	ZNF432	NM_014650.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	281/653	52538090	1,13005	2203	4300	6503	57229902	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.842G>A	19.37:g.52538090C>T	ENSP00000470488:p.Arg281Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57229902	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998908	0.54147	2.27E-4	0.0	ENSG00000256087	ENST00000221315	T	0.24723	1.84	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38878	0.1057	L	0.48935	1.535	0.20821	N	0.999844	D	0.71674	0.998	D	0.64321	0.924	T	0.07849	-1.0751	9	0.62326	D	0.03	.	9.9255	0.41489	0.0:0.7895:0.2105:0.0	.	281	O94892	ZN432_HUMAN	Q	281	ENSP00000221315:R281Q	ENSP00000221315:R281Q	R	-	2	0	ZNF432	57229902	0.000000	0.05858	1.000000	0.80357	0.947000	0.59692	-1.551000	0.02178	1.630000	0.50440	0.585000	0.79938	CGA		0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF432	9668	broad.mit.edu	37	19	52538436	52538436	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52538436G>A	ENST00000594154.1	-	5	708	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	ZNF432_ENST00000221315.5_Missense_Mutation_p.L166F			O94892	ZN432_HUMAN	zinc finger protein 432	166					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)	p.L166F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTACCATGAAGAAATGATTTC	0.313																																					p.L166F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	19						.						53.0	52.0	52.0					19																	52538436		2202	4300	6502	57230248	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.496C>T	19.37:g.52538436G>A	ENSP00000470488:p.Leu166Phe	Somatic		Capture	Illumina HiSeq	Phase_I	57230248	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.221127	0.00024	.	.	ENSG00000256087	ENST00000221315	T	0.05717	3.4	3.69	-5.52	0.02560	.	.	.	.	.	T	0.04724	0.0128	L	0.49778	1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.45353	T	0.12	.	0.2483	0.00202	0.3142:0.1371:0.2044:0.3443	.	166	O94892	ZN432_HUMAN	F	166	ENSP00000221315:L166F	ENSP00000221315:L166F	L	-	1	0	ZNF432	57230248	0.008000	0.16893	0.000000	0.03702	0.010000	0.07245	0.108000	0.15396	-0.693000	0.05121	-0.469000	0.05056	CTT		0.313	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF616	90317	broad.mit.edu	37	19	52618275	52618275	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52618275C>A	ENST00000600228.1	-	4	2403	c.2142G>T	c.(2140-2142)gaG>gaT	p.E714D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	714					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)	p.E714D(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTATCTTTTCTCTCCAGTGT	0.378																																					p.E714D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2142T	19						.						137.0	133.0	135.0					19																	52618275		2203	4300	6503	57310087	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2142G>T	19.37:g.52618275C>A	ENSP00000471000:p.Glu714Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57310087	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693067	0.48202	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.65	1.65	0.23941	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	N	0.25992	0.78	0.24636	N	0.993598	P	0.34892	0.474	B	0.39299	0.296	T	0.27739	-1.0065	8	0.56958	D	0.05	.	8.8354	0.35109	0.0:1.0:0.0:0.0	.	714	Q08AN1	ZN616_HUMAN	D	714	.	ENSP00000328722:E714D	E	-	3	2	ZNF616	57310087	0.015000	0.18098	0.006000	0.13384	0.160000	0.22226	0.211000	0.17474	0.883000	0.36040	0.484000	0.47621	GAG		0.378	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF836	162962	broad.mit.edu	37	19	52659760	52659760	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52659760T>C	ENST00000322146.8	-	5	1697	c.1176A>G	c.(1174-1176)ggA>ggG	p.G392G	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.G392G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	392					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)	p.G392G(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAAAGGACTTTCCACATATGT	0.393																																					p.G392G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1176G	19						.						95.0	99.0	98.0					19																	52659760		2186	4293	6479	57351572	SO:0001819	synonymous_variant	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1176A>G	19.37:g.52659760T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57351572	NM_001102657		Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																				0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF836	162962	broad.mit.edu	37	19	52660648	52660648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52660648C>A	ENST00000322146.8	-	5	809	c.288G>T	c.(286-288)caG>caT	p.Q96H	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.Q96H	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	96					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)	p.Q96H(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCAAGGTCCTGTAGATTTT	0.328																																					p.Q96H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G288T	19						.						93.0	86.0	88.0					19																	52660648		1926	4151	6077	57352460	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.288G>T	19.37:g.52660648C>A	ENSP00000325038:p.Gln96His	Somatic		Capture	Illumina HiSeq	Phase_I	57352460	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277485	0.00254	.	.	ENSG00000196267	ENST00000322146	T	0.05447	3.44	1.31	-1.37	0.09056	.	.	.	.	.	T	0.01523	0.0049	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	9	0.15499	T	0.54	.	5.6025	0.17361	0.4465:0.5535:0.0:0.0	.	96	Q6ZNA1	ZN836_HUMAN	H	96	ENSP00000325038:Q96H	ENSP00000325038:Q96H	Q	-	3	2	ZNF836	57352460	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.318000	0.08050	-0.440000	0.07211	-0.515000	0.04445	CAG		0.328	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF480	147657	broad.mit.edu	37	19	52825675	52825675	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52825675G>T	ENST00000595962.1	+	5	1238	c.1172G>T	c.(1171-1173)aGa>aTa	p.R391I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.R314I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.R348I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R372I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAACATTGGAGAATTCATACA	0.348																																					p.R391I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1172T	19						.						62.0	68.0	66.0					19																	52825675		2203	4300	6503	57517487	SO:0001583	missense	147657	exon5			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1172G>T	19.37:g.52825675G>T	ENSP00000471754:p.Arg391Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57517487	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516897	0.27123	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.24908	1.83;1.83;1.83	2.21	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34308	0.0893	M	0.81341	2.54	0.09310	N	1	D;D	0.67145	0.987;0.996	P;P	0.55785	0.647;0.784	T	0.18178	-1.0345	9	0.59425	D	0.04	.	0.5905	0.00727	0.2174:0.1527:0.3203:0.3095	.	348;391	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	391;348;314	ENSP00000417424:R391I;ENSP00000334164:R348I;ENSP00000335670:R314I	ENSP00000334164:R348I	R	+	2	0	ZNF480	57517487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.204000	0.01233	-1.241000	0.02526	-0.534000	0.04291	AGA		0.348	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684	
ZNF610	162963	broad.mit.edu	37	19	52856965	52856965	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52856965G>A	ENST00000403906.3	+	4	550	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ZNF610_ENST00000601151.1_Missense_Mutation_p.E32K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E32K|ZNF610_ENST00000321287.8_Missense_Mutation_p.E32K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E32K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CGTGGCCATCGAATTCTCTCA	0.438																																					p.E32K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94A	19						.						99.0	99.0	99.0					19																	52856965		2203	4300	6503	57548777	SO:0001583	missense	162963	exon4			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.94G>A	19.37:g.52856965G>A	ENSP00000383922:p.Glu32Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57548777	NM_001161425	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795448	0.31777	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.01767	4.65;4.65;4.65	1.47	0.375	0.16188	Krueppel-associated box (4);	.	.	.	.	T	0.02455	0.0075	M	0.79926	2.475	0.22292	N	0.999225	B;B	0.31611	0.284;0.331	B;B	0.18561	0.007;0.022	T	0.40001	-0.9586	9	0.56958	D	0.05	.	2.203	0.03928	0.1998:0.0:0.4993:0.3009	.	32;32	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	K	32	ENSP00000383922:E32K;ENSP00000324441:E32K;ENSP00000327597:E32K	ENSP00000324441:E32K	E	+	1	0	ZNF610	57548777	0.170000	0.23016	0.914000	0.36105	0.277000	0.26821	1.766000	0.38491	0.178000	0.19917	0.563000	0.77884	GAA		0.438	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF610	162963	broad.mit.edu	37	19	52869386	52869386	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52869386G>T	ENST00000403906.3	+	6	1211	c.755G>T	c.(754-756)aGa>aTa	p.R252I	ZNF610_ENST00000601151.1_Missense_Mutation_p.R209I|ZNF610_ENST00000327920.8_Missense_Mutation_p.R252I|ZNF610_ENST00000321287.8_Missense_Mutation_p.R252I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R252I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAACATTGGAGAATTCATACT	0.393																																					p.R252I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755T	19						.						59.0	60.0	59.0					19																	52869386		2203	4300	6503	57561198	SO:0001583	missense	162963	exon6			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.755G>T	19.37:g.52869386G>T	ENSP00000383922:p.Arg252Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57561198	NM_001161425	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	9.188	1.025237	0.19433	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.24908	1.83;1.83	1.82	-0.914	0.10497	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	M	0.70787	2.145	0.09310	N	1	P;P	0.52316	0.952;0.921	B;B	0.39904	0.313;0.274	T	0.19976	-1.0289	9	0.87932	D	0	.	1.7819	0.03033	0.1405:0.1972:0.4624:0.1999	.	209;252	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	I	252;209;252	ENSP00000383922:R252I;ENSP00000327597:R252I	ENSP00000324441:R209I	R	+	2	0	ZNF610	57561198	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.518000	0.06267	-0.341000	0.08376	-0.518000	0.04402	AGA		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF610	162963	broad.mit.edu	37	19	52869757	52869757	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52869757G>A	ENST00000403906.3	+	6	1582	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ZNF610_ENST00000601151.1_Missense_Mutation_p.E333K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E376K|ZNF610_ENST00000321287.8_Missense_Mutation_p.E376K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E376K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAATGTAACGAATGTGGAAG	0.403																																					p.E376K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	19						.						81.0	83.0	82.0					19																	52869757		2203	4300	6503	57561569	SO:0001583	missense	162963	exon6			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1126G>A	19.37:g.52869757G>A	ENSP00000383922:p.Glu376Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57561569	NM_001161425	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582887	0.28268	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.16597	2.33;2.33	1.82	0.716	0.18191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	N	0.25647	0.755	0.09310	N	1	P;P	0.41524	0.753;0.623	B;B	0.21360	0.03;0.034	T	0.21655	-1.0239	9	0.87932	D	0	.	6.8682	0.24104	0.1619:0.0:0.8381:0.0	.	333;376	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	K	376;333;376	ENSP00000383922:E376K;ENSP00000327597:E376K	ENSP00000324441:E333K	E	+	1	0	ZNF610	57561569	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.425000	0.07017	0.089000	0.17243	0.467000	0.42956	GAA		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF880	400713	broad.mit.edu	37	19	52887661	52887661	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52887661C>A	ENST00000422689.2	+	4	843	c.828C>A	c.(826-828)gtC>gtA	p.V276V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	276					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V276V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GTGGCAAAGTCTTCACTCAAA	0.408																																					p.V276V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828A	19						.						62.0	57.0	59.0					19																	52887661		1568	3582	5150	57579473	SO:0001819	synonymous_variant	400713	exon4			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.828C>A	19.37:g.52887661C>A		Somatic		Capture	Illumina HiSeq	Phase_I	57579473	NM_001145434	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																				0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434	
ZNF528	84436	broad.mit.edu	37	19	52919827	52919827	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52919827G>T	ENST00000360465.3	+	7	2148	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	574					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)	p.K574N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACTGAAAAGAAATCTCATG	0.413																																					p.K574N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1722T	19						.						109.0	102.0	104.0					19																	52919827		2203	4300	6503	57611639	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1722G>T	19.37:g.52919827G>T	ENSP00000353652:p.Lys574Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57611639	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657029	0.14580	.	.	ENSG00000167555	ENST00000360465	T	0.20069	2.1	1.99	-0.442	0.12253	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	N	0.25380	0.74	0.09310	N	1	B	0.27625	0.183	B	0.31495	0.131	T	0.31998	-0.9923	9	0.87932	D	0	.	5.5367	0.17016	0.4493:0.0:0.5507:0.0	.	574	Q3MIS6	ZN528_HUMAN	N	574	ENSP00000353652:K574N	ENSP00000353652:K574N	K	+	3	2	ZNF528	57611639	0.164000	0.22935	0.001000	0.08648	0.001000	0.01503	0.492000	0.22435	-0.209000	0.10156	-0.229000	0.12294	AAG		0.413	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF534	147658	broad.mit.edu	37	19	52941032	52941032	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:52941032A>G	ENST00000332323.6	+	4	419	c.358A>G	c.(358-360)Aat>Gat	p.N120D	ZNF534_ENST00000433050.1_Missense_Mutation_p.N107D|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	120					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)	p.N120D(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GTCACTTAAAAATCAACATGG	0.353																																					p.N107D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A319G	19						.						65.0	55.0	58.0					19																	52941032		1568	3582	5150	57632844	SO:0001583	missense	147658	exon4			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.358A>G	19.37:g.52941032A>G	ENSP00000327538:p.Asn120Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57632844	NM_001143938	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	1.430	-0.570448	0.03910	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.06768	3.26;3.26	1.56	0.151	0.14888	.	.	.	.	.	T	0.04272	0.0118	L	0.33339	1.005	0.09310	N	1	B;B	0.31174	0.311;0.006	B;B	0.24394	0.053;0.01	T	0.40683	-0.9550	9	0.11182	T	0.66	.	2.065	0.03601	0.4233:0.2899:0.0:0.2868	.	107;120	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	D	120;107;119	ENSP00000327538:N120D;ENSP00000391358:N107D	ENSP00000327538:N120D	N	+	1	0	ZNF534	57632844	0.000000	0.05858	0.020000	0.16555	0.174000	0.22865	-0.131000	0.10482	0.691000	0.31592	0.172000	0.16884	AAT		0.353	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
ZNF808	388558	broad.mit.edu	37	19	53058685	53058685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53058685G>T	ENST00000359798.4	+	5	2696	c.2516G>T	c.(2515-2517)aGa>aTa	p.R839I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	839					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGTCATCATAGAATTCATACT	0.368																																					p.R839I												.	.	0			c.G2516T	19						.						98.0	102.0	101.0					19																	53058685		2203	4300	6503	57750497	SO:0001583	missense	388558	exon5			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2516G>T	19.37:g.53058685G>T	ENSP00000352846:p.Arg839Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57750497	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	8.930	0.963232	0.18583	.	.	ENSG00000198482	ENST00000359798	T	0.24908	1.83	1.51	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39489	0.1080	M	0.74389	2.26	0.09310	N	1	D	0.65815	0.995	D	0.68765	0.96	T	0.25293	-1.0136	9	0.49607	T	0.09	.	1.6108	0.02693	0.1484:0.1981:0.4532:0.2002	.	839	Q8N4W9	ZN808_HUMAN	I	839	ENSP00000352846:R839I	ENSP00000352846:R839I	R	+	2	0	ZNF808	57750497	0.000000	0.05858	0.000000	0.03702	0.345000	0.29048	-1.509000	0.02264	-0.675000	0.05246	0.205000	0.17691	AGA		0.368	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ZNF83	55769	broad.mit.edu	37	19	53117566	53117566	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53117566C>A	ENST00000597597.1	-	2	2505	c.252G>T	c.(250-252)gaG>gaT	p.E84D	ZNF83_ENST00000544146.1_Missense_Mutation_p.E84D|ZNF83_ENST00000541777.2_Missense_Mutation_p.E84D|ZNF83_ENST00000301096.3_Missense_Mutation_p.E84D|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.E84D|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.E84D|ZNF83_ENST00000391789.4_Missense_Mutation_p.E84D			P51522	ZNF83_HUMAN	zinc finger protein 83	84					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)	p.E84D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTTGCTTTCTCTTTTTGTG	0.358																																					p.E84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G252T	19						.						71.0	73.0	72.0					19																	53117566		2203	4300	6503	57809378	SO:0001583	missense	55769	exon5			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.252G>T	19.37:g.53117566C>A	ENSP00000472619:p.Glu84Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57809378	NM_001105550	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.245051	0.22796	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09073	3.05;3.05;3.05;3.05;3.05;3.02	1.87	-0.488	0.12056	.	.	.	.	.	T	0.07593	0.0191	L	0.46670	1.46	0.18873	N	0.999988	P;P	0.49185	0.615;0.92	B;B	0.40982	0.173;0.345	T	0.27297	-1.0078	9	0.87932	D	0	.	5.6438	0.17579	0.0:0.6652:0.2018:0.133	.	84;84	P51522-2;P51522	.;ZNF83_HUMAN	D	84	ENSP00000445993:E84D;ENSP00000301096:E84D;ENSP00000445470:E84D;ENSP00000440713:E84D;ENSP00000439681:E84D;ENSP00000375666:E84D	ENSP00000301096:E84D	E	-	3	2	ZNF83	57809378	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	-0.483000	0.06536	-0.055000	0.13244	0.591000	0.81541	GAG		0.358	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300	
ZNF611	81856	broad.mit.edu	37	19	53208648	53208648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53208648C>A	ENST00000319783.1	-	7	1976	c.1660G>T	c.(1660-1662)Gca>Tca	p.A554S	ZNF611_ENST00000602162.1_Missense_Mutation_p.A485S|ZNF611_ENST00000543227.1_Missense_Mutation_p.A554S|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554S|ZNF611_ENST00000453741.2_Missense_Mutation_p.A485S|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485S	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	554					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)	p.A554S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTATGTTTTGCCAGATAGGAA	0.403																																					p.A554S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660T	19						.						191.0	189.0	189.0					19																	53208648		2203	4297	6500	57900460	SO:0001583	missense	81856	exon6			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1660G>T	19.37:g.53208648C>A	ENSP00000322427:p.Ala554Ser	Somatic		Capture	Illumina HiSeq	Phase_I	57900460	NM_001161499	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	4.553	0.102748	0.08731	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.15952	2.38;2.38;3.9;2.38	1.27	-0.0743	0.13731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.05031	-0.125	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.41787	-0.9489	9	0.22109	T	0.4	.	4.8769	0.13660	0.0:0.6215:0.0:0.3785	.	554	Q8N823	ZN611_HUMAN	S	554;554;485;554	ENSP00000437616:A554S;ENSP00000439211:A554S;ENSP00000443505:A485S;ENSP00000322427:A554S	ENSP00000322427:A554S	A	-	1	0	ZNF611	57900460	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-6.871000	0.00051	-0.179000	0.10654	0.306000	0.20318	GCA		0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF600	162966	broad.mit.edu	37	19	53269036	53269036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53269036C>A	ENST00000338230.3	-	3	2240	c.1973G>T	c.(1972-1974)aGa>aTa	p.R658I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	658					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)	p.R658I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGATGAATTCTCCTATGTCT	0.383																																					p.R658I	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1973T	19						.						114.0	114.0	114.0					19																	53269036		2203	4300	6503	57960848	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1973G>T	19.37:g.53269036C>A	ENSP00000344791:p.Arg658Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57960848	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591629	0.13812	.	.	ENSG00000189190	ENST00000338230	T	0.24908	1.83	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25344	0.0616	M	0.72624	2.21	0.09310	N	1	P	0.46395	0.877	P	0.44561	0.453	T	0.10543	-1.0625	9	0.66056	D	0.02	.	2.6707	0.05066	0.3815:0.3584:0.0:0.26	.	658	Q6ZNG1	ZN600_HUMAN	I	658	ENSP00000344791:R658I	ENSP00000344791:R658I	R	-	2	0	ZNF600	57960848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.136000	0.03222	-1.081000	0.03105	-0.864000	0.03007	AGA		0.383	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF600	162966	broad.mit.edu	37	19	53270017	53270017	+	Missense_Mutation	SNP	T	T	C	rs138833177	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53270017T>C	ENST00000338230.3	-	3	1259	c.992A>G	c.(991-993)aAa>aGa	p.K331R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	331					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)	p.K331R(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AACCTTACATTTGTATGGTTT	0.388													-|||	2	0.000399361	0.0	0.0	5008	,	,		21745	0.002		0.0	False		,,,				2504	0.0				p.K331R	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A992G	19						.	T	ARG/LYS	6,4400		0,6,2197	66.0	68.0	67.0		992	1.5	0.3	19	dbSNP_134	67	0,8600		0,0,4300	yes	missense	ZNF600	NM_198457.2	26	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	benign	331/723	53270017	6,13000	2203	4300	6503	57961829	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.992A>G	19.37:g.53270017T>C	ENSP00000344791:p.Lys331Arg	Somatic		Capture	Illumina HiSeq	Phase_I	57961829	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	7.986	0.752191	0.15778	0.001362	0.0	ENSG00000189190	ENST00000338230	T	0.03831	3.79	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	L	0.38838	1.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38351	-0.9665	9	0.52906	T	0.07	.	4.227	0.10585	0.0:0.1953:0.0:0.8047	.	331	Q6ZNG1	ZN600_HUMAN	R	331	ENSP00000344791:K331R	ENSP00000344791:K331R	K	-	2	0	ZNF600	57961829	0.000000	0.05858	0.333000	0.25482	0.197000	0.23852	-0.777000	0.04669	0.696000	0.31696	0.155000	0.16302	AAA		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF28	7576	broad.mit.edu	37	19	53303302	53303302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53303302C>A	ENST00000457749.2	-	4	1915	c.1796G>T	c.(1795-1797)aGa>aTa	p.R599I	ZNF28_ENST00000360272.4_Missense_Mutation_p.R546I|ZNF28_ENST00000414252.2_Missense_Mutation_p.R546I|ZNF28_ENST00000438150.2_Missense_Mutation_p.R546I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	599					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)	p.R546I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGTATGAACTCTCTGATGTTG	0.448																																					p.R599I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1796T	19						.						173.0	168.0	170.0					19																	53303302		2203	4300	6503	57995114	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1796G>T	19.37:g.53303302C>A	ENSP00000397693:p.Arg599Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57995114	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.37	1.330830	0.24167	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.13901	4.29;4.29;4.29;4.29;2.55	1.94	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16300	0.0392	M	0.69523	2.12	0.09310	N	1	D	0.59357	0.985	P	0.48840	0.592	T	0.03008	-1.1083	9	0.66056	D	0.02	.	1.4236	0.02318	0.1462:0.3522:0.2905:0.2111	.	599	P17035	ZNF28_HUMAN	I	546;599;546;546;546	ENSP00000412143:R546I;ENSP00000397693:R599I;ENSP00000353410:R546I;ENSP00000444965:R546I;ENSP00000375661:R546I	ENSP00000353410:R546I	R	-	2	0	ZNF28	57995114	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.172000	0.00042	-1.612000	0.01579	0.454000	0.30748	AGA		0.448	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF28	7576	broad.mit.edu	37	19	53303517	53303517	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53303517T>A	ENST00000457749.2	-	4	1700	c.1581A>T	c.(1579-1581)gaA>gaT	p.E527D	ZNF28_ENST00000360272.4_Missense_Mutation_p.E474D|ZNF28_ENST00000414252.2_Missense_Mutation_p.E474D|ZNF28_ENST00000438150.2_Missense_Mutation_p.E474D	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	527					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)	p.E474D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTTGCCACATTCATTACACA	0.378																																					p.E527D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1581T	19						.						93.0	91.0	92.0					19																	53303517		2203	4300	6503	57995329	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1581A>T	19.37:g.53303517T>A	ENSP00000397693:p.Glu527Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57995329	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	9.662	1.144509	0.21288	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	1.89	-0.506	0.11989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	L	0.42744	1.35	0.09310	N	1	B	0.25955	0.138	B	0.30572	0.117	T	0.38929	-0.9638	9	0.44086	T	0.13	.	5.9656	0.19322	0.0:0.4636:0.0:0.5364	.	527	P17035	ZNF28_HUMAN	D	474;527;474;474;474	ENSP00000412143:E474D;ENSP00000397693:E527D;ENSP00000353410:E474D;ENSP00000444965:E474D;ENSP00000375661:E474D	ENSP00000353410:E474D	E	-	3	2	ZNF28	57995329	0.000000	0.05858	0.006000	0.13384	0.034000	0.12701	-9.258000	0.00012	-0.379000	0.07906	0.333000	0.21579	GAA		0.378	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF28	7576	broad.mit.edu	37	19	53304660	53304660	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53304660C>T	ENST00000457749.2	-	4	557	c.438G>A	c.(436-438)tcG>tcA	p.S146S	ZNF28_ENST00000360272.4_Silent_p.S93S|ZNF28_ENST00000414252.2_Silent_p.S93S|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000438150.2_Silent_p.S93S	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	146					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)	p.S93S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGGCAGATGCGAATGAAAGC	0.398																																					p.S146S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G438A	19						.						228.0	218.0	221.0					19																	53304660		2203	4300	6503	57996472	SO:0001819	synonymous_variant	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.438G>A	19.37:g.53304660C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57996472	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	CCDS33093.2																																																																																				0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF468	90333	broad.mit.edu	37	19	53344878	53344878	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53344878G>T	ENST00000595646.1	-	4	789	c.669C>A	c.(667-669)tcC>tcA	p.S223S	ZNF468_ENST00000390651.4_Silent_p.S170S|ZNF468_ENST00000396409.4_Silent_p.S170S|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S223S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGCAATTAAAGGATTTGAAGC	0.323																																					p.S170S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510A	19						.						75.0	71.0	72.0					19																	53344878		2203	4300	6503	58036690	SO:0001819	synonymous_variant	90333	exon5			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.669C>A	19.37:g.53344878G>T		Somatic		Capture	Illumina HiSeq	Phase_I	58036690	NM_199132	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.323	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
ZNF320	162967	broad.mit.edu	37	19	53384090	53384090	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53384090C>A	ENST00000595635.1	-	8	1790	c.1289G>T	c.(1288-1290)aGa>aTa	p.R430I	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R430I	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	430					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)	p.R430I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTCCTATGTCTTTCAAGGTG	0.393																																					p.R430I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289T	19						.						88.0	78.0	81.0					19																	53384090		2203	4300	6503	58075902	SO:0001583	missense	162967	exon4			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1289G>T	19.37:g.53384090C>A	ENSP00000473091:p.Arg430Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58075902	NM_207333	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	4.937	0.174083	0.09391	.	.	ENSG00000182986	ENST00000391781	T	0.26223	1.75	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	L	0.44542	1.39	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.30679	-0.9970	9	0.30854	T	0.27	.	4.535	0.12024	0.3578:0.5054:0.0:0.1368	.	430	A2RRD8	ZN320_HUMAN	I	430	ENSP00000375660:R430I	ENSP00000375660:R430I	R	-	2	0	ZNF320	58075902	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	-10.327000	0.00007	-0.400000	0.07656	0.184000	0.17185	AGA		0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
ZNF320	162967	broad.mit.edu	37	19	53384280	53384280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53384280G>A	ENST00000595635.1	-	8	1600	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R367W	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	367					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)	p.R367W(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GAATCACTCCGGAAAGCCTTG	0.408																																					p.R367W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	19						.						126.0	120.0	122.0					19																	53384280		2203	4300	6503	58076092	SO:0001583	missense	162967	exon4			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1099C>T	19.37:g.53384280G>A	ENSP00000473091:p.Arg367Trp	Somatic		Capture	Illumina HiSeq	Phase_I	58076092	NM_207333	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	9.289	1.050069	0.19827	.	.	ENSG00000182986	ENST00000391781	T	0.07567	3.18	0.49	0.49	0.16861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	L	0.57536	1.79	0.09310	N	0.999996	B	0.33120	0.398	B	0.24269	0.052	T	0.24728	-1.0152	8	0.87932	D	0	.	.	.	.	.	367	A2RRD8	ZN320_HUMAN	W	367	ENSP00000375660:R367W	ENSP00000375660:R367W	R	-	1	2	ZNF320	58076092	0.017000	0.18338	0.002000	0.10522	0.223000	0.24884	-0.262000	0.08682	0.510000	0.28216	0.194000	0.17425	CGG		0.408	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
ZNF816	125893	broad.mit.edu	37	19	53453973	53453973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53453973C>T	ENST00000357666.4	-	5	1355	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R352Q|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	352					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)	p.R352Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGCTGAATTTCGACCAAAAGT	0.423																																					p.R352Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	19						.						151.0	155.0	153.0					19																	53453973		2203	4300	6503	58145785	SO:0001583	missense	125893	exon5			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1055G>A	19.37:g.53453973C>T	ENSP00000350295:p.Arg352Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58145785	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.791334	0.00623	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.35973	1.28;1.28	1.79	-3.57	0.04612	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	N	0.10809	0.05	0.09310	N	1	P	0.34684	0.463	B	0.12837	0.008	T	0.24261	-1.0165	9	0.02654	T	1	.	3.4881	0.07627	0.2909:0.2263:0.0:0.4828	.	352	Q0VGE8	ZN816_HUMAN	Q	352	ENSP00000350295:R352Q;ENSP00000403266:R352Q	ENSP00000350295:R352Q	R	-	2	0	ZNF816	58145785	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.109000	0.00008	-2.678000	0.00410	-1.054000	0.02325	CGA		0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF347	84671	broad.mit.edu	37	19	53644491	53644491	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53644491A>C	ENST00000334197.7	-	5	1658	c.1590T>G	c.(1588-1590)aaT>aaG	p.N530K	ZNF347_ENST00000452676.2_Missense_Mutation_p.N531K|ZNF347_ENST00000601469.2_Missense_Mutation_p.N531K|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N530K(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCTTTGATGATTTGCAAGGT	0.403																																					p.N530K	Melanoma(64;205 1597 17324 45721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1590G	19						.						141.0	140.0	140.0					19																	53644491		2203	4300	6503	58336303	SO:0001583	missense	84671	exon5			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1590T>G	19.37:g.53644491A>C	ENSP00000334146:p.Asn530Lys	Somatic		Capture	Illumina HiSeq	Phase_I	58336303	NM_032584	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447123	0.04572	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07567	3.18;3.18	3.01	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.04245	-0.25	0.20821	N	0.999842	B;B	0.28233	0.204;0.001	B;B	0.27170	0.077;0.0	T	0.43988	-0.9357	9	0.05833	T	0.94	.	6.5221	0.22281	0.6112:0.0:0.0:0.3888	.	531;530	G5E9N4;Q96SE7	.;ZN347_HUMAN	K	530;531	ENSP00000334146:N530K;ENSP00000405218:N531K	ENSP00000334146:N530K	N	-	3	2	ZNF347	58336303	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-7.953000	0.00027	0.354000	0.24105	0.533000	0.62120	AAT		0.403	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	broad.mit.edu	37	19	53645294	53645294	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53645294A>C	ENST00000334197.7	-	5	855	c.787T>G	c.(787-789)Tct>Gct	p.S263A	ZNF347_ENST00000452676.2_Missense_Mutation_p.S264A|ZNF347_ENST00000601469.2_Missense_Mutation_p.S264A|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S263A(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATCCATTAGATTTGTAAGGG	0.363																																					p.S263A	Melanoma(64;205 1597 17324 45721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T787G	19						.						127.0	126.0	126.0					19																	53645294		2203	4300	6503	58337106	SO:0001583	missense	84671	exon5			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.787T>G	19.37:g.53645294A>C	ENSP00000334146:p.Ser263Ala	Somatic		Capture	Illumina HiSeq	Phase_I	58337106	NM_032584	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	8.976	0.974168	0.18736	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.27720	1.65;1.65	2.32	-0.0249	0.13937	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	N	0.20685	0.6	0.09310	N	1	B;B	0.29531	0.247;0.016	B;B	0.27380	0.079;0.009	T	0.21075	-1.0256	9	0.87932	D	0	.	4.2884	0.10865	0.6736:0.2027:0.1237:0.0	.	264;263	G5E9N4;Q96SE7	.;ZN347_HUMAN	A	263;264	ENSP00000334146:S263A;ENSP00000405218:S264A	ENSP00000334146:S263A	S	-	1	0	ZNF347	58337106	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	0.448000	0.21726	-0.210000	0.10140	-0.256000	0.11100	TCT		0.363	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF665	79788	broad.mit.edu	37	19	53668209	53668209	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53668209T>G	ENST00000600412.1	-	2	1454	c.1339A>C	c.(1339-1341)Aaa>Caa	p.K447Q	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.K512Q			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	447					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)	p.K447Q(1)|p.K512Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGTAAGGTTTTTCTCCAGTA	0.373																																					p.K512Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1534C	19						.						122.0	129.0	127.0					19																	53668209		2203	4300	6503	58360021	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1339A>C	19.37:g.53668209T>G	ENSP00000469154:p.Lys447Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58360021	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.093929	0.76870	.	.	ENSG00000197497	ENST00000396424	T	0.27104	1.69	2.55	2.55	0.30701	.	.	.	.	.	T	0.46560	0.1399	M	0.78049	2.395	0.21445	N	0.99969	D	0.89917	1.0	D	0.87578	0.998	T	0.18555	-1.0333	9	0.66056	D	0.02	.	5.3737	0.16154	0.0:0.1419:0.0:0.8581	.	512	Q9H7R5-2	.	Q	512	ENSP00000379702:K512Q	ENSP00000379702:K512Q	K	-	1	0	ZNF665	58360021	0.005000	0.15991	0.050000	0.19076	0.833000	0.47200	1.592000	0.36676	1.165000	0.42670	0.443000	0.29094	AAA		0.373	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF665	79788	broad.mit.edu	37	19	53668645	53668645	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53668645T>G	ENST00000600412.1	-	2	1018	c.903A>C	c.(901-903)cgA>cgC	p.R301R	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.R366R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	301					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)	p.R301R(1)|p.R366R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CAGTATGAATTCGCCGATGCT	0.413																																					p.R366R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1098C	19						.						100.0	102.0	101.0					19																	53668645		2203	4300	6503	58360457	SO:0001819	synonymous_variant	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.903A>C	19.37:g.53668645T>G		Somatic		Capture	Illumina HiSeq	Phase_I	58360457	NM_024733	A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																					0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF665	79788	broad.mit.edu	37	19	53669234	53669234	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53669234G>T	ENST00000600412.1	-	2	429	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.S170Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	105					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)	p.S105Y(1)|p.S170Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTATTAGGAGACTTCTCAAC	0.368																																					p.S170Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C509A	19						.						121.0	130.0	127.0					19																	53669234		2142	4276	6418	58361046	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.314C>A	19.37:g.53669234G>T	ENSP00000469154:p.Ser105Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	58361046	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	11.19	1.564613	0.27915	.	.	ENSG00000197497	ENST00000396424	T	0.01025	5.43	1.84	-0.614	0.11590	.	.	.	.	.	T	0.02267	0.0070	M	0.75085	2.285	0.09310	N	1	D	0.56287	0.975	P	0.54140	0.743	T	0.42103	-0.9471	9	0.72032	D	0.01	.	1.7093	0.02888	0.1374:0.3923:0.2715:0.1989	.	170	Q9H7R5-2	.	Y	170	ENSP00000379702:S170Y	ENSP00000379702:S170Y	S	-	2	0	ZNF665	58361046	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.909000	0.28558	-0.070000	0.12908	-0.386000	0.06593	TCT		0.368	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF677	342926	broad.mit.edu	37	19	53740273	53740273	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53740273T>C	ENST00000598513.1	-	5	1857	c.1707A>G	c.(1705-1707)aaA>aaG	p.K569K	ZNF677_ENST00000333952.4_Silent_p.K569K	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	569					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)	p.K569K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATTTGATATGTTTTTCTCTAT	0.289																																					p.K569K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1707G	19						.						70.0	64.0	66.0					19																	53740273		2203	4300	6503	58432085	SO:0001819	synonymous_variant	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1707A>G	19.37:g.53740273T>C		Somatic		Capture	Illumina HiSeq	Phase_I	58432085	NM_182609		Silent	SNP	ENST00000598513.1	37	CCDS12861.1																																																																																				0.289	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
ZNF677	342926	broad.mit.edu	37	19	53740528	53740528	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53740528C>A	ENST00000598513.1	-	5	1602	c.1452G>T	c.(1450-1452)gaG>gaT	p.E484D	ZNF677_ENST00000333952.4_Missense_Mutation_p.E484D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	484					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)	p.E484D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTAAGGTTTCTCTCCAGTAT	0.358																																					p.E484D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1452T	19						.						70.0	69.0	70.0					19																	53740528		2203	4300	6503	58432340	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1452G>T	19.37:g.53740528C>A	ENSP00000469391:p.Glu484Asp	Somatic		Capture	Illumina HiSeq	Phase_I	58432340	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783034	0.49891	.	.	ENSG00000197928	ENST00000333952	T	0.26810	1.71	2.21	1.06	0.20224	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003049	T	0.23926	0.0579	L	0.37630	1.12	0.24677	N	0.993382	P	0.49185	0.92	P	0.50192	0.634	T	0.06499	-1.0823	10	0.72032	D	0.01	.	6.2797	0.21001	0.0:0.8126:0.0:0.1874	.	484	Q86XU0	ZN677_HUMAN	D	484	ENSP00000334394:E484D	ENSP00000334394:E484D	E	-	3	2	ZNF677	58432340	0.810000	0.29049	0.999000	0.59377	0.915000	0.54546	0.297000	0.19101	0.413000	0.25759	-0.345000	0.07892	GAG		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
VN1R2	317701	broad.mit.edu	37	19	53762001	53762001	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53762001G>T	ENST00000341702.3	+	1	457	c.373G>T	c.(373-375)Gat>Tat	p.D125Y		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	125					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.D125Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AAGATCCACAGATTTGATTCT	0.398																																					p.D125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373T	19						.						86.0	90.0	89.0					19																	53762001		2203	4300	6503	58453813	SO:0001583	missense	317701	exon1			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.373G>T	19.37:g.53762001G>T	ENSP00000351244:p.Asp125Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	58453813	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	9.179	1.023065	0.19433	.	.	ENSG00000196131	ENST00000341702	T	0.31510	1.49	2.94	0.734	0.18294	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.54838	0.1883	M	0.91663	3.23	0.09310	N	1	D	0.60575	0.988	D	0.63877	0.919	T	0.41197	-0.9522	9	0.87932	D	0	.	5.3739	0.16154	0.3897:0.0:0.6103:0.0	.	125	Q8NFZ6	VN1R2_HUMAN	Y	125	ENSP00000351244:D125Y	ENSP00000351244:D125Y	D	+	1	0	VN1R2	58453813	0.016000	0.18221	0.014000	0.15608	0.469000	0.32828	0.536000	0.23129	0.305000	0.22832	0.596000	0.82720	GAT		0.398	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
VN1R4	317703	broad.mit.edu	37	19	53770687	53770687	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53770687G>T	ENST00000311170.4	-	1	285	c.232C>A	c.(232-234)Ctt>Att	p.L78I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	78					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L78I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TTGCACCCAAGAGCATTGAGA	0.493										HNSCC(26;0.072)																											p.L78I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232A	19						.						38.0	37.0	38.0					19																	53770687		2203	4300	6503	58462499	SO:0001583	missense	317703	exon1			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.232C>A	19.37:g.53770687G>T	ENSP00000310856:p.Leu78Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58462499	NM_173857	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.560032	0.00910	.	.	ENSG00000228567	ENST00000311170	T	0.08008	3.14	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	0.727511	0.11295	N	0.578816	T	0.02083	0.0065	N	0.03029	-0.43	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26780	-1.0093	10	0.07813	T	0.8	.	0.6798	0.00873	0.2015:0.3103:0.2432:0.2451	.	78	Q7Z5H5	VN1R4_HUMAN	I	78	ENSP00000310856:L78I	ENSP00000310856:L78I	L	-	1	0	VN1R4	58462499	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-7.898000	0.00028	-3.921000	0.00091	-0.511000	0.04467	CTT		0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
BIRC8	112401	broad.mit.edu	37	19	53793183	53793183	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53793183G>T	ENST00000426466.1	-	1	1692	c.445C>A	c.(445-447)Ctt>Att	p.L149I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	149					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.L149I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTGCAACAAGAACCTCAAGC	0.408																																					p.L149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445A	19						.						115.0	117.0	117.0					19																	53793183		2203	4300	6503	58484995	SO:0001583	missense	112401	exon1			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.445C>A	19.37:g.53793183G>T	ENSP00000412957:p.Leu149Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58484995	NM_033341	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	G	9.244	1.038960	0.19669	.	.	ENSG00000163098	ENST00000426466	T	0.41065	1.01	0.502	0.502	0.16932	.	.	.	.	.	T	0.51686	0.1689	M	0.66506	2.035	0.24093	N	0.995907	D	0.71674	0.998	D	0.63877	0.919	T	0.34179	-0.9839	9	0.45353	T	0.12	-3.9001	3.6066	0.08045	0.0:1.0E-4:0.5617:0.4382	.	149	Q96P09	BIRC8_HUMAN	I	149	ENSP00000412957:L149I	ENSP00000412957:L149I	L	-	1	0	BIRC8	58484995	0.069000	0.21087	0.030000	0.17652	0.015000	0.08874	1.005000	0.29834	0.578000	0.29487	0.420000	0.28162	CTT		0.408	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
RANBP3	8498	broad.mit.edu	37	19	5923291	5923291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:5923291C>T	ENST00000340578.6	-	13	1180	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	RANBP3_ENST00000439268.2_Missense_Mutation_p.A370T|RANBP3_ENST00000034275.8_Missense_Mutation_p.A307T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A247T|RANBP3_ENST00000591092.1_Missense_Mutation_p.A302T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	375					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)	p.A375T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TTGGTGTAGGCGGCTGCCGAC	0.552																																					p.A370T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108A	19						.						81.0	87.0	85.0					19																	5923291		1968	4156	6124	5874291	SO:0001583	missense	8498	exon13			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1123G>A	19.37:g.5923291C>T	ENSP00000341483:p.Ala375Thr	Somatic		Capture	Illumina HiSeq	Phase_I	5874291	NM_003624	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853155	0.91355	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.36878	1.24;1.23;1.98;1.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.971;0.984;0.991;0.995;0.983;0.971	P;P;P;P;P;P;P	0.60068	0.868;0.526;0.603;0.691;0.837;0.718;0.526	T	0.54430	-0.8295	10	0.21540	T	0.41	-22.708	17.0862	0.86611	0.0:1.0:0.0:0.0	.	247;370;247;302;307;370;375	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	T	375;370;307;306;247	ENSP00000341483:A375T;ENSP00000404837:A370T;ENSP00000034275:A307T;ENSP00000445071:A247T	ENSP00000034275:A307T	A	-	1	0	RANBP3	5874291	1.000000	0.71417	0.974000	0.42286	0.928000	0.56348	7.395000	0.79876	2.640000	0.89533	0.462000	0.41574	GCC		0.552	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322	
ZNF761	388561	broad.mit.edu	37	19	53959218	53959218	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53959218G>T	ENST00000454407.1	+	0	1910							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R432I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGACATAGGAGAATTCATACT	0.413																																					p.E486D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1458T	19						.						74.0	78.0	77.0					19																	53959218		2203	4300	6503	58651030			388561	exon6			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959218G>T		Somatic		Capture	Illumina HiSeq	Phase_I	58651030	NM_001008401	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
ZNF331	55422	broad.mit.edu	37	19	54080850	54080850	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54080850G>A	ENST00000253144.9	+	7	2369	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	ZNF331_ENST00000511593.2_Missense_Mutation_p.E346K|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511154.1_Missense_Mutation_p.E346K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E346K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E346K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E346K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E346K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E346K(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CGTTAAGCACGAGAGGATACA	0.527			T	?	follicular thyroid adenoma																																p.E346K			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	19						.						105.0	91.0	96.0					19																	54080850		2203	4300	6503	58772662	SO:0001583	missense	55422	exon6			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1036G>A	19.37:g.54080850G>A	ENSP00000253144:p.Glu346Lys	Somatic		Capture	Illumina HiSeq	Phase_I	58772662	NM_001079906	Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400246	0.25291	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.08	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.227431	0.22434	N	0.060102	T	0.16385	0.0394	N	0.02658	-0.545	0.09310	N	1	P	0.40144	0.704	B	0.32677	0.15	T	0.10245	-1.0638	10	0.46703	T	0.11	.	5.837	0.18613	0.1086:0.3851:0.5063:0.0	.	346	Q9NQX6	ZN331_HUMAN	K	346	ENSP00000253144:E346K;ENSP00000427439:E346K;ENSP00000393817:E346K;ENSP00000393336:E346K;ENSP00000421014:E346K;ENSP00000423156:E346K;ENSP00000421728:E346K	ENSP00000253144:E346K	E	+	1	0	ZNF331	58772662	0.000000	0.05858	0.955000	0.39395	0.421000	0.31385	-0.258000	0.08733	1.023000	0.39654	0.655000	0.94253	GAG		0.527	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	
ZNF331	55422	broad.mit.edu	37	19	54081002	54081002	+	Silent	SNP	G	G	A	rs199753274		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54081002G>A	ENST00000253144.9	+	7	2521	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	ZNF331_ENST00000511593.2_Silent_p.S396S|ZNF331_ENST00000511154.1_Silent_p.S396S|ZNF331_ENST00000449416.1_Silent_p.S396S|ZNF331_ENST00000411977.2_Silent_p.S396S|ZNF331_ENST00000513999.1_Silent_p.S396S|ZNF331_ENST00000512387.1_Silent_p.S396S	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S396S(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTTATGGATCGAGCCTCGTGA	0.478			T	?	follicular thyroid adenoma																																p.S396S			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1188A	19						.						66.0	65.0	65.0					19																	54081002		2203	4300	6503	58772814	SO:0001819	synonymous_variant	55422	exon6			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1188G>A	19.37:g.54081002G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58772814	NM_001079906	Q96GJ4	Silent	SNP	ENST00000253144.9	37	CCDS33102.1																																																																																				0.478	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	
NLRP12	91662	broad.mit.edu	37	19	54313265	54313265	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54313265A>G	ENST00000324134.6	-	3	1816	c.1648T>C	c.(1648-1650)Ttt>Ctt	p.F550L	NLRP12_ENST00000345770.5_Missense_Mutation_p.F550L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F550L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F550L|NLRP12_ENST00000354278.3_Missense_Mutation_p.F550L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F550L|NLRP12_ENST00000535162.1_Missense_Mutation_p.F550L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F550L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	550					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.F550L(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTTCAGAAAACGCGTACTCG	0.572																																					p.F550L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1648C	19						.						94.0	88.0	90.0					19																	54313265		2203	4300	6503	59005077	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1648T>C	19.37:g.54313265A>G	ENSP00000319377:p.Phe550Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59005077	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	0.055	-1.239880	0.01493	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.21	1.64	0.23874	.	0.684951	0.12058	N	0.503390	T	0.68760	0.3036	L	0.39397	1.21	0.09310	N	0.999999	P;B;B;B	0.35328	0.495;0.255;0.255;0.017	B;B;B;B	0.29598	0.104;0.104;0.104;0.009	T	0.52997	-0.8500	10	0.11485	T	0.65	.	6.3994	0.21630	0.5037:0.0:0.0:0.4963	.	550;550;550;550	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	550	ENSP00000319377:F550L;ENSP00000438030:F550L;ENSP00000340473:F550L;ENSP00000346231:F550L;ENSP00000375655:F550L;ENSP00000375653:F550L;ENSP00000375652:F550L	ENSP00000319377:F550L	F	-	1	0	NLRP12	59005077	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.136000	0.15974	0.560000	0.29169	0.397000	0.26171	TTT		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54314476C>T	ENST00000324134.6	-	3	605	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NLRP12_ENST00000345770.5_Missense_Mutation_p.R146H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R146L(1)|p.R146H(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567																																					p.R146H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G437A	19						.						91.0	88.0	89.0					19																	54314476		2203	4300	6503	59006288	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.437G>A	19.37:g.54314476C>T	ENSP00000319377:p.Arg146His	Somatic		Capture	Illumina HiSeq	Phase_I	59006288	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314812	0.40996	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.47	4.47	0.54385	.	0.000000	0.42294	D	0.000728	D	0.92831	0.7720	M	0.78801	2.425	0.26209	N	0.979335	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.85993	0.1490	10	0.33940	T	0.23	.	11.0466	0.47863	0.0:0.8111:0.1889:0.0	.	146;146;146;146	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	146	ENSP00000319377:R146H;ENSP00000438030:R146H;ENSP00000340473:R146H;ENSP00000346231:R146H;ENSP00000375655:R146H;ENSP00000375653:R146H;ENSP00000375652:R146H	ENSP00000319377:R146H	R	-	2	0	NLRP12	59006288	0.005000	0.15991	0.678000	0.29963	0.982000	0.71751	1.658000	0.37376	2.228000	0.72767	0.306000	0.20318	CGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PRKCG	5582	broad.mit.edu	37	19	54401733	54401733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54401733G>A	ENST00000263431.3	+	11	1414	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	PRKCG_ENST00000540413.1_Missense_Mutation_p.A378T|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000542049.1_Missense_Mutation_p.A265T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.A378T(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TGAGCTCTACGCCATCAAGAT	0.607																																					p.A378T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A	19						.						62.0	56.0	58.0					19																	54401733		2203	4300	6503	59093545	SO:0001583	missense	5582	exon11			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1132G>A	19.37:g.54401733G>A	ENSP00000263431:p.Ala378Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59093545	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	36	5.773629	0.96922	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.60171	0.21;0.21;0.21	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84964	0.5589	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.996;0.985;0.996	D	0.90551	0.4509	9	0.87932	D	0	.	16.3254	0.82978	0.0:0.0:1.0:0.0	.	265;378;378	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	T	378;378;265	ENSP00000443493:A378T;ENSP00000263431:A378T;ENSP00000438090:A265T	ENSP00000263431:A378T	A	+	1	0	PRKCG	59093545	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.687000	0.98667	2.528000	0.85240	0.561000	0.74099	GCC		0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
VSTM1	284415	broad.mit.edu	37	19	54561648	54561648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54561648C>A	ENST00000338372.2	-	3	442	c.267G>T	c.(265-267)aaG>aaT	p.K89N	VSTM1_ENST00000376626.1_Missense_Mutation_p.K89N|VSTM1_ENST00000425006.2_Missense_Mutation_p.K89N|VSTM1_ENST00000366170.2_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	89	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.K89N(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCCCAGCATCCTTAGGCTTCA	0.527																																					p.K89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G267T	19						.						133.0	114.0	121.0					19																	54561648		2203	4300	6503	59253460	SO:0001583	missense	284415	exon3			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.267G>T	19.37:g.54561648C>A	ENSP00000343366:p.Lys89Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59253460	NM_198481	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.439	0.266070	0.10294	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000425006	T;T;T;T	0.00700	5.82;5.82;5.82;5.82	3.67	0.259	0.15583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.329580	0.05796	N	0.611318	T	0.00695	0.0023	N	0.25286	0.73	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.18871	0.023;0.023	T	0.47548	-0.9109	10	0.21014	T	0.42	-7.8161	5.7295	0.18032	0.0:0.6301:0.0:0.3699	.	89;89	D2DJS4;Q6UX27	.;VSTM1_HUMAN	N	10;89;89;89	ENSP00000409412:K10N;ENSP00000343366:K89N;ENSP00000365813:K89N;ENSP00000413006:K89N	ENSP00000343366:K89N	K	-	3	2	VSTM1	59253460	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.101000	0.10973	0.040000	0.15660	0.591000	0.81541	AAG		0.527	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	
MBOAT7	79143	broad.mit.edu	37	19	54678069	54678069	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54678069T>C	ENST00000245615.1	-	8	1568	c.1088A>G	c.(1087-1089)tAc>tGc	p.Y363C	TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.Y290C|TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000301187.4_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.Y290C	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	363					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)	p.Y363C(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGCTCAGGTAGTAGCCCGG	0.706																																					p.Y290C	NSCLC(97;826 2151 10470 22540)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A869G	19						.						40.0	44.0	43.0					19																	54678069		2200	4300	6500	59369881	SO:0001583	missense	79143	exon6			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1088A>G	19.37:g.54678069T>C	ENSP00000245615:p.Tyr363Cys	Somatic		Capture	Illumina HiSeq	Phase_I	59369881	NM_001146056	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	t	23.4	4.409972	0.83340	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.74421	-0.84;-0.84;-0.84	4.54	4.54	0.55810	.	0.130635	0.53938	D	0.000057	D	0.86184	0.5872	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88332	0.2969	10	0.87932	D	0	-18.217	13.148	0.59474	0.0:0.0:0.0:1.0	.	345;290;363	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	C	290;290;363	ENSP00000410503:Y290C;ENSP00000344377:Y290C;ENSP00000245615:Y363C	ENSP00000245615:Y363C	Y	-	2	0	MBOAT7	59369881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.043000	0.76572	1.815000	0.52974	0.454000	0.30748	TAC		0.706	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298	
LILRB5	10990	broad.mit.edu	37	19	54760357	54760357	+	Missense_Mutation	SNP	G	G	A	rs201274171	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54760357G>A	ENST00000316219.5	-	3	457	c.350C>T	c.(349-351)gCg>gTg	p.A117V	LILRB5_ENST00000345866.6_Missense_Mutation_p.A117V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A117V|LILRB5_ENST00000450632.1_Missense_Mutation_p.A117V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	117	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A117V(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCACCTGTCGCCACCAGCTC	0.637													.|||	5	0.000998403	0.0	0.0	5008	,	,		15249	0.005		0.0	False		,,,				2504	0.0				p.A117V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C350T	19						.	G	VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	70.0	73.0	72.0		350,350,350	2.3	1.0	19		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	64,64,64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign,benign,benign	117/592,117/492,117/591	54760357	3,13003	2203	4300	6503	59452169	SO:0001583	missense	10990	exon3			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.350C>T	19.37:g.54760357G>A	ENSP00000320390:p.Ala117Val	Somatic		Capture	Illumina HiSeq	Phase_I	59452169	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.008	-1.912117	0.00508	4.54E-4	1.16E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	3.29	2.26	0.28386	Immunoglobulin-like fold (1);	0.284575	0.24833	N	0.035231	T	0.00754	0.0025	N	0.00019	-2.8	0.20703	N	0.999868	B;B;B;B;B	0.25235	0.004;0.121;0.005;0.005;0.002	B;B;B;B;B	0.15870	0.003;0.014;0.002;0.0;0.003	T	0.42258	-0.9462	10	0.02654	T	1	.	5.5078	0.16864	0.8642:0.0:0.1358:0.0	.	117;108;117;117;117	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	117	ENSP00000320390:A117V;ENSP00000414225:A117V;ENSP00000406478:A117V;ENSP00000263430:A117V	ENSP00000320390:A117V	A	-	2	0	LILRB5	59452169	0.441000	0.25626	0.953000	0.39169	0.029000	0.11900	1.138000	0.31491	0.452000	0.26830	-0.385000	0.06624	GCG		0.637	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
LILRA5	353514	broad.mit.edu	37	19	54822754	54822754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54822754G>T	ENST00000301219.3	-	5	761	c.642C>A	c.(640-642)tgC>tgA	p.C214*	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Nonsense_Mutation_p.C202*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.C214*|LILRA5_ENST00000346508.3_Nonsense_Mutation_p.C202*	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	214	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.C214*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGAGCCATAGCATCTGAGCA	0.587																																					p.C202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C606A	19						.						73.0	72.0	72.0					19																	54822754		2203	4300	6503	59514566	SO:0001587	stop_gained	353514	exon4			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.642C>A	19.37:g.54822754G>T	ENSP00000301219:p.Cys214*	Somatic		Capture	Illumina HiSeq	Phase_I	59514566	NM_181986	A6NHI3	Nonsense_Mutation	SNP	ENST00000301219.3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962792	0.92791	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	.	.	.	2.61	1.54	0.23209	.	0.000000	0.39146	U	0.001452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1413	0.14961	0.1771:0.0:0.8229:0.0	.	.	.	.	X	214;202;202;214	.	ENSP00000301219:C214X	C	-	3	2	LILRA5	59514566	0.288000	0.24324	0.732000	0.30844	0.742000	0.42306	1.434000	0.34958	0.431000	0.26258	0.205000	0.17691	TGC		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
LAIR1	3903	broad.mit.edu	37	19	54866910	54866910	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54866910C>A	ENST00000391742.2	-	10	983	c.831G>T	c.(829-831)gaG>gaT	p.E277D	LAIR1_ENST00000313038.6_Missense_Mutation_p.E270D|LAIR1_ENST00000434277.2_Missense_Mutation_p.E276D|LAIR1_ENST00000348231.4_Missense_Mutation_p.E260D|LAIR1_ENST00000474878.1_Missense_Mutation_p.E259D|CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000391743.3_Missense_Mutation_p.E259D|LAIR1_ENST00000463489.1_5'Flank			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	277					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E277D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACGTGATGGACTCGGCCATGG	0.602																																					p.E260D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G780T	19						.						136.0	128.0	131.0					19																	54866910		2203	4300	6503	59558722	SO:0001583	missense	3903	exon9			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.831G>T	19.37:g.54866910C>A	ENSP00000375622:p.Glu277Asp	Somatic		Capture	Illumina HiSeq	Phase_I	59558722	NM_021706		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.39	2.222605	0.39300	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00523	6.83;6.94;6.95;6.92;6.89;6.9	4.04	0.295	0.15752	.	0.335277	0.21764	N	0.069471	T	0.00666	0.0022	L	0.37561	1.115	0.09310	N	1	D;D;D;B;D	0.69078	0.996;0.997;0.989;0.356;0.996	P;D;P;B;P	0.69654	0.836;0.965;0.825;0.18;0.836	T	0.55425	-0.8143	10	0.46703	T	0.11	.	3.284	0.06925	0.199:0.5575:0.0:0.2435	.	259;259;276;260;277	A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;LAIR1_HUMAN	D	259;277;276;260;270;259	ENSP00000375623:E259D;ENSP00000375622:E277D;ENSP00000391003:E276D;ENSP00000301193:E260D;ENSP00000319204:E270D;ENSP00000418998:E259D	ENSP00000319204:E270D	E	-	3	2	LAIR1	59558722	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.504000	0.06375	0.160000	0.19432	0.561000	0.74099	GAG		0.602	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		
LENG8	114823	broad.mit.edu	37	19	54969338	54969338	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54969338G>T	ENST00000326764.5	+	14	2438	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	616								p.E653D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTACGCCGAGAACTTGCCTG	0.582																																					p.E653D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1959T	19						.						103.0	96.0	98.0					19																	54969338		2203	4300	6503	59661150	SO:0001583	missense	114823	exon14			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1959G>T	19.37:g.54969338G>T	ENSP00000318374:p.Glu653Asp	Somatic		Capture	Illumina HiSeq	Phase_I	59661150	NM_052925	B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112777	0.20795	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.27890	1.64;1.64;1.64	5.16	2.98	0.34508	.	0.062033	0.64402	D	0.000006	T	0.18718	0.0449	N	0.17474	0.49	0.80722	D	1	B;B	0.32128	0.357;0.041	B;B	0.35510	0.204;0.078	T	0.05632	-1.0873	10	0.23302	T	0.38	-43.6849	10.3073	0.43689	0.1665:0.0:0.8335:0.0	.	653;616	Q96PV6-2;F8W9Q9	.;.	D	653;616;616;653	ENSP00000318374:E653D;ENSP00000365709:E616D;ENSP00000388053:E653D	ENSP00000301196:E616D	E	+	3	2	LENG8	59661150	1.000000	0.71417	0.987000	0.45799	0.161000	0.22273	1.854000	0.39368	0.670000	0.31165	-0.258000	0.10820	GAG		0.582	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
LAIR2	3904	broad.mit.edu	37	19	55019243	55019243	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55019243G>T	ENST00000301202.2	+	3	330	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	LAIR2_ENST00000351841.2_Missense_Mutation_p.D70Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	70	Ig-like C2-type.					extracellular region (GO:0005576)		p.D70Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAGTACAAAGATAGTTATAA	0.517																																					p.D70Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G208T	19						.						110.0	102.0	105.0					19																	55019243		2203	4300	6503	59711055	SO:0001583	missense	3904	exon3			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.208G>T	19.37:g.55019243G>T	ENSP00000301202:p.Asp70Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	59711055	NM_002288	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611055	0.28712	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.21543	2.0;2.68;2.68	3.32	-0.964	0.10326	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.577066	0.14496	N	0.316026	T	0.37865	0.1019	M	0.80422	2.495	0.09310	N	1	P;D;D	0.89917	0.956;1.0;0.985	P;D;P	0.91635	0.833;0.999;0.848	T	0.16867	-1.0388	10	0.41790	T	0.15	.	2.4731	0.04569	0.3431:0.0:0.4346:0.2223	.	64;70;70	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	Y	64;52;70;70	ENSP00000390729:D64Y;ENSP00000301202:D70Y;ENSP00000301203:D70Y	ENSP00000301202:D70Y	D	+	1	0	LAIR2	59711055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.002000	0.12924	-0.220000	0.09988	-0.379000	0.06801	GAT		0.517	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1		
LILRA1	11024	broad.mit.edu	37	19	55106178	55106178	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55106178C>T	ENST00000251372.3	+	4	301	c.119C>T	c.(118-120)aCc>aTc	p.T40I	LILRA1_ENST00000453777.1_Missense_Mutation_p.T40I|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	40	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.T40I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTGTGATCACCCAGGGGAGT	0.542																																					p.T40I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	19						.						73.0	76.0	75.0					19																	55106178		2203	4300	6503	59797990	SO:0001583	missense	11024	exon4			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.119C>T	19.37:g.55106178C>T	ENSP00000251372:p.Thr40Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59797990	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	1.777	-0.482831	0.04383	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.14391	2.51;2.51	1.58	-0.807	0.10872	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.350130	0.01691	N	0.026642	T	0.14227	0.0344	L	0.56396	1.775	0.09310	N	1	B;B	0.28208	0.203;0.006	B;B	0.24269	0.052;0.011	T	0.21484	-1.0244	10	0.40728	T	0.16	.	3.3823	0.07259	0.0:0.5554:0.2642:0.1805	.	40;40	O75019-2;O75019	.;LIRA1_HUMAN	I	40	ENSP00000251372:T40I;ENSP00000413715:T40I	ENSP00000251372:T40I	T	+	2	0	LILRA1	59797990	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.231000	0.17872	-0.147000	0.11254	-2.888000	0.00096	ACC		0.542	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
LILRA1	11024	broad.mit.edu	37	19	55106797	55106797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55106797C>A	ENST00000251372.3	+	5	773	c.591C>A	c.(589-591)tgC>tgA	p.C197*	LILRA1_ENST00000453777.1_Nonsense_Mutation_p.C197*|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	197	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.C197*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGTACAGGTGCTATGCTTATG	0.582																																					p.C197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C591A	19						.						165.0	169.0	168.0					19																	55106797		2203	4300	6503	59798609	SO:0001587	stop_gained	11024	exon5			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.591C>A	19.37:g.55106797C>A	ENSP00000251372:p.Cys197*	Somatic		Capture	Illumina HiSeq	Phase_I	59798609	NM_006863	O75018|Q3MJA6	Nonsense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665467	0.67700	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	.	.	.	2.24	0.774	0.18521	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2096	0.10505	0.0:0.6407:0.0:0.3593	.	.	.	.	X	197	.	ENSP00000251372:C197X	C	+	3	2	LILRA1	59798609	0.244000	0.23889	0.024000	0.17045	0.024000	0.10985	0.456000	0.21859	0.027000	0.15297	0.194000	0.17425	TGC		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
LILRA1	11024	broad.mit.edu	37	19	55107203	55107203	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55107203G>A	ENST00000251372.3	+	6	943	c.761G>A	c.(760-762)aGa>aAa	p.R254K	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	254	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.R254K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCTACGACAGATTTGTTCTG	0.582																																					p.R254K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761A	19						.						144.0	139.0	141.0					19																	55107203		2203	4300	6503	59799015	SO:0001583	missense	11024	exon6			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.761G>A	19.37:g.55107203G>A	ENSP00000251372:p.Arg254Lys	Somatic		Capture	Illumina HiSeq	Phase_I	59799015	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965483	0.18583	.	.	ENSG00000104974	ENST00000251372	T	0.11277	2.79	1.58	0.477	0.16784	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.598376	0.14133	N	0.339267	T	0.11067	0.0270	L	0.49455	1.56	0.09310	N	1	P	0.35872	0.525	B	0.41202	0.35	T	0.22034	-1.0228	10	0.56958	D	0.05	.	3.4732	0.07575	0.2868:0.0:0.7132:0.0	.	254	O75019	LIRA1_HUMAN	K	254	ENSP00000251372:R254K	ENSP00000251372:R254K	R	+	2	0	LILRA1	59799015	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.082000	0.11304	0.201000	0.20466	0.194000	0.17425	AGA		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
LILRB1	10859	broad.mit.edu	37	19	55148255	55148255	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55148255A>G	ENST00000396331.1	+	16	2236	c.1879A>G	c.(1879-1881)Act>Gct	p.T627A	AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T627A|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.T629A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.T678A|LILRB1_ENST00000396332.4_Missense_Mutation_p.T628A|LILRB1_ENST00000434867.2_Missense_Mutation_p.T627A|LILRB1_ENST00000396315.1_Missense_Mutation_p.T629A|LILRB1_ENST00000396317.1_Missense_Mutation_p.T611A|LILRB1_ENST00000418536.2_Missense_Mutation_p.T611A|LILRB1_ENST00000396327.3_Missense_Mutation_p.T628A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	627					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.T627A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACGGGAGGCAACTGAGCCTCC	0.657										HNSCC(37;0.09)																											p.T627A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1879G	19						.						101.0	87.0	92.0					19																	55148255		2203	4300	6503	59840067	SO:0001583	missense	10859	exon16			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1879A>G	19.37:g.55148255A>G	ENSP00000379622:p.Thr627Ala	Somatic		Capture	Illumina HiSeq	Phase_I	59840067	NM_006669	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	5.932	0.355980	0.11239	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00487	7.11;7.07;7.11;7.08;7.07;7.11;7.11;7.05;7.07;7.07	2.1	-0.768	0.11013	.	.	.	.	.	T	0.00328	0.0010	L	0.38733	1.17	0.09310	N	1	B;P;B;P;B	0.48998	0.061;0.918;0.005;0.532;0.234	B;B;B;B;B	0.43950	0.091;0.437;0.021;0.325;0.101	T	0.47509	-0.9112	9	0.21540	T	0.41	.	4.8226	0.13398	0.4984:0.0:0.5016:0.0	.	611;629;628;628;627	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	A	627;611;627;628;629;627;628;678;611;629	ENSP00000379614:T627A;ENSP00000391514:T611A;ENSP00000379622:T627A;ENSP00000379618:T628A;ENSP00000315997:T629A;ENSP00000405243:T627A;ENSP00000379623:T628A;ENSP00000395004:T678A;ENSP00000379610:T611A;ENSP00000379608:T629A	ENSP00000315997:T629A	T	+	1	0	LILRB1	59840067	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.987000	0.03743	-0.177000	0.10690	0.163000	0.16589	ACT		0.657	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
LILRB4	11006	broad.mit.edu	37	19	55174510	55174510	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55174510C>T	ENST00000391736.1	+	3	340	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	LILRB4_ENST00000391733.3_Missense_Mutation_p.L9F|LILRB4_ENST00000270452.2_Missense_Mutation_p.L9F|LILRB4_ENST00000391734.3_Missense_Mutation_p.L9F|LILRB4_ENST00000430952.2_Missense_Mutation_p.L9F	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	9					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.L9F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CACGGCTCTGCTCTGCCTCGG	0.577											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L9F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C25T	19						.						50.0	53.0	52.0					19																	55174510		2203	4300	6503	59866322	SO:0001583	missense	11006	exon1			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.25C>T	19.37:g.55174510C>T	ENSP00000375616:p.Leu9Phe	Somatic	1005	Capture	Illumina HiSeq	Phase_I	59866322	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781715	0.16120	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00591	6.62;6.62;6.62;6.55;6.64;6.35	2.87	1.78	0.24846	.	.	.	.	.	T	0.01092	0.0036	M	0.73430	2.235	0.09310	N	0.999994	B;B;B;B;B;B	0.34255	0.272;0.134;0.211;0.045;0.027;0.445	B;B;B;B;B;B	0.39531	0.12;0.078;0.189;0.162;0.049;0.302	T	0.36744	-0.9735	9	0.52906	T	0.07	.	8.8022	0.34916	0.0:0.8609:0.0:0.1391	.	9;9;9;9;9;50	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	F	50;9;9;9;9;9;9	ENSP00000375616:L9F;ENSP00000270452:L9F;ENSP00000408995:L9F;ENSP00000375614:L9F;ENSP00000375613:L9F;ENSP00000401962:L9F	ENSP00000270452:L9F	L	+	1	0	LILRB4	59866322	0.221000	0.23642	0.009000	0.14445	0.001000	0.01503	1.137000	0.31479	-0.053000	0.13289	-1.478000	0.00992	CTC		0.577	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
LILRB4	11006	broad.mit.edu	37	19	55177697	55177697	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55177697G>A	ENST00000391736.1	+	10	1196	c.881G>A	c.(880-882)aGa>aAa	p.R294K	LILRB4_ENST00000391733.3_Missense_Mutation_p.R294K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R294K|LILRB4_ENST00000391734.3_Missense_Mutation_p.R294K|LILRB4_ENST00000430952.2_Missense_Mutation_p.R294K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	294					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R294K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAGCCCAGAGACAGGCTGAT	0.562																																					p.R294K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881A	19						.						64.0	61.0	62.0					19																	55177697		2203	4300	6503	59869509	SO:0001583	missense	11006	exon8			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.881G>A	19.37:g.55177697G>A	ENSP00000375616:p.Arg294Lys	Somatic		Capture	Illumina HiSeq	Phase_I	59869509	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	2.872	-0.233673	0.05983	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00478	7.13;7.13;7.13;7.19;7.15;7.18	1.77	0.622	0.17648	.	.	.	.	.	T	0.00356	0.0011	L	0.31578	0.945	0.09310	N	1	B;P;P;P;B	0.41041	0.336;0.642;0.736;0.58;0.452	B;B;B;B;B	0.44085	0.087;0.162;0.44;0.139;0.096	T	0.48151	-0.9060	9	0.23302	T	0.38	.	5.8309	0.18581	0.0:0.3387:0.6613:0.0	.	294;293;294;294;294	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	K	294;294;294;294;294;293	ENSP00000375616:R294K;ENSP00000270452:R294K;ENSP00000408995:R294K;ENSP00000375614:R294K;ENSP00000375613:R294K;ENSP00000401962:R293K	ENSP00000270452:R294K	R	+	2	0	LILRB4	59869509	0.002000	0.14202	0.003000	0.11579	0.229000	0.25112	0.304000	0.19228	0.268000	0.21939	0.407000	0.27541	AGA		0.562	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
KIR3DL1	3811	broad.mit.edu	37	19	55316285	55316285	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55316285C>T	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Silent_p.S38S|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000357494.4_Silent_p.S38S|KIR2DL4_ENST00000396284.2_Silent_p.S36S|KIR2DL4_ENST00000345540.5_Silent_p.S38S|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.S38S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTGGCCCAGCGCTGTGGTGC	0.587																																					p.S38S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C114T	19						.						49.0	46.0	47.0					19																	55316285		2126	3799	5925	60008097	SO:0001627	intron_variant	3805	exon3			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-12704C>T	19.37:g.55316285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60008097	NM_002255	O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																					0.587	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
FCAR	2204	broad.mit.edu	37	19	55396744	55396744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55396744C>A	ENST00000355524.3	+	3	178	c.168C>A	c.(166-168)taC>taA	p.Y56*	FCAR_ENST00000391725.3_Nonsense_Mutation_p.Y56*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.Y44*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.Y44*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.Y56*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.Y56*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Nonsense_Mutation_p.Y44*|FCAR_ENST00000391724.3_Nonsense_Mutation_p.Y44*|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	56	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y56*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGAAGCTTACCTGACCCAGC	0.473																																					p.Y56X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C168A	19						.						112.0	103.0	106.0					19																	55396744		2203	4300	6503	60088556	SO:0001587	stop_gained	2204	exon3			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.168C>A	19.37:g.55396744C>A	ENSP00000347714:p.Tyr56*	Somatic		Capture	Illumina HiSeq	Phase_I	60088556	NM_002000	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Nonsense_Mutation	SNP	ENST00000355524.3	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611747	0.28712	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	.	.	.	3.19	-0.544	0.11847	.	0.624679	0.12186	N	0.491637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	10.7326	0.46107	0.0:0.407:0.593:0.0	.	.	.	.	X	56;44;56;56;56;44;44;44	.	ENSP00000338257:Y56X	Y	+	3	2	FCAR	60088556	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.680000	0.01939	0.001000	0.14605	0.563000	0.77884	TAC		0.473	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000	
NLRP7	199713	broad.mit.edu	37	19	55449436	55449436	+	Missense_Mutation	SNP	C	C	A	rs139797510	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55449436C>A	ENST00000590030.1	-	4	2145	c.2105G>T	c.(2104-2106)aGc>aTc	p.S702I	NLRP7_ENST00000592784.1_Missense_Mutation_p.S702I|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702I|NLRP7_ENST00000340844.2_Missense_Mutation_p.S702I|NLRP7_ENST00000446217.1_Missense_Mutation_p.S730I|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674I|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding (GO:0005524)	p.S674I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATGACAGGTGCTACGGGTTAC	0.433																																					p.S674I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2021T	19						.						241.0	250.0	247.0					19																	55449436		2203	4300	6503	60141248	SO:0001583	missense	199713	exon5			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2105G>T	19.37:g.55449436C>A	ENSP00000465520:p.Ser702Ile	Somatic		Capture	Illumina HiSeq	Phase_I	60141248	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335975	0.05278	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.52295	0.67;0.67;0.67	2.19	-4.38	0.03622	.	1.961300	0.03163	N	0.169586	T	0.33265	0.0857	L	0.40543	1.245	0.09310	N	1	B;B;B;P	0.35944	0.262;0.262;0.394;0.529	B;B;B;B	0.33454	0.055;0.115;0.115;0.164	T	0.13388	-1.0511	10	0.72032	D	0.01	.	1.2924	0.02062	0.1536:0.2812:0.3174:0.2479	.	730;702;702;674	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	I	702;674;702;730;469	ENSP00000409137:S674I;ENSP00000339491:S702I;ENSP00000414273:S730I	ENSP00000329568:S702I	S	-	2	0	NLRP7	60141248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.406000	0.00482	-2.461000	0.00536	-1.334000	0.01262	AGC		0.433	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP7	199713	broad.mit.edu	37	19	55449565	55449565	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55449565C>T	ENST00000590030.1	-	4	2016	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	NLRP7_ENST00000592784.1_Missense_Mutation_p.R659H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R659H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R659H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R687H|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	659							ATP binding (GO:0005524)	p.R659H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGAAGAGAGCGAAGATCCTG	0.502																																					p.R659H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1976A	19						.						103.0	99.0	100.0					19																	55449565		2203	4300	6503	60141377	SO:0001583	missense	199713	exon5			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1976G>A	19.37:g.55449565C>T	ENSP00000465520:p.Arg659His	Somatic		Capture	Illumina HiSeq	Phase_I	60141377	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981585	0.02197	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.54071	0.59;0.59	2.09	-4.17	0.03857	.	.	.	.	.	T	0.26448	0.0646	N	0.12569	0.235	0.09310	N	1	B;B;B	0.16396	0.003;0.017;0.017	B;B;B	0.04013	0.001;0.001;0.001	T	0.22103	-1.0226	9	0.14252	T	0.57	.	7.7707	0.29006	0.0:0.6654:0.148:0.1866	.	687;659;659	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	H	659;659;687;426	ENSP00000339491:R659H;ENSP00000414273:R687H	ENSP00000329568:R659H	R	-	2	0	NLRP7	60141377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.599000	0.00893	-1.717000	0.01385	-1.069000	0.02264	CGC		0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP7	199713	broad.mit.edu	37	19	55450617	55450617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55450617C>T	ENST00000590030.1	-	3	1610	c.1570G>A	c.(1570-1572)Ggc>Agc	p.G524S	NLRP7_ENST00000592784.1_Missense_Mutation_p.G524S|NLRP7_ENST00000588756.1_Missense_Mutation_p.G524S|NLRP7_ENST00000340844.2_Missense_Mutation_p.G524S|NLRP7_ENST00000446217.1_Missense_Mutation_p.G552S|NLRP7_ENST00000448121.2_Missense_Mutation_p.G524S|NLRP7_ENST00000328092.5_Missense_Mutation_p.G524S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	524							ATP binding (GO:0005524)	p.G524S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTAGCGAGGCCGAATAAGAAG	0.537																																					p.G524S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1570A	19						.						81.0	82.0	81.0					19																	55450617		2203	4300	6503	60142429	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1570G>A	19.37:g.55450617C>T	ENSP00000465520:p.Gly524Ser	Somatic		Capture	Illumina HiSeq	Phase_I	60142429	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735621	0.49045	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	D;D;D;D	0.87256	-2.19;-2.19;-2.23;-2.23	2.34	1.28	0.21552	.	0.000000	0.33938	N	0.004404	D	0.92928	0.7750	M	0.93150	3.385	0.28805	N	0.898567	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.71656	0.942;0.942;0.942;0.974	D	0.85628	0.1268	10	0.56958	D	0.05	.	5.0889	0.14698	0.0:0.8256:0.0:0.1744	.	552;524;524;524	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	524;524;524;552;291	ENSP00000329568:G524S;ENSP00000409137:G524S;ENSP00000339491:G524S;ENSP00000414273:G552S	ENSP00000329568:G524S	G	-	1	0	NLRP7	60142429	1.000000	0.71417	0.424000	0.26647	0.052000	0.14988	4.218000	0.58554	0.552000	0.29026	0.462000	0.41574	GGC		0.537	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP2	55655	broad.mit.edu	37	19	55493031	55493031	+	Silent	SNP	C	C	T	rs150626673		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55493031C>T	ENST00000543010.1	+	5	587	c.444C>T	c.(442-444)gtC>gtT	p.V148V	NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000538819.1_Silent_p.V124V|NLRP2_ENST00000263437.6_Silent_p.V145V|NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000448584.2_Silent_p.V148V|NLRP2_ENST00000391721.4_Silent_p.V124V|NLRP2_ENST00000427260.2_Silent_p.V125V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	148					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V148V(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTAAAGAAGTCTTTAAAGGAA	0.383																																					p.V125V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	19						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	111.0	112.0	112.0		444,,375,444	-1.6	0.0	19	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	148/1063,,125/1040,148/1063	55493031	1,13005	2203	4300	6503	60184843	SO:0001819	synonymous_variant	55655	exon6			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.444C>T	19.37:g.55493031C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60184843	NM_001174083	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				0.383	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP2	55655	broad.mit.edu	37	19	55501440	55501440	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55501440C>T	ENST00000543010.1	+	9	2560	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V	NLRP2_ENST00000339757.7_Missense_Mutation_p.A784V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A782V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A803V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A784V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A806V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A782V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A783V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	806					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.A806V(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCTCCTTGGCCCTTGAAGTC	0.488																																					p.A783V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2348T	19						.						128.0	112.0	117.0					19																	55501440		2203	4300	6503	60193252	SO:0001583	missense	55655	exon10			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2417C>T	19.37:g.55501440C>T	ENSP00000445135:p.Ala806Val	Somatic		Capture	Illumina HiSeq	Phase_I	60193252	NM_001174083	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	4.485	0.089927	0.08632	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	2.55	-1.36	0.09085	.	.	.	.	.	T	0.24160	0.0585	N	0.11698	0.16	0.09310	N	1	B;B;B;B;B	0.24426	0.103;0.077;0.025;0.042;0.025	B;B;B;B;B	0.26969	0.023;0.075;0.034;0.075;0.034	T	0.27739	-1.0065	9	0.02654	T	1	.	4.0108	0.09621	0.0:0.3319:0.4821:0.186	.	783;784;803;782;806	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	806;782;784;806;784;783;782;803	ENSP00000445135:A806V;ENSP00000375601:A782V;ENSP00000344074:A784V;ENSP00000409370:A806V;ENSP00000440601:A784V;ENSP00000402474:A783V;ENSP00000441133:A782V;ENSP00000263437:A803V	ENSP00000263437:A803V	A	+	2	0	NLRP2	60193252	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.388000	0.02533	-0.217000	0.10033	-0.175000	0.13238	GCC		0.488	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
PTPRH	5794	broad.mit.edu	37	19	55710171	55710171	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55710171G>T	ENST00000376350.3	-	8	1552	c.1530C>A	c.(1528-1530)gtC>gtA	p.V510V	PTPRH_ENST00000263434.5_Silent_p.V332V|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	510	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V510V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGACCCATGAGACCCAGTAGC	0.582																																					p.V510V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1530A	19						.						124.0	105.0	112.0					19																	55710171		2203	4300	6503	60401983	SO:0001819	synonymous_variant	5794	exon8				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1530C>A	19.37:g.55710171G>T		Somatic		Capture	Illumina HiSeq	Phase_I	60401983	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
RPL28	6158	broad.mit.edu	37	19	55899405	55899405	+	Missense_Mutation	SNP	G	G	A	rs75906051		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55899405G>A	ENST00000344063.2	+	4	942	c.313G>A	c.(313-315)Gac>Aac	p.D105N	RPL28_ENST00000558815.1_Missense_Mutation_p.D105N|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000458349.2_Missense_Mutation_p.D105N|RPL28_ENST00000560055.1_Missense_Mutation_p.D105N|RPL28_ENST00000559463.1_Missense_Mutation_p.D105N|RPL28_ENST00000560583.1_Missense_Mutation_p.D105N			P46779	RL28_HUMAN	ribosomal protein L28	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.D105N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTACCGCCCCGACCTGCGCAT	0.602																																					p.D105N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	19						.						86.0	74.0	78.0					19																	55899405		2203	4300	6503	60591217	SO:0001583	missense	6158	exon4			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.313G>A	19.37:g.55899405G>A	ENSP00000342787:p.Asp105Asn	Somatic		Capture	Illumina HiSeq	Phase_I	60591217	NM_001136135	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109140	0.77096	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.55052	0.54;0.54	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	M	0.93462	3.42	0.58432	D	0.999996	D;D;P	0.76494	0.999;0.999;0.898	P;P;P	0.60415	0.821;0.874;0.694	T	0.82200	-0.0575	10	0.59425	D	0.04	.	13.1887	0.59697	0.0:0.0:1.0:0.0	.	105;105;105	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	N	105	ENSP00000342787:D105N;ENSP00000401450:D105N	ENSP00000342787:D105N	D	+	1	0	RPL28	60591217	1.000000	0.71417	0.673000	0.29887	0.371000	0.29859	8.880000	0.92407	1.864000	0.54056	0.462000	0.41574	GAC		0.602	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991	
NLRP9	338321	broad.mit.edu	37	19	56249636	56249636	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56249636C>T	ENST00000332836.2	-	1	132	c.105G>A	c.(103-105)gaG>gaA	p.E35E	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	35	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.E35E(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTCAAATTTCTCCAAAGGTT	0.438																																					p.E35E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G105A	19						.						186.0	194.0	191.0					19																	56249636		2203	4300	6503	60941448	SO:0001819	synonymous_variant	338321	exon1			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.105G>A	19.37:g.56249636C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60941448	NM_176820	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP4	147945	broad.mit.edu	37	19	56369573	56369573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56369573G>A	ENST00000301295.6	+	3	1236	c.814G>A	c.(814-816)Gag>Aag	p.E272K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E272K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E197K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	272	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E272K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGCTCCCGGAGGCCTCCCT	0.577																																					p.E272K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	19						.						69.0	77.0	74.0					19																	56369573		2203	4300	6503	61061385	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.814G>A	19.37:g.56369573G>A	ENSP00000301295:p.Glu272Lys	Somatic		Capture	Illumina HiSeq	Phase_I	61061385	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507600	0.64410	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78003	-1.14;-1.14	4.1	3.02	0.34903	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.75140	0.3809	L	0.45285	1.41	0.09310	N	1	B;B;P	0.48162	0.044;0.044;0.906	B;B;P	0.49332	0.104;0.063;0.607	T	0.62969	-0.6741	9	0.35671	T	0.21	.	10.2758	0.43510	0.1009:0.0:0.8991:0.0	.	272;197;272	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	272	ENSP00000301295:E272K;ENSP00000344787:E272K	ENSP00000301295:E272K	E	+	1	0	NLRP4	61061385	0.000000	0.05858	0.009000	0.14445	0.092000	0.18411	-0.013000	0.12678	1.036000	0.39998	0.655000	0.94253	GAG		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP4	147945	broad.mit.edu	37	19	56369738	56369738	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56369738C>A	ENST00000301295.6	+	3	1401	c.979C>A	c.(979-981)Ctt>Att	p.L327I	NLRP4_ENST00000346986.5_Missense_Mutation_p.L327I|NLRP4_ENST00000587891.1_Missense_Mutation_p.L252I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	327	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L327I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCTTCAATCTTGTAAGAGA	0.458																																					p.L327I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979A	19						.						58.0	63.0	62.0					19																	56369738		2203	4300	6503	61061550	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.979C>A	19.37:g.56369738C>A	ENSP00000301295:p.Leu327Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61061550	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512452	0.27123	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83075	-1.68;-1.68	4.1	-4.46	0.03536	.	.	.	.	.	T	0.74405	0.3712	L	0.55990	1.75	0.09310	N	1	P;P;P	0.42908	0.691;0.793;0.689	P;B;B	0.44811	0.461;0.436;0.252	T	0.63726	-0.6572	9	0.23302	T	0.38	.	1.9878	0.03440	0.1246:0.1804:0.379:0.3159	.	327;252;327	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	327	ENSP00000301295:L327I;ENSP00000344787:L327I	ENSP00000301295:L327I	L	+	1	0	NLRP4	61061550	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.744000	0.04778	-1.058000	0.02302	CTT		0.458	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP4	147945	broad.mit.edu	37	19	56369837	56369837	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56369837G>A	ENST00000301295.6	+	3	1500	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D360N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D285N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	360	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D360N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGAAAAGACCTGGCCCT	0.522																																					p.D360N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078A	19						.						52.0	46.0	48.0					19																	56369837		2203	4300	6503	61061649	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1078G>A	19.37:g.56369837G>A	ENSP00000301295:p.Asp360Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61061649	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777801	0.49786	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.1	4.1	0.47936	.	.	.	.	.	T	0.82075	0.4958	L	0.55834	1.745	0.29724	N	0.838441	P;P;P	0.51653	0.889;0.947;0.911	P;P;B	0.50270	0.618;0.636;0.433	T	0.76119	-0.3076	9	0.35671	T	0.21	.	7.9225	0.29854	0.1114:0.0:0.8886:0.0	.	360;285;360	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	360	ENSP00000301295:D360N;ENSP00000344787:D360N	ENSP00000301295:D360N	D	+	1	0	NLRP4	61061649	0.578000	0.26717	0.047000	0.18901	0.003000	0.03518	1.492000	0.35594	2.278000	0.76064	0.655000	0.94253	GAC		0.522	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP4	147945	broad.mit.edu	37	19	56370123	56370123	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56370123T>C	ENST00000301295.6	+	3	1786	c.1364T>C	c.(1363-1365)aTc>aCc	p.I455T	NLRP4_ENST00000346986.5_Missense_Mutation_p.I455T|NLRP4_ENST00000587891.1_Missense_Mutation_p.I380T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	455	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I455T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CACGTGTGTATCCAGGAGTTC	0.517																																					p.I455T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1364C	19						.						149.0	142.0	144.0					19																	56370123		2203	4300	6503	61061935	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1364T>C	19.37:g.56370123T>C	ENSP00000301295:p.Ile455Thr	Somatic		Capture	Illumina HiSeq	Phase_I	61061935	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672156	0.29693	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.87571	-2.27;-2.27	4.1	4.1	0.47936	.	.	.	.	.	D	0.82416	0.5032	L	0.49778	1.585	0.33195	D	0.551352	B;B;P	0.44734	0.078;0.126;0.842	B;B;B	0.37731	0.138;0.174;0.257	D	0.87415	0.2378	9	0.66056	D	0.02	.	11.3715	0.49702	0.0:0.0:0.0:1.0	.	455;380;455	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	T	455	ENSP00000301295:I455T;ENSP00000344787:I455T	ENSP00000301295:I455T	I	+	2	0	NLRP4	61061935	0.938000	0.31826	0.629000	0.29254	0.152000	0.21847	4.290000	0.59019	1.847000	0.53656	0.533000	0.62120	ATC		0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP13	126204	broad.mit.edu	37	19	56423520	56423520	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56423520C>T	ENST00000342929.3	-	5	1662	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	NLRP13_ENST00000588751.1_Missense_Mutation_p.E555K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	555	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E555K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGGGAATTCTCTAGGTTCC	0.458																																					p.E555K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1663A	19						.						121.0	130.0	127.0					19																	56423520		2203	4300	6503	61115332	SO:0001583	missense	126204	exon5			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1663G>A	19.37:g.56423520C>T	ENSP00000343891:p.Glu555Lys	Somatic		Capture	Illumina HiSeq	Phase_I	61115332	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592088	0.13812	.	.	ENSG00000173572	ENST00000342929	D	0.88509	-2.39	2.32	-0.0838	0.13692	.	.	.	.	.	T	0.81399	0.4814	L	0.53617	1.68	0.09310	N	1	P	0.36483	0.555	B	0.31495	0.131	T	0.66909	-0.5804	9	0.28530	T	0.3	.	5.0869	0.14687	0.0:0.6569:0.0:0.3431	.	555	Q86W25	NAL13_HUMAN	K	555	ENSP00000343891:E555K	ENSP00000343891:E555K	E	-	1	0	NLRP13	61115332	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	2.017000	0.40981	-0.076000	0.12775	-0.324000	0.08512	GAA		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NLRP13	126204	broad.mit.edu	37	19	56443480	56443480	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56443480C>A	ENST00000342929.3	-	1	197	c.198G>T	c.(196-198)ttG>ttT	p.L66F	NLRP13_ENST00000588751.1_Missense_Mutation_p.L66F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	66	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.L66F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGACAGATTCAAAGGGTCGG	0.542																																					p.L66F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G198T	19						.						65.0	66.0	66.0					19																	56443480		2203	4300	6503	61135292	SO:0001583	missense	126204	exon1			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.198G>T	19.37:g.56443480C>A	ENSP00000343891:p.Leu66Phe	Somatic		Capture	Illumina HiSeq	Phase_I	61135292	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	1.945	-0.442593	0.04604	.	.	ENSG00000173572	ENST00000342929	T	0.52057	0.68	1.97	-3.53	0.04667	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.29914	0.0748	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	9	0.54805	T	0.06	.	2.0658	0.03602	0.1784:0.3923:0.2953:0.134	.	66	Q86W25	NAL13_HUMAN	F	66	ENSP00000343891:L66F	ENSP00000343891:L66F	L	-	3	2	NLRP13	61135292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.726000	0.01861	-1.565000	0.01676	-1.273000	0.01405	TTG		0.542	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NLRP5	126206	broad.mit.edu	37	19	56544086	56544086	+	Missense_Mutation	SNP	C	C	T	rs144876069		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56544086C>T	ENST00000390649.3	+	8	2386	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	796					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R796W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGACAGAGCGGGCCATGAA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17387	0.0		0.0	False		,,,				2504	0.0				p.R796W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2386T	19						.						93.0	100.0	98.0					19																	56544086		2098	4239	6337	61235898	SO:0001583	missense	126206	exon8			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2386C>T	19.37:g.56544086C>T	ENSP00000375063:p.Arg796Trp	Somatic		Capture	Illumina HiSeq	Phase_I	61235898	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.62	1.400832	0.25291	.	.	ENSG00000171487	ENST00000390649	D	0.89343	-2.5	4.74	-3.22	0.05125	.	1.888990	0.03327	N	0.192807	T	0.78310	0.4263	N	0.16037	0.36	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.64732	-0.6338	10	0.49607	T	0.09	.	5.8624	0.18757	0.0:0.3627:0.2856:0.3517	.	796	P59047	NALP5_HUMAN	W	796	ENSP00000375063:R796W	ENSP00000375063:R796W	R	+	1	2	NLRP5	61235898	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-0.915000	0.04033	-0.644000	0.05465	-0.312000	0.09012	CGG		0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ACSBG2	81616	broad.mit.edu	37	19	6190668	6190668	+	Nonstop_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6190668A>C	ENST00000586696.1	+	14	2277	c.2001A>C	c.(1999-2001)tgA>tgC	p.*667C	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Nonstop_Mutation_p.*667C|ACSBG2_ENST00000588304.1_Nonstop_Mutation_p.*617C|ACSBG2_ENST00000591403.1_Nonstop_Mutation_p.*667C|ACSBG2_ENST00000588485.1_Nonstop_Mutation_p.*480C|RFX2_ENST00000587700.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	0					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.*667C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTACCACTGACTGCTTTGAT	0.433																																					p.X667C												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A2001C	19						.						136.0	119.0	125.0					19																	6190668		2203	4300	6503	6141668	SO:0001578	stop_lost	81616	exon14				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.2001A>C	19.37:g.6190668A>C	ENSP00000465589:p.*667Cysext*3	Somatic		Capture	Illumina HiSeq	Phase_I	6141668	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Nonstop_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	A	2.539	-0.306670	0.05458	.	.	ENSG00000130377	ENST00000252669	.	.	.	2.71	1.64	0.23874	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8504	0.13535	0.8489:0.0:0.1511:0.0	.	.	.	.	C	667	.	.	X	+	3	0	ACSBG2	6141668	0.003000	0.15002	0.048000	0.18961	0.104000	0.19210	0.914000	0.28624	0.413000	0.25759	0.374000	0.22700	TGA		0.433	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
ZSCAN5B	342933	broad.mit.edu	37	19	56701277	56701277	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56701277A>G	ENST00000586855.2	-	5	1720	c.1407T>C	c.(1405-1407)tgT>tgC	p.C469C	ZSCAN5B_ENST00000358992.3_Silent_p.C469C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.C469C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GACAGGTGGGACATTTGTAGG	0.527																																					p.C469C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1407C	19						.						81.0	82.0	82.0					19																	56701277		2084	4244	6328	61393089	SO:0001819	synonymous_variant	342933	exon4				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1407T>C	19.37:g.56701277A>G		Somatic		Capture	Illumina HiSeq	Phase_I	61393089	NM_001080456		Silent	SNP	ENST00000586855.2	37	CCDS46203.1																																																																																				0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
ZNF583	147949	broad.mit.edu	37	19	56934925	56934925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56934925G>T	ENST00000333201.9	+	5	1108	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.E300*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E300*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCAGTGTAAAGAATGTAAAAA	0.433																																					p.E300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G898T	19						.						74.0	78.0	77.0					19																	56934925		2203	4300	6503	61626737	SO:0001587	stop_gained	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.898G>T	19.37:g.56934925G>T	ENSP00000388502:p.Glu300*	Somatic		Capture	Illumina HiSeq	Phase_I	61626737	NM_001159860	O14850|Q2NKK3	Nonsense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524830	0.96431	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	.	.	.	4.33	4.33	0.51752	.	0.000000	0.43579	D	0.000554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	.	E	+	1	0	ZNF583	61626737	0.020000	0.18652	0.322000	0.25334	0.987000	0.75469	1.191000	0.32138	2.415000	0.81967	0.462000	0.41574	GAA		0.433	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF583	147949	broad.mit.edu	37	19	56935058	56935058	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56935058G>T	ENST00000333201.9	+	5	1241	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.R344I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R344I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCATCAGAGAATTCATACA	0.413																																					p.R344I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1031T	19						.						116.0	123.0	121.0					19																	56935058		2203	4300	6503	61626870	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1031G>T	19.37:g.56935058G>T	ENSP00000388502:p.Arg344Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61626870	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527511	0.64860	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.33	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000196	T	0.50309	0.1608	M	0.81179	2.53	0.50813	D	0.999898	D	0.89917	1.0	D	0.80764	0.994	T	0.56080	-0.8038	9	.	.	.	.	15.2331	0.73407	0.0:0.5566:0.4434:0.0	.	344	Q96ND8	ZN583_HUMAN	I	344	ENSP00000291598:R344I;ENSP00000388502:R344I	.	R	+	2	0	ZNF583	61626870	0.000000	0.05858	0.640000	0.29408	0.996000	0.88848	-0.098000	0.11024	0.166000	0.19597	0.462000	0.41574	AGA		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF583	147949	broad.mit.edu	37	19	56935394	56935394	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56935394G>T	ENST00000333201.9	+	5	1577	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R456I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R456I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAAGTCATACT	0.408																																					p.R456I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1367T	19						.						71.0	72.0	71.0					19																	56935394		2203	4300	6503	61627206	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1367G>T	19.37:g.56935394G>T	ENSP00000388502:p.Arg456Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61627206	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229903	0.58777	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.51	-0.453	0.12201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000278	T	0.43809	0.1264	M	0.77616	2.38	0.26551	N	0.973903	D	0.63046	0.992	D	0.71656	0.974	T	0.24512	-1.0158	9	.	.	.	.	8.0631	0.30644	0.0751:0.0:0.5285:0.3965	.	456	Q96ND8	ZN583_HUMAN	I	456	ENSP00000291598:R456I;ENSP00000388502:R456I	.	R	+	2	0	ZNF583	61627206	0.000000	0.05858	0.330000	0.25442	0.995000	0.86356	-0.104000	0.10923	-0.030000	0.13804	0.563000	0.77884	AGA		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF667	63934	broad.mit.edu	37	19	56953378	56953378	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56953378G>T	ENST00000504904.3	-	7	1705	c.986C>A	c.(985-987)cCt>cAt	p.P329H	ZNF667_ENST00000292069.6_Missense_Mutation_p.P329H|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.P457H			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P329H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTTAAAAGGATTCTCTAA	0.363																																					p.P329H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986A	19						.						98.0	101.0	100.0					19																	56953378		2203	4300	6503	61645190	SO:0001583	missense	63934	exon5				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.986C>A	19.37:g.56953378G>T	ENSP00000439402:p.Pro329His	Somatic		Capture	Illumina HiSeq	Phase_I	61645190	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024847	0.54683	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.34859	1.34;1.34;1.34	5.05	5.05	0.67936	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163614	0.29383	N	0.012311	T	0.64216	0.2578	M	0.84511	2.7	0.36585	D	0.873768	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.967	T	0.74965	-0.3484	10	0.87932	D	0	-6.5954	15.9371	0.79720	0.0:0.0:1.0:0.0	.	457;329	E7EPS0;Q5HYK9	.;ZN667_HUMAN	H	457;329;329;111;101	ENSP00000344699:P457H;ENSP00000439402:P329H;ENSP00000292069:P329H	ENSP00000292069:P329H	P	-	2	0	ZNF667	61645190	1.000000	0.71417	0.978000	0.43139	0.617000	0.37484	4.880000	0.63107	2.623000	0.88846	0.591000	0.81541	CCT		0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZFP28	140612	broad.mit.edu	37	19	57066484	57066484	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57066484G>T	ENST00000301318.3	+	8	2401	c.2330G>T	c.(2329-2331)aGa>aTa	p.R777I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	777				Missing (in Ref. 5). {ECO:0000305}.	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)	p.R777I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTACATCAGAGAATCCATTCT	0.388																																					p.R777I	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2330T	19						.						110.0	99.0	102.0					19																	57066484		2203	4300	6503	61758296	SO:0001583	missense	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2330G>T	19.37:g.57066484G>T	ENSP00000301318:p.Arg777Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61758296	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743366	0.49151	.	.	ENSG00000196867	ENST00000301318	T	0.24908	1.83	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000137	T	0.46425	0.1392	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.47100	-0.9143	10	0.54805	T	0.06	.	4.5995	0.12347	0.1121:0.0:0.6688:0.2191	.	777	Q8NHY6	ZFP28_HUMAN	I	777	ENSP00000301318:R777I	ENSP00000301318:R777I	R	+	2	0	ZFP28	61758296	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	0.649000	0.24843	2.303000	0.77524	0.655000	0.94253	AGA		0.388	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZNF470	388566	broad.mit.edu	37	19	57089719	57089719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57089719G>T	ENST00000330619.8	+	6	2608	c.1922G>T	c.(1921-1923)aGa>aTa	p.R641I	ZNF470_ENST00000391709.3_Missense_Mutation_p.R641I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	641					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)	p.R641I(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGCATCAGAGAATTCATACA	0.398																																					p.R641I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1922T	19						.						79.0	76.0	77.0					19																	57089719		2203	4300	6503	61781531	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1922G>T	19.37:g.57089719G>T	ENSP00000333223:p.Arg641Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61781531	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850213	0.51270	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.24908	1.83;1.83	4.24	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	M	0.81112	2.525	0.35346	D	0.786935	P	0.45672	0.864	B	0.42995	0.404	T	0.43798	-0.9369	9	0.62326	D	0.03	.	1.6506	0.02771	0.1823:0.1701:0.4729:0.1748	.	641	Q6ECI4	ZN470_HUMAN	I	641	ENSP00000375590:R641I;ENSP00000333223:R641I	ENSP00000333223:R641I	R	+	2	0	ZNF470	61781531	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.046000	0.14035	0.974000	0.38366	0.561000	0.74099	AGA		0.398	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF835	90485	broad.mit.edu	37	19	57176584	57176584	+	5'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57176584C>A	ENST00000537055.2	-	0	214					NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835						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)	p.A17S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCTGGGCTGCTGTCTTGATC	0.493																																					p.A17S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49T	19						.						51.0	51.0	51.0					19																	57176584		1931	4132	6063	61868396	SO:0001623	5_prime_UTR_variant	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.-18G>T	19.37:g.57176584C>A		Somatic		Capture	Illumina HiSeq	Phase_I	61868396	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	5.545	0.285360	0.10513	.	.	ENSG00000127903	ENST00000342088	.	.	.	2.32	1.27	0.21489	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.20873	N	0.99984	B	0.30068	0.267	B	0.25291	0.059	T	0.28996	-1.0026	7	0.06891	T	0.86	.	5.0019	0.14268	0.0:0.8248:0.0:0.1752	.	17	Q9Y2P0	ZN835_HUMAN	S	17	.	ENSP00000341756:A17S	A	-	1	0	ZNF835	61868396	0.000000	0.05858	0.046000	0.18839	0.077000	0.17291	0.127000	0.15790	0.544000	0.28883	-0.258000	0.10820	GCA		0.493	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ZIM2	23619	broad.mit.edu	37	19	57286090	57286090	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57286090G>T	ENST00000391708.3	-	12	2092	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S517Y|ZIM2_ENST00000599935.1_Missense_Mutation_p.S517Y|ZIM2_ENST00000601070.1_Missense_Mutation_p.S517Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.S517Y	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S517F(1)|p.S517Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTTCTCTTGAGAATGGAGTTG	0.438																																					p.S517Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1550A	19						.						100.0	95.0	97.0					19																	57286090		2203	4300	6503	61977902	SO:0001583	missense	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1550C>A	19.37:g.57286090G>T	ENSP00000375589:p.Ser517Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	61977902	NM_001146326	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284395	0.59867	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.16324	2.35;2.35	4.96	0.201	0.15186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	M	0.73430	2.235	.	.	.	P	0.41947	0.766	B	0.34038	0.174	T	0.18178	-1.0345	8	0.87932	D	0	.	8.3919	0.32533	0.3709:0.0:0.6291:0.0	.	517	Q9NZV7	ZIM2_HUMAN	Y	517	ENSP00000375589:S517Y;ENSP00000221722:S517Y	ENSP00000221722:S517Y	S	-	2	0	ZIM2	61977902	0.957000	0.32711	0.715000	0.30552	0.890000	0.51754	1.527000	0.35975	-0.103000	0.12175	-0.136000	0.14681	TCT		0.438	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
PEG3	5178	broad.mit.edu	37	19	57326421	57326421	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57326421C>T	ENST00000326441.9	-	10	3752	c.3389G>A	c.(3388-3390)aGc>aAc	p.S1130N	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S1004N|PEG3_ENST00000598410.1_Missense_Mutation_p.S1006N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S1130N|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1130					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S1130N(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCACTTCCTGCTGTGGACTTT	0.488																																					p.S1130N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3389A	19						.						153.0	139.0	143.0					19																	57326421		2203	4300	6503	62018233	SO:0001583	missense	5178	exon9			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3389G>A	19.37:g.57326421C>T	ENSP00000326581:p.Ser1130Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62018233	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093704	0.36952	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02812	4.15;4.15	4.06	0.679	0.17975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.536286	0.17263	N	0.180713	T	0.03178	0.0093	L	0.58669	1.825	.	.	.	B;B;P	0.36837	0.175;0.101;0.571	B;B;B	0.35899	0.077;0.103;0.213	T	0.22941	-1.0202	9	0.54805	T	0.06	-14.0098	3.0983	0.06317	0.1718:0.3972:0.3346:0.0964	.	1006;1130;1065	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	1130	ENSP00000326581:S1130N;ENSP00000403051:S1130N	ENSP00000326581:S1130N	S	-	2	0	ZIM2	62018233	0.012000	0.17670	0.003000	0.11579	0.990000	0.78478	0.732000	0.26072	0.254000	0.21573	0.655000	0.94253	AGC		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57326949	57326949	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57326949G>T	ENST00000326441.9	-	10	3224	c.2861C>A	c.(2860-2862)tCt>tAt	p.S954Y	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S828Y|PEG3_ENST00000598410.1_Missense_Mutation_p.S830Y|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S954Y|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	954					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S954Y(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAAGGCAGAGAGTGAATTAC	0.468																																					p.S954Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2861A	19						.						144.0	137.0	139.0					19																	57326949		2203	4300	6503	62018761	SO:0001583	missense	5178	exon9			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2861C>A	19.37:g.57326949G>T	ENSP00000326581:p.Ser954Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62018761	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376389	0.42105	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03358	3.96;3.96	3.99	3.99	0.46301	.	0.150469	0.31734	N	0.007155	T	0.14313	0.0346	M	0.62723	1.935	.	.	.	D;D;D	0.76494	0.971;0.999;0.999	P;D;D	0.70935	0.641;0.968;0.971	T	0.02860	-1.1101	9	0.66056	D	0.02	-18.8911	14.394	0.66999	0.0:0.0:1.0:0.0	.	830;954;889	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	954	ENSP00000326581:S954Y;ENSP00000403051:S954Y	ENSP00000326581:S954Y	S	-	2	0	ZIM2	62018761	0.972000	0.33761	0.943000	0.38184	0.451000	0.32288	1.985000	0.40668	2.539000	0.85634	0.655000	0.94253	TCT		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	rs139872811		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A201V(2)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532																																					p.A201V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C602T	19						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176.0	157.0	164.0		602,224,602,227,227,227,602,227	2.0	0.0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	64,64,64,64,64,64,64,64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	201/1589,75/1463,201/1589,76/1465,76/528,76/528,201/1589,76/528	57333086	3,13003	2203	4300	6503	62024898	SO:0001583	missense	5178	exon6			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.602C>T	19.37:g.57333086G>A	ENSP00000326581:p.Ala201Val	Somatic		Capture	Illumina HiSeq	Phase_I	62024898	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	ZIM2	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG		0.532	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
USP29	57663	broad.mit.edu	37	19	57640286	57640286	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57640286C>A	ENST00000254181.4	+	4	697	c.243C>A	c.(241-243)ttC>ttA	p.F81L	USP29_ENST00000598197.1_Missense_Mutation_p.F81L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	81					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.F81L(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAACGTGTTCTTGTTTATTG	0.348																																					p.F81L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C243A	19						.						50.0	49.0	49.0					19																	57640286		2203	4300	6503	62332098	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.243C>A	19.37:g.57640286C>A	ENSP00000254181:p.Phe81Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62332098	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801786	0.31869	.	.	ENSG00000131864	ENST00000254181	T	0.51071	0.72	2.79	2.79	0.32731	.	1.327380	0.05735	U	0.600293	T	0.40839	0.1133	L	0.46157	1.445	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.34601	-0.9822	10	0.41790	T	0.15	0.0857	9.2721	0.37677	0.0:1.0:0.0:0.0	.	81	Q9HBJ7	UBP29_HUMAN	L	81	ENSP00000254181:F81L	ENSP00000254181:F81L	F	+	3	2	USP29	62332098	0.004000	0.15560	0.007000	0.13788	0.007000	0.05969	0.303000	0.19210	1.828000	0.53243	0.591000	0.81541	TTC		0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
USP29	57663	broad.mit.edu	37	19	57640713	57640713	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57640713C>T	ENST00000254181.4	+	4	1124	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	USP29_ENST00000598197.1_Missense_Mutation_p.L224F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	224					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L224F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATTTGAAACTCGGGCCTTC	0.363																																					p.L224F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	19						.						62.0	67.0	65.0					19																	57640713		2202	4300	6502	62332525	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.670C>T	19.37:g.57640713C>T	ENSP00000254181:p.Leu224Phe	Somatic		Capture	Illumina HiSeq	Phase_I	62332525	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	1.610	-0.524310	0.04141	.	.	ENSG00000131864	ENST00000254181	T	0.54279	0.58	2.69	-2.52	0.06346	.	0.662638	0.11600	U	0.547876	T	0.18509	0.0444	N	0.01874	-0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14117	-1.0484	10	0.26408	T	0.33	0.0069	2.7777	0.05352	0.3676:0.4016:0.0:0.2307	.	224	Q9HBJ7	UBP29_HUMAN	F	224	ENSP00000254181:L224F	ENSP00000254181:L224F	L	+	1	0	USP29	62332525	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.169000	0.16641	-0.455000	0.07054	0.591000	0.81541	CTC		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
USP29	57663	broad.mit.edu	37	19	57640949	57640949	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57640949G>A	ENST00000254181.4	+	4	1360	c.906G>A	c.(904-906)tcG>tcA	p.S302S	USP29_ENST00000598197.1_Silent_p.S302S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	302	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S302S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTACAATCGCTATTTGCAA	0.458																																					p.S302S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G906A	19						.						85.0	82.0	83.0					19																	57640949		2203	4300	6503	62332761	SO:0001819	synonymous_variant	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.906G>A	19.37:g.57640949G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62332761	NM_020903		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZIM3	114026	broad.mit.edu	37	19	57646651	57646651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57646651C>T	ENST00000269834.1	-	5	1439	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	352					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)	p.D352N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTCATGATCGATGACATTG	0.383																																					p.D352N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1054A	19						.						166.0	163.0	164.0					19																	57646651		2203	4300	6503	62338463	SO:0001583	missense	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1054G>A	19.37:g.57646651C>T	ENSP00000269834:p.Asp352Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62338463	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149574	0.09185	.	.	ENSG00000141946	ENST00000269834	T	0.35973	1.28	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25269	0.0614	N	0.01576	-0.805	0.09310	N	1	D	0.67145	0.996	P	0.62560	0.904	T	0.20405	-1.0276	9	0.17369	T	0.5	.	10.7601	0.46259	0.0:1.0:0.0:0.0	.	352	Q96PE6	ZIM3_HUMAN	N	352	ENSP00000269834:D352N	ENSP00000269834:D352N	D	-	1	0	ZIM3	62338463	0.000000	0.05858	0.053000	0.19242	0.067000	0.16453	-1.106000	0.03319	1.400000	0.46741	0.313000	0.20887	GAT		0.383	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
DUXA	503835	broad.mit.edu	37	19	57670631	57670631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57670631G>A	ENST00000554048.2	-	3	195	c.196C>T	c.(196-198)Cga>Tga	p.R66*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R66*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTAGCTCTTCGATTCTGAAAC	0.423																																					p.R66X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C196T	19						.						78.0	73.0	75.0					19																	57670631		2203	4300	6503	62362443	SO:0001587	stop_gained	503835	exon3				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.196C>T	19.37:g.57670631G>A	ENSP00000452398:p.Arg66*	Somatic		Capture	Illumina HiSeq	Phase_I	62362443	NM_001012729		Nonsense_Mutation	SNP	ENST00000554048.2	37	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164296	0.57476	.	.	ENSG00000258873	ENST00000554048	.	.	.	2.54	1.5	0.22942	.	0.350616	0.16498	N	0.211793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8462	5.3462	0.16010	0.162:0.0:0.838:0.0	.	.	.	.	X	66	.	ENSP00000365415:R66X	R	-	1	2	DUXA	62362443	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.198000	0.42705	0.643000	0.30638	-0.258000	0.10820	CGA		0.423	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	
ZNF264	9422	broad.mit.edu	37	19	57723136	57723136	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57723136T>G	ENST00000263095.6	+	4	1085	c.671T>G	c.(670-672)aTt>aGt	p.I224S	ZNF264_ENST00000536056.1_Missense_Mutation_p.I224S	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I224S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CATGAGAAAATTCACTCTGGA	0.408																																					p.I224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T671G	19						.						99.0	100.0	100.0					19																	57723136		2203	4300	6503	62414948	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.671T>G	19.37:g.57723136T>G	ENSP00000263095:p.Ile224Ser	Somatic		Capture	Illumina HiSeq	Phase_I	62414948	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251673	0.39797	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.17691	2.26;2.26	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29223	0.0727	L	0.52573	1.65	0.25280	N	0.989441	D	0.63880	0.993	D	0.64776	0.929	T	0.03863	-1.0997	9	0.54805	T	0.06	.	7.0198	0.24908	0.0:0.0:0.2303:0.7697	.	224	O43296	ZN264_HUMAN	S	224	ENSP00000263095:I224S;ENSP00000440376:I224S	ENSP00000263095:I224S	I	+	2	0	ZNF264	62414948	0.021000	0.18746	0.989000	0.46669	0.986000	0.74619	0.595000	0.24029	1.340000	0.45581	0.397000	0.26171	ATT		0.408	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF264	9422	broad.mit.edu	37	19	57724048	57724048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57724048G>A	ENST00000263095.6	+	4	1997	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R528Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R528Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AACCTCATTCGACATGCCATT	0.493																																					p.R528Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1583A	19						.						97.0	97.0	97.0					19																	57724048		2203	4300	6503	62415860	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1583G>A	19.37:g.57724048G>A	ENSP00000263095:p.Arg528Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62415860	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866068	0.17250	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.36157	1.27;1.27	2.26	0.53	0.17102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	L	0.58969	1.84	0.09310	N	1	P	0.51537	0.946	P	0.45276	0.475	T	0.17899	-1.0354	9	0.06494	T	0.89	.	2.317	0.04201	0.401:0.0:0.3647:0.2342	.	528	O43296	ZN264_HUMAN	Q	528	ENSP00000263095:R528Q;ENSP00000440376:R528Q	ENSP00000263095:R528Q	R	+	2	0	ZNF264	62415860	0.000000	0.05858	0.177000	0.23020	0.943000	0.58893	-1.093000	0.03362	0.203000	0.20529	0.491000	0.48974	CGA		0.493	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
AURKC	6795	broad.mit.edu	37	19	57743431	57743431	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57743431C>T	ENST00000302804.7	+	3	321	c.135C>T	c.(133-135)atC>atT	p.I45I	AURKC_ENST00000599062.1_Silent_p.I42I|AURKC_ENST00000598785.1_Silent_p.I11I|AURKC_ENST00000448930.1_Silent_p.I11I|AURKC_ENST00000415300.2_Silent_p.I26I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.I45I(2)|p.I11I(2)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTTGAAATCGGGCGTCCCC	0.552																																					p.I26I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C78T	19						.						52.0	48.0	50.0					19																	57743431		2203	4300	6503	62435243	SO:0001819	synonymous_variant	6795	exon3				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.135C>T	19.37:g.57743431C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62435243	NM_001015879	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	CCDS33128.1																																																																																				0.552	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF543	125919	broad.mit.edu	37	19	57839792	57839792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57839792G>A	ENST00000321545.4	+	4	1307	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R321Q(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGCCTTTCGAGATAGGCCA	0.522																																					p.R321Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	19						.						58.0	59.0	58.0					19																	57839792		2203	4300	6503	62531604	SO:0001583	missense	125919	exon4			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.962G>A	19.37:g.57839792G>A	ENSP00000322545:p.Arg321Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62531604	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111952	0.37242	.	.	ENSG00000178229	ENST00000321545	T	0.15718	2.4	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	L	0.49699	1.58	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.03969	-1.0988	9	0.40728	T	0.16	.	8.0591	0.30623	0.126:0.0:0.874:0.0	.	321	Q08ER8	ZN543_HUMAN	Q	321	ENSP00000322545:R321Q	ENSP00000322545:R321Q	R	+	2	0	ZNF543	62531604	0.000000	0.05858	0.392000	0.26245	0.989000	0.77384	-0.275000	0.08525	1.654000	0.50703	0.561000	0.74099	CGA		0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
ZNF304	57343	broad.mit.edu	37	19	57868151	57868151	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57868151G>T	ENST00000282286.5	+	3	1087	c.914G>T	c.(913-915)aGa>aTa	p.R305I	ZNF304_ENST00000598744.1_Missense_Mutation_p.R263I|ZNF304_ENST00000443917.2_Missense_Mutation_p.R352I|ZNF304_ENST00000391705.3_Missense_Mutation_p.R305I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R305T(1)|p.R305I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACTGGAAAAAGACACTATACA	0.438																																					p.R305I												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G914T	19						.						84.0	80.0	81.0					19																	57868151		2203	4300	6503	62559963	SO:0001583	missense	57343	exon3			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.914G>T	19.37:g.57868151G>T	ENSP00000282286:p.Arg305Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62559963	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.891570	0.33442	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.14893	2.47;2.47;2.47	3.92	-1.01	0.10169	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35278	0.0926	M	0.79475	2.455	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.963;0.994	T	0.12656	-1.0539	9	0.87932	D	0	.	5.0485	0.14496	0.2667:0.2895:0.4438:0.0	.	305;352	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	305;305;352	ENSP00000282286:R305I;ENSP00000375586:R305I;ENSP00000401642:R352I	ENSP00000282286:R305I	R	+	2	0	ZNF304	62559963	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	0.264000	0.18497	-0.041000	0.13558	0.580000	0.79431	AGA		0.438	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
ZNF548	147694	broad.mit.edu	37	19	57910487	57910487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57910487G>T	ENST00000366197.5	+	3	1082	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E290*|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E290*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTGGAGAAAGGCCTTA	0.443																																					p.E290X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G868T	19						.						61.0	61.0	61.0					19																	57910487		2199	4297	6496	62602299	SO:0001587	stop_gained	147694	exon4			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.832G>T	19.37:g.57910487G>T	ENSP00000379482:p.Glu278*	Somatic		Capture	Illumina HiSeq	Phase_I	62602299	NM_001172773	Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	38	6.864536	0.97897	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.5914	0.56445	0.0:0.0:1.0:0.0	.	.	.	.	X	290;278	.	ENSP00000337555:E290X	E	+	1	0	ZNF548	62602299	0.977000	0.34250	0.998000	0.56505	0.993000	0.82548	1.078000	0.30754	1.541000	0.49316	0.655000	0.94253	GAA		0.443	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF548	147694	broad.mit.edu	37	19	57910578	57910578	+	Missense_Mutation	SNP	C	C	T	rs555220756		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57910578C>T	ENST00000366197.5	+	3	1173	c.923C>T	c.(922-924)cCg>cTg	p.P308L	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.P320L|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P320L(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCGTATGAGTGC	0.448																																					p.P320L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C959T	19						.						75.0	78.0	77.0					19																	57910578		2199	4300	6499	62602390	SO:0001583	missense	147694	exon4			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.923C>T	19.37:g.57910578C>T	ENSP00000379482:p.Pro308Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62602390	NM_001172773	Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542801	0.86022	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.17054	2.3;2.3	2.31	2.31	0.28768	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34424	0.0897	M	0.82630	2.6	0.40444	D	0.980077	D;D	0.76494	0.999;0.999	P;P	0.54312	0.632;0.748	T	0.46048	-0.9219	9	0.66056	D	0.02	.	11.7213	0.51683	0.0:1.0:0.0:0.0	.	320;308	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	320;308	ENSP00000337555:P320L;ENSP00000379482:P308L	ENSP00000337555:P320L	P	+	2	0	ZNF548	62602390	0.001000	0.12720	0.027000	0.17364	0.922000	0.55478	0.713000	0.25794	1.320000	0.45209	0.563000	0.77884	CCG		0.448	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF548	147694	broad.mit.edu	37	19	57910659	57910659	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57910659G>T	ENST00000366197.5	+	3	1254	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R347I|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R347I(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCGGAGAAAGACCTTATAAG	0.428																																					p.R347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040T	19						.						63.0	67.0	66.0					19																	57910659		2193	4297	6490	62602471	SO:0001583	missense	147694	exon4			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1004G>T	19.37:g.57910659G>T	ENSP00000379482:p.Arg335Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62602471	NM_001172773	Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212773	0.79352	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.42131	0.98;0.98	2.76	0.576	0.17380	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61438	0.2347	M	0.88570	2.965	0.39036	D	0.960039	D;D	0.76494	0.998;0.999	D;D	0.69824	0.943;0.966	T	0.62918	-0.6752	9	0.87932	D	0	.	4.5492	0.12103	0.543:0.0:0.457:0.0	.	347;335	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	I	347;335	ENSP00000337555:R347I;ENSP00000379482:R335I	ENSP00000337555:R347I	R	+	2	0	ZNF548	62602471	0.000000	0.05858	0.012000	0.15200	0.826000	0.46750	-0.094000	0.11094	0.506000	0.28125	0.563000	0.77884	AGA		0.428	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF548	147694	broad.mit.edu	37	19	57910927	57910927	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57910927C>T	ENST00000366197.5	+	3	1522	c.1272C>T	c.(1270-1272)agC>agT	p.S424S	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.S436S|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S436S(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGAGTGCAGCGAATGCGGGA	0.468																																					p.S436S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	19						.						58.0	60.0	59.0					19																	57910927		2200	4299	6499	62602739	SO:0001819	synonymous_variant	147694	exon4			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1272C>T	19.37:g.57910927C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62602739	NM_001172773	Q96M05	Silent	SNP	ENST00000366197.5	37	CCDS46209.1																																																																																				0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF17	7565	broad.mit.edu	37	19	57932665	57932665	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57932665G>T	ENST00000601808.1	+	3	2018	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.R604I	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R602I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTCATGAGAGAGTTCATACT	0.413																																					p.R602I	Melanoma(149;1637 1853 29914 42869 44988)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1805T	19						.						52.0	55.0	54.0					19																	57932665		2189	4293	6482	62624477	SO:0001583	missense	7565	exon3			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1805G>T	19.37:g.57932665G>T	ENSP00000471905:p.Arg602Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62624477	NM_006959	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557712	0.27827	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.57	-5.15	0.02866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47229	0.1434	M	0.78456	2.415	0.09310	N	1	D;P	0.53745	0.962;0.825	P;B	0.54238	0.746;0.256	T	0.41324	-0.9515	8	0.66056	D	0.02	.	1.9354	0.03336	0.4524:0.2383:0.189:0.1203	.	604;602	P17021-2;P17021	.;ZNF17_HUMAN	I	602	.	ENSP00000302455:R602I	R	+	2	0	ZNF17	62624477	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	-1.861000	0.01654	-2.148000	0.00798	-0.244000	0.11960	AGA		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
ZNF749	388567	broad.mit.edu	37	19	57955390	57955390	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57955390C>T	ENST00000334181.4	+	3	1124	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L205F(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCAGGAGATTCTCAGTAGACC	0.448																																					p.L292F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874T	19						.						75.0	76.0	76.0					19																	57955390		2203	4300	6503	62647202	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.874C>T	19.37:g.57955390C>T	ENSP00000333980:p.Leu292Phe	Somatic		Capture	Illumina HiSeq	Phase_I	62647202	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	c	5.789	0.329958	0.10956	.	.	ENSG00000186230	ENST00000334181	T	0.03635	3.86	1.06	-1.46	0.08800	.	.	.	.	.	T	0.02970	0.0088	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43015	-0.9417	9	0.87932	D	0	.	3.6778	0.08298	0.0:0.2629:0.4158:0.3214	.	292	O43361	ZN749_HUMAN	F	292	ENSP00000333980:L292F	ENSP00000333980:L292F	L	+	1	0	ZNF749	62647202	0.175000	0.23083	0.000000	0.03702	0.000000	0.00434	0.136000	0.15974	-0.401000	0.07644	-1.816000	0.00601	CTC		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF749	388567	broad.mit.edu	37	19	57955686	57955686	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57955686C>A	ENST00000334181.4	+	3	1420	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F303L(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GTGGAAAATTCTTTAGTCACC	0.428																																					p.F390L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1170A	19						.						100.0	100.0	100.0					19																	57955686		2203	4300	6503	62647498	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1170C>A	19.37:g.57955686C>A	ENSP00000333980:p.Phe390Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62647498	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940288	0.34283	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.652	0.11450	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.11927	0.2	0.09310	N	0.999998	B	0.11235	0.004	B	0.13407	0.009	T	0.35871	-0.9771	9	0.48119	T	0.1	.	0.2051	0.00149	0.2123:0.2776:0.2096:0.3005	.	390	O43361	ZN749_HUMAN	L	390	ENSP00000333980:F390L	ENSP00000333980:F390L	F	+	3	2	ZNF749	62647498	0.000000	0.05858	0.003000	0.11579	0.586000	0.36452	-2.007000	0.01457	-0.113000	0.11958	0.195000	0.17529	TTC		0.428	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF749	388567	broad.mit.edu	37	19	57956156	57956156	+	Missense_Mutation	SNP	A	A	C	rs566598835|rs200799405	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57956156A>C	ENST00000334181.4	+	3	1890	c.1640A>C	c.(1639-1641)aAg>aCg	p.K547T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K460T(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ATTCAACACAAGAGGATTGAC	0.458																																					p.K547T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1640C	19						.						93.0	88.0	89.0					19																	57956156		2203	4300	6503	62647968	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1640A>C	19.37:g.57956156A>C	ENSP00000333980:p.Lys547Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62647968	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	4.541	0.100476	0.08731	.	.	ENSG00000186230	ENST00000334181	T	0.15372	2.43	0.943	-0.186	0.13272	.	.	.	.	.	T	0.08802	0.0218	L	0.31578	0.945	0.09310	N	1	P	0.36048	0.534	B	0.26517	0.07	T	0.23833	-1.0177	9	0.59425	D	0.04	.	3.0191	0.06070	0.6958:0.0:0.3042:0.0	.	547	O43361	ZN749_HUMAN	T	547	ENSP00000333980:K547T	ENSP00000333980:K547T	K	+	2	0	ZNF749	62647968	0.673000	0.27539	0.002000	0.10522	0.037000	0.13140	-1.121000	0.03270	-0.107000	0.12088	0.113000	0.15668	AAG		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF749	388567	broad.mit.edu	37	19	57956554	57956554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57956554C>T	ENST00000334181.4	+	3	2288	c.2038C>T	c.(2038-2040)Cgc>Tgc	p.R680C	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	680					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R593C(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCTTAGATACCGCTCTACATT	0.368																																					p.R680C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2038T	19						.						43.0	42.0	42.0					19																	57956554		2203	4300	6503	62648366	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2038C>T	19.37:g.57956554C>T	ENSP00000333980:p.Arg680Cys	Somatic		Capture	Illumina HiSeq	Phase_I	62648366	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	1.115	-0.656986	0.03480	.	.	ENSG00000186230	ENST00000334181	T	0.15952	2.38	1.96	-3.93	0.04143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.52266	1.64	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14868	-1.0457	9	0.38643	T	0.18	.	7.4928	0.27471	0.2476:0.6037:0.0:0.1487	.	680	O43361	ZN749_HUMAN	C	680	ENSP00000333980:R680C	ENSP00000333980:R680C	R	+	1	0	ZNF749	62648366	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.894000	0.01607	-2.340000	0.00625	-1.786000	0.00637	CGC		0.368	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF772	400720	broad.mit.edu	37	19	57987134	57987134	+	Silent	SNP	G	G	A	rs140078393	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:57987134G>A	ENST00000343280.4	-	3	353	c.93C>T	c.(91-93)gaC>gaT	p.D31D	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.D31D|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000425074.3_Intron|AC003005.2_ENST00000595422.1_lincRNA	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D31D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18179	0.0		0.001	False		,,,				2504	0.0				p.D31D	Melanoma(5;289 436 14293 15924 30817)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C93T	19						.	G	,	0,4406		0,0,2203	156.0	142.0	147.0		93,93	-5.2	0.9	19	dbSNP_134	147	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF772	NM_001024596.2,NM_001144068.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	31/490,31/449	57987134	3,13003	2203	4300	6503	62678946	SO:0001819	synonymous_variant	400720	exon3			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.93C>T	19.37:g.57987134G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62678946	NM_001024596	A6NJK9|B4DH56|B4DYS0	Silent	SNP	ENST00000343280.4	37	CCDS33133.1																																																																																				0.567	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596	
ZNF549	256051	broad.mit.edu	37	19	58049505	58049505	+	Missense_Mutation	SNP	G	G	A	rs199998659		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58049505G>A	ENST00000376233.3	+	4	1314	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R365Q	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R365Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACCGCATTCGACACCAGAGA	0.438																																					p.R378Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133A	19						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	61.0	62.0		1133,1094	-3.8	0.0	19		62	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF549	NM_001199295.1,NM_153263.2	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	378/641,365/628	58049505	2,13004	2203	4300	6503	62741317	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1133G>A	19.37:g.58049505G>A	ENSP00000365407:p.Arg378Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62741317	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995527	0.19043	2.27E-4	1.16E-4	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.26223	1.75;1.75	2.31	-3.83	0.04269	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	L	0.45137	1.4	0.09310	N	1	D;P	0.63880	0.993;0.523	B;B	0.41466	0.358;0.019	T	0.27872	-1.0061	9	0.07644	T	0.81	.	1.6806	0.02831	0.2379:0.1574:0.4459:0.1588	.	378;365	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	Q	365;378	ENSP00000240719:R365Q;ENSP00000365407:R378Q	ENSP00000240719:R365Q	R	+	2	0	ZNF549	62741317	0.000000	0.05858	0.000000	0.03702	0.850000	0.48378	-5.446000	0.00121	-0.628000	0.05582	0.484000	0.47621	CGA		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF416	55659	broad.mit.edu	37	19	58084065	58084065	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58084065T>A	ENST00000196489.3	-	4	1429	c.1207A>T	c.(1207-1209)Att>Ttt	p.I403F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I403F(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTAGTGTGAATTCTCTGGTGT	0.453																																					p.I403F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1207T	19						.						114.0	102.0	106.0					19																	58084065		2203	4300	6503	62775877	SO:0001583	missense	55659	exon4			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1207A>T	19.37:g.58084065T>A	ENSP00000196489:p.Ile403Phe	Somatic		Capture	Illumina HiSeq	Phase_I	62775877	NM_017879	Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942725	0.53079	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.08807	3.05	3.86	-5.73	0.02398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	M	0.74546	2.27	0.09310	N	1	D	0.55172	0.97	P	0.53450	0.726	T	0.02098	-1.1214	9	0.54805	T	0.06	.	3.5584	0.07873	0.1078:0.211:0.1087:0.5725	.	403	Q9BWM5	ZN416_HUMAN	F	403;362;301	ENSP00000196489:I403F	ENSP00000196489:I403F	I	-	1	0	ZNF416	62775877	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-1.241000	0.02911	-1.210000	0.02627	0.533000	0.62120	ATT		0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
ZIK1	284307	broad.mit.edu	37	19	58101430	58101430	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58101430C>A	ENST00000597850.1	+	4	466	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	ZIK1_ENST00000536878.2_Missense_Mutation_p.S71Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.S29Y|ZIK1_ENST00000307468.4_Missense_Mutation_p.L29M	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S84Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGAATGTTTCTGTAGGAGTG	0.453																																					p.S84Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251A	19						.						90.0	77.0	81.0					19																	58101430		2203	4300	6503	62793242	SO:0001583	missense	284307	exon4			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.251C>A	19.37:g.58101430C>A	ENSP00000472867:p.Ser84Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62793242	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695586	0.30052	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.07114	3.22	2.75	1.66	0.24008	Krueppel-associated box (2);	.	.	.	.	T	0.13243	0.0321	L	0.42245	1.32	0.32604	N	0.525451	D;D	0.57571	0.98;0.973	P;P	0.56865	0.808;0.593	T	0.20371	-1.0277	9	0.87932	D	0	.	5.0685	0.14594	0.0:0.8165:0.0:0.1835	.	71;84	F5H435;Q3SY52	.;ZIK1_HUMAN	Y	71;65;84	ENSP00000438487:S71Y	ENSP00000303820:S84Y	S	+	2	0	ZIK1	62793242	0.000000	0.05858	0.066000	0.19879	0.222000	0.24845	0.143000	0.16115	0.657000	0.30906	0.555000	0.69702	TCT		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZIK1	284307	broad.mit.edu	37	19	58101793	58101793	+	Missense_Mutation	SNP	G	G	A	rs556272973		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58101793G>A	ENST00000597850.1	+	4	829	c.614G>A	c.(613-615)cGc>cAc	p.R205H	ZIK1_ENST00000536878.2_Missense_Mutation_p.R192H|ZIK1_ENST00000599456.1_Missense_Mutation_p.R150H|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R205H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGGACATTCGCAGTCAAAAA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19500	0.0		0.0	False		,,,				2504	0.001				p.R205H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	19						.						73.0	71.0	72.0					19																	58101793		2203	4300	6503	62793605	SO:0001583	missense	284307	exon4			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.614G>A	19.37:g.58101793G>A	ENSP00000472867:p.Arg205His	Somatic		Capture	Illumina HiSeq	Phase_I	62793605	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.389285	0.01185	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05139	3.49	3.36	-1.82	0.07857	.	.	.	.	.	T	0.04003	0.0112	L	0.43646	1.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48305	-0.9047	9	0.02654	T	1	.	4.0332	0.09717	0.3055:0.0:0.4895:0.2049	.	192;205	F5H435;Q3SY52	.;ZIK1_HUMAN	H	192;186;205	ENSP00000438487:R192H	ENSP00000303820:R205H	R	+	2	0	ZIK1	62793605	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.384000	0.07389	-0.239000	0.09710	-0.300000	0.09419	CGC		0.488	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZNF530	348327	broad.mit.edu	37	19	58117599	58117599	+	Nonsense_Mutation	SNP	G	G	T	rs141767267	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58117599G>T	ENST00000332854.6	+	3	926	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E236*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACTCTGGAGAAAGGCCTTA	0.433																																					p.E236X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G706T	19						.						77.0	78.0	78.0					19																	58117599		2203	4300	6503	62809411	SO:0001587	stop_gained	348327	exon3			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.706G>T	19.37:g.58117599G>T	ENSP00000332861:p.Glu236*	Somatic		Capture	Illumina HiSeq	Phase_I	62809411	NM_020880	O43340|Q9P220	Nonsense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610921	0.96637	.	.	ENSG00000183647	ENST00000332854	.	.	.	1.98	-3.96	0.04106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.9401	0.13961	0.2707:0.0:0.5611:0.1683	.	.	.	.	X	236	.	ENSP00000332861:E236X	E	+	1	0	ZNF530	62809411	0.517000	0.26226	0.003000	0.11579	0.907000	0.53573	2.195000	0.42677	-0.903000	0.03881	0.543000	0.68304	GAA		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZNF211	10520	broad.mit.edu	37	19	58153122	58153122	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58153122G>T	ENST00000347302.3	+	3	1447	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF211_ENST00000254182.7_Missense_Mutation_p.R414I|ZNF211_ENST00000541801.1_Missense_Mutation_p.R414I|ZNF211_ENST00000420680.1_Missense_Mutation_p.R427I|ZNF211_ENST00000391703.3_Missense_Mutation_p.R362I|ZNF211_ENST00000544273.1_Missense_Mutation_p.R435I|ZNF211_ENST00000299871.5_Missense_Mutation_p.R488I|ZNF211_ENST00000240731.4_Missense_Mutation_p.R436I	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R436I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGGAGAAAGACCCTATGAG	0.483																																					p.R423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268T	19						.						77.0	80.0	79.0					19																	58153122		2203	4300	6503	62844934	SO:0001583	missense	10520	exon3			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1268G>T	19.37:g.58153122G>T	ENSP00000339562:p.Arg423Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62844934	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.15|17.15	3.316075|3.316075	0.60524|0.60524	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.20332	.|2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	3.15|3.15	0.983|0.983	0.19767|0.19767	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.43964|0.43964	0.1271|0.1271	M|M	0.86740|0.86740	2.835|2.835	0.37597|0.37597	D|D	0.920418|0.920418	.|D;D;D;D;D;D	.|0.76494	.|0.997;0.997;0.999;0.997;0.998;0.998	.|P;P;D;D;D;D	.|0.83275	.|0.899;0.899;0.996;0.931;0.939;0.939	T|T	0.48317|0.48317	-0.9046|-0.9046	5|9	.|0.87932	.|D	.|0	.|.	4.5658|4.5658	0.12186|0.12186	0.5047:0.0:0.4953:0.0|0.5047:0.0:0.4953:0.0	.|.	.|427;435;488;414;423;436	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	N|I	426|427;423;414;362;414;488;435;436	.|ENSP00000399193:R427I;ENSP00000339562:R423I;ENSP00000254182:R414I;ENSP00000375584:R362I;ENSP00000442601:R414I;ENSP00000299871:R488I;ENSP00000441386:R435I;ENSP00000240731:R436I	.|ENSP00000240731:R436I	K|R	+|+	3|2	2|0	ZNF211|ZNF211	62844934|62844934	0.004000|0.004000	0.15560|0.15560	0.882000|0.882000	0.34594|0.34594	0.916000|0.916000	0.54674|0.54674	-0.006000|-0.006000	0.12833|0.12833	0.651000|0.651000	0.30788|0.30788	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.483	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZNF211	10520	broad.mit.edu	37	19	58153529	58153529	+	Missense_Mutation	SNP	C	C	A	rs370873175		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58153529C>A	ENST00000347302.3	+	3	1854	c.1675C>A	c.(1675-1677)Cac>Aac	p.H559N	ZNF211_ENST00000254182.7_Missense_Mutation_p.H550N|ZNF211_ENST00000541801.1_Missense_Mutation_p.H550N|ZNF211_ENST00000420680.1_Missense_Mutation_p.H563N|ZNF211_ENST00000391703.3_Missense_Mutation_p.H498N|ZNF211_ENST00000544273.1_Missense_Mutation_p.H571N|ZNF211_ENST00000299871.5_Missense_Mutation_p.H624N|ZNF211_ENST00000240731.4_Missense_Mutation_p.H572N	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H572N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAGAGTTCACATTGGAGA	0.423																																					p.H559N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1675A	19						.						101.0	102.0	101.0					19																	58153529		2203	4299	6502	62845341	SO:0001583	missense	10520	exon3			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1675C>A	19.37:g.58153529C>A	ENSP00000339562:p.His559Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62845341	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.8|20.8	4.058108|4.058108	0.76074|0.76074	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.12774|.	2.79;2.86;2.65;2.75;2.65;2.76;2.77;2.71|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	D|.	0.84588|.	0.5505|.	H|H	0.97158|0.97158	3.95|3.95	0.35015|0.35015	D|D	0.757262|0.757262	D;D;D;D;D;D|.	0.71674|.	0.988;0.998;0.973;0.99;0.996;0.996|.	P;D;D;D;P;P|.	0.79108|.	0.873;0.946;0.975;0.992;0.885;0.885|.	D|.	0.91832|.	0.5476|.	9|.	0.87932|.	D|.	0|.	.|.	13.0788|13.0788	0.59100|0.59100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	563;571;624;550;559;572|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	N|X	563;559;550;498;550;624;571;572|562	ENSP00000399193:H563N;ENSP00000339562:H559N;ENSP00000254182:H550N;ENSP00000375584:H498N;ENSP00000442601:H550N;ENSP00000299871:H624N;ENSP00000441386:H571N;ENSP00000240731:H572N|.	ENSP00000240731:H572N|.	H|S	+|+	1|2	0|0	ZNF211|ZNF211	62845341|62845341	0.653000|0.653000	0.27358|0.27358	0.378000|0.378000	0.26068|0.26068	0.408000|0.408000	0.30992|0.30992	2.479000|2.479000	0.45197|0.45197	1.652000|1.652000	0.50683|0.50683	0.585000|0.585000	0.79938|0.79938	CAC|TCA		0.423	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZSCAN4	201516	broad.mit.edu	37	19	58187552	58187552	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58187552A>C	ENST00000318203.5	+	3	736	c.39A>C	c.(37-39)ccA>ccC	p.P13P		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	13					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P13P(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTGTGAACCATCCGAGAATA	0.398																																					p.P13P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A39C	19						.						60.0	58.0	58.0					19																	58187552		2203	4300	6503	62879364	SO:0001819	synonymous_variant	201516	exon3			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.39A>C	19.37:g.58187552A>C		Somatic		Capture	Illumina HiSeq	Phase_I	62879364	NM_152677	Q3MIQ2	Silent	SNP	ENST00000318203.5	37	CCDS12958.1																																																																																				0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
ZSCAN4	201516	broad.mit.edu	37	19	58187617	58187617	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58187617G>T	ENST00000318203.5	+	3	801	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	35					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R35I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTTCAGAGAGAAGAAGGG	0.388																																					p.R35I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104T	19						.						95.0	92.0	93.0					19																	58187617		2203	4300	6503	62879429	SO:0001583	missense	201516	exon3			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.104G>T	19.37:g.58187617G>T	ENSP00000321963:p.Arg35Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62879429	NM_152677	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642368	0.14451	.	.	ENSG00000180532	ENST00000318203	T	0.08008	3.14	4.42	-1.87	0.07737	Retrovirus capsid, C-terminal (1);	3.044690	0.00916	N	0.002528	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.34453	-0.9828	10	0.40728	T	0.16	1.1869	0.899	0.01269	0.3562:0.1609:0.3112:0.1718	.	35	Q8NAM6	ZSCA4_HUMAN	I	35	ENSP00000321963:R35I	ENSP00000321963:R35I	R	+	2	0	ZSCAN4	62879429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.179000	0.09768	-0.423000	0.07394	-1.145000	0.01858	AGA		0.388	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
ZNF551	90233	broad.mit.edu	37	19	58198791	58198791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58198791G>T	ENST00000282296.5	+	3	1333	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R367I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R367I(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CGACACCAGAGAGTTCACTCT	0.448																																					p.R367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100T	19						.						79.0	81.0	80.0					19																	58198791		2203	4300	6503	62890603	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1148G>T	19.37:g.58198791G>T	ENSP00000282296:p.Arg383Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62890603	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.439584|3.439584	0.63067|0.63067	.|.	.|.	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.6|2.6	-0.108|-0.108	0.13588|0.13588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|0.000000	.|0.44285	.|U	.|0.000468	T|T	0.53498|0.53498	0.1800|0.1800	L|L	0.39467|0.39467	1.215|1.215	0.40815|0.40815	D|D	0.98345|0.98345	D|.	0.63046|.	0.992|.	D|.	0.63597|.	0.916|.	T|T	0.54675|0.54675	-0.8258|-0.8258	8|7	0.66056|0.48119	D|T	0.02|0.1	.|.	10.7273|10.7273	0.46077|0.46077	0.0:0.3653:0.6346:0.0|0.0:0.3653:0.6346:0.0	.|.	383|.	Q7Z340|.	ZN551_HUMAN|.	I|Y	383;367;166|205	.|.	ENSP00000282296:R367I|ENSP00000437781:S205Y	R|S	+|-	2|2	0|0	ZNF551|AC004017.1	62890603|62890603	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.200000|0.200000	0.23975|0.23975	-0.304000|-0.304000	0.08199|0.08199	0.376000|0.376000	0.24707|0.24707	0.561000|0.561000	0.74099|0.74099	AGA|TCT		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
ZNF551	90233	broad.mit.edu	37	19	58199020	58199020	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58199020C>A	ENST00000282296.5	+	3	1562	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.F443L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F443L(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTAGACAATTCTCTAACCTCA	0.413																																					p.F443L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1329A	19						.						82.0	83.0	83.0					19																	58199020		2203	4300	6503	62890832	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1377C>A	19.37:g.58199020C>A	ENSP00000282296:p.Phe459Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62890832	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	53|53	20.331993|20.331993	0.99929|0.99929	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-4.95|-4.95	0.03048|0.03048	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	6.096540|.	0.00604|.	U|.	0.000394|.	.|T	.|0.08626	.|0.0214	N|N	0.01729|0.01729	-0.75|-0.75	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.04013	.|0.001	.|T	.|0.19778	.|-1.0295	.|8	0.05959|0.33141	T|T	0.93|0.24	.|.	2.4911|2.4911	0.04610|0.04610	0.3303:0.2538:0.3206:0.0953|0.3303:0.2538:0.3206:0.0953	.|.	.|459	.|Q7Z340	.|ZN551_HUMAN	X|L	129|459;443;242	.|.	ENSP00000437781:E129X|ENSP00000282296:F443L	E|F	-|+	1|3	0|2	AC004017.1|ZNF551	62890832|62890832	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-7.709000|-7.709000	0.00031|0.00031	-1.655000|-1.655000	0.01497|0.01497	-0.320000|-0.320000	0.08662|0.08662	GAA|TTC		0.413	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
ZNF154	7710	broad.mit.edu	37	19	58213737	58213737	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58213737A>G	ENST00000512439.2	-	3	776	c.580T>C	c.(580-582)Tgt>Cgt	p.C194R	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.C194R|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	194					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)	p.C194R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACTTCCCACACTCTCGACAT	0.423																																					p.C194R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T580C	19						.						123.0	123.0	123.0					19																	58213737		2184	4285	6469	62905549	SO:0001583	missense	7710	exon3			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.580T>C	19.37:g.58213737A>G	ENSP00000421258:p.Cys194Arg	Somatic		Capture	Illumina HiSeq	Phase_I	62905549	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945136	0.34283	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	D;D	0.85955	-2.05;-2.05	2.82	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93288	0.7861	H	0.96080	3.765	0.51012	D	0.999905	D	0.89917	1.0	D	0.77557	0.99	D	0.91475	0.5200	9	0.87932	D	0	.	7.3287	0.26569	0.7766:0.2234:0.0:0.0	.	194	Q13106	ZN154_HUMAN	R	194	ENSP00000421258:C194R;ENSP00000442370:C194R	ENSP00000442370:C194R	C	-	1	0	ZNF154	62905549	1.000000	0.71417	0.463000	0.27130	0.316000	0.28119	5.184000	0.65070	0.453000	0.26858	0.459000	0.35465	TGT		0.423	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF154	7710	broad.mit.edu	37	19	58216319	58216319	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58216319A>G	ENST00000512439.2	-	2	258	c.62T>C	c.(61-63)gTa>gCa	p.V21A	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.V21A|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.V21A(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGAAGTGTACGGCCACATC	0.522																																					p.V21A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T62C	19						.						150.0	144.0	146.0					19																	58216319		2203	4300	6503	62908131	SO:0001583	missense	7710	exon2			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.62T>C	19.37:g.58216319A>G	ENSP00000421258:p.Val21Ala	Somatic		Capture	Illumina HiSeq	Phase_I	62908131	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701985	0.30232	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.04603	3.59;3.59	2.78	2.78	0.32641	Krueppel-associated box (4);	.	.	.	.	T	0.15825	0.0381	H	0.96080	3.765	0.09310	N	1	B	0.24576	0.106	B	0.31751	0.135	T	0.13980	-1.0489	9	0.87932	D	0	.	7.3676	0.26783	1.0:0.0:0.0:0.0	.	21	Q13106	ZN154_HUMAN	A	21	ENSP00000421258:V21A;ENSP00000442370:V21A	ENSP00000442370:V21A	V	-	2	0	ZNF154	62908131	0.003000	0.15002	0.001000	0.08648	0.746000	0.42486	1.507000	0.35758	1.530000	0.49136	0.260000	0.18958	GTA		0.522	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF776	284309	broad.mit.edu	37	19	58265516	58265516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58265516C>T	ENST00000317178.5	+	3	1281	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R298*(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCACCACCAGCGAGTTCACAC	0.458																																					p.R340X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1018T	19						.						112.0	99.0	103.0					19																	58265516		2203	4300	6503	62957328	SO:0001587	stop_gained	284309	exon3			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1018C>T	19.37:g.58265516C>T	ENSP00000321812:p.Arg340*	Somatic		Capture	Illumina HiSeq	Phase_I	62957328	NM_173632	Q6ZS36|Q8N968	Nonsense_Mutation	SNP	ENST00000317178.5	37	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	C	40	7.969080	0.98588	.	.	ENSG00000152443	ENST00000317178	.	.	.	1.86	0.72	0.18214	.	.	.	.	.	.	.	.	.	.	.	0.27333	N	0.956716	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7198	0.23325	0.7406:0.2594:0.0:0.0	.	.	.	.	X	340	.	ENSP00000321812:R340X	R	+	1	2	ZNF776	62957328	0.000000	0.05858	0.100000	0.21137	0.959000	0.62525	-0.092000	0.11129	-0.005000	0.14395	0.313000	0.20887	CGA		0.458	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	
ZNF586	54807	broad.mit.edu	37	19	58290324	58290324	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58290324G>T	ENST00000396154.2	+	3	542	c.369G>T	c.(367-369)gaG>gaT	p.E123D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.S81I|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.E80D	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E123D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCCTTATGAGTGCAGCAAAT	0.418																																					p.E123D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G369T	19						.						84.0	84.0	84.0					19																	58290324		2067	4256	6323	62982136	SO:0001583	missense	54807	exon3			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.369G>T	19.37:g.58290324G>T	ENSP00000379458:p.Glu123Asp	Somatic		Capture	Illumina HiSeq	Phase_I	62982136	NM_017652	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	CCDS42640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.355|6.355	0.433684|0.433684	0.12045|0.12045	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154|ENST00000396150	T;T|T	0.61158|0.05855	0.13;0.13|3.38	1.79|1.79	-2.19|-2.19	0.07015|0.07015	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.08891|0.08891	0.0220|0.0220	L|L	0.52905|0.52905	1.665|1.665	0.09310|0.09310	N|N	1|1	B|D	0.17667|0.54207	0.023|0.965	B|P	0.20184|0.50192	0.028|0.634	T|T	0.18147|0.18147	-1.0346|-1.0346	9|9	0.54805|0.66056	T|D	0.06|0.02	.|.	3.3247|3.3247	0.07062|0.07062	0.5618:0.0:0.237:0.2012|0.5618:0.0:0.237:0.2012	.|.	123|81	Q9NXT0|A0JLV8	ZN586_HUMAN|.	D|I	123;80;123|81	ENSP00000375583:E80D;ENSP00000379458:E123D|ENSP00000379454:S81I	ENSP00000375583:E80D|ENSP00000379454:S81I	E|S	+|+	3|2	2|0	ZNF586|ZNF586	62982136|62982136	0.000000|0.000000	0.05858|0.05858	0.030000|0.030000	0.17652|0.17652	0.038000|0.038000	0.13279|0.13279	-2.758000|-2.758000	0.00787|0.00787	-0.352000|-0.352000	0.08237|0.08237	-0.218000|-0.218000	0.12543|0.12543	GAG|AGT		0.418	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	
ZNF256	10172	broad.mit.edu	37	19	58453449	58453449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58453449C>A	ENST00000282308.3	-	3	923	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	243					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	p.E243*(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTCCCACATTCACTGCACATG	0.423																																					p.E243X	NSCLC(55;1313 1552 8040 11996)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G727T	19						.						179.0	162.0	168.0					19																	58453449		2203	4300	6503	63145261	SO:0001587	stop_gained	10172	exon3			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.727G>T	19.37:g.58453449C>A	ENSP00000282308:p.Glu243*	Somatic		Capture	Illumina HiSeq	Phase_I	63145261	NM_005773	B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	36	5.897144	0.97081	.	.	ENSG00000152454	ENST00000282308	.	.	.	3.21	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.4809	0.22063	0.0:0.428:0.1243:0.4477	.	.	.	.	X	243	.	ENSP00000282308:E243X	E	-	1	0	ZNF256	63145261	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-1.534000	0.02212	-0.767000	0.04633	0.460000	0.39030	GAA		0.423	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1		
ZNF606	80095	broad.mit.edu	37	19	58490545	58490545	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58490545T>C	ENST00000341164.4	-	7	2123	c.1503A>G	c.(1501-1503)ggA>ggG	p.G501G	ZNF606_ENST00000536132.1_Silent_p.G411G	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G501G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCCTCTGATGTCCAATAAGAT	0.373																																					p.G501G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1503G	19						.						49.0	49.0	49.0					19																	58490545		2203	4299	6502	63182357	SO:0001819	synonymous_variant	80095	exon7			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1503A>G	19.37:g.58490545T>C		Somatic		Capture	Illumina HiSeq	Phase_I	63182357	NM_025027	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	CCDS12968.1																																																																																				0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
ZSCAN1	284312	broad.mit.edu	37	19	58564897	58564897	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58564897C>A	ENST00000282326.1	+	6	952	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	235					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.I235I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGACTGTGATCTCGAGCCCCA	0.632																																					p.I235I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705A	19						.						50.0	53.0	52.0					19																	58564897		2203	4300	6503	63256709	SO:0001819	synonymous_variant	284312	exon6			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.705C>A	19.37:g.58564897C>A		Somatic		Capture	Illumina HiSeq	Phase_I	63256709	NM_182572	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	CCDS12969.1																																																																																				0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
ZNF329	79673	broad.mit.edu	37	19	58639783	58639783	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58639783C>A	ENST00000598312.1	-	4	1321	c.1088G>T	c.(1087-1089)aGg>aTg	p.R363M	ZNF329_ENST00000358067.4_Missense_Mutation_p.R363M	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R363M(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AGTGTGAGTCCTCTCATGCTG	0.507																																					p.R363M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088T	19						.						96.0	86.0	89.0					19																	58639783		2203	4300	6503	63331595	SO:0001583	missense	79673	exon4			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1088G>T	19.37:g.58639783C>A	ENSP00000470008:p.Arg363Met	Somatic		Capture	Illumina HiSeq	Phase_I	63331595	NM_024620	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738072	0.49045	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.25579	1.79;1.79	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000552	T	0.44117	0.1278	M	0.64676	1.99	0.43994	D	0.996692	D	0.89917	1.0	D	0.69142	0.962	T	0.33292	-0.9874	10	0.87932	D	0	-15.8563	10.6735	0.45772	0.0:0.9064:0.0:0.0936	.	363	Q86UD4	ZN329_HUMAN	M	363	ENSP00000350773:R363M;ENSP00000439527:R363M	ENSP00000350773:R363M	R	-	2	0	ZNF329	63331595	0.001000	0.12720	1.000000	0.80357	0.920000	0.55202	1.410000	0.34691	2.691000	0.91804	0.655000	0.94253	AGG		0.507	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
ZNF329	79673	broad.mit.edu	37	19	58640119	58640119	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58640119C>A	ENST00000598312.1	-	4	985	c.752G>T	c.(751-753)aGa>aTa	p.R251I	ZNF329_ENST00000358067.4_Missense_Mutation_p.R251I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R251I(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTGTGGATTCTTTGATGCAC	0.463																																					p.R251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752T	19						.						134.0	129.0	131.0					19																	58640119		2203	4300	6503	63331931	SO:0001583	missense	79673	exon4			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.752G>T	19.37:g.58640119C>A	ENSP00000470008:p.Arg251Ile	Somatic		Capture	Illumina HiSeq	Phase_I	63331931	NM_024620	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903625	0.52333	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000205	T	0.51312	0.1667	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.57100	-0.7869	10	0.66056	D	0.02	-21.5016	16.4515	0.83993	0.0:1.0:0.0:0.0	.	251	Q86UD4	ZN329_HUMAN	I	251	ENSP00000350773:R251I;ENSP00000439527:R251I	ENSP00000350773:R251I	R	-	2	0	ZNF329	63331931	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.209000	0.09358	2.617000	0.88574	0.655000	0.94253	AGA		0.463	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
ZNF132	7691	broad.mit.edu	37	19	58945074	58945074	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58945074G>T	ENST00000254166.3	-	3	2137	c.1737C>A	c.(1735-1737)ttC>ttA	p.F579L	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	579					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)	p.F579L(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTTGGCTAAAGAATTTCCCAC	0.408																																					p.F579L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1737A	19						.						99.0	99.0	99.0					19																	58945074		2203	4300	6503	63636886	SO:0001583	missense	7691	exon3			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1737C>A	19.37:g.58945074G>T	ENSP00000254166:p.Phe579Leu	Somatic		Capture	Illumina HiSeq	Phase_I	63636886	NM_003433	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788766	0.31685	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.00966	5.49	3.69	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00695	0.0023	N	0.13235	0.315	0.22096	N	0.99936	B	0.22414	0.069	B	0.22386	0.039	T	0.50372	-0.8836	9	0.72032	D	0.01	.	1.9164	0.03298	0.3067:0.0:0.4217:0.2717	.	579	P52740	ZN132_HUMAN	L	579;294	ENSP00000254166:F579L	ENSP00000254166:F579L	F	-	3	2	ZNF132	63636886	0.000000	0.05858	0.609000	0.28983	0.990000	0.78478	-0.592000	0.05747	1.757000	0.51966	0.655000	0.94253	TTC		0.408	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433	
ZNF324	25799	broad.mit.edu	37	19	58982592	58982592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58982592G>A	ENST00000536459.2	+	4	1442	c.733G>A	c.(733-735)Gag>Aag	p.E245K	ZNF324_ENST00000535298.1_Missense_Mutation_p.E22K|ZNF324_ENST00000196482.3_Missense_Mutation_p.E245K|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E245K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GACCTGGGACGAGCTGGGCGA	0.637																																					p.E245K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	19						.						25.0	28.0	27.0					19																	58982592		2197	4292	6489	63674404	SO:0001583	missense	25799	exon4			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.733G>A	19.37:g.58982592G>A	ENSP00000444812:p.Glu245Lys	Somatic		Capture	Illumina HiSeq	Phase_I	63674404	NM_014347	B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017641	0.35606	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.06371	3.37;3.37;3.31	3.72	1.2	0.21068	.	0.360135	0.20437	N	0.092359	T	0.04497	0.0123	L	0.35593	1.075	0.09310	N	1	B	0.22211	0.066	B	0.14023	0.01	T	0.34900	-0.9810	10	0.72032	D	0.01	.	3.8068	0.08780	0.1844:0.259:0.5566:0.0	.	245	O75467	Z324A_HUMAN	K	245;245;245;235;22	ENSP00000196482:E245K;ENSP00000444812:E245K;ENSP00000439588:E22K	ENSP00000196482:E245K	E	+	1	0	ZNF324	63674404	0.677000	0.27577	0.021000	0.16686	0.046000	0.14306	0.923000	0.28757	0.356000	0.24157	0.455000	0.32223	GAG		0.637	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
ELANE	1991	broad.mit.edu	37	19	855986	855986	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:855986A>T	ENST00000590230.1	+	6	767	c.626A>T	c.(625-627)aAc>aTc	p.N209I	ELANE_ENST00000263621.1_Missense_Mutation_p.N209I			P08246	ELNE_HUMAN	elastase, neutrophil expressed	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		N -> I (in CH). {ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)	p.N209I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGGTCTGCAACGGGCTAATC	0.657																																					p.N209I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A626T	19						.						47.0	52.0	50.0					19																	855986		2203	4299	6502	806986	SO:0001583	missense	1991	exon5				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.626A>T	19.37:g.855986A>T	ENSP00000466090:p.Asn209Ile	Somatic		Capture	Illumina HiSeq	Phase_I	806986	NM_001972	P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775671	0.31411	.	.	ENSG00000197561	ENST00000263621	D	0.88975	-2.45	4.46	1.16	0.20824	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.563891	0.14336	U	0.326023	D	0.91707	0.7378	M	0.69463	2.115	0.34504	D	0.70632	D	0.62365	0.991	D	0.71184	0.972	D	0.89941	0.4073	10	0.72032	D	0.01	.	6.6071	0.22731	0.6908:0.0:0.3092:0.0	.	209	P08246	ELNE_HUMAN	I	209	ENSP00000263621:N209I	ENSP00000263621:N209I	N	+	2	0	ELANE	806986	0.983000	0.35010	0.698000	0.30274	0.023000	0.10783	2.727000	0.47311	-0.058000	0.13177	-0.464000	0.05259	AAC		0.657	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972	
DOT1L	84444	broad.mit.edu	37	19	2185843	2185843	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:2185843C>T	ENST00000398665.3	+	3	161					NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTCTGCTGCTGTGTTTCAG	0.403																																					.												.	.	0			.	19						.						332.0	346.0	342.0					19																	2185843		1899	4107	6006	2136843	SO:0001627	intron_variant	84444	.			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.126-11C>T	19.37:g.2185843C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2136843	.	O60379|Q96JL1	Intron	SNP	ENST00000398665.3	37	CCDS42460.1																																																																																				0.403	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
TUBB4A	10382	broad.mit.edu	37	19	6495415	6495415	+	Silent	SNP	C	C	T	rs148507956	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6495415C>T	ENST00000264071.2	-	4	1466	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.A365A|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	365			A -> V (in dbSNP:rs1053267). {ECO:0000269|PubMed:6462917}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A365A(1)									CGATGAAGGTCGCGGCCATCT	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		18335	0.0		0.002	False		,,,				2504	0.0				p.A365A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1095A	19						.	C		0,4406		0,0,2203	177.0	155.0	162.0		1095	-6.7	0.9	19	dbSNP_134	162	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TUBB4	NM_006087.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		365/445	6495415	4,13002	2203	4300	6503	6446415	SO:0001819	synonymous_variant	10382	exon4			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1095G>A	19.37:g.6495415C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6446415	NM_006087	B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	CCDS12168.1																																																																																				0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
C3	718	broad.mit.edu	37	19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6680227G>T	ENST00000245907.6	-	36	4490	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1466					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1466*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTACATTAAAGTATTGGTGAA	0.542																																					p.Y1466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4398A	19						.						111.0	106.0	107.0					19																	6680227		2203	4300	6503	6631227	SO:0001587	stop_gained	718	exon36			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4398C>A	19.37:g.6680227G>T	ENSP00000245907:p.Tyr1466*	Somatic		Capture	Illumina HiSeq	Phase_I	6631227	NM_000064	A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	41	9.158183	0.99084	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.97	1.66	0.24008	.	0.429687	0.23526	N	0.047224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8081	0.46529	0.2757:0.0:0.7243:0.0	.	.	.	.	X	1466	.	ENSP00000245907:Y1466X	Y	-	3	2	C3	6631227	0.119000	0.22226	0.812000	0.32479	0.250000	0.25880	0.036000	0.13819	0.528000	0.28580	-1.163000	0.01768	TAC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
C3	718	broad.mit.edu	37	19	6686914	6686914	+	Splice_Site	SNP	C	C	A	rs113795443		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6686914C>A	ENST00000245907.6	-	28	3582		c.e28-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.?(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGGCAGGCTCTATGAGAAAG	0.502																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						100.0	84.0	89.0					19																	6686914		2203	4300	6503	6637914	SO:0001630	splice_region_variant	718	.			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3490-1G>T	19.37:g.6686914C>A		Somatic		Capture	Illumina HiSeq	Phase_I	6637914	.	A7E236	Splice_Site	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398409	0.25205	.	.	ENSG00000125730	ENST00000245907	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1221	0.89574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6637914	1.000000	0.71417	0.888000	0.34837	0.064000	0.16182	6.506000	0.73712	2.871000	0.98454	0.655000	0.94253	.		0.502	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron
C3	718	broad.mit.edu	37	19	6690655	6690655	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6690655G>A	ENST00000245907.6	-	27	3566	c.3474C>T	c.(3472-3474)tgC>tgT	p.C1158C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1158			C -> W (in AHUS5). {ECO:0000269|PubMed:18796626}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.C1158C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTGCTCCTCGCAAATATCTT	0.537																																					p.C1158C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3474T	19	GRCh37	CM086790	C3	M		.						169.0	132.0	144.0					19																	6690655		2203	4300	6503	6641655	SO:0001819	synonymous_variant	718	exon27			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3474C>T	19.37:g.6690655G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6641655	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.537	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
C3	718	broad.mit.edu	37	19	6709782	6709782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6709782C>A	ENST00000245907.6	-	14	1850	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	586					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.E586D(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTGGTCACCCTCTATCTTCA	0.587																																					p.E586D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1758T	19						.						92.0	93.0	93.0					19																	6709782		2203	4300	6503	6660782	SO:0001583	missense	718	exon14			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1758G>T	19.37:g.6709782C>A	ENSP00000245907:p.Glu586Asp	Somatic		Capture	Illumina HiSeq	Phase_I	6660782	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059288	0.76074	.	.	ENSG00000125730	ENST00000245907	T	0.63913	-0.07	5.15	0.531	0.17108	Alpha-2-macroglobulin, N-terminal 2 (1);	0.281322	0.40640	N	0.001047	T	0.62060	0.2397	L	0.53729	1.69	0.23254	N	0.998039	P	0.46578	0.88	P	0.54544	0.755	T	0.51419	-0.8708	10	0.25751	T	0.34	.	7.2055	0.25905	0.0:0.5745:0.0:0.4255	.	586	P01024	CO3_HUMAN	D	586	ENSP00000245907:E586D	ENSP00000245907:E586D	E	-	3	2	C3	6660782	0.668000	0.27493	0.208000	0.23602	0.352000	0.29268	0.025000	0.13577	0.550000	0.28991	0.550000	0.68814	GAG		0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
GPR108	56927	broad.mit.edu	37	19	6736634	6736634	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6736634C>T	ENST00000264080.7	-	2	235	c.209G>A	c.(208-210)gGc>gAc	p.G70D	TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	70						integral component of membrane (GO:0016021)		p.G70D(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTCCCGGAGGCCCAGCCGCAG	0.622											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G70D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	19						.						40.0	45.0	44.0					19																	6736634		2017	4185	6202	6687634	SO:0001583	missense	56927	exon2				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.209G>A	19.37:g.6736634C>T	ENSP00000264080:p.Gly70Asp	Somatic	636	Capture	Illumina HiSeq	Phase_I	6687634	NM_001080452	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.749352	0.49257	.	.	ENSG00000125734	ENST00000264080	T	0.21361	2.01	3.65	2.28	0.28536	.	1.117560	0.06956	U	0.815440	T	0.17408	0.0418	L	0.54323	1.7	0.41067	D	0.985426	B	0.06786	0.001	B	0.06405	0.002	T	0.36866	-0.9730	10	0.10377	T	0.69	.	4.4062	0.11411	0.0:0.7592:0.0:0.2408	.	70	Q9NPR9	GP108_HUMAN	D	70	ENSP00000264080:G70D	ENSP00000264080:G70D	G	-	2	0	GPR108	6687634	0.007000	0.16637	0.998000	0.56505	0.971000	0.66376	-0.042000	0.12063	1.756000	0.51951	0.443000	0.29094	GGC		0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
SH2D3A	10045	broad.mit.edu	37	19	6754673	6754673	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6754673G>A	ENST00000245908.6	-	6	1320	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	SH2D3A_ENST00000437152.3_Missense_Mutation_p.L229F|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	351					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.L351F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAAGAGTGAGCAGCTCCAGG	0.592																																					p.L351F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1051T	19						.						91.0	80.0	84.0					19																	6754673		2203	4300	6503	6705673	SO:0001583	missense	10045	exon6			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1051C>T	19.37:g.6754673G>A	ENSP00000245908:p.Leu351Phe	Somatic		Capture	Illumina HiSeq	Phase_I	6705673	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406904	0.62399	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.39997	2.03;1.05	4.45	4.45	0.53987	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.41712	D	0.000824	T	0.56307	0.1976	L	0.58810	1.83	0.33349	D	0.570805	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.946	T	0.67703	-0.5602	10	0.87932	D	0	-23.7478	8.2595	0.31777	0.1081:0.0:0.8919:0.0	.	229;351	B4DRS7;Q9BRG2	.;SH23A_HUMAN	F	351;229	ENSP00000245908:L351F;ENSP00000393303:L229F	ENSP00000245908:L351F	L	-	1	0	SH2D3A	6705673	0.914000	0.31030	1.000000	0.80357	0.893000	0.52053	-0.014000	0.12656	2.298000	0.77334	0.462000	0.41574	CTC		0.592	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	
VAV1	7409	broad.mit.edu	37	19	6836519	6836519	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6836519G>A	ENST00000602142.1	+	20	1936	c.1854G>A	c.(1852-1854)cgG>cgA	p.R618R	VAV1_ENST00000596764.1_Silent_p.R586R|VAV1_ENST00000539284.1_Silent_p.R521R|VAV1_ENST00000304076.2_Silent_p.R618R|VAV1_ENST00000599806.1_Silent_p.R563R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	618	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R618R(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTTTCTACGGCTCAACCCTG	0.582																																					p.R618R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1854A	19						.						71.0	59.0	63.0					19																	6836519		2203	4300	6503	6787519	SO:0001819	synonymous_variant	7409	exon20				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1854G>A	19.37:g.6836519G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6787519	NM_005428	B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.582	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
VAV1	7409	broad.mit.edu	37	19	6852999	6852999	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:6852999G>T	ENST00000602142.1	+	25	2323	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	VAV1_ENST00000596764.1_Missense_Mutation_p.Q715H|VAV1_ENST00000539284.1_Missense_Mutation_p.Q650H|VAV1_ENST00000304076.2_Missense_Mutation_p.Q725H|VAV1_ENST00000599806.1_Missense_Mutation_p.Q692H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	747	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q747H(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTTACCAGCAGAACTCTCTAA	0.547																																					p.Q747H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2241T	19						.						84.0	79.0	81.0					19																	6852999		2203	4300	6503	6803999	SO:0001583	missense	7409	exon25				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2241G>T	19.37:g.6852999G>T	ENSP00000472929:p.Gln747His	Somatic		Capture	Illumina HiSeq	Phase_I	6803999	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	6.112	0.388843	0.11581	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.62788	-0.0	4.36	2.1	0.27182	SH2 motif (4);	0.140381	0.48286	D	0.000192	T	0.35128	0.0921	N	0.12887	0.27	0.42527	D	0.993023	B;B;B;B	0.28667	0.068;0.219;0.0;0.001	B;B;B;B	0.29267	0.059;0.1;0.002;0.004	T	0.05683	-1.0870	10	0.15066	T	0.55	.	5.05	0.14503	0.3463:0.0:0.6537:0.0	.	650;747;692;747	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	747;650	ENSP00000443242:Q650H	ENSP00000302269:Q747H	Q	+	3	2	VAV1	6803999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.077000	0.30741	1.054000	0.40438	0.563000	0.77884	CAG		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
INSR	3643	broad.mit.edu	37	19	7128909	7128909	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7128909G>T	ENST00000302850.5	-	15	3041	c.2899C>A	c.(2899-2901)Ctc>Atc	p.L967I	INSR_ENST00000341500.5_Missense_Mutation_p.L955I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	967					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.L967I(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACACTGAAGAGAAAGACAAAG	0.388																																					p.L967I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2899A	19						.						75.0	82.0	80.0					19																	7128909		2203	4300	6503	7079909	SO:0001583	missense	3643	exon15			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2899C>A	19.37:g.7128909G>T	ENSP00000303830:p.Leu967Ile	Somatic		Capture	Illumina HiSeq	Phase_I	7079909	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402662	0.25291	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.77358	-1.09;-1.08	5.33	4.09	0.47781	.	0.395100	0.18339	U	0.144223	T	0.54886	0.1886	N	0.11789	0.175	0.45762	D	0.998659	B;B	0.11235	0.004;0.002	B;B	0.15052	0.012;0.005	T	0.49551	-0.8928	10	0.11794	T	0.64	.	6.8033	0.23764	0.152:0.0:0.848:0.0	.	955;967	P06213-2;P06213	.;INSR_HUMAN	I	967;955	ENSP00000303830:L967I;ENSP00000342838:L955I	ENSP00000303830:L967I	L	-	1	0	INSR	7079909	0.998000	0.40836	0.986000	0.45419	0.984000	0.73092	2.218000	0.42889	2.649000	0.89929	0.650000	0.86243	CTC		0.388	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
INSR	3643	broad.mit.edu	37	19	7166391	7166391	+	Silent	SNP	G	G	A	rs372275564		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7166391G>A	ENST00000302850.5	-	8	1777	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	INSR_ENST00000341500.5_Silent_p.F545F	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	545					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.F545F(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTGCCCGTCGAACTCCGTCA	0.557																																					p.F545F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1635T	19						.	G	,	0,4406		0,0,2203	81.0	59.0	67.0		1635,1635	-4.3	0.7	19		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	545/1383,545/1371	7166391	1,13005	2203	4300	6503	7117391	SO:0001819	synonymous_variant	3643	exon8			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1635C>T	19.37:g.7166391G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7117391	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.557	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
PNPLA6	10908	broad.mit.edu	37	19	7606889	7606889	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7606889A>G	ENST00000221249.6	+	13	1502	c.1071A>G	c.(1069-1071)acA>acG	p.T357T	PNPLA6_ENST00000545201.2_Silent_p.T357T|PNPLA6_ENST00000450331.3_Silent_p.T357T|PNPLA6_ENST00000414982.3_Silent_p.T405T|PNPLA6_ENST00000600737.1_Silent_p.T396T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	396					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.T357T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAAGCCCACATCCCTGGAAA	0.632																																					p.T396T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1188G	19						.						58.0	58.0	58.0					19																	7606889		2203	4300	6503	7512889	SO:0001819	synonymous_variant	10908	exon10			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1071A>G	19.37:g.7606889A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7512889	NM_001166114	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.632	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
PNPLA6	10908	broad.mit.edu	37	19	7623982	7623982	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7623982G>A	ENST00000221249.6	+	31	3961	c.3530G>A	c.(3529-3531)cGc>cAc	p.R1177H	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1150H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1177H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1225H|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1215H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1216					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.R1177H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGTACCTGCGCCCGCCCATC	0.582																																					p.R1215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3644A	19						.						81.0	61.0	68.0					19																	7623982		2203	4300	6503	7529982	SO:0001583	missense	10908	exon28			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3530G>A	19.37:g.7623982G>A	ENSP00000221249:p.Arg1177His	Somatic		Capture	Illumina HiSeq	Phase_I	7529982	NM_001166114	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	32	5.106769	0.94292	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.97	4.97	0.65823	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.993;0.997;0.997;0.977	D	0.89982	0.4101	10	0.87932	D	0	-27.7664	15.7601	0.78073	0.0:0.0:1.0:0.0	.	1216;1150;1215;1177	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	H	1177;1150;1225;1177	ENSP00000221249:R1177H;ENSP00000443323:R1150H;ENSP00000407509:R1225H;ENSP00000394348:R1177H	ENSP00000221249:R1177H	R	+	2	0	PNPLA6	7529982	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.022000	0.88759	2.317000	0.78254	0.561000	0.74099	CGC		0.582	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
CD209	30835	broad.mit.edu	37	19	7812184	7812184	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7812184C>T	ENST00000315599.7	-	2	129				CD209_ENST00000601951.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule						antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.?(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCTAAGTCCTCTCTACCTG	0.577																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	19						.						333.0	347.0	342.0					19																	7812184		2203	4300	6503	7718184	SO:0001627	intron_variant	30835	.			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.106+7G>A	19.37:g.7812184C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7718184	.	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Intron	SNP	ENST00000315599.7	37	CCDS12186.1																																																																																				0.577	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
CLEC4M	10332	broad.mit.edu	37	19	7831627	7831627	+	Silent	SNP	C	C	T	rs78409055	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7831627C>T	ENST00000327325.5	+	5	988	c.870C>T	c.(868-870)caC>caT	p.H290H	CLEC4M_ENST00000595496.1_Silent_p.H154H|CLEC4M_ENST00000357361.2_Silent_p.H290H|CLEC4M_ENST00000359059.5_Silent_p.H223H|CLEC4M_ENST00000334806.5_Silent_p.H239H|CLEC4M_ENST00000394122.2_Silent_p.H278H|CLEC4M_ENST00000596707.1_Silent_p.H223H|CLEC4M_ENST00000597522.1_Silent_p.H198H|CLEC4M_ENST00000596363.1_Silent_p.H262H|CLEC4M_ENST00000248228.4_Silent_p.H268H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	290	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.H290H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAACTGGCACGACTCCGTCA	0.597													C|||	13	0.00259585	0.0076	0.0029	5008	,	,		14959	0.0		0.0	False		,,,				2504	0.001				p.H239H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	19						.	C	,,,,,,,,	23,4383	30.8+/-60.4	0,23,2180	100.0	91.0	94.0		717,798,462,669,594,732,801,786,870	-3.1	0.0	19	dbSNP_131	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	,,,,,,,,	0,24,6479	TT,TC,CC		0.0116,0.522,0.1845	,,,,,,,,	239/349,266/376,154/264,223/333,198/233,244/354,267/377,262/297,290/400	7831627	24,12982	2203	4300	6503	7737627	SO:0001819	synonymous_variant	10332	exon5			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.870C>T	19.37:g.7831627C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7737627	NM_001144904	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	CCDS12187.1																																																																																				0.597	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
LRRC8E	80131	broad.mit.edu	37	19	7960608	7960608	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7960608C>A	ENST00000306708.6	+	2	221	c.120C>A	c.(118-120)gtC>gtA	p.V40V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	40					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V40V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGATTGGGGTCTTTGGCTGCA	0.632																																					p.V40V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120A	19						.						116.0	88.0	97.0					19																	7960608		2203	4300	6503	7866608	SO:0001819	synonymous_variant	80131	exon2				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.120C>A	19.37:g.7960608C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7866608	NM_025061	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																				0.632	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
LRRC8E	80131	broad.mit.edu	37	19	7964496	7964496	+	Silent	SNP	C	C	T	rs562985130		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7964496C>T	ENST00000306708.6	+	3	1190	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	363					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F363F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGAATGACTTCGCCTTCATGC	0.582																																					p.F363F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	19						.						106.0	79.0	88.0					19																	7964496		2203	4300	6503	7870496	SO:0001819	synonymous_variant	80131	exon3				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1089C>T	19.37:g.7964496C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7870496	NM_025061	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																				0.582	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
TIMM44	10469	broad.mit.edu	37	19	7998827	7998827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:7998827C>T	ENST00000270538.3	-	6	873	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	202					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.R202Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTGGGGCCTCCGGTAGGGCCC	0.622																																					p.R202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	19						.						65.0	79.0	74.0					19																	7998827		2203	4300	6503	7904827	SO:0001583	missense	10469	exon6			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.605G>A	19.37:g.7998827C>T	ENSP00000270538:p.Arg202Gln	Somatic		Capture	Illumina HiSeq	Phase_I	7904827	NM_006351	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.410544|3.410544	0.62399|0.62399	.|.	.|.	ENSG00000104976|ENSG00000104980	ENST00000394102|ENST00000270538	.|T	.|0.78481	.|-1.18	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.053759	.|0.85682	.|D	.|0.000000	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	.|B	.|0.30033	.|0.266	.|B	.|0.23716	.|0.048	T|T	0.65018|0.65018	-0.6270|-0.6270	6|9	0.87932|.	D|.	0|.	-26.4256|-26.4256	16.2571|16.2571	0.82524|0.82524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|202	.|O43615	.|TIM44_HUMAN	L|Q	19|202	.|ENSP00000270538:R202Q	ENSP00000377662:P19L|.	P|R	+|-	2|2	0|0	SNAPC2|TIMM44	7904827|7904827	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.797000|0.797000	0.45037|0.45037	3.651000|3.651000	0.54431|0.54431	2.454000|2.454000	0.82982|0.82982	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3		
ELAVL1	1994	broad.mit.edu	37	19	8032484	8032484	+	Silent	SNP	G	G	A	rs377051094		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8032484G>A	ENST00000407627.2	-	5	750	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ELAVL1_ENST00000351593.5_Silent_p.F234F|ELAVL1_ENST00000596459.1_Silent_p.F207F|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	207					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.F207F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGGGGCCTCCGAACCGTCGCG	0.627																																					p.F207F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	77.0	65.0	69.0		621	-4.2	1.0	19		69	0,8600		0,0,4300	no	coding-synonymous	ELAVL1	NM_001419.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		207/327	8032484	1,13005	2203	4300	6503	7938484	SO:0001819	synonymous_variant	1994	exon5			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.621C>T	19.37:g.8032484G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7938484	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	CCDS12193.1																																																																																				0.627	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	
FBN3	84467	broad.mit.edu	37	19	8136996	8136996	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8136996T>C	ENST00000600128.1	-	63	8438	c.8024A>G	c.(8023-8025)gAa>gGa	p.E2675G	FBN3_ENST00000601739.1_Missense_Mutation_p.E2675G|FBN3_ENST00000270509.2_Missense_Mutation_p.E2675G			Q75N90	FBN3_HUMAN	fibrillin 3	2675						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2675G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTTGCATTCGTAGCAGGC	0.662																																					p.E2675G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8024G	19						.						154.0	144.0	148.0					19																	8136996		2203	4300	6503	8042996	SO:0001583	missense	84467	exon62				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8024A>G	19.37:g.8136996T>C	ENSP00000470498:p.Glu2675Gly	Somatic		Capture	Illumina HiSeq	Phase_I	8042996	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538124	0.85917	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.88277	-2.36	4.75	4.75	0.60458	.	0.000000	0.85682	U	0.000000	D	0.93064	0.7792	M	0.76727	2.345	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;D	0.66084	0.941;0.914	D	0.92555	0.6053	10	0.38643	T	0.18	.	13.9414	0.64057	0.0:0.0:0.0:1.0	.	2675;738	Q75N90;Q6ZNB8	FBN3_HUMAN;.	G	2675;738	ENSP00000270509:E2675G	ENSP00000270509:E2675G	E	-	2	0	FBN3	8042996	1.000000	0.71417	0.728000	0.30774	0.598000	0.36846	7.793000	0.85851	1.784000	0.52394	0.496000	0.49642	GAA		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
FBN3	84467	broad.mit.edu	37	19	8152975	8152975	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8152975G>T	ENST00000600128.1	-	52	6879	c.6465C>A	c.(6463-6465)ggC>ggA	p.G2155G	FBN3_ENST00000601739.1_Silent_p.G2155G|FBN3_ENST00000270509.2_Silent_p.G2155G			Q75N90	FBN3_HUMAN	fibrillin 3	2155	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2155G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGCTCAAAGCCGTCAGCAC	0.627																																					p.G2155G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6465A	19						.						116.0	94.0	101.0					19																	8152975		2203	4300	6503	8058975	SO:0001819	synonymous_variant	84467	exon51				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6465C>A	19.37:g.8152975G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8058975	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
FBN3	84467	broad.mit.edu	37	19	8175808	8175808	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8175808G>A	ENST00000600128.1	-	34	4668	c.4254C>T	c.(4252-4254)agC>agT	p.S1418S	FBN3_ENST00000601739.1_Silent_p.S1418S|FBN3_ENST00000270509.2_Silent_p.S1418S			Q75N90	FBN3_HUMAN	fibrillin 3	1418	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1418S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTTCTCACAGCTCCCAAATG	0.622																																					p.S1418S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4254T	19						.						167.0	134.0	145.0					19																	8175808		2203	4300	6503	8081808	SO:0001819	synonymous_variant	84467	exon33				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4254C>T	19.37:g.8175808G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8081808	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
CERS4	79603	broad.mit.edu	37	19	8321862	8321862	+	Silent	SNP	C	C	T	rs375659893		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8321862C>T	ENST00000251363.5	+	9	942	c.642C>T	c.(640-642)ttC>ttT	p.F214F	CERS4_ENST00000559450.1_Silent_p.F214F|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Silent_p.F163F|CERS4_ENST00000559336.1_Silent_p.F214F	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	214	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.F214F(1)									TACACCACTTCGTGGCGGTCA	0.567																																					p.F214F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	19						.	C		1,4405	2.1+/-5.4	0,1,2202	263.0	251.0	255.0		642	-2.0	0.2	19		255	0,8600		0,0,4300	no	coding-synonymous	CERS4	NM_024552.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		214/395	8321862	1,13005	2203	4300	6503	8227862	SO:0001819	synonymous_variant	79603	exon9				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.642C>T	19.37:g.8321862C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8227862	NM_024552	D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																				0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552	
PRAM1	84106	broad.mit.edu	37	19	8562678	8562678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8562678C>T	ENST00000423345.4	-	4	2066	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	PRAM1_ENST00000255612.3_Missense_Mutation_p.D515N			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	564					integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.D516N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGAGTCATCTCTGGGTTCC	0.512																																					p.D516N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1546A	19						.						81.0	86.0	85.0					19																	8562678		1915	4138	6053	8468678	SO:0001583	missense	84106	exon4			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1546G>A	19.37:g.8562678C>T	ENSP00000408342:p.Asp516Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8468678	NM_032152	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723440	0.30593	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16897	2.31;2.35	3.9	1.79	0.24919	.	1.002160	0.08052	N	0.996794	T	0.19127	0.0459	L	0.51422	1.61	0.09310	N	1	B;P	0.35272	0.039;0.493	B;B	0.39971	0.315;0.206	T	0.33163	-0.9879	10	0.62326	D	0.03	.	5.4395	0.16500	0.0:0.749:0.0:0.251	.	516;564	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	N	515;516	ENSP00000255612:D515N;ENSP00000408342:D516N	ENSP00000255612:D515N	D	-	1	0	PRAM1	8468678	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	0.087000	0.14958	1.008000	0.39264	0.449000	0.29647	GAT		0.512	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152	
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F398F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542																																					p.F398F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1194T	19						.						147.0	143.0	144.0					19																	8612995		1933	4142	6075	8518995	SO:0001819	synonymous_variant	4542	exon12			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1194C>T	19.37:g.8612995G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8518995	NM_012335	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																				0.542	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
ADAMTS10	81794	broad.mit.edu	37	19	8651510	8651510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8651510G>A	ENST00000597188.1	-	20	2605	c.2335C>T	c.(2335-2337)Cga>Tga	p.R779*	ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.R266*|ADAMTS10_ENST00000270328.4_Nonsense_Mutation_p.R779*	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	779	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R779*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCCCCTGTCGCAGTTGAAAG	0.642											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R779X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2335T	19						.						62.0	67.0	65.0					19																	8651510		2203	4300	6503	8557510	SO:0001587	stop_gained	81794	exon20			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2335C>T	19.37:g.8651510G>A	ENSP00000471851:p.Arg779*	Somatic	81	Capture	Illumina HiSeq	Phase_I	8557510	NM_030957	M0QZE4	Nonsense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.365526	0.99392	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	.	.	.	4.92	4.92	0.64577	.	0.070235	0.53938	U	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	17.1157	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	779;533	.	ENSP00000270328:R779X	R	-	1	2	ADAMTS10	8557510	0.999000	0.42202	0.998000	0.56505	0.988000	0.76386	0.952000	0.29149	2.276000	0.75962	0.655000	0.94253	CGA		0.642	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MUC16	94025	broad.mit.edu	37	19	8994424	8994424	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:8994424T>C	ENST00000397910.4	-	64	41671	c.41468A>G	c.(41467-41469)cAg>cGg	p.Q13823R	MUC16_ENST00000380951.5_Missense_Mutation_p.Q464R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13826	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q13823R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGCCCTGAAGGACCCT	0.547																																					p.Q13823R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41468G	19						.						196.0	179.0	185.0					19																	8994424		2040	4200	6240	8855424	SO:0001583	missense	94025	exon64			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41468A>G	19.37:g.8994424T>C	ENSP00000381008:p.Gln13823Arg	Somatic		Capture	Illumina HiSeq	Phase_I	8855424	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.95|14.95	2.687169|2.687169	0.48097|0.48097	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.20598|.	2.06;2.06|.	2.88|2.88	1.86|1.86	0.25419|0.25419	SEA (1);|.	0.550760|.	0.13640|.	N|.	0.373078|.	T|T	0.64649|0.64649	0.2617|0.2617	M|M	0.88704|0.88704	2.975|2.975	.|.	.|.	.|.	B;P|.	0.39576|.	0.149;0.679|.	B;P|.	0.51101|.	0.026;0.659|.	T|T	0.69087|0.69087	-0.5238|-0.5238	9|4	0.59425|.	D|.	0.04|.	.|.	4.7322|4.7322	0.12970|0.12970	0.0:0.1487:0.0:0.8513|0.0:0.1487:0.0:0.8513	.|.	21468;13823|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|G	13823;464|663	ENSP00000381008:Q13823R;ENSP00000370338:Q464R|.	ENSP00000370338:Q464R|.	Q|R	-|-	2|1	0|2	MUC16|MUC16	8855424|8855424	0.416000|0.416000	0.25424|0.25424	0.001000|0.001000	0.08648|0.08648	0.764000|0.764000	0.43329|0.43329	3.278000|3.278000	0.51662|0.51662	0.526000|0.526000	0.28541|0.28541	-0.379000|-0.379000	0.06801|0.06801	CAG|AGG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9038096	9038096	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9038096G>T	ENST00000397910.4	-	8	36383	c.36180C>A	c.(36178-36180)tcC>tcA	p.S12060S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12062	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12060S(1)|p.S7693S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGATGGAGGATGTGGAAA	0.488																																					p.S12060S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C36180A	19						.						59.0	59.0	59.0					19																	9038096		1937	4125	6062	8899096	SO:0001819	synonymous_variant	94025	exon8			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36180C>A	19.37:g.9038096G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8899096	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9046860	9046860	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9046860T>C	ENST00000397910.4	-	5	34974	c.34771A>G	c.(34771-34773)Aca>Gca	p.T11591A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11593	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7224A(1)|p.T11591A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGGAATTGTCCCAGAAACC	0.517																																					p.T11591A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A34771G	19						.						138.0	134.0	136.0					19																	9046860		1966	4156	6122	8907860	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34771A>G	19.37:g.9046860T>C	ENSP00000381008:p.Thr11591Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8907860	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	8.024	0.760242	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	2.49	1.44	0.22558	.	.	.	.	.	T	0.07413	0.0187	L	0.59436	1.845	.	.	.	D	0.53462	0.96	P	0.57620	0.824	T	0.16129	-1.0413	8	0.87932	D	0	.	5.3705	0.16136	0.0:0.1635:0.0:0.8365	.	11591	B5ME49	.	A	11591	ENSP00000381008:T11591A	ENSP00000381008:T11591A	T	-	1	0	MUC16	8907860	0.001000	0.12720	0.008000	0.14137	0.225000	0.24961	-0.009000	0.12765	0.401000	0.25424	0.166000	0.16787	ACA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9046998	9046998	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9046998G>T	ENST00000397910.4	-	5	34836	c.34633C>A	c.(34633-34635)Ctg>Atg	p.L11545M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11547	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L7178M(1)|p.L11545M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTCACCAGATCTGACATA	0.512																																					p.L11545M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C34633A	19						.						132.0	128.0	129.0					19																	9046998		2020	4175	6195	8907998	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34633C>A	19.37:g.9046998G>T	ENSP00000381008:p.Leu11545Met	Somatic		Capture	Illumina HiSeq	Phase_I	8907998	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.558	-0.090176	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	3.21	-6.41	0.01938	.	.	.	.	.	T	0.01222	0.0040	N	0.02802	-0.49	.	.	.	B	0.19817	0.039	B	0.18263	0.021	T	0.49542	-0.8929	8	0.87932	D	0	.	4.1509	0.10237	0.1206:0.2028:0.518:0.1586	.	11545	B5ME49	.	M	11545	ENSP00000381008:L11545M	ENSP00000381008:L11545M	L	-	1	2	MUC16	8907998	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.726000	0.01861	-2.295000	0.00662	-1.095000	0.02154	CTG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9047191	9047191	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9047191C>T	ENST00000397910.4	-	5	34643	c.34440G>A	c.(34438-34440)gaG>gaA	p.E11480E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11482	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E7113E(1)|p.E11480E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATATGGGGTCTCCGTCAGTG	0.498																																					p.E11480E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G34440A	19						.						176.0	170.0	172.0					19																	9047191		2035	4195	6230	8908191	SO:0001819	synonymous_variant	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34440G>A	19.37:g.9047191C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8908191	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9050067	9050067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9050067C>T	ENST00000397910.4	-	5	31767	c.31564G>A	c.(31564-31566)Gaa>Aaa	p.E10522K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10524	Thr-rich.			L -> P (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E10522K(1)|p.E6155K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCATCATTTCTGTGGGGATT	0.507																																					p.E10522K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G31564A	19						.						494.0	466.0	476.0					19																	9050067		2124	4227	6351	8911067	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31564G>A	19.37:g.9050067C>T	ENSP00000381008:p.Glu10522Lys	Somatic		Capture	Illumina HiSeq	Phase_I	8911067	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.511	0.866458	0.17250	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.93	-0.839	0.10759	.	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	.	.	.	B	0.33103	0.397	B	0.26202	0.067	T	0.41197	-0.9522	8	0.87932	D	0	.	3.1553	0.06502	0.0:0.4769:0.2243:0.2987	.	10522	B5ME49	.	K	10522	ENSP00000381008:E10522K	ENSP00000381008:E10522K	E	-	1	0	MUC16	8911067	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.238000	0.08977	-0.073000	0.12842	0.298000	0.19748	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9056181	9056181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9056181C>T	ENST00000397910.4	-	3	31468	c.31265G>A	c.(31264-31266)cGg>cAg	p.R10422Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10424	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R6055Q(1)|p.R10422Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGTCAACCGTGTTGAGAG	0.448																																					p.R10422Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G31265A	19						.						158.0	154.0	155.0					19																	9056181		1945	4139	6084	8917181	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31265G>A	19.37:g.9056181C>T	ENSP00000381008:p.Arg10422Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8917181	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.945	1.218615	0.22373	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	3.94	-4.77	0.03219	.	.	.	.	.	T	0.01254	0.0041	N	0.02539	-0.55	.	.	.	B	0.23735	0.09	B	0.18871	0.023	T	0.47799	-0.9089	8	0.87932	D	0	.	7.8612	0.29511	0.0:0.5053:0.315:0.1797	.	10422	B5ME49	.	Q	10422	ENSP00000381008:R10422Q	ENSP00000381008:R10422Q	R	-	2	0	MUC16	8917181	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.559000	0.05971	-1.051000	0.03226	-0.302000	0.09304	CGG		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9057842	9057842	+	Silent	SNP	C	C	T	rs369819142		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9057842C>T	ENST00000397910.4	-	3	29807	c.29604G>A	c.(29602-29604)ccG>ccA	p.P9868P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9870	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P9868P(1)|p.P5501P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGCTCTGTCGGAATCCTCC	0.473																																					p.P9868P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G29604A	19						.						120.0	114.0	116.0					19																	9057842		1973	4175	6148	8918842	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29604G>A	19.37:g.9057842C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8918842	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C	rs182912100		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		23101	0.001		0.0	False		,,,				2504	0.0				p.T9655A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A28963G	19						.						173.0	152.0	159.0					19																	9058483		2003	4169	6172	8919483	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28963A>G	19.37:g.9058483T>C	ENSP00000381008:p.Thr9655Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8919483	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	MUC16	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9059422	9059422	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9059422A>G	ENST00000397910.4	-	3	28227	c.28024T>C	c.(28024-28026)Tca>Cca	p.S9342P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S9342P(1)|p.S4975P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCTGATGACATTGTGGAT	0.507																																					p.S9342P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T28024C	19						.						161.0	160.0	160.0					19																	9059422		1992	4151	6143	8920422	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28024T>C	19.37:g.9059422A>G	ENSP00000381008:p.Ser9342Pro	Somatic		Capture	Illumina HiSeq	Phase_I	8920422	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.563	0.104526	0.08731	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.23	-0.22	0.13130	.	.	.	.	.	T	0.06050	0.0157	L	0.34521	1.04	.	.	.	D	0.76494	0.999	D	0.68943	0.961	T	0.34204	-0.9838	8	0.87932	D	0	.	4.9335	0.13928	0.5181:0.0:0.0:0.4819	.	9342	B5ME49	.	P	9342	ENSP00000381008:S9342P	ENSP00000381008:S9342P	S	-	1	0	MUC16	8920422	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	-0.046000	0.11983	-0.133000	0.11537	0.378000	0.23410	TCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9059881	9059881	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9059881A>G	ENST00000397910.4	-	3	27768	c.27565T>C	c.(27565-27567)Ttg>Ctg	p.L9189L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9191	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L4822L(1)|p.L9189L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTGCCCAACAGCTCTGTG	0.493																																					p.L9189L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T27565C	19						.						112.0	107.0	108.0					19																	9059881		2015	4188	6203	8920881	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27565T>C	19.37:g.9059881A>G		Somatic		Capture	Illumina HiSeq	Phase_I	8920881	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9060517	9060517	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9060517C>A	ENST00000397910.4	-	3	27132	c.26929G>T	c.(26929-26931)Gac>Tac	p.D8977Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8979	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D8977Y(2)|p.D4610Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAACAATGTCTTTTATGGTG	0.498																																					p.D8977Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G26929T	19						.						202.0	189.0	193.0					19																	9060517		2002	4187	6189	8921517	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26929G>T	19.37:g.9060517C>A	ENSP00000381008:p.Asp8977Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8921517	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.617	0.114740	0.08831	.	.	ENSG00000181143	ENST00000397910	T	0.27402	1.67	2.28	-1.49	0.08718	.	.	.	.	.	T	0.30823	0.0777	L	0.38175	1.15	.	.	.	D	0.58268	0.982	P	0.56865	0.808	T	0.34378	-0.9831	8	0.87932	D	0	.	2.6341	0.04953	0.0:0.3644:0.2637:0.372	.	8977	B5ME49	.	Y	8977	ENSP00000381008:D8977Y	ENSP00000381008:D8977Y	D	-	1	0	MUC16	8921517	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-1.301000	0.02749	-0.256000	0.09473	0.306000	0.20318	GAC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9060948	9060948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9060948C>T	ENST00000397910.4	-	3	26701	c.26498G>A	c.(26497-26499)aGc>aAc	p.S8833N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8835	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S8833N(2)|p.S4466N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCTCTGCTCATAGGAGT	0.532																																					p.S8833N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G26498A	19						.						139.0	131.0	134.0					19																	9060948		2045	4186	6231	8921948	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26498G>A	19.37:g.9060948C>T	ENSP00000381008:p.Ser8833Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8921948	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	-	4.873	0.162309	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	2.12	1.0	0.19881	.	.	.	.	.	T	0.20536	0.0494	N	0.14661	0.345	.	.	.	P	0.48694	0.914	P	0.47744	0.556	T	0.19353	-1.0308	8	0.87932	D	0	.	4.2287	0.10592	0.0:0.7693:0.0:0.2307	.	8833	B5ME49	.	N	8833	ENSP00000381008:S8833N	ENSP00000381008:S8833N	S	-	2	0	MUC16	8921948	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.037000	0.12164	0.403000	0.25479	0.298000	0.19748	AGC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9061323	9061323	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9061323G>T	ENST00000397910.4	-	3	26326	c.26123C>A	c.(26122-26124)tCt>tAt	p.S8708Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8710	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S8708Y(2)|p.S4341Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTTAATCCAGAAGTCAGGGA	0.498																																					p.S8708Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C26123A	19						.						94.0	88.0	90.0					19																	9061323		1957	4143	6100	8922323	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26123C>A	19.37:g.9061323G>T	ENSP00000381008:p.Ser8708Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8922323	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	3.285	-0.146175	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.33	-0.108	0.13588	.	.	.	.	.	T	0.01976	0.0062	N	0.14661	0.345	.	.	.	P	0.46142	0.873	B	0.42245	0.381	T	0.45279	-0.9272	8	0.87932	D	0	.	4.2003	0.10462	0.0:0.2412:0.4682:0.2906	.	8708	B5ME49	.	Y	8708	ENSP00000381008:S8708Y	ENSP00000381008:S8708Y	S	-	2	0	MUC16	8922323	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.262000	0.08682	0.040000	0.15660	0.450000	0.29827	TCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9061629	9061629	+	Missense_Mutation	SNP	C	C	T	rs182118027		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9061629C>T	ENST00000397910.4	-	3	26020	c.25817G>A	c.(25816-25818)cGc>cAc	p.R8606H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8608	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R8606H(4)|p.R4239H(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGCTTGTGCGCAACATGTC	0.468													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22709	0.0		0.0	False		,,,				2504	0.0				p.R8606H												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.G25817A	19						.						129.0	121.0	124.0					19																	9061629		2036	4197	6233	8922629	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25817G>A	19.37:g.9061629C>T	ENSP00000381008:p.Arg8606His	Somatic		Capture	Illumina HiSeq	Phase_I	8922629	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	c	0.920	-0.716105	0.03206	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06371	0.0164	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	8	0.87932	D	0	.	1.9979	0.03460	0.1294:0.1584:0.3869:0.3253	.	8606	B5ME49	.	H	8606	ENSP00000381008:R8606H	ENSP00000381008:R8606H	R	-	2	0	MUC16	8922629	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-2.834000	0.00338	-2.864000	0.00100	CGC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9062923	9062923	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9062923A>G	ENST00000397910.4	-	3	24726	c.24523T>C	c.(24523-24525)Tca>Cca	p.S8175P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8177	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S8175P(2)|p.S3808P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGGTGACACTGTGAGC	0.507																																					p.S8175P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T24523C	19						.						128.0	124.0	125.0					19																	9062923		2081	4219	6300	8923923	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24523T>C	19.37:g.9062923A>G	ENSP00000381008:p.Ser8175Pro	Somatic		Capture	Illumina HiSeq	Phase_I	8923923	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.678	0.493676	0.12702	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	3.31	1.14	0.20703	.	.	.	.	.	T	0.01940	0.0061	L	0.27053	0.805	.	.	.	P	0.37101	0.582	B	0.31614	0.133	T	0.43065	-0.9414	8	0.87932	D	0	.	2.7412	0.05254	0.6513:0.0:0.1263:0.2223	.	8175	B5ME49	.	P	8175	ENSP00000381008:S8175P	ENSP00000381008:S8175P	S	-	1	0	MUC16	8923923	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	-0.350000	0.07721	0.167000	0.19631	0.416000	0.27883	TCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9067487	9067487	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9067487G>T	ENST00000397910.4	-	3	20162	c.19959C>A	c.(19957-19959)ttC>ttA	p.F6653L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6655	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F6653L(2)|p.F2286L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGGAGAATGTTGACT	0.507																																					p.F6653L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C19959A	19						.						101.0	100.0	100.0					19																	9067487		2032	4175	6207	8928487	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19959C>A	19.37:g.9067487G>T	ENSP00000381008:p.Phe6653Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8928487	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.939	0.965383	0.18583	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	2.72	-2.86	0.05717	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	.	.	.	B	0.12630	0.006	B	0.14023	0.01	T	0.46512	-0.9186	8	0.87932	D	0	.	2.4889	0.04605	0.2989:0.0:0.2696:0.4315	.	6653	B5ME49	.	L	6653	ENSP00000381008:F6653L	ENSP00000381008:F6653L	F	-	3	2	MUC16	8928487	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-1.207000	0.03008	-0.512000	0.06505	0.163000	0.16589	TTC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9068997	9068997	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9068997G>T	ENST00000397910.4	-	3	18652	c.18449C>A	c.(18448-18450)tCt>tAt	p.S6150Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6152	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6150Y(2)|p.S1783Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTGTGTAGATATTGTCAA	0.502																																					p.S6150Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C18449A	19						.						65.0	68.0	67.0					19																	9068997		2109	4228	6337	8929997	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18449C>A	19.37:g.9068997G>T	ENSP00000381008:p.Ser6150Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8929997	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.246	-0.154269	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.35	1.35	0.21983	.	.	.	.	.	T	0.07638	0.0192	L	0.48642	1.525	.	.	.	D	0.65815	0.995	D	0.65443	0.935	T	0.18209	-1.0344	8	0.87932	D	0	.	6.1599	0.20358	0.0:0.0:1.0:0.0	.	6150	B5ME49	.	Y	6150	ENSP00000381008:S6150Y	ENSP00000381008:S6150Y	S	-	2	0	MUC16	8929997	0.004000	0.15560	0.011000	0.14972	0.188000	0.23474	1.284000	0.33249	1.055000	0.40461	0.163000	0.16589	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9072831	9072831	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9072831A>T	ENST00000397910.4	-	3	14818	c.14615T>A	c.(14614-14616)aTt>aAt	p.I4872N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4874	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I4872N(2)|p.I505N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATCTGGAAATTGTGGTGTC	0.458																																					p.I4872N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T14615A	19						.						219.0	207.0	211.0					19																	9072831		2042	4202	6244	8933831	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14615T>A	19.37:g.9072831A>T	ENSP00000381008:p.Ile4872Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8933831	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.963	-0.214080	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	2.4	0.203	0.15195	.	.	.	.	.	T	0.16428	0.0395	N	0.19112	0.55	.	.	.	P	0.45827	0.867	B	0.41332	0.354	T	0.17077	-1.0381	8	0.87932	D	0	.	1.9341	0.03333	0.5695:0.0:0.1621:0.2683	.	4872	B5ME49	.	N	4872	ENSP00000381008:I4872N	ENSP00000381008:I4872N	I	-	2	0	MUC16	8933831	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.522000	0.06237	-0.024000	0.13941	0.248000	0.18094	ATT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9077467	9077467	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9077467T>C	ENST00000397910.4	-	3	10182	c.9979A>G	c.(9979-9981)Act>Gct	p.T3327A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T3327A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGACCAGTCCCTGTGATG	0.517																																					p.T3327A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9979G	19						.						122.0	116.0	118.0					19																	9077467		2015	4177	6192	8938467	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9979A>G	19.37:g.9077467T>C	ENSP00000381008:p.Thr3327Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8938467	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.030	-0.199800	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.94	-0.233	0.13078	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.41858	-0.9485	8	0.87932	D	0	.	4.3691	0.11239	0.0:0.3662:0.0:0.6338	.	3327	B5ME49	.	A	3327	ENSP00000381008:T3327A	ENSP00000381008:T3327A	T	-	1	0	MUC16	8938467	0.001000	0.12720	0.001000	0.08648	0.070000	0.16714	0.799000	0.27028	-0.158000	0.11040	-1.193000	0.01689	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9077775	9077775	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9077775A>G	ENST00000397910.4	-	3	9874	c.9671T>C	c.(9670-9672)gTg>gCg	p.V3224A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3225	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V3224A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAATTTCTCACAGTGGACCT	0.522																																					p.V3224A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T9671C	19						.						143.0	140.0	141.0					19																	9077775		1977	4163	6140	8938775	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9671T>C	19.37:g.9077775A>G	ENSP00000381008:p.Val3224Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8938775	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.801	-0.249253	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.1	-0.229	0.13094	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.13145	0.007	B	0.12837	0.008	T	0.44697	-0.9311	8	0.87932	D	0	.	2.6181	0.04909	0.5459:0.2802:0.1738:0.0	.	3224	B5ME49	.	A	3224	ENSP00000381008:V3224A	ENSP00000381008:V3224A	V	-	2	0	MUC16	8938775	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.541000	0.06099	-0.147000	0.11254	-0.736000	0.03550	GTG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9083660	9083660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9083660C>A	ENST00000397910.4	-	1	8358	c.8155G>T	c.(8155-8157)Gaa>Taa	p.E2719*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2719	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E2719*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGACTTTCTGTTACTCCT	0.468																																					p.E2719X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8155T	19						.						140.0	132.0	134.0					19																	9083660		1941	4134	6075	8944660	SO:0001587	stop_gained	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8155G>T	19.37:g.9083660C>A	ENSP00000381008:p.Glu2719*	Somatic		Capture	Illumina HiSeq	Phase_I	8944660	NM_024690	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	49	15.253734	0.99827	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2719	.	ENSP00000381008:E2719X	E	-	1	0	MUC16	8944660	0.357000	0.24938	0.160000	0.22671	0.164000	0.22412	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9087546	9087546	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9087546G>T	ENST00000397910.4	-	1	4472	c.4269C>A	c.(4267-4269)acC>acA	p.T1423T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1423	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T1423T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTAGGGGAGGTAGGGATTA	0.488																																					p.T1423T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4269A	19						.						138.0	133.0	134.0					19																	9087546		2023	4165	6188	8948546	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4269C>A	19.37:g.9087546G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8948546	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9088784	9088784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9088784C>T	ENST00000397910.4	-	1	3234	c.3031G>A	c.(3031-3033)Gca>Aca	p.A1011T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1011	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A1011T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAGAAGTTGCTTCCATGGAA	0.468																																					p.A1011T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3031A	19						.						236.0	221.0	226.0					19																	9088784		1984	4161	6145	8949784	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3031G>A	19.37:g.9088784C>T	ENSP00000381008:p.Ala1011Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8949784	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.231	0.041800	0.08196	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.52	-0.749	0.11084	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.34931	0.192	T	0.48864	-0.8997	8	0.87932	D	0	.	3.8581	0.08984	0.0:0.5297:0.0:0.4703	.	1011	B5ME49	.	T	1011	ENSP00000381008:A1011T	ENSP00000381008:A1011T	A	-	1	0	MUC16	8949784	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.385000	0.07379	-0.158000	0.11040	0.313000	0.20887	GCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7G2	390882	broad.mit.edu	37	19	9213100	9213100	+	Missense_Mutation	SNP	C	C	T	rs368407971		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9213100C>T	ENST00000305456.2	-	1	882	c.883G>A	c.(883-885)Gct>Act	p.A295T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A295T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ATCACTGAAGCCACTGCAGTC	0.463																																					p.A295T	Esophageal Squamous(67;143 1448 28637 40648)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883A	19						.						123.0	108.0	113.0					19																	9213100		2203	4300	6503	9074100	SO:0001583	missense	390882	exon1				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.883G>A	19.37:g.9213100C>T	ENSP00000303822:p.Ala295Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9074100	NM_001005193	Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.645595	0.29246	.	.	ENSG00000170923	ENST00000305456	T	0.38077	1.16	3.14	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	U	0.002196	T	0.39682	0.1087	M	0.75777	2.31	0.09310	N	1	P	0.44195	0.828	P	0.48524	0.58	T	0.34527	-0.9825	10	0.62326	D	0.03	.	1.9775	0.03419	0.2022:0.4813:0.1973:0.1192	.	274	Q8NG99	OR7G2_HUMAN	T	295	ENSP00000303822:A295T	ENSP00000303822:A295T	A	-	1	0	OR7G2	9074100	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.323000	0.07997	0.933000	0.37291	0.447000	0.29281	GCT		0.463	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
ZNF699	374879	broad.mit.edu	37	19	9413107	9413107	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9413107C>A	ENST00000591998.1	-	3	350	c.122G>T	c.(121-123)aGa>aTa	p.R41I	ZNF699_ENST00000308650.3_Missense_Mutation_p.R41I|ZNF699_ENST00000588336.1_5'Flank			Q32M78	ZN699_HUMAN	zinc finger protein 699	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.R41I(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGAGGTTTCTCTGAGCAAG	0.423																																					p.R41I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G122T	19						.						112.0	114.0	113.0					19																	9413107		2203	4300	6503	9274107	SO:0001583	missense	374879	exon2			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.122G>T	19.37:g.9413107C>A	ENSP00000467723:p.Arg41Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9274107	NM_198535	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917214	0.52546	.	.	ENSG00000196110	ENST00000308650	T	0.03035	4.07	3.62	0.199	0.15175	Krueppel-associated box (4);	.	.	.	.	T	0.11239	0.0274	H	0.95504	3.68	0.26831	N	0.968588	P	0.38617	0.64	B	0.42214	0.38	T	0.11743	-1.0575	9	0.87932	D	0	.	3.1479	0.06478	0.2092:0.5589:0.0:0.2319	.	41	Q32M78	ZN699_HUMAN	I	41	ENSP00000311596:R41I	ENSP00000311596:R41I	R	-	2	0	ZNF699	9274107	0.002000	0.14202	0.264000	0.24511	0.904000	0.53231	-0.348000	0.07740	0.143000	0.18926	0.549000	0.68633	AGA		0.423	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535	
ZNF559	84527	broad.mit.edu	37	19	9452360	9452360	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9452360T>G	ENST00000393883.2	+	6	891				ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCATTAATTTTCACCAACAG	0.343																																					.												.	.	0			.	19						.						45.0	48.0	47.0					19																	9452360		2198	4296	6494	9313360	SO:0001627	intron_variant	84527	.			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.244-11T>G	19.37:g.9452360T>G		Somatic		Capture	Illumina HiSeq	Phase_I	9313360	.	K7EMG6	Intron	SNP	ENST00000393883.2	37	CCDS12211.1																																																																																				0.343	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ZNF559	84527	broad.mit.edu	37	19	9453161	9453161	+	Missense_Mutation	SNP	G	G	A	rs138021555	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9453161G>A	ENST00000393883.2	+	6	1682	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000587557.1_Missense_Mutation_p.R409Q|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R265Q|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R345Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R345Q(2)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAACACAGGCGAACTCACACT	0.413													G|||	16	0.00319489	0.0	0.0	5008	,	,		20828	0.0119		0.0	False		,,,				2504	0.0041				p.R345Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1034A	19						.	G	,GLN/ARG,GLN/ARG,,,,,,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	59.0	61.0		,1226,908,,,,,,,1034	-1.5	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,missense,utr-3,utr-3,utr-3,utr-3,utr-3,intron,missense	ZNF559,ZNF559-ZNF177	NM_001172650.2,NM_001202406.1,NM_001202407.1,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1,NM_032497.2	,43,43,,,,,,,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,,,,,,,probably-damaging	,409/603,303/497,,,,,,,345/539	9453161	2,13004	2203	4300	6503	9314161	SO:0001583	missense	84527	exon6			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1034G>A	19.37:g.9453161G>A	ENSP00000377461:p.Arg345Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9314161	NM_032497	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	G	13.91	2.377303	0.42105	2.27E-4	1.16E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.02369	4.32;4.32	1.98	-1.46	0.08800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	M	0.72118	2.19	0.09310	N	1	P;D;B	0.76494	0.866;0.999;0.21	B;P;B	0.51516	0.061;0.672;0.008	T	0.20438	-1.0275	9	0.66056	D	0.02	.	6.3446	0.21343	0.4228:0.0:0.5772:0.0	.	345;345;265	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	345;265;345	ENSP00000442832:R265Q;ENSP00000377461:R345Q	ENSP00000325393:R345Q	R	+	2	0	ZNF559	9314161	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	-0.757000	0.04772	-0.312000	0.08741	-0.657000	0.03884	CGA		0.413	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ZNF560	147741	broad.mit.edu	37	19	9577789	9577789	+	Missense_Mutation	SNP	G	G	A	rs145243922		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9577789G>A	ENST00000301480.4	-	10	2047	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R612C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGATCTGAGCGTTCTGTGAAG	0.418																																					p.R612C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1834T	19						.	G	CYS/ARG	0,4406		0,0,2203	162.0	144.0	150.0		1834	0.9	0.0	19	dbSNP_134	150	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF560	NM_152476.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	612/791	9577789	3,13003	2203	4300	6503	9438789	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1834C>T	19.37:g.9577789G>A	ENSP00000301480:p.Arg612Cys	Somatic		Capture	Illumina HiSeq	Phase_I	9438789	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241694	0.58995	0.0	3.49E-4	ENSG00000198028	ENST00000301480	T	0.16073	2.37	1.89	0.846	0.18955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.49455	1.56	0.09310	N	1	D	0.76494	0.999	P	0.53954	0.738	T	0.11348	-1.0591	9	0.38643	T	0.18	.	4.7062	0.12851	0.8013:0.0:0.1987:0.0	.	612	Q96MR9	ZN560_HUMAN	C	612	ENSP00000301480:R612C	ENSP00000301480:R612C	R	-	1	0	ZNF560	9438789	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-0.740000	0.04861	0.199000	0.20427	0.313000	0.20887	CGC		0.418	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF560	147741	broad.mit.edu	37	19	9578758	9578758	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9578758C>A	ENST00000301480.4	-	10	1078	c.865G>T	c.(865-867)Gat>Tat	p.D289Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D289Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383																																					p.D289Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865T	19						.						122.0	112.0	115.0					19																	9578758		2203	4300	6503	9439758	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.865G>T	19.37:g.9578758C>A	ENSP00000301480:p.Asp289Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	9439758	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635101	0.29068	.	.	ENSG00000198028	ENST00000301480	T	0.15718	2.4	1.91	0.847	0.18961	.	.	.	.	.	T	0.26557	0.0649	L	0.49126	1.545	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.08680	-1.0710	9	0.66056	D	0.02	.	6.4628	0.21966	0.0:0.8305:0.0:0.1695	.	289	Q96MR9	ZN560_HUMAN	Y	289	ENSP00000301480:D289Y	ENSP00000301480:D289Y	D	-	1	0	ZNF560	9439758	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.657000	0.24963	0.351000	0.24027	0.491000	0.48974	GAT		0.383	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF560	147741	broad.mit.edu	37	19	9584928	9584928	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9584928C>A	ENST00000301480.4	-	4	317	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	35	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R35I(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTATAAGTTTCTCTGAACTGG	0.433																																					p.R35I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104T	19						.						139.0	133.0	135.0					19																	9584928		2203	4300	6503	9445928	SO:0001583	missense	147741	exon4			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.104G>T	19.37:g.9584928C>A	ENSP00000301480:p.Arg35Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9445928	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947391	0.34377	.	.	ENSG00000198028	ENST00000301480	T	0.03035	4.07	2.08	1.03	0.20045	Krueppel-associated box (4);	.	.	.	.	T	0.16599	0.0399	M	0.93763	3.455	0.09310	N	1	D	0.67145	0.996	P	0.58970	0.849	T	0.06391	-1.0829	9	0.87932	D	0	.	4.6482	0.12582	0.0:0.8079:0.0:0.1921	.	35	Q96MR9	ZN560_HUMAN	I	35	ENSP00000301480:R35I	ENSP00000301480:R35I	R	-	2	0	ZNF560	9445928	0.198000	0.23374	0.007000	0.13788	0.011000	0.07611	0.308000	0.19314	0.451000	0.26802	-0.391000	0.06502	AGA		0.433	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF121	7675	broad.mit.edu	37	19	9676710	9676710	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9676710C>A	ENST00000586602.1	-	6	1495	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	ZNF121_ENST00000320451.6_Missense_Mutation_p.R360I			P58317	ZN121_HUMAN	zinc finger protein 121	360					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)	p.R360I(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTGTGAATTCTAACATGTTT	0.343																																					p.R360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079T	19						.						71.0	68.0	69.0					19																	9676710		2203	4300	6503	9537710	SO:0001583	missense	7675	exon4			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1079G>T	19.37:g.9676710C>A	ENSP00000468643:p.Arg360Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9537710	NM_001008727		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305793	0.60305	.	.	ENSG00000197961	ENST00000320451	T	0.24908	1.83	1.3	0.123	0.14709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45657	0.1353	M	0.79475	2.455	0.22610	N	0.998936	D	0.89917	1.0	D	0.80764	0.994	T	0.21177	-1.0253	9	0.62326	D	0.03	.	6.3631	0.21439	0.2929:0.7071:0.0:0.0	.	360	P58317	ZN121_HUMAN	I	360	ENSP00000326967:R360I	ENSP00000326967:R360I	R	-	2	0	ZNF121	9537710	0.000000	0.05858	0.010000	0.14722	0.795000	0.44927	-0.797000	0.04570	0.091000	0.17302	-0.500000	0.04577	AGA		0.343	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727	
ZNF846	162993	broad.mit.edu	37	19	9868897	9868897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9868897C>A	ENST00000397902.2	-	6	1269	c.856G>T	c.(856-858)Gag>Tag	p.E286*	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Nonsense_Mutation_p.E157*|ZNF846_ENST00000588267.1_Nonsense_Mutation_p.E157*	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E286*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCCCACACTCTTTACATTTA	0.393																																					p.E286X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G856T	19						.						68.0	72.0	71.0					19																	9868897		2089	4233	6322	9729897	SO:0001587	stop_gained	162993	exon6			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.856G>T	19.37:g.9868897C>A	ENSP00000380999:p.Glu286*	Somatic		Capture	Illumina HiSeq	Phase_I	9729897	NM_001077624	A8K0H1|B3KUP1	Nonsense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	38	6.766633	0.97821	.	.	ENSG00000196605	ENST00000397902	.	.	.	1.84	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.919	0.09236	0.0:0.5161:0.2015:0.2825	.	.	.	.	X	286	.	.	E	-	1	0	ZNF846	9729897	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	-1.320000	0.02700	-0.389000	0.07786	0.456000	0.33151	GAG		0.393	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
OLFM2	93145	broad.mit.edu	37	19	9965191	9965191	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:9965191C>T	ENST00000264833.4	-	6	1221	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Missense_Mutation_p.V268M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	346	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.V346M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGGCTGACCACGATGTTGCCC	0.652																																					p.V346M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	19						.						70.0	66.0	67.0					19																	9965191		2203	4300	6503	9826191	SO:0001583	missense	93145	exon6			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1036G>A	19.37:g.9965191C>T	ENSP00000264833:p.Val346Met	Somatic		Capture	Illumina HiSeq	Phase_I	9826191	NM_058164	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791220	0.70452	.	.	ENSG00000105088	ENST00000264833	D	0.90844	-2.74	4.36	4.36	0.52297	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.91676	0.7369	M	0.71920	2.185	0.54753	D	0.999988	D	0.54397	0.966	P	0.49953	0.627	D	0.91641	0.5327	9	.	.	.	.	14.4229	0.67196	0.0:1.0:0.0:0.0	.	346	O95897	NOE2_HUMAN	M	346	ENSP00000264833:V346M	.	V	-	1	0	OLFM2	9826191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.690000	0.61731	2.239000	0.73571	0.561000	0.74099	GTG		0.652	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
ICAM3	3385	broad.mit.edu	37	19	10449350	10449350	+	Intron	SNP	C	C	T	rs2304239	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:10449350C>T	ENST00000160262.5	-	2	552				ICAM3_ENST00000589261.1_Intron	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCGGACACGTCGACTCACTGT	0.547													C|||	47	0.00938498	0.0	0.0	5008	,	,		19733	0.0387		0.005	False		,,,				2504	0.0031				.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.	C		3,4403	6.2+/-15.9	0,3,2200	69.0	53.0	58.0			-2.9	0.0	19	dbSNP_100	58	9,8591	7.1+/-27.0	0,9,4291	no	intron	ICAM3	NM_002162.3		0,12,6491	TT,TC,CC		0.1047,0.0681,0.0923			10449350	12,12994	2203	4300	6503	10310350	SO:0001627	intron_variant	3385	.				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.343+7G>A	19.37:g.10449350C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10310350	.	Q6PD68	Intron	SNP	ENST00000160262.5	37	CCDS12235.1																																																																																				0.547	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1		
CNN1	1264	broad.mit.edu	37	19	11660622	11660622	+	3'UTR	SNP	C	C	A	rs201473881		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11660622C>A	ENST00000252456.2	+	0	1117				CNN1_ENST00000544952.1_3'UTR|CNN1_ENST00000535659.2_3'UTR|CNN1_ENST00000592923.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle						actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCACAAGGCCTTCCCTGTTT	0.637																																					.												.	.	0			.	19						.						71.0	62.0	65.0					19																	11660622		2203	4300	6503	11521622	SO:0001624	3_prime_UTR_variant	1264	.			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.*12C>A	19.37:g.11660622C>A		Somatic		Capture	Illumina HiSeq	Phase_I	11521622	.	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	3'UTR	SNP	ENST00000252456.2	37	CCDS12263.1																																																																																				0.637	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299	
ZNF833P	401898	broad.mit.edu	37	19	11796230	11796230	+	lincRNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:11796230G>T	ENST00000344893.3	+	0	2229					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E63D(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACACTGGAGAGAAACCCTATA	0.383																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.						42.0	43.0	43.0					19																	11796230		2203	4300	6503	11657230			401898	.			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796230G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11657230	.	B2RPA0	Missense_Mutation	SNP	ENST00000344893.3	37																																																																																					0.383	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691	
ZNF878	729747	broad.mit.edu	37	19	12157584	12157584	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:12157584T>C	ENST00000547628.1	-	2	141				CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCCTGAAATATCCCACATGTG	0.507																																					.												.	.	0			.	19						.						83.0	85.0	84.0					19																	12157584		2203	4300	6503	12018584	SO:0001627	intron_variant	729747	.				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.4-9A>G	19.37:g.12157584T>C		Somatic		Capture	Illumina HiSeq	Phase_I	12018584	.		Intron	SNP	ENST00000547628.1	37	CCDS45984.2																																																																																				0.507	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
EMR3	84658	broad.mit.edu	37	19	14765792	14765792	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:14765792A>C	ENST00000253673.5	-	6	678		c.e6+1		EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Splice_Site|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTATTGTCTTACCTACACTAT	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						127.0	116.0	120.0					19																	14765792		2202	4300	6502	14626792	SO:0001630	splice_region_variant	84658	.			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.577+1T>G	19.37:g.14765792A>C		Somatic		Capture	Illumina HiSeq	Phase_I	14626792	.		Splice_Site	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	8.005	0.756281	0.15846	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2926	0.37795	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EMR3	14626792	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	2.743000	0.47442	1.623000	0.50342	0.533000	0.62120	.		0.423	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	Intron
NOTCH3	4854	broad.mit.edu	37	19	15295104	15295104	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15295104A>C	ENST00000263388.2	-	16	2642		c.e16+1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.?(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCTGCACTCACTGGGGTCAC	0.542																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						59.0	45.0	50.0					19																	15295104		2203	4300	6503	15156104	SO:0001630	splice_region_variant	4854	.			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2566+1T>G	19.37:g.15295104A>C		Somatic		Capture	Illumina HiSeq	Phase_I	15156104	.	Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180886	0.38511	.	.	ENSG00000074181	ENST00000263388	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6721	0.62432	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15156104	1.000000	0.71417	0.999000	0.59377	0.157000	0.22087	8.240000	0.89813	1.873000	0.54277	0.533000	0.62120	.		0.542	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron
CYP4F12	66002	broad.mit.edu	37	19	15784549	15784549	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:15784549A>C	ENST00000550308.1	+	2	578				CYP4F12_ENST00000324632.10_Intron	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12						arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGAGTGTGACAGCAAAATGTG	0.577																																					.												.	.	0			.	19						.						40.0	43.0	42.0					19																	15784549		2173	4281	6454	15645549	SO:0001627	intron_variant	66002	.			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.198+12A>C	19.37:g.15784549A>C		Somatic		Capture	Illumina HiSeq	Phase_I	15645549	.	E7ET51|O60389|Q5JPJ7|Q9HCS1	Intron	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																				0.577	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
NWD1	284434	broad.mit.edu	37	19	16902440	16902440	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:16902440A>C	ENST00000552788.1	+	12	3213				NWD1_ENST00000524140.2_Intron|NWD1_ENST00000339803.6_Intron|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1								ATP binding (GO:0005524)	p.?(2)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTGGTAAGCACCTTTACTGA	0.418																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	19						.						96.0	81.0	86.0					19																	16902440		2203	4300	6503	16763440	SO:0001627	intron_variant	284434	.			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3213+7A>C	19.37:g.16902440A>C		Somatic		Capture	Illumina HiSeq	Phase_I	16763440	.	C9J021|Q68CT3	Intron	SNP	ENST00000552788.1	37																																																																																					0.418	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
CPAMD8	27151	broad.mit.edu	37	19	17131137	17131137	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17131137T>G	ENST00000443236.1	-	3	440				CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATCAACGGCTTACCTTGAGT	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						138.0	138.0	138.0					19																	17131137		1824	4083	5907	16992137	SO:0001627	intron_variant	27151	.			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.408+3A>C	19.37:g.17131137T>G		Somatic		Capture	Illumina HiSeq	Phase_I	16992137	.	Q8NC09|Q9ULD7	Intron	SNP	ENST00000443236.1	37	CCDS42519.1																																																																																				0.413	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
HAUS8	93323	broad.mit.edu	37	19	17179905	17179905	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17179905A>G	ENST00000253669.5	-	3	282				HAUS8_ENST00000593360.1_Intron|HAUS8_ENST00000448593.2_Intron			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						ACCTGTGGGGACACACTGTTG	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						153.0	111.0	125.0					19																	17179905		2203	4300	6503	17040905	SO:0001627	intron_variant	93323	.			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.92-9T>C	19.37:g.17179905A>G		Somatic		Capture	Illumina HiSeq	Phase_I	17040905	.	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Intron	SNP	ENST00000253669.5	37	CCDS32948.1																																																																																				0.557	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699	
MYO9B	4650	broad.mit.edu	37	19	17308594	17308594	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:17308594C>A	ENST00000594824.1	+	23	4193				MYO9B_ENST00000595618.1_Intron|MYO9B_ENST00000397274.2_Intron			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTTCTGTGATCTCGCAGGGAG	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						69.0	73.0	71.0					19																	17308594		2034	4176	6210	17169594	SO:0001627	intron_variant	4650	.				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4047-7C>A	19.37:g.17308594C>A		Somatic		Capture	Illumina HiSeq	Phase_I	17169594	.	O75314|Q9NUJ2|Q9UHN0	Intron	SNP	ENST00000594824.1	37																																																																																					0.557	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
TMEM161A	54929	broad.mit.edu	37	19	19243151	19243151	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:19243151G>T	ENST00000162044.9	-	5	508				TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Intron|TMEM161A_ENST00000592147.1_5'Flank	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A						cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGAGCAGAGAGGAAGGATACA	0.567																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						113.0	106.0	108.0					19																	19243151		2203	4300	6503	19104151	SO:0001627	intron_variant	54929	.			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.443+9C>A	19.37:g.19243151G>T		Somatic		Capture	Illumina HiSeq	Phase_I	19104151	.	B3KUE0|G5E9M6|Q7L2Y1	Intron	SNP	ENST00000162044.9	37	CCDS12393.1																																																																																				0.567	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814	
ZNF431	170959	broad.mit.edu	37	19	21350370	21350370	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:21350370G>A	ENST00000311048.7	+	4	367				ZNF431_ENST00000599296.1_Intron|ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431						cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTTTAATAAAGCAGGTGTTGC	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						44.0	49.0	47.0					19																	21350370		2203	4300	6503	21142210	SO:0001627	intron_variant	170959	.			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.224-4G>A	19.37:g.21350370G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21142210	.	A8KAK7|Q8IWC4	Splice_Site	SNP	ENST00000311048.7	37	CCDS32979.1																																																																																				0.378	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF536	9745	broad.mit.edu	37	19	31048057	31048057	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:31048057C>A	ENST00000355537.3	+	5	4042					NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536						negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.?(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCACATTTTCTTGCAGGTAA	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						288.0	250.0	263.0					19																	31048057		2203	4300	6503	35739897	SO:0001627	intron_variant	9745	.				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3896-7C>A	19.37:g.31048057C>A		Somatic		Capture	Illumina HiSeq	Phase_I	35739897	.	A2RU18	Intron	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.453	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
KIRREL2	84063	broad.mit.edu	37	19	36348235	36348235	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:36348235G>A	ENST00000360202.5	+	2	259				NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCTGCCCCGAACTCTCCTA	0.667																																					.												.	.	0			.	19						.						43.0	51.0	48.0					19																	36348235		2199	4280	6479	41040075	SO:0001627	intron_variant	84063	.			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.62-12G>A	19.37:g.36348235G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41040075	.	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Intron	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																				0.667	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
CATSPERG	57828	broad.mit.edu	37	19	38855700	38855700	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:38855700G>T	ENST00000409235.3	+	22	2671		c.e22-1		AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_Splice_Site|CATSPERG_ENST00000410018.1_Splice_Site	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma						cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCTACCCACAGGTGGTGGGTT	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						80.0	81.0	81.0					19																	38855700		2203	4300	6503	43547540	SO:0001630	splice_region_variant	57828	.			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2557-1G>T	19.37:g.38855700G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43547540	.	A6NEG6|Q659E1	Splice_Site	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801875	0.31869	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5625	0.56291	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPERG	43547540	1.000000	0.71417	0.898000	0.35279	0.011000	0.07611	4.168000	0.58216	2.341000	0.79615	0.561000	0.74099	.		0.612	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	Intron
HNRNPL	3191	broad.mit.edu	37	19	39328227	39328227	+	Intron	SNP	G	G	A	rs373614187		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:39328227G>A	ENST00000221419.5	-	11	1982				HNRNPL_ENST00000600873.1_Intron|AC104534.3_ENST00000594769.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGCACACTCGACTCACTTTT	0.473																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	19						.	G	,	0,4406		0,0,2203	65.0	61.0	62.0		,	-10.3	0.0	19		62	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron	HNRNPL	NM_001005335.1,NM_001533.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	39328227	1,13005	2203	4300	6503	44020067	SO:0001627	intron_variant	3191	.			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1615+6C>T	19.37:g.39328227G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44020067	.	A6ND69|A6NIT8|Q9H3P3	Intron	SNP	ENST00000221419.5	37	CCDS33015.1																																																																																				0.473	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
MIA	8190	broad.mit.edu	37	19	41281585	41281585	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:41281585G>A	ENST00000263369.3	+	1	293				MIA_ENST00000594436.1_Intron|MIA-RAB4B_ENST00000600729.1_Intron|RAB4B_ENST00000594800.1_5'Flank|MIA_ENST00000597784.1_Intron|RAB4B-EGLN2_ENST00000594136.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity						cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		GTAAGAATGGGGAGGGGAGAA	0.602																																					.												.	.	0			.	19						.						76.0	70.0	72.0					19																	41281585		2203	4300	6503	45973425	SO:0001627	intron_variant	8190	.			X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.127+11G>A	19.37:g.41281585G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45973425	.	Q6FHV3	Intron	SNP	ENST00000263369.3	37	CCDS12566.1																																																																																				0.602	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1		
ZNF83	55769	broad.mit.edu	37	19	53100401	53100401	+	Intron	SNP	G	G	A	rs370474816		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:53100401G>A	ENST00000600714.1	-	6	565				CTD-3099C6.11_ENST00000596451.1_RNA|ZNF83_ENST00000601257.1_Intron|ZNF137P_ENST00000597158.1_RNA			P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTTTATCAGCGAACTCATACT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		22920	0.0		0.0	False		,,,				2504	0.001				.												.	.	0			.	19						.	G		0,4306		0,0,2153	36.0	38.0	37.0			-3.2	0.0	19		37	2,8554		0,2,4276	no	intergenic				0,2,6429	AA,AG,GG		0.0234,0.0,0.0155			53100401	2,12860	2153	4278	6431	57792213	SO:0001627	intron_variant	7696	.			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000600714.1:c.283-2844C>T	19.37:g.53100401G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57792213	.	A8MT75|Q3ZCX0|Q6PI08	RNA	SNP	ENST00000600714.1	37																																																																																					0.368	ZNF83-017	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463754.1	NM_018300	
MIR526B	574468	broad.mit.edu	37	19	54197739	54197739	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54197739C>T	ENST00000384848.1	+	0	83				MIR519B_ENST00000385090.1_RNA	NR_030190.1				microRNA 526b																		AGAAAAGCAACGTTGTAGTTG	0.388																																					.												.	.	0			.	19						.						125.0	114.0	117.0					19																	54197739		1568	3582	5150	58889551			0	.					19q13.42	2011-09-12		2008-12-18	ENSG00000207580	ENSG00000207580		"""ncRNAs / Micro RNAs"""	32100	non-coding RNA	RNA, micro				MIRN526B			Standard	NR_030190		Approved	hsa-mir-526b	uc021uzt.1				19.37:g.54197739C>T		Somatic		Capture	Illumina HiSeq	Phase_I	58889551	.		IGR	SNP	ENST00000384848.1	37																																																																																					0.388	MIR526B-201	KNOWN	basic	miRNA	miRNA		NR_030190	
MIR520D	574482	broad.mit.edu	37	19	54224374	54224374	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54224374C>A	ENST00000385002.1	+	0	87				MIR517B_ENST00000385102.1_RNA|MIR520G_ENST00000385064.1_RNA|RNU6-803P_ENST00000516034.1_RNA	NR_030204.1				microRNA 520d																		AAGAAAAGATCGTGCATCCCT	0.408																																					.												.	.	0			.	19						.						230.0	202.0	211.0					19																	54224374		1568	3582	5150	58916186			0	.					19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54224374C>A		Somatic		Capture	Illumina HiSeq	Phase_I	58916186	.		IGR	SNP	ENST00000385002.1	37																																																																																					0.408	MIR520D-201	KNOWN	basic	miRNA	miRNA		NR_030204	
PRKCG	5582	broad.mit.edu	37	19	54392885	54392885	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54392885C>T	ENST00000263431.3	+	4	567				PRKCG_ENST00000540413.1_Intron|PRKCG_ENST00000536044.1_Intron|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTCTTCTCTGCCCCCAGGACC	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						47.0	43.0	44.0					19																	54392885		2203	4300	6503	59084697	SO:0001627	intron_variant	5582	.			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.286-7C>T	19.37:g.54392885C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59084697	.	B7Z8Q0	Intron	SNP	ENST00000263431.3	37	CCDS12867.1																																																																																				0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
PRKCG	5582	broad.mit.edu	37	19	54403483	54403483	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:54403483G>A	ENST00000263431.3	+	12	1563				PRKCG_ENST00000540413.1_Intron|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCACTTCTCCGCAGGACCGCC	0.542																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						72.0	72.0	72.0					19																	54403483		2203	4300	6503	59095295	SO:0001627	intron_variant	5582	.			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1282-4G>A	19.37:g.54403483G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59095295	.	B7Z8Q0	Intron	SNP	ENST00000263431.3	37	CCDS12867.1																																																																																				0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
KIR3DX1	90011	broad.mit.edu	37	19	55045206	55045206	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:55045206A>C	ENST00000335056.3	+	3	364	c.326A>C	c.(325-327)aAc>aCc	p.N109T				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	109	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.N109T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCTGAGAGCAACTCCCTGAAG	0.552																																					.	Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.						84.0	86.0	85.0					19																	55045206		2114	4248	6362	59737018	SO:0001583	missense	90011	.			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.326A>C	19.37:g.55045206A>C	ENSP00000335388:p.Asn109Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59737018	.	B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37		.	.	.	.	.	.	.	.	.	.	A	8.111	0.778873	0.16120	.	.	ENSG00000104970	ENST00000335056	T	0.00824	5.65	3.13	0.852	0.18995	.	.	.	.	.	T	0.01222	0.0040	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48525	-0.9028	6	0.87932	D	0	.	3.3809	0.07254	0.6271:0.2365:0.1364:0.0	.	.	.	.	T	109	ENSP00000335388:N109T	ENSP00000221567:N109T	N	+	2	0	KIR3DX1	59737018	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.047000	0.11963	-0.009000	0.14296	-0.290000	0.09829	AAC		0.552	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	
NLRP11	204801	broad.mit.edu	37	19	56297243	56297243	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:56297243G>T	ENST00000589093.1	-	10	2949				NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000443188.1_Intron|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000592953.1_Intron			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAGCCTGAAGGAAAACAGAG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						57.0	58.0	58.0					19																	56297243		2203	4300	6503	60989055	SO:0001627	intron_variant	204801	.			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2856-6C>A	19.37:g.56297243G>T		Somatic		Capture	Illumina HiSeq	Phase_I	60989055	.	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Intron	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
ZNF773	374928	broad.mit.edu	37	19	58024428	58024428	+	Missense_Mutation	SNP	C	C	T	rs377235876		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:58024428C>T	ENST00000599847.1	+	5	488	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	ZNF773_ENST00000593916.1_Missense_Mutation_p.R100C			Q6PK81	ZN773_HUMAN	zinc finger protein 773	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R139C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CGAACAGggacgtgagtgaag	0.488																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.	C		0,3136		0,0,1568	28.0	30.0	30.0				0.1	19		30	3,7161		0,3,3579	no	intergenic				0,3,5147	TT,TC,CC		0.0419,0.0,0.0291			58024428	3,10297	1568	3582	5150	62716240	SO:0001583	missense	374928	.			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000599847.1:c.346C>T	19.37:g.58024428C>T	ENSP00000468846:p.Arg116Cys	Somatic		Capture	Illumina HiSeq	Phase_I	62716240	.	Q96DL8	RNA	SNP	ENST00000599847.1	37		.	.	.	.	.	.	.	.	.	.	C	1.283	-0.609789	0.03690	0.0	4.19E-4	ENSG00000152439	ENST00000332030	.	.	.	.	.	.	.	.	.	.	.	T	0.48429	0.1499	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58775	-0.7577	2	0.87932	D	0	.	.	.	.	.	.	.	.	C	139	.	ENSP00000329020:R139C	R	+	1	0	ZNF773	62716240	0.064000	0.20934	0.059000	0.19551	0.060000	0.15804	0.116000	0.15561	0.119000	0.18210	0.121000	0.15741	CGT		0.488	ZNF773-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466474.1	NM_198542	
SLC27A5	10998	broad.mit.edu	37	19	59012040	59012040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr19:59012040C>T	ENST00000263093.2	-	5	1325	c.1216G>A	c.(1216-1218)Gca>Aca	p.A406T	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A322T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	406					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A406T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TTGCCCATTGCCAGGCGGACT	0.567																																					p.A406T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	19						.						96.0	90.0	92.0					19																	59012040		2203	4300	6503	63703852	SO:0001583	missense	10998	exon5			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1216G>A	19.37:g.59012040C>T	ENSP00000263093:p.Ala406Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63703852	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945798	0.92593	.	.	ENSG00000083807	ENST00000263093	T	0.40476	1.03	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.179514	0.48286	D	0.000189	T	0.72708	0.3494	M	0.93678	3.445	0.43010	D	0.994542	D	0.89917	1.0	D	0.85130	0.997	T	0.80471	-0.1368	10	0.87932	D	0	-28.9321	14.6351	0.68682	0.0:1.0:0.0:0.0	.	406	Q9Y2P5	S27A5_HUMAN	T	406	ENSP00000263093:A406T	ENSP00000263093:A406T	A	-	1	0	SLC27A5	63703852	1.000000	0.71417	0.532000	0.27989	0.714000	0.41099	6.872000	0.75536	2.603000	0.88011	0.563000	0.77884	GCA		0.567	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254	
MIA3	375056	broad.mit.edu	37	1	222803476	222803477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222803476_222803477insA	ENST00000344922.5	+	4	2939_2940	c.2914_2915insA	c.(2914-2916)gaafs	p.E972fs	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Frame_Shift_Ins_p.E972fs|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	972					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V974fs*4(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTATAATATGGAAAAAGTCCTA	0.431																																					p.E972fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2914_2915insA	1						.																																			220870100	SO:0001589	frameshift_variant	375056	exon4				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2919dupA	1.37:g.222803481_222803481dupA	ENSP00000340900:p.Glu972fs	Somatic		Capture	Illumina HiSeq	Phase_I	220870099	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Ins	INS	ENST00000344922.5	37	CCDS41470.1																																																																																				0.431	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
KIAA0754	643314	broad.mit.edu	37	1	39879036	39879037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39879036_39879037insC	ENST00000530275.1	+	1	2886_2887	c.2691_2692insC	c.(2692-2694)cccfs	p.P898fs	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	898	Ala-rich.							p.E901fs*190(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCTGCAGTGCCCCCCCCAGA	0.728																																					p.V1033fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3099_3100insC	1						.		,,	29,3037		1,27,1505					,,	-0.1	0.0			5	57,6853		4,49,3402	no	intron,frameshift,intron	MACF1,KIAA0754	NM_033044.3,NM_015038.1,NM_012090.4	,,	5,76,4907	A1A1,A1R,RR		0.8249,0.9459,0.8621	,,	,,		86,9890				39651624	SO:0001589	frameshift_variant	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2699dupC	1.37:g.39879044_39879044dupC	ENSP00000431179:p.Pro898fs	Somatic		Capture	Illumina HiSeq	Phase_I	39651623	NM_015038	E9PMC2|Q6ZSB2	Frame_Shift_Ins	INS	ENST00000530275.1	37																																																																																					0.728	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
MIER1	57708	broad.mit.edu	37	1	67442325	67442326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67442325_67442326insA	ENST00000355356.3	+	11	1139_1140	c.990_991insA	c.(991-993)aaafs	p.K331fs	MIER1_ENST00000355977.6_Frame_Shift_Ins_p.K268fs|MIER1_ENST00000371014.1_Frame_Shift_Ins_p.K384fs|MIER1_ENST00000401041.1_Frame_Shift_Ins_p.K384fs|MIER1_ENST00000371016.1_Frame_Shift_Ins_p.K348fs|MIER1_ENST00000357692.2_Frame_Shift_Ins_p.K348fs|MIER1_ENST00000371018.3_Frame_Shift_Ins_p.K348fs|MIER1_ENST00000401042.3_Frame_Shift_Ins_p.K331fs	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	331	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S333fs*2(1)|p.S386fs*2(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATTACATGTGGAAAAAATCTGA	0.332																																					p.W383fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1149_1150insA	1						.																																			67214914	SO:0001589	frameshift_variant	57708	exon12				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.996dupA	1.37:g.67442331_67442331dupA	ENSP00000347514:p.Lys331fs	Somatic		Capture	Illumina HiSeq	Phase_I	67214913	NM_001077700	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Frame_Shift_Ins	INS	ENST00000355356.3	37	CCDS41348.1																																																																																				0.332	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	
OR2L3	391192	broad.mit.edu	37	1	248224377	248224377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248224377delC	ENST00000359959.3	+	1	394	c.394delC	c.(394-396)cccfs	p.P132fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I133fs*3(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTCACTATCCCATCCGCAT	0.433																																					p.P132fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.394delC	1						.						302.0	284.0	290.0					1																	248224377		2203	4300	6503	246291000	SO:0001589	frameshift_variant	391192	exon1			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.394delC	1.37:g.248224377delC	ENSP00000353044:p.Pro132fs	Somatic		Capture	Illumina HiSeq	Phase_I	246291000	NM_001004687	B9EH44	Frame_Shift_Del	DEL	ENST00000359959.3	37	CCDS31104.1																																																																																				0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
AGL	178	broad.mit.edu	37	1	100346935	100346935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:100346935G>A	ENST00000294724.4	+	16	2567	c.2089G>A	c.(2089-2091)Ggc>Agc	p.G697S	AGL_ENST00000370165.3_Missense_Mutation_p.G697S|AGL_ENST00000361302.3_Missense_Mutation_p.G681S|AGL_ENST00000361522.4_Missense_Mutation_p.G680S|AGL_ENST00000361915.3_Missense_Mutation_p.G697S|AGL_ENST00000370163.3_Missense_Mutation_p.G697S|AGL_ENST00000370161.2_Missense_Mutation_p.G681S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	697					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.G697S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTTCCAAAGCGGCATTATTGC	0.398																																					p.G680S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2038A	1						.						109.0	111.0	110.0					1																	100346935		2203	4300	6503	100119523	SO:0001583	missense	178	exon14			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2089G>A	1.37:g.100346935G>A	ENSP00000294724:p.Gly697Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100119523	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870424	0.91587	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.7	5.7	0.88788	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.80299	-0.1441	10	0.87932	D	0	.	20.1979	0.98245	0.0:0.0:1.0:0.0	.	680;681;697	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	697;697;697;697;681;681;680	ENSP00000355106:G697S;ENSP00000359184:G697S;ENSP00000359182:G697S;ENSP00000294724:G697S;ENSP00000354971:G681S;ENSP00000359180:G681S;ENSP00000354635:G680S	ENSP00000294724:G697S	G	+	1	0	AGL	100119523	1.000000	0.71417	0.947000	0.38551	0.737000	0.42083	9.075000	0.94004	2.846000	0.97976	0.650000	0.86243	GGC		0.398	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
UBE4B	10277	broad.mit.edu	37	1	10163147	10163147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:10163147G>T	ENST00000253251.8	+	5	1416	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	UBE4B_ENST00000377157.3_Nonsense_Mutation_p.E77*|UBE4B_ENST00000343090.6_Nonsense_Mutation_p.E193*					ubiquitination factor E4B									p.E193*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAACCCAAAAGAAGGTAGGAA	0.443																																					p.E193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G577T	1						.						87.0	84.0	85.0					1																	10163147		2203	4300	6503	10085734	SO:0001587	stop_gained	10277	exon5			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.577G>T	1.37:g.10163147G>T	ENSP00000253251:p.Glu193*	Somatic		Capture	Illumina HiSeq	Phase_I	10085734	NM_001105562		Nonsense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	46	12.302072	0.99655	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.98	4.13	0.48395	.	0.251240	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-21.7358	10.0499	0.42210	0.2037:0.0:0.7963:0.0	.	.	.	.	X	193;77;193	.	ENSP00000253251:E193X	E	+	1	0	UBE4B	10085734	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.685000	0.84117	0.874000	0.35823	0.650000	0.86243	GAA		0.443	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
TRMT13	54482	broad.mit.edu	37	1	100606424	100606424	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:100606424A>G	ENST00000370141.2	+	7	524	c.518A>G	c.(517-519)aAc>aGc	p.N173S		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	173					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.N173S(1)									ATTTTAGGTAACATTGAAAAT	0.328																																					p.N173S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A518G	1						.						89.0	90.0	90.0					1																	100606424		2203	4300	6503	100379012	SO:0001583	missense	54482	exon7			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.518A>G	1.37:g.100606424A>G	ENSP00000359160:p.Asn173Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100379012	NM_019083	Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139821	0.77775	.	.	ENSG00000122435	ENST00000370141	T	0.49432	0.78	5.78	5.78	0.91487	Methyltransferase TRM13 (1);	0.127621	0.64402	D	0.000001	T	0.61211	0.2329	M	0.84948	2.725	0.80722	D	1	P;D	0.62365	0.72;0.991	P;P	0.60012	0.515;0.867	T	0.64041	-0.6500	10	0.35671	T	0.21	-20.0546	16.1084	0.81241	1.0:0.0:0.0:0.0	.	159;173	B4DQS9;Q9NUP7	.;TRM13_HUMAN	S	173	ENSP00000359160:N173S	ENSP00000359160:N173S	N	+	2	0	CCDC76	100379012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.286000	0.89916	2.207000	0.71202	0.460000	0.39030	AAC		0.328	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083	
COL11A1	1301	broad.mit.edu	37	1	103343614	103343614	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103343614C>T	ENST00000370096.3	-	67	5694	c.5382G>A	c.(5380-5382)aaG>aaA	p.K1794K	COL11A1_ENST00000358392.2_Silent_p.K1806K|COL11A1_ENST00000353414.4_Silent_p.K1755K|COL11A1_ENST00000512756.1_Silent_p.K1678K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1794	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K1806K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAAATCCGAACTTCTGATTCT	0.348																																					p.K1678K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5034A	1						.						108.0	104.0	106.0					1																	103343614		2203	4300	6503	103116202	SO:0001819	synonymous_variant	1301	exon65			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5382G>A	1.37:g.103343614C>T		Somatic		Capture	Illumina HiSeq	Phase_I	103116202	NM_080630	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103347269	103347269	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103347269A>C	ENST00000370096.3	-	65	5336	c.5024T>G	c.(5023-5025)tTt>tGt	p.F1675C	COL11A1_ENST00000358392.2_Missense_Mutation_p.F1687C|COL11A1_ENST00000353414.4_Missense_Mutation_p.F1636C|COL11A1_ENST00000512756.1_Missense_Mutation_p.F1559C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1675	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.F1687C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCCTCTTAAATTCACTAAA	0.353																																					p.F1559C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4676G	1						.						112.0	100.0	104.0					1																	103347269		2202	4300	6502	103119857	SO:0001583	missense	1301	exon63			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5024T>G	1.37:g.103347269A>C	ENSP00000359114:p.Phe1675Cys	Somatic		Capture	Illumina HiSeq	Phase_I	103119857	NM_080630	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316363	0.40996	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.96	4.96	0.65561	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82879	0.5133	M	0.78916	2.43	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998	D;D;D;D;D	0.76575	0.986;0.98;0.98;0.988;0.975	D	0.86037	0.1517	10	0.87932	D	0	.	14.683	0.69031	1.0:0.0:0.0:0.0	.	1559;1636;1687;1675;895	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1675;1687;1636;895;1559	ENSP00000359114:F1675C;ENSP00000351163:F1687C;ENSP00000302551:F1636C;ENSP00000426533:F1559C	ENSP00000302551:F1636C	F	-	2	0	COL11A1	103119857	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.273000	0.78527	1.885000	0.54596	0.372000	0.22366	TTT		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103484405	103484405	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103484405A>C	ENST00000370096.3	-	10	1631	c.1319T>G	c.(1318-1320)gTc>gGc	p.V440G	COL11A1_ENST00000358392.2_Missense_Mutation_p.V452G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V401G|COL11A1_ENST00000512756.1_Missense_Mutation_p.V324G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	440	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V452G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGTCCTTCGACAAGCATACC	0.333																																					p.V324G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T971G	1						.						57.0	59.0	58.0					1																	103484405		2203	4300	6503	103256993	SO:0001583	missense	1301	exon8			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1319T>G	1.37:g.103484405A>C	ENSP00000359114:p.Val440Gly	Somatic		Capture	Illumina HiSeq	Phase_I	103256993	NM_080630	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012242	0.54468	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	5.68	5.68	0.88126	.	0.236874	0.41396	D	0.000884	D	0.87767	0.6260	L	0.28400	0.85	0.58432	D	0.999998	B;B;B;B	0.30236	0.094;0.232;0.232;0.274	B;B;B;B	0.37650	0.255;0.165;0.165;0.255	D	0.87947	0.2721	10	0.54805	T	0.06	.	15.9384	0.79734	1.0:0.0:0.0:0.0	.	324;401;452;440	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	440;452;401;324;452	ENSP00000359114:V440G;ENSP00000351163:V452G;ENSP00000302551:V401G;ENSP00000426533:V324G;ENSP00000408640:V452G	ENSP00000302551:V401G	V	-	2	0	COL11A1	103256993	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	7.969000	0.87988	2.161000	0.67846	0.519000	0.50382	GTC		0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
KIF1B	23095	broad.mit.edu	37	1	10423350	10423350	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:10423350C>A	ENST00000377086.1	+	41	4516	c.4314C>A	c.(4312-4314)gtC>gtA	p.V1438V	KIF1B_ENST00000263934.6_Silent_p.V1392V|KIF1B_ENST00000377081.1_Silent_p.V1438V			O60333	KIF1B_HUMAN	kinesin family member 1B	1438					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)	p.V1392V(1)		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)		GGAATCGAGTCACTGGCATTT	0.343																																					p.V1392V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4176A	1						.						179.0	170.0	173.0					1																	10423350		2203	4300	6503	10345937	SO:0001819	synonymous_variant	23095	exon39			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.4314C>A	1.37:g.10423350C>A		Somatic		Capture	Illumina HiSeq	Phase_I	10345937	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																					0.343	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
PGD	5226	broad.mit.edu	37	1	10473223	10473223	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:10473223G>T	ENST00000270776.8	+	8	797	c.759G>T	c.(757-759)aaG>aaT	p.K253N	PGD_ENST00000538557.1_Missense_Mutation_p.K240N|PGD_ENST00000541529.1_Missense_Mutation_p.K231N	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	253					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.K253N(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	TGCTGCCAAAGATCAGGGACA	0.512																																					p.K253N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G759T	1						.						91.0	83.0	86.0					1																	10473223		2203	4300	6503	10395810	SO:0001583	missense	5226	exon8			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.759G>T	1.37:g.10473223G>T	ENSP00000270776:p.Lys253Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10395810	NM_002631	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478796	0.63849	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.46819	0.86;0.86;0.86	5.06	3.2	0.36748	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.77616	2.38	0.80722	D	1	D;B;B	0.89917	1.0;0.375;0.375	D;P;P	0.91635	0.999;0.56;0.56	T	0.66122	-0.6002	10	0.59425	D	0.04	-33.2369	9.8833	0.41247	0.2204:0.0:0.7796:0.0	.	231;253;253	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	N	231;199;253;240	ENSP00000442285:K231N;ENSP00000270776:K253N;ENSP00000437822:K240N	ENSP00000270776:K253N	K	+	3	2	PGD	10395810	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	2.660000	0.46749	0.659000	0.30945	0.637000	0.83480	AAG		0.512	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631	
COL11A1	1301	broad.mit.edu	37	1	103491087	103491087	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103491087C>T	ENST00000370096.3	-	7	1292	c.980G>A	c.(979-981)gGg>gAg	p.G327E	COL11A1_ENST00000358392.2_Missense_Mutation_p.G339E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G288E|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	327	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G339E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCATTTGTCCCAGAAACATG	0.323																																					p.G327E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	1						.						145.0	136.0	139.0					1																	103491087		2203	4300	6503	103263675	SO:0001583	missense	1301	exon7			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.980G>A	1.37:g.103491087C>T	ENSP00000359114:p.Gly327Glu	Somatic		Capture	Illumina HiSeq	Phase_I	103263675	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894903	0.02491	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87650	-2.28;-0.42;-2.26;-0.5	5.23	5.23	0.72850	.	0.197942	0.46442	D	0.000296	T	0.59945	0.2231	N	0.25060	0.705	0.28962	N	0.889777	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.10450	0.005;0.005;0.002	T	0.33599	-0.9862	10	0.02654	T	1	.	12.9883	0.58604	0.0:0.9151:0.0:0.0849	.	288;339;327	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	E	327;339;288;339	ENSP00000359114:G327E;ENSP00000351163:G339E;ENSP00000302551:G288E;ENSP00000408640:G339E	ENSP00000302551:G288E	G	-	2	0	COL11A1	103263675	1.000000	0.71417	0.045000	0.18777	0.217000	0.24651	2.919000	0.48836	2.606000	0.88127	0.637000	0.83480	GGG		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
AMY2A	279	broad.mit.edu	37	1	104163174	104163174	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:104163174T>G	ENST00000414303.2	+	5	810	c.746T>G	c.(745-747)gTa>gGa	p.V249G		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	249					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.V249G(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TTCTACTAGGTAATTGATCTG	0.338																																					p.V249G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T746G	1						.						116.0	130.0	125.0					1																	104163174		2202	4271	6473	103964697	SO:0001630	splice_region_variant	279	exon5			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.745-1T>G	1.37:g.104163174T>G		Somatic		Capture	Illumina HiSeq	Phase_I	103964697	NM_000699	B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	CCDS783.1	.	.	.	.	.	.	.	.	.	.	t	16.40	3.112617	0.56398	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	D	0.98747	-5.11	2.96	2.96	0.34315	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.066593	0.64402	D	0.000014	D	0.99426	0.9797	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98395	1.0565	10	0.87932	D	0	.	11.1638	0.48531	0.0:0.0:0.0:1.0	.	249	P04746	AMYP_HUMAN	G	249	ENSP00000397582:V249G	ENSP00000377509:V249G	V	+	2	0	AMY2A	103964697	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	7.496000	0.81526	1.339000	0.45563	0.254000	0.18369	GTA		0.338	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699	Missense_Mutation
PRMT6	55170	broad.mit.edu	37	1	107599880	107599880	+	Silent	SNP	C	C	T	rs377462998	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:107599880C>T	ENST00000370078.1	+	1	580	c.543C>T	c.(541-543)ggC>ggT	p.G181G	PRMT6_ENST00000361318.5_Silent_p.G122G			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	181	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.G122G(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGAAGGAGGGCGGTCTTCTCC	0.637																																					p.G181G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	1						.						36.0	41.0	39.0					1																	107599880		2087	4213	6300	107401403	SO:0001819	synonymous_variant	55170	exon1			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.543C>T	1.37:g.107599880C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107401403	NM_018137	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831159	0.32329	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	3.59	0.41128	.	.	.	.	.	T	0.49881	0.1583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57631	-0.7778	5	0.87932	D	0	-26.2127	5.8572	0.18727	0.3466:0.5654:0.0:0.0881	.	.	.	.	W	75	.	ENSP00000440829:R75W	R	+	1	2	PRMT6	107401403	0.998000	0.40836	1.000000	0.80357	0.831000	0.47069	0.464000	0.21988	1.280000	0.44463	0.442000	0.29010	CGG		0.637	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137	
VAV3	10451	broad.mit.edu	37	1	108145748	108145748	+	Missense_Mutation	SNP	C	C	T	rs139894223		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:108145748C>T	ENST00000370056.4	-	23	2327	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	VAV3_ENST00000415432.2_Missense_Mutation_p.E125K|VAV3_ENST00000544443.1_Missense_Mutation_p.E89K|VAV3_ENST00000527011.1_Missense_Mutation_p.E685K|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	685	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.E685K(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTAATAAGTTCGGTCTCTGCT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18485	0.001		0.0	False		,,,				2504	0.0				p.E125K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G373A	1						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	147.0	134.0	138.0		373,2053	5.8	1.0	1	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	VAV3	NM_001079874.1,NM_006113.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	125/288,685/848	108145748	1,13005	2203	4300	6503	107947271	SO:0001583	missense	10451	exon6			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2053G>A	1.37:g.108145748C>T	ENSP00000359073:p.Glu685Lys	Somatic		Capture	Illumina HiSeq	Phase_I	107947271	NM_001079874	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.800258	0.90538	0.0	1.16E-4	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.82	5.82	0.92795	SH2 motif (5);	0.050734	0.85682	D	0.000000	T	0.82051	0.4953	N	0.17312	0.475	0.80722	D	1	D;P;P;D	0.71674	0.998;0.504;0.885;0.997	D;B;P;P	0.65987	0.94;0.19;0.584;0.8	T	0.77707	-0.2487	10	0.06099	T	0.92	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	685;89;685;125	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	K	685;685;89;125	ENSP00000359073:E685K;ENSP00000432540:E685K;ENSP00000446404:E89K;ENSP00000394897:E125K	ENSP00000359073:E685K	E	-	1	0	VAV3	107947271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.727000	0.68523	2.756000	0.94617	0.563000	0.77884	GAA		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
VAV3	10451	broad.mit.edu	37	1	108160213	108160213	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:108160213A>C	ENST00000370056.4	-	21	2230	c.1956T>G	c.(1954-1956)agT>agG	p.S652R	VAV3_ENST00000415432.2_Missense_Mutation_p.S92R|VAV3_ENST00000544443.1_Missense_Mutation_p.S56R|VAV3_ENST00000527011.1_Missense_Mutation_p.S652R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	652	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.S652R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGACTGCATCACTTGGAAAAA	0.343																																					p.S92R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T276G	1						.						85.0	87.0	87.0					1																	108160213		2203	4300	6503	107961736	SO:0001583	missense	10451	exon4			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1956T>G	1.37:g.108160213A>C	ENSP00000359073:p.Ser652Arg	Somatic		Capture	Illumina HiSeq	Phase_I	107961736	NM_001079874	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.40|19.40	3.819578|3.819578	0.71028|0.71028	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432|ENST00000529809	T;T;T;T|.	0.08458|.	3.09;3.09;3.09;3.09|.	5.75|5.75	2.15|2.15	0.27550|0.27550	Src homology-3 domain (3);Variant SH3 (1);|.	0.115926|.	0.85682|.	D|.	0.000000|.	T|T	0.44350|0.44350	0.1289|0.1289	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	P;P;P;D|.	0.61697|.	0.874;0.834;0.745;0.99|.	P;P;P;D|.	0.64776|.	0.762;0.703;0.71;0.929|.	T|T	0.34925|0.34925	-0.9809|-0.9809	10|5	0.59425|.	D|.	0.04|.	.|.	9.4295|9.4295	0.38601|0.38601	0.796:0.0:0.204:0.0|0.796:0.0:0.204:0.0	.|.	652;56;652;92|.	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3|.	.;.;VAV3_HUMAN;.|.	R|G	652;652;56;92|180	ENSP00000359073:S652R;ENSP00000432540:S652R;ENSP00000446404:S56R;ENSP00000394897:S92R|.	ENSP00000359073:S652R|.	S|V	-|-	3|2	2|0	VAV3|VAV3	107961736|107961736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.326000|2.326000	0.43849|0.43849	0.421000|0.421000	0.25980|0.25980	0.528000|0.528000	0.53228|0.53228	AGT|GTG		0.343	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
VAV3	10451	broad.mit.edu	37	1	108417636	108417636	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:108417636G>T	ENST00000370056.4	-	2	482	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	VAV3_ENST00000371846.4_Missense_Mutation_p.L5I|VAV3_ENST00000527011.1_Missense_Mutation_p.L70I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	70	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.L70I(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCAAACAGAGAAACTGAGGA	0.388																																					p.L70I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208A	1						.						76.0	74.0	74.0					1																	108417636		2203	4300	6503	108219159	SO:0001583	missense	10451	exon2			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.208C>A	1.37:g.108417636G>T	ENSP00000359073:p.Leu70Ile	Somatic		Capture	Illumina HiSeq	Phase_I	108219159	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.075633|5.075633	0.94000|0.94000	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	T|T;T;T	0.37752|0.41065	1.18|1.01;1.01;1.01	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Calponin homology domain (5);	.|0.070231	.|0.64402	.|D	.|0.000017	T|T	0.58495|0.58495	0.2126|0.2126	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.45768	.|0.384;0.393;0.866	.|P;P;D	.|0.67103	.|0.888;0.723;0.949	T|T	0.55872|0.55872	-0.8072|-0.8072	7|10	0.87932|0.72032	D|D	0|0.01	.|.	19.2272|19.2272	0.93822|0.93822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|70;70;70	.|B7ZLR1;E9PQ97;Q9UKW4	.|.;.;VAV3_HUMAN	L|I	64|70;70;5	ENSP00000433559:F64L|ENSP00000359073:L70I;ENSP00000432540:L70I;ENSP00000360912:L5I	ENSP00000433559:F64L|ENSP00000359073:L70I	F|L	-|-	3|1	2|0	VAV3|VAV3	108219159|108219159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	6.146000|6.146000	0.71777|0.71777	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	TTC|CTC		0.388	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
CLCC1	23155	broad.mit.edu	37	1	109482715	109482715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109482715G>T	ENST00000369971.2	-	8	975	c.846C>A	c.(844-846)taC>taA	p.Y282*	CLCC1_ENST00000302500.4_Nonsense_Mutation_p.Y161*|CLCC1_ENST00000356970.2_Nonsense_Mutation_p.Y282*|CLCC1_ENST00000415331.1_Nonsense_Mutation_p.Y232*|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Nonsense_Mutation_p.Y161*|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000369970.3_Nonsense_Mutation_p.Y232*|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	282						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.Y232*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGAGCTCATAGTATTTTTGGC	0.343																																					p.Y282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C846A	1						.						80.0	76.0	77.0					1																	109482715		2203	4300	6503	109284238	SO:0001587	stop_gained	23155	exon8			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.846C>A	1.37:g.109482715G>T	ENSP00000358988:p.Tyr282*	Somatic		Capture	Illumina HiSeq	Phase_I	109284238	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Nonsense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	37	6.106457	0.97286	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369970;ENST00000302500	.	.	.	5.38	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0307	10.755	0.46232	0.2552:0.0:0.7448:0.0	.	.	.	.	X	282;282;232;161;232;161	.	ENSP00000306552:Y161X	Y	-	3	2	CLCC1	109284238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.482000	0.35486	1.271000	0.44313	0.585000	0.79938	TAC		0.343	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127	
KIAA1324	57535	broad.mit.edu	37	1	109716354	109716354	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109716354T>C	ENST00000369939.3	+	7	1030	c.847T>C	c.(847-849)Tat>Cat	p.Y283H	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	283					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.Y283H(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACCTGGCACGTATGCAGACAA	0.507																																					p.Y283H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T847C	1						.						83.0	84.0	84.0					1																	109716354		2203	4300	6503	109517877	SO:0001583	missense	57535	exon7			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.847T>C	1.37:g.109716354T>C	ENSP00000358955:p.Tyr283His	Somatic		Capture	Illumina HiSeq	Phase_I	109517877	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	t	6.833	0.522942	0.13066	.	.	ENSG00000116299	ENST00000369939	T	0.37235	1.21	5.42	4.3	0.51218	Growth factor, receptor (1);	0.191854	0.47093	D	0.000247	T	0.23210	0.0561	M	0.75777	2.31	0.53005	D	0.999964	B;B	0.15930	0.015;0.012	B;B	0.16289	0.015;0.01	T	0.08848	-1.0702	10	0.51188	T	0.08	-5.6052	10.8976	0.47031	0.0:0.0743:0.0:0.9257	.	283;283	Q6UXG2-4;Q6UXG2	.;K1324_HUMAN	H	283	ENSP00000358955:Y283H	ENSP00000358955:Y283H	Y	+	1	0	KIAA1324	109517877	0.987000	0.35691	0.004000	0.12327	0.085000	0.17905	4.735000	0.62051	0.902000	0.36520	-0.262000	0.10625	TAT		0.507	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
SARS	6301	broad.mit.edu	37	1	109778616	109778616	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109778616C>T	ENST00000234677.2	+	8	1062	c.987C>T	c.(985-987)taC>taT	p.Y329Y	SARS_ENST00000369923.4_Silent_p.Y329Y	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	329					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.Y329Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGTTTGTGTACTCATCACCCC	0.483																																					p.Y329Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	1						.						96.0	89.0	91.0					1																	109778616		2203	4300	6503	109580139	SO:0001819	synonymous_variant	6301	exon8			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.987C>T	1.37:g.109778616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109580139	NM_006513	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	CCDS795.1																																																																																				0.483	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513	
CELSR2	1952	broad.mit.edu	37	1	109812412	109812412	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109812412C>T	ENST00000271332.3	+	22	7138	c.7077C>T	c.(7075-7077)ttC>ttT	p.F2359F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2359	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F2359F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACGAGCTTCGCTGTGCTCA	0.662																																					p.F2359F	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7077T	1						.						105.0	110.0	108.0					1																	109812412		2203	4300	6503	109613935	SO:0001819	synonymous_variant	1952	exon22			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7077C>T	1.37:g.109812412C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109613935	NM_001408	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
PSMA5	5686	broad.mit.edu	37	1	109952611	109952611	+	Missense_Mutation	SNP	T	T	G	rs375404309		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109952611T>G	ENST00000271308.4	-	8	607	c.587A>C	c.(586-588)aAg>aCg	p.K196T	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.K138T	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.K196T(1)		kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GAGTGAAGACTTGATGGCTTC	0.353																																					p.K138T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A413C	1						.						195.0	197.0	196.0					1																	109952611		2203	4300	6503	109754134	SO:0001583	missense	5686	exon8			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.587A>C	1.37:g.109952611T>G	ENSP00000271308:p.Lys196Thr	Somatic		Capture	Illumina HiSeq	Phase_I	109754134	NM_001199774	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	CCDS799.1	.	.	.	.	.	.	.	.	.	.	t	12.19	1.864065	0.32884	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	T;T	0.24538	1.85;1.85	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	L	0.45422	1.42	0.58432	D	0.999999	B	0.02656	0.0	B	0.15484	0.013	T	0.09058	-1.0692	10	0.13470	T	0.59	-7.678	15.0492	0.71854	0.0:0.0:0.0:1.0	.	196	P28066	PSA5_HUMAN	T	138;196	ENSP00000440618:K138T;ENSP00000271308:K196T	ENSP00000271308:K196T	K	-	2	0	PSMA5	109754134	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.997000	0.88414	2.189000	0.69895	0.456000	0.33151	AAG		0.353	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790	
SYPL2	284612	broad.mit.edu	37	1	110022017	110022017	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110022017C>A	ENST00000369872.3	+	6	882	c.666C>A	c.(664-666)aaC>aaA	p.N222K	SYPL2_ENST00000401021.3_Missense_Mutation_p.N158K	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	222	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.N222K(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCTTTATCAACTTCTTCCTGT	0.567																																					p.N222K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C666A	1						.						157.0	162.0	160.0					1																	110022017		1904	4137	6041	109823540	SO:0001583	missense	284612	exon6			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.666C>A	1.37:g.110022017C>A	ENSP00000358888:p.Asn222Lys	Somatic		Capture	Illumina HiSeq	Phase_I	109823540	NM_001040709	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836944	0.50951	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T	0.28255	1.62	5.82	4.85	0.62838	Marvel (1);MARVEL-like domain (1);	0.174116	0.64402	D	0.000011	T	0.20700	0.0498	M	0.78223	2.4	0.24255	N	0.995308	B;B	0.21452	0.049;0.056	B;B	0.26202	0.018;0.067	T	0.09037	-1.0693	10	0.87932	D	0	.	8.8889	0.35420	0.0:0.7692:0.1518:0.079	.	158;222	B4DYR7;Q5VXT5	.;SYPL2_HUMAN	K	158;222	ENSP00000358888:N222K	ENSP00000358888:N222K	N	+	3	2	SYPL2	109823540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.585000	0.36600	2.752000	0.94435	0.655000	0.94253	AAC		0.567	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603	
ATXN7L2	127002	broad.mit.edu	37	1	110030320	110030320	+	Silent	SNP	C	C	T	rs369959556		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110030320C>T	ENST00000369870.3	+	5	609	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	198								p.I198I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGAGAACATCGAGATCATCC	0.602																																					p.I198I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	66.0	70.0	69.0		594	0.2	0.6	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATXN7L2	NM_153340.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		198/723	110030320	2,13004	2203	4300	6503	109831843	SO:0001819	synonymous_variant	127002	exon5			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.594C>T	1.37:g.110030320C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109831843	NM_153340		Silent	SNP	ENST00000369870.3	37	CCDS30794.1																																																																																				0.602	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340	
ATXN7L2	127002	broad.mit.edu	37	1	110031545	110031545	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110031545C>T	ENST00000369870.3	+	7	875	c.860C>T	c.(859-861)gCc>gTc	p.A287V		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	287	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.							p.A287V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCTGAAGGCCAACTCCCGC	0.622																																					p.A287V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860T	1						.						40.0	42.0	41.0					1																	110031545		2203	4300	6503	109833068	SO:0001583	missense	127002	exon7			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.860C>T	1.37:g.110031545C>T	ENSP00000358886:p.Ala287Val	Somatic		Capture	Illumina HiSeq	Phase_I	109833068	NM_153340		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392612	0.83011	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35789	1.29	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.64402	D	0.000011	T	0.38026	0.1025	L	0.36672	1.1	0.80722	D	1	D	0.56746	0.977	P	0.60012	0.867	T	0.05616	-1.0874	10	0.44086	T	0.13	-12.6319	16.7934	0.85595	0.0:1.0:0.0:0.0	.	287	Q5T6C5	AT7L2_HUMAN	V	287	ENSP00000358886:A287V	ENSP00000358886:A287V	A	+	2	0	ATXN7L2	109833068	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.929000	0.48916	2.698000	0.92095	0.561000	0.74099	GCC		0.622	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340	
GSTM2	2946	broad.mit.edu	37	1	110213937	110213937	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110213937C>G	ENST00000241337.4	+	6	439	c.389C>G	c.(388-390)gCa>gGa	p.A130G	GSTM2_ENST00000442650.1_Missense_Mutation_p.A130G|GSTM2_ENST00000369829.2_Missense_Mutation_p.A130G|GSTM2_ENST00000414179.2_Missense_Mutation_p.A26G|GSTM2_ENST00000369831.2_Missense_Mutation_p.A130G|GSTM2_ENST00000460717.3_Missense_Mutation_p.A130G|GSTM2_ENST00000369827.3_Missense_Mutation_p.A128G	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	130	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A130G(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TACCTGCAGGCACTCCCTGAA	0.532																																					p.A130G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389G	1						.						87.0	84.0	85.0					1																	110213937		2203	4300	6503	110015460	SO:0001583	missense	2946	exon6			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.389C>G	1.37:g.110213937C>G	ENSP00000241337:p.Ala130Gly	Somatic		Capture	Illumina HiSeq	Phase_I	110015460	NM_000848	B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	CCDS808.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.845232	0.00568	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T;T	0.03920	4.34;3.76;4.34;4.34;3.76;4.34;4.34;4.34	3.06	-6.12	0.02124	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	64.345100	0.00710	N	0.000825	T	0.00580	0.0019	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43081	-0.9413	10	0.16420	T	0.52	.	7.3812	0.26856	0.4109:0.4448:0.1442:0.0	.	130;130;130	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	G	130;128;130;130;121;26;130;130	ENSP00000416883:A130G;ENSP00000358842:A128G;ENSP00000358846:A130G;ENSP00000435910:A130G;ENSP00000435157:A121G;ENSP00000404662:A26G;ENSP00000358844:A130G;ENSP00000241337:A130G	ENSP00000241337:A130G	A	+	2	0	GSTM2	110015460	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-3.213000	0.00555	-2.248000	0.00703	-0.350000	0.07774	GCA		0.532	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848	
EPS8L3	79574	broad.mit.edu	37	1	110293371	110293371	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110293371G>A	ENST00000361965.4	-	18	1787	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	EPS8L3_ENST00000369805.3_Missense_Mutation_p.R562C|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R531C|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	561						cytoplasm (GO:0005737)		p.R562C(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGTCTTATGCGAAGTAGCTGG	0.607																																					p.R562C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1684T	1						.						72.0	55.0	60.0					1																	110293371		2203	4300	6503	110094894	SO:0001583	missense	79574	exon18			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1681C>T	1.37:g.110293371G>A	ENSP00000355255:p.Arg561Cys	Somatic		Capture	Illumina HiSeq	Phase_I	110094894	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234151	0.58886	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.18502	2.21;2.21;2.21	5.64	5.64	0.86602	.	0.632046	0.18247	N	0.147058	T	0.10380	0.0254	L	0.40543	1.245	0.19945	N	0.999945	D;D;P	0.58970	0.984;0.972;0.956	P;B;B	0.45138	0.471;0.28;0.401	T	0.04840	-1.0923	10	0.56958	D	0.05	-5.1502	15.1872	0.73012	0.0:0.0:1.0:0.0	.	531;561;562	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	C	531;562;561	ENSP00000354551:R531C;ENSP00000358820:R562C;ENSP00000355255:R561C	ENSP00000354551:R531C	R	-	1	0	EPS8L3	110094894	0.912000	0.30974	0.872000	0.34217	0.552000	0.35366	1.795000	0.38784	2.663000	0.90544	0.561000	0.74099	CGC		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
STRIP1	85369	broad.mit.edu	37	1	110589357	110589357	+	Missense_Mutation	SNP	G	G	A	rs146229969		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110589357G>A	ENST00000369795.3	+	13	1494	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	STRIP1_ENST00000369796.1_Missense_Mutation_p.R396H	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	491					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R491H(1)									GAATACCTCCGCTCCCCTCTC	0.582																																					p.R491H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1472A	1						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	144.0	144.0		1472	4.9	1.0	1	dbSNP_134	144	0,8600		0,0,4300	no	missense	FAM40A	NM_033088.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	491/838	110589357	2,13004	2203	4300	6503	110390880	SO:0001583	missense	85369	exon13			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1472G>A	1.37:g.110589357G>A	ENSP00000358810:p.Arg491His	Somatic		Capture	Illumina HiSeq	Phase_I	110390880	NM_033088	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113154	0.94339	4.54E-4	0.0	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.48836	0.8;0.8	5.83	4.9	0.64082	.	0.055294	0.64402	D	0.000001	T	0.45034	0.1322	L	0.41632	1.29	0.80722	D	1	P;P	0.51933	0.853;0.949	P;P	0.57425	0.548;0.82	T	0.41963	-0.9479	10	0.41790	T	0.15	-17.304	16.5879	0.84732	0.0:0.1305:0.8695:0.0	.	396;491	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	H	396;491	ENSP00000358811:R396H;ENSP00000358810:R491H	ENSP00000358810:R491H	R	+	2	0	FAM40A	110390880	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.147000	0.71783	1.460000	0.47911	0.650000	0.86243	CGC		0.582	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088	
SLC6A17	388662	broad.mit.edu	37	1	110734665	110734665	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110734665C>A	ENST00000331565.4	+	7	1421	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	312					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.G312G(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGGGCCTGGGCTTTGGTGGTG	0.562																																					p.G312G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C936A	1						.						160.0	152.0	155.0					1																	110734665		2203	4300	6503	110536188	SO:0001819	synonymous_variant	388662	exon7				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.936C>A	1.37:g.110734665C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110536188	NM_001010898	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	CCDS30799.1																																																																																				0.562	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
KCNC4	3749	broad.mit.edu	37	1	110765855	110765855	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110765855C>A	ENST00000369787.3	+	2	975	c.948C>A	c.(946-948)atC>atA	p.I316I	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.I316I|KCNC4_ENST00000413138.3_Silent_p.I316I	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	316					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I316I(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCTCAACATCATCGACTTTG	0.622																																					p.I316I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C948A	1						.						202.0	158.0	173.0					1																	110765855		2203	4300	6503	110567378	SO:0001819	synonymous_variant	3749	exon2			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.948C>A	1.37:g.110765855C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110567378	NM_004978	Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	CCDS821.1																																																																																				0.622	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574	
RBM15	64783	broad.mit.edu	37	1	110882416	110882416	+	Missense_Mutation	SNP	G	G	A	rs569177969		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110882416G>A	ENST00000369784.3	+	1	1289	c.389G>A	c.(388-390)aGc>aAc	p.S130N	RBM15_ENST00000487146.2_Missense_Mutation_p.S130N|RBM15_ENST00000602849.1_Missense_Mutation_p.S130N|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	130	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S130N(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCTCCCCGAGCACCAAAAAT	0.657			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S130N			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	1						.						10.0	14.0	13.0					1																	110882416		2113	4226	6339	110683939	SO:0001583	missense	64783	exon1			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.389G>A	1.37:g.110882416G>A	ENSP00000358799:p.Ser130Asn	Somatic	1430	Capture	Illumina HiSeq	Phase_I	110683939	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987647	0.53934	.	.	ENSG00000162775	ENST00000369784	T	0.46819	0.86	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000029	T	0.20047	0.0482	N	0.14661	0.345	0.34147	D	0.667036	B;B	0.33694	0.358;0.421	B;B	0.32864	0.154;0.108	T	0.08006	-1.0743	10	0.30854	T	0.27	-12.6453	18.5182	0.90942	0.0:0.0:1.0:0.0	.	130;130	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	130	ENSP00000358799:S130N	ENSP00000358799:S130N	S	+	2	0	RBM15	110683939	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.950000	0.49081	2.706000	0.92434	0.655000	0.94253	AGC		0.657	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
KCNA10	3744	broad.mit.edu	37	1	111060912	111060912	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111060912G>T	ENST00000369771.2	-	1	885	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.I166I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CATAGAAGGAGATTTCATCAG	0.488																																					p.I166I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	1						.						86.0	88.0	87.0					1																	111060912		2203	4300	6503	110862435	SO:0001819	synonymous_variant	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.498C>A	1.37:g.111060912G>T		Somatic		Capture	Illumina HiSeq	Phase_I	110862435	NM_005549		Silent	SNP	ENST00000369771.2	37	CCDS826.1																																																																																				0.488	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCNA10	3744	broad.mit.edu	37	1	111061334	111061334	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111061334G>A	ENST00000369771.2	-	1	463	c.76C>T	c.(76-78)Cca>Tca	p.P26S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	26					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.P26S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCATAGCCTGGCTCTTCTTGG	0.522																																					p.P26S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C76T	1						.						38.0	38.0	38.0					1																	111061334		2203	4300	6503	110862857	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.76C>T	1.37:g.111061334G>A	ENSP00000358786:p.Pro26Ser	Somatic		Capture	Illumina HiSeq	Phase_I	110862857	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	8.776	0.927093	0.18056	.	.	ENSG00000143105	ENST00000369771	D	0.96554	-4.05	5.63	2.72	0.32119	.	0.260949	0.32175	N	0.006468	D	0.83083	0.5177	N	0.16307	0.4	0.36499	D	0.86891	B	0.02656	0.0	B	0.01281	0.0	T	0.73685	-0.3905	10	0.17369	T	0.5	.	8.8567	0.35231	0.2358:0.0:0.7642:0.0	.	26	Q16322	KCA10_HUMAN	S	26	ENSP00000358786:P26S	ENSP00000358786:P26S	P	-	1	0	KCNA10	110862857	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.385000	0.44371	0.729000	0.32403	0.655000	0.94253	CCA		0.522	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCNA3	3738	broad.mit.edu	37	1	111215836	111215836	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111215836G>A	ENST00000369769.2	-	1	1819	c.1596C>T	c.(1594-1596)atC>atT	p.I532I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	532					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.I532I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CCCCCTCTTCGATCACCATAT	0.527																																					p.I532I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1596T	1						.						112.0	103.0	106.0					1																	111215836		2203	4300	6503	111017359	SO:0001819	synonymous_variant	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1596C>T	1.37:g.111215836G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111017359	NM_002232	Q5VWN2	Silent	SNP	ENST00000369769.2	37	CCDS828.2																																																																																				0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
KCNA3	3738	broad.mit.edu	37	1	111216508	111216508	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111216508G>A	ENST00000369769.2	-	1	1147	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.F308F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CCAGCAGTTCGAAGGAGAACC	0.547																																					p.F308F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	1						.						85.0	85.0	85.0					1																	111216508		2203	4300	6503	111018031	SO:0001819	synonymous_variant	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.924C>T	1.37:g.111216508G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111018031	NM_002232	Q5VWN2	Silent	SNP	ENST00000369769.2	37	CCDS828.2																																																																																				0.547	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
CD53	963	broad.mit.edu	37	1	111435077	111435077	+	Silent	SNP	C	C	T	rs529327509		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111435077C>T	ENST00000271324.5	+	3	286	c.174C>T	c.(172-174)atC>atT	p.I58I	CD53_ENST00000429072.2_Silent_p.I58I	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	58					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I58I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TGTTTGTCATCGTGGGCTCTA	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20999	0.0		0.0	False		,,,				2504	0.0				p.I58I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	1						.						220.0	200.0	207.0					1																	111435077		2203	4300	6503	111236600	SO:0001819	synonymous_variant	963	exon4			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.174C>T	1.37:g.111435077C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111236600	NM_001040033	B2R905|Q5U0D6	Silent	SNP	ENST00000271324.5	37	CCDS829.1																																																																																				0.507	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	
CHI3L2	1117	broad.mit.edu	37	1	111773482	111773482	+	Silent	SNP	C	C	T	rs201031221		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111773482C>T	ENST00000445067.2	+	5	960	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000369748.4_Silent_p.F63F|CHI3L2_ENST00000369744.2_Silent_p.F53F|CHI3L2_ENST00000466741.1_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2	63					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.F63F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCTATTCATTCGCCAGCATCG	0.458																																					p.F63F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C189T	1						.						85.0	74.0	78.0					1																	111773482		2203	4300	6503	111575005	SO:0001819	synonymous_variant	1117	exon3			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.189C>T	1.37:g.111773482C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111575005	NM_004000	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Silent	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889849	0.17540	.	.	ENSG00000064886	ENST00000533831	.	.	.	4.09	-1.11	0.09840	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35699	-0.9778	4	.	.	.	-8.544	8.5256	0.33302	0.0:0.5371:0.0:0.4629	.	.	.	.	L	32	.	.	S	+	2	0	CHI3L2	111575005	0.001000	0.12720	0.009000	0.14445	0.867000	0.49689	-1.416000	0.02467	-0.442000	0.07190	-0.302000	0.09304	TCG		0.458	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	
CHI3L2	1117	broad.mit.edu	37	1	111777549	111777549	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111777549C>A	ENST00000445067.2	+	7	1121	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	CHI3L2_ENST00000524472.1_Missense_Mutation_p.S38Y|CHI3L2_ENST00000369748.4_Missense_Mutation_p.S117Y|CHI3L2_ENST00000369744.2_Missense_Mutation_p.S107Y|CHI3L2_ENST00000466741.1_Missense_Mutation_p.S38Y			Q15782	CH3L2_HUMAN	chitinase 3-like 2	117					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S117Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATGGTGGATTCTTCTACATCA	0.398																																					p.S117Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350A	1						.						124.0	111.0	116.0					1																	111777549		2203	4300	6503	111579072	SO:0001583	missense	1117	exon5			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.350C>A	1.37:g.111777549C>A	ENSP00000437082:p.Ser117Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	111579072	NM_004000	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375324	0.42105	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	T;T;T;T;T;T;T;T;T;T	0.35048	3.28;3.28;3.28;3.28;3.28;3.28;3.28;1.33;3.28;3.28	3.71	3.71	0.42584	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.40302	N	0.001140	T	0.56978	0.2022	M	0.91196	3.185	0.33151	D	0.545679	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.972;0.972;0.972	T	0.68051	-0.5511	10	0.87932	D	0	-7.7821	12.9974	0.58654	0.0:1.0:0.0:0.0	.	38;107;117	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	Y	117;117;117;107;117;117;38;38;19;38;38	ENSP00000437082:S117Y;ENSP00000436077:S117Y;ENSP00000431968:S117Y;ENSP00000358759:S107Y;ENSP00000358763:S117Y;ENSP00000437086:S38Y;ENSP00000436272:S38Y;ENSP00000431978:S19Y;ENSP00000436006:S38Y;ENSP00000432049:S38Y	ENSP00000358759:S107Y	S	+	2	0	CHI3L2	111579072	0.001000	0.12720	0.821000	0.32701	0.300000	0.27592	1.184000	0.32053	1.868000	0.54150	0.462000	0.41574	TCT		0.398	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	
CHI3L2	1117	broad.mit.edu	37	1	111783975	111783975	+	Missense_Mutation	SNP	G	G	T	rs575736558		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111783975G>T	ENST00000445067.2	+	11	1716	c.945G>T	c.(943-945)aaG>aaT	p.K315N	CHI3L2_ENST00000524472.1_Missense_Mutation_p.K236N|CHI3L2_ENST00000369748.4_Missense_Mutation_p.K315N|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.K305N|CHI3L2_ENST00000466741.1_Missense_Mutation_p.K236N			Q15782	CH3L2_HUMAN	chitinase 3-like 2	315					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.K315N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AAGGAGCCAAGATCACGCGGC	0.542																																					p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945T	1						.						98.0	89.0	92.0					1																	111783975		2203	4300	6503	111585498	SO:0001583	missense	1117	exon9			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.945G>T	1.37:g.111783975G>T	ENSP00000437082:p.Lys315Asn	Somatic		Capture	Illumina HiSeq	Phase_I	111585498	NM_004000	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	3.576	-0.086681	0.07097	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472;ENST00000497220;ENST00000472825	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;2.22;2.5	3.59	-2.43	0.06522	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.725193	0.11225	U	0.586279	T	0.08935	0.0221	N	0.25332	0.735	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.29088	-1.0023	10	0.66056	D	0.02	-0.3912	0.7642	0.01012	0.289:0.2717:0.284:0.1553	.	305;315	A6NNY3;Q15782	.;CH3L2_HUMAN	N	315;305;315;236;236;108;11	ENSP00000437082:K315N;ENSP00000358759:K305N;ENSP00000358763:K315N;ENSP00000437086:K236N;ENSP00000432049:K236N;ENSP00000435250:K108N;ENSP00000435935:K11N	ENSP00000358759:K305N	K	+	3	2	CHI3L2	111585498	0.000000	0.05858	0.030000	0.17652	0.089000	0.18198	-1.737000	0.01843	-0.094000	0.12374	-0.137000	0.14449	AAG		0.542	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	
CHIA	27159	broad.mit.edu	37	1	111854874	111854874	+	Missense_Mutation	SNP	C	C	T	rs373325850		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111854874C>T	ENST00000369740.1	+	4	221	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R40C	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	40					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.R40C(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGGCCTGGGGCGCTTCATGCC	0.572																																					p.R40C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118T	1						.	C	,CYS/ARG	1,4179		0,1,2089	80.0	83.0	82.0		,118	-2.2	0.0	1		82	1,8423		0,1,4211	no	intron,missense	CHIA	NM_021797.2,NM_201653.2	,180	0,2,6300	TT,TC,CC		0.0119,0.0239,0.0159	,possibly-damaging	,40/477	111854874	2,12602	2090	4212	6302	111656397	SO:0001583	missense	27159	exon4			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.118C>T	1.37:g.111854874C>T	ENSP00000358755:p.Arg40Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111656397	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863810	0.51482	2.39E-4	1.19E-4	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.05925	3.37;3.37	5.08	-2.17	0.07059	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.456243	0.18494	U	0.139566	T	0.04952	0.0133	M	0.71581	2.175	0.45979	D	0.998794	D	0.57571	0.98	P	0.49799	0.622	T	0.31475	-0.9942	10	0.72032	D	0.01	-0.3505	6.4176	0.21725	0.6627:0.1648:0.0959:0.0766	.	40	Q9BZP6	CHIA_HUMAN	C	40	ENSP00000358755:R40C;ENSP00000341828:R40C	ENSP00000341828:R40C	R	+	1	0	CHIA	111656397	0.000000	0.05858	0.032000	0.17829	0.483000	0.33249	0.208000	0.17415	-0.359000	0.08150	0.655000	0.94253	CGC		0.572	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
CHIA	27159	broad.mit.edu	37	1	111862985	111862985	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111862985A>G	ENST00000369740.1	+	12	1431	c.1328A>G	c.(1327-1329)aAc>aGc	p.N443S	CHIA_ENST00000483391.1_Missense_Mutation_p.N282S|CHIA_ENST00000430615.1_Missense_Mutation_p.N335S|CHIA_ENST00000353665.6_Missense_Mutation_p.N282S|CHIA_ENST00000451398.2_Missense_Mutation_p.N282S|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.N443S	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	443	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.N335S(1)|p.N443S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GTGGCAAATAACAGAAATGCC	0.602																																					p.N443S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1328G	1						.						66.0	61.0	63.0					1																	111862985		2203	4300	6503	111664508	SO:0001583	missense	27159	exon12			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1328A>G	1.37:g.111862985A>G	ENSP00000358755:p.Asn443Ser	Somatic		Capture	Illumina HiSeq	Phase_I	111664508	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131665	0.56828	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;3.63;1.46	4.77	4.77	0.60923	Chitin binding domain (5);	0.074156	0.49916	U	0.000133	T	0.24392	0.0591	L	0.61036	1.89	0.31389	N	0.678113	B	0.30584	0.286	B	0.40506	0.331	T	0.16897	-1.0387	10	0.51188	T	0.08	-10.7086	12.5544	0.56244	1.0:0.0:0.0:0.0	.	443	Q9BZP6	CHIA_HUMAN	S	387;282;443;443;282;282;282;335	ENSP00000387671:N387S;ENSP00000436946:N282S;ENSP00000358755:N443S;ENSP00000341828:N443S;ENSP00000390476:N282S;ENSP00000338970:N282S;ENSP00000433309:N282S;ENSP00000391132:N335S	ENSP00000341828:N443S	N	+	2	0	CHIA	111664508	0.698000	0.27777	0.489000	0.27452	0.868000	0.49771	2.866000	0.48420	2.124000	0.65301	0.533000	0.62120	AAC		0.602	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
PIFO	128344	broad.mit.edu	37	1	111889532	111889532	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:111889532A>G	ENST00000369738.4	+	2	385	c.20A>G	c.(19-21)gAc>gGc	p.D7G	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Splice_Site_p.D7G	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	7					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.D7G(1)									TTTATTTTAGACGCTGCGGAT	0.537																																					p.D7G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A20G	1						.						74.0	65.0	68.0					1																	111889532		2203	4300	6503	111691055	SO:0001630	splice_region_variant	128344	exon2			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.20-1A>G	1.37:g.111889532A>G		Somatic		Capture	Illumina HiSeq	Phase_I	111691055	NM_181643	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	A	7.471	0.646752	0.14516	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.22945	1.93;1.93	5.1	0.131	0.14755	.	1.966570	0.02024	N	0.047988	T	0.08268	0.0206	L	0.43152	1.355	0.19775	N	0.99996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23084	-1.0198	9	.	.	.	.	7.7495	0.28888	0.4852:0.0:0.5148:0.0	.	7;7;7	Q8TCI5-2;Q8TCI5-3;Q8TCI5	.;.;PIFO_HUMAN	G	7	ENSP00000358753:D7G;ENSP00000358752:D7G	.	D	+	2	0	C1orf88	111691055	0.482000	0.25948	0.018000	0.16275	0.013000	0.08279	0.666000	0.25097	-0.122000	0.11766	-0.441000	0.05720	GAC		0.537	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643	Missense_Mutation
DDX20	11218	broad.mit.edu	37	1	112305322	112305322	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:112305322G>A	ENST00000369702.4	+	9	1748	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	376	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.E376E(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGCTGAGAAGGTGAATC	0.368																																					p.E376E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	1						.						150.0	153.0	152.0					1																	112305322		2203	4300	6503	112106845	SO:0001819	synonymous_variant	11218	exon9			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1128G>A	1.37:g.112305322G>A		Somatic		Capture	Illumina HiSeq	Phase_I	112106845	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																				0.368	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
DDX20	11218	broad.mit.edu	37	1	112308673	112308673	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:112308673G>A	ENST00000369702.4	+	11	2247	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	DDX20_ENST00000475700.1_Missense_Mutation_p.E151K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	543	SMN interacting.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.E543K(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGCAATCCGAAGAGCAAAT	0.443																																					p.E543K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1627A	1						.						64.0	65.0	65.0					1																	112308673		2203	4300	6503	112110196	SO:0001583	missense	11218	exon11			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1627G>A	1.37:g.112308673G>A	ENSP00000358716:p.Glu543Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112110196	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	0.598	-0.830265	0.02734	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.32272	1.46;2.01	5.24	2.97	0.34412	.	3.983710	0.00710	N	0.000830	T	0.09730	0.0239	L	0.41079	1.255	0.09310	N	1	B;B	0.17667	0.023;0.001	B;B	0.12156	0.007;0.001	T	0.15350	-1.0440	9	.	.	.	-35.9774	3.0483	0.06161	0.2484:0.0:0.5434:0.2082	.	151;543	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	543;151	ENSP00000358716:E543K;ENSP00000435660:E151K	.	E	+	1	0	DDX20	112110196	0.998000	0.40836	0.765000	0.31456	0.012000	0.07955	3.425000	0.52771	1.357000	0.45904	0.591000	0.81541	GAA		0.443	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
MTOR	2475	broad.mit.edu	37	1	11293466	11293466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:11293466C>A	ENST00000361445.4	-	15	2486	c.2410G>T	c.(2410-2412)Gaa>Taa	p.E804*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	804					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E804*(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTGCCAATTCTCCTATTGTT	0.378																																					p.E804X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2410T	1						.						110.0	100.0	103.0					1																	11293466		2203	4300	6503	11216053	SO:0001587	stop_gained	2475	exon15			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2410G>T	1.37:g.11293466C>A	ENSP00000354558:p.Glu804*	Somatic		Capture	Illumina HiSeq	Phase_I	11216053	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Nonsense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	41	8.945397	0.99012	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2304	18.3151	0.90218	0.0:1.0:0.0:0.0	.	.	.	.	X	804	.	ENSP00000354558:E804X	E	-	1	0	MTOR	11216053	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.889000	0.75627	2.765000	0.95021	0.655000	0.94253	GAA		0.378	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
KCND3	3752	broad.mit.edu	37	1	112323370	112323370	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:112323370G>A	ENST00000315987.2	-	4	1792	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	KCND3_ENST00000369697.1_Missense_Mutation_p.S438L|KCND3_ENST00000302127.4_Missense_Mutation_p.S438L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	438					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S438L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTATGCATTCGAACTGCCTGT	0.537																																					p.S438L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1313T	1						.						71.0	55.0	60.0					1																	112323370		2203	4300	6503	112124893	SO:0001583	missense	3752	exon4			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1313C>T	1.37:g.112323370G>A	ENSP00000319591:p.Ser438Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112124893	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438997	0.63067	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96913	-4.17;-4.17;-4.17	5.26	5.26	0.73747	.	0.111627	0.64402	D	0.000006	D	0.87613	0.6221	N	0.14661	0.345	0.80722	D	1	B;P	0.37731	0.283;0.607	B;B	0.26094	0.026;0.066	D	0.89543	0.3794	10	0.49607	T	0.09	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	438;438	Q14D71;Q9UK17	.;KCND3_HUMAN	L	438	ENSP00000358711:S438L;ENSP00000319591:S438L;ENSP00000306923:S438L	ENSP00000306923:S438L	S	-	2	0	KCND3	112124893	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.199000	0.95003	2.446000	0.82766	0.655000	0.94253	TCG		0.537	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
UBIAD1	29914	broad.mit.edu	37	1	11333877	11333877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:11333877G>A	ENST00000376810.5	+	1	615	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	UBIAD1_ENST00000376804.2_Missense_Mutation_p.A97T	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	97			A -> T (in SCCD). {ECO:0000269|PubMed:20505825}.		menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.A97T(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTGCACGGGGCCGGTAATTT	0.572																																					p.A97T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G289A	1						.						118.0	115.0	116.0					1																	11333877		2203	4300	6503	11256464	SO:0001583	missense	29914	exon1				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.289G>A	1.37:g.11333877G>A	ENSP00000366006:p.Ala97Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11256464	NM_013319	B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489512	0.96323	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.94138	-3.36;-3.36	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.84585	2.705	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	D	0.97328	0.9948	10	0.72032	D	0.01	1.759	17.7165	0.88338	0.0:0.0:1.0:0.0	.	97	Q9Y5Z9	UBIA1_HUMAN	T	97	ENSP00000366006:A97T;ENSP00000366000:A97T	ENSP00000366000:A97T	A	+	1	0	UBIAD1	11256464	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.141000	0.94612	2.484000	0.83849	0.453000	0.30009	GCC		0.572	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319	
KCND3	3752	broad.mit.edu	37	1	112525106	112525106	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:112525106C>A	ENST00000315987.2	-	2	722	c.243G>T	c.(241-243)gaG>gaT	p.E81D	KCND3_ENST00000369697.1_Missense_Mutation_p.E81D|KCND3_ENST00000302127.4_Missense_Mutation_p.E81D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	81					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E81D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGAAGAAGTACTCCTTGGTGT	0.627																																					p.E81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G243T	1						.						128.0	115.0	120.0					1																	112525106		2203	4300	6503	112326629	SO:0001583	missense	3752	exon2			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.243G>T	1.37:g.112525106C>A	ENSP00000319591:p.Glu81Asp	Somatic		Capture	Illumina HiSeq	Phase_I	112326629	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580259	0.65992	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.79940	-1.32;-1.32;-1.32	5.74	3.87	0.44632	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.90019	3.08	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.66979	0.948;0.948	D	0.87155	0.2211	10	0.87932	D	0	.	5.7036	0.17895	0.0:0.6404:0.0:0.3596	.	81;81	Q14D71;Q9UK17	.;KCND3_HUMAN	D	81	ENSP00000358711:E81D;ENSP00000319591:E81D;ENSP00000306923:E81D	ENSP00000306923:E81D	E	-	3	2	KCND3	112326629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.425000	0.34859	1.435000	0.47434	0.655000	0.94253	GAG		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
WNT2B	7482	broad.mit.edu	37	1	113057648	113057648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:113057648G>A	ENST00000369684.4	+	2	820	c.335G>A	c.(334-336)cGc>cAc	p.R112H	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Missense_Mutation_p.R20H|WNT2B_ENST00000369686.5_Missense_Mutation_p.R93H|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	112					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R112H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCAATTCCGCCACCACCGC	0.607																																					p.R93H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	1						.						88.0	68.0	75.0					1																	113057648		2203	4300	6503	112859171	SO:0001583	missense	7482	exon3			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.335G>A	1.37:g.113057648G>A	ENSP00000358698:p.Arg112His	Somatic		Capture	Illumina HiSeq	Phase_I	112859171	NM_004185	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033425	0.93575	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78595	-1.19;-1.19;-1.19	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.944	D	0.88909	0.3358	10	0.72032	D	0.01	.	18.5545	0.91079	0.0:0.0:1.0:0.0	.	112;93	Q93097;Q93097-2	WNT2B_HUMAN;.	H	20;93;112	ENSP00000256640:R20H;ENSP00000358700:R93H;ENSP00000358698:R112H	ENSP00000256640:R20H	R	+	2	0	WNT2B	112859171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.895000	0.87343	2.474000	0.83562	0.561000	0.74099	CGC		0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185	
ST7L	54879	broad.mit.edu	37	1	113098529	113098529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:113098529C>A	ENST00000358039.4	-	12	1661	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*	ST7L_ENST00000360743.4_Nonsense_Mutation_p.E453*|ST7L_ENST00000369666.1_Nonsense_Mutation_p.E436*|ST7L_ENST00000490067.1_Nonsense_Mutation_p.E436*|ST7L_ENST00000369669.1_Nonsense_Mutation_p.E270*|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Nonsense_Mutation_p.E453*|ST7L_ENST00000538187.1_Nonsense_Mutation_p.E397*|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000544629.1_Nonsense_Mutation_p.E388*|ST7L_ENST00000343210.7_Nonsense_Mutation_p.E453*	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	453					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.E453*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGCACCTTCTATTCGTTTC	0.373																																					p.E453X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1357T	1						.						138.0	130.0	132.0					1																	113098529		2203	4300	6503	112900052	SO:0001587	stop_gained	54879	exon12			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1357G>T	1.37:g.113098529C>A	ENSP00000350734:p.Glu453*	Somatic		Capture	Illumina HiSeq	Phase_I	112900052	NM_138728	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Nonsense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.770716|7.770716	0.98480|0.98480	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187|ENST00000418497	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.37606|.	T|.	0.19|.	-13.8307|-13.8307	19.1881|19.1881	0.93653|0.93653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	453;453;234;388;270;436;453;453;436;397|227	.|.	ENSP00000345312:E453X|.	E|X	-|-	1|3	0|2	ST7L|ST7L	112900052|112900052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.814000|7.814000	0.86154|0.86154	2.625000|2.625000	0.88918|0.88918	0.585000|0.585000	0.79938|0.79938	GAA|TAG		0.373	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3		
RHOC	389	broad.mit.edu	37	1	113245235	113245235	+	Missense_Mutation	SNP	C	C	T	rs11538959		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:113245235C>T	ENST00000285735.2	-	5	1567	c.358G>A	c.(358-360)Gac>Aac	p.D120N	RHOC_ENST00000369638.2_Missense_Mutation_p.D120N|RHOC_ENST00000369642.3_Missense_Mutation_p.D120N|RHOC_ENST00000339083.7_Missense_Mutation_p.D120N|RP11-426L16.10_ENST00000471038.2_Intron|RHOC_ENST00000369636.2_Missense_Mutation_p.D120N|RHOC_ENST00000369632.2_Missense_Mutation_p.D120N|RHOC_ENST00000369633.2_Missense_Mutation_p.D120N|RHOC_ENST00000369637.1_Missense_Mutation_p.D120N			P08134	RHOC_HUMAN	ras homolog family member C	120			D -> H (in dbSNP:rs11538959).		apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)	p.D120N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCTCAGGTCCTTCTTATTC	0.572																																					p.D120N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358A	1						.						138.0	129.0	132.0					1																	113245235		2203	4300	6503	113046758	SO:0001583	missense	389	exon5			BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.358G>A	1.37:g.113245235C>T	ENSP00000285735:p.Asp120Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113046758	NM_175744	B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	36	5.866336	0.97043	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685	D;D;D;D;D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	1.290410	0.06197	U	0.682494	D	0.96935	0.8999	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93431	0.6785	10	0.87932	D	0	-10.5477	17.9442	0.89035	0.0:1.0:0.0:0.0	.	120	P08134	RHOC_HUMAN	N	120;120;120;120;120;120;120;120;157;120;120;120	ENSP00000345236:D120N;ENSP00000358647:D120N;ENSP00000358656:D120N;ENSP00000285735:D120N;ENSP00000358652:D120N;ENSP00000358651:D120N;ENSP00000358650:D120N;ENSP00000358646:D120N;ENSP00000434877:D157N;ENSP00000390823:D120N;ENSP00000436240:D120N;ENSP00000399424:D120N	ENSP00000285735:D120N	D	-	1	0	RHOC	113046758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.324000	0.78689	0.543000	0.68304	GAC		0.572	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744	
MAGI3	260425	broad.mit.edu	37	1	114226599	114226599	+	Missense_Mutation	SNP	T	T	G	rs201876414	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114226599T>G	ENST00000307546.9	+	21	4484	c.4409T>G	c.(4408-4410)gTc>gGc	p.V1470G	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1495					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		GGAAATAAAGTCACAGGCACT	0.393																																					p.V1470G												.	.	0			c.T4409G	1						.						34.0	33.0	33.0					1																	114226599		1568	3582	5150	114028122	SO:0001583	missense	260425	exon21			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.4409T>G	1.37:g.114226599T>G	ENSP00000304604:p.Val1470Gly	Somatic		Capture	Illumina HiSeq	Phase_I	114028122	NM_001142782	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	3'UTR	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220937	0.58560	.	.	ENSG00000081026	ENST00000307546	T	0.19938	2.11	5.83	2.46	0.29980	.	0.186790	0.35708	N	0.003037	T	0.04861	0.0131	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17868	-1.0355	10	0.66056	D	0.02	-28.7924	4.1379	0.10179	0.0:0.3152:0.1753:0.5094	.	1470	Q5TCQ9-4	.	G	1470	ENSP00000304604:V1470G	ENSP00000304604:V1470G	V	+	2	0	MAGI3	114028122	0.985000	0.35326	0.054000	0.19295	0.650000	0.38633	2.076000	0.41548	0.214000	0.20742	0.533000	0.62120	GTC		0.393	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
PHTF1	10745	broad.mit.edu	37	1	114248585	114248585	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114248585T>G	ENST00000369604.1	-	13	2081	c.1598A>C	c.(1597-1599)aAt>aCt	p.N533T	PHTF1_ENST00000357783.2_Missense_Mutation_p.N533T|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.N480T|PHTF1_ENST00000393357.2_Missense_Mutation_p.N533T|PHTF1_ENST00000369598.1_Missense_Mutation_p.N488T|PHTF1_ENST00000369600.1_Missense_Mutation_p.N480T			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	533					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N533T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		TTCAAAAAAATTAATTATCGA	0.358																																					p.N533T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1598C	1						.						75.0	71.0	73.0					1																	114248585		2203	4300	6503	114050108	SO:0001583	missense	10745	exon12			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1598A>C	1.37:g.114248585T>G	ENSP00000358617:p.Asn533Thr	Somatic		Capture	Illumina HiSeq	Phase_I	114050108	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.98|13.98	2.398147|2.398147	0.42512|0.42512	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.097993	.|0.64402	.|D	.|0.000001	T|T	0.32255|0.32255	0.0823|0.0823	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.45531	.|0.115;0.86;0.481	.|B;P;B	.|0.47075	.|0.026;0.536;0.114	T|T	0.40059|0.40059	-0.9583|-0.9583	5|9	.|0.05525	.|T	.|0.97	-27.0223|-27.0223	11.6122|11.6122	0.51066|0.51066	0.1332:0.0:0.0:0.8668|0.1332:0.0:0.0:0.8668	.|.	.|533;288;533	.|Q9UMS5;Q5TCR1;Q9UMS5-2	.|PHTF1_HUMAN;.;.	L|T	289|488;533;480;488;480;533;533	.|.	.|ENSP00000350428:N533T	I|N	-|-	1|2	0|0	PHTF1|PHTF1	114050108|114050108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.962000|0.962000	0.63368|0.63368	3.244000|3.244000	0.51399|0.51399	2.151000|2.151000	0.67156|0.67156	0.397000|0.397000	0.26171|0.26171	ATT|AAT		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
PHTF1	10745	broad.mit.edu	37	1	114300338	114300338	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114300338C>T	ENST00000369604.1	-	3	568	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	PHTF1_ENST00000357783.2_Missense_Mutation_p.E29K|PHTF1_ENST00000369596.2_Missense_Mutation_p.E29K|PHTF1_ENST00000369598.1_Missense_Mutation_p.E29K|PHTF1_ENST00000393357.2_Missense_Mutation_p.E29K|PHTF1_ENST00000447664.2_Missense_Mutation_p.E29K|PHTF1_ENST00000369600.1_Missense_Mutation_p.E29K			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	29					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E29K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		TGAGTCTGTTCGATTGACTTT	0.368																																					p.E29K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	1						.						146.0	127.0	134.0					1																	114300338		2203	4300	6503	114101861	SO:0001583	missense	10745	exon2			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.85G>A	1.37:g.114300338C>T	ENSP00000358617:p.Glu29Lys	Somatic		Capture	Illumina HiSeq	Phase_I	114101861	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183960	0.94885	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664;ENST00000446739	.	.	.	5.07	5.07	0.68467	Transcription factor homeodomain, male germ-cell (1);	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.84974	0.0884	9	0.87932	D	0	-18.6348	15.6137	0.76748	0.0:1.0:0.0:0.0	.	29;29;29;29	F5H7M5;Q9UMS5;B4DGS8;Q9UMS5-2	.;PHTF1_HUMAN;.;.	K	29	.	ENSP00000350428:E29K	E	-	1	0	PHTF1	114101861	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.508000	0.67006	2.337000	0.79520	0.655000	0.94253	GAA		0.368	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
RSBN1	54665	broad.mit.edu	37	1	114340193	114340193	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114340193C>A	ENST00000261441.5	-	2	1232	c.1169G>T	c.(1168-1170)aGa>aTa	p.R390I		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	390						nucleus (GO:0005634)		p.R390I(1)		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)		CTCAGAAAATCTCTCCATCTC	0.418																																					p.R390I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169T	1						.						39.0	37.0	38.0					1																	114340193		2203	4299	6502	114141716	SO:0001583	missense	54665	exon2			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.1169G>T	1.37:g.114340193C>A	ENSP00000261441:p.Arg390Ile	Somatic		Capture	Illumina HiSeq	Phase_I	114141716	NM_018364	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374744	0.61735	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.84	5.84	0.93424	.	0.062935	0.85682	D	0.000000	T	0.69214	0.3086	L	0.59436	1.845	0.80722	D	1	D	0.57899	0.981	P	0.57101	0.813	T	0.70788	-0.4777	9	0.72032	D	0.01	-9.9042	20.1346	0.98019	0.0:1.0:0.0:0.0	.	390	Q5VWQ0	RSBN1_HUMAN	I	390	.	ENSP00000261441:R390I	R	-	2	0	RSBN1	114141716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.909000	0.69923	2.765000	0.95021	0.655000	0.94253	AGA		0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
PTPN22	26191	broad.mit.edu	37	1	114380628	114380628	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114380628C>A	ENST00000359785.5	-	13	1529	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.S465I|PTPN22_ENST00000525799.1_Missense_Mutation_p.S338I|PTPN22_ENST00000538253.1_Missense_Mutation_p.S221I|PTPN22_ENST00000528414.1_Missense_Mutation_p.S410I	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	465					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.S465I(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GTTTTCCTTGCTGTCCACCTC	0.378																																					p.S410I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1229T	1						.						107.0	102.0	104.0					1																	114380628		2203	4300	6503	114182151	SO:0001583	missense	26191	exon11			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1394G>T	1.37:g.114380628C>A	ENSP00000352833:p.Ser465Ile	Somatic		Capture	Illumina HiSeq	Phase_I	114182151	NM_012411	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	2.829	-0.243072	0.05906	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.82	2.15	0.27550	.	1.275640	0.05183	N	0.501726	T	0.17492	0.0420	N	0.03177	-0.4	0.09310	N	1	B;B;B;B;B;B	0.13145	0.001;0.007;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.002;0.001	T	0.18304	-1.0341	10	0.18710	T	0.47	.	11.6128	0.51072	0.4914:0.5086:0.0:0.0	.	221;338;465;410;465;465	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	I	465;410;221;465;338;465	ENSP00000352833:S465I;ENSP00000435176:S410I;ENSP00000439372:S221I;ENSP00000388229:S465I;ENSP00000432674:S338I	ENSP00000346621:S465I	S	-	2	0	PTPN22	114182151	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.780000	0.04654	0.106000	0.17784	-0.262000	0.10625	AGC		0.378	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
AP4B1	10717	broad.mit.edu	37	1	114438993	114438993	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114438993G>A	ENST00000369569.1	-	8	1677	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.S298L|AP4B1_ENST00000256658.4_Missense_Mutation_p.S466L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	466					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.S466L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		AAATGTTTCCGACTTCACATT	0.483																																					p.S466L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1397T	1						.						176.0	171.0	173.0					1																	114438993		2203	4300	6503	114240516	SO:0001583	missense	10717	exon9			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1397C>T	1.37:g.114438993G>A	ENSP00000358582:p.Ser466Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114240516	NM_006594	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520829	0.64747	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.14144	2.53;2.53;2.53	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.227063	0.42548	D	0.000689	T	0.07007	0.0178	L	0.27053	0.805	0.80722	D	1	B;P;B	0.48089	0.439;0.905;0.305	B;B;B	0.37601	0.075;0.254;0.046	T	0.10800	-1.0614	10	0.87932	D	0	-12.7465	20.5948	0.99439	0.0:0.0:1.0:0.0	.	298;466;367	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	L	298;466;466	ENSP00000358580:S298L;ENSP00000358582:S466L;ENSP00000256658:S466L	ENSP00000256658:S466L	S	-	2	0	AP4B1	114240516	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	5.193000	0.65120	2.873000	0.98535	0.563000	0.77884	TCG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594	
HIPK1	204851	broad.mit.edu	37	1	114506017	114506017	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114506017T>C	ENST00000369558.1	+	10	2344	c.2112T>C	c.(2110-2112)tgT>tgC	p.C704C	HIPK1_ENST00000369553.1_Silent_p.C310C|HIPK1_ENST00000426820.2_Silent_p.C704C|HIPK1_ENST00000369559.4_Silent_p.C704C|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000406344.1_Silent_p.C310C|HIPK1_ENST00000369561.4_Silent_p.C670C|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000340480.4_Silent_p.C330C			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	704					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C704C(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		AGGGAAGCTGTACACCACTAA	0.542																																					p.C330C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T990C	1						.						81.0	75.0	77.0					1																	114506017		2203	4300	6503	114307540	SO:0001819	synonymous_variant	204851	exon9			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2112T>C	1.37:g.114506017T>C		Somatic		Capture	Illumina HiSeq	Phase_I	114307540	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1																																																																																				0.542	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
HIPK1	204851	broad.mit.edu	37	1	114511225	114511225	+	Missense_Mutation	SNP	G	G	A	rs370415621		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114511225G>A	ENST00000369558.1	+	13	2958	c.2726G>A	c.(2725-2727)cGa>cAa	p.R909Q	HIPK1_ENST00000369553.1_Missense_Mutation_p.R515Q|HIPK1_ENST00000426820.2_Missense_Mutation_p.R909Q|HIPK1_ENST00000369559.4_Missense_Mutation_p.R909Q|HIPK1_ENST00000369555.2_Missense_Mutation_p.R864Q|HIPK1_ENST00000406344.1_Missense_Mutation_p.R515Q|HIPK1_ENST00000369561.4_Missense_Mutation_p.R875Q|HIPK1_ENST00000369554.2_Missense_Mutation_p.R864Q|HIPK1_ENST00000340480.4_Missense_Mutation_p.R535Q			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	909	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R909Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		ATCACTATCCGAAGTGACACT	0.468																																					p.R535Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1604A	1						.						107.0	92.0	97.0					1																	114511225		2203	4300	6503	114312748	SO:0001583	missense	204851	exon12			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2726G>A	1.37:g.114511225G>A	ENSP00000358571:p.Arg909Gln	Somatic		Capture	Illumina HiSeq	Phase_I	114312748	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297143	0.81025	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000005	T	0.12390	0.0301	L	0.36672	1.1	0.49687	D	0.999816	P;B;P;P	0.41748	0.744;0.261;0.648;0.761	B;B;B;B	0.34346	0.18;0.068;0.099;0.151	T	0.03394	-1.1041	10	0.31617	T	0.26	.	19.7398	0.96223	0.0:0.0:1.0:0.0	.	201;515;909;909	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	Q	980;909;909;864;864;909;875;535;515;515	ENSP00000407442:R980Q;ENSP00000358572:R909Q;ENSP00000409673:R909Q;ENSP00000358567:R864Q;ENSP00000358568:R864Q;ENSP00000358571:R909Q;ENSP00000358574:R875Q;ENSP00000340956:R535Q;ENSP00000358566:R515Q;ENSP00000384960:R515Q	ENSP00000340956:R535Q	R	+	2	0	HIPK1	114312748	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.480000	0.53172	2.665000	0.90641	0.561000	0.74099	CGA		0.468	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
TRIM33	51592	broad.mit.edu	37	1	114948207	114948207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114948207G>A	ENST00000358465.2	-	15	2676	c.2593C>T	c.(2593-2595)Cga>Tga	p.R865*	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.R865*|TRIM33_ENST00000450349.2_Nonsense_Mutation_p.R497*	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	865					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R865*(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGGCTTCGAATTGGGGAC	0.478			T	RET	papillary thyroid																																p.R865X			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2593T	1						.						197.0	181.0	187.0					1																	114948207		2203	4300	6503	114749730	SO:0001587	stop_gained	51592	exon15			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2593C>T	1.37:g.114948207G>A	ENSP00000351250:p.Arg865*	Somatic		Capture	Illumina HiSeq	Phase_I	114749730	NM_015906	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Nonsense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.143495	0.97320	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	.	.	.	5.29	3.24	0.37175	.	0.248699	0.40302	N	0.001126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-9.2857	14.4281	0.67230	0.0:0.0:0.7165:0.2835	.	.	.	.	X	865;865;497	.	ENSP00000351250:R865X	R	-	1	2	TRIM33	114749730	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.753000	0.38359	1.294000	0.44707	0.491000	0.48974	CGA		0.478	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
DENND2C	163259	broad.mit.edu	37	1	115165712	115165712	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115165712T>C	ENST00000393274.1	-	6	1577	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	DENND2C_ENST00000393277.1_Missense_Mutation_p.K318E|DENND2C_ENST00000393276.3_Missense_Mutation_p.K318E|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	318					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K318E(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATTTTCTTTGGTGGGATCt	0.353																																					p.K318E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A952G	1						.						116.0	126.0	122.0					1																	115165712		2203	4300	6503	114967235	SO:0001583	missense	163259	exon4				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.952A>G	1.37:g.115165712T>C	ENSP00000376955:p.Lys318Glu	Somatic		Capture	Illumina HiSeq	Phase_I	114967235	NM_198459	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725572	0.89298	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.40476	2.69;3.13;1.03	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.80332	2.49	0.53005	D	0.99996	D;D	0.76494	0.997;0.999	D;D	0.72338	0.938;0.977	T	0.67118	-0.5751	10	0.87932	D	0	.	15.9688	0.79995	0.0:0.0:0.0:1.0	.	318;318	Q68D51;Q68D51-3	DEN2C_HUMAN;.	E	318	ENSP00000376957:K318E;ENSP00000376955:K318E;ENSP00000376958:K318E	ENSP00000358553:K318E	K	-	1	0	DENND2C	114967235	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.434000	0.66526	2.231000	0.72958	0.460000	0.39030	AAA		0.353	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
CSDE1	7812	broad.mit.edu	37	1	115273024	115273024	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115273024C>A	ENST00000358528.4	-	12	1637	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	CSDE1_ENST00000261443.5_Missense_Mutation_p.R373I|CSDE1_ENST00000369530.1_Missense_Mutation_p.R419I|CSDE1_ENST00000530886.1_Missense_Mutation_p.R274I|CSDE1_ENST00000534699.1_Missense_Mutation_p.R404I|CSDE1_ENST00000438362.2_Missense_Mutation_p.R450I|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000339438.6_Missense_Mutation_p.R373I	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	404	CSD 5.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R404I(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATGATTTCTTTGAGCAGA	0.363																																					p.R373I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1118T	1						.						72.0	76.0	75.0					1																	115273024		2203	4300	6503	115074547	SO:0001583	missense	7812	exon11				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1211G>T	1.37:g.115273024C>A	ENSP00000351329:p.Arg404Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115074547	NM_007158	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953956	0.92660	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	5.85	0.93711	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.64170	1.965	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.994	D;D;D	0.87578	0.998;0.995;0.975	T	0.76127	-0.3073	9	0.87932	D	0	-14.4496	20.1731	0.98165	0.0:1.0:0.0:0.0	.	419;404;450	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	I	373;450;404;373;274;419;404	.	ENSP00000261443:R373I	R	-	2	0	CSDE1	115074547	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	AGA		0.363	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
CSDE1	7812	broad.mit.edu	37	1	115275230	115275230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115275230C>A	ENST00000358528.4	-	10	1471	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E318*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E364*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E219*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E349*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.E395*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E318*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	349	CSD 5.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E349*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACCATTTCTCGGGCTTCA	0.308																																					p.E318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G952T	1						.						124.0	123.0	123.0					1																	115275230		2203	4300	6503	115076753	SO:0001587	stop_gained	7812	exon9				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1045G>T	1.37:g.115275230C>A	ENSP00000351329:p.Glu349*	Somatic		Capture	Illumina HiSeq	Phase_I	115076753	NM_007158	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	42	9.751257	0.99255	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.105193	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.6816	20.2374	0.98362	0.0:1.0:0.0:0.0	.	.	.	.	X	318;395;349;318;219;364;349	.	ENSP00000261443:E318X	E	-	1	0	CSDE1	115076753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.787000	0.95880	0.591000	0.81541	GAA		0.308	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
SYCP1	6847	broad.mit.edu	37	1	115428221	115428221	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115428221G>T	ENST00000369522.3	+	13	1216	c.976G>T	c.(976-978)Gat>Tat	p.D326Y	SYCP1_ENST00000369518.1_Missense_Mutation_p.D326Y	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	326					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.D326Y(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAACTAGAAGATATTAAAGT	0.269																																					p.D326Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G976T	1						.						60.0	69.0	66.0					1																	115428221		2194	4280	6474	115229744	SO:0001583	missense	6847	exon13			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.976G>T	1.37:g.115428221G>T	ENSP00000358535:p.Asp326Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	115229744	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065200	0.36470	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.58797	0.31;0.31;0.31	4.9	4.9	0.64082	.	0.398839	0.28268	N	0.015966	T	0.63212	0.2492	L	0.60455	1.87	0.35112	D	0.766236	D;D	0.63046	0.992;0.992	D;D	0.66847	0.947;0.947	T	0.66352	-0.5945	10	0.49607	T	0.09	-15.6961	13.9168	0.63902	0.0:0.0:1.0:0.0	.	326;326	B7ZLS9;Q15431	.;SYCP1_HUMAN	Y	326	ENSP00000358535:D326Y;ENSP00000410011:D326Y;ENSP00000358531:D326Y	ENSP00000358531:D326Y	D	+	1	0	SYCP1	115229744	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	2.915000	0.48805	2.424000	0.82194	0.655000	0.94253	GAT		0.269	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115466095	115466095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115466095G>T	ENST00000369522.3	+	21	1984	c.1744G>T	c.(1744-1746)Gag>Tag	p.E582*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E582*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	582					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E582*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGAGAGAAGAGCTAAAACA	0.259																																					p.E582X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1744T	1						.						29.0	30.0	30.0					1																	115466095		2174	4261	6435	115267618	SO:0001587	stop_gained	6847	exon21			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1744G>T	1.37:g.115466095G>T	ENSP00000358535:p.Glu582*	Somatic		Capture	Illumina HiSeq	Phase_I	115267618	NM_003176	O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.426306	0.97559	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	5.52	4.59	0.56863	.	0.121170	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-8.9847	12.5722	0.56342	0.0:0.1671:0.8329:0.0	.	.	.	.	X	582	.	ENSP00000358531:E582X	E	+	1	0	SYCP1	115267618	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.048000	0.30379	1.432000	0.47375	0.484000	0.47621	GAG		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115487028	115487028	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115487028G>T	ENST00000369522.3	+	24	2235	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q665H	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	665					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.Q665H(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACCTATCAGAAAGAAATTG	0.274																																					p.Q665H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1995T	1						.						35.0	40.0	38.0					1																	115487028		2200	4280	6480	115288551	SO:0001583	missense	6847	exon24			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1995G>T	1.37:g.115487028G>T	ENSP00000358535:p.Gln665His	Somatic		Capture	Illumina HiSeq	Phase_I	115288551	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543319	0.45280	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54675	0.56;0.56;0.56	4.24	0.377	0.16198	.	0.319390	0.28989	N	0.013489	T	0.43100	0.1232	M	0.65975	2.015	0.28380	N	0.91959	P;P	0.49783	0.928;0.928	P;P	0.54965	0.765;0.765	T	0.38436	-0.9661	10	0.62326	D	0.03	-11.0037	6.86	0.24062	0.6608:0.0:0.3392:0.0	.	665;665	B7ZLS9;Q15431	.;SYCP1_HUMAN	H	665	ENSP00000358535:Q665H;ENSP00000410011:Q665H;ENSP00000358531:Q665H	ENSP00000358531:Q665H	Q	+	3	2	SYCP1	115288551	1.000000	0.71417	0.996000	0.52242	0.737000	0.42083	1.177000	0.31969	-0.133000	0.11537	-0.302000	0.09304	CAG		0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
CD58	965	broad.mit.edu	37	1	117087198	117087198	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117087198T>C	ENST00000369489.5	-	2	165	c.99A>G	c.(97-99)atA>atG	p.I33M	CD58_ENST00000369487.3_Missense_Mutation_p.I33M|CD58_ENST00000457047.2_Missense_Mutation_p.I33M	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	33	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.I33M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CAACACCATATATTTGTTGGG	0.353																																					p.I33M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A99G	1						.						38.0	36.0	37.0					1																	117087198		2203	4300	6503	116888721	SO:0001583	missense	965	exon2			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.99A>G	1.37:g.117087198T>C	ENSP00000358501:p.Ile33Met	Somatic		Capture	Illumina HiSeq	Phase_I	116888721	NM_001779	A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954234	0.34471	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.86	-7.72	0.01250	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.563350	0.11700	U	0.538069	T	0.06142	0.0159	N	0.17082	0.46	0.09310	N	1	P;P;P	0.47841	0.901;0.686;0.901	P;P;P	0.52424	0.61;0.507;0.698	T	0.10109	-1.0644	10	0.72032	D	0.01	-1.0068	0.5216	0.00613	0.3873:0.2481:0.151:0.2136	.	33;33;33	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	M	33;33;5;33	ENSP00000358501:I33M;ENSP00000409080:I33M;ENSP00000433648:I5M;ENSP00000358499:I33M	ENSP00000358499:I33M	I	-	3	3	CD58	116888721	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.303000	0.01135	-1.809000	0.01232	-0.444000	0.05651	ATA		0.353	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	
CD2	914	broad.mit.edu	37	1	117297258	117297258	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117297258G>T	ENST00000369478.3	+	2	175	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	CD2_ENST00000369477.1_Missense_Mutation_p.V23F	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	23					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V23F(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TATAGGTGCAGTCTCCAAAGA	0.423																																					p.V23F	NSCLC(14;263 555 26380 43512 51332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67T	1						.						106.0	106.0	106.0					1																	117297258		2203	4300	6503	117098781	SO:0001583	missense	914	exon2			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.67G>T	1.37:g.117297258G>T	ENSP00000358490:p.Val23Phe	Somatic		Capture	Illumina HiSeq	Phase_I	117098781	NM_001767	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	9.449	1.090019	0.20390	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82526	-1.62	4.05	-0.0292	0.13919	.	2.799730	0.01115	N	0.005679	T	0.63141	0.2486	L	0.34521	1.04	0.09310	N	1	P;B;B	0.50369	0.934;0.003;0.306	P;B;B	0.47744	0.556;0.003;0.086	T	0.56486	-0.7971	10	0.54805	T	0.06	0.9879	0.9216	0.01316	0.2128:0.1844:0.4132:0.1896	.	23;23;23	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	F	23	ENSP00000358490:V23F	ENSP00000358489:V23F	V	+	1	0	CD2	117098781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.992000	0.03724	0.124000	0.18369	-0.467000	0.05162	GTC		0.423	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767	
CD101	9398	broad.mit.edu	37	1	117556033	117556033	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117556033G>T	ENST00000256652.4	+	4	905	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	CD101_ENST00000369470.1_Missense_Mutation_p.D283Y	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	283	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D283Y(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCAGTGAAAGATTTTCAAGT	0.478																																					p.D283Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G847T	1						.						127.0	135.0	132.0					1																	117556033		2203	4300	6503	117357556	SO:0001583	missense	9398	exon4			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.847G>T	1.37:g.117556033G>T	ENSP00000256652:p.Asp283Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	117357556	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519223	0.64634	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03831	3.79;3.79	6.06	5.06	0.68205	Immunoglobulin-like (1);	0.463681	0.19944	N	0.102591	T	0.09949	0.0244	M	0.74881	2.28	0.43930	D	0.996581	D	0.76494	0.999	P	0.60789	0.879	T	0.01036	-1.1473	10	0.72032	D	0.01	-5.4844	10.9522	0.47336	0.0927:0.0:0.9073:0.0	.	283	Q93033	IGSF2_HUMAN	Y	283	ENSP00000256652:D283Y;ENSP00000358482:D283Y	ENSP00000256652:D283Y	D	+	1	0	CD101	117357556	0.980000	0.34600	0.996000	0.52242	0.996000	0.88848	1.859000	0.39418	1.411000	0.46957	0.655000	0.94253	GAT		0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
CD101	9398	broad.mit.edu	37	1	117560946	117560946	+	Missense_Mutation	SNP	G	G	A	rs199631117		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117560946G>A	ENST00000256652.4	+	6	1839	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CD101_ENST00000369470.1_Missense_Mutation_p.R594Q	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	594	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R594Q(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGCTTATTCGAATCACCCAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.001		0.0	False		,,,				2504	0.0				p.R594Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1781A	1						.	G	GLN/ARG	0,4406		0,0,2203	128.0	103.0	112.0		1781	-4.2	0.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD101	NM_004258.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	594/1022	117560946	1,13005	2203	4300	6503	117362469	SO:0001583	missense	9398	exon6			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1781G>A	1.37:g.117560946G>A	ENSP00000256652:p.Arg594Gln	Somatic		Capture	Illumina HiSeq	Phase_I	117362469	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.764	0.142116	0.09083	0.0	1.16E-4	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.94417	-3.42;-3.42	5.22	-4.15	0.03881	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.555780	0.03667	N	0.243406	T	0.76608	0.4011	L	0.28400	0.85	0.09310	N	1	B	0.34290	0.447	B	0.23275	0.045	T	0.74768	-0.3553	10	0.23302	T	0.38	-0.0604	7.4644	0.27314	0.6076:0.1439:0.2485:0.0	.	594	Q93033	IGSF2_HUMAN	Q	594	ENSP00000256652:R594Q;ENSP00000358482:R594Q	ENSP00000256652:R594Q	R	+	2	0	CD101	117362469	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-2.114000	0.01329	-0.639000	0.05502	-0.140000	0.14226	CGA		0.502	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
TTF2	8458	broad.mit.edu	37	1	117617695	117617695	+	Silent	SNP	C	C	T	rs537063851		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117617695C>T	ENST00000369466.4	+	5	533	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	163					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.F163F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCAGCTTTTCGATCAAAAGA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18240	0.0		0.0	False		,,,				2504	0.001				p.F163F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	1						.																																			117419218	SO:0001819	synonymous_variant	8458	exon5			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.489C>T	1.37:g.117617695C>T		Somatic		Capture	Illumina HiSeq	Phase_I	117419218	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	CCDS892.1																																																																																				0.413	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
TTF2	8458	broad.mit.edu	37	1	117617822	117617822	+	Missense_Mutation	SNP	G	G	A	rs370194411		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117617822G>A	ENST00000369466.4	+	5	660	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	206					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.A206T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAGTGTGAGGCAGAGACTGG	0.428																																					p.A206T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	1						.	G	THR/ALA	0,4406		0,0,2203	94.0	99.0	97.0		616	1.4	0.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTF2	NM_003594.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	206/1163	117617822	1,13005	2203	4300	6503	117419345	SO:0001583	missense	8458	exon5			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.616G>A	1.37:g.117617822G>A	ENSP00000358478:p.Ala206Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117419345	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	6.451	0.451435	0.12223	0.0	1.16E-4	ENSG00000116830	ENST00000369466	D	0.86769	-2.17	5.86	1.36	0.22044	.	0.749959	0.11126	N	0.596862	T	0.57695	0.2071	N	0.21448	0.665	0.09310	N	1	B;P	0.35793	0.02;0.521	B;B	0.34652	0.011;0.187	T	0.51426	-0.8707	10	0.10636	T	0.68	-0.4503	9.7291	0.40350	0.2993:0.0:0.7007:0.0	.	206;206	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	T	206	ENSP00000358478:A206T	ENSP00000358478:A206T	A	+	1	0	TTF2	117419345	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.122000	0.15687	0.054000	0.16065	-0.127000	0.14921	GCA		0.428	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
VTCN1	79679	broad.mit.edu	37	1	117699271	117699271	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117699271C>A	ENST00000369458.3	-	3	448	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.D29Y|VTCN1_ENST00000359008.4_Missense_Mutation_p.D127Y|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.D124Y(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTGCCAGCATCTGTGAGTTGC	0.448																																					p.D124Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370T	1						.						87.0	85.0	86.0					1																	117699271		2203	4300	6503	117500794	SO:0001583	missense	79679	exon3			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.370G>T	1.37:g.117699271C>A	ENSP00000358470:p.Asp124Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	117500794	NM_024626		Missense_Mutation	SNP	ENST00000369458.3	37	CCDS894.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409201	0.42715	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	D;D;D	0.88124	-2.34;-2.34;-2.34	6.14	5.23	0.72850	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.93939	0.8060	M	0.92169	3.28	0.49130	D	0.999752	D	0.89917	1.0	D	0.97110	1.0	D	0.95372	0.8465	10	0.87932	D	0	-24.7983	14.3247	0.66512	0.1484:0.8516:0.0:0.0	.	124	Q7Z7D3	VTCN1_HUMAN	Y	124;127;29	ENSP00000358470:D124Y;ENSP00000351899:D127Y;ENSP00000444724:D29Y	ENSP00000351899:D127Y	D	-	1	0	VTCN1	117500794	0.998000	0.40836	0.179000	0.23059	0.004000	0.04260	4.070000	0.57548	1.589000	0.49982	0.637000	0.83480	GAT		0.448	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
MAN1A2	10905	broad.mit.edu	37	1	117984940	117984940	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117984940T>G	ENST00000356554.3	+	6	1678	c.943T>G	c.(943-945)Ttg>Gtg	p.L315V		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	315					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L315V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AATGGTGAATTTGAAAAGGTA	0.348																																					p.L315V	Ovarian(33;199 881 8228 13687 31538)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T943G	1						.						104.0	106.0	105.0					1																	117984940		2203	4300	6503	117786463	SO:0001583	missense	10905	exon6			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.943T>G	1.37:g.117984940T>G	ENSP00000348959:p.Leu315Val	Somatic		Capture	Illumina HiSeq	Phase_I	117786463	NM_006699	Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	CCDS895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.90|11.90	1.776492|1.776492	0.31411|0.31411	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000449370|ENST00000356554;ENST00000369450	.|T	.|0.74632	.|-0.86	5.82|5.82	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.72118|0.72118	2.19|2.19	0.48830|0.48830	D|D	0.999719|0.999719	.|B;P	.|0.38148	.|0.382;0.62	.|B;B	.|0.39590	.|0.091;0.304	T|T	0.59397|0.59397	-0.7462|-0.7462	5|10	.|0.41790	.|T	.|0.15	-8.1416|-8.1416	8.3132|8.3132	0.32084|0.32084	0.0:0.7989:0.0:0.2011|0.0:0.7989:0.0:0.2011	.|.	.|79;315	.|A6NLR2;O60476	.|.;MA1A2_HUMAN	M|V	47|315;79	.|ENSP00000348959:L315V	.|ENSP00000348959:L315V	I|L	+|+	3|1	3|2	MAN1A2|MAN1A2	117786463|117786463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.206000|2.206000	0.42779|0.42779	0.616000|0.616000	0.30141|0.30141	-0.326000|-0.326000	0.08463|0.08463	ATT|TTG		0.348	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	
GDAP2	54834	broad.mit.edu	37	1	118454616	118454616	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118454616G>A	ENST00000369443.5	-	5	808	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	GDAP2_ENST00000369442.3_Splice_Site_p.R187C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	187	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.R187C(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TATTACTTACGAAGTGCTATG	0.403																																					p.R187C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C559T	1						.						100.0	91.0	94.0					1																	118454616		2203	4299	6502	118256139	SO:0001630	splice_region_variant	54834	exon5			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.559+1C>T	1.37:g.118454616G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118256139	NM_017686	Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984551	0.74474	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.23950	1.88;1.88	5.22	5.22	0.72569	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67795	-0.5578	9	.	.	.	-9.0828	19.0355	0.92976	0.0:0.0:1.0:0.0	.	187;187	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	C	187	ENSP00000358451:R187C;ENSP00000358450:R187C	.	R	-	1	0	GDAP2	118256139	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.344000	0.65981	2.725000	0.93324	0.644000	0.83932	CGC		0.403	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Missense_Mutation
WDR3	10885	broad.mit.edu	37	1	118499758	118499758	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118499758G>A	ENST00000349139.5	+	25	2568	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	841						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E841K(2)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACTCTTTAACGAATTCATTCA	0.388																																					p.E841K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2521A	1						.						189.0	189.0	189.0					1																	118499758		2203	4300	6503	118301281	SO:0001583	missense	10885	exon25			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2521G>A	1.37:g.118499758G>A	ENSP00000308179:p.Glu841Lys	Somatic		Capture	Illumina HiSeq	Phase_I	118301281	NM_006784		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	8.260	0.811079	0.16537	.	.	ENSG00000065183	ENST00000349139	T	0.51817	0.69	5.99	5.03	0.67393	.	0.427811	0.29119	N	0.013098	T	0.16128	0.0388	L	0.28649	0.875	0.28183	N	0.928066	B	0.25441	0.126	B	0.22753	0.041	T	0.07809	-1.0753	10	0.06365	T	0.9	-17.1943	16.0427	0.80695	0.0:0.2361:0.7639:0.0	.	841	Q9UNX4	WDR3_HUMAN	K	841	ENSP00000308179:E841K	ENSP00000308179:E841K	E	+	1	0	WDR3	118301281	0.674000	0.27549	0.413000	0.26509	0.900000	0.52787	2.443000	0.44881	2.836000	0.97738	0.609000	0.83330	GAA		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
SPAG17	200162	broad.mit.edu	37	1	118550748	118550748	+	Silent	SNP	G	G	A	rs201804334	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118550748G>A	ENST00000336338.5	-	31	4571	c.4506C>T	c.(4504-4506)atC>atT	p.I1502I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1502						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.I1502I(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACAGTTGGCGATAACAGTGG	0.502													G|||	12	0.00239617	0.0	0.0	5008	,	,		19858	0.0		0.0	False		,,,				2504	0.0123				p.I1502I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4506T	1						.	G		0,4406		0,0,2203	153.0	123.0	133.0		4506	3.6	1.0	1		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPAG17	NM_206996.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1502/2224	118550748	1,13005	2203	4300	6503	118352271	SO:0001819	synonymous_variant	200162	exon31				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4506C>T	1.37:g.118550748G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118352271	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.502	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118596691	118596691	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118596691C>A	ENST00000336338.5	-	20	2813	c.2748G>T	c.(2746-2748)gaG>gaT	p.E916D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	916						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E916D(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCTGATATCTCTGTTTTGC	0.318																																					p.E916D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2748T	1						.						44.0	44.0	44.0					1																	118596691		2198	4297	6495	118398214	SO:0001583	missense	200162	exon20				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2748G>T	1.37:g.118596691C>A	ENSP00000337804:p.Glu916Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118398214	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539829	0.27563	.	.	ENSG00000155761	ENST00000336338	T	0.29142	1.58	5.35	-5.82	0.02333	.	1.253740	0.04974	N	0.464390	T	0.04227	0.0117	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.27502	-1.0072	10	0.19590	T	0.45	.	0.6881	0.00887	0.3306:0.2087:0.1084:0.3523	.	916	Q6Q759	SPG17_HUMAN	D	916	ENSP00000337804:E916D	ENSP00000337804:E916D	E	-	3	2	SPAG17	118398214	0.000000	0.05858	0.002000	0.10522	0.336000	0.28762	-1.091000	0.03369	-0.885000	0.03971	-0.150000	0.13652	GAG		0.318	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118635863	118635863	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118635863C>A	ENST00000336338.5	-	8	1154	c.1089G>T	c.(1087-1089)caG>caT	p.Q363H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	363						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q363H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAAATAGTGCTGGTGCTGCC	0.413																																					p.Q363H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1089T	1						.						113.0	102.0	106.0					1																	118635863		2203	4299	6502	118437386	SO:0001583	missense	200162	exon8				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1089G>T	1.37:g.118635863C>A	ENSP00000337804:p.Gln363His	Somatic		Capture	Illumina HiSeq	Phase_I	118437386	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701801	0.30232	.	.	ENSG00000155761	ENST00000336338	T	0.69306	-0.39	5.64	0.388	0.16264	.	0.580802	0.18656	N	0.134866	T	0.24353	0.0590	N	0.21583	0.68	0.20307	N	0.999915	B	0.15473	0.013	B	0.17098	0.017	T	0.21348	-1.0248	10	0.33940	T	0.23	.	5.0699	0.14602	0.245:0.4848:0.0:0.2702	.	363	Q6Q759	SPG17_HUMAN	H	363	ENSP00000337804:Q363H	ENSP00000337804:Q363H	Q	-	3	2	SPAG17	118437386	0.072000	0.21174	0.996000	0.52242	0.971000	0.66376	-0.598000	0.05706	0.026000	0.15269	0.591000	0.81541	CAG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
ZNF697	90874	broad.mit.edu	37	1	120168685	120168685	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120168685C>A	ENST00000421812.2	-	2	158	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q13H(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CTTCTGAGTCCTGGTGTGCAC	0.473																																					p.Q13H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G39T	1						.						188.0	183.0	185.0					1																	120168685		1898	4114	6012	119970208	SO:0001583	missense	90874	exon2			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.39G>T	1.37:g.120168685C>A	ENSP00000396857:p.Gln13His	Somatic		Capture	Illumina HiSeq	Phase_I	119970208	NM_001080470	Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978459	0.18812	.	.	ENSG00000143067	ENST00000421812	T	0.09538	2.97	4.32	1.22	0.21188	.	.	.	.	.	T	0.02649	0.0080	L	0.27053	0.805	0.22050	N	0.9994	P	0.44578	0.838	B	0.41691	0.364	T	0.39643	-0.9604	9	0.52906	T	0.07	.	6.0238	0.19644	0.0:0.6405:0.0:0.3595	.	13	Q5TEC3	ZN697_HUMAN	H	13	ENSP00000396857:Q13H	ENSP00000396857:Q13H	Q	-	3	2	ZNF697	119970208	0.952000	0.32445	0.609000	0.28983	0.257000	0.26127	0.119000	0.15626	0.280000	0.22209	-0.258000	0.10820	CAG		0.473	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286	
NBPF7	343505	broad.mit.edu	37	1	120384140	120384140	+	IGR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120384140T>G								REG4 (29857 upstream) : ADAM30 (52015 downstream)														p.H141P(1)									ATTCAGTGAGTGGGAGGCATC	0.527																																					p.H141P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A422C	1						.						133.0	149.0	143.0					1																	120384140		2203	4300	6503	120185663	SO:0001628	intergenic_variant	343505	exon3																															1.37:g.120384140T>G		Somatic		Capture	Illumina HiSeq	Phase_I	120185663	NM_001047980		Missense_Mutation	SNP		37																																																																																				0	0.527								
ADAM30	11085	broad.mit.edu	37	1	120438330	120438330	+	Silent	SNP	G	G	T	rs143465589		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120438330G>T	ENST00000369400.1	-	1	788	c.630C>A	c.(628-630)ctC>ctA	p.L210L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	210	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L210L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTGATCAAAGAGTAGGATCA	0.398																																					p.L210L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C630A	1						.						102.0	105.0	104.0					1																	120438330		2203	4300	6503	120239853	SO:0001819	synonymous_variant	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.630C>A	1.37:g.120438330G>T		Somatic		Capture	Illumina HiSeq	Phase_I	120239853	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	CCDS907.1																																																																																				0.398	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
ADAM30	11085	broad.mit.edu	37	1	120438693	120438693	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120438693G>A	ENST00000369400.1	-	1	425	c.267C>T	c.(265-267)cgC>cgT	p.R89R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	89					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R89R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGAGAAAACGCGCAGATGTC	0.517																																					p.R89R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	1						.						71.0	66.0	68.0					1																	120438693		2203	4300	6503	120240216	SO:0001819	synonymous_variant	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.267C>T	1.37:g.120438693G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120240216	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	CCDS907.1																																																																																				0.517	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
NOTCH2	4853	broad.mit.edu	37	1	120462193	120462193	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120462193G>A	ENST00000256646.2	-	31	5742	c.5523C>T	c.(5521-5523)agC>agT	p.S1841S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1841					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S1841S(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAATCTGAGCTGCCTCCTC	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.S1841S			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5523T	1						.						49.0	43.0	45.0					1																	120462193		2203	4300	6503	120263716	SO:0001819	synonymous_variant	4853	exon31	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5523C>T	1.37:g.120462193G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120263716	NM_024408	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
VPS13D	55187	broad.mit.edu	37	1	12337663	12337663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12337663G>A	ENST00000358136.3	+	19	4148	c.4018G>A	c.(4018-4020)Gta>Ata	p.V1340I	VPS13D_ENST00000356315.4_Missense_Mutation_p.V1340I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V1340I(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAGCGAGATGGTATCGCTCTT	0.443																																					p.V1340I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4018A	1						.						79.0	79.0	79.0					1																	12337663		2203	4300	6503	12260250	SO:0001583	missense	55187	exon19			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4018G>A	1.37:g.12337663G>A	ENSP00000350854:p.Val1340Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12260250	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.63|16.63	3.177388|3.177388	0.57692|0.57692	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52983|.	0.64;0.65|.	5.91|5.91	5.0|5.0	0.66597|0.66597	.|.	0.065915|.	0.64402|.	N|.	0.000012|.	T|.	0.56485|.	0.1988|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.983|.	D;P|.	0.77557|.	0.99;0.672|.	T|.	0.53019|.	-0.8497|.	10|.	0.33141|.	T|.	0.24|.	.|.	15.3685|15.3685	0.74541|0.74541	0.0668:0.0:0.9332:0.0|0.0668:0.0:0.9332:0.0	.|.	1340;1340|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	I|X	1340|162	ENSP00000348666:V1340I;ENSP00000350854:V1340I|.	ENSP00000348666:V1340I|.	V|W	+|+	1|3	0|0	VPS13D|VPS13D	12260250|12260250	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.928000|0.928000	0.56348|0.56348	7.658000|7.658000	0.83755|0.83755	1.500000|1.500000	0.48636|0.48636	0.655000|0.655000	0.94253|0.94253	GTA|TGG		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12416013	12416013	+	Missense_Mutation	SNP	A	A	C	rs146589155		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12416013A>C	ENST00000358136.3	+	48	9867	c.9737A>C	c.(9736-9738)cAa>cCa	p.Q3246P	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3221P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.Q3246P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAACCCAAAACTATATG	0.438																																					p.Q3221P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9662C	1						.						103.0	96.0	98.0					1																	12416013		2203	4300	6503	12338600	SO:0001583	missense	55187	exon47			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9737A>C	1.37:g.12416013A>C	ENSP00000350854:p.Gln3246Pro	Somatic		Capture	Illumina HiSeq	Phase_I	12338600	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944971|3.944971	0.73672|0.73672	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53423	.|0.62;0.62	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48040|0.48040	0.1478|0.1478	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.57257	.|0.979;0.964	.|P;B	.|0.52646	.|0.705;0.406	T|T	0.33879|0.33879	-0.9851|-0.9851	5|10	.|0.25106	.|T	.|0.35	.|.	16.3158|16.3158	0.82923|0.82923	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3221;3245	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Q|P	2068|3221;3246	.|ENSP00000348666:Q3221P;ENSP00000350854:Q3246P	.|ENSP00000348666:Q3221P	K|Q	+|+	1|2	0|0	VPS13D|VPS13D	12338600|12338600	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	8.935000|8.935000	0.92923|0.92923	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12433907	12433907	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12433907A>G	ENST00000358136.3	+	55	11041	c.10911A>G	c.(10909-10911)aaA>aaG	p.K3637K	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.K3612K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.K3637K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATTTTAAAAAAGAAGGTAA	0.463																																					p.K3612K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A10836G	1						.						37.0	38.0	37.0					1																	12433907		2203	4300	6503	12356494	SO:0001819	synonymous_variant	55187	exon54			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10911A>G	1.37:g.12433907A>G		Somatic		Capture	Illumina HiSeq	Phase_I	12356494	NM_018156		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289222	0.23478	.	.	ENSG00000048707	ENST00000011700	T	0.38722	1.12	5.6	1.48	0.22813	.	0.168486	0.64402	D	0.000017	T	0.34221	0.0890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03945	-1.0990	7	0.15952	T	0.53	.	9.6031	0.39617	0.3681:0.0:0.6319:0.0	.	.	.	.	R	2459	ENSP00000011700:K2459R	ENSP00000011700:K2459R	K	+	2	0	VPS13D	12356494	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.367000	0.44213	0.045000	0.15804	-0.177000	0.13119	AAA		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
DHRS3	9249	broad.mit.edu	37	1	12639429	12639429	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12639429G>T	ENST00000376223.2	-	3	734	c.351C>A	c.(349-351)atC>atA	p.I117I	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	117					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.I117I(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCAGGATGGTGATGTCACCCA	0.552																																					p.I117I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351A	1						.						95.0	75.0	82.0					1																	12639429		2203	4300	6503	12562016	SO:0001819	synonymous_variant	9249	exon3			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.351C>A	1.37:g.12639429G>T		Somatic		Capture	Illumina HiSeq	Phase_I	12562016	NM_004753	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Silent	SNP	ENST00000376223.2	37	CCDS146.1																																																																																				0.552	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
HNRNPCL1	343069	broad.mit.edu	37	1	12908113	12908113	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12908113A>G	ENST00000317869.6	-	2	255	c.30T>C	c.(28-30)gaT>gaC	p.D10D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	10						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D10D(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAGTGAGGATCCATCTTGT	0.448																																					p.D10D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T30C	1						.						180.0	167.0	171.0					1																	12908113		2203	4300	6503	12830700	SO:0001819	synonymous_variant	343069	exon1			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.30T>C	1.37:g.12908113A>G		Somatic		Capture	Illumina HiSeq	Phase_I	12830700	NM_001146181	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																				0.448	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
PRAMEF2	65122	broad.mit.edu	37	1	12918906	12918906	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12918906G>A	ENST00000240189.2	+	2	129	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	14					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G14G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGGCGGGGCAGAGCCTGC	0.562																																					p.G14G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	1						.						86.0	97.0	93.0					1																	12918906		2201	4297	6498	12841493	SO:0001819	synonymous_variant	65122	exon2				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.42G>A	1.37:g.12918906G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12841493	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																				0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PRAMEF10	343071	broad.mit.edu	37	1	12954631	12954631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12954631G>A	ENST00000235347.4	-	3	731	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	218					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L218F(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTATTGAGAGAGCACTTT	0.443																																					p.L218F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652T	1						.						1.0	1.0	1.0					1																	12954631		553	1028	1581	12877218	SO:0001583	missense	343071	exon3			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.652C>T	1.37:g.12954631G>A	ENSP00000235347:p.Leu218Phe	Somatic		Capture	Illumina HiSeq	Phase_I	12877218	NM_001039361	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	7.727	0.698522	0.15106	.	.	ENSG00000187545	ENST00000235347	T	0.22945	1.93	1.68	0.722	0.18225	.	0.647051	0.14206	N	0.334400	T	0.35189	0.0923	M	0.64170	1.965	0.09310	N	1	D	0.63880	0.993	P	0.57776	0.827	T	0.12889	-1.0530	10	0.66056	D	0.02	.	4.0819	0.09931	0.2278:0.0:0.7722:0.0	.	218	O60809	PRA10_HUMAN	F	218	ENSP00000235347:L218F	ENSP00000235347:L218F	L	-	1	0	PRAMEF10	12877218	0.001000	0.12720	0.006000	0.13384	0.011000	0.07611	0.500000	0.22562	0.271000	0.22005	0.194000	0.17425	CTC		0.443	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342	
PRAMEF22	653606	broad.mit.edu	37	1	13036638	13036638	+	Missense_Mutation	SNP	G	G	A	rs374799332		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:13036638G>A	ENST00000376187.1	+	2	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	237					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R237H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						AGGAATCTTCGCAAACTCTTC	0.478																																					p.R237H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	1						.						151.0	177.0	168.0					1																	13036638		2201	4297	6498	12959225	SO:0001583	missense	653606	exon2					1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.710G>A	1.37:g.13036638G>A	ENSP00000365358:p.Arg237His	Somatic		Capture	Illumina HiSeq	Phase_I	12959225	NM_001100631	A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	CCDS41256.1	.	.	.	.	.	.	.	.	.	.	.	5.503	0.277730	0.10403	.	.	ENSG00000204508	ENST00000376187	T	0.20881	2.04	1.18	-0.479	0.12089	.	1.626380	0.03452	N	0.210871	T	0.14141	0.0342	L	0.41573	1.285	0.09310	N	1	B	0.31174	0.311	B	0.19148	0.024	T	0.15896	-1.0421	10	0.24483	T	0.36	.	3.2519	0.06818	0.6979:0.0:0.3021:0.0	.	237	A3QJZ6	PRA22_HUMAN	H	237	ENSP00000365358:R237H	ENSP00000365358:R237H	R	+	2	0	PRAMEF22	12959225	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.419000	0.07071	-0.081000	0.12662	0.194000	0.17425	CGC		0.478	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631	
PRAMEF20	645425	broad.mit.edu	37	1	13743050	13743050	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:13743050C>T	ENST00000602960.1	+	1	243	c.239C>T	c.(238-240)gCt>gTt	p.A80V	PRAMEF20_ENST00000316412.5_Missense_Mutation_p.A80V			Q5VT98	PRA20_HUMAN	PRAME family member 20	80					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A80V(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCCAAGCTGTGCTCGAT	0.607																																					p.A80V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239T	1						.						66.0	67.0	67.0					1																	13743050		2190	4268	6458	13615637	SO:0001583	missense	645425	exon2				CCDS41265.1	1p36.21	2014-07-15			ENSG00000204478	ENSG00000204478		"""-"""	25224	protein-coding gene	gene with protein product			"""PRAME family member 21"""	PRAMEF21			Standard	NM_001099852		Approved	OTTHUMG00000007911, OTTHUMT00000008157	uc009vnv.1	Q5VT98	OTTHUMG00000007911	ENST00000602960.1:c.239C>T	1.37:g.13743050C>T	ENSP00000473584:p.Ala80Val	Somatic		Capture	Illumina HiSeq	Phase_I	13615637	NM_001099852		Missense_Mutation	SNP	ENST00000602960.1	37	CCDS41265.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.273359	0.40194	.	.	ENSG00000204478	ENST00000316412	T	0.04758	3.56	1.51	0.551	0.17225	.	0.132268	0.48767	N	0.000161	T	0.11537	0.0281	M	0.85299	2.745	0.09310	N	1	.	.	.	.	.	.	T	0.06391	-1.0829	8	0.66056	D	0.02	.	3.9408	0.09326	0.0:0.7627:0.0:0.2373	.	.	.	.	V	80	ENSP00000346275:A80V	ENSP00000346275:A80V	A	+	2	0	PRAMEF20	13615637	0.002000	0.14202	0.001000	0.08648	0.257000	0.26127	0.927000	0.28818	0.216000	0.20781	0.306000	0.20318	GCT		0.607	PRAMEF20-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021782.1	NM_001099852	
NOTCH2	4853	broad.mit.edu	37	1	120483183	120483183	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:120483183A>C	ENST00000256646.2	-	19	3397	c.3178T>G	c.(3178-3180)Tgt>Ggt	p.C1060G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1060	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C1060G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTACCTGACAGTTTTTCCCA	0.483			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.C1060G			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3178G	1						.						126.0	125.0	125.0					1																	120483183		2203	4300	6503	120284706	SO:0001583	missense	4853	exon19	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3178T>G	1.37:g.120483183A>C	ENSP00000256646:p.Cys1060Gly	Somatic		Capture	Illumina HiSeq	Phase_I	120284706	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366548	0.82463	.	.	ENSG00000134250	ENST00000256646	D	0.99683	-6.39	5.6	5.6	0.85130	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41194	U	0.000921	D	0.99904	0.9954	H	0.99958	5.055	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.995;0.996	D	0.95872	0.8892	10	0.87932	D	0	.	14.9658	0.71193	1.0:0.0:0.0:0.0	.	1060;1060	Q6IQ50;Q04721	.;NOTC2_HUMAN	G	1060	ENSP00000256646:C1060G	ENSP00000256646:C1060G	C	-	1	0	NOTCH2	120284706	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.832000	0.92079	2.133000	0.65898	0.460000	0.39030	TGT		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	broad.mit.edu	37	1	144930647	144930647	+	Intron	SNP	C	C	A	rs201813121		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:144930647C>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E354D|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E354D|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E354D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTCTGAAAGCTCCAAGGGAT	0.483			T	PDGFRB	MPD																																p.E354D			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	1						.						90.0	97.0	95.0					1																	144930647		2203	4300	6503	143642004	SO:0001627	intron_variant	9659	exon1			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6826G>T	1.37:g.144930647C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143642004	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172930	0.38413	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.13089	2.62;2.62	5.58	1.42	0.22433	.	.	.	.	.	T	0.02888	0.0086	N	0.25426	0.745	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.29212	-1.0019	9	0.42905	T	0.14	.	4.3684	0.11235	0.0:0.4972:0.1586:0.3442	.	354	Q5VU43-2	.	D	354	ENSP00000316434:E354D;ENSP00000433392:E354D	ENSP00000316434:E354D	E	-	3	2	PDE4DIP	143642004	0.978000	0.34361	1.000000	0.80357	0.932000	0.56968	0.341000	0.19909	0.324000	0.23333	0.650000	0.86243	GAG		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	broad.mit.edu	37	1	144931041	144931041	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:144931041C>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S223I|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S223I|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S223I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TACCTTTGTGCTTGCTAAGTC	0.562			T	PDGFRB	MPD																																p.S223I			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668T	1						.						91.0	93.0	92.0					1																	144931041		2203	4300	6503	143642398	SO:0001627	intron_variant	9659	exon1			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7220G>T	1.37:g.144931041C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143642398	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.101045	0.20552	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11712	2.75;2.75	4.96	0.91	0.19337	.	.	.	.	.	T	0.02888	0.0086	L	0.51422	1.61	0.09310	N	0.999998	B	0.28998	0.23	B	0.26770	0.073	T	0.42832	-0.9428	9	0.38643	T	0.18	.	4.6215	0.12455	0.0:0.4999:0.1525:0.3476	.	223	Q5VU43-2	.	I	223	ENSP00000316434:S223I;ENSP00000433392:S223I	ENSP00000316434:S223I	S	-	2	0	PDE4DIP	143642398	0.000000	0.05858	0.003000	0.11579	0.985000	0.73830	0.219000	0.17641	-0.081000	0.12662	0.313000	0.20887	AGC		0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	broad.mit.edu	37	1	144931500	144931500	+	Intron	SNP	C	C	A	rs199502396		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:144931500C>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R70L|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R70L|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R70L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCTTCAATCCGGGCAATAAC	0.493			T	PDGFRB	MPD																																p.R70L			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209T	1						.						122.0	130.0	127.0					1																	144931500		2203	4300	6503	143642857	SO:0001627	intron_variant	9659	exon1			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7679G>T	1.37:g.144931500C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143642857	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548137	0.65311	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.37235	1.21;1.25	5.3	5.3	0.74995	.	.	.	.	.	T	0.52175	0.1718	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56147	-0.8027	9	0.87932	D	0	.	16.4368	0.83878	0.0:1.0:0.0:0.0	.	70	Q5VU43-2	.	L	70	ENSP00000316434:R70L;ENSP00000433392:R70L	ENSP00000316434:R70L	R	-	2	0	PDE4DIP	143642857	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	7.818000	0.86416	2.467000	0.83353	0.462000	0.41574	CGG		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	broad.mit.edu	37	1	144931700	144931700	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:144931700C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Silent_p.E3E|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Silent_p.E3E|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E3E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGCAAATCTCCTTCATCT	0.622			T	PDGFRB	MPD																																p.E3E			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9A	1						.						37.0	39.0	39.0					1																	144931700		2203	4300	6503	143643057	SO:0001627	intron_variant	9659	exon1			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7879G>A	1.37:g.144931700C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143643057	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.622	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
SEC22B	9554	broad.mit.edu	37	1	145112390	145112390	+	RNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145112390A>G	ENST00000453618.1	+	0	691							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CATTCAGAAAACCAAGAAGCT	0.408																																					p.T122A												.	.	0			c.A364G	1						.						119.0	104.0	109.0					1																	145112390		2018	4185	6203	143823747			9554	exon4			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112390A>G		Somatic		Capture	Illumina HiSeq	Phase_I	143823747	NM_004892	A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37																																																																																					0.408	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892	
SEC22B	9554	broad.mit.edu	37	1	145115792	145115792	+	RNA	SNP	C	C	T	rs201239485		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145115792C>T	ENST00000453618.1	+	0	878							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CGCCAGGATGCGAAGTACTTG	0.398																																					p.A184V												.	.	0			c.C551T	1						.	C	VAL/ALA	5,4025		0,5,2010	210.0	207.0	208.0		551	6.2	1.0	1		208	14,8362		0,14,4174	yes	missense	SEC22B	NM_004892.4	64	0,19,6184	TT,TC,CC		0.1671,0.1241,0.1532	probably-damaging	184/216	145115792	19,12387	2015	4188	6203	143827149			9554	exon5			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115792C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143827149	NM_004892	A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37																																																																																					0.398	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892	
NOTCH2NL	388677	broad.mit.edu	37	1	145273434	145273434	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145273434C>T	ENST00000369340.3	+	4	732	c.288C>T	c.(286-288)gtC>gtT	p.V96V	RP11-458D21.5_ENST00000468030.1_Silent_p.V96V|NOTCH2NL_ENST00000362074.6_Silent_p.V96V|NOTCH2NL_ENST00000344859.3_Silent_p.V96V			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	96	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V96V(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTGTCAAGTCGGGTTTACAG	0.463																																					p.V96V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C288T	1						.						296.0	304.0	301.0					1																	145273434		2203	4300	6503	143984791	SO:0001819	synonymous_variant	388677	exon3				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.288C>T	1.37:g.145273434C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143984791	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	CCDS909.1																																																																																				0.463	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458	
TXNIP	10628	broad.mit.edu	37	1	145438828	145438828	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145438828C>A	ENST00000369317.4	+	1	360	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	9					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.S9Y(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGATCAAGTCTTTTGAGGTG	0.458																																					p.S9Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C26A	1						.						97.0	94.0	95.0					1																	145438828		2203	4300	6503	144150185	SO:0001583	missense	10628	exon1			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.26C>A	1.37:g.145438828C>A	ENSP00000358323:p.Ser9Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	144150185	NM_006472	B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032784	0.54790	.	.	ENSG00000117289	ENST00000369317	T	0.09538	2.97	5.64	5.64	0.86602	.	0.657828	0.16039	N	0.232503	T	0.05273	0.0140	L	0.39898	1.24	0.36127	D	0.845887	B	0.25955	0.138	B	0.19391	0.025	T	0.10086	-1.0645	10	0.66056	D	0.02	-29.6416	12.861	0.57913	0.0:0.8362:0.1638:0.0	.	9	Q9H3M7	TXNIP_HUMAN	Y	9	ENSP00000358323:S9Y	ENSP00000358323:S9Y	S	+	2	0	TXNIP	144150185	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.621000	0.24418	2.665000	0.90641	0.655000	0.94253	TCT		0.458	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
ANKRD34A	284615	broad.mit.edu	37	1	145474701	145474701	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145474701C>T	ENST00000323397.4	+	4	2666	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	458	Pro-rich.					cytoplasm (GO:0005737)		p.A458V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATGCCGGGGCGCCAGGCTCT	0.652																																					p.A458V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1373T	1						.						20.0	23.0	22.0					1																	145474701		2202	4298	6500	144186058	SO:0001583	missense	284615	exon4			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1373C>T	1.37:g.145474701C>T	ENSP00000314103:p.Ala458Val	Somatic		Capture	Illumina HiSeq	Phase_I	144186058	NM_001039888	B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223726	0.22457	.	.	ENSG00000181039	ENST00000323397	T	0.20463	2.07	5.32	2.22	0.28083	.	2.151500	0.02162	N	0.058854	T	0.03434	0.0099	N	0.08118	0	0.31909	N	0.614911	B	0.14012	0.009	B	0.12837	0.008	T	0.23904	-1.0175	10	0.17369	T	0.5	-1.8282	6.7127	0.23286	0.0:0.6541:0.158:0.1878	.	458	Q69YU3	AN34A_HUMAN	V	458	ENSP00000314103:A458V	ENSP00000314103:A458V	A	+	2	0	ANKRD34A	144186058	0.941000	0.31946	1.000000	0.80357	0.949000	0.60115	0.458000	0.21892	0.771000	0.33359	0.650000	0.86243	GCG		0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1		
PEX11B	8799	broad.mit.edu	37	1	145522863	145522863	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145522863T>C	ENST00000369306.3	+	4	873	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.S228P|ITGA10_ENST00000538811.1_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	242	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)	p.S242P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCTCGTGTCCTCCATCCT	0.547																																					p.S228P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T682C	1						.						133.0	113.0	120.0					1																	145522863		2203	4300	6503	144234220	SO:0001583	missense	8799	exon4			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.724T>C	1.37:g.145522863T>C	ENSP00000358312:p.Ser242Pro	Somatic		Capture	Illumina HiSeq	Phase_I	144234220	NM_001184795	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	CCDS917.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234739	0.79800	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T;T	0.63417	-0.04;-0.04;-0.04	5.44	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.56746	0.977;0.977	P;P	0.59357	0.856;0.856	T	0.74951	-0.3489	10	0.87932	D	0	-11.5053	10.908	0.47092	0.0:0.0:0.1575:0.8425	.	228;242	B4DXH9;O96011	.;PX11B_HUMAN	P	242;228;64	ENSP00000358312:S242P;ENSP00000437510:S228P;ENSP00000414018:S64P	ENSP00000358312:S242P	S	+	1	0	PEX11B	144234220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.518000	0.81795	1.065000	0.40693	-0.313000	0.08912	TCC		0.547	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846	
ITGA10	8515	broad.mit.edu	37	1	145538263	145538263	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145538263G>T	ENST00000369304.3	+	23	2965	c.2790G>T	c.(2788-2790)caG>caT	p.Q930H	ITGA10_ENST00000539363.1_Missense_Mutation_p.Q787H|ITGA10_ENST00000538811.1_Missense_Mutation_p.Q799H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	930					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.Q930H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACACAGCCCAGACCTCAGCCT	0.542																																					p.Q930H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2790T	1						.						181.0	149.0	160.0					1																	145538263		2203	4300	6503	144249620	SO:0001583	missense	8515	exon23			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2790G>T	1.37:g.145538263G>T	ENSP00000358310:p.Gln930His	Somatic		Capture	Illumina HiSeq	Phase_I	144249620	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739713	0.30865	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.50277	0.75;0.75;0.75	5.8	5.8	0.92144	Integrin alpha-2 (1);	0.068905	0.64402	D	0.000016	T	0.23806	0.0576	L	0.29908	0.895	0.43657	D	0.99607	B;B;P;B	0.34997	0.094;0.151;0.479;0.115	B;B;B;B	0.34242	0.039;0.064;0.178;0.066	T	0.10474	-1.0628	10	0.48119	T	0.1	.	12.4957	0.55927	0.0:0.0:0.8331:0.1669	.	896;799;787;930	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	930;896;787;799	ENSP00000358310:Q930H;ENSP00000439894:Q787H;ENSP00000440011:Q799H	ENSP00000358310:Q930H	Q	+	3	2	ITGA10	144249620	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.302000	0.33459	2.755000	0.94549	0.655000	0.94253	CAG		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ANKRD35	148741	broad.mit.edu	37	1	145555808	145555808	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145555808G>A	ENST00000355594.4	+	2	243	c.156G>A	c.(154-156)tcG>tcA	p.S52S	ANKRD35_ENST00000544626.1_Silent_p.S52S	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	52								p.S52S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTTGACTCGAATGGCCAGT	0.592																																					p.S52S	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G156A	1						.						58.0	63.0	61.0					1																	145555808		2203	4300	6503	144267165	SO:0001819	synonymous_variant	148741	exon2			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.156G>A	1.37:g.145555808G>A		Somatic		Capture	Illumina HiSeq	Phase_I	144267165	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	CCDS919.1																																																																																				0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
ANKRD35	148741	broad.mit.edu	37	1	145561856	145561856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145561856G>T	ENST00000355594.4	+	10	1631	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	515								p.R515I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTTGTCAAGACCGGTCATG	0.637																																					p.R515I	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544T	1						.						84.0	101.0	95.0					1																	145561856		2202	4299	6501	144273213	SO:0001583	missense	148741	exon10			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1544G>T	1.37:g.145561856G>T	ENSP00000347802:p.Arg515Ile	Somatic		Capture	Illumina HiSeq	Phase_I	144273213	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	7.663	0.685383	0.14973	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.72051	-0.62	5.24	4.33	0.51752	.	0.232081	0.30686	N	0.009086	T	0.64832	0.2634	M	0.70595	2.14	0.20926	N	0.999825	D	0.61080	0.989	P	0.53450	0.726	T	0.58901	-0.7554	10	0.40728	T	0.16	-7.3963	9.5095	0.39067	0.0948:0.0:0.9052:0.0	.	515	Q8N283	ANR35_HUMAN	I	424;515	ENSP00000347802:R515I	ENSP00000347802:R515I	R	+	2	0	ANKRD35	144273213	0.970000	0.33590	0.016000	0.15963	0.046000	0.14306	2.235000	0.43044	1.429000	0.47314	0.655000	0.94253	AGA		0.637	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
ANKRD35	148741	broad.mit.edu	37	1	145562174	145562174	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145562174G>T	ENST00000355594.4	+	10	1949	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	621								p.R621I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAGTACTGAGACTGAGCAAC	0.622																																					p.R621I	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862T	1						.						46.0	51.0	49.0					1																	145562174		2203	4299	6502	144273531	SO:0001583	missense	148741	exon10			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1862G>T	1.37:g.145562174G>T	ENSP00000347802:p.Arg621Ile	Somatic		Capture	Illumina HiSeq	Phase_I	144273531	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846154	0.51164	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.53640	0.61	4.6	4.6	0.57074	.	0.000000	0.47852	D	0.000201	T	0.58466	0.2124	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.61307	-0.7089	10	0.54805	T	0.06	-12.7836	12.7794	0.57469	0.0:0.0:1.0:0.0	.	621	Q8N283	ANR35_HUMAN	I	530;621	ENSP00000347802:R621I	ENSP00000347802:R621I	R	+	2	0	ANKRD35	144273531	0.961000	0.32948	0.782000	0.31804	0.948000	0.59901	1.982000	0.40638	2.385000	0.81259	0.563000	0.77884	AGA		0.622	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
CD160	11126	broad.mit.edu	37	1	145704250	145704250	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145704250A>C	ENST00000369288.2	-	4	384	c.167T>G	c.(166-168)tTt>tGt	p.F56C	CD160_ENST00000235933.6_Missense_Mutation_p.F56C|CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.F56C	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	56	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F56C(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAACACTACAAACCCCTCAGC	0.453																																					p.F56C	Colon(182;1122 1999 4065 44014 53024)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T167G	1						.						101.0	96.0	97.0					1																	145704250		2203	4300	6503	144415607	SO:0001583	missense	11126	exon4			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.167T>G	1.37:g.145704250A>C	ENSP00000358294:p.Phe56Cys	Somatic		Capture	Illumina HiSeq	Phase_I	144415607	NM_007053		Missense_Mutation	SNP	ENST00000369288.2	37	CCDS923.1	.	.	.	.	.	.	.	.	.	.	A	3.999	-0.002853	0.07773	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03330	3.97;3.97;3.97	4.34	0.653	0.17828	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.815870	0.03033	N	0.152417	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	P	0.37276	0.589	B	0.30401	0.115	T	0.42015	-0.9476	10	0.62326	D	0.03	5.1095	3.7906	0.08718	0.5882:0.2021:0.2096:0.0	.	56	O95971	BY55_HUMAN	C	56	ENSP00000235933:F56C;ENSP00000358294:F56C;ENSP00000385199:F56C	ENSP00000235933:F56C	F	-	2	0	CD160	144415607	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.183000	0.16919	-0.050000	0.13356	0.460000	0.39030	TTT		0.453	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053	
PRKAB2	5565	broad.mit.edu	37	1	146634020	146634020	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:146634020G>T	ENST00000254101.3	-	6	809	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	PRKAB2_ENST00000496858.1_5'UTR|PRKAB2_ENST00000425272.2_Splice_Site_p.S142Y	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	224					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.S224Y(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GATACTCACAGAAATATTAGT	0.418																																					p.S224Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671A	1						.						90.0	90.0	90.0					1																	146634020		2203	4300	6503	145100644	SO:0001630	splice_region_variant	5565	exon6			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.672+1C>A	1.37:g.146634020G>T		Somatic		Capture	Illumina HiSeq	Phase_I	145100644	NM_005399	A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035384	0.93630	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.74	5.74	0.90152	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.099952	0.64402	D	0.000002	T	0.82015	0.4945	M	0.90483	3.12	0.80722	D	1	D;P	0.55172	0.97;0.935	P;P	0.62649	0.905;0.733	D	0.84984	0.0890	9	0.72032	D	0.01	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	142;224	B4DH06;O43741	.;AAKB2_HUMAN	Y	224;142	.	ENSP00000254101:S224Y	S	-	2	0	PRKAB2	145100644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	TCT		0.418	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399	Missense_Mutation
BCL9	607	broad.mit.edu	37	1	147090654	147090654	+	Silent	SNP	G	G	A	rs376720843		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:147090654G>A	ENST00000234739.3	+	8	1433	c.693G>A	c.(691-693)ccG>ccA	p.P231P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	231	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P231P(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGAATGATCCGAAACCTCTCC	0.473			T	"""IGH@, IGL@"""	B-ALL																																p.P231P			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693A	1						.	G		0,4406		0,0,2203	120.0	136.0	131.0		693	-5.5	0.9	1		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCL9	NM_004326.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		231/1427	147090654	1,13005	2203	4300	6503	145557278	SO:0001819	synonymous_variant	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.693G>A	1.37:g.147090654G>A		Somatic		Capture	Illumina HiSeq	Phase_I	145557278	NM_004326	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																				0.473	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
BCL9	607	broad.mit.edu	37	1	147091131	147091131	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:147091131G>T	ENST00000234739.3	+	8	1910	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	390	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.Q390H(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GACCGCAGCAGAATCCTGGGG	0.537			T	"""IGH@, IGL@"""	B-ALL																																p.Q390H			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1170T	1						.						62.0	76.0	71.0					1																	147091131		2201	4300	6501	145557755	SO:0001583	missense	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1170G>T	1.37:g.147091131G>T	ENSP00000234739:p.Gln390His	Somatic		Capture	Illumina HiSeq	Phase_I	145557755	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	6.822	0.520723	0.13005	.	.	ENSG00000116128	ENST00000234739	T	0.79141	-1.24	5.16	4.24	0.50183	.	0.170324	0.50627	D	0.000119	T	0.40423	0.1116	N	0.08118	0	0.38787	D	0.954908	B;B	0.31519	0.327;0.327	B;B	0.24541	0.054;0.054	T	0.50800	-0.8785	10	0.48119	T	0.1	-7.7673	8.4016	0.32590	0.1569:0.0:0.8431:0.0	.	390;390	Q1JQ81;O00512	.;BCL9_HUMAN	H	390	ENSP00000234739:Q390H	ENSP00000234739:Q390H	Q	+	3	2	BCL9	145557755	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	0.769000	0.26604	2.857000	0.98124	0.650000	0.86243	CAG		0.537	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
BCL9	607	broad.mit.edu	37	1	147091243	147091243	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:147091243G>T	ENST00000234739.3	+	8	2022	c.1282G>T	c.(1282-1284)Gct>Tct	p.A428S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	428	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.A428S(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGACGTGGGAGCTCCATTTGG	0.532			T	"""IGH@, IGL@"""	B-ALL																																p.A428S			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282T	1						.						55.0	62.0	60.0					1																	147091243		2203	4300	6503	145557867	SO:0001583	missense	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1282G>T	1.37:g.147091243G>T	ENSP00000234739:p.Ala428Ser	Somatic		Capture	Illumina HiSeq	Phase_I	145557867	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	2.070	-0.413179	0.04799	.	.	ENSG00000116128	ENST00000234739	T	0.77489	-1.1	5.61	4.69	0.59074	.	0.159876	0.56097	D	0.000024	T	0.36908	0.0984	N	0.22421	0.69	0.28489	N	0.914584	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.12760	-1.0535	10	0.10111	T	0.7	-4.1161	6.0491	0.19775	0.0704:0.1372:0.6496:0.1427	.	428;428	Q1JQ81;O00512	.;BCL9_HUMAN	S	428	ENSP00000234739:A428S	ENSP00000234739:A428S	A	+	1	0	BCL9	145557867	1.000000	0.71417	0.988000	0.46212	0.928000	0.56348	3.016000	0.49607	1.609000	0.50190	0.650000	0.86243	GCT		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
NBPF15	284565	broad.mit.edu	37	1	148591264	148591264	+	Missense_Mutation	SNP	T	T	G	rs199868824	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:148591264T>G	ENST00000369187.3	+	15	1818	c.1329T>G	c.(1327-1329)tgT>tgG	p.C443W	NBPF15_ENST00000464336.2_3'UTR|NBPF15_ENST00000442702.2_Missense_Mutation_p.C443W	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	443	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.C443W(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TGGATAGATGTTATTCAACTC	0.473																																					p.C443W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1329G	1						.						43.0	58.0	53.0					1																	148591264		913	2208	3121	146857888	SO:0001583	missense	284565	exon12			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1329T>G	1.37:g.148591264T>G	ENSP00000358188:p.Cys443Trp	Somatic		Capture	Illumina HiSeq	Phase_I	146857888	NM_001102663	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	1.449	-0.565640	0.03910	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.09163	3.01;3.01	0.514	-0.83	0.10792	DUF1220 (2);	.	.	.	.	T	0.03011	0.0089	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42447	-0.9451	8	0.33141	T	0.24	.	.	.	.	.	443	Q8N660	NBPFF_HUMAN	W	443	ENSP00000416864:C443W;ENSP00000358188:C443W	ENSP00000358188:C443W	C	+	3	2	NBPF15	146857888	0.000000	0.05858	0.004000	0.12327	0.062000	0.15995	-2.641000	0.00864	-0.330000	0.08514	0.128000	0.15822	TGT		0.473	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638	
SV2A	9900	broad.mit.edu	37	1	149879720	149879720	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:149879720C>T	ENST00000369146.3	-	9	1908	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	SV2A_ENST00000369145.1_Missense_Mutation_p.R473H	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	473					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.R473H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTGGAGATGGCGGATCATGTC	0.512																																					p.R473H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1418A	1						.						148.0	141.0	143.0					1																	149879720		2203	4300	6503	148146344	SO:0001583	missense	9900	exon9			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1418G>A	1.37:g.149879720C>T	ENSP00000358142:p.Arg473His	Somatic		Capture	Illumina HiSeq	Phase_I	148146344	NM_014849	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109797	0.94292	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.74315	-0.83;-0.83	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.142077	0.47455	D	0.000236	T	0.73885	0.3644	L	0.59436	1.845	0.43924	D	0.996571	D	0.58970	0.984	P	0.57425	0.82	T	0.77159	-0.2690	10	0.66056	D	0.02	-12.5651	9.722	0.40308	0.0:0.9087:0.0:0.0913	.	473	Q7L0J3	SV2A_HUMAN	H	473	ENSP00000358142:R473H;ENSP00000358141:R473H	ENSP00000358141:R473H	R	-	2	0	SV2A	148146344	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.995000	0.40767	2.741000	0.93983	0.555000	0.69702	CGC		0.512	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		
MTMR11	10903	broad.mit.edu	37	1	149905806	149905806	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:149905806C>T	ENST00000439741.2	-	8	963	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	238	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCCAGAATTCGGTTAGGGAC	0.483																																					p.R166Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.G497A	1						.						144.0	132.0	136.0					1																	149905806		2203	4300	6503	148172430	SO:0001583	missense	10903	exon7			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.713G>A	1.37:g.149905806C>T	ENSP00000391668:p.Arg238Gln	Somatic		Capture	Illumina HiSeq	Phase_I	148172430	NM_181873	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344373	0.61073	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.92495	-3.05;-2.58;-3.05	5.29	4.38	0.52667	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.165377	0.39475	N	0.001344	D	0.88890	0.6560	N	0.24115	0.695	0.41734	D	0.989573	B;B;D;D	0.76494	0.068;0.116;0.998;0.999	B;B;D;D	0.75484	0.012;0.012;0.963;0.986	D	0.89949	0.4078	10	0.56958	D	0.05	.	7.7547	0.28917	0.0:0.818:0.0:0.182	.	80;210;166;238	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	Q	166;238;210;80	ENSP00000358136:R166Q;ENSP00000391668:R238Q;ENSP00000383948:R210Q	ENSP00000358136:R166Q	R	-	2	0	MTMR11	148172430	0.935000	0.31712	0.830000	0.32933	0.924000	0.55760	1.221000	0.32503	1.472000	0.48140	0.655000	0.94253	CGA		0.483	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
OTUD7B	56957	broad.mit.edu	37	1	149943156	149943156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:149943156C>T	ENST00000369135.4	-	3	403	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	37					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A37T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCACTGAGGGCGGCATTCACA	0.468																																					p.A37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	1						.						110.0	109.0	109.0					1																	149943156		1953	4150	6103	148209780	SO:0001583	missense	56957	exon3			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.109G>A	1.37:g.149943156C>T	ENSP00000358131:p.Ala37Thr	Somatic		Capture	Illumina HiSeq	Phase_I	148209780	NM_020205	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790961	0.90367	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.54279	0.58;0.89	5.19	5.19	0.71726	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63642	-0.6591	9	.	.	.	-19.88	17.4534	0.87599	0.0:1.0:0.0:0.0	.	37	Q6GQQ9	OTU7B_HUMAN	T	37	ENSP00000358131:A37T;ENSP00000408231:A37T	.	A	-	1	0	OTUD7B	148209780	1.000000	0.71417	0.964000	0.40570	0.608000	0.37181	7.236000	0.78154	2.696000	0.92011	0.650000	0.86243	GCC		0.468	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205	
PLEKHO1	51177	broad.mit.edu	37	1	150123206	150123206	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:150123206T>C	ENST00000369124.4	+	2	413	c.135T>C	c.(133-135)taT>taC	p.Y45Y	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.Y45Y	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	45	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y45Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACCGCTATGTGGTGCTGA	0.552																																					p.Y45Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T135C	1						.						129.0	135.0	133.0					1																	150123206		2203	4300	6503	148389830	SO:0001819	synonymous_variant	51177	exon2			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.135T>C	1.37:g.150123206T>C		Somatic		Capture	Illumina HiSeq	Phase_I	148389830	NM_016274	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	CCDS945.1																																																																																				0.552	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
CA14	23632	broad.mit.edu	37	1	150234004	150234004	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:150234004G>A	ENST00000369111.4	+	3	1193	c.223G>A	c.(223-225)Gag>Aag	p.E75K	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	75					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.E75K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	GCCTGGCACCGAGCCTTTGGA	0.522																																					p.E75K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	1						.						93.0	73.0	80.0					1																	150234004		2203	4300	6503	148500628	SO:0001583	missense	23632	exon3			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.223G>A	1.37:g.150234004G>A	ENSP00000358107:p.Glu75Lys	Somatic		Capture	Illumina HiSeq	Phase_I	148500628	NM_012113	Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908498	0.33721	.	.	ENSG00000118298	ENST00000369111	T	0.67171	-0.25	5.71	3.6	0.41247	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.426873	0.27518	N	0.019009	T	0.15696	0.0378	N	0.13235	0.315	0.22479	N	0.999069	P	0.38800	0.648	B	0.28305	0.088	T	0.18808	-1.0325	10	0.10636	T	0.68	.	5.0876	0.14691	0.2134:0.1627:0.6239:0.0	.	75	Q9ULX7	CAH14_HUMAN	K	75	ENSP00000358107:E75K	ENSP00000358107:E75K	E	+	1	0	CA14	148500628	0.000000	0.05858	0.682000	0.30024	0.869000	0.49853	-0.083000	0.11286	0.587000	0.29643	0.563000	0.77884	GAG		0.522	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113	
TARS2	80222	broad.mit.edu	37	1	150476813	150476813	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:150476813T>G	ENST00000369064.3	+	14	1654	c.1620T>G	c.(1618-1620)atT>atG	p.I540M	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.I410M|TARS2_ENST00000606933.1_Missense_Mutation_p.I458M	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	540					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.I540M(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCCTGTAGATTGACGTGCACC	0.527																																					p.I540M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1620G	1						.						73.0	55.0	61.0					1																	150476813		2203	4300	6503	148743437	SO:0001583	missense	80222	exon14			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1620T>G	1.37:g.150476813T>G	ENSP00000358060:p.Ile540Met	Somatic		Capture	Illumina HiSeq	Phase_I	148743437	NM_025150	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682166	0.47991	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	-1.3	0.09259	Aminoacyl-tRNA synthetase, class II (1);	0.060568	0.64402	D	0.000005	T	0.74596	0.3737	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.949;0.999;0.999	T	0.77392	-0.2605	9	0.87932	D	0	-11.0806	9.6221	0.39727	0.0:0.3758:0.0:0.6242	.	410;265;540	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	M	410;540;265;265	.	ENSP00000358047:I265M	I	+	3	3	TARS2	148743437	1.000000	0.71417	0.976000	0.42696	0.299000	0.27559	0.595000	0.24029	-0.398000	0.07679	0.533000	0.62120	ATT		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
HORMAD1	84072	broad.mit.edu	37	1	150689695	150689695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:150689695G>A	ENST00000361824.2	-	3	202	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.L33F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.L33F|HORMAD1_ENST00000368995.4_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	33	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.L33F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCTAGAAGCCTCTTCACT	0.348																																					p.L33F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97T	1						.						98.0	98.0	98.0					1																	150689695		2203	4300	6503	148956319	SO:0001583	missense	84072	exon3			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.97C>T	1.37:g.150689695G>A	ENSP00000355167:p.Leu33Phe	Somatic		Capture	Illumina HiSeq	Phase_I	148956319	NM_001199829	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825466	0.90955	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.47528	0.89;0.84;0.88	5.46	5.46	0.80206	DNA-binding HORMA (4);	0.106321	0.64402	D	0.000007	T	0.64560	0.2609	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64198	-0.6464	10	0.42905	T	0.14	-7.4254	17.8768	0.88827	0.0:0.0:1.0:0.0	.	33;33	Q86X24-2;Q86X24	.;HORM1_HUMAN	F	33	ENSP00000357989:L33F;ENSP00000326489:L33F;ENSP00000355167:L33F	ENSP00000326489:L33F	L	-	1	0	HORMAD1	148956319	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.329000	0.59260	2.554000	0.86153	0.460000	0.39030	CTT		0.348	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132	
PI4KB	5298	broad.mit.edu	37	1	151262964	151262964	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:151262964T>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.C1065C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.V1045A(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGAAACATGTCCAGGTCCGG	0.642																																					p.V1045A	Colon(154;765 1838 9854 28443 37492)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3134C	1						.						71.0	77.0	75.0					1																	151262964		2203	4300	6503	149529588	SO:0001628	intergenic_variant	57592	exon8			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262964T>C		Somatic		Capture	Illumina HiSeq	Phase_I	149529588	NM_020832	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	T	25.6	4.650909	0.87958	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614	T;T	0.00966	5.49;5.49	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);	0.000000	0.31145	U	0.008172	T	0.00552	0.0018	L	0.54323	1.7	0.80722	D	1	P	0.46395	0.877	B	0.37480	0.251	T	0.76852	-0.2806	10	0.23891	T	0.37	.	12.8664	0.57941	0.0:0.0:0.0:1.0	.	1045	Q8N1G0	ZN687_HUMAN	A	1045;1045;668;13	ENSP00000336620:V1045A;ENSP00000319829:V1045A	ENSP00000319829:V1045A	V	+	2	0	ZNF687	149529588	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.043000	0.71004	2.129000	0.65627	0.460000	0.39030	GTC		0.642	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
PI4KB	5298	broad.mit.edu	37	1	151288138	151288138	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:151288138G>A	ENST00000368873.1	-	2	988	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	PI4KB_ENST00000368874.4_Missense_Mutation_p.R274C|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274C|PI4KB_ENST00000368875.2_Missense_Mutation_p.R286C|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R286C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTTAGAGCGCTGGTGAGTC	0.547																																					p.R274C	Colon(154;765 1838 9854 28443 37492)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820T	1						.						116.0	107.0	110.0					1																	151288138		2203	4300	6503	149554762	SO:0001583	missense	5298	exon4			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.820C>T	1.37:g.151288138G>A	ENSP00000357867:p.Arg274Cys	Somatic		Capture	Illumina HiSeq	Phase_I	149554762	NM_001198773	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	G	18.48	3.634235	0.67130	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.80464	-0.1371	10	0.87932	D	0	-14.1955	10.9834	0.47508	0.0:0.0:0.7182:0.2818	.	274;274;274	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	C	274;286;286;274;274;274	ENSP00000357868:R274C;ENSP00000357869:R286C;ENSP00000271657:R286C;ENSP00000357867:R274C;ENSP00000357866:R274C;ENSP00000394719:R274C	ENSP00000271657:R286C	R	-	1	0	PI4KB	149554762	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.314000	0.59166	2.654000	0.90174	0.561000	0.74099	CGC		0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
CGN	57530	broad.mit.edu	37	1	151506561	151506561	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:151506561G>T	ENST00000271636.7	+	15	2986	c.2853G>T	c.(2851-2853)gaG>gaT	p.E951D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	945					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E951D(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGAGGCAGAGAACAAGAAGC	0.642																																					p.E951D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2853T	1						.						35.0	28.0	30.0					1																	151506561		2201	4298	6499	149773185	SO:0001583	missense	57530	exon15			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2853G>T	1.37:g.151506561G>T	ENSP00000271636:p.Glu951Asp	Somatic		Capture	Illumina HiSeq	Phase_I	149773185	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694815	0.48202	.	.	ENSG00000143375	ENST00000271636	T	0.78246	-1.16	5.4	0.779	0.18550	Myosin tail (1);	0.102221	0.64402	D	0.000003	T	0.52996	0.1769	L	0.50333	1.59	0.50039	D	0.999847	B	0.19817	0.039	B	0.25140	0.058	T	0.49688	-0.8913	10	0.41790	T	0.15	-22.3116	6.5477	0.22414	0.3177:0.0:0.5595:0.1227	.	945	Q9P2M7	CING_HUMAN	D	951	ENSP00000271636:E951D	ENSP00000271636:E951D	E	+	3	2	CGN	149773185	0.951000	0.32395	1.000000	0.80357	0.993000	0.82548	1.074000	0.30703	0.249000	0.21456	0.563000	0.77884	GAG		0.642	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
TCHHL1	126637	broad.mit.edu	37	1	152057614	152057614	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:152057614G>T	ENST00000368806.1	-	3	2608	c.2544C>A	c.(2542-2544)gtC>gtA	p.V848V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	848							calcium ion binding (GO:0005509)	p.V848V(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTGAAAAAGACAGAACAAT	0.507																																					p.V848V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2544A	1						.						220.0	192.0	202.0					1																	152057614		2203	4300	6503	150324238	SO:0001819	synonymous_variant	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2544C>A	1.37:g.152057614G>T		Somatic		Capture	Illumina HiSeq	Phase_I	150324238	NM_001008536	B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	CCDS30857.1																																																																																				0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHH	7062	broad.mit.edu	37	1	152080328	152080328	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:152080328G>A	ENST00000368804.1	-	2	5364	c.5365C>T	c.(5365-5367)Cgc>Tgc	p.R1789C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1789	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1789C(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCTGCGCAGCTGCTGT	0.612																																					p.R1789C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5365T	1						.						65.0	67.0	66.0					1																	152080328		1918	4133	6051	150346952	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5365C>T	1.37:g.152080328G>A	ENSP00000357794:p.Arg1789Cys	Somatic		Capture	Illumina HiSeq	Phase_I	150346952	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440421	0.25900	.	.	ENSG00000159450	ENST00000368804	T	0.15372	2.43	4.09	3.17	0.36434	.	.	.	.	.	T	0.16300	0.0392	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	P	0.54346	0.749	T	0.03910	-1.0993	9	0.62326	D	0.03	2.526	9.4991	0.39006	0.0:0.0:0.7885:0.2115	.	1789	Q07283	TRHY_HUMAN	C	1789	ENSP00000357794:R1789C	ENSP00000357794:R1789C	R	-	1	0	TCHH	150346952	.	.	0.005000	0.12908	0.475000	0.33008	.	.	0.850000	0.35239	-0.510000	0.04470	CGC		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
FLG	2312	broad.mit.edu	37	1	152281525	152281525	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:152281525G>A	ENST00000368799.1	-	3	5872	c.5837C>T	c.(5836-5838)gCt>gTt	p.A1946V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1946	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1946V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCCAAGCAGATCCAAG	0.562									Ichthyosis																												p.A1946V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5837T	1						.						250.0	237.0	242.0					1																	152281525		2203	4300	6503	150548149	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5837C>T	1.37:g.152281525G>A	ENSP00000357789:p.Ala1946Val	Somatic		Capture	Illumina HiSeq	Phase_I	150548149	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.101	-0.184746	0.06340	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.54	-2.28	0.06826	.	.	.	.	.	T	0.00468	0.0015	L	0.41824	1.3	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.46762	-0.9168	9	0.31617	T	0.26	-4.2776	0.552	0.00664	0.2588:0.1884:0.3614:0.1915	.	1946	P20930	FILA_HUMAN	V	1946	ENSP00000357789:A1946V	ENSP00000357789:A1946V	A	-	2	0	FLG	150548149	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.608000	0.02068	-0.570000	0.06022	-1.754000	0.00674	GCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
KPRP	448834	broad.mit.edu	37	1	152733472	152733472	+	Missense_Mutation	SNP	C	C	A	rs141557248	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:152733472C>A	ENST00000606109.1	+	1	1436	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	KPRP_ENST00000368773.1_Missense_Mutation_p.P470T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	470	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P470T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGAGCACCCAGAGCCTTG	0.672																																					p.P470T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408A	1						.						101.0	104.0	103.0					1																	152733472		2203	4300	6503	151000096	SO:0001583	missense	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1408C>A	1.37:g.152733472C>A	ENSP00000475216:p.Pro470Thr	Somatic		Capture	Illumina HiSeq	Phase_I	151000096	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818873	0.50633	.	.	ENSG00000203786	ENST00000368773	T	0.12465	2.68	4.09	-0.367	0.12541	.	0.997630	0.08109	N	0.996452	T	0.03827	0.0108	L	0.48642	1.525	0.09310	N	1	P	0.38677	0.642	B	0.33620	0.167	T	0.38436	-0.9661	10	0.72032	D	0.01	1.4057	5.2937	0.15741	0.0:0.486:0.3193:0.1947	.	470	Q5T749	KPRP_HUMAN	T	470	ENSP00000357762:P470T	ENSP00000357762:P470T	P	+	1	0	KPRP	151000096	0.267000	0.24122	0.000000	0.03702	0.034000	0.12701	1.243000	0.32767	-0.147000	0.11254	0.462000	0.41574	CCA		0.672	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
SPRR2E	6704	broad.mit.edu	37	1	153066099	153066099	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153066099C>T	ENST00000368751.1	-	2	203	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SPRR2E_ENST00000368750.3_Silent_p.Q43Q|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	43	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)	p.Q43Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGCAGGGCTGTGGACACT	0.617																																					p.Q43Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	1						.						171.0	167.0	168.0					1																	153066099		2203	4300	6503	151332723	SO:0001819	synonymous_variant	6704	exon2			AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.129G>A	1.37:g.153066099C>T		Somatic		Capture	Illumina HiSeq	Phase_I	151332723	NM_001024209	Q5T9T4|Q96RM2	Silent	SNP	ENST00000368751.1	37	CCDS30866.1																																																																																				0.617	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1		
PGLYRP4	57115	broad.mit.edu	37	1	153312870	153312870	+	Missense_Mutation	SNP	C	C	T	rs148847664		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153312870C>T	ENST00000359650.5	-	7	875	c.811G>A	c.(811-813)Gac>Aac	p.D271N	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D267N	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	271					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.D271N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAACCAATGTCGCATGACTTG	0.502																																					p.D271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	1						.						103.0	100.0	101.0					1																	153312870		2203	4300	6503	151579494	SO:0001583	missense	57115	exon7			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.811G>A	1.37:g.153312870C>T	ENSP00000352672:p.Asp271Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151579494	NM_020393	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421465	0.62622	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.26810	1.71;1.71	3.64	3.64	0.41730	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000022	T	0.56247	0.1972	H	0.97783	4.075	0.45194	D	0.998206	D;D	0.89917	1.0;1.0	D;D	0.70716	0.949;0.97	T	0.70684	-0.4804	10	0.72032	D	0.01	-24.7997	10.9823	0.47501	0.0:1.0:0.0:0.0	.	267;271	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	N	267;271	ENSP00000357728:D267N;ENSP00000352672:D271N	ENSP00000352672:D271N	D	-	1	0	PGLYRP4	151579494	0.960000	0.32886	0.249000	0.24280	0.069000	0.16628	2.192000	0.42649	1.988000	0.58038	0.655000	0.94253	GAC		0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
S100A7L2	645922	broad.mit.edu	37	1	153410766	153410766	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153410766C>A	ENST00000368725.2	-	2	72	c.73G>T	c.(73-75)Gtc>Ttc	p.V25F		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	14	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.V14F(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACATCGCGACTATGTCCAAC	0.428																																					p.V25F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73T	1						.						196.0	160.0	172.0					1																	153410766		2203	4300	6503	151677390	SO:0001583	missense	645922	exon2					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.73G>T	1.37:g.153410766C>A	ENSP00000357714:p.Val25Phe	Somatic		Capture	Illumina HiSeq	Phase_I	151677390	NM_001045479		Missense_Mutation	SNP	ENST00000368725.2	37		.	.	.	.	.	.	.	.	.	.	.	11.56	1.675917	0.29783	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.06933	3.24;3.24;3.24	2.01	-0.503	0.12000	EF-hand-like domain (1);	.	.	.	.	T	0.01730	0.0055	N	0.22421	0.69	0.09310	N	1	D	0.56035	0.974	B	0.41619	0.361	T	0.42616	-0.9441	9	0.87932	D	0	.	4.4479	0.11606	0.0:0.3267:0.0:0.6733	.	14	Q5SY68	S1A7B_HUMAN	F	14;14;25	ENSP00000357714:V14F;ENSP00000357713:V14F;ENSP00000405610:V25F	ENSP00000357713:V14F	V	-	1	0	S100A7L2	151677390	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.004000	0.12878	-0.126000	0.11682	-0.357000	0.07601	GTC		0.428	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479	
S100A2	6273	broad.mit.edu	37	1	153533998	153533998	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153533998C>T	ENST00000368708.3	-	3	583	c.211G>A	c.(211-213)Gac>Aac	p.D71N	S100A2_ENST00000368709.1_Missense_Mutation_p.D71N|S100A2_ENST00000497140.1_Missense_Mutation_p.D38N|S100A2_ENST00000487430.2_Missense_Mutation_p.D71N|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368710.1_Missense_Mutation_p.D71N	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.D71N(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	TCCTGGAAGTCCACCTGCTGG	0.517																																					p.D71N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	1						.						238.0	224.0	229.0					1																	153533998		2203	4300	6503	151800622	SO:0001583	missense	6273	exon3			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.211G>A	1.37:g.153533998C>T	ENSP00000357697:p.Asp71Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151800622	NM_005978	O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	CCDS1044.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322415	0.81580	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.18657	2.2;2.2;2.2	5.2	5.2	0.72013	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	.	.	.	0.44492	D	0.997439	D	0.89917	1.0	D	0.85130	0.997	T	0.03148	-1.1067	9	0.39692	T	0.17	.	14.588	0.68342	0.0:1.0:0.0:0.0	.	72	P29034	S10A2_HUMAN	N	71;71;71;112	ENSP00000357697:D71N;ENSP00000357699:D71N;ENSP00000357698:D71N	ENSP00000357696:D112N	D	-	1	0	S100A2	151800622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.975000	0.56859	2.587000	0.87381	0.655000	0.94253	GAC		0.517	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978	
DENND4B	9909	broad.mit.edu	37	1	153913733	153913733	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153913733C>G	ENST00000361217.4	-	8	1573	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	385	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q273H(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGATACAGGCTGACAGAGGA	0.577																																					p.Q385H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1155C	1						.						63.0	72.0	69.0					1																	153913733		2058	4199	6257	152180357	SO:0001583	missense	9909	exon8			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1155G>C	1.37:g.153913733C>G	ENSP00000354597:p.Gln385His	Somatic		Capture	Illumina HiSeq	Phase_I	152180357	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219117	0.58560	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12147	2.71;2.71	4.37	-1.04	0.10068	DENN (3);	0.071321	0.64402	D	0.000020	T	0.24470	0.0593	M	0.87682	2.9	0.51482	D	0.999921	D	0.69078	0.997	D	0.83275	0.996	T	0.09207	-1.0685	10	0.56958	D	0.05	-15.8272	9.4731	0.38856	0.0:0.4855:0.0:0.5145	.	385	O75064	DEN4B_HUMAN	H	385;396	ENSP00000354597:Q385H;ENSP00000357635:Q396H	ENSP00000354597:Q385H	Q	-	3	2	DENND4B	152180357	0.029000	0.19370	0.993000	0.49108	0.910000	0.53928	-0.833000	0.04396	-0.276000	0.09206	-0.379000	0.06801	CAG		0.577	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
DENND4B	9909	broad.mit.edu	37	1	153914562	153914562	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:153914562C>T	ENST00000361217.4	-	6	1256	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	280					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E168K(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGAACGCCTCGTAGAACTGC	0.682																																					p.E280K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	1						.						20.0	24.0	23.0					1																	153914562		2078	4191	6269	152181186	SO:0001583	missense	9909	exon6			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.838G>A	1.37:g.153914562C>T	ENSP00000354597:p.Glu280Lys	Somatic		Capture	Illumina HiSeq	Phase_I	152181186	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987987	0.93106	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11495	2.78;2.77	4.39	4.39	0.52855	.	0.065036	0.64402	D	0.000011	T	0.22437	0.0541	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.01397	-1.1365	10	0.87932	D	0	-19.4694	15.8831	0.79219	0.0:1.0:0.0:0.0	.	280	O75064	DEN4B_HUMAN	K	280;291	ENSP00000354597:E280K;ENSP00000357635:E291K	ENSP00000354597:E280K	E	-	1	0	DENND4B	152181186	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.617000	0.83032	2.292000	0.77174	0.462000	0.41574	GAG		0.682	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
NUP210L	91181	broad.mit.edu	37	1	154002404	154002404	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154002404A>C	ENST00000368559.3	-	28	3894	c.3823T>G	c.(3823-3825)Ttg>Gtg	p.L1275V	NUP210L_ENST00000271854.3_Missense_Mutation_p.L1275V|NUP210L_ENST00000368553.1_Missense_Mutation_p.L208V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1275					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.L1275V(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTTCCAACAAATTCCCCTCA	0.398																																					p.L1275V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3823G	1						.						111.0	98.0	102.0					1																	154002404		1859	4095	5954	152269028	SO:0001583	missense	91181	exon28			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3823T>G	1.37:g.154002404A>C	ENSP00000357547:p.Leu1275Val	Somatic		Capture	Illumina HiSeq	Phase_I	152269028	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	9.590	1.125852	0.20959	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.21734	3.57;1.99;3.31	5.42	-0.863	0.10669	.	1.094010	0.07008	N	0.824625	T	0.02012	0.0063	N	0.04508	-0.205	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45687	-0.9244	10	0.10902	T	0.67	-1.186	5.9202	0.19078	0.2825:0.4143:0.3032:0.0	.	1275;1275	E7EP56;Q5VU65	.;P210L_HUMAN	V	1275;208;1275	ENSP00000357547:L1275V;ENSP00000357541:L208V;ENSP00000271854:L1275V	ENSP00000271854:L1275V	L	-	1	2	NUP210L	152269028	0.005000	0.15991	0.377000	0.26055	0.987000	0.75469	0.029000	0.13666	-0.157000	0.11059	0.491000	0.48974	TTG		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
NUP210L	91181	broad.mit.edu	37	1	154029380	154029380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154029380G>A	ENST00000368559.3	-	23	3222	c.3151C>T	c.(3151-3153)Cga>Tga	p.R1051*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R1051*|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1051					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R1051*(1)|p.R1051R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGGTAGCTCGAAGAATATAA	0.398																																					p.R1051X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.C3151T	1						.						132.0	120.0	124.0					1																	154029380		1852	4103	5955	152296004	SO:0001587	stop_gained	91181	exon23			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3151C>T	1.37:g.154029380G>A	ENSP00000357547:p.Arg1051*	Somatic		Capture	Illumina HiSeq	Phase_I	152296004	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	43	10.005497	0.99315	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.95	4.95	0.65309	.	0.284476	0.25964	N	0.027176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-34.9706	16.1404	0.81517	0.0:0.0:1.0:0.0	.	.	.	.	X	1051	.	ENSP00000271854:R1051X	R	-	1	2	NUP210L	152296004	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.025000	0.57225	2.562000	0.86427	0.650000	0.86243	CGA		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
NUP210L	91181	broad.mit.edu	37	1	154091161	154091161	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154091161G>A	ENST00000368559.3	-	11	1521	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R484C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	484					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R484C(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTTTATAACGATATAACATT	0.328																																					p.R484C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1450T	1						.						147.0	150.0	149.0					1																	154091161		1835	4085	5920	152357785	SO:0001583	missense	91181	exon11			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1450C>T	1.37:g.154091161G>A	ENSP00000357547:p.Arg484Cys	Somatic		Capture	Illumina HiSeq	Phase_I	152357785	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325049	0.60634	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06068	3.35;3.35	5.0	5.0	0.66597	Invasin/intimin cell-adhesion (1);	0.463681	0.20461	N	0.091896	T	0.03871	0.0109	L	0.44542	1.39	0.45150	D	0.998168	D;D	0.61697	0.99;0.99	B;B	0.39660	0.306;0.306	T	0.42599	-0.9442	10	0.72032	D	0.01	-3.2393	16.0759	0.80967	0.0:0.0:1.0:0.0	.	484;484	E7EP56;Q5VU65	.;P210L_HUMAN	C	484	ENSP00000357547:R484C;ENSP00000271854:R484C	ENSP00000271854:R484C	R	-	1	0	NUP210L	152357785	1.000000	0.71417	0.956000	0.39512	0.534000	0.34807	4.858000	0.62947	2.337000	0.79520	0.460000	0.39030	CGT		0.328	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
NUP210L	91181	broad.mit.edu	37	1	154099828	154099828	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154099828C>A	ENST00000368559.3	-	9	1215	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.D382Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	382					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.D382N(1)|p.D382Y(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCAAAGACGTCTACTGTAATG	0.363																																					p.D382Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.G1144T	1						.						106.0	100.0	102.0					1																	154099828		1845	4096	5941	152366452	SO:0001583	missense	91181	exon9			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1144G>T	1.37:g.154099828C>A	ENSP00000357547:p.Asp382Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	152366452	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178170	0.38511	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05855	3.38;3.38	4.61	4.61	0.57282	.	0.392339	0.22021	N	0.065735	T	0.03011	0.0089	N	0.24115	0.695	0.41184	D	0.986257	P;P	0.48503	0.911;0.911	B;B	0.42653	0.394;0.394	T	0.55108	-0.8192	10	0.46703	T	0.11	4.0641	15.3754	0.74602	0.0:1.0:0.0:0.0	.	382;382	E7EP56;Q5VU65	.;P210L_HUMAN	Y	382	ENSP00000357547:D382Y;ENSP00000271854:D382Y	ENSP00000271854:D382Y	D	-	1	0	NUP210L	152366452	0.998000	0.40836	0.415000	0.26534	0.089000	0.18198	5.178000	0.65037	2.388000	0.81334	0.491000	0.48974	GAC		0.363	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
C1orf189	388701	broad.mit.edu	37	1	154173026	154173026	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154173026G>T	ENST00000368525.3	-	3	138	c.113C>A	c.(112-114)gCa>gAa	p.A38E		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	38								p.A38E(1)		kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTGGCCCAATGCCATTTGCCA	0.493																																					p.A38E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C113A	1						.						277.0	254.0	262.0					1																	154173026		2203	4300	6503	152439650	SO:0001583	missense	388701	exon3				CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.113C>A	1.37:g.154173026G>T	ENSP00000357511:p.Ala38Glu	Somatic		Capture	Illumina HiSeq	Phase_I	152439650	NM_001010979	A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729131	0.48833	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.82	4.82	0.62117	.	0.276011	0.41938	D	0.000799	T	0.11623	0.0283	N	0.08118	0	0.09310	N	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.11275	-1.0594	9	0.49607	T	0.09	.	13.2593	0.60097	0.0:0.0:1.0:0.0	.	38	Q5VU69	CA189_HUMAN	E	38	.	ENSP00000357511:A38E	A	-	2	0	C1orf189	152439650	0.976000	0.34144	0.809000	0.32408	0.838000	0.47535	2.763000	0.47605	2.498000	0.84270	0.561000	0.74099	GCA		0.493	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979	
AQP10	89872	broad.mit.edu	37	1	154295766	154295766	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154295766G>T	ENST00000324978.3	+	4	460	c.420G>T	c.(418-420)aaG>aaT	p.K140N	AQP10_ENST00000484864.1_Missense_Mutation_p.K140N|AQP10_ENST00000355197.4_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	140					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.K140N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCCCAAGGAGACAGCCT	0.532																																					p.K140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G420T	1						.						112.0	113.0	112.0					1																	154295766		2203	4300	6503	152562390	SO:0001583	missense	89872	exon4			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.420G>T	1.37:g.154295766G>T	ENSP00000318355:p.Lys140Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152562390	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	1.435	-0.569083	0.03910	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85339	-1.97;-1.97	5.04	1.04	0.20106	Aquaporin-like (2);	0.290799	0.37178	N	0.002203	T	0.31918	0.0812	N	0.01679	-0.765	0.30315	N	0.788116	B;B	0.11235	0.002;0.004	B;B	0.15484	0.004;0.013	T	0.38693	-0.9649	10	0.02654	T	1	.	7.9314	0.29904	0.4964:0.0:0.5036:0.0	.	140;140	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	N	140	ENSP00000318355:K140N;ENSP00000420341:K140N	ENSP00000318355:K140N	K	+	3	2	AQP10	152562390	0.003000	0.15002	0.997000	0.53966	0.985000	0.73830	-0.101000	0.10973	0.327000	0.23409	-0.266000	0.10368	AAG		0.532	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
AQP10	89872	broad.mit.edu	37	1	154296104	154296104	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154296104A>G	ENST00000324978.3	+	5	569	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	AQP10_ENST00000484864.1_Missense_Mutation_p.I177V|AQP10_ENST00000355197.4_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	177					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I177V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTTGGCCATCCTGGACAG	0.622																																					p.I177V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A529G	1						.						141.0	145.0	144.0					1																	154296104		2203	4300	6503	152562728	SO:0001583	missense	89872	exon5			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.529A>G	1.37:g.154296104A>G	ENSP00000318355:p.Ile177Val	Somatic		Capture	Illumina HiSeq	Phase_I	152562728	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199911	0.38905	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.10763	2.84;2.84	4.9	3.75	0.43078	Aquaporin-like (2);	0.209248	0.39834	N	0.001258	T	0.04770	0.0129	L	0.39692	1.235	0.26765	N	0.969928	P;P	0.43607	0.812;0.536	B;B	0.43478	0.421;0.191	T	0.16364	-1.0405	10	0.51188	T	0.08	.	10.8232	0.46617	0.8409:0.1591:0.0:0.0	.	177;177	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	V	177	ENSP00000318355:I177V;ENSP00000420341:I177V	ENSP00000318355:I177V	I	+	1	0	AQP10	152562728	0.512000	0.26186	1.000000	0.80357	0.989000	0.77384	0.744000	0.26245	0.877000	0.35895	0.454000	0.30748	ATC		0.622	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
ATP8B2	57198	broad.mit.edu	37	1	154302889	154302889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154302889C>T	ENST00000368489.3	+	3	148	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R36W|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R17W	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	36					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R50W(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAGGGCGCGGGCTAATGA	0.512																																					p.R17W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49T	1						.						105.0	104.0	104.0					1																	154302889		2203	4300	6503	152569513	SO:0001583	missense	57198	exon3			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.148C>T	1.37:g.154302889C>T	ENSP00000357475:p.Arg50Trp	Somatic		Capture	Illumina HiSeq	Phase_I	152569513	NM_001005855	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395886	0.62177	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	T;T;T	0.74947	-0.02;-0.02;-0.89	4.65	3.71	0.42584	.	1.545020	0.03800	N	0.264308	T	0.50137	0.1598	N	0.25060	0.705	0.54753	D	0.99998	B;B;B	0.17465	0.003;0.022;0.022	B;B;B	0.12156	0.001;0.005;0.007	T	0.09185	-1.0686	10	0.46703	T	0.11	.	12.6772	0.56901	0.1665:0.8335:0.0:0.0	.	36;50;17	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	W	17;50;36	ENSP00000357472:R17W;ENSP00000357475:R50W;ENSP00000340448:R36W	ENSP00000340448:R36W	R	+	1	2	ATP8B2	152569513	0.236000	0.23804	0.996000	0.52242	0.997000	0.91878	0.705000	0.25675	1.122000	0.41944	0.462000	0.41574	CGG		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
ATP8B2	57198	broad.mit.edu	37	1	154310117	154310117	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154310117G>T	ENST00000368487.3	+	12	1318	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	ATP8B2_ENST00000426445.1_Intron|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000341822.2_Intron|ATP8B2_ENST00000368489.3_Intron	NM_001005855.1	NP_001005855.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	420					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E377D(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGTAACGAGAAGTCCTCTT	0.438																																					p.E377D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1131T	1						.						88.0	92.0	91.0					1																	154310117		2203	4300	6503	152576741	SO:0001583	missense	57198	exon12			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368487.3:c.1131G>T	1.37:g.154310117G>T	ENSP00000357472:p.Glu377Asp	Somatic		Capture	Illumina HiSeq	Phase_I	152576741	NM_001005855	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368487.3	37	CCDS41405.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649661	0.29336	.	.	ENSG00000143515	ENST00000368487	T	0.04317	3.65	4.89	0.98	0.19750	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.87932	D	0	.	6.9091	0.24325	0.3763:0.0:0.6237:0.0	.	377	P98198-4	.	D	377	ENSP00000357472:E377D	ENSP00000357472:E377D	E	+	3	2	ATP8B2	152576741	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.474000	0.22148	0.026000	0.15269	-0.251000	0.11542	GAG		0.438	ATP8B2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087903.2	NM_020452	
SHE	126669	broad.mit.edu	37	1	154456738	154456738	+	Missense_Mutation	SNP	C	C	T	rs372181711		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154456738C>T	ENST00000304760.2	-	6	1461	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T	RP11-350G8.9_ENST00000607963.1_RNA	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	459	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.							p.A459T(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAAACACAGCGCTTGTCTGA	0.438																																					p.A459T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1375A	1						.	C	THR/ALA	0,4406		0,0,2203	178.0	133.0	148.0		1375	5.1	1.0	1		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHE	NM_001010846.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	459/496	154456738	1,13005	2203	4300	6503	152723362	SO:0001583	missense	126669	exon6			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1375G>A	1.37:g.154456738C>T	ENSP00000307369:p.Ala459Thr	Somatic		Capture	Illumina HiSeq	Phase_I	152723362	NM_001010846	Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615098	0.66672	0.0	1.16E-4	ENSG00000169291	ENST00000304760	T	0.30182	1.54	5.05	5.05	0.67936	SH2 motif (4);	0.121522	0.53938	D	0.000041	T	0.20373	0.0490	N	0.12527	0.23	0.40488	D	0.980516	D	0.63046	0.992	P	0.53760	0.734	T	0.05022	-1.0911	10	0.46703	T	0.11	-30.3835	17.1509	0.86778	0.0:1.0:0.0:0.0	.	459	Q5VZ18	SHE_HUMAN	T	459	ENSP00000307369:A459T	ENSP00000307369:A459T	A	-	1	0	SHE	152723362	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.388000	0.44398	2.614000	0.88457	0.655000	0.94253	GCT		0.438	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	
UBE2Q1	55585	broad.mit.edu	37	1	154527221	154527221	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154527221T>G	ENST00000292211.4	-	4	657	c.578A>C	c.(577-579)gAg>gCg	p.E193A	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	193					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.E193A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCAGGCATCTCCTCATCTTC	0.522																																					p.E193A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A578C	1						.						69.0	62.0	64.0					1																	154527221		2203	4300	6503	152793845	SO:0001583	missense	55585	exon4			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.578A>C	1.37:g.154527221T>G	ENSP00000292211:p.Glu193Ala	Somatic		Capture	Illumina HiSeq	Phase_I	152793845	NM_017582	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667580	0.67814	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.14	5.14	0.70334	.	0.120680	0.53938	D	0.000044	T	0.30386	0.0763	L	0.39245	1.2	0.49130	D	0.99975	P	0.41420	0.749	B	0.38264	0.269	T	0.35724	-0.9777	9	0.66056	D	0.02	-22.947	11.2838	0.49210	0.0:0.0:0.0:1.0	.	193	Q7Z7E8	UB2Q1_HUMAN	A	193	.	ENSP00000292211:E193A	E	-	2	0	UBE2Q1	152793845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.341000	0.65964	2.152000	0.67230	0.455000	0.32223	GAG		0.522	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582	
PBXIP1	57326	broad.mit.edu	37	1	154923779	154923779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154923779C>T	ENST00000368463.3	-	5	409	c.338G>A	c.(337-339)gGc>gAc	p.G113D	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G84D|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.G113D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G113D(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTCCCAGGCCTGTCACCAC	0.607																																					p.G113D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338A	1						.						80.0	73.0	75.0					1																	154923779		2203	4300	6503	153190403	SO:0001583	missense	57326	exon5			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.338G>A	1.37:g.154923779C>T	ENSP00000357448:p.Gly113Asp	Somatic		Capture	Illumina HiSeq	Phase_I	153190403	NM_020524	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080363	0.36662	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T;T	0.14266	2.52;2.52;2.52	4.29	-1.58	0.08479	.	1.231680	0.06042	N	0.655026	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45056	-0.9287	10	0.21540	T	0.41	-0.4846	8.1593	0.31190	0.0:0.4471:0.0:0.5529	.	113	Q96AQ6	PBIP1_HUMAN	D	84;113;113;113	ENSP00000357450:G84D;ENSP00000357448:G113D;ENSP00000357445:G113D	ENSP00000295523:G113D	G	-	2	0	PBXIP1	153190403	0.000000	0.05858	0.002000	0.10522	0.595000	0.36748	-0.972000	0.03802	-0.195000	0.10382	0.491000	0.48974	GGC		0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
DCST2	127579	broad.mit.edu	37	1	154998866	154998866	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:154998866C>T	ENST00000368424.3	-	10	1581	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	DCST2_ENST00000295536.5_Missense_Mutation_p.G508D	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	508						integral component of membrane (GO:0016021)		p.G508D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGCATAGGCCATACATGAC	0.632																																					p.G508D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523A	1						.						55.0	54.0	54.0					1																	154998866		2203	4300	6503	153265490	SO:0001583	missense	127579	exon10			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1523G>A	1.37:g.154998866C>T	ENSP00000357409:p.Gly508Asp	Somatic		Capture	Illumina HiSeq	Phase_I	153265490	NM_144622	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693995	0.68386	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.30714	1.52;1.52	4.75	3.82	0.43975	Dendritic cell-specific transmembrane protein-like (1);	0.142196	0.44688	N	0.000436	T	0.40932	0.1137	M	0.74881	2.28	0.37179	D	0.903429	D	0.89917	1.0	D	0.85130	0.997	T	0.36040	-0.9764	10	0.33940	T	0.23	-32.3028	11.5321	0.50616	0.1797:0.8203:0.0:0.0	.	508	Q5T1A1	DCST2_HUMAN	D	508	ENSP00000357409:G508D;ENSP00000295536:G508D	ENSP00000295536:G508D	G	-	2	0	DCST2	153265490	0.995000	0.38212	0.994000	0.49952	0.958000	0.62258	5.171000	0.64996	1.197000	0.43143	0.655000	0.94253	GGC		0.632	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	
ADAM15	8751	broad.mit.edu	37	1	155026884	155026884	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:155026884C>A	ENST00000356955.2	+	6	615	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.L182I|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.L172I|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Missense_Mutation_p.L156I|ADAM15_ENST00000271836.6_Missense_Mutation_p.L172I|ADAM15_ENST00000360674.4_Missense_Mutation_p.L172I|ADAM15_ENST00000449910.2_Missense_Mutation_p.L172I|ADAM15_ENST00000368412.3_Missense_Mutation_p.L172I|ADAM15_ENST00000359280.4_Missense_Mutation_p.L172I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	172					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.L172I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AATCCAAGATCTCCACCTGCC	0.607																																					p.L172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514A	1						.						53.0	58.0	56.0					1																	155026884		2203	4300	6503	153293508	SO:0001583	missense	8751	exon6			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.514C>A	1.37:g.155026884C>A	ENSP00000349436:p.Leu172Ile	Somatic		Capture	Illumina HiSeq	Phase_I	153293508	NM_207196	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580681	0.28180	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00966	5.6;5.61;5.62;5.58;5.49;5.62;5.61;5.62	5.09	-0.254	0.12992	.	0.833807	0.10061	N	0.720887	T	0.00384	0.0012	N	0.24115	0.695	0.09310	N	1	B;B;B;B;P;B;B;B;P;B	0.37061	0.021;0.021;0.017;0.073;0.58;0.036;0.036;0.036;0.58;0.044	B;B;B;B;B;B;B;B;P;B	0.45310	0.022;0.022;0.022;0.098;0.373;0.049;0.049;0.034;0.476;0.031	T	0.46512	-0.9186	10	0.56958	D	0.05	.	0.8454	0.01160	0.3207:0.3373:0.1564:0.1856	.	182;189;156;172;172;172;172;172;172;172	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	I	172;172;172;172;172;172;172;182	ENSP00000349436:L172I;ENSP00000403843:L172I;ENSP00000352226:L172I;ENSP00000353892:L172I;ENSP00000357397:L172I;ENSP00000348227:L172I;ENSP00000271836:L172I;ENSP00000432927:L182I	ENSP00000271836:L172I	L	+	1	0	ADAM15	153293508	0.009000	0.17119	0.088000	0.20740	0.620000	0.37586	-0.258000	0.08733	0.306000	0.22856	0.561000	0.74099	CTC		0.607	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	
ASH1L	55870	broad.mit.edu	37	1	155448744	155448744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:155448744C>T	ENST00000368346.3	-	3	4556	c.3917G>A	c.(3916-3918)cGa>cAa	p.R1306Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1306Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1306					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1306Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGATGACTTCGATGAGTGAT	0.403																																					p.R1306Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3917A	1						.						99.0	103.0	102.0					1																	155448744		2203	4300	6503	153715368	SO:0001583	missense	55870	exon3			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3917G>A	1.37:g.155448744C>T	ENSP00000357330:p.Arg1306Gln	Somatic		Capture	Illumina HiSeq	Phase_I	153715368	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038602	0.75617	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.92858	-3.12;-3.12	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000003	D	0.92515	0.7623	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.69479	0.921;0.964	D	0.93585	0.6916	10	0.72032	D	0.01	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1306;1306	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	1306	ENSP00000357330:R1306Q;ENSP00000376204:R1306Q	ENSP00000357330:R1306Q	R	-	2	0	ASH1L	153715368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.882000	0.69714	2.555000	0.86185	0.591000	0.81541	CGA		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155450884	155450884	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:155450884C>T	ENST00000368346.3	-	3	2416	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E593K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	593					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E593K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAAATTTCTTCGATTAGTTCT	0.373																																					p.E593K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1777A	1						.						59.0	62.0	61.0					1																	155450884		2203	4300	6503	153717508	SO:0001583	missense	55870	exon3			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1777G>A	1.37:g.155450884C>T	ENSP00000357330:p.Glu593Lys	Somatic		Capture	Illumina HiSeq	Phase_I	153717508	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.988084	0.74589	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89939	-2.59;-2.59	5.23	4.31	0.51392	.	0.159234	0.44902	D	0.000416	T	0.70868	0.3273	N	0.14661	0.345	0.80722	D	1	P;P	0.50066	0.886;0.931	B;B	0.38755	0.146;0.281	T	0.75838	-0.3176	10	0.39692	T	0.17	.	15.8692	0.79098	0.0:0.8639:0.1361:0.0	.	593;593	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	593	ENSP00000357330:E593K;ENSP00000376204:E593K	ENSP00000357330:E593K	E	-	1	0	ASH1L	153717508	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.551000	0.45820	1.557000	0.49525	0.655000	0.94253	GAA		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
GON4L	54856	broad.mit.edu	37	1	155730282	155730282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:155730282C>A	ENST00000368331.1	-	24	5110	c.5062G>T	c.(5062-5064)Gac>Tac	p.D1688Y	GON4L_ENST00000271883.5_Missense_Mutation_p.D1688Y|GON4L_ENST00000437809.1_Missense_Mutation_p.D1688Y	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1688	PAH 1. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D1688Y(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCAGCAAAGTCTTTCAACAGC	0.473																																					p.D1688Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5062T	1						.						95.0	94.0	94.0					1																	155730282		1881	4109	5990	153996906	SO:0001583	missense	54856	exon24			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5062G>T	1.37:g.155730282C>A	ENSP00000357315:p.Asp1688Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	153996906	NM_001037533	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	29.0	4.964774	0.92791	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.14022	2.54;2.54;2.54	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.964;0.993;0.988	T	0.01574	-1.1321	10	0.87932	D	0	.	18.8345	0.92155	0.0:1.0:0.0:0.0	.	884;1688;1688	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	Y	1688	ENSP00000396117:D1688Y;ENSP00000357315:D1688Y;ENSP00000271883:D1688Y	ENSP00000271883:D1688Y	D	-	1	0	GON4L	153996906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	2.765000	0.95021	0.650000	0.86243	GAC		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
GON4L	54856	broad.mit.edu	37	1	155735542	155735542	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:155735542G>A	ENST00000368331.1	-	21	3770	c.3722C>T	c.(3721-3723)gCc>gTc	p.A1241V	GON4L_ENST00000271883.5_Missense_Mutation_p.A1241V|GON4L_ENST00000361040.5_Missense_Mutation_p.A1241V|GON4L_ENST00000437809.1_Missense_Mutation_p.A1241V|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1241					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A1241V(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCCTGAAAGGCATTTTCCCC	0.502																																					p.A1241V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3722T	1						.						75.0	78.0	77.0					1																	155735542		2203	4298	6501	154002166	SO:0001583	missense	54856	exon21			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3722C>T	1.37:g.155735542G>A	ENSP00000357315:p.Ala1241Val	Somatic		Capture	Illumina HiSeq	Phase_I	154002166	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	12.64	1.997344	0.35226	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.15256	2.67;2.67;2.67;2.44	5.08	4.17	0.49024	.	0.351848	0.27210	N	0.020411	T	0.09379	0.0231	L	0.50333	1.59	0.28495	N	0.914288	P;B;B;P	0.48089	0.905;0.116;0.41;0.545	P;B;B;B	0.45610	0.487;0.043;0.104;0.21	T	0.05131	-1.0904	10	0.59425	D	0.04	.	8.8523	0.35208	0.1707:0.0:0.8293:0.0	.	1241;437;1241;1241	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	V	1241	ENSP00000396117:A1241V;ENSP00000357315:A1241V;ENSP00000271883:A1241V;ENSP00000354322:A1241V	ENSP00000271883:A1241V	A	-	2	0	GON4L	154002166	0.971000	0.33674	0.995000	0.50966	0.302000	0.27658	1.696000	0.37773	1.382000	0.46385	-0.145000	0.13849	GCC		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
PMF1	11243	broad.mit.edu	37	1	156206122	156206122	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156206122G>T	ENST00000368273.4	+	4	428	c.418G>T	c.(418-420)Gca>Tca	p.A140S	PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.A138S|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A138S	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.A138S(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAGTGTTATGGCACCCTACTT	0.637																																					p.A140S	Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418T	1						.						84.0	84.0	84.0					1																	156206122		2203	4300	6503	154472746	SO:0001583	missense	11243	exon4			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.418G>T	1.37:g.156206122G>T	ENSP00000357256:p.Ala140Ser	Somatic		Capture	Illumina HiSeq	Phase_I	154472746	NM_001199654		Missense_Mutation	SNP	ENST00000368273.4	37	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757994	0.49468	.	.	ENSG00000160783	ENST00000368273;ENST00000368277	T;T	0.28895	1.59;1.59	5.81	3.53	0.40419	.	.	.	.	.	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	P	0.36354	0.549	B	0.40199	0.322	T	0.04467	-1.0949	9	0.59425	D	0.04	.	10.9117	0.47112	0.083:0.1649:0.7522:0.0	.	138	Q6P1K2	PMF1_HUMAN	S	140;138	ENSP00000357256:A140S;ENSP00000357260:A138S	ENSP00000357256:A140S	A	+	1	0	PMF1	154472746	0.987000	0.35691	0.854000	0.33618	0.560000	0.35617	1.107000	0.31110	1.365000	0.46057	0.650000	0.86243	GCA		0.637	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	
SMG5	23381	broad.mit.edu	37	1	156221249	156221249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156221249C>A	ENST00000361813.5	-	20	2917	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	925	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.E925*(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTCCCACCTCTTTCTGGCAG	0.552																																					p.E925X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2773T	1						.						183.0	177.0	179.0					1																	156221249		2203	4300	6503	154487873	SO:0001587	stop_gained	23381	exon20			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2773G>T	1.37:g.156221249C>A	ENSP00000355261:p.Glu925*	Somatic		Capture	Illumina HiSeq	Phase_I	154487873	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Nonsense_Mutation	SNP	ENST00000361813.5	37	CCDS1137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.496637|9.496637	0.99187|0.99187	.|.	.|.	ENSG00000198952|ENSG00000198952	ENST00000361813|ENST00000420555	.|.	.|.	.|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65101	.|0.2659	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63712	.|-0.6575	.|4	0.30854|.	T|.	0.27|.	-6.5125|-6.5125	16.4652|16.4652	0.84077|0.84077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	925|46	.|.	ENSP00000355261:E925X|.	E|R	-|-	1|2	0|0	SMG5|SMG5	154487873|154487873	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.951000|0.951000	0.60555|0.60555	6.838000|6.838000	0.75359|0.75359	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.552	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
C1orf61	10485	broad.mit.edu	37	1	156376948	156376948	+	Missense_Mutation	SNP	A	A	C	rs137930827		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156376948A>C	ENST00000368243.1	-	6	463	c.347T>G	c.(346-348)tTc>tGc	p.F116C	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	116						nucleus (GO:0005634)		p.F116C(1)		large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					agacatggagaaggacttccc	0.473																																					p.F116C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T347G	1						.						71.0	62.0	65.0					1																	156376948		2203	4300	6503	154643572	SO:0001583	missense	10485	exon6				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.347T>G	1.37:g.156376948A>C	ENSP00000357226:p.Phe116Cys	Somatic		Capture	Illumina HiSeq	Phase_I	154643572	NM_006365	B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	CCDS1142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.055876|3.055876	0.55325|0.55325	.|.	.|.	ENSG00000125462|ENSG00000125462	ENST00000368243;ENST00000357975|ENST00000368242	.|.	.|.	.|.	4.29|4.29	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.07908|0.07908	0.0198|0.0198	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.63192|.	0.912|.	T|T	0.32241|0.32241	-0.9914|-0.9914	8|5	0.87932|.	D|.	0|.	-3.9541|-3.9541	6.6804|6.6804	0.23117|0.23117	0.8909:0.0:0.1091:0.0|0.8909:0.0:0.1091:0.0	.|.	116|.	Q13536|.	CROC4_HUMAN|.	C|A	116;129|148	.|.	ENSP00000350661:F129C|.	F|S	-|-	2|1	0|0	C1orf61|C1orf61	154643572|154643572	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.496000|0.496000	0.33645|0.33645	0.381000|0.381000	0.20619|0.20619	0.784000|0.784000	0.33661|0.33661	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.473	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365	
IQGAP3	128239	broad.mit.edu	37	1	156497825	156497825	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156497825C>T	ENST00000361170.2	-	37	4711	c.4701G>A	c.(4699-4701)acG>acA	p.T1567T	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1567					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.T1567T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCTCCCGGCGTGATGTCAA	0.507																																					p.T1567T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4701A	1						.						148.0	131.0	137.0					1																	156497825		2203	4300	6503	154764449	SO:0001819	synonymous_variant	128239	exon37			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4701G>A	1.37:g.156497825C>T		Somatic		Capture	Illumina HiSeq	Phase_I	154764449	NM_178229	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
IQGAP3	128239	broad.mit.edu	37	1	156507067	156507067	+	Missense_Mutation	SNP	C	C	T	rs143078859	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156507067C>T	ENST00000361170.2	-	27	3338	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1110	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.E1110K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGGACCTCGGGGTGGCTC	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19279	0.0		0.0	False		,,,				2504	0.0				p.E1110K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3328A	1						.	C	LYS/GLU	8,4398	14.3+/-33.2	0,8,2195	119.0	98.0	105.0		3328	4.9	1.0	1	dbSNP_134	105	0,8600		0,0,4300	yes	missense	IQGAP3	NM_178229.4	56	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	1110/1632	156507067	8,12998	2203	4300	6503	154773691	SO:0001583	missense	128239	exon27			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3328G>A	1.37:g.156507067C>T	ENSP00000354451:p.Glu1110Lys	Somatic		Capture	Illumina HiSeq	Phase_I	154773691	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.561557	0.96527	0.001816	0.0	ENSG00000183856	ENST00000361170	T	0.78924	-1.22	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87793	0.2620	10	0.87932	D	0	-30.1934	16.8796	0.86060	0.0:1.0:0.0:0.0	.	1110	Q86VI3	IQGA3_HUMAN	K	1110	ENSP00000354451:E1110K	ENSP00000354451:E1110K	E	-	1	0	IQGAP3	154773691	1.000000	0.71417	0.979000	0.43373	0.937000	0.57800	7.510000	0.81708	2.566000	0.86566	0.561000	0.74099	GAG		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
NES	10763	broad.mit.edu	37	1	156639392	156639392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156639392C>T	ENST00000368223.3	-	4	4720	c.4588G>A	c.(4588-4590)Gca>Aca	p.A1530T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1530	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.A1530T(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGATGTCTGCCCCTGGGCCT	0.572																																					p.A1530T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4588A	1						.						86.0	74.0	78.0					1																	156639392		2203	4300	6503	154906016	SO:0001583	missense	10763	exon4			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4588G>A	1.37:g.156639392C>T	ENSP00000357206:p.Ala1530Thr	Somatic		Capture	Illumina HiSeq	Phase_I	154906016	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828653	0.16749	.	.	ENSG00000132688	ENST00000368223	D	0.86694	-2.16	4.15	-8.14	0.01069	.	.	.	.	.	T	0.61476	0.2350	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.54070	-0.8348	9	0.87932	D	0	.	3.3245	0.07062	0.1132:0.1966:0.4473:0.243	.	1530	P48681	NEST_HUMAN	T	1530	ENSP00000357206:A1530T	ENSP00000357206:A1530T	A	-	1	0	NES	154906016	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.276000	0.08514	-1.538000	0.01734	0.313000	0.20887	GCA		0.572	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
NES	10763	broad.mit.edu	37	1	156641488	156641488	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156641488G>T	ENST00000368223.3	-	4	2624	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	831	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.S831Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGTCCCGCAGACTTCAGTGA	0.418																																					p.S831Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2492A	1						.						119.0	113.0	115.0					1																	156641488		2203	4300	6503	154908112	SO:0001583	missense	10763	exon4			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2492C>A	1.37:g.156641488G>T	ENSP00000357206:p.Ser831Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	154908112	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233428	0.58886	.	.	ENSG00000132688	ENST00000368223	D	0.87103	-2.21	4.55	0.526	0.17078	.	0.942641	0.08633	N	0.916732	T	0.68044	0.2958	L	0.46157	1.445	0.09310	N	1	P	0.41947	0.766	B	0.37047	0.24	T	0.60845	-0.7182	10	0.87932	D	0	.	5.3294	0.15924	0.2604:0.1489:0.5907:0.0	.	831	P48681	NEST_HUMAN	Y	831	ENSP00000357206:S831Y	ENSP00000357206:S831Y	S	-	2	0	NES	154908112	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	0.169000	0.16641	0.019000	0.15079	-0.300000	0.09419	TCT		0.418	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
NTRK1	4914	broad.mit.edu	37	1	156845888	156845888	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156845888G>A	ENST00000524377.1	+	13	1559	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	NTRK1_ENST00000392302.2_Silent_p.K470K|NTRK1_ENST00000368196.3_Silent_p.K500K|NTRK1_ENST00000358660.3_Silent_p.K503K	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	506					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K506K(1)|p.K470K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACCACATCAAGCGCCGGGACA	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.K500K			Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1500A	1						.						78.0	79.0	79.0					1																	156845888		2203	4300	6503	155112512	SO:0001819	synonymous_variant	4914	exon12			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1518G>A	1.37:g.156845888G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155112512	NM_001012331	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
ARHGEF11	9826	broad.mit.edu	37	1	156906687	156906687	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156906687G>T	ENST00000361409.2	-	39	5173	c.4431C>A	c.(4429-4431)ggC>ggA	p.G1477G	MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Silent_p.G1517G|ARHGEF11_ENST00000315174.8_Silent_p.G893G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1477					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1517G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGAGAGGGAGCCATCTGTCC	0.607																																					p.G1477G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4431A	1						.						120.0	119.0	119.0					1																	156906687		2203	4300	6503	155173311	SO:0001819	synonymous_variant	9826	exon39			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4431C>A	1.37:g.156906687G>T		Somatic		Capture	Illumina HiSeq	Phase_I	155173311	NM_014784	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.607	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
FCRL5	83416	broad.mit.edu	37	1	157490932	157490932	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:157490932G>A	ENST00000361835.3	-	11	2547	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S797L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S797L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGGGGACGACCTATTTCC	0.592																																					p.S797L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2390T	1						.						74.0	80.0	78.0					1																	157490932		2203	4300	6503	155757556	SO:0001583	missense	83416	exon11			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2390C>T	1.37:g.157490932G>A	ENSP00000354691:p.Ser797Leu	Somatic		Capture	Illumina HiSeq	Phase_I	155757556	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294320	0.23564	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.03242	4.0;4.0	5.34	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	15.336100	0.00496	N	0.000152	T	0.01254	0.0041	L	0.59436	1.845	0.09310	N	1	B;P	0.35807	0.334;0.522	B;B	0.24848	0.037;0.056	T	0.50709	-0.8796	10	0.11794	T	0.64	.	6.7778	0.23628	0.1158:0.1713:0.7129:0.0	.	797;797	A6NJE8;Q96RD9	.;FCRL5_HUMAN	L	797	ENSP00000354691:S797L;ENSP00000349434:S797L	ENSP00000349434:S797L	S	-	2	0	FCRL5	155757556	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.199000	0.17237	0.834000	0.34852	0.650000	0.86243	TCG		0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
FCRL3	115352	broad.mit.edu	37	1	157666943	157666943	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:157666943C>A	ENST00000368184.3	-	6	1122	c.831G>T	c.(829-831)caG>caT	p.Q277H	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.Q277H	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q277H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTACACGTATCTGAGATCTCA	0.532																																					p.Q277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G831T	1						.						93.0	79.0	83.0					1																	157666943		2203	4300	6503	155933567	SO:0001583	missense	115352	exon6			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.831G>T	1.37:g.157666943C>A	ENSP00000357167:p.Gln277His	Somatic		Capture	Illumina HiSeq	Phase_I	155933567	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610495	0.28712	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11821	2.74;2.74	5.85	-0.835	0.10775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.937800	0.00682	N	0.000694	T	0.04092	0.0114	L	0.43701	1.375	0.09310	N	1	B;B	0.33637	0.42;0.201	B;B	0.39027	0.221;0.288	T	0.30238	-0.9985	10	0.15499	T	0.54	.	4.5638	0.12173	0.3304:0.2421:0.3588:0.0687	.	277;277	Q96P31;Q96P31-6	FCRL3_HUMAN;.	H	277	ENSP00000357169:Q277H;ENSP00000357167:Q277H	ENSP00000292392:Q277H	Q	-	3	2	FCRL3	155933567	0.007000	0.16637	0.000000	0.03702	0.026000	0.11368	-0.098000	0.11024	-0.419000	0.07439	0.491000	0.48974	CAG		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
CD5L	922	broad.mit.edu	37	1	157803205	157803205	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:157803205G>A	ENST00000368174.4	-	5	912	c.816C>T	c.(814-816)aaC>aaT	p.N272N	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	272	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.N272N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCTCCCCAGTTGTCATCAC	0.567																																					p.N272N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	1						.						137.0	139.0	138.0					1																	157803205		2203	4300	6503	156069829	SO:0001819	synonymous_variant	922	exon5			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.816C>T	1.37:g.157803205G>A		Somatic		Capture	Illumina HiSeq	Phase_I	156069829	NM_005894	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																				0.567	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD5L	922	broad.mit.edu	37	1	157805646	157805646	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:157805646C>A	ENST00000368174.4	-	3	451	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	119	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.D119Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCCCAGCATCTTCATCATGT	0.502																																					p.D119Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355T	1						.						138.0	138.0	138.0					1																	157805646		2203	4300	6503	156072270	SO:0001583	missense	922	exon3			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.355G>T	1.37:g.157805646C>A	ENSP00000357156:p.Asp119Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156072270	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092249	0.36952	.	.	ENSG00000073754	ENST00000368174	T	0.38722	1.12	4.68	1.73	0.24493	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.840689	0.10120	N	0.713547	T	0.47078	0.1426	H	0.95402	3.665	0.31602	N	0.65255	P	0.44090	0.826	P	0.49528	0.614	T	0.47355	-0.9124	10	0.87932	D	0	.	4.591	0.12306	0.1573:0.6044:0.1521:0.0862	.	119	O43866	CD5L_HUMAN	Y	119	ENSP00000357156:D119Y	ENSP00000357156:D119Y	D	-	1	0	CD5L	156072270	0.994000	0.37717	0.002000	0.10522	0.002000	0.02628	4.107000	0.57811	0.192000	0.20272	-0.302000	0.09304	GAT		0.502	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
KIRREL	55243	broad.mit.edu	37	1	158057572	158057572	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158057572A>G	ENST00000359209.6	+	6	756	c.689A>G	c.(688-690)gAg>gGg	p.E230G	KIRREL_ENST00000392272.2_Missense_Mutation_p.E127G|KIRREL_ENST00000416935.2_Missense_Mutation_p.E130G|KIRREL_ENST00000368172.1_Missense_Mutation_p.E28G|KIRREL_ENST00000368173.3_Missense_Mutation_p.E230G|KIRREL_ENST00000360089.4_Missense_Mutation_p.E66G			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	230	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.E66G(1)|p.E230G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTGTCCATTGAGCCACAGACG	0.562											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E230G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A689G	1						.						79.0	62.0	68.0					1																	158057572		2203	4300	6503	156324196	SO:0001583	missense	55243	exon6			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.689A>G	1.37:g.158057572A>G	ENSP00000352138:p.Glu230Gly	Somatic	1790	Capture	Illumina HiSeq	Phase_I	156324196	NM_018240	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	33	5.241058	0.95272	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165528	0.28448	N	0.015318	T	0.20536	0.0494	M	0.81802	2.56	0.58432	D	0.999993	B;P;P;P	0.39809	0.29;0.689;0.505;0.505	P;P;B;B	0.48921	0.489;0.595;0.438;0.438	T	0.00726	-1.1592	10	0.66056	D	0.02	-35.5594	13.7701	0.63019	1.0:0.0:0.0:0.0	.	130;66;28;230	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	G	66;230;127;230;130;28	ENSP00000353202:E66G;ENSP00000357155:E230G;ENSP00000376098:E127G;ENSP00000352138:E230G;ENSP00000389674:E130G;ENSP00000357154:E28G	ENSP00000352138:E230G	E	+	2	0	KIRREL	156324196	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.773000	0.91762	2.136000	0.66102	0.460000	0.39030	GAG		0.562	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	
KIRREL	55243	broad.mit.edu	37	1	158057859	158057859	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158057859T>G	ENST00000359209.6	+	7	898	c.831T>G	c.(829-831)gaT>gaG	p.D277E	KIRREL_ENST00000392272.2_Missense_Mutation_p.D174E|KIRREL_ENST00000416935.2_Missense_Mutation_p.D177E|KIRREL_ENST00000368172.1_Missense_Mutation_p.D75E|KIRREL_ENST00000368173.3_Missense_Mutation_p.D277E|KIRREL_ENST00000360089.4_Missense_Mutation_p.D113E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	277	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.D113E(1)|p.D277E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAAATGTGGATTATTCCTTTT	0.507											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D277E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T831G	1						.						122.0	129.0	127.0					1																	158057859		2203	4300	6503	156324483	SO:0001583	missense	55243	exon7			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.831T>G	1.37:g.158057859T>G	ENSP00000352138:p.Asp277Glu	Somatic	1790	Capture	Illumina HiSeq	Phase_I	156324483	NM_018240	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399672	0.83120	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.44	-2.61	0.06171	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000432	T	0.22003	0.0530	M	0.89163	3.01	0.49687	D	0.99981	D;D;D;D	0.89917	0.998;0.999;1.0;0.998	D;D;D;D	0.87578	0.988;0.983;0.998;0.966	T	0.19712	-1.0297	10	0.72032	D	0.01	-25.3372	11.2192	0.48844	0.0:0.5009:0.0:0.4991	.	177;113;75;277	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	E	113;277;174;277;177;75	ENSP00000353202:D113E;ENSP00000357155:D277E;ENSP00000376098:D174E;ENSP00000352138:D277E;ENSP00000389674:D177E;ENSP00000357154:D75E	ENSP00000352138:D277E	D	+	3	2	KIRREL	156324483	0.041000	0.20044	0.820000	0.32676	0.997000	0.91878	-0.716000	0.04991	-0.494000	0.06669	0.455000	0.32223	GAT		0.507	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	
CD1D	912	broad.mit.edu	37	1	158152837	158152837	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158152837G>T	ENST00000368171.3	+	5	1276	c.777G>T	c.(775-777)gaG>gaT	p.E259D		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	259	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.E259D(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ATGCTGACGAGACATGGTATC	0.607																																					p.E259D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G777T	1						.						133.0	116.0	122.0					1																	158152837		2203	4300	6503	156419461	SO:0001583	missense	912	exon5			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.777G>T	1.37:g.158152837G>T	ENSP00000357153:p.Glu259Asp	Somatic		Capture	Illumina HiSeq	Phase_I	156419461	NM_001766	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412056	0.25465	.	.	ENSG00000158473	ENST00000368171	T	0.02890	4.12	5.18	0.371	0.16168	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	1.428430	0.04293	N	0.345867	T	0.01320	0.0043	L	0.52206	1.635	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47169	-0.9138	10	0.49607	T	0.09	-0.2119	8.6491	0.34025	0.0932:0.541:0.3658:0.0	.	259	P15813	CD1D_HUMAN	D	259	ENSP00000357153:E259D	ENSP00000357153:E259D	E	+	3	2	CD1D	156419461	0.011000	0.17503	0.032000	0.17829	0.532000	0.34746	-0.189000	0.09629	0.247000	0.21414	0.655000	0.94253	GAG		0.607	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	
OR6Y1	391112	broad.mit.edu	37	1	158517258	158517258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158517258G>A	ENST00000302617.3	-	1	637	c.638C>T	c.(637-639)gCt>gTt	p.A213V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A213V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGAATAGCAATGACCAT	0.512																																					p.A213V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638T	1						.						106.0	99.0	101.0					1																	158517258		2203	4300	6503	156783882	SO:0001583	missense	391112	exon1			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.638C>T	1.37:g.158517258G>A	ENSP00000304807:p.Ala213Val	Somatic		Capture	Illumina HiSeq	Phase_I	156783882	NM_001005189	Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235815	0.22626	.	.	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000800	T	0.04634	0.0126	N	0.00686	-1.255	0.09310	N	1	P	0.45957	0.869	P	0.48425	0.577	T	0.03829	-1.1000	10	0.16896	T	0.51	.	4.5454	0.12078	0.24:0.0:0.6036:0.1564	.	213	Q8NGX8	OR6Y1_HUMAN	V	213	ENSP00000304807:A213V	ENSP00000304807:A213V	A	-	2	0	OR6Y1	156783882	0.001000	0.12720	0.944000	0.38274	0.368000	0.29767	1.355000	0.34068	1.474000	0.48178	0.655000	0.94253	GCT		0.512	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189	
SPTA1	6708	broad.mit.edu	37	1	158584058	158584058	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158584058A>C	ENST00000368147.4	-	49	7007	c.6827T>G	c.(6826-6828)tTt>tGt	p.F2276C	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2276	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.F2276C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATTGTGCTAAATTCCTTTAG	0.323																																					p.F2276C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6827G	1						.						81.0	79.0	80.0					1																	158584058		1811	4068	5879	156850682	SO:0001583	missense	6708	exon49			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6827T>G	1.37:g.158584058A>C	ENSP00000357129:p.Phe2276Cys	Somatic		Capture	Illumina HiSeq	Phase_I	156850682	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488926	0.44249	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.24538	1.85;1.85	5.53	5.53	0.82687	EF-hand-like domain (1);	.	.	.	.	T	0.45915	0.1366	M	0.81497	2.545	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.52049	-0.8627	9	0.87932	D	0	.	14.6436	0.68742	1.0:0.0:0.0:0.0	.	2276	P02549	SPTA1_HUMAN	C	2276;2273	ENSP00000357130:F2276C;ENSP00000357129:F2273C	ENSP00000357129:F2273C	F	-	2	0	SPTA1	156850682	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	7.260000	0.78391	2.322000	0.78497	0.528000	0.53228	TTT		0.323	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158585177	158585177	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158585177A>G	ENST00000368147.4	-	48	6797	c.6617T>C	c.(6616-6618)aTc>aCc	p.I2206T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2206					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I2206T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATCGCCTGGATCTCCTTCTG	0.468																																					p.I2206T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6617C	1						.						140.0	134.0	136.0					1																	158585177		1901	4134	6035	156851801	SO:0001583	missense	6708	exon48			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6617T>C	1.37:g.158585177A>G	ENSP00000357129:p.Ile2206Thr	Somatic		Capture	Illumina HiSeq	Phase_I	156851801	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437674	0.83885	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.57436	0.4;0.4	5.65	5.65	0.86999	.	0.000000	0.32802	N	0.005629	T	0.66147	0.2760	M	0.74258	2.255	0.53688	D	0.999977	D	0.71674	0.998	D	0.76575	0.988	T	0.69826	-0.5040	10	0.59425	D	0.04	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	2206	P02549	SPTA1_HUMAN	T	2206;2203	ENSP00000357130:I2206T;ENSP00000357129:I2203T	ENSP00000357129:I2203T	I	-	2	0	SPTA1	156851801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.504000	0.90512	2.371000	0.80710	0.533000	0.62120	ATC		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158622424	158622424	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158622424G>T	ENST00000368147.4	-	23	3388	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1070					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1070W(1)|p.R1070R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCTGCCCGATCCAAGAGG	0.428																																					p.R1070R												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C3208A	1						.						91.0	84.0	86.0					1																	158622424		1871	4102	5973	156889048	SO:0001819	synonymous_variant	6708	exon23			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3208C>A	1.37:g.158622424G>T		Somatic		Capture	Illumina HiSeq	Phase_I	156889048	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158632555	158632555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158632555C>A	ENST00000368147.4	-	17	2581	c.2401G>T	c.(2401-2403)Gac>Tac	p.D801Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	801					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D801Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTCTGTGTCTCTACAAATC	0.517																																					p.D801Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2401T	1						.						100.0	102.0	102.0					1																	158632555		1950	4140	6090	156899179	SO:0001583	missense	6708	exon17			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2401G>T	1.37:g.158632555C>A	ENSP00000357129:p.Asp801Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156899179	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758291	0.49468	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56275	0.47;0.47	4.28	4.28	0.50868	.	0.000000	0.33895	N	0.004458	T	0.69886	0.3161	M	0.87758	2.905	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.76402	-0.2972	10	0.87932	D	0	.	13.5817	0.61907	0.0:1.0:0.0:0.0	.	801	P02549	SPTA1_HUMAN	Y	801	ENSP00000357130:D801Y;ENSP00000357129:D801Y	ENSP00000357129:D801Y	D	-	1	0	SPTA1	156899179	1.000000	0.71417	0.934000	0.37439	0.175000	0.22909	6.820000	0.75267	2.200000	0.70718	0.563000	0.77884	GAC		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158639307	158639307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158639307C>T	ENST00000368147.4	-	14	1904	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R575H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAATCTACGTCTAGTGGC	0.443																																					p.R575H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1724A	1						.						176.0	163.0	167.0					1																	158639307		1938	4144	6082	156905931	SO:0001583	missense	6708	exon14			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1724G>A	1.37:g.158639307C>T	ENSP00000357129:p.Arg575His	Somatic		Capture	Illumina HiSeq	Phase_I	156905931	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.384372	0.61845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	4.72	1.81	0.25067	.	0.319683	0.16110	N	0.229160	T	0.44222	0.1283	M	0.67700	2.07	0.30064	N	0.810644	D	0.71674	0.998	D	0.66602	0.945	T	0.22730	-1.0208	10	0.40728	T	0.16	.	6.6696	0.23060	0.1439:0.6995:0.0:0.1567	.	575	P02549	SPTA1_HUMAN	H	575	ENSP00000357130:R575H;ENSP00000357129:R575H	ENSP00000357129:R575H	R	-	2	0	SPTA1	156905931	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	5.206000	0.65192	0.314000	0.23086	-0.726000	0.03593	CGT		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158644400	158644400	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158644400A>C	ENST00000368147.4	-	9	1358	c.1178T>G	c.(1177-1179)aTc>aGc	p.I393S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	393					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I393S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGCATTGATCGCAGCAGT	0.493																																					p.I393S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1178G	1						.						165.0	158.0	160.0					1																	158644400		1997	4184	6181	156911024	SO:0001583	missense	6708	exon9			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1178T>G	1.37:g.158644400A>C	ENSP00000357129:p.Ile393Ser	Somatic		Capture	Illumina HiSeq	Phase_I	156911024	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157665	0.78114	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	5.04	5.04	0.67666	.	.	.	.	.	T	0.65322	0.2680	M	0.87617	2.895	0.58432	D	0.999994	D	0.76494	0.999	D	0.81914	0.995	T	0.72649	-0.4229	9	0.72032	D	0.01	.	12.7935	0.57547	1.0:0.0:0.0:0.0	.	393	P02549	SPTA1_HUMAN	S	393	ENSP00000357130:I393S;ENSP00000357129:I393S	ENSP00000357129:I393S	I	-	2	0	SPTA1	156911024	1.000000	0.71417	0.993000	0.49108	0.818000	0.46254	8.205000	0.89743	2.126000	0.65437	0.533000	0.62120	ATC		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K3	391114	broad.mit.edu	37	1	158687736	158687736	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158687736T>G	ENST00000368146.1	-	1	217	c.218A>C	c.(217-219)aAc>aCc	p.N73T	OR6K3_ENST00000368145.1_Missense_Mutation_p.N57T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N73T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATACATGGGGTTGTGGAGATG	0.383																																					p.N57T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A170C	1						.						126.0	140.0	135.0					1																	158687736		2203	4300	6503	156954360	SO:0001583	missense	391114	exon1			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.218A>C	1.37:g.158687736T>G	ENSP00000357128:p.Asn73Thr	Somatic		Capture	Illumina HiSeq	Phase_I	156954360	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.112753	0.00353	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01313	5.02;5.02	4.03	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.00289	-1.7	0.28218	N	0.926649	B	0.15141	0.012	B	0.16289	0.015	T	0.29212	-1.0019	9	0.02654	T	1	.	6.6771	0.23100	0.0:0.1039:0.5271:0.369	.	73	Q8NGY3	OR6K3_HUMAN	T	57;73	ENSP00000357127:N57T;ENSP00000357128:N73T	ENSP00000357127:N57T	N	-	2	0	OR6K3	156954360	0.002000	0.14202	0.910000	0.35882	0.079000	0.17450	-0.006000	0.12833	0.187000	0.20147	0.332000	0.21555	AAC		0.383	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			
OR6K3	391114	broad.mit.edu	37	1	158687822	158687822	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158687822G>T	ENST00000368146.1	-	1	131	c.132C>A	c.(130-132)ttC>ttA	p.F44L	OR6K3_ENST00000368145.1_Missense_Mutation_p.F28L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F44L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTAAAGGAAAGAAGTACAGGA	0.383																																					p.F28L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C84A	1						.						77.0	84.0	82.0					1																	158687822		2203	4300	6503	156954446	SO:0001583	missense	391114	exon1			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.132C>A	1.37:g.158687822G>T	ENSP00000357128:p.Phe44Leu	Somatic		Capture	Illumina HiSeq	Phase_I	156954446	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		.	.	.	.	.	.	.	.	.	.	G	15.63	2.889214	0.52014	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.04454	3.62;3.62	4.04	-1.11	0.09840	.	.	.	.	.	T	0.09642	0.0237	M	0.82193	2.58	0.09310	N	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.04621	-1.0938	9	0.72032	D	0.01	.	8.4937	0.33115	0.6847:0.0:0.3153:0.0	.	44	Q8NGY3	OR6K3_HUMAN	L	28;44	ENSP00000357127:F28L;ENSP00000357128:F44L	ENSP00000357127:F28L	F	-	3	2	OR6K3	156954446	0.000000	0.05858	0.013000	0.15412	0.840000	0.47671	-1.937000	0.01547	-0.090000	0.12462	0.440000	0.28878	TTC		0.383	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			
OR6K6	128371	broad.mit.edu	37	1	158725362	158725362	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158725362C>A	ENST00000368144.2	+	1	853	c.757C>A	c.(757-759)Ctg>Atg	p.L253M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L253M(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATAGTGATTCTGGGAATGCA	0.468																																					p.L253M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C757A	1						.						215.0	181.0	192.0					1																	158725362		2203	4300	6503	156991986	SO:0001583	missense	128371	exon1			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.757C>A	1.37:g.158725362C>A	ENSP00000357126:p.Leu253Met	Somatic		Capture	Illumina HiSeq	Phase_I	156991986	NM_001005184	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603647	0.28534	.	.	ENSG00000180433	ENST00000368144	T	0.00309	8.16	5.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34460	N	0.003959	T	0.00144	0.0004	M	0.62088	1.915	0.09310	N	1	D	0.61697	0.99	P	0.60286	0.872	T	0.41716	-0.9493	10	0.72032	D	0.01	-8.4688	4.5014	0.11865	0.0:0.4449:0.1558:0.3993	.	253	Q8NGW6	OR6K6_HUMAN	M	253	ENSP00000357126:L253M	ENSP00000357126:L253M	L	+	1	2	OR6K6	156991986	0.000000	0.05858	0.076000	0.20297	0.230000	0.25150	-1.196000	0.03041	0.141000	0.18875	0.655000	0.94253	CTG		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184	
OR6N2	81442	broad.mit.edu	37	1	158746790	158746790	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158746790G>T	ENST00000339258.1	-	1	635	c.636C>A	c.(634-636)ttC>ttA	p.F212L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F212L(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCATGATAAAGAAGAAAGTGA	0.418																																					p.F212L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C636A	1						.						54.0	54.0	54.0					1																	158746790		2203	4300	6503	157013414	SO:0001583	missense	81442	exon1			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.636C>A	1.37:g.158746790G>T	ENSP00000344101:p.Phe212Leu	Somatic		Capture	Illumina HiSeq	Phase_I	157013414	NM_001005278	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.427328	0.00184	.	.	ENSG00000188340	ENST00000339258	T	0.32515	1.45	5.07	-2.27	0.06846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34580	N	0.003843	T	0.00967	0.0032	N	0.00277	-1.72	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.02654	T	1	-13.6594	1.8589	0.03185	0.3849:0.1204:0.3584:0.1363	.	212	Q8NGY6	OR6N2_HUMAN	L	212	ENSP00000344101:F212L	ENSP00000344101:F212L	F	-	3	2	OR6N2	157013414	0.000000	0.05858	0.968000	0.41197	0.033000	0.12548	-4.202000	0.00275	-0.237000	0.09739	-0.172000	0.13284	TTC		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
MNDA	4332	broad.mit.edu	37	1	158815562	158815562	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158815562C>T	ENST00000368141.4	+	5	1017	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	252	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F252F(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGAAAGTCTTCGACATCAACT	0.378																																					p.F252F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	1						.						87.0	89.0	88.0					1																	158815562		2203	4300	6503	157082186	SO:0001819	synonymous_variant	4332	exon5			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.756C>T	1.37:g.158815562C>T		Somatic		Capture	Illumina HiSeq	Phase_I	157082186	NM_002432		Silent	SNP	ENST00000368141.4	37	CCDS1177.1																																																																																				0.378	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
PYHIN1	149628	broad.mit.edu	37	1	158906794	158906794	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158906794G>A	ENST00000368140.1	+	2	339	c.94G>A	c.(94-96)Gat>Aat	p.D32N	PYHIN1_ENST00000392254.2_Missense_Mutation_p.D32N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.D32N|PYHIN1_ENST00000368135.4_Missense_Mutation_p.D32N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.D32N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	32	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.D32N(3)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTGAGTAACGATTTAAAACT	0.338																																					p.D32N												.	.	3	Substitution - Missense(3)	skin(2)|large_intestine(1)	c.G94A	1						.						62.0	65.0	64.0					1																	158906794		2203	4300	6503	157173418	SO:0001583	missense	149628	exon2			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.94G>A	1.37:g.158906794G>A	ENSP00000357122:p.Asp32Asn	Somatic		Capture	Illumina HiSeq	Phase_I	157173418	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135673	0.37728	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	2.83	1.9	0.25705	Pyrin (2);	.	.	.	.	T	0.46541	0.1398	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.87578	0.997;0.988;0.991;0.998;0.859	T	0.22452	-1.0216	9	0.87932	D	0	.	5.7433	0.18106	0.1581:0.0:0.8419:0.0	.	32;32;32;32;32	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	N	32	ENSP00000407616:D32N;ENSP00000357122:D32N;ENSP00000357120:D32N;ENSP00000376083:D32N;ENSP00000376082:D32N;ENSP00000357117:D32N	ENSP00000357117:D32N	D	+	1	0	PYHIN1	157173418	0.625000	0.27111	0.001000	0.08648	0.000000	0.00434	2.195000	0.42677	0.511000	0.28236	-0.253000	0.11424	GAT		0.338	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
PYHIN1	149628	broad.mit.edu	37	1	158913733	158913733	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158913733T>C	ENST00000368140.1	+	6	1401	c.1156T>C	c.(1156-1158)Tca>Cca	p.S386P	PYHIN1_ENST00000392254.2_Missense_Mutation_p.S386P|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S377P|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S377P	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	386	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.S386P(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGAAAATATGTCAAAACTGAT	0.353																																					p.S377P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1129C	1						.						75.0	76.0	75.0					1																	158913733		2203	4300	6503	157180357	SO:0001583	missense	149628	exon6			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1156T>C	1.37:g.158913733T>C	ENSP00000357122:p.Ser386Pro	Somatic		Capture	Illumina HiSeq	Phase_I	157180357	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	T	3.916	-0.019152	0.07634	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	3.13	-6.26	0.02033	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.02807	0.0084	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.39542	-0.9609	9	0.28530	T	0.3	.	4.8167	0.13371	0.3119:0.4862:0.0:0.2019	.	377;386;377;386	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	P	386;377;386;377	ENSP00000357122:S386P;ENSP00000357120:S377P;ENSP00000376083:S386P;ENSP00000376082:S377P	ENSP00000357120:S377P	S	+	1	0	PYHIN1	157180357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.641000	0.00058	-1.689000	0.01434	-0.290000	0.09829	TCA		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
PYHIN1	149628	broad.mit.edu	37	1	158943483	158943483	+	Missense_Mutation	SNP	G	G	T	rs139161219	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158943483G>T	ENST00000368140.1	+	8	1651	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R460I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	469					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.R469I(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAAACTTTAGAATCACCTCA	0.443																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	1						.						166.0	147.0	154.0					1																	158943483		2203	4300	6503	157210107	SO:0001583	missense	149628	exon8			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1406G>T	1.37:g.158943483G>T	ENSP00000357122:p.Arg469Ile	Somatic		Capture	Illumina HiSeq	Phase_I	157210107	NM_152501	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137279	0.37728	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06687	3.29;3.27	1.95	-0.0693	0.13752	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P;P	0.42941	0.794;0.69	B;B	0.33568	0.166;0.08	T	0.45366	-0.9266	9	0.87932	D	0	.	4.2341	0.10616	0.3874:0.0:0.6126:0.0	.	460;469	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	I	469;460	ENSP00000357122:R469I;ENSP00000357120:R460I	ENSP00000357120:R460I	R	+	2	0	PYHIN1	157210107	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.934000	0.28910	-0.021000	0.14009	0.650000	0.86243	AGA		0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
DNAJC16	23341	broad.mit.edu	37	1	15862973	15862973	+	Missense_Mutation	SNP	C	C	A	rs547950256		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:15862973C>A	ENST00000375847.3	+	4	402	c.238C>A	c.(238-240)Ctt>Att	p.L80I	DNAJC16_ENST00000375849.1_Missense_Mutation_p.L80I|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L80I	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	80	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.L80I(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTATAGATTCTTTCAAATGA	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17735	0.0		0.0	False		,,,				2504	0.0				p.L80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C238A	1						.						26.0	27.0	26.0					1																	15862973		2171	4294	6465	15735560	SO:0001583	missense	23341	exon4			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.238C>A	1.37:g.15862973C>A	ENSP00000365007:p.Leu80Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15735560	NM_015291	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159086	0.57368	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.71698	-0.59;-0.59;-0.59	5.82	5.82	0.92795	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	L	0.50993	1.605	0.29157	N	0.877997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77667	-0.2502	10	0.87932	D	0	-16.5533	18.649	0.91423	0.0:1.0:0.0:0.0	.	80;80	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	I	80	ENSP00000365007:L80I;ENSP00000364998:L80I;ENSP00000365009:L80I	ENSP00000364998:L80I	L	+	1	0	DNAJC16	15735560	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	4.835000	0.62781	2.752000	0.94435	0.655000	0.94253	CTT		0.373	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
AIM2	9447	broad.mit.edu	37	1	159035966	159035966	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159035966C>A	ENST00000368130.4	-	4	838	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	184	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.E184*(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AATTCCTTTTCTGTAGCCACT	0.383																																					p.E184X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G550T	1						.						89.0	93.0	92.0					1																	159035966		2203	4300	6503	157302590	SO:0001587	stop_gained	9447	exon4			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.550G>T	1.37:g.159035966C>A	ENSP00000357112:p.Glu184*	Somatic		Capture	Illumina HiSeq	Phase_I	157302590	NM_004833	A8K7M7|Q5T3V9|Q96FG9	Nonsense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010354	0.35511	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	.	.	.	3.27	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-3.9212	10.1981	0.43067	0.0:1.0:0.0:0.0	.	.	.	.	X	184;47	.	ENSP00000357111:E47X	E	-	1	0	AIM2	157302590	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	0.326000	0.19646	1.817000	0.53016	0.561000	0.74099	GAA		0.383	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	
AGMAT	79814	broad.mit.edu	37	1	15904213	15904213	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:15904213C>T	ENST00000375826.3	-	5	1009	c.867G>A	c.(865-867)ggG>ggA	p.G289G	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	289					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)	p.G289G(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGGTGTCCCTGTCCCTG	0.517																																					p.G289G	NSCLC(126;1678 1780 25805 43508 49531)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G867A	1						.						124.0	109.0	114.0					1																	15904213		2203	4300	6503	15776800	SO:0001819	synonymous_variant	79814	exon5			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.867G>A	1.37:g.15904213C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15776800	NM_024758	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																				0.517	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
CADM3	57863	broad.mit.edu	37	1	159162412	159162412	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159162412G>A	ENST00000368125.4	+	3	431	c.274G>A	c.(274-276)Gag>Aag	p.E92K	CADM3_ENST00000368124.4_Missense_Mutation_p.E126K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	92	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E126K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACGCCCCACGAGCTCAGCAT	0.517																																					p.E126K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						152.0	124.0	133.0					1																	159162412		2203	4300	6503	157429036	SO:0001583	missense	57863	exon4			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.274G>A	1.37:g.159162412G>A	ENSP00000357107:p.Glu92Lys	Somatic		Capture	Illumina HiSeq	Phase_I	157429036	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304766	0.95601	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.64618	-0.11;-0.11;-0.11	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.958;1.0;0.995	T	0.82112	-0.0618	10	0.72032	D	0.01	.	16.3396	0.83078	0.0:0.0:1.0:0.0	.	92;92;126	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	K	126;92;92	ENSP00000357106:E126K;ENSP00000357107:E92K;ENSP00000387802:E92K	ENSP00000357106:E126K	E	+	1	0	CADM3	157429036	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	9.072000	0.93986	2.708000	0.92522	0.650000	0.86243	GAG		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
APCS	325	broad.mit.edu	37	1	159558238	159558238	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159558238C>T	ENST00000255040.2	+	2	509	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	138	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.L138L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAAAAAGGGTCTGCGACAGGG	0.512																																					p.L138L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C412T	1						.						77.0	78.0	77.0					1																	159558238		2203	4300	6503	157824862	SO:0001819	synonymous_variant	325	exon2				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.412C>T	1.37:g.159558238C>T		Somatic		Capture	Illumina HiSeq	Phase_I	157824862	NM_001639		Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																				0.512	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639	
CFAP45	25790	broad.mit.edu	37	1	159846520	159846520	+	Missense_Mutation	SNP	C	C	T	rs200252683		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159846520C>T	ENST00000368099.4	-	10	1242	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	CCDC19_ENST00000426543.2_Missense_Mutation_p.R308H|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.R393H(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTCCTGGTTGCGCTTGGCCCG	0.522																																					p.R393H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	1						.						79.0	63.0	68.0					1																	159846520		2203	4300	6503	158113144	SO:0001583	missense	25790	exon10																														ENST00000368099.4:c.1178G>A	1.37:g.159846520C>T	ENSP00000357079:p.Arg393His	Somatic		Capture	Illumina HiSeq	Phase_I	158113144	NM_012337		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.175217	0.78564	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.12255	2.7;2.7	5.16	4.23	0.50019	.	0.293814	0.33813	N	0.004537	T	0.07052	0.0179	L	0.55213	1.73	0.44424	D	0.997349	P	0.45240	0.854	B	0.39152	0.292	T	0.11324	-1.0592	9	.	.	.	-11.7207	11.0515	0.47893	0.0:0.9096:0.0:0.0904	.	393	Q9UL16	CCD19_HUMAN	H	393;308	ENSP00000357079:R393H;ENSP00000403044:R308H	.	R	-	2	0	CCDC19	158113144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.749000	0.62155	2.571000	0.86741	0.486000	0.48141	CGC		0.522	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
CFAP45	25790	broad.mit.edu	37	1	159858216	159858216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159858216C>T	ENST00000368099.4	-	4	407	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CCDC19_ENST00000426543.2_Missense_Mutation_p.A30T|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.A115T(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACATGGGATGCCCATTTGATT	0.527																																					p.A115T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	1						.						94.0	90.0	91.0					1																	159858216		2203	4300	6503	158124840	SO:0001583	missense	25790	exon4																														ENST00000368099.4:c.343G>A	1.37:g.159858216C>T	ENSP00000357079:p.Ala115Thr	Somatic		Capture	Illumina HiSeq	Phase_I	158124840	NM_012337		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474606	0.63737	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.46451	0.87;0.9	5.35	4.38	0.52667	.	0.327017	0.32703	N	0.005754	T	0.52158	0.1717	M	0.71581	2.175	0.39836	D	0.973046	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.52525	-0.8564	9	.	.	.	-10.1096	12.5139	0.56021	0.1675:0.8325:0.0:0.0	.	115;115	A8K884;Q9UL16	.;CCD19_HUMAN	T	115;30	ENSP00000357079:A115T;ENSP00000403044:A30T	.	A	-	1	0	CCDC19	158124840	0.978000	0.34361	1.000000	0.80357	0.716000	0.41182	2.479000	0.45197	2.501000	0.84356	0.655000	0.94253	GCA		0.527	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
KCNJ10	3766	broad.mit.edu	37	1	160012217	160012217	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160012217G>A	ENST00000368089.3	-	2	332	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	36					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.R36C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	ACGTTGCTGCGACCATCTTTT	0.542																																					p.R36C	GBM(167;1368 2014 14817 36425 43215)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106T	1						.						169.0	140.0	150.0					1																	160012217		2203	4300	6503	158278841	SO:0001583	missense	3766	exon2			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.106C>T	1.37:g.160012217G>A	ENSP00000357068:p.Arg36Cys	Somatic		Capture	Illumina HiSeq	Phase_I	158278841	NM_002241	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359862	0.82353	.	.	ENSG00000177807	ENST00000368089	D	0.94376	-3.41	5.17	5.17	0.71159	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.055852	0.64402	D	0.000001	D	0.96417	0.8831	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.96682	0.9504	10	0.87932	D	0	.	16.2022	0.82088	0.0:0.0:1.0:0.0	.	36	P78508	IRK10_HUMAN	C	36	ENSP00000357068:R36C	ENSP00000357068:R36C	R	-	1	0	KCNJ10	158278841	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.737000	0.62066	2.688000	0.91661	0.591000	0.81541	CGC		0.542	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241	
ATP1A2	477	broad.mit.edu	37	1	160098480	160098480	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160098480G>T	ENST00000361216.3	+	9	1145	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.K352N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	352					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.K352N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCACGGAAGAACTGCCTGG	0.577																																					p.K352N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T	1						.						105.0	95.0	98.0					1																	160098480		2203	4300	6503	158365104	SO:0001583	missense	477	exon9			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1056G>T	1.37:g.160098480G>T	ENSP00000354490:p.Lys352Asn	Somatic		Capture	Illumina HiSeq	Phase_I	158365104	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384197|4.384197	0.82792|0.82792	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.91631|.	-2.88;-2.88|.	4.77|4.77	3.84|3.84	0.44239|0.44239	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57917|0.57917	0.2086|0.2086	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	T|T	0.59010|0.59010	-0.7534|-0.7534	10|5	0.87932|.	D|.	0|.	.|.	12.6365|12.6365	0.56687|0.56687	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	197;352;252;352|.	B4DHD7;B1AKY9;F5GXJ7;P50993|.	.;.;.;AT1A2_HUMAN|.	N|I	197;352;352;55|63	ENSP00000354490:K352N;ENSP00000376066:K352N|.	ENSP00000354490:K352N|.	K|R	+|+	3|2	2|0	ATP1A2|ATP1A2	158365104|158365104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.746000|6.746000	0.74866|0.74866	1.104000|1.104000	0.41587|0.41587	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A4	480	broad.mit.edu	37	1	160129294	160129294	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160129294C>A	ENST00000368081.4	+	6	1227	c.756C>A	c.(754-756)ttC>ttA	p.F252L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	252					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F252L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACATCTGCTTCTTTTCCACCA	0.468																																					p.F252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C756A	1						.						98.0	100.0	99.0					1																	160129294		2203	4300	6503	158395918	SO:0001583	missense	480	exon6			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.756C>A	1.37:g.160129294C>A	ENSP00000357060:p.Phe252Leu	Somatic		Capture	Illumina HiSeq	Phase_I	158395918	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463441	0.84425	.	.	ENSG00000132681	ENST00000368081	D	0.90900	-2.75	4.48	4.48	0.54585	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.75150	2.29	0.80722	D	1	B	0.22909	0.077	B	0.39119	0.291	D	0.88723	0.3231	10	0.87932	D	0	.	8.5972	0.33723	0.0:0.8978:0.0:0.1022	.	252	Q13733	AT1A4_HUMAN	L	252	ENSP00000357060:F252L	ENSP00000357060:F252L	F	+	3	2	ATP1A4	158395918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.927000	0.56499	2.481000	0.83766	0.561000	0.74099	TTC		0.468	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160144452	160144452	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160144452C>T	ENST00000368081.4	+	15	2697	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	742					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.I742I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATGGGCATCTCTGGCTCTG	0.602																																					p.I742I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	1						.						133.0	101.0	112.0					1																	160144452		2203	4300	6503	158411076	SO:0001819	synonymous_variant	480	exon15			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2226C>T	1.37:g.160144452C>T		Somatic		Capture	Illumina HiSeq	Phase_I	158411076	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.602	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
CASQ1	844	broad.mit.edu	37	1	160165695	160165695	+	Missense_Mutation	SNP	G	G	T	rs146742224	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160165695G>T	ENST00000368078.3	+	6	856	c.660G>T	c.(658-660)aaG>aaT	p.K220N	CASQ1_ENST00000368079.3_Missense_Mutation_p.K214N|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	220					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.K214N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTGGCAAAGAAGCTGACCC	0.512																																					p.K220N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G660T	1						.	G	ASN/LYS	0,4406		0,0,2203	96.0	96.0	96.0		660	4.4	1.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CASQ1	NM_001231.4	94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	220/397	160165695	1,13005	2203	4300	6503	158432319	SO:0001583	missense	844	exon6			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.660G>T	1.37:g.160165695G>T	ENSP00000357057:p.Lys220Asn	Somatic		Capture	Illumina HiSeq	Phase_I	158432319	NM_001231	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891182	0.72524	0.0	1.16E-4	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.79352	-1.26;-1.26	5.35	4.44	0.53790	Thioredoxin-like fold (2);	0.100856	0.64402	D	0.000003	D	0.82398	0.5028	M	0.83223	2.63	0.43678	D	0.996113	D	0.61080	0.989	P	0.57679	0.825	D	0.85834	0.1393	10	0.87932	D	0	.	13.231	0.59943	0.0783:0.0:0.9217:0.0	.	220	P31415	CASQ1_HUMAN	N	214;220;135	ENSP00000357058:K214N;ENSP00000357057:K220N	ENSP00000357057:K220N	K	+	3	2	CASQ1	158432319	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.269000	0.51592	1.395000	0.46643	0.555000	0.69702	AAG		0.512	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
CD84	8832	broad.mit.edu	37	1	160523271	160523271	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160523271G>A	ENST00000311224.4	-	4	723	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CD84_ENST00000368054.3_Silent_p.F219F|CD84_ENST00000368048.3_Silent_p.F219F|CD84_ENST00000368047.3_5'Flank|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Silent_p.F105F|CD84_ENST00000368051.3_Silent_p.F219F	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	219					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F219F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTGAGTACGGAAGCCCATTG	0.493																																					p.F219F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657T	1						.						112.0	104.0	107.0					1																	160523271		2203	4300	6503	158789895	SO:0001819	synonymous_variant	8832	exon4			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.657C>T	1.37:g.160523271G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158789895	NM_001184879	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	CCDS53396.1																																																																																				0.493	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
SLAMF7	57823	broad.mit.edu	37	1	160719650	160719650	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160719650G>A	ENST00000368043.3	+	3	453	c.416G>A	c.(415-417)aGc>aAc	p.S139N	SLAMF7_ENST00000368042.3_Missense_Mutation_p.S32N|SLAMF7_ENST00000359331.4_Missense_Mutation_p.S139N|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.S32N|SLAMF7_ENST00000458104.2_Missense_Mutation_p.S32N	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	139	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S139N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTCTGCAGAGCAATAAGAAT	0.493																																					p.S139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	1						.						121.0	121.0	121.0					1																	160719650		2203	4300	6503	158986274	SO:0001583	missense	57823	exon3			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.416G>A	1.37:g.160719650G>A	ENSP00000357022:p.Ser139Asn	Somatic		Capture	Illumina HiSeq	Phase_I	158986274	NM_021181	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	G	5.330	0.246239	0.10130	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.27	-2.74	0.05932	Immunoglobulin-like (1);	0.825642	0.11309	N	0.577377	T	0.01627	0.0052	N	0.04959	-0.14	0.09310	N	1	B;B;B;B;B;B	0.30563	0.056;0.028;0.124;0.1;0.285;0.04	B;B;B;B;B;B	0.31016	0.061;0.016;0.057;0.038;0.123;0.096	T	0.44967	-0.9293	10	0.18710	T	0.47	-7.8774	4.0847	0.09942	0.2853:0.0:0.4118:0.3029	.	32;32;32;32;139;139	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	N	139;32;32;32;139	ENSP00000357022:S139N;ENSP00000357021:S32N;ENSP00000409965:S32N;ENSP00000403294:S32N;ENSP00000352281:S139N	ENSP00000352281:S139N	S	+	2	0	SLAMF7	158986274	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.744000	0.04839	-0.243000	0.09653	0.650000	0.86243	AGC		0.493	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	
CD244	51744	broad.mit.edu	37	1	160811502	160811502	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160811502C>T	ENST00000368033.3	-	2	333	c.251G>A	c.(250-252)aGt>aAt	p.S84N	CD244_ENST00000368032.2_Missense_Mutation_p.S84N|CD244_ENST00000322302.7_Missense_Mutation_p.S84N|CD244_ENST00000368034.4_Missense_Mutation_p.S84N|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	84	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S84N(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GACTATAAAACTGAATCTATC	0.438																																					p.S84N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	1						.						95.0	89.0	91.0					1																	160811502		2203	4300	6503	159078126	SO:0001583	missense	51744	exon2			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.251G>A	1.37:g.160811502C>T	ENSP00000357012:p.Ser84Asn	Somatic		Capture	Illumina HiSeq	Phase_I	159078126	NM_001166664	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.566335	0.00903	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.36	-8.72	0.00845	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);Immunoglobulin-like fold (1);	1.787060	0.02825	N	0.126052	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.10450	0.004;0.005;0.003	T	0.11817	-1.0572	10	0.12766	T	0.61	-3.7687	1.8666	0.03200	0.201:0.1137:0.2006:0.4847	.	84;84;84	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	N	84	ENSP00000357013:S84N;ENSP00000357012:S84N;ENSP00000313619:S84N;ENSP00000357011:S84N	ENSP00000313619:S84N	S	-	2	0	CD244	159078126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.784000	0.00367	-2.560000	0.00474	-0.892000	0.02923	AGT		0.438	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382	
ITLN2	142683	broad.mit.edu	37	1	160920398	160920398	+	Missense_Mutation	SNP	C	C	T	rs375337380		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160920398C>T	ENST00000368029.3	-	5	602	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R182H(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTGTTGGTGCGGTACCTCAG	0.572																																					p.R182H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	1						.	C	HIS/ARG	0,4406		0,0,2203	165.0	145.0	152.0		545	-4.3	0.4	1		152	3,8597	3.0+/-9.4	0,3,4297	no	missense	ITLN2	NM_080878.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	182/326	160920398	3,13003	2203	4300	6503	159187022	SO:0001583	missense	142683	exon5			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.545G>A	1.37:g.160920398C>T	ENSP00000357008:p.Arg182His	Somatic		Capture	Illumina HiSeq	Phase_I	159187022	NM_080878	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	0.467	-0.886482	0.02511	0.0	3.49E-4	ENSG00000158764	ENST00000368029	T	0.20200	2.09	4.47	-4.3	0.03710	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.540328	0.14578	N	0.311078	T	0.01592	0.0051	N	0.11870	0.19	0.26117	N	0.980605	B;B	0.21520	0.057;0.025	B;B	0.15052	0.012;0.012	T	0.39251	-0.9623	10	0.02654	T	1	-1.2852	5.8813	0.18856	0.123:0.404:0.0:0.473	.	181;182	A6NI51;Q8WWU7	.;ITLN2_HUMAN	H	182	ENSP00000357008:R182H	ENSP00000357008:R182H	R	-	2	0	ITLN2	159187022	0.992000	0.36948	0.360000	0.25837	0.017000	0.09413	0.053000	0.14184	-1.333000	0.02247	-1.069000	0.02264	CGC		0.572	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878	
USF1	7391	broad.mit.edu	37	1	161010451	161010451	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161010451C>T	ENST00000368021.3	-	9	833	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TSTD1_ENST00000466967.1_5'Flank|USF1_ENST00000435396.1_Missense_Mutation_p.R151H|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.R182H|F11R_ENST00000289779.3_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.R210H|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000423014.2_5'Flank	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	210	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R210H(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCTCGGCGGCGACGCTCCAC	0.537																																					p.R210H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629A	1						.						69.0	68.0	68.0					1																	161010451		2203	4300	6503	159277075	SO:0001583	missense	7391	exon9			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.629G>A	1.37:g.161010451C>T	ENSP00000357000:p.Arg210His	Somatic		Capture	Illumina HiSeq	Phase_I	159277075	NM_007122	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907040	0.92107	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000531842	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.24	5.24	0.73138	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99113	1.0847	10	0.87932	D	0	-13.3906	16.3815	0.83462	0.0:1.0:0.0:0.0	.	210	P22415	USF1_HUMAN	H	210;210;151;182;149	ENSP00000356999:R210H;ENSP00000357000:R210H;ENSP00000390109:R151H;ENSP00000356998:R182H;ENSP00000435005:R149H	ENSP00000356998:R182H	R	-	2	0	USF1	159277075	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.268000	0.78473	2.724000	0.93272	0.561000	0.74099	CGC		0.537	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122	
USF1	7391	broad.mit.edu	37	1	161011504	161011504	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161011504C>A	ENST00000368021.3	-	6	613	c.409G>T	c.(409-411)Gct>Tct	p.A137S	TSTD1_ENST00000466967.1_5'Flank|USF1_ENST00000435396.1_Missense_Mutation_p.A78S|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000368019.1_Intron|F11R_ENST00000289779.3_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.A137S|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000423014.2_5'Flank	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	137					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.A137S(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAACAGCAGCTGTACTCCCC	0.597											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A137S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409T	1						.						82.0	77.0	79.0					1																	161011504		2203	4300	6503	159278128	SO:0001583	missense	7391	exon6			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.409G>T	1.37:g.161011504C>A	ENSP00000357000:p.Ala137Ser	Somatic	1813	Capture	Illumina HiSeq	Phase_I	159278128	NM_007122	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	CCDS1214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.954742|1.954742	0.34471|0.34471	.|.	.|.	ENSG00000158773|ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000534633|ENST00000528768	D;D;D|.	0.93307|.	-3.14;-3.14;-3.2|.	5.23|5.23	4.31|4.31	0.51392|0.51392	.|.	0.048903|.	0.85682|.	D|.	0.000000|.	T|T	0.21145|0.21145	0.0509|0.0509	L|L	0.36672|0.36672	1.1|1.1	0.27462|0.27462	N|N	0.953139|0.953139	B|.	0.27229|.	0.172|.	B|.	0.22386|.	0.039|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|5	0.08837|.	T|.	0.75|.	-11.603|-11.603	10.7356|10.7356	0.46122|0.46122	0.0:0.9069:0.0:0.0931|0.0:0.9069:0.0:0.0931	.|.	137|.	P22415|.	USF1_HUMAN|.	S|I	137;137;78;78|3	ENSP00000356999:A137S;ENSP00000357000:A137S;ENSP00000390109:A78S|.	ENSP00000356999:A137S|.	A|S	-|-	1|2	0|0	USF1|USF1	159278128|159278128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.144000|3.144000	0.50616|0.50616	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.597	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122	
ARHGAP30	257106	broad.mit.edu	37	1	161023124	161023124	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161023124C>A	ENST00000368013.3	-	6	908	c.588G>T	c.(586-588)gaG>gaT	p.E196D	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E196D|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E19D	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	196	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E196D(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTACCCGCACCTCCATGAAGG	0.572																																					p.E196D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G588T	1						.						149.0	109.0	123.0					1																	161023124		2203	4300	6503	159289748	SO:0001583	missense	257106	exon6			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.588G>T	1.37:g.161023124C>A	ENSP00000356992:p.Glu196Asp	Somatic		Capture	Illumina HiSeq	Phase_I	159289748	NM_181720	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462588	0.84425	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.51574	2.83;2.83;0.7	5.54	2.65	0.31530	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.31526	0.94	0.39202	D	0.963168	D;D	0.65815	0.995;0.995	D;D	0.67548	0.952;0.941	T	0.08953	-1.0697	10	0.20519	T	0.43	.	9.5748	0.39450	0.0:0.7637:0.0:0.2363	.	196;196	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	D	196;196;48;19	ENSP00000356995:E196D;ENSP00000356992:E196D;ENSP00000356994:E19D	ENSP00000356992:E196D	E	-	3	2	ARHGAP30	159289748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.810000	0.38932	0.722000	0.32252	-0.145000	0.13849	GAG		0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720	
NIT1	4817	broad.mit.edu	37	1	161090368	161090368	+	Missense_Mutation	SNP	G	G	T	rs190215650	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161090368G>T	ENST00000368009.2	+	7	873	c.797G>T	c.(796-798)aGa>aTa	p.R266I	NIT1_ENST00000392190.5_Missense_Mutation_p.R230I|PFDN2_ENST00000368010.3_5'Flank|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368008.1_Intron|NIT1_ENST00000368007.4_Missense_Mutation_p.R251I|DEDD_ENST00000489249.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	266	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)	p.R266I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATGAGAAGAGAGCAAGTTAT	0.597																																					p.R266I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797T	1						.						73.0	70.0	71.0					1																	161090368		2203	4300	6503	159356992	SO:0001583	missense	4817	exon7			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.797G>T	1.37:g.161090368G>T	ENSP00000356988:p.Arg266Ile	Somatic		Capture	Illumina HiSeq	Phase_I	159356992	NM_005600	B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	ENST00000368009.2	37	CCDS1218.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282798	0.80692	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	D;D;D	0.87256	-2.23;-2.23;-2.23	4.9	4.9	0.64082	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.945;0.964	D	0.93360	0.6726	10	0.87932	D	0	-10.6629	15.6362	0.76953	0.0:0.0:1.0:0.0	.	251;266	Q86X76-4;Q86X76	.;NIT1_HUMAN	I	266;251;230	ENSP00000356988:R266I;ENSP00000356986:R251I;ENSP00000376028:R230I	ENSP00000356986:R251I	R	+	2	0	NIT1	159356992	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.420000	0.90256	2.551000	0.86045	0.563000	0.77884	AGA		0.597	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1		
USP21	27005	broad.mit.edu	37	1	161130965	161130965	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161130965T>C	ENST00000289865.8	+	2	756	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.S179P|USP21_ENST00000368002.3_Missense_Mutation_p.S179P	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	179					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S179P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCCCCTGCTTCCCATGGCTC	0.587																																					p.S179P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T535C	1						.						60.0	55.0	57.0					1																	161130965		2203	4300	6503	159397589	SO:0001583	missense	27005	exon2			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.535T>C	1.37:g.161130965T>C	ENSP00000289865:p.Ser179Pro	Somatic		Capture	Illumina HiSeq	Phase_I	159397589	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710840	0.30322	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.41400	1.0;1.0;1.0	5.03	1.11	0.20524	.	1.006310	0.07991	N	0.987081	T	0.06781	0.0173	N	0.08118	0	0.25005	N	0.991442	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	10	0.45353	T	0.12	.	0.5935	0.00732	0.1742:0.2581:0.1587:0.409	.	179	Q9UK80	UBP21_HUMAN	P	179	ENSP00000356981:S179P;ENSP00000289865:S179P;ENSP00000356980:S179P	ENSP00000289865:S179P	S	+	1	0	USP21	159397589	1.000000	0.71417	0.891000	0.34965	0.887000	0.51463	0.531000	0.23052	0.381000	0.24851	0.460000	0.39030	TCC		0.587	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
B4GALT3	8703	broad.mit.edu	37	1	161141674	161141674	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161141674G>A	ENST00000319769.5	-	8	1336	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R372C	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	372					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R372C(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGGGCCGGCGTTGCAGCATC	0.602																																					p.R372C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1114T	1						.						59.0	67.0	64.0					1																	161141674		2203	4300	6503	159408298	SO:0001583	missense	8703	exon8			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.1114C>T	1.37:g.161141674G>A	ENSP00000320965:p.Arg372Cys	Somatic		Capture	Illumina HiSeq	Phase_I	159408298	NM_001199874	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225677	0.39300	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.54866	0.55;0.55	5.28	5.28	0.74379	.	0.084162	0.49305	D	0.000146	T	0.27765	0.0683	N	0.22421	0.69	0.44660	D	0.997646	D	0.63880	0.993	B	0.41135	0.348	T	0.27331	-1.0077	10	0.87932	D	0	.	13.399	0.60872	0.0:0.0:0.8422:0.1578	.	372	O60512	B4GT3_HUMAN	C	372;349;372;372	ENSP00000320965:R372C;ENSP00000356977:R372C	ENSP00000320965:R372C	R	-	1	0	B4GALT3	159408298	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.709000	0.47160	2.746000	0.94184	0.655000	0.94253	CGC		0.602	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779	
ADAMTS4	9507	broad.mit.edu	37	1	161167952	161167952	+	Missense_Mutation	SNP	G	G	A	rs546291574		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161167952G>A	ENST00000367996.5	-	1	894	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.R156W|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	156					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.R156W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TCAGCCCCCCGATATTGTAAC	0.632																																					p.R156W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C466T	1						.						57.0	58.0	58.0					1																	161167952		2203	4300	6503	159434576	SO:0001583	missense	9507	exon1			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.466C>T	1.37:g.161167952G>A	ENSP00000356975:p.Arg156Trp	Somatic		Capture	Illumina HiSeq	Phase_I	159434576	NM_005099	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401656	0.42613	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.06449	3.3;3.3	5.44	4.5	0.54988	Peptidase M12B, propeptide (1);	0.244243	0.27773	N	0.017910	T	0.09202	0.0227	L	0.52573	1.65	0.31738	N	0.636143	D;D	0.76494	0.999;0.999	P;P	0.61658	0.877;0.892	T	0.01512	-1.1336	10	0.66056	D	0.02	.	14.1608	0.65446	0.0:0.0:0.8486:0.1514	.	156;156	Q5VTW1;O75173	.;ATS4_HUMAN	W	156	ENSP00000356975:R156W;ENSP00000356974:R156W	ENSP00000356974:R156W	R	-	1	2	ADAMTS4	159434576	0.797000	0.28877	0.018000	0.16275	0.446000	0.32137	2.515000	0.45512	1.230000	0.43646	0.491000	0.48974	CGG		0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
C1orf192	257177	broad.mit.edu	37	1	161334889	161334889	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161334889T>C	ENST00000367974.1	-	5	405	c.400A>G	c.(400-402)Act>Gct	p.T134A	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	134								p.T134A(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGTTGTACAGTCTTTGTGATA	0.498																																					p.T134A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A400G	1						.						326.0	286.0	299.0					1																	161334889		2203	4300	6503	159601513	SO:0001583	missense	257177	exon5				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.400A>G	1.37:g.161334889T>C	ENSP00000356951:p.Thr134Ala	Somatic		Capture	Illumina HiSeq	Phase_I	159601513	NM_001013625		Missense_Mutation	SNP	ENST00000367974.1	37	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655364	0.29425	.	.	ENSG00000188931	ENST00000367974	.	.	.	4.33	2.05	0.26809	.	0.783632	0.11220	N	0.586847	T	0.20129	0.0484	L	0.51422	1.61	0.27151	N	0.961413	B	0.02656	0.0	B	0.04013	0.001	T	0.09997	-1.0649	8	0.49607	T	0.09	-1.404	5.285	0.15696	0.0:0.2304:0.0:0.7696	.	134	Q5VTH2	CA192_HUMAN	A	134	.	ENSP00000356951:T134A	T	-	1	0	C1orf192	159601513	0.970000	0.33590	0.856000	0.33681	0.994000	0.84299	0.908000	0.28545	0.791000	0.33826	0.533000	0.62120	ACT		0.498	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625	
FCGR3A	2214	broad.mit.edu	37	1	161512913	161512913	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161512913A>C	ENST00000436743.1	-	6	808	c.654T>G	c.(652-654)ctT>ctG	p.L218L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000540048.1_Silent_p.L218L|FCGR3A_ENST00000367969.3_Silent_p.L254L|FCGR3A_ENST00000443193.1_Silent_p.L253L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	218					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L254L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCACTGCAAAAAGGAGTACCA	0.433																																					p.L218L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T654G	1						.						111.0	117.0	115.0					1																	161512913		2203	4298	6501	159779537	SO:0001819	synonymous_variant	2214	exon6			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.654T>G	1.37:g.161512913A>C		Somatic		Capture	Illumina HiSeq	Phase_I	159779537	NM_001127595	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	A	5.372	0.253944	0.10185	.	.	ENSG00000203747	ENST00000426740	.	.	.	4.44	1.5	0.22942	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13575	-1.0504	4	.	.	.	.	3.912	0.09207	0.198:0.5972:0.0:0.2048	.	.	.	.	C	235	.	.	F	-	2	0	FCGR3A	159779537	0.989000	0.36119	0.931000	0.37212	0.588000	0.36517	-0.143000	0.10296	0.217000	0.20800	-0.452000	0.05504	TTT		0.433	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
FCGR3A	2214	broad.mit.edu	37	1	161559542	161559542	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161559542C>T	ENST00000540048.1	-	2	94				FCGR2C_ENST00000473530.2_RNA|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAATGACAGCGGGGAGTACA	0.597																																					p.S108S												.	.	0			c.C324T	1						.						35.0	35.0	35.0					1																	161559542		2151	4134	6285	159826166	SO:0001627	intron_variant	9103	exon3			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+40615G>A	1.37:g.161559542C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159826166	NM_201563	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37																																																																																					0.597	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	
FCGR2B	2213	broad.mit.edu	37	1	161641411	161641411	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161641411C>T	ENST00000358671.5	+	3	444	c.363C>T	c.(361-363)agC>agT	p.S121S	FCGR2B_ENST00000367962.4_Silent_p.S121S|FCGR2B_ENST00000367960.5_Silent_p.S114S|FCGR2B_ENST00000236937.9_Silent_p.S121S|FCGR2B_ENST00000367961.4_Silent_p.S114S|FCGR2B_ENST00000403078.3_Silent_p.S121S|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000428605.2_Silent_p.S121S	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	121	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S121S(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGCCTCAGCGACCCTGTGC	0.592			T	?	ALL																																p.S114S			Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C342T	1						.						29.0	31.0	31.0					1																	161641411		2203	4296	6499	159908035	SO:0001819	synonymous_variant	2213	exon2			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.363C>T	1.37:g.161641411C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159908035	NM_001190828	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	CCDS30924.1																																																																																				0.592	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	
OLFML2B	25903	broad.mit.edu	37	1	161969937	161969937	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:161969937C>A	ENST00000294794.3	-	5	1338	c.915G>T	c.(913-915)aaG>aaT	p.K305N	OLFML2B_ENST00000367940.2_Missense_Mutation_p.K306N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	305					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.K305N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTTCAGAGACCTTGGCTTTAT	0.597																																					p.K305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	1						.						77.0	81.0	80.0					1																	161969937		2203	4300	6503	160236561	SO:0001583	missense	25903	exon5			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.915G>T	1.37:g.161969937C>A	ENSP00000294794:p.Lys305Asn	Somatic		Capture	Illumina HiSeq	Phase_I	160236561	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531366	0.45073	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.42513	0.97;0.97	5.11	3.23	0.37069	.	.	.	.	.	T	0.14700	0.0355	L	0.33485	1.01	0.32805	D	0.500610	P;B	0.44734	0.842;0.205	B;B	0.42771	0.397;0.085	T	0.05338	-1.0891	8	0.22109	T	0.4	.	7.2468	0.26127	0.0:0.7319:0.0:0.2681	.	306;305	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	N	305;306	ENSP00000294794:K305N;ENSP00000356917:K306N	ENSP00000294794:K305N	K	-	3	2	OLFML2B	160236561	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.002000	0.40835	0.547000	0.28938	0.561000	0.74099	AAG		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
NOS1AP	9722	broad.mit.edu	37	1	162325087	162325087	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:162325087G>T	ENST00000361897.5	+	7	1108	c.706G>T	c.(706-708)Ggt>Tgt	p.G236C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.G231C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	236					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.G236C(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATTCAGCCGAGGTGTGACTGA	0.582																																					p.G231C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G691T	1						.						131.0	117.0	122.0					1																	162325087		2203	4300	6503	160591711	SO:0001583	missense	9722	exon7			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.706G>T	1.37:g.162325087G>T	ENSP00000355133:p.Gly236Cys	Somatic		Capture	Illumina HiSeq	Phase_I	160591711	NM_001164757	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227296	0.58668	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78595	-1.19;-1.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	L	0.59436	1.845	.	.	.	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.97110	1.0;0.915;0.87	T	0.82802	-0.0277	9	0.44086	T	0.13	.	17.7677	0.88483	0.0:0.0:1.0:0.0	.	231;231;236	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	231;236	ENSP00000431586:G231C;ENSP00000355133:G236C	ENSP00000355133:G236C	G	+	1	0	NOS1AP	160591711	1.000000	0.71417	0.892000	0.35008	0.169000	0.22640	7.412000	0.80091	2.523000	0.85059	0.655000	0.94253	GGT		0.582	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
NOS1AP	9722	broad.mit.edu	37	1	162335355	162335355	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:162335355C>T	ENST00000361897.5	+	9	1503	c.1101C>T	c.(1099-1101)aaC>aaT	p.N367N	NOS1AP_ENST00000530878.1_Silent_p.N362N|RP11-565P22.6_ENST00000431696.1_Silent_p.N53N|NOS1AP_ENST00000493151.1_Silent_p.N72N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	367					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.N367N(2)|p.N72N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGGACAGAACGCCAGTAAGC	0.542																																					p.N362N												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1086T	1						.						51.0	44.0	46.0					1																	162335355		2203	4300	6503	160601979	SO:0001819	synonymous_variant	9722	exon9			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1101C>T	1.37:g.162335355C>T		Somatic		Capture	Illumina HiSeq	Phase_I	160601979	NM_001164757	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	CCDS1237.1																																																																																				0.542	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
DDR2	4921	broad.mit.edu	37	1	162740231	162740231	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:162740231G>A	ENST00000367922.3	+	13	1871	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	DDR2_ENST00000367921.3_Missense_Mutation_p.R478H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	478			R -> C (in dbSNP:rs34869543). {ECO:0000269|PubMed:17344846}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R478H(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TTTCCCCTTCGCCCTGACTAC	0.527																																					p.R478H	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1433A	1						.						161.0	140.0	147.0					1																	162740231		2203	4300	6503	161006855	SO:0001583	missense	4921	exon13			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1433G>A	1.37:g.162740231G>A	ENSP00000356899:p.Arg478His	Somatic		Capture	Illumina HiSeq	Phase_I	161006855	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133792	0.77662	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	D;D;T	0.83591	-1.74;-1.74;1.46	5.79	5.79	0.91817	.	0.210419	0.49305	D	0.000146	T	0.44201	0.1282	N	0.03608	-0.345	0.28819	N	0.897812	P	0.42871	0.792	B	0.22601	0.04	T	0.59757	-0.7394	9	0.14656	T	0.56	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	478	Q16832	DDR2_HUMAN	H	478;478;88	ENSP00000356899:R478H;ENSP00000356898:R478H;ENSP00000417030:R88H	ENSP00000356898:R478H	R	+	2	0	DDR2	161006855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	2.733000	0.93635	0.655000	0.94253	CGC		0.527	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
SPEN	23013	broad.mit.edu	37	1	16257958	16257958	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:16257958G>A	ENST00000375759.3	+	11	5427	c.5223G>A	c.(5221-5223)tcG>tcA	p.S1741S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1741					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1741S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGGGCCTCGTTTTCCCAGG	0.562																																					p.S1741S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5223A	1						.						134.0	149.0	144.0					1																	16257958		2203	4300	6503	16130545	SO:0001819	synonymous_variant	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5223G>A	1.37:g.16257958G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16130545	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
DDR2	4921	broad.mit.edu	37	1	162741934	162741934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:162741934C>T	ENST00000367922.3	+	14	2063	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DDR2_ENST00000367921.3_Missense_Mutation_p.A542V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	542					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A542V(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCAGTGCCTGCCGTCACCATG	0.562																																					p.A542V	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1625T	1						.						78.0	69.0	72.0					1																	162741934		2203	4300	6503	161008558	SO:0001583	missense	4921	exon14			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1625C>T	1.37:g.162741934C>T	ENSP00000356899:p.Ala542Val	Somatic		Capture	Illumina HiSeq	Phase_I	161008558	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908955	0.72868	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.84070	-1.8;-1.8	5.42	5.42	0.78866	Protein kinase-like domain (1);	0.050135	0.85682	D	0.000000	T	0.74222	0.3688	L	0.58669	1.825	0.39098	D	0.961228	B	0.31193	0.312	B	0.31245	0.126	T	0.74156	-0.3756	9	0.32370	T	0.25	.	17.7948	0.88566	0.0:1.0:0.0:0.0	.	542	Q16832	DDR2_HUMAN	V	542	ENSP00000356899:A542V;ENSP00000356898:A542V	ENSP00000356898:A542V	A	+	2	0	DDR2	161008558	1.000000	0.71417	0.947000	0.38551	0.992000	0.81027	7.380000	0.79704	2.536000	0.85505	0.655000	0.94253	GCC		0.562	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
RGS4	5999	broad.mit.edu	37	1	163043282	163043282	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:163043282A>G	ENST00000367909.6	+	4	588	c.248A>G	c.(247-249)gAa>gGa	p.E83G	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.E65G|RGS4_ENST00000421743.2_Missense_Mutation_p.E180G|RGS4_ENST00000531057.1_Missense_Mutation_p.E83G|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.E65G	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	83	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.E180G(1)|p.E83G(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGAAGTCTGAATATAGTGAG	0.403																																					p.E65G	Ovarian(76;1257 1738 3039 6086)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A194G	1						.						126.0	119.0	121.0					1																	163043282		2203	4300	6503	161309906	SO:0001583	missense	5999	exon4			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.248A>G	1.37:g.163043282A>G	ENSP00000356885:p.Glu83Gly	Somatic		Capture	Illumina HiSeq	Phase_I	161309906	NM_001113380	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767379	0.90020	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367906;ENST00000528938	T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31	4.79	4.79	0.61399	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.22556	-1.0213	10	0.87932	D	0	.	12.3292	0.55028	1.0:0.0:0.0:0.0	.	83;180	P49798;A7XA59	RGS4_HUMAN;.	G	180;83;83;65;65;65	ENSP00000397181:E180G;ENSP00000356885:E83G;ENSP00000436106:E83G;ENSP00000433261:E65G;ENSP00000356882:E65G;ENSP00000432194:E65G	ENSP00000356882:E65G	E	+	2	0	RGS4	161309906	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	8.981000	0.93465	1.999000	0.58509	0.528000	0.53228	GAA		0.403	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	
NUF2	83540	broad.mit.edu	37	1	163297332	163297332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:163297332C>T	ENST00000271452.3	+	3	457	c.178C>T	c.(178-180)Cga>Tga	p.R60*	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Nonsense_Mutation_p.R60*|NUF2_ENST00000524800.1_Nonsense_Mutation_p.R60*	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	60	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.R60*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATATGGAATTCGACTGGAACA	0.348																																					p.R60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C178T	1						.						171.0	172.0	172.0					1																	163297332		2203	4300	6503	161563956	SO:0001587	stop_gained	83540	exon3			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.178C>T	1.37:g.163297332C>T	ENSP00000271452:p.Arg60*	Somatic		Capture	Illumina HiSeq	Phase_I	161563956	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Nonsense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969966	0.97156	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	.	.	.	4.98	4.98	0.66077	.	0.176598	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-14.4891	15.652	0.77104	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000271452:R60X	R	+	1	2	NUF2	161563956	1.000000	0.71417	0.940000	0.37924	0.973000	0.67179	3.954000	0.56708	2.755000	0.94549	0.563000	0.77884	CGA		0.348	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:163317623C>T	ENST00000271452.3	+	12	1298	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_ENST00000367900.3_Missense_Mutation_p.S340L|NUF2_ENST00000524800.1_Missense_Mutation_p.S293L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	340	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.S340L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338																																					p.S340L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1019T	1						.						80.0	82.0	81.0					1																	163317623		2203	4300	6503	161584247	SO:0001583	missense	83540	exon12			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1019C>T	1.37:g.163317623C>T	ENSP00000271452:p.Ser340Leu	Somatic		Capture	Illumina HiSeq	Phase_I	161584247	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201709	0.79015	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.33438	1.41;1.52;1.52	6.03	5.11	0.69529	.	0.200321	0.45606	N	0.000343	T	0.21590	0.0520	L	0.51422	1.61	0.34261	D	0.679949	D;D	0.63046	0.992;0.992	P;P	0.48063	0.565;0.565	T	0.02144	-1.1206	9	0.27082	T	0.32	-6.7455	12.874	0.57980	0.0:0.9225:0.0:0.0775	.	293;340	E9PQC4;Q9BZD4	.;NUF2_HUMAN	L	293;340;340	ENSP00000436888:S293L;ENSP00000356875:S340L;ENSP00000271452:S340L	ENSP00000271452:S340L	S	+	2	0	NUF2	161584247	0.907000	0.30839	0.866000	0.34008	0.995000	0.86356	1.953000	0.40352	2.854000	0.98071	0.655000	0.94253	TCG		0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
LMX1A	4009	broad.mit.edu	37	1	165173242	165173242	+	Missense_Mutation	SNP	C	C	T	rs538869163		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:165173242C>T	ENST00000342310.3	-	9	1406	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	LMX1A_ENST00000367893.4_Missense_Mutation_p.D342N|LMX1A_ENST00000294816.2_Missense_Mutation_p.D342N|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	342					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D342N(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGAGGTGTCGTCGCTATCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.001				p.D342N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	1						.						107.0	101.0	103.0					1																	165173242		2203	4300	6503	163439866	SO:0001583	missense	4009	exon9			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1024G>A	1.37:g.165173242C>T	ENSP00000340226:p.Asp342Asn	Somatic		Capture	Illumina HiSeq	Phase_I	163439866	NM_177398	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211282	0.95069	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.86497	-2.13;-2.13;-2.13	5.14	5.14	0.70334	.	0.117425	0.64402	D	0.000019	D	0.85583	0.5730	L	0.36672	1.1	0.37105	D	0.900091	D	0.76494	0.999	P	0.60886	0.88	T	0.81769	-0.0781	9	0.17369	T	0.5	.	18.3903	0.90481	0.0:1.0:0.0:0.0	.	342	Q8TE12	LMX1A_HUMAN	N	342	ENSP00000340226:D342N;ENSP00000294816:D342N;ENSP00000356868:D342N	ENSP00000294816:D342N	D	-	1	0	LMX1A	163439866	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.456000	0.60081	2.666000	0.90696	0.561000	0.74099	GAC		0.512	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398	
RXRG	6258	broad.mit.edu	37	1	165370521	165370521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:165370521C>A	ENST00000359842.5	-	10	1673	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	457	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E457D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GCAGCGGGGTCTCCAACATCT	0.602																																					p.E457D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1371T	1						.						91.0	88.0	89.0					1																	165370521		2203	4300	6503	163637145	SO:0001583	missense	6258	exon10			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1371G>T	1.37:g.165370521C>A	ENSP00000352900:p.Glu457Asp	Somatic		Capture	Illumina HiSeq	Phase_I	163637145	NM_006917	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222200	0.58560	.	.	ENSG00000143171	ENST00000359842	T	0.71934	-0.61	4.62	3.63	0.41609	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	L	0.58302	1.8	0.53688	D	0.999978	P	0.39831	0.69	P	0.59595	0.86	T	0.66948	-0.5794	9	0.36615	T	0.2	.	5.7732	0.18265	0.0:0.661:0.0:0.339	.	457	P48443	RXRG_HUMAN	D	457	ENSP00000352900:E457D	ENSP00000352900:E457D	E	-	3	2	RXRG	163637145	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.421000	0.21280	1.022000	0.39626	0.555000	0.69702	GAG		0.602	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
RXRG	6258	broad.mit.edu	37	1	165378812	165378812	+	Silent	SNP	G	G	A	rs138979533		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:165378812G>A	ENST00000359842.5	-	7	1331	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	343	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V343V(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGATGGAGCCGACCCCAGCAC	0.517																																					p.V343V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029T	1						.	G		0,4406		0,0,2203	91.0	74.0	80.0		1029	-9.0	0.1	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXRG	NM_006917.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		343/464	165378812	1,13005	2203	4300	6503	163645436	SO:0001819	synonymous_variant	6258	exon7			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1029C>T	1.37:g.165378812G>A		Somatic		Capture	Illumina HiSeq	Phase_I	163645436	NM_006917	A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	CCDS1248.1																																																																																				0.517	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
ALDH9A1	223	broad.mit.edu	37	1	165636650	165636650	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:165636650C>A	ENST00000354775.4	-	9	1549	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E321D	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	391					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.E391D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCCCAAAGATCTCTTCCTTCA	0.463																																					p.E415D	Ovarian(179;1583 2014 18106 33801 42447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1245T	1						.						127.0	117.0	121.0					1																	165636650		2203	4300	6503	163903274	SO:0001583	missense	223	exon9			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1245G>T	1.37:g.165636650C>A	ENSP00000346827:p.Glu415Asp	Somatic		Capture	Illumina HiSeq	Phase_I	163903274	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799335	0.70567	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	D;D	0.97642	-4.47;-4.47	5.45	3.6	0.41247	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.183072	0.56097	D	0.000021	D	0.98327	0.9445	H	0.98487	4.245	0.43408	D	0.995540	P;P;P	0.43662	0.814;0.561;0.71	P;B;P	0.54544	0.755;0.37;0.755	D	0.98991	1.0808	9	0.87932	D	0	.	8.5049	0.33181	0.0:0.7586:0.0:0.2414	.	405;391;415	B4DX14;P49189;B9EKV4	.;AL9A1_HUMAN;.	D	415;321	ENSP00000346827:E415D;ENSP00000440026:E321D	ENSP00000346827:E415D	E	-	3	2	ALDH9A1	163903274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.098000	0.41757	0.780000	0.33566	-0.205000	0.12727	GAG		0.463	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1		
DUSP27	92235	broad.mit.edu	37	1	167096354	167096354	+	Missense_Mutation	SNP	C	C	A	rs369410112		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167096354C>A	ENST00000361200.2	+	6	2152	c.1986C>A	c.(1984-1986)ttC>ttA	p.F662L	DUSP27_ENST00000443333.1_Missense_Mutation_p.F662L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.F662L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	662					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F662L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGTCTGCGTTCTGGTCTGCAG	0.632																																					p.F662L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1986A	1						.						46.0	42.0	44.0					1																	167096354		2203	4300	6503	165362978	SO:0001583	missense	92235	exon5			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1986C>A	1.37:g.167096354C>A	ENSP00000354483:p.Phe662Leu	Somatic		Capture	Illumina HiSeq	Phase_I	165362978	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425905	0.25726	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04809	3.55;3.55;3.55	5.1	3.17	0.36434	.	0.277746	0.28482	N	0.015185	T	0.02807	0.0084	M	0.71581	2.175	0.41244	D	0.986664	B	0.15141	0.012	B	0.12156	0.007	T	0.10567	-1.0624	10	0.87932	D	0	-19.1212	6.7785	0.23632	0.1492:0.7057:0.0:0.1451	.	662	Q5VZP5	DUS27_HUMAN	L	662	ENSP00000354483:F662L;ENSP00000271385:F662L;ENSP00000404874:F662L	ENSP00000271385:F662L	F	+	3	2	DUSP27	165362978	1.000000	0.71417	0.974000	0.42286	0.394000	0.30568	1.077000	0.30741	1.093000	0.41377	0.643000	0.83706	TTC		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
ADCY10	55811	broad.mit.edu	37	1	167778933	167778933	+	Silent	SNP	G	G	A	rs146952021		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167778933G>A	ENST00000367851.4	-	33	4999	c.4815C>T	c.(4813-4815)acC>acT	p.T1605T	ADCY10_ENST00000545172.1_Silent_p.T1452T|ADCY10_ENST00000367848.1_Silent_p.T1513T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1605					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.T1605T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATTGTCCACGGTATTAGCTC	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21020	0.0		0.0	False		,,,				2504	0.0				p.T1452T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4356T	1						.	G	,	8,4398	14.3+/-33.2	0,8,2195	133.0	127.0	129.0		4356,4815	1.3	0.8	1	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY10	NM_001167749.1,NM_018417.4	,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,	1452/1458,1605/1611	167778933	8,12998	2203	4300	6503	166045557	SO:0001819	synonymous_variant	55811	exon30			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4815C>T	1.37:g.167778933G>A		Somatic		Capture	Illumina HiSeq	Phase_I	166045557	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.383	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167779026	167779026	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167779026C>T	ENST00000367851.4	-	33	4906	c.4722G>A	c.(4720-4722)acG>acA	p.T1574T	ADCY10_ENST00000545172.1_Silent_p.T1421T|ADCY10_ENST00000367848.1_Silent_p.T1482T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1574					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.T1574T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GACTCAAGATCGTCTGAAGCC	0.393																																					p.T1421T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4263A	1						.						128.0	120.0	123.0					1																	167779026		2203	4300	6503	166045650	SO:0001819	synonymous_variant	55811	exon30			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4722G>A	1.37:g.167779026C>T		Somatic		Capture	Illumina HiSeq	Phase_I	166045650	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167798606	167798606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167798606G>A	ENST00000367851.4	-	26	3833	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C	ADCY10_ENST00000545172.1_Missense_Mutation_p.R1064C|ADCY10_ENST00000367848.1_Missense_Mutation_p.R1125C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1217					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.R1217C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTATAGATGCGCCACAGCAAG	0.413																																					p.R1064C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3190T	1						.						106.0	104.0	105.0					1																	167798606		2203	4300	6503	166065230	SO:0001583	missense	55811	exon23			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3649C>T	1.37:g.167798606G>A	ENSP00000356825:p.Arg1217Cys	Somatic		Capture	Illumina HiSeq	Phase_I	166065230	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830840	0.32329	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.30981	1.51;1.51;1.51	5.52	-0.548	0.11833	.	1.313460	0.05129	N	0.492213	T	0.23330	0.0564	L	0.44542	1.39	0.28942	N	0.89094	D;D	0.69078	0.997;0.995	P;B	0.50708	0.648;0.446	T	0.40590	-0.9555	9	0.87932	D	0	-1.2594	14.2607	0.66083	0.0:0.0:0.3218:0.6782	.	1125;1217	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1064;118;1217;1125	ENSP00000441992:R1064C;ENSP00000356825:R1217C;ENSP00000356822:R1125C	ENSP00000271426:R118C	R	-	1	0	ADCY10	166065230	0.573000	0.26676	0.095000	0.20976	0.081000	0.17604	0.529000	0.23019	0.021000	0.15133	0.643000	0.83706	CGC		0.413	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167802284	167802284	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167802284G>A	ENST00000367851.4	-	25	3718	c.3534C>T	c.(3532-3534)gtC>gtT	p.V1178V	ADCY10_ENST00000545172.1_Silent_p.V1025V|ADCY10_ENST00000367848.1_Silent_p.V1086V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1178					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.V1178V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGTTTTTCTCGACATGGATAT	0.483																																					p.V1025V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3075T	1						.						209.0	214.0	212.0					1																	167802284		2203	4300	6503	166068908	SO:0001819	synonymous_variant	55811	exon22			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3534C>T	1.37:g.167802284G>A		Somatic		Capture	Illumina HiSeq	Phase_I	166068908	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.483	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167815497	167815497	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167815497G>T	ENST00000367851.4	-	20	2626	c.2442C>A	c.(2440-2442)atC>atA	p.I814I	ADCY10_ENST00000545172.1_Silent_p.I661I|ADCY10_ENST00000367848.1_Silent_p.I722I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	814					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.I814I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGATCAGAGAGATTTCTGCAG	0.428																																					p.I661I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1983A	1						.						95.0	96.0	96.0					1																	167815497		2203	4300	6503	166082121	SO:0001819	synonymous_variant	55811	exon17			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2442C>A	1.37:g.167815497G>T		Somatic		Capture	Illumina HiSeq	Phase_I	166082121	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.428	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
GPR161	23432	broad.mit.edu	37	1	168073820	168073820	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:168073820C>T	ENST00000367838.1	-	4	582	c.269G>A	c.(268-270)cGc>cAc	p.R90H	GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000537209.1_Missense_Mutation_p.R110H|GPR161_ENST00000367835.1_Missense_Mutation_p.R90H|GPR161_ENST00000271357.5_Missense_Mutation_p.R90H|GPR161_ENST00000361697.2_Missense_Mutation_p.R90H|GPR161_ENST00000546300.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	90					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.R90H(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCATTCCCTGCGGATGGAGCT	0.552																																					p.R90H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	1						.						179.0	162.0	168.0					1																	168073820		2203	4300	6503	166340444	SO:0001583	missense	23432	exon4			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.269G>A	1.37:g.168073820C>T	ENSP00000356812:p.Arg90His	Somatic		Capture	Illumina HiSeq	Phase_I	166340444	NM_153832	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385353	0.25031	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367835;ENST00000537209;ENST00000361697	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.173117	0.48767	D	0.000180	T	0.13970	0.0338	L	0.28504	0.86	0.40999	D	0.984911	B;B;P;D	0.59357	0.195;0.232;0.945;0.985	B;B;P;P	0.48795	0.032;0.038;0.481;0.59	T	0.05649	-1.0872	9	0.21014	T	0.42	-8.5273	5.6848	0.17797	0.1587:0.6774:0.0:0.1639	.	110;110;90;90	F5GXD6;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;GP161_HUMAN	H	90;90;90;110;90	ENSP00000356812:R90H;ENSP00000271357:R90H;ENSP00000356809:R90H;ENSP00000441039:R110H;ENSP00000355194:R90H	ENSP00000271357:R90H	R	-	2	0	GPR161	166340444	0.952000	0.32445	0.401000	0.26359	0.819000	0.46315	1.281000	0.33214	1.197000	0.43143	0.561000	0.74099	CGC		0.552	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
TBX19	9095	broad.mit.edu	37	1	168260539	168260539	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:168260539G>T	ENST00000367821.3	+	2	396	c.345G>T	c.(343-345)gaG>gaT	p.E115D		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	115					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E115D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCAAGCCAGAGGTCTCCAGCC	0.587																																					p.E115D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G345T	1						.						76.0	81.0	79.0					1																	168260539		2203	4300	6503	166527163	SO:0001583	missense	9095	exon2			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.345G>T	1.37:g.168260539G>T	ENSP00000356795:p.Glu115Asp	Somatic		Capture	Illumina HiSeq	Phase_I	166527163	NM_005149	Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.243813|2.243813	0.39697|0.39697	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88586|.	-2.4|.	4.99|4.99	1.93|1.93	0.25924|0.25924	p53-like transcription factor, DNA-binding (1);|.	0.058126|.	0.64402|.	D|.	0.000003|.	T|T	0.22820|0.22820	0.0551|0.0551	L|L	0.31804|0.31804	0.96|0.96	0.46609|.	D|.	0.999125|.	D;P|.	0.63046|.	0.992;0.941|.	D;P|.	0.73708|.	0.981;0.901|.	T|T	0.06752|0.06752	-1.0809|-1.0809	9|4	0.13470|.	T|.	0.59|.	.|.	10.5398|10.5398	0.45026|0.45026	0.2493:0.0:0.7507:0.0|0.2493:0.0:0.7507:0.0	.|.	115;46|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	D|C	115;55|48	ENSP00000356795:E115D|.	ENSP00000356795:E115D|.	E|G	+|+	3|1	2|0	TBX19|TBX19	166527163|166527163	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.894000|0.894000	0.52154|0.52154	2.417000|2.417000	0.44653|0.44653	0.717000|0.717000	0.32145|0.32145	0.655000|0.655000	0.94253|0.94253	GAG|GGT		0.587	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149	
TBX19	9095	broad.mit.edu	37	1	168278110	168278110	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:168278110G>A	ENST00000367821.3	+	7	1098	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	349					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G349G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCAATCCAGGGCCCAGGTAAG	0.527																																					p.G349G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1047A	1						.						113.0	101.0	105.0					1																	168278110		2203	4300	6503	166544734	SO:0001819	synonymous_variant	9095	exon7			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1047G>A	1.37:g.168278110G>A		Somatic		Capture	Illumina HiSeq	Phase_I	166544734	NM_005149	Q52M53	Silent	SNP	ENST00000367821.3	37	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090609	0.01858	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.61	-1.01	0.10169	.	.	.	.	.	T	0.10252	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28364	-1.0046	3	.	.	.	.	2.1081	0.03696	0.2542:0.1003:0.4385:0.2071	.	.	.	.	T	219;182	.	.	A	+	1	0	TBX19	166544734	0.144000	0.22641	0.921000	0.36526	0.009000	0.06853	-0.858000	0.04281	-0.399000	0.07668	-2.527000	0.00183	GCC		0.527	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149	
ATP1B1	481	broad.mit.edu	37	1	169096486	169096486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169096486G>A	ENST00000367816.1	+	5	936	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	ATP1B1_ENST00000367815.4_Missense_Mutation_p.R136Q|ATP1B1_ENST00000499679.3_Missense_Mutation_p.R80Q|ATP1B1_ENST00000367813.3_Missense_Mutation_p.R128Q			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	136					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R136Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CCGAAAGAACGAGGAGACTTT	0.388																																					p.R136Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	1						.						97.0	94.0	95.0					1																	169096486		2203	4300	6503	167363110	SO:0001583	missense	481	exon4			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.407G>A	1.37:g.169096486G>A	ENSP00000356790:p.Arg136Gln	Somatic		Capture	Illumina HiSeq	Phase_I	167363110	NM_001677	Q5TGZ3	RNA	SNP	ENST00000367816.1	37	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135405	0.56828	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.02	6.02	0.97574	.	0.108661	0.64402	D	0.000012	T	0.48822	0.1521	M	0.85197	2.74	0.47659	D	0.999481	D	0.89917	1.0	D	0.97110	1.0	T	0.49862	-0.8894	9	0.07813	T	0.8	-7.7121	19.5289	0.95219	0.0:0.0:1.0:0.0	.	136	P05026	AT1B1_HUMAN	Q	136;136;80;128	ENSP00000356790:R136Q;ENSP00000356789:R136Q;ENSP00000423450:R80Q;ENSP00000356787:R128Q	ENSP00000356787:R128Q	R	+	2	0	ATP1B1	167363110	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	6.866000	0.75506	2.865000	0.98341	0.655000	0.94253	CGA		0.388	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1		
NME7	29922	broad.mit.edu	37	1	169267804	169267804	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169267804G>T	ENST00000367811.3	-	6	894	c.638C>A	c.(637-639)tCt>tAt	p.S213Y	NME7_ENST00000472647.1_Missense_Mutation_p.S177Y|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	213					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.S213Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTGGCCGCAGAAGCAAAAGA	0.408																																					p.S177Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530A	1						.						89.0	97.0	94.0					1																	169267804		2203	4300	6503	167534428	SO:0001583	missense	29922	exon6			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.638C>A	1.37:g.169267804G>T	ENSP00000356785:p.Ser213Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	167534428	NM_197972	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189229	0.78789	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.79554	-1.28;-1.28	5.74	3.87	0.44632	.	0.475392	0.25552	N	0.029886	D	0.91784	0.7401	H	0.96943	3.91	0.47153	D	0.999330	D;P	0.53151	0.958;0.821	D;P	0.65573	0.936;0.841	D	0.94486	0.7697	9	0.72032	D	0.01	-16.5951	18.1556	0.89689	0.0:0.146:0.854:0.0	.	217;213	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	Y	177;213	ENSP00000433341:S177Y;ENSP00000356785:S213Y	ENSP00000356785:S213Y	S	-	2	0	NME7	167534428	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	4.382000	0.59594	0.760000	0.33108	0.643000	0.83706	TCT		0.408	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
BLZF1	8548	broad.mit.edu	37	1	169349822	169349822	+	Missense_Mutation	SNP	C	C	T	rs138245508		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169349822C>T	ENST00000367808.3	+	5	1195	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	BLZF1_ENST00000329281.2_Missense_Mutation_p.R258C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	258					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.R258C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GGAACAGTTTCGTCAAGAAAT	0.408																																					p.R258C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772T	1						.	C	CYS/ARG	0,4406		0,0,2203	156.0	124.0	135.0		772	5.5	1.0	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	BLZF1	NM_003666.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	258/401	169349822	2,13004	2203	4300	6503	167616446	SO:0001583	missense	8548	exon5			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.772C>T	1.37:g.169349822C>T	ENSP00000356782:p.Arg258Cys	Somatic		Capture	Illumina HiSeq	Phase_I	167616446	NM_003666	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062362	0.93898	0.0	2.33E-4	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.37235	1.21;1.21	5.52	5.52	0.82312	.	0.291232	0.39615	N	0.001317	T	0.47154	0.1430	L	0.59436	1.845	0.40603	D	0.981600	D;D	0.89917	1.0;1.0	P;P	0.59288	0.855;0.855	T	0.47611	-0.9104	9	0.72032	D	0.01	-19.6694	19.4369	0.94799	0.0:1.0:0.0:0.0	.	258;258	A8K6R0;Q9H2G9	.;GO45_HUMAN	C	258	ENSP00000356782:R258C;ENSP00000327541:R258C	ENSP00000327541:R258C	R	+	1	0	BLZF1	167616446	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.465000	0.66725	2.583000	0.87209	0.637000	0.83480	CGT		0.408	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666	
F5	2153	broad.mit.edu	37	1	169521923	169521923	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169521923G>T	ENST00000367797.3	-	8	1369	c.1168C>A	c.(1168-1170)Cat>Aat	p.H390N	F5_ENST00000546081.1_Missense_Mutation_p.H253N|F5_ENST00000367796.3_Missense_Mutation_p.H390N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	390	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.H390N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCTTATAATGTTTTCCAATT	0.323																																					p.H390N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1168A	1						.						146.0	153.0	151.0					1																	169521923		2203	4300	6503	167788547	SO:0001583	missense	2153	exon8			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1168C>A	1.37:g.169521923G>T	ENSP00000356771:p.His390Asn	Somatic		Capture	Illumina HiSeq	Phase_I	167788547	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442505	0.25987	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98633	-5.04;-5.04;-5.04	5.95	0.598	0.17512	Cupredoxin (2);	0.757763	0.12936	N	0.426962	D	0.92743	0.7693	L	0.51422	1.61	0.24709	N	0.993211	B	0.21381	0.055	B	0.12837	0.008	D	0.85095	0.0954	9	0.46703	T	0.11	-0.0856	2.4022	0.04404	0.2014:0.0947:0.4897:0.2141	.	390	P12259	FA5_HUMAN	N	390;390;253	ENSP00000356771:H390N;ENSP00000356770:H390N;ENSP00000439664:H253N	ENSP00000356770:H390N	H	-	1	0	F5	167788547	0.998000	0.40836	0.188000	0.23233	0.778000	0.44026	1.820000	0.39032	0.118000	0.18165	0.655000	0.94253	CAT		0.323	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169555601	169555601	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169555601G>A	ENST00000367797.3	-	1	225	c.24C>T	c.(22-24)ctC>ctT	p.L8L	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Silent_p.L8L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	8					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L8L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAGGACCCAGAGGCGTGGGC	0.652																																					p.L8L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24T	1						.						51.0	41.0	45.0					1																	169555601		2203	4300	6503	167822225	SO:0001819	synonymous_variant	2153	exon1			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.24C>T	1.37:g.169555601G>A		Somatic		Capture	Illumina HiSeq	Phase_I	167822225	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				0.652	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	broad.mit.edu	37	1	169562858	169562858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169562858G>A	ENST00000263686.6	-	14	2429	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	SELP_ENST00000367786.2_Missense_Mutation_p.R736C|SELP_ENST00000367788.2_Missense_Mutation_p.R736C|SELP_ENST00000367794.2_Missense_Mutation_p.R736C|SELP_ENST00000367793.2_Missense_Mutation_p.R736C|SELP_ENST00000367791.2_Missense_Mutation_p.R612C|SELP_ENST00000367792.2_Missense_Mutation_p.R614C|SELP_ENST00000458599.2_Missense_Mutation_p.R614C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	798					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R798C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGTCTGAAACGCTTTCTTAGC	0.423																																					p.R798C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2392T	1						.						75.0	73.0	74.0					1																	169562858		2203	4300	6503	167829482	SO:0001583	missense	6403	exon14			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2392C>T	1.37:g.169562858G>A	ENSP00000263686:p.Arg798Cys	Somatic		Capture	Illumina HiSeq	Phase_I	167829482	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.389445|3.389445	0.61956|0.61956	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.30714	.|2.0;1.8;1.52;1.55;1.78;1.8;1.52	5.62|5.62	4.71|4.71	0.59529|0.59529	.|.	.|0.099958	.|0.45361	.|D	.|0.000367	T|T	0.37865|0.37865	0.1019|0.1019	M|M	0.66939|0.66939	2.045|2.045	0.23959|0.23959	N|N	0.996341|0.996341	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.992;0.991	T|T	0.29150|0.29150	-1.0021|-1.0021	5|10	.|0.66056	.|D	.|0.02	-17.064|-17.064	10.5602|10.5602	0.45142|0.45142	0.0885:0.0:0.9115:0.0|0.0885:0.0:0.9115:0.0	.|.	.|797;798	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	V|C	613|612;798;797;614;798;736;736;614;612;736;736;721	.|ENSP00000263686:R798C;ENSP00000356767:R736C;ENSP00000356768:R736C;ENSP00000356766:R614C;ENSP00000356765:R612C;ENSP00000356762:R736C;ENSP00000356760:R736C	.|ENSP00000263686:R798C	A|R	-|-	2|1	0|0	SELP|SELP	167829482|167829482	0.388000|0.388000	0.25197|0.25197	0.203000|0.203000	0.23512|0.23512	0.930000|0.930000	0.56654|0.56654	2.251000|2.251000	0.43187|0.43187	1.378000|1.378000	0.46305|0.46305	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.423	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
SELP	6403	broad.mit.edu	37	1	169586594	169586594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169586594G>T	ENST00000263686.6	-	3	190	c.153C>A	c.(151-153)taC>taA	p.Y51*	SELP_ENST00000367786.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000367788.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000367794.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000367793.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000367791.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Y51*|SELP_ENST00000458599.2_Nonsense_Mutation_p.Y51*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	51					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.Y51*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TATTCCATGAGTATGCTTTTG	0.418																																					p.Y51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C153A	1						.						128.0	112.0	118.0					1																	169586594		2203	4299	6502	167853218	SO:0001587	stop_gained	6403	exon3			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.153C>A	1.37:g.169586594G>T	ENSP00000263686:p.Tyr51*	Somatic		Capture	Illumina HiSeq	Phase_I	167853218	NM_003005	Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.061618|5.061618	0.93846|0.93846	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|.	.|.	.|.	5.9|5.9	1.34|1.34	0.21922|0.21922	.|.	.|0.000000	.|0.46758	.|D	.|0.000279	T|.	0.04407|.	0.0121|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38045|.	-0.9679|.	3|.	.|0.02654	.|T	.|1	-34.7518|-34.7518	5.2107|5.2107	0.15314|0.15314	0.332:0.0:0.5296:0.1384|0.332:0.0:0.5296:0.1384	.|.	.|.	.|.	.|.	I|X	51|51;51;50;51;51;51;51;51;51;51;51;51;36	.|.	.|ENSP00000263686:Y51X	L|Y	-|-	1|3	0|2	SELP|SELP	167853218|167853218	0.131000|0.131000	0.22433|0.22433	0.321000|0.321000	0.25320|0.25320	0.457000|0.457000	0.32468|0.32468	0.319000|0.319000	0.19522|0.19522	0.376000|0.376000	0.24707|0.24707	0.563000|0.563000	0.77884|0.77884	CTC|TAC		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
METTL18	92342	broad.mit.edu	37	1	169762173	169762173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169762173C>T	ENST00000310392.4	-	2	1017	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000413811.2_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.V222M|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	222						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.V222M(1)		kidney(1)|large_intestine(3)|lung(4)	8						TCATCAATCACCATACTGTTA	0.373																																					p.V222M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	1						.						137.0	145.0	142.0					1																	169762173		2203	4300	6503	168028797	SO:0001583	missense	92342	exon2			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.664G>A	1.37:g.169762173C>T	ENSP00000307975:p.Val222Met	Somatic		Capture	Illumina HiSeq	Phase_I	168028797	NM_033418	B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556139	0.86231	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.76578	-1.03;-1.03	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.76976	0.4063	N	0.13272	0.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81724	-0.0802	10	0.87932	D	0	-2.7774	18.9761	0.92736	0.0:1.0:0.0:0.0	.	222	O95568	MET18_HUMAN	M	222	ENSP00000307975:V222M;ENSP00000307077:V222M	ENSP00000307077:V222M	V	-	1	0	METTL18	168028797	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.777000	0.68931	2.824000	0.97209	0.655000	0.94253	GTG		0.373	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418	
SCYL3	57147	broad.mit.edu	37	1	169831766	169831766	+	Silent	SNP	G	G	T	rs61734335	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:169831766G>T	ENST00000367770.1	-	9	1175	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	SCYL3_ENST00000367771.6_Silent_p.V376V|SCYL3_ENST00000470238.1_5'UTR|RN7SL333P_ENST00000476398.2_RNA|SCYL3_ENST00000367772.4_Silent_p.V376V			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	376					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.V376V(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAAGATGACTTTCTTCA	0.493																																					p.V376V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1128A	1						.						227.0	223.0	225.0					1																	169831766		2203	4300	6503	168098390	SO:0001819	synonymous_variant	57147	exon10			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1128C>A	1.37:g.169831766G>T		Somatic		Capture	Illumina HiSeq	Phase_I	168098390	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	CCDS1287.1																																																																																				0.493	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
PRRX1	5396	broad.mit.edu	37	1	170695412	170695412	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:170695412C>A	ENST00000239461.6	+	3	782	c.469C>A	c.(469-471)Cta>Ata	p.L157I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.L157I|PRRX1_ENST00000367760.3_Missense_Mutation_p.L157I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	157					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.L157I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAGCCATGCTAGCCAATAA	0.517																																					p.L157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	1						.						79.0	73.0	75.0					1																	170695412		2203	4300	6503	168962036	SO:0001583	missense	5396	exon3			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.469C>A	1.37:g.170695412C>A	ENSP00000239461:p.Leu157Ile	Somatic		Capture	Illumina HiSeq	Phase_I	168962036	NM_006902	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453741	0.84209	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-1.95	5.63	4.72	0.59763	Homeodomain-like (1);	0.078751	0.53938	D	0.000049	D	0.94581	0.8254	M	0.66939	2.045	0.54753	D	0.999981	P;B	0.49961	0.93;0.435	P;B	0.51657	0.676;0.094	D	0.94293	0.7530	10	0.54805	T	0.06	.	13.0458	0.58925	0.0:0.9224:0.0:0.0776	.	157;157	P54821;P54821-2	PRRX1_HUMAN;.	I	157;157;157;2;2	ENSP00000356734:L157I;ENSP00000239461:L157I;ENSP00000450762:L157I;ENSP00000451225:L2I	ENSP00000239461:L157I	L	+	1	2	PRRX1	168962036	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.245000	0.78237	1.381000	0.46364	0.650000	0.86243	CTA		0.517	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	
MROH9	80133	broad.mit.edu	37	1	170931075	170931075	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:170931075G>A	ENST00000367758.3	+	6	432	c.333G>A	c.(331-333)acG>acA	p.T111T	MROH9_ENST00000367759.4_Silent_p.T111T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	111								p.T111T(1)									ACATTCTTACGAGCTTGGTGT	0.308																																					p.T111T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	1						.						38.0	37.0	37.0					1																	170931075		1797	4070	5867	169197699	SO:0001819	synonymous_variant	80133	exon6			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.333G>A	1.37:g.170931075G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169197699	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																				0.308	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
MROH9	80133	broad.mit.edu	37	1	170967383	170967383	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:170967383G>T	ENST00000367758.3	+	15	1663	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	MROH9_ENST00000367759.4_Missense_Mutation_p.D522Y	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	522								p.D522Y(1)									AAGGTCAGAAGACACTGTCAT	0.373																																					p.D522Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1564T	1						.						161.0	145.0	150.0					1																	170967383		1850	4082	5932	169234007	SO:0001583	missense	80133	exon15			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1564G>T	1.37:g.170967383G>T	ENSP00000356732:p.Asp522Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169234007	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.666944|2.666944	0.47677|0.47677	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.66638|.	-0.22;2.38|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.209202|.	0.32819|.	N|.	0.005612|.	T|T	0.61527|0.61527	0.2354|0.2354	L|L	0.60455|0.60455	1.87|1.87	0.41483|0.41483	D|D	0.988171|0.988171	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74348|.	0.983;0.983|.	T|T	0.61118|0.61118	-0.7127|-0.7127	10|5	0.66056|.	D|.	0.02|.	-9.4184|-9.4184	14.2112|14.2112	0.65767|0.65767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	522;522|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	Y|I	522|128	ENSP00000356733:D522Y;ENSP00000356732:D522Y|.	ENSP00000356732:D522Y|.	D|R	+|+	1|2	0|0	C1orf129|C1orf129	169234007|169234007	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.307000|0.307000	0.27823|0.27823	4.343000|4.343000	0.59348|0.59348	2.487000|2.487000	0.83934|0.83934	0.453000|0.453000	0.30009|0.30009	GAC|AGA		0.373	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
FMO2	2327	broad.mit.edu	37	1	171162634	171162634	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171162634T>G	ENST00000209929.7	+	3	451	c.293T>G	c.(292-294)tTt>tGt	p.F98C	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Missense_Mutation_p.F98C			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	98					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F98C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAAAAAATTTGATCTGCTA	0.328																																					p.F98C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T293G	1						.						32.0	34.0	33.0					1																	171162634		2202	4300	6502	169429258	SO:0001583	missense	2327	exon3			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.293T>G	1.37:g.171162634T>G	ENSP00000209929:p.Phe98Cys	Somatic		Capture	Illumina HiSeq	Phase_I	169429258	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.875454	0.72180	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.57752	0.38;0.38	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	H	0.97465	4.01	0.52099	D	0.999944	D	0.89917	1.0	D	0.81914	0.995	D	0.86892	0.2049	10	0.87932	D	0	-12.061	14.7699	0.69668	0.0:0.0:0.0:1.0	.	98	Q99518	FMO2_HUMAN	C	98	ENSP00000209929:F98C;ENSP00000405905:F98C	ENSP00000209929:F98C	F	+	2	0	FMO2	169429258	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	5.754000	0.68743	1.972000	0.57404	0.533000	0.62120	TTT		0.328	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
FMO2	2327	broad.mit.edu	37	1	171165903	171165903	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171165903G>A	ENST00000209929.7	+	4	595	c.437G>A	c.(436-438)tGc>tAc	p.C146Y	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.C146Y			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	146					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.C146Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTATGGTTTGCAGTGGCCAC	0.488																																					p.C146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	1						.						152.0	131.0	138.0					1																	171165903		2203	4300	6503	169432527	SO:0001583	missense	2327	exon4			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.437G>A	1.37:g.171165903G>A	ENSP00000209929:p.Cys146Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169432527	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146289	0.77888	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.60920	0.15;0.15	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	H	0.99299	4.505	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89623	0.3850	10	0.87932	D	0	-11.4591	13.3318	0.60492	0.0774:0.0:0.9226:0.0	.	146	Q99518	FMO2_HUMAN	Y	146	ENSP00000209929:C146Y;ENSP00000405905:C146Y	ENSP00000209929:C146Y	C	+	2	0	FMO2	169432527	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.791000	0.85805	1.361000	0.45981	0.655000	0.94253	TGC		0.488	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
PRRC2C	23215	broad.mit.edu	37	1	171510890	171510890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171510890C>T	ENST00000338920.4	+	16	4516	c.4279C>T	c.(4279-4281)Cga>Tga	p.R1427*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.R1429*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.R1429*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.R1427*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1427	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1429*(1)									GCGTCCTACTCGACCACCAAG	0.488																																					p.R1427X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4279T	1						.						60.0	49.0	53.0					1																	171510890		2203	4300	6503	169777514	SO:0001587	stop_gained	23215	exon16			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4279C>T	1.37:g.171510890C>T	ENSP00000343629:p.Arg1427*	Somatic		Capture	Illumina HiSeq	Phase_I	169777514	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	45	12.008545	0.99626	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.17	5.17	0.71159	.	0.000000	0.37623	N	0.002002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8013	0.69919	0.1447:0.8553:0.0:0.0	.	.	.	.	X	1429;1428;1427;1429;1427;1184	.	ENSP00000343629:R1427X	R	+	1	2	PRRC2C	169777514	0.956000	0.32656	0.997000	0.53966	0.918000	0.54935	1.138000	0.31491	2.552000	0.86080	0.650000	0.86243	CGA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
PRRC2C	23215	broad.mit.edu	37	1	171511038	171511038	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171511038C>T	ENST00000338920.4	+	16	4664	c.4427C>T	c.(4426-4428)tCc>tTc	p.S1476F	PRRC2C_ENST00000367742.3_Missense_Mutation_p.S1478F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1478F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1476F	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1476					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S1478F(1)									GGGGATATTTCCGGGAATAAG	0.423																																					p.S1476F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4427T	1						.						65.0	69.0	67.0					1																	171511038		2203	4300	6503	169777662	SO:0001583	missense	23215	exon16			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4427C>T	1.37:g.171511038C>T	ENSP00000343629:p.Ser1476Phe	Somatic		Capture	Illumina HiSeq	Phase_I	169777662	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.704975|1.704975	0.30232|0.30232	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02140	.|4.43;4.43;4.43;4.43	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.46145	.|D	.|0.000316	T|T	0.07143|0.07143	0.0181|0.0181	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.71674	.|0.998	.|D	.|0.64877	.|0.93	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.72032	.|D	.|0.01	.|.	19.7924|19.7924	0.96464|0.96464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1476	.|Q9Y520-4	.|.	S|F	24|1478;1477;1476;1478;1476;1233	.|ENSP00000375928:S1478F;ENSP00000410219:S1476F;ENSP00000356716:S1478F;ENSP00000343629:S1476F	.|ENSP00000343629:S1476F	P|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169777662|169777662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	6.728000|6.728000	0.74769|0.74769	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
PRRC2C	23215	broad.mit.edu	37	1	171553588	171553588	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171553588C>A	ENST00000338920.4	+	30	7903	c.7666C>A	c.(7666-7668)Ctt>Att	p.L2556I	PRRC2C_ENST00000367742.3_Missense_Mutation_p.L2558I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.L2558I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L2491I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2556	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L2558I(1)									GGCCTCAAATCTTTATTCTGG	0.373																																					p.L2556I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7666A	1						.						17.0	17.0	17.0					1																	171553588		2203	4299	6502	169820212	SO:0001583	missense	23215	exon30			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7666C>A	1.37:g.171553588C>A	ENSP00000343629:p.Leu2556Ile	Somatic		Capture	Illumina HiSeq	Phase_I	169820212	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902344	0.33628	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02525	4.26;4.27;4.26;4.26	5.63	4.66	0.58398	.	0.173721	0.27500	N	0.019096	T	0.00936	0.0031	N	0.22421	0.69	0.40741	D	0.982837	B;B	0.24043	0.003;0.096	B;B	0.22152	0.005;0.038	T	0.55360	-0.8153	10	0.25751	T	0.34	.	8.055	0.30600	0.2728:0.6537:0.0:0.0735	.	2491;2556	B7WNZ6;Q9Y520-4	.;.	I	2558;2510;2491;2558;2556;2313	ENSP00000375928:L2558I;ENSP00000410219:L2491I;ENSP00000356716:L2558I;ENSP00000343629:L2556I	ENSP00000343629:L2556I	L	+	1	0	PRRC2C	169820212	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.473000	0.22132	2.821000	0.97095	0.555000	0.69702	CTT		0.373	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
SLC9C2	284525	broad.mit.edu	37	1	173504989	173504989	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173504989C>A	ENST00000367714.3	-	15	2177	c.1755G>T	c.(1753-1755)aaG>aaT	p.K585N	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	585					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.K585N(1)									TAAAATGTATCTTTTCTATAC	0.259																																					p.K585N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1755T	1						.						34.0	41.0	38.0					1																	173504989		2154	4222	6376	171771612	SO:0001583	missense	284525	exon15			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1755G>T	1.37:g.173504989C>A	ENSP00000356687:p.Lys585Asn	Somatic		Capture	Illumina HiSeq	Phase_I	171771612	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284765	0.23392	.	.	ENSG00000162753	ENST00000367714	T	0.04917	3.53	5.81	-0.825	0.10809	.	0.497866	0.19983	N	0.101721	T	0.01765	0.0056	L	0.58101	1.795	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.41034	-0.9531	10	0.66056	D	0.02	-8.2115	1.0044	0.01484	0.2594:0.3885:0.1264:0.2257	.	585	Q5TAH2	S9A11_HUMAN	N	585	ENSP00000356687:K585N	ENSP00000356687:K585N	K	-	3	2	SLC9A11	171771612	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.143000	0.11334	-1.368000	0.01194	AAG		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173542456	173542456	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173542456C>T	ENST00000367714.3	-	9	1333	c.911G>A	c.(910-912)aGa>aAa	p.R304K	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R202K	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	304					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R304K(1)									TGAAAAAATTCTTAAGAACCT	0.274																																					p.R304K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911A	1						.						34.0	36.0	35.0					1																	173542456		2200	4290	6490	171809079	SO:0001583	missense	284525	exon9			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.911G>A	1.37:g.173542456C>T	ENSP00000356687:p.Arg304Lys	Somatic		Capture	Illumina HiSeq	Phase_I	171809079	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.008268	0.00426	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06068	3.35;3.35	5.17	0.0693	0.14373	Cation/H+ exchanger (1);	1.015930	0.07871	N	0.967997	T	0.00440	0.0014	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45469	-0.9259	10	0.09843	T	0.71	-0.8262	1.317	0.02109	0.4579:0.1646:0.087:0.2905	.	304	Q5TAH2	S9A11_HUMAN	K	304;202	ENSP00000356687:R304K;ENSP00000445437:R202K	ENSP00000356687:R304K	R	-	2	0	SLC9A11	171809079	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.416000	0.21198	-0.259000	0.09432	-0.262000	0.10625	AGA		0.274	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173556920	173556920	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173556920C>T	ENST00000367714.3	-	5	829	c.407G>A	c.(406-408)gGa>gAa	p.G136E	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.G34E	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	136					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G136E(1)									AACGACATATCCAATTATGAT	0.343																																					p.G136E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	1						.						97.0	99.0	98.0					1																	173556920		2203	4299	6502	171823543	SO:0001583	missense	284525	exon5			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.407G>A	1.37:g.173556920C>T	ENSP00000356687:p.Gly136Glu	Somatic		Capture	Illumina HiSeq	Phase_I	171823543	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597740	0.13875	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06294	3.32;3.32	5.59	1.27	0.21489	Cation/H+ exchanger (1);	0.687591	0.13194	N	0.406517	T	0.02267	0.0070	L	0.51422	1.61	0.09310	N	1	B	0.33477	0.413	B	0.36186	0.219	T	0.42932	-0.9422	10	0.56958	D	0.05	-2.2111	4.2411	0.10648	0.1462:0.4672:0.3024:0.0842	.	136	Q5TAH2	S9A11_HUMAN	E	136;34	ENSP00000356687:G136E;ENSP00000445437:G34E	ENSP00000356687:G136E	G	-	2	0	SLC9A11	171823543	0.996000	0.38824	0.017000	0.16124	0.005000	0.04900	1.003000	0.29809	0.266000	0.21894	-0.229000	0.12294	GGA		0.343	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
KLHL20	27252	broad.mit.edu	37	1	173754326	173754326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173754326C>T	ENST00000209884.4	+	12	1907	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	KLHL20_ENST00000546011.1_Missense_Mutation_p.R402W	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	591					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.R591W(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAATTACCGTCGGCTAGGGGG	0.363																																					p.R591W	GBM(159;862 2695 6559 23041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1771T	1						.						97.0	100.0	99.0					1																	173754326		2203	4300	6503	172020949	SO:0001583	missense	27252	exon12			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1771C>T	1.37:g.173754326C>T	ENSP00000209884:p.Arg591Trp	Somatic		Capture	Illumina HiSeq	Phase_I	172020949	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022802	0.75275	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.70631	-0.36;-0.5	6.06	6.06	0.98353	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90365	0.4376	10	0.87932	D	0	.	14.2723	0.66159	0.149:0.851:0.0:0.0	.	402;591	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	W	402;591	ENSP00000443121:R402W;ENSP00000209884:R591W	ENSP00000209884:R591W	R	+	1	2	KLHL20	172020949	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.549000	0.36212	2.880000	0.98712	0.650000	0.86243	CGG		0.363	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
SERPINC1	462	broad.mit.edu	37	1	173873190	173873190	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173873190C>A	ENST00000367698.3	-	7	1350	c.1232G>T	c.(1231-1233)gGc>gTc	p.G411V		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	411					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G411V(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TGCTTCACTGCCTTCTTCATT	0.463																																					p.G411V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232T	1						.						60.0	55.0	57.0					1																	173873190		2203	4300	6503	172139813	SO:0001583	missense	462	exon7			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1232G>T	1.37:g.173873190C>A	ENSP00000356671:p.Gly411Val	Somatic		Capture	Illumina HiSeq	Phase_I	172139813	NM_000488	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652049	0.88056	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.92595	-3.07	5.74	5.74	0.90152	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97204	0.9866	10	0.36615	T	0.2	.	19.5507	0.95319	0.0:1.0:0.0:0.0	.	411	P01008	ANT3_HUMAN	V	411;206	ENSP00000356671:G411V	ENSP00000307953:G206V	G	-	2	0	SERPINC1	172139813	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.138000	0.77305	2.712000	0.92718	0.650000	0.86243	GGC		0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488	
SERPINC1	462	broad.mit.edu	37	1	173884032	173884032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173884032G>A	ENST00000367698.3	-	2	185	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	23			L -> P (in AT3D; type-I; does not undergo post-translational glycosylation). {ECO:0000269|PubMed:9031473, ECO:0000269|PubMed:9845533}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L23F(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	AAGCCAATGAGCAGCAAGGAC	0.562											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L23F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	1						.						60.0	60.0	60.0					1																	173884032		2203	4300	6503	172150655	SO:0001583	missense	462	exon2			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.67C>T	1.37:g.173884032G>A	ENSP00000356671:p.Leu23Phe	Somatic	1911	Capture	Illumina HiSeq	Phase_I	172150655	NM_000488	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585184	0.66105	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.86497	-2.13	5.43	4.52	0.55395	.	0.469690	0.23391	N	0.048685	D	0.82646	0.5082	M	0.69823	2.125	0.40767	D	0.983059	P	0.41366	0.747	B	0.40782	0.34	D	0.85118	0.0967	10	0.72032	D	0.01	.	14.2267	0.65863	0.0717:0.0:0.9283:0.0	.	23	P01008	ANT3_HUMAN	F	23	ENSP00000356671:L23F	ENSP00000307953:L23F	L	-	1	0	SERPINC1	172150655	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	1.785000	0.38684	1.305000	0.44909	0.561000	0.74099	CTC		0.562	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488	
SDHB	6390	broad.mit.edu	37	1	17354296	17354296	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:17354296G>T	ENST00000375499.3	-	5	638	c.488C>A	c.(487-489)tCt>tAt	p.S163Y		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	163			S -> P (in CWS2; uncertain pathological significance; associated with increased manganese superoxide dismutase function and increased levels of reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression; dbSNP:rs33927012). {ECO:0000269|PubMed:18678321}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)	p.S163Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	GCCTTCCTGAGATTCATCCTT	0.388			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																												p.S163Y		yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C488A	1						.						160.0	149.0	153.0					1																	17354296		2203	4300	6503	17226883	SO:0001583	missense	6390	exon5	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.488C>A	1.37:g.17354296G>T	ENSP00000364649:p.Ser163Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	17226883	NM_003000	B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818591	0.71028	.	.	ENSG00000117118	ENST00000375499	D	0.96802	-4.13	5.89	5.89	0.94794	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.052959	0.85682	D	0.000000	D	0.95166	0.8433	L	0.59436	1.845	0.80722	D	1	B	0.26935	0.164	B	0.24269	0.052	D	0.92793	0.6250	10	0.72032	D	0.01	-24.4299	18.8118	0.92061	0.0:0.0:1.0:0.0	.	163	P21912	DHSB_HUMAN	Y	163	ENSP00000364649:S163Y	ENSP00000364649:S163Y	S	-	2	0	SDHB	17226883	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.340000	0.79292	2.790000	0.95986	0.655000	0.94253	TCT		0.388	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000	
RC3H1	149041	broad.mit.edu	37	1	173915735	173915735	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173915735G>T	ENST00000367696.2	-	17	3191	c.2840C>A	c.(2839-2841)tCt>tAt	p.S947Y	RC3H1_ENST00000258349.4_Missense_Mutation_p.S947Y|RC3H1_ENST00000367694.2_Missense_Mutation_p.S947Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	947					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S947Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCTGACATAGATATTCTCTC	0.378																																					p.S947Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2840A	1						.						114.0	104.0	107.0					1																	173915735		2203	4300	6503	172182358	SO:0001583	missense	149041	exon16			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2840C>A	1.37:g.173915735G>T	ENSP00000356669:p.Ser947Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	172182358	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796604	0.31777	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.46819	0.86;0.86;0.86	5.5	4.58	0.56647	.	0.974056	0.08483	N	0.939201	T	0.30727	0.0774	L	0.44542	1.39	0.45342	D	0.998334	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.0	T	0.12863	-1.0531	10	0.59425	D	0.04	-0.4172	16.5379	0.84377	0.0:0.1304:0.8696:0.0	.	947;947;947;947	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Y	947	ENSP00000356669:S947Y;ENSP00000258349:S947Y;ENSP00000356667:S947Y	ENSP00000258349:S947Y	S	-	2	0	RC3H1	172182358	1.000000	0.71417	0.155000	0.22561	0.863000	0.49368	4.982000	0.63825	1.300000	0.44818	0.655000	0.94253	TCT		0.378	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
CACYBP	27101	broad.mit.edu	37	1	174973793	174973793	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:174973793C>T	ENST00000367679.2	+	2	507	c.59C>T	c.(58-60)gCt>gTt	p.A20V	CACYBP_ENST00000406752.1_Missense_Mutation_p.A20V|CACYBP_ENST00000367681.2_5'UTR|CACYBP_ENST00000405362.1_5'UTR	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	20	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A20V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CTGGAAAAGGCTACTAGGAAA	0.363																																					p.A20V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	1						.						80.0	72.0	75.0					1																	174973793		2203	4300	6503	173240416	SO:0001583	missense	27101	exon2			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.59C>T	1.37:g.174973793C>T	ENSP00000356652:p.Ala20Val	Somatic		Capture	Illumina HiSeq	Phase_I	173240416	NM_014412	B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180632	0.57800	.	.	ENSG00000116161	ENST00000426793;ENST00000367679;ENST00000406752	.	.	.	6.17	5.26	0.73747	Siah interacting protein, N-terminal (1);	0.475943	0.24774	N	0.035702	T	0.43942	0.1270	L	0.41492	1.28	0.54753	D	0.999983	P;B	0.38617	0.64;0.001	B;B	0.38296	0.27;0.014	T	0.33523	-0.9865	9	0.41790	T	0.15	0.0264	11.3144	0.49383	0.0:0.804:0.1283:0.0676	.	20;20	B4DFD3;Q9HB71	.;CYBP_HUMAN	V	20	.	ENSP00000356652:A20V	A	+	2	0	CACYBP	173240416	0.054000	0.20591	0.574000	0.28523	0.922000	0.55478	1.799000	0.38824	2.941000	0.99782	0.655000	0.94253	GCT		0.363	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412	
MRPS14	63931	broad.mit.edu	37	1	174983883	174983883	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:174983883G>T	ENST00000476371.1	-	3	325	c.309C>A	c.(307-309)cgC>cgA	p.R103R	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.R103R(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TAAGCCTCCAGCGCCGCTTCA	0.532																																					p.R103R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309A	1						.						138.0	130.0	133.0					1																	174983883		2203	4300	6503	173250506	SO:0001819	synonymous_variant	63931	exon3			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.309C>A	1.37:g.174983883G>T		Somatic		Capture	Illumina HiSeq	Phase_I	173250506	NM_022100		Silent	SNP	ENST00000476371.1	37	CCDS1316.1																																																																																				0.532	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100	
TNN	63923	broad.mit.edu	37	1	175046902	175046902	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:175046902G>T	ENST00000239462.4	+	2	461	c.348G>T	c.(346-348)gaG>gaT	p.E116D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	116					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.E116D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGCTGGAGGAAGAGATGG	0.552																																					p.E116D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	1						.						56.0	59.0	58.0					1																	175046902		2203	4300	6503	173313525	SO:0001583	missense	63923	exon2			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.348G>T	1.37:g.175046902G>T	ENSP00000239462:p.Glu116Asp	Somatic		Capture	Illumina HiSeq	Phase_I	173313525	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904367	0.72868	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.48522	0.81	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.71871	2.18	0.38983	D	0.958996	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.66650	-0.5870	10	0.44086	T	0.13	.	10.2485	0.43356	0.1517:0.0:0.8483:0.0	.	116;116	B3KXB6;Q9UQP3	.;TENN_HUMAN	D	116	ENSP00000239462:E116D	ENSP00000239462:E116D	E	+	3	2	TNN	173313525	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.589000	0.53972	1.347000	0.45714	0.655000	0.94253	GAG		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu	37	1	175049509	175049509	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:175049509G>A	ENST00000239462.4	+	4	1108	c.995G>A	c.(994-996)cGt>cAt	p.R332H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	332	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R332H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCACCCTGCGTAACGTCAAG	0.547																																					p.R332H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995A	1						.						126.0	121.0	123.0					1																	175049509		2203	4300	6503	173316132	SO:0001583	missense	63923	exon4			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.995G>A	1.37:g.175049509G>A	ENSP00000239462:p.Arg332His	Somatic		Capture	Illumina HiSeq	Phase_I	173316132	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302958	0.23736	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58358	0.34	5.7	3.84	0.44239	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.448168	0.27604	N	0.018629	T	0.42899	0.1223	L	0.47190	1.495	0.27170	N	0.960936	B;B	0.33940	0.134;0.433	B;B	0.33690	0.041;0.168	T	0.31475	-0.9942	10	0.37606	T	0.19	.	8.4924	0.33108	0.2977:0.0:0.7023:0.0	.	332;332	B3KXB6;Q9UQP3	.;TENN_HUMAN	H	332	ENSP00000239462:R332H	ENSP00000239462:R332H	R	+	2	0	TNN	173316132	0.995000	0.38212	0.991000	0.47740	0.812000	0.45895	1.382000	0.34374	0.765000	0.33221	0.655000	0.94253	CGT		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
PAPPA2	60676	broad.mit.edu	37	1	176671780	176671780	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:176671780C>A	ENST00000367662.3	+	9	4438	c.3274C>A	c.(3274-3276)Cta>Ata	p.L1092I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1092					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1092I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACCAAGTTCTAGCTGAAGC	0.507																																					p.L1092I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3274A	1						.						94.0	90.0	91.0					1																	176671780		1951	4141	6092	174938403	SO:0001583	missense	60676	exon9			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3274C>A	1.37:g.176671780C>A	ENSP00000356634:p.Leu1092Ile	Somatic		Capture	Illumina HiSeq	Phase_I	174938403	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	8.497	0.863276	0.17250	.	.	ENSG00000116183	ENST00000367662	T	0.42131	0.98	5.26	5.26	0.73747	Fibronectin, type III (2);	0.055735	0.64402	D	0.000001	T	0.23886	0.0578	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12218	-1.0556	10	0.07030	T	0.85	-4.7883	18.4543	0.90714	0.0:1.0:0.0:0.0	.	1092	Q9BXP8	PAPP2_HUMAN	I	1092	ENSP00000356634:L1092I	ENSP00000356634:L1092I	L	+	1	2	PAPPA2	174938403	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	6.953000	0.75995	2.444000	0.82710	0.563000	0.77884	CTA		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	broad.mit.edu	37	1	176811590	176811590	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:176811590A>G	ENST00000367662.3	+	23	6540	c.5376A>G	c.(5374-5376)taA>taG	p.*1792*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	0					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.*1792*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAAATCAGTAACTGTGGGAAC	0.507																																					p.X1792X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5376G	1						.						69.0	69.0	69.0					1																	176811590		1888	4114	6002	175078213	SO:0001819	synonymous_variant	60676	exon23			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5376A>G	1.37:g.176811590A>G		Somatic		Capture	Illumina HiSeq	Phase_I	175078213	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ASTN1	460	broad.mit.edu	37	1	176926921	176926921	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:176926921G>A	ENST00000367654.3	-	11	2015	c.1804C>T	c.(1804-1806)Ctc>Ttc	p.L602F	ASTN1_ENST00000367657.3_Missense_Mutation_p.L594F|ASTN1_ENST00000361833.2_Missense_Mutation_p.L594F|ASTN1_ENST00000424564.2_Missense_Mutation_p.L594F|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	602					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.L594F(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAATCTAAGAGAACCTCCAGG	0.532																																					p.L594F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1780T	1						.						59.0	54.0	56.0					1																	176926921		2203	4300	6503	175193544	SO:0001583	missense	460	exon11			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1804C>T	1.37:g.176926921G>A	ENSP00000356626:p.Leu602Phe	Somatic		Capture	Illumina HiSeq	Phase_I	175193544	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.377343	0.82682	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.02	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.20986	0.625	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.85130	0.997;0.991;0.991	T	0.04811	-1.0925	10	0.33940	T	0.23	-26.1925	19.1684	0.93567	0.0:0.0:1.0:0.0	.	602;594;594	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	F	594;594;602;594;594	ENSP00000356629:L594F;ENSP00000354536:L594F;ENSP00000356626:L602F;ENSP00000395041:L594F	ENSP00000354536:L594F	L	-	1	0	ASTN1	175193544	1.000000	0.71417	0.442000	0.26870	0.842000	0.47809	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	CTC		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ASTN1	460	broad.mit.edu	37	1	177133558	177133558	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:177133558C>A	ENST00000367654.3	-	1	466	c.255G>T	c.(253-255)gaG>gaT	p.E85D	ASTN1_ENST00000367657.3_Missense_Mutation_p.E85D|ASTN1_ENST00000361833.2_Missense_Mutation_p.E85D|ASTN1_ENST00000424564.2_Missense_Mutation_p.E85D|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	85					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E85D(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTCCGTGTTCTCCAGGTCGT	0.687																																					p.E85D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G255T	1						.						46.0	39.0	41.0					1																	177133558		2203	4300	6503	175400181	SO:0001583	missense	460	exon1			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.255G>T	1.37:g.177133558C>A	ENSP00000356626:p.Glu85Asp	Somatic		Capture	Illumina HiSeq	Phase_I	175400181	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	12.68	2.012102	0.35511	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14144	2.53;2.95;2.95;2.54	3.04	2.06	0.26882	.	0.439260	0.19998	N	0.101401	T	0.18800	0.0451	L	0.31664	0.95	0.51233	D	0.999917	D;D;P	0.61697	0.99;0.99;0.949	D;D;P	0.70935	0.971;0.971;0.549	T	0.06092	-1.0846	10	0.14252	T	0.57	-19.1576	9.1561	0.36994	0.0:0.8796:0.0:0.1204	.	85;85;85	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	D	85	ENSP00000356629:E85D;ENSP00000354536:E85D;ENSP00000356626:E85D;ENSP00000395041:E85D	ENSP00000354536:E85D	E	-	3	2	ASTN1	175400181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.473000	0.35387	0.555000	0.29079	0.385000	0.25706	GAG		0.687	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
PADI6	353238	broad.mit.edu	37	1	17715015	17715015	+	RNA	SNP	C	C	A	rs200922673		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:17715015C>A	ENST00000434762.2	+	0	869							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.I273I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGGCCTCATCTCCTACTCTG	0.537																																					p.I273I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819A	1						.						45.0	43.0	43.0					1																	17715015		1925	4145	6070	17587602			353238	exon7			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17715015C>A		Somatic		Capture	Illumina HiSeq	Phase_I	17587602	NM_207421	Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37																																																																																					0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
BRINP2	57795	broad.mit.edu	37	1	177225194	177225194	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:177225194A>C	ENST00000361539.4	+	3	721	c.409A>C	c.(409-411)Aat>Cat	p.N137H		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	137	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.N137H(1)									GGTTACAGAAAATCTGATTAA	0.453											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N137H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A409C	1						.						79.0	74.0	76.0					1																	177225194		2203	4300	6503	175491817	SO:0001583	missense	57795	exon3				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.409A>C	1.37:g.177225194A>C	ENSP00000354481:p.Asn137His	Somatic	1937	Capture	Illumina HiSeq	Phase_I	175491817	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837999	0.91117	.	.	ENSG00000198797	ENST00000361539	D	0.84370	-1.84	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.053759	0.64402	D	0.000001	D	0.90038	0.6889	M	0.65975	2.015	0.53005	D	0.99996	D	0.56287	0.975	P	0.58780	0.845	D	0.91044	0.4873	10	0.72032	D	0.01	-28.9001	15.524	0.75887	1.0:0.0:0.0:0.0	.	137	Q9C0B6	FAM5B_HUMAN	H	137	ENSP00000354481:N137H	ENSP00000354481:N137H	N	+	1	0	FAM5B	175491817	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.210000	0.95106	2.135000	0.66039	0.528000	0.53228	AAT		0.453	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
SEC16B	89866	broad.mit.edu	37	1	177917029	177917029	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:177917029T>A	ENST00000308284.6	-	13	1683	c.1594A>T	c.(1594-1596)Att>Ttt	p.I532F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.I533F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	532					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.I533F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTCGACAGAATCACAGCCAAG	0.512																																					p.I532F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1594T	1						.						44.0	49.0	47.0					1																	177917029		1982	4114	6096	176183652	SO:0001583	missense	89866	exon13			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1594A>T	1.37:g.177917029T>A	ENSP00000308339:p.Ile532Phe	Somatic		Capture	Illumina HiSeq	Phase_I	176183652	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.935813|3.935813	0.73442|0.73442	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000527976|ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631	.|T;T	.|0.59502	.|2.0;0.26	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.243755	.|0.35970	.|N	.|0.002870	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.75615|0.75615	2.305|2.305	0.42809|0.42809	D|D	0.993953|0.993953	.|D;D;D;D;D	.|0.71674	.|0.996;0.984;0.998;0.996;0.996	.|D;P;D;D;D	.|0.72625	.|0.978;0.903;0.945;0.958;0.945	T|T	0.77086|0.77086	-0.2718|-0.2718	5|10	.|0.62326	.|D	.|0.03	-7.901|-7.901	12.1119|12.1119	0.53844|0.53844	0.0:0.0:0.143:0.857|0.0:0.0:0.143:0.857	.|.	.|87;533;533;532;229	.|B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0	.|.;.;.;SC16B_HUMAN;.	V|F	115|532;216;247;533	.|ENSP00000308339:I532F;ENSP00000431727:I533F	.|ENSP00000239472:I247F	D|I	-|-	2|1	0|0	AL359075.1|AL359075.1	176183652|176183652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	2.685000|2.685000	0.46959|0.46959	2.088000|2.088000	0.63022|0.63022	0.455000|0.455000	0.32223|0.32223	GAT|ATT		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
RASAL2	9462	broad.mit.edu	37	1	178414779	178414779	+	Missense_Mutation	SNP	T	T	A	rs369595230		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:178414779T>A	ENST00000462775.1	+	7	1290	c.1165T>A	c.(1165-1167)Tat>Aat	p.Y389N	RASAL2_ENST00000448150.3_Missense_Mutation_p.Y519N|RASAL2_ENST00000367649.3_Missense_Mutation_p.Y537N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	389	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.Y519N(1)|p.Y537N(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGACAACAGTATCTTCATGA	0.403																																					p.Y389N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1165A	1						.						112.0	91.0	98.0					1																	178414779		2203	4300	6503	176681402	SO:0001583	missense	9462	exon7			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1165T>A	1.37:g.178414779T>A	ENSP00000420558:p.Tyr389Asn	Somatic		Capture	Illumina HiSeq	Phase_I	176681402	NM_004841	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402681	0.83230	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.87887	-2.31;1.46;-2.31	5.28	5.28	0.74379	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.140544	0.49305	D	0.000159	D	0.95762	0.8621	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97258	0.9902	10	0.87932	D	0	.	15.2195	0.73299	0.0:0.0:0.0:1.0	.	389;537	Q9UJF2;F8W755	NGAP_HUMAN;.	N	519;537;389	ENSP00000407768:Y519N;ENSP00000356621:Y537N;ENSP00000420558:Y389N	ENSP00000356621:Y537N	Y	+	1	0	RASAL2	176681402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.867000	0.87062	1.996000	0.58369	0.533000	0.62120	TAT		0.403	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
TEX35	84066	broad.mit.edu	37	1	178490396	178490396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:178490396C>T	ENST00000319416.2	+	8	695	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	TEX35_ENST00000367639.1_Missense_Mutation_p.R203W|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Missense_Mutation_p.R119W|TEX35_ENST00000367643.3_Missense_Mutation_p.R195W	NM_032126.4	NP_115502.2			testis expressed 35									p.R195W(1)									CAACTACAATCGGGGTAGGTA	0.498																																					p.R195W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	1						.						235.0	226.0	229.0					1																	178490396		2203	4300	6503	176757019	SO:0001583	missense	84066	exon8			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.583C>T	1.37:g.178490396C>T	ENSP00000323795:p.Arg195Trp	Somatic		Capture	Illumina HiSeq	Phase_I	176757019	NM_001170723		Missense_Mutation	SNP	ENST00000319416.2	37	CCDS1323.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.99|11.99	1.803142|1.803142	0.31869|0.31869	.|.	.|.	ENSG00000240021|ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367639|ENST00000442872	T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99|.	5.06|5.06	3.02|3.02	0.34903|0.34903	.|.	1.008400|.	0.07983|.	N|.	0.985895|.	T|T	0.26048|0.26048	0.0635|0.0635	N|N	0.14661|0.14661	0.345|0.345	0.21915|0.21915	N|N	0.999478|0.999478	D;D|.	0.76494|.	0.998;0.999|.	P;D|.	0.66196|.	0.903;0.942|.	T|T	0.20874|0.20874	-1.0262|-1.0262	10|6	0.87932|0.87932	D|D	0|0	-0.0322|-0.0322	8.6472|8.6472	0.34013|0.34013	0.1699:0.6652:0.165:0.0|0.1699:0.6652:0.165:0.0	.|.	203;195|.	Q5T0J7-2;Q5T0J7|.	.;CA049_HUMAN|.	W|L	195;119;195;203|29	ENSP00000323795:R195W;ENSP00000258298:R119W;ENSP00000356615:R195W;ENSP00000356611:R203W|.	ENSP00000258298:R119W|ENSP00000413991:S29L	R|S	+|+	1|2	2|0	C1orf49|C1orf49	176757019|176757019	0.855000|0.855000	0.29742|0.29742	0.996000|0.996000	0.52242|0.52242	0.903000|0.903000	0.53119|0.53119	0.306000|0.306000	0.19279|0.19279	1.225000|1.225000	0.43566|0.43566	0.536000|0.536000	0.68110|0.68110	CGG|TCG		0.498	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126	
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333																																					p.S546L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1637T	1						.						82.0	81.0	81.0					1																	178875917		2203	4300	6503	177142540	SO:0001583	missense	55103	exon19			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1637C>T	1.37:g.178875917C>T	ENSP00000356607:p.Ser546Leu	Somatic		Capture	Illumina HiSeq	Phase_I	177142540	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157374|4.157374	0.78114|0.78114	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.79352	.|-1.26;-1.26;-1.26	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069958	.|0.64402	.|D	.|0.000015	T|T	0.74245|0.74245	0.3691|0.3691	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24132	.|0.049;0.098	.|B;B	.|0.26517	.|0.02;0.07	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.41790	.|T	.|0.15	.|.	20.2585|20.2585	0.98435|0.98435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|520;546	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	C|L	137|546;520;511;195	.|ENSP00000356607:S546L;ENSP00000356606:S520L;ENSP00000313613:S511L	.|ENSP00000313613:S511L	R|S	+|+	1|2	0|0	RALGPS2|RALGPS2	177142540|177142540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.276000|7.276000	0.78559|0.78559	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	
AXDND1	126859	broad.mit.edu	37	1	179503004	179503004	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:179503004G>T	ENST00000367618.3	+	24	3177	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	930	Glu-rich.							p.E930D(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATGCAGGAGAAGTTACTGT	0.403																																					p.E930D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2790T	1						.						136.0	125.0	129.0					1																	179503004		2203	4300	6503	177769627	SO:0001583	missense	126859	exon24			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2790G>T	1.37:g.179503004G>T	ENSP00000356590:p.Glu930Asp	Somatic		Capture	Illumina HiSeq	Phase_I	177769627	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	3.110	-0.182758	0.06340	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.26223	1.75;1.75	4.5	0.211	0.15236	.	0.687725	0.13486	N	0.384326	T	0.12944	0.0314	L	0.27053	0.805	0.38036	D	0.935301	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20638	-1.0269	10	0.18276	T	0.48	-0.6102	3.1584	0.06512	0.0937:0.3066:0.4191:0.1806	.	814;930	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	D	930;814;790	ENSP00000356590:E930D;ENSP00000391716:E790D	ENSP00000353471:E814D	E	+	3	2	AXDND1	177769627	0.005000	0.15991	0.828000	0.32881	0.294000	0.27393	-0.121000	0.10643	-0.044000	0.13491	-0.976000	0.02587	GAG		0.403	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
AXDND1	126859	broad.mit.edu	37	1	179503919	179503919	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:179503919G>T	ENST00000367618.3	+	25	3240	c.2853G>T	c.(2851-2853)gaG>gaT	p.E951D		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	951	Glu-rich.							p.E951D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATGCATATGAGAAACTTCATC	0.353																																					p.E951D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2853T	1						.						69.0	71.0	70.0					1																	179503919		2203	4299	6502	177770542	SO:0001583	missense	126859	exon25			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2853G>T	1.37:g.179503919G>T	ENSP00000356590:p.Glu951Asp	Somatic		Capture	Illumina HiSeq	Phase_I	177770542	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585039	0.66105	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.32272	1.82;1.46	4.89	-0.541	0.11858	.	0.074572	0.51477	D	0.000096	T	0.35595	0.0937	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.03933	-1.0991	10	0.30854	T	0.27	-2.3564	8.4719	0.32991	0.4321:0.0:0.5679:0.0	.	835;951	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	D	951;835;811	ENSP00000356590:E951D;ENSP00000391716:E811D	ENSP00000353471:E835D	E	+	3	2	AXDND1	177770542	0.143000	0.22626	0.581000	0.28614	0.929000	0.56500	0.136000	0.15974	-0.167000	0.10871	0.591000	0.81541	GAG		0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
TDRD5	163589	broad.mit.edu	37	1	179620011	179620011	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:179620011A>G	ENST00000367614.1	+	12	2169	c.1810A>G	c.(1810-1812)Aca>Gca	p.T604A	TDRD5_ENST00000444136.1_Missense_Mutation_p.T604A|TDRD5_ENST00000294848.8_Missense_Mutation_p.T604A	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	604					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.T604A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGAACACTGGACATCGAAAGC	0.353																																					p.T159A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A475G	1						.						154.0	145.0	148.0					1																	179620011		2203	4300	6503	177886634	SO:0001583	missense	163589	exon9			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1810A>G	1.37:g.179620011A>G	ENSP00000356586:p.Thr604Ala	Somatic		Capture	Illumina HiSeq	Phase_I	177886634	NM_001199092	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388904	0.82902	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34859	2.6;2.6;2.77;1.34	5.81	5.81	0.92471	.	0.055987	0.64402	D	0.000001	T	0.54431	0.1858	L	0.60455	1.87	0.42735	D	0.993728	D;D	0.71674	0.998;0.997	D;P	0.66847	0.947;0.886	T	0.56691	-0.7937	10	0.59425	D	0.04	-15.8403	13.5505	0.61730	1.0:0.0:0.0:0.0	.	604;604	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	A	604;604;604;60	ENSP00000356586:T604A;ENSP00000294848:T604A;ENSP00000406052:T604A;ENSP00000410744:T60A	ENSP00000294848:T604A	T	+	1	0	TDRD5	177886634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.958000	0.56737	2.217000	0.71921	0.482000	0.46254	ACA		0.353	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
CEP350	9857	broad.mit.edu	37	1	180063226	180063226	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180063226T>G	ENST00000367607.3	+	34	8404	c.7986T>G	c.(7984-7986)tcT>tcG	p.S2662S	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2662					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2662S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CACAGATTTCTTCAAAGGAAA	0.408																																					p.S2662S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T7986G	1						.						42.0	43.0	42.0					1																	180063226		2203	4300	6503	178329849	SO:0001819	synonymous_variant	9857	exon34			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7986T>G	1.37:g.180063226T>G		Somatic		Capture	Illumina HiSeq	Phase_I	178329849	NM_014810	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	T	5.697	0.313138	0.10789	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.51	0.565	0.17309	.	.	.	.	.	T	0.41465	0.1160	.	.	.	0.31109	N	0.710231	.	.	.	.	.	.	T	0.46952	-0.9154	4	.	.	.	.	9.2673	0.37650	0.0:0.306:0.0:0.694	.	.	.	.	V	837	.	.	F	+	1	0	CEP350	178329849	0.028000	0.19301	0.974000	0.42286	0.957000	0.61999	0.096000	0.15147	0.346000	0.23899	0.482000	0.46254	TTC		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
QSOX1	5768	broad.mit.edu	37	1	180147956	180147956	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180147956G>A	ENST00000367602.3	+	5	617	c.543G>A	c.(541-543)gcG>gcA	p.A181A	QSOX1_ENST00000367600.5_Silent_p.A181A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	181					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.A181A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATTCTTTGCGAGAAATAACG	0.502											OREG0014018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A181A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G543A	1						.						152.0	154.0	153.0					1																	180147956		2203	4300	6503	178414579	SO:0001819	synonymous_variant	5768	exon5			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.543G>A	1.37:g.180147956G>A		Somatic	1959	Capture	Illumina HiSeq	Phase_I	178414579	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.502	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
QSOX1	5768	broad.mit.edu	37	1	180155194	180155194	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180155194G>T	ENST00000367602.3	+	8	968	c.894G>T	c.(892-894)aaG>aaT	p.K298N	QSOX1_ENST00000367600.5_Missense_Mutation_p.K298N			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	298					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.K298N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCTCCAAGATCTACATGG	0.552																																					p.K298N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G894T	1						.						111.0	106.0	108.0					1																	180155194		2203	4300	6503	178421817	SO:0001583	missense	5768	exon8			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.894G>T	1.37:g.180155194G>T	ENSP00000356574:p.Lys298Asn	Somatic		Capture	Illumina HiSeq	Phase_I	178421817	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113122	0.77210	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.18657	3.42;2.2	5.49	5.49	0.81192	.	0.091731	0.64402	D	0.000001	T	0.49508	0.1561	M	0.88377	2.95	0.43719	D	0.99619	D;D;D	0.76494	0.999;0.995;0.999	P;P;D	0.66847	0.886;0.905;0.947	T	0.55477	-0.8135	10	0.59425	D	0.04	-25.8603	11.6148	0.51083	0.0825:0.0:0.9175:0.0	.	298;298;298	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	N	298	ENSP00000356574:K298N;ENSP00000356572:K298N	ENSP00000356572:K298N	K	+	3	2	QSOX1	178421817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.338000	0.43957	2.575000	0.86900	0.561000	0.74099	AAG		0.552	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
XPR1	9213	broad.mit.edu	37	1	180804014	180804014	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180804014G>A	ENST00000367590.4	+	10	1337	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	XPR1_ENST00000367589.3_Missense_Mutation_p.R380Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	380					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R380Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TTTCAGTTTCGAGTATTTACA	0.393																																					p.R380Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1139A	1						.						53.0	54.0	54.0					1																	180804014		2203	4300	6503	179070637	SO:0001583	missense	9213	exon10			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1139G>A	1.37:g.180804014G>A	ENSP00000356562:p.Arg380Gln	Somatic		Capture	Illumina HiSeq	Phase_I	179070637	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039271	0.93630	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.56776	0.44;0.44	4.88	4.88	0.63580	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.86967	0.2095	10	0.87932	D	0	-3.0101	17.633	0.88114	0.0:0.0:1.0:0.0	.	380;380	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	Q	380	ENSP00000356562:R380Q;ENSP00000356561:R380Q	ENSP00000356561:R380Q	R	+	2	0	XPR1	179070637	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.697000	0.98697	2.241000	0.73720	0.557000	0.71058	CGA		0.393	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180805753	180805753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180805753C>T	ENST00000367590.4	+	11	1600	c.1402C>T	c.(1402-1404)Cga>Tga	p.R468*	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	468	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R468*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCGCCGATATCGAGACACAAA	0.468																																					p.R468X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1402T	1						.						142.0	134.0	137.0					1																	180805753		2203	4300	6503	179072376	SO:0001587	stop_gained	9213	exon11			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1402C>T	1.37:g.180805753C>T	ENSP00000356562:p.Arg468*	Somatic		Capture	Illumina HiSeq	Phase_I	179072376	NM_004736	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Nonsense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	43	9.839528	0.99276	.	.	ENSG00000143324	ENST00000367590	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6371	18.172	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	X	468	.	ENSP00000356562:R468X	R	+	1	2	XPR1	179072376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.830000	0.69324	2.386000	0.81285	0.563000	0.77884	CGA		0.468	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
CACNA1E	777	broad.mit.edu	37	1	181688958	181688958	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:181688958C>A	ENST00000367573.2	+	13	1710	c.1710C>A	c.(1708-1710)gtC>gtA	p.V570V	CACNA1E_ENST00000358338.5_Silent_p.V521V|CACNA1E_ENST00000367570.1_Silent_p.V570V|CACNA1E_ENST00000357570.5_Silent_p.V521V|CACNA1E_ENST00000526775.1_Silent_p.V570V|CACNA1E_ENST00000367567.4_Silent_p.V177V|CACNA1E_ENST00000360108.3_Silent_p.V570V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	570					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V570V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATCAGTGTCTTGCGAGCCC	0.443																																					p.V570V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710A	1						.						110.0	96.0	100.0					1																	181688958		1892	4125	6017	179955581	SO:0001819	synonymous_variant	777	exon13			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1710C>A	1.37:g.181688958C>A		Somatic		Capture	Illumina HiSeq	Phase_I	179955581	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.443	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181721296	181721296	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:181721296A>C	ENST00000367573.2	+	27	3749	c.3749A>C	c.(3748-3750)gAc>gCc	p.D1250A	CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1182A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1250A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1201A|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D1231A|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D857A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1231A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1250					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.D1250A(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAGGACGGGACATCAAGACC	0.473																																					p.D1250A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3749C	1						.						113.0	110.0	111.0					1																	181721296		1904	4132	6036	179987919	SO:0001583	missense	777	exon27			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3749A>C	1.37:g.181721296A>C	ENSP00000356545:p.Asp1250Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179987919	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864012	0.91511	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97279	-3.89;-3.89;-3.97;-3.89;-4.32;-3.97;-3.98	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	L	0.58428	1.81	0.80722	D	1	P;D;D	0.89917	0.528;1.0;0.997	P;D;D	0.91635	0.45;0.999;0.91	D	0.98979	1.0804	10	0.87932	D	0	.	15.9601	0.79923	1.0:0.0:0.0:0.0	.	1231;1250;1250	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	A	1250;1231;1201;1182;857;1231;1250	ENSP00000356542:D1250A;ENSP00000434814:D1231A;ENSP00000350183:D1201A;ENSP00000351101:D1182A;ENSP00000356539:D857A;ENSP00000353222:D1231A;ENSP00000356545:D1250A	ENSP00000350183:D1201A	D	+	2	0	CACNA1E	179987919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.115000	0.94336	2.311000	0.77944	0.533000	0.62120	GAC		0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ZNF648	127665	broad.mit.edu	37	1	182026915	182026915	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:182026915C>A	ENST00000339948.3	-	2	438	c.231G>T	c.(229-231)gaG>gaT	p.E77D		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E77D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ATTTCTCTTCCTCTTTGCCCA	0.552																																					p.E77D	NSCLC(71;908 1374 5429 20458 35642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	1						.						77.0	80.0	79.0					1																	182026915		2203	4300	6503	180293538	SO:0001583	missense	127665	exon2			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.231G>T	1.37:g.182026915C>A	ENSP00000344129:p.Glu77Asp	Somatic		Capture	Illumina HiSeq	Phase_I	180293538	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593920	0.28445	.	.	ENSG00000179930	ENST00000339948	T	0.07908	3.15	2.61	1.65	0.23941	.	.	.	.	.	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	0.999999	P	0.40970	0.734	B	0.34301	0.179	T	0.38714	-0.9648	9	0.26408	T	0.33	.	4.3023	0.10930	0.0:0.6569:0.0:0.3431	.	77	Q5T619	ZN648_HUMAN	D	77	ENSP00000344129:E77D	ENSP00000344129:E77D	E	-	3	2	ZNF648	180293538	0.000000	0.05858	0.092000	0.20876	0.028000	0.11728	0.081000	0.14823	0.622000	0.30249	0.655000	0.94253	GAG		0.552	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
GLUL	2752	broad.mit.edu	37	1	182357774	182357774	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:182357774G>A	ENST00000331872.6	-	2	639	c.99C>T	c.(97-99)atC>atT	p.I33I	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Silent_p.I33I|GLUL_ENST00000311223.5_Silent_p.I33I|GLUL_ENST00000417584.2_Silent_p.I33I	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	33					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.I33I(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CAGTACCATCGATCCAGATAT	0.537																																					p.I33I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	1						.						164.0	146.0	152.0					1																	182357774		2203	4300	6503	180624397	SO:0001819	synonymous_variant	2752	exon3			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.99C>T	1.37:g.182357774G>A		Somatic		Capture	Illumina HiSeq	Phase_I	180624397	NM_002065	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Silent	SNP	ENST00000331872.6	37	CCDS1344.1																																																																																				0.537	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	
RGS8	85397	broad.mit.edu	37	1	182636089	182636089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:182636089G>A	ENST00000483095.2	-	4	303	c.46C>T	c.(46-48)Cga>Tga	p.R16*	RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Nonsense_Mutation_p.R16*|RGS8_ENST00000258302.4_Nonsense_Mutation_p.R34*|RGS8_ENST00000367557.4_Nonsense_Mutation_p.R16*			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	16					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R34*(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CATCCCAGTCGAGTCCTCATC	0.542																																					p.R34X	Ovarian(189;1262 3804 41973)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C100T	1						.						168.0	144.0	152.0					1																	182636089		2203	4300	6503	180902712	SO:0001587	stop_gained	85397	exon3			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.46C>T	1.37:g.182636089G>A	ENSP00000426289:p.Arg16*	Somatic		Capture	Illumina HiSeq	Phase_I	180902712	NM_033345	B4DGL9|Q3SYD2	Nonsense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	37	6.192882	0.97362	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	.	.	.	5.45	5.45	0.79879	.	0.060190	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2074	0.82138	0.0:0.0:1.0:0.0	.	.	.	.	X	16;34;16;16;16	.	ENSP00000258302:R34X	R	-	1	2	RGS8	180902712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.039000	0.57325	2.565000	0.86533	0.655000	0.94253	CGA		0.542	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345	
DHX9	1660	broad.mit.edu	37	1	182850469	182850469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:182850469C>T	ENST00000367549.3	+	23	2805	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	899				R -> Q (in Ref. 1; AAB48855). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.R899W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGAAGGAAAGCGGCTGGGCTA	0.438																																					p.R899W	Colon(69;210 1162 3697 13559 39565)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2695T	1						.						133.0	129.0	131.0					1																	182850469		1913	4115	6028	181117092	SO:0001583	missense	1660	exon23			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2695C>T	1.37:g.182850469C>T	ENSP00000356520:p.Arg899Trp	Somatic		Capture	Illumina HiSeq	Phase_I	181117092	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730156	0.69074	.	.	ENSG00000135829	ENST00000367549	T	0.32753	1.44	5.76	2.72	0.32119	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.93678	3.445	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74642	-0.3597	10	0.87932	D	0	.	15.0698	0.72026	0.6373:0.3627:0.0:0.0	.	178;899	B3KU66;Q08211	.;DHX9_HUMAN	W	899	ENSP00000356520:R899W	ENSP00000356520:R899W	R	+	1	2	DHX9	181117092	0.344000	0.24827	0.577000	0.28562	0.853000	0.48598	0.584000	0.23864	0.281000	0.22233	0.655000	0.94253	CGG		0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
LAMC1	3915	broad.mit.edu	37	1	183085790	183085790	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183085790C>T	ENST00000258341.4	+	7	1664	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	469	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.V469V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAGACAATGTCGAAGGCTTCA	0.353																																					p.V469V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1407T	1						.						212.0	199.0	203.0					1																	183085790		2203	4300	6503	181352413	SO:0001819	synonymous_variant	3915	exon7			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1407C>T	1.37:g.183085790C>T		Somatic		Capture	Illumina HiSeq	Phase_I	181352413	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.353	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183091039	183091039	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183091039C>T	ENST00000258341.4	+	12	2429	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	724	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.C724C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GTGTGCTTTGCGCCTGCAATG	0.478																																					p.C724C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2172T	1						.						133.0	118.0	124.0					1																	183091039		2203	4300	6503	181357662	SO:0001819	synonymous_variant	3915	exon12			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2172C>T	1.37:g.183091039C>T		Somatic		Capture	Illumina HiSeq	Phase_I	181357662	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183103801	183103801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183103801G>A	ENST00000258341.4	+	23	4113	c.3856G>A	c.(3856-3858)Gca>Aca	p.A1286T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1286	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A1286T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACAGAATGAAGCAAATAACAT	0.348																																					p.A1286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3856A	1						.						73.0	80.0	78.0					1																	183103801		2203	4300	6503	181370424	SO:0001583	missense	3915	exon23			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3856G>A	1.37:g.183103801G>A	ENSP00000258341:p.Ala1286Thr	Somatic		Capture	Illumina HiSeq	Phase_I	181370424	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990068	0.93106	.	.	ENSG00000135862	ENST00000258341	T	0.78003	-1.14	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.52266	1.64	0.80722	D	1	P	0.42692	0.787	B	0.33121	0.158	T	0.76013	-0.3114	10	0.52906	T	0.07	.	19.2885	0.94089	0.0:0.0:1.0:0.0	.	1286	P11047	LAMC1_HUMAN	T	1286	ENSP00000258341:A1286T	ENSP00000258341:A1286T	A	+	1	0	LAMC1	181370424	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.135000	0.94478	2.651000	0.90000	0.655000	0.94253	GCA		0.348	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183105702	183105702	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183105702C>T	ENST00000258341.4	+	25	4553	c.4296C>T	c.(4294-4296)atC>atT	p.I1432I	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1432	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.I1432I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CGGAGAGGATCGCGAGCGCTG	0.572																																					p.I1432I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4296T	1						.						57.0	58.0	58.0					1																	183105702		2203	4300	6503	181372325	SO:0001819	synonymous_variant	3915	exon25			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4296C>T	1.37:g.183105702C>T		Somatic		Capture	Illumina HiSeq	Phase_I	181372325	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.572	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
APOBEC4	403314	broad.mit.edu	37	1	183616949	183616949	+	Missense_Mutation	SNP	G	G	A	rs370218327		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183616949G>A	ENST00000308641.4	-	2	1239	c.968C>T	c.(967-969)cCt>cTt	p.P323L	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	323					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.P323L(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TGACATTTGAGGCATATTTAA	0.458																																					p.P323L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968T	1						.						160.0	149.0	153.0					1																	183616949		2203	4300	6503	181883572	SO:0001583	missense	403314	exon2			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.968C>T	1.37:g.183616949G>A	ENSP00000310622:p.Pro323Leu	Somatic		Capture	Illumina HiSeq	Phase_I	181883572	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407454	0.25378	.	.	ENSG00000173627	ENST00000308641	T	0.14144	2.53	5.15	3.25	0.37280	.	0.114530	0.36932	N	0.002327	T	0.07279	0.0184	N	0.16656	0.425	0.43471	D	0.995687	B	0.21225	0.053	B	0.22152	0.038	T	0.20806	-1.0264	10	0.07813	T	0.8	-26.039	9.6061	0.39634	0.1757:0.0:0.8243:0.0	.	323	Q8WW27	ABEC4_HUMAN	L	323	ENSP00000310622:P323L	ENSP00000310622:P323L	P	-	2	0	APOBEC4	181883572	1.000000	0.71417	0.999000	0.59377	0.516000	0.34256	3.173000	0.50839	0.549000	0.28973	0.655000	0.94253	CCT		0.458	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454	
EDEM3	80267	broad.mit.edu	37	1	184680916	184680916	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:184680916A>G	ENST00000318130.8	-	15	1898	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	EDEM3_ENST00000367512.3_Silent_p.S501S|EDEM3_ENST00000466392.1_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	544					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S501S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTCACGAATACTTTGAGCAT	0.373																																					p.S544S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1632C	1						.						104.0	98.0	100.0					1																	184680916		2203	4300	6503	182947539	SO:0001819	synonymous_variant	80267	exon15			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1632T>C	1.37:g.184680916A>G		Somatic		Capture	Illumina HiSeq	Phase_I	182947539	NM_025191	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	CCDS1363.2																																																																																				0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191	
FAM129A	116496	broad.mit.edu	37	1	184772798	184772798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:184772798C>T	ENST00000367511.3	-	12	1668	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	492					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R492Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TATCTTCTTTCGGATGGTGCT	0.388																																					p.R492Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1475A	1						.						227.0	203.0	211.0					1																	184772798		2203	4300	6503	183039421	SO:0001583	missense	116496	exon12			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1475G>A	1.37:g.184772798C>T	ENSP00000356481:p.Arg492Gln	Somatic		Capture	Illumina HiSeq	Phase_I	183039421	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782868	0.90282	.	.	ENSG00000135842	ENST00000367511	T	0.15603	2.41	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.67700	2.07	0.49798	D	0.999821	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.21280	-1.0250	10	0.59425	D	0.04	-25.4805	17.2043	0.86914	0.0:1.0:0.0:0.0	.	23;492	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	Q	492	ENSP00000356481:R492Q	ENSP00000356481:R492Q	R	-	2	0	FAM129A	183039421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.433000	0.73404	2.490000	0.84030	0.655000	0.94253	CGA		0.388	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
FAM129A	116496	broad.mit.edu	37	1	184863289	184863289	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:184863289A>C	ENST00000367511.3	-	3	431	c.238T>G	c.(238-240)Tct>Gct	p.S80A		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	80					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S80A(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTCTTCAGAAAATTGTGAT	0.358																																					p.S80A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T238G	1						.						179.0	168.0	172.0					1																	184863289		2202	4300	6502	183129912	SO:0001583	missense	116496	exon3			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.238T>G	1.37:g.184863289A>C	ENSP00000356481:p.Ser80Ala	Somatic		Capture	Illumina HiSeq	Phase_I	183129912	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	3.801	-0.041668	0.07452	.	.	ENSG00000135842	ENST00000367511	T	0.20069	2.1	5.21	4.29	0.51040	.	0.308791	0.27764	N	0.017954	T	0.04679	0.0127	N	0.00347	-1.61	0.20873	N	0.999838	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.02654	T	1	-4.3545	12.2616	0.54652	0.1779:0.8221:0.0:0.0	.	80	Q9BZQ8	NIBAN_HUMAN	A	80	ENSP00000356481:S80A	ENSP00000356481:S80A	S	-	1	0	FAM129A	183129912	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.153000	0.31676	1.400000	0.46741	-0.460000	0.05396	TCT		0.358	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
SWT1	54823	broad.mit.edu	37	1	185153929	185153929	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:185153929G>A	ENST00000367500.4	+	9	1460	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	SWT1_ENST00000367501.3_Missense_Mutation_p.R432H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	432	PINc.							p.R432H(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGCTAGATCGTATGAAGGAA	0.343																																					p.R432H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1295A	1						.						106.0	105.0	106.0					1																	185153929		2203	4300	6503	183420552	SO:0001583	missense	54823	exon9			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1295G>A	1.37:g.185153929G>A	ENSP00000356470:p.Arg432His	Somatic		Capture	Illumina HiSeq	Phase_I	183420552	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153821	0.57259	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19532	2.14;2.14	5.34	4.43	0.53597	Nucleotide binding protein, PINc (1);	0.382701	0.28257	N	0.016002	T	0.30510	0.0767	L	0.43646	1.37	0.28150	N	0.929444	D	0.76494	0.999	D	0.67231	0.95	T	0.08452	-1.0721	10	0.25751	T	0.34	.	7.0018	0.24813	0.2419:0.0:0.7581:0.0	.	432	Q5T5J6	SWT1_HUMAN	H	432	ENSP00000356471:R432H;ENSP00000356470:R432H	ENSP00000356470:R432H	R	+	2	0	SWT1	183420552	0.994000	0.37717	0.998000	0.56505	0.998000	0.95712	2.245000	0.43133	1.241000	0.43820	0.557000	0.71058	CGT		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SWT1	54823	broad.mit.edu	37	1	185191052	185191052	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:185191052G>T	ENST00000367500.4	+	15	2358	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N	SWT1_ENST00000367501.3_Missense_Mutation_p.K731N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	731								p.K731N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTTCATTGAAGAATTCTCATA	0.373																																					p.K731N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2193T	1						.						152.0	160.0	157.0					1																	185191052		2203	4300	6503	183457675	SO:0001583	missense	54823	exon15			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2193G>T	1.37:g.185191052G>T	ENSP00000356470:p.Lys731Asn	Somatic		Capture	Illumina HiSeq	Phase_I	183457675	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.215184	0.01542	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18657	2.2;2.2	5.43	2.45	0.29901	.	0.968509	0.08564	N	0.927146	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	10	0.16896	T	0.51	.	4.3414	0.11112	0.3473:0.2231:0.4295:0.0	.	731	Q5T5J6	SWT1_HUMAN	N	731	ENSP00000356471:K731N;ENSP00000356470:K731N	ENSP00000356470:K731N	K	+	3	2	SWT1	183457675	0.773000	0.28580	0.079000	0.20413	0.009000	0.06853	1.213000	0.32407	0.668000	0.31126	-0.229000	0.12294	AAG		0.373	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SWT1	54823	broad.mit.edu	37	1	185259847	185259847	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:185259847A>G	ENST00000367500.4	+	19	2780	c.2615A>G	c.(2614-2616)gAa>gGa	p.E872G	SWT1_ENST00000367501.3_Missense_Mutation_p.E872G	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	872								p.E872G(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTTGAGATGGAATATACCATG	0.388																																					p.E872G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2615G	1						.						89.0	86.0	87.0					1																	185259847		2203	4300	6503	183526470	SO:0001583	missense	54823	exon19			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2615A>G	1.37:g.185259847A>G	ENSP00000356470:p.Glu872Gly	Somatic		Capture	Illumina HiSeq	Phase_I	183526470	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132970	0.56828	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.21031	2.03;2.03	5.67	3.36	0.38483	.	0.507929	0.22693	N	0.056796	T	0.14399	0.0348	L	0.27053	0.805	0.32460	N	0.544244	P	0.42456	0.78	B	0.40636	0.335	T	0.13495	-1.0507	10	0.48119	T	0.1	.	7.1154	0.25414	0.7629:0.1617:0.0755:0.0	.	872	Q5T5J6	SWT1_HUMAN	G	872	ENSP00000356471:E872G;ENSP00000356470:E872G	ENSP00000356470:E872G	E	+	2	0	SWT1	183526470	0.917000	0.31117	0.578000	0.28575	0.994000	0.84299	1.839000	0.39220	0.427000	0.26145	0.533000	0.62120	GAA		0.388	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
HMCN1	83872	broad.mit.edu	37	1	185951499	185951499	+	Missense_Mutation	SNP	G	G	A	rs144772706		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:185951499G>A	ENST00000271588.4	+	18	2997	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	923	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R923Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGAACGTCGGTGGATTAAG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19441	0.001		0.0	False		,,,				2504	0.0				p.R923Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2768A	1						.	G	GLN/ARG	0,4406		0,0,2203	119.0	116.0	117.0		2768	2.3	1.0	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	923/5636	185951499	1,13005	2203	4300	6503	184218122	SO:0001583	missense	83872	exon18			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2768G>A	1.37:g.185951499G>A	ENSP00000271588:p.Arg923Gln	Somatic		Capture	Illumina HiSeq	Phase_I	184218122	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.89	2.669495	0.47677	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	4.92	2.34	0.29019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327767	0.33110	N	0.005271	T	0.44477	0.1295	L	0.33189	0.99	0.30240	N	0.795063	B;B	0.09022	0.001;0.002	B;B	0.14578	0.002;0.011	T	0.34129	-0.9841	10	0.12103	T	0.63	.	8.8639	0.35274	0.4356:0.0:0.5644:0.0	.	307;923	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	Q	923	ENSP00000271588:R923Q;ENSP00000356462:R923Q	ENSP00000271588:R923Q	R	+	2	0	HMCN1	184218122	0.994000	0.37717	0.997000	0.53966	0.977000	0.68977	1.293000	0.33353	0.320000	0.23234	0.650000	0.86243	CGG		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	185984562	185984562	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:185984562T>G	ENST00000271588.4	+	31	5131	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1634E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1634	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D1634E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCATGTGGATGTCTATGGTG	0.373																																					p.D1634E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4902G	1						.						104.0	105.0	105.0					1																	185984562		2203	4300	6503	184251185	SO:0001583	missense	83872	exon31			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4902T>G	1.37:g.185984562T>G	ENSP00000271588:p.Asp1634Glu	Somatic		Capture	Illumina HiSeq	Phase_I	184251185	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	9.570	1.120829	0.20877	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64991	-0.13;-0.13	5.5	-11.0	0.00169	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157142	0.64402	N	0.000017	T	0.24160	0.0585	N	0.12527	0.23	0.40540	D	0.981015	B	0.21225	0.053	B	0.25140	0.058	T	0.55068	-0.8198	10	0.02654	T	1	.	3.5706	0.07916	0.1801:0.4332:0.1012:0.2855	.	1634	Q96RW7	HMCN1_HUMAN	E	1634	ENSP00000271588:D1634E;ENSP00000356462:D1634E	ENSP00000271588:D1634E	D	+	3	2	HMCN1	184251185	0.132000	0.22450	0.042000	0.18584	0.956000	0.61745	-0.614000	0.05604	-2.632000	0.00434	-0.336000	0.08194	GAT		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186151369	186151369	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186151369G>A	ENST00000271588.4	+	105	16593	c.16364G>A	c.(16363-16365)tGc>tAc	p.C5455Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5338Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5455	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C5455Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTATCAGTGCATCTGCCCA	0.403																																					p.C5455Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16364A	1						.						140.0	131.0	134.0					1																	186151369		2203	4300	6503	184417992	SO:0001583	missense	83872	exon105			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16364G>A	1.37:g.186151369G>A	ENSP00000271588:p.Cys5455Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	184417992	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629812	0.87660	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99999	-13.64;-13.64;-13.64	5.42	5.42	0.78866	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99999	1.0000	H	0.99444	4.57	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99998	1.6824	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	5455	Q96RW7	HMCN1_HUMAN	Y	5455;5338;130	ENSP00000271588:C5455Y;ENSP00000356462:C5338Y;ENSP00000406205:C130Y	ENSP00000271588:C5455Y	C	+	2	0	HMCN1	184417992	1.000000	0.71417	0.946000	0.38457	0.981000	0.71138	9.562000	0.98145	2.528000	0.85240	0.563000	0.77884	TGC		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PRG4	10216	broad.mit.edu	37	1	186275793	186275793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186275793G>T	ENST00000445192.2	+	7	987	c.942G>T	c.(940-942)gaG>gaT	p.E314D	PRG4_ENST00000367486.3_Missense_Mutation_p.E271D|PRG4_ENST00000367484.3_Missense_Mutation_p.E273D|PRG4_ENST00000367485.4_Missense_Mutation_p.E221D|PRG4_ENST00000367483.4_Missense_Mutation_p.E273D	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	314					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E314D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAAGTATAGAGAAAACATCTG	0.403																																					p.E273D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G819T	1						.						102.0	114.0	110.0					1																	186275793		2203	4300	6503	184542416	SO:0001583	missense	10216	exon6			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.942G>T	1.37:g.186275793G>T	ENSP00000399679:p.Glu314Asp	Somatic		Capture	Illumina HiSeq	Phase_I	184542416	NM_001127708	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	g	2.679	-0.275833	0.05679	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06608	3.28;3.52;3.5;3.36;3.49	3.43	1.41	0.22369	.	0.869658	0.09496	N	0.794246	T	0.04907	0.0132	L	0.32530	0.975	0.22412	N	0.999123	P;P;P;P	0.40107	0.703;0.703;0.578;0.703	B;B;B;B	0.36418	0.224;0.135;0.064;0.135	T	0.41413	-0.9510	9	.	.	.	-5.2311	5.3179	0.15866	0.1945:0.3133:0.4922:0.0	.	180;221;314;273	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	D	271;273;180;273;221;314	ENSP00000356456:E271D;ENSP00000356454:E273D;ENSP00000356453:E273D;ENSP00000356455:E221D;ENSP00000399679:E314D	.	E	+	3	2	PRG4	184542416	0.968000	0.33430	0.901000	0.35422	0.095000	0.18619	-0.036000	0.12185	0.097000	0.17492	0.441000	0.28932	GAG		0.403	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
PRG4	10216	broad.mit.edu	37	1	186277919	186277919	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186277919A>T	ENST00000445192.2	+	7	3113	c.3068A>T	c.(3067-3069)aAg>aTg	p.K1023M	PRG4_ENST00000367486.3_Missense_Mutation_p.K980M|PRG4_ENST00000367484.3_Missense_Mutation_p.K552M|PRG4_ENST00000367485.4_Missense_Mutation_p.K930M|PRG4_ENST00000367483.4_Missense_Mutation_p.K982M	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1023					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.K1023M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAACCTCAAAAGCCAACCAAA	0.408																																					p.K982M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2945T	1						.						144.0	164.0	157.0					1																	186277919		2203	4300	6503	184544542	SO:0001583	missense	10216	exon6			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3068A>T	1.37:g.186277919A>T	ENSP00000399679:p.Lys1023Met	Somatic		Capture	Illumina HiSeq	Phase_I	184544542	NM_001127708	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	9.343	1.063580	0.20067	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.07908	3.15;3.37;3.26;3.17;3.26	3.7	2.53	0.30540	.	0.152041	0.30185	U	0.010210	T	0.16727	0.0402	L	0.47190	1.495	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;P;D	0.65684	0.937;0.937;0.867;0.937	T	0.02391	-1.1166	10	0.72032	D	0.01	-2.7687	7.2625	0.26212	0.774:0.226:0.0:0.0	.	889;930;1023;982	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	M	980;552;982;930;1023	ENSP00000356456:K980M;ENSP00000356454:K552M;ENSP00000356453:K982M;ENSP00000356455:K930M;ENSP00000399679:K1023M	ENSP00000356453:K982M	K	+	2	0	PRG4	184544542	0.254000	0.23992	0.080000	0.20451	0.381000	0.30169	1.643000	0.37217	0.601000	0.29879	0.472000	0.43445	AAG		0.408	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
TPR	7175	broad.mit.edu	37	1	186305724	186305724	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186305724T>C	ENST00000367478.4	-	33	4905	c.4609A>G	c.(4609-4611)Aca>Gca	p.T1537A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1537					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T1538A(1)|p.T1537A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCTCCTGTGTGGTTCTATCT	0.413			T	NTRK1	papillary thyroid																																p.T1537A			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4609G	1						.						128.0	113.0	118.0					1																	186305724		1896	4104	6000	184572347	SO:0001583	missense	7175	exon33			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4609A>G	1.37:g.186305724T>C	ENSP00000356448:p.Thr1537Ala	Somatic		Capture	Illumina HiSeq	Phase_I	184572347	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970376	0.34754	.	.	ENSG00000047410	ENST00000367478	T	0.20738	2.05	5.74	4.63	0.57726	.	0.207947	0.50627	D	0.000114	T	0.09818	0.0241	N	0.11560	0.145	0.34243	D	0.677823	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.15499	T	0.54	.	8.4793	0.33032	0.0:0.1445:0.0:0.8555	.	1537	P12270	TPR_HUMAN	A	1537	ENSP00000356448:T1537A	ENSP00000356448:T1537A	T	-	1	0	TPR	184572347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.191000	0.70037	0.528000	0.53228	ACA		0.413	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186315404	186315404	+	Missense_Mutation	SNP	G	G	A	rs556789304		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186315404G>A	ENST00000367478.4	-	23	3255	c.2959C>T	c.(2959-2961)Cgt>Tgt	p.R987C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	987					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R987C(1)|p.R988C(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATATTCTTACGCACTTCTTCT	0.313			T	NTRK1	papillary thyroid								G|||	1	0.000199681	0.0	0.0	5008	,	,		16943	0.001		0.0	False		,,,				2504	0.0				p.R987C			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2959T	1						.						123.0	105.0	111.0					1																	186315404		1837	4088	5925	184582027	SO:0001583	missense	7175	exon23			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2959C>T	1.37:g.186315404G>A	ENSP00000356448:p.Arg987Cys	Somatic		Capture	Illumina HiSeq	Phase_I	184582027	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172370	0.57584	.	.	ENSG00000047410	ENST00000367478	T	0.27104	1.69	5.75	5.75	0.90469	Prefoldin (1);	0.219510	0.47455	D	0.000231	T	0.32823	0.0842	L	0.29908	0.895	0.47778	D	0.999515	D	0.76494	0.999	P	0.56088	0.791	T	0.03121	-1.1070	10	0.87932	D	0	.	13.8659	0.63588	0.0:0.0:0.8476:0.1523	.	987	P12270	TPR_HUMAN	C	987	ENSP00000356448:R987C	ENSP00000356448:R987C	R	-	1	0	TPR	184582027	1.000000	0.71417	0.768000	0.31515	0.355000	0.29361	6.486000	0.73629	2.701000	0.92244	0.650000	0.86243	CGT		0.313	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PLA2G4A	5321	broad.mit.edu	37	1	186934559	186934559	+	Missense_Mutation	SNP	G	G	A	rs114563081		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186934559G>A	ENST00000367466.3	+	15	1750	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.R473Q	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	533	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.R533Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GAATTTGAGCGAATATATGAG	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.0		0.001	False		,,,				2504	0.0				p.R533Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598A	1						.	G	GLN/ARG	0,4406		0,0,2203	74.0	78.0	76.0		1598	-3.4	0.0	1	dbSNP_133	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PLA2G4A	NM_024420.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	533/750	186934559	2,13004	2203	4300	6503	185201182	SO:0001583	missense	5321	exon15			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1598G>A	1.37:g.186934559G>A	ENSP00000356436:p.Arg533Gln	Somatic		Capture	Illumina HiSeq	Phase_I	185201182	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.032	0.987491	0.18966	0.0	2.33E-4	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.34472	1.36;1.36	5.41	-3.4	0.04853	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.431058	0.26435	N	0.024397	T	0.18215	0.0437	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.13255	-1.0516	10	0.22706	T	0.39	0.4012	12.0888	0.53713	0.5447:0.0:0.4553:0.0	.	473;533	E7EU42;P47712	.;PA24A_HUMAN	Q	533;473	ENSP00000356436:R533Q;ENSP00000406892:R473Q	ENSP00000356436:R533Q	R	+	2	0	PLA2G4A	185201182	0.161000	0.22892	0.039000	0.18376	0.905000	0.53344	0.679000	0.25291	-1.063000	0.03177	-0.150000	0.13652	CGA		0.333	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
BRINP3	339479	broad.mit.edu	37	1	190067548	190067548	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:190067548T>C	ENST00000367462.3	-	8	2132	c.1901A>G	c.(1900-1902)aAg>aGg	p.K634R	BRINP3_ENST00000534846.1_Missense_Mutation_p.K532R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	634					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.K634R(1)									ACCATTGGACTTGATGCGACT	0.418																																					p.K634R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1901G	1						.						197.0	207.0	203.0					1																	190067548		2203	4300	6503	188334171	SO:0001583	missense	339479	exon8			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1901A>G	1.37:g.190067548T>C	ENSP00000356432:p.Lys634Arg	Somatic		Capture	Illumina HiSeq	Phase_I	188334171	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	0.422	-0.907742	0.02434	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18810	2.46;2.19	5.64	0.661	0.17874	.	0.177207	0.47852	N	0.000211	T	0.13798	0.0334	L	0.37750	1.13	0.41141	D	0.98595	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.15925	-1.0420	10	0.22706	T	0.39	.	8.86	0.35251	0.0:0.3038:0.0:0.6962	.	532;634	B7Z260;Q76B58	.;FAM5C_HUMAN	R	634;532	ENSP00000356432:K634R;ENSP00000438022:K532R	ENSP00000356432:K634R	K	-	2	0	FAM5C	188334171	1.000000	0.71417	0.535000	0.28026	0.091000	0.18340	3.363000	0.52321	-0.127000	0.11661	0.528000	0.53228	AAG		0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
RGS18	64407	broad.mit.edu	37	1	192153574	192153574	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:192153574G>T	ENST00000367460.3	+	5	779	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	200	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D200Y(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCTATTTAGACTTGATGGA	0.413																																					p.D200Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598T	1						.						123.0	116.0	118.0					1																	192153574		2203	4299	6502	190420197	SO:0001583	missense	64407	exon5			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.598G>T	1.37:g.192153574G>T	ENSP00000356430:p.Asp200Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	190420197	NM_130782	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098412	0.56183	.	.	ENSG00000150681	ENST00000367460	T	0.65364	-0.15	5.62	1.57	0.23409	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.680872	0.16444	N	0.214181	T	0.66934	0.2840	M	0.76838	2.35	0.09310	N	1	B	0.31893	0.345	B	0.43658	0.426	T	0.63242	-0.6681	10	0.87932	D	0	.	6.1509	0.20310	0.2202:0.2623:0.5175:0.0	.	200	Q9NS28	RGS18_HUMAN	Y	200	ENSP00000356430:D200Y	ENSP00000356430:D200Y	D	+	1	0	RGS18	190420197	0.993000	0.37304	0.921000	0.36526	0.986000	0.74619	1.320000	0.33666	0.038000	0.15604	0.563000	0.77884	GAC		0.413	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782	
UBR4	23352	broad.mit.edu	37	1	19499363	19499363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:19499363G>T	ENST00000375254.3	-	25	3543	c.3516C>A	c.(3514-3516)ttC>ttA	p.F1172L	UBR4_ENST00000375217.2_Missense_Mutation_p.F1172L|UBR4_ENST00000375226.2_Missense_Mutation_p.F1172L|UBR4_ENST00000375267.2_Missense_Mutation_p.F1172L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1172					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F1172L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACACCTGGTGAACGATGCAT	0.483																																					p.F1172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3516A	1						.						78.0	72.0	74.0					1																	19499363		2203	4300	6503	19371950	SO:0001583	missense	23352	exon25			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3516C>A	1.37:g.19499363G>T	ENSP00000364403:p.Phe1172Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19371950	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621790	0.14193	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.95	4.08	0.47627	.	0.111064	0.64402	D	0.000008	T	0.28599	0.0708	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09079	-1.0691	10	0.08599	T	0.76	.	10.7932	0.46445	0.2017:0.0:0.7983:0.0	.	1172	Q5T4S7	UBR4_HUMAN	L	1172;1172;1172;1172;388	ENSP00000364403:F1172L;ENSP00000364416:F1172L;ENSP00000364365:F1172L;ENSP00000364374:F1172L	ENSP00000364365:F1172L	F	-	3	2	UBR4	19371950	1.000000	0.71417	0.956000	0.39512	0.099000	0.18886	2.242000	0.43106	1.526000	0.49068	0.655000	0.94253	TTC		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
RGS21	431704	broad.mit.edu	37	1	192316499	192316499	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:192316499A>G	ENST00000417209.2	+	3	242	c.68A>G	c.(67-69)gAc>gGc	p.D23G		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	23	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D23G(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GAAAATATGGACACGCTTTTA	0.308																																					p.D23G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68G	1						.						139.0	133.0	135.0					1																	192316499		1845	4092	5937	190583122	SO:0001583	missense	431704	exon3			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.68A>G	1.37:g.192316499A>G	ENSP00000428343:p.Asp23Gly	Somatic		Capture	Illumina HiSeq	Phase_I	190583122	NM_001039152		Missense_Mutation	SNP	ENST00000417209.2	37	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908693	0.72868	.	.	ENSG00000253148	ENST00000417209	T	0.33654	1.4	6.08	6.08	0.98989	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.35096	U	0.003458	T	0.63438	0.2511	M	0.87971	2.92	0.46654	D	0.999149	P	0.51147	0.942	D	0.63381	0.914	T	0.69300	-0.5181	10	0.72032	D	0.01	.	14.0244	0.64577	1.0:0.0:0.0:0.0	.	23	Q2M5E4	RGS21_HUMAN	G	23	ENSP00000428343:D23G	ENSP00000428343:D23G	D	+	2	0	RGS21	190583122	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.089000	0.76909	2.333000	0.79357	0.482000	0.46254	GAC		0.308	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2		
CFH	3075	broad.mit.edu	37	1	196716366	196716366	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:196716366C>A	ENST00000367429.4	+	22	3859	c.3619C>A	c.(3619-3621)Ctt>Att	p.L1207I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1207	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.L1207I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGATATCGTCTTTCATCACG	0.388																																					p.L1207I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3619A	1						.						184.0	163.0	170.0					1																	196716366		2203	4300	6503	194982989	SO:0001583	missense	3075	exon22			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3619C>A	1.37:g.196716366C>A	ENSP00000356399:p.Leu1207Ile	Somatic		Capture	Illumina HiSeq	Phase_I	194982989	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306021	0.23736	.	.	ENSG00000000971	ENST00000367429	T	0.69926	-0.44	4.2	-8.39	0.00969	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.34745	0.0908	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21348	-1.0248	9	0.44086	T	0.13	.	3.6975	0.08369	0.26:0.336:0.3174:0.0867	.	1207	P08603	CFAH_HUMAN	I	1207	ENSP00000356399:L1207I	ENSP00000356399:L1207I	L	+	1	0	CFH	194982989	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.514000	0.02254	-2.181000	0.00765	-0.519000	0.04390	CTT		0.388	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFHR1	3078	broad.mit.edu	37	1	196794722	196794722	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:196794722T>C	ENST00000320493.5	+	2	262	c.174T>C	c.(172-174)aaT>aaC	p.N58N	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Silent_p.N58N	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	58	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N58N(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTGAATATAATTTTGTGTCTC	0.363																																					p.N58N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T174C	1						.						56.0	63.0	61.0					1																	196794722		1847	4115	5962	195061345	SO:0001819	synonymous_variant	3078	exon2			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.174T>C	1.37:g.196794722T>C		Somatic		Capture	Illumina HiSeq	Phase_I	195061345	NM_002113	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																				0.363	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113	
CFHR1	3078	broad.mit.edu	37	1	196796062	196796062	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:196796062A>G	ENST00000320493.5	+	3	445	c.357A>G	c.(355-357)agA>agG	p.R119R	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Silent_p.R119R	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R119R(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAGGATACAGACTTCAAAACA	0.418																																					p.R119R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A357G	1						.						114.0	122.0	119.0					1																	196796062		1880	4129	6009	195062685	SO:0001819	synonymous_variant	3078	exon3			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.357A>G	1.37:g.196796062A>G		Somatic		Capture	Illumina HiSeq	Phase_I	195062685	NM_002113	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																				0.418	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113	
F13B	2165	broad.mit.edu	37	1	197019944	197019944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197019944C>A	ENST00000367412.1	-	10	1664	c.1621G>T	c.(1621-1623)Gac>Tac	p.D541Y	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	541	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.D541Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCATAGGTGTCTACTGTTGAA	0.353																																					p.D541Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1621T	1						.						103.0	104.0	104.0					1																	197019944		2203	4300	6503	195286567	SO:0001583	missense	2165	exon10			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1621G>T	1.37:g.197019944C>A	ENSP00000356382:p.Asp541Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	195286567	NM_001994	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677724	0.29783	.	.	ENSG00000143278	ENST00000367412	T	0.66995	-0.24	5.54	-3.44	0.04796	Complement control module (2);Sushi/SCR/CCP (3);	2.136340	0.02498	N	0.090161	T	0.68137	0.2968	L	0.52905	1.665	0.09310	N	1	D	0.55385	0.971	P	0.51229	0.663	T	0.62845	-0.6768	10	0.59425	D	0.04	.	7.3104	0.26471	0.0:0.2524:0.2115:0.5362	.	541	P05160	F13B_HUMAN	Y	541	ENSP00000356382:D541Y	ENSP00000356382:D541Y	D	-	1	0	F13B	195286567	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.004000	0.12878	-0.455000	0.07054	0.591000	0.81541	GAC		0.353	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
ASPM	259266	broad.mit.edu	37	1	197062382	197062382	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197062382C>T	ENST00000367409.4	-	21	9350	c.9094G>A	c.(9094-9096)Gct>Act	p.A3032T	ASPM_ENST00000294732.7_Missense_Mutation_p.A1447T|ASPM_ENST00000367408.1_Missense_Mutation_p.A697T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3032	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A3032T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAACAAGCAGCTCGATGTCTC	0.363																																					p.A3032T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9094A	1						.						68.0	74.0	72.0					1																	197062382		2200	4298	6498	195329005	SO:0001583	missense	259266	exon21			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9094G>A	1.37:g.197062382C>T	ENSP00000356379:p.Ala3032Thr	Somatic		Capture	Illumina HiSeq	Phase_I	195329005	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065684	0.93898	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.46819	0.86;0.86;0.86	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.92412	3.305	0.43133	D	0.994872	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.984	D	0.83375	0.0009	10	0.72032	D	0.01	.	17.6842	0.88252	0.0:1.0:0.0:0.0	.	1018;1447;3032	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	T	3032;1447;697;1018	ENSP00000356379:A3032T;ENSP00000294732:A1447T;ENSP00000356378:A697T	ENSP00000294732:A1447T	A	-	1	0	ASPM	195329005	0.996000	0.38824	0.999000	0.59377	0.906000	0.53458	3.486000	0.53215	2.399000	0.81585	0.591000	0.81541	GCT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197070485	197070485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197070485C>A	ENST00000367409.4	-	18	8152	c.7896G>T	c.(7894-7896)caG>caT	p.Q2632H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2632	IQ 28. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2632H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TACAATGCTTCTGAATAATAA	0.368																																					p.Q2632H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7896T	1						.						63.0	59.0	61.0					1																	197070485		2203	4295	6498	195337108	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7896G>T	1.37:g.197070485C>A	ENSP00000356379:p.Gln2632His	Somatic		Capture	Illumina HiSeq	Phase_I	195337108	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024866	0.54683	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	D	0.86297	-2.1	5.09	3.93	0.45458	.	0.226336	0.31279	N	0.007933	D	0.94095	0.8107	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.998;1.0	D	0.94131	0.7388	10	0.87932	D	0	.	9.2432	0.37509	0.0:0.801:0.0:0.199	.	618;2632	E7EQ84;Q8IZT6	.;ASPM_HUMAN	H	2632;618	ENSP00000356379:Q2632H	ENSP00000356376:Q618H	Q	-	3	2	ASPM	195337108	0.998000	0.40836	0.997000	0.53966	0.435000	0.31806	3.237000	0.51344	2.525000	0.85131	0.557000	0.71058	CAG		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197087001	197087001	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197087001C>A	ENST00000367409.4	-	17	4239	c.3983G>T	c.(3982-3984)aGa>aTa	p.R1328I	ASPM_ENST00000294732.7_Missense_Mutation_p.R1328I|ASPM_ENST00000367408.1_Missense_Mutation_p.R578I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1328					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R1328I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTAAGACTCTTCGCCAATA	0.328																																					p.R1328I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3983T	1						.						153.0	167.0	162.0					1																	197087001		2201	4300	6501	195353624	SO:0001583	missense	259266	exon17			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3983G>T	1.37:g.197087001C>A	ENSP00000356379:p.Arg1328Ile	Somatic		Capture	Illumina HiSeq	Phase_I	195353624	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026498	0.75390	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70399	-0.48;1.67;1.67	5.6	4.69	0.59074	.	0.067148	0.64402	D	0.000008	D	0.84456	0.5476	M	0.89601	3.045	0.46901	D	0.99924	D;D	0.63046	0.991;0.992	D;D	0.66847	0.947;0.947	D	0.84574	0.0657	10	0.28530	T	0.3	.	12.4264	0.55548	0.0:0.9214:0.0:0.0786	.	1328;1328	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1328;1328;578	ENSP00000356379:R1328I;ENSP00000294732:R1328I;ENSP00000356378:R578I	ENSP00000294732:R1328I	R	-	2	0	ASPM	195353624	1.000000	0.71417	0.976000	0.42696	0.796000	0.44982	6.140000	0.71738	1.373000	0.46208	0.557000	0.71058	AGA		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ZBTB41	360023	broad.mit.edu	37	1	197128742	197128742	+	Missense_Mutation	SNP	C	C	T	rs142672193		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197128742C>T	ENST00000367405.4	-	10	2545	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	826					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R826H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGTAGTATGACGCACTAGGTC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.001				p.R826H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2477A	1						.	C	HIS/ARG	14,4392	22.3+/-47.3	0,14,2189	202.0	191.0	194.0		2477	0.3	0.0	1	dbSNP_134	194	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ZBTB41	NM_194314.2	29	0,22,6481	TT,TC,CC		0.093,0.3177,0.1692	benign	826/910	197128742	22,12984	2203	4300	6503	195395365	SO:0001583	missense	360023	exon10				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2477G>A	1.37:g.197128742C>T	ENSP00000356375:p.Arg826His	Somatic		Capture	Illumina HiSeq	Phase_I	195395365	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029256	0.08054	0.003177	9.3E-4	ENSG00000177888	ENST00000367405	T	0.05649	3.41	5.87	0.279	0.15677	.	0.400832	0.18681	N	0.134177	T	0.04679	0.0127	L	0.29908	0.895	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	10	0.59425	D	0.04	.	6.5645	0.22505	0.0:0.4154:0.123:0.4616	.	826	Q5SVQ8	ZBT41_HUMAN	H	826	ENSP00000356375:R826H	ENSP00000356375:R826H	R	-	2	0	ZBTB41	195395365	0.025000	0.19082	0.024000	0.17045	0.058000	0.15608	0.301000	0.19174	-0.216000	0.10048	0.655000	0.94253	CGT		0.468	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
ZBTB41	360023	broad.mit.edu	37	1	197145706	197145706	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197145706T>C	ENST00000367405.4	-	7	1935	c.1867A>G	c.(1867-1869)Aaa>Gaa	p.K623E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K623E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GAATGTATTTTTTTGTGCTTT	0.303																																					p.K623E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1867G	1						.						143.0	137.0	139.0					1																	197145706		2203	4298	6501	195412329	SO:0001583	missense	360023	exon7				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1867A>G	1.37:g.197145706T>C	ENSP00000356375:p.Lys623Glu	Somatic		Capture	Illumina HiSeq	Phase_I	195412329	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624194	0.66901	.	.	ENSG00000177888	ENST00000367405	T	0.24538	1.85	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.50154	0.1599	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.50608	-0.8808	10	0.87932	D	0	.	16.4052	0.83662	0.0:0.0:0.0:1.0	.	623	Q5SVQ8	ZBT41_HUMAN	E	623	ENSP00000356375:K623E	ENSP00000356375:K623E	K	-	1	0	ZBTB41	195412329	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.457000	0.80775	2.279000	0.76181	0.402000	0.26972	AAA		0.303	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
ZBTB41	360023	broad.mit.edu	37	1	197169391	197169391	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197169391C>A	ENST00000367405.4	-	1	281	c.213G>T	c.(211-213)aaG>aaT	p.K71N	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K71N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTAGCAAATTCTTATTATACT	0.358																																					p.K71N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G213T	1						.						56.0	60.0	59.0					1																	197169391		2203	4300	6503	195436014	SO:0001583	missense	360023	exon1				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.213G>T	1.37:g.197169391C>A	ENSP00000356375:p.Lys71Asn	Somatic		Capture	Illumina HiSeq	Phase_I	195436014	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952413	0.34471	.	.	ENSG00000177888	ENST00000367405	T	0.22336	1.96	4.96	4.04	0.47022	BTB/POZ fold (2);	0.000000	0.45361	D	0.000377	T	0.12433	0.0302	L	0.27053	0.805	0.36739	D	0.882147	P	0.43477	0.808	B	0.38842	0.283	T	0.06698	-1.0812	10	0.72032	D	0.01	.	4.6922	0.12786	0.0:0.6821:0.0:0.3179	.	71	Q5SVQ8	ZBT41_HUMAN	N	71	ENSP00000356375:K71N	ENSP00000356375:K71N	K	-	3	2	ZBTB41	195436014	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.014000	0.29950	2.265000	0.75225	0.305000	0.20034	AAG		0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
CRB1	23418	broad.mit.edu	37	1	197396745	197396745	+	Missense_Mutation	SNP	C	C	T	rs62635654		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:197396745C>T	ENST00000367400.3	+	7	2425	c.2290C>T	c.(2290-2292)Cgt>Tgt	p.R764C	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R652C|CRB1_ENST00000535699.1_Missense_Mutation_p.R695C|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367397.1_Missense_Mutation_p.R145C|CRB1_ENST00000544212.1_Missense_Mutation_p.R245C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	764	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> C (in RP12 and LCA8). {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12700176, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:15691574, ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:20956273}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R764C(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCAATATATCCGTGTCTGGCT	0.433																																					p.R764C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2290T	1	GRCh37	CM992151	CRB1	M	rs62635654	.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	62.0	58.0	59.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1954,2290	-1.7	0.0	1	dbSNP_129	59	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CRB1	NM_001193640.1,NM_201253.2	180,180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign	652/1295,764/1407	197396745	3,13003	2203	4300	6503	195663368	SO:0001583	missense	23418	exon7				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2290C>T	1.37:g.197396745C>T	ENSP00000356370:p.Arg764Cys	Somatic		Capture	Illumina HiSeq	Phase_I	195663368	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	6.841	0.524394	0.13066	0.0	3.49E-4	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.75	-1.74	0.08056	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.59376	0.2189	L	0.33710	1.025	0.09310	A	1.07569e-08	B;B;B;B	0.22276	0.067;0.023;0.03;0.007	B;B;B;B	0.12837	0.006;0.007;0.005;0.008	T	0.47420	-0.9119	8	0.37606	T	0.19	.	2.0427	0.03553	0.3777:0.3264:0.085:0.2109	rs62635654	695;652;413;764	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	C	695;764;652;245;145;413	ENSP00000438786:R695C;ENSP00000356370:R764C;ENSP00000356369:R652C;ENSP00000444556:R245C;ENSP00000356367:R145C	ENSP00000356367:R145C	R	+	1	0	CRB1	195663368	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	0.787000	0.26858	-0.146000	0.11274	0.650000	0.86243	CGT		0.433	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
NEK7	140609	broad.mit.edu	37	1	198247118	198247118	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198247118C>T	ENST00000367385.4	+	6	742	c.400C>T	c.(400-402)Cct>Tct	p.P134S	NEK7_ENST00000538004.1_Missense_Mutation_p.P134S	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P134S(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GAGGCTAATTCCTGAAAGAAC	0.318																																					p.P134S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400T	1						.						87.0	92.0	90.0					1																	198247118		2201	4297	6498	196513741	SO:0001583	missense	140609	exon6			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.400C>T	1.37:g.198247118C>T	ENSP00000356355:p.Pro134Ser	Somatic		Capture	Illumina HiSeq	Phase_I	196513741	NM_133494	A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977313	0.53720	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.37584	1.19;1.19	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052061	0.85682	D	0.000000	T	0.24812	0.0602	N	0.10916	0.065	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.05321	-1.0892	10	0.26408	T	0.33	.	18.7455	0.91791	0.0:1.0:0.0:0.0	.	134	Q8TDX7	NEK7_HUMAN	S	134	ENSP00000356355:P134S;ENSP00000444621:P134S	ENSP00000356355:P134S	P	+	1	0	NEK7	196513741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.532000	0.85374	0.650000	0.86243	CCT		0.318	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	
ATP6V1G3	127124	broad.mit.edu	37	1	198492597	198492597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198492597C>T	ENST00000367382.1	-	3	365	c.281G>A	c.(280-282)aGt>aAt	p.S94N	ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.S100N|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.S94N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.S100N			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	94					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.S94N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCATCACACTTTCCATATA	0.373																																					p.S94N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	1						.						209.0	175.0	187.0					1																	198492597		2203	4300	6503	196759220	SO:0001583	missense	127124	exon4			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.281G>A	1.37:g.198492597C>T	ENSP00000356352:p.Ser94Asn	Somatic		Capture	Illumina HiSeq	Phase_I	196759220	NM_133262	Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	C	0.621	-0.821036	0.02755	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.14	-1.09	0.09904	.	0.639977	0.17988	N	0.155301	T	0.28300	0.0699	L	0.39566	1.225	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.23154	-1.0196	10	0.20519	T	0.43	-0.5652	9.9178	0.41446	0.0:0.5762:0.0:0.4238	.	100;94	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	N	94;100;94;100	ENSP00000356352:S94N;ENSP00000356351:S100N;ENSP00000281087:S94N;ENSP00000417171:S100N	ENSP00000281087:S94N	S	-	2	0	ATP6V1G3	196759220	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.213000	0.09305	-0.109000	0.12044	-0.136000	0.14681	AGT		0.373	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326	
PTPRC	5788	broad.mit.edu	37	1	198676000	198676000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198676000G>T	ENST00000367376.2	+	9	988	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E225*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E275*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E114*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E112*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E273*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACCTTACAGAATGTAAAAA	0.318																																					p.E273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G817T	1						.						151.0	155.0	154.0					1																	198676000		2203	4300	6503	196942623	SO:0001587	stop_gained	5788	exon9			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.817G>T	1.37:g.198676000G>T	ENSP00000356346:p.Glu273*	Somatic		Capture	Illumina HiSeq	Phase_I	196942623	NM_002838	A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338273	0.41398	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	4.93	0.731	0.18277	.	0.780519	0.11241	N	0.584629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	3.7188	0.08448	0.0876:0.3111:0.4409:0.1604	.	.	.	.	X	112;275;209;225;225;159;273;207;112	.	ENSP00000306782:E112X	E	+	1	0	PTPRC	196942623	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.598000	0.24074	0.050000	0.15949	-0.176000	0.13171	GAA		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198682160	198682160	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198682160G>A	ENST00000367376.2	+	12	1415	c.1244G>A	c.(1243-1245)aGa>aAa	p.R415K	PTPRC_ENST00000352140.3_Missense_Mutation_p.R367K|PTPRC_ENST00000442510.2_Missense_Mutation_p.R417K|PTPRC_ENST00000348564.6_Missense_Mutation_p.R256K|PTPRC_ENST00000594404.1_Missense_Mutation_p.R254K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	415	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R415K(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCCCTCAAAGATCATTTCAT	0.323																																					p.R415K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1244A	1						.						102.0	113.0	109.0					1																	198682160		2203	4300	6503	196948783	SO:0001583	missense	5788	exon12			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1244G>A	1.37:g.198682160G>A	ENSP00000356346:p.Arg415Lys	Somatic		Capture	Illumina HiSeq	Phase_I	196948783	NM_002838	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	1.040	-0.679084	0.03378	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.57752	0.38	4.09	-4.31	0.03698	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.166720	0.02043	N	0.049437	T	0.35799	0.0944	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.25235	0.1;0.121;0.001;0.001;0.007	B;B;B;B;B	0.30251	0.047;0.113;0.005;0.009;0.024	T	0.19549	-1.0302	10	0.10636	T	0.68	.	7.7469	0.28875	0.1933:0.1482:0.6585:0.0	.	351;351;256;367;415	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	K	417;351;367;367;301;415;349;254	ENSP00000193532:R367K	ENSP00000306782:R254K	R	+	2	0	PTPRC	196948783	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.616000	0.00881	-0.800000	0.04433	-1.051000	0.02340	AGA		0.323	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
NR5A2	2494	broad.mit.edu	37	1	199997008	199997008	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:199997008A>C	ENST00000367362.3	+	1	279	c.33A>C	c.(31-33)caA>caC	p.Q11H	NR5A2_ENST00000236914.3_Missense_Mutation_p.Q11H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	11					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q11H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGGATTTACAAGAGTCTTTAA	0.333																																					p.Q11H	Melanoma(179;1138 2773 15678 26136)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A33C	1						.						121.0	124.0	123.0					1																	199997008		2203	4300	6503	198263631	SO:0001583	missense	2494	exon1			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.33A>C	1.37:g.199997008A>C	ENSP00000356331:p.Gln11His	Somatic		Capture	Illumina HiSeq	Phase_I	198263631	NM_205860	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	A	9.570	1.120727	0.20877	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000537715;ENST00000542116	D;D	0.94537	-3.36;-3.45	5.93	0.652	0.17823	.	0.699809	0.12994	N	0.422202	D	0.85017	0.5601	N	0.24115	0.695	0.80722	D	1	P;B	0.44578	0.838;0.0	B;B	0.38562	0.276;0.0	T	0.76846	-0.2808	9	.	.	.	.	0.4179	0.00451	0.2132:0.1723:0.2765:0.3379	.	11;11	F1D8R9;O00482	.;NR5A2_HUMAN	H	11	ENSP00000356331:Q11H;ENSP00000236914:Q11H	.	Q	+	3	2	NR5A2	198263631	1.000000	0.71417	0.081000	0.20488	0.935000	0.57460	0.757000	0.26433	0.104000	0.17725	0.533000	0.62120	CAA		0.333	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
NR5A2	2494	broad.mit.edu	37	1	200014605	200014605	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200014605G>T	ENST00000367362.3	+	4	602	c.356G>T	c.(355-357)aGg>aTg	p.R119M	NR5A2_ENST00000236914.3_Missense_Mutation_p.R73M|NR5A2_ENST00000544748.1_Missense_Mutation_p.R47M	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	119					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R119M(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AATAATAAAAGGTACACATGT	0.338																																					p.R119M	Melanoma(179;1138 2773 15678 26136)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356T	1						.						97.0	99.0	98.0					1																	200014605		2203	4300	6503	198281228	SO:0001583	missense	2494	exon4			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.356G>T	1.37:g.200014605G>T	ENSP00000356331:p.Arg119Met	Somatic		Capture	Illumina HiSeq	Phase_I	198281228	NM_205860	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.882668|4.882668	0.91740|0.91740	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367357|ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.|D;D;D	.|0.97256	.|-4.31;-4.31;-4.31	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97349|0.97349	0.9133|0.9133	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|D;D	.|0.55385	.|0.971;0.971	.|P;P	.|0.56127	.|0.721;0.792	D|D	0.96691|0.96691	0.9511|0.9511	5|9	.|.	.|.	.|.	.|.	19.7485|19.7485	0.96259|0.96259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|73;119	.|F1D8R9;O00482	.|.;NR5A2_HUMAN	C|M	40|119;73;47;39	.|ENSP00000356331:R119M;ENSP00000236914:R73M;ENSP00000439116:R47M	.|.	G|R	+|+	1|2	0|0	NR5A2|NR5A2	198281228|198281228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.747000|9.747000	0.98863|0.98863	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.338	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
NR5A2	2494	broad.mit.edu	37	1	200143231	200143231	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200143231C>T	ENST00000367362.3	+	8	1765	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	NR5A2_ENST00000236914.3_Missense_Mutation_p.R461W|NR5A2_ENST00000544748.1_Missense_Mutation_p.R435W	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	507					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R507W(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACCCGAAATCCGGGCCATCAG	0.483																																					p.R507W	Melanoma(179;1138 2773 15678 26136)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1519T	1						.						65.0	57.0	60.0					1																	200143231		2203	4300	6503	198409854	SO:0001583	missense	2494	exon8			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1519C>T	1.37:g.200143231C>T	ENSP00000356331:p.Arg507Trp	Somatic		Capture	Illumina HiSeq	Phase_I	198409854	NM_205860	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112053	0.77210	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	T;T;T	0.61627	0.09;0.09;0.09	5.88	4.98	0.66077	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.056764	0.64402	N	0.000001	D	0.83774	0.5327	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89426	0.3713	9	.	.	.	.	14.9886	0.71368	0.0:0.932:0.0:0.068	.	461;507	F1D8R9;O00482	.;NR5A2_HUMAN	W	507;461;435	ENSP00000356331:R507W;ENSP00000236914:R461W;ENSP00000439116:R435W	.	R	+	1	2	NR5A2	198409854	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.993000	0.70616	1.495000	0.48549	0.650000	0.86243	CGG		0.483	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
ZNF281	23528	broad.mit.edu	37	1	200377891	200377891	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200377891T>A	ENST00000294740.3	-	2	1067	c.943A>T	c.(943-945)Aag>Tag	p.K315*	ZNF281_ENST00000367352.3_Nonsense_Mutation_p.K279*|ZNF281_ENST00000367353.1_Nonsense_Mutation_p.K315*	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	315					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.K315*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAAATGGCTTCTCTCTACTA	0.403																																					p.K315X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A943T	1						.						180.0	186.0	184.0					1																	200377891		2203	4300	6503	198644514	SO:0001587	stop_gained	23528	exon2			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.943A>T	1.37:g.200377891T>A	ENSP00000294740:p.Lys315*	Somatic		Capture	Illumina HiSeq	Phase_I	198644514	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Nonsense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	37	6.368849	0.97511	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8755	15.8694	0.79101	0.0:0.0:0.0:1.0	.	.	.	.	X	315;315;279;20	.	ENSP00000294740:K315X	K	-	1	0	ZNF281	198644514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.896000	0.87350	2.137000	0.66172	0.533000	0.62120	AAG		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
KIF14	9928	broad.mit.edu	37	1	200539107	200539107	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200539107C>A	ENST00000367350.4	-	23	4031	c.3593G>T	c.(3592-3594)aGa>aTa	p.R1198I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1198	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R1198I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ACCAGAAATTCTTCTGTTCTT	0.303																																					p.R1198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3593T	1						.						120.0	122.0	121.0					1																	200539107		2203	4300	6503	198805730	SO:0001583	missense	9928	exon23			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3593G>T	1.37:g.200539107C>A	ENSP00000356319:p.Arg1198Ile	Somatic		Capture	Illumina HiSeq	Phase_I	198805730	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916978	0.92249	.	.	ENSG00000118193	ENST00000367350	T	0.17370	2.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34502	-0.9826	10	0.87932	D	0	.	19.763	0.96332	0.0:1.0:0.0:0.0	.	1198	Q15058	KIF14_HUMAN	I	1198	ENSP00000356319:R1198I	ENSP00000356319:R1198I	R	-	2	0	KIF14	198805730	1.000000	0.71417	0.948000	0.38648	0.959000	0.62525	6.267000	0.72546	2.675000	0.91044	0.591000	0.81541	AGA		0.303	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200569231	200569231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200569231C>A	ENST00000367350.4	-	13	2749	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	771					ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.E771*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCAAACTTTTCTTTCCACACT	0.289																																					p.E771X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2311T	1						.						31.0	33.0	32.0					1																	200569231		2160	4271	6431	198835854	SO:0001587	stop_gained	9928	exon13			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2311G>T	1.37:g.200569231C>A	ENSP00000356319:p.Glu771*	Somatic		Capture	Illumina HiSeq	Phase_I	198835854	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Nonsense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	44	10.627060	0.99440	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.05	1.89	0.25635	.	0.456043	0.23981	N	0.042680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.346	0.38109	0.0:0.6512:0.2726:0.0762	.	.	.	.	X	771	.	ENSP00000356319:E771X	E	-	1	0	KIF14	198835854	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	1.617000	0.36943	0.498000	0.27948	0.557000	0.71058	GAA		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200583495	200583495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200583495C>A	ENST00000367350.4	-	4	1844	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	469	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R469I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCACAAAATCTTGGAATTAT	0.308																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	1						.						70.0	73.0	72.0					1																	200583495		2203	4299	6502	198850118	SO:0001583	missense	9928	exon4			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1406G>T	1.37:g.200583495C>A	ENSP00000356319:p.Arg469Ile	Somatic		Capture	Illumina HiSeq	Phase_I	198850118	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159710	0.94727	.	.	ENSG00000118193	ENST00000367350	T	0.75938	-0.98	5.72	5.72	0.89469	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93266	0.6647	10	0.72032	D	0.01	.	19.8654	0.96802	0.0:1.0:0.0:0.0	.	469	Q15058	KIF14_HUMAN	I	469	ENSP00000356319:R469I	ENSP00000356319:R469I	R	-	2	0	KIF14	198850118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.431000	0.66507	2.701000	0.92244	0.650000	0.86243	AGA		0.308	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF21B	23046	broad.mit.edu	37	1	200965425	200965425	+	Missense_Mutation	SNP	C	C	T	rs541186299		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200965425C>T	ENST00000422435.2	-	15	2492	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	KIF21B_ENST00000461742.2_Missense_Mutation_p.A726T|KIF21B_ENST00000360529.5_Missense_Mutation_p.A726T|KIF21B_ENST00000332129.2_Missense_Mutation_p.A726T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	726					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A726T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTGGGCGGCCTGCAGCTTC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18022	0.0		0.0	False		,,,				2504	0.001				p.A726T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2176A	1						.						159.0	155.0	156.0					1																	200965425		2203	4300	6503	199232048	SO:0001583	missense	23046	exon15			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2176G>A	1.37:g.200965425C>T	ENSP00000411831:p.Ala726Thr	Somatic		Capture	Illumina HiSeq	Phase_I	199232048	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206465	0.39003	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.83	4.83	0.62350	.	0.283023	0.33092	N	0.005300	T	0.13200	0.0320	L	0.35414	1.06	0.41757	D	0.989693	B;B;B;B	0.14012	0.009;0.001;0.001;0.004	B;B;B;B	0.10450	0.002;0.002;0.002;0.005	T	0.09596	-1.0667	10	0.17832	T	0.49	.	12.9352	0.58309	0.1625:0.8375:0.0:0.0	.	726;726;726;726	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	726	ENSP00000328494:A726T;ENSP00000353724:A726T;ENSP00000433808:A726T;ENSP00000411831:A726T	ENSP00000328494:A726T	A	-	1	0	KIF21B	199232048	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	1.150000	0.31639	2.227000	0.72691	0.555000	0.69702	GCC		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
KIF21B	23046	broad.mit.edu	37	1	200969856	200969856	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200969856G>A	ENST00000422435.2	-	10	1771	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	KIF21B_ENST00000461742.2_Silent_p.I485I|KIF21B_ENST00000360529.5_Silent_p.I485I|KIF21B_ENST00000332129.2_Silent_p.I485I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	485					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I485I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAGCTCCTCGATCTCCCGGA	0.632																																					p.I485I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	1						.						87.0	78.0	81.0					1																	200969856		2203	4300	6503	199236479	SO:0001819	synonymous_variant	23046	exon10			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1455C>T	1.37:g.200969856G>A		Somatic		Capture	Illumina HiSeq	Phase_I	199236479	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																				0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
LAD1	3898	broad.mit.edu	37	1	201351427	201351427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:201351427C>T	ENST00000391967.2	-	9	1802	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Missense_Mutation_p.E515K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	501						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.E501K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGAGTCCTCTCGGTTGCAGAT	0.602																																					p.E501K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1501A	1						.						209.0	171.0	184.0					1																	201351427		2203	4300	6503	199618050	SO:0001583	missense	3898	exon9			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1501G>A	1.37:g.201351427C>T	ENSP00000375829:p.Glu501Lys	Somatic		Capture	Illumina HiSeq	Phase_I	199618050	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	0.999	-0.691683	0.03303	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.34859	1.34;3.33;3.29	4.12	2.98	0.34508	.	1.095410	0.07103	N	0.840795	T	0.07818	0.0196	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	10	0.02654	T	1	-7.1064	6.2755	0.20979	0.0:0.115:0.0:0.885	.	501	O00515	LAD1_HUMAN	K	152;501;515	ENSP00000422687:E152K;ENSP00000375829:E501K;ENSP00000356282:E515K	ENSP00000356282:E515K	E	-	1	0	LAD1	199618050	0.096000	0.21769	0.365000	0.25901	0.021000	0.10359	1.778000	0.38614	0.745000	0.32763	-0.340000	0.08031	GAG		0.602	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558	
CSRP1	1465	broad.mit.edu	37	1	201458008	201458008	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:201458008G>A	ENST00000367306.1	-	5	749	c.386C>T	c.(385-387)gCg>gTg	p.A129V	CSRP1_ENST00000526723.1_Missense_Mutation_p.A96V|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000531916.1_Missense_Mutation_p.A129V|CSRP1_ENST00000533432.1_Missense_Mutation_p.A129V|CSRP1_ENST00000340006.2_Missense_Mutation_p.A129V|CSRP1_ENST00000532460.1_Missense_Mutation_p.A129V			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A129V(1)		large_intestine(3)|lung(2)|ovary(1)	6						CACCTTCTCCGCAGCATAGAC	0.557																																					p.A129V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	1						.						75.0	68.0	71.0					1																	201458008		2203	4300	6503	199724631	SO:0001583	missense	1465	exon4			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.386C>T	1.37:g.201458008G>A	ENSP00000356275:p.Ala129Val	Somatic		Capture	Illumina HiSeq	Phase_I	199724631	NM_001193572	A8K268|Q5U0J2	Missense_Mutation	SNP	ENST00000367306.1	37	CCDS1413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438526	0.96168	.	.	ENSG00000159176	ENST00000367306;ENST00000545649;ENST00000340006;ENST00000531916;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.53	5.53	0.82687	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.999	D;P;D	0.83275	0.996;0.875;0.981	T	0.80228	-0.1469	10	0.72032	D	0.01	-16.6121	19.4657	0.94939	0.0:0.0:1.0:0.0	.	129;129;129	B4E2T4;B4DY28;P21291	.;.;CSRP1_HUMAN	V	129;106;129;129;129;129;96;92	ENSP00000356275:A129V;ENSP00000345079:A129V;ENSP00000432110:A129V;ENSP00000434147:A129V;ENSP00000436792:A129V;ENSP00000436491:A96V;ENSP00000437218:A92V	ENSP00000345079:A129V	A	-	2	0	CSRP1	199724631	1.000000	0.71417	0.614000	0.29051	0.952000	0.60782	9.697000	0.98697	2.579000	0.87056	0.563000	0.77884	GCG		0.557	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078	
CSRP1	1465	broad.mit.edu	37	1	201459357	201459357	+	Silent	SNP	G	G	A	rs554244394		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:201459357G>A	ENST00000367306.1	-	4	591	c.228C>T	c.(226-228)ggC>ggT	p.G76G	CSRP1_ENST00000526723.1_Silent_p.G43G|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000531916.1_Silent_p.G76G|CSRP1_ENST00000533432.1_Silent_p.G76G|CSRP1_ENST00000340006.2_Silent_p.G76G|CSRP1_ENST00000532460.1_Silent_p.G76G			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	76	Gly-rich.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G76G(1)		large_intestine(3)|lung(2)|ovary(1)	6						GGGTGCCTGCGCCCTGCCCGT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19104	0.0		0.0	False		,,,				2504	0.0				p.G76G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228T	1						.						93.0	77.0	82.0					1																	201459357		2203	4300	6503	199725980	SO:0001819	synonymous_variant	1465	exon3			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.228C>T	1.37:g.201459357G>A		Somatic		Capture	Illumina HiSeq	Phase_I	199725980	NM_001193572	A8K268|Q5U0J2	Silent	SNP	ENST00000367306.1	37	CCDS1413.1																																																																																				0.567	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078	
NAV1	89796	broad.mit.edu	37	1	201752744	201752744	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:201752744C>A	ENST00000367296.4	+	7	2988	c.2568C>A	c.(2566-2568)ttC>ttA	p.F856L	NAV1_ENST00000367300.3_Missense_Mutation_p.F856L|NAV1_ENST00000367302.1_Missense_Mutation_p.F869L|NAV1_ENST00000295624.6_Missense_Mutation_p.F856L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.F465L|NAV1_ENST00000367297.4_Missense_Mutation_p.F856L|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	856					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.F856L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGCCAGCTTCTCCCAGGGCC	0.572																																					p.F465L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1395A	1						.						105.0	110.0	108.0					1																	201752744		2203	4300	6503	200019367	SO:0001583	missense	89796	exon5			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2568C>A	1.37:g.201752744C>A	ENSP00000356265:p.Phe856Leu	Somatic		Capture	Illumina HiSeq	Phase_I	200019367	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.816298|1.816298	0.32145|0.32145	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.05580|.	3.43;3.42;3.42;3.42;3.43;3.43|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.066346|.	0.64402|.	D|.	0.000009|.	T|T	0.35422|0.35422	0.0931|0.0931	N|N	0.05078|0.05078	-0.115|-0.115	0.45607|0.45607	D|D	0.998548|0.998548	P;D;P;D;P|.	0.58268|.	0.75;0.972;0.613;0.982;0.792|.	B;P;B;D;B|.	0.68943|.	0.301;0.488;0.284;0.961;0.269|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.02654|.	T|.	1|.	-36.2184|-36.2184	12.7298|12.7298	0.57191|0.57191	0.0:0.9194:0.0:0.0806|0.0:0.9194:0.0:0.0806	.|.	856;465;856;364;856|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	L|I	869;856;856;856;856;364;465|414	ENSP00000356271:F869L;ENSP00000356265:F856L;ENSP00000295624:F856L;ENSP00000356266:F856L;ENSP00000356269:F856L;ENSP00000356264:F465L|.	ENSP00000295624:F856L|.	F|L	+|+	3|1	2|0	NAV1|NAV1	200019367|200019367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.161000|4.161000	0.58170|0.58170	2.403000|2.403000	0.81681|0.81681	0.404000|0.404000	0.27445|0.27445	TTC|CTC		0.572	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
NAV1	89796	broad.mit.edu	37	1	201752852	201752852	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:201752852G>T	ENST00000367296.4	+	7	3096	c.2676G>T	c.(2674-2676)atG>atT	p.M892I	NAV1_ENST00000367300.3_Missense_Mutation_p.M892I|NAV1_ENST00000367302.1_Missense_Mutation_p.M905I|NAV1_ENST00000295624.6_Missense_Mutation_p.M892I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.M501I|NAV1_ENST00000367297.4_Missense_Mutation_p.M892I|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	892					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.M892I(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGATGCCAATGAGCCTCCCCA	0.597																																					p.M501I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1503T	1						.						61.0	61.0	61.0					1																	201752852		2203	4300	6503	200019475	SO:0001583	missense	89796	exon5			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2676G>T	1.37:g.201752852G>T	ENSP00000356265:p.Met892Ile	Somatic		Capture	Illumina HiSeq	Phase_I	200019475	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.924417|2.924417	0.52653|0.52653	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.07444	.|3.19;3.23;3.23;3.24;3.19;3.24	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.042705	.|0.85682	.|D	.|0.000000	.|T	.|0.10035	.|0.0246	L|L	0.31926|0.31926	0.97|0.97	0.39994|0.39994	D|D	0.975088|0.975088	.|B;B;B;B;P	.|0.42941	.|0.234;0.095;0.069;0.0;0.794	.|B;B;B;B;B	.|0.43052	.|0.061;0.034;0.039;0.0;0.406	.|T	.|0.03534	.|-1.1027	.|10	.|0.72032	.|D	.|0.01	-33.7932|-33.7932	14.2689|14.2689	0.66140|0.66140	0.0:0.1491:0.8509:0.0|0.0:0.1491:0.8509:0.0	.|.	.|892;501;892;400;892	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	X|I	450|905;892;892;892;892;400;501	.|ENSP00000356271:M905I;ENSP00000356265:M892I;ENSP00000295624:M892I;ENSP00000356266:M892I;ENSP00000356269:M892I;ENSP00000356264:M501I	.|ENSP00000295624:M892I	E|M	+|+	1|3	0|0	NAV1|NAV1	200019475|200019475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.650000|3.650000	0.54424|0.54424	2.562000|2.562000	0.86427|0.86427	0.404000|0.404000	0.27445|0.27445	GAG|ATG		0.597	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
GPR37L1	9283	broad.mit.edu	37	1	202097422	202097422	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:202097422A>T	ENST00000367282.5	+	2	1290	c.1184A>T	c.(1183-1185)gAc>gTc	p.D395V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	395					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.D395V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAGACCCTGGACCTCCTGGGC	0.637																																					p.D395V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1184T	1						.						122.0	112.0	115.0					1																	202097422		2203	4300	6503	200364045	SO:0001583	missense	9283	exon2			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1184A>T	1.37:g.202097422A>T	ENSP00000356251:p.Asp395Val	Somatic		Capture	Illumina HiSeq	Phase_I	200364045	NM_004767	B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293354	0.60086	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.72615	-0.67	5.18	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.380247	0.29473	N	0.012049	T	0.59307	0.2184	L	0.46157	1.445	0.80722	D	1	B	0.34255	0.445	B	0.32393	0.145	T	0.51044	-0.8755	10	0.33141	T	0.24	-37.3471	9.4539	0.38743	0.8549:0.0:0.1451:0.0	.	395	O60883	ETBR2_HUMAN	V	262;395	ENSP00000356251:D395V	ENSP00000356251:D395V	D	+	2	0	GPR37L1	200364045	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.041000	0.49807	0.311000	0.23014	0.459000	0.35465	GAC		0.637	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767	
OTUD3	23252	broad.mit.edu	37	1	20231475	20231475	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:20231475G>T	ENST00000375120.3	+	6	831	c.830G>T	c.(829-831)aGa>aTa	p.R277I		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	277					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.R277I(2)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGAAGAGAAATAGTAAG	0.323																																					p.R277I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G830T	1						.						61.0	62.0	61.0					1																	20231475		1809	4066	5875	20104062	SO:0001583	missense	23252	exon6			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.830G>T	1.37:g.20231475G>T	ENSP00000364261:p.Arg277Ile	Somatic		Capture	Illumina HiSeq	Phase_I	20104062	NM_015207	O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810203	0.16537	.	.	ENSG00000169914	ENST00000375120	T	0.23348	1.91	6.06	3.24	0.37175	.	0.536286	0.21772	N	0.069352	T	0.16557	0.0398	L	0.29908	0.895	0.47547	D	0.999453	B	0.06786	0.001	B	0.04013	0.001	T	0.06092	-1.0846	10	0.37606	T	0.19	.	6.6683	0.23054	0.147:0.0:0.7088:0.1442	.	277	Q5T2D3	OTUD3_HUMAN	I	277	ENSP00000364261:R277I	ENSP00000364261:R277I	R	+	2	0	OTUD3	20104062	1.000000	0.71417	0.964000	0.40570	0.178000	0.23041	2.321000	0.43805	0.476000	0.27440	-0.746000	0.03513	AGA		0.323	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		
SYT2	127833	broad.mit.edu	37	1	202573647	202573647	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:202573647T>C	ENST00000367267.1	-	3	473	c.281A>G	c.(280-282)aAc>aGc	p.N94S	SYT2_ENST00000367268.4_Missense_Mutation_p.N94S|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	94					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttctt	0.537																																					p.N94S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281G	1						.						197.0	155.0	169.0					1																	202573647		2203	4300	6503	200840270	SO:0001583	missense	127833	exon3			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.281A>G	1.37:g.202573647T>C	ENSP00000356236:p.Asn94Ser	Somatic		Capture	Illumina HiSeq	Phase_I	200840270	NM_001136504	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377679	0.24944	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.40476	1.03;1.03	5.01	3.88	0.44766	.	0.284223	0.37437	N	0.002095	T	0.18718	0.0449	N	0.08118	0	0.38164	D	0.939113	B	0.32693	0.38	B	0.26202	0.067	T	0.10613	-1.0622	10	0.25106	T	0.35	.	7.8607	0.29507	0.0:0.1641:0.0:0.8359	.	94	Q8N9I0	SYT2_HUMAN	S	94	ENSP00000356237:N94S;ENSP00000356236:N94S	ENSP00000356236:N94S	N	-	2	0	SYT2	200840270	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.354000	0.52254	0.868000	0.35678	0.448000	0.29417	AAC		0.537	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
ADORA1	134	broad.mit.edu	37	1	203134602	203134602	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203134602C>A	ENST00000367236.4	+	3	1476	c.555C>A	c.(553-555)ttC>ttA	p.F185L	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.F185L|ADORA1_ENST00000309502.3_Missense_Mutation_p.F185L	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	185					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.F185L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	ACTTCAACTTCTTTGTGTGGG	0.572																																					p.F185L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C555A	1						.						173.0	176.0	175.0					1																	203134602		2203	4300	6503	201401225	SO:0001583	missense	134	exon4			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.555C>A	1.37:g.203134602C>A	ENSP00000356205:p.Phe185Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201401225	NM_000674	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361112	0.82353	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.69926	-0.44;-0.44;-0.44	5.18	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.932;0.999;0.988	T	0.67373	-0.5687	10	0.24483	T	0.36	-45.826	11.1022	0.48182	0.0:0.8525:0.0:0.1475	.	218;117;185	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	L	185	ENSP00000308549:F185L;ENSP00000356205:F185L;ENSP00000338435:F185L	ENSP00000308549:F185L	F	+	3	2	ADORA1	201401225	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.571000	0.45990	2.586000	0.87340	0.561000	0.74099	TTC		0.572	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	
ADORA1	134	broad.mit.edu	37	1	203134847	203134847	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203134847G>T	ENST00000367236.4	+	3	1721	c.800G>T	c.(799-801)aGc>aTc	p.S267I	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.S267I|ADORA1_ENST00000309502.3_Missense_Mutation_p.S267I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	267					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.S267I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CACAAGCCCAGCATCCTTACC	0.567																																					p.S267I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800T	1						.						261.0	186.0	212.0					1																	203134847		2203	4300	6503	201401470	SO:0001583	missense	134	exon4			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.800G>T	1.37:g.203134847G>T	ENSP00000356205:p.Ser267Ile	Somatic		Capture	Illumina HiSeq	Phase_I	201401470	NM_000674	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539152	0.27475	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.72725	-0.68;-0.68;-0.68	5.64	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.517698	0.24945	N	0.034356	T	0.60560	0.2278	L	0.58510	1.815	0.09310	N	1	B;B;B	0.20459	0.045;0.038;0.002	B;B;B	0.23716	0.029;0.048;0.007	T	0.52873	-0.8517	10	0.41790	T	0.15	-23.2672	2.9042	0.05715	0.1523:0.2616:0.4516:0.1345	.	300;199;267	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	I	267	ENSP00000308549:S267I;ENSP00000356205:S267I;ENSP00000338435:S267I	ENSP00000308549:S267I	S	+	2	0	ADORA1	201401470	0.594000	0.26849	0.717000	0.30585	0.999000	0.98932	0.688000	0.25422	0.274000	0.22072	0.655000	0.94253	AGC		0.567	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	
CHIT1	1118	broad.mit.edu	37	1	203194799	203194799	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203194799C>A	ENST00000367229.1	-	3	289	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K85N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K95N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	85					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.K85N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGCTCACATCTTCTTCAGGC	0.572																																					p.K85N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G255T	1						.						105.0	99.0	101.0					1																	203194799		2203	4300	6503	201461422	SO:0001583	missense	1118	exon3			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.255G>T	1.37:g.203194799C>A	ENSP00000356198:p.Lys85Asn	Somatic		Capture	Illumina HiSeq	Phase_I	201461422	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	4.975	0.181181	0.09443	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06849	3.25;3.25;3.25	4.98	-1.0	0.10196	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.936623	0.08811	N	0.890250	T	0.07279	0.0184	L	0.53671	1.685	0.09310	N	1	B;B	0.16802	0.002;0.019	B;B	0.21546	0.003;0.035	T	0.47761	-0.9092	10	0.12430	T	0.62	-0.5868	3.3681	0.07211	0.1219:0.2427:0.4592:0.1762	.	95;85	G5EA51;Q13231	.;CHIT1_HUMAN	N	85;85;95	ENSP00000356198:K85N;ENSP00000255427:K85N;ENSP00000438078:K95N	ENSP00000255427:K85N	K	-	3	2	CHIT1	201461422	0.005000	0.15991	0.003000	0.11579	0.909000	0.53808	-0.021000	0.12504	-0.135000	0.11495	0.655000	0.94253	AAG		0.572	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
OPTC	26254	broad.mit.edu	37	1	203466178	203466178	+	Missense_Mutation	SNP	C	C	T	rs114751507		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203466178C>T	ENST00000367222.2	+	3	421	c.305C>T	c.(304-306)tCg>tTg	p.S102L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	102	Ser/Thr-rich.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.S102L(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGACACCCTCGTCAAACCCC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20856	0.0		0.0	False		,,,				2504	0.0				p.S102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C305T	1						.						132.0	106.0	115.0					1																	203466178		2203	4300	6503	201732801	SO:0001583	missense	26254	exon3			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.305C>T	1.37:g.203466178C>T	ENSP00000356191:p.Ser102Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201732801	NM_014359	Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.31	2.498355	0.44455	.	.	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.57436	0.53;0.4	4.4	1.31	0.21738	.	0.740843	0.11983	N	0.510556	T	0.38931	0.1059	L	0.46157	1.445	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.22243	-1.0222	10	0.27785	T	0.31	-3.1729	4.1439	0.10207	0.0:0.5945:0.1934:0.212	.	102	Q9UBM4	OPT_HUMAN	L	102	ENSP00000356191:S102L;ENSP00000399491:S102L	ENSP00000356191:S102L	S	+	2	0	OPTC	201732801	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.138000	0.16016	0.620000	0.30215	0.561000	0.74099	TCG		0.557	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	
ATP2B4	493	broad.mit.edu	37	1	203652493	203652493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203652493C>A	ENST00000357681.5	+	2	1283	c.160C>A	c.(160-162)Ctc>Atc	p.L54I	ATP2B4_ENST00000341360.2_Missense_Mutation_p.L54I|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L54I|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L54I|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L54I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	54					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.L54I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACAGAATCTCTGCAGTAG	0.488																																					p.L54I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C160A	1						.						125.0	113.0	117.0					1																	203652493		2203	4300	6503	201919116	SO:0001583	missense	493	exon2			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.160C>A	1.37:g.203652493C>A	ENSP00000350310:p.Leu54Ile	Somatic		Capture	Illumina HiSeq	Phase_I	201919116	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394543	0.42512	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.93	-3.03	0.05429	ATPase, P-type cation-transporter, N-terminal (2);	0.612090	0.14666	N	0.305662	T	0.69788	0.3150	L	0.37850	1.14	0.21627	N	0.999619	B;B;B	0.21147	0.002;0.052;0.002	B;B;B	0.30179	0.016;0.112;0.01	T	0.56547	-0.7961	10	0.23302	T	0.38	-10.5565	12.3962	0.55386	0.7569:0.1741:0.0:0.069	.	54;54;54	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	I	54	ENSP00000350310:L54I;ENSP00000356187:L54I;ENSP00000356188:L54I;ENSP00000375816:L54I;ENSP00000340930:L54I	ENSP00000340930:L54I	L	+	1	0	ATP2B4	201919116	0.014000	0.17966	0.016000	0.15963	0.964000	0.63967	0.166000	0.16583	-0.467000	0.06932	-0.181000	0.13052	CTC		0.488	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
ATP2B4	493	broad.mit.edu	37	1	203676264	203676264	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203676264C>A	ENST00000357681.5	+	9	2350	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	ATP2B4_ENST00000341360.2_Missense_Mutation_p.F409L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.F397L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F409L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.F409L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	409					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.F409L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTCAAGTTCTTCATCATCG	0.488																																					p.F409L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1227A	1						.						162.0	126.0	138.0					1																	203676264		2203	4300	6503	201942887	SO:0001583	missense	493	exon9			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1227C>A	1.37:g.203676264C>A	ENSP00000350310:p.Phe409Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201942887	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807988	0.90707	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	6.17	6.17	0.99709	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.53938	D	0.000050	D	0.91264	0.7246	L	0.45137	1.4	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.985	D;D;D	0.78314	0.991;0.95;0.977	D	0.90587	0.4534	10	0.59425	D	0.04	-29.6037	10.7764	0.46353	0.0:0.8596:0.0:0.1404	.	409;409;409	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	409;409;397;409;409	ENSP00000350310:F409L;ENSP00000356187:F409L;ENSP00000356188:F397L;ENSP00000375816:F409L;ENSP00000340930:F409L	ENSP00000340930:F409L	F	+	3	2	ATP2B4	201942887	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.340000	0.52143	2.941000	0.99782	0.655000	0.94253	TTC		0.488	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
LAX1	54900	broad.mit.edu	37	1	203743596	203743596	+	Silent	SNP	C	C	T	rs139151494		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203743596C>T	ENST00000442561.2	+	5	1374	c.984C>T	c.(982-984)ccC>ccT	p.P328P	LAX1_ENST00000367217.5_Silent_p.P312P|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	328					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.P328P(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGATGATCCCGGGACCCATG	0.483																																					p.P328P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C984T	1						.	C	,	0,4406		0,0,2203	121.0	109.0	113.0		936,984	-0.1	0.0	1	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	LAX1	NM_001136190.1,NM_017773.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	312/383,328/399	203743596	3,13003	2203	4300	6503	202010219	SO:0001819	synonymous_variant	54900	exon5			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.984C>T	1.37:g.203743596C>T		Somatic		Capture	Illumina HiSeq	Phase_I	202010219	NM_017773	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Silent	SNP	ENST00000442561.2	37	CCDS1441.2																																																																																				0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773	
ZC3H11A	9877	broad.mit.edu	37	1	203816515	203816515	+	Missense_Mutation	SNP	C	C	T	rs4019824		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203816515C>T	ENST00000545588.1	+	12	5073	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R416W|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R416W|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R416W|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R416W	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	416					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R416W(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAAAAACATCGGCAGCAGGA	0.398																																					p.R416W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1246T	1						.						59.0	62.0	61.0					1																	203816515		2203	4299	6502	202083138	SO:0001583	missense	9877	exon15				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1246C>T	1.37:g.203816515C>T	ENSP00000438527:p.Arg416Trp	Somatic		Capture	Illumina HiSeq	Phase_I	202083138	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780344	0.49891	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.65	5.65	0.86999	.	0.050249	0.85682	D	0.000000	T	0.47563	0.1452	L	0.45581	1.43	0.47737	D	0.999506	B	0.21606	0.058	B	0.14023	0.01	T	0.45454	-0.9260	10	0.87932	D	0	-19.6218	14.0691	0.64849	0.1514:0.8486:0.0:0.0	.	416	O75152	ZC11A_HUMAN	W	416;416;362;416;416;416;416	ENSP00000356183:R416W;ENSP00000356181:R416W;ENSP00000333253:R416W;ENSP00000438527:R416W;ENSP00000356179:R416W	ENSP00000333253:R416W	R	+	1	2	ZC3H11A	202083138	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	3.119000	0.50422	2.666000	0.90696	0.650000	0.86243	CGG		0.398	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
MDM4	4194	broad.mit.edu	37	1	204518448	204518448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:204518448G>A	ENST00000367182.3	+	11	1273	c.1111G>A	c.(1111-1113)Gtt>Att	p.V371I	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.V321I|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Missense_Mutation_p.V45I|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	371					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|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)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.V371I(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCTCCTGTCGTTAGACCTAA	0.418			A		"""GBM, bladder, retinoblastoma"""																																p.V371I			Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111A	1						.						129.0	128.0	128.0					1																	204518448		2203	4300	6503	202785071	SO:0001583	missense	4194	exon11			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.1111G>A	1.37:g.204518448G>A	ENSP00000356150:p.Val371Ile	Somatic		Capture	Illumina HiSeq	Phase_I	202785071	NM_002393	Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345595	0.61073	.	.	ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367183;ENST00000444261	T;T;T;T	0.44881	1.52;1.52;0.91;0.91	6.17	6.17	0.99709	.	0.106892	0.64402	D	0.000004	T	0.54271	0.1848	L	0.41824	1.3	0.80722	D	1	D;P	0.89917	1.0;0.874	P;B	0.60068	0.868;0.134	T	0.31024	-0.9958	10	0.29301	T	0.29	-20.8584	20.4745	0.99168	0.0:0.0:1.0:0.0	.	371;321	O15151;Q2M2Y2	MDM4_HUMAN;.	I	371;321;45;149	ENSP00000356150:V371I;ENSP00000396840:V321I;ENSP00000356151:V45I;ENSP00000395254:V149I	ENSP00000356150:V371I	V	+	1	0	MDM4	202785071	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.361000	0.59461	2.941000	0.99782	0.655000	0.94253	GTT		0.418	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393	
NFASC	23114	broad.mit.edu	37	1	204923458	204923458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:204923458G>A	ENST00000401399.1	+	5	557	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	NFASC_ENST00000338515.6_Missense_Mutation_p.A120T|NFASC_ENST00000404907.1_Missense_Mutation_p.A114T|NFASC_ENST00000367171.4_Missense_Mutation_p.A120T|NFASC_ENST00000338586.6_Missense_Mutation_p.A120T|NFASC_ENST00000403080.1_Missense_Mutation_p.A120T|NFASC_ENST00000360049.4_Missense_Mutation_p.A114T|NFASC_ENST00000367170.4_Missense_Mutation_p.A120T|NFASC_ENST00000367169.4_Missense_Mutation_p.A120T|NFASC_ENST00000404076.1_Missense_Mutation_p.A114T|NFASC_ENST00000367172.4_Missense_Mutation_p.A120T|NFASC_ENST00000339876.6_Missense_Mutation_p.A120T|NFASC_ENST00000513543.1_Missense_Mutation_p.A114T|NFASC_ENST00000539706.1_Missense_Mutation_p.A114T			O94856	NFASC_HUMAN	neurofascin	120	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.A120T(1)|p.A114T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGTGCTTCGCCCGCAACAA	0.607																																					p.A114T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G340A	1						.						47.0	51.0	50.0					1																	204923458		2203	4300	6503	203190081	SO:0001583	missense	23114	exon3			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.358G>A	1.37:g.204923458G>A	ENSP00000385637:p.Ala120Thr	Somatic		Capture	Illumina HiSeq	Phase_I	203190081	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	36	5.907237	0.97093	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000056	D	0.93003	0.7773	H	0.98238	4.18	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	0.97110	1.0;0.999;1.0;0.999;0.999;0.999	D	0.95459	0.8541	10	0.87932	D	0	.	18.6966	0.91603	0.0:0.0:1.0:0.0	.	114;114;216;120;114;120	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	T	120;120;120;120;120;120;114;114;114;120;120;120;114;120;120;114;114;90	ENSP00000356140:A120T;ENSP00000356139:A120T;ENSP00000356138:A120T;ENSP00000342128:A120T;ENSP00000344786:A120T;ENSP00000343509:A120T;ENSP00000438614:A114T;ENSP00000353154:A114T;ENSP00000356137:A120T;ENSP00000412161:A120T;ENSP00000384875:A120T;ENSP00000385676:A114T;ENSP00000385637:A120T;ENSP00000427586:A120T;ENSP00000384061:A114T;ENSP00000425908:A114T;ENSP00000415031:A90T	ENSP00000295776:A114T	A	+	1	0	NFASC	203190081	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	9.728000	0.98792	2.516000	0.84829	0.655000	0.94253	GCC		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
CNTN2	6900	broad.mit.edu	37	1	205033838	205033838	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:205033838C>A	ENST00000331830.4	+	12	1763	c.1479C>A	c.(1477-1479)ttC>ttA	p.F493L	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	493	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.F493L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGAGAACTTCATGGGCAAAG	0.547																																					p.F493L	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1479A	1						.						165.0	147.0	153.0					1																	205033838		2203	4300	6503	203300461	SO:0001583	missense	6900	exon12			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1479C>A	1.37:g.205033838C>A	ENSP00000330633:p.Phe493Leu	Somatic		Capture	Illumina HiSeq	Phase_I	203300461	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921294	0.33908	.	.	ENSG00000184144	ENST00000331830	T	0.65916	-0.18	5.58	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.221621	0.31847	N	0.006966	T	0.35158	0.0922	N	0.02685	-0.53	0.40332	D	0.978934	B;B	0.23990	0.066;0.095	B;B	0.29077	0.098;0.063	T	0.19095	-1.0316	10	0.17369	T	0.5	.	9.0429	0.36329	0.1463:0.779:0.0:0.0747	.	493;384	Q02246;Q68DA2	CNTN2_HUMAN;.	L	493	ENSP00000330633:F493L	ENSP00000330633:F493L	F	+	3	2	CNTN2	203300461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.649000	0.54417	1.373000	0.46208	0.561000	0.74099	TTC		0.547	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
RBBP5	5929	broad.mit.edu	37	1	205065966	205065966	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:205065966T>G	ENST00000264515.6	-	12	1381	c.1240A>C	c.(1240-1242)Aat>Cat	p.N414H	RBBP5_ENST00000367164.1_Missense_Mutation_p.N414H	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	414					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.N414H(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCGTAAGGATTTTCTTCTGGG	0.512																																					p.N414H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1240C	1						.						107.0	115.0	112.0					1																	205065966		2203	4300	6503	203332589	SO:0001583	missense	5929	exon12			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1240A>C	1.37:g.205065966T>G	ENSP00000264515:p.Asn414His	Somatic		Capture	Illumina HiSeq	Phase_I	203332589	NM_005057	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975671	0.74360	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60171	0.21;0.23	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	L	0.58810	1.83	0.80722	D	1	D;P;P;P	0.54601	0.967;0.944;0.911;0.944	P;P;P;P	0.52217	0.693;0.496;0.66;0.598	T	0.66783	-0.5836	10	0.48119	T	0.1	.	15.7462	0.77944	0.0:0.0:0.0:1.0	.	287;449;414;414	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	H	414	ENSP00000264515:N414H;ENSP00000356132:N414H	ENSP00000264515:N414H	N	-	1	0	RBBP5	203332589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.699000	0.84547	2.199000	0.70637	0.528000	0.53228	AAT		0.512	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
NUAK2	81788	broad.mit.edu	37	1	205272953	205272953	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:205272953G>T	ENST00000367157.3	-	7	1638	c.1512C>A	c.(1510-1512)ctC>ctA	p.L504L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.L504L(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACTTGCCATTGAGTTTGAGGA	0.642																																					p.L504L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512A	1						.						50.0	55.0	53.0					1																	205272953		2203	4300	6503	203539576	SO:0001819	synonymous_variant	81788	exon7			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1512C>A	1.37:g.205272953G>T		Somatic		Capture	Illumina HiSeq	Phase_I	203539576	NM_030952		Silent	SNP	ENST00000367157.3	37	CCDS1453.1																																																																																				0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	
RAB29	8934	broad.mit.edu	37	1	205739491	205739491	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:205739491G>T	ENST00000367139.3	-	6	894	c.591C>A	c.(589-591)tcC>tcA	p.S197S	RAB7L1_ENST00000235932.4_Silent_p.S197S|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Silent_p.S125S|RAB7L1_ENST00000414729.1_Silent_p.S197S|RAB7L1_ENST00000446390.2_Silent_p.S173S	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		197					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S197S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACCAGCTGGAGGACTTGGTTT	0.433																																					p.S197S	Pancreas(25;658 872 27763 34889 38531)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591A	1						.						125.0	121.0	123.0					1																	205739491		2203	4300	6503	204006114	SO:0001819	synonymous_variant	8934	exon6																														ENST00000367139.3:c.591C>A	1.37:g.205739491G>T		Somatic		Capture	Illumina HiSeq	Phase_I	204006114	NM_001135662	B4E1K3|C9JE77	Silent	SNP	ENST00000367139.3	37	CCDS1459.1																																																																																				0.433	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1		
SLC41A1	254428	broad.mit.edu	37	1	205779256	205779256	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:205779256G>T	ENST00000367137.3	-	2	1328	c.314C>A	c.(313-315)cCa>cAa	p.P105Q		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	105					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.P105Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAGGAGGAATGGAAACAGTAC	0.602																																					p.P105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314A	1						.						123.0	114.0	117.0					1																	205779256		2203	4300	6503	204045879	SO:0001583	missense	254428	exon2			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.314C>A	1.37:g.205779256G>T	ENSP00000356105:p.Pro105Gln	Somatic		Capture	Illumina HiSeq	Phase_I	204045879	NM_173854	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145179	0.94603	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65869	-0.6063	10	0.72032	D	0.01	-23.3161	19.2866	0.94077	0.0:0.0:1.0:0.0	.	105	Q8IVJ1	S41A1_HUMAN	Q	105	ENSP00000356105:P105Q	ENSP00000356105:P105Q	P	-	2	0	SLC41A1	204045879	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.665000	0.98609	2.658000	0.90341	0.550000	0.68814	CCA		0.602	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1		
AVPR1B	553	broad.mit.edu	37	1	206225064	206225064	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:206225064C>T	ENST00000367126.4	+	1	1089	c.624C>T	c.(622-624)ttC>ttT	p.F208F	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	208					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.F208F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTATCTTCGTTCTGCCGG	0.612																																					p.F208F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624T	1						.						57.0	55.0	56.0					1																	206225064		2202	4300	6502	204391687	SO:0001819	synonymous_variant	553	exon1			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.624C>T	1.37:g.206225064C>T		Somatic		Capture	Illumina HiSeq	Phase_I	204391687	NM_000707	B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	CCDS30994.1																																																																																				0.612	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707	
DYRK3	8444	broad.mit.edu	37	1	206821877	206821877	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:206821877C>T	ENST00000367109.2	+	3	1502	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	DYRK3_ENST00000367108.3_Missense_Mutation_p.S425F|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.S425F	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.S445F(1)|p.S410F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTATTAATTCCAAGGGCATA	0.547																																					p.S445F	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1334T	1						.						132.0	145.0	141.0					1																	206821877		2203	4300	6503	204888500	SO:0001583	missense	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1334C>T	1.37:g.206821877C>T	ENSP00000356076:p.Ser445Phe	Somatic		Capture	Illumina HiSeq	Phase_I	204888500	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878206	0.51801	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20069	2.1;2.1;2.1	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049446	0.85682	D	0.000000	T	0.36991	0.0987	L	0.56124	1.755	0.80722	D	1	P;P	0.47604	0.898;0.892	P;B	0.53722	0.733;0.411	T	0.04870	-1.0921	10	0.87932	D	0	.	18.1352	0.89617	0.0:1.0:0.0:0.0	.	445;425	O43781;O43781-2	DYRK3_HUMAN;.	F	445;425;425	ENSP00000356076:S445F;ENSP00000356075:S425F;ENSP00000356073:S425F	ENSP00000356073:S425F	S	+	2	0	DYRK3	204888500	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	7.651000	0.83577	2.765000	0.95021	0.555000	0.69702	TCC		0.547	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
DYRK3	8444	broad.mit.edu	37	1	206821966	206821966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:206821966C>T	ENST00000367109.2	+	3	1591	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	DYRK3_ENST00000367108.3_Missense_Mutation_p.R455W|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.R455W	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R440W(1)|p.R475W(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGGTAAAAAGCGGGGTCCCCC	0.537																																					p.R475W	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1423T	1						.						85.0	97.0	93.0					1																	206821966		2203	4300	6503	204888589	SO:0001583	missense	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1423C>T	1.37:g.206821966C>T	ENSP00000356076:p.Arg475Trp	Somatic		Capture	Illumina HiSeq	Phase_I	204888589	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377007	0.61735	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.71579	-0.58;-0.57;-0.57	5.31	4.38	0.52667	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	D	0.84070	0.5391	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86659	0.1903	10	0.87932	D	0	.	14.4261	0.67218	0.1483:0.8517:0.0:0.0	.	475;455	O43781;O43781-2	DYRK3_HUMAN;.	W	475;455;455	ENSP00000356076:R475W;ENSP00000356075:R455W;ENSP00000356073:R455W	ENSP00000356073:R455W	R	+	1	2	DYRK3	204888589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.360000	0.44151	1.431000	0.47355	0.555000	0.69702	CGG		0.537	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
IL20	50604	broad.mit.edu	37	1	207039238	207039238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207039238C>T	ENST00000367098.1	+	2	404	c.41C>T	c.(40-42)gCg>gTg	p.A14V	IL20_ENST00000367096.3_Missense_Mutation_p.A14V|IL20_ENST00000391930.2_Missense_Mutation_p.A14V			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.A14V(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CTCTCTGCTGCGTTTTATCTC	0.453																																					p.A14V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41T	1						.						142.0	131.0	135.0					1																	207039238		2203	4300	6503	205105861	SO:0001583	missense	50604	exon1			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.41C>T	1.37:g.207039238C>T	ENSP00000356065:p.Ala14Val	Somatic		Capture	Illumina HiSeq	Phase_I	205105861	NM_018724	Q14CE5	Missense_Mutation	SNP	ENST00000367098.1	37	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838819	0.00573	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.33216	1.42;1.42;2.42	4.5	0.946	0.19549	.	0.640672	0.15183	N	0.276003	T	0.08088	0.0202	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37572	-0.9700	10	0.02654	T	1	-3.1098	6.1297	0.20199	0.0:0.3341:0.0:0.6659	.	14;14	Q2THG6;Q9NYY1	.;IL20_HUMAN	V	14	ENSP00000356065:A14V;ENSP00000356063:A14V;ENSP00000375796:A14V	ENSP00000356063:A14V	A	+	2	0	IL20	205105861	0.000000	0.05858	0.004000	0.12327	0.120000	0.20174	-0.691000	0.05133	-0.000000	0.14550	-0.302000	0.09304	GCG		0.453	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	
FAIM3	9214	broad.mit.edu	37	1	207087316	207087316	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207087316C>T	ENST00000367091.3	-	2	304	c.161G>A	c.(160-162)gGa>gAa	p.G54E	FAIM3_ENST00000420007.2_Missense_Mutation_p.G54E|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	54	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.G54E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTTCCAGATCCAGCCATCTC	0.507																																					p.G54E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	1						.						180.0	158.0	166.0					1																	207087316		2203	4300	6503	205153939	SO:0001583	missense	9214	exon2			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.161G>A	1.37:g.207087316C>T	ENSP00000356058:p.Gly54Glu	Somatic		Capture	Illumina HiSeq	Phase_I	205153939	NM_001193338	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	0.313	-0.966793	0.02232	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	5.28	-10.6	0.00265	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.947050	0.00944	N	0.002869	T	0.02727	0.0082	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	10	0.02654	T	1	4.8789	4.352	0.11160	0.0862:0.4166:0.211:0.2861	.	54	O60667	FAIM3_HUMAN	E	54;54;54;54;85	ENSP00000356058:G54E;ENSP00000403356:G54E;ENSP00000432936:G54E;ENSP00000437331:G54E;ENSP00000436316:G85E	ENSP00000356058:G54E	G	-	2	0	FAIM3	205153939	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.049000	0.00629	-1.341000	0.02225	-2.884000	0.00097	GGA		0.507	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449	
PIGR	5284	broad.mit.edu	37	1	207110578	207110578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207110578C>T	ENST00000356495.4	-	4	1090	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	303	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.D303N(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCATCCTTGTCCTGGGGGTTG	0.602																																					p.D303N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G907A	1						.						80.0	75.0	77.0					1																	207110578		2203	4300	6503	205177201	SO:0001583	missense	5284	exon4				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.907G>A	1.37:g.207110578C>T	ENSP00000348888:p.Asp303Asn	Somatic		Capture	Illumina HiSeq	Phase_I	205177201	NM_002644	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495603	0.12762	.	.	ENSG00000162896	ENST00000356495	T	0.64618	-0.11	5.38	0.279	0.15677	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.048650	0.07383	N	0.887700	T	0.42063	0.1186	N	0.12746	0.255	0.09310	N	1	B	0.15141	0.012	B	0.20384	0.029	T	0.25222	-1.0138	10	0.17832	T	0.49	-6.054	9.4889	0.38946	0.0:0.6486:0.0:0.3514	.	303	P01833	PIGR_HUMAN	N	303	ENSP00000348888:D303N	ENSP00000348888:D303N	D	-	1	0	PIGR	205177201	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.672000	0.01952	-0.119000	0.11830	0.650000	0.86243	GAC		0.602	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
CR2	1380	broad.mit.edu	37	1	207648534	207648534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207648534C>T	ENST00000367058.3	+	13	2701	c.2512C>T	c.(2512-2514)Cca>Tca	p.P838S	CR2_ENST00000458541.2_Missense_Mutation_p.P811S|CR2_ENST00000367059.3_Missense_Mutation_p.P838S|CR2_ENST00000367057.3_Missense_Mutation_p.P897S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	838	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.P897S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACATGGGTGCCAGGTGTGCC	0.403																																					p.P897S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2689T	1						.						144.0	134.0	138.0					1																	207648534		2203	4300	6503	205715157	SO:0001583	missense	1380	exon14			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2512C>T	1.37:g.207648534C>T	ENSP00000356025:p.Pro838Ser	Somatic		Capture	Illumina HiSeq	Phase_I	205715157	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439203	0.63067	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.69	4.69	0.59074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73281	0.3567	M	0.69823	2.125	0.43724	D	0.996206	D;P;D	0.62365	0.991;0.873;0.969	P;B;P	0.61397	0.888;0.342;0.728	T	0.70360	-0.4893	9	0.26408	T	0.33	.	13.8219	0.63325	0.0:1.0:0.0:0.0	.	838;838;897	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	S	838;897;838;811	ENSP00000356025:P838S;ENSP00000356024:P897S;ENSP00000356026:P838S;ENSP00000404222:P811S	ENSP00000356024:P897S	P	+	1	0	CR2	205715157	0.938000	0.31826	0.991000	0.47740	0.887000	0.51463	3.797000	0.55514	2.543000	0.85770	0.650000	0.86243	CCA		0.403	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1	1378	broad.mit.edu	37	1	207741173	207741173	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207741173C>A	ENST00000367049.4	+	25	3957	c.3957C>A	c.(3955-3957)atC>atA	p.I1319I	CR1_ENST00000400960.2_Silent_p.I869I|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Silent_p.I869I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.I869I|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	869	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.I1319I(1)|p.I874I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTAGAAATCTTTTGTCCAA	0.408																																					p.I1319I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3957A	1						.						103.0	112.0	109.0					1																	207741173		1784	4087	5871	205807796	SO:0001819	synonymous_variant	1378	exon25			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3957C>A	1.37:g.207741173C>A		Somatic		Capture	Illumina HiSeq	Phase_I	205807796	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
CR1L	1379	broad.mit.edu	37	1	207872589	207872589	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207872589C>A	ENST00000508064.2	+	8	1258	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	400	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.L400I(1)|p.L408I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATGGAAAGCCTTTGGAATAG	0.418											OREG0014195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L400I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1198A	1						.						254.0	228.0	236.0					1																	207872589		1879	4105	5984	205939212	SO:0001583	missense	1379	exon8			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1198C>A	1.37:g.207872589C>A	ENSP00000421736:p.Leu400Ile	Somatic	2170	Capture	Illumina HiSeq	Phase_I	205939212	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	9.631	1.136332	0.21123	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.63580	-0.05	1.65	0.585	0.17428	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.40743	0.1129	N	0.21282	0.65	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.18967	-1.0320	9	0.22109	T	0.4	.	4.8373	0.13471	0.3861:0.6139:0.0:0.0	.	400	Q2VPA4	CR1L_HUMAN	I	400	ENSP00000421736:L400I	ENSP00000434864:L344I	L	+	1	0	CR1L	205939212	0.000000	0.05858	0.092000	0.20876	0.830000	0.47004	-0.106000	0.10890	0.201000	0.20466	0.291000	0.19559	CTT		0.418	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
CR1L	1379	broad.mit.edu	37	1	207890889	207890889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207890889G>T	ENST00000508064.2	+	11	1555	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	499	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.E499*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTATGGAAAAGAAGTATCTTA	0.478																																					p.E499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1495T	1						.						124.0	116.0	118.0					1																	207890889		1885	4102	5987	205957512	SO:0001587	stop_gained	1379	exon11			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1495G>T	1.37:g.207890889G>T	ENSP00000421736:p.Glu499*	Somatic		Capture	Illumina HiSeq	Phase_I	205957512	NM_175710	Q32MC9|Q8NEU7	Nonsense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	18.78	3.697258	0.68386	.	.	ENSG00000197721	ENST00000508064	.	.	.	3.01	0.938	0.19500	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.1147	0.20120	0.2814:0.0:0.7186:0.0	.	.	.	.	X	499	.	ENSP00000421736:E499X	E	+	1	0	CR1L	205957512	0.016000	0.18221	0.002000	0.10522	0.149000	0.21700	0.350000	0.20079	0.087000	0.17167	0.305000	0.20034	GAA		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
CD46	4179	broad.mit.edu	37	1	207956659	207956659	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207956659A>C	ENST00000358170.2	+	10	1167	c.1011A>C	c.(1009-1011)ggA>ggC	p.G337G	CD46_ENST00000322875.4_Silent_p.G337G|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Silent_p.G322G|CD46_ENST00000480003.1_Silent_p.G308G|CD46_ENST00000367047.1_Silent_p.G274G|CD46_ENST00000361067.1_Silent_p.G323G|CD46_ENST00000367042.1_Silent_p.G322G|CD46_ENST00000357714.1_Silent_p.G307G|CD46_ENST00000367041.1_Silent_p.G307G|CD46_ENST00000322918.5_Silent_p.G307G|CD46_ENST00000360212.2_Silent_p.G293G|CD46_ENST00000441839.2_Silent_p.G322G	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	337					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.G337G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CTGAGGAAGGAATACTTGACA	0.299																																					p.G337G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1011C	1						.						115.0	124.0	121.0					1																	207956659		2203	4300	6503	206023282	SO:0001819	synonymous_variant	4179	exon10			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.1011A>C	1.37:g.207956659A>C		Somatic		Capture	Illumina HiSeq	Phase_I	206023282	NM_172359	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	CCDS1485.1																																																																																				0.299	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
CD46	4179	broad.mit.edu	37	1	207959022	207959022	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207959022G>T	ENST00000358170.2	+	12	1278	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	CD46_ENST00000322875.4_Missense_Mutation_p.K374N|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.K359N|CD46_ENST00000480003.1_Missense_Mutation_p.K345N|CD46_ENST00000367047.1_Missense_Mutation_p.K311N|CD46_ENST00000361067.1_Missense_Mutation_p.K360N|CD46_ENST00000367042.1_Missense_Mutation_p.K359N|CD46_ENST00000357714.1_Missense_Mutation_p.K344N|CD46_ENST00000367041.1_Missense_Mutation_p.K344N|CD46_ENST00000322918.5_Intron|CD46_ENST00000360212.2_Missense_Mutation_p.K330N|CD46_ENST00000441839.2_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	374					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.K374N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GGAGGAAGAAGAAAGGGTAAA	0.343																																					p.K374N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1122T	1						.						209.0	214.0	212.0					1																	207959022		2203	4300	6503	206025645	SO:0001583	missense	4179	exon12			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.1122G>T	1.37:g.207959022G>T	ENSP00000350893:p.Lys374Asn	Somatic		Capture	Illumina HiSeq	Phase_I	206025645	NM_172359	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405796	0.83230	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	4.48	2.57	0.30868	.	0.748428	0.11520	N	0.555811	T	0.65657	0.2712	L	0.43923	1.385	0.25259	N	0.989611	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.993;0.984	T	0.51911	-0.8645	10	0.72032	D	0.01	.	7.4802	0.27400	0.1974:0.0:0.8026:0.0	.	344;360;345;359;344;360;374;359;330;330;345;374	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-15;P15529-6;P15529	.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	N	374;359;359;344;344;374;311;360;330;345	ENSP00000350893:K374N;ENSP00000346912:K359N;ENSP00000356009:K359N;ENSP00000356008:K344N;ENSP00000350346:K344N;ENSP00000313875:K374N;ENSP00000356014:K311N;ENSP00000354358:K360N;ENSP00000353342:K330N;ENSP00000418471:K345N	ENSP00000313875:K374N	K	+	3	2	CD46	206025645	0.464000	0.25807	0.523000	0.27875	0.947000	0.59692	0.411000	0.21115	0.803000	0.34113	0.591000	0.81541	AAG		0.343	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
LAMB3	3914	broad.mit.edu	37	1	209803245	209803245	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:209803245C>A	ENST00000356082.4	-	10	1103	c.969G>T	c.(967-969)gaG>gaT	p.E323D	LAMB3_ENST00000391911.1_Missense_Mutation_p.E323D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E323D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTGACATGTCTCTGAGTGCC	0.557																																					p.E323D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	1						.						86.0	81.0	82.0					1																	209803245		2203	4300	6503	207869868	SO:0001583	missense	3914	exon9			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.969G>T	1.37:g.209803245C>A	ENSP00000348384:p.Glu323Asp	Somatic		Capture	Illumina HiSeq	Phase_I	207869868	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025733	0.54683	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61859	0.07;0.07;0.07	5.66	3.8	0.43715	EGF-like, laminin (3);	0.243327	0.43260	D	0.000595	T	0.34250	0.0891	N	0.16862	0.45	0.09310	N	1	B	0.22346	0.068	B	0.28011	0.085	T	0.16837	-1.0389	10	0.14656	T	0.56	.	3.3032	0.06990	0.1234:0.5635:0.1675:0.1457	.	323	Q13751	LAMB3_HUMAN	D	323	ENSP00000375778:E323D;ENSP00000348384:E323D;ENSP00000355997:E323D	ENSP00000348384:E323D	E	-	3	2	LAMB3	207869868	0.040000	0.19996	0.960000	0.40013	0.990000	0.78478	0.199000	0.17237	0.765000	0.33221	0.650000	0.86243	GAG		0.557	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
HSD11B1	3290	broad.mit.edu	37	1	209880129	209880129	+	Missense_Mutation	SNP	G	G	A	rs200402963		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:209880129G>A	ENST00000367028.2	+	4	464	c.295G>A	c.(295-297)Gca>Aca	p.A99T	HSD11B1_ENST00000367027.3_Missense_Mutation_p.A99T|HSD11B1_ENST00000261465.1_Missense_Mutation_p.A99T|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	99					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.A99T(1)|p.A99P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	CATGACCTTCGCAGAGCAATT	0.532																																					p.A99T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G295A	1						.						195.0	178.0	184.0					1																	209880129		2203	4300	6503	207946752	SO:0001583	missense	3290	exon3			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.295G>A	1.37:g.209880129G>A	ENSP00000355995:p.Ala99Thr	Somatic		Capture	Illumina HiSeq	Phase_I	207946752	NM_005525	B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003940	0.54254	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87650	-2.28;-2.28;-2.28	5.16	3.29	0.37713	NAD(P)-binding domain (1);	0.101382	0.64402	N	0.000003	D	0.84511	0.5488	L	0.48935	1.535	0.46222	D	0.99893	D	0.56968	0.978	P	0.47573	0.55	T	0.82269	-0.0541	10	0.38643	T	0.18	.	11.6332	0.51187	0.1484:0.0:0.8516:0.0	.	99	P28845	DHI1_HUMAN	T	99	ENSP00000355995:A99T;ENSP00000261465:A99T;ENSP00000355994:A99T	ENSP00000261465:A99T	A	+	1	0	HSD11B1	207946752	0.975000	0.34042	0.992000	0.48379	0.995000	0.86356	2.696000	0.47052	0.837000	0.34925	0.563000	0.77884	GCA		0.532	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	
PINK1	65018	broad.mit.edu	37	1	20964572	20964572	+	Missense_Mutation	SNP	C	C	T	rs17852513		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:20964572C>T	ENST00000321556.4	+	2	719	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		P -> L (in dbSNP:rs34677717). {ECO:0000269|PubMed:17344846}.	P -> A (in Ref. 5; AAH28215). {ECO:0000305}.	activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.P209S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGCGAGCTCCGGGGGCCCC	0.572																																					p.P209S	Esophageal Squamous(145;853 1803 8146 34412 35011)											PINK1,ovary,NS,Substitution - coding silent,-2 	.	1	Substitution - Missense(1)	large_intestine(1)	c.C625T	1	GRCh37	CM085995	PINK1	M	rs17852513	.						40.0	40.0	40.0					1																	20964572		2203	4300	6503	20837159	SO:0001583	missense	65018	exon2			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.625C>T	1.37:g.20964572C>T	ENSP00000364204:p.Pro209Ser	Somatic		Capture	Illumina HiSeq	Phase_I	20837159	NM_032409	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	4.246	0.044584	0.08196	.	.	ENSG00000158828	ENST00000321556	T	0.72942	-0.7	5.24	0.694	0.18062	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.825129	0.11606	N	0.547318	T	0.48114	0.1482	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.28364	-1.0046	10	0.07030	T	0.85	-17.8843	3.3726	0.07227	0.1569:0.4015:0.3445:0.097	.	209	Q9BXM7	PINK1_HUMAN	S	209	ENSP00000364204:P209S	ENSP00000364204:P209S	P	+	1	0	PINK1	20837159	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.294000	0.08309	0.249000	0.21456	-0.321000	0.08615	CCG		0.572	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409	
DIEXF	27042	broad.mit.edu	37	1	210016993	210016993	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:210016993G>T	ENST00000491415.2	+	11	2036	c.1979G>T	c.(1978-1980)gGa>gTa	p.G660V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	660					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G660V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TTCCTTCAAGGAGAGAAACAG	0.468																																					p.G660V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1979T	1						.						69.0	69.0	69.0					1																	210016993		2203	4300	6503	208083616	SO:0001583	missense	27042	exon11			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1979G>T	1.37:g.210016993G>T	ENSP00000419005:p.Gly660Val	Somatic		Capture	Illumina HiSeq	Phase_I	208083616	NM_014388	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087699	0.94100	.	.	ENSG00000117597	ENST00000491415	T	0.55760	0.5	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84188	0.0443	10	0.72032	D	0.01	-23.5999	20.2664	0.98460	0.0:0.0:1.0:0.0	.	660	Q68CQ4	DIEXF_HUMAN	V	660	ENSP00000419005:G660V	ENSP00000419005:G660V	G	+	2	0	DIEXF	208083616	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.640000	0.98453	2.786000	0.95864	0.561000	0.74099	GGA		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
KIF17	57576	broad.mit.edu	37	1	20991216	20991216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:20991216C>T	ENST00000247986.2	-	15	3261	c.2951G>A	c.(2950-2952)aGc>aAc	p.S984N	KIF17_ENST00000400463.3_Missense_Mutation_p.S983N|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S884N			Q9P2E2	KIF17_HUMAN	kinesin family member 17	984					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S984N(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGAGTTGTTGCTGAGTGGGCA	0.632																																					p.S984N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2951A	1						.						93.0	83.0	86.0					1																	20991216		2203	4300	6503	20863803	SO:0001583	missense	57576	exon15			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2951G>A	1.37:g.20991216C>T	ENSP00000247986:p.Ser984Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20863803	NM_020816	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831521	0.32329	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.71341	-0.56;-0.45;-0.45	5.21	1.85	0.25348	.	0.660339	0.12379	U	0.474119	T	0.52613	0.1745	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.33111	-0.9881	10	0.23891	T	0.37	.	5.3167	0.15860	0.0:0.5608:0.1544:0.2848	.	984;983;984	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	N	884;983;984;365	ENSP00000364184:S884N;ENSP00000383311:S983N;ENSP00000247986:S984N	ENSP00000247986:S984N	S	-	2	0	KIF17	20863803	0.103000	0.21917	0.035000	0.18076	0.622000	0.37654	0.253000	0.18296	0.606000	0.29965	0.655000	0.94253	AGC		0.632	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
KIF17	57576	broad.mit.edu	37	1	20998662	20998662	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:20998662C>A	ENST00000247986.2	-	12	2801	c.2491G>T	c.(2491-2493)Gat>Tat	p.D831Y	KIF17_ENST00000400463.3_Missense_Mutation_p.D831Y|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.D731Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	831					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.D831Y(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GACTGCAGATCTTTGATCTCC	0.552																																					p.D831Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2491T	1						.						74.0	58.0	63.0					1																	20998662		2203	4300	6503	20871249	SO:0001583	missense	57576	exon12			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2491G>T	1.37:g.20998662C>A	ENSP00000247986:p.Asp831Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	20871249	NM_020816	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480266	0.84747	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	D;D;D	0.89270	-2.49;-2.21;-2.39	5.94	5.94	0.96194	.	0.000000	0.33534	U	0.004807	D	0.94335	0.8179	M	0.82323	2.585	0.39186	D	0.962877	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.998	D	0.95028	0.8166	10	0.87932	D	0	.	12.8308	0.57744	0.0:0.9229:0.0:0.0771	.	831;831;831	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	Y	731;831;831;212	ENSP00000364184:D731Y;ENSP00000383311:D831Y;ENSP00000247986:D831Y	ENSP00000247986:D831Y	D	-	1	0	KIF17	20871249	1.000000	0.71417	0.962000	0.40283	0.987000	0.75469	5.414000	0.66405	2.826000	0.97356	0.561000	0.74099	GAT		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
SYT14	255928	broad.mit.edu	37	1	210334159	210334159	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:210334159T>C	ENST00000472886.1	+	8	1454	c.1440T>C	c.(1438-1440)aaT>aaC	p.N480N	SYT14_ENST00000534859.1_Silent_p.N506N|SYT14_ENST00000422431.1_Silent_p.N544N|SYT14_ENST00000537238.1_Silent_p.N442N|SYT14_ENST00000367019.1_Silent_p.N499N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Silent_p.N442N			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	480	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.N480N(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GGCAGCCAAATCCAGTATATA	0.388																																					p.N480N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1440C	1						.						117.0	123.0	121.0					1																	210334159		2203	4299	6502	208400782	SO:0001819	synonymous_variant	255928	exon8			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1440T>C	1.37:g.210334159T>C		Somatic		Capture	Illumina HiSeq	Phase_I	208400782	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	CCDS31014.1																																																																																				0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
HP1BP3	50809	broad.mit.edu	37	1	21106902	21106902	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:21106902A>G	ENST00000312239.5	-	2	171	c.32T>C	c.(31-33)gTc>gCc	p.V11A	HP1BP3_ENST00000375000.1_Missense_Mutation_p.V11A|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	11					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V11A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTTAGGATGGACGAGTTCACC	0.473																																					p.V11A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T32C	1						.						124.0	102.0	110.0					1																	21106902		2203	4300	6503	20979489	SO:0001583	missense	50809	exon2			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.32T>C	1.37:g.21106902A>G	ENSP00000312625:p.Val11Ala	Somatic		Capture	Illumina HiSeq	Phase_I	20979489	NM_016287	A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774782	0.49786	.	.	ENSG00000127483	ENST00000312239;ENST00000438032;ENST00000417710;ENST00000375000;ENST00000414993	T;T	0.52295	0.67;1.67	5.71	4.56	0.56223	.	0.346611	0.24537	N	0.037676	T	0.29423	0.0733	N	0.19112	0.55	0.26147	N	0.98019	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14811	-1.0459	10	0.32370	T	0.25	-0.0866	6.9424	0.24500	0.7732:0.1512:0.0756:0.0	.	11;11	Q5SSJ5-5;Q5SSJ5	.;HP1B3_HUMAN	A	11	ENSP00000312625:V11A;ENSP00000403039:V11A	ENSP00000312625:V11A	V	-	2	0	HP1BP3	20979489	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.488000	0.45276	0.951000	0.37770	0.528000	0.53228	GTC		0.473	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
TRAF5	7188	broad.mit.edu	37	1	211529734	211529734	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:211529734G>T	ENST00000261464.5	+	4	356	c.302G>T	c.(301-303)aGa>aTa	p.R101I	TRAF5_ENST00000336184.2_Missense_Mutation_p.R101I|TRAF5_ENST00000367004.3_Missense_Mutation_p.R101I|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Missense_Mutation_p.R101I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	101					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R101T(1)|p.R101I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTTGCAAAAGAGAAGTCCTC	0.353																																					p.R101I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G302T	1						.						164.0	162.0	163.0					1																	211529734		2203	4300	6503	209596357	SO:0001583	missense	7188	exon4			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.302G>T	1.37:g.211529734G>T	ENSP00000261464:p.Arg101Ile	Somatic		Capture	Illumina HiSeq	Phase_I	209596357	NM_004619	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532235	0.85812	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.50001	1.72;0.76;1.72;1.72	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);	0.101493	0.64402	D	0.000006	T	0.76033	0.3931	M	0.91038	3.17	0.41062	D	0.985381	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.994	T	0.83152	-0.0103	10	0.87932	D	0	-19.7204	18.2125	0.89874	0.0:0.0:1.0:0.0	.	101;101;101	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	101	ENSP00000336825:R101I;ENSP00000389891:R101I;ENSP00000261464:R101I;ENSP00000355971:R101I	ENSP00000261464:R101I	R	+	2	0	TRAF5	209596357	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.690000	0.74567	2.361000	0.80049	0.655000	0.94253	AGA		0.353	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	
SLC30A1	7779	broad.mit.edu	37	1	211749179	211749179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:211749179C>A	ENST00000367001.4	-	2	1204	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	359					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.E359*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TTTCGAAGTTCTTTTATCAAA	0.338																																					p.E359X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1075T	1						.						62.0	63.0	63.0					1																	211749179		2203	4299	6502	209815802	SO:0001587	stop_gained	7779	exon2			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1075G>T	1.37:g.211749179C>A	ENSP00000355968:p.Glu359*	Somatic		Capture	Illumina HiSeq	Phase_I	209815802	NM_021194	Q0VAK9|Q9BZF6	Nonsense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	C	37	6.139435	0.97320	.	.	ENSG00000170385	ENST00000367001	.	.	.	5.54	4.58	0.56647	.	0.527793	0.22800	N	0.055486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3439	4.168	0.10315	0.0:0.5945:0.2153:0.1901	.	.	.	.	X	359	.	ENSP00000355968:E359X	E	-	1	0	SLC30A1	209815802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.942000	0.40243	2.607000	0.88179	0.563000	0.77884	GAA		0.338	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		
SLC30A1	7779	broad.mit.edu	37	1	211749305	211749305	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:211749305C>A	ENST00000367001.4	-	2	1078	c.949G>T	c.(949-951)Gat>Tat	p.D317Y		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	317					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.D317Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGAGTTGGATCTAAATATAGC	0.368																																					p.D317Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G949T	1						.						132.0	141.0	138.0					1																	211749305		2203	4300	6503	209815928	SO:0001583	missense	7779	exon2			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.949G>T	1.37:g.211749305C>A	ENSP00000355968:p.Asp317Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	209815928	NM_021194	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874511	0.72180	.	.	ENSG00000170385	ENST00000367001	D	0.85484	-1.99	5.44	5.44	0.79542	.	0.048832	0.85682	D	0.000000	D	0.96059	0.8716	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97805	1.0247	10	0.87932	D	0	-14.9383	19.2601	0.93964	0.0:1.0:0.0:0.0	.	317	Q9Y6M5	ZNT1_HUMAN	Y	317	ENSP00000355968:D317Y	ENSP00000355968:D317Y	D	-	1	0	SLC30A1	209815928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.534000	0.82004	2.549000	0.85964	0.563000	0.77884	GAT		0.368	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		
INTS7	25896	broad.mit.edu	37	1	212154471	212154471	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:212154471A>C	ENST00000366994.3	-	10	1298	c.1194T>G	c.(1192-1194)agT>agG	p.S398R	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.S349R|INTS7_ENST00000366992.3_Missense_Mutation_p.S398R|INTS7_ENST00000366993.3_Missense_Mutation_p.S398R	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	398					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.S398R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TATCATCTTGACTACAAAGTA	0.363																																					p.S398R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1194G	1						.						97.0	88.0	91.0					1																	212154471		2203	4300	6503	210221094	SO:0001583	missense	25896	exon10			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1194T>G	1.37:g.212154471A>C	ENSP00000355961:p.Ser398Arg	Somatic		Capture	Illumina HiSeq	Phase_I	210221094	NM_001199812	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573749	0.65765	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.36	1.4	0.22301	Armadillo-like helical (1);Armadillo-type fold (1);	0.074774	0.85682	D	0.000000	T	0.39384	0.1076	L	0.56769	1.78	0.54753	D	0.999984	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.986;0.986;0.986;0.991	T	0.43956	-0.9359	10	0.13853	T	0.58	-12.1577	3.965	0.09428	0.5878:0.0:0.2669:0.1453	.	349;398;398;398	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	R	398;398;398;349	ENSP00000355961:S398R;ENSP00000355960:S398R;ENSP00000355959:S398R;ENSP00000388908:S349R	ENSP00000355959:S398R	S	-	3	2	INTS7	210221094	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.004000	0.40854	0.309000	0.22966	0.528000	0.53228	AGT		0.363	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
INTS7	25896	broad.mit.edu	37	1	212190306	212190306	+	Missense_Mutation	SNP	C	C	T	rs147767700		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:212190306C>T	ENST00000366994.3	-	4	535	c.431G>A	c.(430-432)cGt>cAt	p.R144H	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.R95H|INTS7_ENST00000366992.3_Missense_Mutation_p.R144H|INTS7_ENST00000366993.3_Missense_Mutation_p.R144H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	144					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.R144H(2)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TAAACTCTGACGAATACTATG	0.393																																					p.R144H												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G431A	1						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	173.0	173.0	173.0		284,431,431,431	5.9	1.0	1	dbSNP_134	173	0,8600		0,0,4300	no	missense,missense,missense,missense	INTS7	NM_001199809.1,NM_001199811.1,NM_001199812.1,NM_015434.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	95/914,144/949,144/943,144/963	212190306	1,13005	2203	4300	6503	210256929	SO:0001583	missense	25896	exon4			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.431G>A	1.37:g.212190306C>T	ENSP00000355961:p.Arg144His	Somatic		Capture	Illumina HiSeq	Phase_I	210256929	NM_001199812	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563698	0.96527	2.27E-4	0.0	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.992	T	0.58962	-0.7543	10	0.62326	D	0.03	-26.031	20.2279	0.98344	0.0:1.0:0.0:0.0	.	95;144;144;144	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	H	144;144;144;95	ENSP00000355961:R144H;ENSP00000355960:R144H;ENSP00000355959:R144H;ENSP00000388908:R95H	ENSP00000355959:R144H	R	-	2	0	INTS7	210256929	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.412000	0.80091	2.778000	0.95560	0.655000	0.94253	CGT		0.393	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
EIF4G3	8672	broad.mit.edu	37	1	21268540	21268540	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:21268540T>C	ENST00000264211.8	-	8	1133	c.939A>G	c.(937-939)atA>atG	p.I313M	EIF4G3_ENST00000356916.3_Missense_Mutation_p.I324M|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374927.4_Missense_Mutation_p.I313M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I319M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I313M|EIF4G3_ENST00000536266.1_De_novo_Start_InFrame|EIF4G3_ENST00000602326.1_Missense_Mutation_p.I319M|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	313					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I313M(1)|p.I319M(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGGCTGGGTATAGGAATTG	0.428																																					p.I313M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A939G	1						.						247.0	233.0	238.0					1																	21268540		2203	4300	6503	21141127	SO:0001583	missense	8672	exon9			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.939A>G	1.37:g.21268540T>C	ENSP00000264211:p.Ile313Met	Somatic		Capture	Illumina HiSeq	Phase_I	21141127	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	8.067	0.769348	0.15983	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	6.17	-0.319	0.12725	.	0.960603	0.08747	N	0.899654	T	0.10766	0.0263	N	0.14661	0.345	0.09310	N	1	B;P;P;B;B	0.37864	0.432;0.61;0.603;0.087;0.004	B;B;B;B;B	0.38616	0.261;0.125;0.277;0.049;0.002	T	0.21177	-1.0253	10	0.42905	T	0.14	-0.0394	1.7815	0.03032	0.1088:0.2625:0.247:0.3817	.	313;508;439;319;313	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	M	313;509;313;319;439;313;324	ENSP00000264211:I313M;ENSP00000383274:I313M;ENSP00000364073:I319M;ENSP00000364062:I313M	ENSP00000264211:I313M	I	-	3	3	EIF4G3	21141127	0.000000	0.05858	0.076000	0.20297	0.397000	0.30659	-0.804000	0.04535	-0.039000	0.13602	0.533000	0.62120	ATA		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
SPATA45	149643	broad.mit.edu	37	1	213009454	213009454	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:213009454T>A	ENST00000332912.3	-	2	145	c.38A>T	c.(37-39)aAa>aTa	p.K13I		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		13								p.K13I(1)		kidney(1)|large_intestine(1)|lung(1)	3						TACTCCATGTTTTTTCATTAT	0.363																																					p.K13I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A38T	1						.						151.0	143.0	146.0					1																	213009454		2203	4297	6500	211076077	SO:0001583	missense	149643	exon2																														ENST00000332912.3:c.38A>T	1.37:g.213009454T>A	ENSP00000419160:p.Lys13Ile	Somatic		Capture	Illumina HiSeq	Phase_I	211076077	NM_001024601		Missense_Mutation	SNP	ENST00000332912.3	37	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816779	0.50633	.	.	ENSG00000185523	ENST00000332912	T	0.53206	0.63	4.71	2.33	0.28932	.	0.581585	0.15747	N	0.246626	T	0.34048	0.0884	.	.	.	0.09310	N	1	B	0.26809	0.16	B	0.25291	0.059	T	0.29119	-1.0022	9	0.72032	D	0.01	-4.8291	5.6647	0.17689	0.1695:0.0:0.1772:0.6534	.	13	Q537H7	CA227_HUMAN	I	13	ENSP00000419160:K13I	ENSP00000419160:K13I	K	-	2	0	C1orf227	211076077	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	0.532000	0.23067	0.500000	0.27991	-0.336000	0.08194	AAA		0.363	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2		
RPS6KC1	26750	broad.mit.edu	37	1	213414047	213414047	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:213414047G>A	ENST00000366960.3	+	11	1378	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308																																					p.G410S												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G1228A	1						.						79.0	91.0	87.0					1																	213414047		2203	4300	6503	211480670	SO:0001583	missense	26750	exon11			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1228G>A	1.37:g.213414047G>A	ENSP00000355927:p.Gly410Ser	Somatic		Capture	Illumina HiSeq	Phase_I	211480670	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309104	0.60414	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71925	-0.4445	10	0.87932	D	0	-1.6401	15.0811	0.72117	0.0686:0.0:0.9314:0.0	.	198;410;398	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	198;410;398;113	ENSP00000442306:G198S;ENSP00000355927:G410S;ENSP00000355926:G398S;ENSP00000439282:G113S	ENSP00000355926:G398S	G	+	1	0	RPS6KC1	211480670	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.040000	0.93783	1.515000	0.48885	0.557000	0.71058	GGC		0.308	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
PROX1	5629	broad.mit.edu	37	1	214170561	214170561	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214170561G>A	ENST00000366958.4	+	2	1291	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	PROX1_ENST00000261454.4_Missense_Mutation_p.R228Q|PROX1_ENST00000435016.1_Missense_Mutation_p.R228Q|PROX1_ENST00000498508.2_Missense_Mutation_p.R228Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	228					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R228Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTTTCAGCCCGAAAAGAACAG	0.522																																					p.R228Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	1						.						33.0	38.0	36.0					1																	214170561		2203	4300	6503	212237184	SO:0001583	missense	5629	exon2			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.683G>A	1.37:g.214170561G>A	ENSP00000355925:p.Arg228Gln	Somatic		Capture	Illumina HiSeq	Phase_I	212237184	NM_002763	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378064	0.61735	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.43152	1.355	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.02646	-1.1129	10	0.49607	T	0.09	-1.6935	20.2697	0.98465	0.0:0.0:1.0:0.0	.	228	Q92786	PROX1_HUMAN	Q	228	ENSP00000420283:R228Q;ENSP00000355925:R228Q;ENSP00000400694:R228Q;ENSP00000261454:R228Q	ENSP00000261454:R228Q	R	+	2	0	PROX1	212237184	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	CGA		0.522	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
CENPF	1063	broad.mit.edu	37	1	214815271	214815271	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214815271A>C	ENST00000366955.3	+	12	3758	c.3590A>C	c.(3589-3591)gAa>gCa	p.E1197A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1197A(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGGATCTTGAAGTTAAAGAA	0.333																																					p.E1197A	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3590C	1						.						45.0	52.0	50.0					1																	214815271		2194	4291	6485	212881894	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3590A>C	1.37:g.214815271A>C	ENSP00000355922:p.Glu1197Ala	Somatic		Capture	Illumina HiSeq	Phase_I	212881894	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406978	0.25378	.	.	ENSG00000117724	ENST00000366955	T	0.04917	3.53	5.18	2.84	0.33178	.	0.698788	0.11758	N	0.532417	T	0.06508	0.0167	.	.	.	0.09310	N	1	P	0.48764	0.915	B	0.41764	0.366	T	0.34304	-0.9834	9	0.66056	D	0.02	.	5.8812	0.18856	0.7755:0.0:0.0782:0.1463	.	1197	P49454	CENPF_HUMAN	A	1197	ENSP00000355922:E1197A	ENSP00000355922:E1197A	E	+	2	0	CENPF	212881894	0.993000	0.37304	0.001000	0.08648	0.783000	0.44284	3.226000	0.51254	0.298000	0.22638	0.421000	0.28195	GAA		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214815491	214815491	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214815491A>G	ENST00000366955.3	+	12	3978	c.3810A>G	c.(3808-3810)gaA>gaG	p.E1270E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1270E(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGCGGAAGAAAAGTATATTT	0.398																																					p.E1270E	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3810G	1						.						53.0	53.0	53.0					1																	214815491		2203	4300	6503	212882114	SO:0001819	synonymous_variant	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3810A>G	1.37:g.214815491A>G		Somatic		Capture	Illumina HiSeq	Phase_I	212882114	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214816385	214816385	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214816385G>T	ENST00000366955.3	+	12	4872	c.4704G>T	c.(4702-4704)gaG>gaT	p.E1568D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1664	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1568D(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTAGAAGAGAAAATGGAAA	0.473																																					p.E1568D	Colon(80;575 1284 11000 14801 43496)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G4704T	1						.						49.0	53.0	52.0					1																	214816385		2203	4300	6503	212883008	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4704G>T	1.37:g.214816385G>T	ENSP00000355922:p.Glu1568Asp	Somatic		Capture	Illumina HiSeq	Phase_I	212883008	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	6.808	0.518239	0.13005	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.9	1.75	0.24633	.	0.694331	0.11888	N	0.519839	T	0.01695	0.0054	N	0.05306	-0.075	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49143	-0.8970	10	0.19147	T	0.46	.	3.1187	0.06383	0.1682:0.2768:0.4361:0.1189	.	1664	P49454	CENPF_HUMAN	D	1568	ENSP00000355922:E1568D	ENSP00000355922:E1568D	E	+	3	2	CENPF	212883008	0.241000	0.23857	0.964000	0.40570	0.972000	0.66771	-0.553000	0.06012	0.436000	0.26393	0.655000	0.94253	GAG		0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214816514	214816514	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214816514G>T	ENST00000366955.3	+	12	5001	c.4833G>T	c.(4831-4833)caG>caT	p.Q1611H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1707	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q1611H(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTGGCAACAGAAGCTGACAA	0.463																																					p.Q1611H	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4833T	1						.						63.0	59.0	60.0					1																	214816514		2203	4300	6503	212883137	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4833G>T	1.37:g.214816514G>T	ENSP00000355922:p.Gln1611His	Somatic		Capture	Illumina HiSeq	Phase_I	212883137	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631087	0.67015	.	.	ENSG00000117724	ENST00000366955	T	0.05319	3.46	5.12	4.2	0.49525	.	0.000000	0.34484	N	0.003932	T	0.17109	0.0411	M	0.69823	2.125	0.35834	D	0.825506	D	0.71674	0.998	P	0.54460	0.753	T	0.10086	-1.0645	10	0.72032	D	0.01	.	13.984	0.64321	0.0746:0.0:0.9254:0.0	.	1707	P49454	CENPF_HUMAN	H	1611	ENSP00000355922:Q1611H	ENSP00000355922:Q1611H	Q	+	3	2	CENPF	212883137	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.185000	0.50934	2.385000	0.81259	0.655000	0.94253	CAG		0.463	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214818799	214818799	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214818799G>A	ENST00000366955.3	+	13	6054	c.5886G>A	c.(5884-5886)caG>caA	p.Q1962Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2058					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q1962Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGAAACCAGCTTCGTGGAG	0.378																																					p.Q1962Q	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5886A	1						.						59.0	64.0	62.0					1																	214818799		2203	4300	6503	212885422	SO:0001819	synonymous_variant	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5886G>A	1.37:g.214818799G>A		Somatic		Capture	Illumina HiSeq	Phase_I	212885422	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.378	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214820415	214820415	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214820415C>A	ENST00000366955.3	+	13	7670	c.7502C>A	c.(7501-7503)tCt>tAt	p.S2501Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2597	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S2501Y(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTTTGCAATCTTCAGTGAAT	0.383																																					p.S2501Y	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7502A	1						.						62.0	69.0	67.0					1																	214820415		2203	4300	6503	212887038	SO:0001583	missense	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7502C>A	1.37:g.214820415C>A	ENSP00000355922:p.Ser2501Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	212887038	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449293	0.43531	.	.	ENSG00000117724	ENST00000366955	T	0.04083	3.71	4.74	3.82	0.43975	.	0.000000	0.36703	N	0.002448	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	D	0.54772	0.968	P	0.54060	0.741	T	0.15206	-1.0445	10	0.62326	D	0.03	.	4.0264	0.09688	0.2611:0.5573:0.0:0.1815	.	2597	P49454	CENPF_HUMAN	Y	2501	ENSP00000355922:S2501Y	ENSP00000355922:S2501Y	S	+	2	0	CENPF	212887038	0.721000	0.28007	0.892000	0.35008	0.668000	0.39293	1.226000	0.32563	2.558000	0.86282	0.609000	0.83330	TCT		0.383	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
KCNK2	3776	broad.mit.edu	37	1	215259990	215259990	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:215259990T>C	ENST00000444842.2	+	2	476	c.326T>C	c.(325-327)gTc>gCc	p.V109A	KCNK2_ENST00000391895.2_Missense_Mutation_p.V105A|KCNK2_ENST00000391894.2_Missense_Mutation_p.V94A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	109					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.V94A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CATTCCTGTGTCAATTCGACG	0.468																																					p.V109A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T326C	1						.						167.0	154.0	158.0					1																	215259990		2203	4300	6503	213326613	SO:0001583	missense	3776	exon2			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.326T>C	1.37:g.215259990T>C	ENSP00000394033:p.Val109Ala	Somatic		Capture	Illumina HiSeq	Phase_I	213326613	NM_001017425	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803155	0.90623	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;T;T;T;T	0.24350	1.86;2.13;1.87;1.86;2.42	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.983;0.997;0.999	P;D;D	0.77557	0.876;0.936;0.99	T	0.56697	-0.7936	10	0.87932	D	0	.	15.6968	0.77506	0.0:0.0:0.0:1.0	.	94;109;105	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	A	105;105;53;94;109;53	ENSP00000375765:V105A;ENSP00000420569:V53A;ENSP00000375764:V94A;ENSP00000394033:V109A;ENSP00000413460:V53A	ENSP00000355915:V105A	V	+	2	0	KCNK2	213326613	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.698000	0.84413	2.111000	0.64477	0.455000	0.32223	GTC		0.468	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217	
KCTD3	51133	broad.mit.edu	37	1	215752355	215752355	+	Missense_Mutation	SNP	G	G	A	rs566861222		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:215752355G>A	ENST00000259154.4	+	7	704	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	137					protein homooligomerization (GO:0051260)			p.R137H(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCTAGTCGTAAAATAAAC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		13862	0.001		0.0	False		,,,				2504	0.0				p.R137H												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G410A	1						.						66.0	66.0	66.0					1																	215752355		2203	4300	6503	213818978	SO:0001583	missense	51133	exon7			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.410G>A	1.37:g.215752355G>A	ENSP00000259154:p.Arg137His	Somatic		Capture	Illumina HiSeq	Phase_I	213818978	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860643	0.51482	.	.	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.39592	1.07	5.7	5.7	0.88788	.	0.046320	0.85682	D	0.000000	T	0.35219	0.0924	L	0.33485	1.01	0.58432	D	0.999993	B;B	0.25007	0.116;0.017	B;B	0.19391	0.025;0.008	T	0.08066	-1.0740	10	0.45353	T	0.12	-25.7866	16.5607	0.84565	0.0:0.0:1.0:0.0	.	137;137	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	H	137	ENSP00000259154:R137H	ENSP00000259154:R137H	R	+	2	0	KCTD3	213818978	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.262000	0.58847	2.680000	0.91292	0.563000	0.77884	CGT		0.353	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu	37	1	215844360	215844360	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:215844360G>T	ENST00000307340.3	-	64	14473	c.14087C>A	c.(14086-14088)tCt>tAt	p.S4696Y	USH2A_ENST00000366943.2_Missense_Mutation_p.S4696Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4696	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S4696Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATAAAAGATGTTGAGCT	0.363										HNSCC(13;0.011)																											p.S4696Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14087A	1						.						164.0	164.0	164.0					1																	215844360		2203	4300	6503	213910983	SO:0001583	missense	7399	exon64			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14087C>A	1.37:g.215844360G>T	ENSP00000305941:p.Ser4696Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	213910983	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015233	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60424	0.19;0.19	5.21	3.27	0.37495	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176015	0.27245	N	0.020249	T	0.56124	0.1964	M	0.78049	2.395	0.09310	N	1	B	0.22541	0.071	B	0.25291	0.059	T	0.52601	-0.8554	10	0.46703	T	0.11	.	8.4633	0.32940	0.138:0.0:0.7364:0.1256	.	4696	O75445	USH2A_HUMAN	Y	4696	ENSP00000305941:S4696Y;ENSP00000355910:S4696Y	ENSP00000305941:S4696Y	S	-	2	0	USH2A	213910983	0.802000	0.28943	0.003000	0.11579	0.304000	0.27724	2.723000	0.47277	0.644000	0.30656	0.650000	0.86243	TCT		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215972288	215972288	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:215972288A>G	ENST00000307340.3	-	50	10305	c.9919T>C	c.(9919-9921)Tgt>Cgt	p.C3307R	USH2A_ENST00000366943.2_Missense_Mutation_p.C3307R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3307					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C3307R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCCACCACAACACTCTAAA	0.517										HNSCC(13;0.011)																											p.C3307R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9919C	1						.						182.0	154.0	164.0					1																	215972288		2203	4300	6503	214038911	SO:0001583	missense	7399	exon50			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9919T>C	1.37:g.215972288A>G	ENSP00000305941:p.Cys3307Arg	Somatic		Capture	Illumina HiSeq	Phase_I	214038911	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.405749	0.83230	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61274	0.12;0.12	5.81	5.81	0.92471	Fibronectin, type III (2);	0.000000	0.48286	D	0.000200	T	0.79736	0.4497	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83552	0.0102	10	0.87932	D	0	.	16.1667	0.81768	1.0:0.0:0.0:0.0	.	3307	O75445	USH2A_HUMAN	R	3307	ENSP00000305941:C3307R;ENSP00000355910:C3307R	ENSP00000305941:C3307R	C	-	1	0	USH2A	214038911	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.365000	0.90108	2.210000	0.71456	0.533000	0.62120	TGT		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216369942	216369942	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216369942G>T	ENST00000307340.3	-	19	4590	c.4204C>A	c.(4204-4206)Ctt>Att	p.L1402I	USH2A_ENST00000366943.2_Missense_Mutation_p.L1402I|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.L1402I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1402	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1402I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTCAGAAAGCATATTGATG	0.403										HNSCC(13;0.011)																											p.L1402I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4204A	1						.						199.0	181.0	187.0					1																	216369942		2203	4300	6503	214436565	SO:0001583	missense	7399	exon19			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4204C>A	1.37:g.216369942G>T	ENSP00000305941:p.Leu1402Ile	Somatic		Capture	Illumina HiSeq	Phase_I	214436565	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	0.660	-0.806142	0.02819	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57107	0.42;0.42;0.42	5.95	-4.92	0.03075	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.649296	0.13334	N	0.395696	T	0.12774	0.0310	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.35748	-0.9776	10	0.16420	T	0.52	.	7.9619	0.30076	0.0:0.3935:0.2088:0.3977	.	1402;1402	O75445-2;O75445	.;USH2A_HUMAN	I	1402	ENSP00000305941:L1402I;ENSP00000355910:L1402I;ENSP00000355909:L1402I	ENSP00000305941:L1402I	L	-	1	0	USH2A	214436565	0.713000	0.27926	0.115000	0.21578	0.613000	0.37349	-0.465000	0.06680	-1.755000	0.01320	-1.794000	0.00625	CTT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216371663	216371663	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216371663C>T	ENST00000307340.3	-	18	4461	c.4075G>A	c.(4075-4077)Gaa>Aaa	p.E1359K	USH2A_ENST00000366943.2_Missense_Mutation_p.E1359K|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.E1359K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1359	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E1359K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTGATTCTCCCGTTCTT	0.383										HNSCC(13;0.011)																											p.E1359K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4075A	1						.						91.0	88.0	89.0					1																	216371663		2203	4300	6503	214438286	SO:0001583	missense	7399	exon18			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4075G>A	1.37:g.216371663C>T	ENSP00000305941:p.Glu1359Lys	Somatic		Capture	Illumina HiSeq	Phase_I	214438286	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978351	0.92982	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56103	0.52;0.48;0.48	5.56	5.56	0.83823	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44097	U	0.000492	D	0.83473	0.5262	H	0.97682	4.055	0.58432	D	0.999997	D;D	0.89917	1.0;0.976	D;P	0.97110	1.0;0.612	D	0.89195	0.3553	10	0.87932	D	0	.	19.5364	0.95255	0.0:1.0:0.0:0.0	.	1359;1359	O75445-2;O75445	.;USH2A_HUMAN	K	1359	ENSP00000305941:E1359K;ENSP00000355910:E1359K;ENSP00000355909:E1359K	ENSP00000305941:E1359K	E	-	1	0	USH2A	214438286	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	6.467000	0.73547	2.619000	0.88677	0.557000	0.71058	GAA		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216424311	216424311	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216424311T>C	ENST00000307340.3	-	12	2487	c.2101A>G	c.(2101-2103)Aca>Gca	p.T701A	USH2A_ENST00000366943.2_Missense_Mutation_p.T701A|USH2A_ENST00000366942.3_Missense_Mutation_p.T701A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	701	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T701A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATCCACTGTCCCAGAGGTA	0.468										HNSCC(13;0.011)																											p.T701A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2101G	1						.						151.0	129.0	136.0					1																	216424311		2203	4300	6503	214490934	SO:0001583	missense	7399	exon12			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2101A>G	1.37:g.216424311T>C	ENSP00000305941:p.Thr701Ala	Somatic		Capture	Illumina HiSeq	Phase_I	214490934	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593007	0.46214	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61158	0.13;0.13;0.13	5.26	5.26	0.73747	EGF-like, laminin (3);	0.000000	0.45126	D	0.000387	T	0.72566	0.3476	L	0.56769	1.78	0.47659	D	0.999487	D;D	0.89917	0.96;1.0	P;D	0.87578	0.545;0.998	T	0.75110	-0.3433	10	0.62326	D	0.03	.	15.1656	0.72821	0.0:0.0:0.0:1.0	.	701;701	O75445-2;O75445	.;USH2A_HUMAN	A	701	ENSP00000305941:T701A;ENSP00000355910:T701A;ENSP00000355909:T701A	ENSP00000305941:T701A	T	-	1	0	USH2A	214490934	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.557000	0.60782	1.993000	0.58246	0.533000	0.62120	ACA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216496929	216496929	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216496929G>A	ENST00000307340.3	-	8	1823	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	USH2A_ENST00000366943.2_Silent_p.F479F|USH2A_ENST00000366942.3_Silent_p.F479F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	479	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		F -> S. {ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:9624053}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F479F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCTTTTACGAACTCTTGAA	0.408										HNSCC(13;0.011)																											p.F479F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1437T	1						.						155.0	155.0	155.0					1																	216496929		2203	4300	6503	214563552	SO:0001819	synonymous_variant	7399	exon8			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1437C>T	1.37:g.216496929G>A		Somatic		Capture	Illumina HiSeq	Phase_I	214563552	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216538360	216538360	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216538360C>A	ENST00000307340.3	-	4	1105	c.719G>T	c.(718-720)aGa>aTa	p.R240I	USH2A_ENST00000366943.2_Missense_Mutation_p.R240I|USH2A_ENST00000366942.3_Missense_Mutation_p.R240I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	240					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R240I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTAGAGTTCTTGCATTGAA	0.343										HNSCC(13;0.011)																											p.R240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719T	1						.						137.0	128.0	131.0					1																	216538360		2202	4300	6502	214604983	SO:0001583	missense	7399	exon4			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.719G>T	1.37:g.216538360C>A	ENSP00000305941:p.Arg240Ile	Somatic		Capture	Illumina HiSeq	Phase_I	214604983	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276352	0.59649	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62788	0.0;0.0;0.0	5.35	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.46758	U	0.000278	T	0.70561	0.3238	M	0.63428	1.95	0.49130	D	0.99975	D;D	0.61080	0.967;0.989	P;P	0.58077	0.663;0.832	T	0.73830	-0.3859	10	0.66056	D	0.02	.	12.1133	0.53852	0.0:0.8577:0.0:0.1423	.	240;240	O75445-2;O75445	.;USH2A_HUMAN	I	240	ENSP00000305941:R240I;ENSP00000355910:R240I;ENSP00000355909:R240I	ENSP00000305941:R240I	R	-	2	0	USH2A	214604983	1.000000	0.71417	0.973000	0.42090	0.925000	0.55904	1.147000	0.31602	1.251000	0.43983	0.591000	0.81541	AGA		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216595243	216595243	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216595243C>A	ENST00000307340.3	-	2	822	c.436G>T	c.(436-438)Gca>Tca	p.A146S	USH2A_ENST00000366943.2_Missense_Mutation_p.A146S|USH2A_ENST00000366942.3_Missense_Mutation_p.A146S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	146					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A146S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAATGATGCCATCAGCTTT	0.408										HNSCC(13;0.011)																											p.A146S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436T	1						.						121.0	116.0	117.0					1																	216595243		2203	4300	6503	214661866	SO:0001583	missense	7399	exon2			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.436G>T	1.37:g.216595243C>A	ENSP00000305941:p.Ala146Ser	Somatic		Capture	Illumina HiSeq	Phase_I	214661866	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	2.075	-0.412155	0.04799	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.72835	-0.69;-0.69;-0.69	5.42	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.357751	0.19958	U	0.102278	T	0.52996	0.1769	L	0.40543	1.245	0.09310	N	1	B;B	0.24823	0.112;0.051	B;B	0.27380	0.079;0.018	T	0.30357	-0.9981	10	0.23891	T	0.37	.	2.0328	0.03533	0.1275:0.4815:0.1239:0.2672	.	146;146	O75445-2;O75445	.;USH2A_HUMAN	S	146	ENSP00000305941:A146S;ENSP00000355910:A146S;ENSP00000355909:A146S	ENSP00000305941:A146S	A	-	1	0	USH2A	214661866	0.640000	0.27243	0.000000	0.03702	0.157000	0.22087	1.149000	0.31626	0.259000	0.21709	-0.188000	0.12872	GCA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ESRRG	2104	broad.mit.edu	37	1	216692642	216692642	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216692642G>A	ENST00000408911.3	-	6	1137	c.984C>T	c.(982-984)gaC>gaT	p.D328D	ESRRG_ENST00000391890.3_Silent_p.D312D|ESRRG_ENST00000487276.1_Silent_p.D305D|ESRRG_ENST00000361395.2_Silent_p.D305D|ESRRG_ENST00000361525.3_Silent_p.D305D|ESRRG_ENST00000463665.1_Silent_p.D266D|ESRRG_ENST00000360012.3_Silent_p.D305D|ESRRG_ENST00000493603.1_Silent_p.D305D|ESRRG_ENST00000366938.2_Silent_p.D305D|ESRRG_ENST00000366940.2_Silent_p.D305D|ESRRG_ENST00000366937.1_Silent_p.D340D|ESRRG_ENST00000359162.2_Silent_p.D305D|ESRRG_ENST00000493748.1_Silent_p.D305D	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	328					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D328D(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTATATAATCGTCTGCATAGA	0.438																																					p.D305D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	1						.						96.0	92.0	93.0					1																	216692642		2203	4300	6503	214759265	SO:0001819	synonymous_variant	2104	exon8			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.984C>T	1.37:g.216692642G>A		Somatic		Capture	Illumina HiSeq	Phase_I	214759265	NM_206594	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	CCDS41468.1																																																																																				0.438	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
ALPL	249	broad.mit.edu	37	1	21904092	21904092	+	Missense_Mutation	SNP	G	G	A	rs79250591		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:21904092G>A	ENST00000374840.3	+	12	1776	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	ALPL_ENST00000539907.1_Missense_Mutation_p.G432D|ALPL_ENST00000374829.1_Missense_Mutation_p.G155D|ALPL_ENST00000374830.1_Missense_Mutation_p.G155D|ALPL_ENST00000540617.1_Missense_Mutation_p.G454D|ALPL_ENST00000425315.2_Missense_Mutation_p.G509D|ALPL_ENST00000374832.1_Missense_Mutation_p.G509D	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	509					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G509D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CTTGCTGCAGGCCCCCTGCTG	0.682																																					p.G509D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1526A	1						.						23.0	20.0	21.0					1																	21904092		2198	4289	6487	21776679	SO:0001583	missense	249	exon12			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1526G>A	1.37:g.21904092G>A	ENSP00000363973:p.Gly509Asp	Somatic		Capture	Illumina HiSeq	Phase_I	21776679	NM_000478	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	g	5.562	0.288594	0.10513	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.97232	-3.92;-3.92;-3.74;-3.74;-3.74;-4.3;-4.3	4.91	1.74	0.24563	.	1.130240	0.06463	N	0.729838	D	0.91751	0.7391	N	0.08118	0	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.20955	0.032;0.032;0.032	D	0.84811	0.0790	10	0.48119	T	0.1	-57.5881	8.5116	0.33220	0.0:0.4533:0.397:0.1497	.	432;457;509	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	D	432;454;509;509;509;155;155	ENSP00000437674:G432D;ENSP00000442672:G454D;ENSP00000363973:G509D;ENSP00000363965:G509D;ENSP00000394765:G509D;ENSP00000363963:G155D;ENSP00000363962:G155D	ENSP00000363962:G155D	G	+	2	0	ALPL	21776679	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.553000	0.23391	0.631000	0.30412	-0.322000	0.08575	GGC		0.682	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478	
ESRRG	2104	broad.mit.edu	37	1	216737702	216737702	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216737702A>T	ENST00000408911.3	-	5	874	c.721T>A	c.(721-723)Ttg>Atg	p.L241M	ESRRG_ENST00000391890.3_Missense_Mutation_p.L225M|ESRRG_ENST00000487276.1_Missense_Mutation_p.L218M|ESRRG_ENST00000361395.2_Missense_Mutation_p.L218M|ESRRG_ENST00000361525.3_Missense_Mutation_p.L218M|ESRRG_ENST00000463665.1_Missense_Mutation_p.L179M|ESRRG_ENST00000360012.3_Missense_Mutation_p.L218M|ESRRG_ENST00000493603.1_Missense_Mutation_p.L218M|ESRRG_ENST00000366938.2_Missense_Mutation_p.L218M|ESRRG_ENST00000366940.2_Missense_Mutation_p.L218M|ESRRG_ENST00000366937.1_Missense_Mutation_p.L253M|ESRRG_ENST00000359162.2_Missense_Mutation_p.L218M|ESRRG_ENST00000493748.1_Missense_Mutation_p.L218M	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	241					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L241M(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCACCAACAAATGTGAGACA	0.468																																					p.L218M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T652A	1						.						148.0	126.0	134.0					1																	216737702		2203	4300	6503	214804325	SO:0001583	missense	2104	exon7			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.721T>A	1.37:g.216737702A>T	ENSP00000386171:p.Leu241Met	Somatic		Capture	Illumina HiSeq	Phase_I	214804325	NM_206594	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929724	0.73327	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;0.54;-5.49;-5.49;-5.49	5.56	3.24	0.37175	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	M	0.88775	2.98	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.997;0.988	D;D;P	0.83275	0.996;0.991;0.817	D	0.99104	1.0844	10	0.54805	T	0.06	.	9.9203	0.41459	0.8613:0.0:0.1387:0.0	.	179;253;241	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	M	218;218;253;241;218;218;218;218;218;225;179;218;218;218;218	ENSP00000355225:L218M;ENSP00000355907:L218M;ENSP00000355904:L253M;ENSP00000386171:L241M;ENSP00000352077:L218M;ENSP00000354584:L218M;ENSP00000355905:L218M;ENSP00000353108:L218M;ENSP00000419594:L218M;ENSP00000375761:L225M;ENSP00000418629:L179M;ENSP00000419155:L218M;ENSP00000417374:L218M;ENSP00000419514:L218M	ENSP00000346386:L218M	L	-	1	2	ESRRG	214804325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.674000	0.54598	0.394000	0.25230	0.533000	0.62120	TTG		0.468	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
EPRS	2058	broad.mit.edu	37	1	220170392	220170392	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:220170392G>A	ENST00000366923.3	-	18	2743	c.2474C>T	c.(2473-2475)tCt>tTt	p.S825F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	825	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.S825F(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATCATACAGAGATTTACTTTC	0.403																																					p.S825F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2474T	1						.						112.0	116.0	115.0					1																	220170392		2203	4300	6503	218237015	SO:0001583	missense	2058	exon18			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2474C>T	1.37:g.220170392G>A	ENSP00000355890:p.Ser825Phe	Somatic		Capture	Illumina HiSeq	Phase_I	218237015	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.290049	0.40494	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.31510	1.49	5.67	5.67	0.87782	WHEP-TRS (1);S15/NS1, RNA-binding (2);	0.347258	0.34386	N	0.004003	T	0.39200	0.1069	M	0.62723	1.935	0.42239	D	0.991922	P;B;B	0.39326	0.668;0.232;0.236	B;B;B	0.39660	0.306;0.229;0.077	T	0.34875	-0.9811	10	0.72032	D	0.01	-18.4436	19.7612	0.96319	0.0:0.0:1.0:0.0	.	849;832;825	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	F	825;832;849	ENSP00000355890:S825F	ENSP00000355890:S825F	S	-	2	0	EPRS	218237015	0.997000	0.39634	0.858000	0.33744	0.406000	0.30931	5.076000	0.64413	2.670000	0.90874	0.655000	0.94253	TCT		0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
EPRS	2058	broad.mit.edu	37	1	220208321	220208321	+	Missense_Mutation	SNP	G	G	A	rs529651034		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:220208321G>A	ENST00000366923.3	-	3	435	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	56					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.R56C(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GCCAAGTAGCGAAGTATAGAA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17598	0.0		0.001	False		,,,				2504	0.0				p.R56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	1						.						152.0	142.0	145.0					1																	220208321		2203	4300	6503	218274944	SO:0001583	missense	2058	exon3			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.166C>T	1.37:g.220208321G>A	ENSP00000355890:p.Arg56Cys	Somatic		Capture	Illumina HiSeq	Phase_I	218274944	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551057	0.96501	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.09817	2.94	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.76575	0.667;0.988	T	0.34800	-0.9814	10	0.87932	D	0	-14.555	20.731	0.99711	0.0:0.0:1.0:0.0	.	56;56	Q3KQZ8;P07814	.;SYEP_HUMAN	C	56	ENSP00000355890:R56C	ENSP00000355890:R56C	R	-	1	0	EPRS	218274944	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.944000	0.92980	2.907000	0.99374	0.609000	0.83330	CGC		0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
USP48	84196	broad.mit.edu	37	1	22041932	22041932	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:22041932C>A	ENST00000308271.9	-	15	2561	c.1913G>T	c.(1912-1914)aGa>aTa	p.R638I	USP48_ENST00000529637.1_Missense_Mutation_p.R637I|USP48_ENST00000400301.1_Missense_Mutation_p.R638I|USP48_ENST00000374732.3_Missense_Mutation_p.R176I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	638	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R638I(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTCTTCTTTTCTTTCTTCCTT	0.299																																					p.R638I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1913T	1						.						53.0	55.0	55.0					1																	22041932		2202	4296	6498	21914519	SO:0001583	missense	84196	exon15			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1913G>T	1.37:g.22041932C>A	ENSP00000309262:p.Arg638Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21914519	NM_032236	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130230	0.37630	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.45276	0.93;0.93;0.93;0.9	5.17	2.89	0.33648	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.598222	0.19226	N	0.119543	T	0.25382	0.0617	N	0.22421	0.69	0.43218	D	0.995094	B;B;B;B;B	0.27117	0.02;0.016;0.053;0.016;0.168	B;B;B;B;B	0.22386	0.024;0.012;0.039;0.012;0.039	T	0.08889	-1.0700	10	0.52906	T	0.07	.	6.5207	0.22272	0.0:0.6239:0.0:0.3761	.	637;638;638;638;176	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	I	638;638;176;637	ENSP00000383157:R638I;ENSP00000309262:R638I;ENSP00000363864:R176I;ENSP00000431949:R637I	ENSP00000309262:R638I	R	-	2	0	USP48	21914519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.615000	0.46368	1.157000	0.42530	0.655000	0.94253	AGA		0.299	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
IARS2	55699	broad.mit.edu	37	1	220311332	220311332	+	Missense_Mutation	SNP	G	G	A	rs143722284	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:220311332G>A	ENST00000302637.5	+	17	2226	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	IARS2_ENST00000366922.1_Missense_Mutation_p.E636K|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	708					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.E708K(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTCTTCACCGAAGTTGCAAT	0.403													G|||	6	0.00119808	0.0	0.0	5008	,	,		18533	0.0		0.002	False		,,,				2504	0.0041				p.E708K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2122A	1						.	G	LYS/GLU	0,4406		0,0,2203	151.0	134.0	140.0		2122	6.0	1.0	1	dbSNP_134	140	11,8589	8.4+/-32.0	0,11,4289	yes	missense	IARS2	NM_018060.3	56	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	possibly-damaging	708/1013	220311332	11,12995	2203	4300	6503	218377955	SO:0001583	missense	55699	exon17			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2122G>A	1.37:g.220311332G>A	ENSP00000303279:p.Glu708Lys	Somatic		Capture	Illumina HiSeq	Phase_I	218377955	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.0	4.232682	0.79688	0.0	0.001279	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.42900	0.96;0.96	6.0	6.0	0.97389	Aminoacyl-tRNA synthetase, class Ia (1);	0.141136	0.64402	D	0.000006	T	0.56441	0.1985	M	0.90309	3.105	0.80722	D	1	P	0.50443	0.935	B	0.41917	0.37	T	0.68930	-0.5279	10	0.87932	D	0	-21.1786	18.7361	0.91755	0.0:0.0:1.0:0.0	.	708	Q9NSE4	SYIM_HUMAN	K	636;708	ENSP00000355889:E636K;ENSP00000303279:E708K	ENSP00000303279:E708K	E	+	1	0	IARS2	218377955	1.000000	0.71417	0.953000	0.39169	0.399000	0.30720	9.024000	0.93689	2.864000	0.98301	0.551000	0.68910	GAA		0.403	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
HHIPL2	79802	broad.mit.edu	37	1	222696038	222696038	+	Missense_Mutation	SNP	C	C	T	rs375102365		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222696038C>T	ENST00000343410.6	-	9	2138	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	694					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.V694I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGGCGGACGTGGGGCCCC	0.562																																					p.V694I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2080A	1						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	193.0	210.0	204.0		2080	1.9	0.0	1		204	0,8600		0,0,4300	no	missense	HHIPL2	NM_024746.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	694/725	222696038	1,13005	2203	4300	6503	220762661	SO:0001583	missense	79802	exon9			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.2080G>A	1.37:g.222696038C>T	ENSP00000342118:p.Val694Ile	Somatic		Capture	Illumina HiSeq	Phase_I	220762661	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.256001	0.05829	2.27E-4	0.0	ENSG00000143512	ENST00000343410	T	0.13657	2.57	5.36	1.86	0.25419	.	1.545380	0.03630	N	0.237778	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.14023	0.01	T	0.30327	-0.9982	10	0.37606	T	0.19	-5.6564	7.8668	0.29541	0.0:0.6157:0.2869:0.0974	.	694	Q6UWX4	HIPL2_HUMAN	I	694	ENSP00000342118:V694I	ENSP00000342118:V694I	V	-	1	0	HHIPL2	220762661	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.206000	0.17375	0.576000	0.29452	0.655000	0.94253	GTC		0.562	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
MIA3	375056	broad.mit.edu	37	1	222794513	222794513	+	Missense_Mutation	SNP	G	G	A	rs558711082		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222794513G>A	ENST00000344922.5	+	2	171	c.146G>A	c.(145-147)cGc>cAc	p.R49H	MIA3_ENST00000344507.1_Missense_Mutation_p.R49H|MIA3_ENST00000344441.6_Missense_Mutation_p.R49H|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	49	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R49H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTAATGTACCGCGGTGAGGCT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17558	0.0		0.001	False		,,,				2504	0.0				p.R49H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G146A	1						.						95.0	91.0	92.0					1																	222794513		1819	4082	5901	220861136	SO:0001583	missense	375056	exon2				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.146G>A	1.37:g.222794513G>A	ENSP00000340900:p.Arg49His	Somatic		Capture	Illumina HiSeq	Phase_I	220861136	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145487	0.57044	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	D;D;D	0.82893	-1.66;-1.66;-1.66	5.58	4.66	0.58398	Src homology-3 domain (2);	.	.	.	.	D	0.91005	0.7171	M	0.83953	2.67	0.43149	D	0.994915	D	0.89917	1.0	D	0.72338	0.977	D	0.92411	0.5937	9	0.87932	D	0	.	14.1751	0.65537	0.0723:0.0:0.9277:0.0	.	49	Q5JRA6	MIA3_HUMAN	H	49	ENSP00000340900:R49H;ENSP00000340587:R49H;ENSP00000341348:R49H	ENSP00000325973:R49H	R	+	2	0	MIA3	220861136	1.000000	0.71417	0.928000	0.36995	0.563000	0.35712	6.201000	0.72124	1.342000	0.45619	0.655000	0.94253	CGC		0.363	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MIA3	375056	broad.mit.edu	37	1	222822181	222822181	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222822181G>T	ENST00000344922.5	+	8	3645	c.3620G>T	c.(3619-3621)aGa>aTa	p.R1207I	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R85I	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1207					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1207I(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTGAAGGATAGAGTATATCAA	0.259																																					p.R1207I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3620T	1						.						155.0	148.0	151.0					1																	222822181		1784	4062	5846	220888804	SO:0001583	missense	375056	exon8				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3620G>T	1.37:g.222822181G>T	ENSP00000340900:p.Arg1207Ile	Somatic		Capture	Illumina HiSeq	Phase_I	220888804	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.464229|2.464229	0.43736|0.43736	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000340535|ENST00000354906	T;T|.	0.39056|.	1.1;1.1|.	5.88|5.88	3.79|3.79	0.43588|0.43588	.|.	.|.	.|.	.|.	.|.	T|.	0.73567|.	0.3603|.	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;B;P|.	0.89917|.	1.0;0.318;0.52|.	D;B;B|.	0.76575|.	0.988;0.203;0.203|.	T|.	0.72789|.	-0.4187|.	9|.	0.72032|.	D|.	0.01|.	.|.	9.8659|9.8659	0.41142|0.41142	0.1907:0.0:0.8093:0.0|0.1907:0.0:0.8093:0.0	.|.	1207;85;1207|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	I|Y	1207;85|789	ENSP00000340900:R1207I;ENSP00000345866:R85I|.	ENSP00000345866:R85I|.	R|X	+|+	2|3	0|2	MIA3|MIA3	220888804|220888804	1.000000|1.000000	0.71417|0.71417	0.182000|0.182000	0.23118|0.23118	0.729000|0.729000	0.41735|0.41735	1.705000|1.705000	0.37867|0.37867	0.636000|0.636000	0.30508|0.30508	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.259	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
BROX	148362	broad.mit.edu	37	1	222903411	222903411	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222903411C>T	ENST00000340934.5	+	11	1287	c.881C>T	c.(880-882)aCc>aTc	p.T294I	BROX_ENST00000539697.1_Missense_Mutation_p.T262I|BROX_ENST00000537020.1_Missense_Mutation_p.T294I	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	294	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.T294I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TATGGAGAAACCAAAGGACCT	0.378																																					p.T294I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C881T	1						.						116.0	110.0	112.0					1																	222903411		2203	4300	6503	220970034	SO:0001583	missense	148362	exon11				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.881C>T	1.37:g.222903411C>T	ENSP00000343742:p.Thr294Ile	Somatic		Capture	Illumina HiSeq	Phase_I	220970034	NM_144695	B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.432937	0.83776	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	.	.	.	6.16	6.16	0.99307	BRO1 domain (3);	0.043129	0.85682	D	0.000000	T	0.69628	0.3132	M	0.67953	2.075	0.80722	D	1	P;P;B	0.39352	0.488;0.669;0.343	B;B;B	0.43838	0.132;0.433;0.097	T	0.67256	-0.5716	9	0.45353	T	0.12	-1.0242	20.8598	0.99761	0.0:1.0:0.0:0.0	.	294;262;294	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	I	294;294;262	.	ENSP00000343742:T294I	T	+	2	0	BROX	220970034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.736000	0.68597	2.937000	0.99478	0.650000	0.86243	ACC		0.378	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695	
DISP1	84976	broad.mit.edu	37	1	223116578	223116578	+	Missense_Mutation	SNP	C	C	T	rs375843368		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223116578C>T	ENST00000284476.6	+	2	577	c.413C>T	c.(412-414)aCg>aTg	p.T138M	DISP1_ENST00000360254.2_Missense_Mutation_p.T138M|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	138					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T138M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TATCAGACTACGTGCTGTCTT	0.522																																					p.T138M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	1						.						153.0	111.0	125.0					1																	223116578		2203	4300	6503	221183201	SO:0001583	missense	84976	exon2			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.413C>T	1.37:g.223116578C>T	ENSP00000284476:p.Thr138Met	Somatic		Capture	Illumina HiSeq	Phase_I	221183201	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449834	0.63290	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91631	0.86;-2.88	5.62	5.62	0.85841	.	0.613848	0.16712	N	0.202660	D	0.87752	0.6256	L	0.36672	1.1	0.27993	N	0.935579	P	0.40000	0.698	B	0.28638	0.092	D	0.84314	0.0512	10	0.87932	D	0	-6.9836	19.6445	0.95771	0.0:1.0:0.0:0.0	.	138	Q96F81	DISP1_HUMAN	M	138	ENSP00000355848:T138M;ENSP00000284476:T138M	ENSP00000284476:T138M	T	+	2	0	DISP1	221183201	0.981000	0.34729	0.994000	0.49952	0.993000	0.82548	5.677000	0.68142	2.652000	0.90054	0.650000	0.86243	ACG		0.522	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223176482	223176482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223176482G>A	ENST00000284476.6	+	8	1907	c.1743G>A	c.(1741-1743)tgG>tgA	p.W581*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	581	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.W581*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGATGTTTGGAACTACACAA	0.418																																					p.W581X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1743A	1						.						159.0	150.0	153.0					1																	223176482		2203	4300	6503	221243105	SO:0001587	stop_gained	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1743G>A	1.37:g.223176482G>A	ENSP00000284476:p.Trp581*	Somatic		Capture	Illumina HiSeq	Phase_I	221243105	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Nonsense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	38	7.061926	0.98036	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7767	19.9738	0.97296	0.0:0.0:1.0:0.0	.	.	.	.	X	581	.	ENSP00000284476:W581X	W	+	3	0	DISP1	221243105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	TGG		0.418	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223177199	223177199	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223177199C>T	ENST00000284476.6	+	8	2624	c.2460C>T	c.(2458-2460)agC>agT	p.S820S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	820					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S820S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACATCGCCAGCCCAGCTTCCC	0.458																																					p.S820S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2460T	1						.						56.0	61.0	59.0					1																	223177199		2203	4300	6503	221243822	SO:0001819	synonymous_variant	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2460C>T	1.37:g.223177199C>T		Somatic		Capture	Illumina HiSeq	Phase_I	221243822	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223177816	223177816	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223177816C>A	ENST00000284476.6	+	8	3241	c.3077C>A	c.(3076-3078)tCt>tAt	p.S1026Y		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1026					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S1026Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACTGTTGGTTCTCTTGTCCTG	0.478																																					p.S1026Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3077A	1						.						245.0	222.0	230.0					1																	223177816		2203	4300	6503	221244439	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3077C>A	1.37:g.223177816C>A	ENSP00000284476:p.Ser1026Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	221244439	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585891	0.86748	.	.	ENSG00000154309	ENST00000284476	T	0.14516	2.5	5.95	5.95	0.96441	.	0.093926	0.85682	D	0.000000	T	0.27832	0.0685	L	0.46157	1.445	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	T	0.01626	-1.1309	10	0.02654	T	1	-34.2131	20.3719	0.98893	0.0:1.0:0.0:0.0	.	1026	Q96F81	DISP1_HUMAN	Y	1026	ENSP00000284476:S1026Y	ENSP00000284476:S1026Y	S	+	2	0	DISP1	221244439	1.000000	0.71417	0.721000	0.30653	0.920000	0.55202	7.681000	0.84073	2.826000	0.97356	0.491000	0.48974	TCT		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223178969	223178969	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223178969G>T	ENST00000284476.6	+	8	4394	c.4230G>T	c.(4228-4230)gaG>gaT	p.E1410D		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1410					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.E1410D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCGACCCCGAGAATAAACAAA	0.478																																					p.E1410D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4230T	1						.						73.0	75.0	75.0					1																	223178969		2203	4300	6503	221245592	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4230G>T	1.37:g.223178969G>T	ENSP00000284476:p.Glu1410Asp	Somatic		Capture	Illumina HiSeq	Phase_I	221245592	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333514	0.41297	.	.	ENSG00000154309	ENST00000284476	D	0.92446	-3.04	5.95	0.541	0.17168	.	0.533336	0.20503	N	0.091044	T	0.81861	0.4912	N	0.20986	0.625	0.20703	N	0.999863	B	0.06786	0.001	B	0.04013	0.001	T	0.67948	-0.5538	10	0.36615	T	0.2	-9.3824	3.876	0.09056	0.1311:0.2369:0.5097:0.1224	.	1410	Q96F81	DISP1_HUMAN	D	1410	ENSP00000284476:E1410D	ENSP00000284476:E1410D	E	+	3	2	DISP1	221245592	0.000000	0.05858	0.011000	0.14972	0.176000	0.22953	-0.198000	0.09505	0.080000	0.16959	0.655000	0.94253	GAG		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223179182	223179182	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223179182A>G	ENST00000284476.6	+	8	4607	c.4443A>G	c.(4441-4443)caA>caG	p.Q1481Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1481					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Q1481Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATAATTCACAAAGTTGTGGCA	0.408																																					p.Q1481Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4443G	1						.						69.0	67.0	68.0					1																	223179182		2203	4300	6503	221245805	SO:0001819	synonymous_variant	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4443A>G	1.37:g.223179182A>G		Somatic		Capture	Illumina HiSeq	Phase_I	221245805	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.408	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
TLR5	7100	broad.mit.edu	37	1	223284855	223284855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223284855G>T	ENST00000540964.1	-	4	1980	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	TLR5_ENST00000342210.6_Missense_Mutation_p.L507M			O60602	TLR5_HUMAN	toll-like receptor 5	507			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.L507M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTCAAATACAGAACTTGAAGA	0.423																																					p.L507M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1519A	1						.						82.0	82.0	82.0					1																	223284855		2203	4300	6503	221351478	SO:0001583	missense	7100	exon6				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1519C>A	1.37:g.223284855G>T	ENSP00000440643:p.Leu507Met	Somatic		Capture	Illumina HiSeq	Phase_I	221351478	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942808	0.53079	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.81579	-1.51;-1.51;-1.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93165	0.6561	10	0.87932	D	0	.	12.6956	0.57001	0.0755:0.0:0.9245:0.0	.	507	O60602	TLR5_HUMAN	M	507	ENSP00000440643:L507M;ENSP00000355846:L507M;ENSP00000340089:L507M	ENSP00000340089:L507M	L	-	1	2	TLR5	221351478	0.998000	0.40836	0.099000	0.21106	0.749000	0.42624	2.817000	0.48034	2.575000	0.86900	0.650000	0.86243	CTG		0.423	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
CAPN2	824	broad.mit.edu	37	1	223949290	223949290	+	Missense_Mutation	SNP	G	G	A	rs369320951		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:223949290G>A	ENST00000295006.5	+	13	1846	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.D435N	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	513	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.D513N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CAGAGCTGTCGATGATGAAAT	0.433																																					p.D435N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1303A	1						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	122.0	113.0	116.0		1303,1537	4.9	0.7	1		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CAPN2	NM_001146068.1,NM_001748.4	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	435/623,513/701	223949290	1,13005	2203	4300	6503	222015913	SO:0001583	missense	824	exon13			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1537G>A	1.37:g.223949290G>A	ENSP00000295006:p.Asp513Asn	Somatic		Capture	Illumina HiSeq	Phase_I	222015913	NM_001146068	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091538	0.76756	0.0	1.16E-4	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88896	-2.44;-2.44	4.91	4.91	0.64330	Peptidase C2, calpain, large subunit, domain III (1);	0.130940	0.56097	D	0.000031	D	0.89949	0.6863	L	0.57536	1.79	0.80722	D	1	P;D;P	0.60575	0.612;0.988;0.776	B;P;B	0.48141	0.39;0.568;0.218	D	0.91517	0.5231	10	0.87932	D	0	.	18.4709	0.90774	0.0:0.0:1.0:0.0	.	435;96;513	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	N	435;513;542	ENSP00000413158:D435N;ENSP00000295006:D513N	ENSP00000295006:D513N	D	+	1	0	CAPN2	222015913	1.000000	0.71417	0.722000	0.30670	0.879000	0.50718	7.161000	0.77505	2.439000	0.82584	0.655000	0.94253	GAT		0.433	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
NVL	4931	broad.mit.edu	37	1	224415334	224415334	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:224415334G>A	ENST00000281701.6	-	23	2824	c.2565C>T	c.(2563-2565)agC>agT	p.S855S	NVL_ENST00000340871.4_Silent_p.S666S|RP11-365O16.6_ENST00000420350.1_RNA|NVL_ENST00000482491.1_Silent_p.S579S|NVL_ENST00000391875.2_Silent_p.S749S|NVL_ENST00000469075.1_Silent_p.S764S	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	855						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S855S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GACATCACCGGCTGAGGGACT	0.547																																					p.S855S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2565T	1						.						58.0	54.0	55.0					1																	224415334		2203	4300	6503	222481957	SO:0001819	synonymous_variant	4931	exon23			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2565C>T	1.37:g.224415334G>A		Somatic		Capture	Illumina HiSeq	Phase_I	222481957	NM_002533	B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832526	0.16820	.	.	ENSG00000143748	ENST00000469968	.	.	.	4.9	1.88	0.25563	.	.	.	.	.	T	0.26666	0.0652	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22103	-1.0226	4	.	.	.	-0.9616	5.4358	0.16480	0.1858:0.1643:0.6499:0.0	.	.	.	.	S	738	.	.	P	-	1	0	NVL	222481957	0.009000	0.17119	0.001000	0.08648	0.075000	0.17131	0.368000	0.20399	0.185000	0.20105	-0.136000	0.14681	CCG		0.547	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
NVL	4931	broad.mit.edu	37	1	224475558	224475558	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:224475558G>A	ENST00000281701.6	-	14	1972	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G	NVL_ENST00000361463.3_Silent_p.G465G|NVL_ENST00000340871.4_Silent_p.G382G|NVL_ENST00000482491.1_Silent_p.G295G|NVL_ENST00000391875.2_Silent_p.G465G|NVL_ENST00000469075.1_Silent_p.G480G	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	571						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G571G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAGTGACAAAGCCTTCCCTTT	0.478																																					p.G571G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1713T	1						.						95.0	78.0	83.0					1																	224475558		2203	4300	6503	222542181	SO:0001819	synonymous_variant	4931	exon14			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1713C>T	1.37:g.224475558G>A		Somatic		Capture	Illumina HiSeq	Phase_I	222542181	NM_002533	B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158300	0.21454	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.58	3.72	0.42706	.	.	.	.	.	T	0.62527	0.2435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59043	-0.7528	4	.	.	.	-12.4703	11.8884	0.52615	0.1402:0.0:0.8598:0.0	.	.	.	.	F	454	.	.	L	-	1	0	NVL	222542181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.821000	0.48065	0.730000	0.32425	-0.136000	0.14681	CTT		0.478	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
NVL	4931	broad.mit.edu	37	1	224492855	224492855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:224492855G>T	ENST00000281701.6	-	7	888	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000361463.3_Missense_Mutation_p.S104Y|NVL_ENST00000340871.4_5'UTR|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_Missense_Mutation_p.S104Y|NVL_ENST00000469075.1_Missense_Mutation_p.S119Y	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	210						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S210Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAAAAGAGAAGAATCTTTTGA	0.313																																					p.S210Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629A	1						.						123.0	107.0	113.0					1																	224492855		2203	4300	6503	222559478	SO:0001583	missense	4931	exon7			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.629C>A	1.37:g.224492855G>T	ENSP00000281701:p.Ser210Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	222559478	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.484|0.484	-0.878729|-0.878729	0.02550|0.02550	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000391875;ENST00000469075;ENST00000361463;ENST00000492281;ENST00000488718;ENST00000436927	.|D;D;D;D	.|0.95342	.|-3.57;-3.55;-3.59;-3.68	5.59|5.59	1.29|1.29	0.21616|0.21616	.|.	.|1.072500	.|0.07026	.|N	.|0.827552	D|D	0.89455|0.89455	0.6720|0.6720	L|L	0.46157|0.46157	1.445|1.445	0.21499|0.21499	N|N	0.999666|0.999666	.|B;B	.|0.22346	.|0.047;0.068	.|B;B	.|0.21360	.|0.034;0.015	T|T	0.75382|0.75382	-0.3337|-0.3337	5|10	.|0.14656	.|T	.|0.56	-0.1009|-0.1009	3.0382|3.0382	0.06129|0.06129	0.4515:0.0:0.3385:0.2099|0.4515:0.0:0.3385:0.2099	.|.	.|119;210	.|B4DP98;O15381	.|.;NVL_HUMAN	L|Y	92|210;104;119;104;115;119;106	.|ENSP00000281701:S210Y;ENSP00000375747:S104Y;ENSP00000417826:S119Y;ENSP00000354779:S104Y	.|ENSP00000281701:S210Y	F|S	-|-	3|2	2|0	NVL|NVL	222559478|222559478	0.038000|0.038000	0.19896|0.19896	0.744000|0.744000	0.31058|0.31058	0.742000|0.742000	0.42306|0.42306	0.922000|0.922000	0.28734|0.28734	0.729000|0.729000	0.32403|0.32403	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.313	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
WDR26	80232	broad.mit.edu	37	1	224586628	224586628	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:224586628G>A	ENST00000414423.2	-	10	1721	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	WDR26_ENST00000366852.2_3'UTR|MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000295024.6_Missense_Mutation_p.R363W|WDR26_ENST00000479727.1_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	510						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R363W(1)|p.R510W(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTATAGCCCCGAATTCGCTGG	0.408																																					p.R510W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1528T	1						.						144.0	129.0	134.0					1																	224586628		2203	4300	6503	222653251	SO:0001583	missense	80232	exon10			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1528C>T	1.37:g.224586628G>A	ENSP00000408108:p.Arg510Trp	Somatic		Capture	Illumina HiSeq	Phase_I	222653251	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.916204|4.916204	0.92249|0.92249	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	D;D|.	0.84223|.	-1.82;-1.82|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83436|0.83436	0.5254|0.5254	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85919|0.85919	0.1445|0.1445	10|5	0.54805|.	T|.	0.06|.	.|.	18.5882|18.5882	0.91199|0.91199	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q9H7D7-2|.	.|.	W|L	510;363|143	ENSP00000408108:R510W;ENSP00000295024:R363W|.	ENSP00000295024:R363W|.	R|S	-|-	1|2	2|0	WDR26|WDR26	222653251|222653251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.585000|6.585000	0.74062|0.74062	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.408	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
LBR	3930	broad.mit.edu	37	1	225592162	225592162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:225592162C>T	ENST00000338179.2	-	13	1756	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	LBR_ENST00000272163.4_Missense_Mutation_p.R544H	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	544					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.R544H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATTGGGGTGGCGAACAAAGCC	0.408																																					p.R544H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1631A	1						.						67.0	69.0	69.0					1																	225592162		2203	4300	6503	223658785	SO:0001583	missense	3930	exon13			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1631G>A	1.37:g.225592162C>T	ENSP00000339883:p.Arg544His	Somatic		Capture	Illumina HiSeq	Phase_I	223658785	NM_002296	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.532396|5.532396	0.96446|0.96446	.|.	.|.	ENSG00000143815|ENSG00000143815	ENST00000441022|ENST00000272163;ENST00000338179	.|D;D	.|0.98717	.|-5.09;-5.09	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99399|0.99399	0.9788|0.9788	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71870	.|0.975	D|D	0.98832|0.98832	1.0751|1.0751	5|10	.|0.87932	.|D	.|0	-19.7542|-19.7542	20.3316|20.3316	0.98722|0.98722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|544	.|Q14739	.|LBR_HUMAN	T|H	36|544	.|ENSP00000272163:R544H;ENSP00000339883:R544H	.|ENSP00000272163:R544H	A|R	-|-	1|2	0|0	LBR|LBR	223658785|223658785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.696000|7.696000	0.84270|0.84270	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.408	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
LBR	3930	broad.mit.edu	37	1	225598047	225598047	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:225598047C>A	ENST00000338179.2	-	10	1385	c.1260G>T	c.(1258-1260)atG>atT	p.M420I	LBR_ENST00000272163.4_Missense_Mutation_p.M420I|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	420					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.M420I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TAACTAAAATCATGGCCAAGG	0.423																																					p.M420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1260T	1						.						128.0	126.0	127.0					1																	225598047		2203	4300	6503	223664670	SO:0001583	missense	3930	exon10			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1260G>T	1.37:g.225598047C>A	ENSP00000339883:p.Met420Ile	Somatic		Capture	Illumina HiSeq	Phase_I	223664670	NM_002296	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568368	0.86439	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.97870	-4.58;-4.58;-4.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	L	0.56396	1.775	0.58432	D	0.999999	P	0.37370	0.592	B	0.40329	0.326	D	0.96557	0.9412	10	0.56958	D	0.05	-44.0499	20.5827	0.99408	0.0:1.0:0.0:0.0	.	420	Q14739	LBR_HUMAN	I	420;420;51	ENSP00000272163:M420I;ENSP00000339883:M420I;ENSP00000397817:M51I	ENSP00000272163:M420I	M	-	3	0	LBR	223664670	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.995000	0.70631	2.941000	0.99782	0.655000	0.94253	ATG		0.423	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
EPHX1	2052	broad.mit.edu	37	1	226016446	226016446	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226016446C>A	ENST00000366837.4	+	2	212	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	EPHX1_ENST00000272167.5_Missense_Mutation_p.L6I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	6					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.L6I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTAGAAATCCTCCTCACTTC	0.587																																					p.L6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16A	1						.						48.0	46.0	47.0					1																	226016446		2203	4300	6503	224083069	SO:0001583	missense	2052	exon2			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.16C>A	1.37:g.226016446C>A	ENSP00000355802:p.Leu6Ile	Somatic		Capture	Illumina HiSeq	Phase_I	224083069	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872574	0.02570	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.18810	2.46;3.6;2.19;3.6	5.0	-4.72	0.03269	.	0.415117	0.26262	N	0.025384	T	0.06234	0.0161	N	0.17082	0.46	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.34850	-0.9812	10	0.06236	T	0.91	-3.0629	1.1735	0.01830	0.3054:0.315:0.2032:0.1764	.	6	P07099	HYEP_HUMAN	I	6	ENSP00000398491:L6I;ENSP00000272167:L6I;ENSP00000408469:L6I;ENSP00000355802:L6I	ENSP00000272167:L6I	L	+	1	0	EPHX1	224083069	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-1.199000	0.03032	-0.748000	0.04753	-0.475000	0.04921	CTC		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
SDE2	163859	broad.mit.edu	37	1	226180176	226180176	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226180176T>G	ENST00000272091.7	-	4	461	c.443A>C	c.(442-444)aAg>aCg	p.K148T		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	148								p.K136T(1)									GAAGCAGTGCTTGGGTTCTAC	0.552																																					p.K148T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A443C	1						.						97.0	98.0	98.0					1																	226180176		1971	4176	6147	224246799	SO:0001583	missense	163859	exon4			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.443A>C	1.37:g.226180176T>G	ENSP00000272091:p.Lys148Thr	Somatic		Capture	Illumina HiSeq	Phase_I	224246799	NM_152608	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992027	0.54041	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.57107	0.44;0.42	5.5	3.29	0.37713	.	0.279961	0.43579	D	0.000547	T	0.62998	0.2474	M	0.86864	2.845	0.29565	N	0.850302	D;P	0.56746	0.977;0.849	P;B	0.53593	0.73;0.345	T	0.63278	-0.6673	10	0.56958	D	0.05	-3.2987	4.1063	0.10038	0.0:0.2296:0.187:0.5835	.	136;148	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	T	148;136;53	ENSP00000272091:K148T;ENSP00000355782:K53T	ENSP00000272091:K148T	K	-	2	0	C1orf55	224246799	1.000000	0.71417	0.742000	0.31022	0.891000	0.51852	3.429000	0.52800	0.492000	0.27815	0.529000	0.55759	AAG		0.552	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608	
LIN9	286826	broad.mit.edu	37	1	226421140	226421140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226421140G>A	ENST00000328205.5	-	13	1923	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	LIN9_ENST00000481685.1_Missense_Mutation_p.R425W|LIN9_ENST00000366801.1_Missense_Mutation_p.R409W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	444					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.R460W(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTGCATGCCGAACAATTTCC	0.443																																					p.R460W	Ovarian(197;1696 2974 11248 14117)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1378T	1						.						163.0	156.0	158.0					1																	226421140		2203	4300	6503	224487763	SO:0001583	missense	286826	exon13			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1378C>T	1.37:g.226421140G>A	ENSP00000329102:p.Arg460Trp	Somatic		Capture	Illumina HiSeq	Phase_I	224487763	NM_173083	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850583	0.71719	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.54	3.47	0.39725	.	0.054217	0.64402	D	0.000001	T	0.52869	0.1761	L	0.36672	1.1	0.50813	D	0.99989	D;D;D	0.71674	0.996;0.998;0.998	B;P;P	0.54590	0.424;0.613;0.756	T	0.56347	-0.7994	9	0.72032	D	0.01	.	10.4971	0.44783	0.0829:0.0:0.7378:0.1792	.	425;444;594	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	W	420;460;515;409;425	.	ENSP00000329102:R460W	R	-	1	2	LIN9	224487763	0.993000	0.37304	0.980000	0.43619	0.981000	0.71138	1.999000	0.40806	1.332000	0.45431	0.591000	0.81541	CGG		0.443	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	
LIN9	286826	broad.mit.edu	37	1	226474059	226474059	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226474059G>A	ENST00000328205.5	-	6	1092	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	LIN9_ENST00000481685.1_Missense_Mutation_p.R148W|LIN9_ENST00000366801.1_Missense_Mutation_p.R132W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	167	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.R183W(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATAAGCCGCCGAATTTTTCCC	0.333																																					p.R183W	Ovarian(197;1696 2974 11248 14117)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	1						.						66.0	72.0	70.0					1																	226474059		2202	4298	6500	224540682	SO:0001583	missense	286826	exon6			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.547C>T	1.37:g.226474059G>A	ENSP00000329102:p.Arg183Trp	Somatic		Capture	Illumina HiSeq	Phase_I	224540682	NM_173083	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937382	0.73557	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.993;0.998	D	0.87963	0.2731	9	0.87932	D	0	.	13.2722	0.60167	0.0:0.0:0.1338:0.8662	.	148;167;317	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	W	143;183;238;132;148;317	.	ENSP00000329102:R183W	R	-	1	2	LIN9	224540682	1.000000	0.71417	0.995000	0.50966	0.920000	0.55202	3.804000	0.55568	1.041000	0.40125	-0.256000	0.11100	CGG		0.333	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	
PARP1	142	broad.mit.edu	37	1	226551745	226551745	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226551745G>A	ENST00000366794.5	-	20	2828	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	895	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I895I(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAGCGAAATAGATCCCTTTAC	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.I895I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2685T	1						.						124.0	114.0	117.0					1																	226551745		2203	4300	6503	224618368	SO:0001819	synonymous_variant	142	exon20			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2685C>T	1.37:g.226551745G>A		Somatic		Capture	Illumina HiSeq	Phase_I	224618368	NM_001618	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.488	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
PARP1	142	broad.mit.edu	37	1	226552798	226552798	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226552798G>T	ENST00000366794.5	-	19	2706	c.2563C>A	c.(2563-2565)Cat>Aat	p.H855N	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	855	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H855N(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTCGGTTATGAAGCTGCTTA	0.522								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.H855N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2563A	1						.						75.0	73.0	74.0					1																	226552798		2203	4300	6503	224619421	SO:0001583	missense	142	exon19			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2563C>A	1.37:g.226552798G>T	ENSP00000355759:p.His855Asn	Somatic		Capture	Illumina HiSeq	Phase_I	224619421	NM_001618	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278984	0.95489	.	.	ENSG00000143799	ENST00000366794	T	0.13778	2.56	5.84	5.84	0.93424	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.188970	0.56097	D	0.000026	T	0.22399	0.0540	M	0.62154	1.92	0.80722	D	1	B	0.27140	0.169	B	0.34242	0.178	T	0.02365	-1.1170	10	0.27082	T	0.32	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	855	P09874	PARP1_HUMAN	N	855	ENSP00000355759:H855N	ENSP00000355759:H855N	H	-	1	0	PARP1	224619421	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.837000	0.99465	2.779000	0.95612	0.655000	0.94253	CAT		0.522	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
ITPKB	3707	broad.mit.edu	37	1	226827298	226827298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226827298T>C	ENST00000272117.3	-	5	2512	c.2513A>G	c.(2512-2514)gAg>gGg	p.E838G	ITPKB_ENST00000429204.1_Missense_Mutation_p.E838G			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	838					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E364G(1)|p.E838G(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTGAAGGCCTCGGTGACCTG	0.562																																					p.E838G	Colon(84;110 1851 5306 33547)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2513G	1						.						192.0	174.0	180.0					1																	226827298		2203	4300	6503	224893921	SO:0001583	missense	3707	exon6			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2513A>G	1.37:g.226827298T>C	ENSP00000272117:p.Glu838Gly	Somatic		Capture	Illumina HiSeq	Phase_I	224893921	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836690	0.50951	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14640	2.49;2.49	4.33	4.33	0.51752	.	0.365437	0.30365	N	0.009800	T	0.19046	0.0457	L	0.53729	1.69	0.38994	D	0.959216	B	0.23591	0.088	B	0.35278	0.199	T	0.06232	-1.0838	10	0.44086	T	0.13	-3.488	13.5625	0.61797	0.0:0.0:0.0:1.0	.	838	P27987	IP3KB_HUMAN	G	838	ENSP00000272117:E838G;ENSP00000411152:E838G	ENSP00000272117:E838G	E	-	2	0	ITPKB	224893921	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	3.733000	0.55029	1.613000	0.50231	0.369000	0.22263	GAG		0.562	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	
ITPKB	3707	broad.mit.edu	37	1	226923323	226923323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226923323C>T	ENST00000272117.3	-	1	1836	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	ITPKB_ENST00000429204.1_Missense_Mutation_p.E613K|ITPKB_ENST00000366784.1_Missense_Mutation_p.E613K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	613					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E139K(1)|p.E139*(1)|p.E613*(1)|p.E613K(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTGAGTCTTCGTAGGATGAG	0.612																																					p.E613K	Colon(84;110 1851 5306 33547)											.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)	c.G1837A	1						.						97.0	90.0	92.0					1																	226923323		2203	4300	6503	224989946	SO:0001583	missense	3707	exon2			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1837G>A	1.37:g.226923323C>T	ENSP00000272117:p.Glu613Lys	Somatic		Capture	Illumina HiSeq	Phase_I	224989946	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489320	0.84962	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.35421	1.68;1.68;1.31	5.68	5.68	0.88126	.	0.338132	0.33610	N	0.004732	T	0.32406	0.0828	N	0.19112	0.55	0.49798	D	0.999829	D	0.58620	0.983	P	0.44597	0.454	T	0.14699	-1.0463	10	0.72032	D	0.01	-4.8817	20.14	0.98056	0.0:1.0:0.0:0.0	.	613	P27987	IP3KB_HUMAN	K	613	ENSP00000272117:E613K;ENSP00000411152:E613K;ENSP00000355748:E613K	ENSP00000272117:E613K	E	-	1	0	ITPKB	224989946	1.000000	0.71417	0.373000	0.26003	0.947000	0.59692	6.487000	0.73633	2.837000	0.97791	0.591000	0.81541	GAA		0.612	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	
ITPKB	3707	broad.mit.edu	37	1	226923524	226923524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:226923524C>T	ENST00000272117.3	-	1	1635	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ITPKB_ENST00000429204.1_Missense_Mutation_p.E546K|ITPKB_ENST00000366784.1_Missense_Mutation_p.E546K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	546					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E72K(1)|p.E546K(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGTAGCAGCTCCGGACTTGGG	0.597																																					p.E546K	Colon(84;110 1851 5306 33547)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1636A	1						.						42.0	40.0	41.0					1																	226923524		2203	4300	6503	224990147	SO:0001583	missense	3707	exon2			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1636G>A	1.37:g.226923524C>T	ENSP00000272117:p.Glu546Lys	Somatic		Capture	Illumina HiSeq	Phase_I	224990147	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519204	0.44866	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.26373	1.81;1.81;1.74	5.43	4.47	0.54385	.	0.797485	0.11709	N	0.537124	T	0.20455	0.0492	N	0.24115	0.695	0.09310	N	1	B	0.18741	0.03	B	0.21151	0.033	T	0.18713	-1.0328	10	0.34782	T	0.22	-9.5195	13.8881	0.63721	0.0:0.6256:0.3744:0.0	.	546	P27987	IP3KB_HUMAN	K	546	ENSP00000272117:E546K;ENSP00000411152:E546K;ENSP00000355748:E546K	ENSP00000272117:E546K	E	-	1	0	ITPKB	224990147	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.431000	0.21444	1.290000	0.44636	0.491000	0.48974	GAG		0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	
PSEN2	5664	broad.mit.edu	37	1	227071564	227071564	+	Silent	SNP	C	C	T	rs200801915	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:227071564C>T	ENST00000366783.3	+	5	736	c.300C>T	c.(298-300)atC>atT	p.I100I	PSEN2_ENST00000366782.1_Silent_p.I133I|PSEN2_ENST00000340188.4_Silent_p.I100I|PSEN2_ENST00000391872.2_Silent_p.I133I|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000422240.2_Silent_p.I100I	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	100					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.I100I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGTGCATGATCGTGGTGGTAG	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		14098	0.0		0.002	False		,,,				2504	0.0				p.I100I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	1						.						119.0	106.0	110.0					1																	227071564		2203	4300	6503	225138187	SO:0001819	synonymous_variant	5664	exon5			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.300C>T	1.37:g.227071564C>T		Somatic		Capture	Illumina HiSeq	Phase_I	225138187	NM_000447	A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	CCDS1556.1																																																																																				0.607	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447	
CDC42BPA	8476	broad.mit.edu	37	1	227259952	227259952	+	Silent	SNP	G	G	A	rs55845581		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:227259952G>A	ENST00000366769.3	-	20	4075	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	CDC42BPA_ENST00000535525.1_Silent_p.I928I|CDC42BPA_ENST00000366767.3_Silent_p.I847I|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Silent_p.I928I|CDC42BPA_ENST00000334218.5_Silent_p.I928I|CDC42BPA_ENST00000366766.2_Silent_p.I928I|CDC42BPA_ENST00000366765.3_Silent_p.I928I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.I928I(2)|p.I847I(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAGCTGTTCGATTTCTGAGA	0.333																																					p.I847I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2541T	1						.						178.0	166.0	170.0					1																	227259952		2203	4300	6503	225326575	SO:0001819	synonymous_variant	8476	exon19			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2784C>T	1.37:g.227259952G>A		Somatic		Capture	Illumina HiSeq	Phase_I	225326575	NM_014826		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866386	0.17250	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2458	0.31686	0.2399:0.0758:0.5353:0.1491	rs55845581	.	.	.	X	131;222;102	.	.	R	-	1	2	CDC42BPA	225326575	0.009000	0.17119	0.060000	0.19600	0.963000	0.63663	-1.362000	0.02595	-3.760000	0.00110	-0.423000	0.05987	CGA		0.333	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
ZNF678	339500	broad.mit.edu	37	1	227843092	227843092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:227843092G>T	ENST00000343776.5	+	4	1486	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E436*|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E381*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAAATGCAAAGAATGTGGCAA	0.383																																					p.E436X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1306T	1						.						38.0	42.0	41.0					1																	227843092		2199	4298	6497	225909715	SO:0001587	stop_gained	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1141G>T	1.37:g.227843092G>T	ENSP00000344828:p.Glu381*	Somatic		Capture	Illumina HiSeq	Phase_I	225909715	NM_178549	Q8IVQ9	Nonsense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	14.44	2.535509	0.45176	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	.	.	.	1.63	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.1842	0.37160	0.0:0.0:1.0:0.0	.	.	.	.	X	381;436	.	ENSP00000344828:E381X	E	+	1	0	ZNF678	225909715	0.001000	0.12720	0.184000	0.23157	0.056000	0.15407	0.544000	0.23253	0.792000	0.33850	0.609000	0.83330	GAA		0.383	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ARF1	375	broad.mit.edu	37	1	228285654	228285654	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:228285654C>T	ENST00000541182.1	+	5	748	c.486C>T	c.(484-486)agC>agT	p.S162S	C1orf35_ENST00000472617.1_5'Flank|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000272102.5_Silent_p.S162S|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.S162S	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	162					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.S162S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCGCCACCAGCGGCGACGGGC	0.612																																					p.S162S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C486T	1						.						70.0	63.0	65.0					1																	228285654		2203	4300	6503	226352277	SO:0001819	synonymous_variant	375	exon5			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.486C>T	1.37:g.228285654C>T		Somatic		Capture	Illumina HiSeq	Phase_I	226352277	NM_001024226	P10947|P32889	Silent	SNP	ENST00000541182.1	37	CCDS1565.1																																																																																				0.612	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227	
HIST3H3	8290	broad.mit.edu	37	1	228612809	228612809	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:228612809C>T	ENST00000366696.1	-	1	217	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	73					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R73H(1)		large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGCGATCTCGCGCATCAGCCG	0.642																																					p.R73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	1						.						84.0	84.0	84.0					1																	228612809		2203	4300	6503	226679432	SO:0001583	missense	8290	exon1			Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.218G>A	1.37:g.228612809C>T	ENSP00000355657:p.Arg73His	Somatic		Capture	Illumina HiSeq	Phase_I	226679432	NM_003493	B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	c	10.69	1.420199	0.25552	.	.	ENSG00000168148	ENST00000366696	T	0.77620	-1.11	3.83	1.9	0.25705	Histone-fold (2);Histone core (1);	0.000000	0.39834	N	0.001259	D	0.89605	0.6763	H	0.96269	3.795	0.28367	N	0.920172	D	0.89917	1.0	D	0.91635	0.999	T	0.82020	-0.0664	10	0.66056	D	0.02	.	7.3987	0.26952	0.0:0.732:0.1697:0.0983	.	73	Q16695	H31T_HUMAN	H	73	ENSP00000355657:R73H	ENSP00000355657:R73H	R	-	2	0	HIST3H3	226679432	0.231000	0.23751	0.258000	0.24420	0.002000	0.02628	2.254000	0.43214	0.550000	0.28991	-0.189000	0.12847	CGC		0.642	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493	
EPHA8	2046	broad.mit.edu	37	1	22915792	22915792	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:22915792C>A	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.L470M|EPHA8_ENST00000374644.4_Missense_Mutation_p.L470M	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L470M(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGGGACGTGCTGTGGGCCTT	0.612																																					p.L470M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408A	1						.						43.0	45.0	44.0					1																	22915792		2203	4300	6503	22788379	SO:0001627	intron_variant	2046	exon5			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+93C>A	1.37:g.22915792C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22788379	NM_001006943	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977136	0.18812	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01313	5.02;5.02	2.97	0.92	0.19397	.	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	B	0.30664	0.289	B	0.41946	0.371	T	0.50668	-0.8801	7	.	.	.	.	4.3695	0.11241	0.0:0.5897:0.267:0.1433	.	470	P29322-2	.	M	470	ENSP00000363775:L470M;ENSP00000440274:L470M	.	L	+	1	2	EPHA8	22788379	0.000000	0.05858	0.002000	0.10522	0.183000	0.23260	0.107000	0.15375	0.249000	0.21456	0.313000	0.20887	CTG		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
NUP133	55746	broad.mit.edu	37	1	229602465	229602465	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:229602465C>T	ENST00000261396.3	-	16	2206	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	NUP133_ENST00000537506.1_Silent_p.E689E	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	705					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.E705E(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCCTCATGCTCCAGTAAGC	0.393																																					p.E705E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2115A	1						.						137.0	115.0	123.0					1																	229602465		2203	4300	6503	227669088	SO:0001819	synonymous_variant	55746	exon16				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2115G>A	1.37:g.229602465C>T		Somatic		Capture	Illumina HiSeq	Phase_I	227669088	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.393	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
GALNT2	2590	broad.mit.edu	37	1	230401052	230401052	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:230401052T>A	ENST00000366672.4	+	14	1451	c.1379T>A	c.(1378-1380)tTg>tAg	p.L460*	RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Nonsense_Mutation_p.L422*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	460	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L460*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTCGACACTTTGGGACACTTT	0.517																																					p.L460X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1379A	1						.						324.0	292.0	303.0					1																	230401052		2203	4300	6503	228467675	SO:0001587	stop_gained	2590	exon14			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1379T>A	1.37:g.230401052T>A	ENSP00000355632:p.Leu460*	Somatic		Capture	Illumina HiSeq	Phase_I	228467675	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Nonsense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	T	40	8.282872	0.98742	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.3223	0.74132	0.0:0.0:0.0:1.0	.	.	.	.	X	422;460;341	.	ENSP00000355632:L460X	L	+	2	0	GALNT2	228467675	1.000000	0.71417	0.932000	0.37286	0.963000	0.63663	8.024000	0.88770	2.020000	0.59435	0.459000	0.35465	TTG		0.517	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
EPHB2	2048	broad.mit.edu	37	1	23189571	23189571	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23189571G>A	ENST00000400191.3	+	4	871	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	EPHB2_ENST00000374630.3_Missense_Mutation_p.A285T|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374632.3_Missense_Mutation_p.A285T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A285T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A279T|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	285	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.A285T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGGGATGAGGCCTGTACCCA	0.562																																					p.A285T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853A	1						.						123.0	121.0	122.0					1																	23189571		2203	4300	6503	23062158	SO:0001583	missense	2048	exon4			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.853G>A	1.37:g.23189571G>A	ENSP00000383053:p.Ala285Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23062158	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.564225	0.27915	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	4.97	4.97	0.65823	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.660462	0.14671	N	0.305377	T	0.12603	0.0306	N	0.14661	0.345	0.22666	N	0.998877	B;B;B;B	0.15719	0.014;0.002;0.001;0.0	B;B;B;B	0.19666	0.002;0.026;0.016;0.006	T	0.17715	-1.0360	10	0.23891	T	0.37	.	16.9656	0.86285	0.0:0.0:1.0:0.0	.	285;285;303;285	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	285;285;285;285;285;279	ENSP00000444174:A285T;ENSP00000363761:A285T;ENSP00000383053:A285T;ENSP00000363763:A285T;ENSP00000363758:A279T	ENSP00000363755:A285T	A	+	1	0	EPHB2	23062158	0.000000	0.05858	0.991000	0.47740	0.804000	0.45430	0.868000	0.27982	2.582000	0.87167	0.561000	0.74099	GCC		0.562	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
EPHB2	2048	broad.mit.edu	37	1	23191577	23191577	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23191577G>A	ENST00000400191.3	+	5	1193	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	EPHB2_ENST00000374630.3_Missense_Mutation_p.R392H|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374632.3_Missense_Mutation_p.R392H|EPHB2_ENST00000544305.1_Missense_Mutation_p.R392H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R386H|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	392	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R392H(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGAGCCACGCATTTACATC	0.617																																					p.R392H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1175A	1						.						102.0	84.0	90.0					1																	23191577		2203	4300	6503	23064164	SO:0001583	missense	2048	exon5			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1175G>A	1.37:g.23191577G>A	ENSP00000383053:p.Arg392His	Somatic		Capture	Illumina HiSeq	Phase_I	23064164	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.165010	0.57476	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.13	5.13	0.70059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063700	0.64402	D	0.000009	T	0.58552	0.2130	M	0.69463	2.115	0.43761	D	0.996279	B;B;B;B	0.24823	0.076;0.112;0.063;0.051	B;B;B;B	0.26969	0.02;0.075;0.052;0.031	T	0.56171	-0.8023	10	0.35671	T	0.21	.	17.313	0.87214	0.0:0.0:1.0:0.0	.	392;392;410;392	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	H	392;392;392;392;392;386	ENSP00000444174:R392H;ENSP00000363761:R392H;ENSP00000383053:R392H;ENSP00000363763:R392H;ENSP00000363758:R386H	ENSP00000363755:R392H	R	+	2	0	EPHB2	23064164	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.463000	0.73530	2.667000	0.90743	0.462000	0.41574	CGC		0.617	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
EXOC8	149371	broad.mit.edu	37	1	231471921	231471921	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:231471921A>G	ENST00000360394.2	-	1	1657	c.1571T>C	c.(1570-1572)gTg>gCg	p.V524A	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.V520A|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	524					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V524A(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCCTTAGCCACTTTTACACA	0.507																																					p.V524A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1571C	1						.						115.0	101.0	106.0					1																	231471921		2203	4300	6503	229538544	SO:0001583	missense	149371	exon1			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1571T>C	1.37:g.231471921A>G	ENSP00000353564:p.Val524Ala	Somatic		Capture	Illumina HiSeq	Phase_I	229538544	NM_175876	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254149	0.22965	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78246	-1.16;-1.16	4.91	4.91	0.64330	Cullin repeat-like-containing domain (1);	0.071677	0.56097	D	0.000035	T	0.64746	0.2626	L	0.31664	0.95	0.80722	D	1	P	0.36683	0.565	B	0.30855	0.121	T	0.64799	-0.6322	10	0.27785	T	0.31	-24.7486	14.7096	0.69218	1.0:0.0:0.0:0.0	.	524	Q8IYI6	EXOC8_HUMAN	A	524;520	ENSP00000353564:V524A;ENSP00000355605:V520A	ENSP00000353564:V524A	V	-	2	0	EXOC8	229538544	1.000000	0.71417	0.689000	0.30133	0.774000	0.43823	9.139000	0.94554	2.053000	0.61076	0.533000	0.62120	GTG		0.507	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
SIPA1L2	57568	broad.mit.edu	37	1	232601014	232601014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:232601014G>A	ENST00000366630.1	-	8	2750	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R798*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	798	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R798*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCATTGCTCGAAACTTTTCT	0.468																																					p.R798X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2392T	1						.						102.0	102.0	102.0					1																	232601014		1955	4187	6142	230667637	SO:0001587	stop_gained	57568	exon7			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2392C>T	1.37:g.232601014G>A	ENSP00000355589:p.Arg798*	Somatic		Capture	Illumina HiSeq	Phase_I	230667637	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	44	10.807628	0.99470	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8039	14.845	0.70254	0.0:0.0:0.8562:0.1438	.	.	.	.	X	798	.	ENSP00000262861:R798X	R	-	1	2	SIPA1L2	230667637	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	4.629000	0.61290	2.733000	0.93635	0.650000	0.86243	CGA		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SIPA1L2	57568	broad.mit.edu	37	1	232650180	232650180	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:232650180G>A	ENST00000366630.1	-	2	1264	c.906C>T	c.(904-906)caC>caT	p.H302H	SIPA1L2_ENST00000262861.4_Silent_p.H302H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	302					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.H302H(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGAAAGTTTCGTGCTCACTTT	0.488																																					p.H302H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	1						.						60.0	62.0	62.0					1																	232650180		1926	4134	6060	230716803	SO:0001819	synonymous_variant	57568	exon1			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.906C>T	1.37:g.232650180G>A		Somatic		Capture	Illumina HiSeq	Phase_I	230716803	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
MAP10	54627	broad.mit.edu	37	1	232942265	232942265	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:232942265C>T	ENST00000418460.1	+	1	1623	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	357					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.S499F(2)									CATCCAAGTTCTGCAGCACAC	0.408																																					p.S499F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1496T	1						.						72.0	71.0	71.0					1																	232942265		1942	4137	6079	231008888	SO:0001583	missense	54627	exon1			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1496C>T	1.37:g.232942265C>T	ENSP00000403208:p.Ser499Phe	Somatic		Capture	Illumina HiSeq	Phase_I	231008888	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292931	0.40594	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.54	0.526	0.17078	.	0.497744	0.14618	U	0.308570	T	0.40272	0.1110	M	0.63428	1.95	0.09310	N	1	B	0.18610	0.029	B	0.17433	0.018	T	0.40515	-0.9559	9	0.72032	D	0.01	-2.8394	5.209	0.15307	0.0:0.5896:0.1505:0.2599	.	357	Q9P2G4	K1383_HUMAN	F	499	.	ENSP00000403208:S499F	S	+	2	0	KIAA1383	231008888	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.403000	0.07214	0.112000	0.17975	-0.140000	0.14226	TCT		0.408	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090	
PCNXL2	80003	broad.mit.edu	37	1	233134043	233134043	+	Silent	SNP	G	G	A	rs548311730		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:233134043G>A	ENST00000258229.9	-	32	5979	c.5745C>T	c.(5743-5745)ggC>ggT	p.G1915G	PCNXL2_ENST00000344698.2_Silent_p.G567G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1915						integral component of membrane (GO:0016021)		p.G1915G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTGAGCACCGCCTTTTCTGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18796	0.001		0.0	False		,,,				2504	0.0				p.G1915G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5745T	1						.						44.0	47.0	46.0					1																	233134043		2045	4204	6249	231200666	SO:0001819	synonymous_variant	80003	exon32			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5745C>T	1.37:g.233134043G>A		Somatic		Capture	Illumina HiSeq	Phase_I	231200666	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																				0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233135110	233135110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:233135110C>T	ENST00000258229.9	-	31	5578	c.5344G>A	c.(5344-5346)Gtc>Atc	p.V1782I	PCNXL2_ENST00000344698.2_Missense_Mutation_p.V434I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1782						integral component of membrane (GO:0016021)		p.V1782I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGTCCTCGGACGCATTCTTTG	0.483																																					p.V1782I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5344A	1						.						17.0	18.0	18.0					1																	233135110		1892	4130	6022	231201733	SO:0001583	missense	80003	exon31			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5344G>A	1.37:g.233135110C>T	ENSP00000258229:p.Val1782Ile	Somatic		Capture	Illumina HiSeq	Phase_I	231201733	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428016	0.62733	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.56444	0.46;0.46	5.56	4.63	0.57726	.	0.111229	0.64402	D	0.000011	T	0.74981	0.3788	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.80190	-0.1485	10	0.87932	D	0	.	16.3102	0.82865	0.0:0.8674:0.1326:0.0	.	1782;434	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	I	434;1782	ENSP00000340759:V434I;ENSP00000258229:V1782I	ENSP00000258229:V1782I	V	-	1	0	PCNXL2	231201733	1.000000	0.71417	0.090000	0.20809	0.075000	0.17131	7.460000	0.80816	1.314000	0.45095	0.555000	0.69702	GTC		0.483	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
KIAA1804	84451	broad.mit.edu	37	1	233490744	233490744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:233490744G>A	ENST00000366624.3	+	4	1559	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	MLK4_ENST00000366623.3_Missense_Mutation_p.R433K	NM_032435.2	NP_115811.2												p.R433K(1)									GATGAGTTGAGAACAAAGGAA	0.348																																					p.R433K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1298A	1						.						61.0	59.0	60.0					1																	233490744		2203	4300	6503	231557367	SO:0001583	missense	84451	exon4																														ENST00000366624.3:c.1298G>A	1.37:g.233490744G>A	ENSP00000355583:p.Arg433Lys	Somatic		Capture	Illumina HiSeq	Phase_I	231557367	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561989	0.65538	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.76709	-0.83;-1.04	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	M	0.69358	2.11	0.80722	D	1	P;P	0.51351	0.944;0.498	P;B	0.51385	0.668;0.254	T	0.76929	-0.2777	10	0.14252	T	0.57	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	433;433	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	K	433	ENSP00000355582:R433K;ENSP00000355583:R433K	ENSP00000355582:R433K	R	+	2	0	RP5-862P8.2	231557367	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.618000	0.98365	2.832000	0.97577	0.655000	0.94253	AGA		0.348	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
KIAA1804	84451	broad.mit.edu	37	1	233497801	233497801	+	Missense_Mutation	SNP	G	G	T	rs375663065		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:233497801G>T	ENST00000366624.3	+	5	1575	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	MLK4_ENST00000366623.3_Missense_Mutation_p.E438D	NM_032435.2	NP_115811.2												p.E438D(1)									TGTCGCAGGAGCTGCGATCCC	0.612																																					p.E438D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1314T	1						.	G	ASP/GLU	0,4398		0,0,2199	19.0	23.0	22.0		1314	1.6	1.0	1		22	1,8599		0,1,4299	no	missense	KIAA1804	NM_032435.2	45	0,1,6498	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	438/1037	233497801	1,12997	2199	4300	6499	231564424	SO:0001583	missense	84451	exon5																														ENST00000366624.3:c.1314G>T	1.37:g.233497801G>T	ENSP00000355583:p.Glu438Asp	Somatic		Capture	Illumina HiSeq	Phase_I	231564424	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370889	0.61624	0.0	1.16E-4	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.78246	-0.93;-1.16	4.77	1.65	0.23941	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.83885	0.0281	10	0.39692	T	0.17	.	10.5977	0.45347	0.2484:0.0:0.7516:0.0	.	438;438	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	438	ENSP00000355582:E438D;ENSP00000355583:E438D	ENSP00000355582:E438D	E	+	3	2	RP5-862P8.2	231564424	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.002000	0.57053	0.611000	0.30052	-0.136000	0.14681	GAG		0.612	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
LUZP1	7798	broad.mit.edu	37	1	23420714	23420714	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23420714C>T	ENST00000302291.4	-	4	842	c.41G>A	c.(40-42)cGc>cAc	p.R14H	LUZP1_ENST00000418342.1_Missense_Mutation_p.R14H|LUZP1_ENST00000374623.3_Missense_Mutation_p.R14H|LUZP1_ENST00000314174.5_Missense_Mutation_p.R14H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	14					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R14H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCGCAAGTGGCGGCTGGAGGC	0.527																																					p.R14H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	1						.						58.0	60.0	60.0					1																	23420714		2203	4300	6503	23293301	SO:0001583	missense	7798	exon3			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.41G>A	1.37:g.23420714C>T	ENSP00000303758:p.Arg14His	Somatic		Capture	Illumina HiSeq	Phase_I	23293301	NM_001142546	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684538	0.88639	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849;ENST00000475164	T;T;T;T;T	0.57752	1.65;1.65;1.65;1.44;0.38	5.88	5.88	0.94601	.	0.000000	0.49305	D	0.000147	T	0.75867	0.3908	M	0.80183	2.485	0.48762	D	0.999707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77784	-0.2458	10	0.87932	D	0	.	19.2091	0.93747	0.0:1.0:0.0:0.0	.	14;14	Q86V48-2;Q86V48	.;LUZP1_HUMAN	H	14	ENSP00000393460:R14H;ENSP00000363752:R14H;ENSP00000303758:R14H;ENSP00000313705:R14H;ENSP00000428061:R14H	ENSP00000303758:R14H	R	-	2	0	LUZP1	23293301	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.792000	0.96026	0.555000	0.69702	CGC		0.527	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631	
TARBP1	6894	broad.mit.edu	37	1	234603259	234603259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:234603259C>A	ENST00000040877.1	-	4	1236	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	413					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.E413*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAAAATTCTGGTGAAAAT	0.363																																					p.E413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1237T	1						.						106.0	105.0	106.0					1																	234603259		2203	4300	6503	232669882	SO:0001587	stop_gained	6894	exon4				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1237G>T	1.37:g.234603259C>A	ENSP00000040877:p.Glu413*	Somatic		Capture	Illumina HiSeq	Phase_I	232669882	NM_005646	Q9H581	Nonsense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	38	7.000022	0.97994	.	.	ENSG00000059588	ENST00000040877	.	.	.	5.07	5.07	0.68467	.	0.713367	0.13592	N	0.376492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-14.7612	13.8903	0.63736	0.1524:0.8476:0.0:0.0	.	.	.	.	X	413	.	ENSP00000040877:E413X	E	-	1	0	TARBP1	232669882	0.137000	0.22531	0.734000	0.30879	0.985000	0.73830	2.011000	0.40922	2.785000	0.95823	0.637000	0.83480	GAA		0.363	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
ARID4B	51742	broad.mit.edu	37	1	235377185	235377185	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:235377185T>C	ENST00000264183.3	-	17	2237	c.1740A>G	c.(1738-1740)ggA>ggG	p.G580G	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.G580G	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	580					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G580G(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCCCTCGTCCATACCGCA	0.428																																					p.G580G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1740G	1						.						297.0	283.0	288.0					1																	235377185		2203	4300	6503	233443808	SO:0001819	synonymous_variant	51742	exon17			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1740A>G	1.37:g.235377185T>C		Somatic		Capture	Illumina HiSeq	Phase_I	233443808	NM_016374	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1																																																																																				0.428	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
B3GALNT2	148789	broad.mit.edu	37	1	235617564	235617564	+	Silent	SNP	G	G	A	rs145518904		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:235617564G>A	ENST00000366600.3	-	10	1443	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	405					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)	p.P405P(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAGGGTAAGCGGGGCTCGGGT	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14329	0.0		0.0	False		,,,				2504	0.0				p.P405P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1215T	1						.	G		3,4403	6.2+/-15.9	0,3,2200	76.0	70.0	72.0		1215	-11.9	0.0	1	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	B3GALNT2	NM_152490.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		405/501	235617564	3,13003	2203	4300	6503	233684187	SO:0001819	synonymous_variant	148789	exon10			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1215C>T	1.37:g.235617564G>A		Somatic		Capture	Illumina HiSeq	Phase_I	233684187	NM_152490	Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	CCDS1606.1																																																																																				0.502	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490	
LYST	1130	broad.mit.edu	37	1	235860568	235860568	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:235860568G>T	ENST00000389794.3	-	46	10553	c.10379C>A	c.(10378-10380)cCt>cAt	p.P3460H	LYST_ENST00000389793.2_Missense_Mutation_p.P3460H|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3460					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P3460H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCATGACAAAGGACTCTAAAA	0.393																																					p.P3460H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10379A	1						.						36.0	40.0	39.0					1																	235860568		2203	4300	6503	233927191	SO:0001583	missense	1130	exon46			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10379C>A	1.37:g.235860568G>T	ENSP00000374444:p.Pro3460His	Somatic		Capture	Illumina HiSeq	Phase_I	233927191	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611385	0.87258	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65178	-0.14;-0.14	5.79	5.79	0.91817	.	0.158507	0.64402	D	0.000001	T	0.78886	0.4354	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79453	-0.1797	10	0.87932	D	0	.	20.0019	0.97417	0.0:0.0:1.0:0.0	.	3460	Q99698	LYST_HUMAN	H	3460	ENSP00000374444:P3460H;ENSP00000374443:P3460H	ENSP00000374443:P3460H	P	-	2	0	LYST	233927191	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.776000	0.99001	2.729000	0.93468	0.591000	0.81541	CCT		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235944202	235944202	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:235944202A>C	ENST00000389794.3	-	16	5351	c.5177T>G	c.(5176-5178)tTt>tGt	p.F1726C	LYST_ENST00000389793.2_Missense_Mutation_p.F1726C|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1726					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F1726C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGTCATAAAAAGTTCTCT	0.259																																					p.F1726C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5177G	1						.						36.0	38.0	37.0					1																	235944202		2202	4300	6502	234010825	SO:0001583	missense	1130	exon16			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5177T>G	1.37:g.235944202A>C	ENSP00000374444:p.Phe1726Cys	Somatic		Capture	Illumina HiSeq	Phase_I	234010825	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996672	0.74818	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63744	-0.06;-0.06	5.05	5.05	0.67936	.	0.246874	0.44097	D	0.000495	T	0.73337	0.3574	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.61201	0.885	T	0.76740	-0.2848	10	0.72032	D	0.01	.	15.0894	0.72180	1.0:0.0:0.0:0.0	.	1726	Q99698	LYST_HUMAN	C	1726	ENSP00000374444:F1726C;ENSP00000374443:F1726C	ENSP00000374443:F1726C	F	-	2	0	LYST	234010825	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.027000	0.59764	0.383000	0.25322	TTT		0.259	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235972592	235972592	+	Missense_Mutation	SNP	A	A	C	rs550465065		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:235972592A>C	ENST00000389794.3	-	5	1700	c.1526T>G	c.(1525-1527)tTt>tGt	p.F509C	LYST_ENST00000389793.2_Missense_Mutation_p.F509C|LYST_ENST00000536965.1_Missense_Mutation_p.F509C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	509					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F509C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATGCATAAAATGAGAATA	0.378													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20689	0.0		0.0	False		,,,				2504	0.0				p.F509C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1526G	1						.						104.0	105.0	105.0					1																	235972592		2203	4300	6503	234039215	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1526T>G	1.37:g.235972592A>C	ENSP00000374444:p.Phe509Cys	Somatic		Capture	Illumina HiSeq	Phase_I	234039215	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027793	0.54790	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.69040	-0.37;-0.37;2.5	5.46	5.46	0.80206	.	0.098282	0.64402	D	0.000001	T	0.77136	0.4086	L	0.56769	1.78	0.45261	D	0.998266	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	T	0.79237	-0.1886	10	0.87932	D	0	.	10.7244	0.46059	0.8579:0.0:0.0:0.1421	.	509;509	Q99698-3;Q99698	.;LYST_HUMAN	C	509	ENSP00000374444:F509C;ENSP00000374443:F509C;ENSP00000438315:F509C	ENSP00000374443:F509C	F	-	2	0	LYST	234039215	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.982000	0.76173	2.059000	0.61396	0.528000	0.53228	TTT		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
ERO1LB	56605	broad.mit.edu	37	1	236389777	236389777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236389777C>A	ENST00000354619.5	-	12	1045	c.844G>T	c.(844-846)Gaa>Taa	p.E282*		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	282					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.E282*(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TGTTTGAATTCTTTAATATTA	0.378																																					p.E282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G844T	1						.						67.0	69.0	68.0					1																	236389777		2203	4299	6502	234456400	SO:0001587	stop_gained	56605	exon12			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.844G>T	1.37:g.236389777C>A	ENSP00000346635:p.Glu282*	Somatic		Capture	Illumina HiSeq	Phase_I	234456400	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.377124	0.97515	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	.	.	.	5.53	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-30.7466	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	.	.	.	X	282;7	.	ENSP00000264181:E7X	E	-	1	0	ERO1LB	234456400	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	GAA		0.378	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
ERO1LB	56605	broad.mit.edu	37	1	236433186	236433186	+	Missense_Mutation	SNP	G	G	A	rs142995196		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236433186G>A	ENST00000354619.5	-	2	412	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	RNU2-70P_ENST00000410718.1_RNA|ERO1LB_ENST00000327333.8_Missense_Mutation_p.R71C	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	71					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.R71C(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TTGTAATAACGAAAATAGTCT	0.323																																					p.R71C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	1						.	G	CYS/ARG	0,4404		0,0,2202	72.0	77.0	75.0		211	5.5	1.0	1	dbSNP_134	75	1,8591	1.2+/-3.3	0,1,4295	no	missense	ERO1LB	NM_019891.3	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	71/468	236433186	1,12995	2202	4296	6498	234499809	SO:0001583	missense	56605	exon2			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.211C>T	1.37:g.236433186G>A	ENSP00000346635:p.Arg71Cys	Somatic		Capture	Illumina HiSeq	Phase_I	234499809	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578888	0.65878	0.0	1.16E-4	ENSG00000086619	ENST00000354619;ENST00000327333	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83017	-0.0169	10	0.87932	D	0	-16.0083	11.8443	0.52374	0.0:0.0:0.7194:0.2805	.	71;71	B4DF57;Q86YB8	.;ERO1B_HUMAN	C	71	ENSP00000346635:R71C;ENSP00000377574:R71C	ENSP00000377574:R71C	R	-	1	0	ERO1LB	234499809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.755000	0.55197	2.599000	0.87857	0.655000	0.94253	CGT		0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
HEATR1	55127	broad.mit.edu	37	1	236729304	236729304	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236729304G>T	ENST00000366582.3	-	31	4464	c.4350C>A	c.(4348-4350)gtC>gtA	p.V1450V	HEATR1_ENST00000366581.2_Silent_p.V1369V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1450					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.V1450V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTCACAACAGACTGAAAACC	0.373																																					p.V1450V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4350A	1						.						115.0	109.0	111.0					1																	236729304		2203	4300	6503	234795927	SO:0001819	synonymous_variant	55127	exon31			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4350C>A	1.37:g.236729304G>T		Somatic		Capture	Illumina HiSeq	Phase_I	234795927	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																				0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
HEATR1	55127	broad.mit.edu	37	1	236758930	236758930	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236758930G>A	ENST00000366582.3	-	8	1114	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	HEATR1_ENST00000483073.1_5'Flank|HEATR1_ENST00000366581.2_Missense_Mutation_p.L334F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	334					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L334F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCCCATGAAGTATTGTAATA	0.393																																					p.L334F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000T	1						.						99.0	97.0	97.0					1																	236758930		2203	4300	6503	234825553	SO:0001583	missense	55127	exon8			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1000C>T	1.37:g.236758930G>A	ENSP00000355541:p.Leu334Phe	Somatic		Capture	Illumina HiSeq	Phase_I	234825553	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360125	0.41801	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.72167	0.32;-0.63	4.98	4.98	0.66077	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82625	-0.0365	10	0.51188	T	0.08	.	12.2708	0.54706	0.0891:0.0:0.9109:0.0	.	334	Q9H583	HEAT1_HUMAN	F	334	ENSP00000355541:L334F;ENSP00000355540:L334F	ENSP00000355540:L334F	L	-	1	0	HEATR1	234825553	0.997000	0.39634	0.577000	0.28562	0.058000	0.15608	2.521000	0.45563	2.595000	0.87683	0.591000	0.81541	CTT		0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
HEATR1	55127	broad.mit.edu	37	1	236761228	236761228	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236761228C>A	ENST00000366582.3	-	5	667	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.D185Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	185					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D185Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AATCCAAGATCTTTGTAGCAG	0.368																																					p.D185Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553T	1						.						165.0	153.0	157.0					1																	236761228		2203	4300	6503	234827851	SO:0001583	missense	55127	exon5			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.553G>T	1.37:g.236761228C>A	ENSP00000355541:p.Asp185Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	234827851	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883593	0.91740	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.46819	0.86;0.86	5.7	5.7	0.88788	.	0.047845	0.85682	N	0.000000	T	0.76414	0.3984	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80618	-0.1302	10	0.72032	D	0.01	.	19.8243	0.96610	0.0:1.0:0.0:0.0	.	185	Q9H583	HEAT1_HUMAN	Y	185	ENSP00000355541:D185Y;ENSP00000355540:D185Y	ENSP00000355540:D185Y	D	-	1	0	HEATR1	234827851	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.057000	0.76669	2.692000	0.91855	0.467000	0.42956	GAT		0.368	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
MTR	4548	broad.mit.edu	37	1	236976058	236976058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236976058G>A	ENST00000366577.5	+	6	917	c.523G>A	c.(523-525)Gca>Aca	p.A175T	MTR_ENST00000535889.1_Missense_Mutation_p.A175T|MTR_ENST00000418145.2_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	175	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.A175T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTTGTTGAAGCATACCAAGA	0.443																																					p.A175T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	1						.						186.0	173.0	177.0					1																	236976058		2203	4300	6503	235042681	SO:0001583	missense	4548	exon6			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.523G>A	1.37:g.236976058G>A	ENSP00000355536:p.Ala175Thr	Somatic		Capture	Illumina HiSeq	Phase_I	235042681	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278912	0.80692	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.12774	2.65;2.65	5.55	4.64	0.57946	Homocysteine S-methyltransferase (4);	0.053622	0.64402	D	0.000001	T	0.34600	0.0903	M	0.84846	2.72	0.49582	D	0.999804	P;P;P	0.46656	0.882;0.882;0.882	P;P;P	0.53102	0.718;0.718;0.718	T	0.32824	-0.9892	10	0.87932	D	0	-9.1009	14.3533	0.66719	0.0712:0.0:0.9288:0.0	.	175;175;175	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	T	175	ENSP00000355536:A175T;ENSP00000441845:A175T	ENSP00000355536:A175T	A	+	1	0	MTR	235042681	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.164000	0.71885	1.353000	0.45828	-0.136000	0.14681	GCA		0.443	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
MTR	4548	broad.mit.edu	37	1	237015897	237015897	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237015897G>A	ENST00000366577.5	+	17	2166	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	MTR_ENST00000535889.1_Missense_Mutation_p.R591Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	591	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.R591Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCCATTCGAGAAGCAATG	0.438																																					p.R591Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1772A	1						.						74.0	75.0	75.0					1																	237015897		2203	4300	6503	235082520	SO:0001583	missense	4548	exon17			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1772G>A	1.37:g.237015897G>A	ENSP00000355536:p.Arg591Gln	Somatic		Capture	Illumina HiSeq	Phase_I	235082520	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313393	0.95655	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.88975	-2.45;-2.45;-2.45	5.32	5.32	0.75619	Dihydropteroate synthase-like (1);Pterin-binding (2);	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	H	0.98218	4.175	0.45914	D	0.998758	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98072	1.0399	10	0.87932	D	0	-8.6929	19.1936	0.93677	0.0:0.0:1.0:0.0	.	591;591	B7ZLW7;Q99707	.;METH_HUMAN	Q	591;591;145	ENSP00000355536:R591Q;ENSP00000441845:R591Q;ENSP00000355535:R145Q	ENSP00000355535:R145Q	R	+	2	0	MTR	235082520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.369000	0.97156	2.770000	0.95276	0.563000	0.77884	CGA		0.438	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
RYR2	6262	broad.mit.edu	37	1	237659862	237659862	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237659862G>T	ENST00000366574.2	+	20	2330	c.2013G>T	c.(2011-2013)aaG>aaT	p.K671N	RYR2_ENST00000360064.6_Missense_Mutation_p.K669N|RYR2_ENST00000542537.1_Missense_Mutation_p.K655N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	671	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K669N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCAGTATAAGAAATGGTACT	0.453																																					p.K671N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2013T	1						.						78.0	82.0	81.0					1																	237659862		1896	4111	6007	235726485	SO:0001583	missense	6262	exon20			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2013G>T	1.37:g.237659862G>T	ENSP00000355533:p.Lys671Asn	Somatic		Capture	Illumina HiSeq	Phase_I	235726485	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573892	0.45902	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69175	-0.38;-0.38;-0.38	5.88	2.66	0.31614	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.072881	0.49916	D	0.000130	T	0.65964	0.2742	M	0.67953	2.075	0.80722	D	1	B	0.25048	0.117	B	0.35813	0.211	T	0.62859	-0.6765	10	0.62326	D	0.03	.	8.9066	0.35528	0.4515:0.0:0.5485:0.0	.	671	Q92736	RYR2_HUMAN	N	671;669;655	ENSP00000355533:K671N;ENSP00000353174:K669N;ENSP00000443798:K655N	ENSP00000353174:K669N	K	+	3	2	RYR2	235726485	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	0.557000	0.23454	0.345000	0.23873	-0.142000	0.14014	AAG		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237666707	237666707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237666707G>A	ENST00000366574.2	+	22	2832	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	RYR2_ENST00000360064.6_Missense_Mutation_p.E837K|RYR2_ENST00000542537.1_Missense_Mutation_p.E823K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E837K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACAGCCGAGAGTACAAGCA	0.507																																					p.E839K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2515A	1						.						118.0	122.0	120.0					1																	237666707		2008	4164	6172	235733330	SO:0001583	missense	6262	exon22			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2515G>A	1.37:g.237666707G>A	ENSP00000355533:p.Glu839Lys	Somatic		Capture	Illumina HiSeq	Phase_I	235733330	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001326	0.74818	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96587	-4.06;-4.03;-4.05	5.62	5.62	0.85841	.	0.000000	0.51477	D	0.000088	D	0.96037	0.8709	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	P	0.47528	0.549	D	0.95197	0.8313	10	0.40728	T	0.16	.	20.0205	0.97499	0.0:0.0:1.0:0.0	.	839	Q92736	RYR2_HUMAN	K	839;837;823	ENSP00000355533:E839K;ENSP00000353174:E837K;ENSP00000443798:E823K	ENSP00000353174:E837K	E	+	1	0	RYR2	235733330	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.177000	0.89688	2.801000	0.96364	0.650000	0.86243	GAG		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237755148	237755148	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237755148T>C	ENST00000366574.2	+	32	4587	c.4270T>C	c.(4270-4272)Tcc>Ccc	p.S1424P	RYR2_ENST00000360064.6_Missense_Mutation_p.S1422P|RYR2_ENST00000542537.1_Missense_Mutation_p.S1408P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1424	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S1422P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGCAAACGTCCACGGTATG	0.398																																					p.S1424P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4270C	1						.						146.0	143.0	144.0					1																	237755148		1918	4129	6047	235821771	SO:0001583	missense	6262	exon32			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4270T>C	1.37:g.237755148T>C	ENSP00000355533:p.Ser1424Pro	Somatic		Capture	Illumina HiSeq	Phase_I	235821771	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	t	18.47	3.630493	0.67015	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70045	-0.45;-0.45;-0.45	5.32	5.32	0.75619	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.195014	0.32533	N	0.005976	T	0.45895	0.1365	N	0.03608	-0.345	0.80722	D	1	B	0.30937	0.301	B	0.35727	0.209	T	0.53606	-0.8415	10	0.62326	D	0.03	.	10.6511	0.45649	0.1428:0.0:0.0:0.8572	.	1424	Q92736	RYR2_HUMAN	P	1424;1422;1408	ENSP00000355533:S1424P;ENSP00000353174:S1422P;ENSP00000443798:S1408P	ENSP00000353174:S1422P	S	+	1	0	RYR2	235821771	1.000000	0.71417	0.920000	0.36463	0.874000	0.50279	4.070000	0.57548	2.225000	0.72522	0.528000	0.53228	TCC		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237777917	237777917	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237777917T>C	ENST00000366574.2	+	37	5806	c.5489T>C	c.(5488-5490)aTc>aCc	p.I1830T	RYR2_ENST00000360064.6_Missense_Mutation_p.I1828T|RYR2_ENST00000542537.1_Missense_Mutation_p.I1814T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1830	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I1828T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCCTGCTGATCATGGGCATC	0.498																																					p.I1830T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5489C	1						.						148.0	140.0	142.0					1																	237777917		1952	4160	6112	235844540	SO:0001583	missense	6262	exon37			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5489T>C	1.37:g.237777917T>C	ENSP00000355533:p.Ile1830Thr	Somatic		Capture	Illumina HiSeq	Phase_I	235844540	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930825	0.34096	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.62	4.49	0.54785	.	0.000000	0.64402	D	0.000009	T	0.64994	0.2649	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61642	-0.7021	10	0.87932	D	0	.	11.4642	0.50227	0.0:0.0703:0.0:0.9297	.	1830	Q92736	RYR2_HUMAN	T	1830;1828;1814	ENSP00000355533:I1830T;ENSP00000353174:I1828T;ENSP00000443798:I1814T	ENSP00000353174:I1828T	I	+	2	0	RYR2	235844540	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	4.204000	0.58460	0.976000	0.38417	0.528000	0.53228	ATC		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237778027	237778027	+	Nonsense_Mutation	SNP	G	G	T	rs565583530		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237778027G>T	ENST00000366574.2	+	37	5916	c.5599G>T	c.(5599-5601)Gag>Tag	p.E1867*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1865*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1851*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1867	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1865*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGGAGAAAGAGCTCAGTGT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.0				p.E1867X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5599T	1						.						54.0	55.0	55.0					1																	237778027		2044	4193	6237	235844650	SO:0001587	stop_gained	6262	exon37			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5599G>T	1.37:g.237778027G>T	ENSP00000355533:p.Glu1867*	Somatic		Capture	Illumina HiSeq	Phase_I	235844650	NM_001035	Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	44	10.736923	0.99459	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.62	5.62	0.85841	.	0.545913	0.15755	N	0.246220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	.	.	.	X	1867;1865;1851	.	ENSP00000353174:E1865X	E	+	1	0	RYR2	235844650	1.000000	0.71417	0.114000	0.21550	0.315000	0.28087	7.175000	0.77632	2.665000	0.90641	0.650000	0.86243	GAG		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237798272	237798272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237798272C>T	ENST00000366574.2	+	44	7089	c.6772C>T	c.(6772-6774)Cgt>Tgt	p.R2258C	RYR2_ENST00000360064.6_Missense_Mutation_p.R2256C|RYR2_ENST00000542537.1_Missense_Mutation_p.R2242C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2258	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R2256C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTAGCTCTGCGTGAGCCGGA	0.413																																					p.R2258C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6772T	1						.						72.0	73.0	72.0					1																	237798272		1962	4157	6119	235864895	SO:0001583	missense	6262	exon44			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6772C>T	1.37:g.237798272C>T	ENSP00000355533:p.Arg2258Cys	Somatic		Capture	Illumina HiSeq	Phase_I	235864895	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645725	0.67358	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95656	-3.77;-3.77;-3.77	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000020	D	0.96284	0.8788	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96502	0.9372	10	0.87932	D	0	.	12.9892	0.58608	0.2037:0.7962:0.0:0.0	.	2258	Q92736	RYR2_HUMAN	C	2258;2256;2242	ENSP00000355533:R2258C;ENSP00000353174:R2256C;ENSP00000443798:R2242C	ENSP00000353174:R2256C	R	+	1	0	RYR2	235864895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.487000	0.45268	2.296000	0.77279	0.591000	0.81541	CGT		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237817710	237817710	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237817710A>G	ENST00000366574.2	+	52	8278	c.7961A>G	c.(7960-7962)cAa>cGa	p.Q2654R	RYR2_ENST00000360064.6_Missense_Mutation_p.Q2652R|RYR2_ENST00000542537.1_Missense_Mutation_p.Q2638R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2654	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q2652R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCCTGTCTCAAAAGGTAATT	0.388																																					p.Q2654R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7961G	1						.						78.0	76.0	77.0					1																	237817710		1832	4085	5917	235884333	SO:0001583	missense	6262	exon52			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7961A>G	1.37:g.237817710A>G	ENSP00000355533:p.Gln2654Arg	Somatic		Capture	Illumina HiSeq	Phase_I	235884333	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084602	0.36758	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92699	-3.09;-3.09;-3.09	5.68	5.68	0.88126	.	0.099801	0.44285	D	0.000468	D	0.86510	0.5950	N	0.25647	0.755	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.81890	-0.0725	10	0.17832	T	0.49	-14.937	16.2322	0.82352	1.0:0.0:0.0:0.0	.	2654	Q92736	RYR2_HUMAN	R	2654;2652;2638	ENSP00000355533:Q2654R;ENSP00000353174:Q2652R;ENSP00000443798:Q2638R	ENSP00000353174:Q2652R	Q	+	2	0	RYR2	235884333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.399000	0.59703	2.288000	0.76882	0.528000	0.53228	CAA		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237841403	237841403	+	Missense_Mutation	SNP	C	C	A	rs372703473		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237841403C>A	ENST00000366574.2	+	61	9203	c.8886C>A	c.(8884-8886)ttC>ttA	p.F2962L	RYR2_ENST00000360064.6_Missense_Mutation_p.F2960L|RYR2_ENST00000609119.1_Intron|RYR2_ENST00000542537.1_Missense_Mutation_p.F2946L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2962					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F2960L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAATCAAGTTCTTTGCAAAAG	0.358																																					p.F2962L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8886A	1						.	C	LEU/PHE	1,3773		0,1,1886	105.0	104.0	104.0		8886	4.8	1.0	1		104	0,8210		0,0,4105	no	missense	RYR2	NM_001035.2	22	0,1,5991	AA,AC,CC		0.0,0.0265,0.0083	probably-damaging	2962/4968	237841403	1,11983	1887	4105	5992	235908026	SO:0001583	missense	6262	exon61			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8886C>A	1.37:g.237841403C>A	ENSP00000355533:p.Phe2962Leu	Somatic		Capture	Illumina HiSeq	Phase_I	235908026	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951323	0.73787	2.65E-4	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.98249	-0.17;-4.8;-4.82	5.67	4.76	0.60689	.	0.000000	0.64402	D	0.000004	D	0.98090	0.9370	M	0.83603	2.65	0.80722	D	1	D	0.58268	0.982	P	0.52627	0.704	D	0.97940	1.0325	10	0.87932	D	0	.	8.7061	0.34356	0.0:0.761:0.0:0.239	.	2962	Q92736	RYR2_HUMAN	L	2962;2960;2946	ENSP00000355533:F2962L;ENSP00000353174:F2960L;ENSP00000443798:F2946L	ENSP00000353174:F2960L	F	+	3	2	RYR2	235908026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.959000	0.40412	1.406000	0.46857	0.591000	0.81541	TTC		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237893564	237893564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237893564C>T	ENST00000366574.2	+	77	11160	c.10843C>T	c.(10843-10845)Cgg>Tgg	p.R3615W	RYR2_ENST00000360064.6_Missense_Mutation_p.R3613W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3599W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3615					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3613W(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAGGCATCGGGCTGTCAA	0.333																																					p.R3615W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10843T	1						.						73.0	68.0	70.0					1																	237893564		1822	4081	5903	235960187	SO:0001583	missense	6262	exon77			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10843C>T	1.37:g.237893564C>T	ENSP00000355533:p.Arg3615Trp	Somatic		Capture	Illumina HiSeq	Phase_I	235960187	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410238	0.83340	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98164	-4.76;-4.68;-4.75	5.52	4.61	0.57282	.	0.000000	0.56097	D	0.000024	D	0.99007	0.9661	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.947;0.998	D	0.99568	1.0970	10	0.72032	D	0.01	-3.982	14.7662	0.69640	0.0:0.93:0.0:0.07	.	570;3615	B4DGV4;Q92736	.;RYR2_HUMAN	W	3615;3613;3599;570	ENSP00000355533:R3615W;ENSP00000353174:R3613W;ENSP00000443798:R3599W	ENSP00000353174:R3613W	R	+	1	2	RYR2	235960187	0.967000	0.33354	0.990000	0.47175	0.974000	0.67602	2.324000	0.43831	1.472000	0.48140	0.585000	0.79938	CGG		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237935370	237935370	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237935370C>A	ENST00000366574.2	+	86	11933	c.11616C>A	c.(11614-11616)atC>atA	p.I3872I	RYR2_ENST00000360064.6_Silent_p.I3878I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.I3856I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3872					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I3870I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATAATTATCTCCACTGTAG	0.328																																					p.I3872I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11616A	1						.						66.0	60.0	62.0					1																	237935370		1816	4077	5893	236001993	SO:0001819	synonymous_variant	6262	exon86			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11616C>A	1.37:g.237935370C>A		Somatic		Capture	Illumina HiSeq	Phase_I	236001993	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.328	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237942055	237942055	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237942055G>T	ENST00000366574.2	+	88	12182	c.11865G>T	c.(11863-11865)caG>caT	p.Q3955H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q3961H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.Q3939H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3955					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q3953H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCATATGCAGATGAAGCTGT	0.448																																					p.Q3955H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11865T	1						.						101.0	98.0	99.0					1																	237942055		1910	4126	6036	236008678	SO:0001583	missense	6262	exon88			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11865G>T	1.37:g.237942055G>T	ENSP00000355533:p.Gln3955His	Somatic		Capture	Illumina HiSeq	Phase_I	236008678	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934831	0.73442	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97161	-4.27;-4.24;-4.26	5.65	-0.19	0.13256	.	0.000000	0.64402	D	0.000014	D	0.97729	0.9255	M	0.80982	2.52	0.80722	D	1	P;D	0.69078	0.942;0.997	P;D	0.68483	0.87;0.958	D	0.96802	0.9590	10	0.87932	D	0	-13.8185	10.785	0.46401	0.3673:0.0:0.6327:0.0	.	929;3955	B4DGV4;Q92736	.;RYR2_HUMAN	H	3955;3961;3939;929	ENSP00000355533:Q3955H;ENSP00000353174:Q3961H;ENSP00000443798:Q3939H	ENSP00000353174:Q3961H	Q	+	3	2	RYR2	236008678	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	1.131000	0.31406	-0.022000	0.13986	0.563000	0.77884	CAG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237949315	237949315	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237949315A>C	ENST00000366574.2	+	91	13624	c.13307A>C	c.(13306-13308)aAa>aCa	p.K4436T	RYR2_ENST00000360064.6_Missense_Mutation_p.K4442T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.K4420T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4436	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K4434T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			gaagaaACCAAATCTGAACCT	0.368																																					p.K4436T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13307C	1						.						122.0	127.0	125.0					1																	237949315		1833	4095	5928	236015938	SO:0001583	missense	6262	exon91			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13307A>C	1.37:g.237949315A>C	ENSP00000355533:p.Lys4436Thr	Somatic		Capture	Illumina HiSeq	Phase_I	236015938	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785094	0.31593	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93906	-3.31;-3.31;-3.31	4.93	4.93	0.64822	Ryanodine Receptor TM 4-6 (1);	0.079168	0.49305	D	0.000143	D	0.88937	0.6573	L	0.32530	0.975	0.80722	D	1	B;B	0.31949	0.348;0.348	B;B	0.34093	0.175;0.175	D	0.87264	0.2281	10	0.38643	T	0.18	-3.5115	12.239	0.54532	1.0:0.0:0.0:0.0	.	1410;4436	B4DGV4;Q92736	.;RYR2_HUMAN	T	4436;4442;4420;1410	ENSP00000355533:K4436T;ENSP00000353174:K4442T;ENSP00000443798:K4420T	ENSP00000353174:K4442T	K	+	2	0	RYR2	236015938	1.000000	0.71417	0.780000	0.31762	0.899000	0.52679	1.838000	0.39211	1.961000	0.56991	0.533000	0.62120	AAA		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T	rs375456172		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413																																					p.I4831I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C14493T	1						.	C		1,3871		0,1,1935	214.0	214.0	214.0		14493	-4.7	0.9	1		214	0,8270		0,0,4135	no	coding-synonymous	RYR2	NM_001035.2		0,1,6070	TT,TC,CC		0.0,0.0258,0.0082		4831/4968	237982395	1,12141	1936	4135	6071	236049018	SO:0001819	synonymous_variant	6262	exon101			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14493C>T	1.37:g.237982395C>T		Somatic		Capture	Illumina HiSeq	Phase_I	236049018	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ZP4	57829	broad.mit.edu	37	1	238048599	238048599	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:238048599C>A	ENST00000366570.4	-	9	1335	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	393	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.D393Y(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGATAGTTGTCTCCAATGTAG	0.498																																					p.D393Y	NSCLC(166;160 2029 11600 18754 19936)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1177T	1						.						63.0	63.0	63.0					1																	238048599		2203	4300	6503	236115222	SO:0001583	missense	57829	exon9			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1177G>T	1.37:g.238048599C>A	ENSP00000355529:p.Asp393Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	236115222	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739516	0.69304	.	.	ENSG00000116996	ENST00000366570	D	0.84589	-1.87	5.1	5.1	0.69264	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	H	0.94385	3.53	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95861	0.8883	10	0.87932	D	0	-26.3431	16.0408	0.80680	0.0:1.0:0.0:0.0	.	393	Q12836	ZP4_HUMAN	Y	393	ENSP00000355529:D393Y	ENSP00000355529:D393Y	D	-	1	0	ZP4	236115222	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.719000	0.61937	2.376000	0.81061	0.655000	0.94253	GAC		0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
TCEA3	6920	broad.mit.edu	37	1	23743854	23743854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23743854C>A	ENST00000450454.2	-	4	374	c.268G>T	c.(268-270)Gga>Tga	p.G90*	TCEA3_ENST00000374601.3_Nonsense_Mutation_p.G90*|TCEA3_ENST00000461794.1_Nonsense_Mutation_p.G53*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	90					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G90*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ctttcctctcctttttctcct	0.488																																					p.G90X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G268T	1						.						106.0	103.0	104.0					1																	23743854		1853	4101	5954	23616441	SO:0001587	stop_gained	6920	exon4			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.268G>T	1.37:g.23743854C>A	ENSP00000406293:p.Gly90*	Somatic		Capture	Illumina HiSeq	Phase_I	23616441	NM_003196	A8K2K7|Q5DR83	Nonsense_Mutation	SNP	ENST00000450454.2	37	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075183	0.55646	.	.	ENSG00000204219	ENST00000450454;ENST00000374601	.	.	.	4.65	1.56	0.23342	.	0.646470	0.16535	N	0.210187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.4051	3.8499	0.08951	0.1893:0.6098:0.0:0.2009	.	.	.	.	X	90	.	ENSP00000363729:G90X	G	-	1	0	TCEA3	23616441	0.997000	0.39634	1.000000	0.80357	0.814000	0.46013	0.041000	0.13927	0.692000	0.31613	0.655000	0.94253	GGA		0.488	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196	
E2F2	1870	broad.mit.edu	37	1	23836416	23836416	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23836416C>T	ENST00000361729.2	-	7	1696	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	424	Retinoblastoma protein binding. {ECO:0000255}.|Transactivation. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D424N(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TCGAAGAGATCGCTGATGCCC	0.632																																					p.D424N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	1						.						65.0	48.0	54.0					1																	23836416		2203	4300	6503	23709003	SO:0001583	missense	1870	exon7			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.1270G>A	1.37:g.23836416C>T	ENSP00000355249:p.Asp424Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23709003	NM_004091	B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	CCDS236.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807784	0.70797	.	.	ENSG00000007968	ENST00000361729	T	0.16324	2.35	5.4	4.48	0.54585	.	0.111085	0.64402	N	0.000018	T	0.41096	0.1144	M	0.76727	2.345	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.36480	-0.9746	10	0.87932	D	0	-21.8336	12.4255	0.55544	0.0:0.8307:0.1693:0.0	.	424	Q14209	E2F2_HUMAN	N	424	ENSP00000355249:D424N	ENSP00000355249:D424N	D	-	1	0	E2F2	23709003	1.000000	0.71417	0.916000	0.36221	0.296000	0.27459	6.865000	0.75500	1.410000	0.46936	-0.175000	0.13238	GAT		0.632	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091	
ZP4	57829	broad.mit.edu	37	1	238049174	238049174	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:238049174G>A	ENST00000366570.4	-	7	1010	c.852C>T	c.(850-852)agC>agT	p.S284S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	284	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S284S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTAGCTGCAGCTGACATGGA	0.478																																					p.S284S	NSCLC(166;160 2029 11600 18754 19936)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	1						.						130.0	127.0	128.0					1																	238049174		2203	4300	6503	236115797	SO:0001819	synonymous_variant	57829	exon7			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.852C>T	1.37:g.238049174G>A		Somatic		Capture	Illumina HiSeq	Phase_I	236115797	NM_021186	B2RAE1	Silent	SNP	ENST00000366570.4	37	CCDS1615.1																																																																																				0.478	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
FMN2	56776	broad.mit.edu	37	1	240497481	240497481	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:240497481T>G	ENST00000319653.9	+	13	4947	c.4717T>G	c.(4717-4719)Ttt>Gtt	p.F1573V	FMN2_ENST00000545751.1_Missense_Mutation_p.F169V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1573	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.F1716V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACAGATGAAGTTTGAAGATTT	0.368																																					p.F1573V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4717G	1						.						122.0	136.0	131.0					1																	240497481		2202	4300	6502	238564104	SO:0001583	missense	56776	exon13			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4717T>G	1.37:g.240497481T>G	ENSP00000318884:p.Phe1573Val	Somatic		Capture	Illumina HiSeq	Phase_I	238564104	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307762	0.60305	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.17691	2.26;2.26	5.52	4.4	0.53042	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.087756	0.48767	D	0.000161	T	0.35307	0.0927	L	0.59912	1.85	0.80722	D	1	B;D;D;D	0.89917	0.338;0.981;0.998;1.0	B;P;D;D	0.91635	0.239;0.89;0.96;0.999	T	0.05435	-1.0885	10	0.59425	D	0.04	.	10.8353	0.46683	0.0:0.0737:0.0:0.9263	.	169;219;202;1573	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	V	1573;169;200;49	ENSP00000318884:F1573V;ENSP00000437918:F169V	ENSP00000318884:F1573V	F	+	1	0	FMN2	238564104	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	6.264000	0.72527	2.096000	0.63516	0.459000	0.35465	TTT		0.368	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
KMO	8564	broad.mit.edu	37	1	241752099	241752099	+	Silent	SNP	G	G	A	rs566876281		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:241752099G>A	ENST00000366559.4	+	12	1376	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	KMO_ENST00000366557.4_Silent_p.A355A|KMO_ENST00000366558.3_Silent_p.A355A	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.A355A(3)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATGATCACGCGATTTCAGACC	0.363																																					p.A355A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1065A	1						.						182.0	168.0	173.0					1																	241752099		2203	4300	6503	239818722	SO:0001819	synonymous_variant	8564	exon12			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1065G>A	1.37:g.241752099G>A		Somatic		Capture	Illumina HiSeq	Phase_I	239818722	NM_003679		Silent	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604681	0.03717	.	.	ENSG00000117009	ENST00000366555	.	.	.	6.06	-8.99	0.00751	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	.	7.579	0.27952	0.3432:0.3067:0.3501:0.0	.	.	.	.	N	41	.	.	D	+	1	0	KMO	239818722	0.000000	0.05858	0.279000	0.24732	0.059000	0.15707	-5.767000	0.00099	-1.532000	0.01747	-1.619000	0.00793	GAT		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
EXO1	9156	broad.mit.edu	37	1	242048759	242048759	+	Silent	SNP	G	G	A	rs61751859		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:242048759G>A	ENST00000366548.3	+	15	2948	c.2355G>A	c.(2353-2355)ccG>ccA	p.P785P	EXO1_ENST00000518483.1_Silent_p.P785P|EXO1_ENST00000348581.5_Silent_p.P785P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	785	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.P785P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAACAAGCCGGGGTTACAGA	0.433								Editing and processing nucleases																													p.P785P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2355A	1						.						88.0	96.0	93.0					1																	242048759		2203	4300	6503	240115382	SO:0001819	synonymous_variant	9156	exon15			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2355G>A	1.37:g.242048759G>A		Somatic		Capture	Illumina HiSeq	Phase_I	240115382	NM_130398	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	4.442	0.081777	0.08533	.	.	ENSG00000174371	ENST00000521202	.	.	.	5.87	-6.66	0.01789	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56751	-0.7927	4	.	.	.	-16.634	10.6948	0.45892	0.4122:0.0:0.4942:0.0937	rs61751859	.	.	.	R	150	.	.	G	+	1	0	EXO1	240115382	0.667000	0.27484	0.682000	0.30024	0.358000	0.29455	-0.178000	0.09782	-1.043000	0.03258	-2.187000	0.00313	GGG		0.433	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
PLD5	200150	broad.mit.edu	37	1	242451724	242451724	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:242451724C>T	ENST00000536534.2	-	3	676	c.435G>A	c.(433-435)aaG>aaA	p.K145K	PLD5_ENST00000442594.2_Silent_p.K53K|PLD5_ENST00000427495.1_Silent_p.K83K			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	145						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.K53K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTCAACAGACTTTTTGGCCA	0.403																																					p.K83K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	1						.						109.0	98.0	102.0					1																	242451724		2203	4298	6501	240518347	SO:0001819	synonymous_variant	200150	exon3			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.435G>A	1.37:g.242451724C>T		Somatic		Capture	Illumina HiSeq	Phase_I	240518347	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.403	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
C1orf101	257044	broad.mit.edu	37	1	244723982	244723982	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:244723982A>T	ENST00000366534.4	+	10	1096	c.1042A>T	c.(1042-1044)Aga>Tga	p.R348*	C1orf101_ENST00000366531.3_Nonsense_Mutation_p.R197*|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Nonsense_Mutation_p.R348*	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	348						CatSper complex (GO:0036128)		p.R348*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TAAAGGAAGAAGAAGCACCTT	0.333																																					p.R348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1042T	1						.						68.0	69.0	69.0					1																	244723982		2203	4300	6503	242790605	SO:0001587	stop_gained	257044	exon10			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1042A>T	1.37:g.244723982A>T	ENSP00000355492:p.Arg348*	Somatic		Capture	Illumina HiSeq	Phase_I	242790605	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Nonsense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802979	0.70682	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	.	.	.	4.97	-1.7	0.08159	.	0.920940	0.09099	N	0.848782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.5647	0.02602	0.2941:0.4029:0.1068:0.1962	.	.	.	.	X	348;348;348;268;197	.	ENSP00000355489:R197X	R	+	1	2	C1orf101	242790605	0.005000	0.15991	0.000000	0.03702	0.047000	0.14425	0.560000	0.23500	-0.006000	0.14370	0.528000	0.53228	AGA		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
IL22RA1	58985	broad.mit.edu	37	1	24447508	24447508	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24447508G>A	ENST00000270800.1	-	7	1550	c.1512C>T	c.(1510-1512)atC>atT	p.I504I		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	504					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.I504I(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGTGGCCCTCGATCTGGACTG	0.602																																					p.I504I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512T	1						.						115.0	97.0	103.0					1																	24447508		2203	4300	6503	24320095	SO:0001819	synonymous_variant	58985	exon7			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1512C>T	1.37:g.24447508G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24320095	NM_021258	A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																				0.602	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1		
C1orf101	257044	broad.mit.edu	37	1	244773566	244773566	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:244773566A>G	ENST00000366534.4	+	19	2482	c.2428A>G	c.(2428-2430)Aca>Gca	p.T810A	C1orf101_ENST00000366531.3_Missense_Mutation_p.T659A|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.T810A	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	810						CatSper complex (GO:0036128)		p.T810A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGAAGCACAGACATGGAAGTC	0.378																																					p.T810A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2428G	1						.						112.0	102.0	106.0					1																	244773566		2203	4300	6503	242840189	SO:0001583	missense	257044	exon19			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2428A>G	1.37:g.244773566A>G	ENSP00000355492:p.Thr810Ala	Somatic		Capture	Illumina HiSeq	Phase_I	242840189	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.361086	0.61403	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	1.58	0.23477	.	0.213122	0.32952	N	0.005446	T	0.41994	0.1183	L	0.59436	1.845	0.24058	N	0.996026	D;D;D;D	0.89917	0.997;0.999;1.0;0.999	P;D;D;D	0.85130	0.874;0.981;0.997;0.996	T	0.14364	-1.0475	10	0.66056	D	0.02	.	9.2413	0.37498	0.5835:0.0:0.0:0.4165	.	730;810;810;659	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	A	810;810;810;730;659	ENSP00000355492:T810A;ENSP00000355491:T810A;ENSP00000395796:T730A;ENSP00000355489:T659A	ENSP00000355489:T659A	T	+	1	0	C1orf101	242840189	1.000000	0.71417	0.847000	0.33407	0.788000	0.44548	2.229000	0.42990	0.333000	0.23563	0.482000	0.46254	ACA		0.378	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
SMYD3	64754	broad.mit.edu	37	1	245912894	245912894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:245912894C>A	ENST00000388985.4	-	12	1257	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Nonsense_Mutation_p.E361*|SMYD3_ENST00000490107.1_Nonsense_Mutation_p.E361*			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	420					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.E361*(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GCGTCGCATTCTTCTAAAAGT	0.433																																					p.E361X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1081T	1						.						151.0	122.0	132.0					1																	245912894		2203	4300	6503	243979517	SO:0001587	stop_gained	64754	exon12			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1258G>T	1.37:g.245912894C>A	ENSP00000373637:p.Glu420*	Somatic		Capture	Illumina HiSeq	Phase_I	243979517	NM_022743	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Nonsense_Mutation	SNP	ENST00000388985.4	37	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489095	0.84962	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985	.	.	.	5.41	5.41	0.78517	.	0.060423	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.9705	14.6491	0.68784	0.0:0.8556:0.1444:0.0	.	.	.	.	X	361;361;250;420	.	ENSP00000373637:E420X	E	-	1	0	SMYD3	243979517	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.356000	0.44116	2.538000	0.85594	0.563000	0.77884	GAA		0.433	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
CNST	163882	broad.mit.edu	37	1	246754876	246754876	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:246754876C>T	ENST00000366513.4	+	2	281	c.12C>T	c.(10-12)agC>agT	p.S4S	CNST_ENST00000366512.3_Silent_p.S4S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	4					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.S4S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGGATGACAGCGATACTCCTA	0.398																																					p.S4S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12T	1						.						118.0	110.0	113.0					1																	246754876		2203	4300	6503	244821499	SO:0001819	synonymous_variant	163882	exon2			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.12C>T	1.37:g.246754876C>T		Somatic		Capture	Illumina HiSeq	Phase_I	244821499	NM_001139459	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	CCDS1628.1																																																																																				0.398	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609	
AHCTF1	25909	broad.mit.edu	37	1	247013717	247013717	+	Missense_Mutation	SNP	A	A	C	rs562078405		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247013717A>C	ENST00000391829.2	-	33	5714	c.5591T>G	c.(5590-5592)gTt>gGt	p.V1864G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.V1873G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.V1899G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1864	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1864G(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AACAGATGAAACCTTAACTTC	0.318																																					p.V1873G	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5618G	1						.						33.0	35.0	35.0					1																	247013717		2181	4291	6472	245080340	SO:0001583	missense	25909	exon33				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5591T>G	1.37:g.247013717A>C	ENSP00000375705:p.Val1864Gly	Somatic		Capture	Illumina HiSeq	Phase_I	245080340	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	A	0.245	-1.011061	0.02095	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33216	1.42;1.42;1.42	5.66	3.33	0.38152	.	1.650940	0.03066	N	0.156468	T	0.15565	0.0375	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.29805	0.257;0.05;0.029	B;B;B	0.26416	0.069;0.023;0.01	T	0.21552	-1.0242	10	0.23891	T	0.37	-0.849	2.1251	0.03736	0.586:0.1663:0.0884:0.1592	.	725;1899;1864	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	G	1899;1873;1864	ENSP00000355464:V1899G;ENSP00000355465:V1873G;ENSP00000375705:V1864G	ENSP00000355465:V1873G	V	-	2	0	AHCTF1	245080340	0.001000	0.12720	0.032000	0.17829	0.008000	0.06430	0.629000	0.24538	0.412000	0.25729	0.533000	0.62120	GTT		0.318	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
GRHL3	57822	broad.mit.edu	37	1	24669215	24669215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24669215G>A	ENST00000350501.5	+	10	1365	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q|GRHL3_ENST00000361548.4_Missense_Mutation_p.R413Q	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	413					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R418Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATGACGAGCGGAAGCAGTTC	0.627																																					p.R413Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1238A	1						.						92.0	92.0	92.0					1																	24669215		2203	4300	6503	24541802	SO:0001583	missense	57822	exon10			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1238G>A	1.37:g.24669215G>A	ENSP00000288955:p.Arg413Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24541802	NM_198173	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	36	5.707882	0.96821	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.96	4.96	0.65561	.	0.182554	0.46145	D	0.000309	T	0.41650	0.1168	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.977	T	0.25606	-1.0127	10	0.66056	D	0.02	-25.8636	17.3827	0.87408	0.0:0.0:1.0:0.0	.	367;418;413	A2A297;Q8TE85-2;G3XAF0	.;.;.	Q	413;320;413;367;418	ENSP00000354943:R413Q;ENSP00000340543:R320Q;ENSP00000288955:R413Q;ENSP00000348333:R367Q;ENSP00000236255:R418Q	ENSP00000236255:R418Q	R	+	2	0	GRHL3	24541802	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.258000	0.72487	2.585000	0.87301	0.655000	0.94253	CGG		0.627	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
ZNF124	7678	broad.mit.edu	37	1	247320483	247320483	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247320483C>T	ENST00000543802.2	-	4	530	c.441G>A	c.(439-441)gaG>gaA	p.E147E	ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Silent_p.E85E			Q15973	ZN124_HUMAN	zinc finger protein 124	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E85E(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CATAGGGTTTCTCTCCAGTGT	0.358																																					p.E85E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	1						.						45.0	47.0	46.0					1																	247320483		2203	4300	6503	245387106	SO:0001819	synonymous_variant	7678	exon4			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.441G>A	1.37:g.247320483C>T		Somatic		Capture	Illumina HiSeq	Phase_I	245387106	NM_003431	B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37																																																																																					0.358	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431	
ZNF496	84838	broad.mit.edu	37	1	247492153	247492153	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247492153C>A	ENST00000294753.4	-	4	870	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	ZNF496_ENST00000366498.2_Missense_Mutation_p.D136Y	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	136					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D136Y(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACCACAGGGTCTTCACAGTGC	0.592																																					p.D136Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406T	1						.						111.0	111.0	111.0					1																	247492153		2203	4300	6503	245558776	SO:0001583	missense	84838	exon4			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.406G>T	1.37:g.247492153C>A	ENSP00000294753:p.Asp136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	245558776	NM_032752	Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850025	0.71603	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07908	3.19;3.15	4.85	4.85	0.62838	Transcription regulator SCAN (1);	0.000000	0.52532	D	0.000068	T	0.18509	0.0444	L	0.32530	0.975	0.39897	D	0.973851	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.96	T	0.00587	-1.1657	10	0.66056	D	0.02	-43.5079	13.6746	0.62447	0.0:1.0:0.0:0.0	.	136;136	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	Y	136	ENSP00000294753:D136Y;ENSP00000355454:D136Y	ENSP00000294753:D136Y	D	-	1	0	ZNF496	245558776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.741000	0.38238	2.700000	0.92200	0.561000	0.74099	GAC		0.592	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752	
NLRP3	114548	broad.mit.edu	37	1	247586625	247586625	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247586625G>A	ENST00000336119.3	+	2	1123	c.377G>A	c.(376-378)aGa>aAa	p.R126K	NLRP3_ENST00000348069.2_Missense_Mutation_p.R126K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.R126K|NLRP3_ENST00000391827.2_Missense_Mutation_p.R126K|NLRP3_ENST00000391828.3_Missense_Mutation_p.R126K|NLRP3_ENST00000366496.2_Missense_Mutation_p.R126K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	126					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R126I(1)|p.R126K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TACCTTTCGAGAATCTCTATT	0.458																																					p.R126K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G377A	1						.						176.0	178.0	177.0					1																	247586625		2203	4300	6503	245653248	SO:0001583	missense	114548	exon4			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.377G>A	1.37:g.247586625G>A	ENSP00000337383:p.Arg126Lys	Somatic		Capture	Illumina HiSeq	Phase_I	245653248	NM_001079821	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	6.800	0.516655	0.12944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73047	-0.62;-0.64;-0.62;-0.71;-0.64;-0.67	4.1	2.2	0.27929	.	0.295108	0.23291	N	0.049793	T	0.58864	0.2152	M	0.62723	1.935	0.26212	N	0.979281	B;B;B;B;B	0.09022	0.0;0.0;0.001;0.002;0.001	B;B;B;B;B	0.12837	0.002;0.005;0.008;0.007;0.002	T	0.41520	-0.9504	10	0.07813	T	0.8	.	6.7889	0.23689	0.2146:0.0:0.7854:0.0	.	126;126;126;126;126	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	126	ENSP00000375704:R126K;ENSP00000355453:R126K;ENSP00000337383:R126K;ENSP00000294752:R126K;ENSP00000355452:R126K;ENSP00000375703:R126K	ENSP00000337383:R126K	R	+	2	0	NLRP3	245653248	0.314000	0.24563	0.973000	0.42090	0.002000	0.02628	0.291000	0.18994	0.684000	0.31448	-0.140000	0.14226	AGA		0.458	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247588527	247588527	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247588527G>T	ENST00000336119.3	+	3	2528	c.1782G>T	c.(1780-1782)aaG>aaT	p.K594N	NLRP3_ENST00000348069.2_Missense_Mutation_p.K594N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.K594N|NLRP3_ENST00000391827.2_Missense_Mutation_p.K594N|NLRP3_ENST00000391828.3_Missense_Mutation_p.K594N|NLRP3_ENST00000366496.2_Missense_Mutation_p.K594N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	594					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.K594N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTTGGAGAAGAAATTAAGTT	0.443																																					p.K594N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1782T	1						.						56.0	57.0	56.0					1																	247588527		2203	4300	6503	245655150	SO:0001583	missense	114548	exon5			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1782G>T	1.37:g.247588527G>T	ENSP00000337383:p.Lys594Asn	Somatic		Capture	Illumina HiSeq	Phase_I	245655150	NM_001079821	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574905	0.28092	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	-1.59	0.08453	.	0.114194	0.39759	N	0.001279	T	0.72471	0.3464	L	0.48174	1.505	0.31012	N	0.719118	B;B;B;B;B	0.25955	0.043;0.047;0.138;0.032;0.024	B;B;B;B;B	0.31101	0.043;0.044;0.124;0.053;0.018	T	0.61436	-0.7063	10	0.18710	T	0.47	.	7.9983	0.30282	0.4851:0.0:0.5149:0.0	.	594;594;594;594;594	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	594	ENSP00000375704:K594N;ENSP00000355453:K594N;ENSP00000337383:K594N;ENSP00000294752:K594N;ENSP00000355452:K594N;ENSP00000375703:K594N	ENSP00000337383:K594N	K	+	3	2	NLRP3	245655150	0.000000	0.05858	0.679000	0.29978	0.955000	0.61496	-0.309000	0.08145	-0.301000	0.08882	-0.140000	0.14226	AAG		0.443	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247599413	247599413	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247599413G>T	ENST00000336119.3	+	6	3386	c.2640G>T	c.(2638-2640)aaG>aaT	p.K880N	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.K823N|NLRP3_ENST00000391828.3_Missense_Mutation_p.K880N|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	880					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.K880N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAAAGCCAAGAATCCACAGT	0.438																																					p.K880N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2640T	1						.						92.0	87.0	89.0					1																	247599413		2203	4300	6503	245666036	SO:0001583	missense	114548	exon8			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2640G>T	1.37:g.247599413G>T	ENSP00000337383:p.Lys880Asn	Somatic		Capture	Illumina HiSeq	Phase_I	245666036	NM_001079821	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.435593	0.25813	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.41400	1.0;1.0;1.0	3.63	1.76	0.24704	.	0.000000	0.37809	N	0.001928	T	0.37376	0.1001	M	0.83012	2.62	0.19300	N	0.99998	B;B;P	0.40144	0.261;0.101;0.704	B;B;B	0.32762	0.08;0.054;0.152	T	0.35919	-0.9769	10	0.49607	T	0.09	.	5.7934	0.18373	0.2416:0.0:0.7584:0.0	.	860;823;880	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	N	880;880;823	ENSP00000375704:K880N;ENSP00000337383:K880N;ENSP00000375703:K823N	ENSP00000337383:K880N	K	+	3	2	NLRP3	245666036	0.054000	0.20591	0.001000	0.08648	0.001000	0.01503	1.544000	0.36158	0.543000	0.28864	-0.293000	0.09583	AAG		0.438	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247607990	247607990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247607990G>A	ENST00000336119.3	+	8	3624	c.2878G>A	c.(2878-2880)Gat>Aat	p.D960N	NLRP3_ENST00000348069.2_Missense_Mutation_p.D846N|NLRP3_ENST00000366497.2_Missense_Mutation_p.D903N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D903N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D960N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D903N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	960					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.D960N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGCTGCTGGGATCTTTCCAC	0.522																																					p.D960N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2878A	1						.						77.0	70.0	72.0					1																	247607990		2203	4300	6503	245674613	SO:0001583	missense	114548	exon10			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2878G>A	1.37:g.247607990G>A	ENSP00000337383:p.Asp960Asn	Somatic		Capture	Illumina HiSeq	Phase_I	245674613	NM_001079821	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067200	0.20067	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.71	0.237	0.15475	.	0.579964	0.15585	N	0.254665	T	0.35393	0.0930	L	0.54908	1.71	0.23282	N	0.997986	B;B;B;B;B	0.24768	0.001;0.111;0.007;0.007;0.012	B;B;B;B;B	0.33799	0.003;0.17;0.017;0.019;0.009	T	0.32613	-0.9900	10	0.33141	T	0.24	.	5.0048	0.14282	0.2899:0.1513:0.5588:0.0	.	940;903;846;903;960	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	960;903;960;846;903;903	ENSP00000375704:D960N;ENSP00000355453:D903N;ENSP00000337383:D960N;ENSP00000294752:D846N;ENSP00000355452:D903N;ENSP00000375703:D903N	ENSP00000337383:D960N	D	+	1	0	NLRP3	245674613	0.902000	0.30710	0.385000	0.26158	0.939000	0.58152	-0.081000	0.11321	-0.042000	0.13535	0.549000	0.68633	GAT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR6F1	343169	broad.mit.edu	37	1	247876008	247876008	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247876008A>C	ENST00000302084.2	-	1	97	c.50T>G	c.(49-51)tTt>tGt	p.F17C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F17C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAACCAGGAAAGCCCAGTAA	0.468																																					p.F17C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T50G	1						.						111.0	113.0	113.0					1																	247876008		2203	4300	6503	245942631	SO:0001583	missense	343169	exon1			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.50T>G	1.37:g.247876008A>C	ENSP00000305640:p.Phe17Cys	Somatic		Capture	Illumina HiSeq	Phase_I	245942631	NM_001005286	B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	9.735	1.163319	0.21538	.	.	ENSG00000169214	ENST00000302084	T	0.06768	3.26	3.99	3.99	0.46301	.	0.000000	0.42420	D	0.000702	T	0.32255	0.0823	H	0.96691	3.865	0.22435	N	0.999101	D	0.65815	0.995	P	0.57371	0.819	T	0.42783	-0.9431	10	0.87932	D	0	-32.4093	7.1619	0.25669	0.8961:0.0:0.1039:0.0	.	17	Q8NGZ6	OR6F1_HUMAN	C	17	ENSP00000305640:F17C	ENSP00000305640:F17C	F	-	2	0	OR6F1	245942631	0.564000	0.26602	0.559000	0.28332	0.052000	0.14988	4.795000	0.62489	1.793000	0.52555	0.482000	0.46254	TTT		0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
OR1C1	26188	broad.mit.edu	37	1	247920899	247920899	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247920899G>A	ENST00000408896.2	-	1	1083	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S270S(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAGAGTGTCGCTCTCAGGCA	0.502																																					p.S270S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C810T	1						.						91.0	87.0	88.0					1																	247920899		2014	4202	6216	245987522	SO:0001819	synonymous_variant	26188	exon1			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.810C>T	1.37:g.247920899G>A		Somatic		Capture	Illumina HiSeq	Phase_I	245987522	NM_012353	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	CCDS41481.1																																																																																				0.502	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1		
OR14A16	284532	broad.mit.edu	37	1	247978827	247978827	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247978827G>T	ENST00000357627.1	-	1	204	c.205C>A	c.(205-207)Ctc>Atc	p.L69I		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ATAAGGCAGAGATCCAAGAAA	0.428																																					p.L69I	Ovarian(112;180 1586 15073 21914 33526)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205A	1						.						76.0	77.0	77.0					1																	247978827		2203	4300	6503	246045450	SO:0001583	missense	284532	exon1			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.205C>A	1.37:g.247978827G>T	ENSP00000350248:p.Leu69Ile	Somatic		Capture	Illumina HiSeq	Phase_I	246045450	NM_001001966	Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980873	0.18812	.	.	ENSG00000196772	ENST00000357627	T	0.02258	4.37	3.51	0.233	0.15386	GPCR, rhodopsin-like superfamily (1);	0.379664	0.18839	N	0.129723	T	0.02494	0.0076	L	0.40543	1.245	0.09310	N	1	B	0.24533	0.105	B	0.25140	0.058	T	0.42207	-0.9465	10	0.26408	T	0.33	.	12.8999	0.58119	0.0:0.0:0.3118:0.6882	.	69	Q8NHC5	O14AG_HUMAN	I	69	ENSP00000350248:L69I	ENSP00000350248:L69I	L	-	1	0	OR14A16	246045450	0.000000	0.05858	0.012000	0.15200	0.119000	0.20118	-3.986000	0.00319	-0.027000	0.13873	0.590000	0.80494	CTC		0.428	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966	
OR2M5	127059	broad.mit.edu	37	1	248309152	248309152	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248309152C>T	ENST00000366476.1	+	1	703	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R235C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGAGGGTCGTCGCAAAGCTTT	0.473																																					p.R235C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703T	1						.						258.0	243.0	248.0					1																	248309152		2203	4300	6503	246375775	SO:0001583	missense	127059	exon1				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.703C>T	1.37:g.248309152C>T	ENSP00000355432:p.Arg235Cys	Somatic		Capture	Illumina HiSeq	Phase_I	246375775	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	9.319	1.057642	0.19907	.	.	ENSG00000162727	ENST00000366476	T	0.00164	8.64	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	U	0.665935	T	0.00210	0.0006	L	0.52206	1.635	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.48636	-0.9018	10	0.87932	D	0	.	10.7569	0.46243	0.1912:0.8088:0.0:0.0	.	235	A3KFT3	OR2M5_HUMAN	C	235	ENSP00000355432:R235C	ENSP00000355432:R235C	R	+	1	0	OR2M5	246375775	0.000000	0.05858	0.009000	0.14445	0.766000	0.43426	-1.438000	0.02416	1.528000	0.49103	0.492000	0.49549	CGC		0.473	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
NIPAL3	57185	broad.mit.edu	37	1	24768667	24768667	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24768667C>A	ENST00000374399.4	+	4	653	c.285C>A	c.(283-285)gcC>gcA	p.A95A	NIPAL3_ENST00000358028.4_Silent_p.A95A|NIPAL3_ENST00000339255.2_Silent_p.A95A|NIPAL3_ENST00000003912.3_Silent_p.A13A|NIPAL3_ENST00000428131.1_Silent_p.A95A	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	95						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A95A(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTCCTACGCCTTCGCGCCGC	0.632																																					p.A95A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285A	1						.						126.0	113.0	117.0					1																	24768667		2203	4300	6503	24641254	SO:0001819	synonymous_variant	57185	exon4			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.285C>A	1.37:g.24768667C>A		Somatic		Capture	Illumina HiSeq	Phase_I	24641254	NM_020448	A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	CCDS30631.1																																																																																				0.632	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	
OR2M2	391194	broad.mit.edu	37	1	248344299	248344299	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248344299A>G	ENST00000359682.2	+	1	1012	c.1012A>G	c.(1012-1014)Aaa>Gaa	p.K338E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K338E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTATGATGTCAAAATACTAGC	0.289																																					p.K338E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1012G	1						.						140.0	151.0	147.0					1																	248344299		2203	4300	6503	246410922	SO:0001583	missense	391194	exon1			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1012A>G	1.37:g.248344299A>G	ENSP00000352710:p.Lys338Glu	Somatic		Capture	Illumina HiSeq	Phase_I	246410922	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	6.636	0.485809	0.12641	.	.	ENSG00000198601	ENST00000359682	T	0.19532	2.14	2.63	-0.151	0.13411	.	.	.	.	.	T	0.11623	0.0283	L	0.27053	0.805	0.09310	N	1	B	0.27286	0.174	B	0.16722	0.016	T	0.27020	-1.0086	9	0.87932	D	0	.	2.8444	0.05539	0.5732:0.2648:0.1619:0.0	.	338	Q96R28	OR2M2_HUMAN	E	338	ENSP00000352710:K338E	ENSP00000352710:K338E	K	+	1	0	OR2M2	246410922	0.000000	0.05858	0.011000	0.14972	0.041000	0.13682	-0.576000	0.05854	-0.142000	0.11354	0.433000	0.28618	AAA		0.289	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
OR2M4	26245	broad.mit.edu	37	1	248403116	248403116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248403116G>T	ENST00000306687.1	+	1	886	c.886G>T	c.(886-888)Gaa>Taa	p.E296*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E296*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGCAACAAAGAAGTGTTCAG	0.423																																					p.E296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G886T	1						.						70.0	66.0	67.0					1																	248403116		2203	4300	6503	246469739	SO:0001587	stop_gained	26245	exon1			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.886G>T	1.37:g.248403116G>T	ENSP00000306688:p.Glu296*	Somatic		Capture	Illumina HiSeq	Phase_I	246469739	NM_017504	Q15611|Q8NG82	Nonsense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797619	0.31777	.	.	ENSG00000171180	ENST00000306687	.	.	.	3.34	3.34	0.38264	.	0.162849	0.28393	N	0.015513	.	.	.	.	.	.	0.37180	D	0.903469	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.919	0.63919	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000306688:E296X	E	+	1	0	OR2M4	246469739	0.944000	0.32072	0.190000	0.23270	0.118000	0.20060	1.984000	0.40658	1.840000	0.53500	0.543000	0.68304	GAA		0.423	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR2T33	391195	broad.mit.edu	37	1	248436187	248436187	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248436187T>G	ENST00000318021.2	-	1	951	c.930A>C	c.(928-930)aaA>aaC	p.K310N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K310N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTGCTGGTGTTTTATGTTTA	0.418																																					p.K310N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A930C	1						.						150.0	152.0	151.0					1																	248436187		2203	4300	6503	246502810	SO:0001583	missense	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.930A>C	1.37:g.248436187T>G	ENSP00000324687:p.Lys310Asn	Somatic		Capture	Illumina HiSeq	Phase_I	246502810	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	6.562	0.472029	0.12461	.	.	ENSG00000177212	ENST00000318021	T	0.38077	1.16	1.54	0.353	0.16058	.	2.438080	0.02400	U	0.080507	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20009	-1.0288	10	0.49607	T	0.09	.	4.4853	0.11787	0.0:0.1967:0.0:0.8033	.	310	Q8NG76	O2T33_HUMAN	N	310	ENSP00000324687:K310N	ENSP00000324687:K310N	K	-	3	2	OR2T33	246502810	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.448000	0.06820	0.084000	0.17077	0.147000	0.16070	AAA		0.418	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T4	127074	broad.mit.edu	37	1	248525427	248525427	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248525427T>C	ENST00000366475.1	+	1	545	c.545T>C	c.(544-546)tTc>tCc	p.F182S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F182S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGCTGGTTCCTGGGCTCA	0.542																																					p.F182S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T545C	1						.						262.0	228.0	240.0					1																	248525427		2203	4300	6503	246592050	SO:0001583	missense	127074	exon1			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.545T>C	1.37:g.248525427T>C	ENSP00000355431:p.Phe182Ser	Somatic		Capture	Illumina HiSeq	Phase_I	246592050	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297316	0.23650	.	.	ENSG00000196944	ENST00000366475	T	0.37584	1.19	3.61	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.441477	0.19272	N	0.118381	T	0.23492	0.0568	N	0.26042	0.785	0.09310	N	1	B	0.33477	0.413	B	0.35899	0.213	T	0.12915	-1.0529	10	0.54805	T	0.06	.	5.522	0.16938	0.0:0.1104:0.336:0.5537	.	182	Q8NH00	OR2T4_HUMAN	S	182	ENSP00000355431:F182S	ENSP00000355431:F182S	F	+	2	0	OR2T4	246592050	0.001000	0.12720	0.769000	0.31535	0.383000	0.30230	0.454000	0.21827	1.264000	0.44198	0.477000	0.44152	TTC		0.542	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
OR2T34	127068	broad.mit.edu	37	1	248737422	248737422	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248737422G>T	ENST00000328782.2	-	1	658	c.637C>A	c.(637-639)Ctc>Atc	p.L213I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213F(1)|p.L213I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGGGGTGAGAAGCATGAGG	0.557																																					p.L213I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C637A	1						.						198.0	212.0	208.0					1																	248737422		2113	4300	6413	246804045	SO:0001583	missense	127068	exon1			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.637C>A	1.37:g.248737422G>T	ENSP00000330904:p.Leu213Ile	Somatic		Capture	Illumina HiSeq	Phase_I	246804045	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.031440	0.35797	.	.	ENSG00000183310	ENST00000328782	T	0.39406	1.08	2.37	0.0232	0.14136	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50786	0.1636	L	0.54908	1.71	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.33828	-0.9853	9	0.56958	D	0.05	.	3.6116	0.08062	0.2543:0.0:0.5517:0.194	.	213	Q8NGX1	O2T34_HUMAN	I	213	ENSP00000330904:L213I	ENSP00000330904:L213I	L	-	1	0	OR2T34	246804045	0.001000	0.12720	0.076000	0.20297	0.110000	0.19582	0.210000	0.17455	0.208000	0.20626	0.123000	0.15791	CTC		0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR2T27	403239	broad.mit.edu	37	1	248813772	248813772	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248813772G>A	ENST00000344889.3	-	1	413	c.414C>T	c.(412-414)cgC>cgT	p.R138R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R138R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAGATCTTGCGGCTCATGA	0.562																																					p.R138R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	1						.						75.0	52.0	60.0					1																	248813772		2200	4252	6452	246880395	SO:0001819	synonymous_variant	403239	exon1				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.414C>T	1.37:g.248813772G>A		Somatic		Capture	Illumina HiSeq	Phase_I	246880395	NM_001001824		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.562	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
OR2T27	403239	broad.mit.edu	37	1	248813942	248813942	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248813942G>A	ENST00000344889.3	-	1	243	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTCGACCAGCATTTTGGGC	0.542																																					p.L82L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C244T	1						.						34.0	24.0	27.0					1																	248813942		2193	4267	6460	246880565	SO:0001819	synonymous_variant	403239	exon1				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.244C>T	1.37:g.248813942G>A		Somatic		Capture	Illumina HiSeq	Phase_I	246880565	NM_001001824		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
PRDM16	63976	broad.mit.edu	37	1	3328657	3328657	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3328657C>T	ENST00000270722.5	+	9	1945	c.1896C>T	c.(1894-1896)gaC>gaT	p.D632D	PRDM16_ENST00000378398.3_Silent_p.D633D|PRDM16_ENST00000514189.1_Silent_p.D633D|PRDM16_ENST00000378391.2_Silent_p.D632D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.D632D|PRDM16_ENST00000441472.2_Silent_p.D632D|PRDM16_ENST00000511072.1_Silent_p.D633D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	632					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D632D(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGACAGCGACCCTGACAAGG	0.701			T	EVI1	"""MDS, AML"""																																p.D632D			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1896T	1						.						56.0	67.0	63.0					1																	3328657		2147	4233	6380	3318517	SO:0001819	synonymous_variant	63976	exon9			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1896C>T	1.37:g.3328657C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3318517	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																				0.701	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
CCDC27	148870	broad.mit.edu	37	1	3670736	3670736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3670736C>T	ENST00000294600.2	+	2	457	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125								p.R125*(1)		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)		AATGGAACTTCGAAGGGTCTT	0.597																																					p.R125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C373T	1						.						139.0	133.0	135.0					1																	3670736		2203	4300	6503	3660596	SO:0001587	stop_gained	148870	exon2				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.373C>T	1.37:g.3670736C>T	ENSP00000294600:p.Arg125*	Somatic		Capture	Illumina HiSeq	Phase_I	3660596	NM_152492	Q5TBV3|Q96M50	Nonsense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918295	0.52546	.	.	ENSG00000162592	ENST00000294600	.	.	.	3.19	-3.86	0.04230	.	0.205183	0.23789	N	0.044544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3928	6.8523	0.24022	0.6818:0.2099:0.0:0.1083	.	.	.	.	X	125	.	ENSP00000294600:R125X	R	+	1	2	CCDC27	3660596	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.084000	0.11268	-0.791000	0.04486	0.609000	0.83330	CGA		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
CCDC27	148870	broad.mit.edu	37	1	3673354	3673354	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3673354G>T	ENST00000294600.2	+	4	695	c.611G>T	c.(610-612)aGa>aTa	p.R204I		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	204								p.R204I(1)		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)		CGGAAGAGGAGAAAATCCCAG	0.547																																					p.R204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611T	1						.						77.0	76.0	77.0					1																	3673354		2203	4300	6503	3663214	SO:0001583	missense	148870	exon4				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.611G>T	1.37:g.3673354G>T	ENSP00000294600:p.Arg204Ile	Somatic		Capture	Illumina HiSeq	Phase_I	3663214	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192516	0.58017	.	.	ENSG00000162592	ENST00000294600	T	0.18502	2.21	4.06	0.987	0.19790	.	1.167710	0.06280	N	0.697257	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.36311	-0.9753	10	0.48119	T	0.1	-5.0562	4.466	0.11689	0.2161:0.1864:0.5975:0.0	.	204	Q2M243	CCD27_HUMAN	I	204	ENSP00000294600:R204I	ENSP00000294600:R204I	R	+	2	0	CCDC27	3663214	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	1.092000	0.30927	0.095000	0.17434	0.313000	0.20887	AGA		0.547	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
CEP104	9731	broad.mit.edu	37	1	3747758	3747758	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3747758G>T	ENST00000378230.3	-	13	2012	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	563						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.S563Y(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AATTTGGAGAGACTTAACTTC	0.428																																					p.S563Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688A	1						.						116.0	118.0	117.0					1																	3747758		2203	4300	6503	3737618	SO:0001583	missense	9731	exon13			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1688C>A	1.37:g.3747758G>T	ENSP00000367476:p.Ser563Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3737618	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819333	0.50633	.	.	ENSG00000116198	ENST00000378230	T	0.67345	-0.26	5.33	3.4	0.38934	Armadillo-like helical (1);Armadillo-type fold (1);	0.350601	0.30338	N	0.009853	T	0.71350	0.3329	M	0.63428	1.95	0.80722	D	1	D	0.59767	0.986	P	0.54312	0.748	T	0.71886	-0.4457	10	0.72032	D	0.01	.	9.9577	0.41678	0.0:0.1505:0.6929:0.1566	.	563	O60308	CE104_HUMAN	Y	563	ENSP00000367476:S563Y	ENSP00000367476:S563Y	S	-	2	0	CEP104	3737618	1.000000	0.71417	0.356000	0.25785	0.630000	0.37929	6.505000	0.73708	0.585000	0.29608	-0.183000	0.12914	TCT		0.428	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CEP104	9731	broad.mit.edu	37	1	3751576	3751576	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3751576A>T	ENST00000378230.3	-	11	1722	c.1398T>A	c.(1396-1398)ccT>ccA	p.P466P	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	466						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.P466P(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGTTCCAACAGGCATTTCCA	0.473																																					p.P466P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1398A	1						.						129.0	120.0	123.0					1																	3751576		2203	4300	6503	3741436	SO:0001819	synonymous_variant	9731	exon11			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1398T>A	1.37:g.3751576A>T		Somatic		Capture	Illumina HiSeq	Phase_I	3741436	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	CCDS30571.1																																																																																				0.473	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CEP104	9731	broad.mit.edu	37	1	3765182	3765182	+	Nonsense_Mutation	SNP	G	G	A	rs145420390		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3765182G>A	ENST00000378230.3	-	3	601	c.277C>T	c.(277-279)Cga>Tga	p.R93*	CEP104_ENST00000378223.3_Nonsense_Mutation_p.R93*	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	93						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R93*(3)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCAAGTCTTCGAAACCGCTCT	0.358																																					p.R93X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|skin(1)	c.C277T	1						.						91.0	92.0	92.0					1																	3765182		2203	4300	6503	3755042	SO:0001587	stop_gained	9731	exon3			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.277C>T	1.37:g.3765182G>A	ENSP00000367476:p.Arg93*	Somatic		Capture	Illumina HiSeq	Phase_I	3755042	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	40	8.258558	0.98729	.	.	ENSG00000116198	ENST00000378230;ENST00000378223	.	.	.	5.14	5.14	0.70334	.	0.204058	0.42964	D	0.000640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6015	0.88026	0.0:0.0:1.0:0.0	.	.	.	.	X	93	.	ENSP00000367468:R93X	R	-	1	2	CEP104	3755042	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	7.156000	0.77453	2.395000	0.81488	0.591000	0.81541	CGA		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CEP104	9731	broad.mit.edu	37	1	3765296	3765296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3765296G>A	ENST00000378230.3	-	3	487	c.163C>T	c.(163-165)Cga>Tga	p.R55*	CEP104_ENST00000378223.3_Nonsense_Mutation_p.R55*	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	55						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R55*(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCTTATTCGACATCTCTCC	0.358																																					p.R55X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C163T	1						.						99.0	91.0	94.0					1																	3765296		2203	4300	6503	3755156	SO:0001587	stop_gained	9731	exon3			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.163C>T	1.37:g.3765296G>A	ENSP00000367476:p.Arg55*	Somatic		Capture	Illumina HiSeq	Phase_I	3755156	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	38	7.268999	0.98175	.	.	ENSG00000116198	ENST00000378230;ENST00000378223	.	.	.	5.53	3.58	0.41010	.	0.069220	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6642	0.51364	0.0:0.1342:0.7263:0.1395	.	.	.	.	X	55	.	ENSP00000367468:R55X	R	-	1	2	CEP104	3755156	1.000000	0.71417	0.931000	0.37212	0.925000	0.55904	2.779000	0.47734	0.632000	0.30432	0.655000	0.94253	CGA		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
C1orf174	339448	broad.mit.edu	37	1	3807157	3807157	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3807157G>T	ENST00000361605.3	-	3	692	c.594C>A	c.(592-594)ttC>ttA	p.F198L	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	198						nucleus (GO:0005634)		p.F198L(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CGTTTCCAAAGAACCGGCTCA	0.562																																					p.F198L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C594A	1						.						84.0	80.0	82.0					1																	3807157		2203	4300	6503	3797017	SO:0001583	missense	339448	exon3			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.594C>A	1.37:g.3807157G>T	ENSP00000355306:p.Phe198Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3797017	NM_207356	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832110	0.91036	.	.	ENSG00000198912	ENST00000361605	T	0.61158	0.13	5.28	3.41	0.39046	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.70595	2.14	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.74163	-0.3754	10	0.87932	D	0	-25.9301	10.2892	0.43586	0.1586:0.0:0.8414:0.0	.	198	Q8IYL3	CA174_HUMAN	L	198	ENSP00000355306:F198L	ENSP00000355306:F198L	F	-	3	2	C1orf174	3797017	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	4.125000	0.57931	1.226000	0.43582	0.563000	0.77884	TTC		0.562	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356	
AJAP1	55966	broad.mit.edu	37	1	4829940	4829940	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:4829940T>C	ENST00000378191.4	+	3	1238	c.857T>C	c.(856-858)aTc>aCc	p.I286T	AJAP1_ENST00000378190.3_Missense_Mutation_p.I286T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	286					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I286T(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCATCACCATCACCGTCTCC	0.547																																					p.I286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T857C	1						.						221.0	202.0	209.0					1																	4829940		2203	4300	6503	4729800	SO:0001583	missense	55966	exon3			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.857T>C	1.37:g.4829940T>C	ENSP00000367433:p.Ile286Thr	Somatic		Capture	Illumina HiSeq	Phase_I	4729800	NM_001042478	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429804	0.43122	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.62498	0.02;0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	L	0.27053	0.805	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.73304	-0.4025	10	0.87932	D	0	-35.5598	14.7407	0.69451	0.0:0.0:0.0:1.0	.	286	Q9UKB5	AJAP1_HUMAN	T	286	ENSP00000367432:I286T;ENSP00000367433:I286T	ENSP00000367432:I286T	I	+	2	0	AJAP1	4729800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.410000	0.80065	2.081000	0.62600	0.383000	0.25322	ATC		0.547	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	
AJAP1	55966	broad.mit.edu	37	1	4832513	4832513	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:4832513C>A	ENST00000378191.4	+	4	1472	c.1091C>A	c.(1090-1092)tCt>tAt	p.S364Y	AJAP1_ENST00000378190.3_Missense_Mutation_p.S364Y	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	364	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S364Y(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GTCAGGGCATCTGTGCCCGTG	0.587																																					p.S364Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1091A	1						.						72.0	64.0	66.0					1																	4832513		2203	4300	6503	4732373	SO:0001583	missense	55966	exon4			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1091C>A	1.37:g.4832513C>A	ENSP00000367433:p.Ser364Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	4732373	NM_001042478	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086039	0.36855	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.12	5.12	0.69794	.	0.396789	0.27971	N	0.017110	T	0.36468	0.0968	N	0.14661	0.345	0.09310	N	1	D	0.54207	0.965	P	0.48141	0.568	T	0.33007	-0.9885	10	0.62326	D	0.03	-6.9091	17.1126	0.86680	0.0:1.0:0.0:0.0	.	364	Q9UKB5	AJAP1_HUMAN	Y	364	ENSP00000367432:S364Y;ENSP00000367433:S364Y	ENSP00000367432:S364Y	S	+	2	0	AJAP1	4732373	0.993000	0.37304	0.006000	0.13384	0.014000	0.08584	5.516000	0.67055	2.380000	0.81148	0.561000	0.74099	TCT		0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	
TAS1R1	80835	broad.mit.edu	37	1	6634953	6634953	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:6634953A>G	ENST00000333172.6	+	3	954	c.761A>G	c.(760-762)gAg>gGg	p.E254G	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.E254G	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	254					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E254G(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGGCGATGAGAGGATGCAG	0.622																																					p.E254G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A761G	1						.						75.0	76.0	76.0					1																	6634953		2203	4300	6503	6557540	SO:0001583	missense	80835	exon3				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.761A>G	1.37:g.6634953A>G	ENSP00000331867:p.Glu254Gly	Somatic		Capture	Illumina HiSeq	Phase_I	6557540	NM_138697	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.185|5.185	0.219746|0.219746	0.09863|0.09863	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000328191|ENST00000411823	D;D|.	0.83419|.	-1.72;-1.72|.	5.4|5.4	0.418|0.418	0.16429|0.16429	Extracellular ligand-binding receptor (1);|.	2.579040|.	0.01033|.	N|.	0.004177|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.35644|0.35644	1.08|1.08	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.26538|0.26538	-1.0100|-1.0100	10|5	0.42905|.	T|.	0.14|.	.|.	6.2784|6.2784	0.20993|0.20993	0.4204:0.3937:0.1858:0.0|0.4204:0.3937:0.1858:0.0	.|.	254;254|.	Q7RTX1-3;Q7RTX1|.	.;TS1R1_HUMAN|.	G|G	254|180	ENSP00000331867:E254G;ENSP00000327705:E254G|.	ENSP00000327705:E254G|.	E|R	+|+	2|1	0|2	TAS1R1|TAS1R1	6557540|6557540	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	0.753000|0.753000	0.26376|0.26376	0.310000|0.310000	0.22990|0.22990	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.622	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
RERE	473	broad.mit.edu	37	1	8617492	8617492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:8617492G>A	ENST00000337907.3	-	6	1247	c.613C>T	c.(613-615)Cga>Tga	p.R205*	RERE_ENST00000400908.2_Nonsense_Mutation_p.R205*|RERE_ENST00000400907.2_Nonsense_Mutation_p.R205*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	205	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R205*(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCATTATGTCGATCCTGAACC	0.373																																					p.R205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C613T	1						.						122.0	109.0	113.0					1																	8617492		2203	4300	6503	8540079	SO:0001587	stop_gained	473	exon6			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.613C>T	1.37:g.8617492G>A	ENSP00000338629:p.Arg205*	Somatic		Capture	Illumina HiSeq	Phase_I	8540079	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595908	0.86953	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9593	14.8265	0.70117	0.0:0.0:0.8556:0.1444	.	.	.	.	X	205	.	ENSP00000338629:R205X	R	-	1	2	RERE	8540079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.685000	0.84117	2.861000	0.98227	0.655000	0.94253	CGA		0.373	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
SLC2A5	6518	broad.mit.edu	37	1	9107724	9107724	+	Silent	SNP	G	G	A	rs140613656		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:9107724G>A	ENST00000377424.4	-	4	542	c.363C>T	c.(361-363)gtC>gtT	p.V121V	SLC2A5_ENST00000377414.3_Silent_p.V121V|SLC2A5_ENST00000535586.1_Silent_p.V6V|SLC2A5_ENST00000536305.1_Silent_p.V62V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	121					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.V121V(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGTGGCGACTCTGCTGC	0.428																																					p.V121V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363T	1						.	G	,	0,4406		0,0,2203	231.0	213.0	219.0		363,363	-6.6	0.0	1	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC2A5	NM_001135585.1,NM_003039.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	121/245,121/502	9107724	1,13005	2203	4300	6503	9030311	SO:0001819	synonymous_variant	6518	exon4			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.363C>T	1.37:g.9107724G>A		Somatic		Capture	Illumina HiSeq	Phase_I	9030311	NM_001135585	Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																				0.428	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039	
SLC2A5	6518	broad.mit.edu	37	1	9117644	9117644	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:9117644C>A	ENST00000377424.4	-	3	335	c.156G>T	c.(154-156)gaG>gaT	p.E52D	SLC2A5_ENST00000377414.3_Missense_Mutation_p.E52D|SLC2A5_ENST00000535586.1_Intron	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	52					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.E52D(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATAGTAAGTCTCATTGTAAA	0.423																																					p.E52D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G156T	1						.						89.0	76.0	81.0					1																	9117644		2203	4300	6503	9040231	SO:0001583	missense	6518	exon3			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.156G>T	1.37:g.9117644C>A	ENSP00000366641:p.Glu52Asp	Somatic		Capture	Illumina HiSeq	Phase_I	9040231	NM_001135585	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	5.215	0.225097	0.09916	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000377414	T;T	0.75050	-0.9;-0.9	5.67	-5.37	0.02681	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.380280	0.04025	N	0.300479	T	0.54822	0.1882	N	0.21282	0.65	0.80722	D	1	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.17979	0.02;0.004;0.01	T	0.38585	-0.9654	10	0.21540	T	0.41	.	5.0843	0.14673	0.0781:0.1975:0.4729:0.2515	.	52;52;52	B4DIU4;P22732-2;P22732	.;.;GTR5_HUMAN	D	52;35;52	ENSP00000366641:E52D;ENSP00000366631:E52D	ENSP00000366631:E52D	E	-	3	2	SLC2A5	9040231	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	-1.166000	0.03129	-0.469000	0.06911	-0.793000	0.03317	GAG		0.423	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039	
CLSTN1	22883	broad.mit.edu	37	1	9795966	9795966	+	Missense_Mutation	SNP	C	C	T	rs201640412		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:9795966C>T	ENST00000377298.4	-	12	2503	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	CLSTN1_ENST00000377288.3_Missense_Mutation_p.E552K|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.E561K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	571					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.E571K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCACTGTCTTCGAGGACCTGC	0.597																																					p.E561K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1681A	1						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	65.0	65.0	65.0		1711,1681	5.8	0.1	1		65	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	56,56	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	571/982,561/972	9795966	4,13002	2203	4300	6503	9718553	SO:0001583	missense	22883	exon11			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1711G>A	1.37:g.9795966C>T	ENSP00000366513:p.Glu571Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9718553	NM_014944	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085223	0.55861	0.0	4.65E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	0.152343	0.64402	D	0.000017	T	0.45034	0.1322	L	0.55481	1.735	0.58432	D	0.99999	P;D;D	0.58620	0.95;0.983;0.971	B;P;B	0.47981	0.164;0.563;0.359	T	0.23833	-1.0177	10	0.39692	T	0.17	-13.2539	19.9983	0.97395	0.0:1.0:0.0:0.0	.	552;561;571	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	K	571;561;372;552;552	ENSP00000366513:E571K;ENSP00000354997:E561K;ENSP00000401934:E372K;ENSP00000366502:E552K	ENSP00000354997:E561K	E	-	1	0	CLSTN1	9718553	1.000000	0.71417	0.057000	0.19452	0.313000	0.28021	4.859000	0.62954	2.724000	0.93272	0.561000	0.74099	GAA		0.597	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		
RBP7	116362	broad.mit.edu	37	1	10075848	10075848	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:10075848C>A	ENST00000294435.7	+	4	406	c.363C>A	c.(361-363)ttC>ttA	p.F121L		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	121						cytoplasm (GO:0005737)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.F121L(1)		endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	AGGAAATGTTCTGTGAAGGTC	0.428																																					p.F121L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C363A	1						.						138.0	115.0	123.0					1																	10075848		2203	4300	6503	9998435	SO:0001583	missense	116362	exon4			AF399927	CCDS109.1	1p36.22	2013-03-01			ENSG00000162444	ENSG00000162444		"""Fatty acid binding protein family"""	30316	protein-coding gene	gene with protein product		608604				12177003	Standard	NM_052960		Approved	CRBPIV	uc001aqq.3	Q96R05	OTTHUMG00000001798	ENST00000294435.7:c.363C>A	1.37:g.10075848C>A	ENSP00000294435:p.Phe121Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9998435	NM_052960	B2R517|Q5SWJ4	Missense_Mutation	SNP	ENST00000294435.7	37	CCDS109.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725793	0.30593	.	.	ENSG00000162444	ENST00000315901;ENST00000294435	T	0.07444	3.19	4.26	4.26	0.50523	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.568379	0.15533	N	0.257387	T	0.05960	0.0155	N	0.14661	0.345	0.38172	D	0.939362	B	0.26400	0.148	B	0.24006	0.05	T	0.38520	-0.9657	10	0.42905	T	0.14	.	12.1187	0.53880	0.0:1.0:0.0:0.0	.	121	Q96R05	RET7_HUMAN	L	168;121	ENSP00000294435:F121L	ENSP00000294435:F121L	F	+	3	2	RBP7	9998435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.532000	0.36029	2.233000	0.73108	0.585000	0.79938	TTC		0.428	RBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005027.2	NM_052960	
VPS13D	55187	broad.mit.edu	37	1	12393276	12393276	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12393276C>A	ENST00000358136.3	+	38	8417				VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.?(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCTGTGTTCTTTTAGGCTG	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						78.0	77.0	77.0					1																	12393276		2203	4300	6503	12315863	SO:0001627	intron_variant	55187	.			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8288-7C>A	1.37:g.12393276C>A		Somatic		Capture	Illumina HiSeq	Phase_I	12315863	.		Intron	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																				0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12398370	12398370	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:12398370A>G	ENST00000358136.3	+	40	8756				VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.?(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGGTACAGTATAGCCAAGCG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						153.0	147.0	149.0					1																	12398370		2203	4300	6503	12320957	SO:0001627	intron_variant	55187	.			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8626+8A>G	1.37:g.12398370A>G		Somatic		Capture	Illumina HiSeq	Phase_I	12320957	.		Intron	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																				0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
ATP13A2	23400	broad.mit.edu	37	1	17331328	17331328	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:17331328G>T	ENST00000326735.8	-	5	381				ATP13A2_ENST00000452699.1_Intron|ATP13A2_ENST00000341676.5_Intron|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2						cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGGGAAGCAGGTGAGGGTTA	0.657																																					.												.	.	0			.	1						.						40.0	45.0	43.0					1																	17331328		2203	4300	6503	17203915	SO:0001627	intron_variant	23400	.			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.348-12C>A	1.37:g.17331328G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17203915	.	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Intron	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.657	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
UBR4	23352	broad.mit.edu	37	1	19488399	19488399	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:19488399A>C	ENST00000375254.3	-	36	4984				UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375267.2_Intron	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCCTTCAAAAATAATAAGTC	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						61.0	62.0	62.0					1																	19488399		2203	4300	6503	19360986	SO:0001627	intron_variant	23352	.			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4957-8T>G	1.37:g.19488399A>C		Somatic		Capture	Illumina HiSeq	Phase_I	19360986	.	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Intron	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.378	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
PLA2G2C	391013	broad.mit.edu	37	1	20499280	20499280	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:20499280T>A	ENST00000429261.2	-	3	344				PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Intron			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC						lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.?(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGAAAAGGCTACTCACAAAC	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						63.0	63.0	63.0					1																	20499280		1960	4150	6110	20371867	SO:0001627	intron_variant	391013	.					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.283+6A>T	1.37:g.20499280T>A		Somatic		Capture	Illumina HiSeq	Phase_I	20371867	.	Q7M4M6	Intron	SNP	ENST00000429261.2	37																																																																																					0.468	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572	
EPHB2	2048	broad.mit.edu	37	1	23222892	23222892	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:23222892C>T	ENST00000400191.3	+	9	1718				EPHB2_ENST00000374627.1_Intron|EPHB2_ENST00000465676.1_Intron|EPHB2_ENST00000374630.3_Intron|EPHB2_ENST00000374632.3_Intron	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCCCTTTGCTCTTGTTCCA	0.612																																					.												.	.	0			.	1						.						78.0	71.0	73.0					1																	23222892		2203	4300	6503	23095479	SO:0001627	intron_variant	2048	.			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1701-15C>T	1.37:g.23222892C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23095479	.	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Intron	SNP	ENST00000400191.3	37																																																																																					0.612	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
MYOM3	127294	broad.mit.edu	37	1	24387543	24387543	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24387543G>A	ENST00000374434.3	-	35	4157				RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Intron|MYOM3_ENST00000330966.7_Intron	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3							M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AATATCGGCCGACTTACTCTT	0.493																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						73.0	73.0	73.0					1																	24387543		1905	4135	6040	24260130	SO:0001627	intron_variant	127294	.			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3994+6C>T	1.37:g.24387543G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24260130	.	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Intron	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																				0.493	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	
GRHL3	57822	broad.mit.edu	37	1	24680863	24680863	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24680863G>T	ENST00000350501.5	+	15	1821				GRHL3_ENST00000342072.4_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site|GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000361548.4_Splice_Site|STPG1_ENST00000468303.1_5'Flank	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)						central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCCATTCCAGAATCTTAGTC	0.517																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						145.0	122.0	130.0					1																	24680863		2203	4300	6503	24553450	SO:0001627	intron_variant	57822	.			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1694+4251G>T	1.37:g.24680863G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24553450	.	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Splice_Site	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160248	0.78226	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000356046;ENST00000236255	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9964	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL3	24553450	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.807000	0.91935	2.808000	0.96608	0.655000	0.94253	.		0.517	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
SRRM1	10250	broad.mit.edu	37	1	24978045	24978045	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:24978045C>T	ENST00000323848.9	+	6	982	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	SRRM1_ENST00000537199.1_Missense_Mutation_p.L92F|SRRM1_ENST00000447431.2_Missense_Mutation_p.L223F|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.L223F	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	223	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L223F(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AACTCCAGAGCTCCCAGAACC	0.423																																					p.L223F	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	1						.						47.0	55.0	52.0					1																	24978045		2203	4300	6503	24850632	SO:0001583	missense	10250	exon6			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.667C>T	1.37:g.24978045C>T	ENSP00000326261:p.Leu223Phe	Somatic		Capture	Illumina HiSeq	Phase_I	24850632	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202869	0.58234	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.50277	0.9;0.91;0.89;0.75	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000143	T	0.48059	0.1479	N	0.08118	0	0.42041	D	0.991071	D;D	0.62365	0.991;0.984	D;P	0.75484	0.986;0.86	T	0.49476	-0.8936	10	0.25751	T	0.34	-2.2249	15.5685	0.76313	0.0:1.0:0.0:0.0	.	223;223	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	F	223;223;223;92	ENSP00000326261:L223F;ENSP00000391430:L223F;ENSP00000363510:L223F;ENSP00000441776:L92F	ENSP00000326261:L223F	L	+	1	0	SRRM1	24850632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.490000	0.53245	2.734000	0.93682	0.650000	0.86243	CTC		0.423	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
SYF2	25949	broad.mit.edu	37	1	25549814	25549814	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:25549814G>T	ENST00000236273.4	-	7	700	c.675C>A	c.(673-675)ttC>ttA	p.F225L	SYF2_ENST00000354361.3_Missense_Mutation_p.F183L	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	225					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F225L(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		ATTTCCCATAGAATCTTTCAG	0.363																																					p.F183L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C549A	1						.						158.0	163.0	162.0					1																	25549814		2202	4300	6502	25422401	SO:0001583	missense	25949	exon6			AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.675C>A	1.37:g.25549814G>T	ENSP00000236273:p.Phe225Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25422401	NM_207170	Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	CCDS259.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937231	0.92458	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.50001	0.76;0.78	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.92738	3.34	0.80722	D	1	D;D	0.60575	0.988;0.973	D;P	0.62955	0.909;0.846	T	0.76476	-0.2945	10	0.51188	T	0.08	-11.8404	11.8729	0.52531	0.0806:0.0:0.9194:0.0	.	225;225	B2RBX8;O95926	.;SYF2_HUMAN	L	225;183	ENSP00000236273:F225L;ENSP00000346330:F183L	ENSP00000236273:F225L	F	-	3	2	SYF2	25422401	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.388000	0.73195	2.778000	0.95560	0.655000	0.94253	TTC		0.363	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484	
RHD	6007	broad.mit.edu	37	1	25611169	25611169	+	Missense_Mutation	SNP	C	C	A	rs139501061	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:25611169C>A	ENST00000328664.4	+	2	409	c.254C>A	c.(253-255)gCg>gAg	p.A85E	RHD_ENST00000342055.5_Missense_Mutation_p.A85E|RHD_ENST00000423810.2_Missense_Mutation_p.A85E|RHD_ENST00000568195.1_Missense_Mutation_p.A85E|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A85E|RHD_ENST00000454452.2_Missense_Mutation_p.A85E|RHD_ENST00000357542.4_Missense_Mutation_p.A85E	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	85						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.A85E(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCATGCTGGCGCTTGGTGTG	0.582																																					p.A85E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254A	1						.						71.0	64.0	67.0					1																	25611169		2133	3715	5848	25483756	SO:0001583	missense	6007	exon2			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.254C>A	1.37:g.25611169C>A	ENSP00000331871:p.Ala85Glu	Somatic		Capture	Illumina HiSeq	Phase_I	25483756	NM_001127691	Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	CCDS262.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671489	0.29693	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	2.91	1.98	0.26296	Ammonium transporter AmtB-like (3);	0.250543	0.37857	N	0.001909	T	0.52821	0.1758	M	0.92412	3.305	0.52099	D	0.999941	D;D;D;D;D;D;D;D	0.76494	0.997;0.996;0.998;0.999;0.993;0.999;0.998;0.993	D;D;P;D;D;D;D;D	0.76071	0.987;0.979;0.902;0.986;0.971;0.984;0.986;0.953	T	0.53472	-0.8434	10	0.87932	D	0	-9.2133	5.8172	0.18500	0.0:0.8431:0.0:0.1569	.	85;85;85;85;85;85;85;85	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	E	85	ENSP00000331871:A85E;ENSP00000413849:A85E;ENSP00000339577:A85E;ENSP00000350150:A85E;ENSP00000396420:A85E;ENSP00000399640:A85E	ENSP00000331871:A85E	A	+	2	0	RHD	25483756	0.909000	0.30893	0.770000	0.31555	0.145000	0.21501	1.111000	0.31159	0.559000	0.29153	0.184000	0.17185	GCG		0.582	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124	
TMEM50A	23585	broad.mit.edu	37	1	25667035	25667035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:25667035C>T	ENST00000374358.4	+	2	611	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	TMEM50A_ENST00000480937.1_3'UTR|RNU6-1171P_ENST00000516706.1_RNA	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	20						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R20C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GGGGGAAAAGCGCAATACTAT	0.368																																					p.R20C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58T	1						.						122.0	108.0	113.0					1																	25667035		2203	4300	6503	25539622	SO:0001583	missense	23585	exon2			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.58C>T	1.37:g.25667035C>T	ENSP00000363478:p.Arg20Cys	Somatic		Capture	Illumina HiSeq	Phase_I	25539622	NM_014313		Missense_Mutation	SNP	ENST00000374358.4	37	CCDS264.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.302681	0.81136	.	.	ENSG00000183726	ENST00000374358	T	0.32988	1.43	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69139	-0.5224	10	0.87932	D	0	.	12.5185	0.56046	0.1669:0.8331:0.0:0.0	.	20;20	B7Z5M7;O95807	.;TM50A_HUMAN	C	20	ENSP00000363478:R20C	ENSP00000363478:R20C	R	+	1	0	TMEM50A	25539622	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.736000	0.47385	2.473000	0.83533	0.591000	0.81541	CGC		0.368	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1		
TMEM50A	23585	broad.mit.edu	37	1	25678172	25678172	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:25678172C>A	ENST00000374358.4	+	4	815	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	88						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L88M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TGAAGGTTGTCTGGGTCAAAC	0.358																																					p.L88M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262A	1						.						167.0	156.0	160.0					1																	25678172		2203	4300	6503	25550759	SO:0001583	missense	23585	exon4			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.262C>A	1.37:g.25678172C>A	ENSP00000363478:p.Leu88Met	Somatic		Capture	Illumina HiSeq	Phase_I	25550759	NM_014313		Missense_Mutation	SNP	ENST00000374358.4	37	CCDS264.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680972	0.47886	.	.	ENSG00000183726	ENST00000374358	T	0.31510	1.49	5.54	5.54	0.83059	.	0.165194	0.52532	D	0.000075	T	0.30324	0.0761	L	0.35487	1.065	0.38886	D	0.957012	B;B	0.27732	0.093;0.187	B;B	0.38880	0.111;0.284	T	0.14839	-1.0458	10	0.34782	T	0.22	.	13.0904	0.59164	0.1605:0.8395:0.0:0.0	.	88;88	B7Z5M7;O95807	.;TM50A_HUMAN	M	88	ENSP00000363478:L88M	ENSP00000363478:L88M	L	+	1	2	TMEM50A	25550759	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.876000	0.28092	2.606000	0.88127	0.645000	0.84053	CTG		0.358	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1		
MAN1C1	57134	broad.mit.edu	37	1	26012988	26012988	+	Missense_Mutation	SNP	C	C	T	rs147313933	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26012988C>T	ENST00000374332.4	+	2	928	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R20C	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	200					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R200C(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AAACGAACTCCGTCCACTAAC	0.493																																					p.R200C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C598T	1						.	C	CYS/ARG	0,4406		0,0,2203	169.0	159.0	162.0		598	5.3	1.0	1	dbSNP_134	162	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MAN1C1	NM_020379.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	200/631	26012988	4,13002	2203	4300	6503	25885575	SO:0001583	missense	57134	exon2			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.598C>T	1.37:g.26012988C>T	ENSP00000363452:p.Arg200Cys	Somatic		Capture	Illumina HiSeq	Phase_I	25885575	NM_020379	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357789	0.61403	0.0	4.65E-4	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.74106	-0.81;-0.81	5.3	5.3	0.74995	.	0.140199	0.47852	D	0.000213	D	0.86381	0.5919	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86884	0.2044	10	0.49607	T	0.09	.	14.8058	0.69956	0.0:1.0:0.0:0.0	.	200	Q9NR34	MA1C1_HUMAN	C	200;20;20	ENSP00000363452:R200C;ENSP00000263979:R20C	ENSP00000263979:R20C	R	+	1	0	MAN1C1	25885575	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.090000	0.41682	2.632000	0.89209	0.563000	0.77884	CGT		0.493	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	
MTFR1L	56181	broad.mit.edu	37	1	26156121	26156121	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26156121G>T	ENST00000374301.3	+	6	881	c.573G>T	c.(571-573)gaG>gaT	p.E191D	MTFR1L_ENST00000374303.2_Missense_Mutation_p.E191D|MTFR1L_ENST00000374307.5_Missense_Mutation_p.E179D|MTFR1L_ENST00000466284.1_Missense_Mutation_p.R155M|MTFR1L_ENST00000469815.1_3'UTR|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000524618.1_Missense_Mutation_p.E94D|MTFR1L_ENST00000474295.1_Missense_Mutation_p.R155M|MTFR1L_ENST00000374300.3_Missense_Mutation_p.E191D|MTFR1L_ENST00000526894.1_Intron	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	191								p.E191D(1)									ACATCACCGAGGAGACAGAGG	0.478																																					p.R155M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464T	1						.						203.0	182.0	188.0					1																	26156121		1917	4142	6059	26028708	SO:0001583	missense	56181	exon6				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.573G>T	1.37:g.26156121G>T	ENSP00000363419:p.Glu191Asp	Somatic		Capture	Illumina HiSeq	Phase_I	26028708	NM_001099627	A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	CCDS41284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.03|15.03	2.710865|2.710865	0.48517|0.48517	.|.	.|.	ENSG00000117640|ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300|ENST00000474295;ENST00000466284	T;T;T;T;T;T|T;T	0.47528|0.43294	0.84;0.84;0.84;0.84;0.84;0.84|0.95;0.95	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	0.049248|.	0.85682|.	D|.	0.000000|.	T|T	0.51143|0.51143	0.1657|0.1657	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D|D	0.76494|0.65815	0.999;0.996;0.997|0.995	D;D;D|P	0.80764|0.58873	0.994;0.978;0.987|0.847	T|T	0.50294|0.50294	-0.8845|-0.8845	10|9	0.12766|0.46703	T|T	0.61|0.11	-0.2507|-0.2507	11.5552|11.5552	0.50743|0.50743	0.1353:0.0:0.8647:0.0|0.1353:0.0:0.8647:0.0	.|.	224;179;191|155	B4DRE5;Q9H019-3;Q9H019|Q9H019-2	.;.;FA54B_HUMAN|.	D|M	191;94;94;179;191;191|155	ENSP00000363421:E191D;ENSP00000432719:E94D;ENSP00000435193:E94D;ENSP00000363426:E179D;ENSP00000363419:E191D;ENSP00000363418:E191D|ENSP00000435461:R155M;ENSP00000434751:R155M	ENSP00000363418:E191D|ENSP00000434751:R155M	E|R	+|+	3|2	2|0	FAM54B|FAM54B	26028708|26028708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.618000|3.618000	0.54188|0.54188	1.636000|1.636000	0.50526|0.50526	-0.136000|-0.136000	0.14681|0.14681	GAG|AGG		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557	
AUNIP	79000	broad.mit.edu	37	1	26161929	26161929	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26161929C>A	ENST00000374298.3	-	3	683	c.629G>T	c.(628-630)aGt>aTt	p.S210I	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.S210I	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	210	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.S210I(1)									TTTCTCCATACTCTGATAGTT	0.453																																					p.S210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629T	1						.						169.0	171.0	170.0					1																	26161929		2203	4300	6503	26034516	SO:0001583	missense	79000	exon3				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.629G>T	1.37:g.26161929C>A	ENSP00000363416:p.Ser210Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26034516	NM_024037	C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	CCDS266.1	.	.	.	.	.	.	.	.	.	.	C	6.073	0.381751	0.11524	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.46451	0.87;0.87	5.22	-3.73	0.04398	.	1.068550	0.07273	N	0.869423	T	0.25901	0.0631	N	0.19112	0.55	0.09310	N	1	B	0.26258	0.145	B	0.28232	0.087	T	0.34925	-0.9809	10	0.52906	T	0.07	-10.3285	6.9352	0.24463	0.0:0.3113:0.1284:0.5602	.	210	Q9H7T9	CA135_HUMAN	I	210	ENSP00000443647:S210I;ENSP00000363416:S210I	ENSP00000363416:S210I	S	-	2	0	C1orf135	26034516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.794000	0.04584	-0.634000	0.05538	0.585000	0.79938	AGT		0.453	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037	
PAQR7	164091	broad.mit.edu	37	1	26189782	26189782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26189782C>T	ENST00000374296.3	-	2	1215	c.549G>A	c.(547-549)tgG>tgA	p.W183*	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	183					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.W183*(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGGAAAGCCAGGCGAGAA	0.592																																					p.W183X	Esophageal Squamous(111;1206 1556 18433 19151 38418)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G549A	1						.						75.0	78.0	77.0					1																	26189782		2203	4300	6503	26062369	SO:0001587	stop_gained	164091	exon2				CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.549G>A	1.37:g.26189782C>T	ENSP00000363414:p.Trp183*	Somatic		Capture	Illumina HiSeq	Phase_I	26062369	NM_178422	A2A2D3|Q5XKF9|Q86VE4	Nonsense_Mutation	SNP	ENST00000374296.3	37	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	41	8.757250	0.98941	.	.	ENSG00000182749	ENST00000374296	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2128	17.2415	0.87014	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000363414:W183X	W	-	3	0	PAQR7	26062369	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.609000	0.82925	2.666000	0.90696	0.655000	0.94253	TGG		0.592	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422	
STMN1	3925	broad.mit.edu	37	1	26230226	26230226	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26230226G>T	ENST00000399728.1	-	3	455	c.92C>A	c.(91-93)tCt>tAt	p.S31Y	STMN1_ENST00000455785.2_Missense_Mutation_p.S31Y|STMN1_ENST00000374291.1_Missense_Mutation_p.S31Y|STMN1_ENST00000426559.2_Missense_Mutation_p.S31Y|STMN1_ENST00000357865.2_Missense_Mutation_p.S31Y|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000465604.1_5'UTR	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	31	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)	p.S31Y(1)		breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGAACAGATTCTTTTGA	0.433																																					p.S31Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92A	1						.						82.0	89.0	86.0					1																	26230226		2203	4300	6503	26102813	SO:0001583	missense	3925	exon3			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.92C>A	1.37:g.26230226G>T	ENSP00000382633:p.Ser31Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	26102813	NM_203399	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Missense_Mutation	SNP	ENST00000399728.1	37	CCDS269.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693012	0.68271	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	4.81	0.61882	.	0.242156	0.40064	N	0.001193	T	0.47525	0.1450	L	0.43152	1.355	0.25623	N	0.986376	D;B;B	0.61080	0.989;0.347;0.347	P;B;B	0.52066	0.689;0.356;0.335	T	0.45323	-0.9269	9	0.72032	D	0.01	.	14.5937	0.68389	0.0707:0.0:0.9293:0.0	.	31;31;31	P16949-2;B5BU83;P16949	.;.;STMN1_HUMAN	Y	31	.	ENSP00000350531:S31Y	S	-	2	0	STMN1	26102813	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.439000	0.80444	1.435000	0.47434	0.655000	0.94253	TCT		0.433	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563	
EXTL1	2134	broad.mit.edu	37	1	26355723	26355723	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26355723C>T	ENST00000374280.3	+	2	1686	c.819C>T	c.(817-819)tgC>tgT	p.C273C	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	273					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.C273C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTTCTGCCTCATCTCTG	0.627																																					p.C273C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819T	1						.						93.0	88.0	89.0					1																	26355723		2203	4300	6503	26228310	SO:0001819	synonymous_variant	2134	exon2			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.819C>T	1.37:g.26355723C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26228310	NM_004455	Q6GSC1	Silent	SNP	ENST00000374280.3	37	CCDS271.1																																																																																				0.627	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455	
EXTL1	2134	broad.mit.edu	37	1	26357689	26357689	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26357689G>A	ENST00000374280.3	+	5	2035	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	390					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.A390T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCCAGGGGCACTCCTGGC	0.562																																					p.A390T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168A	1						.						90.0	90.0	90.0					1																	26357689		2203	4300	6503	26230276	SO:0001583	missense	2134	exon5			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1168G>A	1.37:g.26357689G>A	ENSP00000363398:p.Ala390Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26230276	NM_004455	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544201	0.86022	.	.	ENSG00000158008	ENST00000374280	D	0.95307	-3.67	4.7	2.78	0.32641	.	0.401233	0.23928	N	0.043170	D	0.94188	0.8135	M	0.64567	1.98	0.34315	D	0.685933	P	0.50066	0.931	P	0.52031	0.688	D	0.94134	0.7391	10	0.40728	T	0.16	-0.5387	10.3327	0.43831	0.0:0.1471:0.7002:0.1527	.	390	Q92935	EXTL1_HUMAN	T	390	ENSP00000363398:A390T	ENSP00000363398:A390T	A	+	1	0	EXTL1	26230276	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.456000	0.97628	0.566000	0.29273	0.561000	0.74099	GCA		0.562	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455	
EXTL1	2134	broad.mit.edu	37	1	26360334	26360334	+	Missense_Mutation	SNP	G	G	A	rs115796049		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26360334G>A	ENST00000374280.3	+	9	2533	c.1666G>A	c.(1666-1668)Gcc>Acc	p.A556T		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	556					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.A556T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACAGCCGCCTTCTACCA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17059	0.0		0.0	False		,,,				2504	0.0				p.A556T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1666A	1						.						65.0	66.0	66.0					1																	26360334		2203	4300	6503	26232921	SO:0001583	missense	2134	exon9			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1666G>A	1.37:g.26360334G>A	ENSP00000363398:p.Ala556Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26232921	NM_004455	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.3	4.269240	0.80469	.	.	ENSG00000158008	ENST00000374280	D	0.88431	-2.38	4.88	2.97	0.34412	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.067513	0.64402	N	0.000020	D	0.92485	0.7614	M	0.91249	3.19	0.53005	D	0.999962	D	0.59357	0.985	P	0.52159	0.691	D	0.91779	0.5434	10	0.87932	D	0	-13.0906	8.8344	0.35104	0.0805:0.0:0.7702:0.1493	.	556	Q92935	EXTL1_HUMAN	T	556	ENSP00000363398:A556T	ENSP00000363398:A556T	A	+	1	0	EXTL1	26232921	1.000000	0.71417	0.738000	0.30950	0.670000	0.39368	6.493000	0.73658	0.628000	0.30357	0.561000	0.74099	GCC		0.602	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455	
TRIM63	84676	broad.mit.edu	37	1	26384948	26384948	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26384948T>G	ENST00000374272.3	-	5	902	c.764A>C	c.(763-765)aAg>aCg	p.K255T	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	255					cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K255T(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGTGGACTTGTCCAGCTG	0.572																																					p.K255T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A764C	1						.						131.0	120.0	124.0					1																	26384948		2203	4300	6503	26257535	SO:0001583	missense	84676	exon5			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.764A>C	1.37:g.26384948T>G	ENSP00000363390:p.Lys255Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26257535	NM_032588	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	.	.	.	.	.	.	.	.	.	.	T	9.662	1.144518	0.21288	.	.	ENSG00000158022	ENST00000374272	T	0.42513	0.97	5.5	5.5	0.81552	.	0.202859	0.50627	D	0.000107	T	0.27205	0.0667	N	0.25144	0.715	0.30985	N	0.722051	B	0.12630	0.006	B	0.12837	0.008	T	0.21008	-1.0258	10	0.13853	T	0.58	.	11.301	0.49306	0.0:0.0:0.1523:0.8476	.	255	Q969Q1	TRI63_HUMAN	T	255	ENSP00000363390:K255T	ENSP00000363390:K255T	K	-	2	0	TRIM63	26257535	0.006000	0.16342	1.000000	0.80357	0.607000	0.37147	0.199000	0.17237	2.086000	0.62901	0.459000	0.35465	AAG		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588	
PDIK1L	149420	broad.mit.edu	37	1	26448658	26448658	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26448658G>T	ENST00000374271.4	+	4	903	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	PDIK1L_ENST00000374269.1_Nonsense_Mutation_p.E206*	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E206*(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCCAGAAGAACCTGTCAG	0.443																																					p.E206X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G616T	1						.						88.0	83.0	85.0					1																	26448658		2203	4300	6503	26321245	SO:0001587	stop_gained	149420	exon3			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.616G>T	1.37:g.26448658G>T	ENSP00000363389:p.Glu206*	Somatic		Capture	Illumina HiSeq	Phase_I	26321245	NM_152835	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Nonsense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408527	0.96051	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6767	19.6725	0.95915	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	.	E	+	1	0	PDIK1L	26321245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.750000	0.94351	0.655000	0.94253	GAA		0.443	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835	
PDIK1L	149420	broad.mit.edu	37	1	26448762	26448762	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:26448762C>A	ENST00000374271.4	+	4	1007	c.720C>A	c.(718-720)atC>atA	p.I240I	PDIK1L_ENST00000374269.1_Silent_p.I240I	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I240I(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCTGACATCTTTGCTCTGG	0.423																																					p.I240I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C720A	1						.						77.0	75.0	76.0					1																	26448762		2203	4300	6503	26321349	SO:0001819	synonymous_variant	149420	exon3			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.720C>A	1.37:g.26448762C>A		Somatic		Capture	Illumina HiSeq	Phase_I	26321349	NM_152835	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Silent	SNP	ENST00000374271.4	37	CCDS274.1																																																																																				0.423	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835	
ARID1A	8289	broad.mit.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATGGGGCGCATGTCCTA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.R1223C			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	3	Deletion - Frameshift(2)|Substitution - Missense(1)	ovary(2)|large_intestine(1)	c.C3667T	1						.						99.0	103.0	102.0					1																	27099430		2203	4300	6503	26972017	SO:0001583	missense	8289	exon14			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3667C>T	1.37:g.27099430C>T	ENSP00000320485:p.Arg1223Cys	Somatic		Capture	Illumina HiSeq	Phase_I	26972017	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.927453|2.927453	0.52759|0.52759	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.03553	.|4.04;3.89;3.89	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16128|0.16128	0.0388|0.0388	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.993;0.997;0.993	T|T	0.00007|0.00007	-1.2495|-1.2495	5|10	.|0.87932	.|D	.|0	-8.6821|-8.6821	14.1221|14.1221	0.65195|0.65195	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|840;1223;1223;876	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	V|C	119|1223;1223;840	.|ENSP00000320485:R1223C;ENSP00000387636:R1223C;ENSP00000363267:R840C	.|ENSP00000320485:R1223C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26972017|26972017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
ARID1A	8289	broad.mit.edu	37	1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1721*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.R1504X			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	3	Substitution - Nonsense(3)	ovary(1)|large_intestine(1)|endometrium(1)	c.C4510T	1						.						184.0	203.0	196.0					1																	27105550		2203	4300	6503	26978137	SO:0001587	stop_gained	8289	exon20			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5161C>T	1.37:g.27105550C>T	ENSP00000320485:p.Arg1721*	Somatic		Capture	Illumina HiSeq	Phase_I	26978137	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.126146|9.126146	0.99073|0.99073	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.060827	.|0.64402	.|D	.|0.000007	T|.	0.34745|.	0.0908|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15954|.	-1.0419|.	4|.	.|0.02654	.|T	.|1	-6.2012|-6.2012	13.2131|13.2131	0.59836|0.59836	0.159:0.841:0.0:0.0|0.159:0.841:0.0:0.0	.|.	.|.	.|.	.|.	L|X	617|1721;1504;1338;49	.|.	.|ENSP00000320485:R1721X	P|R	+|+	2|1	0|2	ARID1A|ARID1A	26978137|26978137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.413000|2.413000	0.44618|0.44618	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.443	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
PIGV	55650	broad.mit.edu	37	1	27121242	27121242	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:27121242C>T	ENST00000374145.1	+	3	1399	c.717C>T	c.(715-717)gcC>gcT	p.A239A	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Silent_p.A239A	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	239					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.A239A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCTGATGGCCTCTCTGTTTC	0.507																																					p.A239A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	1						.						133.0	137.0	135.0					1																	27121242		2203	4300	6503	26993829	SO:0001819	synonymous_variant	55650	exon3			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.717C>T	1.37:g.27121242C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26993829	NM_017837	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	CCDS287.1																																																																																				0.507	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837	
STX12	23673	broad.mit.edu	37	1	28146226	28146226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28146226C>T	ENST00000373943.4	+	8	840	c.715C>T	c.(715-717)Cga>Tga	p.R239*	RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	239	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.R239*(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTTACAGCGAGCTGCTTA	0.443																																					p.R239X	Ovarian(5;5 342 2097 9488 34083)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C715T	1						.						115.0	96.0	102.0					1																	28146226		2203	4300	6503	28018813	SO:0001587	stop_gained	23673	exon8			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.715C>T	1.37:g.28146226C>T	ENSP00000363054:p.Arg239*	Somatic		Capture	Illumina HiSeq	Phase_I	28018813	NM_177424	B1AJQ7|O95564	Nonsense_Mutation	SNP	ENST00000373943.4	37	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	36	5.797624	0.96952	.	.	ENSG00000117758	ENST00000373943	.	.	.	5.53	3.59	0.41128	.	0.048599	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.8457	9.3437	0.38096	0.454:0.4328:0.1132:0.0	.	.	.	.	X	239	.	ENSP00000363054:R239X	R	+	1	2	STX12	28018813	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.091000	0.41691	0.638000	0.30545	0.557000	0.71058	CGA		0.443	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424	
PTAFR	5724	broad.mit.edu	37	1	28476575	28476575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28476575C>T	ENST00000373857.3	-	2	1592	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	PTAFR_ENST00000305392.3_Missense_Mutation_p.A320T|PTAFR_ENST00000539896.1_Missense_Mutation_p.A320T	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	320					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.A320T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTGGTGGCCCGGGAGCAT	0.517																																					p.A320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	1						.						108.0	114.0	112.0					1																	28476575		2203	4300	6503	28349162	SO:0001583	missense	5724	exon3			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.958G>A	1.37:g.28476575C>T	ENSP00000362965:p.Ala320Thr	Somatic		Capture	Illumina HiSeq	Phase_I	28349162	NM_001164721	A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	6.235	0.411453	0.11812	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37411	1.2;1.2;1.2	5.38	3.51	0.40186	.	1.105750	0.06695	N	0.770313	T	0.19087	0.0458	N	0.08118	0	0.23969	N	0.996319	B	0.02656	0.0	B	0.04013	0.001	T	0.30060	-0.9991	10	0.14656	T	0.56	.	7.094	0.25299	0.0:0.5003:0.3442:0.1555	.	320	P25105	PTAFR_HUMAN	T	320	ENSP00000362965:A320T;ENSP00000442658:A320T;ENSP00000301974:A320T	ENSP00000301974:A320T	A	-	1	0	PTAFR	28349162	0.021000	0.18746	0.860000	0.33809	0.848000	0.48234	1.231000	0.32624	0.651000	0.30788	0.563000	0.77884	GCC		0.517	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952	
PTAFR	5724	broad.mit.edu	37	1	28476873	28476873	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28476873C>T	ENST00000373857.3	-	2	1294	c.660G>A	c.(658-660)caG>caA	p.Q220Q	PTAFR_ENST00000305392.3_Silent_p.Q220Q|PTAFR_ENST00000539896.1_Silent_p.Q220Q	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	220					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.Q220Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTGCGCTGCTGCTGCACCG	0.582																																					p.Q220Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660A	1						.						72.0	60.0	64.0					1																	28476873		2203	4300	6503	28349460	SO:0001819	synonymous_variant	5724	exon3			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.660G>A	1.37:g.28476873C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28349460	NM_001164721	A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	CCDS318.1																																																																																				0.582	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952	
DNAJC8	22826	broad.mit.edu	37	1	28527878	28527878	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28527878T>G	ENST00000263697.4	-	9	669	c.643A>C	c.(643-645)Agt>Cgt	p.S215R	DNAJC8_ENST00000489277.1_5'UTR|AL353354.1_ENST00000321830.5_5'Flank	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	215					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)		p.S215R(1)		kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCTCGACTTTCCTAAGTA	0.498																																					p.S215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643C	1						.						138.0	135.0	136.0					1																	28527878		1923	4135	6058	28400465	SO:0001583	missense	22826	exon9			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.643A>C	1.37:g.28527878T>G	ENSP00000263697:p.Ser215Arg	Somatic		Capture	Illumina HiSeq	Phase_I	28400465	NM_014280	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	t	18.73	3.685471	0.68157	.	.	ENSG00000126698	ENST00000263697	T	0.64438	-0.1	5.21	5.21	0.72293	.	0.182086	0.64402	D	0.000018	T	0.66597	0.2805	L	0.56769	1.78	0.80722	D	1	P	0.41848	0.763	P	0.46758	0.526	T	0.68961	-0.5271	10	0.51188	T	0.08	-13.3609	15.0825	0.72125	0.0:0.0:0.0:1.0	.	215	O75937	DNJC8_HUMAN	R	215	ENSP00000263697:S215R	ENSP00000263697:S215R	S	-	1	0	DNAJC8	28400465	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.655000	0.61476	1.966000	0.57179	0.445000	0.29226	AGT		0.498	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280	
PHACTR4	65979	broad.mit.edu	37	1	28792318	28792318	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28792318C>A	ENST00000373839.3	+	5	655	c.394C>A	c.(394-396)Ctt>Att	p.L132I	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.L142I	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	132					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.L142I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAGCAAGTCTTAGGAAAGC	0.438																																					p.L142I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424A	1						.						142.0	132.0	135.0					1																	28792318		1855	4101	5956	28664905	SO:0001583	missense	65979	exon4			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.394C>A	1.37:g.28792318C>A	ENSP00000362945:p.Leu132Ile	Somatic		Capture	Illumina HiSeq	Phase_I	28664905	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.673955	0.29693	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.38722	1.12;1.12	5.55	-1.5	0.08691	.	0.734065	0.12904	N	0.429578	T	0.29321	0.0730	L	0.34521	1.04	0.09310	N	1	B;B;B	0.22146	0.065;0.039;0.065	B;B;B	0.27170	0.077;0.035;0.048	T	0.26573	-1.0099	10	0.37606	T	0.19	-0.1494	8.8046	0.34929	0.0:0.4035:0.4534:0.1431	.	142;132;116	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	I	132;142;131	ENSP00000362945:L132I;ENSP00000362942:L142I	ENSP00000362942:L142I	L	+	1	0	PHACTR4	28664905	0.040000	0.19996	0.001000	0.08648	0.829000	0.46940	0.116000	0.15561	-0.249000	0.09569	0.655000	0.94253	CTT		0.438	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
RCC1	1104	broad.mit.edu	37	1	28864405	28864405	+	Silent	SNP	C	C	T	rs567395081		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:28864405C>T	ENST00000373833.6	+	13	1437	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	RCC1_ENST00000373832.1_Silent_p.D384D|RCC1_ENST00000398958.2_Silent_p.D384D|RCC1_ENST00000373831.3_Silent_p.D415D			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	384					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.D384D(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGAGGACGCCTGGAGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.001				p.D401D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1203T	1						.						73.0	72.0	73.0					1																	28864405		2203	4300	6503	28736992	SO:0001819	synonymous_variant	1104	exon11			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1152C>T	1.37:g.28864405C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28736992	NM_001048195	Q16269|Q6NT97	Silent	SNP	ENST00000373833.6	37	CCDS323.1																																																																																				0.567	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
YTHDF2	51441	broad.mit.edu	37	1	29070465	29070465	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:29070465G>T	ENST00000373812.3	+	4	2045	c.1683G>T	c.(1681-1683)gaG>gaT	p.E561D	YTHDF2_ENST00000541996.1_Missense_Mutation_p.E511D|YTHDF2_ENST00000542507.1_Missense_Mutation_p.E561D|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	561	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.E561D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CACACTATGAGAAACGCCAAG	0.403																																					p.E561D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1683T	1						.						26.0	26.0	26.0					1																	29070465		1823	3898	5721	28943052	SO:0001583	missense	51441	exon4			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1683G>T	1.37:g.29070465G>T	ENSP00000362918:p.Glu561Asp	Somatic		Capture	Illumina HiSeq	Phase_I	28943052	NM_016258	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094232	0.56075	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.35048	1.33;1.33;1.34	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.67700	2.07	0.80722	D	1	P;P	0.51653	0.887;0.947	P;D	0.64410	0.816;0.925	T	0.52764	-0.8532	9	.	.	.	-3.2987	19.029	0.92948	0.0:0.0:1.0:0.0	.	561;561	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	D	561;561;511;561	ENSP00000444660:E561D;ENSP00000362918:E561D;ENSP00000439394:E511D	.	E	+	3	2	YTHDF2	28943052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.764000	0.98949	2.793000	0.96121	0.643000	0.83706	GAG		0.403	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258	
SRSF4	6429	broad.mit.edu	37	1	29474998	29474998	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:29474998G>T	ENST00000373795.4	-	6	1643	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	SRSF4_ENST00000466448.1_5'Flank|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	470	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S470Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTTGGACCGAGATCGGGTTTT	0.512																																					p.S470Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1409A	1						.						157.0	153.0	155.0					1																	29474998		2203	4300	6503	29347585	SO:0001583	missense	6429	exon6			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1409C>A	1.37:g.29474998G>T	ENSP00000362900:p.Ser470Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29347585	NM_005626	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793962	0.50102	.	.	ENSG00000116350	ENST00000373795	T	0.39056	1.1	5.46	5.46	0.80206	.	0.878481	0.10175	N	0.706656	T	0.60689	0.2288	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.54636	-0.8264	10	0.66056	D	0.02	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	470	Q08170	SRSF4_HUMAN	Y	470	ENSP00000362900:S470Y	ENSP00000362900:S470Y	S	-	2	0	SRSF4	29347585	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	8.067000	0.89488	2.840000	0.97914	0.655000	0.94253	TCT		0.512	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626	
PTPRU	10076	broad.mit.edu	37	1	29652132	29652132	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:29652132G>A	ENST00000345512.3	+	31	4429	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	PTPRU_ENST00000323874.8_Missense_Mutation_p.D1430N|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1430N|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1428N|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1421N|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1424N	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1434	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1430N(2)|p.D1434N(2)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTTTGCTACGATGTGGCCCT	0.612																																					p.D1434N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G4300A	1						.						170.0	147.0	155.0					1																	29652132		2203	4300	6503	29524719	SO:0001583	missense	10076	exon31			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4300G>A	1.37:g.29652132G>A	ENSP00000334941:p.Asp1434Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29524719	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739262	0.89573	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.05	4.05	0.47172	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.148484	0.43416	U	0.000575	D	0.88775	0.6528	M	0.73319	2.225	0.52099	D	0.999947	D;D;D;D;D	0.67145	0.989;0.989;0.989;0.991;0.996	P;P;P;P;P	0.62184	0.784;0.784;0.784;0.863;0.899	D	0.89234	0.3579	9	.	.	.	.	15.4071	0.74887	0.0:0.0:1.0:0.0	.	1421;1428;1424;1430;1434	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	N	1434;1424;1430;1430;1421;1428	ENSP00000334941:D1434N;ENSP00000362884:D1424N;ENSP00000349333:D1430N;ENSP00000314987:D1430N;ENSP00000392332:D1421N;ENSP00000432906:D1428N	.	D	+	1	0	PTPRU	29524719	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.367000	0.73099	2.087000	0.62958	0.561000	0.74099	GAT		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
SDC3	9672	broad.mit.edu	37	1	31351475	31351475	+	Missense_Mutation	SNP	G	G	A	rs549486633		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:31351475G>A	ENST00000339394.6	-	2	425	c.251C>T	c.(250-252)tCg>tTg	p.S84L	SDC3_ENST00000336798.7_5'UTR|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S84L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACAGCCCGAGCCCGACCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18625	0.0		0.001	False		,,,				2504	0.0				p.S84L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	1						.						88.0	81.0	83.0					1																	31351475		2203	4300	6503	31124062	SO:0001583	missense	9672	exon2			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.251C>T	1.37:g.31351475G>A	ENSP00000344468:p.Ser84Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31124062	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664935	0.67700	.	.	ENSG00000162512	ENST00000339394	T	0.33216	1.42	5.01	5.01	0.66863	.	0.251943	0.27927	N	0.017296	T	0.45296	0.1335	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49707	-0.8911	10	0.87932	D	0	-12.5059	18.3315	0.90271	0.0:0.0:1.0:0.0	.	84	O75056	SDC3_HUMAN	L	84	ENSP00000344468:S84L	ENSP00000344468:S84L	S	-	2	0	SDC3	31124062	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	6.861000	0.75478	2.339000	0.79563	0.561000	0.74099	TCG		0.607	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654	
ZCCHC17	51538	broad.mit.edu	37	1	31782975	31782975	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:31782975A>C	ENST00000373714.1	+	2	291	c.30A>C	c.(28-30)gaA>gaC	p.E10D	ZCCHC17_ENST00000422613.2_Intron|ZCCHC17_ENST00000546109.1_5'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.E10D|ZCCHC17_ENST00000479629.1_3'UTR	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	10						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E10D(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AGACCATGGAAAACTTGCCTG	0.373																																					p.E10D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A30C	1						.						158.0	149.0	152.0					1																	31782975		2203	4300	6503	31555562	SO:0001583	missense	51538	exon2			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.30A>C	1.37:g.31782975A>C	ENSP00000362819:p.Glu10Asp	Somatic		Capture	Illumina HiSeq	Phase_I	31555562	NM_016505	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	6.940	0.543206	0.13250	.	.	ENSG00000121766	ENST00000344147;ENST00000373714	.	.	.	5.65	-1.24	0.09435	.	0.153420	0.56097	D	0.000021	T	0.23727	0.0574	N	0.10945	0.07	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02477	-1.1153	9	0.22109	T	0.4	.	4.3773	0.11277	0.5316:0.0:0.313:0.1554	.	10	Q9NP64	NO40_HUMAN	D	10	.	ENSP00000343557:E10D	E	+	3	2	ZCCHC17	31555562	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.289000	0.18957	-0.032000	0.13758	0.533000	0.62120	GAA		0.373	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505	
COL16A1	1307	broad.mit.edu	37	1	32163508	32163508	+	Splice_Site	SNP	G	G	A	rs375566518		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32163508G>A	ENST00000373672.3	-	6	1172	c.656C>T	c.(655-657)tCg>tTg	p.S219L	COL16A1_ENST00000271069.6_Splice_Site_p.S219L|COL16A1_ENST00000373668.3_Splice_Site_p.S219L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	219	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.S219L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGCACTCACCGAGACAGGCTT	0.597																																					p.S219L	Colon(143;498 1786 21362 25193 36625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656T	1						.	G	LEU/SER	0,3944		0,0,1972	54.0	57.0	56.0		656	2.2	0.9	1		56	1,8225		0,1,4112	no	missense-near-splice	COL16A1	NM_001856.3	145	0,1,6084	AA,AG,GG		0.0122,0.0,0.0082	benign	219/1605	32163508	1,12169	1972	4113	6085	31936095	SO:0001630	splice_region_variant	1307	exon6			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.657+1C>T	1.37:g.32163508G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31936095	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816537	0.32145	0.0	1.22E-4	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.71579	-0.58;-0.58;-0.58	5.14	2.21	0.28008	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.488964	0.20650	N	0.088235	T	0.39036	0.1063	N	0.03608	-0.345	0.19300	N	0.999979	B;B;B	0.30851	0.297;0.001;0.001	B;B;B	0.19666	0.026;0.001;0.002	T	0.22138	-1.0225	10	0.37606	T	0.19	.	5.5169	0.16912	0.2432:0.0:0.6143:0.1425	.	219;219;219	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	L	219	ENSP00000362776:S219L;ENSP00000271069:S219L;ENSP00000362772:S219L	ENSP00000271069:S219L	S	-	2	0	COL16A1	31936095	0.001000	0.12720	0.878000	0.34440	0.916000	0.54674	0.829000	0.27449	0.693000	0.31634	0.561000	0.74099	TCG		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Missense_Mutation
COL16A1	1307	broad.mit.edu	37	1	32163710	32163710	+	Missense_Mutation	SNP	C	C	T	rs572974202		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32163710C>T	ENST00000373672.3	-	6	970	c.454G>A	c.(454-456)Gac>Aac	p.D152N	COL16A1_ENST00000271069.6_Missense_Mutation_p.D152N|COL16A1_ENST00000373668.3_Missense_Mutation_p.D152N	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	152	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.D152N(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACACAAAGTCGCCATCCTGG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.0				p.D152N	Colon(143;498 1786 21362 25193 36625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	1						.						61.0	68.0	66.0					1																	32163710		2152	4248	6400	31936297	SO:0001583	missense	1307	exon6			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.454G>A	1.37:g.32163710C>T	ENSP00000362776:p.Asp152Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31936297	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267977	0.80469	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.71817	-0.6;-0.6;-0.6	4.9	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.119372	0.53938	D	0.000046	T	0.76673	0.4020	L	0.34521	1.04	0.41171	D	0.986165	D;P	0.89917	1.0;0.725	D;B	0.66351	0.943;0.102	T	0.79885	-0.1614	10	0.72032	D	0.01	.	17.2316	0.86985	0.0:1.0:0.0:0.0	.	152;152	A6NCT7;Q07092	.;COGA1_HUMAN	N	152	ENSP00000362776:D152N;ENSP00000271069:D152N;ENSP00000362772:D152N	ENSP00000271069:D152N	D	-	1	0	COL16A1	31936297	0.986000	0.35501	0.988000	0.46212	0.995000	0.86356	2.728000	0.47319	2.455000	0.83008	0.561000	0.74099	GAC		0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
SPOCD1	90853	broad.mit.edu	37	1	32280128	32280128	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32280128T>C	ENST00000360482.2	-	2	936	c.807A>G	c.(805-807)ggA>ggG	p.G269G	SPOCD1_ENST00000533231.1_Silent_p.G269G|SPOCD1_ENST00000373648.2_Silent_p.G269G|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	269					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.G269G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACCTGGCTCTCCAGGCCCAG	0.622																																					p.G269G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A807G	1						.						37.0	41.0	40.0					1																	32280128		2203	4300	6503	32052715	SO:0001819	synonymous_variant	90853	exon2			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.807A>G	1.37:g.32280128T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32052715	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	CCDS347.1																																																																																				0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
SPOCD1	90853	broad.mit.edu	37	1	32280314	32280314	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32280314C>A	ENST00000360482.2	-	2	750	c.621G>T	c.(619-621)aaG>aaT	p.K207N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.K207N|SPOCD1_ENST00000373648.2_Missense_Mutation_p.K207N|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	207					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.K207N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCTCCATTTCTTTCTTACCC	0.587																																					p.K207N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G621T	1						.						107.0	103.0	104.0					1																	32280314		2203	4300	6503	32052901	SO:0001583	missense	90853	exon2			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.621G>T	1.37:g.32280314C>A	ENSP00000353670:p.Lys207Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32052901	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177980	0.21787	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.39056	1.53;1.1;1.54	3.75	1.85	0.25348	.	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.09310	N	1	B;B	0.27882	0.192;0.121	B;B	0.23018	0.043;0.019	T	0.17107	-1.0380	9	0.87932	D	0	-1.8793	5.2058	0.15289	0.0:0.6742:0.2107:0.1151	.	207;207	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	207	ENSP00000353670:K207N;ENSP00000362752:K207N;ENSP00000435851:K207N	ENSP00000353670:K207N	K	-	3	2	SPOCD1	32052901	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	0.540000	0.23191	0.546000	0.28920	-0.235000	0.12190	AAG		0.587	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
SPOCD1	90853	broad.mit.edu	37	1	32280924	32280924	+	Missense_Mutation	SNP	G	G	A	rs565251096		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32280924G>A	ENST00000360482.2	-	2	140	c.11C>T	c.(10-12)gCg>gTg	p.A4V	SPOCD1_ENST00000533231.1_Missense_Mutation_p.A4V|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A4V|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	4					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.A4V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TACGTCCCCCGCCTGGGACAT	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		19280	0.001		0.0	False		,,,				2504	0.0				p.A4V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11T	1						.						32.0	34.0	33.0					1																	32280924		2202	4295	6497	32053511	SO:0001583	missense	90853	exon2			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.11C>T	1.37:g.32280924G>A	ENSP00000353670:p.Ala4Val	Somatic		Capture	Illumina HiSeq	Phase_I	32053511	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	g	14.72	2.621069	0.46736	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.33654	1.85;1.4;1.85	3.78	-3.71	0.04424	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.024	B;B	0.13407	0.009;0.004	T	0.18461	-1.0336	9	0.51188	T	0.08	0.2653	5.0442	0.14475	0.2545:0.0:0.3175:0.4279	.	4;4	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	V	4	ENSP00000353670:A4V;ENSP00000362752:A4V;ENSP00000435851:A4V	ENSP00000353670:A4V	A	-	2	0	SPOCD1	32053511	0.009000	0.17119	0.001000	0.08648	0.007000	0.05969	-0.289000	0.08365	-0.720000	0.04935	-1.104000	0.02111	GCG		0.577	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
TRIM62	55223	broad.mit.edu	37	1	33625383	33625383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:33625383G>A	ENST00000291416.5	-	3	900	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TRIM62_ENST00000543586.1_Missense_Mutation_p.R102C|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	223					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R223C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TGGACCTTGCGCAGCTGCTGG	0.657																																					p.R223C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	1						.						62.0	63.0	63.0					1																	33625383		2203	4300	6503	33397970	SO:0001583	missense	55223	exon3			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.667C>T	1.37:g.33625383G>A	ENSP00000291416:p.Arg223Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33397970	NM_018207	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610856	0.87258	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.45668	0.89;0.89	4.5	3.57	0.40892	.	0.200237	0.43416	D	0.000562	T	0.40932	0.1137	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.35724	-0.9777	10	0.59425	D	0.04	.	12.1977	0.54307	0.0:0.0:0.8273:0.1727	.	223	Q9BVG3	TRI62_HUMAN	C	223;223;223;102	ENSP00000291416:R223C;ENSP00000441173:R102C	ENSP00000291416:R223C	R	-	1	0	TRIM62	33397970	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.862000	0.75484	1.173000	0.42796	0.655000	0.94253	CGC		0.657	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207	
ZSCAN20	7579	broad.mit.edu	37	1	33960902	33960902	+	Silent	SNP	G	G	A	rs368464726		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:33960902G>A	ENST00000361328.3	+	8	3111	c.2958G>A	c.(2956-2958)ccG>ccA	p.P986P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	986					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P986P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCGTATAAGTGCA	0.468																																					p.P986P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2958A	1						.	G		1,4237		0,1,2118	63.0	70.0	68.0		2958	-6.2	0.9	1		68	0,8528		0,0,4264	no	coding-synonymous	ZSCAN20	NM_145238.3		0,1,6382	AA,AG,GG		0.0,0.0236,0.0078		986/1044	33960902	1,12765	2119	4264	6383	33733489	SO:0001819	synonymous_variant	7579	exon8			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2958G>A	1.37:g.33960902G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33733489	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	CCDS41300.1																																																																																				0.468	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
CSMD2	114784	broad.mit.edu	37	1	33987079	33987079	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:33987079G>A	ENST00000373381.4	-	68	10757	c.10581C>T	c.(10579-10581)ttC>ttT	p.F3527F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3383						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F3383F(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTGAAAGCCGAACTGCCCAA	0.602																																					p.F3383F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10149T	1						.						94.0	88.0	90.0					1																	33987079		2203	4300	6503	33759666	SO:0001819	synonymous_variant	114784	exon67			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10581C>T	1.37:g.33987079G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33759666	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34046429	34046429	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:34046429G>T	ENST00000373381.4	-	48	7487	c.7311C>A	c.(7309-7311)agC>agA	p.S2437R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2439	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2439R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTTGCTTGAGCTGGTGACAA	0.502																																					p.S2439R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7317A	1						.						111.0	96.0	101.0					1																	34046429		2203	4300	6503	33819016	SO:0001583	missense	114784	exon49			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7311C>A	1.37:g.34046429G>T	ENSP00000362479:p.Ser2437Arg	Somatic		Capture	Illumina HiSeq	Phase_I	33819016	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.619081	0.87460	.	.	ENSG00000121904	ENST00000373381	T	0.50813	0.73	5.9	4.98	0.66077	CUB (5);	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83140	-0.0109	10	0.26408	T	0.33	.	13.5735	0.61860	0.0738:0.0:0.9261:0.0	.	2439;2437	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	2437	ENSP00000362479:S2437R	ENSP00000241312:S2439R	S	-	3	2	CSMD2	33819016	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	4.882000	0.63121	2.793000	0.96121	0.563000	0.77884	AGC		0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34080145	34080145	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:34080145T>C	ENST00000373380.1	-	19	2931	c.2711A>G	c.(2710-2712)aAc>aGc	p.N904S	CSMD2_ENST00000373388.2_Missense_Mutation_p.N130S|CSMD2_ENST00000373377.1_Missense_Mutation_p.N130S|CSMD2_ENST00000373381.4_Missense_Mutation_p.N2031S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1991	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1991S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGTCCATGTTACTGGGGTA	0.567																																					p.N1991S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5972G	1						.						94.0	86.0	88.0					1																	34080145		2203	4300	6503	33852732	SO:0001583	missense	114784	exon40			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2711A>G	1.37:g.34080145T>C	ENSP00000362478:p.Asn904Ser	Somatic		Capture	Illumina HiSeq	Phase_I	33852732	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	T	19.28	3.798032	0.70567	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.47	4.33	0.51752	CUB (5);	0.109568	0.64402	D	0.000011	T	0.32346	0.0826	L	0.41710	1.295	0.50467	D	0.999878	B;B;D	0.55605	0.037;0.081;0.972	B;B;P	0.55303	0.042;0.126;0.773	T	0.15896	-1.0421	10	0.02654	T	1	.	11.8231	0.52250	0.0:0.0:0.1469:0.8531	.	904;1991;2031	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	S	2031;904;130;130	ENSP00000362479:N2031S;ENSP00000362478:N904S;ENSP00000362475:N130S;ENSP00000362486:N130S	ENSP00000241312:N1991S	N	-	2	0	CSMD2	33852732	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.296000	0.72751	0.888000	0.36160	0.533000	0.62120	AAC		0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34112312	34112312	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:34112312G>A	ENST00000373380.1	-	8	1549	c.1329C>T	c.(1327-1329)agC>agT	p.S443S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.S1570S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1530	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1530S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGAGGAAGAGGCTGTTGCTGC	0.562																																					p.S1530S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4590T	1						.						81.0	77.0	78.0					1																	34112312		2203	4300	6503	33884899	SO:0001819	synonymous_variant	114784	exon29			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1329C>T	1.37:g.34112312G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33884899	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34208883	34208883	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:34208883G>A	ENST00000373381.4	-	14	2347	c.2171C>T	c.(2170-2172)aCc>aTc	p.T724I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	684	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T684I(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGACTCACTGGTAAAAGTGAT	0.582																																					p.T684I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2051T	1						.						47.0	38.0	41.0					1																	34208883		2203	4300	6503	33981470	SO:0001583	missense	114784	exon14			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2171C>T	1.37:g.34208883G>A	ENSP00000362479:p.Thr724Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33981470	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000217	0.93227	.	.	ENSG00000121904	ENST00000373381	T	0.36699	1.24	5.69	5.69	0.88448	CUB (4);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.64676	1.99	0.80722	D	1	D;D	0.71674	0.991;0.998	D;D	0.77004	0.957;0.989	T	0.57676	-0.7770	10	0.56958	D	0.05	.	19.1688	0.93569	0.0:0.0:1.0:0.0	.	684;724	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	724	ENSP00000362479:T724I	ENSP00000241312:T684I	T	-	2	0	CSMD2	33981470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.892000	0.87324	2.840000	0.97914	0.655000	0.94253	ACC		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
C1orf94	84970	broad.mit.edu	37	1	34666589	34666589	+	Missense_Mutation	SNP	C	C	T	rs114118360		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:34666589C>T	ENST00000488417.1	+	3	1346	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P219L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	409								p.P219L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGCGGGCAGCCGAGACTTCGA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17540	0.0		0.0	False		,,,				2504	0.0				p.P219L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656T	1						.	C	LEU/PRO,LEU/PRO	4,4400	6.2+/-15.9	0,4,2198	36.0	35.0	35.0		1226,656	3.0	1.0	1	dbSNP_132	35	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense	C1orf94	NM_001134734.1,NM_032884.3	98,98	0,12,6490	TT,TC,CC		0.093,0.0908,0.0923	benign,benign	409/599,219/409	34666589	12,12992	2202	4300	6502	34439176	SO:0001583	missense	84970	exon3			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1226C>T	1.37:g.34666589C>T	ENSP00000435634:p.Pro409Leu	Somatic		Capture	Illumina HiSeq	Phase_I	34439176	NM_032884	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.007	-1.981732	0.00448	9.08E-4	9.3E-4	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.15487	2.42;2.42	5.52	3.05	0.35203	.	0.330102	0.21939	N	0.066920	T	0.02418	0.0074	N	0.00075	-2.25	0.32968	D	0.521898	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	10	0.02654	T	1	-16.3316	7.2996	0.26413	0.0:0.1768:0.0:0.8232	.	409	Q6P1W5	CA094_HUMAN	L	219;409	ENSP00000362472:P219L;ENSP00000435634:P409L	ENSP00000362472:P219L	P	+	2	0	C1orf94	34439176	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	1.693000	0.37742	0.376000	0.24707	-1.202000	0.01658	CCG		0.582	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
DLGAP3	58512	broad.mit.edu	37	1	35365760	35365760	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35365760C>A	ENST00000373347.1	-	4	1490	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D408Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	408					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.D408Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGTCTGAGTCTCCGCTCTCC	0.642																																					p.D408Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222T	1						.						123.0	114.0	117.0					1																	35365760		2203	4300	6503	35138347	SO:0001583	missense	58512	exon2			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1222G>T	1.37:g.35365760C>A	ENSP00000362444:p.Asp408Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	35138347	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603329	0.87157	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.20598	2.06;2.06	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.55661	-0.8106	10	0.87932	D	0	-15.6394	17.2399	0.87010	0.0:1.0:0.0:0.0	.	408	O95886	DLGP3_HUMAN	Y	408;408;91	ENSP00000362444:D408Y;ENSP00000235180:D408Y	ENSP00000235180:D408Y	D	-	1	0	DLGAP3	35138347	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.540000	0.82074	2.296000	0.77279	0.313000	0.20887	GAC		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
DLGAP3	58512	broad.mit.edu	37	1	35370319	35370319	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35370319G>T	ENST00000373347.1	-	3	934	c.666C>A	c.(664-666)tcC>tcA	p.S222S	DLGAP3_ENST00000235180.4_Silent_p.S222S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	222					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S222S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ggtggtgatggGAGGTGTGGG	0.672																																					p.S222S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666A	1						.						56.0	53.0	54.0					1																	35370319		2203	4300	6503	35142906	SO:0001819	synonymous_variant	58512	exon1			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.666C>A	1.37:g.35370319G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35142906	NM_001080418	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	CCDS30670.1																																																																																				0.672	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
ZMYM1	79830	broad.mit.edu	37	1	35579468	35579468	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35579468C>A	ENST00000373330.1	+	11	2211	c.2037C>A	c.(2035-2037)ttC>ttA	p.F679L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.F679L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	679						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.F679L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGAAAGATTCTTGGGTTTTG	0.353																																					p.F679L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2037A	1						.						75.0	71.0	72.0					1																	35579468		1853	4092	5945	35352055	SO:0001583	missense	79830	exon10			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2037C>A	1.37:g.35579468C>A	ENSP00000362427:p.Phe679Leu	Somatic		Capture	Illumina HiSeq	Phase_I	35352055	NM_024772	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914840	0.17907	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.22134	1.97;1.97;1.97	4.63	-3.42	0.04825	Ribonuclease H-like (1);	0.119834	0.38492	N	0.001671	T	0.36580	0.0972	M	0.81179	2.53	0.09310	N	0.999995	D;D	0.71674	0.992;0.998	D;D	0.76071	0.987;0.95	T	0.14615	-1.0466	9	.	.	.	-19.0482	4.6863	0.12758	0.2573:0.2454:0.0:0.4973	.	660;679	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	L	679;604;679	ENSP00000352920:F679L;ENSP00000362426:F604L;ENSP00000362427:F679L	.	F	+	3	2	ZMYM1	35352055	0.991000	0.36638	0.007000	0.13788	0.001000	0.01503	0.012000	0.13287	-0.663000	0.05331	-0.175000	0.13238	TTC		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
ZMYM1	79830	broad.mit.edu	37	1	35579880	35579880	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35579880C>T	ENST00000373330.1	+	11	2623	c.2449C>T	c.(2449-2451)Cta>Tta	p.L817L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.L817L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	817						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L817L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCGTACATTACTATCTGTGAT	0.343																																					p.L817L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2449T	1						.						100.0	89.0	93.0					1																	35579880		1876	4119	5995	35352467	SO:0001819	synonymous_variant	79830	exon10			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2449C>T	1.37:g.35579880C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35352467	NM_024772	D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
SFPQ	6421	broad.mit.edu	37	1	35652648	35652648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35652648C>T	ENST00000357214.5	-	9	2038	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	647					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G647D(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGTGGAACGCCAGGATTAGC	0.448			T	TFE3	papillary renal cell																																p.G647D			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1940A	1						.						111.0	104.0	106.0					1																	35652648		2203	4300	6503	35425235	SO:0001583	missense	6421	exon9			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1940G>A	1.37:g.35652648C>T	ENSP00000349748:p.Gly647Asp	Somatic		Capture	Illumina HiSeq	Phase_I	35425235	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442018	0.83993	.	.	ENSG00000116560	ENST00000357214	T	0.27256	1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48422	-0.9037	10	0.54805	T	0.06	-20.5441	19.1781	0.93611	0.0:1.0:0.0:0.0	.	647	P23246	SFPQ_HUMAN	D	647	ENSP00000349748:G647D	ENSP00000349748:G647D	G	-	2	0	SFPQ	35425235	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.191000	0.72063	2.517000	0.84864	0.655000	0.94253	GGC		0.448	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
SFPQ	6421	broad.mit.edu	37	1	35652836	35652836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35652836C>T	ENST00000357214.5	-	8	1930	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	611					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R611Q(2)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCCACCCATTCGCATGTCTCT	0.383			T	TFE3	papillary renal cell																																p.R611Q			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1832A	1						.						128.0	130.0	129.0					1																	35652836		2203	4300	6503	35425423	SO:0001583	missense	6421	exon8			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1832G>A	1.37:g.35652836C>T	ENSP00000349748:p.Arg611Gln	Somatic		Capture	Illumina HiSeq	Phase_I	35425423	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950150	0.92660	.	.	ENSG00000116560	ENST00000357214	T	0.28454	1.61	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54180	-0.8332	10	0.62326	D	0.03	-17.5112	20.5662	0.99343	0.0:1.0:0.0:0.0	.	611	P23246	SFPQ_HUMAN	Q	611	ENSP00000349748:R611Q	ENSP00000349748:R611Q	R	-	2	0	SFPQ	35425423	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.874000	0.63064	2.868000	0.98415	0.603000	0.83216	CGA		0.383	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
KIAA0319L	79932	broad.mit.edu	37	1	35936556	35936556	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35936556T>G	ENST00000325722.3	-	6	1255	c.1021A>C	c.(1021-1023)Acc>Ccc	p.T341P	KIAA0319L_ENST00000485551.1_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	341	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T341P(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGGTGTAGGTTTCTCCTATA	0.423																																					p.T341P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1021C	1						.						127.0	118.0	121.0					1																	35936556		2203	4300	6503	35709143	SO:0001583	missense	79932	exon6			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1021A>C	1.37:g.35936556T>G	ENSP00000318406:p.Thr341Pro	Somatic		Capture	Illumina HiSeq	Phase_I	35709143	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.81|16.81	3.226253|3.226253	0.58668|0.58668	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000431916|ENST00000325722;ENST00000426982;ENST00000440579	.|T;T;T	.|0.12984	.|3.2;3.17;2.63	6.17|6.17	5.05|5.05	0.67936|0.67936	.|PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);	.|0.174170	.|0.49916	.|D	.|0.000136	T|T	0.12646|0.12646	0.0307|0.0307	N|N	0.25890|0.25890	0.77|0.77	0.80722|0.80722	D|D	1|1	.|P;B	.|0.44281	.|0.831;0.002	.|P;B	.|0.46076	.|0.503;0.013	T|T	0.15954|0.15954	-1.0419|-1.0419	5|10	.|0.21014	.|T	.|0.42	-4.5634|-4.5634	11.3307|11.3307	0.49475|0.49475	0.0:0.0709:0.0:0.9291|0.0:0.0709:0.0:0.9291	.|.	.|341;341	.|B1AN14;Q8IZA0	.|.;K319L_HUMAN	T|P	170|341	.|ENSP00000318406:T341P;ENSP00000395883:T341P;ENSP00000407576:T341P	.|ENSP00000318406:T341P	N|T	-|-	2|1	0|0	KIAA0319L|KIAA0319L	35709143|35709143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.108000|3.108000	0.50337|0.50337	1.158000|1.158000	0.42547|0.42547	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.423	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
TFAP2E	339488	broad.mit.edu	37	1	36056263	36056263	+	Silent	SNP	C	C	T	rs140768899	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36056263C>T	ENST00000373235.3	+	6	1141	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)									p.F303F(1)		endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCGAGACTTCGGTTACGTCT	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		21244	0.0		0.002	False		,,,				2504	0.0				p.F311F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	59.0	48.0	52.0		933	-5.2	0.9	1	dbSNP_134	52	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	TFAP2E	NM_178548.3		0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153		311/443	36056263	15,12991	2203	4300	6503	35828850	SO:0001819	synonymous_variant	339488	exon6			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.933C>T	1.37:g.36056263C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35828850	NM_178548		Silent	SNP	ENST00000373235.3	37	CCDS393.2																																																																																				0.642	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548	
AGO1	26523	broad.mit.edu	37	1	36358783	36358783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36358783G>A	ENST00000373204.4	+	4	629	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	AGO1_ENST00000373206.1_Missense_Mutation_p.R64Q	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	139					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R139Q(2)									GTGAGCTGGCGAATGCTGCAT	0.557																																					p.R139Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G416A	1						.						107.0	94.0	99.0					1																	36358783		2203	4300	6503	36131370	SO:0001583	missense	26523	exon4			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.416G>A	1.37:g.36358783G>A	ENSP00000362300:p.Arg139Gln	Somatic		Capture	Illumina HiSeq	Phase_I	36131370	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442479	0.25987	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.09445	3.0;2.98	5.63	5.63	0.86233	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.04770	0.0129	N	0.01134	-0.995	0.54753	D	0.999983	B	0.10296	0.003	B	0.06405	0.002	T	0.50874	-0.8776	10	0.21540	T	0.41	-13.2524	19.6727	0.95916	0.0:0.0:1.0:0.0	.	139	Q9UL18	AGO1_HUMAN	Q	64;139	ENSP00000362302:R64Q;ENSP00000362300:R139Q	ENSP00000362300:R139Q	R	+	2	0	EIF2C1	36131370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.820000	0.69250	2.656000	0.90262	0.591000	0.81541	CGA		0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
TRAPPC3	27095	broad.mit.edu	37	1	36605758	36605758	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36605758G>A	ENST00000373166.3	-	2	142	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	TRAPPC3_ENST00000373159.1_Missense_Mutation_p.L18F|TRAPPC3_ENST00000373162.1_5'UTR|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373163.1_5'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	18					ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)		p.L18F(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AGGGTGAAGAGCTCAGAGCTC	0.473																																					p.L18F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C52T	1						.						63.0	57.0	59.0					1																	36605758		2203	4300	6503	36378345	SO:0001583	missense	27095	exon2			AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.52C>T	1.37:g.36605758G>A	ENSP00000362261:p.Leu18Phe	Somatic		Capture	Illumina HiSeq	Phase_I	36378345	NM_014408	A6NDN0|B2RDN2|D3DPS2	Missense_Mutation	SNP	ENST00000373166.3	37	CCDS404.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441953	0.83993	.	.	ENSG00000054116	ENST00000373166;ENST00000373159	T;T	0.49432	0.78;0.78	5.83	5.83	0.93111	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.76838	2.35	0.80722	D	1	P	0.42785	0.79	P	0.47573	0.55	T	0.61598	-0.7030	10	0.45353	T	0.12	-2.264	19.1256	0.93382	0.0:0.0:1.0:0.0	.	18	O43617	TPPC3_HUMAN	F	18	ENSP00000362261:L18F;ENSP00000362253:L18F	ENSP00000362253:L18F	L	-	1	0	TRAPPC3	36378345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.642000	0.74329	2.763000	0.94921	0.563000	0.77884	CTC		0.473	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020384.1	NM_014408	
THRAP3	9967	broad.mit.edu	37	1	36755144	36755144	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36755144C>T	ENST00000354618.5	+	5	1748	c.1524C>T	c.(1522-1524)agC>agT	p.S508S	THRAP3_ENST00000469141.2_Silent_p.S508S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	508	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S508S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAAGAGAAGCGAAGGTGGGC	0.502			T	USP6	aneurysmal bone cysts																																p.S508S	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	1						.						89.0	100.0	96.0					1																	36755144		2203	4300	6503	36527731	SO:0001819	synonymous_variant	9967	exon5			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1524C>T	1.37:g.36755144C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36527731	NM_005119	D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	CCDS405.1																																																																																				0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
SH3D21	79729	broad.mit.edu	37	1	36785450	36785450	+	Missense_Mutation	SNP	G	G	T	rs146797338		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36785450G>T	ENST00000426732.2	+	13	1123	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	SH3D21_ENST00000453908.2_Missense_Mutation_p.A396S|SH3D21_ENST00000505871.1_Missense_Mutation_p.A285S|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.A42S			A4FU49	SH321_HUMAN	SH3 domain containing 21	280						extracellular vesicular exosome (GO:0070062)		p.A42S(1)|p.A396S(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGGGGACAAGGCCTCTATCCC	0.607																																					p.A285S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G853T	1						.						56.0	65.0	62.0					1																	36785450		2203	4300	6503	36558037	SO:0001583	missense	79729	exon11			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.838G>T	1.37:g.36785450G>T	ENSP00000408613:p.Ala280Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36558037	NM_024676	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37		.	.	.	.	.	.	.	.	.	.	G	5.174	0.217693	0.09810	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.44083	1.22;1.68;0.93;1.69	1.95	0.99	0.19807	.	972.722000	0.00357	N	0.000028	T	0.33118	0.0852	L	0.34521	1.04	0.09310	N	1	B;B	0.20459	0.045;0.027	B;B	0.18871	0.023;0.01	T	0.12167	-1.0558	9	.	.	.	.	6.3264	0.21246	0.0:0.0:0.4701:0.5298	.	285;280	A4FU49-3;A4FU49	.;SH321_HUMAN	S	396;280;42;285	ENSP00000403476:A396S;ENSP00000408613:A280S;ENSP00000321936:A42S;ENSP00000421294:A285S	.	A	+	1	0	SH3D21	36558037	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.326000	0.07965	0.339000	0.23719	0.514000	0.50259	GCC		0.607	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676	
SH3D21	79729	broad.mit.edu	37	1	36785773	36785773	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36785773C>A	ENST00000426732.2	+	13	1446	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L	SH3D21_ENST00000453908.2_Missense_Mutation_p.F503L|SH3D21_ENST00000505871.1_Missense_Mutation_p.F392L|SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.F149L			A4FU49	SH321_HUMAN	SH3 domain containing 21	387						extracellular vesicular exosome (GO:0070062)		p.F149L(1)|p.F503L(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						ACATTCAATTCCATCACTTCT	0.547																																					p.F392L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1176A	1						.						52.0	55.0	54.0					1																	36785773		2203	4299	6502	36558360	SO:0001583	missense	79729	exon11			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1161C>A	1.37:g.36785773C>A	ENSP00000408613:p.Phe387Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36558360	NM_024676	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37		.	.	.	.	.	.	.	.	.	.	C	8.963	0.971167	0.18659	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.40756	1.55;1.92;1.02;1.92	3.83	-2.36	0.06663	.	9.155060	0.00166	N	0.000003	T	0.26085	0.0636	N	0.17474	0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17198	-1.0377	10	0.11485	T	0.65	.	9.4028	0.38442	0.1727:0.2506:0.5768:0.0	.	392;387	A4FU49-3;A4FU49	.;SH321_HUMAN	L	503;387;149;392	ENSP00000403476:F503L;ENSP00000408613:F387L;ENSP00000321936:F149L;ENSP00000421294:F392L	ENSP00000321936:F149L	F	+	3	2	SH3D21	36558360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.122000	0.03267	-0.422000	0.07405	-0.300000	0.09419	TTC		0.547	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676	
CSF3R	1441	broad.mit.edu	37	1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	rs150616658		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36938264G>A	ENST00000373106.1	-	7	1244	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CSF3R_ENST00000418048.2_Missense_Mutation_p.R233W|CSF3R_ENST00000440588.2_Missense_Mutation_p.R233W|CSF3R_ENST00000361632.4_Missense_Mutation_p.R233W|CSF3R_ENST00000373103.1_Missense_Mutation_p.R233W|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.R233W|CSF3R_ENST00000338937.5_Missense_Mutation_p.R233W|CSF3R_ENST00000373104.1_Missense_Mutation_p.R233W	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	233	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R233W(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCATGGTCCGCAGCATGGGG	0.627																																					p.R233W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C697T	1						.	G	TRP/ARG,TRP/ARG,TRP/ARG	1,4363		0,1,2181	11.0	12.0	12.0		697,697,697	-2.4	0.3	1	dbSNP_134	12	0,8546		0,0,4273	no	missense,missense,missense	CSF3R	NM_000760.3,NM_156039.3,NM_172313.2	101,101,101	0,1,6454	AA,AG,GG		0.0,0.0229,0.0077	benign,benign,benign	233/837,233/864,233/784	36938264	1,12909	2182	4273	6455	36710851	SO:0001583	missense	1441	exon7			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.697C>T	1.37:g.36938264G>A	ENSP00000362198:p.Arg233Trp	Somatic		Capture	Illumina HiSeq	Phase_I	36710851	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.477964	0.12521	2.29E-4	0.0	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.6	-2.38	0.06622	Fibronectin, type III (1);Immunoglobulin-like fold (1);	6.027910	0.01642	N	0.024086	T	0.24890	0.0604	N	0.02802	-0.49	0.09310	N	0.99999	B;B;B;B	0.21147	0.052;0.008;0.01;0.005	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.09552	-1.0669	10	0.37606	T	0.19	0.3242	2.467	0.04555	0.1744:0.2883:0.3953:0.142	.	233;233;233;233	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	W	233	ENSP00000362198:R233W;ENSP00000362196:R233W;ENSP00000362195:R233W;ENSP00000355406:R233W;ENSP00000332180:R233W;ENSP00000401588:R233W;ENSP00000345013:R233W;ENSP00000397568:R233W	ENSP00000332180:R233W	R	-	1	2	CSF3R	36710851	0.000000	0.05858	0.300000	0.25030	0.032000	0.12392	-0.365000	0.07573	-0.315000	0.08703	-0.345000	0.07892	CGG		0.627	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
CSF3R	1441	broad.mit.edu	37	1	36939086	36939086	+	Missense_Mutation	SNP	G	G	A	rs372288734		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36939086G>A	ENST00000373106.1	-	6	1170	c.623C>T	c.(622-624)gCg>gTg	p.A208V	CSF3R_ENST00000418048.2_Missense_Mutation_p.A208V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A208V|CSF3R_ENST00000361632.4_Missense_Mutation_p.A208V|CSF3R_ENST00000373103.1_Missense_Mutation_p.A208V|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.A208V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A208V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A208V	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	208	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A208V(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTCCCCAGCGCATTCTCTGC	0.592																																					p.A208V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C623T	1						.	G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	94.0	99.0		623,623,623	-0.9	0.0	1		99	0,8600		0,0,4300	no	missense,missense,missense	CSF3R	NM_172313.2,NM_156039.3,NM_000760.3	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	208/784,208/864,208/837	36939086	1,13005	2203	4300	6503	36711673	SO:0001583	missense	1441	exon6			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.623C>T	1.37:g.36939086G>A	ENSP00000362198:p.Ala208Val	Somatic		Capture	Illumina HiSeq	Phase_I	36711673	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	7.219	0.596916	0.13875	2.27E-4	0.0	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.51	-0.905	0.10527	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.633297	0.16741	N	0.201448	T	0.21427	0.0516	L	0.45051	1.395	0.09310	N	1	B;B;B;B	0.27791	0.189;0.032;0.019;0.04	B;B;B;B	0.08055	0.003;0.002;0.001;0.003	T	0.10590	-1.0623	10	0.29301	T	0.29	-1.1765	4.8993	0.13766	0.4367:0.0:0.4206:0.1427	.	208;208;208;208	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	V	208	ENSP00000362198:A208V;ENSP00000362196:A208V;ENSP00000362195:A208V;ENSP00000355406:A208V;ENSP00000332180:A208V;ENSP00000401588:A208V;ENSP00000345013:A208V;ENSP00000397568:A208V	ENSP00000332180:A208V	A	-	2	0	CSF3R	36711673	0.000000	0.05858	0.016000	0.15963	0.944000	0.59088	0.687000	0.25407	-0.035000	0.13691	0.603000	0.83216	GCG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
MEAF6	64769	broad.mit.edu	37	1	37967422	37967422	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:37967422C>A	ENST00000296214.5	-	5	543	c.516G>T	c.(514-516)aaG>aaT	p.K172N	MEAF6_ENST00000373075.2_Missense_Mutation_p.K172N|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Missense_Mutation_p.K150N|MEAF6_ENST00000448519.2_Missense_Mutation_p.K172N|MIR5581_ENST00000580821.1_RNA|MEAF6_ENST00000373073.4_Missense_Mutation_p.K172N	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	172					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K172N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GGTTTTTATTCTTTCGCTTTT	0.502																																					p.K172N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G516T	1						.						115.0	136.0	129.0					1																	37967422		2203	4300	6503	37740009	SO:0001583	missense	64769	exon5			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.516G>T	1.37:g.37967422C>A	ENSP00000296214:p.Lys172Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37740009	NM_022756	B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	ENST00000296214.5	37	CCDS59196.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757243	0.89843	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.61080	0.989;0.981;0.989;0.981	D;D;D;D	0.75020	0.985;0.966;0.985;0.95	T	0.69273	-0.5188	9	0.66056	D	0.02	4.7469	19.9433	0.97172	0.0:1.0:0.0:0.0	.	172;172;172;150	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	N	172;172;150;172;172	.	ENSP00000296214:K172N	K	-	3	2	MEAF6	37740009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.700000	0.68318	2.716000	0.92895	0.655000	0.94253	AAG		0.502	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756	
SNIP1	79753	broad.mit.edu	37	1	38019787	38019787	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38019787C>A	ENST00000296215.6	-	1	116	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SNIP1_ENST00000468040.1_Intron|DNALI1_ENST00000296218.7_5'Flank|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	15					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R15I(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCGGTGTCTTCGCCGGCT	0.647																																					p.R15I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G44T	1						.						39.0	35.0	37.0					1																	38019787		2202	4298	6500	37792374	SO:0001583	missense	79753	exon1				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.44G>T	1.37:g.38019787C>A	ENSP00000296215:p.Arg15Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37792374	NM_024700	Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770685	0.49680	.	.	ENSG00000163877	ENST00000296215	T	0.14640	2.49	5.45	5.45	0.79879	.	0.120339	0.51477	D	0.000091	T	0.27063	0.0663	L	0.32530	0.975	0.50632	D	0.999883	D	0.71674	0.998	D	0.78314	0.991	T	0.00420	-1.1750	10	0.87932	D	0	-0.047	14.657	0.68841	0.0:1.0:0.0:0.0	.	15	Q8TAD8	SNIP1_HUMAN	I	15	ENSP00000296215:R15I	ENSP00000296215:R15I	R	-	2	0	SNIP1	37792374	0.615000	0.27026	0.765000	0.31456	0.018000	0.09664	1.928000	0.40104	2.838000	0.97847	0.655000	0.94253	AGA		0.647	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700	
GNL2	29889	broad.mit.edu	37	1	38032456	38032456	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38032456T>G	ENST00000373062.3	-	16	2294	c.2196A>C	c.(2194-2196)taA>taC	p.*732Y	DNALI1_ENST00000296218.7_3'UTR|DNALI1_ENST00000497858.1_3'UTR|GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	0					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.*732Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTTTTAAACATTACTGCTTTT	0.343																																					p.X732Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A2196C	1						.						199.0	193.0	195.0					1																	38032456		2203	4300	6503	37805043	SO:0001578	stop_lost	29889	exon16			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2196A>C	1.37:g.38032456T>G		Somatic		Capture	Illumina HiSeq	Phase_I	37805043	NM_013285	Q9BWN7	Nonstop_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	9.949	1.219674	0.22373	.	.	ENSG00000134697	ENST00000373062	.	.	.	5.63	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4096	0.38482	0.0:0.2919:0.0:0.7081	.	.	.	.	Y	732	.	.	X	-	3	2	GNL2	37805043	0.720000	0.27996	0.347000	0.25668	0.038000	0.13279	0.874000	0.28065	0.945000	0.37605	0.533000	0.62120	TAA		0.343	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
GNL2	29889	broad.mit.edu	37	1	38033907	38033907	+	Silent	SNP	T	T	C	rs370049441		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38033907T>C	ENST00000373062.3	-	14	2018	c.1920A>G	c.(1918-1920)agA>agG	p.R640R	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	640					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R640R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CCAGTGTTTTTCTTTGTTCTT	0.343																																					p.R640R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1920G	1						.	T		0,4404		0,0,2202	211.0	194.0	199.0		1920	-1.6	0.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GNL2	NM_013285.2		0,1,6501	CC,CT,TT		0.0116,0.0,0.0077		640/732	38033907	1,13003	2202	4300	6502	37806494	SO:0001819	synonymous_variant	29889	exon14			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1920A>G	1.37:g.38033907T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37806494	NM_013285	Q9BWN7	Silent	SNP	ENST00000373062.3	37	CCDS421.1																																																																																				0.343	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
GNL2	29889	broad.mit.edu	37	1	38041276	38041276	+	Missense_Mutation	SNP	G	G	A	rs375198771		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38041276G>A	ENST00000373062.3	-	10	1161	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	355	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R355C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AATATCCGACGCATCAAAGTA	0.438																																					p.R355C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	1						.						97.0	94.0	95.0					1																	38041276		2203	4300	6503	37813863	SO:0001583	missense	29889	exon10			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1063C>T	1.37:g.38041276G>A	ENSP00000362153:p.Arg355Cys	Somatic		Capture	Illumina HiSeq	Phase_I	37813863	NM_013285	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417043	0.83449	.	.	ENSG00000134697	ENST00000373062	T	0.17854	2.25	5.97	5.97	0.96955	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45977	-0.9224	10	0.87932	D	0	-11.6514	16.6752	0.85277	0.0:0.0:0.8699:0.1301	.	355	Q13823	NOG2_HUMAN	C	355	ENSP00000362153:R355C	ENSP00000362153:R355C	R	-	1	0	GNL2	37813863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.898000	0.48672	2.835000	0.97688	0.591000	0.81541	CGT		0.438	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
GNL2	29889	broad.mit.edu	37	1	38058329	38058329	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38058329T>C	ENST00000373062.3	-	3	326	c.228A>G	c.(226-228)ccA>ccG	p.P76P		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	76					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.P76P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ATTTAATATTTGGCTCTACTC	0.393																																					p.P76P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A228G	1						.						137.0	132.0	134.0					1																	38058329		2203	4300	6503	37830916	SO:0001819	synonymous_variant	29889	exon3			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.228A>G	1.37:g.38058329T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37830916	NM_013285	Q9BWN7	Silent	SNP	ENST00000373062.3	37	CCDS421.1																																																																																				0.393	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
MACF1	23499	broad.mit.edu	37	1	39550069	39550069	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39550069C>T	ENST00000372915.3	+	1	266	c.179C>T	c.(178-180)tCg>tTg	p.S60L	MACF1_ENST00000602421.1_Missense_Mutation_p.S60L|MACF1_ENST00000484793.1_Missense_Mutation_p.S60L|MACF1_ENST00000317713.7_Missense_Mutation_p.S60L|MACF1_ENST00000567887.1_Missense_Mutation_p.S60L|MACF1_ENST00000361689.2_Missense_Mutation_p.S60L|MACF1_ENST00000545844.1_Missense_Mutation_p.S60L|MACF1_ENST00000539005.1_Missense_Mutation_p.S60L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	60	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S60L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCCAGGATTCGGTGCTGGAC	0.642																																					p.S60L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	1						.						38.0	32.0	34.0					1																	39550069		2203	4300	6503	39322656	SO:0001583	missense	23499	exon3			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.179C>T	1.37:g.39550069C>T	ENSP00000362006:p.Ser60Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39322656	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	30	5.050930	0.93740	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.64438	-0.06;-0.0;-0.06;-0.1;0.1	5.55	5.55	0.83447	.	.	.	.	.	T	0.74390	0.3710	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75969	-0.3130	9	0.72032	D	0.01	.	17.013	0.86411	0.0:1.0:0.0:0.0	.	60	F8W8Q1	.	L	60;60;60;60;76;60;60	ENSP00000439537:S60L;ENSP00000362006:S60L;ENSP00000354573:S60L;ENSP00000313438:S60L;ENSP00000444364:S60L	ENSP00000313438:S60L	S	+	2	0	MACF1	39322656	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.086000	0.76885	2.611000	0.88343	0.655000	0.94253	TCG		0.642	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39749132	39749132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39749132C>T	ENST00000372915.3	+	8	962	c.875C>T	c.(874-876)tCg>tTg	p.S292L	MACF1_ENST00000317713.7_Missense_Mutation_p.S292L|MACF1_ENST00000567887.1_Missense_Mutation_p.S324L|MACF1_ENST00000361689.2_Missense_Mutation_p.S292L|MACF1_ENST00000545844.1_Missense_Mutation_p.S292L|MACF1_ENST00000564288.1_Missense_Mutation_p.S287L|MACF1_ENST00000539005.1_Missense_Mutation_p.S292L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S292L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGTGTCTTCGATTTATGAT	0.408																																					p.S292L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C875T	1						.						170.0	151.0	158.0					1																	39749132		2203	4300	6503	39521719	SO:0001583	missense	23499	exon10			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.875C>T	1.37:g.39749132C>T	ENSP00000362006:p.Ser292Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39521719	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	33	5.220972	0.95139	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	5.56	5.56	0.83823	.	.	.	.	.	D	0.94231	0.8148	L	0.47078	1.49	0.80722	D	1	B;D	0.64830	0.159;0.994	B;P	0.48873	0.023;0.593	D	0.94724	0.7903	9	0.87932	D	0	.	19.5461	0.95297	0.0:1.0:0.0:0.0	.	292;257	F8W8Q1;Q9UPN3-3	.;.	L	292;292;292;308;292;292;250;441;452	ENSP00000439537:S292L;ENSP00000362006:S292L;ENSP00000354573:S292L;ENSP00000313438:S292L;ENSP00000444364:S292L;ENSP00000435070:S250L;ENSP00000437059:S441L	ENSP00000313438:S292L	S	+	2	0	MACF1	39521719	1.000000	0.71417	0.964000	0.40570	0.977000	0.68977	7.818000	0.86416	2.626000	0.88956	0.585000	0.79938	TCG		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39800216	39800216	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39800216C>A	ENST00000372915.3	+	36	8058	c.7971C>A	c.(7969-7971)ttC>ttA	p.F2657L	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.F2689L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.F2652L|MACF1_ENST00000289893.4_Missense_Mutation_p.F1092L|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2657					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F1092L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAATTCCCTTCTCAGACATTA	0.398																																					p.F1092L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3276A	1						.						54.0	55.0	55.0					1																	39800216		2203	4300	6503	39572803	SO:0001583	missense	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7971C>A	1.37:g.39800216C>A	ENSP00000362006:p.Phe2657Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39572803	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	9.421	1.083138	0.20309	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.64085	-0.08;0.73	5.59	2.72	0.32119	.	0.616682	0.16091	N	0.230048	T	0.41696	0.1170	N	0.17474	0.49	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.10268	-1.0637	10	0.10636	T	0.68	.	11.047	0.47865	0.0:0.7973:0.0:0.2027	.	2657	Q9UPN3	MACF1_HUMAN	L	2657;1092	ENSP00000362006:F2657L;ENSP00000289893:F1092L	ENSP00000289893:F1092L	F	+	3	2	MACF1	39572803	0.996000	0.38824	1.000000	0.80357	0.875000	0.50365	0.595000	0.24029	0.323000	0.23307	0.561000	0.74099	TTC		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39801102	39801102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39801102G>T	ENST00000372915.3	+	36	8944	c.8857G>T	c.(8857-8859)Gaa>Taa	p.E2953*	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E2985*|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E2948*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1388*|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2953					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1388*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAGTACAAGAAACATATTG	0.388																																					p.E1388X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4162T	1						.						54.0	57.0	56.0					1																	39801102		2203	4300	6503	39573689	SO:0001587	stop_gained	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8857G>T	1.37:g.39801102G>T	ENSP00000362006:p.Glu2953*	Somatic		Capture	Illumina HiSeq	Phase_I	39573689	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	40	7.930726	0.98568	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	4.96	3.98	0.46160	.	0.722316	0.12275	N	0.483445	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.7844	0.46397	0.0:0.1921:0.8079:0.0	.	.	.	.	X	2953;1388	.	ENSP00000289893:E1388X	E	+	1	0	MACF1	39573689	0.033000	0.19621	0.331000	0.25455	0.036000	0.12997	2.506000	0.45433	2.477000	0.83638	0.467000	0.42956	GAA		0.388	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39844937	39844937	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39844937G>T	ENST00000372915.3	+	53	13441	c.13354G>T	c.(13354-13356)Gta>Tta	p.V4452L	MACF1_ENST00000361689.2_Missense_Mutation_p.V2385L|MACF1_ENST00000545844.1_Missense_Mutation_p.V2385L|MACF1_ENST00000567887.1_Missense_Mutation_p.V4484L|MACF1_ENST00000317713.7_Missense_Mutation_p.V2385L|MACF1_ENST00000564288.1_Missense_Mutation_p.V4447L|MACF1_ENST00000289893.4_Missense_Mutation_p.V2887L|MACF1_ENST00000539005.1_Missense_Mutation_p.V2364L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4452					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V2385L(1)|p.V2887L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTAGGGGGAGTACTTCATGA	0.453																																					p.V2385L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7153T	1						.						185.0	187.0	186.0					1																	39844937		2203	4300	6503	39617524	SO:0001583	missense	23499	exon50			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13354G>T	1.37:g.39844937G>T	ENSP00000362006:p.Val4452Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39617524	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.183|1.183	-0.637525|-0.637525	0.03557|0.03557	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58;1.58;1.58	6.04|6.04	-0.208|-0.208	0.13185|0.13185	.|.	.|0.773939	.|0.11531	.|N	.|0.554686	T|T	0.12092|0.12092	0.0294|0.0294	N|N	0.10916|0.10916	0.065|0.065	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.15052	.|0.012;0.003;0.001	T|T	0.30446|0.30446	-0.9978|-0.9978	5|10	.|0.18710	.|T	.|0.47	.|.	1.9394|1.9394	0.03343|0.03343	0.302:0.2176:0.376:0.1043|0.302:0.2176:0.376:0.1043	.|.	.|4452;2385;2329	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	I|L	1497|2385;4452;2385;2385;2364;2887	.|ENSP00000439537:V2385L;ENSP00000362006:V4452L;ENSP00000354573:V2385L;ENSP00000313438:V2385L;ENSP00000444364:V2364L;ENSP00000289893:V2887L	.|ENSP00000289893:V2887L	S|V	+|+	2|1	0|0	MACF1|MACF1	39617524|39617524	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.575000|0.575000	0.36095|0.36095	0.163000|0.163000	0.16520|0.16520	-0.296000|-0.296000	0.08947|0.08947	-0.205000|-0.205000	0.12727|0.12727	AGT|GTA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KIAA0754	643314	broad.mit.edu	37	1	39876473	39876473	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:39876473C>A	ENST00000530275.1	+	1	323	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	43	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.							p.S43Y(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGAAAGTTCTGGTCATTTG	0.433																																					p.S179Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C536A	1						.						47.0	48.0	48.0					1																	39876473		1875	4108	5983	39649060	SO:0001583	missense	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.128C>A	1.37:g.39876473C>A	ENSP00000431179:p.Ser43Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39649060	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	14.31	2.498156	0.44455	.	.	ENSG00000255103	ENST00000530275	T	0.42900	0.96	4.77	3.85	0.44370	.	.	.	.	.	T	0.34571	0.0902	L	0.27053	0.805	0.22610	N	0.998935	B	0.22683	0.073	B	0.25884	0.064	T	0.35748	-0.9776	9	0.87932	D	0	.	14.4007	0.67044	0.1488:0.8512:0.0:0.0	.	43	O94854	K0754_HUMAN	Y	43	ENSP00000431179:S43Y	ENSP00000431179:S43Y	S	+	2	0	RP4-562N20.1	39649060	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.112000	0.41892	1.001000	0.39076	-0.277000	0.10078	TCT		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
PABPC4	8761	broad.mit.edu	37	1	40038253	40038253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40038253G>A	ENST00000372857.3	-	2	991	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	PABPC4_ENST00000372856.3_Missense_Mutation_p.R67W|PABPC4_ENST00000372862.3_Missense_Mutation_p.R67W|PABPC4_ENST00000529216.1_5'Flank|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.R67W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCAAAGCCCGCTCAGCTGTA	0.458																																					p.R67W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	1						.						72.0	68.0	69.0					1																	40038253		2203	4300	6503	39810840	SO:0001583	missense	8761	exon2			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.199C>T	1.37:g.40038253G>A	ENSP00000361948:p.Arg67Trp	Somatic		Capture	Illumina HiSeq	Phase_I	39810840	NM_001135653	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	CCDS438.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945201	0.73672	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856;ENST00000451091	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.69	-0.00311	0.14027	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046604	0.85682	N	0.000000	T	0.34978	0.0916	M	0.70842	2.15	0.54753	D	0.99998	D;P;D	0.89917	0.962;0.9;1.0	P;P;D	0.77004	0.542;0.514;0.989	T	0.06534	-1.0821	10	0.66056	D	0.02	.	9.9906	0.41868	0.0626:0.0:0.4641:0.4733	.	67;67;67	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	W	67	ENSP00000361953:R67W;ENSP00000361949:R67W;ENSP00000361948:R67W;ENSP00000361947:R67W;ENSP00000406675:R67W	ENSP00000361947:R67W	R	-	1	2	PABPC4	39810840	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	3.156000	0.50708	0.017000	0.15025	-0.181000	0.13052	CGG		0.458	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653	
NT5C1A	84618	broad.mit.edu	37	1	40126793	40126793	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40126793G>A	ENST00000235628.1	-	5	698	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	233					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.F233F(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATGCTCGAAGAATCGGTCCA	0.627																																					p.F233F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C699T	1						.						103.0	99.0	100.0					1																	40126793		2203	4300	6503	39899380	SO:0001819	synonymous_variant	84618	exon5			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.699C>T	1.37:g.40126793G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39899380	NM_032526	Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	CCDS440.1																																																																																				0.627	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	
PPIE	10450	broad.mit.edu	37	1	40214723	40214723	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40214723C>T	ENST00000324379.5	+	8	676	c.657C>T	c.(655-657)ttC>ttT	p.F219F	PPIE_ENST00000372830.1_Silent_p.F219F|PPIE_ENST00000470213.1_Missense_Mutation_p.S178L|PPIE_ENST00000356511.2_Silent_p.F219F	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	219	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F219F(1)		kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAAGAAGTTCGATGATGAAA	0.557																																					p.F219F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657T	1						.						89.0	85.0	86.0					1																	40214723		2203	4300	6503	39987310	SO:0001819	synonymous_variant	10450	exon8			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.657C>T	1.37:g.40214723C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39987310	NM_006112	B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Silent	SNP	ENST00000324379.5	37	CCDS443.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739640	0.49045	.	.	ENSG00000084072	ENST00000470213	T	0.04194	3.68	4.87	-4.23	0.03789	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22695	-1.0209	6	0.72032	D	0.01	-21.7439	7.1697	0.25712	0.0:0.3902:0.1196:0.4902	.	.	.	.	L	178	ENSP00000431714:S178L	ENSP00000431714:S178L	S	+	2	0	PPIE	39987310	0.979000	0.34478	0.958000	0.39756	0.813000	0.45954	0.085000	0.14912	-1.006000	0.03412	-0.379000	0.06801	TCG		0.557	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112	
TRIT1	54802	broad.mit.edu	37	1	40307572	40307572	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40307572G>T	ENST00000316891.5	-	11	1262	c.1248C>A	c.(1246-1248)tcC>tcA	p.S416S	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.S34S|TRIT1_ENST00000372818.1_Silent_p.S390S|TRIT1_ENST00000537440.1_Silent_p.S112S|TRIT1_ENST00000441669.2_Silent_p.S334S|TRIT1_ENST00000537223.1_Silent_p.S112S|TRIT1_ENST00000545233.1_Silent_p.S170S	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	416					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.S416S(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTGGGATTTGGATTTTATGT	0.343																																					p.S416S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1248A	1						.						140.0	133.0	135.0					1																	40307572		2203	4300	6503	40080159	SO:0001819	synonymous_variant	54802	exon11			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1248C>A	1.37:g.40307572G>T		Somatic		Capture	Illumina HiSeq	Phase_I	40080159	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	CCDS30681.1																																																																																				0.343	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646	
MYCL	4610	broad.mit.edu	37	1	40363565	40363565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40363565G>A	ENST00000372816.2	-	2	1021	c.574C>T	c.(574-576)Cga>Tga	p.R192*	MYCL_ENST00000397332.2_Nonsense_Mutation_p.R222*|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	192						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R222*(1)									GGGTCTGCTCGCACCGTGATG	0.507																																					p.R222X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C664T	1						.						93.0	96.0	95.0					1																	40363565		2203	4300	6503	40136152	SO:0001587	stop_gained	4610	exon3				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.574C>T	1.37:g.40363565G>A	ENSP00000361903:p.Arg192*	Somatic		Capture	Illumina HiSeq	Phase_I	40136152	NM_001033082	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Nonsense_Mutation	SNP	ENST00000372816.2	37	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	G	40	8.156424	0.98680	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	.	.	.	6.06	4.16	0.48862	.	0.116487	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6087	15.5456	0.76097	0.0:0.0:0.7472:0.2528	.	.	.	.	X	222;192	.	ENSP00000361903:R192X	R	-	1	2	MYCL1	40136152	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.885000	0.63142	0.859000	0.35456	0.655000	0.94253	CGA		0.507	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082	
MFSD2A	84879	broad.mit.edu	37	1	40432596	40432596	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40432596G>A	ENST00000372809.5	+	8	1101	c.958G>A	c.(958-960)Gct>Act	p.A320T	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.A307T|MFSD2A_ENST00000420632.2_Missense_Mutation_p.A151T	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	320					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.A307T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CACCTCCTTGGCTTTCATGGT	0.572																																					p.A320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	1						.						118.0	106.0	110.0					1																	40432596		2203	4300	6503	40205183	SO:0001583	missense	84879	exon8			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.958G>A	1.37:g.40432596G>A	ENSP00000361895:p.Ala320Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40205183	NM_001136493	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174416	0.94807	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.81659	-1.52;-1.52;-1.52	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.991	D	0.90002	0.4115	10	0.42905	T	0.14	-10.6886	19.0505	0.93041	0.0:0.0:1.0:0.0	.	268;320;307	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	T	307;151;320	ENSP00000361898:A307T;ENSP00000391261:A151T;ENSP00000361895:A320T	ENSP00000361895:A320T	A	+	1	0	MFSD2A	40205183	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.816000	0.96949	0.563000	0.77884	GCT		0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793	
TMCO2	127391	broad.mit.edu	37	1	40717011	40717011	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40717011T>G	ENST00000372766.3	+	2	387	c.294T>G	c.(292-294)atT>atG	p.I98M	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	98						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.I98M(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GCTCACATATTTTTGAGGCTT	0.363																																					p.I98M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T294G	1						.						82.0	86.0	84.0					1																	40717011		2203	4300	6503	40489598	SO:0001583	missense	127391	exon2			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.294T>G	1.37:g.40717011T>G	ENSP00000361852:p.Ile98Met	Somatic		Capture	Illumina HiSeq	Phase_I	40489598	NM_001008740		Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012548	0.35511	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.23	5.23	0.72850	.	0.225652	0.32002	N	0.006726	T	0.24661	0.0598	N	0.14661	0.345	0.23271	N	0.998002	P	0.43094	0.799	B	0.41764	0.366	T	0.14476	-1.0471	9	0.52906	T	0.07	-10.0627	11.4378	0.50078	0.0:0.0:0.0:1.0	.	98	Q7Z6W1	TMCO2_HUMAN	M	98	.	ENSP00000361852:I98M	I	+	3	3	TMCO2	40489598	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.068000	0.41471	2.198000	0.70561	0.528000	0.53228	ATT		0.363	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740	
SMAP2	64744	broad.mit.edu	37	1	40875482	40875482	+	Missense_Mutation	SNP	G	G	A	rs150217633	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40875482G>A	ENST00000539317.1	+	4	330	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	126	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R126Q(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TACATGGACCGAAGTCTGGAC	0.378																																					p.R121Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	1						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	125.0	121.0	123.0		287,362,137,377	5.5	1.0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SMAP2	NM_001198978.1,NM_001198979.1,NM_001198980.1,NM_022733.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	96/400,121/425,46/350,126/430	40875482	1,13005	2203	4300	6503	40648069	SO:0001583	missense	64744	exon4			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.137G>A	1.37:g.40875482G>A	ENSP00000442835:p.Arg46Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40648069	NM_001198979	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856562	0.71834	0.0	1.16E-4	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.42131	0.98;0.98;1.2	5.53	5.53	0.82687	.	0.056383	0.64402	D	0.000001	T	0.53916	0.1826	L	0.58354	1.805	0.54753	D	0.99998	D;D;D	0.64830	0.994;0.974;0.992	P;P;P	0.54174	0.738;0.467;0.744	T	0.52200	-0.8607	10	0.45353	T	0.12	-0.4996	16.9553	0.86257	0.0:0.0:1.0:0.0	.	46;96;126	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	Q	126;126;96;46	ENSP00000361803:R126Q;ENSP00000361793:R96Q;ENSP00000442835:R46Q	ENSP00000361793:R96Q	R	+	2	0	SMAP2	40648069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.322000	0.72886	2.597000	0.87782	0.655000	0.94253	CGA		0.378	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733	
SMAP2	64744	broad.mit.edu	37	1	40881994	40881994	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40881994G>A	ENST00000539317.1	+	8	781	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T276T(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458																																					p.T271T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G813A	1						.						114.0	111.0	112.0					1																	40881994		2203	4300	6503	40654581	SO:0001819	synonymous_variant	64744	exon8			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.588G>A	1.37:g.40881994G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40654581	NM_001198979	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	CCDS55593.1																																																																																				0.458	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733	
ZFP69B	65243	broad.mit.edu	37	1	40928552	40928552	+	Missense_Mutation	SNP	G	G	T	rs143880922	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40928552G>T	ENST00000411995.2	+	6	1271	c.896G>T	c.(895-897)aGa>aTa	p.R299I	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R197I|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	299					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)	p.R197I(1)									GAACACATGAGAATTCATACC	0.348																																					p.R299I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G896T	1						.						46.0	49.0	48.0					1																	40928552		2203	4300	6503	40701139	SO:0001583	missense	65243	exon5			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.896G>T	1.37:g.40928552G>T	ENSP00000399664:p.Arg299Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40701139	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	19.60	3.857985	0.71834	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.24908	1.83;4.29	3.13	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33585	0.0868	M	0.75085	2.285	0.53688	D	0.999978	P	0.48640	0.913	P	0.44860	0.462	T	0.43212	-0.9405	9	0.87932	D	0	.	12.4855	0.55871	0.0:0.0:1.0:0.0	.	299	Q9UJL9	ZN643_HUMAN	I	230;299;197	ENSP00000399664:R299I;ENSP00000354547:R197I	ENSP00000354547:R197I	R	+	2	0	ZNF643	40701139	0.159000	0.22864	1.000000	0.80357	0.996000	0.88848	1.425000	0.34859	2.047000	0.60756	0.585000	0.79938	AGA		0.348	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
ZFP69B	65243	broad.mit.edu	37	1	40929238	40929238	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40929238A>C	ENST00000411995.2	+	6	1957	c.1582A>C	c.(1582-1584)Aat>Cat	p.N528H	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.N426H|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	528					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)	p.N426H(1)									ACATTTAAGAAATACCTTCAG	0.358																																					p.N528H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1582C	1						.						40.0	43.0	42.0					1																	40929238		2195	4283	6478	40701825	SO:0001583	missense	65243	exon5			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1582A>C	1.37:g.40929238A>C	ENSP00000399664:p.Asn528His	Somatic		Capture	Illumina HiSeq	Phase_I	40701825	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	8.617	0.890462	0.17613	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.09350	3.45;2.99	3.33	2.16	0.27623	.	.	.	.	.	T	0.10766	0.0263	N	0.13272	0.32	0.23010	N	0.998432	D	0.63046	0.992	P	0.57371	0.819	T	0.18524	-1.0334	9	0.87932	D	0	.	2.6681	0.05058	0.6482:0.0:0.1235:0.2283	.	528	Q9UJL9	ZN643_HUMAN	H	459;528;426	ENSP00000399664:N528H;ENSP00000354547:N426H	ENSP00000354547:N426H	N	+	1	0	ZNF643	40701825	.	.	0.273000	0.24645	0.449000	0.32228	.	.	0.620000	0.30215	0.533000	0.62120	AAT		0.358	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657																																					p.A42T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G124A	1						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	39.0	38.0	39.0		124	3.6	0.5	1	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense	RIMS3	NM_014747.2	58	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	benign	42/309	41107474	3,13001	2203	4299	6502	40880061	SO:0001583	missense	9783	exon3			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.124G>A	1.37:g.41107474C>T	ENSP00000361769:p.Ala42Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40880061	NM_014747	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368553	0.42003	4.54E-4	1.16E-4	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.36520	1.25;1.25	5.52	3.61	0.41365	.	0.398245	0.29587	N	0.011725	T	0.15046	0.0363	N	0.04203	-0.255	0.31819	N	0.626227	B	0.11235	0.004	B	0.04013	0.001	T	0.07693	-1.0759	10	0.34782	T	0.22	-14.4647	5.0493	0.14499	0.1685:0.661:0.0:0.1705	.	42	Q9UJD0	RIMS3_HUMAN	T	42	ENSP00000361769:A42T;ENSP00000361768:A42T	ENSP00000361768:A42T	A	-	1	0	RIMS3	40880061	0.976000	0.34144	0.544000	0.28141	0.749000	0.42624	2.542000	0.45744	0.659000	0.30945	0.655000	0.94253	GCC		0.657	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
CTPS1	1503	broad.mit.edu	37	1	41454346	41454346	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:41454346G>T	ENST00000372621.4	+	5	1027	c.519G>T	c.(517-519)gaG>gaT	p.E173D	CTPS1_ENST00000372616.1_Missense_Mutation_p.E173D|CTPS1_ENST00000543104.1_Missense_Mutation_p.E180D|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2			CTP synthase 1									p.E173D(1)		endometrium(3)|lung(10)	13						TCAAAAGAGAGAACTTTTGTA	0.453																																					p.E173D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G519T	1						.						130.0	120.0	124.0					1																	41454346		2203	4300	6503	41226933	SO:0001583	missense	1503	exon5			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.519G>T	1.37:g.41454346G>T	ENSP00000361704:p.Glu173Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41226933	NM_001905		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991147	0.35131	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.46063	0.88;0.88	5.46	2.04	0.26737	CTP synthase, N-terminal (1);	0.090833	0.85682	D	0.000000	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.22880	0.042;0.042	T	0.05037	-1.0910	10	0.16420	T	0.52	.	9.6924	0.40136	0.3277:0.0:0.6723:0.0	.	180;173	B7Z9C4;P17812	.;PYRG1_HUMAN	D	173;180;173	ENSP00000361704:E173D;ENSP00000361699:E173D	ENSP00000361699:E173D	E	+	3	2	CTPS	41226933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.023000	0.41040	0.643000	0.30638	0.655000	0.94253	GAG		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
CTPS1	1503	broad.mit.edu	37	1	41467887	41467887	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:41467887G>T	ENST00000372621.4	+	11	1658	c.1150G>T	c.(1150-1152)Gca>Tca	p.A384S	CTPS1_ENST00000372616.1_Missense_Mutation_p.A384S|CTPS1_ENST00000541520.1_Missense_Mutation_p.A153S	NM_001905.2	NP_001896.2			CTP synthase 1									p.A384S(1)		endometrium(3)|lung(10)	13						AAAAATCCAAGCAATTGCCTG	0.478																																					p.A384S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150T	1						.						183.0	176.0	178.0					1																	41467887		2203	4300	6503	41240474	SO:0001583	missense	1503	exon11			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1150G>T	1.37:g.41467887G>T	ENSP00000361704:p.Ala384Ser	Somatic		Capture	Illumina HiSeq	Phase_I	41240474	NM_001905		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177492	0.94846	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.91124	-2.79;-2.79;-2.79	6.06	6.06	0.98353	Glutamine amidotransferase type 1 (2);	0.095046	0.64402	D	0.000001	D	0.95896	0.8664	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.99	D	0.95720	0.8765	10	0.66056	D	0.02	.	18.1182	0.89563	0.0:0.0:1.0:0.0	.	153;384	B4DR64;P17812	.;PYRG1_HUMAN	S	384;153;384	ENSP00000361704:A384S;ENSP00000442646:A153S;ENSP00000361699:A384S	ENSP00000361699:A384S	A	+	1	0	CTPS	41240474	1.000000	0.71417	0.920000	0.36463	0.834000	0.47266	9.175000	0.94831	2.879000	0.98667	0.650000	0.86243	GCA		0.478	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
CTPS1	1503	broad.mit.edu	37	1	41473204	41473204	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:41473204G>A	ENST00000372621.4	+	14	1888	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	CTPS1_ENST00000372616.1_Silent_p.K460K|CTPS1_ENST00000541520.1_Silent_p.K229K	NM_001905.2	NP_001896.2			CTP synthase 1									p.K460K(1)		endometrium(3)|lung(10)	13						TCCAGACCAAGAACTCAGTCA	0.577																																					p.K460K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1380A	1						.						105.0	81.0	89.0					1																	41473204		2203	4300	6503	41245791	SO:0001819	synonymous_variant	1503	exon14			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1380G>A	1.37:g.41473204G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41245791	NM_001905		Silent	SNP	ENST00000372621.4	37	CCDS459.1																																																																																				0.577	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
SLFNL1	200172	broad.mit.edu	37	1	41483375	41483375	+	Missense_Mutation	SNP	A	A	C	rs200045066	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:41483375A>C	ENST00000359345.1	-	2	3465	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V	SLFNL1_ENST00000397197.2_Missense_Mutation_p.F297V|SLFNL1_ENST00000372613.2_Missense_Mutation_p.F297V|SLFNL1_ENST00000439569.2_Missense_Mutation_p.F297V|SLFNL1_ENST00000302946.8_Missense_Mutation_p.F297V|SLFNL1_ENST00000372611.1_Missense_Mutation_p.F238V	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	297							ATP binding (GO:0005524)	p.F297V(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCATCGGGAAAGATCTGAGGC	0.647																																					p.F297V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T889G	1						.						84.0	79.0	80.0					1																	41483375		2203	4300	6503	41255962	SO:0001583	missense	200172	exon3			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.889T>G	1.37:g.41483375A>C	ENSP00000352299:p.Phe297Val	Somatic		Capture	Illumina HiSeq	Phase_I	41255962	NM_144990	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	CCDS460.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042431	0.35989	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.2	4.06	0.47325	.	0.000000	0.56097	D	0.000033	T	0.39009	0.1062	L	0.33792	1.035	0.35738	D	0.818449	D;D;D	0.89917	0.996;1.0;0.979	D;D;P	0.83275	0.944;0.996;0.877	T	0.41875	-0.9484	10	0.29301	T	0.29	-21.7176	8.3688	0.32402	0.8253:0.0:0.0:0.1747	.	297;238;297	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	V	297;297;238;297;297;297	ENSP00000304401:F297V;ENSP00000361696:F297V;ENSP00000361694:F238V;ENSP00000352299:F297V;ENSP00000398938:F297V;ENSP00000380381:F297V	ENSP00000304401:F297V	F	-	1	0	SLFNL1	41255962	1.000000	0.71417	0.998000	0.56505	0.002000	0.02628	4.216000	0.58540	0.802000	0.34089	-0.516000	0.04426	TTT		0.647	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990	
HIVEP3	59269	broad.mit.edu	37	1	42049977	42049977	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:42049977G>A	ENST00000372583.1	-	4	1377	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_ENST00000247584.5_Silent_p.F164F|HIVEP3_ENST00000429157.2_Silent_p.F164F|HIVEP3_ENST00000372584.1_Silent_p.F164F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	164					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F164F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACGAGGCACGAAGACTTTGG	0.597																																					p.F164F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	1						.						90.0	96.0	94.0					1																	42049977		2203	4300	6503	41822564	SO:0001819	synonymous_variant	59269	exon4			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.492C>T	1.37:g.42049977G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41822564	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																				0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
GUCA2A	2980	broad.mit.edu	37	1	42629216	42629216	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:42629216C>T	ENST00000357001.2	-	2	146	c.141G>A	c.(139-141)gaG>gaA	p.E47E		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	47						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)	p.E47E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAACCCTGGGCTCCTGGGGCT	0.537																																					p.E47E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	1						.						36.0	40.0	38.0					1																	42629216		2203	4300	6503	42401803	SO:0001819	synonymous_variant	2980	exon2			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"""Endogenous ligands"""	4682	protein-coding gene	gene with protein product	"""prepro-guanylin"""	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.141G>A	1.37:g.42629216C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42401803	NM_033553		Silent	SNP	ENST00000357001.2	37	CCDS465.1																																																																																				0.537	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1	NM_033553	
CCDC30	728621	broad.mit.edu	37	1	43011224	43011224	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43011224C>T	ENST00000340612.4	+	3	399	c.399C>T	c.(397-399)agC>agT	p.S133S	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000428554.2_Silent_p.S133S|CCDC30_ENST00000342022.4_Silent_p.S133S			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	133						extracellular vesicular exosome (GO:0070062)		p.S133S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATTCAAAGCCGAAAGGAAG	0.333																																					p.S133S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C399T	1						.						57.0	64.0	62.0					1																	43011224		2199	4300	6499	42783811	SO:0001819	synonymous_variant	728621	exon4			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.399C>T	1.37:g.43011224C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42783811	NM_001080850	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																				0.333	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
LEPRE1	64175	broad.mit.edu	37	1	43221252	43221252	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43221252A>C	ENST00000296388.5	-	6	1188	c.1137T>G	c.(1135-1137)gcT>gcG	p.A379A	LEPRE1_ENST00000397054.3_Silent_p.A379A|LEPRE1_ENST00000236040.4_Silent_p.A379A			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	379					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.A379A(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAACATCATAAGCGAAGAAAA	0.507																																					p.A379A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1137G	1						.						117.0	109.0	112.0					1																	43221252		2203	4300	6503	42993839	SO:0001819	synonymous_variant	64175	exon6			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1137T>G	1.37:g.43221252A>C		Somatic		Capture	Illumina HiSeq	Phase_I	42993839	NM_022356	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	CCDS472.2																																																																																				0.507	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
EBNA1BP2	10969	broad.mit.edu	37	1	43636509	43636509	+	Missense_Mutation	SNP	C	C	T	rs535649425		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43636509C>T	ENST00000236051.2	-	4	506	c.365G>A	c.(364-366)cGc>cAc	p.R122H	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.R177H|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	122					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R122H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGATGGAGGCGGGGTAAGAC	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19784	0.0		0.0	False		,,,				2504	0.0				p.R122H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365A	1						.						164.0	160.0	161.0					1																	43636509		2203	4300	6503	43409096	SO:0001583	missense	10969	exon4			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.365G>A	1.37:g.43636509C>T	ENSP00000236051:p.Arg122His	Somatic		Capture	Illumina HiSeq	Phase_I	43409096	NM_006824	Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299668	0.60195	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.47869	0.83;0.83	5.47	4.56	0.56223	.	0.135701	0.53938	D	0.000058	T	0.62159	0.2405	M	0.84326	2.69	0.58432	D	0.999995	D;D	0.60575	0.988;0.988	P;P	0.51385	0.668;0.668	T	0.71017	-0.4714	10	0.87932	D	0	-9.4898	14.5945	0.68395	0.0:0.9297:0.0:0.0703	.	122;122	Q6IB29;Q99848	.;EBP2_HUMAN	H	177;122	ENSP00000407323:R177H;ENSP00000236051:R122H	ENSP00000236051:R122H	R	-	2	0	EBNA1BP2	43409096	0.988000	0.35896	0.996000	0.52242	0.055000	0.15305	2.204000	0.42761	1.464000	0.47987	-0.145000	0.13849	CGC		0.483	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		
CFAP57	149465	broad.mit.edu	37	1	43675687	43675687	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43675687C>A	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.L677I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN										p.L677I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTCCTTCTTCTCTCTTATTT	0.438																																					p.L677I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2029A	1						.						228.0	212.0	217.0					1																	43675687		2203	4300	6503	43448274	SO:0001627	intron_variant	149465	exon11																														ENST00000372492.4:c.1929+100C>A	1.37:g.43675687C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43448274	NM_152498	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	c	11.25	1.583413	0.28268	.	.	ENSG00000243710	ENST00000528956	T	0.36520	1.25	3.79	2.87	0.33458	.	5.096550	0.00496	N	0.000152	T	0.27866	0.0686	.	.	.	0.09310	N	1	B	0.30634	0.288	B	0.30646	0.118	T	0.20806	-1.0264	8	.	.	.	.	7.0983	0.25321	0.0:0.8741:0.0:0.1259	.	677	Q96MR6-2	.	I	677	ENSP00000435310:L677I	.	L	+	1	0	WDR65	43448274	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	0.020000	0.13466	0.913000	0.36797	0.574000	0.79327	CTC		0.438	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
TIE1	7075	broad.mit.edu	37	1	43783698	43783698	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43783698C>T	ENST00000372476.3	+	17	2956	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	TIE1_ENST00000433781.2_Silent_p.F604F|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	959	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F959F(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTGCGTTTCGCCAGTGATG	0.602																																					p.F959F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2877T	1						.						71.0	74.0	73.0					1																	43783698		2203	4300	6503	43556285	SO:0001819	synonymous_variant	7075	exon17			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2877C>T	1.37:g.43783698C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43556285	NM_005424	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																				0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
SZT2	23334	broad.mit.edu	37	1	43897953	43897953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43897953G>A	ENST00000562955.1	+	36	5114	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H	SZT2_ENST00000372442.1_Missense_Mutation_p.R863H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1762					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R863H(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGTTCCGCCGCCTCCATCTC	0.562																																					p.R863H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2588A	1						.						229.0	238.0	235.0					1																	43897953		2203	4300	6503	43670540	SO:0001583	missense	23334	exon22			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5114G>A	1.37:g.43897953G>A	ENSP00000457168:p.Arg1705His	Somatic		Capture	Illumina HiSeq	Phase_I	43670540	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382584	0.42207	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.98	4.12	0.48240	.	0.111779	0.64402	N	0.000018	T	0.27205	0.0667	N	0.19112	0.55	0.21802	N	0.999538	B	0.18968	0.032	B	0.16722	0.016	T	0.17501	-1.0367	9	0.46703	T	0.11	.	9.2463	0.37527	0.1652:0.0:0.8348:0.0	.	1705	Q5T011-5	.	H	863	.	ENSP00000361519:R863H	R	+	2	0	SZT2	43670540	0.998000	0.40836	0.998000	0.56505	0.546000	0.35178	2.898000	0.48672	0.876000	0.35872	-0.150000	0.13652	CGC		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
HYI	81888	broad.mit.edu	37	1	43917630	43917630	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43917630A>G	ENST00000372425.4	-	4	676	c.481T>C	c.(481-483)Tac>Cac	p.Y161H	SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Missense_Mutation_p.Y161H|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000486909.1_Missense_Mutation_p.Y161H|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Missense_Mutation_p.Y88H|HYI_ENST00000372426.1_Missense_Mutation_p.Y113H|HYI_ENST00000372434.1_Missense_Mutation_p.Y186H			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	161							hydroxypyruvate isomerase activity (GO:0008903)	p.Y88H(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGGAAGTACTGGGGGTCA	0.602																																					p.Y161H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T481C	1						.						105.0	110.0	108.0					1																	43917630		2203	4300	6503	43690217	SO:0001583	missense	81888	exon4				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.481T>C	1.37:g.43917630A>G	ENSP00000361502:p.Tyr161His	Somatic		Capture	Illumina HiSeq	Phase_I	43690217	NM_031207	D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918188	0.92249	.	.	ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.38	5.38	0.77491	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	H	0.94264	3.515	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.84284	0.0496	10	0.87932	D	0	.	15.6963	0.77502	1.0:0.0:0.0:0.0	.	161	Q5T013	HYI_HUMAN	H	161;79;113;88;161;94;113;161	ENSP00000361502:Y161H;ENSP00000361509:Y161H;ENSP00000361503:Y113H;ENSP00000428399:Y161H	ENSP00000361502:Y161H	Y	-	1	0	HYI	43690217	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.888000	0.92464	2.180000	0.69256	0.379000	0.24179	TAC		0.602	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207	
PTPRF	5792	broad.mit.edu	37	1	44086156	44086156	+	Missense_Mutation	SNP	G	G	A	rs372799990		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:44086156G>A	ENST00000359947.4	+	31	5610	c.5270G>A	c.(5269-5271)cGc>cAc	p.R1757H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1748H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1748H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1757H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1116H|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1757	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1747H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCAGAGCGCTCTGCTCGC	0.572																																					p.R1748H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5243A	1						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	126.0	108.0	114.0		5270,5243	5.2	1.0	1		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1757/1908,1748/1899	44086156	1,13005	2203	4300	6503	43858743	SO:0001583	missense	5792	exon30			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5270G>A	1.37:g.44086156G>A	ENSP00000353030:p.Arg1757His	Somatic		Capture	Illumina HiSeq	Phase_I	43858743	NM_130440	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.51|19.51	3.841247|3.841247	0.71488|0.71488	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.11277	.|2.79;2.79;2.79;2.79;2.79;2.79	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34828	.|N	.|0.003651	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	.|B;P;P;D;D	.|0.89917	.|0.444;0.578;0.66;0.998;1.0	.|B;B;B;D;D	.|0.85130	.|0.023;0.042;0.116;0.951;0.997	T|T	0.00217|0.00217	-1.1909|-1.1909	5|10	.|0.46703	.|T	.|0.11	.|.	19.6545|19.6545	0.95831|0.95831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1402;1116;1334;1748;1757	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	1403|1757;1748;1757;1748;1116;829	.|ENSP00000353030:R1757H;ENSP00000398822:R1748H;ENSP00000361491:R1757H;ENSP00000361490:R1748H;ENSP00000387885:R1116H;ENSP00000361484:R829H	.|ENSP00000353030:R1757H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43858743|43858743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.807000|9.807000	0.99171|0.99171	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.572	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
B4GALT2	8704	broad.mit.edu	37	1	44450592	44450592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:44450592C>T	ENST00000356836.6	+	4	1395	c.605C>T	c.(604-606)gCg>gTg	p.A202V	B4GALT2_ENST00000434555.2_Missense_Mutation_p.A136V|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.A231V|B4GALT2_ENST00000372324.1_Missense_Mutation_p.A202V	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	202					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.A202V(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TTCCTAGAGGCGCTGAAGGAG	0.612																																					p.A202V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605T	1						.						99.0	82.0	88.0					1																	44450592		2203	4300	6503	44223179	SO:0001583	missense	8704	exon4			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.605C>T	1.37:g.44450592C>T	ENSP00000349293:p.Ala202Val	Somatic		Capture	Illumina HiSeq	Phase_I	44223179	NM_001005417	B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400451	0.83120	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.25	4.34	0.51931	.	0.064468	0.64402	D	0.000007	T	0.69895	0.3162	M	0.75264	2.295	0.80722	D	1	P;D;D	0.89917	0.82;1.0;1.0	B;D;D	0.65443	0.054;0.935;0.934	T	0.74225	-0.3734	10	0.72032	D	0.01	-3.4858	13.9182	0.63914	0.0:0.9261:0.0:0.0739	.	231;136;202	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	V	202;136;202;231	ENSP00000361399:A202V;ENSP00000407468:A136V;ENSP00000349293:A202V;ENSP00000310696:A231V	ENSP00000310696:A231V	A	+	2	0	B4GALT2	44223179	1.000000	0.71417	0.992000	0.48379	0.729000	0.41735	4.954000	0.63631	1.223000	0.43536	0.436000	0.28706	GCG		0.612	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780	
B4GALT2	8704	broad.mit.edu	37	1	44451230	44451230	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:44451230G>A	ENST00000356836.6	+	6	1695	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R236Q|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R331Q|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R302Q	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	302					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R302Q(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCAGACATCCGAATCGGCCGC	0.597																																					p.R302Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	1						.						147.0	127.0	134.0					1																	44451230		2203	4300	6503	44223817	SO:0001583	missense	8704	exon6			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.905G>A	1.37:g.44451230G>A	ENSP00000349293:p.Arg302Gln	Somatic		Capture	Illumina HiSeq	Phase_I	44223817	NM_001005417	B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015357	0.54468	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.46	5.46	0.80206	.	0.058261	0.64402	D	0.000001	T	0.18759	0.0450	N	0.02802	-0.49	0.58432	D	0.999999	P;P;P	0.52842	0.512;0.956;0.904	B;B;B	0.41666	0.208;0.194;0.363	T	0.13656	-1.0501	10	0.14252	T	0.57	-5.8363	19.3135	0.94202	0.0:0.0:1.0:0.0	.	331;236;302	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	Q	302;236;302;331	ENSP00000361399:R302Q;ENSP00000407468:R236Q;ENSP00000349293:R302Q;ENSP00000310696:R331Q	ENSP00000310696:R331Q	R	+	2	0	B4GALT2	44223817	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.624000	0.54231	2.568000	0.86640	0.411000	0.27672	CGA		0.597	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780	
SLC6A9	6536	broad.mit.edu	37	1	44463391	44463391	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:44463391C>T	ENST00000360584.2	-	14	2138	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	SLC6A9_ENST00000475075.2_Silent_p.K465K|SLC6A9_ENST00000372310.3_Silent_p.K576K|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.K595K|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	649					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.K649K(1)|p.K576K(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTCTGCTTGGCTTTGTGGCAT	0.657																																					p.K649K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1947A	1						.						98.0	111.0	107.0					1																	44463391		2203	4300	6503	44235978	SO:0001819	synonymous_variant	6536	exon14			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1947G>A	1.37:g.44463391C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44235978	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	CCDS41317.1																																																																																				0.657	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
KIF2C	11004	broad.mit.edu	37	1	45221891	45221891	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:45221891C>T	ENST00000372224.4	+	10	1072	c.959C>T	c.(958-960)tCg>tTg	p.S320L	KIF2C_ENST00000372218.4_Missense_Mutation_p.S279L|KIF2C_ENST00000372217.1_Missense_Mutation_p.S266L|KIF2C_ENST00000372222.3_Missense_Mutation_p.S207L|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	320	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.S320L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAAACAGCTTCGAATGAAGTT	0.433																																					p.S320L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C959T	1						.						213.0	207.0	209.0					1																	45221891		2203	4300	6503	44994478	SO:0001583	missense	11004	exon10			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.959C>T	1.37:g.45221891C>T	ENSP00000361298:p.Ser320Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44994478	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128295	0.56721	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	5.93	5.93	0.95920	Kinesin, motor domain (4);	0.063355	0.64402	D	0.000008	T	0.34279	0.0892	M	0.79475	2.455	0.58432	D	0.999997	P;P;P	0.48503	0.552;0.882;0.911	B;B;B	0.42625	0.393;0.301;0.298	T	0.26121	-1.0112	10	0.72032	D	0.01	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	279;266;320	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	279;320;279;207;266	ENSP00000410346:S279L;ENSP00000361298:S320L;ENSP00000361292:S279L;ENSP00000361296:S207L;ENSP00000361291:S266L	ENSP00000361291:S266L	S	+	2	0	KIF2C	44994478	1.000000	0.71417	0.649000	0.29536	0.003000	0.03518	6.042000	0.70996	2.808000	0.96608	0.655000	0.94253	TCG		0.433	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
TESK2	10420	broad.mit.edu	37	1	45811115	45811115	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:45811115G>T	ENST00000372086.3	-	11	1513	c.1113C>A	c.(1111-1113)atC>atA	p.I371I	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.I342I|TESK2_ENST00000538496.1_Silent_p.I288I|TESK2_ENST00000341771.6_Silent_p.I342I	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	371					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I355I(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TACGGGAAAAGATATCTGACT	0.557																																					p.I371I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113A	1						.						54.0	56.0	55.0					1																	45811115		2013	4154	6167	45583702	SO:0001819	synonymous_variant	10420	exon11			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1113C>A	1.37:g.45811115G>T		Somatic		Capture	Illumina HiSeq	Phase_I	45583702	NM_007170	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	CCDS41323.1																																																																																				0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
NASP	4678	broad.mit.edu	37	1	46079809	46079809	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46079809G>A	ENST00000350030.3	+	8	1635	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	NASP_ENST00000372052.4_Silent_p.E150E|NASP_ENST00000537798.1_Silent_p.E452E|NASP_ENST00000402363.3_Silent_p.E518E|NASP_ENST00000351223.3_Silent_p.E177E|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	516	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.E518E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAACCTAGAGCTTGCCTGGG	0.358																																					p.E452E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	1						.						95.0	102.0	100.0					1																	46079809		2203	4300	6503	45852396	SO:0001819	synonymous_variant	4678	exon6			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1548G>A	1.37:g.46079809G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45852396	NM_001195193	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	1.173	-0.640525	0.03557	.	.	ENSG00000132780	ENST00000531612	.	.	.	5.73	-5.88	0.02290	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	-12.962	10.3837	0.44127	0.5854:0.0:0.3247:0.0899	.	.	.	.	N	41	.	.	S	+	2	0	NASP	45852396	1.000000	0.71417	0.855000	0.33649	0.252000	0.25951	0.852000	0.27764	-0.992000	0.03472	-1.839000	0.00587	AGC		0.358	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482	
CCDC17	149483	broad.mit.edu	37	1	46086658	46086658	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46086658G>T	ENST00000528266.1	-	11	1663	c.1516C>A	c.(1516-1518)Cta>Ata	p.L506I	CCDC17_ENST00000343901.2_Missense_Mutation_p.L474I|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000421127.2_Missense_Mutation_p.L497I			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	506								p.L474I(2)		kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CGGCCACTTAGCACCCGCTGA	0.617																																					p.L506I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1516A	1						.						39.0	40.0	39.0					1																	46086658		2203	4300	6503	45859245	SO:0001583	missense	149483	exon11				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1516C>A	1.37:g.46086658G>T	ENSP00000432172:p.Leu506Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45859245	NM_001114938	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750861	0.69533	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.20463	2.07;2.07;2.07	5.72	2.17	0.27698	.	0.000000	0.53938	D	0.000052	T	0.34542	0.0901	L	0.56769	1.78	0.28091	N	0.931805	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.971;0.971	T	0.13098	-1.0522	10	0.54805	T	0.06	-14.436	4.3495	0.11148	0.3944:0.0:0.4589:0.1467	.	506;497;474	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	I	497;474;506	ENSP00000389415:L497I;ENSP00000341451:L474I;ENSP00000432172:L506I	ENSP00000341451:L474I	L	-	1	2	CCDC17	45859245	0.653000	0.27358	0.950000	0.38849	0.892000	0.51952	-0.010000	0.12743	0.124000	0.18369	0.591000	0.81541	CTA		0.617	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500	
MAST2	23139	broad.mit.edu	37	1	46500505	46500505	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46500505C>T	ENST00000361297.2	+	29	4447	c.4164C>T	c.(4162-4164)ctC>ctT	p.L1388L	MAST2_ENST00000372009.2_Silent_p.L1198L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L1388L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCAGGCAACTCTCACGGCCCA	0.612																																					p.L1388L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4164T	1						.						91.0	99.0	96.0					1																	46500505		2066	4195	6261	46273092	SO:0001819	synonymous_variant	23139	exon29			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4164C>T	1.37:g.46500505C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46273092	NM_015112		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.612	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
MAST2	23139	broad.mit.edu	37	1	46500836	46500836	+	Missense_Mutation	SNP	C	C	T	rs200466794		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46500836C>T	ENST00000361297.2	+	29	4778	c.4495C>T	c.(4495-4497)Cgt>Tgt	p.R1499C	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309C	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.R1499C(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGAAGCCATTCGTGAGGTGGA	0.647																																					p.R1499C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4495T	1						.						31.0	35.0	34.0					1																	46500836		2111	4236	6347	46273423	SO:0001583	missense	23139	exon29			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4495C>T	1.37:g.46500836C>T	ENSP00000354671:p.Arg1499Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46273423	NM_015112		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.818260	0.71028	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.68479	-0.22;-0.33	4.56	4.56	0.56223	.	0.209202	0.37715	N	0.001979	T	0.65626	0.2709	L	0.29908	0.895	0.41201	D	0.986379	D;D	0.89917	1.0;1.0	P;P	0.54706	0.759;0.732	T	0.69161	-0.5218	10	0.62326	D	0.03	-4.8552	12.8365	0.57775	0.2037:0.7963:0.0:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	C	1499;1309;186	ENSP00000354671:R1499C;ENSP00000361079:R1309C	ENSP00000354671:R1499C	R	+	1	0	MAST2	46273423	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	3.797000	0.55514	2.534000	0.85438	0.454000	0.30748	CGT		0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
MAST2	23139	broad.mit.edu	37	1	46500978	46500978	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46500978C>A	ENST00000361297.2	+	29	4920	c.4637C>A	c.(4636-4638)cCt>cAt	p.P1546H	MAST2_ENST00000372009.2_Missense_Mutation_p.P1356H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.P1546H(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGAGGATCCTTTCCCGTCC	0.602																																					p.P1546H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4637A	1						.						29.0	34.0	32.0					1																	46500978		2005	4170	6175	46273565	SO:0001583	missense	23139	exon29			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4637C>A	1.37:g.46500978C>A	ENSP00000354671:p.Pro1546His	Somatic		Capture	Illumina HiSeq	Phase_I	46273565	NM_015112		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	c	5.111	0.206183	0.09704	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.61859	0.07;0.07	4.69	4.69	0.59074	.	1.542930	0.04066	N	0.307172	T	0.47097	0.1427	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44081	-0.9351	10	0.59425	D	0.04	-1.555	17.414	0.87494	0.0:1.0:0.0:0.0	.	1356;1546	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1546;1356;233	ENSP00000354671:P1546H;ENSP00000361079:P1356H	ENSP00000354671:P1546H	P	+	2	0	MAST2	46273565	0.000000	0.05858	0.092000	0.20876	0.010000	0.07245	0.446000	0.21694	2.429000	0.82318	0.298000	0.19748	CCT		0.602	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
CYP4B1	1580	broad.mit.edu	37	1	47264904	47264904	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:47264904A>G	ENST00000271153.4	+	1	187	c.151A>G	c.(151-153)Acc>Gcc	p.T51A	CYP4B1_ENST00000371919.4_Missense_Mutation_p.T51A|CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Missense_Mutation_p.T51A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	51					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.T51A(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	AGGGCCTCCCACCCACTGGCT	0.547																																					p.T51A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A151G	1						.						41.0	36.0	38.0					1																	47264904		2203	4300	6503	47037491	SO:0001583	missense	1580	exon1			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.151A>G	1.37:g.47264904A>G	ENSP00000271153:p.Thr51Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47037491	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	A	4.407	0.075252	0.08485	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	T;T;T	0.66995	-0.24;-0.24;-0.24	5.82	4.7	0.59300	.	0.275091	0.34460	N	0.003949	T	0.40347	0.1113	N	0.04746	-0.17	0.23150	N	0.998217	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.19666	0.026;0.006;0.01	T	0.18524	-1.0334	10	0.14656	T	0.56	.	7.7966	0.29150	0.9093:0.0:0.0907:0.0	.	51;51;51	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	A	51	ENSP00000360991:T51A;ENSP00000271153:T51A;ENSP00000360987:T51A	ENSP00000271153:T51A	T	+	1	0	CYP4B1	47037491	0.130000	0.22417	0.036000	0.18154	0.014000	0.08584	2.097000	0.41748	2.222000	0.72286	0.383000	0.25322	ACC		0.547	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
CYP4A22	284541	broad.mit.edu	37	1	47608985	47608985	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:47608985C>A	ENST00000371891.3	+	5	586	c.555C>A	c.(553-555)gtC>gtA	p.V185V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.V185V|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.V185V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	185			V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs113777592). {ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V185V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGGAGGTCTTTCAGCACG	0.542																																					p.V185V	Pancreas(88;1240 1470 2099 14214 37557)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555A	1						.						73.0	67.0	69.0					1																	47608985		2203	4298	6501	47381572	SO:0001819	synonymous_variant	284541	exon5				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.555C>A	1.37:g.47608985C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47381572	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	CCDS30707.1																																																																																				0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	
STIL	6491	broad.mit.edu	37	1	47767292	47767292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:47767292C>A	ENST00000360380.3	-	6	757	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	STIL_ENST00000371877.3_Nonsense_Mutation_p.E132*|STIL_ENST00000396221.2_Nonsense_Mutation_p.E132*|STIL_ENST00000243182.6_Nonsense_Mutation_p.E132*|STIL_ENST00000337817.5_Nonsense_Mutation_p.E132*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	132					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E132*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAACAAAGTTCTTGAGTATGA	0.393																																					p.E132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G394T	1						.						91.0	92.0	92.0					1																	47767292		2203	4300	6503	47539879	SO:0001587	stop_gained	6491	exon5			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.394G>T	1.37:g.47767292C>A	ENSP00000353544:p.Glu132*	Somatic		Capture	Illumina HiSeq	Phase_I	47539879	NM_003035	Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784974	0.90282	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.93	5.93	0.95920	.	0.287887	0.38381	N	0.001706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.0254	20.3363	0.98740	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000243182:E132X	E	-	1	0	STIL	47539879	0.999000	0.42202	0.994000	0.49952	0.094000	0.18550	4.262000	0.58847	2.814000	0.96858	0.563000	0.77884	GAA		0.393	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
CMPK1	51727	broad.mit.edu	37	1	47834243	47834243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:47834243G>T	ENST00000371873.5	+	2	423	c.274G>T	c.(274-276)Gga>Tga	p.G92*	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic									p.G92*(1)		endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						CATTAAAGAAGGAAAGATTGT	0.388																																					p.G92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G274T	1						.						112.0	101.0	105.0					1																	47834243		2203	4300	6503	47606830	SO:0001587	stop_gained	51727	exon2			AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.274G>T	1.37:g.47834243G>T	ENSP00000360939:p.Gly92*	Somatic		Capture	Illumina HiSeq	Phase_I	47606830	NM_016308		Nonsense_Mutation	SNP	ENST00000371873.5	37	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886978	0.97068	.	.	ENSG00000162368	ENST00000371873	.	.	.	5.27	5.27	0.74061	.	0.047032	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5861	18.8828	0.92364	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000360937:G92X	G	+	1	0	CMPK1	47606830	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.400000	0.97290	2.450000	0.82876	0.557000	0.71058	GGA		0.388	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308	
BEND5	79656	broad.mit.edu	37	1	49224790	49224790	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:49224790G>T	ENST00000371833.3	-	3	613	c.527C>A	c.(526-528)gCt>gAt	p.A176D	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	176						Golgi apparatus (GO:0005794)		p.A7D(1)		large_intestine(5)|lung(2)|skin(1)	8						GGGCACCACAGCATCTTCTAG	0.622																																					p.A176D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C527A	1						.						72.0	70.0	71.0					1																	49224790		2203	4300	6503	48997377	SO:0001583	missense	79656	exon3			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.527C>A	1.37:g.49224790G>T	ENSP00000360899:p.Ala176Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48997377	NM_024603	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	CCDS552.2	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330738	0.60853	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.61662	-0.7017	8	.	.	.	-5.1915	19.2764	0.94032	0.0:0.0:1.0:0.0	.	176	Q7L4P6	BEND5_HUMAN	D	176	.	.	A	-	2	0	BEND5	48997377	1.000000	0.71417	0.398000	0.26321	0.635000	0.38103	7.347000	0.79356	2.882000	0.98803	0.655000	0.94253	GCT		0.622	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603	
ELAVL4	1996	broad.mit.edu	37	1	50666606	50666606	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:50666606T>C	ENST00000371823.4	+	7	1123	c.899T>C	c.(898-900)tTt>tCt	p.F300S	ELAVL4_ENST00000371824.1_Missense_Mutation_p.F286S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.F286S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.F305S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.F291S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.F289S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.F303S	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F303S(1)|p.F300S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGTGCATCTTTGTCTACAAC	0.517																																					p.F286S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T857C	1						.						139.0	133.0	135.0					1																	50666606		2203	4300	6503	50439193	SO:0001583	missense	1996	exon7			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.899T>C	1.37:g.50666606T>C	ENSP00000360888:p.Phe300Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50439193	NM_001144774	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.040593	0.93630	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	M	0.91196	3.185	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	0.87578	0.998;0.994;0.998;0.994;0.997;0.998	T	0.70626	-0.4820	10	0.87932	D	0	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	291;286;300;303;286;289	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	S	289;286;303;286;300;305;291	ENSP00000399939:F289S;ENSP00000360892:F286S;ENSP00000349594:F303S;ENSP00000360889:F286S;ENSP00000360888:F300S;ENSP00000360886:F305S;ENSP00000360884:F291S	ENSP00000349594:F303S	F	+	2	0	ELAVL4	50439193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.645000	0.83430	2.270000	0.75569	0.533000	0.62120	TTT		0.517	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
RNF11	26994	broad.mit.edu	37	1	51735722	51735722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:51735722G>T	ENST00000242719.3	+	2	704	c.218G>T	c.(217-219)aGa>aTa	p.R73I	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	73					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.R73I(1)		large_intestine(1)	1						ATAGCTCAAAGAATAGGTCTT	0.403																																					p.R73I												.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	thyroid(1)|large_intestine(1)|central_nervous_system(1)	c.G218T	1						.						67.0	70.0	69.0					1																	51735722		2203	4300	6503	51508310	SO:0001583	missense	26994	exon2			AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.218G>T	1.37:g.51735722G>T	ENSP00000242719:p.Arg73Ile	Somatic		Capture	Illumina HiSeq	Phase_I	51508310	NM_014372	A8KAI2|Q5T7R8	Missense_Mutation	SNP	ENST00000242719.3	37	CCDS556.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452055	0.96223	.	.	ENSG00000123091	ENST00000242719	T	0.20463	2.07	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	L	0.60957	1.885	0.80722	D	1	P	0.43885	0.82	P	0.45881	0.496	T	0.01015	-1.1480	10	0.49607	T	0.09	-1.9919	20.3206	0.98668	0.0:0.0:1.0:0.0	.	73	Q9Y3C5	RNF11_HUMAN	I	73	ENSP00000242719:R73I	ENSP00000242719:R73I	R	+	2	0	RNF11	51508310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.809000	0.96659	0.655000	0.94253	AGA		0.403	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372	
EPS15	2060	broad.mit.edu	37	1	51887524	51887524	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:51887524C>A	ENST00000371733.3	-	13	1143	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.K349N|EPS15_ENST00000396122.4_Missense_Mutation_p.K26N	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	349					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)|p.K349N(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCACATTATTCTTTTCCCTAG	0.383			T	MLL	ALL																																p.K35N			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|central_nervous_system(1)	c.G105T	1						.						140.0	121.0	128.0					1																	51887524		2202	4299	6501	51660112	SO:0001583	missense	2060	exon1			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1047G>T	1.37:g.51887524C>A	ENSP00000360798:p.Lys349Asn	Somatic		Capture	Illumina HiSeq	Phase_I	51660112	NM_001159969	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312233	0.81358	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;D;T	0.84146	1.46;-1.81;0.96	5.35	5.35	0.76521	.	.	.	.	.	D	0.92182	0.7521	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.988;0.999	D	0.90880	0.4753	9	0.38643	T	0.18	.	19.4191	0.94713	0.0:1.0:0.0:0.0	.	349;349;35	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	N	349;349;26	ENSP00000360795:K349N;ENSP00000360798:K349N;ENSP00000379428:K26N	ENSP00000360795:K349N	K	-	3	2	EPS15	51660112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.741000	0.62095	2.669000	0.90835	0.591000	0.81541	AAG		0.383	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
OSBPL9	114883	broad.mit.edu	37	1	52211221	52211221	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52211221G>T	ENST00000428468.1	+	5	334	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Missense_Mutation_p.G134V|OSBPL9_ENST00000371710.3_Missense_Mutation_p.G129V|OSBPL9_ENST00000337809.4_Missense_Mutation_p.G129V|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000453295.1_Missense_Mutation_p.G94V|OSBPL9_ENST00000371714.1_Missense_Mutation_p.G111V|OSBPL9_ENST00000530544.1_Missense_Mutation_p.G43V|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000361556.5_Missense_Mutation_p.G14V|OSBPL9_ENST00000473207.2_3'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	111					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.G134V(2)|p.G14V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TTGGATTCAGGATTTGTTCCT	0.328																																					p.G111V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G332T	1						.						102.0	100.0	101.0					1																	52211221		2201	4299	6500	51983809	SO:0001583	missense	114883	exon5			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.332G>T	1.37:g.52211221G>T	ENSP00000407168:p.Gly111Val	Somatic		Capture	Illumina HiSeq	Phase_I	51983809	NM_024586	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849057	0.71603	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000361556	T;T;T;T;T	0.15256	2.44;2.64;2.64;2.48;2.44	4.76	4.76	0.60689	.	0.155325	0.56097	D	0.000023	T	0.37652	0.1011	M	0.67397	2.05	0.80722	D	1	D;D;D;P;P	0.76494	0.999;0.96;0.96;0.951;0.51	D;P;P;P;B	0.64144	0.922;0.626;0.611;0.503;0.101	T	0.04752	-1.0929	10	0.34782	T	0.22	-9.517	16.7087	0.85379	0.0:0.0:1.0:0.0	.	94;14;140;111;129	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	V	111;129;129;134;111;94;43;14	ENSP00000360779:G111V;ENSP00000360775:G129V;ENSP00000337265:G129V;ENSP00000412733:G134V;ENSP00000407168:G111V	ENSP00000337265:G129V	G	+	2	0	OSBPL9	51983809	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.468000	0.73551	2.480000	0.83734	0.557000	0.71058	GGA		0.328	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4		
OSBPL9	114883	broad.mit.edu	37	1	52255243	52255243	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52255243A>G	ENST00000428468.1	+	0	2893				NRD1_ENST00000354831.7_Silent_p.V1153V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.V1021V|NRD1_ENST00000352171.7_Silent_p.V1085V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.V1153V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TACTCACATGAACGCTGAGCA	0.428																																					p.V1085V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3255C	1						.						135.0	127.0	130.0					1																	52255243		2203	4300	6503	52027831	SO:0001628	intergenic_variant	4898	exon30			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52255243A>G		Somatic		Capture	Illumina HiSeq	Phase_I	52027831	NM_001101662	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	A	8.488	0.861326	0.17178	.	.	ENSG00000078618	ENST00000440943	.	.	.	5.22	0.223	0.15292	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	-13.8964	0.6068	0.00754	0.3407:0.2276:0.2615:0.1703	.	.	.	.	P	472	.	.	S	-	1	0	NRD1	52027831	0.845000	0.29573	0.996000	0.52242	0.803000	0.45373	-0.041000	0.12084	0.141000	0.18875	0.528000	0.53228	TCA		0.428	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4		
ZFYVE9	9372	broad.mit.edu	37	1	52705016	52705016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52705016G>A	ENST00000371591.1	+	3	2058	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D643N|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D643N	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	643					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.D643N(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCTAATGTCGATACAAATGG	0.388																																					p.D643N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1927A	1						.						104.0	103.0	103.0					1																	52705016		2203	4300	6503	52477604	SO:0001583	missense	9372	exon4			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1927G>A	1.37:g.52705016G>A	ENSP00000360647:p.Asp643Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52477604	NM_004799	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476077	0.44044	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54866	1.07;0.55;1.09;1.09	5.08	5.08	0.68730	.	0.084250	0.48767	D	0.000178	T	0.57961	0.2089	L	0.27053	0.805	0.33100	D	0.539057	D;P;D	0.71674	0.998;0.622;0.996	P;B;P	0.59115	0.852;0.067;0.69	T	0.64415	-0.6413	10	0.45353	T	0.12	.	19.0361	0.92978	0.0:0.0:1.0:0.0	.	643;643;643	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	N	643	ENSP00000349737:D643N;ENSP00000355358:D643N;ENSP00000287727:D643N;ENSP00000360647:D643N	ENSP00000287727:D643N	D	+	1	0	ZFYVE9	52477604	1.000000	0.71417	0.980000	0.43619	0.497000	0.33675	4.769000	0.62300	2.805000	0.96524	0.655000	0.94253	GAT		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ZFYVE9	9372	broad.mit.edu	37	1	52761568	52761568	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52761568T>G	ENST00000371591.1	+	11	3383	c.3252T>G	c.(3250-3252)ctT>ctG	p.L1084L	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Splice_Site_p.L1084L|ZFYVE9_ENST00000357206.2_Splice_Site_p.L1025L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1084					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.L1084L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTCCATAGTTTATCCATGCC	0.323																																					p.L1084L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3252G	1						.						146.0	135.0	138.0					1																	52761568		2203	4300	6503	52534156	SO:0001630	splice_region_variant	9372	exon12			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3251-1T>G	1.37:g.52761568T>G		Somatic		Capture	Illumina HiSeq	Phase_I	52534156	NM_004799	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	CCDS563.1																																																																																				0.323	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Silent
CC2D1B	200014	broad.mit.edu	37	1	52822076	52822076	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52822076G>A	ENST00000371586.2	-	17	2073	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Silent_p.G20G|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.G639G	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	645						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G645G(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCCACGTTGCCCTGGTGCA	0.577																																					p.G645G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1935T	1						.						127.0	127.0	127.0					1																	52822076		2203	4300	6503	52594664	SO:0001819	synonymous_variant	200014	exon17			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1935C>T	1.37:g.52822076G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52594664	NM_032449	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425436	0.25639	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	5.09	3.21	0.36854	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47459	-0.9116	4	.	.	.	-14.9335	5.8123	0.18473	0.0889:0.0:0.5666:0.3444	.	.	.	.	V	426;559	.	.	A	-	2	0	CC2D1B	52594664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.578000	0.23773	0.724000	0.32296	0.561000	0.74099	GCA		0.577	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
ZCCHC11	23318	broad.mit.edu	37	1	52924120	52924120	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52924120C>T	ENST00000371544.3	-	20	3585	c.3323G>A	c.(3322-3324)cGa>cAa	p.R1108Q	ZCCHC11_ENST00000257177.4_Splice_Site_p.R1108Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1108					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R1108Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AATGTCACATCGCTAAAAAAC	0.383																																					p.R1108Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3323A	1						.						84.0	82.0	83.0					1																	52924120		2203	4300	6503	52696708	SO:0001630	splice_region_variant	23318	exon20			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3322-1G>A	1.37:g.52924120C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52696708	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121407	0.56613	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642	T;T;T	0.53206	0.63;0.63;0.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	P	0.56563	0.801	T	0.49560	-0.8927	10	0.41790	T	0.15	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	1108	Q5TAX3	TUT4_HUMAN	Q	1108;1108;1037	ENSP00000257177:R1108Q;ENSP00000360599:R1108Q;ENSP00000433486:R1037Q	ENSP00000257177:R1108Q	R	-	2	0	ZCCHC11	52696708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.566000	0.60843	2.720000	0.93068	0.557000	0.71058	CGA		0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	Missense_Mutation
ZCCHC11	23318	broad.mit.edu	37	1	52961119	52961119	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52961119C>A	ENST00000371544.3	-	6	1508	c.1246G>T	c.(1246-1248)Gat>Tat	p.D416Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D416Y|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	416					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.D416Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AATTTTATATCTATATTAACA	0.313																																					p.D416Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246T	1						.						46.0	50.0	49.0					1																	52961119		2203	4292	6495	52733707	SO:0001583	missense	23318	exon6			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1246G>T	1.37:g.52961119C>A	ENSP00000360599:p.Asp416Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52733707	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631819	0.87660	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.937;0.999	D	0.85139	0.0979	10	0.02654	T	1	.	19.4621	0.94921	0.0:1.0:0.0:0.0	.	175;416;416	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	Y	416;416;416;175	ENSP00000257177:D416Y;ENSP00000360599:D416Y;ENSP00000433486:D416Y;ENSP00000435256:D175Y	ENSP00000257177:D416Y	D	-	1	0	ZCCHC11	52733707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.357000	0.73051	2.704000	0.92352	0.655000	0.94253	GAT		0.313	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZCCHC11	23318	broad.mit.edu	37	1	52962691	52962691	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52962691C>T	ENST00000371544.3	-	5	1426	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	ZCCHC11_ENST00000257177.4_Silent_p.T388T|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	388					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.T388T(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTAAAAATGTCGTTATAACCT	0.338																																					p.T388T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1164A	1						.						77.0	75.0	76.0					1																	52962691		2203	4300	6503	52735279	SO:0001819	synonymous_variant	23318	exon5			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1164G>A	1.37:g.52962691C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52735279	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1																																																																																				0.338	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZCCHC11	23318	broad.mit.edu	37	1	52981601	52981601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52981601C>A	ENST00000371544.3	-	3	1106	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E282*|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E282*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	282					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E282*(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTAAGCGTTCTTCTGCTTGT	0.383																																					p.E282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G844T	1						.						144.0	132.0	136.0					1																	52981601		2202	4300	6502	52754189	SO:0001587	stop_gained	23318	exon3			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.844G>T	1.37:g.52981601C>A	ENSP00000360599:p.Glu282*	Somatic		Capture	Illumina HiSeq	Phase_I	52754189	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089876	0.97271	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	.	.	.	X	282;282;282;41;282	.	ENSP00000257177:E282X	E	-	1	0	ZCCHC11	52754189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	2.474000	0.83562	0.655000	0.94253	GAA		0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZCCHC11	23318	broad.mit.edu	37	1	52991241	52991241	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52991241C>T	ENST00000371544.3	-	2	974	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D238N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.D238N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	238					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.D238N(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTACTTAAATCGTCCGATACG	0.343																																					p.D238N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	1						.						80.0	77.0	78.0					1																	52991241		2203	4300	6503	52763829	SO:0001583	missense	23318	exon2			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.712G>A	1.37:g.52991241C>T	ENSP00000360599:p.Asp238Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52763829	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312215	0.60414	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.56	4.56	0.56223	.	0.519597	0.18234	N	0.147468	D	0.89213	0.6651	L	0.51422	1.61	0.33139	D	0.544102	D;P;D;P	0.89917	1.0;0.847;0.98;0.826	D;B;P;B	0.81914	0.995;0.229;0.581;0.238	D	0.90078	0.4168	10	0.44086	T	0.13	.	13.0082	0.58718	0.0:1.0:0.0:0.0	.	238;238;238;238	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	238	ENSP00000257177:D238N;ENSP00000360599:D238N;ENSP00000433486:D238N;ENSP00000348063:D238N	ENSP00000257177:D238N	D	-	1	0	ZCCHC11	52763829	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.612000	0.46343	2.528000	0.85240	0.650000	0.86243	GAT		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZCCHC11	23318	broad.mit.edu	37	1	52991700	52991700	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52991700C>A	ENST00000371544.3	-	2	515	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D85Y|ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.D85Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	85					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.D85Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AACCCCAAATCTTTAGGACCT	0.343																																					p.D85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253T	1						.						121.0	126.0	124.0					1																	52991700		2203	4300	6503	52764288	SO:0001583	missense	23318	exon2			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.253G>T	1.37:g.52991700C>A	ENSP00000360599:p.Asp85Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52764288	NM_015269	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390357	0.62066	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809;ENST00000470626	T;T;T	0.55234	0.55;0.53;0.53	5.51	4.59	0.56863	.	0.174039	0.40302	N	0.001125	T	0.65176	0.2666	L	0.59436	1.845	0.35482	D	0.798283	D;D;D;D	0.89917	1.0;0.996;0.999;0.996	D;P;D;P	0.73380	0.972;0.875;0.98;0.823	T	0.73129	-0.4080	10	0.87932	D	0	.	9.8056	0.40791	0.0:0.8515:0.0:0.1485	.	85;85;85;85	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	Y	85	ENSP00000257177:D85Y;ENSP00000360599:D85Y;ENSP00000433486:D85Y	ENSP00000257177:D85Y	D	-	1	0	ZCCHC11	52764288	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.544000	0.45761	2.756000	0.94617	0.655000	0.94253	GAT		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZYG11B	79699	broad.mit.edu	37	1	53245657	53245657	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:53245657A>C	ENST00000294353.6	+	4	1229	c.1084A>C	c.(1084-1086)Att>Ctt	p.I362L	ZYG11B_ENST00000443756.2_Missense_Mutation_p.I362L|ZYG11B_ENST00000545132.1_Missense_Mutation_p.I362L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	362								p.I362L(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AAAGCCAGAAATTTTAAAGGT	0.348																																					p.I362L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1084C	1						.						92.0	94.0	93.0					1																	53245657		2203	4300	6503	53018245	SO:0001583	missense	79699	exon4			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1084A>C	1.37:g.53245657A>C	ENSP00000294353:p.Ile362Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53018245	NM_024646	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426532	0.62733	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.48522	0.81;3.24;0.81	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.044559	0.85682	D	0.000000	T	0.43033	0.1229	L	0.52364	1.645	0.44627	D	0.997608	B;B	0.25667	0.131;0.008	B;B	0.21151	0.033;0.014	T	0.26677	-1.0096	10	0.22109	T	0.4	.	16.0584	0.80820	1.0:0.0:0.0:0.0	.	362;362	B4DK95;Q9C0D3	.;ZY11B_HUMAN	L	362	ENSP00000400522:I362L;ENSP00000441315:I362L;ENSP00000294353:I362L	ENSP00000294353:I362L	I	+	1	0	ZYG11B	53018245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.179000	0.77665	2.184000	0.69523	0.528000	0.53228	ATT		0.348	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	
PODN	127435	broad.mit.edu	37	1	53546514	53546514	+	Missense_Mutation	SNP	G	G	A	rs534137326	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:53546514G>A	ENST00000312553.5	+	9	1778	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.D572N|PODN_ENST00000395871.2_Missense_Mutation_p.D449N	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	543					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.D591N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAATGCCTTCGACTCCACGCC	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0				p.D572N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	1						.						66.0	64.0	65.0					1																	53546514		2203	4300	6503	53319102	SO:0001583	missense	127435	exon10			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1771G>A	1.37:g.53546514G>A	ENSP00000308315:p.Asp591Asn	Somatic		Capture	Illumina HiSeq	Phase_I	53319102	NM_001199081	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862047	0.51482	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.56611	0.45;0.45;0.45	4.41	3.47	0.39725	.	0.487974	0.21915	N	0.067243	T	0.42720	0.1215	N	0.20685	0.6	0.34462	D	0.701887	B;D;P	0.57899	0.108;0.981;0.757	B;P;B	0.48677	0.023;0.586;0.248	T	0.49214	-0.8963	10	0.15499	T	0.54	.	14.5246	0.67878	0.0:0.1477:0.8523:0.0	.	449;572;591	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	N	572;449;591	ENSP00000360555:D572N;ENSP00000379212:D449N;ENSP00000308315:D591N	ENSP00000308315:D591N	D	+	1	0	PODN	53319102	1.000000	0.71417	0.915000	0.36163	0.804000	0.45430	3.076000	0.50081	1.159000	0.42565	0.650000	0.86243	GAC		0.617	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
NDC1	55706	broad.mit.edu	37	1	54266421	54266421	+	Silent	SNP	C	C	T	rs145025749		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:54266421C>T	ENST00000371429.3	-	11	1765	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	NDC1_ENST00000537333.1_Silent_p.T54T|NDC1_ENST00000234725.8_Silent_p.T274T|NDC1_ENST00000540001.1_Silent_p.T389T	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	389					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.T389T(1)									CTCTCCCATTCGTAGCAGCAG	0.398																																					p.T389T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1167A	1						.	C	,	0,4406		0,0,2203	110.0	107.0	108.0		1047,1167	-10.7	0.1	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMEM48	NM_001168551.1,NM_018087.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	349/635,389/675	54266421	1,13005	2203	4300	6503	54039009	SO:0001819	synonymous_variant	55706	exon11			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1167G>A	1.37:g.54266421C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54039009	NM_018087	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	CCDS583.1																																																																																				0.398	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087	
LDLRAD1	388633	broad.mit.edu	37	1	54477855	54477855	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:54477855T>G	ENST00000371360.1	-	4	318	c.301A>C	c.(301-303)Acc>Ccc	p.T101P	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.T62P|LDLRAD1_ENST00000371362.3_Intron|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.T58P	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	101	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)		p.T101P(1)		large_intestine(3)|prostate(1)|skin(3)	7						TGGGTACAGGTGCGAACGCCA	0.602																																					p.T101P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A301C	1						.						132.0	101.0	111.0					1																	54477855		2203	4300	6503	54250443	SO:0001583	missense	388633	exon4				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.301A>C	1.37:g.54477855T>G	ENSP00000360411:p.Thr101Pro	Somatic		Capture	Illumina HiSeq	Phase_I	54250443	NM_001010978	A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	T	9.296	1.051933	0.19827	.	.	ENSG00000203985	ENST00000371360;ENST00000545928;ENST00000420619	D;D;D	0.95588	-3.75;-3.69;-3.69	3.97	2.84	0.33178	.	0.371669	0.22816	N	0.055289	D	0.91133	0.7208	L	0.44542	1.39	0.26169	N	0.979893	P;P	0.49559	0.523;0.925	B;B	0.42422	0.163;0.387	D	0.85718	0.1323	10	0.87932	D	0	-13.6829	4.2499	0.10689	0.0:0.1085:0.2052:0.6862	.	58;101	B7ZME3;Q5T700	.;LRAD1_HUMAN	P	101;58;62	ENSP00000360411:T101P;ENSP00000445871:T58P;ENSP00000411017:T62P	ENSP00000360411:T101P	T	-	1	0	LDLRAD1	54250443	0.279000	0.24239	0.979000	0.43373	0.154000	0.21943	0.060000	0.14342	0.692000	0.31613	0.533000	0.62120	ACC		0.602	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978	
DHCR24	1718	broad.mit.edu	37	1	55331069	55331069	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:55331069C>A	ENST00000371269.3	-	6	1025	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Missense_Mutation_p.E268D	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	309					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.E309D(1)		large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TCAGATAGTTCTCCACATGCT	0.527																																					p.E309D	Pancreas(39;516 1021 24601 30715 32780)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	1						.						158.0	131.0	140.0					1																	55331069		2203	4300	6503	55103657	SO:0001583	missense	1718	exon6			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.927G>T	1.37:g.55331069C>A	ENSP00000360316:p.Glu309Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55103657	NM_014762	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640317	0.87859	.	.	ENSG00000116133	ENST00000371269;ENST00000535035	D;D	0.93307	-3.19;-3.2	5.07	4.15	0.48705	.	0.102064	0.64402	D	0.000003	D	0.94427	0.8207	M	0.78049	2.395	0.80722	D	1	D;D	0.58620	0.969;0.983	P;P	0.55923	0.663;0.787	D	0.92324	0.5868	10	0.23302	T	0.38	-36.8533	10.0193	0.42033	0.0:0.8454:0.0:0.1546	.	268;309	B7Z817;Q15392	.;DHC24_HUMAN	D	309;268	ENSP00000360316:E309D;ENSP00000440191:E268D	ENSP00000360316:E309D	E	-	3	2	DHCR24	55103657	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.693000	0.47027	1.261000	0.44149	0.655000	0.94253	GAG		0.527	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762	
USP24	23358	broad.mit.edu	37	1	55537534	55537534	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:55537534A>G	ENST00000294383.6	-	67	7752	c.7753T>C	c.(7753-7755)Tcg>Ccg	p.S2585P	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Missense_Mutation_p.S2425P	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2585					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S2585P(1)|p.S2502P(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTACTCTCCGACCCATTACTG	0.478											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S2585P												USP24,kidney,NS,Substitution - coding silent,+2 	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7753C	1						.						104.0	104.0	104.0					1																	55537534		2072	4210	6282	55310122	SO:0001583	missense	23358	exon67			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7753T>C	1.37:g.55537534A>G	ENSP00000294383:p.Ser2585Pro	Somatic	1008	Capture	Illumina HiSeq	Phase_I	55310122	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	18.90	3.722471	0.68959	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02421	4.3;4.31	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000018	T	0.07143	0.0181	L	0.29908	0.895	0.58432	D	0.999999	D	0.54601	0.967	D	0.63033	0.91	T	0.51857	-0.8652	10	0.32370	T	0.25	.	14.1063	0.65091	1.0:0.0:0.0:0.0	.	2425	B7WPF4	.	P	2585;2425	ENSP00000294383:S2585P;ENSP00000385700:S2425P	ENSP00000294383:S2585P	S	-	1	0	USP24	55310122	1.000000	0.71417	0.985000	0.45067	0.863000	0.49368	8.536000	0.90627	1.924000	0.55735	0.533000	0.62120	TCG		0.478	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PRKAA2	5563	broad.mit.edu	37	1	57159484	57159484	+	Silent	SNP	C	C	T	rs367787992		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:57159484C>T	ENST00000371244.4	+	5	588	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.C174C(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAACTAGTTGCGGATCTCCAA	0.308																																					p.C174C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C522T	1						.	C		0,4406		0,0,2203	133.0	142.0	139.0		522	1.8	1.0	1		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRKAA2	NM_006252.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/553	57159484	1,13005	2203	4300	6503	56932072	SO:0001819	synonymous_variant	5563	exon5			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.522C>T	1.37:g.57159484C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56932072	NM_006252	Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	CCDS605.1																																																																																				0.308	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
C1orf168	199920	broad.mit.edu	37	1	57185894	57185894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:57185894C>T	ENST00000343433.6	-	18	2163	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	695								p.D695N(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCGGTGGTATCAATGACTTCC	0.303																																					p.D695N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2083A	1						.						76.0	72.0	73.0					1																	57185894		2202	4298	6500	56958482	SO:0001583	missense	199920	exon18			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2083G>A	1.37:g.57185894C>T	ENSP00000345972:p.Asp695Asn	Somatic		Capture	Illumina HiSeq	Phase_I	56958482	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351867	0.82132	.	.	ENSG00000187889	ENST00000343433	T	0.32753	1.44	4.85	4.85	0.62838	Src homology-3 domain (2);	0.000000	0.56097	D	0.000030	T	0.55081	0.1898	M	0.68317	2.08	0.45464	D	0.998436	D	0.89917	1.0	D	0.91635	0.999	T	0.57585	-0.7786	10	0.72032	D	0.01	-22.7486	17.2486	0.87035	0.0:1.0:0.0:0.0	.	695	Q5VWT5	CA168_HUMAN	N	695	ENSP00000345972:D695N	ENSP00000345972:D695N	D	-	1	0	C1orf168	56958482	1.000000	0.71417	0.996000	0.52242	0.827000	0.46813	4.360000	0.59455	2.675000	0.91044	0.655000	0.94253	GAT		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
C8A	731	broad.mit.edu	37	1	57372354	57372354	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:57372354G>T	ENST00000361249.3	+	8	1207	c.1111G>T	c.(1111-1113)Gat>Tat	p.D371Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	371	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.D371Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TACCAGCAGAGATATCACGAC	0.388																																					p.D371Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111T	1						.						153.0	150.0	151.0					1																	57372354		2203	4300	6503	57144942	SO:0001583	missense	731	exon8			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1111G>T	1.37:g.57372354G>T	ENSP00000354458:p.Asp371Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57144942	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.030042	0.35797	.	.	ENSG00000157131	ENST00000361249	D	0.86097	-2.07	4.87	2.96	0.34315	Membrane attack complex component/perforin (MACPF) domain (3);	0.788155	0.12690	N	0.447270	D	0.88190	0.6370	M	0.83223	2.63	0.09310	N	1	P	0.52577	0.954	P	0.51229	0.663	T	0.78924	-0.2012	10	0.66056	D	0.02	-9.5859	7.0209	0.24914	0.0889:0.0:0.7396:0.1715	.	371	P07357	CO8A_HUMAN	Y	371	ENSP00000354458:D371Y	ENSP00000354458:D371Y	D	+	1	0	C8A	57144942	0.078000	0.21339	0.007000	0.13788	0.007000	0.05969	1.590000	0.36654	0.747000	0.32809	0.561000	0.74099	GAT		0.388	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
DAB1	1600	broad.mit.edu	37	1	57602245	57602245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:57602245C>A	ENST00000371231.1	-	3	311	c.277G>T	c.(277-279)Gga>Tga	p.G93*	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Nonsense_Mutation_p.G93*|DAB1_ENST00000371234.4_Nonsense_Mutation_p.G93*|DAB1_ENST00000439789.2_Nonsense_Mutation_p.G93*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.G93*|DAB1_ENST00000371230.1_Nonsense_Mutation_p.G93*|DAB1_ENST00000371236.2_Nonsense_Mutation_p.G93*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	93	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.G93*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATTTTGATTCCTCCAAAGGAG	0.393																																					p.G93X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G277T	1						.						105.0	102.0	103.0					1																	57602245		2203	4300	6503	57374833	SO:0001587	stop_gained	1600	exon6			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.277G>T	1.37:g.57602245C>A	ENSP00000360275:p.Gly93*	Somatic		Capture	Illumina HiSeq	Phase_I	57374833	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Nonsense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	40	8.051457	0.98629	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	.	.	.	5.96	5.96	0.96718	.	0.096535	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.8378	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000329120:G93X	G	-	1	0	DAB1	57374833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GGA		0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
OMA1	115209	broad.mit.edu	37	1	58946769	58946769	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:58946769C>T	ENST00000371226.3	-	9	1556	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	481					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.T481T(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAATGCTTCGTGCTGAGTT	0.333																																					p.T481T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1443A	1						.						136.0	128.0	131.0					1																	58946769		2203	4300	6503	58719357	SO:0001819	synonymous_variant	115209	exon9			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1443G>A	1.37:g.58946769C>T		Somatic		Capture	Illumina HiSeq	Phase_I	58719357	NM_145243	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Silent	SNP	ENST00000371226.3	37	CCDS608.1																																																																																				0.333	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
HOOK1	51361	broad.mit.edu	37	1	60328469	60328469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:60328469C>T	ENST00000371208.3	+	16	1803	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C	HOOK1_ENST00000395561.2_Missense_Mutation_p.R474C|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	516	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R516C(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAGCAAAGAGCGTATTAGAGA	0.373																																					p.R516C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1546T	1						.						114.0	116.0	115.0					1																	60328469		2203	4300	6503	60101057	SO:0001583	missense	51361	exon16			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1546C>T	1.37:g.60328469C>T	ENSP00000360252:p.Arg516Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60101057	NM_015888	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156176	0.78114	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24151	1.87;1.87	5.64	4.71	0.59529	.	0.151863	0.64402	D	0.000016	T	0.50292	0.1607	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.53809	-0.8386	10	0.87932	D	0	.	15.4857	0.75564	0.0:0.9302:0.0:0.0698	.	516	Q9UJC3	HOOK1_HUMAN	C	516;474	ENSP00000360252:R516C;ENSP00000378928:R474C	ENSP00000360252:R516C	R	+	1	0	HOOK1	60101057	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.781000	0.38644	2.807000	0.96579	0.650000	0.86243	CGT		0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
NFIA	4774	broad.mit.edu	37	1	61848939	61848939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:61848939C>T	ENST00000403491.3	+	7	1461	c.977C>T	c.(976-978)tCg>tTg	p.S326L	NFIA_ENST00000371184.2_Missense_Mutation_p.S197L|NFIA_ENST00000407417.3_Missense_Mutation_p.S318L|NFIA_ENST00000371191.1_Missense_Mutation_p.S349L|NFIA_ENST00000371189.4_Missense_Mutation_p.S371L|NFIA_ENST00000371185.2_Missense_Mutation_p.S304L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.S326L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	326					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S326L(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTGAAGAAGTCGGAGAAGTCT	0.493																																					p.S371L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112T	1						.						164.0	151.0	156.0					1																	61848939		2203	4300	6503	61621527	SO:0001583	missense	4774	exon8			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.977C>T	1.37:g.61848939C>T	ENSP00000384523:p.Ser326Leu	Somatic		Capture	Illumina HiSeq	Phase_I	61621527	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323324	0.81580	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	L	0.40543	1.245	0.58432	D	0.999999	D;P;P;P	0.69078	0.997;0.913;0.913;0.893	D;P;P;P	0.69479	0.964;0.651;0.905;0.519	T	0.57791	-0.7750	10	0.72032	D	0.01	-15.4209	20.2723	0.98479	0.0:1.0:0.0:0.0	.	371;349;326;326	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	L	349;318;371;326;326;304;197	ENSP00000360233:S349L;ENSP00000384680:S318L;ENSP00000360231:S371L;ENSP00000384523:S326L;ENSP00000360227:S304L;ENSP00000360226:S197L	ENSP00000360226:S197L	S	+	2	0	NFIA	61621527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.860000	0.62961	2.793000	0.96121	0.563000	0.77884	TCG		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
INADL	10207	broad.mit.edu	37	1	62232067	62232067	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:62232067G>A	ENST00000371158.2	+	4	420	c.306G>A	c.(304-306)tcG>tcA	p.S102S	INADL_ENST00000316485.6_Silent_p.S102S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	102					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S102S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTAATAACTCGACTGTATCTG	0.418																																					p.S102S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	1						.						122.0	118.0	119.0					1																	62232067		2203	4300	6503	62004655	SO:0001819	synonymous_variant	10207	exon4			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.306G>A	1.37:g.62232067G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62004655	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.418	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
L1TD1	54596	broad.mit.edu	37	1	62672582	62672582	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:62672582G>T	ENST00000498273.1	+	3	577	c.282G>T	c.(280-282)gaG>gaT	p.E94D		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	94								p.E94D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agaattcaGAGAACTCCAGTA	0.368																																					p.E94D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282T	1						.						47.0	54.0	52.0					1																	62672582		2187	4290	6477	62445170	SO:0001583	missense	54596	exon4			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.282G>T	1.37:g.62672582G>T	ENSP00000419901:p.Glu94Asp	Somatic		Capture	Illumina HiSeq	Phase_I	62445170	NM_001164835	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310027	0.23821	.	.	ENSG00000240563	ENST00000498273	T	0.18810	2.19	1.81	-3.62	0.04543	.	.	.	.	.	T	0.10078	0.0247	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37731	-0.9693	9	0.18276	T	0.48	.	6.3115	0.21166	0.1542:0.6107:0.2351:0.0	.	94	Q5T7N2	LITD1_HUMAN	D	94	ENSP00000419901:E94D	ENSP00000419901:E94D	E	+	3	2	L1TD1	62445170	0.000000	0.05858	0.001000	0.08648	0.421000	0.31385	-0.797000	0.04570	-1.021000	0.03350	0.313000	0.20887	GAG		0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
KANK4	163782	broad.mit.edu	37	1	62718830	62718830	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:62718830A>G	ENST00000371153.4	-	8	2969	c.2591T>C	c.(2590-2592)aTc>aCc	p.I864T	KANK4_ENST00000317477.4_Missense_Mutation_p.I2T|KANK4_ENST00000371150.1_Missense_Mutation_p.I220T|KANK4_ENST00000354381.3_Missense_Mutation_p.I236T	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	864						cytoplasm (GO:0005737)		p.I864T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CAAGGGAGTGATCATTACGGC	0.522																																					p.I864T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2591C	1						.						163.0	156.0	158.0					1																	62718830		2203	4300	6503	62491418	SO:0001583	missense	163782	exon8			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2591T>C	1.37:g.62718830A>G	ENSP00000360195:p.Ile864Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62491418	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626624	0.87560	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.64438	-0.1;0.69;-0.1;-0.1	5.16	5.16	0.70880	Ankyrin repeat-containing domain (4);	0.000000	0.38959	N	0.001517	T	0.71056	0.3295	L	0.39467	1.215	0.45330	D	0.998325	D;D	0.62365	0.96;0.991	P;D	0.67725	0.801;0.953	T	0.74447	-0.3662	10	0.87932	D	0	-23.5948	15.1628	0.72798	1.0:0.0:0.0:0.0	.	236;864	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	T	864;2;236;220	ENSP00000360195:I864T;ENSP00000321161:I2T;ENSP00000346352:I236T;ENSP00000360192:I220T	ENSP00000321161:I2T	I	-	2	0	KANK4	62491418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.917000	0.92751	2.177000	0.69029	0.533000	0.62120	ATC		0.522	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
DOCK7	85440	broad.mit.edu	37	1	62939678	62939678	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:62939678G>T	ENST00000340370.5	-	47	6111	c.6094C>A	c.(6094-6096)Ctc>Atc	p.L2032I	DOCK7_ENST00000251157.5_Missense_Mutation_p.L2052I|DOCK7_ENST00000489185.1_5'Flank	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2063	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.L2032I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTAAAGCAGAGTCGCAGTTTA	0.383																																					p.L2032I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6094A	1						.						53.0	58.0	56.0					1																	62939678		2203	4300	6503	62712266	SO:0001583	missense	85440	exon47				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6094C>A	1.37:g.62939678G>T	ENSP00000340742:p.Leu2032Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62712266	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.051824|4.051824	0.75960|0.75960	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.17691|.	2.26;2.26|.	5.62|5.62	4.65|4.65	0.58169|0.58169	.|.	0.058961|.	0.64402|.	D|.	0.000001|.	T|T	0.75561|0.75561	0.3866|0.3866	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.24043|.	0.011;0.096;0.009;0.005;0.096;0.049|.	B;B;B;B;B;B|.	0.35607|.	0.11;0.159;0.035;0.024;0.159;0.206|.	T|T	0.76375|0.76375	-0.2982|-0.2982	10|5	0.62326|.	D|.	0.03|.	.|.	15.3267|15.3267	0.74168|0.74168	0.0:0.0:0.8596:0.1404|0.0:0.0:0.8596:0.1404	.|.	2063;2052;2032;2021;2023;2054|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	I|N	2063;2052;2032;793|1225	ENSP00000251157:L2052I;ENSP00000340742:L2032I|.	ENSP00000251157:L2052I|.	L|T	-|-	1|2	0|0	DOCK7|DOCK7	62712266|62712266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.599000|5.599000	0.67592|0.67592	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	CTC|ACT		0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
ALG6	29929	broad.mit.edu	37	1	63879738	63879738	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:63879738G>T	ENST00000371108.4	+	10	1128	c.823G>T	c.(823-825)Gta>Tta	p.V275L	ALG6_ENST00000263440.4_Missense_Mutation_p.V277L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	275					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.V275L(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TAAGGATAAAGTAGCCAATAT	0.308																																					p.V275L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G823T	1						.						89.0	93.0	91.0					1																	63879738		2203	4298	6501	63652326	SO:0001583	missense	29929	exon10			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.823G>T	1.37:g.63879738G>T	ENSP00000360149:p.Val275Leu	Somatic		Capture	Illumina HiSeq	Phase_I	63652326	NM_013339	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020359	0.75275	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.84944	-1.92;-1.92	4.43	3.5	0.40072	.	0.202894	0.41194	D	0.000931	D	0.84009	0.5378	M	0.91300	3.195	0.80722	D	1	B;P	0.37441	0.377;0.595	B;B	0.43575	0.146;0.424	T	0.83291	-0.0033	10	0.17369	T	0.5	-10.9633	12.9884	0.58604	0.0808:0.0:0.9192:0.0	.	74;277	B4DHV8;A2A2G4	.;.	L	275;277;74	ENSP00000360149:V275L;ENSP00000263440:V277L	ENSP00000263440:V277L	V	+	1	0	ALG6	63652326	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	8.825000	0.92029	0.940000	0.37473	0.655000	0.94253	GTA		0.308	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339	
UBE2U	148581	broad.mit.edu	37	1	64671387	64671387	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:64671387G>T	ENST00000371076.3	+	2	376	c.132G>T	c.(130-132)caG>caT	p.Q44H		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	44					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.Q44H(1)		large_intestine(3)|lung(2)|skin(1)	6						AAGGTCTACAGAATTCAGTTT	0.318																																					p.Q44H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G132T	1						.						108.0	113.0	111.0					1																	64671387		2203	4297	6500	64443975	SO:0001583	missense	148581	exon2			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.132G>T	1.37:g.64671387G>T	ENSP00000360116:p.Gln44His	Somatic		Capture	Illumina HiSeq	Phase_I	64443975	NM_152489	Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659051	0.29515	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.43688	0.94;0.94	5.35	-0.0106	0.13996	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.690667	0.12486	N	0.464648	T	0.30823	0.0777	L	0.49256	1.55	0.09310	N	1	D	0.76494	0.999	P	0.61658	0.892	T	0.06197	-1.0840	10	0.46703	T	0.11	.	4.6811	0.12736	0.259:0.3001:0.4409:0.0	.	44	Q5VVX9	UBE2U_HUMAN	H	44	ENSP00000360117:Q44H;ENSP00000360116:Q44H	ENSP00000360116:Q44H	Q	+	3	2	UBE2U	64443975	0.010000	0.17322	0.002000	0.10522	0.352000	0.29268	0.164000	0.16542	-0.028000	0.13850	-0.225000	0.12378	CAG		0.318	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	
CACHD1	57685	broad.mit.edu	37	1	65068538	65068538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:65068538C>T	ENST00000371073.2	+	4	460	c.460C>T	c.(460-462)Cga>Tga	p.R154*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.R103*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	154					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.R103*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TAGTTGTGATCGACTTTCTAC	0.368																																					p.R103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C307T	1						.						153.0	135.0	141.0					1																	65068538		1842	4087	5929	64841126	SO:0001587	stop_gained	57685	exon4			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.460C>T	1.37:g.65068538C>T	ENSP00000360113:p.Arg154*	Somatic		Capture	Illumina HiSeq	Phase_I	64841126	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	37	6.476212	0.97598	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0243	14.1351	0.65281	0.2715:0.7285:0.0:0.0	.	.	.	.	X	154;103	.	ENSP00000290039:R103X	R	+	1	2	CACHD1	64841126	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.927000	0.48900	2.673000	0.90976	0.555000	0.69702	CGA		0.368	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
RAVER2	55225	broad.mit.edu	37	1	65278472	65278472	+	Missense_Mutation	SNP	C	C	T	rs201820413		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:65278472C>T	ENST00000294428.3	+	10	1810	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	RAVER2_ENST00000371072.4_Missense_Mutation_p.R565W|RAVER2_ENST00000430964.2_Missense_Mutation_p.R117W			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	578						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R565W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAAAGAAATTCGGCTCAGTAA	0.403																																					p.R565W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1693T	1						.	C	TRP/ARG	0,3646		0,0,1823	116.0	105.0	108.0		1693	4.6	1.0	1		108	1,8163		0,1,4081	yes	missense	RAVER2	NM_018211.3	101	0,1,5904	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging	565/679	65278472	1,11809	1823	4082	5905	65051060	SO:0001583	missense	55225	exon10			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1732C>T	1.37:g.65278472C>T	ENSP00000294428:p.Arg578Trp	Somatic		Capture	Illumina HiSeq	Phase_I	65051060	NM_018211	Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.036333	0.75617	0.0	1.22E-4	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	D;D;D	0.81739	-1.53;-1.53;-1.53	5.49	4.57	0.56435	.	0.128592	0.50627	D	0.000110	D	0.83788	0.5330	L	0.59436	1.845	0.38481	D	0.947715	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	D	0.86574	0.1849	10	0.87932	D	0	-38.9293	13.5996	0.62011	0.1558:0.8442:0.0:0.0	.	578;565	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	W	565;578;117	ENSP00000360112:R565W;ENSP00000294428:R578W;ENSP00000408950:R117W	ENSP00000294428:R578W	R	+	1	2	RAVER2	65051060	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	3.084000	0.50143	1.274000	0.44362	0.579000	0.79373	CGG		0.403	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211	
AK4	205	broad.mit.edu	37	1	65691785	65691785	+	Silent	SNP	G	G	A	rs550508905		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:65691785G>A	ENST00000327299.7	+	5	802	c.597G>A	c.(595-597)acG>acA	p.T199T	AK4_ENST00000545314.1_Silent_p.T199T|AK4_ENST00000546702.1_Silent_p.T147T|AK4_ENST00000395334.2_Silent_p.T199T	NM_013410.3	NP_037542.1			adenylate kinase 4									p.T199T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GAACGGAGACGAACAAAATCT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21091	0.001		0.0	False		,,,				2504	0.0				p.T199T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G597A	1						.						38.0	37.0	37.0					1																	65691785		2203	4300	6503	65464373	SO:0001819	synonymous_variant	205	exon6			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.597G>A	1.37:g.65691785G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65464373	NM_001005353		Silent	SNP	ENST00000327299.7	37	CCDS629.1																																																																																				0.443	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410	
DNAJC6	9829	broad.mit.edu	37	1	65858281	65858281	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:65858281G>A	ENST00000395325.3	+	12	1622	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	DNAJC6_ENST00000263441.7_Missense_Mutation_p.A476T|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A546T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	489	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.A489T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCAGGAGCCAGCAGCCCCTCC	0.552																																					p.A489T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1465A	1						.						43.0	45.0	44.0					1																	65858281		2203	4300	6503	65630869	SO:0001583	missense	9829	exon12			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1465G>A	1.37:g.65858281G>A	ENSP00000378735:p.Ala489Thr	Somatic		Capture	Illumina HiSeq	Phase_I	65630869	NM_014787	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121747	0.37436	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93426	-3.2;-3.21;-3.22	5.65	4.7	0.59300	.	0.530450	0.19526	N	0.112159	T	0.79137	0.4395	N	0.24115	0.695	0.31875	N	0.619208	B;B;B	0.15719	0.014;0.003;0.003	B;B;B	0.12156	0.007;0.005;0.005	T	0.65450	-0.6165	9	.	.	.	.	9.4935	0.38974	0.0:0.3366:0.5431:0.1203	.	546;489;476	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	T	476;489;546	ENSP00000263441:A476T;ENSP00000378735:A489T;ENSP00000360108:A546T	.	A	+	1	0	DNAJC6	65630869	0.554000	0.26522	0.605000	0.28930	0.952000	0.60782	2.172000	0.42463	2.941000	0.99782	0.655000	0.94253	GCA		0.552	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1		
C1orf141	400757	broad.mit.edu	37	1	67558979	67558979	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67558979C>T	ENST00000371007.2	-	8	1021	c.912G>A	c.(910-912)caG>caA	p.Q304Q	C1orf141_ENST00000371006.1_Silent_p.Q304Q|C1orf141_ENST00000544837.1_Silent_p.Q304Q	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	304								p.Q304Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTAGTGTCTGCTTATTAG	0.343																																					p.Q304Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G912A	1						.						82.0	85.0	84.0					1																	67558979		2203	4300	6503	67331567	SO:0001819	synonymous_variant	400757	exon7			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.912G>A	1.37:g.67558979C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67331567	NM_001013674	Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	CCDS30745.1																																																																																				0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
C1orf141	400757	broad.mit.edu	37	1	67561057	67561057	+	Missense_Mutation	SNP	G	G	A	rs147612243		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67561057G>A	ENST00000371007.2	-	7	573	c.464C>T	c.(463-465)tCg>tTg	p.S155L	C1orf141_ENST00000371006.1_Missense_Mutation_p.S155L|C1orf141_ENST00000544837.1_Missense_Mutation_p.S155L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	155								p.S155L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATTTCTGACCGATTTGTTTTC	0.348																																					p.S155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	1						.	G	LEU/SER	1,4403	2.1+/-5.4	0,1,2201	81.0	73.0	76.0		464	-1.8	0.0	1	dbSNP_134	76	0,8600		0,0,4300	no	missense	C1orf141	NM_001013674.1	145	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	155/401	67561057	1,13003	2202	4300	6502	67333645	SO:0001583	missense	400757	exon6			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.464C>T	1.37:g.67561057G>A	ENSP00000360046:p.Ser155Leu	Somatic		Capture	Illumina HiSeq	Phase_I	67333645	NM_001013674	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302138	0.23736	2.27E-4	0.0	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837;ENST00000371005;ENST00000448166	T;T;T	0.26660	1.72;1.72;1.72	5.34	-1.81	0.07882	.	1.008970	0.07971	N	0.983931	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43669	-0.9377	10	0.30854	T	0.27	-0.0194	4.5315	0.12008	0.3756:0.2956:0.3288:0.0	.	155	Q5JVX7	CA141_HUMAN	L	155;155;155;226;226	ENSP00000360046:S155L;ENSP00000360045:S155L;ENSP00000444018:S155L	ENSP00000360044:S226L	S	-	2	0	C1orf141	67333645	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.004000	0.13106	-0.093000	0.12396	-0.769000	0.03391	TCG		0.348	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
IL23R	149233	broad.mit.edu	37	1	67724321	67724321	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67724321C>T	ENST00000347310.5	+	11	1571	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.S212L	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	467					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.S467L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGCAAAACTCGCTATTCGAC	0.408																																					p.S467L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1400T	1						.						97.0	100.0	99.0					1																	67724321		2203	4300	6503	67496909	SO:0001583	missense	149233	exon11			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1400C>T	1.37:g.67724321C>T	ENSP00000321345:p.Ser467Leu	Somatic		Capture	Illumina HiSeq	Phase_I	67496909	NM_144701	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.402292|3.402292	0.62288|0.62288	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000395227	.|T;T	.|0.34072	.|1.38;1.46	5.23|5.23	4.3|4.3	0.51218|0.51218	.|.	.|1.039690	.|0.07548	.|N	.|0.914950	T|T	0.15565|0.15565	0.0375|0.0375	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.43431	.|0.78;0.78;0.807;0.78;0.563	.|B;B;B;B;B	.|0.30782	.|0.12;0.12;0.093;0.12;0.08	T|T	0.15896|0.15896	-1.0421|-1.0421	5|10	.|0.42905	.|T	.|0.14	-22.4646|-22.4646	10.5519|10.5519	0.45095|0.45095	0.0:0.9083:0.0:0.0917|0.0:0.9083:0.0:0.0917	.|.	.|213;102;65;212;467	.|Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.|.;.;.;.;IL23R_HUMAN	C|L	229|467;212	.|ENSP00000321345:S467L;ENSP00000378652:S212L	.|ENSP00000321345:S467L	R|S	+|+	1|2	0|0	IL23R|IL23R	67496909|67496909	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	2.022000|2.022000	0.41030|0.41030	1.296000|1.296000	0.44742|0.44742	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.408	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
IL23R	149233	broad.mit.edu	37	1	67724483	67724483	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67724483A>T	ENST00000347310.5	+	11	1733	c.1562A>T	c.(1561-1563)aAt>aTt	p.N521I	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.N266I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	521					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.N521I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCAGGAAATAATCCCAGGTTA	0.333																																					p.N521I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1562T	1						.						50.0	49.0	49.0					1																	67724483		2203	4300	6503	67497071	SO:0001583	missense	149233	exon11			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1562A>T	1.37:g.67724483A>T	ENSP00000321345:p.Asn521Ile	Somatic		Capture	Illumina HiSeq	Phase_I	67497071	NM_144701	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.01|15.01	2.707554|2.707554	0.48412|0.48412	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000395227	.|T;T	.|0.38077	.|1.16;1.24	5.34|5.34	4.19|4.19	0.49359|0.49359	.|.	.|0.538297	.|0.18108	.|N	.|0.151453	T|T	0.37073|0.37073	0.0990|0.0990	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|B;P;B;B;D	.|0.61080	.|0.253;0.496;0.253;0.253;0.989	.|B;B;B;B;D	.|0.63877	.|0.178;0.178;0.178;0.178;0.919	T|T	0.26744|0.26744	-1.0094|-1.0094	5|10	.|0.87932	.|D	.|0	-31.8488|-31.8488	8.4231|8.4231	0.32712|0.32712	0.8261:0.0:0.0:0.1739|0.8261:0.0:0.0:0.1739	.|.	.|267;156;119;266;521	.|Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.|.;.;.;.;IL23R_HUMAN	F|I	283|521;266	.|ENSP00000321345:N521I;ENSP00000378652:N266I	.|ENSP00000321345:N521I	I|N	+|+	1|2	0|0	IL23R|IL23R	67497071|67497071	0.174000|0.174000	0.23070|0.23070	0.002000|0.002000	0.10522|0.10522	0.017000|0.017000	0.09413|0.09413	2.312000|2.312000	0.43726|0.43726	0.824000|0.824000	0.34613|0.34613	0.528000|0.528000	0.53228|0.53228	ATC|AAT		0.333	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
IL12RB2	3595	broad.mit.edu	37	1	67838312	67838312	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67838312A>C	ENST00000262345.1	+	12	2203	c.1563A>C	c.(1561-1563)ccA>ccC	p.P521P	IL12RB2_ENST00000371000.1_Silent_p.P521P|IL12RB2_ENST00000541374.1_Silent_p.P521P|IL12RB2_ENST00000544434.1_Intron	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.P521P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTACAGCACCACTGAGTGGCC	0.468																																					p.P521P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1563C	1						.						72.0	72.0	72.0					1																	67838312		2203	4300	6503	67610900	SO:0001819	synonymous_variant	3595	exon12			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1563A>C	1.37:g.67838312A>C		Somatic		Capture	Illumina HiSeq	Phase_I	67610900	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	CCDS638.1																																																																																				0.468	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
IL12RB2	3595	broad.mit.edu	37	1	67861690	67861690	+	Missense_Mutation	SNP	C	C	A	rs147267211		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67861690C>A	ENST00000262345.1	+	16	3147	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.S750Y	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	836					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.S836Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCCTCAAGTTCTCTTCACCCA	0.517																																					p.S836Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2507A	1						.						328.0	311.0	317.0					1																	67861690		2203	4300	6503	67634278	SO:0001583	missense	3595	exon16			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2507C>A	1.37:g.67861690C>A	ENSP00000262345:p.Ser836Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	67634278	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877793	0.72294	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.51817	0.69;1.57	5.38	5.38	0.77491	.	0.479416	0.23966	N	0.042808	T	0.46073	0.1374	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.68039	0.955;0.87	T	0.45977	-0.9224	10	0.52906	T	0.07	-12.6876	14.9968	0.71439	0.0:1.0:0.0:0.0	.	750;836	F5H7L6;Q99665	.;I12R2_HUMAN	Y	836;750	ENSP00000262345:S836Y;ENSP00000442443:S750Y	ENSP00000262345:S836Y	S	+	2	0	IL12RB2	67634278	0.008000	0.16893	0.546000	0.28166	0.781000	0.44180	2.031000	0.41117	2.691000	0.91804	0.655000	0.94253	TCT		0.517	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
RPE65	6121	broad.mit.edu	37	1	68910221	68910221	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:68910221A>C	ENST00000262340.5	-	5	541	c.488T>G	c.(487-489)aTt>aGt	p.I163S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	163					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.I163S(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CACCTGCTTAATTGTCTCCAA	0.383																																					p.I163S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T488G	1						.						100.0	103.0	102.0					1																	68910221		2203	4300	6503	68682809	SO:0001583	missense	6121	exon5			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.488T>G	1.37:g.68910221A>C	ENSP00000262340:p.Ile163Ser	Somatic		Capture	Illumina HiSeq	Phase_I	68682809	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073803	0.55646	.	.	ENSG00000116745	ENST00000262340	D	0.95377	-3.69	5.04	5.04	0.67666	.	0.213426	0.47852	D	0.000202	D	0.91918	0.7441	M	0.77820	2.39	0.52501	D	0.999955	B	0.31837	0.342	B	0.30646	0.118	D	0.91249	0.5028	10	0.20519	T	0.43	-4.7689	14.9293	0.70903	1.0:0.0:0.0:0.0	.	163	Q16518	RPE65_HUMAN	S	163	ENSP00000262340:I163S	ENSP00000262340:I163S	I	-	2	0	RPE65	68682809	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	6.971000	0.76105	2.119000	0.64992	0.528000	0.53228	ATT		0.383	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
LRRC7	57554	broad.mit.edu	37	1	70452064	70452064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:70452064C>A	ENST00000035383.5	+	8	842	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.S276Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	271						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S271Y(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGCCTGATTCTATAGGTGAG	0.308																																					p.S271Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812A	1						.						61.0	61.0	61.0					1																	70452064		2203	4300	6503	70224652	SO:0001583	missense	57554	exon8				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.812C>A	1.37:g.70452064C>A	ENSP00000035383:p.Ser271Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70224652	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378459	0.42207	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.26810	1.87;1.71	5.99	5.99	0.97316	.	0.117739	0.64402	D	0.000020	T	0.39517	0.1081	M	0.84156	2.68	0.80722	D	1	D	0.54397	0.966	P	0.52554	0.702	T	0.36138	-0.9760	10	0.66056	D	0.02	.	17.6337	0.88116	0.0:1.0:0.0:0.0	.	271	Q96NW7	LRRC7_HUMAN	Y	276;271;94	ENSP00000309245:S276Y;ENSP00000035383:S271Y	ENSP00000035383:S271Y	S	+	2	0	LRRC7	70224652	1.000000	0.71417	0.999000	0.59377	0.019000	0.09904	5.649000	0.67936	2.840000	0.97914	0.655000	0.94253	TCT		0.308	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70502264	70502264	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:70502264A>G	ENST00000035383.5	+	18	2161	c.2131A>G	c.(2131-2133)Aca>Gca	p.T711A	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Missense_Mutation_p.T716A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	711						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T711A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTCCTTGCAGACAACAGCTAA	0.433																																					p.T711A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2131G	1						.						132.0	145.0	141.0					1																	70502264		2203	4300	6503	70274852	SO:0001583	missense	57554	exon18				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2131A>G	1.37:g.70502264A>G	ENSP00000035383:p.Thr711Ala	Somatic		Capture	Illumina HiSeq	Phase_I	70274852	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	8.719	0.913851	0.17907	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.40225	1.04;1.12	5.94	-0.581	0.11713	.	0.459979	0.25780	N	0.028345	T	0.05181	0.0138	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	10	0.09338	T	0.73	.	6.7224	0.23338	0.4961:0.3714:0.1325:0.0	.	711	Q96NW7	LRRC7_HUMAN	A	716;711;534	ENSP00000309245:T716A;ENSP00000035383:T711A	ENSP00000035383:T711A	T	+	1	0	LRRC7	70274852	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	0.610000	0.24253	-0.105000	0.12132	-0.472000	0.04984	ACA		0.433	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70504370	70504370	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:70504370G>A	ENST00000035383.5	+	19	2779	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	LRRC7_ENST00000415775.2_Missense_Mutation_p.E201K|LRRC7_ENST00000310961.5_Missense_Mutation_p.E922K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	917						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.E917K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGCCGCCCGGAATCTTCTAA	0.398																																					p.E917K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2749A	1						.						52.0	53.0	53.0					1																	70504370		2203	4300	6503	70276958	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2749G>A	1.37:g.70504370G>A	ENSP00000035383:p.Glu917Lys	Somatic		Capture	Illumina HiSeq	Phase_I	70276958	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589336	0.28357	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38722	1.12;1.2;2.28	5.67	5.67	0.87782	.	0.318676	0.33477	N	0.004861	T	0.25827	0.0629	L	0.34521	1.04	0.40900	D	0.984141	B;B;B	0.25169	0.119;0.081;0.048	B;B;B	0.29077	0.098;0.046;0.021	T	0.05451	-1.0884	10	0.46703	T	0.11	.	18.7487	0.91804	0.0:0.0:1.0:0.0	.	201;917;917	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	K	922;917;201;740	ENSP00000309245:E922K;ENSP00000035383:E917K;ENSP00000394867:E201K	ENSP00000035383:E917K	E	+	1	0	LRRC7	70276958	1.000000	0.71417	0.895000	0.35142	0.073000	0.16967	7.814000	0.86154	2.686000	0.91538	0.467000	0.42956	GAA		0.398	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
PTGER3	5733	broad.mit.edu	37	1	71512563	71512563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:71512563G>A	ENST00000306666.5	-	1	908	c.698C>T	c.(697-699)gCc>gTc	p.A233V	PTGER3_ENST00000356595.4_Missense_Mutation_p.A233V|PTGER3_ENST00000370924.4_Missense_Mutation_p.A233V|PTGER3_ENST00000351052.5_Missense_Mutation_p.A233V|PTGER3_ENST00000370931.3_Missense_Mutation_p.A233V|PTGER3_ENST00000460330.1_Missense_Mutation_p.A233V|PTGER3_ENST00000414819.1_Missense_Mutation_p.A233V|PTGER3_ENST00000354608.5_Missense_Mutation_p.A233V|PTGER3_ENST00000370932.2_Missense_Mutation_p.A233V|ZRANB2-AS1_ENST00000450461.1_RNA	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	233					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.A233V(3)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GAAGGCAAAGGCAGAGGCGAA	0.637																																					p.A233V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C698T	1						.						107.0	104.0	105.0					1																	71512563		2203	4300	6503	71285151	SO:0001583	missense	5733	exon1			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.698C>T	1.37:g.71512563G>A	ENSP00000302313:p.Ala233Val	Somatic		Capture	Illumina HiSeq	Phase_I	71285151	NM_198715	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179141	0.57800	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.204998	0.50627	D	0.000112	T	0.43765	0.1262	N	0.20986	0.625	0.46521	D	0.999085	B;B;B;B;P;B;B;B	0.40000	0.412;0.033;0.363;0.357;0.698;0.026;0.089;0.033	B;B;B;B;B;B;B;B	0.37731	0.257;0.111;0.228;0.257;0.257;0.068;0.108;0.111	T	0.48387	-0.9040	10	0.37606	T	0.19	-13.9868	18.6995	0.91615	0.0:0.0:1.0:0.0	.	233;233;233;233;233;233;233;233	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	V	233	ENSP00000359969:A233V;ENSP00000359970:A233V;ENSP00000280208:A233V;ENSP00000418073:A233V;ENSP00000346624:A233V;ENSP00000349003:A233V;ENSP00000401423:A233V;ENSP00000302313:A233V;ENSP00000359962:A233V	ENSP00000302313:A233V	A	-	2	0	PTGER3	71285151	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	3.982000	0.56909	2.643000	0.89663	0.462000	0.41574	GCC		0.637	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
ZRANB2	9406	broad.mit.edu	37	1	71532566	71532566	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:71532566A>G	ENST00000370920.3	-	9	1123	c.822T>C	c.(820-822)taT>taC	p.Y274Y	ZRANB2_ENST00000477096.1_5'UTR|MIR186_ENST00000384988.1_RNA|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Silent_p.Y274Y|ZRANB2-AS1_ENST00000450461.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	274	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y274Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATGAACTTGAATAAGATCTTT	0.398																																					p.Y274Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T822C	1						.						88.0	87.0	87.0					1																	71532566		2203	4300	6503	71305154	SO:0001819	synonymous_variant	9406	exon9			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.822T>C	1.37:g.71532566A>G		Somatic		Capture	Illumina HiSeq	Phase_I	71305154	NM_203350	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Silent	SNP	ENST00000370920.3	37	CCDS659.1																																																																																				0.398	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	
LRRIQ3	127255	broad.mit.edu	37	1	74621523	74621523	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:74621523T>A	ENST00000395089.1	-	3	600	c.601A>T	c.(601-603)Aat>Tat	p.N201Y	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.N201Y|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.N93Y			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	201								p.N201Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTTTAATATTATTAATTTCC	0.234																																					p.N201Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A601T	1						.						32.0	31.0	31.0					1																	74621523		1766	4014	5780	74394111	SO:0001583	missense	127255	exon4			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.601A>T	1.37:g.74621523T>A	ENSP00000378524:p.Asn201Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74394111	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.967|6.967	0.548404|0.548404	0.13312|0.13312	.|.	.|.	ENSG00000162620|ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972|ENST00000444984	T;T;T|.	0.33865|.	3.07;3.07;1.39|.	4.75|4.75	2.33|2.33	0.28932|0.28932	.|.	0.259244|.	0.27340|.	N|.	0.019817|.	T|.	0.21227|.	0.0511|.	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	B|.	0.26672|.	0.156|.	B|.	0.16289|.	0.015|.	T|.	0.11251|.	-1.0595|.	10|.	0.52906|.	T|.	0.07|.	.|.	5.4158|5.4158	0.16374|0.16374	0.0:0.098:0.1784:0.7236|0.0:0.098:0.1784:0.7236	.|.	201|.	A6PVS8|.	LRIQ3_HUMAN|.	Y|L	201;201;93;201|35	ENSP00000378524:N201Y;ENSP00000346414:N201Y;ENSP00000359946:N93Y|.	ENSP00000346414:N201Y|.	N|X	-|-	1|2	0|2	LRRIQ3|LRRIQ3	74394111|74394111	0.034000|0.034000	0.19679|0.19679	0.972000|0.972000	0.41901|0.41901	0.192000|0.192000	0.23643|0.23643	0.004000|0.004000	0.13106|0.13106	1.918000|1.918000	0.55548|0.55548	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.234	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
ACADM	34	broad.mit.edu	37	1	76198595	76198595	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:76198595C>A	ENST00000370841.4	+	4	711	c.274C>A	c.(274-276)Cca>Aca	p.P92T	ACADM_ENST00000541113.1_Missense_Mutation_p.P56T|ACADM_ENST00000420607.2_Missense_Mutation_p.P96T|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.P92T	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	92					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.P92T(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CACACACATTCCAGAGAACTG	0.323																																					p.P92T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274A	1						.						62.0	69.0	66.0					1																	76198595		2202	4298	6500	75971183	SO:0001583	missense	34	exon4			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.274C>A	1.37:g.76198595C>A	ENSP00000359878:p.Pro92Thr	Somatic		Capture	Illumina HiSeq	Phase_I	75971183	NM_000016	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734413	0.69189	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34	5.28	5.28	0.74379	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.95539	3.685	0.80722	D	1	D;P;D;D;D;D	0.89917	0.997;0.946;1.0;0.997;0.998;0.999	D;D;D;D;D;D	0.97110	0.977;0.922;1.0;0.994;0.983;0.99	D	0.96115	0.9080	10	0.87932	D	0	.	18.5041	0.90891	0.0:1.0:0.0:0.0	.	56;6;92;92;96;92	B7Z9I1;B4DVE0;E9PJM9;Q5T4U5;P11310-2;P11310	.;.;.;.;.;ACADM_HUMAN	T	92;92;56;96	ENSP00000359878:P92T;ENSP00000359871:P92T;ENSP00000442324:P56T;ENSP00000409612:P96T	ENSP00000359871:P92T	P	+	1	0	ACADM	75971183	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	5.890000	0.69774	2.460000	0.83146	0.591000	0.81541	CCA		0.323	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
MSH4	4438	broad.mit.edu	37	1	76262814	76262814	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:76262814C>T	ENST00000263187.3	+	1	248	c.144C>T	c.(142-144)gtC>gtT	p.V48V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	48					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.V48V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCAGGTGGTCTCTGCATCCA	0.667								Mismatch excision repair (MMR)																													p.V48V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144T	1						.						22.0	23.0	23.0					1																	76262814		2203	4300	6503	76035402	SO:0001819	synonymous_variant	4438	exon1			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.144C>T	1.37:g.76262814C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76035402	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	CCDS670.1																																																																																				0.667	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
MSH4	4438	broad.mit.edu	37	1	76272778	76272778	+	Missense_Mutation	SNP	C	C	A	rs144700439	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:76272778C>A	ENST00000263187.3	+	3	644	c.540C>A	c.(538-540)aaC>aaA	p.N180K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	180					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.N180K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTAAAAAACCCCCAAATTA	0.393								Mismatch excision repair (MMR)																													p.N180K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C540A	1						.	C	LYS/ASN	4,4402	2.1+/-5.4	0,4,2199	110.0	119.0	116.0		540	2.7	1.0	1	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MSH4	NM_002440.3	94	0,7,6496	AA,AC,CC		0.0349,0.0908,0.0538	benign	180/937	76272778	7,12999	2203	4300	6503	76045366	SO:0001583	missense	4438	exon3			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.540C>A	1.37:g.76272778C>A	ENSP00000263187:p.Asn180Lys	Somatic		Capture	Illumina HiSeq	Phase_I	76045366	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981519	0.34942	9.08E-4	3.49E-4	ENSG00000057468	ENST00000263187	T	0.58797	0.31	5.82	2.71	0.32032	DNA mismatch repair protein MutS, connector (2);	0.291566	0.46145	D	0.000305	T	0.29882	0.0747	L	0.50333	1.59	0.33716	D	0.616386	B	0.12013	0.005	B	0.20577	0.03	T	0.23048	-1.0199	10	0.66056	D	0.02	-3.0645	4.5194	0.11952	0.0:0.5027:0.171:0.3263	.	180	O15457	MSH4_HUMAN	K	180	ENSP00000263187:N180K	ENSP00000263187:N180K	N	+	3	2	MSH4	76045366	0.988000	0.35896	1.000000	0.80357	0.724000	0.41520	0.248000	0.18198	1.402000	0.46780	0.585000	0.79938	AAC		0.393	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
MSH4	4438	broad.mit.edu	37	1	76343855	76343855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:76343855G>T	ENST00000263187.3	+	11	1496	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	464					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.K464N(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TACTTGAAAAGATTAAAACAG	0.294								Mismatch excision repair (MMR)																													p.K464N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1392T	1						.						58.0	57.0	57.0					1																	76343855		2203	4298	6501	76116443	SO:0001583	missense	4438	exon11			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1392G>T	1.37:g.76343855G>T	ENSP00000263187:p.Lys464Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76116443	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532650	0.45073	.	.	ENSG00000057468	ENST00000263187	D	0.90732	-2.72	5.49	4.38	0.52667	DNA mismatch repair protein MutS, core (3);	0.110117	0.64402	D	0.000009	D	0.85805	0.5782	M	0.63843	1.955	0.38173	D	0.939382	B	0.26445	0.149	B	0.34590	0.186	D	0.85073	0.0941	10	0.45353	T	0.12	-31.9552	11.6717	0.51406	0.1522:0.0:0.8478:0.0	.	464	O15457	MSH4_HUMAN	N	464	ENSP00000263187:K464N	ENSP00000263187:K464N	K	+	3	2	MSH4	76116443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.540000	0.45727	2.576000	0.86940	0.650000	0.86243	AAG		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
AK5	26289	broad.mit.edu	37	1	77883340	77883340	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:77883340T>C	ENST00000354567.2	+	8	1262	c.999T>C	c.(997-999)gaT>gaC	p.D333D	AK5_ENST00000344720.5_Silent_p.D307D|RNU7-8P_ENST00000515958.1_RNA	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	333					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.D333D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTGACCTTGATCCTTCGATGA	0.338																																					p.D307D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T921C	1						.						120.0	106.0	111.0					1																	77883340		2203	4300	6503	77655928	SO:0001819	synonymous_variant	26289	exon8			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.999T>C	1.37:g.77883340T>C		Somatic		Capture	Illumina HiSeq	Phase_I	77655928	NM_012093	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	CCDS675.1																																																																																				0.338	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
AK5	26289	broad.mit.edu	37	1	77984363	77984363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:77984363G>T	ENST00000354567.2	+	11	1525	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	AK5_ENST00000344720.5_Missense_Mutation_p.R395I	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	421	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.R421I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAATCTGAAAGAAGCAAATTG	0.493																																					p.R395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184T	1						.						111.0	99.0	103.0					1																	77984363		2203	4300	6503	77756951	SO:0001583	missense	26289	exon11			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1262G>T	1.37:g.77984363G>T	ENSP00000346577:p.Arg421Ile	Somatic		Capture	Illumina HiSeq	Phase_I	77756951	NM_012093	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024559	0.93518	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71579	-0.58;-0.58	5.12	5.12	0.69794	.	0.142488	0.44097	D	0.000497	T	0.69495	0.3117	L	0.28740	0.885	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.66933	-0.5798	10	0.29301	T	0.29	2.4698	17.7052	0.88306	0.0:0.0:1.0:0.0	.	421	Q9Y6K8	KAD5_HUMAN	I	421;395	ENSP00000346577:R421I;ENSP00000341430:R395I	ENSP00000341430:R395I	R	+	2	0	AK5	77756951	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.111000	0.94308	2.554000	0.86153	0.655000	0.94253	AGA		0.493	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
ZZZ3	26009	broad.mit.edu	37	1	78041799	78041799	+	Missense_Mutation	SNP	C	C	T	rs138802564		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78041799C>T	ENST00000370801.3	-	12	2760	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R268Q	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	762					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R762Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AAAACAAGATCGGTCATCATC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17691	0.0		0.0	False		,,,				2504	0.0				p.R762Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2285A	1						.	C	GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	207.0	187.0	194.0		2285	5.3	1.0	1	dbSNP_134	194	0,8600		0,0,4300	yes	missense	ZZZ3	NM_015534.4	43	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	762/904	78041799	7,12999	2203	4300	6503	77814387	SO:0001583	missense	26009	exon12			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2285G>A	1.37:g.78041799C>T	ENSP00000359837:p.Arg762Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77814387	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945970	0.53079	0.001589	0.0	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.34	5.34	0.76211	.	0.141204	0.45126	D	0.000388	T	0.58235	0.2108	L	0.44542	1.39	0.54753	D	0.999982	P;P;D	0.71674	0.885;0.844;0.998	B;B;P	0.58780	0.368;0.117;0.845	T	0.51616	-0.8683	9	0.30854	T	0.27	.	19.4334	0.94781	0.0:1.0:0.0:0.0	.	268;762;761	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	762;268	.	ENSP00000359834:R268Q	R	-	2	0	ZZZ3	77814387	1.000000	0.71417	0.987000	0.45799	0.598000	0.36846	5.528000	0.67129	2.649000	0.89929	0.655000	0.94253	CGA		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
USP33	23032	broad.mit.edu	37	1	78163131	78163131	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78163131T>G	ENST00000370793.1	-	25	3046	c.2700A>C	c.(2698-2700)gaA>gaC	p.E900D	USP33_ENST00000357428.1_Missense_Mutation_p.E900D|USP33_ENST00000370794.3_Missense_Mutation_p.E869D	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	900	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E900D(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATTCCATGTTTCTTCAGAAA	0.373																																					p.E900D	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2700C	1						.						82.0	89.0	87.0					1																	78163131		2203	4300	6503	77935719	SO:0001583	missense	23032	exon25			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2700A>C	1.37:g.78163131T>G	ENSP00000359829:p.Glu900Asp	Somatic		Capture	Illumina HiSeq	Phase_I	77935719	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450631	0.84101	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.11277	2.8;2.79;2.79	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	M	0.63169	1.94	0.54753	D	0.999982	D	0.60160	0.987	D	0.67725	0.953	T	0.00778	-1.1570	10	0.66056	D	0.02	.	15.0336	0.71728	0.0:0.0:0.0:1.0	.	900	Q8TEY7	UBP33_HUMAN	D	869;900;900	ENSP00000359830:E869D;ENSP00000359829:E900D;ENSP00000350009:E900D	ENSP00000350009:E900D	E	-	3	2	USP33	77935719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.350000	0.44063	2.012000	0.59069	0.528000	0.53228	GAA		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
USP33	23032	broad.mit.edu	37	1	78191364	78191364	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78191364C>T	ENST00000370793.1	-	12	1658	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	USP33_ENST00000357428.1_Missense_Mutation_p.A438T|USP33_ENST00000370792.3_Missense_Mutation_p.A438T|USP33_ENST00000370794.3_Missense_Mutation_p.A407T	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	438	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A438T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GGAGGGCTTGCCGATAAACGT	0.398																																					p.A438T	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	1						.						140.0	120.0	127.0					1																	78191364		2203	4300	6503	77963952	SO:0001583	missense	23032	exon12			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1312G>A	1.37:g.78191364C>T	ENSP00000359829:p.Ala438Thr	Somatic		Capture	Illumina HiSeq	Phase_I	77963952	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782948	0.49891	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.09723	2.96;2.95;2.95;2.96	5.62	-1.05	0.10036	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.769196	0.12665	N	0.449320	T	0.01189	0.0039	N	0.11313	0.125	0.25387	N	0.98857	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.001;0.001;0.008	T	0.48246	-0.9052	10	0.14252	T	0.57	.	5.5116	0.16884	0.1533:0.2376:0.0:0.609	.	438;407;438	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	T	407;438;438;438	ENSP00000359830:A407T;ENSP00000359829:A438T;ENSP00000350009:A438T;ENSP00000359828:A438T	ENSP00000350009:A438T	A	-	1	0	USP33	77963952	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	0.708000	0.25719	0.104000	0.17725	-0.224000	0.12420	GCA		0.398	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
NEXN	91624	broad.mit.edu	37	1	78390906	78390906	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78390906G>T	ENST00000334785.7	+	6	665	c.481G>T	c.(481-483)Gca>Tca	p.A161S	NEXN_ENST00000330010.8_Missense_Mutation_p.A97S|NEXN_ENST00000457030.1_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.A161S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AACTGAATCAGCATCAGAGGT	0.279																																					p.A161S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481T	1						.						72.0	69.0	70.0					1																	78390906		1821	4063	5884	78163494	SO:0001583	missense	91624	exon6			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.481G>T	1.37:g.78390906G>T	ENSP00000333938:p.Ala161Ser	Somatic		Capture	Illumina HiSeq	Phase_I	78163494	NM_144573		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450800|1.450800	0.26074|0.26074	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000330010;ENST00000334785|ENST00000342754	T;T;T|.	0.67171|.	-0.25;0.17;0.25|.	5.92|5.92	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37483|.	N|.	0.002068|.	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B|.	0.24258|.	0.1;0.1|.	B;B|.	0.21708|.	0.036;0.036|.	T|T	0.47799|0.47799	-0.9089|-0.9089	10|5	0.09843|.	T|.	0.71|.	-16.0741|-16.0741	15.3228|15.3228	0.74135|0.74135	0.067:0.0:0.933:0.0|0.067:0.0:0.933:0.0	.|.	161;97|.	Q0ZGT2;B4DPZ7|.	NEXN_HUMAN;.|.	S|H	97;97;161|60	ENSP00000383814:A97S;ENSP00000327363:A97S;ENSP00000333938:A161S|.	ENSP00000327363:A97S|.	A|Q	+|+	1|3	0|2	NEXN|NEXN	78163494|78163494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.713000|1.713000	0.37951|0.37951	1.512000|1.512000	0.48834|0.48834	-0.143000|-0.143000	0.13931|0.13931	GCA|CAG		0.279	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
GIPC2	54810	broad.mit.edu	37	1	78601414	78601414	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78601414G>A	ENST00000370759.3	+	6	1128	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	312						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R312Q(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GATGCCAAACGAAGAGGATTA	0.403																																					p.R312Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	1						.						118.0	107.0	111.0					1																	78601414		2203	4300	6503	78374002	SO:0001583	missense	54810	exon6			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.935G>A	1.37:g.78601414G>A	ENSP00000359795:p.Arg312Gln	Somatic		Capture	Illumina HiSeq	Phase_I	78374002	NM_017655	Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	1.172	-0.640631	0.03557	.	.	ENSG00000137960	ENST00000370759	T	0.80824	-1.42	5.51	-2.33	0.06724	.	0.482809	0.22760	N	0.055961	T	0.29355	0.0731	N	0.02721	-0.515	0.27844	N	0.941009	B	0.10296	0.003	B	0.04013	0.001	T	0.41466	-0.9507	10	0.09843	T	0.71	-8.8349	12.5357	0.56140	0.8862:0.0:0.1138:0.0	.	312	Q8TF65	GIPC2_HUMAN	Q	312	ENSP00000359795:R312Q	ENSP00000359795:R312Q	R	+	2	0	GIPC2	78374002	0.976000	0.34144	0.005000	0.12908	0.022000	0.10575	0.758000	0.26447	-0.590000	0.05866	-0.810000	0.03169	CGA		0.403	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	
PTGFR	5737	broad.mit.edu	37	1	78963566	78963566	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:78963566G>T	ENST00000370757.3	+	2	1035				PTGFR_ENST00000370758.1_Intron|PTGFR_ENST00000370756.3_Missense_Mutation_p.R269I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)						calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.R269I(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CAGGGATACAGAATAATTTTG	0.358																																					p.R269I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G806T	1						.						64.0	67.0	66.0					1																	78963566		2202	4300	6502	78736154	SO:0001627	intron_variant	5737	exon3			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.798+4340G>T	1.37:g.78963566G>T		Somatic		Capture	Illumina HiSeq	Phase_I	78736154	NM_001039585	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701052	0.15172	.	.	ENSG00000122420	ENST00000370756	T	0.37058	1.22	4.0	-2.5	0.06384	.	.	.	.	.	T	0.03390	0.0098	N	0.02916	-0.46	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.37957	-0.9683	9	0.32370	T	0.25	.	0.9944	0.01464	0.3936:0.154:0.2952:0.1572	.	269	P43088-2	.	I	269	ENSP00000359792:R269I	ENSP00000359792:R269I	R	+	2	0	PTGFR	78736154	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-1.185000	0.03073	-0.513000	0.06496	0.655000	0.94253	AGA		0.358	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
IFI44L	10964	broad.mit.edu	37	1	79101057	79101057	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:79101057A>G	ENST00000370751.5	+	5	938	c.759A>G	c.(757-759)ggA>ggG	p.G253G	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	253					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.G214G(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAAAAAATGGAAAATCTCTGC	0.373																																					p.G253G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A759G	1						.						109.0	112.0	111.0					1																	79101057		2203	4300	6503	78873645	SO:0001819	synonymous_variant	10964	exon5			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.759A>G	1.37:g.79101057A>G		Somatic		Capture	Illumina HiSeq	Phase_I	78873645	NM_006820	Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	CCDS687.2																																																																																				0.373	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820	
ELTD1	64123	broad.mit.edu	37	1	79403500	79403500	+	Missense_Mutation	SNP	G	G	A	rs369699141		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:79403500G>A	ENST00000370742.3	-	6	815	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	251					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T251M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACCTATATCCGTTGAATTTGT	0.378																																					p.T251M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	1						.	G	MET/THR	0,3644		0,0,1822	153.0	140.0	144.0		752	3.9	1.0	1		144	1,8159		0,1,4079	no	missense	ELTD1	NM_022159.3	81	0,1,5901	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging	251/691	79403500	1,11803	1822	4080	5902	79176088	SO:0001583	missense	64123	exon6			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.752C>T	1.37:g.79403500G>A	ENSP00000359778:p.Thr251Met	Somatic		Capture	Illumina HiSeq	Phase_I	79176088	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403745	0.42613	0.0	1.23E-4	ENSG00000162618	ENST00000370742	T	0.09911	2.93	5.79	3.9	0.45041	Domain of unknown function DUF3497 (1);	0.334446	0.37136	N	0.002226	T	0.09468	0.0233	N	0.22421	0.69	0.36465	D	0.866942	D	0.65815	0.995	P	0.62740	0.906	T	0.16041	-1.0416	9	.	.	.	.	16.1895	0.81977	0.0:0.6809:0.3191:0.0	.	251	Q9HBW9	ELTD1_HUMAN	M	251	ENSP00000359778:T251M	.	T	-	2	0	ELTD1	79176088	1.000000	0.71417	0.985000	0.45067	0.444000	0.32077	1.886000	0.39688	0.746000	0.32786	-0.310000	0.09108	ACG		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPHN2	23266	broad.mit.edu	37	1	82416076	82416076	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:82416076T>C	ENST00000370728.1	+	9	2047	c.1402T>C	c.(1402-1404)Ttc>Ctc	p.F468L	LPHN2_ENST00000394879.1_Missense_Mutation_p.F468L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F468L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F468L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F468L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F468L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F406L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F468L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F468L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F468L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F468L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F468L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F468L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.F468L			O95490	LPHN2_HUMAN	latrophilin 2	468					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.F468L(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCCAGAGAGATTCTGTGAAGC	0.448																																					p.F468L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1402C	1						.						73.0	76.0	75.0					1																	82416076		2203	4300	6503	82188664	SO:0001583	missense	23266	exon6			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1402T>C	1.37:g.82416076T>C	ENSP00000359763:p.Phe468Leu	Somatic		Capture	Illumina HiSeq	Phase_I	82188664	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	14.95	2.688567	0.48097	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	M	0.72894	2.215	0.58432	D	0.999998	B;P;B	0.35401	0.364;0.499;0.125	B;B;B	0.35727	0.209;0.167;0.209	T	0.53129	-0.8482	10	0.23891	T	0.37	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	468;468;468	O95490-3;O95490-4;O95490-2	.;.;.	L	406;468;468;468;468;468;468;468;468;468;468;468;468;468	ENSP00000359756:F406L;ENSP00000359763:F468L;ENSP00000359765:F468L;ENSP00000359762:F468L;ENSP00000359760:F468L;ENSP00000359758:F468L;ENSP00000353006:F468L;ENSP00000359750:F468L;ENSP00000359748:F468L;ENSP00000322270:F468L;ENSP00000359752:F468L;ENSP00000378344:F468L;ENSP00000271029:F468L;ENSP00000337306:F468L	ENSP00000271029:F468L	F	+	1	0	LPHN2	82188664	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.499000	0.81566	2.246000	0.74042	0.533000	0.62120	TTC		0.448	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
LPHN2	23266	broad.mit.edu	37	1	82456626	82456626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:82456626G>A	ENST00000370728.1	+	25	4822	c.4177G>A	c.(4177-4179)Gac>Aac	p.D1393N	LPHN2_ENST00000394879.1_Missense_Mutation_p.D1395N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1408N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1350N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1365N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1337N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1318N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1350N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1408N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1395N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1337N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1365N			O95490	LPHN2_HUMAN	latrophilin 2	1393					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D1408N(1)|p.D1337N(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATGGAAGAAGACCTCTCTCC	0.488																																					p.D1337N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4009A	1						.						83.0	79.0	80.0					1																	82456626		2203	4300	6503	82229214	SO:0001583	missense	23266	exon20			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4177G>A	1.37:g.82456626G>A	ENSP00000359763:p.Asp1393Asn	Somatic		Capture	Illumina HiSeq	Phase_I	82229214	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.476847|2.476847	0.44044|0.44044	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.70282|.	-0.41;-0.43;-0.47;-0.41;-0.36;-0.32;-0.42;-0.42;-0.36;-0.32;-0.41;-0.47|.	5.25|5.25	4.33|4.33	0.51752|0.51752	.|.	0.559417|.	0.19158|.	N|.	0.121276|.	T|T	0.56396|0.56396	0.1982|0.1982	L|L	0.50333|0.50333	1.59|1.59	0.40885|0.40885	D|D	0.984026|0.984026	P;P|.	0.39940|.	0.696;0.611|.	B;B|.	0.41466|.	0.358;0.26|.	T|T	0.57225|0.57225	-0.7848|-0.7848	10|5	0.72032|.	D|.	0.01|.	.|.	15.8063|15.8063	0.78513|0.78513	0.0:0.1363:0.8637:0.0|0.0:0.1363:0.8637:0.0	.|.	1337;317|.	O95490-2;B3KVU1|.	.;.|.	N|K	1318;1393;1350;1365;1408;1395;1337;1337;1408;1395;1365;1350|404	ENSP00000359756:D1318N;ENSP00000359763:D1393N;ENSP00000359765:D1350N;ENSP00000359762:D1365N;ENSP00000359760:D1408N;ENSP00000359758:D1395N;ENSP00000353006:D1337N;ENSP00000322270:D1337N;ENSP00000359752:D1408N;ENSP00000378344:D1395N;ENSP00000271029:D1365N;ENSP00000337306:D1350N|.	ENSP00000271029:D1365N|.	D|R	+|+	1|2	0|0	LPHN2|LPHN2	82229214|82229214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.230000|9.230000	0.95299|0.95299	1.203000|1.203000	0.43233|0.43233	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.488	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
TTLL7	79739	broad.mit.edu	37	1	84335661	84335661	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:84335661C>A	ENST00000260505.8	-	21	3025	c.2648G>T	c.(2647-2649)aGa>aTa	p.R883I	TTLL7_ENST00000477524.1_Splice_Site	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	883					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.R883I(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGGCCATATCTGGATGTAAA	0.403																																					p.R883I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2648T	1						.						158.0	137.0	144.0					1																	84335661		2203	4300	6503	84108249	SO:0001583	missense	79739	exon21			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2648G>T	1.37:g.84335661C>A	ENSP00000260505:p.Arg883Ile	Somatic		Capture	Illumina HiSeq	Phase_I	84108249	NM_024686	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840328	0.71488	.	.	ENSG00000137941	ENST00000260505	T	0.06768	3.26	5.88	5.88	0.94601	.	0.727393	0.12284	N	0.482564	T	0.20495	0.0493	M	0.62723	1.935	0.58432	D	0.999997	D	0.76494	0.999	D	0.66196	0.942	T	0.00123	-1.2026	10	0.87932	D	0	.	18.4033	0.90525	0.0:1.0:0.0:0.0	.	883	Q6ZT98	TTLL7_HUMAN	I	883	ENSP00000260505:R883I	ENSP00000260505:R883I	R	-	2	0	TTLL7	84108249	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.770000	0.62309	2.789000	0.95967	0.655000	0.94253	AGA		0.403	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
SSX2IP	117178	broad.mit.edu	37	1	85113204	85113204	+	Missense_Mutation	SNP	G	G	A	rs146411258		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85113204G>A	ENST00000342203.3	-	14	2020	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V	SSX2IP_ENST00000437941.2_Missense_Mutation_p.A559V|SSX2IP_ENST00000605755.1_Missense_Mutation_p.A559V	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	586					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A586V(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGTCTTGATGCCACACTCCA	0.388																																					p.A559V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1676T	1						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	265.0	214.0	231.0		1757,1676,1676,1757,1757	-2.1	0.0	1	dbSNP_134	231	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	SSX2IP	NM_001166293.1,NM_001166294.1,NM_001166295.1,NM_001166417.1,NM_014021.3	64,64,64,64,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	586/615,559/588,559/588,586/615,586/615	85113204	1,13003	2203	4299	6502	84885792	SO:0001583	missense	117178	exon13				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1757C>T	1.37:g.85113204G>A	ENSP00000340279:p.Ala586Val	Somatic		Capture	Illumina HiSeq	Phase_I	84885792	NM_001166294	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423862	0.11928	2.27E-4	0.0	ENSG00000117155	ENST00000342203;ENST00000437941	T;T	0.46451	0.87;0.87	5.86	-2.07	0.07276	.	1.155940	0.06234	N	0.689230	T	0.11153	0.0272	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26155	-1.0111	10	0.33940	T	0.23	-0.5457	4.4221	0.11486	0.4233:0.0:0.3357:0.2409	.	586;559	Q9Y2D8;B4DFE3	ADIP_HUMAN;.	V	586;559	ENSP00000340279:A586V;ENSP00000412781:A559V	ENSP00000340279:A586V	A	-	2	0	SSX2IP	84885792	0.116000	0.22171	0.000000	0.03702	0.075000	0.17131	1.063000	0.30567	-0.726000	0.04895	-0.136000	0.14681	GCA		0.388	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021	
MCOLN2	255231	broad.mit.edu	37	1	85395248	85395248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85395248G>A	ENST00000370608.3	-	13	1724	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R525W	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	553					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R553W(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACCTCCTCCGACAGCAGATG	0.463																																					p.R553W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1657T	1						.						87.0	80.0	82.0					1																	85395248		2203	4300	6503	85167836	SO:0001583	missense	255231	exon13			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1657C>T	1.37:g.85395248G>A	ENSP00000359640:p.Arg553Trp	Somatic		Capture	Illumina HiSeq	Phase_I	85167836	NM_153259	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641052	0.47153	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.84146	-1.81;-1.8	5.64	2.21	0.28008	.	0.361226	0.31577	N	0.007403	T	0.43077	0.1231	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	B	0.36766	0.232	T	0.51764	-0.8664	10	0.46703	T	0.11	1.4894	2.8098	0.05438	0.2705:0.0:0.5147:0.2148	.	553	Q8IZK6	MCLN2_HUMAN	W	553;525	ENSP00000359640:R553W;ENSP00000284027:R525W	ENSP00000284027:R525W	R	-	1	2	MCOLN2	85167836	0.974000	0.33945	0.974000	0.42286	0.729000	0.41735	2.265000	0.43311	0.834000	0.34852	0.561000	0.74099	CGG		0.463	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259	
MCOLN3	55283	broad.mit.edu	37	1	85494857	85494857	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85494857C>A	ENST00000370589.2	-	7	816	c.764G>T	c.(763-765)aGa>aTa	p.R255I	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.R255I|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R199I	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	255					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R255I(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATTTTAATTCTTCCACTATG	0.343																																					p.R255I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764T	1						.						118.0	111.0	113.0					1																	85494857		2202	4299	6501	85267445	SO:0001583	missense	55283	exon7			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.764G>T	1.37:g.85494857C>A	ENSP00000359621:p.Arg255Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85267445	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721777	0.68959	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.78924	-1.22;-1.22;-1.22	5.72	4.81	0.61882	.	0.039679	0.85682	D	0.000000	T	0.81211	0.4775	M	0.64404	1.975	0.80722	D	1	D;P;D;D	0.76494	0.984;0.858;0.999;0.999	P;P;D;P	0.67382	0.866;0.596;0.951;0.894	T	0.81887	-0.0726	10	0.42905	T	0.14	-4.6133	14.6838	0.69035	0.0:0.9305:0.0:0.0695	.	255;255;199;255	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	I	255;255;199;199;255	ENSP00000359621:R255I;ENSP00000342698:R199I;ENSP00000359619:R255I	ENSP00000304843:R255I	R	-	2	0	MCOLN3	85267445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.085000	0.50151	1.431000	0.47355	0.655000	0.94253	AGA		0.343	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
MCOLN3	55283	broad.mit.edu	37	1	85499851	85499851	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85499851C>A	ENST00000370589.2	-	4	532	c.480G>T	c.(478-480)caG>caT	p.Q160H	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.Q160H|MCOLN3_ENST00000341115.4_Missense_Mutation_p.Q104H	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	160					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q160H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGTAGAAGTGCTGACAGATTG	0.408																																					p.Q160H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G480T	1						.						154.0	135.0	141.0					1																	85499851		2203	4300	6503	85272439	SO:0001583	missense	55283	exon4			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.480G>T	1.37:g.85499851C>A	ENSP00000359621:p.Gln160His	Somatic		Capture	Illumina HiSeq	Phase_I	85272439	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785116	0.70222	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59906	0.23;0.23;0.23	5.86	4.94	0.65067	.	0.110585	0.64402	D	0.000006	T	0.55401	0.1918	M	0.66297	2.02	0.42229	D	0.991888	P;B;D;D	0.57899	0.889;0.052;0.981;0.981	P;B;P;P	0.58721	0.713;0.067;0.844;0.779	T	0.51872	-0.8650	10	0.15066	T	0.55	-5.209	10.9137	0.47124	0.0:0.8079:0.0:0.1921	.	160;160;104;160	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	H	160;160;104;104;160	ENSP00000359621:Q160H;ENSP00000342698:Q104H;ENSP00000359619:Q160H	ENSP00000304843:Q160H	Q	-	3	2	MCOLN3	85272439	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	0.932000	0.28884	2.777000	0.95525	0.655000	0.94253	CAG		0.408	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
MCOLN3	55283	broad.mit.edu	37	1	85510865	85510865	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85510865G>T	ENST00000370589.2	-	2	231	c.179C>A	c.(178-180)cCa>cAa	p.P60Q	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.P60Q|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P60Q	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	60					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P60Q(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AAGTTTCCATGGTTTTCTACC	0.388																																					p.P60Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179A	1						.						100.0	101.0	101.0					1																	85510865		2203	4300	6503	85283453	SO:0001583	missense	55283	exon2			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.179C>A	1.37:g.85510865G>T	ENSP00000359621:p.Pro60Gln	Somatic		Capture	Illumina HiSeq	Phase_I	85283453	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861248	0.91433	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.61980	0.06;0.06;0.06	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81866	0.4913	M	0.89601	3.045	0.48975	D	0.999731	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85190	0.1009	10	0.87932	D	0	.	19.5127	0.95148	0.0:0.0:1.0:0.0	.	60;60;60	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	Q	60	ENSP00000359621:P60Q;ENSP00000342698:P60Q;ENSP00000359619:P60Q	ENSP00000304843:P60Q	P	-	2	0	MCOLN3	85283453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.614000	0.88457	0.491000	0.48974	CCA		0.388	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
WDR63	126820	broad.mit.edu	37	1	85595793	85595793	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85595793G>A	ENST00000294664.6	+	22	2710	c.2530G>A	c.(2530-2532)Gtt>Att	p.V844I	WDR63_ENST00000370596.1_Missense_Mutation_p.V805I|WDR63_ENST00000326813.8_Missense_Mutation_p.V805I	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	844								p.V844I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGAAAAAAGTTGTAAGTTA	0.323																																					p.V844I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2530A	1						.						59.0	68.0	65.0					1																	85595793		2203	4299	6502	85368381	SO:0001583	missense	126820	exon22				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2530G>A	1.37:g.85595793G>A	ENSP00000294664:p.Val844Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85368381	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	2.571	-0.299588	0.05532	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.39592	1.07;1.07;1.07;1.53	5.43	-5.62	0.02481	.	2.261240	0.02036	N	0.048942	T	0.04363	0.0120	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10847	-1.0612	10	0.35671	T	0.21	1.2347	2.6665	0.05053	0.5029:0.0929:0.1386:0.2657	.	805;844	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	I	805;805;844;126	ENSP00000359628:V805I;ENSP00000317463:V805I;ENSP00000294664:V844I;ENSP00000435544:V126I	ENSP00000294664:V844I	V	+	1	0	WDR63	85368381	0.000000	0.05858	0.005000	0.12908	0.201000	0.24016	-1.116000	0.03286	-1.049000	0.03234	-0.812000	0.03155	GTT		0.323	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
SYDE2	84144	broad.mit.edu	37	1	85648622	85648622	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85648622T>C	ENST00000341460.5	-	3	1752	c.1703A>G	c.(1702-1704)gAa>gGa	p.E568G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	568					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E490G(1)|p.E568G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGATGAACTTCTCGGCAGTT	0.408																																					p.E568G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1703G	1						.						166.0	162.0	163.0					1																	85648622		1845	4098	5943	85421210	SO:0001583	missense	84144	exon3			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1703A>G	1.37:g.85648622T>C	ENSP00000340594:p.Glu568Gly	Somatic		Capture	Illumina HiSeq	Phase_I	85421210	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	5.999	0.368221	0.11352	.	.	ENSG00000097096	ENST00000341460	T	0.09163	3.01	5.41	2.75	0.32379	.	0.288725	0.37136	N	0.002222	T	0.02342	0.0072	N	0.17674	0.51	0.18873	N	0.999981	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.42275	-0.9461	10	0.42905	T	0.14	.	10.511	0.44862	0.0:0.155:0.0:0.845	.	568;568	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	G	568	ENSP00000340594:E568G	ENSP00000340594:E568G	E	-	2	0	SYDE2	85421210	0.995000	0.38212	0.988000	0.46212	0.452000	0.32318	4.134000	0.57990	0.910000	0.36722	0.528000	0.53228	GAA		0.408	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
C1orf52	148423	broad.mit.edu	37	1	85718353	85718353	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85718353G>A	ENST00000471115.1	-	3	516	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	170							poly(A) RNA binding (GO:0044822)	p.R170C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TCTACTTTGCGCTTTTTAGAA	0.313																																					p.R170C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508T	1						.						138.0	123.0	128.0					1																	85718353		2202	4297	6499	85490941	SO:0001583	missense	148423	exon3			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.508C>T	1.37:g.85718353G>A	ENSP00000419417:p.Arg170Cys	Somatic		Capture	Illumina HiSeq	Phase_I	85490941	NM_198077	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747784	0.69533	.	.	ENSG00000162642	ENST00000471115	.	.	.	5.82	4.9	0.64082	.	0.193618	0.44688	N	0.000436	T	0.34774	0.0909	L	0.43152	1.355	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.41520	-0.9504	9	0.87932	D	0	-12.1518	9.8273	0.40919	0.0905:0.0:0.9095:0.0	.	170	Q8N6N3	CA052_HUMAN	C	170	.	ENSP00000419417:R170C	R	-	1	0	C1orf52	85490941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.851000	0.55926	2.756000	0.94617	0.561000	0.74099	CGC		0.313	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077	
BCL10	8915	broad.mit.edu	37	1	85736412	85736412	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:85736412G>T	ENST00000370580.1	-	2	972	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	79	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.L79M(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AGGGTGTCCAGACCTTTTGGG	0.363			T	IGH@	MALT																																p.L79M	NSCLC(34;993 1034 12176 32621 50182)		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235A	1						.						118.0	121.0	120.0					1																	85736412		2203	4300	6503	85509000	SO:0001583	missense	8915	exon2			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.235C>A	1.37:g.85736412G>T	ENSP00000359612:p.Leu79Met	Somatic		Capture	Illumina HiSeq	Phase_I	85509000	NM_003921	Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187617	0.78789	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.51071	0.72	5.99	5.05	0.67936	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.59004	0.2162	L	0.56769	1.78	0.53005	D	0.99996	D	0.76494	0.999	D	0.72982	0.979	T	0.59695	-0.7406	10	0.66056	D	0.02	-7.8558	16.6949	0.85333	0.0:0.0:0.8701:0.1299	.	79	O95999	BCL10_HUMAN	M	79	ENSP00000359612:L79M	ENSP00000271015:L79M	L	-	1	2	BCL10	85509000	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.879000	0.63100	2.840000	0.97914	0.655000	0.94253	CTG		0.363	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921	
ZNHIT6	54680	broad.mit.edu	37	1	86144405	86144405	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:86144405G>T	ENST00000370574.3	-	7	1281	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.S344Y			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	383					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.S383Y(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TACAGGATCAGACTTTTCAGG	0.274																																					p.S344Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031A	1						.						115.0	119.0	118.0					1																	86144405		2202	4295	6497	85916993	SO:0001583	missense	54680	exon8			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1148C>A	1.37:g.86144405G>T	ENSP00000359606:p.Ser383Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	85916993	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142732	0.77888	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48836	0.84;0.8	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.60455	1.87	0.45272	D	0.998274	D;D	0.89917	0.997;1.0	P;D	0.78314	0.903;0.991	T	0.62987	-0.6737	10	0.87932	D	0	-14.0168	18.4407	0.90665	0.0:0.0:1.0:0.0	.	344;383	B4DP13;Q9NWK9	.;BCD1_HUMAN	Y	344;383	ENSP00000414344:S344Y;ENSP00000359606:S383Y	ENSP00000359606:S383Y	S	-	2	0	ZNHIT6	85916993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.942000	0.70203	2.714000	0.92807	0.655000	0.94253	TCT		0.274	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
COL24A1	255631	broad.mit.edu	37	1	86196342	86196342	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:86196342G>A	ENST00000370571.2	-	60	5398	c.5032C>T	c.(5032-5034)Ctt>Ttt	p.L1678F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L1657F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1678	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.L1678F(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTGTGAAAAAGAAATGTTGCC	0.373																																					p.L1678F												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C5032T	1						.						146.0	137.0	139.0					1																	86196342		1889	4104	5993	85968930	SO:0001583	missense	255631	exon60			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.5032C>T	1.37:g.86196342G>A	ENSP00000359603:p.Leu1678Phe	Somatic		Capture	Illumina HiSeq	Phase_I	85968930	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736140	0.15574	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.73152	-0.72;-0.72	5.58	5.58	0.84498	Fibrillar collagen, C-terminal (4);	0.000000	0.37809	N	0.001927	T	0.41282	0.1152	L	0.31752	0.955	0.30966	N	0.723124	B;B	0.15719	0.014;0.011	B;B	0.21360	0.034;0.02	T	0.12734	-1.0536	10	0.18710	T	0.47	.	13.279	0.60205	0.0817:0.0:0.9183:0.0	.	1678;1657	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	F	1678;1657	ENSP00000359603:L1678F;ENSP00000392531:L1657F	ENSP00000359603:L1678F	L	-	1	0	COL24A1	85968930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.870000	0.28010	2.636000	0.89361	0.650000	0.86243	CTT		0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
ODF2L	57489	broad.mit.edu	37	1	86850466	86850466	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:86850466T>G	ENST00000359242.3	-	4	546	c.265A>C	c.(265-267)Aat>Cat	p.N89H	ODF2L_ENST00000370566.3_Missense_Mutation_p.N89H|ODF2L_ENST00000317336.7_Missense_Mutation_p.N89H|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.N89H|ODF2L_ENST00000370567.1_Missense_Mutation_p.N89H	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	89						centrosome (GO:0005813)		p.N89H(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		ATCTTCAAATTCAATGCAGAA	0.279																																					p.N89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A265C	1						.						54.0	53.0	53.0					1																	86850466		2202	4284	6486	86623054	SO:0001583	missense	57489	exon4				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.265A>C	1.37:g.86850466T>G	ENSP00000359600:p.Asn89His	Somatic		Capture	Illumina HiSeq	Phase_I	86623054	NM_001007022	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	T	0.716	-0.785216	0.02907	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T	0.24908	1.83;1.84;1.84;1.84;1.83	5.17	1.43	0.22495	.	2.459430	0.01409	N	0.013911	T	0.16599	0.0399	L	0.40543	1.245	0.09310	N	0.999998	B;D;P;D;D	0.61080	0.372;0.975;0.797;0.974;0.989	B;P;P;P;P	0.56751	0.249;0.641;0.548;0.568;0.805	T	0.05241	-1.0897	10	0.38643	T	0.18	-1.0E-4	4.0073	0.09607	0.3218:0.0891:0.0:0.5892	.	89;89;89;89;89	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	H	89	ENSP00000359597:N89H;ENSP00000359600:N89H;ENSP00000320165:N89H;ENSP00000359598:N89H;ENSP00000294678:N89H	ENSP00000294678:N89H	N	-	1	0	ODF2L	86623054	0.001000	0.12720	0.022000	0.16811	0.364000	0.29643	0.762000	0.26503	0.048000	0.15891	0.451000	0.29950	AAT		0.279	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
CLCA1	1179	broad.mit.edu	37	1	86959126	86959126	+	Silent	SNP	G	G	A	rs541507952		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:86959126G>A	ENST00000234701.3	+	11	1875	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	CLCA1_ENST00000394711.1_Silent_p.V508V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	508					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.V508V(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAGTGATCGTGGACAGCACCG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19382	0.0		0.0	False		,,,				2504	0.001				p.V508V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1524A	1						.						177.0	140.0	153.0					1																	86959126		2203	4300	6503	86731714	SO:0001819	synonymous_variant	1179	exon10				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1524G>A	1.37:g.86959126G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86731714	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.488	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA4	22802	broad.mit.edu	37	1	87036853	87036853	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:87036853G>A	ENST00000370563.3	+	8	1318	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000496322.1_3'UTR|CLCA4_ENST00000263723.5_Missense_Mutation_p.V139M	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.V426M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TATTGATGAAGTGAAACAAAG	0.433																																					p.V426M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	1						.						270.0	257.0	261.0					1																	87036853		1941	4144	6085	86809441	SO:0001583	missense	22802	exon8			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1276G>A	1.37:g.87036853G>A	ENSP00000359594:p.Val426Met	Somatic		Capture	Illumina HiSeq	Phase_I	86809441	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478381	0.44044	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.14893	2.47;2.47	6.17	5.26	0.73747	von Willebrand factor, type A (3);	0.142736	0.46442	N	0.000297	T	0.30230	0.0758	M	0.83118	2.625	0.21325	N	0.999728	D	0.89917	1.0	D	0.87578	0.998	T	0.31724	-0.9933	10	0.66056	D	0.02	-11.0393	10.4318	0.44411	0.1491:0.0:0.8509:0.0	.	426	Q14CN2	CLCA4_HUMAN	M	426;139	ENSP00000359594:V426M;ENSP00000263723:V139M	ENSP00000263723:V139M	V	+	1	0	CLCA4	86809441	0.999000	0.42202	0.051000	0.19133	0.226000	0.24999	4.220000	0.58567	1.620000	0.50308	0.655000	0.94253	GTG		0.433	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
RBMXL1	494115	broad.mit.edu	37	1	89448518	89448518	+	Missense_Mutation	SNP	C	C	T	rs549912567		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89448518C>T	ENST00000321792.5	-	2	1419	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	RBMXL1_ENST00000413769.1_5'Flank|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R331Q|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	331	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R331Q(2)									GAGATCACTTCGGCTGCTTGA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		22019	0.0		0.0	False		,,,				2504	0.001				p.R331Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G992A	1						.						189.0	189.0	189.0					1																	89448518		2203	4300	6503	89221106	SO:0001583	missense	56267	exon2			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.992G>A	1.37:g.89448518C>T	ENSP00000318415:p.Arg331Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89221106	NM_019610		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206347	0.58343	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.80566	-1.39;-1.39	1.89	0.913	0.19354	.	0.000000	0.64402	D	0.000001	T	0.53965	0.1829	L	0.55834	1.745	0.29706	N	0.839769	D	0.59767	0.986	B	0.39904	0.313	T	0.51204	-0.8735	10	0.40728	T	0.16	-5.3669	5.8921	0.18919	0.0:0.812:0.0:0.188	.	331	Q96E39	RBMXL_HUMAN	Q	331	ENSP00000318415:R331Q;ENSP00000446099:R331Q	ENSP00000318415:R331Q	R	-	2	0	RBMXL1	89221106	1.000000	0.71417	0.797000	0.32132	0.928000	0.56348	4.995000	0.63908	0.132000	0.18615	0.306000	0.20318	CGA		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
GBP4	115361	broad.mit.edu	37	1	89659057	89659057	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89659057A>G	ENST00000355754.6	-	4	499	c.402T>C	c.(400-402)gcT>gcC	p.A134A		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	134	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A134A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TTAGAAGCACAGCCAGGGCAA	0.448																																					p.A134A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T402C	1						.						131.0	128.0	129.0					1																	89659057		2203	4300	6503	89431645	SO:0001819	synonymous_variant	115361	exon4			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.402T>C	1.37:g.89659057A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89431645	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	CCDS721.1																																																																																				0.448	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
GBP5	115362	broad.mit.edu	37	1	89729594	89729594	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89729594C>T	ENST00000370459.3	-	8	1314	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	GBP5_ENST00000343435.5_Missense_Mutation_p.R396Q|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	396						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.R396Q(2)|p.R396L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTCCAGGTTCCGTTTACAAAT	0.378																																					p.R396Q												.	.	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.G1187A	1						.						149.0	154.0	152.0					1																	89729594		2203	4300	6503	89502182	SO:0001583	missense	115362	exon9			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1187G>A	1.37:g.89729594C>T	ENSP00000359488:p.Arg396Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89502182	NM_052942	B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	3.127	-0.179178	0.06380	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.01887	4.58;4.58;4.58	5.12	0.0489	0.14287	Guanylate-binding protein, C-terminal (3);	0.629498	0.16323	N	0.219453	T	0.00241	0.0007	N	0.01096	-1.015	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.33803	-0.9854	10	0.02654	T	1	-0.6986	9.0836	0.36567	0.0:0.5267:0.0:0.4733	.	396	Q96PP8	GBP5_HUMAN	Q	396	ENSP00000340396:R396Q;ENSP00000359488:R396Q;ENSP00000403010:R396Q	ENSP00000340396:R396Q	R	-	2	0	GBP5	89502182	0.418000	0.25440	0.025000	0.17156	0.005000	0.04900	-0.040000	0.12104	-0.039000	0.13602	-0.414000	0.06135	CGG		0.378	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
GBP6	163351	broad.mit.edu	37	1	89846021	89846022	+	Missense_Mutation	DNP	CG	CG	TA	rs546609836	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89846021_89846022CG>TA	ENST00000370456.4	+	6	795_796	c.702_703CG>TA	c.(700-705)ttCGtc>ttTAtc	p.V235I	GBP6_ENST00000535065.1_Missense_Mutation_p.V105I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	235	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F234>?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAAGTGTTTCGTCTTTGACCG	0.411																																					.												.	.	1	Complex(1)	large_intestine(1)	c.702_703TA	1						NA																																			89618610	SO:0001583	missense	163351	exon6			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	Exception_encountered	1.37:g.89846021_89846022delinsTA	ENSP00000359485:p.Val235Ile	Somatic		Capture	Illumina HiSeq	Phase_I	89618609	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	DNP	ENST00000370456.4	37	CCDS723.1																																																																																				0.411	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
GBP6	163351	broad.mit.edu	37	1	89849751	89849751	+	Missense_Mutation	SNP	G	G	A	rs115489421	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89849751G>A	ENST00000370456.4	+	10	1661	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	GBP6_ENST00000535065.1_Missense_Mutation_p.R393H	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	523					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R523H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GATAAGAGTCGCAAGGAAAAC	0.478													T|||	2	0.000399361	0.0015	0.0	5008	,	,		19956	0.0		0.0	False		,,,				2504	0.0				p.R523H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1568A	1						.	T	HIS/ARG	9,4397		0,9,2194	100.0	87.0	91.0		1568	1.0	0.0	1	dbSNP_132	91	0,8600		0,0,4300	yes	missense	GBP6	NM_198460.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	523/634	89849751	9,12997	2203	4300	6503	89622339	SO:0001583	missense	163351	exon10			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1568G>A	1.37:g.89849751G>A	ENSP00000359485:p.Arg523His	Somatic		Capture	Illumina HiSeq	Phase_I	89622339	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273184	0.23221	0.002043	0.0	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.52057	0.68;0.68	5.13	0.978	0.19740	Guanylate-binding protein, C-terminal (3);	1.040010	0.07651	N	0.931952	T	0.04497	0.0123	N	0.00661	-1.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	10	0.15952	T	0.53	0.2039	6.1932	0.20536	0.6008:0.0:0.127:0.2722	.	523	Q6ZN66	GBP6_HUMAN	H	494;523;393	ENSP00000359485:R523H;ENSP00000442530:R393H	ENSP00000359485:R523H	R	+	2	0	GBP6	89622339	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.033000	0.12246	-0.039000	0.13602	-0.335000	0.08231	CGC		0.478	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
ZNF326	284695	broad.mit.edu	37	1	90482907	90482907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:90482907C>T	ENST00000340281.4	+	8	1101	c.958C>T	c.(958-960)Cga>Tga	p.R320*	ZNF326_ENST00000370447.3_Nonsense_Mutation_p.R231*|ZNF326_ENST00000455342.2_Nonsense_Mutation_p.R114*	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	320					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.R320*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TTGTAAATTTCGAACATTTGA	0.254																																					p.R320X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C958T	1						.						42.0	43.0	43.0					1																	90482907		2201	4290	6491	90255495	SO:0001587	stop_gained	284695	exon8			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.958C>T	1.37:g.90482907C>T	ENSP00000340796:p.Arg320*	Somatic		Capture	Illumina HiSeq	Phase_I	90255495	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Nonsense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	C	38	7.139168	0.98088	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	.	.	.	5.48	5.48	0.80851	.	0.082779	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.005	19.3839	0.94548	0.0:1.0:0.0:0.0	.	.	.	.	X	320;320;231;114	.	ENSP00000340796:R320X	R	+	1	2	ZNF326	90255495	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.180000	0.71981	2.578000	0.87016	0.650000	0.86243	CGA		0.254	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
HFM1	164045	broad.mit.edu	37	1	91784881	91784881	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:91784881C>A	ENST00000370425.3	-	24	2747	c.2649G>T	c.(2647-2649)aaG>aaT	p.K883N	HFM1_ENST00000294696.5_Missense_Mutation_p.K115N|HFM1_ENST00000370424.3_Missense_Mutation_p.K562N|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	883	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K883N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCTGAAAATCTTTGCGGTAT	0.338																																					p.K883N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2649T	1						.						114.0	108.0	110.0					1																	91784881		2203	4300	6503	91557469	SO:0001583	missense	164045	exon24			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2649G>T	1.37:g.91784881C>A	ENSP00000359454:p.Lys883Asn	Somatic		Capture	Illumina HiSeq	Phase_I	91557469	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553332|1.553332	0.27739|0.27739	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.0|5.0	0.867|0.867	0.19085|0.19085	Sec63 domain (2);|.	0.053030|.	0.64402|.	D|.	0.000001|.	T|T	0.50069|0.50069	0.1594|0.1594	M|M	0.66939|0.66939	2.045|2.045	0.39273|0.39273	D|D	0.964426|0.964426	D;D;D|.	0.89917|.	0.992;1.0;0.996|.	P;D;D|.	0.79784|.	0.764;0.993;0.957|.	T|T	0.51060|0.51060	-0.8753|-0.8753	10|5	0.44086|.	T|.	0.13|.	.|.	10.7462|10.7462	0.46181|0.46181	0.0:0.6282:0.0:0.3718|0.0:0.6282:0.0:0.3718	.|.	562;138;883|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	N|I	883;115;562;567|139	ENSP00000359454:K883N;ENSP00000294696:K115N;ENSP00000359453:K562N|.	ENSP00000294696:K115N|.	K|R	-|-	3|2	2|0	HFM1|HFM1	91557469|91557469	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.426000|0.426000	0.31534|0.31534	1.260000|1.260000	0.32968|0.32968	0.217000|0.217000	0.20800|0.20800	-0.142000|-0.142000	0.14014|0.14014	AAG|AGA		0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91844691	91844691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:91844691C>A	ENST00000370425.3	-	9	1185	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E42*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	363	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E363*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAGTAAGTTCTTTACAATTC	0.323																																					p.E363X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1087T	1						.						87.0	83.0	84.0					1																	91844691		2203	4299	6502	91617279	SO:0001587	stop_gained	164045	exon9			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1087G>T	1.37:g.91844691C>A	ENSP00000359454:p.Glu363*	Somatic		Capture	Illumina HiSeq	Phase_I	91617279	NM_001017975	B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	37	6.538202	0.97646	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	.	.	.	5.66	5.66	0.87406	.	0.000000	0.40064	U	0.001182	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7394	0.96219	0.0:1.0:0.0:0.0	.	.	.	.	X	363;42;47;396	.	ENSP00000359450:E47X	E	-	1	0	HFM1	91617279	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.649000	0.89929	0.563000	0.77884	GAA		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
BRDT	676	broad.mit.edu	37	1	92446926	92446926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:92446926C>T	ENST00000362005.3	+	12	2270	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	BRDT_ENST00000370389.2_Missense_Mutation_p.R545C|BRDT_ENST00000399546.2_Missense_Mutation_p.R618C|BRDT_ENST00000402388.1_Missense_Mutation_p.R618C|BRDT_ENST00000394530.3_Missense_Mutation_p.R572C	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	618					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.R618C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTAGAAAACGTCAAACAAA	0.348																																					p.R618C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1852T	1						.						67.0	67.0	67.0					1																	92446926		2203	4300	6503	92219514	SO:0001583	missense	676	exon11			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1852C>T	1.37:g.92446926C>T	ENSP00000354568:p.Arg618Cys	Somatic		Capture	Illumina HiSeq	Phase_I	92219514	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014418	0.19277	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.62	-0.85	0.10720	.	0.793086	0.11368	N	0.571233	T	0.04770	0.0129	L	0.31926	0.97	0.20403	N	0.999901	B;B;B;B	0.13594	0.008;0.008;0.001;0.003	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.40270	-0.9572	10	0.52906	T	0.07	-0.0461	6.0576	0.19820	0.1144:0.5634:0.0:0.3221	.	572;572;622;618	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	C	618;545;618;572;618	ENSP00000354568:R618C;ENSP00000359416:R545C;ENSP00000387822:R618C;ENSP00000378038:R572C;ENSP00000384051:R618C	ENSP00000354568:R618C	R	+	1	0	BRDT	92219514	0.036000	0.19791	0.003000	0.11579	0.798000	0.45092	0.264000	0.18497	-0.328000	0.08539	0.650000	0.86243	CGT		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
EPHX4	253152	broad.mit.edu	37	1	92528676	92528676	+	Missense_Mutation	SNP	G	G	A	rs373441880		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:92528676G>A	ENST00000370383.4	+	7	1020	c.922G>A	c.(922-924)Gca>Aca	p.A308T		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	308						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.A308T(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						AGAGAATGACGCATTCATGGA	0.418																																					p.A308T	GBM(140;473 1857 5172 22066 49719)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	1						.	G	THR/ALA	0,4406		0,0,2203	133.0	137.0	135.0		922	5.8	1.0	1		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHX4	NM_173567.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	308/363	92528676	1,13005	2203	4300	6503	92301264	SO:0001583	missense	253152	exon7			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.922G>A	1.37:g.92528676G>A	ENSP00000359410:p.Ala308Thr	Somatic		Capture	Illumina HiSeq	Phase_I	92301264	NM_173567	Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261815	0.39995	0.0	1.16E-4	ENSG00000172031	ENST00000370383	T	0.66638	-0.22	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	N	0.17674	0.51	0.80722	D	1	B	0.32829	0.386	B	0.22753	0.041	T	0.32161	-0.9917	10	0.11794	T	0.64	.	16.3956	0.83604	0.0:0.1315:0.8685:0.0	.	308	Q8IUS5	EPHX4_HUMAN	T	308	ENSP00000359410:A308T	ENSP00000359410:A308T	A	+	1	0	EPHX4	92301264	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	6.167000	0.71902	2.756000	0.94617	0.650000	0.86243	GCA		0.418	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
RPAP2	79871	broad.mit.edu	37	1	92801968	92801968	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:92801968C>A	ENST00000610020.1	+	10	1712	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	535					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.L535I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACTTAAAAATCTTGTTCGAAC	0.303																																					p.L535I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603A	1						.						73.0	78.0	77.0					1																	92801968		2203	4297	6500	92574556	SO:0001583	missense	79871	exon10			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1603C>A	1.37:g.92801968C>A	ENSP00000476948:p.Leu535Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92574556	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950893	0.73787	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.059223	0.64402	D	0.000002	T	0.76271	0.3964	M	0.78801	2.425	0.32833	D	0.504329	D	0.76494	0.999	D	0.80764	0.994	T	0.78715	-0.2096	8	0.87932	D	0	-15.2308	16.6519	0.85218	0.0:1.0:0.0:0.0	.	535	Q8IXW5	RPAP2_HUMAN	I	535	.	ENSP00000359368:L535I	L	+	1	0	RPAP2	92574556	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	3.183000	0.50918	2.720000	0.93068	0.650000	0.86243	CTT		0.303	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
EVI5	7813	broad.mit.edu	37	1	93091446	93091446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:93091446C>A	ENST00000370331.1	-	13	1534	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	EVI5_ENST00000540033.1_Nonsense_Mutation_p.E509*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.E520*|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	509	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E509*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATGAGTTCTTCCTGAAGCCTT	0.348																																					p.E509X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1525T	1						.						118.0	112.0	114.0					1																	93091446		2203	4300	6503	92864034	SO:0001587	stop_gained	7813	exon13			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1525G>T	1.37:g.93091446C>A	ENSP00000359356:p.Glu509*	Somatic		Capture	Illumina HiSeq	Phase_I	92864034	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Nonsense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	38	6.934630	0.97948	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	.	.	.	5.76	5.76	0.90799	.	0.055045	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.3976	19.9596	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	509;509;520;208	.	ENSP00000345500:E208X	E	-	1	0	EVI5	92864034	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.487000	0.81328	2.723000	0.93209	0.585000	0.79938	GAA		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
EVI5	7813	broad.mit.edu	37	1	93170186	93170186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:93170186C>A	ENST00000370331.1	-	3	406	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	EVI5_ENST00000540033.1_Missense_Mutation_p.D133Y|EVI5_ENST00000543509.1_Missense_Mutation_p.D133Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	133	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D133Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATCCAAGAATCTTCTTCAAGG	0.383																																					p.D133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397T	1						.						169.0	175.0	173.0					1																	93170186		2203	4300	6503	92942774	SO:0001583	missense	7813	exon3			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.397G>T	1.37:g.93170186C>A	ENSP00000359356:p.Asp133Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	92942774	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864672	0.91511	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05996	3.36;3.36;3.37	5.62	5.62	0.85841	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00613	-1.1644	10	0.87932	D	0	-17.3215	19.6702	0.95909	0.0:1.0:0.0:0.0	.	133;133	F5H4R0;O60447	.;EVI5_HUMAN	Y	133	ENSP00000359356:D133Y;ENSP00000440826:D133Y;ENSP00000445019:D133Y	ENSP00000359356:D133Y	D	-	1	0	EVI5	92942774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.665000	0.90641	0.650000	0.86243	GAT		0.383	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
MTF2	22823	broad.mit.edu	37	1	93575850	93575850	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:93575850G>T	ENST00000370298.4	+	2	358	c.69G>T	c.(67-69)aaG>aaT	p.K23N	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.K23N|MTF2_ENST00000545708.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	23					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K23N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAAACCAAAAGACCCCAACAT	0.438																																					p.K23N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G69T	1						.						127.0	125.0	126.0					1																	93575850		2203	4300	6503	93348438	SO:0001583	missense	22823	exon2			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.69G>T	1.37:g.93575850G>T	ENSP00000359321:p.Lys23Asn	Somatic		Capture	Illumina HiSeq	Phase_I	93348438	NM_007358	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076182	0.76415	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	T;T	0.23754	1.89;1.9	5.44	5.44	0.79542	.	0.262756	0.42964	D	0.000630	T	0.21307	0.0513	L	0.51422	1.61	0.80722	D	1	D;P	0.64830	0.994;0.915	P;B	0.52554	0.702;0.397	T	0.01753	-1.1281	10	0.18710	T	0.47	-6.9044	13.5477	0.61713	0.0744:0.0:0.9256:0.0	.	23;23	B1AKT6;Q9Y483	.;MTF2_HUMAN	N	23	ENSP00000359321:K23N;ENSP00000359326:K23N	ENSP00000359321:K23N	K	+	3	2	MTF2	93348438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.232000	0.72313	2.563000	0.86464	0.557000	0.71058	AAG		0.438	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
CCDC18	343099	broad.mit.edu	37	1	93672795	93672795	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:93672795A>C	ENST00000343253.7	+	9	1551	c.1049A>C	c.(1048-1050)aAa>aCa	p.K350T	CCDC18_ENST00000401026.3_Missense_Mutation_p.K350T|CCDC18_ENST00000557479.1_Missense_Mutation_p.K468T|CCDC18_ENST00000338949.4_Missense_Mutation_p.K149T|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	350								p.K468T(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTAGAGAACAAAGACGAAATA	0.348																																					p.K468T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1403C	1						.						62.0	57.0	59.0					1																	93672795		1833	4080	5913	93445383	SO:0001583	missense	343099	exon9					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1049A>C	1.37:g.93672795A>C	ENSP00000343377:p.Lys350Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93445383	NM_206886	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989655|3.989655	0.74589|0.74589	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T|T;T;T;T;T	0.19806|0.19250	2.12|2.16;2.16;2.16;2.16;2.16	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.180237|0.180237	0.53938|0.53938	D|D	0.000055|0.000055	T|T	0.27967|0.27967	0.0689|0.0689	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69479	.|0.964;0.964	T|T	0.07578|0.07578	-1.0765|-1.0765	8|10	0.16420|0.13853	T|T	0.52|0.58	.|.	14.7698|14.7698	0.69668|0.69668	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|350;468	.|Q5T9S5;G3V388	.|CCD18_HUMAN;.	Q|T	404|350;350;468;149;70	ENSP00000359299:K404Q|ENSP00000343377:K350T;ENSP00000383808:K350T;ENSP00000451099:K468T;ENSP00000344380:K149T;ENSP00000391151:K70T	ENSP00000359299:K404Q|ENSP00000344380:K149T	K|K	+|+	1|2	0|0	CCDC18|CCDC18	93445383|93445383	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	3.976000|3.976000	0.56867|0.56867	2.230000|2.230000	0.72887|0.72887	0.454000|0.454000	0.30748|0.30748	AAG|AAA		0.348	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
CCDC18	343099	broad.mit.edu	37	1	93711663	93711663	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:93711663G>T	ENST00000343253.7	+	22	3482	c.2980G>T	c.(2980-2982)Gaa>Taa	p.E994*	CCDC18_ENST00000401026.3_Splice_Site_p.E995*|CCDC18_ENST00000557479.1_Splice_Site_p.E1113*|CCDC18_ENST00000338949.4_Splice_Site_p.E750*|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	994								p.E1113*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTGTAGAGAATGCAAGAT	0.353																																					p.E1113X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3337T	1						.						105.0	103.0	104.0					1																	93711663		1811	4065	5876	93484251	SO:0001630	splice_region_variant	343099	exon22					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2979-1G>T	1.37:g.93711663G>T		Somatic		Capture	Illumina HiSeq	Phase_I	93484251	NM_206886	Q6ZU17	Nonsense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.474987|10.474987	0.99412|0.99412	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.605723|0.605723	0.17287|0.17287	N|N	0.179781|0.179781	T|.	0.49184|.	0.1542|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36915|.	-0.9728|.	5|.	.|0.23302	.|T	.|0.38	.|.	13.8379|13.8379	0.63421|0.63421	0.0:0.0:0.7452:0.2548|0.0:0.0:0.7452:0.2548	.|.	.|.	.|.	.|.	D|X	1047|994;995;1113;750;670	.|.	.|ENSP00000344380:E750X	E|E	+|+	3|1	2|0	CCDC18|CCDC18	93484251|93484251	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.870000|0.870000	0.49936|0.49936	1.460000|1.460000	0.35244|0.35244	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Nonsense_Mutation
FNBP1L	54874	broad.mit.edu	37	1	94012483	94012483	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94012483G>A	ENST00000271234.7	+	13	1510	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	FNBP1L_ENST00000260506.8_Silent_p.E395E|FNBP1L_ENST00000370253.2_Silent_p.E395E|FNBP1L_ENST00000370256.4_Silent_p.E448E|FNBP1L_ENST00000604705.1_Silent_p.E453E	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	453	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E395E(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AATTAGCAGAGACCATGAATA	0.353																																					p.E395E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1185A	1						.						56.0	56.0	56.0					1																	94012483		1850	4085	5935	93785071	SO:0001819	synonymous_variant	54874	exon11				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1359G>A	1.37:g.94012483G>A		Somatic		Capture	Illumina HiSeq	Phase_I	93785071	NM_001024948	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	37	CCDS53343.1																																																																																				0.353	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737	
DNTTIP2	30836	broad.mit.edu	37	1	94342047	94342047	+	Missense_Mutation	SNP	G	G	T	rs199790229	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94342047G>T	ENST00000436063.2	-	2	1501	c.1444C>A	c.(1444-1446)Ctg>Atg	p.L482M	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L482M(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCACATGACAGACTTCCTGTG	0.393																																					p.L482M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1444A	1						.						99.0	95.0	96.0					1																	94342047		1965	4167	6132	94114635	SO:0001583	missense	30836	exon2			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1444C>A	1.37:g.94342047G>T	ENSP00000411010:p.Leu482Met	Somatic		Capture	Illumina HiSeq	Phase_I	94114635	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	0.879	-0.729236	0.03135	.	.	ENSG00000067334	ENST00000436063	T	0.15017	2.46	4.84	-9.68	0.00528	.	2.356170	0.01635	N	0.023730	T	0.01029	0.0034	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.45353	T	0.12	.	2.4093	0.04420	0.1668:0.343:0.261:0.2292	.	482	Q5QJE6	TDIF2_HUMAN	M	482	ENSP00000411010:L482M	ENSP00000352137:L482M	L	-	1	2	DNTTIP2	94114635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.805000	0.01737	-2.524000	0.00495	-1.749000	0.00680	CTG		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
DNTTIP2	30836	broad.mit.edu	37	1	94342647	94342647	+	Missense_Mutation	SNP	C	C	T	rs200584102		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94342647C>T	ENST00000436063.2	-	2	901	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E282K(2)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTGGCCTGTTCGTGCACTGTT	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20164	0.0		0.0	False		,,,				2504	0.0				p.E282K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G844A	1						.	C	LYS/GLU	8,3626		0,8,1809	70.0	60.0	63.0		844	-0.6	0.0	1		63	1,8147		0,1,4073	yes	missense	DNTTIP2	NM_014597.4	56	0,9,5882	TT,TC,CC		0.0123,0.2201,0.0764	benign	282/757	94342647	9,11773	1817	4074	5891	94115235	SO:0001583	missense	30836	exon2			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.844G>A	1.37:g.94342647C>T	ENSP00000411010:p.Glu282Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94115235	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.012	-1.665318	0.00765	0.002201	1.23E-4	ENSG00000067334	ENST00000436063	T	0.14766	2.48	4.65	-0.615	0.11587	.	1.705140	0.03066	N	0.156525	T	0.00845	0.0028	N	0.02111	-0.68	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31081	-0.9956	10	0.02654	T	1	.	1.2301	0.01941	0.1415:0.2872:0.1458:0.4255	.	282	Q5QJE6	TDIF2_HUMAN	K	282	ENSP00000411010:E282K	ENSP00000352137:E282K	E	-	1	0	DNTTIP2	94115235	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.784000	0.04633	-0.236000	0.09753	-0.302000	0.09304	GAA		0.328	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
GCLM	2730	broad.mit.edu	37	1	94362331	94362331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94362331G>A	ENST00000370238.3	-	5	629	c.383C>T	c.(382-384)gCt>gTt	p.A128V	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	128					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.A128V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	AGGAGGTGAAGCAATGATCAC	0.383																																					p.A128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	1						.						93.0	93.0	93.0					1																	94362331		2203	4300	6503	94134919	SO:0001583	missense	2730	exon5			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.383C>T	1.37:g.94362331G>A	ENSP00000359258:p.Ala128Val	Somatic		Capture	Illumina HiSeq	Phase_I	94134919	NM_002061	A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	37	CCDS746.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507292	0.96386	.	.	ENSG00000023909	ENST00000370238	T	0.42900	0.96	5.5	5.5	0.81552	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.62277	-0.6888	10	0.42905	T	0.14	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	128	P48507	GSH0_HUMAN	V	128	ENSP00000359258:A128V	ENSP00000359258:A128V	A	-	2	0	GCLM	94134919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.748000	0.94277	0.655000	0.94253	GCT		0.383	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061	
ABCA4	24	broad.mit.edu	37	1	94480237	94480237	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94480237G>T	ENST00000370225.3	-	38	5408	c.5322C>A	c.(5320-5322)gtC>gtA	p.V1774V	ABCA4_ENST00000536513.1_Silent_p.V44V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1774					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1774V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCATGGGAATGACCGCCCATC	0.478																																					p.V1774V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5322A	1						.						202.0	172.0	182.0					1																	94480237		2203	4300	6503	94252825	SO:0001819	synonymous_variant	24	exon38			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5322C>A	1.37:g.94480237G>T		Somatic		Capture	Illumina HiSeq	Phase_I	94252825	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.478	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94546200	94546200	+	Silent	SNP	G	G	T	rs61753056		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94546200G>T	ENST00000370225.3	-	8	1019	c.933C>A	c.(931-933)acC>acA	p.T311T	ABCA4_ENST00000535735.1_Silent_p.T311T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	311					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.T311T(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTTTGTAAAGGTCTCTGGAC	0.542																																					p.T311T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933A	1						.						96.0	88.0	91.0					1																	94546200		2203	4300	6503	94318788	SO:0001819	synonymous_variant	24	exon8			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.933C>A	1.37:g.94546200G>T		Somatic		Capture	Illumina HiSeq	Phase_I	94318788	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ARHGAP29	9411	broad.mit.edu	37	1	94643197	94643197	+	Missense_Mutation	SNP	G	G	A	rs377417799		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94643197G>A	ENST00000260526.6	-	22	3058	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	959					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.A959V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTCCTAACGCATTTTGCTT	0.353																																					p.A959V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2876T	1						.	G	VAL/ALA	0,4406		0,0,2203	145.0	133.0	137.0		2876	3.7	0.6	1		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP29	NM_004815.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	959/1262	94643197	1,13005	2203	4300	6503	94415785	SO:0001583	missense	9411	exon22				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2876C>T	1.37:g.94643197G>A	ENSP00000260526:p.Ala959Val	Somatic		Capture	Illumina HiSeq	Phase_I	94415785	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	6.959	0.546888	0.13312	0.0	1.16E-4	ENSG00000137962	ENST00000260526	T	0.23348	1.91	5.55	3.68	0.42216	.	0.864816	0.09623	N	0.777282	T	0.06280	0.0162	L	0.36672	1.1	0.20403	N	0.999904	B;P	0.37636	0.0;0.603	B;B	0.19946	0.002;0.027	T	0.22977	-1.0201	10	0.34782	T	0.22	-2.3988	9.5572	0.39346	0.2145:0.0:0.7855:0.0	.	959;959	F8VWZ8;Q52LW3	.;RHG29_HUMAN	V	959	ENSP00000260526:A959V	ENSP00000260526:A959V	A	-	2	0	ARHGAP29	94415785	0.000000	0.05858	0.583000	0.28640	0.149000	0.21700	0.472000	0.22116	0.829000	0.34733	0.655000	0.94253	GCG		0.353	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
ARHGAP29	9411	broad.mit.edu	37	1	94667365	94667365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:94667365C>A	ENST00000260526.6	-	12	1374	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	398					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.E398*(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCTTCTTTCTTCAACATTT	0.294																																					p.E398X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	1						.						140.0	135.0	137.0					1																	94667365		2203	4300	6503	94439953	SO:0001587	stop_gained	9411	exon12				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1192G>T	1.37:g.94667365C>A	ENSP00000260526:p.Glu398*	Somatic		Capture	Illumina HiSeq	Phase_I	94439953	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Nonsense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102777	0.97286	.	.	ENSG00000137962	ENST00000260526	.	.	.	5.93	5.93	0.95920	.	0.000000	0.37393	N	0.002115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-21.4889	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	398	.	ENSP00000260526:E398X	E	-	1	0	ARHGAP29	94439953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.300000	0.65721	2.826000	0.97356	0.655000	0.94253	GAA		0.294	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
SLC44A3	126969	broad.mit.edu	37	1	95330337	95330337	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:95330337C>T	ENST00000271227.6	+	11	1379	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.S346F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.S378F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.S390F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.S358F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.S394F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	426					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S426F(1)|p.S378F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCCTTTCGTCTCTCTCCATT	0.383																																					p.S426F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1277T	1						.						207.0	195.0	199.0					1																	95330337		2203	4300	6503	95102925	SO:0001583	missense	126969	exon11			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1277C>T	1.37:g.95330337C>T	ENSP00000271227:p.Ser426Phe	Somatic		Capture	Illumina HiSeq	Phase_I	95102925	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885860	0.91814	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000006	T	0.58323	0.2114	M	0.87900	2.915	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.979;0.997;0.979;0.995;0.999	T	0.65344	-0.6191	10	0.87932	D	0	-26.678	19.6846	0.95976	0.0:1.0:0.0:0.0	.	346;390;358;394;426	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	F	390;426;358;394;378;346	ENSP00000389143:S390F;ENSP00000271227:S426F;ENSP00000433641:S358F;ENSP00000431836:S394F;ENSP00000432789:S378F;ENSP00000436661:S346F	ENSP00000271227:S426F	S	+	2	0	SLC44A3	95102925	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	5.335000	0.65929	2.644000	0.89710	0.655000	0.94253	TCT		0.383	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
PTBP2	58155	broad.mit.edu	37	1	97235266	97235266	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:97235266T>C	ENST00000426398.2	+	4	166	c.123T>C	c.(121-123)ggT>ggC	p.G41G	PTBP2_ENST00000609116.1_Silent_p.G41G|PTBP2_ENST00000394184.3_Silent_p.G52G|PTBP2_ENST00000370198.1_Silent_p.G41G|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.G41G|PTBP2_ENST00000541987.1_Silent_p.G10G	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	41					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G41G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CAGCCAATGGTAATGATAGTA	0.294																																					p.G41G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T123C	1						.						67.0	74.0	72.0					1																	97235266		2203	4300	6503	97007854	SO:0001819	synonymous_variant	58155	exon4			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.123T>C	1.37:g.97235266T>C		Somatic		Capture	Illumina HiSeq	Phase_I	97007854	NM_021190	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	CCDS754.1																																																																																				0.294	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		
PTBP2	58155	broad.mit.edu	37	1	97243177	97243177	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:97243177C>A	ENST00000426398.2	+	6	512	c.469C>A	c.(469-471)Cag>Aag	p.Q157K	PTBP2_ENST00000609116.1_Missense_Mutation_p.Q157K|PTBP2_ENST00000394184.3_Missense_Mutation_p.Q168K|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q157K|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q157K|PTBP2_ENST00000541987.1_Missense_Mutation_p.Q126K	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	157					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q157K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GACAGCTGTCCAGACAGCAAA	0.423																																					p.Q157K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	1						.						82.0	80.0	81.0					1																	97243177		2203	4300	6503	97015765	SO:0001583	missense	58155	exon6			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.469C>A	1.37:g.97243177C>A	ENSP00000412788:p.Gln157Lys	Somatic		Capture	Illumina HiSeq	Phase_I	97015765	NM_021190	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102885	0.94245	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.78246	0.85;0.84;0.84;0.84;0.84;-1.16	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.71581	2.175	0.80722	D	1	B;B;B;B;B;B	0.31817	0.019;0.231;0.341;0.042;0.032;0.071	B;B;B;B;B;B	0.29785	0.039;0.05;0.107;0.033;0.049;0.105	T	0.74106	-0.3772	10	0.62326	D	0.03	-1.2044	20.5632	0.99335	0.0:1.0:0.0:0.0	.	165;168;157;157;157;157	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	K	157;157;157;157;168;126;147	ENSP00000236228:Q157K;ENSP00000359217:Q157K;ENSP00000359216:Q157K;ENSP00000412788:Q157K;ENSP00000377738:Q168K;ENSP00000442475:Q126K	ENSP00000236228:Q157K	Q	+	1	0	PTBP2	97015765	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.692000	0.68256	2.937000	0.99478	0.650000	0.86243	CAG		0.423	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		
DPYD	1806	broad.mit.edu	37	1	98060694	98060694	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:98060694G>T	ENST00000370192.3	-	9	979	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	293					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.I293I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCCTTGGAAGATGGCATCTT	0.368																																					p.I293I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879A	1						.						84.0	86.0	85.0					1																	98060694		2203	4300	6503	97833282	SO:0001819	synonymous_variant	1806	exon9			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.879C>A	1.37:g.98060694G>T		Somatic		Capture	Illumina HiSeq	Phase_I	97833282	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PALMD	54873	broad.mit.edu	37	1	100133242	100133242	+	Silent	SNP	C	C	T	rs150756021		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:100133242C>T	ENST00000263174.4	+	3	546	c.171C>T	c.(169-171)agC>agT	p.S57S	PALMD_ENST00000605497.1_Silent_p.S57S	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	57					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.S57S(1)		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)		GAATCAGCAGCGGAAAAGAAC	0.403																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	1						.	C		0,4406		0,0,2203	164.0	159.0	161.0		171	-2.2	0.7	1	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PALMD	NM_017734.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		57/552	100133242	2,13004	2203	4300	6503	99905830	SO:0001819	synonymous_variant	54873	exon3			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.171C>T	1.37:g.100133242C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99905830	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	ENST00000263174.4	37	CCDS758.1																																																																																				0.403	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
AGL	178	broad.mit.edu	37	1	100387217	100387217	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:100387217G>T	ENST00000294724.4	+	0	5087				AGL_ENST00000370161.2_3'UTR|AGL_ENST00000361915.3_3'UTR|AGL_ENST00000361302.3_3'UTR|AGL_ENST00000361522.4_3'UTR|AGL_ENST00000370163.3_3'UTR|AGL_ENST00000370165.3_3'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTTATTACAGATATTAAGTA	0.333																																					.												.	.	0			.	1						.						58.0	61.0	60.0					1																	100387217		2203	4299	6502	100159805	SO:0001624	3_prime_UTR_variant	178	.			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.*10G>T	1.37:g.100387217G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100159805	.	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	3'UTR	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
VCAM1	7412	broad.mit.edu	37	1	101190454	101190454	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:101190454G>T	ENST00000294728.2	+	4	1029				VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1						acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.?(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAGGTGAGTAGAATGTGAAAA	0.378																																					.												.	.	2	Unknown(2)	large_intestine(1)|lung(1)	.	1						.						73.0	73.0	73.0					1																	101190454		2203	4299	6502	100963042	SO:0001627	intron_variant	7412	.			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.928+8G>T	1.37:g.101190454G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100963042	.	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Intron	SNP	ENST00000294728.2	37	CCDS773.1																																																																																				0.378	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
OLFM3	118427	broad.mit.edu	37	1	102290572	102290572	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:102290572T>C	ENST00000338858.5	-	4	652				OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Intron|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000536598.1_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.?(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATTAAATTGTCATACTCACT	0.333																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						92.0	91.0	91.0					1																	102290572		2203	4300	6503	102063160	SO:0001627	intron_variant	118427	.			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.652+9A>G	1.37:g.102290572T>C		Somatic		Capture	Illumina HiSeq	Phase_I	102063160	.	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Intron	SNP	ENST00000338858.5	37																																																																																					0.333	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1		
COL11A1	1301	broad.mit.edu	37	1	103412524	103412524	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103412524G>A	ENST00000370096.3	-	42	3481				COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAGTATACAGGAAAAGAAGTA	0.428																																					.												.	.	0			.	1						.						22.0	21.0	21.0					1																	103412524		2202	4300	6502	103185112	SO:0001627	intron_variant	1301	.			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3169-12C>T	1.37:g.103412524G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103185112	.	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Intron	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103480160	103480160	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103480160G>T	ENST00000370096.3	-	13	1801				COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTTGGAAGAGATAACATTAA	0.388																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						65.0	60.0	62.0					1																	103480160		2202	4300	6502	103252748	SO:0001627	intron_variant	1301	.			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1489-10C>A	1.37:g.103480160G>T		Somatic		Capture	Illumina HiSeq	Phase_I	103252748	.	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Intron	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103491770	103491770	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:103491770A>C	ENST00000370096.3	-	6	1210		c.e6+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGTTTTTACCTCCGTCTG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						274.0	227.0	243.0					1																	103491770		2203	4300	6503	103264358	SO:0001630	splice_region_variant	1301	.			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.897+1T>G	1.37:g.103491770A>C		Somatic		Capture	Illumina HiSeq	Phase_I	103264358	.	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Intron	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058646	0.76074	.	.	ENSG00000060718	ENST00000370096;ENST00000512756	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4088	0.74902	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103264358	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.689000	0.74562	2.046000	0.60703	0.523000	0.50628	.		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron
NTNG1	22854	broad.mit.edu	37	1	107950292	107950292	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:107950292C>T	ENST00000370068.1	+	5	1906				NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTATTGTTTTCTTTTTCTCCA	0.289																																					.												.	.	0			.	1						.						44.0	45.0	45.0					1																	107950292		2202	4289	6491	107751815	SO:0001627	intron_variant	22854	.			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1061-12C>T	1.37:g.107950292C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107751815	.	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Intron	SNP	ENST00000370068.1	37	CCDS44180.1																																																																																				0.289	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
PRPF38B	55119	broad.mit.edu	37	1	109238823	109238823	+	Intron	SNP	G	G	A	rs192058455		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109238823G>A	ENST00000370025.4	+	3	766				PRPF38B_ENST00000467302.1_Intron|PRPF38B_ENST00000370022.5_Intron|PRPF38B_ENST00000370021.1_Intron	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAAGGTGAGCGTACATTTATG	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						108.0	107.0	107.0					1																	109238823		2203	4300	6503	109040346	SO:0001627	intron_variant	55119	.			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.497+7G>A	1.37:g.109238823G>A		Somatic		Capture	Illumina HiSeq	Phase_I	109040346	.	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Intron	SNP	ENST00000370025.4	37	CCDS788.1																																																																																				0.338	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	
STXBP3	6814	broad.mit.edu	37	1	109337442	109337442	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109337442T>G	ENST00000370008.3	+	13	1079					NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCTTCTGTTTTTCAGCAAG	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						66.0	64.0	65.0					1																	109337442		2203	4298	6501	109138965	SO:0001627	intron_variant	6814	.			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1030-7T>G	1.37:g.109337442T>G		Somatic		Capture	Illumina HiSeq	Phase_I	109138965	.	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Intron	SNP	ENST00000370008.3	37	CCDS790.1																																																																																				0.348	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	
GPSM2	29899	broad.mit.edu	37	1	109444402	109444402	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109444402C>A	ENST00000406462.2	+	9	1570				GPSM2_ENST00000264126.3_Intron|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAATTAATTTCTTCTTGTAGG	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						55.0	58.0	57.0					1																	109444402		2203	4300	6503	109245925	SO:0001627	intron_variant	29899	.			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.798-10C>A	1.37:g.109444402C>A		Somatic		Capture	Illumina HiSeq	Phase_I	109245925	.	Q5T1N8|Q6IBL7|Q8N0Z5	Intron	SNP	ENST00000406462.2	37	CCDS792.2																																																																																				0.358	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	
GPSM2	29899	broad.mit.edu	37	1	109445747	109445747	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:109445747G>T	ENST00000406462.2	+	10	1726		c.e10-1		GPSM2_ENST00000264126.3_Splice_Site|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TAACGTTTTAGAATTGGTGAA	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						94.0	87.0	89.0					1																	109445747		2203	4300	6503	109247270	SO:0001630	splice_region_variant	29899	.			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.954-1G>T	1.37:g.109445747G>T		Somatic		Capture	Illumina HiSeq	Phase_I	109247270	.	Q5T1N8|Q6IBL7|Q8N0Z5	Splice_Site	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126524	0.56721	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.592	0.95518	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPSM2	109247270	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	9.444000	0.97578	2.626000	0.88956	0.557000	0.71058	.		0.363	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	Intron
SYPL2	284612	broad.mit.edu	37	1	110018336	110018336	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110018336G>T	ENST00000369872.3	+	3	470				SYPL2_ENST00000401021.3_Intron|SYPL2_ENST00000475497.1_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2						cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.?(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGGTGAGCAAGAATTGGTTCC	0.517																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						97.0	101.0	100.0					1																	110018336		2122	4225	6347	109819859	SO:0001627	intron_variant	284612	.			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.254+9G>T	1.37:g.110018336G>T		Somatic		Capture	Illumina HiSeq	Phase_I	109819859	.	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Intron	SNP	ENST00000369872.3	37	CCDS41365.1																																																																																				0.517	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603	
CSF1	1435	broad.mit.edu	37	1	110465781	110465781	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:110465781C>A	ENST00000329608.6	+	6	935				CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Intron|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCTGTGGTTCTTTCAGATGT	0.577											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						113.0	107.0	109.0					1																	110465781		2203	4300	6503	110267304	SO:0001627	intron_variant	1435	.			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.545-7C>A	1.37:g.110465781C>A		Somatic	1427	Capture	Illumina HiSeq	Phase_I	110267304	.	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Intron	SNP	ENST00000329608.6	37	CCDS816.1																																																																																				0.577	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757	
PTPN22	26191	broad.mit.edu	37	1	114375710	114375710	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:114375710C>A	ENST00000359785.5	-	16	2189				PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000420377.2_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TAAATGTCATCTAAAGCCAAG	0.323																																					.												.	.	0			.	1						.						66.0	63.0	64.0					1																	114375710		2203	4300	6503	114177233	SO:0001627	intron_variant	26191	.			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2053+22G>T	1.37:g.114375710C>A		Somatic		Capture	Illumina HiSeq	Phase_I	114177233	.	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Intron	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485392	0.44147	.	.	ENSG00000134242	ENST00000354605	.	.	.	3.75	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6065	0.22727	0.2057:0.5952:0.1991:0.0	.	.	.	.	Y	692	.	.	X	-	3	2	PTPN22	114177233	0.709000	0.27886	0.606000	0.28943	0.480000	0.33159	-0.181000	0.09740	0.530000	0.28619	0.491000	0.48974	TAG		0.323	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
DENND2C	163259	broad.mit.edu	37	1	115128217	115128217	+	3'UTR	SNP	G	G	T	rs560018064		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115128217G>T	ENST00000393274.1	-	0	3416				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_3'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAATCAGAGATTTCATTTC	0.303																																					.												.	.	0			.	1						.						59.0	62.0	61.0					1																	115128217		2202	4299	6501	114929740	SO:0001624	3_prime_UTR_variant	163259	.				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.*4C>A	1.37:g.115128217G>T		Somatic		Capture	Illumina HiSeq	Phase_I	114929740	.	B1AL26|Q5TCX6|Q6P3R3	3'UTR	SNP	ENST00000393274.1	37	CCDS58018.1																																																																																				0.303	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
SYCP1	6847	broad.mit.edu	37	1	115487607	115487607	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:115487607A>C	ENST00000369522.3	+	25	2394				SYCP1_ENST00000369518.1_Intron	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.?(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATAAGGTAATTTTTTTCTT	0.264																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						23.0	24.0	24.0					1																	115487607		2195	4273	6468	115289130	SO:0001627	intron_variant	6847	.			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2154+4A>C	1.37:g.115487607A>C		Somatic		Capture	Illumina HiSeq	Phase_I	115289130	.	O14963|Q5VXJ6	Intron	SNP	ENST00000369522.3	37	CCDS879.1																																																																																				0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
CD101	9398	broad.mit.edu	37	1	117576474	117576474	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:117576474C>T	ENST00000256652.4	+	9	2882				CD101_ENST00000467588.1_Intron|RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Intron|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule						cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.?(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTCTCCCTTCGTTGCAGAGC	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						81.0	81.0	81.0					1																	117576474		2203	4300	6503	117377997	SO:0001627	intron_variant	9398	.			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2825-8C>T	1.37:g.117576474C>T		Somatic		Capture	Illumina HiSeq	Phase_I	117377997	.	Q15856	Intron	SNP	ENST00000256652.4	37	CCDS891.1																																																																																				0.433	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
GDAP2	54834	broad.mit.edu	37	1	118449215	118449215	+	Intron	SNP	G	G	T	rs41276596	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:118449215G>T	ENST00000369443.5	-	6	809				GDAP2_ENST00000369442.3_Intron	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2						response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CTAAGGAAAAGAATAGAAAGA	0.303																																					.												.	.	0			.	1						.						77.0	89.0	85.0					1																	118449215		2202	4293	6495	118250738	SO:0001627	intron_variant	54834	.			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.560-11C>A	1.37:g.118449215G>T		Somatic		Capture	Illumina HiSeq	Phase_I	118250738	.	Q96DZ0	Intron	SNP	ENST00000369443.5	37	CCDS897.1																																																																																				0.303	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	
POLR3C	10623	broad.mit.edu	37	1	145598624	145598624	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:145598624G>A	ENST00000334163.3	-	8	1037				POLR3C_ENST00000471254.1_Intron|POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.?(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GATCTATGGAGCAAAGGACAC	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						114.0	111.0	112.0					1																	145598624		2203	4300	6503	144309981	SO:0001627	intron_variant	10623	.			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.877-8C>T	1.37:g.145598624G>A		Somatic		Capture	Illumina HiSeq	Phase_I	144309981	.	O15317|Q9Y3R6	Intron	SNP	ENST00000334163.3	37	CCDS921.1																																																																																				0.433	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468	
NBPF20	100288142	broad.mit.edu	37	1	148346577	148346577	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:148346577C>A	ENST00000369202.1	-	2	373				NBPF20_ENST00000414710.2_Intron			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20							cytoplasm (GO:0005737)		p.?(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GCCTATAGATCTTACTGTATT	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						43.0	45.0	45.0					1																	148346577		1962	4145	6107	146713201	SO:0001627	intron_variant	200030	.				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.175+4G>T	1.37:g.148346577C>A		Somatic		Capture	Illumina HiSeq	Phase_I	146713201	.		Intron	SNP	ENST00000369202.1	37																																																																																					0.418	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		
FAM63A	55793	broad.mit.edu	37	1	150974632	150974632	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:150974632T>C	ENST00000361936.5	-	3	1408				FAM63A_ENST00000361738.6_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)		p.?(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAACTGCATGTTCTCTTACCT	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						135.0	116.0	122.0					1																	150974632		2203	4300	6503	149241256	SO:0001627	intron_variant	55793	.			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.453+8A>G	1.37:g.150974632T>C		Somatic		Capture	Illumina HiSeq	Phase_I	149241256	.	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Intron	SNP	ENST00000361936.5	37	CCDS976.1																																																																																				0.458	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379	
GABPB2	126626	broad.mit.edu	37	1	151070316	151070316	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:151070316C>T	ENST00000368918.3	+	5	802				GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AATATCCTGCCTTGTTTGATA	0.428																																					.												.	.	0			.	1						.						133.0	120.0	124.0					1																	151070316		2203	4300	6503	149336940	SO:0001627	intron_variant	126626	.				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.472-12C>T	1.37:g.151070316C>T		Somatic		Capture	Illumina HiSeq	Phase_I	149336940	.	B1AVJ8|D3DV14|Q8NAR5	Intron	SNP	ENST00000368918.3	37	CCDS983.1																																																																																				0.428	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618	
THEM4	117145	broad.mit.edu	37	1	151849470	151849470	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:151849470T>G	ENST00000368814.3	-	5	1032				THEM4_ENST00000477437.1_5'Flank	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4						epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.?(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAAGACCAGCTTCTTACTTGT	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						101.0	105.0	103.0					1																	151849470		2203	4300	6503	150116094	SO:0001627	intron_variant	117145	.			AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.682+6A>C	1.37:g.151849470T>G		Somatic		Capture	Illumina HiSeq	Phase_I	150116094	.	B2RBX2|Q96KR2	Intron	SNP	ENST00000368814.3	37	CCDS1006.1																																																																																				0.438	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	
VHLL	391104	broad.mit.edu	37	1	156268988	156268988	+	5'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156268988G>A	ENST00000339922.3	-	0	440					NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like											endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CATTACCTCCGAAGCCTTGAC	0.577																																					.												.	.	0			.	1						.						34.0	39.0	38.0					1																	156268988		2187	4285	6472	154535612	SO:0001623	5_prime_UTR_variant	391104	.					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.-8C>T	1.37:g.156268988G>A		Somatic		Capture	Illumina HiSeq	Phase_I	154535612	.	A1L4M4	5'UTR	SNP	ENST00000339922.3	37																																																																																					0.577	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319	
SH2D2A	9047	broad.mit.edu	37	1	156785620	156785620	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156785620G>A	ENST00000368199.3	-	2	277				SH2D2A_ENST00000495306.1_Intron|SH2D2A_ENST00000368198.3_Intron|NTRK1_ENST00000392302.2_5'UTR|SH2D2A_ENST00000392306.2_Intron	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAACTCGGCGCATGAAGGAG	0.577																																					.												.	.	0			.	1						.						193.0	140.0	158.0					1																	156785620		2203	4300	6503	155052244	SO:0001627	intron_variant	4914	.			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.123+177C>T	1.37:g.156785620G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155052244	.	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	5'UTR	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																				0.577	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
NTRK1	4914	broad.mit.edu	37	1	156844687	156844687	+	Intron	SNP	T	T	C	rs369714977		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156844687T>C	ENST00000524377.1	+	11	1292				NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Intron|NTRK1_ENST00000368196.3_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACTACCCCTGTCCCCCACCAG	0.572			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											.			Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	.	0			.	1						.						102.0	101.0	101.0					1																	156844687		2203	4300	6503	155111311	SO:0001627	intron_variant	4914	.			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1252-11T>C	1.37:g.156844687T>C		Somatic		Capture	Illumina HiSeq	Phase_I	155111311	.	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Intron	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.572	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
ARHGEF11	9826	broad.mit.edu	37	1	156905934	156905934	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:156905934G>A	ENST00000361409.2	-	40	5253				ARHGEF11_ENST00000315174.8_Intron|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_Intron|ARHGEF11_ENST00000368194.3_Intron	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGCTCACGAGAACAGATC	0.537																																					.												.	.	0			.	1						.						148.0	144.0	145.0					1																	156905934		1568	3582	5150	155172558	SO:0001627	intron_variant	9826	.			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4511-84C>T	1.37:g.156905934G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155172558	.	D3DVD0|Q5VY40|Q6PFW2	RNA	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.537	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
OR10K1	391109	broad.mit.edu	37	1	158435340	158435340	+	5'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:158435340G>A	ENST00000289451.2	+	0	69					NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTTTATAGAAGTGCTCTC	0.493																																					.												.	.	0			.	1						.						53.0	50.0	51.0					1																	158435340		2203	4300	6503	156701964	SO:0001623	5_prime_UTR_variant	391109	.			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.-12G>A	1.37:g.158435340G>A		Somatic		Capture	Illumina HiSeq	Phase_I	156701964	.	Q6IFS2	5'Flank	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																				0.493	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
IFI16	3428	broad.mit.edu	37	1	159015096	159015096	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159015096G>T	ENST00000295809.7	+	8	1594	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	IFI16_ENST00000340979.6_Intron|IFI16_ENST00000448393.2_Intron|IFI16_ENST00000368131.4_Missense_Mutation_p.D447Y|IFI16_ENST00000359709.3_Missense_Mutation_p.D391Y|IFI16_ENST00000368132.3_Intron|IFI16_ENST00000430894.2_Missense_Mutation_p.D395Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	447					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.D447Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GAAAAGTGAAGACACAATCTC	0.353																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						16.0	16.0	16.0					1																	159015096		2117	4165	6282	157281720	SO:0001583	missense	3428	.			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1339G>T	1.37:g.159015096G>T	ENSP00000295809:p.Asp447Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	157281720	.	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Intron	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	g	4.513	0.095193	0.08681	.	.	ENSG00000163565	ENST00000295809;ENST00000368131;ENST00000430894	T;T;T	0.05786	3.46;3.39;3.55	2.84	-4.95	0.03048	.	.	.	.	.	T	0.00998	0.0033	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.24155	0.051	T	0.45818	-0.9235	9	0.62326	D	0.03	.	4.7143	0.12887	0.6334:0.0:0.2019:0.1648	.	395	E7EPR3	.	Y	447;447;395	ENSP00000295809:D447Y;ENSP00000357113:D447Y;ENSP00000394935:D395Y	ENSP00000295809:D447Y	D	+	1	0	IFI16	157281720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.911000	0.04050	-1.183000	0.02723	-0.362000	0.07510	GAC		0.353	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	
OR10J3	441911	broad.mit.edu	37	1	159283458	159283458	+	IGR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:159283458A>C	ENST00000332217.5	-	0	990					NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAGCATTAAAAATTAGTACAT	0.383																																					.												.	.	0			.	1						.						42.0	49.0	47.0					1																	159283458		2200	4271	6471	157550082	SO:0001628	intergenic_variant	0	.				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233		1.37:g.159283458A>C		Somatic		Capture	Illumina HiSeq	Phase_I	157550082	.		IGR	SNP	ENST00000332217.5	37	CCDS30909.1																																																																																				0.383	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
CASQ1	844	broad.mit.edu	37	1	160167412	160167412	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:160167412C>T	ENST00000368078.3	+	7	1024				CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Intron			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)						endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGTGAGTGCCCCTGGCCAG	0.512																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						91.0	91.0	91.0					1																	160167412		2203	4300	6503	158434036	SO:0001627	intron_variant	844	.			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.828+8C>T	1.37:g.160167412C>T		Somatic		Capture	Illumina HiSeq	Phase_I	158434036	.	B1AKZ2|B2R863|Q8TBW7	Intron	SNP	ENST00000368078.3	37	CCDS1198.2																																																																																				0.512	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
NUF2	83540	broad.mit.edu	37	1	163309272	163309272	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:163309272C>A	ENST00000271452.3	+	8	885				NUF2_ENST00000367900.3_Intron|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAACGGTATCTGTTGTGAGG	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						78.0	74.0	76.0					1																	163309272		2203	4300	6503	161575896	SO:0001627	intron_variant	83540	.			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.606+5C>A	1.37:g.163309272C>A		Somatic		Capture	Illumina HiSeq	Phase_I	161575896	.	Q8WU69|Q96HJ4|Q96Q78	Intron	SNP	ENST00000271452.3	37	CCDS1245.1																																																																																				0.373	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
PBX1	5087	broad.mit.edu	37	1	164761725	164761725	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:164761725C>A	ENST00000420696.2	+	3	453				PBX1_ENST00000540246.1_5'Flank|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Intron|PBX1_ENST00000540236.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGTCTTTTTCTGTAGTTTTG	0.493			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																.			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	.	.	1	Unknown(1)	large_intestine(1)	.	1						.						30.0	31.0	31.0					1																	164761725		2203	4300	6503	163028349	SO:0001627	intron_variant	5087	.			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.266-6C>A	1.37:g.164761725C>A		Somatic		Capture	Illumina HiSeq	Phase_I	163028349	.	B4DSC1|F5H4U9|Q5T488	Intron	SNP	ENST00000420696.2	37	CCDS1246.1																																																																																				0.493	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585	
ADCY10	55811	broad.mit.edu	37	1	167792372	167792372	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167792372G>T	ENST00000367851.4	-	29	4237				ADCY10_ENST00000545172.1_Intron|RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000367848.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTATGGAAAAGAAAAGGTAGT	0.488																																					.												.	.	0			.	1						.						41.0	43.0	42.0					1																	167792372		2203	4300	6503	166058996	SO:0001627	intron_variant	55811	.			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4053-11C>A	1.37:g.167792372G>T		Somatic		Capture	Illumina HiSeq	Phase_I	166058996	.	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Intron	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																				0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
DCAF6	55827	broad.mit.edu	37	1	167973229	167973229	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:167973229T>C	ENST00000312263.6	+	9	1321		c.e9+2		DCAF6_ENST00000432587.2_Splice_Site|DCAF6_ENST00000367843.3_Splice_Site|DCAF6_ENST00000367840.3_Splice_Site	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GACCCAGAGGTAATTTTTAAT	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						62.0	65.0	64.0					1																	167973229		2203	4299	6502	166239853	SO:0001630	splice_region_variant	55827	.			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1117+2T>C	1.37:g.167973229T>C		Somatic		Capture	Illumina HiSeq	Phase_I	166239853	.	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Splice_Site	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862293	0.71949	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4369	0.75155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF6	166239853	1.000000	0.71417	0.984000	0.44739	0.722000	0.41435	7.460000	0.80816	2.103000	0.63969	0.477000	0.44152	.		0.343	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	Intron
KIFAP3	22920	broad.mit.edu	37	1	170008439	170008439	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:170008439G>T	ENST00000361580.2	-	4	547				KIFAP3_ENST00000367765.1_Intron|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000490550.1_Intron|KIFAP3_ENST00000538366.1_Intron	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGTAAAAAGATTTTTTTTT	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						46.0	44.0	44.0					1																	170008439		2202	4295	6497	168275063	SO:0001627	intron_variant	22920	.			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.320-10C>A	1.37:g.170008439G>T		Somatic		Capture	Illumina HiSeq	Phase_I	168275063	.	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Intron	SNP	ENST00000361580.2	37	CCDS1288.1																																																																																				0.333	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
FMO1	2326	broad.mit.edu	37	1	171251113	171251113	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:171251113T>G	ENST00000354841.4	+	6	958				FMO1_ENST00000402921.2_Intron|FMO1_ENST00000469112.1_Intron|FMO1_ENST00000367750.3_Intron	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1						NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.?(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATGTTTTTGTTTAGGACTCAG	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						42.0	38.0	39.0					1																	171251113		2203	4300	6503	169517737	SO:0001627	intron_variant	2326	.			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.828-4T>G	1.37:g.171251113T>G		Somatic		Capture	Illumina HiSeq	Phase_I	169517737	.	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Intron	SNP	ENST00000354841.4	37	CCDS1294.1																																																																																				0.468	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021	
SLC9C2	284525	broad.mit.edu	37	1	173502741	173502741	+	Intron	SNP	A	A	C	rs374871730		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173502741A>C	ENST00000367714.3	-	17	2586				SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.?(1)									aaaatGTGAAATCTTACCTTG	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						46.0	53.0	50.0					1																	173502741		2179	4280	6459	171769364	SO:0001627	intron_variant	284525	.			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2163+6T>G	1.37:g.173502741A>C		Somatic		Capture	Illumina HiSeq	Phase_I	171769364	.	Q86UF3	Intron	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																				0.388	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
ZBTB37	84614	broad.mit.edu	37	1	173834522	173834522	+	5'Flank	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:173834522C>A	ENST00000427304.1	+	0	0				ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000364822.2_RNA|ZBTB37_ENST00000432989.1_5'Flank|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000365524.1_RNA|GAS5_ENST00000364084.1_RNA|GAS5-AS1_ENST00000602767.1_RNA|GAS5_ENST00000363146.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CATTTTCTTTCTCAGAGAGAT	0.299																																					.												.	.	0			.	1						.						27.0	25.0	26.0					1																	173834522		873	1988	2861	172101145	SO:0001631	upstream_gene_variant	60674	.			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173834522C>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	172101145	.	Q5TC80|Q96M87|Q9BQ88	RNA	SNP	ENST00000427304.1	37	CCDS44278.1																																																																																				0.299	ZBTB37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032522	
TNR	7143	broad.mit.edu	37	1	175328876	175328876	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:175328876G>T	ENST00000367674.2	-	15	3563				TNR_ENST00000263525.2_Intron			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCTGAAACAGAATAGATTAT	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						73.0	65.0	68.0					1																	175328876		2203	4300	6503	173595499	SO:0001627	intron_variant	7143	.			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2855-9C>A	1.37:g.175328876G>T		Somatic		Capture	Illumina HiSeq	Phase_I	173595499	.	C9J563|Q15568|Q5R3G0	Intron	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
KIAA1614	57710	broad.mit.edu	37	1	180914726	180914726	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:180914726C>T	ENST00000367588.4	+	0	3630				RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_3'UTR|KIAA1614_ENST00000461346.1_Intron	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614											NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTTGGCTGAGCCGTGCAGCTC	0.577																																					.												.	.	0			.	1						.						25.0	25.0	25.0					1																	180914726		1851	4082	5933	179181349	SO:0001624	3_prime_UTR_variant	57710	.			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.*2C>T	1.37:g.180914726C>T		Somatic		Capture	Illumina HiSeq	Phase_I	179181349	.	Q5VZ45|Q9HCF8	3'UTR	SNP	ENST00000367588.4	37	CCDS41442.1																																																																																				0.577	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
GLUL	2752	broad.mit.edu	37	1	182355390	182355390	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:182355390C>T	ENST00000331872.6	-	4	1016		c.e4+1		GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000311223.5_Splice_Site|GLUL_ENST00000491322.1_5'UTR	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.?(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AGGAGACTTACCCTGGGGCCC	0.542																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						75.0	80.0	79.0					1																	182355390		2203	4300	6503	180622013	SO:0001630	splice_region_variant	2752	.			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.475+1G>A	1.37:g.182355390C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180622013	.	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Splice_Site	SNP	ENST00000331872.6	37	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667534	0.67814	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4748	0.87657	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLUL	180622013	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.698000	0.68302	2.450000	0.82876	0.650000	0.86243	.		0.542	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	Intron
NMNAT2	23057	broad.mit.edu	37	1	183262939	183262939	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183262939G>A	ENST00000287713.6	-	2	420				NMNAT2_ENST00000294868.4_Intron	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CTAATTAAGAGAAGAAACCCA	0.418																																					.												.	.	0			.	1						.						70.0	63.0	65.0					1																	183262939		2203	4300	6503	181529562	SO:0001627	intron_variant	23057	.			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.86-11C>T	1.37:g.183262939G>A		Somatic		Capture	Illumina HiSeq	Phase_I	181529562	.	O75067|Q5T1Q3|Q8WU99|Q96QW1	Intron	SNP	ENST00000287713.6	37	CCDS1353.1																																																																																				0.418	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1		
SMG7	9887	broad.mit.edu	37	1	183518892	183518892	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:183518892C>A	ENST00000347615.2	+	19	2942				SMG7_ENST00000367537.3_Intron|SMG7_ENST00000508461.1_Intron|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000456731.2_Intron|SMG7_ENST00000515829.2_Intron	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTGTCATGTCTTTCAGGAAA	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						92.0	97.0	96.0					1																	183518892		2203	4300	6503	181785515	SO:0001627	intron_variant	9887	.			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2824-7C>A	1.37:g.183518892C>A		Somatic		Capture	Illumina HiSeq	Phase_I	181785515	.	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Intron	SNP	ENST00000347615.2	37	CCDS1355.1																																																																																				0.413	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
TPR	7175	broad.mit.edu	37	1	186287745	186287745	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186287745G>T	ENST00000367478.4	-	48	6961					NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.?(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTTAAAAAGACAACACAAG	0.363			T	NTRK1	papillary thyroid																																.			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	2	Unknown(2)	large_intestine(2)	.	1						.						79.0	71.0	73.0					1																	186287745		1865	4106	5971	184554368	SO:0001627	intron_variant	7175	.			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6665-10C>A	1.37:g.186287745G>T		Somatic		Capture	Illumina HiSeq	Phase_I	184554368	.	Q15655|Q5SWY0|Q99968	Intron	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
C1orf27	54953	broad.mit.edu	37	1	186358719	186358719	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:186358719G>T	ENST00000287859.6	+	6	562		c.e6-1		C1orf27_ENST00000419367.3_Splice_Site|C1orf27_ENST00000367470.3_Splice_Site|C1orf27_ENST00000432021.3_Splice_Site	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27							integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AATTAGTGAAGAATATTTTGT	0.269																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						68.0	65.0	66.0					1																	186358719		1791	4044	5835	184625342	SO:0001630	splice_region_variant	54953	.			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.438-1G>T	1.37:g.186358719G>T		Somatic		Capture	Illumina HiSeq	Phase_I	184625342	.	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Splice_Site	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028519	0.75390	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf27	184625342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.504000	0.73704	2.505000	0.84491	0.655000	0.94253	.		0.269	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847	Intron
CFHR3	10878	broad.mit.edu	37	1	196748915	196748915	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:196748915C>A	ENST00000367425.4	+	3	345				CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Intron	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3							blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TTTATCATTGCTATGTCCTTA	0.264																																					.												.	.	0			.	1						.						14.0	17.0	16.0					1																	196748915		1849	4105	5954	195015538	SO:0001627	intron_variant	10878	.			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.254-12C>A	1.37:g.196748915C>A		Somatic		Capture	Illumina HiSeq	Phase_I	195015538	.	B4DPR0|Q9UJ16	Intron	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.264	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
NEK7	140609	broad.mit.edu	37	1	198288534	198288534	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198288534C>T	ENST00000367385.4	+	10	1140				NEK7_ENST00000538004.1_Intron	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7						cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GTTTTTCTTTCTTCACAGCTC	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						75.0	70.0	72.0					1																	198288534		2203	4300	6503	196555157	SO:0001627	intron_variant	140609	.			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.799-8C>T	1.37:g.198288534C>T		Somatic		Capture	Illumina HiSeq	Phase_I	196555157	.	A6NGT8	Intron	SNP	ENST00000367385.4	37	CCDS1394.1																																																																																				0.363	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	
MIR181A1	406995	broad.mit.edu	37	1	198828244	198828244	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:198828244G>A	ENST00000385026.1	-	0	38				MIR181B1_ENST00000385240.1_RNA	NR_029626.1				microRNA 181a-1																		CAAACTCACCGACAGCGTTGA	0.423																																					.												.	.	0			.	1						.						170.0	152.0	157.0					1																	198828244		1568	3582	5150	197094867			406995	.					1q32.1	2011-09-12	2006-05-16	2008-12-18	ENSG00000207759	ENSG00000207759		"""ncRNAs / Micro RNAs"""	31590	non-coding RNA	RNA, micro		612742	"""microRNA 213"""	MIRN213, MIRN181A1			Standard	NR_029626		Approved	hsa-mir-213	uc001guy.3				1.37:g.198828244G>A		Somatic		Capture	Illumina HiSeq	Phase_I	197094867	.		RNA	SNP	ENST00000385026.1	37																																																																																					0.423	MIR181A1-201	KNOWN	basic	miRNA	miRNA		NR_029626	
CAMSAP2	23271	broad.mit.edu	37	1	200801323	200801323	+	Intron	SNP	C	C	T	rs555340857	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200801323C>T	ENST00000236925.4	+	6	727				CAMSAP2_ENST00000358823.2_Intron|CAMSAP2_ENST00000413307.2_Intron			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2						microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.?(1)									TTTTTTATATCGTAGGCTCGT	0.323													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14345	0.0		0.0	False		,,,				2504	0.001				.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						90.0	87.0	88.0					1																	200801323		2203	4300	6503	199067946	SO:0001627	intron_variant	23271	.			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.679-5C>T	1.37:g.200801323C>T		Somatic		Capture	Illumina HiSeq	Phase_I	199067946	.	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Intron	SNP	ENST00000236925.4	37																																																																																					0.323	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
CAMSAP2	23271	broad.mit.edu	37	1	200813898	200813898	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:200813898C>A	ENST00000236925.4	+	9	1103				CAMSAP2_ENST00000358823.2_Intron|CAMSAP2_ENST00000413307.2_Intron			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2						microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TTTTAAAAATCTTTTATTCCA	0.318																																					.												.	.	0			.	1						.						44.0	44.0	44.0					1																	200813898		2203	4296	6499	199080521	SO:0001627	intron_variant	23271	.			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1055-12C>A	1.37:g.200813898C>A		Somatic		Capture	Illumina HiSeq	Phase_I	199080521	.	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Intron	SNP	ENST00000236925.4	37																																																																																					0.318	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
ZC3H11A	9877	broad.mit.edu	37	1	203819165	203819165	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:203819165C>A	ENST00000545588.1	+	14	5766				ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000367210.1_Intron|ZC3H11A_ENST00000367214.1_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAAGTATTTCTATACTGTGT	0.398																																					.												.	.	0			.	1						.						40.0	40.0	40.0					1																	203819165		2202	4299	6501	202085788	SO:0001627	intron_variant	9877	.				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1939+11C>A	1.37:g.203819165C>A		Somatic		Capture	Illumina HiSeq	Phase_I	202085788	.	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Intron	SNP	ENST00000545588.1	37	CCDS30978.1																																																																																				0.398	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
LINC00303	284573	broad.mit.edu	37	1	204009500	204009500	+	lincRNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:204009500C>A	ENST00000367207.3	-	0	196							Q3SY05	CA157_HUMAN	long intergenic non-protein coding RNA 303																		TTCTTTTAGTCTCTTCAAGGA	0.323																																					.												.	.	0			.	1						.						159.0	148.0	152.0					1																	204009500		2004	4179	6183	202276123			284573	.			AK097662		1q32.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000176754	ENSG00000176754		"""Long non-coding RNAs"""	26865	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 157"", ""non-protein coding RNA 303"""	C1orf157, NCRNA00303			Standard	NR_027902		Approved	FLJ40343	uc010pqo.1	Q3SY05	OTTHUMG00000036054		1.37:g.204009500C>A		Somatic		Capture	Illumina HiSeq	Phase_I	202276123	.	Q3SY06|Q8N7U1	Missense_Mutation	SNP	ENST00000367207.3	37																																																																																					0.323	LINC00303-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087885.3	NR_027902	
CR1	1378	broad.mit.edu	37	1	207795347	207795347	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:207795347T>G	ENST00000367049.4	+	44	7276				CR1_ENST00000367053.1_Intron|CR1_ENST00000400960.2_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTTGGTAAGTTTTATGAAAG	0.373																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						185.0	162.0	169.0					1																	207795347		1880	4110	5990	205861970	SO:0001627	intron_variant	1378	.			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7276+6T>G	1.37:g.207795347T>G		Somatic		Capture	Illumina HiSeq	Phase_I	205861970	.	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Intron	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.373	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
RCOR3	55758	broad.mit.edu	37	1	211462513	211462513	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:211462513C>A	ENST00000367005.4	+	7	687				RCOR3_ENST00000419091.2_Intron|RCOR3_ENST00000452621.2_Intron|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGCTTTTATTCTCTTAGGGTA	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						81.0	77.0	78.0					1																	211462513		2203	4300	6503	209529136	SO:0001627	intron_variant	55758	.			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.547-7C>A	1.37:g.211462513C>A		Somatic		Capture	Illumina HiSeq	Phase_I	209529136	.	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Intron	SNP	ENST00000367005.4	37	CCDS31016.1																																																																																				0.348	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
TATDN3	128387	broad.mit.edu	37	1	212970546	212970546	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:212970546T>C	ENST00000366974.4	+	4	352				TATDN3_ENST00000526641.1_Intron|TATDN3_ENST00000525569.1_Intron|TATDN3_ENST00000366973.4_Intron|TATDN3_ENST00000532324.1_Intron|TATDN3_ENST00000526997.1_Intron|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000530441.1_Intron	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.?(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AAGGTAACAGTCATACAAAAC	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						101.0	88.0	92.0					1																	212970546		2203	4300	6503	211037169	SO:0001627	intron_variant	128387	.			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.258+8T>C	1.37:g.212970546T>C		Somatic		Capture	Illumina HiSeq	Phase_I	211037169	.	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Intron	SNP	ENST00000366974.4	37	CCDS31019.1																																																																																				0.358	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838	
PTPN14	5784	broad.mit.edu	37	1	214571249	214571249	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:214571249A>C	ENST00000366956.5	-	8	953				PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.?(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAAACAAATAAGACTACCTGT	0.353																																					.	Colon(92;557 1424 24372 34121 40073)											.	.	1	Unknown(1)	large_intestine(1)	.	1						.						86.0	83.0	84.0					1																	214571249		2203	4300	6503	212637872	SO:0001627	intron_variant	5784	.			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.758+6T>G	1.37:g.214571249A>C		Somatic		Capture	Illumina HiSeq	Phase_I	212637872	.	Q5VSI0	Intron	SNP	ENST00000366956.5	37	CCDS1514.1																																																																																				0.353	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
USH2A	7399	broad.mit.edu	37	1	215916507	215916507	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:215916507A>C	ENST00000307340.3	-	59	11935				USH2A_ENST00000366943.2_Intron	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGTCTGAAAGACTTTCA	0.348										HNSCC(13;0.011)																											.												.	.	0			.	1						.						101.0	98.0	99.0					1																	215916507		2203	4300	6503	213983130	SO:0001627	intron_variant	7399	.			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11548+11T>G	1.37:g.215916507A>C		Somatic		Capture	Illumina HiSeq	Phase_I	213983130	.	Q5VVM9|Q6S362|Q9NS27	Intron	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.348	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216172405	216172405	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:216172405G>T	ENST00000307340.3	-	34	6872				USH2A_ENST00000366943.2_Intron	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.?(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCCACCTGGGAATGGTAAAA	0.303										HNSCC(13;0.011)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						100.0	96.0	97.0					1																	216172405		2202	4300	6502	214239028	SO:0001627	intron_variant	7399	.			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6486-5C>A	1.37:g.216172405G>T		Somatic		Capture	Illumina HiSeq	Phase_I	214239028	.	Q5VVM9|Q6S362|Q9NS27	Intron	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
TGFB2	7042	broad.mit.edu	37	1	218609304	218609304	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:218609304T>G	ENST00000366930.4	+	5	1221				TGFB2_ENST00000479322.1_Intron|TGFB2_ENST00000366929.4_Intron	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.?(2)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAAATGCATTTTTTCAAGGTA	0.378																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						75.0	81.0	79.0					1																	218609304		2203	4300	6503	216675927	SO:0001627	intron_variant	7042	.			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.755-8T>G	1.37:g.218609304T>G		Somatic		Capture	Illumina HiSeq	Phase_I	216675927	.	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Intron	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																				0.378	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
EPRS	2058	broad.mit.edu	37	1	220191785	220191785	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:220191785A>G	ENST00000366923.3	-	12	1764					NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase						cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.?(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GAGTTAACATACATACCTTTT	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						110.0	101.0	104.0					1																	220191785		2203	4300	6503	218258408	SO:0001627	intron_variant	2058	.			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1494+5T>C	1.37:g.220191785A>G		Somatic		Capture	Illumina HiSeq	Phase_I	218258408	.	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Intron	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																				0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
IARS2	55699	broad.mit.edu	37	1	220310261	220310261	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:220310261A>G	ENST00000302637.5	+	16	2153				IARS2_ENST00000366922.1_Intron|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.?(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAAGTAGGTGATTCTCTAAAA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						89.0	84.0	86.0					1																	220310261		2203	4300	6503	218376884	SO:0001627	intron_variant	55699	.			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2049+8A>G	1.37:g.220310261A>G		Somatic		Capture	Illumina HiSeq	Phase_I	218376884	.	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Intron	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																				0.333	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
HHIPL2	79802	broad.mit.edu	37	1	222696234	222696234	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222696234G>A	ENST00000343410.6	-	9	1947				HHIPL2_ENST00000473144.1_Intron	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.?(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTGTCTCTGAGAAATCAGTAT	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						57.0	60.0	59.0					1																	222696234		2203	4300	6503	220762857	SO:0001627	intron_variant	79802	.			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1889-5C>T	1.37:g.222696234G>A		Somatic		Capture	Illumina HiSeq	Phase_I	220762857	.	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Intron	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																				0.348	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
TAF1A	9015	broad.mit.edu	37	1	222742846	222742846	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:222742846C>A	ENST00000352967.4	-	7	1083				TAF1A_ENST00000350027.4_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000543857.1_Intron|TAF1A_ENST00000465263.1_5'Flank|TAF1A_ENST00000391882.1_Intron	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.?(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GATAAAAATTCTATACCTTAA	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						114.0	114.0	114.0					1																	222742846		2203	4300	6503	220809469	SO:0001627	intron_variant	9015	.			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.894+5G>T	1.37:g.222742846C>A		Somatic		Capture	Illumina HiSeq	Phase_I	220809469	.	B2RDZ8|D3DTB7|Q9NWA1	Intron	SNP	ENST00000352967.4	37	CCDS1531.1																																																																																				0.323	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681	
NUP133	55746	broad.mit.edu	37	1	229588391	229588391	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:229588391C>A	ENST00000261396.3	-	22	3072		c.e22-1		NUP133_ENST00000485119.1_5'Flank|NUP133_ENST00000537506.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.?(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCAGCCATTTCTAGTATTCAA	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						69.0	63.0	65.0					1																	229588391		2203	4300	6503	227655014	SO:0001630	splice_region_variant	55746	.				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2981-1G>T	1.37:g.229588391C>A		Somatic		Capture	Illumina HiSeq	Phase_I	227655014	.	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522369	0.85600	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3846	0.87413	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP133	227655014	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	6.768000	0.74980	2.520000	0.84964	0.563000	0.77884	.		0.408	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Intron
SIPA1L2	57568	broad.mit.edu	37	1	232551372	232551372	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:232551372C>A	ENST00000366630.1	-	18	4989		c.e18-1		SIPA1L2_ENST00000308942.4_Splice_Site|SIPA1L2_ENST00000262861.4_Splice_Site			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.?(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGAACTCATCTAAACAGAAA	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						99.0	112.0	108.0					1																	232551372		2130	4226	6356	230617995	SO:0001630	splice_region_variant	57568	.			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4631-1G>T	1.37:g.232551372C>A		Somatic		Capture	Illumina HiSeq	Phase_I	230617995	.	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Splice_Site	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755531	0.69648	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9456	0.97181	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIPA1L2	230617995	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.294000	0.78760	2.782000	0.95742	0.655000	0.94253	.		0.547	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	Intron
ERO1LB	56605	broad.mit.edu	37	1	236396143	236396143	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:236396143A>C	ENST00000354619.5	-	9	875					NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.?(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TCTTCGCCTAAAAGAGAAAAT	0.279																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						40.0	43.0	42.0					1																	236396143		2202	4299	6501	234462766	SO:0001627	intron_variant	56605	.			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.674-4T>G	1.37:g.236396143A>C		Somatic		Capture	Illumina HiSeq	Phase_I	234462766	.	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Intron	SNP	ENST00000354619.5	37	CCDS31064.1																																																																																				0.279	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
RYR2	6262	broad.mit.edu	37	1	237787178	237787178	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:237787178C>A	ENST00000366574.2	+	39	6339				RYR2_ENST00000542537.1_Intron|RYR2_ENST00000360064.6_Intron	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGTAAGGTCTTTTTGATTA	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						90.0	87.0	88.0					1																	237787178		1811	4071	5882	235853801	SO:0001627	intron_variant	6262	.			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6022+8C>A	1.37:g.237787178C>A		Somatic		Capture	Illumina HiSeq	Phase_I	235853801	.	Q15411|Q546N8|Q5T3P2	Intron	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.313	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PLD5	200150	broad.mit.edu	37	1	242287766	242287766	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:242287766T>G	ENST00000536534.2	-	6	1175				PLD5_ENST00000427495.1_Intron|PLD5_ENST00000442594.2_Intron			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGAAAACAACTCACCGATACA	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						122.0	114.0	117.0					1																	242287766		2203	4300	6503	240354389	SO:0001627	intron_variant	200150	.			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.933+3A>C	1.37:g.242287766T>G		Somatic		Capture	Illumina HiSeq	Phase_I	240354389	.	A1KXV0|B7Z324|Q494U9|Q8NB22	Intron	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.383	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
AKT3	10000	broad.mit.edu	37	1	243668637	243668637	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:243668637C>A	ENST00000366539.1	-	14	1555		c.e14-1		AKT3_ENST00000263826.5_Splice_Site|AKT3_ENST00000366540.1_Intron|AKT3_ENST00000336199.5_Intron			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3						mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TCCTCATCATCTGTGGGCAGG	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						110.0	106.0	107.0					1																	243668637		2203	4300	6503	241735260	SO:0001630	splice_region_variant	10000	.			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1355-1G>T	1.37:g.243668637C>A		Somatic		Capture	Illumina HiSeq	Phase_I	241735260	.	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Intron	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164242	0.78339	.	.	ENSG00000117020	ENST00000366539;ENST00000263826	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKT3	241735260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.814000	0.96858	0.655000	0.94253	.		0.383	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690	Intron
HNRNPU	3192	broad.mit.edu	37	1	245017743	245017743	+	3'UTR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:245017743T>G	ENST00000283179.9	-	0	2650				HNRNPU_ENST00000444376.2_3'UTR|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)						CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GTTCGTTTTATTTGGGTATTC	0.348																																					.	NSCLC(33;911 1010 3329 23631 49995)											.	.	0			.	1						.						130.0	134.0	133.0					1																	245017743		2203	4300	6503	243084366	SO:0001624	3_prime_UTR_variant	3192	.			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.*9A>C	1.37:g.245017743T>G		Somatic		Capture	Illumina HiSeq	Phase_I	243084366	.	O75507|Q8N174|Q96HY9|Q9BQ09	3'UTR	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.348	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
AHCTF1	25909	broad.mit.edu	37	1	247019135	247019135	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:247019135G>A	ENST00000391829.2	-	31	4380				AHCTF1_ENST00000366508.1_Intron|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTCCTTTAGAAAAAGAAAT	0.398																																					.	Colon(145;197 1800 4745 15099 26333)											.	.	1	Unknown(1)	large_intestine(1)	.	1						.						85.0	82.0	83.0					1																	247019135		2203	4300	6503	245085758	SO:0001627	intron_variant	25909	.				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4257-6C>T	1.37:g.247019135G>A		Somatic		Capture	Illumina HiSeq	Phase_I	245085758	.	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Intron	SNP	ENST00000391829.2	37																																																																																					0.398	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
OR2M5	127059	broad.mit.edu	37	1	248308449	248308449	+	5'Flank	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:248308449C>A	ENST00000366476.1	+	0	0					NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACATATTCATCATGGCATGGG	0.413																																					.												.	.	0			.	1						.						160.0	160.0	160.0					1																	248308449		2203	4300	6503	246375072	SO:0001631	upstream_gene_variant	127059	.				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447		1.37:g.248308449C>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	246375072	.		5'Flank	SNP	ENST00000366476.1	37	CCDS31105.1																																																																																				0.413	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
SH3BP5L	80851	broad.mit.edu	37	1	249107234	249107234	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:249107234C>T	ENST00000366472.5	-	6	1894	c.665G>A	c.(664-666)aGc>aAc	p.S222N	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S190N	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	222								p.S222N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTAGGGGCGGCTCTTGCCGAT	0.652																																					p.S222N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	1						.						59.0	59.0	59.0					1																	249107234		2203	4300	6503	247073857	SO:0001583	missense	80851	exon6			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.665G>A	1.37:g.249107234C>T	ENSP00000355428:p.Ser222Asn	Somatic		Capture	Illumina HiSeq	Phase_I	247073857	NM_030645	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192086	0.78902	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.78481	-1.18	4.4	4.4	0.53042	.	0.116963	0.56097	D	0.000026	D	0.88551	0.6467	M	0.85462	2.755	0.53688	D	0.999977	D;D;D;D	0.89917	0.999;1.0;1.0;0.995	D;D;D;D	0.75484	0.977;0.986;0.986;0.963	D	0.90653	0.4584	10	0.87932	D	0	-28.269	14.8588	0.70362	0.0:1.0:0.0:0.0	.	190;115;222;80	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	N	222;190	ENSP00000412203:S190N	ENSP00000355428:S222N	S	-	2	0	SH3BP5L	247073857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.231000	0.65327	2.156000	0.67533	0.467000	0.42956	AGC		0.652	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
CEP104	9731	broad.mit.edu	37	1	3742311	3742311	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:3742311G>A	ENST00000378230.3	-	18	2689					NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTGCTGTGCCGCTGGCCTGAC	0.517																																					.												.	.	0			.	1						.						92.0	81.0	85.0					1																	3742311		2203	4300	6503	3732171	SO:0001627	intron_variant	9731	.			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2364+10C>T	1.37:g.3742311G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3732171	.	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Intron	SNP	ENST00000378230.3	37	CCDS30571.1																																																																																				0.517	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
DNAJC11	55735	broad.mit.edu	37	1	6698432	6698432	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:6698432G>A	ENST00000377577.5	-	12	1377				DNAJC11_ENST00000377573.5_Intron|DNAJC11_ENST00000465508.1_Intron|DNAJC11_ENST00000542246.1_Intron|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.?(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTACGCGAGAGGAACAC	0.627																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						64.0	52.0	56.0					1																	6698432		2203	4300	6503	6621019	SO:0001627	intron_variant	55735	.			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1254-8C>T	1.37:g.6698432G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6621019	.	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Intron	SNP	ENST00000377577.5	37	CCDS87.1																																																																																				0.627	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
LCK	3932	broad.mit.edu	37	1	32745599	32745599	+	Intron	SNP	C	C	T	rs142706318	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:32745599C>T	ENST00000336890.5	+	11	1333				LCK_ENST00000333070.4_Intron|LCK_ENST00000373564.3_Intron	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AGGGAGGGTACGTGTGAGATT	0.567			T	TRB@	T-ALL								.|||	8	0.00159744	0.0053	0.0014	5008	,	,		20184	0.0		0.0	False		,,,				2504	0.0				.			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	.	2	Unknown(2)	large_intestine(2)	.	1						.	C	,	41,4365	43.8+/-77.6	0,41,2162	63.0	55.0	58.0		,	-0.3	0.8	1	dbSNP_134	58	0,8600		0,0,4300	no	intron,intron	LCK	NM_001042771.1,NM_005356.3	,	0,41,6462	TT,TC,CC		0.0,0.9305,0.3152	,	,	32745599	41,12965	2203	4300	6503	32518186	SO:0001627	intron_variant	3932	.			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1195+4C>T	1.37:g.32745599C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32518186	.	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Intron	SNP	ENST00000336890.5	37	CCDS359.1																																																																																				0.567	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
AK2	204	broad.mit.edu	37	1	33487189	33487189	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:33487189C>T	ENST00000487289.1	-	3	346				AK2_ENST00000373449.2_Intron|AK2_ENST00000467905.1_Intron|AK2_ENST00000354858.6_Intron|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Intron|AK2_ENST00000548033.1_Intron					adenylate kinase 2									p.?(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AACTAAGCTACCCACCATTTC	0.433																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						44.0	46.0	45.0					1																	33487189		2203	4300	6503	33259776	SO:0001627	intron_variant	204	.			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.330+4G>A	1.37:g.33487189C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33259776	.		Intron	SNP	ENST00000487289.1	37																																																																																					0.433	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625	
ZMYM6	9204	broad.mit.edu	37	1	35478183	35478183	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35478183C>A	ENST00000357182.4	-	7	1023		c.e7-1		ZMYM6_ENST00000373340.2_Splice_Site|ZMYM6_ENST00000493328.1_Splice_Site|ZMYM6_ENST00000487874.1_Splice_Site	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGCAGAATTCTATTAAAATA	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						38.0	40.0	39.0					1																	35478183		2199	4299	6498	35250770	SO:0001630	splice_region_variant	9204	.			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.796-1G>T	1.37:g.35478183C>A		Somatic		Capture	Illumina HiSeq	Phase_I	35250770	.	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Splice_Site	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423227	0.62733	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9084	0.92472	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYM6	35250770	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.019000	0.64060	2.767000	0.95098	0.557000	0.71058	.		0.353	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	Intron
ZMYM6	9204	broad.mit.edu	37	1	35484947	35484947	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:35484947T>G	ENST00000357182.4	-	4	656				ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000317538.5_Missense_Mutation_p.K145N|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373333.1_Missense_Mutation_p.K145N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTTAAGAATTTTATACTTCG	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						107.0	107.0	107.0					1																	35484947		2203	4300	6503	35257534	SO:0001627	intron_variant	9204	.			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.428+6A>C	1.37:g.35484947T>G		Somatic		Capture	Illumina HiSeq	Phase_I	35257534	.	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Intron	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041761	0.55003	.	.	ENSG00000163867	ENST00000317538;ENST00000373333	T;T	0.44881	0.91;0.91	5.15	1.33	0.21861	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.22601	0.04	T	0.24048	-1.0171	8	0.87932	D	0	.	2.106	0.03691	0.2384:0.0717:0.2457:0.4442	.	145	O95789-4	.	N	145	ENSP00000326695:K145N;ENSP00000362430:K145N	ENSP00000326695:K145N	K	-	3	2	ZMYM6	35257534	0.003000	0.15002	0.034000	0.17996	0.902000	0.53008	0.158000	0.16422	0.110000	0.17919	0.477000	0.44152	AAA		0.393	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
C1orf216	127703	broad.mit.edu	37	1	36186589	36186589	+	5'Flank	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:36186589G>A	ENST00000270815.4	-	0	0				CLSPN_ENST00000251195.5_Intron	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216									p.?(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTTCTGAAACGAAATTAAAGG	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						34.0	34.0	34.0					1																	36186589		876	1991	2867	35959176	SO:0001631	upstream_gene_variant	127703	.			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167		1.37:g.36186589G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	35959176	.	D3DPS1|Q8N8N6	5'Flank	SNP	ENST00000270815.4	37	CCDS395.1																																																																																				0.443	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374	
CDCA8	55143	broad.mit.edu	37	1	38173986	38173986	+	Intron	SNP	C	C	A	rs145033890|rs76377765|rs368589115	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:38173986C>A	ENST00000373055.1	+	10	1071				CDCA8_ENST00000327331.2_Intron	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8						chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTCCTTTTCTTTTTAGAAC	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						111.0	109.0	110.0					1																	38173986		2141	4236	6377	37946573	SO:0001627	intron_variant	55143	.			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.799-8C>A	1.37:g.38173986C>A		Somatic		Capture	Illumina HiSeq	Phase_I	37946573	.	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Intron	SNP	ENST00000373055.1	37	CCDS424.1																																																																																				0.507	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101	
COL9A2	1298	broad.mit.edu	37	1	40771379	40771379	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:40771379G>A	ENST00000372748.3	-	21	1204				COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGTGCAGGGGGCATTTACCTC	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						47.0	51.0	49.0					1																	40771379		2203	4299	6502	40543966	SO:0001627	intron_variant	1298	.			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1107+7C>T	1.37:g.40771379G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40543966	.	B2RMP9	Intron	SNP	ENST00000372748.3	37	CCDS450.1																																																																																				0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	
ZMYND12	84217	broad.mit.edu	37	1	42900937	42900937	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:42900937C>T	ENST00000372565.3	-	6	1099				ZMYND12_ENST00000475426.1_Intron|ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12							intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.?(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAAAACTGCCACTTACCCA	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						187.0	170.0	176.0					1																	42900937		2203	4300	6503	42673524	SO:0001627	intron_variant	84217	.			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.829+7G>A	1.37:g.42900937C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42673524	.	Q5VUS6|Q8TC87|Q96M51	Intron	SNP	ENST00000372565.3	37	CCDS467.1																																																																																				0.458	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	
TIE1	7075	broad.mit.edu	37	1	43777969	43777969	+	Intron	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:43777969G>C	ENST00000372476.3	+	12	1709				TIE1_ENST00000433781.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGACCTCTGGCCCCAGAGCC	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						41.0	45.0	44.0					1																	43777969		2203	4299	6502	43550556	SO:0001627	intron_variant	7075	.			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1631-7G>C	1.37:g.43777969G>C		Somatic		Capture	Illumina HiSeq	Phase_I	43550556	.	B5A949|B5A950	Intron	SNP	ENST00000372476.3	37	CCDS482.1																																																																																				0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
KDM4A	9682	broad.mit.edu	37	1	44131423	44131423	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:44131423T>C	ENST00000372396.3	+	6	807				KDM4A_ENST00000463151.1_Intron	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAAGGTACTGTGTCTCTTCTG	0.532																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						213.0	187.0	195.0					1																	44131423		2203	4300	6503	43904010	SO:0001627	intron_variant	9682	.			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.673+7T>C	1.37:g.44131423T>C		Somatic		Capture	Illumina HiSeq	Phase_I	43904010	.	Q5VVB1	Intron	SNP	ENST00000372396.3	37	CCDS491.1																																																																																				0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
MAST2	23139	broad.mit.edu	37	1	46473959	46473959	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46473959C>A	ENST00000361297.2	+	9	1185				MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.?(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCATTTCTTTCTTTTTTAGTC	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						45.0	41.0	42.0					1																	46473959		1865	4093	5958	46246546	SO:0001627	intron_variant	23139	.			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.903-9C>A	1.37:g.46473959C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46246546	.		Intron	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.403	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
POMGNT1	55624	broad.mit.edu	37	1	46654629	46654629	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:46654629A>C	ENST00000371984.3	-	0	2453				POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000535522.1_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.F670C|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.F670C	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.F670C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACAGTCAATAAATAGGTTAGA	0.532																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						82.0	78.0	80.0					1																	46654629		876	1991	2867	46427216	SO:0001624	3_prime_UTR_variant	55624	.				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.*313T>G	1.37:g.46654629A>C		Somatic		Capture	Illumina HiSeq	Phase_I	46427216	.	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	3'UTR	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350699	0.41599	.	.	ENSG00000085998	ENST00000371992;ENST00000371986	T;T	0.33865	1.39;1.39	5.55	5.55	0.83447	.	0.273464	0.32258	N	0.006354	T	0.58148	0.2102	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.62431	-0.6856	9	0.87932	D	0	-3.8525	12.0108	0.53286	1.0:0.0:0.0:0.0	.	670	Q5VST3	.	C	670	ENSP00000361060:F670C;ENSP00000361054:F670C	ENSP00000361054:F670C	F	-	2	0	POMGNT1	46427216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.333000	0.59285	2.333000	0.79357	0.533000	0.62120	TTT		0.532	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	
CYP4Z1	199974	broad.mit.edu	37	1	47548005	47548005	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:47548005G>A	ENST00000334194.3	+	4	367		c.e4-1			NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.?(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CATTTCATAAGGTCGAGGACT	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						45.0	43.0	44.0					1																	47548005		2203	4300	6503	47320592	SO:0001630	splice_region_variant	199974	.			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.365-1G>A	1.37:g.47548005G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47320592	.	Q5VVE4	Splice_Site	SNP	ENST00000334194.3	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	21.7	4.184568	0.78677	.	.	ENSG00000186160	ENST00000334194	.	.	.	2.28	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8779	0.52558	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4Z1	47320592	1.000000	0.71417	0.150000	0.22450	0.960000	0.62799	5.156000	0.64905	1.330000	0.45394	0.427000	0.28365	.		0.443	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	Intron
OSBPL9	114883	broad.mit.edu	37	1	52249579	52249579	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52249579C>A	ENST00000428468.1	+	18	1515				OSBPL9_ENST00000462759.1_Intron|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Intron|OSBPL9_ENST00000371710.3_Intron|OSBPL9_ENST00000337809.4_Intron|OSBPL9_ENST00000531828.1_Intron|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000371714.1_Intron|OSBPL9_ENST00000530544.1_Intron|OSBPL9_ENST00000435686.2_Intron|OSBPL9_ENST00000361556.5_Intron			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TTGAAAATTTCTATTCAGTTT	0.363																																					.												.	.	3	Unknown(3)	large_intestine(3)	.	1						.						62.0	64.0	64.0					1																	52249579		2203	4300	6503	52022167	SO:0001627	intron_variant	114883	.			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1514-8C>A	1.37:g.52249579C>A		Somatic		Capture	Illumina HiSeq	Phase_I	52022167	.	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Intron	SNP	ENST00000428468.1	37	CCDS41332.3																																																																																				0.363	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4		
OSBPL9	114883	broad.mit.edu	37	1	52256673	52256673	+	IGR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:52256673A>C	ENST00000428468.1	+	0	2893				RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000354831.7_Intron|NRD1_ENST00000485608.1_Intron|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000539524.1_Intron|NRD1_ENST00000352171.7_Intron			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTGAAACAAAACATCTTCAAT	0.358																																					.												.	.	0			.	1						.						60.0	62.0	61.0					1																	52256673		2203	4300	6503	52029261	SO:0001628	intergenic_variant	4898	.			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52256673A>C		Somatic		Capture	Illumina HiSeq	Phase_I	52029261	.	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Intron	SNP	ENST00000428468.1	37	CCDS41332.3																																																																																				0.358	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4		
MRPL37	51253	broad.mit.edu	37	1	54682020	54682020	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:54682020A>G	ENST00000360840.5	+	6	1271				MRPL37_ENST00000605337.1_Intron|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.?(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TGGTTGTGGTAAGTTGAGCCA	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						68.0	61.0	64.0					1																	54682020		2203	4300	6503	54454608	SO:0001627	intron_variant	51253	.			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1194+3A>G	1.37:g.54682020A>G		Somatic		Capture	Illumina HiSeq	Phase_I	54454608	.	Q96Q67|Q9BWR1|Q9P0P3	Intron	SNP	ENST00000360840.5	37	CCDS589.1																																																																																				0.557	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	
MYSM1	114803	broad.mit.edu	37	1	59150820	59150820	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:59150820C>T	ENST00000472487.1	-	7	538				MYSM1_ENST00000493821.1_Intron	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1						chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGATATTCTGCTTACCTTATT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						60.0	54.0	56.0					1																	59150820		1793	4062	5855	58923408	SO:0001627	intron_variant	114803	.			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.498+4G>A	1.37:g.59150820C>T		Somatic		Capture	Illumina HiSeq	Phase_I	58923408	.	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Intron	SNP	ENST00000472487.1	37	CCDS41343.1																																																																																				0.303	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
CACHD1	57685	broad.mit.edu	37	1	65131857	65131857	+	Intron	SNP	T	T	G	rs575432663		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:65131857T>G	ENST00000371073.2	+	16	2387				CACHD1_ENST00000290039.5_Intron|CACHD1_ENST00000495994.1_Intron			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.?(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCAGGTAATATTTTAACTAAC	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						86.0	83.0	84.0					1																	65131857		2203	4300	6503	64904445	SO:0001627	intron_variant	57685	.			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2387+7T>G	1.37:g.65131857T>G		Somatic		Capture	Illumina HiSeq	Phase_I	64904445	.	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Intron	SNP	ENST00000371073.2	37																																																																																					0.373	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						42.0	44.0	44.0					1																	66036155		2194	4298	6492	65808743	SO:0001630	splice_region_variant	3953	.			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.41-1G>T	1.37:g.66036155G>T		Somatic		Capture	Illumina HiSeq	Phase_I	65808743	.	Q6FHL5	Splice_Site	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.163980	0.21538	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65808743	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	5.008000	0.63991	2.619000	0.88677	0.460000	0.39030	.		0.299	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	Intron
LEPR	3953	broad.mit.edu	37	1	66036490	66036490	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:66036490G>A	ENST00000349533.6	+	4	555				LEPR_ENST00000371058.1_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000462765.1_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000344610.8_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATAGGTAAGCATTAGCTAT	0.294																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						33.0	35.0	34.0					1																	66036490		2202	4300	6502	65809078	SO:0001627	intron_variant	3953	.			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.370+5G>A	1.37:g.66036490G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65809078	.	Q6FHL5	Intron	SNP	ENST00000349533.6	37	CCDS631.1																																																																																				0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
SGIP1	84251	broad.mit.edu	37	1	67160158	67160158	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:67160158C>T	ENST00000371037.4	+	18	1647				SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000435165.2_5'Flank|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.S336L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S337L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.S337L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAACTGCCCTCGTTTGAAAGG	0.398																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						35.0	33.0	34.0					1																	67160158		876	1991	2867	66932746	SO:0001627	intron_variant	84251	.			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1571-959C>T	1.37:g.67160158C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66932746	.	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Intron	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561878	0.27915	.	.	ENSG00000118473	ENST00000371039;ENST00000371036	T;T	0.16743	2.32;2.32	5.86	4.95	0.65309	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.19300	N	0.99997	B	0.15141	0.012	B	0.11329	0.006	T	0.20907	-1.0261	8	0.27082	T	0.32	.	14.4063	0.67083	0.0:0.9297:0.0:0.0703	.	136	B3KR01	.	L	337;336	ENSP00000360078:S337L;ENSP00000360075:S336L	ENSP00000360075:S336L	S	+	2	0	SGIP1	66932746	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.573000	0.53856	2.765000	0.95021	0.655000	0.94253	TCG		0.398	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
LRRC7	57554	broad.mit.edu	37	1	70484390	70484390	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:70484390C>A	ENST00000035383.5	+	13	1236				RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTGTATGTTCTTTGCTTCTA	0.368																																					.												.	.	0			.	1						.						74.0	70.0	72.0					1																	70484390		2203	4300	6503	70256978	SO:0001627	intron_variant	57554	.				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1207-12C>A	1.37:g.70484390C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70256978	.	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Intron	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.368	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701774	74701774	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:74701774C>A	ENST00000370899.3	+	4	380				TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000326637.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CTCATTTGTTCTTCTTTACTA	0.299																																					.												.	.	0			.	1						.						74.0	78.0	77.0					1																	74701774		2202	4291	6493	74474362	SO:0001627	intron_variant	51086	.					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.344-12C>A	1.37:g.74701774C>A		Somatic		Capture	Illumina HiSeq	Phase_I	74474362	.		Intron	SNP	ENST00000370899.3	37																																																																																					0.299	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833660	74833660	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:74833660C>A	ENST00000370899.3	+	15	1661				TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TACCTATAATCTGGGACAATT	0.289																																					.												.	.	0			.	1						.						54.0	56.0	55.0					1																	74833660		2203	4297	6500	74606248	SO:0001627	intron_variant	51086	.					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1624+12C>A	1.37:g.74833660C>A		Somatic		Capture	Illumina HiSeq	Phase_I	74606248	.		Intron	SNP	ENST00000370899.3	37																																																																																					0.289	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
LPHN2	23266	broad.mit.edu	37	1	82421749	82421749	+	Intron	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:82421749G>C	ENST00000370728.1	+	13	2650				LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Intron			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATATTGGTAAGTGAATCTACT	0.353																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	1						.						56.0	54.0	55.0					1																	82421749		2203	4300	6503	82194337	SO:0001627	intron_variant	23266	.			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2005+5G>C	1.37:g.82421749G>C		Somatic		Capture	Illumina HiSeq	Phase_I	82194337	.	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Intron	SNP	ENST00000370728.1	37																																																																																					0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
SH3GLB1	51100	broad.mit.edu	37	1	87194133	87194133	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:87194133C>A	ENST00000370558.4	+	5	894				SH3GLB1_ENST00000482504.1_Intron|SH3GLB1_ENST00000535010.1_Intron	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1						'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGGTAAATTTCTCTTACATGC	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						10.0	9.0	9.0					1																	87194133		869	1978	2847	86966721	SO:0001627	intron_variant	51100	.			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.570+4045C>A	1.37:g.87194133C>A		Somatic		Capture	Illumina HiSeq	Phase_I	86966721	.	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1																																																																																				0.383	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009	
GBP5	115362	broad.mit.edu	37	1	89728092	89728092	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89728092G>T	ENST00000370459.3	-	10	1593				GBP5_ENST00000343435.5_Intron|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5							cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCTCTGAGGAGAAAAAGATAA	0.463																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						86.0	80.0	82.0					1																	89728092		2203	4300	6503	89500680	SO:0001627	intron_variant	115362	.			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1466-8C>A	1.37:g.89728092G>T		Somatic		Capture	Illumina HiSeq	Phase_I	89500680	.	B2RCE1|Q86TM5	Intron	SNP	ENST00000370459.3	37	CCDS722.1																																																																																				0.463	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
GBP6	163351	broad.mit.edu	37	1	89849317	89849317	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:89849317T>C	ENST00000370456.4	+	9	1561				GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6						cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GTAGCAGGTATGGGGCAGGGC	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						78.0	77.0	77.0					1																	89849317		2203	4300	6503	89621905	SO:0001627	intron_variant	163351	.			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1468+4T>C	1.37:g.89849317T>C		Somatic		Capture	Illumina HiSeq	Phase_I	89621905	.	A2RRM3|Q6ZN86|Q7Z3F0	Intron	SNP	ENST00000370456.4	37	CCDS723.1																																																																																				0.478	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
BRDT	676	broad.mit.edu	37	1	92446381	92446381	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:92446381C>A	ENST00000362005.3	+	10	1878				BRDT_ENST00000370389.2_Intron|BRDT_ENST00000399546.2_Intron|BRDT_ENST00000402388.1_Intron|BRDT_ENST00000394530.3_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific						cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGTAAGTATCTTTTATTATG	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						54.0	58.0	57.0					1																	92446381		2203	4296	6499	92218969	SO:0001627	intron_variant	676	.			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1460+9C>A	1.37:g.92446381C>A		Somatic		Capture	Illumina HiSeq	Phase_I	92218969	.	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Intron	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.303	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
BRDT	676	broad.mit.edu	37	1	92446817	92446817	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:92446817T>A	ENST00000362005.3	+	12	2168				BRDT_ENST00000370389.2_Intron|BRDT_ENST00000399546.2_Intron|BRDT_ENST00000402388.1_Intron|BRDT_ENST00000394530.3_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific						cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CCCTCCTAAATCACACAGCTA	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						72.0	74.0	73.0					1																	92446817		2203	4299	6502	92219405	SO:0001627	intron_variant	676	.			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1751-8T>A	1.37:g.92446817T>A		Somatic		Capture	Illumina HiSeq	Phase_I	92219405	.	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Intron	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.328	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
SH3BP5L	80851	broad.mit.edu	37	1	249118945	249118945	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr1:249118945C>A	ENST00000366472.5	-	2	1413				SH3BP5L_ENST00000475978.1_Intron|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like									p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTCTCAGTGCTCTCACCTGT	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						164.0	164.0	164.0					1																	249118945		2203	4300	6503	247085568	SO:0001627	intron_variant	80851	.			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.183+6G>T	1.37:g.249118945C>A		Somatic		Capture	Illumina HiSeq	Phase_I	247085568	.	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Intron	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																				0.557	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
MKKS	8195	broad.mit.edu	37	20	10393532	10393532	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:10393532C>A	ENST00000347364.3	-	3	1393	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	MKKS_ENST00000399054.2_Missense_Mutation_p.D211Y	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	211	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.D211Y(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACAGTGGAATCTATAACTCTT	0.368																																					p.D211Y	Melanoma(79;1979 2212 6640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	20						.						89.0	92.0	91.0					20																	10393532		2203	4300	6503	10341532	SO:0001583	missense	8195	exon3			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.631G>T	20.37:g.10393532C>A	ENSP00000246062:p.Asp211Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	10341532	NM_018848	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773691	0.49786	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.90197	-2.63;-2.63	5.63	5.63	0.86233	.	0.210199	0.50627	D	0.000117	D	0.95313	0.8479	M	0.73962	2.25	0.41128	D	0.985868	D	0.76494	0.999	D	0.73380	0.98	D	0.95340	0.8437	10	0.87932	D	0	-20.3131	20.0431	0.97598	0.0:1.0:0.0:0.0	.	211	Q9NPJ1	MKKS_HUMAN	Y	211	ENSP00000246062:D211Y;ENSP00000382008:D211Y	ENSP00000246062:D211Y	D	-	1	0	MKKS	10341532	0.967000	0.33354	0.971000	0.41717	0.946000	0.59487	2.067000	0.41461	2.803000	0.96430	0.585000	0.79938	GAT		0.368	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3		
JAG1	182	broad.mit.edu	37	20	10621476	10621476	+	Missense_Mutation	SNP	C	C	T	rs375200637		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:10621476C>T	ENST00000254958.5	-	25	3669	c.3154G>A	c.(3154-3156)Gtt>Att	p.V1052I	JAG1_ENST00000423891.2_Missense_Mutation_p.V893I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1052					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.V1052I(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTCTGCAACGGCAGCAATC	0.433									Alagille Syndrome																												p.V1052I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3154A	20						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		3154	4.9	0.5	20		100	0,8600		0,0,4300	no	missense	JAG1	NM_000214.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1052/1219	10621476	1,13005	2203	4300	6503	10569476	SO:0001583	missense	182	exon25	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3154G>A	20.37:g.10621476C>T	ENSP00000254958:p.Val1052Ile	Somatic		Capture	Illumina HiSeq	Phase_I	10569476	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216786	0.22373	2.27E-4	0.0	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86164	-2.08;-2.08	5.83	4.88	0.63580	.	0.108705	0.64402	D	0.000008	T	0.75243	0.3823	N	0.11064	0.09	0.49915	D	0.999835	B	0.21905	0.062	B	0.20184	0.028	T	0.69702	-0.5074	10	0.20046	T	0.44	.	15.2029	0.73153	0.0:0.9319:0.0:0.0681	.	1052	P78504	JAG1_HUMAN	I	1052;893	ENSP00000254958:V1052I;ENSP00000389519:V893I	ENSP00000254958:V1052I	V	-	1	0	JAG1	10569476	1.000000	0.71417	0.498000	0.27564	0.357000	0.29423	4.334000	0.59291	2.769000	0.95229	0.655000	0.94253	GTT		0.433	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
ISM1	140862	broad.mit.edu	37	20	13260470	13260470	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:13260470C>A	ENST00000262487.4	+	3	574	c.568C>A	c.(568-570)Ctc>Atc	p.L190I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	190						extracellular region (GO:0005576)		p.L190I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAGCAACTTCCTCAACCCCCC	0.567																																					p.L190I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568A	20						.						55.0	63.0	60.0					20																	13260470		1894	4113	6007	13208470	SO:0001583	missense	140862	exon3			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.568C>A	20.37:g.13260470C>A	ENSP00000262487:p.Leu190Ile	Somatic		Capture	Illumina HiSeq	Phase_I	13208470	NM_080826	Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368297	0.61513	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54801	-0.8239	10	0.37606	T	0.19	-29.3481	10.8832	0.46951	0.0:0.8614:0.0:0.1386	.	190	B1AKI9	ISM1_HUMAN	I	190;144	ENSP00000262487:L190I;ENSP00000409938:L144I	ENSP00000262487:L190I	L	+	1	0	ISM1	13208470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.500000	0.53318	2.884000	0.98904	0.655000	0.94253	CTC		0.567	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
SEL1L2	80343	broad.mit.edu	37	20	13847451	13847451	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:13847451A>C	ENST00000284951.5	-	15	1375	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F434C|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	434						integral component of membrane (GO:0016021)		p.F434C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGCCAGGTAAAAATATTTGAA	0.383																																					p.F434C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1301G	20						.						81.0	77.0	79.0					20																	13847451		1831	4081	5912	13795451	SO:0001583	missense	80343	exon15			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1301T>G	20.37:g.13847451A>C	ENSP00000284951:p.Phe434Cys	Somatic		Capture	Illumina HiSeq	Phase_I	13795451	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	A	17.80	3.478467	0.63849	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.56611	0.45;0.45	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);	0.090271	0.49305	D	0.000142	T	0.73916	0.3648	M	0.81239	2.535	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77683	-0.2496	10	0.87932	D	0	-17.1765	14.5244	0.67878	1.0:0.0:0.0:0.0	.	434;434	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	C	434	ENSP00000367312:F434C;ENSP00000284951:F434C	ENSP00000284951:F434C	F	-	2	0	SEL1L2	13795451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.526000	0.90588	2.313000	0.78055	0.455000	0.32223	TTT		0.383	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SEL1L2	80343	broad.mit.edu	37	20	13894461	13894461	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:13894461G>T	ENST00000284951.5	-	5	590	c.516C>A	c.(514-516)tcC>tcA	p.S172S	SEL1L2_ENST00000378072.5_Silent_p.S172S|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	172						integral component of membrane (GO:0016021)		p.S172S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTTAGCCAAGGACTCATATA	0.373																																					p.S172S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516A	20						.						111.0	100.0	103.0					20																	13894461		1823	4089	5912	13842461	SO:0001819	synonymous_variant	80343	exon5			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.516C>A	20.37:g.13894461G>T		Somatic		Capture	Illumina HiSeq	Phase_I	13842461	NM_025229	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.373	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
MACROD2	140733	broad.mit.edu	37	20	13982984	13982984	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:13982984G>T	ENST00000310348.4	+	2	97	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	MACROD2_ENST00000217246.4_Missense_Mutation_p.D33Y			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	33					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D33Y(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATACCTAAGAGACTATATTCC	0.368																																					p.D33Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97T	20						.						121.0	119.0	120.0					20																	13982984		2203	4300	6503	13930984	SO:0001583	missense	140733	exon2			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.97G>T	20.37:g.13982984G>T	ENSP00000309809:p.Asp33Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	13930984	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457041	0.63401	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.44083	0.93;0.93	6.02	6.02	0.97574	.	0.132778	0.48767	D	0.000164	T	0.65407	0.2688	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.76071	0.987;0.929	T	0.65380	-0.6182	10	0.87932	D	0	-14.5597	19.1153	0.93336	0.0:0.0:1.0:0.0	.	33;33	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	Y	33	ENSP00000217246:D33Y;ENSP00000309809:D33Y	ENSP00000217246:D33Y	D	+	1	0	MACROD2	13930984	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.377000	0.73145	2.857000	0.98124	0.650000	0.86243	GAC		0.368	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	
FLRT3	23767	broad.mit.edu	37	20	14306584	14306584	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:14306584T>G	ENST00000378053.3	-	2	1825	c.1569A>C	c.(1567-1569)aaA>aaC	p.K523N	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.K523N|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	523					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.K523N(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTGGGGTTTTTGTAAGGTT	0.453																																					p.K523N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1569C	20						.						115.0	108.0	110.0					20																	14306584		2203	4300	6503	14254584	SO:0001583	missense	23767	exon3			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1569A>C	20.37:g.14306584T>G	ENSP00000367292:p.Lys523Asn	Somatic		Capture	Illumina HiSeq	Phase_I	14254584	NM_198391	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	4.826	0.153590	0.09185	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.59364	0.27;0.27	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	N	0.14661	0.345	0.58432	D	0.999997	B	0.16802	0.019	B	0.17098	0.017	T	0.28870	-1.0030	10	0.18276	T	0.48	-16.7487	9.5186	0.39120	0.0:0.1355:0.0:0.8645	.	523	Q9NZU0	FLRT3_HUMAN	N	523	ENSP00000367292:K523N;ENSP00000339912:K523N	ENSP00000339912:K523N	K	-	3	2	FLRT3	14254584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.137000	0.58010	2.288000	0.76882	0.528000	0.53228	AAA		0.453	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281	
SIRPD	128646	broad.mit.edu	37	20	1532601	1532601	+	Missense_Mutation	SNP	C	C	T	rs142835461	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:1532601C>T	ENST00000381623.3	-	2	1346	c.157G>A	c.(157-159)Gta>Ata	p.V53I	SIRPD_ENST00000381621.1_Missense_Mutation_p.V53I			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	53	Ig-like V-type.					extracellular region (GO:0005576)		p.V53I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTATTGGGTACGCTGCAACTC	0.438																																					p.V53I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	20						.	C	ILE/VAL	0,4406		0,0,2203	126.0	119.0	121.0		157	0.7	0.0	20	dbSNP_134	121	1,8599		0,1,4299	no	missense	SIRPD	NM_178460.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	53/198	1532601	1,13005	2203	4300	6503	1480601	SO:0001583	missense	128646	exon2			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.157G>A	20.37:g.1532601C>T	ENSP00000371036:p.Val53Ile	Somatic		Capture	Illumina HiSeq	Phase_I	1480601	NM_178460	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.220306	0.39201	0.0	1.16E-4	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.66638	-0.22;-0.22	3.79	0.73	0.18271	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.467477	0.15785	U	0.244733	T	0.47544	0.1451	N	0.26130	0.795	0.09310	N	1	B	0.22909	0.077	B	0.22753	0.041	T	0.35992	-0.9766	10	0.46703	T	0.11	.	5.5055	0.16852	0.0:0.6266:0.0:0.3734	.	53	Q9H106	SIRPD_HUMAN	I	53	ENSP00000371036:V53I;ENSP00000371034:V53I	ENSP00000371034:V53I	V	-	1	0	SIRPD	1480601	0.000000	0.05858	0.004000	0.12327	0.388000	0.30384	-0.480000	0.06559	0.399000	0.25367	0.558000	0.71614	GTA		0.438	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460	
SIRPG	55423	broad.mit.edu	37	20	1617063	1617063	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:1617063G>T	ENST00000303415.3	-	3	583	c.519C>A	c.(517-519)ttC>ttA	p.F173L	SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.F140L	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	173	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F173L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCTGGGAGAGAAGCCATGGG	0.557																																					p.F173L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C519A	20						.						147.0	133.0	138.0					20																	1617063		2203	4300	6503	1565063	SO:0001583	missense	55423	exon3			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.519C>A	20.37:g.1617063G>T	ENSP00000305529:p.Phe173Leu	Somatic		Capture	Illumina HiSeq	Phase_I	1565063	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368291	0.42003	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.26484	0.0647	M	0.91972	3.26	0.34419	D	0.697218	P;D	0.58268	0.571;0.982	B;P	0.58660	0.408;0.843	T	0.45702	-0.9243	10	0.87932	D	0	.	7.6109	0.28129	0.0:0.0:1.0:0.0	.	173;173	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	L	140;173;173;173	ENSP00000370992:F140L;ENSP00000305529:F173L;ENSP00000370995:F173L;ENSP00000216927:F173L	ENSP00000216927:F173L	F	-	3	2	SIRPG	1565063	1.000000	0.71417	0.121000	0.21740	0.010000	0.07245	1.541000	0.36126	1.148000	0.42385	0.404000	0.27445	TTC		0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
FLRT3	23767	broad.mit.edu	37	20	14307246	14307246	+	Missense_Mutation	SNP	G	G	A	rs150799973		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:14307246G>A	ENST00000378053.3	-	2	1163	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.R303C|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	303					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R303C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGATTGTTGCGAAGAATCAGT	0.438																																					p.R303C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	20						.	G	CYS/ARG,,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	76.0	78.0		907,,907	6.1	1.0	20	dbSNP_134	78	0,8600		0,0,4300	no	missense,intron,missense	FLRT3,MACROD2	NM_013281.3,NM_080676.5,NM_198391.2	180,,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging	303/650,,303/650	14307246	1,13005	2203	4300	6503	14255246	SO:0001583	missense	23767	exon3			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.907C>T	20.37:g.14307246G>A	ENSP00000367292:p.Arg303Cys	Somatic		Capture	Illumina HiSeq	Phase_I	14255246	NM_198391	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586613	0.66105	2.27E-4	0.0	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.58358	0.34;0.34	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65792	-0.6082	10	0.59425	D	0.04	-8.1732	20.6397	0.99537	0.0:0.0:1.0:0.0	.	303	Q9NZU0	FLRT3_HUMAN	C	303	ENSP00000367292:R303C;ENSP00000339912:R303C	ENSP00000339912:R303C	R	-	1	0	FLRT3	14255246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.932000	0.87634	2.880000	0.98712	0.650000	0.86243	CGC		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281	
MACROD2	140733	broad.mit.edu	37	20	15913977	15913977	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:15913977G>T	ENST00000310348.4	+	11	832	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	MACROD2_ENST00000402914.1_Missense_Mutation_p.D43Y|MACROD2_ENST00000217246.4_Missense_Mutation_p.D278Y|MACROD2_ENST00000378058.3_Missense_Mutation_p.D43Y			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	278	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D278Y(1)|p.D43Y(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCAGAGCCAAGATGCAGGTAG	0.418																																					p.D43Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G127T	20						.						120.0	109.0	113.0					20																	15913977		2203	4300	6503	15861977	SO:0001583	missense	140733	exon7			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.832G>T	20.37:g.15913977G>T	ENSP00000309809:p.Asp278Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	15861977	NM_001033087	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709068	0.48517	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.50001	2.37;2.37;0.76;0.76	5.84	5.84	0.93424	.	0.244284	0.29321	N	0.012482	T	0.39036	0.1063	N	0.22421	0.69	0.29347	N	0.8656	P;P	0.48016	0.845;0.904	B;B	0.40864	0.185;0.342	T	0.44251	-0.9340	10	0.72032	D	0.01	-10.8424	18.3141	0.90213	0.0:0.0:1.0:0.0	.	278;278	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	Y	278;278;43;43	ENSP00000217246:D278Y;ENSP00000309809:D278Y;ENSP00000385290:D43Y;ENSP00000367297:D43Y	ENSP00000217246:D278Y	D	+	1	0	MACROD2	15861977	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.442000	0.59988	2.767000	0.95098	0.591000	0.81541	GAT		0.418	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	
DSTN	11034	broad.mit.edu	37	20	17581461	17581461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:17581461G>T	ENST00000246069.7	+	2	428	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	DSTN_ENST00000474024.1_Nonsense_Mutation_p.E11*	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	28	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.E28*(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CACACCAGAAGAAATCAAGAA	0.393																																					p.E28X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G82T	20						.						51.0	51.0	51.0					20																	17581461		2203	4300	6503	17529461	SO:0001587	stop_gained	11034	exon2			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.82G>T	20.37:g.17581461G>T	ENSP00000246069:p.Glu28*	Somatic		Capture	Illumina HiSeq	Phase_I	17529461	NM_006870	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Nonsense_Mutation	SNP	ENST00000246069.7	37	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	G	39	7.681886	0.98431	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	.	.	.	5.65	5.65	0.86999	.	0.157056	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-27.996	18.716	0.91675	0.0:0.0:1.0:0.0	.	.	.	.	X	28;11	.	ENSP00000246069:E28X	E	+	1	0	DSTN	17529461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.771000	0.98977	2.681000	0.91329	0.563000	0.77884	GAA		0.393	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546	
DSTN	11034	broad.mit.edu	37	20	17581541	17581541	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:17581541G>T	ENST00000246069.7	+	2	508	c.162G>T	c.(160-162)gaG>gaT	p.E54D	DSTN_ENST00000474024.1_Missense_Mutation_p.E37D	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	54	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.E54D(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGGCAAAGAGATCTTGGTTG	0.388																																					p.E54D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	20						.						139.0	129.0	133.0					20																	17581541		2203	4300	6503	17529541	SO:0001583	missense	11034	exon2			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.162G>T	20.37:g.17581541G>T	ENSP00000246069:p.Glu54Asp	Somatic		Capture	Illumina HiSeq	Phase_I	17529541	NM_006870	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701728	0.68501	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.33216	1.42;1.42	5.65	4.7	0.59300	Actin-binding, cofilin/tropomyosin type (3);	0.258323	0.41500	D	0.000866	T	0.35508	0.0934	M	0.70275	2.135	0.48571	D	0.999679	B	0.29212	0.237	B	0.28849	0.095	T	0.27365	-1.0076	10	0.72032	D	0.01	-23.7751	13.5279	0.61605	0.0745:0.0:0.9255:0.0	.	54	P60981	DEST_HUMAN	D	54;37	ENSP00000246069:E54D;ENSP00000444808:E37D	ENSP00000246069:E54D	E	+	3	2	DSTN	17529541	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.961000	0.56759	1.404000	0.46819	0.563000	0.77884	GAG		0.388	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546	
RRBP1	6238	broad.mit.edu	37	20	17608210	17608210	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:17608210C>A	ENST00000377813.1	-	10	3170	c.2867G>T	c.(2866-2868)aGa>aTa	p.R956I	RRBP1_ENST00000455029.2_Missense_Mutation_p.R297I|RRBP1_ENST00000377807.2_Missense_Mutation_p.R523I|RRBP1_ENST00000246043.4_Missense_Mutation_p.R956I|RRBP1_ENST00000360807.4_Missense_Mutation_p.R523I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	956					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.R523I(1)|p.R956I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGAACGGATTCTCTCTGTGAG	0.677																																					p.R523I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1568T	20						.						36.0	38.0	37.0					20																	17608210		2203	4299	6502	17556210	SO:0001583	missense	6238	exon11			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2867G>T	20.37:g.17608210C>A	ENSP00000367044:p.Arg956Ile	Somatic		Capture	Illumina HiSeq	Phase_I	17556210	NM_001042576	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	16.13	3.035864	0.54896	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.11	3.19	0.36642	.	0.190343	0.25903	N	0.027550	T	0.32941	0.0846	M	0.64997	1.995	0.58432	D	0.999999	P	0.47841	0.901	P	0.53360	0.724	T	0.03761	-1.1006	10	0.56958	D	0.05	-25.2599	10.649	0.45636	0.0:0.8442:0.0:0.1558	.	523	Q9P2E9-3	.	I	523;956;523;956;297	ENSP00000354045:R523I;ENSP00000367044:R956I;ENSP00000367038:R523I;ENSP00000246043:R956I;ENSP00000401206:R297I	ENSP00000246043:R956I	R	-	2	0	RRBP1	17556210	1.000000	0.71417	0.947000	0.38551	0.130000	0.20726	2.628000	0.46477	0.673000	0.31224	0.491000	0.48974	AGA		0.677	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
PDYN	5173	broad.mit.edu	37	20	1961213	1961213	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:1961213C>T	ENST00000217305.2	-	4	746	c.521G>A	c.(520-522)cGc>cAc	p.R174H	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R174H|PDYN_ENST00000540134.1_Missense_Mutation_p.R174H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R174H(3)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCCCCATAGCGTTTGACCTG	0.582																																					p.R174H												.	.	3	Substitution - Missense(3)	prostate(1)|large_intestine(1)|lung(1)	c.G521A	20						.						103.0	105.0	104.0					20																	1961213		2203	4300	6503	1909213	SO:0001583	missense	5173	exon3				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.521G>A	20.37:g.1961213C>T	ENSP00000217305:p.Arg174His	Somatic		Capture	Illumina HiSeq	Phase_I	1909213	NM_001190899	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563282	0.86335	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.89050	-2.46;-2.46;-2.46	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94944	0.8094	10	0.59425	D	0.04	-18.3393	15.5233	0.75881	0.0:1.0:0.0:0.0	.	174	P01213	PDYN_HUMAN	H	174	ENSP00000440185:R174H;ENSP00000442259:R174H;ENSP00000217305:R174H	ENSP00000217305:R174H	R	-	2	0	PDYN	1909213	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.270000	0.58896	2.531000	0.85337	0.491000	0.48974	CGC		0.582	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
RBBP9	10741	broad.mit.edu	37	20	18470507	18470507	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:18470507T>C	ENST00000337227.4	-	5	537	c.462A>G	c.(460-462)gaA>gaG	p.E154E	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	154					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.E154E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCAATTTGGTTTCCAACCTAT	0.448																																					p.E154E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A462G	20						.						120.0	117.0	118.0					20																	18470507		2203	4300	6503	18418507	SO:0001819	synonymous_variant	10741	exon5			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.462A>G	20.37:g.18470507T>C		Somatic		Capture	Illumina HiSeq	Phase_I	18418507	NM_006606	D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	T	9.285	1.049119	0.19827	.	.	ENSG00000089050	ENST00000339848	.	.	.	4.98	-1.41	0.08941	.	.	.	.	.	T	0.37210	0.0995	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16012	-1.0417	5	0.21540	T	0.41	-5.7998	2.2362	0.04009	0.1305:0.1676:0.4234:0.2786	.	.	.	.	R	153	.	ENSP00000342505:K153R	K	-	2	0	RBBP9	18418507	0.001000	0.12720	0.982000	0.44146	0.954000	0.61252	-0.489000	0.06490	-0.450000	0.07107	0.533000	0.62120	AAA		0.448	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606	
CFAP61	26074	broad.mit.edu	37	20	20079416	20079416	+	Missense_Mutation	SNP	G	G	A	rs151062566	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:20079416G>A	ENST00000245957.5	+	8	893	c.817G>A	c.(817-819)Gtt>Att	p.V273I	C20orf26_ENST00000377306.1_Missense_Mutation_p.V273I|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.V273I|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		273								p.V273I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCTGATGACGTTCTGGAATC	0.468																																					p.V273I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	20						.	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	156.0	126.0	136.0		817,817	-8.7	0.0	20	dbSNP_134	136	0,8600	1.2+/-3.3	0,0,4300	yes	missense,missense	C20orf26	NM_001167816.1,NM_015585.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	273/471,273/1238	20079416	1,13005	2203	4300	6503	20027416	SO:0001583	missense	26074	exon8																														ENST00000245957.5:c.817G>A	20.37:g.20079416G>A	ENSP00000245957:p.Val273Ile	Somatic		Capture	Illumina HiSeq	Phase_I	20027416	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	5.526	0.282009	0.10458	2.27E-4	0.0	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.61	-8.73	0.00841	.	0.360819	0.22200	N	0.063249	T	0.10508	0.0257	N	0.12746	0.255	0.48762	D	0.999704	B;B;B;B	0.13594	0.004;0.001;0.008;0.002	B;B;B;B	0.09377	0.004;0.002;0.002;0.003	T	0.40831	-0.9542	10	0.02654	T	1	.	13.5395	0.61666	0.6615:0.0767:0.2618:0.0	.	273;273;227;273	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	I	227;273;273;273;273;273;32;65	ENSP00000345553:V227I;ENSP00000245957:V273I;ENSP00000366521:V273I;ENSP00000414537:V273I;ENSP00000397311:V32I	ENSP00000245957:V273I	V	+	1	0	C20orf26	20027416	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-1.787000	0.01764	-1.671000	0.01466	-0.119000	0.15052	GTT		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
RALGAPA2	57186	broad.mit.edu	37	20	20392720	20392720	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:20392720G>A	ENST00000202677.7	-	38	5575	c.5568C>T	c.(5566-5568)ttC>ttT	p.F1856F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1856					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.F1856F(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTGGGCTGCGAAATCCTCGA	0.493																																					p.F1856F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5568T	20						.						193.0	196.0	195.0					20																	20392720		1958	4150	6108	20340720	SO:0001819	synonymous_variant	57186	exon38			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5568C>T	20.37:g.20392720G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20340720	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	6.190	0.403248	0.11754	.	.	ENSG00000188559	ENST00000430436	.	.	.	5.94	-2.43	0.06522	.	.	.	.	.	T	0.63141	0.2486	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60885	-0.7174	4	.	.	.	.	12.9781	0.58547	0.7629:0.0:0.2371:0.0	.	.	.	.	L	1673	.	.	S	-	2	0	RALGAPA2	20340720	0.862000	0.29867	0.971000	0.41717	0.997000	0.91878	0.040000	0.13905	-0.445000	0.07159	0.563000	0.77884	TCG		0.493	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
TGM3	7053	broad.mit.edu	37	20	2290958	2290958	+	Missense_Mutation	SNP	G	G	A	rs146616453	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:2290958G>A	ENST00000381458.5	+	3	379	c.316G>A	c.(316-318)Gca>Aca	p.A106T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	106					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.A106T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCCTGCCAGCGCACCCATAGG	0.547																																					p.A106T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	20						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	187.0	165.0	173.0		316	4.3	0.4	20	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM3	NM_003245.3	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	106/694	2290958	3,13003	2203	4300	6503	2238958	SO:0001583	missense	7053	exon3			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.316G>A	20.37:g.2290958G>A	ENSP00000370867:p.Ala106Thr	Somatic		Capture	Illumina HiSeq	Phase_I	2238958	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311947	0.81358	2.27E-4	2.33E-4	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.63913	-0.07	5.34	4.33	0.51752	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.052315	0.85682	D	0.000000	T	0.81187	0.4770	M	0.90145	3.09	0.51767	D	0.999937	D	0.89917	1.0	D	0.77004	0.989	D	0.84694	0.0724	10	0.87932	D	0	.	12.4879	0.55883	0.0:0.0:0.8322:0.1678	.	106	Q08188	TGM3_HUMAN	T	106	ENSP00000370867:A106T	ENSP00000370867:A106T	A	+	1	0	TGM3	2238958	1.000000	0.71417	0.435000	0.26784	0.694000	0.40290	4.304000	0.59104	2.498000	0.84270	0.462000	0.41574	GCA		0.547	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
TGM3	7053	broad.mit.edu	37	20	2321213	2321213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:2321213G>A	ENST00000381458.5	+	13	2131	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	690					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.D690N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTTGTCCATCGATGTAGCCGA	0.582																																					p.D690N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2068A	20						.						121.0	85.0	97.0					20																	2321213		2203	4300	6503	2269213	SO:0001583	missense	7053	exon13			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.2068G>A	20.37:g.2321213G>A	ENSP00000370867:p.Asp690Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2269213	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	5.462	0.270275	0.10349	.	.	ENSG00000125780	ENST00000381458	T	0.68025	-0.3	4.68	3.73	0.42828	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.409870	0.27008	N	0.021395	T	0.50684	0.1630	L	0.36672	1.1	0.21105	N	0.99979	B	0.27853	0.191	B	0.17433	0.018	T	0.34650	-0.9820	10	0.27785	T	0.31	-18.5351	8.9918	0.36028	0.1018:0.0:0.8982:0.0	.	690	Q08188	TGM3_HUMAN	N	690	ENSP00000370867:D690N	ENSP00000370867:D690N	D	+	1	0	TGM3	2269213	0.919000	0.31177	0.280000	0.24747	0.062000	0.15995	2.556000	0.45862	1.181000	0.42912	0.655000	0.94253	GAT		0.582	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
XRN2	22803	broad.mit.edu	37	20	21337284	21337284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:21337284G>T	ENST00000377191.3	+	23	2274	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.E673*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.E651*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	727					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E727*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTTGGATGAAGAAGCCATTCT	0.368																																					p.E727X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2179T	20						.						73.0	68.0	69.0					20																	21337284		2203	4300	6503	21285284	SO:0001587	stop_gained	22803	exon23			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2179G>T	20.37:g.21337284G>T	ENSP00000366396:p.Glu727*	Somatic		Capture	Illumina HiSeq	Phase_I	21285284	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	40	8.184288	0.98693	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.71	5.71	0.89125	.	0.192296	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-11.955	10.8888	0.46984	0.1135:0.0:0.8865:0.0	.	.	.	.	X	727;651;673	.	ENSP00000366396:E727X	E	+	1	0	XRN2	21285284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.035000	0.64158	2.697000	0.92050	0.591000	0.81541	GAA		0.368	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
GZF1	64412	broad.mit.edu	37	20	23346071	23346071	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:23346071G>A	ENST00000338121.5	+	2	1128	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.D351N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	351					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.D351N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTACCGCTGCGACACCTGCGG	0.617																																					p.D351N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051A	20						.						57.0	59.0	58.0					20																	23346071		2203	4299	6502	23294071	SO:0001583	missense	64412	exon1			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1051G>A	20.37:g.23346071G>A	ENSP00000338290:p.Asp351Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23294071	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472574	0.63737	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.50277	0.75;0.75	4.45	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.40670	0.1126	L	0.37800	1.135	0.80722	D	1	P	0.50528	0.936	P	0.49012	0.598	T	0.11446	-1.0587	10	0.09338	T	0.73	.	12.0378	0.53435	0.0865:0.0:0.9135:0.0	.	351	Q9H116	GZF1_HUMAN	N	351	ENSP00000338290:D351N;ENSP00000366250:D351N	ENSP00000338290:D351N	D	+	1	0	GZF1	23294071	1.000000	0.71417	0.992000	0.48379	0.859000	0.49053	4.884000	0.63135	2.317000	0.78254	0.557000	0.71058	GAC		0.617	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482	
CSTL1	128817	broad.mit.edu	37	20	23424620	23424620	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:23424620A>C	ENST00000246020.2	+	2	289	c.269A>C	c.(268-270)aAa>aCa	p.K90T	CSTL1_ENST00000347397.1_Missense_Mutation_p.K90T			Q9H114	CST1L_HUMAN	cystatin-like 1	90						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.K90T(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGCTGGACCAAATGCAAGAGG	0.502																																					p.K90T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269C	20						.						145.0	121.0	129.0					20																	23424620		2203	4300	6503	23372620	SO:0001583	missense	128817	exon3			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.269A>C	20.37:g.23424620A>C	ENSP00000246020:p.Lys90Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23372620	NM_138283	Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	A	0.254	-1.004689	0.02112	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.24723	1.84;1.84	4.06	1.69	0.24217	Proteinase inhibitor I25, cystatin (2);	0.523791	0.16218	N	0.224164	T	0.11665	0.0284	N	0.21373	0.66	0.26336	N	0.977441	B	0.23937	0.094	B	0.24269	0.052	T	0.35624	-0.9781	10	0.02654	T	1	-10.1863	4.6261	0.12479	0.6022:0.203:0.0:0.1947	.	90	Q9H114	CST1L_HUMAN	T	90	ENSP00000344907:K90T;ENSP00000246020:K90T	ENSP00000246020:K90T	K	+	2	0	CSTL1	23372620	0.999000	0.42202	0.918000	0.36340	0.051000	0.14879	0.619000	0.24388	0.324000	0.23333	-0.461000	0.05368	AAA		0.502	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1		
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:23432486C>T	ENST00000377009.3	-	2	333	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	100					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.T100T(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522																																					p.T100T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	20						.						123.0	106.0	112.0					20																	23432486		2203	4300	6503	23380486	SO:0001819	synonymous_variant	140880	exon2			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.300G>A	20.37:g.23432486C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23380486	NM_130794	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	CCDS13155.1																																																																																				0.522	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794	
CST3	1471	broad.mit.edu	37	20	23614559	23614559	+	Silent	SNP	G	G	A	rs201422446		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:23614559G>A	ENST00000398411.1	-	3	517	c.435C>T	c.(433-435)gaC>gaT	p.D145D	CST3_ENST00000398409.1_Silent_p.D145D|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000376925.3_Silent_p.D145D			P01034	CYTC_HUMAN	cystatin C	145					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)	p.D145D(1)		large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ACCCCTAGGCGTCCTGACAGG	0.582																																					p.D145D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C435T	20						.						145.0	116.0	126.0					20																	23614559		2203	4300	6503	23562559	SO:0001819	synonymous_variant	1471	exon3				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.435C>T	20.37:g.23614559G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23562559	NM_000099	B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	CCDS13158.1																																																																																				0.582	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099	
ABHD12	26090	broad.mit.edu	37	20	25304034	25304034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:25304034G>T	ENST00000339157.5	-	3	621	c.349C>A	c.(349-351)Cca>Aca	p.P117T	ABHD12_ENST00000376542.3_Missense_Mutation_p.P117T	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	117					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.P117T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGATCCTGTGGTTTTTTCAAA	0.433																																					p.P117T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349A	20						.						168.0	153.0	158.0					20																	25304034		2203	4300	6503	25252034	SO:0001583	missense	26090	exon3			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.349C>A	20.37:g.25304034G>T	ENSP00000341408:p.Pro117Thr	Somatic		Capture	Illumina HiSeq	Phase_I	25252034	NM_015600	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251169	0.80135	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.63580	-0.05;-0.05;-0.05	5.67	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	M	0.82823	2.61	0.80722	D	1	D;P;P	0.89917	1.0;0.91;0.946	D;P;P	0.91635	0.999;0.469;0.67	D	0.83684	0.0173	10	0.87932	D	0	-0.7263	14.3682	0.66820	0.0718:0.0:0.9282:0.0	.	72;117;117	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	T	117;117;79;72	ENSP00000365725:P117T;ENSP00000341408:P117T;ENSP00000413311:P72T	ENSP00000341408:P117T	P	-	1	0	ABHD12	25252034	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	8.141000	0.89618	1.540000	0.49301	0.655000	0.94253	CCA		0.433	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600	
CPXM1	56265	broad.mit.edu	37	20	2776058	2776058	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:2776058C>A	ENST00000380605.2	-	12	1789	c.1725G>T	c.(1723-1725)atG>atT	p.M575I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	575					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.M575I(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAAGTCATTCATGCCTAAGG	0.562																																					p.M501I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1503T	20						.						109.0	101.0	104.0					20																	2776058		2203	4300	6503	2724058	SO:0001583	missense	56265	exon12			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1725G>T	20.37:g.2776058C>A	ENSP00000369979:p.Met575Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2724058	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158028	0.78114	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.11169	2.8	5.4	5.4	0.78164	Peptidase M14, carboxypeptidase A (2);	0.075653	0.85682	D	0.000000	T	0.20861	0.0502	M	0.80982	2.52	0.80722	D	1	P	0.51351	0.944	B	0.43658	0.426	T	0.01635	-1.1307	10	0.51188	T	0.08	-32.3221	16.7195	0.85406	0.0:1.0:0.0:0.0	.	575	Q96SM3	CPXM1_HUMAN	I	575;271	ENSP00000369979:M575I	ENSP00000369979:M575I	M	-	3	0	CPXM1	2724058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.830000	0.62745	2.814000	0.96858	0.563000	0.77884	ATG		0.562	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
CPXM1	56265	broad.mit.edu	37	20	2777708	2777708	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:2777708A>G	ENST00000380605.2	-	7	929	c.865T>C	c.(865-867)Tcg>Ccg	p.S289P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	289					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S289P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGGATCCCGACGCAGGGGCC	0.537																																					p.S289P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T865C	20						.						80.0	82.0	82.0					20																	2777708		2203	4300	6503	2725708	SO:0001583	missense	56265	exon7			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.865T>C	20.37:g.2777708A>G	ENSP00000369979:p.Ser289Pro	Somatic		Capture	Illumina HiSeq	Phase_I	2725708	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	7.145	0.582623	0.13749	.	.	ENSG00000088882	ENST00000380605	D	0.95447	-3.71	5.24	0.505	0.16953	.	0.899091	0.09549	N	0.787114	D	0.85678	0.5752	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.74959	-0.3486	10	0.32370	T	0.25	0.2005	5.8862	0.18882	0.2986:0.1294:0.572:0.0	.	289;289	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	P	289	ENSP00000369979:S289P	ENSP00000369979:S289P	S	-	1	0	CPXM1	2725708	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.179000	0.16840	-0.111000	0.12001	-1.676000	0.00740	TCG		0.537	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
NINL	22981	broad.mit.edu	37	20	25457555	25457555	+	Missense_Mutation	SNP	G	G	A	rs141954162	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:25457555G>A	ENST00000278886.6	-	17	2445	c.2372C>T	c.(2371-2373)gCg>gTg	p.A791V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	791					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.A791V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTTCTCGCTCGCACAGGGCTG	0.687													g|||	7	0.00139776	0.0	0.0072	5008	,	,		16296	0.0		0.002	False		,,,				2504	0.0				p.A791V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2372T	20						.	A	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	39.0	33.0	35.0		2372	-0.2	0.0	20	dbSNP_134	35	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NINL	NM_025176.4	64	0,7,6496	AA,AG,GG		0.0465,0.0681,0.0538	benign	791/1383	25457555	7,12999	2203	4300	6503	25405555	SO:0001583	missense	22981	exon17				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2372C>T	20.37:g.25457555G>A	ENSP00000278886:p.Ala791Val	Somatic		Capture	Illumina HiSeq	Phase_I	25405555	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	g	2.607	-0.291619	0.05568	6.81E-4	4.65E-4	ENSG00000101004	ENST00000278886	T	0.25250	1.81	3.48	-0.147	0.13428	.	3.342430	0.01087	N	0.005101	T	0.10208	0.0250	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.16630	-1.0396	10	0.14656	T	0.56	0.2609	6.7257	0.23355	0.7518:0.0:0.2482:0.0	.	791	Q9Y2I6	NINL_HUMAN	V	791	ENSP00000278886:A791V	ENSP00000278886:A791V	A	-	2	0	NINL	25405555	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.207000	0.17395	-0.250000	0.09555	-1.212000	0.01626	GCG		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Intron	SNP	C	C	T	rs181386606		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:29976964C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.R44Q|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20317	0.001		0.0	False		,,,				2504	0.0				p.R44Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	20						.	C	,GLN/ARG,	0,4406		0,0,2203	210.0	179.0	190.0		,131,	-7.4	0.0	20		190	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,44/89,	29976964	1,13005	2203	4300	6503	29440625	SO:0001627	intron_variant	245932	exon2			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1261G>A	20.37:g.29976964C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29440625	NM_153323	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	CCDS13178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.890815	0.52014	0.0	1.16E-4	ENSG00000180483	ENST00000376315	T	0.12147	2.71	3.71	-7.43	0.01383	.	4.895910	0.00541	N	0.000227	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.17684	-1.0361	9	0.38643	T	0.18	8.8927	1.4233	0.02317	0.1537:0.2175:0.2377:0.3912	.	44	Q8N690-2	.	Q	44	ENSP00000365492:R44Q	ENSP00000365492:R44Q	R	-	2	0	DEFB119	29440625	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-2.121000	0.01322	-3.536000	0.00145	-0.251000	0.11542	CGA		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289	
TPX2	22974	broad.mit.edu	37	20	30366672	30366672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30366672G>T	ENST00000300403.6	+	10	1467	c.939G>T	c.(937-939)aaG>aaT	p.K313N	TPX2_ENST00000340513.4_Missense_Mutation_p.K313N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	313					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.K313N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCCAAGGAAAGAAAAGAACAT	0.418																																					p.K313N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G939T	20						.						137.0	128.0	131.0					20																	30366672		2203	4300	6503	29830333	SO:0001583	missense	22974	exon10			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.939G>T	20.37:g.30366672G>T	ENSP00000300403:p.Lys313Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29830333	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909647	0.52439	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32753	1.44	4.93	3.98	0.46160	.	0.403747	0.29369	N	0.012354	T	0.38214	0.1032	M	0.62723	1.935	0.44275	D	0.997136	D;B	0.59767	0.986;0.031	P;B	0.53266	0.722;0.011	T	0.14783	-1.0460	10	0.37606	T	0.19	-20.7903	7.173	0.25728	0.0923:0.187:0.7206:0.0	.	313;313	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	313	ENSP00000341145:K313N	ENSP00000300403:K313N	K	+	3	2	TPX2	29830333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.551000	0.36233	1.439000	0.47511	0.655000	0.94253	AAG		0.418	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
TPX2	22974	broad.mit.edu	37	20	30366755	30366755	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30366755G>T	ENST00000300403.6	+	10	1550	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TPX2_ENST00000340513.4_Missense_Mutation_p.R341I	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	341					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.R341I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCCCTAACAGATATCATTTG	0.413																																					p.R341I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022T	20						.						101.0	95.0	97.0					20																	30366755		2203	4300	6503	29830416	SO:0001583	missense	22974	exon10			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1022G>T	20.37:g.30366755G>T	ENSP00000300403:p.Arg341Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29830416	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678151	0.88542	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.61274	0.12	4.93	4.93	0.64822	.	0.055638	0.64402	D	0.000001	T	0.75510	0.3859	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.994;0.998	T	0.77726	-0.2480	10	0.66056	D	0.02	-16.5794	15.8082	0.78531	0.0:0.0:1.0:0.0	.	341;341	Q96RR5;Q9ULW0	.;TPX2_HUMAN	I	341	ENSP00000341145:R341I	ENSP00000300403:R341I	R	+	2	0	TPX2	29830416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.855000	0.75445	2.716000	0.92895	0.655000	0.94253	AGA		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
PDRG1	81572	broad.mit.edu	37	20	30536662	30536662	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30536662T>C	ENST00000202017.4	-	3	317	c.187A>G	c.(187-189)Aac>Gac	p.N63D		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	63					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)		p.N63D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATAAACATGTTCCCGAAGCAA	0.433																																					p.N63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187G	20						.						174.0	158.0	163.0					20																	30536662		2203	4300	6503	30000323	SO:0001583	missense	81572	exon3			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.187A>G	20.37:g.30536662T>C	ENSP00000202017:p.Asn63Asp	Somatic		Capture	Illumina HiSeq	Phase_I	30000323	NM_030815	B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	ENST00000202017.4	37	CCDS13194.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852122	0.32699	.	.	ENSG00000088356	ENST00000202017	T	0.39997	1.05	5.63	3.37	0.38596	Prefoldin beta-like (1);	0.431857	0.30999	N	0.008442	T	0.24509	0.0594	N	0.21508	0.67	0.35832	D	0.825359	B	0.09022	0.002	B	0.11329	0.006	T	0.15665	-1.0429	10	0.17369	T	0.5	-1.74	7.1955	0.25849	0.0:0.1764:0.0:0.8236	.	63	Q9NUG6	PDRG1_HUMAN	D	63	ENSP00000202017:N63D	ENSP00000202017:N63D	N	-	1	0	PDRG1	30000323	1.000000	0.71417	0.993000	0.49108	0.848000	0.48234	2.410000	0.44592	0.505000	0.28104	0.455000	0.32223	AAC		0.433	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2	NM_030815	
CCM2L	140706	broad.mit.edu	37	20	30610516	30610516	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30610516C>T	ENST00000300415.8	+	6	1000	c.987C>T	c.(985-987)taC>taT	p.Y329Y	CCM2L_ENST00000262659.8_Silent_p.Y329Y			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	329								p.Y329Y(3)									AGATCATCTACGGGGACCAGA	0.587																																					p.Y329Y												.	.	3	Substitution - coding silent(3)	large_intestine(2)|prostate(1)	c.C987T	20						.						128.0	105.0	113.0					20																	30610516		2203	4300	6503	30074177	SO:0001819	synonymous_variant	140706	exon6			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.987C>T	20.37:g.30610516C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30074177	NM_080625	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37																																																																																					0.587	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625	
KIF3B	9371	broad.mit.edu	37	20	30898846	30898846	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30898846G>T	ENST00000375712.3	+	2	1433	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	422					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.E422D(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAAACTGGAGATTGAGAAGC	0.547																																					p.E422D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1266T	20						.						80.0	74.0	76.0					20																	30898846		2203	4300	6503	30362507	SO:0001583	missense	9371	exon2			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1266G>T	20.37:g.30898846G>T	ENSP00000364864:p.Glu422Asp	Somatic		Capture	Illumina HiSeq	Phase_I	30362507	NM_004798	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124101	0.56613	.	.	ENSG00000101350	ENST00000375712	T	0.75938	-0.98	4.93	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	D	0.64506	0.926	T	0.76219	-0.3039	10	0.40728	T	0.16	.	8.5428	0.33404	0.2384:0.0:0.7616:0.0	.	422	O15066	KIF3B_HUMAN	D	422	ENSP00000364864:E422D	ENSP00000364864:E422D	E	+	3	2	KIF3B	30362507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.021000	0.57196	0.697000	0.31718	0.448000	0.29417	GAG		0.547	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798	
FASTKD5	60493	broad.mit.edu	37	20	3127480	3127480	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3127480C>T	ENST00000380266.3	-	2	2558	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	746	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R746Q(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TAAGCGAGTTCGTTTCAGTAG	0.483																																					p.R746Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2237A	20						.						119.0	117.0	118.0					20																	3127480		2203	4300	6503	3075480	SO:0001583	missense	60493	exon2			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2237G>A	20.37:g.3127480C>T	ENSP00000369618:p.Arg746Gln	Somatic		Capture	Illumina HiSeq	Phase_I	3075480	NM_021826	Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066595	0.55539	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.83	3.9	0.45041	RAP domain (3);	0.134024	0.31784	N	0.007079	T	0.13628	0.0330	L	0.45137	1.4	0.38939	D	0.95811	P	0.40731	0.728	B	0.33454	0.164	T	0.08472	-1.0720	10	0.56958	D	0.05	.	11.7979	0.52110	0.0:0.8596:0.0:0.1404	.	746	Q7L8L6	FAKD5_HUMAN	Q	746	ENSP00000369618:R746Q	ENSP00000369618:R746Q	R	-	2	0	FASTKD5	3075480	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.215000	0.42862	1.467000	0.48044	0.655000	0.94253	CGA		0.483	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826	
ASXL1	171023	broad.mit.edu	37	20	30954253	30954253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:30954253G>T	ENST00000375687.4	+	2	548	c.124G>T	c.(124-126)Gga>Tga	p.G42*	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Nonsense_Mutation_p.G42*|ASXL1_ENST00000375689.1_Nonsense_Mutation_p.G38*|ASXL1_ENST00000306058.5_Nonsense_Mutation_p.G38*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	42					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G42*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAGGCAGAAGGACTAAAGGA	0.383			"""F, N, Mis"""		"""MDS, CMML"""																																p.G42X			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G124T	20						.						259.0	232.0	241.0					20																	30954253		2203	4300	6503	30417914	SO:0001587	stop_gained	171023	exon2			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.124G>T	20.37:g.30954253G>T	ENSP00000364839:p.Gly42*	Somatic		Capture	Illumina HiSeq	Phase_I	30417914	NM_001164603	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.687572|4.687572	0.88639|0.88639	.|.	.|.	ENSG00000171456|ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058|ENST00000497249	.|.	.|.	.|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66107	.|0.2756	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69800	.|-0.5047	.|3	0.87932|.	D|.	0|.	-12.6033|-12.6033	15.2795|15.2795	0.73770|0.73770	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	42;42;42;42;42;32;38;38|30	.|.	ENSP00000305119:G38X|.	G|R	+|+	1|2	0|0	ASXL1|ASXL1	30417914|30417914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	4.000000|4.000000	0.57039|0.57039	2.680000|2.680000	0.91292|0.91292	0.643000|0.643000	0.83706|0.83706	GGA|AGG		0.383	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
DNMT3B	1789	broad.mit.edu	37	20	31388676	31388676	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31388676C>T	ENST00000328111.2	+	18	2262	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	DNMT3B_ENST00000443239.3_Silent_p.G585G|DNMT3B_ENST00000353855.2_Silent_p.G627G|DNMT3B_ENST00000456297.2_Silent_p.G551G|DNMT3B_ENST00000344505.4_Silent_p.G627G|DNMT3B_ENST00000348286.2_Silent_p.G627G|DNMT3B_ENST00000201963.3_Silent_p.G639G|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	647	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.G639G(1)|p.G647G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGATTGGCGGAAGCCCAT	0.527																																					p.G627G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1881T	20						.						182.0	184.0	183.0					20																	31388676		2203	4300	6503	30852337	SO:0001819	synonymous_variant	1789	exon17				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1941C>T	20.37:g.31388676C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30852337	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																				0.527	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
BPIFB6	128859	broad.mit.edu	37	20	31623423	31623423	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31623423T>C	ENST00000349552.1	+	6	522	c.522T>C	c.(520-522)tgT>tgC	p.C174C		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	174						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.C174C(1)									TCCAGATGTGTCCCGCCATCG	0.582																																					p.C174C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T522C	20						.						232.0	164.0	187.0					20																	31623423		2203	4300	6503	31087084	SO:0001819	synonymous_variant	128859	exon6			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.522T>C	20.37:g.31623423T>C		Somatic		Capture	Illumina HiSeq	Phase_I	31087084	NM_174897		Silent	SNP	ENST00000349552.1	37	CCDS13211.1																																																																																				0.582	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
BPIFA3	128861	broad.mit.edu	37	20	31813033	31813033	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31813033C>A	ENST00000375454.3	+	4	726	c.516C>A	c.(514-516)gtC>gtA	p.V172V	BPIFA3_ENST00000375452.3_Silent_p.V136V|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	172						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V172V(1)									CCAGCAGTGTCCATGTGGCCA	0.587																																					p.V172V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516A	20						.						159.0	154.0	156.0					20																	31813033		2203	4300	6503	31276694	SO:0001819	synonymous_variant	128861	exon4				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.516C>A	20.37:g.31813033C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31276694	NM_178466	Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	CCDS13216.2																																																																																				0.587	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	
BPIFB1	92747	broad.mit.edu	37	20	31890735	31890735	+	Missense_Mutation	SNP	T	T	A	rs569005325		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31890735T>A	ENST00000253354.1	+	11	1156	c.995T>A	c.(994-996)cTg>cAg	p.L332Q	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	332					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.L332Q(1)									GCAGATAAGCTGGGATCTACC	0.572																																					p.L332Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T995A	20						.						82.0	73.0	76.0					20																	31890735		2203	4300	6503	31354396	SO:0001583	missense	92747	exon11			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.995T>A	20.37:g.31890735T>A	ENSP00000253354:p.Leu332Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31354396	NM_033197	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027897	0.54790	.	.	ENSG00000125999	ENST00000253354	T	0.08896	3.04	5.28	5.28	0.74379	.	0.125321	0.36482	N	0.002569	T	0.26484	0.0647	M	0.72894	2.215	0.18873	N	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.05289	-1.0894	10	0.72032	D	0.01	-8.9309	11.5161	0.50522	0.0:0.0:0.0:1.0	.	332	Q8TDL5	BPIB1_HUMAN	Q	332	ENSP00000253354:L332Q	ENSP00000253354:L332Q	L	+	2	0	BPIFB1	31354396	0.836000	0.29430	0.064000	0.19789	0.014000	0.08584	3.404000	0.52623	2.217000	0.71921	0.379000	0.24179	CTG		0.572	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	
SLC4A11	83959	broad.mit.edu	37	20	3215509	3215509	+	Silent	SNP	G	G	A	rs577502313		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3215509G>A	ENST00000380056.3	-	2	215	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SLC4A11_ENST00000539553.2_Silent_p.F40F|SLC4A11_ENST00000380059.3_Silent_p.F83F	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	56					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.F56F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCGGGCTTCGAAGGTGTCAT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19534	0.0		0.0	False		,,,				2504	0.001				p.F40F	NSCLC(190;922 2139 10266 10292 38692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	20						.						105.0	96.0	99.0					20																	3215509		2203	4300	6503	3163509	SO:0001819	synonymous_variant	83959	exon3			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.168C>T	20.37:g.3215509G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3163509	NM_001174089	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.547	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		
CDK5RAP1	51654	broad.mit.edu	37	20	31967458	31967458	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31967458T>G	ENST00000357886.4	-	9	1111	c.958A>C	c.(958-960)Agt>Cgt	p.S320R	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S306R|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S306R|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.S216R			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	320					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.S306R(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCCGAAAACTATTAACATTC	0.403																																					p.S216R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A646C	20						.						109.0	106.0	107.0					20																	31967458		2203	4300	6503	31431119	SO:0001583	missense	51654	exon8			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.958A>C	20.37:g.31967458T>G	ENSP00000350558:p.Ser320Arg	Somatic		Capture	Illumina HiSeq	Phase_I	31431119	NM_016082	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	T	26.3	4.727718	0.89390	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.37	5.37	0.77165	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.036871	0.85682	D	0.000000	D	0.90356	0.6982	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.91857	0.5496	10	0.87932	D	0	-17.7699	13.3712	0.60713	0.0:0.0:0.0:1.0	.	320;306;306;306;216	Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	CK5P1_HUMAN;.;.;.;.	R	306;320;216;306	ENSP00000217372:S306R;ENSP00000350558:S320R;ENSP00000408133:S216R;ENSP00000439034:S306R	ENSP00000217372:S306R	S	-	1	0	CDK5RAP1	31431119	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.591000	0.82666	2.248000	0.74166	0.459000	0.35465	AGT		0.403	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408	
C20orf194	25943	broad.mit.edu	37	20	3233310	3233310	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3233310C>A	ENST00000252032.9	-	37	3509	c.3442G>T	c.(3442-3444)Gac>Tac	p.D1148Y	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1148								p.D1148Y(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCACGTAGTCATTCATGAAC	0.532																																					p.D1148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3442T	20						.						201.0	196.0	198.0					20																	3233310		1959	4152	6111	3181310	SO:0001583	missense	25943	exon37			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3442G>T	20.37:g.3233310C>A	ENSP00000252032:p.Asp1148Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3181310	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546581	0.86022	.	.	ENSG00000088854	ENST00000252032	T	0.23950	1.88	5.79	5.79	0.91817	.	0.055231	0.64402	D	0.000001	T	0.50120	0.1597	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.44862	-0.9300	10	0.87932	D	0	.	20.0435	0.97601	0.0:1.0:0.0:0.0	.	887;1148	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Y	1148	ENSP00000252032:D1148Y	ENSP00000252032:D1148Y	D	-	1	0	C20orf194	3181310	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.249000	0.72427	2.731000	0.93534	0.650000	0.86243	GAC		0.532	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
C20orf194	25943	broad.mit.edu	37	20	3234400	3234400	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3234400G>T	ENST00000252032.9	-	36	3460	c.3393C>A	c.(3391-3393)ttC>ttA	p.F1131L	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1131								p.F1131L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTCACCAAAGAAGTTAACAA	0.478																																					p.F1131L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3393A	20						.						87.0	92.0	90.0					20																	3234400		1989	4161	6150	3182400	SO:0001583	missense	25943	exon36			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3393C>A	20.37:g.3234400G>T	ENSP00000252032:p.Phe1131Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3182400	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532583	0.45073	.	.	ENSG00000088854	ENST00000252032	T	0.20332	2.08	5.59	3.63	0.41609	.	0.055575	0.64402	D	0.000001	T	0.32734	0.0839	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.76071	0.987;0.979	T	0.07214	-1.0784	10	0.11794	T	0.64	.	11.0936	0.48130	0.2122:0.0:0.7878:0.0	.	870;1131	Q0IIP3;Q5TEA3	.;CT194_HUMAN	L	1131	ENSP00000252032:F1131L	ENSP00000252032:F1131L	F	-	3	2	C20orf194	3182400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.488000	0.53229	1.356000	0.45884	0.655000	0.94253	TTC		0.478	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
CBFA2T2	9139	broad.mit.edu	37	20	32217586	32217586	+	Missense_Mutation	SNP	G	G	A	rs145709031		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:32217586G>A	ENST00000346541.3	+	9	1658	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R384H|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R374H|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R345H|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R345H|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R365H	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	374					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R374H(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTTCTGCGGCGCTGTCAGGAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18225	0.0		0.001	False		,,,				2504	0.0				p.R365H	Esophageal Squamous(174;142 1955 14837 21276 28041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1094A	20						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	91.0	90.0		1094,1034,1121	4.5	1.0	20	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CBFA2T2	NM_001032999.2,NM_001039709.1,NM_005093.3	29,29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	365/596,345/576,374/605	32217586	3,13003	2203	4300	6503	31681247	SO:0001583	missense	9139	exon8			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1121G>A	20.37:g.32217586G>A	ENSP00000262653:p.Arg374His	Somatic		Capture	Illumina HiSeq	Phase_I	31681247	NM_001032999	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	CCDS13221.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.9	5.041299	0.93685	2.27E-4	2.33E-4	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.45	4.5	0.54988	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75255	-0.3382	10	0.59425	D	0.04	-12.7851	14.4826	0.67592	0.0709:0.0:0.9291:0.0	.	374;365	O43439;F8W6D7	MTG8R_HUMAN;.	H	148;374;365;374;345;384	ENSP00000364428:R374H;ENSP00000345810:R365H;ENSP00000262653:R374H;ENSP00000380902:R345H;ENSP00000352622:R384H	ENSP00000345810:R365H	R	+	2	0	CBFA2T2	31681247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	1.436000	0.47453	0.563000	0.77884	CGC		0.502	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999	
EIF2S2	8894	broad.mit.edu	37	20	32693249	32693249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:32693249C>A	ENST00000374980.2	-	2	339	c.118G>T	c.(118-120)Gaa>Taa	p.E40*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E40*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTTTTGTTTCTGAAGGCTGG	0.428																																					p.E40X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G118T	20						.						154.0	131.0	139.0					20																	32693249		2203	4300	6503	32156910	SO:0001587	stop_gained	8894	exon2			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.118G>T	20.37:g.32693249C>A	ENSP00000364119:p.Glu40*	Somatic		Capture	Illumina HiSeq	Phase_I	32156910	NM_003908	Q9BVU0|Q9UJE4	Nonsense_Mutation	SNP	ENST00000374980.2	37	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	C	37	6.544623	0.97650	.	.	ENSG00000125977	ENST00000374980	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.3465	19.8041	0.96521	0.0:1.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000364119:E40X	E	-	1	0	EIF2S2	32156910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.767000	0.74975	2.748000	0.94277	0.591000	0.81541	GAA		0.428	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908	
C20orf194	25943	broad.mit.edu	37	20	3295726	3295726	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3295726T>A	ENST00000252032.9	-	20	1699	c.1632A>T	c.(1630-1632)gaA>gaT	p.E544D	C20orf194_ENST00000453730.2_Missense_Mutation_p.E282D|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	544								p.E544D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GATATGCTCCTTCTCCTCCTG	0.398																																					p.E544D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1632T	20						.						144.0	140.0	141.0					20																	3295726		1886	4103	5989	3243726	SO:0001583	missense	25943	exon20			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1632A>T	20.37:g.3295726T>A	ENSP00000252032:p.Glu544Asp	Somatic		Capture	Illumina HiSeq	Phase_I	3243726	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.363177	0.24684	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34275	2.15;1.37	5.02	-1.56	0.08532	.	0.109138	0.64402	D	0.000012	T	0.13500	0.0327	N	0.12569	0.235	0.26171	N	0.979862	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.18493	-1.0335	10	0.13853	T	0.58	.	4.2698	0.10780	0.258:0.3435:0.0:0.3985	.	283;544	Q0IIP3;Q5TEA3	.;CT194_HUMAN	D	544;282	ENSP00000252032:E544D;ENSP00000407229:E282D	ENSP00000252032:E544D	E	-	3	2	C20orf194	3243726	0.992000	0.36948	1.000000	0.80357	0.889000	0.51656	0.018000	0.13422	0.043000	0.15746	-0.263000	0.10527	GAA		0.398	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
AHCY	191	broad.mit.edu	37	20	32873319	32873319	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:32873319T>C	ENST00000217426.2	-	9	1171	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Missense_Mutation_p.Q337R	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	365					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.Q365R(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCCATCACCTGGTTGGTGAA	0.577																																					p.Q337R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1010G	20						.						93.0	80.0	84.0					20																	32873319		2203	4300	6503	32336980	SO:0001583	missense	191	exon9			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1094A>G	20.37:g.32873319T>C	ENSP00000217426:p.Gln365Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32336980	NM_001161766	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512012	0.85389	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81659	-1.52;-1.52	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	H	0.96943	3.91	0.80722	D	1	P	0.50066	0.931	P	0.54544	0.755	D	0.94118	0.7377	10	0.87932	D	0	.	14.8907	0.70606	0.0:0.0:0.0:1.0	.	365	P23526	SAHH_HUMAN	R	365;337	ENSP00000217426:Q365R;ENSP00000442820:Q337R	ENSP00000217426:Q365R	Q	-	2	0	AHCY	32336980	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.952000	0.87827	1.989000	0.58080	0.529000	0.55759	CAG		0.577	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687	
NCOA6	23054	broad.mit.edu	37	20	33328793	33328793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33328793G>T	ENST00000374796.2	-	12	7837	c.5267C>A	c.(5266-5268)tCt>tAt	p.S1756Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1756Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1756	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1756Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGGGGATGAGAAGGGACAAC	0.527																																					p.S1756Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5267A	20						.						82.0	82.0	82.0					20																	33328793		2203	4300	6503	32792454	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5267C>A	20.37:g.33328793G>T	ENSP00000363929:p.Ser1756Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	32792454	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096521	0.36952	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24538	1.85;1.85	5.54	4.6	0.57074	.	0.256554	0.34002	N	0.004359	T	0.18002	0.0432	N	0.14661	0.345	0.22511	N	0.999033	B	0.18166	0.026	B	0.22386	0.039	T	0.21348	-1.0248	10	0.56958	D	0.05	-2.8852	14.7426	0.69467	0.069:0.0:0.931:0.0	.	1756	Q14686	NCOA6_HUMAN	Y	1756	ENSP00000363929:S1756Y;ENSP00000351894:S1756Y	ENSP00000351894:S1756Y	S	-	2	0	NCOA6	32792454	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.134000	0.64770	1.584000	0.49913	-0.137000	0.14449	TCT		0.527	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33330434	33330434	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33330434G>A	ENST00000374796.2	-	12	6196	c.3626C>T	c.(3625-3627)cCc>cTc	p.P1209L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1209L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1209	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P1209L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGGTGTTTTGGGCCTAGATGT	0.557																																					p.P1209L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3626T	20						.						123.0	131.0	128.0					20																	33330434		2203	4300	6503	32794095	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3626C>T	20.37:g.33330434G>A	ENSP00000363929:p.Pro1209Leu	Somatic		Capture	Illumina HiSeq	Phase_I	32794095	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427981	0.83667	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.28069	1.63;1.63	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41980	-0.9478	10	0.72032	D	0.01	-8.252	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1209	Q14686	NCOA6_HUMAN	L	1209	ENSP00000363929:P1209L;ENSP00000351894:P1209L	ENSP00000351894:P1209L	P	-	2	0	NCOA6	32794095	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCC		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
GGT7	2686	broad.mit.edu	37	20	33450711	33450711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33450711C>T	ENST00000336431.5	-	3	507	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	155					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.E155K(1)|p.E155*(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTGAGCACCTCGATGCCCAGT	0.617																																					p.E155K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G463A	20						.						70.0	54.0	60.0					20																	33450711		2203	4300	6503	32914372	SO:0001583	missense	2686	exon3			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.463G>A	20.37:g.33450711C>T	ENSP00000338964:p.Glu155Lys	Somatic		Capture	Illumina HiSeq	Phase_I	32914372	NM_178026	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962353	0.74016	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.22945	1.93;1.93	5.04	4.09	0.47781	.	0.129930	0.56097	N	0.000039	T	0.22704	0.0548	L	0.55743	1.74	0.51233	D	0.999914	B;B;B	0.33022	0.394;0.005;0.189	B;B;B	0.25506	0.061;0.01;0.04	T	0.05084	-1.0907	10	0.72032	D	0.01	-15.9841	10.4697	0.44629	0.0:0.792:0.134:0.0741	.	155;155;155	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	K	155;172	ENSP00000338964:E155K;ENSP00000394993:E172K	ENSP00000338964:E155K	E	-	1	0	GGT7	32914372	0.991000	0.36638	0.993000	0.49108	0.984000	0.73092	2.949000	0.49074	1.115000	0.41800	0.651000	0.88453	GAG		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026	
C20orf194	25943	broad.mit.edu	37	20	3354717	3354717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3354717C>T	ENST00000252032.9	-	6	657	c.590G>A	c.(589-591)gGa>gAa	p.G197E		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	197								p.G197E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTAAAAAATCCATCCCCTCC	0.403																																					p.G197E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	20						.						138.0	128.0	131.0					20																	3354717		1901	4119	6020	3302717	SO:0001583	missense	25943	exon6			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.590G>A	20.37:g.3354717C>T	ENSP00000252032:p.Gly197Glu	Somatic		Capture	Illumina HiSeq	Phase_I	3302717	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172964	0.78452	.	.	ENSG00000088854	ENST00000252032	T	0.32272	1.46	5.14	5.14	0.70334	.	0.058689	0.64402	D	0.000002	T	0.54549	0.1865	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.56541	-0.7962	10	0.72032	D	0.01	.	17.5279	0.87805	0.0:1.0:0.0:0.0	.	197	Q5TEA3	CT194_HUMAN	E	197	ENSP00000252032:G197E	ENSP00000252032:G197E	G	-	2	0	C20orf194	3302717	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.406000	0.66357	2.660000	0.90430	0.650000	0.86243	GGA		0.403	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
GSS	2937	broad.mit.edu	37	20	33516728	33516728	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33516728T>G	ENST00000216951.2	-	13	1426	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	GSS_ENST00000451957.2_Missense_Mutation_p.K332T|GSS_ENST00000541098.1_Missense_Mutation_p.K315T	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	443					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.K443T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCCCACGTGCTTGTTCATCAC	0.572																																					p.K443T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1328C	20						.						188.0	127.0	148.0					20																	33516728		2203	4300	6503	32980389	SO:0001583	missense	2937	exon13				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1328A>C	20.37:g.33516728T>G	ENSP00000216951:p.Lys443Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32980389	NM_000178	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154808	0.78114	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90844	-2.74;-2.74;-2.74	4.95	3.83	0.44106	ATP-grasp fold, subdomain 2 (1);	0.097955	0.64402	D	0.000002	D	0.89839	0.6831	L	0.47016	1.485	0.47862	D	0.999539	B;P	0.39964	0.134;0.697	B;P	0.48063	0.255;0.565	D	0.88418	0.3026	10	0.51188	T	0.08	-14.7746	11.817	0.52216	0.0:0.0:0.1469:0.8531	.	332;443	B6F210;P48637	.;GSHB_HUMAN	T	443;315;332	ENSP00000216951:K443T;ENSP00000439744:K315T;ENSP00000407517:K332T	ENSP00000216951:K443T	K	-	2	0	GSS	32980389	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.936000	0.56568	0.893000	0.36288	0.459000	0.35465	AAG		0.572	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2		
MYH7B	57644	broad.mit.edu	37	20	33565852	33565852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33565852G>A	ENST00000262873.7	+	3	262	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	15						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R57H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCTACCTCCGCCAGGGCTAC	0.597																																					p.R57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	20						.						72.0	77.0	75.0					20																	33565852		2182	4279	6461	33029513	SO:0001583	missense	57644	exon5			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.170G>A	20.37:g.33565852G>A	ENSP00000262873:p.Arg57His	Somatic		Capture	Illumina HiSeq	Phase_I	33029513	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261115	0.95368	.	.	ENSG00000078814	ENST00000262873	D	0.87966	-2.32	4.84	4.84	0.62591	.	0.000000	0.35067	N	0.003476	D	0.87030	0.6076	N	0.08118	0	0.49582	D	0.999807	D	0.89917	1.0	D	0.79108	0.992	D	0.90370	0.4380	10	0.72032	D	0.01	.	18.1243	0.89581	0.0:0.0:1.0:0.0	.	15	A7E2Y1	MYH7B_HUMAN	H	57	ENSP00000262873:R57H	ENSP00000262873:R57H	R	+	2	0	MYH7B	33029513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.379000	0.90146	2.514000	0.84764	0.655000	0.94253	CGC		0.597	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
UQCC1	55245	broad.mit.edu	37	20	33971871	33971871	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:33971871C>T	ENST00000374385.5	-	3	372	c.195G>A	c.(193-195)caG>caA	p.Q65Q	UQCC1_ENST00000359226.2_Silent_p.Q65Q|UQCC1_ENST00000407996.2_Silent_p.Q65Q|UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000349714.5_Silent_p.Q65Q|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000374384.2_Silent_p.Q65Q|UQCC1_ENST00000397554.1_Silent_p.Q65Q|UQCC1_ENST00000542501.1_Silent_p.Q65Q|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000491125.1_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	65						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)		p.Q65Q(1)									TCCTATTCAGCTGTATGTCTA	0.428																																					p.Q65Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	20						.						187.0	151.0	163.0					20																	33971871		2203	4300	6503	33435285	SO:0001819	synonymous_variant	55245	exon3			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.195G>A	20.37:g.33971871C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33435285	NM_199487	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Silent	SNP	ENST00000374385.5	37	CCDS13252.1																																																																																				0.428	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244	
CEP250	11190	broad.mit.edu	37	20	34053899	34053899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34053899G>A	ENST00000397527.1	+	7	1082	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R121Q|CEP250_ENST00000397524.1_Missense_Mutation_p.R121Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	121					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R121Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACCCAGCTTCGACTGCACATG	0.532																																					p.R121Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	20						.						65.0	59.0	61.0					20																	34053899		2203	4300	6503	33517313	SO:0001583	missense	11190	exon7			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.362G>A	20.37:g.34053899G>A	ENSP00000380661:p.Arg121Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33517313	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694253	0.48202	.	.	ENSG00000126001	ENST00000446710;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.63255	1.57;1.63;-0.03;0.71	5.54	2.5	0.30297	.	0.515968	0.16333	N	0.219044	T	0.48607	0.1509	L	0.41027	1.25	0.36482	D	0.86792	B	0.27166	0.17	B	0.21360	0.034	T	0.48854	-0.8998	10	0.30854	T	0.27	.	9.6652	0.39981	0.2244:0.0:0.7756:0.0	.	121	Q9BV73	CP250_HUMAN	Q	121	ENSP00000380661:R121Q;ENSP00000341541:R121Q;ENSP00000380658:R121Q;ENSP00000413827:R121Q	ENSP00000341541:R121Q	R	+	2	0	CEP250	33517313	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.226000	0.51254	0.695000	0.31675	-0.150000	0.13652	CGA		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CEP250	11190	broad.mit.edu	37	20	34084470	34084470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34084470C>T	ENST00000397527.1	+	25	3952	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1022*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1078	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R1078*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGACTCTATTCGACAACAAGA	0.517																																					p.R1078X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3232T	20						.						73.0	68.0	70.0					20																	34084470		2203	4300	6503	33547884	SO:0001587	stop_gained	11190	exon25			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3232C>T	20.37:g.34084470C>T	ENSP00000380661:p.Arg1078*	Somatic		Capture	Illumina HiSeq	Phase_I	33547884	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	44	10.742726	0.99460	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	5.03	2.97	0.34412	.	0.885580	0.09547	N	0.787410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	9.586	0.39517	0.1579:0.6896:0.1525:0.0	.	.	.	.	X	1078;1022	.	ENSP00000341541:R1022X	R	+	1	2	CEP250	33547884	0.002000	0.14202	0.853000	0.33588	0.901000	0.52897	1.261000	0.32980	1.326000	0.45319	0.650000	0.86243	CGA		0.517	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CEP250	11190	broad.mit.edu	37	20	34090318	34090318	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34090318C>A	ENST00000397527.1	+	30	4841	c.4121C>A	c.(4120-4122)gCt>gAt	p.A1374D	CEP250_ENST00000342580.4_Missense_Mutation_p.A1318D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1374	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.A1374D(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAAGTGCTGCTGGCATCCTG	0.567																																					p.A1374D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4121A	20						.						39.0	40.0	40.0					20																	34090318		2203	4300	6503	33553732	SO:0001583	missense	11190	exon30			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4121C>A	20.37:g.34090318C>A	ENSP00000380661:p.Ala1374Asp	Somatic		Capture	Illumina HiSeq	Phase_I	33553732	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487850	0.44249	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.11385	2.81;2.78	4.19	0.964	0.19655	.	0.667583	0.13601	N	0.375840	T	0.14787	0.0357	M	0.65975	2.015	0.09310	N	1	P	0.46912	0.886	P	0.48270	0.572	T	0.11299	-1.0593	10	0.36615	T	0.2	.	4.8209	0.13390	0.0:0.51:0.1603:0.3297	.	1374	Q9BV73	CP250_HUMAN	D	1374;1318	ENSP00000380661:A1374D;ENSP00000341541:A1318D	ENSP00000341541:A1318D	A	+	2	0	CEP250	33553732	0.000000	0.05858	0.004000	0.12327	0.769000	0.43574	0.510000	0.22723	0.536000	0.28733	0.561000	0.74099	GCT		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CEP250	11190	broad.mit.edu	37	20	34091528	34091528	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34091528G>T	ENST00000397527.1	+	30	6051	c.5331G>T	c.(5329-5331)gaG>gaT	p.E1777D	CEP250_ENST00000342580.4_Missense_Mutation_p.E1721D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1777	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E1777D(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCAGCGAGAGCAGGAAATAG	0.577																																					p.E1777D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5331T	20						.						63.0	66.0	65.0					20																	34091528		2203	4300	6503	33554942	SO:0001583	missense	11190	exon30			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5331G>T	20.37:g.34091528G>T	ENSP00000380661:p.Glu1777Asp	Somatic		Capture	Illumina HiSeq	Phase_I	33554942	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	4.380	0.070141	0.08436	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.41065	2.99;2.99;1.01	4.81	0.308	0.15815	.	0.097389	0.45126	D	0.000384	T	0.28599	0.0708	L	0.59912	1.85	0.28412	N	0.91812	B	0.24576	0.106	B	0.28139	0.086	T	0.24621	-1.0155	10	0.06625	T	0.88	.	3.8819	0.09082	0.3774:0.0:0.3978:0.2248	.	1777	Q9BV73	CP250_HUMAN	D	1777;1721;265	ENSP00000380661:E1777D;ENSP00000341541:E1721D;ENSP00000395992:E265D	ENSP00000341541:E1721D	E	+	3	2	CEP250	33554942	0.989000	0.36119	0.997000	0.53966	0.280000	0.26924	0.174000	0.16743	0.253000	0.21552	0.563000	0.77884	GAG		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CPNE1	8904	broad.mit.edu	37	20	34215203	34215203	+	Splice_Site	SNP	G	G	A	rs147762472		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34215203G>A	ENST00000317619.3	-	16	1629	c.1235C>T	c.(1234-1236)tCg>tTg	p.S412L	CPNE1_ENST00000317677.5_Splice_Site_p.S417L|CPNE1_ENST00000397442.1_Splice_Site_p.S412L|CPNE1_ENST00000397443.1_Splice_Site_p.S412L|CPNE1_ENST00000352393.4_Splice_Site_p.S412L|CPNE1_ENST00000397446.1_Splice_Site_p.S412L|CPNE1_ENST00000397445.1_Splice_Site_p.S412L			Q99829	CPNE1_HUMAN	copine I	412	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S412L(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GACTCTCACCGAGGCAGTCCC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.0				p.S412L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1235T	20						.	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	74.0	68.0	70.0		1235,1250,1235,1235,1235,1235	5.1	1.0	20	dbSNP_134	70	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	CPNE1	NM_001198863.1,NM_003915.5,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	145,145,145,145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	412/537,417/543,412/538,412/538,412/538,412/538	34215203	1,13005	2203	4300	6503	33678617	SO:0001630	splice_region_variant	8904	exon15			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1236+1C>T	20.37:g.34215203G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33678617	NM_152927	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	33|33	5.281661|5.281661	0.95489|0.95489	2.27E-4|2.27E-4	0.0|0.0	ENSG00000214078|ENSG00000214078	ENST00000415920|ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	.|T;T;T;T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.98	5.06|5.06	5.06|5.06	0.68205|0.68205	.|von Willebrand factor, type A (1);Copine (1);	.|0.153075	.|0.45126	.|U	.|0.000392	T|T	0.45955|0.45955	0.1368|0.1368	M|M	0.63208|0.63208	1.945|1.945	0.53688|0.53688	D|D	0.999978|0.999978	.|D;D;B;D;D	.|0.65815	.|0.986;0.995;0.057;0.991;0.991	.|P;P;B;P;P	.|0.59703	.|0.781;0.862;0.066;0.747;0.764	T|T	0.43734|0.43734	-0.9373|-0.9373	5|10	.|0.87932	.|D	.|0	-2.4332|-2.4332	17.3695|17.3695	0.87372|0.87372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|417;412;412;392;412	.|B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.|.;.;CPNE1_HUMAN;.;.	C|L	51|412;417;412;412;412;412;412;412	.|ENSP00000336945:S412L;ENSP00000317257:S417L;ENSP00000326126:S412L;ENSP00000380588:S412L;ENSP00000380587:S412L;ENSP00000380585:S412L;ENSP00000380584:S412L;ENSP00000415597:S412L	.|ENSP00000326126:S412L	R|S	-|-	1|2	0|0	CPNE1|CPNE1	33678617|33678617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	8.955000|8.955000	0.93058|0.93058	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	CGC|TCG		0.522	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	Missense_Mutation
CPNE1	8904	broad.mit.edu	37	20	34215288	34215288	+	Missense_Mutation	SNP	G	G	A	rs201918169	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34215288G>A	ENST00000317619.3	-	16	1544	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	CPNE1_ENST00000317677.5_Missense_Mutation_p.R389C|CPNE1_ENST00000397442.1_Missense_Mutation_p.R384C|CPNE1_ENST00000397443.1_Missense_Mutation_p.R384C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R384C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R384C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R384C			Q99829	CPNE1_HUMAN	copine I	384	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R384C(2)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCATAGAGGCGAACTTGGGGC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		17443	0.002		0.0	False		,,,				2504	0.0				p.R384C												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1150T	20						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	103.0	107.0		1150,1165,1150,1150,1150,1150	5.1	1.0	20		107	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	CPNE1	NM_001198863.1,NM_003915.5,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	180,180,180,180,180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	384/537,389/543,384/538,384/538,384/538,384/538	34215288	3,13003	2203	4300	6503	33678702	SO:0001583	missense	8904	exon15			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1150C>T	20.37:g.34215288G>A	ENSP00000326126:p.Arg384Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33678702	NM_152927	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975568	0.74360	2.27E-4	2.33E-4	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570	T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.06	5.06	0.68205	von Willebrand factor, type A (1);Copine (1);	0.073163	0.51477	U	0.000089	T	0.59376	0.2189	M	0.89658	3.05	0.53688	D	0.999978	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.74674	0.973;0.977;0.892;0.977;0.984	T	0.68469	-0.5400	10	0.87932	D	0	-1.3208	17.3695	0.87372	0.0:0.0:1.0:0.0	.	389;384;384;364;384	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	C	384;389;384;384;384;384;384;384;360	ENSP00000336945:R384C;ENSP00000317257:R389C;ENSP00000326126:R384C;ENSP00000380588:R384C;ENSP00000380587:R384C;ENSP00000380585:R384C;ENSP00000380584:R384C;ENSP00000415597:R384C;ENSP00000390626:R360C	ENSP00000326126:R384C	R	-	1	0	CPNE1	33678702	0.857000	0.29778	1.000000	0.80357	0.956000	0.61745	3.256000	0.51492	2.627000	0.88993	0.563000	0.77884	CGC		0.577	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	
RBM39	9584	broad.mit.edu	37	20	34320040	34320040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34320040C>T	ENST00000253363.6	-	4	142	c.119G>A	c.(118-120)aGc>aAc	p.S40N	RBM39_ENST00000361162.6_Missense_Mutation_p.S40N|RBM39_ENST00000528062.3_Missense_Mutation_p.S40N|RBM39_ENST00000407261.4_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39	40					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S40N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACGACTTCTGCTCTTGCTTTT	0.398																																					p.S40N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	20						.						137.0	125.0	129.0					20																	34320040		2203	4300	6503	33783454	SO:0001583	missense	9584	exon4			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.119G>A	20.37:g.34320040C>T	ENSP00000253363:p.Ser40Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33783454	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.88|17.88	3.497189|3.497189	0.64186|0.64186	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.51817	.|0.91;0.91;0.69;3.43;0.69;0.91	5.9|5.9	4.94|4.94	0.65067|0.65067	.|.	.|0.110600	.|0.85682	.|D	.|0.000000	T|T	0.49729|0.49729	0.1574|0.1574	M|M	0.79343|0.79343	2.45|2.45	0.80722|0.80722	D|D	1|1	.|B;B;P;B;B	.|0.36535	.|0.421;0.421;0.557;0.421;0.281	.|B;B;B;B;B	.|0.30495	.|0.054;0.054;0.116;0.054;0.025	T|T	0.55598|0.55598	-0.8116|-0.8116	5|10	.|0.48119	.|T	.|0.1	.|.	17.0068|17.0068	0.86395|0.86395	0.0:0.8727:0.1273:0.0|0.0:0.8727:0.1273:0.0	.|.	.|40;40;40;40;16	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	T|N	28|40	.|ENSP00000253363:S40N;ENSP00000354437:S40N;ENSP00000436747:S40N;ENSP00000363150:S40N;ENSP00000406801:S40N;ENSP00000393493:S40N	.|ENSP00000253363:S40N	A|S	-|-	1|2	0|0	RBM39|RBM39	33783454|33783454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.296000|7.296000	0.78790|0.78790	1.456000|1.456000	0.47831|0.47831	0.651000|0.651000	0.88453|0.88453	GCA|AGC		0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
CNBD2	140894	broad.mit.edu	37	20	34611607	34611607	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:34611607G>A	ENST00000373973.3	+	11	1526	c.1353G>A	c.(1351-1353)cgG>cgA	p.R451R	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Silent_p.R447R			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	451								p.R447R(1)									AGTTGATACGGATAAGGAAGG	0.443																																					p.R447R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	20						.						120.0	116.0	117.0					20																	34611607		2203	4300	6503	34075021	SO:0001819	synonymous_variant	140894	exon11			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1353G>A	20.37:g.34611607G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34075021	NM_080834	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37																																																																																					0.443	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
ATRN	8455	broad.mit.edu	37	20	3619484	3619484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3619484C>T	ENST00000262919.5	+	27	4020	c.3952C>T	c.(3952-3954)Cga>Tga	p.R1318*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1318					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R1318*(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCAACTTCTTCGAGAGATGCA	0.433																																					p.R1318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3952T	20						.						80.0	74.0	76.0					20																	3619484		2203	4300	6503	3567484	SO:0001587	stop_gained	8455	exon27			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3952C>T	20.37:g.3619484C>T	ENSP00000262919:p.Arg1318*	Somatic		Capture	Illumina HiSeq	Phase_I	3567484	NM_139321	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	43	10.055336	0.99326	.	.	ENSG00000088812	ENST00000262919	.	.	.	5.09	5.09	0.68999	.	0.130441	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-6.6239	16.0325	0.80588	0.0:1.0:0.0:0.0	.	.	.	.	X	1318	.	ENSP00000262919:R1318X	R	+	1	2	ATRN	3567484	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.499000	0.60380	2.638000	0.89438	0.650000	0.86243	CGA		0.433	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
MROH8	140699	broad.mit.edu	37	20	35776303	35776303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:35776303G>A	ENST00000400441.3	-	10	1083	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MROH8_ENST00000217333.8_Nonsense_Mutation_p.R242*|MROH8_ENST00000441008.2_Nonsense_Mutation_p.R348*			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	247								p.R362*(1)									CTTTGGAATCGCAGTGGAAGC	0.468																																					p.A327V												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C980T	20						.						51.0	52.0	52.0					20																	35776303		1922	4130	6052	35209717	SO:0001587	stop_gained	140699	exon8			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1084C>T	20.37:g.35776303G>A	ENSP00000383291:p.Arg362*	Somatic		Capture	Illumina HiSeq	Phase_I	35209717	NM_213632	Q5JYQ6	Nonsense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.739264|4.739264	0.89573|0.89573	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000441008;ENST00000400441;ENST00000217333	.|.	.|.	.|.	5.68|5.68	1.47|1.47	0.22746|0.22746	.|.	.|1.370820	.|0.04469	.|N	.|0.375763	T|.	0.16811|.	0.0404|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19289|.	-1.0310|.	3|.	.|0.09843	.|T	.|0.71	-1.8293|-1.8293	4.7306|4.7306	0.12962|0.12962	0.1622:0.0:0.5366:0.3011|0.1622:0.0:0.5366:0.3011	.|.	.|.	.|.	.|.	V|X	40;363|348;362;242	.|.	.|ENSP00000217333:R242X	A|R	-|-	2|1	0|2	C20orf132|C20orf132	35209717|35209717	0.156000|0.156000	0.22821|0.22821	0.076000|0.076000	0.20297|0.20297	0.919000|0.919000	0.55068|0.55068	0.594000|0.594000	0.24014|0.24014	0.051000|0.051000	0.15978|0.15978	-0.143000|-0.143000	0.13931|0.13931	GCG|CGA		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
TBC1D20	128637	broad.mit.edu	37	20	419812	419812	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:419812A>C	ENST00000354200.4	-	7	1043	c.896T>G	c.(895-897)tTt>tGt	p.F299C	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	299					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.F299C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAACTGAACAAAAAGGTCTCC	0.577																																					p.F299C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T896G	20						.						98.0	84.0	88.0					20																	419812		2203	4300	6503	367812	SO:0001583	missense	128637	exon7			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.896T>G	20.37:g.419812A>C	ENSP00000346139:p.Phe299Cys	Somatic		Capture	Illumina HiSeq	Phase_I	367812	NM_144628	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.764855	0.90020	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.23348	1.91	5.54	5.54	0.83059	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	P	0.57468	0.821	T	0.28106	-1.0054	10	0.59425	D	0.04	-13.8655	15.0164	0.71588	1.0:0.0:0.0:0.0	.	299	Q96BZ9	TBC20_HUMAN	C	299;324	ENSP00000346139:F299C	ENSP00000246077:F324C	F	-	2	0	TBC1D20	367812	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.669000	0.91163	2.326000	0.78906	0.533000	0.62120	TTT		0.577	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628	
RALGAPB	57148	broad.mit.edu	37	20	37163800	37163800	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37163800G>T	ENST00000262879.6	+	16	2613	c.2329G>T	c.(2329-2331)Gac>Tac	p.D777Y	RALGAPB_ENST00000397042.3_Missense_Mutation_p.D773Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D777Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D555Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	777					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.D777Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGCGCCAAGACATGAGCAT	0.502																																					p.D777Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2329T	20						.						174.0	169.0	171.0					20																	37163800		2203	4300	6503	36597214	SO:0001583	missense	57148	exon16			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2329G>T	20.37:g.37163800G>T	ENSP00000262879:p.Asp777Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36597214	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731238	0.89390	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.71934	-0.61;-0.61	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.63046	0.992;0.969;0.969;0.969	P;P;P;P	0.56960	0.81;0.81;0.81;0.81	T	0.79708	-0.1690	10	0.49607	T	0.09	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	605;777;773;777	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Y	777;773;777;555;777;605	ENSP00000262879:D777Y;ENSP00000380233:D777Y	ENSP00000262879:D777Y	D	+	1	0	RALGAPB	36597214	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	2.755000	0.94549	0.591000	0.81541	GAC		0.502	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
SLC32A1	140679	broad.mit.edu	37	20	37353442	37353442	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37353442C>T	ENST00000217420.1	+	1	338	c.75C>T	c.(73-75)agC>agT	p.S25S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	25					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.S25S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCAAGATGAGCGGCATGTTCG	0.652																																					p.S25S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	20						.						53.0	35.0	41.0					20																	37353442		2203	4300	6503	36786856	SO:0001819	synonymous_variant	140679	exon1			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.75C>T	20.37:g.37353442C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36786856	NM_080552	Q8N489	Silent	SNP	ENST00000217420.1	37	CCDS13307.1																																																																																				0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
PPP1R16B	26051	broad.mit.edu	37	20	37531333	37531333	+	Silent	SNP	C	C	T	rs200868467		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37531333C>T	ENST00000299824.1	+	6	783	c.594C>T	c.(592-594)aaC>aaT	p.N198N	PPP1R16B_ENST00000373331.2_Silent_p.N198N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	198					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.N198N(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGAAAATCAACGAGATGCGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23299	0.0		0.0	False		,,,				2504	0.0				p.N198N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C594T	20						.						124.0	106.0	112.0					20																	37531333		2203	4300	6503	36964747	SO:0001819	synonymous_variant	26051	exon6			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.594C>T	20.37:g.37531333C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36964747	NM_001172735	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.685	0.494902	0.12702	.	.	ENSG00000101445	ENST00000438192	.	.	.	4.42	-8.41	0.00961	.	.	.	.	.	T	0.65471	0.2694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73020	-0.4114	4	.	.	.	.	18.74	0.91770	0.0:0.2111:0.0:0.7889	.	.	.	.	M	141	.	.	T	+	2	0	PPP1R16B	36964747	0.000000	0.05858	0.236000	0.24074	0.880000	0.50808	-2.046000	0.01409	-2.379000	0.00595	-2.048000	0.00412	ACG		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
PPP1R16B	26051	broad.mit.edu	37	20	37534659	37534659	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37534659C>T	ENST00000299824.1	+	7	933	c.744C>T	c.(742-744)ctC>ctT	p.L248L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	248					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L248L(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGAGCTCCTCCTGGACCATG	0.597																																					p.L248L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	20						.						104.0	92.0	96.0					20																	37534659		2203	4300	6503	36968073	SO:0001819	synonymous_variant	26051	exon7			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.744C>T	20.37:g.37534659C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36968073	NM_015568	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1																																																																																				0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
FAM83D	81610	broad.mit.edu	37	20	37580199	37580199	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37580199G>A	ENST00000217429.4	+	4	925	c.884G>A	c.(883-885)gGc>gAc	p.G295D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	265					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G295D(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGACGGATGGCAAATTAAAC	0.398																																					p.G295D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884A	20						.						96.0	90.0	92.0					20																	37580199		1903	4112	6015	37013613	SO:0001583	missense	81610	exon4			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.884G>A	20.37:g.37580199G>A	ENSP00000217429:p.Gly295Asp	Somatic		Capture	Illumina HiSeq	Phase_I	37013613	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922724	0.92319	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.13307	2.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01512	-1.1336	10	0.72032	D	0.01	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	265	Q9H4H8	FA83D_HUMAN	D	295;249	ENSP00000217429:G295D	ENSP00000217429:G295D	G	+	2	0	FAM83D	37013613	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.344000	0.97050	2.825000	0.97269	0.655000	0.94253	GGC		0.398	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
FAM83D	81610	broad.mit.edu	37	20	37580810	37580810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37580810G>A	ENST00000217429.4	+	4	1536	c.1495G>A	c.(1495-1497)Gta>Ata	p.V499I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	469					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V499I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAATGTCTGTATCGAGATC	0.483																																					p.V499I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1495A	20						.						106.0	103.0	104.0					20																	37580810		1968	4143	6111	37014224	SO:0001583	missense	81610	exon4			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1495G>A	20.37:g.37580810G>A	ENSP00000217429:p.Val499Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37014224	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	8.452	0.853384	0.17106	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12774	2.65	5.49	-1.55	0.08558	.	0.945796	0.08787	N	0.893746	T	0.10294	0.0252	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39781	-0.9597	10	0.25106	T	0.35	.	5.9136	0.19041	0.3488:0.4593:0.1919:0.0	.	469	Q9H4H8	FA83D_HUMAN	I	499;453	ENSP00000217429:V499I	ENSP00000217429:V499I	V	+	1	0	FAM83D	37014224	0.000000	0.05858	0.163000	0.22734	0.476000	0.33039	-0.041000	0.12084	0.077000	0.16863	-0.137000	0.14449	GTA		0.483	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
DHX35	60625	broad.mit.edu	37	20	37623522	37623522	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37623522A>G	ENST00000252011.3	+	8	674	c.641A>G	c.(640-642)gAc>gGc	p.D214G	DHX35_ENST00000373325.2_Splice_Site_p.D214G|DHX35_ENST00000373323.4_Splice_Site_p.D183G	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	214	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.D214G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGATGCAGACGTAAGAGCC	0.418																																					p.D183G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548G	20						.						159.0	147.0	151.0					20																	37623522		2203	4300	6503	37056936	SO:0001630	splice_region_variant	60625	exon7			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.642+1A>G	20.37:g.37623522A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37056936	NM_001190809	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124631	0.37533	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.86	5.86	0.93980	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.139574	0.64402	D	0.000004	T	0.10637	0.0260	L	0.28504	0.86	0.44295	D	0.997161	B;B	0.13594	0.0;0.008	B;B	0.15052	0.001;0.012	T	0.10200	-1.0640	10	0.38643	T	0.18	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	183;214	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	G	214;214;183;179	ENSP00000362422:D214G;ENSP00000252011:D214G;ENSP00000362420:D183G;ENSP00000414630:D179G	ENSP00000252011:D214G	D	+	2	0	DHX35	37056936	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.185000	0.77714	2.367000	0.80283	0.528000	0.53228	GAC		0.418	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Missense_Mutation
TOP1	7150	broad.mit.edu	37	20	39704866	39704866	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:39704866G>T	ENST00000361337.2	+	4	461	c.211G>T	c.(211-213)Gat>Tat	p.D71Y		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	71	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.D71Y(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	caaacacaaagatggaagctc	0.388			T	NUP98	AML*																																p.D71Y			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211T	20						.						133.0	124.0	127.0					20																	39704866		2203	4300	6503	39138280	SO:0001583	missense	7150	exon4				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.211G>T	20.37:g.39704866G>T	ENSP00000354522:p.Asp71Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39138280	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078933	0.55753	.	.	ENSG00000198900	ENST00000361337	T	0.25085	1.82	5.11	5.11	0.69529	.	0.141696	0.64402	D	0.000006	T	0.39200	0.1069	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.11324	-1.0592	10	0.87932	D	0	-16.47	14.2251	0.65853	0.0:0.0:1.0:0.0	.	71	P11387	TOP1_HUMAN	Y	71	ENSP00000354522:D71Y	ENSP00000354522:D71Y	D	+	1	0	TOP1	39138280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.177000	0.58276	2.826000	0.97356	0.655000	0.94253	GAT		0.388	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
LPIN3	64900	broad.mit.edu	37	20	39981290	39981290	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:39981290A>T	ENST00000373257.3	+	10	1499	c.1408A>T	c.(1408-1410)Aac>Tac	p.N470Y		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	470					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.N470Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCTCACCAAAAACCCCGGACT	0.552																																					p.N470Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1408T	20						.						164.0	180.0	175.0					20																	39981290		2203	4300	6503	39414704	SO:0001583	missense	64900	exon10			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1408A>T	20.37:g.39981290A>T	ENSP00000362354:p.Asn470Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39414704	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795150	0.50208	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.84442	-1.85	4.89	3.77	0.43336	.	0.112350	0.56097	D	0.000023	D	0.92103	0.7497	M	0.88775	2.98	0.54753	D	0.999987	D;D	0.89917	1.0;0.965	D;P	0.78314	0.991;0.643	D	0.92460	0.5977	9	.	.	.	-22.1703	9.6846	0.40091	0.9144:0.0:0.0856:0.0	.	471;470	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	Y	470;134	ENSP00000362354:N470Y	.	N	+	1	0	LPIN3	39414704	1.000000	0.71417	0.842000	0.33263	0.230000	0.25150	7.490000	0.81461	1.839000	0.53478	0.402000	0.26972	AAC		0.552	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
CHD6	84181	broad.mit.edu	37	20	40049807	40049807	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:40049807A>C	ENST00000373233.3	-	31	5645	c.5468T>G	c.(5467-5469)tTt>tGt	p.F1823C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1823					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.F1823C(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATATCTACAAACCCACTTTC	0.418																																					p.F1823C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5468G	20						.						123.0	136.0	131.0					20																	40049807		2203	4300	6503	39483221	SO:0001583	missense	84181	exon31			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5468T>G	20.37:g.40049807A>C	ENSP00000362330:p.Phe1823Cys	Somatic		Capture	Illumina HiSeq	Phase_I	39483221	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163905	0.38217	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	5.82	5.82	0.92795	.	0.237567	0.30649	N	0.009164	T	0.77164	0.4090	L	0.27053	0.805	0.80722	D	1	P	0.39624	0.681	B	0.43155	0.41	T	0.77736	-0.2476	10	0.66056	D	0.02	-6.4922	4.3929	0.11350	0.7193:0.0:0.1188:0.1618	.	1823	Q8TD26	CHD6_HUMAN	C	1823	ENSP00000362330:F1823C	ENSP00000362330:F1823C	F	-	2	0	CHD6	39483221	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	3.714000	0.54889	2.222000	0.72286	0.533000	0.62120	TTT		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PTPRT	11122	broad.mit.edu	37	20	40730782	40730782	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:40730782G>T	ENST00000373187.1	-	26	3695	c.3696C>A	c.(3694-3696)atC>atA	p.I1232I	PTPRT_ENST00000373193.3_Silent_p.I1235I|PTPRT_ENST00000373198.4_Silent_p.I1251I|PTPRT_ENST00000373190.1_Silent_p.I1231I|PTPRT_ENST00000373184.1_Silent_p.I1242I|PTPRT_ENST00000356100.2_Silent_p.I1241I|PTPRT_ENST00000373201.1_Silent_p.I1222I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1232	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.I1254I(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGCTGCGTTGATGTAATTGC	0.547																																					p.I1251I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3753A	20						.						78.0	78.0	78.0					20																	40730782		2122	4258	6380	40164196	SO:0001819	synonymous_variant	11122	exon27			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3696C>A	20.37:g.40730782G>T		Somatic		Capture	Illumina HiSeq	Phase_I	40164196	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
CSNK2A1	1457	broad.mit.edu	37	20	468211	468211	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:468211C>T	ENST00000217244.3	-	12	1208	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.R142Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.R278Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CCATCGCTTTCGAGAGTGTCT	0.507																																					p.R278Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	20						.						80.0	72.0	75.0					20																	468211		2203	4300	6503	416211	SO:0001583	missense	1457	exon11			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.833G>A	20.37:g.468211C>T	ENSP00000217244:p.Arg278Gln	Somatic		Capture	Illumina HiSeq	Phase_I	416211	NM_001895	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544667	0.96488	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64260	3.29;3.29;3.29;-0.09	5.24	5.24	0.73138	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	0.72614	0.3482	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.74893	-0.3509	10	0.87932	D	0	-6.7665	17.9724	0.89117	0.0:1.0:0.0:0.0	.	278	P68400	CSK21_HUMAN	Q	278;278;278;278;142	ENSP00000383086:R278Q;ENSP00000339247:R278Q;ENSP00000217244:R278Q;ENSP00000383076:R142Q	ENSP00000217244:R278Q	R	-	2	0	CSNK2A1	416211	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.601000	0.82783	2.713000	0.92767	0.585000	0.79938	CGA		0.507	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895	
SRSF6	6431	broad.mit.edu	37	20	42088857	42088857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:42088857G>A	ENST00000244020.3	+	4	672	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	189	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R189Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AGCCATAGGCGATCTTACTCT	0.413																																					p.R189Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	20						.						42.0	43.0	43.0					20																	42088857		2201	4300	6501	41522271	SO:0001583	missense	6431	exon4			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.566G>A	20.37:g.42088857G>A	ENSP00000244020:p.Arg189Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41522271	NM_006275	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669353	0.67814	.	.	ENSG00000124193	ENST00000244020	T	0.13420	2.59	5.98	5.98	0.97165	.	0.140439	0.49305	D	0.000149	T	0.42653	0.1212	M	0.83774	2.66	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.968	T	0.09552	-1.0669	10	0.36615	T	0.2	.	19.2235	0.93808	0.0:0.0:1.0:0.0	.	189;189	Q13247;A8K588	SRSF6_HUMAN;.	Q	189	ENSP00000244020:R189Q	ENSP00000244020:R189Q	R	+	2	0	SRSF6	41522271	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.756000	0.98918	2.838000	0.97847	0.591000	0.81541	CGA		0.413	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275	
MYBL2	4605	broad.mit.edu	37	20	42331372	42331372	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:42331372C>T	ENST00000217026.4	+	8	1321	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	MYBL2_ENST00000396863.4_Silent_p.V374V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	398					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V398V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCACTGAAGTCGGGGGCTCTG	0.637																																					p.V398V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1194T	20						.						70.0	66.0	67.0					20																	42331372		2203	4300	6503	41764786	SO:0001819	synonymous_variant	4605	exon8				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1194C>T	20.37:g.42331372C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41764786	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	CCDS13322.1																																																																																				0.637	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
GDAP1L1	78997	broad.mit.edu	37	20	42907807	42907807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:42907807C>T	ENST00000342560.5	+	6	1059	c.971C>T	c.(970-972)tCg>tTg	p.S324L	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.S132L	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	324	GST C-terminal.							p.S324L(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCTGCTGTCGGCCGTCATC	0.602																																					p.S324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971T	20						.						129.0	113.0	118.0					20																	42907807		2203	4300	6503	42341221	SO:0001583	missense	78997	exon6				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.971C>T	20.37:g.42907807C>T	ENSP00000341782:p.Ser324Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42341221	NM_024034	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830346	0.91036	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98280	-4.84;-4.84;-4.84	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.80764	0.968;0.994;0.992	D	0.99907	1.1183	10	0.87932	D	0	.	18.9618	0.92680	0.0:1.0:0.0:0.0	.	266;343;324	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	L	324;319;266;290;266;132	ENSP00000341782:S324L;ENSP00000392881:S266L;ENSP00000440498:S132L	ENSP00000341782:S324L	S	+	2	0	GDAP1L1	42341221	1.000000	0.71417	0.944000	0.38274	0.975000	0.68041	7.358000	0.79466	2.552000	0.86080	0.591000	0.81541	TCG		0.602	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034	
HNF4A	3172	broad.mit.edu	37	20	43048467	43048467	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:43048467C>T	ENST00000316099.4	+	7	932	c.843C>T	c.(841-843)atC>atT	p.I281I	HNF4A_ENST00000457232.1_Silent_p.I259I|HNF4A_ENST00000415691.2_Silent_p.I281I|HNF4A_ENST00000316673.4_Silent_p.I259I|HNF4A_ENST00000443598.2_Silent_p.I281I|HNF4A_ENST00000609795.1_Silent_p.I259I	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	281					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I281I(1)|p.I259I(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGCAGATCGATGACAATG	0.562																																					p.I259I	Colon(79;2 1269 8820 14841 52347)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C777T	20						.						175.0	130.0	145.0					20																	43048467		2203	4300	6503	42481881	SO:0001819	synonymous_variant	3172	exon7			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.843C>T	20.37:g.43048467C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42481881	NM_001030003	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	CCDS13330.1																																																																																				0.562	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
YWHAB	7529	broad.mit.edu	37	20	43530295	43530295	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:43530295G>A	ENST00000372839.3	+	3	395	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E41K	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	41					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.E41K(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				ACTCTCCAACGAAGAGAGAAA	0.527																																					p.E41K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121A	20						.						78.0	72.0	74.0					20																	43530295		2203	4300	6503	42963709	SO:0001583	missense	7529	exon2			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.121G>A	20.37:g.43530295G>A	ENSP00000361930:p.Glu41Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42963709	NM_139323	A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011492	0.93346	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.65	4.7	0.59300	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82739	-0.0308	10	0.87932	D	0	-15.678	15.1167	0.72407	0.0682:0.0:0.9318:0.0	.	41	P31946	1433B_HUMAN	K	41	ENSP00000300161:E41K;ENSP00000361930:E41K;ENSP00000394729:E41K;ENSP00000394558:E41K	ENSP00000300161:E41K	E	+	1	0	YWHAB	42963709	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.869000	0.99810	1.529000	0.49120	0.650000	0.86243	GAA		0.527	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404	
TOMM34	10953	broad.mit.edu	37	20	43571783	43571783	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:43571783C>A	ENST00000372813.3	-	7	1049	c.897G>T	c.(895-897)aaG>aaT	p.K299N	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	299					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.K299N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CCTGCCGCAACTTCTGTGCAG	0.512																																					p.K299N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G897T	20						.						113.0	110.0	111.0					20																	43571783		2203	4300	6503	43005197	SO:0001583	missense	10953	exon7			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.897G>T	20.37:g.43571783C>A	ENSP00000361900:p.Lys299Asn	Somatic		Capture	Illumina HiSeq	Phase_I	43005197	NM_006809	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176251	0.38413	.	.	ENSG00000025772	ENST00000372813	T	0.73575	-0.76	5.34	4.4	0.53042	Tetratricopeptide-like helical (1);	2.343010	0.01861	N	0.036638	T	0.67211	0.2869	L	0.38175	1.15	0.37736	D	0.925467	B	0.18461	0.028	B	0.15052	0.012	T	0.52953	-0.8506	10	0.28530	T	0.3	-12.645	6.8754	0.24143	0.0:0.7685:0.0:0.2315	.	299	Q15785	TOM34_HUMAN	N	299	ENSP00000361900:K299N	ENSP00000361900:K299N	K	-	3	2	TOMM34	43005197	0.945000	0.32115	0.997000	0.53966	0.998000	0.95712	0.823000	0.27366	1.477000	0.48234	0.655000	0.94253	AAG		0.512	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809	
SEMG2	6407	broad.mit.edu	37	20	43850551	43850551	+	Missense_Mutation	SNP	C	C	T	rs149777388		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:43850551C>T	ENST00000372769.3	+	2	368	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	93	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.A93V(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTACATAAGGCGACAAAATCA	0.363																																					p.A93V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	20						.	T	VAL/ALA	0,4406		0,0,2203	109.0	101.0	104.0		278	-2.5	0.0	20	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMG2	NM_003008.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	93/583	43850551	1,13005	2203	4300	6503	43283965	SO:0001583	missense	6407	exon2				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.278C>T	20.37:g.43850551C>T	ENSP00000361855:p.Ala93Val	Somatic		Capture	Illumina HiSeq	Phase_I	43283965	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	c	3.165	-0.171167	0.06421	0.0	1.16E-4	ENSG00000124157	ENST00000372769	T	0.06608	3.28	1.28	-2.55	0.06288	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B;B;B	0.24092	0.097;0.04;0.04	B;B;B	0.25405	0.06;0.028;0.028	T	0.39663	-0.9603	9	0.52906	T	0.07	.	4.2206	0.10556	0.0:0.2366:0.1872:0.5763	.	93;93;93	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	V	93	ENSP00000361855:A93V	ENSP00000361855:A93V	A	+	2	0	SEMG2	43283965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.039000	0.03550	-2.202000	0.00745	-0.993000	0.02533	GCG		0.363	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
RBPJL	11317	broad.mit.edu	37	20	43940232	43940232	+	Missense_Mutation	SNP	C	C	A	rs2743328		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:43940232C>A	ENST00000343694.3	+	4	333	c.261C>A	c.(259-261)ttC>ttA	p.F87L	RBPJL_ENST00000372743.1_Missense_Mutation_p.F87L|RBPJL_ENST00000372741.3_Missense_Mutation_p.F87L	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	87					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F87L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TCCGCAGGTTCTTCTGCCCCC	0.607											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C261A	20						.						88.0	65.0	73.0					20																	43940232		2203	4300	6503	43373646	SO:0001583	missense	11317	exon4			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.261C>A	20.37:g.43940232C>A	ENSP00000341243:p.Phe87Leu	Somatic	920	Capture	Illumina HiSeq	Phase_I	43373646	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551846	0.86127	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.87334	-2.24;-2.24;-2.24	5.11	5.11	0.69529	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.182125	0.48767	D	0.000164	D	0.85944	0.5815	M	0.83603	2.65	0.80722	D	1	P;B	0.35656	0.514;0.372	B;B	0.33521	0.165;0.165	D	0.86484	0.1793	10	0.87932	D	0	-30.6148	7.594	0.28037	0.0:0.8293:0.0:0.1707	.	87;87	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	L	87	ENSP00000361828:F87L;ENSP00000361826:F87L;ENSP00000341243:F87L	ENSP00000341243:F87L	F	+	3	2	RBPJL	43373646	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.512000	0.35812	2.659000	0.90383	0.561000	0.74099	TTC		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	
EPPIN	57119	broad.mit.edu	37	20	44166705	44166705	+	IGR	SNP	G	G	A	rs374760516		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44166705G>A	ENST00000354280.4	-	0	1987				EPPIN_ENST00000555685.1_Silent_p.C140C|WFDC6_ENST00000600168.1_Silent_p.C40C|EPPIN-WFDC6_ENST00000504988.1_Silent_p.C140C|WFDC6_ENST00000372670.3_Silent_p.C40C	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C40C(2)									CTTCCACTTCGCATTCCACTT	0.498																																					p.C40C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C120T	20						.						211.0	195.0	201.0					20																	44166705		2203	4300	6503	43600119	SO:0001628	intergenic_variant	140870	exon2			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44166705G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43600119	NM_080827	A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	CCDS13359.1																																																																																				0.498	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		
WFDC9	259240	broad.mit.edu	37	20	44236778	44236778	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44236778C>A	ENST00000326000.1	-	5	458	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	81						extracellular region (GO:0005576)		p.E81*(1)		breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TTAAGGGGCTCTCTAGAAGAG	0.423																																					p.E81X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G241T	20						.						168.0	171.0	170.0					20																	44236778		2203	4300	6503	43670192	SO:0001630	splice_region_variant	259240	exon5			AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"""WAP four-disulfide core domain containing"""	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.240-1G>T	20.37:g.44236778C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43670192	NM_147198	Q3MIX6|Q5TGZ8	Nonsense_Mutation	SNP	ENST00000326000.1	37	CCDS13362.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693489	0.48202	.	.	ENSG00000180205	ENST00000326000	.	.	.	3.78	3.78	0.43462	.	0.000000	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.7523	11.4632	0.50223	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000320532:E81X	E	-	1	0	WFDC9	43670192	0.899000	0.30636	0.573000	0.28510	0.063000	0.16089	2.912000	0.48782	2.413000	0.81919	0.585000	0.79938	GAG		0.423	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106945.1		Nonsense_Mutation
WFDC10A	140832	broad.mit.edu	37	20	44258495	44258495	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44258495C>T	ENST00000372643.3	+	1	331	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	15						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L15L(1)		large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TCTCTGTGTGCTGCTGCTGCA	0.582											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L15L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C43T	20						.						135.0	103.0	114.0					20																	44258495		2203	4300	6503	43691909	SO:0001819	synonymous_variant	140832	exon1			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.43C>T	20.37:g.44258495C>T		Somatic	922	Capture	Illumina HiSeq	Phase_I	43691909	NM_080753	A2RRE9|Q5TGZ7	Silent	SNP	ENST00000372643.3	37	CCDS13363.1																																																																																				0.582	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2		
ZSWIM3	140831	broad.mit.edu	37	20	44505457	44505457	+	Missense_Mutation	SNP	G	G	T	rs200339235		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44505457G>T	ENST00000255152.2	+	2	469	c.260G>T	c.(259-261)aGa>aTa	p.R87I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R81I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	87							zinc ion binding (GO:0008270)	p.R87I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TACAACGAGAGACTAGATAGA	0.473																																					p.R87I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260T	20						.						133.0	117.0	123.0					20																	44505457		2203	4300	6503	43938864	SO:0001583	missense	140831	exon2			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.260G>T	20.37:g.44505457G>T	ENSP00000255152:p.Arg87Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43938864	NM_080752	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739373	0.30774	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23754	1.92;1.89	5.36	1.97	0.26223	.	0.584549	0.17836	N	0.160380	T	0.11495	0.0280	N	0.14661	0.345	0.33580	D	0.59971	B;B	0.22346	0.068;0.028	B;B	0.19391	0.025;0.01	T	0.14035	-1.0487	10	0.51188	T	0.08	-2.336	0.54	0.00644	0.4343:0.2151:0.1421:0.2085	.	81;87	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	87;81	ENSP00000255152:R87I;ENSP00000406313:R81I	ENSP00000255152:R87I	R	+	2	0	ZSWIM3	43938864	0.824000	0.29247	0.922000	0.36590	0.838000	0.47535	1.187000	0.32090	0.220000	0.20860	0.561000	0.74099	AGA		0.473	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752	
ZSWIM1	90204	broad.mit.edu	37	20	44511729	44511729	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44511729C>A	ENST00000372523.1	+	2	593	c.498C>A	c.(496-498)gtC>gtA	p.V166V	ZSWIM1_ENST00000372520.1_Silent_p.V166V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	166						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V166V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGAGGTCCTTCTCTCAG	0.527																																					p.V166V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	20						.						95.0	89.0	91.0					20																	44511729		2203	4300	6503	43945136	SO:0001819	synonymous_variant	90204	exon2			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.498C>A	20.37:g.44511729C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43945136	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	ENST00000372523.1	37	CCDS13382.2																																																																																				0.527	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
SPATA25	128497	broad.mit.edu	37	20	44515190	44515190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44515190G>T	ENST00000372519.3	-	2	694	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	217					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S217Y(1)									GCCCCTTTTAGATCTCACTAG	0.582																																					p.S217Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650A	20						.						105.0	114.0	111.0					20																	44515190		2203	4300	6503	43948597	SO:0001583	missense	128497	exon2			AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.650C>A	20.37:g.44515190G>T	ENSP00000361597:p.Ser217Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43948597	NM_080608		Missense_Mutation	SNP	ENST00000372519.3	37	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641630	0.29157	.	.	ENSG00000149634	ENST00000372519	T	0.56444	0.46	5.41	5.41	0.78517	.	0.413845	0.20899	N	0.083675	T	0.48804	0.1520	L	0.32530	0.975	0.34325	D	0.687033	P	0.50528	0.936	P	0.48141	0.568	T	0.62812	-0.6775	10	0.72032	D	0.01	0.0037	11.6046	0.51024	0.0:0.0:0.8227:0.1773	.	217	Q9BR10	CT165_HUMAN	Y	217	ENSP00000361597:S217Y	ENSP00000361597:S217Y	S	-	2	0	C20orf165	43948597	0.945000	0.32115	0.854000	0.33618	0.065000	0.16274	1.556000	0.36288	2.826000	0.97356	0.561000	0.74099	TCT		0.582	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1		
CTSA	5476	broad.mit.edu	37	20	44520357	44520357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44520357C>A	ENST00000372459.2	+	1	343	c.150C>A	c.(148-150)taC>taA	p.Y50*	NEURL2_ENST00000372518.4_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Nonsense_Mutation_p.Y50*|CTSA_ENST00000354880.5_Nonsense_Mutation_p.Y68*|CTSA_ENST00000372484.3_Nonsense_Mutation_p.Y68*			P10619	PPGB_HUMAN	cathepsin A	50					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.Y68*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCGCCAGTACTCCGGCTACC	0.662																																					p.Y68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C204A	20						.						67.0	74.0	71.0					20																	44520357		2203	4300	6503	43953764	SO:0001587	stop_gained	5476	exon2			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.150C>A	20.37:g.44520357C>A	ENSP00000361537:p.Tyr50*	Somatic		Capture	Illumina HiSeq	Phase_I	43953764	NM_000308	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Nonsense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183378	0.94885	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	.	.	.	5.42	3.31	0.37934	.	0.222822	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1308	6.8618	0.24072	0.0:0.6991:0.1473:0.1536	.	.	.	.	X	68;68;50;50;50	.	ENSP00000191018:Y50X	Y	+	3	2	CTSA	43953764	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.034000	0.30204	2.529000	0.85273	0.561000	0.74099	TAC		0.662	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308	
PLTP	5360	broad.mit.edu	37	20	44538179	44538179	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44538179T>C	ENST00000477313.1	-	4	1055	c.461A>G	c.(460-462)cAc>cGc	p.H154R	PLTP_ENST00000542937.1_Missense_Mutation_p.H174R|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.H154R|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.H66R			P55058	PLTP_HUMAN	phospholipid transfer protein	154					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.H154R(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GAAGGCCGCGTGCATTCTGGA	0.607																																					p.H154R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461G	20						.						62.0	59.0	60.0					20																	44538179		2203	4300	6503	43971586	SO:0001583	missense	5360	exon5			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.461A>G	20.37:g.44538179T>C	ENSP00000417138:p.His154Arg	Somatic		Capture	Illumina HiSeq	Phase_I	43971586	NM_006227	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	T	7.902	0.734568	0.15574	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	4.97	4.97	0.65823	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.225905	0.45361	D	0.000371	T	0.04952	0.0133	N	0.19112	0.55	0.39173	D	0.96262	B;B;B;B	0.14438	0.003;0.005;0.005;0.01	B;B;B;B	0.15052	0.012;0.012;0.012;0.005	T	0.39461	-0.9613	10	0.12103	T	0.63	-8.5416	14.8176	0.70048	0.0:0.0:0.0:1.0	.	66;154;154;174	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	R	66;154;154;174	ENSP00000361497:H66R;ENSP00000361508:H154R;ENSP00000417138:H154R;ENSP00000440296:H174R	ENSP00000361497:H66R	H	-	2	0	PLTP	43971586	1.000000	0.71417	0.654000	0.29608	0.091000	0.18340	5.386000	0.66238	2.097000	0.63578	0.379000	0.24179	CAC		0.607	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	
SLC12A5	57468	broad.mit.edu	37	20	44665418	44665418	+	Silent	SNP	G	G	A	rs376632862		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44665418G>A	ENST00000454036.2	+	5	583	c.534G>A	c.(532-534)acG>acA	p.T178T	SLC12A5_ENST00000372315.1_Silent_p.T155T|SLC12A5_ENST00000243964.3_Silent_p.T155T|SLC12A5_ENST00000608944.1_Silent_p.T104T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	178					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.T155T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAATTGCAACGAATGGTGTTG	0.612																																					p.T155T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	20						.	G	,	1,4405	2.1+/-5.4	0,1,2202	153.0	114.0	128.0		534,465	2.7	1.0	20		128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC12A5	NM_001134771.1,NM_020708.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	178/1140,155/1117	44665418	1,13005	2203	4300	6503	44098825	SO:0001819	synonymous_variant	57468	exon5			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.534G>A	20.37:g.44665418G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44098825	NM_020708	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
SLC12A5	57468	broad.mit.edu	37	20	44680462	44680462	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44680462G>A	ENST00000454036.2	+	18	2448	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R777H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	800					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.R777H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTGGCCCCGCAACTGGCGC	0.612																																					p.R777H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2330A	20						.						59.0	61.0	60.0					20																	44680462		2203	4300	6503	44113869	SO:0001583	missense	57468	exon18			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2399G>A	20.37:g.44680462G>A	ENSP00000387694:p.Arg800His	Somatic		Capture	Illumina HiSeq	Phase_I	44113869	NM_020708	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255703	0.59321	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.81659	-1.52;-1.52	4.02	4.02	0.46733	.	0.188257	0.46758	D	0.000261	T	0.65954	0.2741	N	0.11341	0.13	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.12837	0.003;0.008	T	0.63791	-0.6557	10	0.44086	T	0.13	.	15.6704	0.77270	0.0:0.0:1.0:0.0	.	800;777	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	800;777	ENSP00000387694:R800H;ENSP00000243964:R777H	ENSP00000243964:R777H	R	+	2	0	SLC12A5	44113869	0.995000	0.38212	1.000000	0.80357	0.988000	0.76386	4.049000	0.57397	2.219000	0.72066	0.462000	0.41574	CGC		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
ELMO2	63916	broad.mit.edu	37	20	45002060	45002060	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:45002060G>A	ENST00000290246.6	-	16	1588	c.1394C>T	c.(1393-1395)gCa>gTa	p.A465V	ELMO2_ENST00000445496.2_Missense_Mutation_p.A282V|ELMO2_ENST00000372176.1_Missense_Mutation_p.A377V|ELMO2_ENST00000439931.2_Missense_Mutation_p.A477V|ELMO2_ENST00000396391.1_Missense_Mutation_p.A465V|ELMO2_ENST00000454865.2_Missense_Mutation_p.A197V|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000352077.2_Missense_Mutation_p.A463V	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	465	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.A465V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CTCTGCTGTTGCCCTCATCTC	0.547																																					p.A465V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1394T	20						.						155.0	118.0	131.0					20																	45002060		2203	4300	6503	44435467	SO:0001583	missense	63916	exon15			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1394C>T	20.37:g.45002060G>A	ENSP00000290246:p.Ala465Val	Somatic		Capture	Illumina HiSeq	Phase_I	44435467	NM_182764	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406459	0.96051	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.91	4.91	0.64330	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.998;0.998	D;D;D;D;D	0.79108	0.982;0.973;0.992;0.992;0.992	T	0.71649	-0.4529	10	0.87932	D	0	-13.7397	17.2857	0.87141	0.0:0.0:1.0:0.0	.	477;197;465;282;465	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	V	465;377;32;465;477;282;197;463;253	ENSP00000290246:A465V;ENSP00000361249:A377V;ENSP00000414329:A32V;ENSP00000379673:A465V;ENSP00000396519:A477V;ENSP00000409920:A282V;ENSP00000415641:A197V;ENSP00000326172:A463V;ENSP00000388962:A253V	ENSP00000290246:A465V	A	-	2	0	ELMO2	44435467	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	9.657000	0.98554	2.541000	0.85698	0.561000	0.74099	GCA		0.547	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086	
ZNF334	55713	broad.mit.edu	37	20	45130872	45130872	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:45130872C>A	ENST00000347606.4	-	5	1288	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF334_ENST00000457685.2_Missense_Mutation_p.R331I|ZNF334_ENST00000593880.1_Missense_Mutation_p.R392I	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	369					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)	p.R369I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTGTGAGTTCTTTGATGTAC	0.453																																					p.R369I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106T	20						.						180.0	181.0	180.0					20																	45130872		2203	4300	6503	44564279	SO:0001583	missense	55713	exon5			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1106G>T	20.37:g.45130872C>A	ENSP00000255129:p.Arg369Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44564279	NM_018102	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788206	0.70337	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.24908	1.83;1.83	3.3	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30386	0.0763	L	0.52266	1.64	0.47065	D	0.999307	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.51453	0.589;0.589;0.67	T	0.04481	-1.0948	9	0.62326	D	0.03	.	8.482	0.33049	0.0:0.8795:0.0:0.1205	.	331;369;392	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	I	331;369	ENSP00000402582:R331I;ENSP00000255129:R369I	ENSP00000255129:R369I	R	-	2	0	ZNF334	44564279	0.000000	0.05858	0.965000	0.40720	0.888000	0.51559	0.038000	0.13862	0.707000	0.31934	0.591000	0.81541	AGA		0.453	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	687					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507																																					p.K707N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2121T	20						.						201.0	183.0	189.0					20																	45874915		2203	4300	6503	45308322	SO:0001583	missense	23613	exon14			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2061G>T	20.37:g.45874915C>A	ENSP00000312237:p.Lys687Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45308322	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
PREX1	57580	broad.mit.edu	37	20	47267558	47267558	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47267558G>A	ENST00000371941.3	-	23	2713	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	PREX1_ENST00000396220.1_Silent_p.F897F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	897					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F897F(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTTCTCCACGAAGACGCTGT	0.557																																					p.F897F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2691T	20						.						70.0	60.0	63.0					20																	47267558		2203	4300	6503	46700965	SO:0001819	synonymous_variant	57580	exon23			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2691C>T	20.37:g.47267558G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46700965	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47274723	47274723	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47274723T>G	ENST00000371941.3	-	17	1947	c.1925A>C	c.(1924-1926)aAg>aCg	p.K642T	PREX1_ENST00000396220.1_Missense_Mutation_p.K642T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	642	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K642T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCCTTGTTCTTCTCCTCGAT	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K642T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1925C	20						.						305.0	274.0	285.0					20																	47274723		2203	4300	6503	46708130	SO:0001583	missense	57580	exon17			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1925A>C	20.37:g.47274723T>G	ENSP00000361009:p.Lys642Thr	Somatic	945	Capture	Illumina HiSeq	Phase_I	46708130	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725478	0.68959	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.16597	2.33;2.33	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.243845	0.27856	U	0.017578	T	0.14098	0.0341	L	0.27053	0.805	0.58432	D	0.999999	P	0.42039	0.769	B	0.38225	0.268	T	0.03221	-1.1059	10	0.87932	D	0	.	14.6927	0.69098	0.0:0.0:0.0:1.0	.	642	Q8TCU6	PREX1_HUMAN	T	642	ENSP00000361009:K642T;ENSP00000379522:K642T	ENSP00000361009:K642T	K	-	2	0	PREX1	46708130	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.645000	0.61404	1.853000	0.53794	0.533000	0.62120	AAG		0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47317360	47317360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47317360G>A	ENST00000371941.3	-	7	870	c.848C>T	c.(847-849)gCg>gTg	p.A283V	PREX1_ENST00000396220.1_Missense_Mutation_p.A283V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	283	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A283V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATGTTGCCCGCAGAGATCTT	0.547																																					p.A283V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C848T	20						.						208.0	200.0	202.0					20																	47317360		2203	4300	6503	46750767	SO:0001583	missense	57580	exon7			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.848C>T	20.37:g.47317360G>A	ENSP00000361009:p.Ala283Val	Somatic		Capture	Illumina HiSeq	Phase_I	46750767	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480477	0.84747	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.87571	-2.27;-2.27	5.11	5.11	0.69529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	U	0.000049	D	0.92113	0.7500	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92191	0.5759	10	0.54805	T	0.06	.	18.9024	0.92448	0.0:0.0:1.0:0.0	.	283	Q8TCU6	PREX1_HUMAN	V	283	ENSP00000361009:A283V;ENSP00000379522:A283V	ENSP00000361009:A283V	A	-	2	0	PREX1	46750767	1.000000	0.71417	0.205000	0.23548	0.556000	0.35491	9.800000	0.99124	2.526000	0.85167	0.455000	0.32223	GCG		0.547	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
CSE1L	1434	broad.mit.edu	37	20	47689137	47689137	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47689137A>C	ENST00000262982.2	+	10	1092	c.969A>C	c.(967-969)tcA>tcC	p.S323S	CSE1L_ENST00000396192.3_Silent_p.S267S|CSE1L_ENST00000542325.1_Silent_p.S106S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	323					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.S323S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTGGCTTCAGTTTGTGAGA	0.348																																					p.S323S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A969C	20						.						104.0	102.0	102.0					20																	47689137		2203	4300	6503	47122544	SO:0001819	synonymous_variant	1434	exon10			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.969A>C	20.37:g.47689137A>C		Somatic		Capture	Illumina HiSeq	Phase_I	47122544	NM_001316	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	CCDS13412.1																																																																																				0.348	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	
ZNFX1	57169	broad.mit.edu	37	20	47864845	47864845	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47864845T>C	ENST00000396105.1	-	14	4962	c.4716A>G	c.(4714-4716)caA>caG	p.Q1572Q	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.Q1572Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1572							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q1572Q(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGAATATTTGGGTGACCT	0.532																																					p.Q1572Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4716G	20						.						80.0	84.0	83.0					20																	47864845		2203	4300	6503	47298252	SO:0001819	synonymous_variant	57169	exon14			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4716A>G	20.37:g.47864845T>C		Somatic		Capture	Illumina HiSeq	Phase_I	47298252	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																				0.532	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47879982	47879982	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47879982A>C	ENST00000396105.1	-	6	2436	c.2190T>G	c.(2188-2190)caT>caG	p.H730Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.H730Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H730Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	730							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H730Q(2)|p.H534Q(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCTCCTTCATGAAGCTCTT	0.493																																					p.H730Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T2190G	20						.						110.0	77.0	88.0					20																	47879982		2203	4299	6502	47313389	SO:0001583	missense	57169	exon6			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2190T>G	20.37:g.47879982A>C	ENSP00000379412:p.His730Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47313389	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	a	7.975	0.749843	0.15778	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.83	-2.25	0.06888	.	0.231983	0.46442	N	0.000288	T	0.55577	0.1929	N	0.17474	0.49	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.46275	-0.9203	10	0.06625	T	0.88	-12.5079	7.3401	0.26632	0.3306:0.2463:0.4231:0.0	.	730	Q9P2E3	ZNFX1_HUMAN	Q	730;730;730;730;730;534	ENSP00000360819:H730Q;ENSP00000360817:H730Q;ENSP00000379412:H730Q;ENSP00000360809:H730Q;ENSP00000413800:H534Q	ENSP00000360809:H730Q	H	-	3	2	ZNFX1	47313389	0.000000	0.05858	0.757000	0.31301	0.988000	0.76386	-0.150000	0.10189	-0.332000	0.08489	-0.255000	0.11280	CAT		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47881340	47881340	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47881340G>T	ENST00000396105.1	-	5	2310	c.2064C>A	c.(2062-2064)atC>atA	p.I688I	ZNFX1_ENST00000371754.4_Silent_p.I688I|ZNFX1_ENST00000371752.1_Silent_p.I688I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	688							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I688I(4)|p.I492I(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGCTTCAGGATTTCACTGT	0.552																																					p.I688I												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C2064A	20						.						173.0	141.0	151.0					20																	47881340		2203	4300	6503	47314747	SO:0001819	synonymous_variant	57169	exon5			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2064C>A	20.37:g.47881340G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47314747	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																				0.552	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
KCNB1	3745	broad.mit.edu	37	20	47990385	47990385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47990385G>A	ENST00000371741.4	-	2	1878	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	571					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.P571L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGTGGGCAGAGGGGCTACGGG	0.512																																					p.P571L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1712T	20						.						92.0	82.0	85.0					20																	47990385		2203	4300	6503	47423792	SO:0001583	missense	3745	exon2			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1712C>T	20.37:g.47990385G>A	ENSP00000360806:p.Pro571Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47423792	NM_004975	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283704	0.40394	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.24908	1.83	6.07	4.94	0.65067	.	0.506283	0.21193	N	0.078602	T	0.38453	0.1041	L	0.56769	1.78	0.46749	D	0.999186	P	0.51653	0.947	P	0.51101	0.659	T	0.15694	-1.0428	10	0.87932	D	0	.	15.9855	0.80147	0.0754:0.0:0.9246:0.0	.	571	Q14721	KCNB1_HUMAN	L	571;526	ENSP00000360806:P571L	ENSP00000360806:P571L	P	-	2	0	KCNB1	47423792	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.571000	0.67404	2.884000	0.98904	0.655000	0.94253	CCT		0.512	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
PTGIS	5740	broad.mit.edu	37	20	48129637	48129637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48129637C>A	ENST00000244043.4	-	8	1215	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	396					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.E396*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GTGTAGATTTCTGGGTCTCTC	0.592																																					p.E396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1186T	20						.						72.0	75.0	74.0					20																	48129637		2203	4300	6503	47563044	SO:0001587	stop_gained	5740	exon8				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1186G>T	20.37:g.48129637C>A	ENSP00000244043:p.Glu396*	Somatic		Capture	Illumina HiSeq	Phase_I	47563044	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Nonsense_Mutation	SNP	ENST00000244043.4	37	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	37	6.084493	0.97267	.	.	ENSG00000124212	ENST00000244043	.	.	.	4.75	4.75	0.60458	.	0.118143	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.4876	16.5218	0.84319	0.0:1.0:0.0:0.0	.	.	.	.	X	396	.	ENSP00000244043:E396X	E	-	1	0	PTGIS	47563044	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	5.520000	0.67080	2.202000	0.70862	0.561000	0.74099	GAA		0.592	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48503378C>T	ENST00000361573.2	+	15	1623	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000539601.1_Silent_p.F308F|SLC9A8_ENST00000417961.1_Silent_p.F543F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627																																					p.F527F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	20						.						125.0	99.0	108.0					20																	48503378		2203	4300	6503	47936785	SO:0001819	synonymous_variant	23315	exon15			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1581C>T	20.37:g.48503378C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47936785	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																				0.627	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
SLC9A8	23315	broad.mit.edu	37	20	48504386	48504386	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48504386C>A	ENST00000361573.2	+	16	1701	c.1659C>A	c.(1657-1659)atC>atA	p.I553I	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.I253I|SLC9A8_ENST00000539601.1_Silent_p.I334I|SLC9A8_ENST00000417961.1_Silent_p.I569I			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	553					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.I553I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ACGGGCGCATCCAGATGAAAA	0.632																																					p.I553I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1659A	20						.						85.0	75.0	78.0					20																	48504386		2203	4300	6503	47937793	SO:0001819	synonymous_variant	23315	exon16			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1659C>A	20.37:g.48504386C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47937793	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																				0.632	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
SPATA2	9825	broad.mit.edu	37	20	48523324	48523324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48523324C>T	ENST00000422556.1	-	3	744	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	SPATA2_ENST00000543716.1_5'UTR|SPATA2_ENST00000289431.5_Missense_Mutation_p.R132Q	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	132					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R132Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CAGGATGGCTCGGATGTCCTC	0.517																																					p.R132Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	20						.						46.0	45.0	45.0					20																	48523324		2203	4300	6503	47956731	SO:0001583	missense	9825	exon3			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.395G>A	20.37:g.48523324C>T	ENSP00000416799:p.Arg132Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47956731	NM_006038	E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912708	0.52439	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.63417	-0.04;-0.04	5.61	2.65	0.31530	.	0.067861	0.56097	N	0.000023	T	0.50888	0.1642	M	0.66939	2.045	0.80722	D	1	P	0.43352	0.804	B	0.26614	0.071	T	0.51826	-0.8656	10	0.49607	T	0.09	-24.8449	11.174	0.48588	0.0:0.8081:0.0:0.1919	.	132	Q9UM82	SPAT2_HUMAN	Q	132	ENSP00000289431:R132Q;ENSP00000416799:R132Q	ENSP00000289431:R132Q	R	-	2	0	SPATA2	47956731	0.471000	0.25862	0.370000	0.25965	0.985000	0.73830	1.140000	0.31516	0.324000	0.23333	0.591000	0.81541	CGA		0.517	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038	
UBE2V1	7335	broad.mit.edu	37	20	48713259	48713259	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48713259C>T	ENST00000371674.3	-	2	165	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	UBE2V1_ENST00000371677.3_Missense_Mutation_p.E64K|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000371657.5_Missense_Mutation_p.E41K|UBE2V1_ENST00000340309.3_Missense_Mutation_p.E64K|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000420027.2_Intron|TMEM189_ENST00000557021.1_Missense_Mutation_p.E264K|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.E264K	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	41					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)	p.E64K(1)|p.E264K(1)		endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GTCATGTCTTCGTCATCTTCT	0.463																																					p.E64K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G190A	20						.						142.0	133.0	136.0					20																	48713259		2203	4298	6501	48146666	SO:0001583	missense	387522	exon2			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.121G>A	20.37:g.48713259C>T	ENSP00000360739:p.Glu41Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48146666	NM_021988	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327695	0.81690	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000371677;ENST00000557021	T;T;T;T;T;T	0.22539	1.95;2.63;1.95;1.95;1.95;1.95	5.86	5.86	0.93980	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.50627	U	0.000113	T	0.28400	0.0702	M	0.69248	2.105	0.46279	D	0.998966	D;B;B	0.61080	0.989;0.047;0.066	B;B;B	0.40009	0.316;0.075;0.087	T	0.09552	-1.0669	10	0.59425	D	0.04	-17.0748	20.5632	0.99335	0.0:1.0:0.0:0.0	.	264;64;41	G3V2F7;Q13404-7;Q13404	.;.;UB2V1_HUMAN	K	264;41;41;64;64;264	ENSP00000344166:E264K;ENSP00000360720:E41K;ENSP00000360739:E41K;ENSP00000340305:E64K;ENSP00000360742:E64K;ENSP00000450635:E264K	ENSP00000344166:E264K	E	-	1	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48146666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.900000	0.69853	2.937000	0.99478	0.650000	0.86243	GAA		0.463	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988	
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746170	48746170	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48746170C>T	ENST00000341698.2	-	4	390	c.391G>A	c.(391-393)Gac>Aac	p.D131N	TMEM189_ENST00000371656.2_Missense_Mutation_p.D56N|TMEM189_ENST00000371650.5_Missense_Mutation_p.D128N|TMEM189_ENST00000371652.4_Missense_Mutation_p.D131N|TMEM189_ENST00000557021.1_Missense_Mutation_p.D131N	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough									p.D131N(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TCGATGAAGTCGTGCCGTGTG	0.602																																					p.D131N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G391A	20						.						237.0	197.0	210.0					20																	48746170		2203	4300	6503	48179577	SO:0001583	missense	387522	exon4			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.391G>A	20.37:g.48746170C>T	ENSP00000344166:p.Asp131Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48179577	NM_199129		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539332	0.96474	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.58652	0.32;0.32;0.68;0.67	5.26	5.26	0.73747	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.81716	0.4881	M	0.91768	3.24	0.38429	D	0.946388	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.994	D	0.85975	0.1479	9	0.51188	T	0.08	-5.6823	18.8531	0.92240	0.0:1.0:0.0:0.0	.	56;128;131;131	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	N	131;131;128;56;131	ENSP00000344166:D131N;ENSP00000450635:D131N;ENSP00000360713:D128N;ENSP00000360715:D131N	ENSP00000360713:D128N	D	-	1	0	TMEM189-UBE2V1;TMEM189	48179577	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.374000	0.79633	2.450000	0.82876	0.491000	0.48974	GAC		0.602	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
ADNP	23394	broad.mit.edu	37	20	49508155	49508155	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:49508155G>T	ENST00000396029.3	-	5	3663	c.3096C>A	c.(3094-3096)tcC>tcA	p.S1032S	ADNP_ENST00000349014.3_Silent_p.S1032S|ADNP_ENST00000396032.3_Silent_p.S1032S|ADNP_ENST00000371602.4_Silent_p.S1032S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1032					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1032S(1)|p.Y1033fs*48(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTTTTCCATAGGAACTATTCT	0.458																																					p.S1032S												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(2)	c.C3096A	20						.						142.0	137.0	139.0					20																	49508155		2203	4300	6503	48941562	SO:0001819	synonymous_variant	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3096C>A	20.37:g.49508155G>T		Somatic		Capture	Illumina HiSeq	Phase_I	48941562	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																				0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
KCNG1	3755	broad.mit.edu	37	20	49626332	49626332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:49626332G>A	ENST00000371571.4	-	2	829	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	KCNG1_ENST00000396017.3_Missense_Mutation_p.R182W|KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	182					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R182W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTTCCTCCCGCTCCACCATC	0.711																																					p.R182W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	20						.						33.0	34.0	33.0					20																	49626332		2200	4293	6493	49059739	SO:0001583	missense	3755	exon2			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.544C>T	20.37:g.49626332G>A	ENSP00000360626:p.Arg182Trp	Somatic		Capture	Illumina HiSeq	Phase_I	49059739	NM_002237	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406250	0.62288	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216	D;D;D	0.98044	-4.68;-2.75;-3.33	4.27	2.21	0.28008	.	2.886870	0.00682	N	0.000680	D	0.98419	0.9474	M	0.81341	2.54	0.39635	D	0.97023	D;P	0.71674	0.998;0.936	P;P	0.57324	0.818;0.586	D	0.92152	0.5729	9	.	.	.	.	9.9873	0.41849	0.0:0.1331:0.5923:0.2746	.	182;182	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	W	182	ENSP00000360626:R182W;ENSP00000379338:R182W;ENSP00000394075:R182W	.	R	-	1	2	KCNG1	49059739	0.340000	0.24792	0.901000	0.35422	0.733000	0.41908	1.121000	0.31283	0.678000	0.31325	0.561000	0.74099	CGG		0.711	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
ATP9A	10079	broad.mit.edu	37	20	50310601	50310601	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:50310601C>T	ENST00000338821.5	-	7	852	c.588G>A	c.(586-588)acG>acA	p.T196T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	196					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T196T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTCCAGTCCGTCTCCCCAT	0.632																																					p.T196T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G588A	20						.						62.0	58.0	59.0					20																	50310601		2203	4300	6503	49744008	SO:0001819	synonymous_variant	10079	exon7			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.588G>A	20.37:g.50310601C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49744008	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																				0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
SALL4	57167	broad.mit.edu	37	20	50407689	50407689	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:50407689A>G	ENST00000217086.4	-	2	1444	c.1333T>C	c.(1333-1335)Ttc>Ctc	p.F445L	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	445					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F445L(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTCCTGGAACTCGGCAAAC	0.552																																					p.F445L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1333C	20						.						54.0	58.0	57.0					20																	50407689		2203	4300	6503	49841096	SO:0001583	missense	57167	exon2			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1333T>C	20.37:g.50407689A>G	ENSP00000217086:p.Phe445Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49841096	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738760	0.69304	.	.	ENSG00000101115	ENST00000217086	T	0.10005	2.92	5.12	2.39	0.29439	.	0.000000	0.46442	D	0.000286	T	0.05960	0.0155	L	0.44542	1.39	0.80722	D	1	B	0.29716	0.255	B	0.26614	0.071	T	0.29397	-1.0013	10	0.11794	T	0.64	-36.1205	0.0902	0.00039	0.3191:0.2421:0.2047:0.2341	.	445	Q9UJQ4	SALL4_HUMAN	L	445	ENSP00000217086:F445L	ENSP00000217086:F445L	F	-	1	0	SALL4	49841096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.612000	0.61169	1.931000	0.55961	0.528000	0.53228	TTC		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
PCNA	5111	broad.mit.edu	37	20	5099478	5099478	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5099478C>A	ENST00000379160.3	-	3	498	c.256G>T	c.(256-258)Gat>Tat	p.D86Y	SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Missense_Mutation_p.D86Y	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	86	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)	p.D86Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						GTAATGATATCTTCATTGCCG	0.453								DNA polymerases (catalytic subunits)																													p.D86Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256T	20						.						215.0	208.0	210.0					20																	5099478		2203	4300	6503	5047478	SO:0001583	missense	5111	exon3			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.256G>T	20.37:g.5099478C>A	ENSP00000368458:p.Asp86Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	5047478	NM_002592	B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783633	0.90282	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.81	4.81	0.61882	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.091788	0.64402	D	0.000001	D	0.86686	0.5992	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90542	0.4503	9	0.87932	D	0	-15.9455	16.6123	0.84886	0.0:1.0:0.0:0.0	.	86;86	B4DUA2;P12004	.;PCNA_HUMAN	Y	86	.	ENSP00000368438:D86Y	D	-	1	0	PCNA	5047478	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.322000	0.79097	2.471000	0.83476	0.563000	0.77884	GAT		0.453	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2		
CDS2	8760	broad.mit.edu	37	20	5166428	5166428	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5166428G>T	ENST00000460006.1	+	9	1091	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.G142C|CDS2_ENST00000535100.1_Missense_Mutation_p.G83C	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	262					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.G262C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GACCTGGGAAGGCTTCATTGG	0.493																																					p.G262C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784T	20						.						155.0	127.0	136.0					20																	5166428		2203	4300	6503	5114428	SO:0001583	missense	8760	exon9			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.784G>T	20.37:g.5166428G>T	ENSP00000419879:p.Gly262Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5114428	NM_003818	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696278	0.88830	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062;ENST00000535100	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.85	4.85	0.62838	.	0.046430	0.85682	D	0.000000	D	0.98251	0.9421	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99533	1.0961	10	0.87932	D	0	-4.7253	16.702	0.85351	0.0:0.0:1.0:0.0	.	83;142;262;262;262	F6VWC5;E7EQ83;B3KM95;O95674;B3KNK4	.;.;.;CDS2_HUMAN;.	C	262;207;142;83	ENSP00000419879:G262C;ENSP00000403205:G207C;ENSP00000368352:G142C;ENSP00000440555:G83C	ENSP00000368352:G142C	G	+	1	0	CDS2	5114428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.512000	0.84698	0.555000	0.69702	GGC		0.493	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2		
ZFP64	55734	broad.mit.edu	37	20	50782553	50782553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:50782553C>A	ENST00000216923.4	-	3	647	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Nonsense_Mutation_p.E98*|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Nonsense_Mutation_p.E100*|ZFP64_ENST00000361387.2_Nonsense_Mutation_p.E100*	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E100*(3)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAACAAATTCTGGAGCTGAA	0.408																																					p.E98X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G292T	20						.						100.0	94.0	96.0					20																	50782553		2203	4300	6503	50215960	SO:0001587	stop_gained	55734	exon3			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.298G>T	20.37:g.50782553C>A	ENSP00000216923:p.Glu100*	Somatic		Capture	Illumina HiSeq	Phase_I	50215960	NM_199426	Q9NTS7|Q9NVH4	Nonsense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	38	6.753786	0.97813	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.6257	18.1401	0.89637	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;100;98;100	.	ENSP00000216923:E100X	E	-	1	0	ZFP64	50215960	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.427000	0.66483	2.726000	0.93360	0.655000	0.94253	GAA		0.408	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
TSHZ2	128553	broad.mit.edu	37	20	51871782	51871782	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:51871782C>A	ENST00000371497.5	+	2	2672	c.1785C>A	c.(1783-1785)gcC>gcA	p.A595A	TSHZ2_ENST00000603338.2_Silent_p.A592A|TSHZ2_ENST00000329613.6_Silent_p.A592A|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	595					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A595A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACACCTGGCCCCTTACACTC	0.517																																					p.A592A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776A	20						.						106.0	104.0	105.0					20																	51871782		2203	4300	6503	51305189	SO:0001819	synonymous_variant	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1785C>A	20.37:g.51871782C>A		Somatic		Capture	Illumina HiSeq	Phase_I	51305189	NM_001193421	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	CCDS33490.1																																																																																				0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
ZNF217	7764	broad.mit.edu	37	20	52188339	52188339	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:52188339T>G	ENST00000371471.2	-	5	3516	c.3091A>C	c.(3091-3093)Aac>Cac	p.N1031H	ZNF217_ENST00000302342.3_Missense_Mutation_p.N1031H|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	1031					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N1031H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTCTCATAGTTTCTCTTTTGT	0.318																																					p.N1031H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3091C	20						.						190.0	181.0	184.0					20																	52188339		2202	4299	6501	51621746	SO:0001583	missense	7764	exon4			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3091A>C	20.37:g.52188339T>G	ENSP00000360526:p.Asn1031His	Somatic		Capture	Illumina HiSeq	Phase_I	51621746	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677858	0.47886	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09445	2.98;2.98	5.78	5.78	0.91487	.	0.263256	0.32785	N	0.005652	T	0.22475	0.0542	L	0.55481	1.735	0.25938	N	0.98291	D	0.54047	0.964	P	0.54499	0.754	T	0.04153	-1.0973	10	0.87932	D	0	-49.3163	14.3445	0.66651	0.0:0.0:0.0:1.0	.	1031	O75362	ZN217_HUMAN	H	1031	ENSP00000360526:N1031H;ENSP00000304308:N1031H	ENSP00000304308:N1031H	N	-	1	0	ZNF217	51621746	1.000000	0.71417	0.999000	0.59377	0.119000	0.20118	2.242000	0.43106	2.200000	0.70718	0.460000	0.39030	AAC		0.318	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
MC3R	4159	broad.mit.edu	37	20	54824224	54824224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:54824224G>A	ENST00000243911.2	+	1	437	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	109					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.E146K(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGACCTTCGAGGACCAGTT	0.572																																					p.E109K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325A	20						.						138.0	104.0	116.0					20																	54824224		2203	4300	6503	54257631	SO:0001583	missense	4159	exon1				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.325G>A	20.37:g.54824224G>A	ENSP00000243911:p.Glu109Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54257631	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418842	0.25552	.	.	ENSG00000124089	ENST00000243911	T	0.00545	6.67	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.452151	0.19008	U	0.125177	T	0.00524	0.0017	L	0.39147	1.195	0.20563	N	0.999882	P	0.43412	0.806	B	0.34931	0.192	T	0.59894	-0.7368	10	0.51188	T	0.08	.	12.3635	0.55217	0.0829:0.0:0.9171:0.0	.	146	P41968	MC3R_HUMAN	K	109	ENSP00000243911:E109K	ENSP00000243911:E109K	E	+	1	0	MC3R	54257631	0.995000	0.38212	0.935000	0.37517	0.740000	0.42216	3.805000	0.55575	2.287000	0.76781	0.650000	0.86243	GAG		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
GPCPD1	56261	broad.mit.edu	37	20	5566888	5566888	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5566888C>A	ENST00000379019.4	-	5	471	c.259G>T	c.(259-261)Gtt>Ttt	p.V87F	GPCPD1_ENST00000481038.1_5'Flank	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	87	CBM20. {ECO:0000255|PROSITE- ProRule:PRU00594}.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.V87F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CACTTGTGAACTATCACTTGA	0.363																																					p.V87F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259T	20						.						196.0	175.0	182.0					20																	5566888		2203	4300	6503	5514888	SO:0001583	missense	56261	exon5				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.259G>T	20.37:g.5566888C>A	ENSP00000368305:p.Val87Phe	Somatic		Capture	Illumina HiSeq	Phase_I	5514888	NM_019593	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291454	0.80914	.	.	ENSG00000125772	ENST00000379019	T	0.57273	0.41	5.99	5.99	0.97316	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (1);	0.118493	0.56097	D	0.000024	T	0.69205	0.3085	M	0.83118	2.625	0.58432	D	0.999999	D	0.63046	0.992	P	0.59056	0.851	T	0.73379	-0.4001	10	0.87932	D	0	-12.3599	10.8017	0.46493	0.0:0.8605:0.0:0.1395	.	87	Q9NPB8	GPCP1_HUMAN	F	87	ENSP00000368305:V87F	ENSP00000368305:V87F	V	-	1	0	GPCPD1	5514888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.608000	0.61141	2.857000	0.98124	0.650000	0.86243	GTT		0.363	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593	
CSTF1	1477	broad.mit.edu	37	20	54972702	54972702	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:54972702C>A	ENST00000217109.4	+	4	802	c.450C>A	c.(448-450)gtC>gtA	p.V150V	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	150					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V150V(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGGTCTAGGTCATGATGAATG	0.438																																					p.V150V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450A	20						.						101.0	98.0	99.0					20																	54972702		2203	4300	6503	54406109	SO:0001819	synonymous_variant	1477	exon4				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.450C>A	20.37:g.54972702C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54406109	NM_001033521	Q5QPD8	Silent	SNP	ENST00000217109.4	37	CCDS13452.1																																																																																				0.438	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521	
CTCFL	140690	broad.mit.edu	37	20	56090777	56090777	+	Silent	SNP	C	C	T	rs376178878		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:56090777C>T	ENST00000608263.1	-	5	1834	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	CTCFL_ENST00000422869.2_Silent_p.T391T|CTCFL_ENST00000429804.3_Silent_p.T391T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608440.1_Silent_p.T391T|CTCFL_ENST00000608903.1_Silent_p.T129T|CTCFL_ENST00000371196.2_Silent_p.T391T|CTCFL_ENST00000539382.1_Silent_p.T186T|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000609232.1_Silent_p.T391T|CTCFL_ENST00000243914.3_Silent_p.T391T|CTCFL_ENST00000608425.1_Silent_p.T391T|CTCFL_ENST00000433949.3_Silent_p.T186T|CTCFL_ENST00000502686.2_Silent_p.T129T|CTCFL_ENST00000423479.3_Silent_p.T391T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	391					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.T391T(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TACCTGAGTGCGTTCTCATGT	0.478																																					p.T391T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1173A	20						.	C		1,4405	2.1+/-5.4	0,1,2202	165.0	154.0	157.0		1173	-10.5	0.0	20		157	0,8600		0,0,4300	no	coding-synonymous	CTCFL	NM_080618.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		391/664	56090777	1,13005	2203	4300	6503	55524183	SO:0001819	synonymous_variant	140690	exon6				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1173G>A	20.37:g.56090777C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55524183	NM_080618	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.478	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
ZBP1	81030	broad.mit.edu	37	20	56190021	56190021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:56190021G>A	ENST00000371173.3	-	4	601	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ZBP1_ENST00000395822.3_Nonsense_Mutation_p.R67*|ZBP1_ENST00000340462.4_Nonsense_Mutation_p.R119*|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000343535.4_Nonsense_Mutation_p.R142*|ZBP1_ENST00000541799.1_Nonsense_Mutation_p.R142*	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	142					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.R142*(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TACAAGTCTCGGTTCACATCT	0.552																																					p.R142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C424T	20						.						260.0	208.0	226.0					20																	56190021		2203	4300	6503	55623427	SO:0001587	stop_gained	81030	exon4			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.424C>T	20.37:g.56190021G>A	ENSP00000360215:p.Arg142*	Somatic		Capture	Illumina HiSeq	Phase_I	55623427	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Nonsense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	36	5.918106	0.97105	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	.	.	.	3.39	3.39	0.38822	.	0.581521	0.14656	N	0.306269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-0.9846	10.5962	0.45338	0.0:0.0:1.0:0.0	.	.	.	.	X	142;67;119;142;142;142	.	ENSP00000344954:R119X	R	-	1	2	ZBP1	55623427	0.978000	0.34361	0.888000	0.34837	0.459000	0.32528	2.124000	0.42006	2.219000	0.72066	0.655000	0.94253	CGA		0.552	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
RAB22A	57403	broad.mit.edu	37	20	56928356	56928356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:56928356C>T	ENST00000244040.3	+	4	507	c.226C>T	c.(226-228)Cga>Tga	p.R76*		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	76					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R76*(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AATGTACTATCGAGGGTCGGC	0.343																																					p.R76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	20						.						108.0	109.0	109.0					20																	56928356		2203	4300	6503	56361762	SO:0001587	stop_gained	57403	exon4			AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.226C>T	20.37:g.56928356C>T	ENSP00000244040:p.Arg76*	Somatic		Capture	Illumina HiSeq	Phase_I	56361762	NM_020673	B3KR86|E1P605|Q8TF12|Q9H4E6	Nonsense_Mutation	SNP	ENST00000244040.3	37	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641954	0.97726	.	.	ENSG00000124209	ENST00000244040	.	.	.	5.54	4.58	0.56647	.	0.106321	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6553	13.5326	0.61631	0.2812:0.7188:0.0:0.0	.	.	.	.	X	76	.	ENSP00000244040:R76X	R	+	1	2	RAB22A	56361762	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	3.004000	0.49513	1.422000	0.47177	0.655000	0.94253	CGA		0.343	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2		
RAB22A	57403	broad.mit.edu	37	20	56928586	56928586	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:56928586C>T	ENST00000244040.3	+	5	650	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	123					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I123I(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			GTGATCTTATCGATGTAAGGT	0.328																																					p.I123I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	20						.						93.0	88.0	90.0					20																	56928586		2203	4300	6503	56361992	SO:0001819	synonymous_variant	57403	exon5			AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.369C>T	20.37:g.56928586C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56361992	NM_020673	B3KR86|E1P605|Q8TF12|Q9H4E6	Silent	SNP	ENST00000244040.3	37	CCDS33497.1																																																																																				0.328	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2		
APCDD1L	164284	broad.mit.edu	37	20	57036304	57036304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:57036304C>T	ENST00000371149.3	-	4	1278	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	APCDD1L_ENST00000439429.1_Missense_Mutation_p.E361K|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	350						integral component of membrane (GO:0016021)		p.E350K(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AACACCAGCTCGGTGCCGCCG	0.677																																					p.E350K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	20						.						32.0	33.0	33.0					20																	57036304		2203	4299	6502	56469710	SO:0001583	missense	164284	exon4			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1048G>A	20.37:g.57036304C>T	ENSP00000360191:p.Glu350Lys	Somatic		Capture	Illumina HiSeq	Phase_I	56469710	NM_153360		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631495	0.87660	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.23147	1.92;1.92	4.36	4.36	0.52297	.	0.177876	0.48286	D	0.000183	T	0.53302	0.1788	M	0.86420	2.815	0.49051	D	0.999749	D;D	0.71674	0.995;0.998	P;P	0.60236	0.749;0.871	T	0.65651	-0.6116	10	0.72032	D	0.01	-24.7913	16.9143	0.86147	0.0:1.0:0.0:0.0	.	361;350	F5H6V6;Q8NCL9	.;APCDL_HUMAN	K	350;361	ENSP00000360191:E350K;ENSP00000413261:E361K	ENSP00000360191:E350K	E	-	1	0	APCDD1L	56469710	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	7.056000	0.76662	1.997000	0.58415	0.563000	0.77884	GAG		0.677	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360	
ZNF831	128611	broad.mit.edu	37	20	57768921	57768921	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:57768921G>T	ENST00000371030.2	+	1	2847	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	949							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E949D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCAGGCAGAGACCCCCTTAC	0.602																																					p.E949D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2847T	20						.						87.0	88.0	88.0					20																	57768921		2008	4171	6179	57202316	SO:0001583	missense	128611	exon1			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2847G>T	20.37:g.57768921G>T	ENSP00000360069:p.Glu949Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57202316	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503225	0.12822	.	.	ENSG00000124203	ENST00000371030	T	0.05447	3.44	5.05	0.658	0.17855	.	0.373374	0.23266	N	0.050066	T	0.05090	0.0136	L	0.40543	1.245	0.09310	N	1	B	0.25521	0.128	B	0.23275	0.045	T	0.34354	-0.9832	10	0.39692	T	0.17	-13.948	6.368	0.21465	0.1576:0.2823:0.56:0.0	.	949	Q5JPB2	ZN831_HUMAN	D	949	ENSP00000360069:E949D	ENSP00000360069:E949D	E	+	3	2	ZNF831	57202316	.	.	0.041000	0.18516	0.485000	0.33311	.	.	-0.026000	0.13895	0.655000	0.94253	GAG		0.602	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	broad.mit.edu	37	20	57829023	57829023	+	Missense_Mutation	SNP	C	C	A	rs202236672	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:57829023C>A	ENST00000371030.2	+	5	4259	c.4259C>A	c.(4258-4260)tCt>tAt	p.S1420Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1420							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1420Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCAGGATTATCTCTGCAATCT	0.507																																					p.S1420Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4259A	20						.						83.0	87.0	86.0					20																	57829023		2025	4195	6220	57262418	SO:0001583	missense	128611	exon5			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4259C>A	20.37:g.57829023C>A	ENSP00000360069:p.Ser1420Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57262418	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153034	0.57259	.	.	ENSG00000124203	ENST00000371030	T	0.08370	3.1	5.47	5.47	0.80525	.	0.376176	0.23032	N	0.052726	T	0.21921	0.0528	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.02539	-1.1144	10	0.72032	D	0.01	-8.0967	14.8514	0.70300	0.0:1.0:0.0:0.0	.	1420	Q5JPB2	ZN831_HUMAN	Y	1420	ENSP00000360069:S1420Y	ENSP00000360069:S1420Y	S	+	2	0	ZNF831	57262418	0.005000	0.15991	0.009000	0.14445	0.003000	0.03518	1.995000	0.40767	2.571000	0.86741	0.650000	0.86243	TCT		0.507	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
PHACTR3	116154	broad.mit.edu	37	20	58342294	58342294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58342294C>T	ENST00000371015.1	+	5	1062	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P196S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P158S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P158S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P158S|PHACTR3_ENST00000395639.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	199						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.P199S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGCCTCCTGCCCACCACCAA	0.582																																					p.P196S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C586T	20						.						52.0	49.0	50.0					20																	58342294		2203	4300	6503	57775689	SO:0001583	missense	116154	exon5			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.595C>T	20.37:g.58342294C>T	ENSP00000360054:p.Pro199Ser	Somatic		Capture	Illumina HiSeq	Phase_I	57775689	NM_001199505	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	2.831	-0.242709	0.05906	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23348	1.92;1.91;1.91;1.91;1.91	4.5	2.16	0.27623	.	1.065930	0.07179	N	0.853692	T	0.15132	0.0365	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.32455	-0.9906	10	0.34782	T	0.22	-10.5866	1.6836	0.02837	0.175:0.4501:0.1728:0.2021	.	199;196	Q96KR7;B1AKX0	PHAR3_HUMAN;.	S	196;199;158;158;158	ENSP00000353002:P196S;ENSP00000360054:P199S;ENSP00000442483:P158S;ENSP00000347866:P158S;ENSP00000378998:P158S	ENSP00000347866:P158S	P	+	1	0	PHACTR3	57775689	0.001000	0.12720	0.081000	0.20488	0.288000	0.27193	-0.304000	0.08199	0.317000	0.23160	-0.488000	0.04728	CCC		0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
PHACTR3	116154	broad.mit.edu	37	20	58349360	58349360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58349360C>T	ENST00000371015.1	+	7	1456	c.989C>T	c.(988-990)aCg>aTg	p.T330M	PHACTR3_ENST00000361300.4_Missense_Mutation_p.T219M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T327M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T289M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T289M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T289M|PHACTR3_ENST00000395639.4_Missense_Mutation_p.T219M	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	330						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T330M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGTCGAGAACGTCCAGCGTG	0.532																																					p.T327M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C980T	20						.						78.0	78.0	78.0					20																	58349360		2203	4300	6503	57782755	SO:0001583	missense	116154	exon7			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.989C>T	20.37:g.58349360C>T	ENSP00000360054:p.Thr330Met	Somatic		Capture	Illumina HiSeq	Phase_I	57782755	NM_001199505	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422411	0.25639	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.86;1.85;1.48;1.87;1.87;1.87;1.48	5.06	5.06	0.68205	.	0.255793	0.45126	D	0.000388	T	0.51702	0.1690	M	0.65975	2.015	0.37706	D	0.92439	D;D;D	0.76494	0.999;0.981;0.989	D;P;P	0.66497	0.944;0.66;0.66	T	0.52837	-0.8522	10	0.26408	T	0.33	-10.3913	17.4155	0.87498	0.0:1.0:0.0:0.0	.	219;330;327	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	M	327;330;219;289;289;289;219	ENSP00000353002:T327M;ENSP00000360054:T330M;ENSP00000379001:T219M;ENSP00000442483:T289M;ENSP00000347866:T289M;ENSP00000378998:T289M;ENSP00000354555:T219M	ENSP00000347866:T289M	T	+	2	0	PHACTR3	57782755	0.995000	0.38212	0.019000	0.16419	0.076000	0.17211	5.051000	0.64257	2.335000	0.79485	0.655000	0.94253	ACG		0.532	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
SYCP2	10388	broad.mit.edu	37	20	58452511	58452511	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58452511C>A	ENST00000357552.3	-	33	3304	c.3079G>T	c.(3079-3081)Gat>Tat	p.D1027Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.D1027Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1027					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.D1027Y(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTGAGAGATCTTTATAGTTT	0.318																																					p.D1027Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3079T	20						.						57.0	60.0	59.0					20																	58452511		2201	4296	6497	57885906	SO:0001583	missense	10388	exon32			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3079G>T	20.37:g.58452511C>A	ENSP00000350162:p.Asp1027Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57885906	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062108	0.76187	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.26067	1.76;1.76	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	T	0.49881	0.1583	M	0.68952	2.095	0.47511	D	0.999446	D	0.89917	1.0	D	0.97110	1.0	T	0.49399	-0.8944	10	0.87932	D	0	-17.4267	15.0506	0.71865	0.0:1.0:0.0:0.0	.	1027	Q9BX26	SYCP2_HUMAN	Y	1027	ENSP00000360040:D1027Y;ENSP00000350162:D1027Y	ENSP00000350162:D1027Y	D	-	1	0	SYCP2	57885906	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.347000	0.59373	2.636000	0.89361	0.491000	0.48974	GAT		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
FAM217B	63939	broad.mit.edu	37	20	58519544	58519544	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58519544C>T	ENST00000358293.3	+	5	961	c.546C>T	c.(544-546)atC>atT	p.I182I	FAM217B_ENST00000360816.3_Silent_p.I182I|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	182								p.I182I(1)									GGAAGTATATCGATAGACTTA	0.547																																					p.I182I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	20						.						47.0	50.0	49.0					20																	58519544		2203	4300	6503	57952939	SO:0001819	synonymous_variant	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.546C>T	20.37:g.58519544C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57952939	NM_001190826	B3KWH1|Q9NTA3	Silent	SNP	ENST00000358293.3	37	CCDS13484.1																																																																																				0.547	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
CHGB	1114	broad.mit.edu	37	20	5897562	5897562	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5897562A>T	ENST00000378961.4	+	3	391	c.187A>T	c.(187-189)Acg>Tcg	p.T63S	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	63						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.T63S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGTCCTGAAGACGAGTAAGTG	0.542																																					p.T63S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187T	20						.						116.0	88.0	97.0					20																	5897562		2203	4300	6503	5845562	SO:0001583	missense	1114	exon3				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.187A>T	20.37:g.5897562A>T	ENSP00000368244:p.Thr63Ser	Somatic		Capture	Illumina HiSeq	Phase_I	5845562	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715295	0.68844	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01584	4.75;4.75	5.79	5.79	0.91817	.	0.359861	0.27572	N	0.018765	T	0.01489	0.0048	N	0.08118	0	0.29155	N	0.878121	B	0.06786	0.001	B	0.14023	0.01	T	0.46303	-0.9201	10	0.33141	T	0.24	-16.8672	15.105	0.72315	1.0:0.0:0.0:0.0	.	63	P05060	SCG1_HUMAN	S	63;43	ENSP00000368244:T63S;ENSP00000416643:T43S	ENSP00000368244:T63S	T	+	1	0	CHGB	5845562	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	3.426000	0.52778	2.208000	0.71279	0.533000	0.62120	ACG		0.542	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
CHGB	1114	broad.mit.edu	37	20	5904743	5904743	+	Silent	SNP	C	C	T	rs56291961	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5904743C>T	ENST00000378961.4	+	4	2157	c.1953C>T	c.(1951-1953)gaC>gaT	p.D651D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	651						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.D651D(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGACAGAGGACGAGGTATGGT	0.478													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20658	0.0		0.001	False		,,,				2504	0.001				p.D651D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1953T	20						.	C		4,4376		0,4,2186	16.0	14.0	15.0		1953	-3.8	1.0	20	dbSNP_129	15	10,8520		0,10,4255	no	coding-synonymous	CHGB	NM_001819.2		0,14,6441	TT,TC,CC		0.1172,0.0913,0.1084		651/678	5904743	14,12896	2190	4265	6455	5852743	SO:0001819	synonymous_variant	1114	exon4				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1953C>T	20.37:g.5904743C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5852743	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	CCDS13092.1																																																																																				0.478	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
C20orf197	284756	broad.mit.edu	37	20	58645833	58645833	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58645833G>A	ENST00000313426.1	+	4	557	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	84								p.G84E(1)		large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			AGAGAGCTGGGAAActcttgg	0.463																																					p.G84E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	20						.						89.0	83.0	85.0					20																	58645833		2203	4300	6503	58079228	SO:0001583	missense	284756	exon4			AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.251G>A	20.37:g.58645833G>A	ENSP00000316457:p.Gly84Glu	Somatic		Capture	Illumina HiSeq	Phase_I	58079228	NM_173644	Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829638	0.16749	.	.	ENSG00000176659	ENST00000313426	.	.	.	1.47	1.47	0.22746	.	.	.	.	.	T	0.34542	0.0901	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.12372	-1.0550	8	0.87932	D	0	.	6.3462	0.21351	0.0:0.0:1.0:0.0	.	84	Q8N268	CT197_HUMAN	E	84	.	ENSP00000316457:G84E	G	+	2	0	C20orf197	58079228	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	-0.217000	0.09253	1.103000	0.41568	0.313000	0.20887	GGA		0.463	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644	
CDH4	1002	broad.mit.edu	37	20	60498534	60498534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:60498534C>A	ENST00000360469.5	+	10	1488	c.1400C>A	c.(1399-1401)gCt>gAt	p.A467D	CDH4_ENST00000543233.1_Missense_Mutation_p.A393D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	467	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A467D(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCAACAGAGCTTTCATGCTG	0.602																																					p.A467D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1400A	20						.						108.0	95.0	99.0					20																	60498534		2203	4300	6503	59931929	SO:0001583	missense	1002	exon10			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1400C>A	20.37:g.60498534C>A	ENSP00000353656:p.Ala467Asp	Somatic		Capture	Illumina HiSeq	Phase_I	59931929	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504614	0.64410	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.50548	0.74;0.74	4.31	4.31	0.51392	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.64294	0.2585	L	0.58583	1.82	0.80722	D	1	D	0.61080	0.989	D	0.69824	0.966	T	0.64837	-0.6313	9	.	.	.	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	467	P55283	CADH4_HUMAN	D	467;375;393	ENSP00000353656:A467D;ENSP00000443301:A393D	.	A	+	2	0	CDH4	59931929	0.997000	0.39634	0.997000	0.53966	0.558000	0.35554	4.585000	0.60977	2.089000	0.63090	0.543000	0.68304	GCT		0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
DIDO1	11083	broad.mit.edu	37	20	61512998	61512998	+	Missense_Mutation	SNP	G	G	A	rs200199719		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:61512998G>A	ENST00000266070.4	-	16	4635	c.4310C>T	c.(4309-4311)gCg>gTg	p.A1437V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1437V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1437					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A1437V(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGTCACTTTCGCTTCTTCTAA	0.642																																					p.A1437V	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4310T	20						.						100.0	110.0	106.0					20																	61512998		2203	4298	6501	60983443	SO:0001583	missense	11083	exon16			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4310C>T	20.37:g.61512998G>A	ENSP00000266070:p.Ala1437Val	Somatic		Capture	Illumina HiSeq	Phase_I	60983443	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786997	0.49997	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.8	5.8	0.92144	.	0.000000	0.42821	D	0.000652	T	0.13329	0.0323	L	0.51422	1.61	0.80722	D	1	D	0.53619	0.961	P	0.44394	0.448	T	0.02743	-1.1116	10	0.29301	T	0.29	-34.2375	20.063	0.97692	0.0:0.0:1.0:0.0	.	1437	Q9BTC0	DIDO1_HUMAN	V	1437	ENSP00000266070:A1437V;ENSP00000378752:A1437V	ENSP00000266070:A1437V	A	-	2	0	DIDO1	60983443	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	5.876000	0.69667	2.735000	0.93741	0.655000	0.94253	GCG		0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
DIDO1	11083	broad.mit.edu	37	20	61522323	61522323	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:61522323A>C	ENST00000266070.4	-	15	3855	c.3530T>G	c.(3529-3531)tTt>tGt	p.F1177C	DIDO1_ENST00000395335.2_Missense_Mutation_p.F1177C|DIDO1_ENST00000395343.1_Missense_Mutation_p.F1177C|DIDO1_ENST00000395340.1_Missense_Mutation_p.F1177C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1177					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F1177C(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGTCCCTCAAAGGGCAAGAG	0.607																																					p.F1177C	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3530G	20						.						79.0	79.0	79.0					20																	61522323		2203	4300	6503	60992768	SO:0001583	missense	11083	exon15			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3530T>G	20.37:g.61522323A>C	ENSP00000266070:p.Phe1177Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60992768	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584323	0.86748	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.16457	2.77;2.77;2.34;2.34	5.24	5.24	0.73138	.	0.000000	0.44483	D	0.000457	T	0.45994	0.1370	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	T	0.52419	-0.8578	10	0.87932	D	0	-25.3714	15.4407	0.75181	1.0:0.0:0.0:0.0	.	1177;1177	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	C	1177	ENSP00000266070:F1177C;ENSP00000378752:F1177C;ENSP00000378749:F1177C;ENSP00000378744:F1177C	ENSP00000266070:F1177C	F	-	2	0	DIDO1	60992768	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.100000	0.94213	2.103000	0.63969	0.533000	0.62120	TTT		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
DIDO1	11083	broad.mit.edu	37	20	61522460	61522460	+	Silent	SNP	G	G	A	rs372179149		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:61522460G>A	ENST00000266070.4	-	15	3718	c.3393C>T	c.(3391-3393)gtC>gtT	p.V1131V	DIDO1_ENST00000395335.2_Silent_p.V1131V|DIDO1_ENST00000395343.1_Silent_p.V1131V|DIDO1_ENST00000395340.1_Silent_p.V1131V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1131					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V1131V(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGATATAGGCGACCTCCTCTT	0.522																																					p.V1131V	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3393T	20						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	90.0	91.0	91.0		3393,3393,3393,3393	-7.3	0.8	20		91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	1131/2241,1131/1190,1131/2241,1131/1190	61522460	1,13005	2203	4300	6503	60992905	SO:0001819	synonymous_variant	11083	exon15			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3393C>T	20.37:g.61522460G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60992905	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.522	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
DIDO1	11083	broad.mit.edu	37	20	61537415	61537415	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:61537415G>T	ENST00000266070.4	-	6	1737	c.1412C>A	c.(1411-1413)gCt>gAt	p.A471D	DIDO1_ENST00000395335.2_Missense_Mutation_p.A471D|DIDO1_ENST00000370371.4_Missense_Mutation_p.A471D|DIDO1_ENST00000370366.1_Missense_Mutation_p.A471D|DIDO1_ENST00000395343.1_Missense_Mutation_p.A471D|DIDO1_ENST00000266071.5_Missense_Mutation_p.A471D|DIDO1_ENST00000395340.1_Missense_Mutation_p.A471D|DIDO1_ENST00000370368.1_Missense_Mutation_p.A471D|DIDO1_ENST00000354665.4_Missense_Mutation_p.A471D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	471					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A471D(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTTTCTGGAGCTGGTCTCTT	0.468																																					p.A471D	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1412A	20						.						93.0	101.0	98.0					20																	61537415		2203	4300	6503	61007860	SO:0001583	missense	11083	exon6			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1412C>A	20.37:g.61537415G>T	ENSP00000266070:p.Ala471Asp	Somatic		Capture	Illumina HiSeq	Phase_I	61007860	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427512	0.62733	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19532	2.94;2.94;2.6;2.6;2.14;2.14;2.14;2.15;2.15	5.82	3.88	0.44766	.	0.000000	0.39687	U	0.001299	T	0.35770	0.0943	M	0.69823	2.125	0.27522	N	0.95135	P;P;D;D	0.67145	0.948;0.9;0.98;0.996	P;P;P;P	0.57548	0.549;0.471;0.663;0.823	T	0.16867	-1.0388	10	0.48119	T	0.1	-7.2402	8.9157	0.35581	0.299:0.0:0.701:0.0	.	471;471;471;471	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	471	ENSP00000266070:A471D;ENSP00000378752:A471D;ENSP00000378749:A471D;ENSP00000378744:A471D;ENSP00000359397:A471D;ENSP00000359394:A471D;ENSP00000346692:A471D;ENSP00000359391:A471D;ENSP00000266071:A471D	ENSP00000266070:A471D	A	-	2	0	DIDO1	61007860	0.940000	0.31905	0.947000	0.38551	0.994000	0.84299	1.725000	0.38074	0.810000	0.34279	0.561000	0.74099	GCT		0.468	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
DEFB127	140850	broad.mit.edu	37	20	139570	139570	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:139570C>T	ENST00000382388.3	+	2	280	c.205C>T	c.(205-207)Cca>Tca	p.P69S		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	69					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)		p.P69S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AATTACAAAGCCACCTCGTCC	0.393																																					p.P69S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	20						.						111.0	95.0	100.0					20																	139570		2203	4300	6503	87570	SO:0001583	missense	140850	exon2			AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.205C>T	20.37:g.139570C>T	ENSP00000371825:p.Pro69Ser	Somatic		Capture	Illumina HiSeq	Phase_I	87570	NM_139074	Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	CCDS12991.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.584027	0.00872	.	.	ENSG00000088782	ENST00000382388	T	0.15952	2.38	3.26	1.22	0.21188	.	0.720818	0.11428	N	0.565042	T	0.09730	0.0239	.	.	.	0.09310	N	1	B	0.18013	0.025	B	0.12156	0.007	T	0.39502	-0.9611	9	0.22109	T	0.4	-1.6769	7.2542	0.26166	0.0:0.7193:0.1708:0.1099	.	69	Q9H1M4	DB127_HUMAN	S	69	ENSP00000371825:P69S	ENSP00000371825:P69S	P	+	1	0	DEFB127	87570	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	0.058000	0.16222	-1.786000	0.00637	CCA		0.393	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074	
C20orf194	25943	broad.mit.edu	37	20	3311286	3311286	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:3311286G>T	ENST00000252032.9	-	12	1168				C20orf194_ENST00000453730.2_Intron	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194									p.?(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAAATATGAAGACTTACATTT	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						54.0	52.0	53.0					20																	3311286		1879	4121	6000	3259286	SO:0001627	intron_variant	25943	.			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1100+6C>A	20.37:g.3311286G>T		Somatic		Capture	Illumina HiSeq	Phase_I	3259286	.	Q66K86|Q6P2R9|Q9UFX9	Intron	SNP	ENST00000252032.9	37	CCDS42851.1																																																																																				0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
GPCPD1	56261	broad.mit.edu	37	20	5584998	5584998	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:5584998C>A	ENST00000379019.4	-	2	262					NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)						glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TAAAGTAAAACTTTTACAATA	0.303																																					.												.	.	0			.	20						.						36.0	39.0	38.0					20																	5584998		2202	4284	6486	5532998	SO:0001627	intron_variant	56261	.				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.49+11G>T	20.37:g.5584998C>A		Somatic		Capture	Illumina HiSeq	Phase_I	5532998	.	D3DW06|Q9BQL8|Q9NUX0	Intron	SNP	ENST00000379019.4	37	CCDS13090.1																																																																																				0.303	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593	
HAO1	54363	broad.mit.edu	37	20	7915205	7915205	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:7915205C>A	ENST00000378789.3	-	2	266	c.215G>T	c.(214-216)aGc>aTc	p.S72I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	72	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.S72I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TATTGGCATGCTGACCCTCTG	0.488																																					p.S72I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215T	20						.						94.0	83.0	87.0					20																	7915205		2203	4300	6503	7863205	SO:0001583	missense	54363	exon2			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.215G>T	20.37:g.7915205C>A	ENSP00000368066:p.Ser72Ile	Somatic		Capture	Illumina HiSeq	Phase_I	7863205	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748703	0.69533	.	.	ENSG00000101323	ENST00000378789	T	0.34275	1.37	5.96	4.02	0.46733	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.034030	0.85682	D	0.000000	T	0.70176	0.3194	H	0.96048	3.76	0.58432	D	0.999997	D;D	0.54601	0.967;0.967	D;D	0.63192	0.912;0.912	T	0.81588	-0.0864	10	0.87932	D	0	-1.4913	16.0892	0.81080	0.0:0.7635:0.2365:0.0	.	72;72	A8K058;Q9UJM8	.;HAOX1_HUMAN	I	72	ENSP00000368066:S72I	ENSP00000368066:S72I	S	-	2	0	HAO1	7863205	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.849000	0.55910	0.846000	0.35142	-0.913000	0.02753	AGC		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
TMX4	56255	broad.mit.edu	37	20	7963216	7963216	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:7963216C>T	ENST00000246024.2	-	8	947	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	244	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.A244A(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tttcctcctcCGCATCCTGCA	0.423																																					p.A244A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	20						.						87.0	69.0	75.0					20																	7963216		2203	4300	6503	7911216	SO:0001819	synonymous_variant	56255	exon8				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.732G>A	20.37:g.7963216C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7911216	NM_021156	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																				0.423	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156	
PLCB1	23236	broad.mit.edu	37	20	8709737	8709737	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:8709737A>G	ENST00000338037.6	+	18	1831	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.T602A|PLCB1_ENST00000378637.2_Missense_Mutation_p.T602A	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	602	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T602A(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCAAAAGGAACACGTGTGGA	0.363																																					p.T602A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1804G	20						.						142.0	122.0	129.0					20																	8709737		2203	4300	6503	8657737	SO:0001583	missense	23236	exon18			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1804A>G	20.37:g.8709737A>G	ENSP00000338185:p.Thr602Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8657737	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976176	0.74360	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.54866	0.55;0.55;0.55	5.83	5.83	0.93111	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.80508	2.5	0.80722	D	1	B;D	0.61080	0.181;0.989	B;D	0.75484	0.158;0.986	T	0.75161	-0.3415	10	0.44086	T	0.13	.	16.1982	0.82046	1.0:0.0:0.0:0.0	.	602;602	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	602;602;602;522;522	ENSP00000367908:T602A;ENSP00000338185:T602A;ENSP00000367904:T602A	ENSP00000338185:T602A	T	+	1	0	PLCB1	8657737	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	9.287000	0.95975	2.226000	0.72624	0.533000	0.62120	ACA		0.363	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
PLCB4	5332	broad.mit.edu	37	20	9416235	9416235	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:9416235G>T	ENST00000378493.1	+	25	2532	c.2517G>T	c.(2515-2517)aaG>aaT	p.K839N	PLCB4_ENST00000378473.3_Missense_Mutation_p.K851N|PLCB4_ENST00000378501.2_Missense_Mutation_p.K839N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.K839N|PLCB4_ENST00000334005.3_Missense_Mutation_p.K839N|PLCB4_ENST00000414679.2_Missense_Mutation_p.K851N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	839					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K839N(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATCCAAAGAAATTTCTCT	0.363																																					p.K839N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2517T	20						.						93.0	101.0	98.0					20																	9416235		2203	4300	6503	9364235	SO:0001583	missense	5332	exon25				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2517G>T	20.37:g.9416235G>T	ENSP00000367754:p.Lys839Asn	Somatic		Capture	Illumina HiSeq	Phase_I	9364235	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212094	0.58452	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.21361	2.19;2.2;2.19;2.19;2.19;2.01	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.19112	0.55	0.80722	D	1	B;B;D;B	0.57899	0.073;0.111;0.981;0.13	B;B;D;B	0.69824	0.029;0.088;0.966;0.064	T	0.04565	-1.0942	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	851;686;839;839	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	N	839;851;839;839;839;687	ENSP00000334105:K839N;ENSP00000367734:K851N;ENSP00000278655:K839N;ENSP00000367754:K839N;ENSP00000367762:K839N;ENSP00000390616:K687N	ENSP00000278655:K839N	K	+	3	2	PLCB4	9364235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.191000	0.65110	2.835000	0.97688	0.650000	0.86243	AAG		0.363	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
LAMP5	24141	broad.mit.edu	37	20	9498737	9498737	+	Missense_Mutation	SNP	G	G	A	rs140401099		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:9498737G>A	ENST00000246070.2	+	5	1018	c.526G>A	c.(526-528)Gct>Act	p.A176T	LAMP5_ENST00000427562.2_Missense_Mutation_p.A132T	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	176						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.A176T(1)									GGTCACCCCCGCTGGGAAGTC	0.537																																					p.A132T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	20						.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	114.0	90.0	98.0		394,526	5.9	1.0	20	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C20orf103	NM_001199897.1,NM_012261.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	132/237,176/281	9498737	1,13005	2203	4300	6503	9446737	SO:0001583	missense	24141	exon4			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.526G>A	20.37:g.9498737G>A	ENSP00000246070:p.Ala176Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9446737	NM_001199897	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472592	0.84640	0.0	1.16E-4	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.32753	1.44;1.44	5.93	5.93	0.95920	.	0.047985	0.85682	D	0.000000	T	0.27900	0.0687	L	0.27053	0.805	0.80722	D	1	P;P	0.41643	0.758;0.586	B;B	0.40901	0.328;0.343	T	0.01118	-1.1446	9	.	.	.	-5.2573	20.3539	0.98825	0.0:0.0:1.0:0.0	.	132;176	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	T	176;132	ENSP00000246070:A176T;ENSP00000406360:A132T	.	A	+	1	0	C20orf103	9446737	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.308000	0.96247	2.826000	0.97356	0.655000	0.94253	GCT		0.537	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	
PAK7	57144	broad.mit.edu	37	20	9560824	9560824	+	Missense_Mutation	SNP	G	G	A	rs376118527		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:9560824G>A	ENST00000378429.3	-	5	1504	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.R320C|PAK7_ENST00000353224.5_Missense_Mutation_p.R320C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	320	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R320C(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCGGACAAGCGAGGGTAGGTG	0.542																																					p.R320C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C958T	20						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	312.0	253.0	273.0		958,958	4.9	1.0	20		273	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PAK7	NM_020341.3,NM_177990.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	320/720,320/720	9560824	1,13005	2203	4300	6503	9508824	SO:0001583	missense	57144	exon4			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.958C>T	20.37:g.9560824G>A	ENSP00000367686:p.Arg320Cys	Somatic		Capture	Illumina HiSeq	Phase_I	9508824	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340573	0.81911	0.0	1.16E-4	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74526	-0.85;-0.85;-0.85	5.87	4.92	0.64577	.	0.049144	0.85682	D	0.000000	T	0.74756	0.3758	L	0.27053	0.805	0.80722	D	1	B;D	0.76494	0.225;0.999	B;P	0.59487	0.028;0.858	T	0.72239	-0.4351	9	.	.	.	.	15.4778	0.75497	0.0672:0.0:0.9328:0.0	.	320;320	B0AZM9;Q9P286	.;PAK7_HUMAN	C	320;320;320;268	ENSP00000367686:R320C;ENSP00000322957:R320C;ENSP00000367679:R320C	.	R	-	1	0	PAK7	9508824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.933000	0.70130	2.813000	0.96785	0.638000	0.83543	CGC		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
ESF1	51575	broad.mit.edu	37	20	13756924	13756924	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:13756924A>C	ENST00000202816.1	-	3	745					NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCACTGCAAAATGTTAAAGGG	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						57.0	58.0	58.0					20																	13756924		2203	4297	6500	13704924	SO:0001627	intron_variant	51575	.				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.638-8T>G	20.37:g.13756924A>C		Somatic		Capture	Illumina HiSeq	Phase_I	13704924	.	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Intron	SNP	ENST00000202816.1	37	CCDS13117.1																																																																																				0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
DZANK1	55184	broad.mit.edu	37	20	18414295	18414295	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:18414295C>T	ENST00000358866.6	-	8	884		c.e8+1		RNA5SP476_ENST00000516613.1_RNA|DZANK1_ENST00000487128.1_Splice_Site|DZANK1_ENST00000262547.5_Splice_Site|DZANK1_ENST00000329494.5_Splice_Site|DZANK1_ENST00000357236.4_Splice_Site			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1								zinc ion binding (GO:0008270)	p.?(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CATTTCATTACCTTCAAGTGG	0.428																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	20						.						63.0	64.0	64.0					20																	18414295		1980	4151	6131	18362295	SO:0001630	splice_region_variant	55184	.			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.861+1G>A	20.37:g.18414295C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18362295	.	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Splice_Site	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340842	0.24339	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236;ENST00000358866	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1106	0.81261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf12	18362295	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	5.636000	0.67848	2.448000	0.82819	0.655000	0.94253	.		0.428	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	Intron
SEC23B	10483	broad.mit.edu	37	20	18531827	18531827	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:18531827G>T	ENST00000336714.3	+	17	2424				SEC23B_ENST00000262544.2_Intron|SEC23B_ENST00000377465.1_Intron|SEC23B_ENST00000377475.3_Intron	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GAGGTAAGATGatattattaa	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						61.0	59.0	60.0					20																	18531827		2203	4300	6503	18479827	SO:0001627	intron_variant	10483	.			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1992+8G>T	20.37:g.18531827G>T		Somatic		Capture	Illumina HiSeq	Phase_I	18479827	.	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Intron	SNP	ENST00000336714.3	37	CCDS13137.1																																																																																				0.318	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
SUN5	140732	broad.mit.edu	37	20	31571591	31571591	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31571591G>T	ENST00000356173.3	-	0	1241				SUN5_ENST00000375523.3_3'UTR	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5						spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGGGGTAAAGAATAAATTTT	0.522																																					.												.	.	0			.	20						.						74.0	84.0	80.0					20																	31571591		2203	4300	6503	31035252	SO:0001624	3_prime_UTR_variant	140732	.			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.*9C>A	20.37:g.31571591G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31035252	.	A6NJ82|Q5T9R0	3'UTR	SNP	ENST00000356173.3	37	CCDS13209.1																																																																																				0.522	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675	
SUN5	140732	broad.mit.edu	37	20	31577510	31577510	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:31577510A>T	ENST00000356173.3	-	9	627				SUN5_ENST00000375523.3_Intron	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5						spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TTTTGCTGAAAAGGCAGAAAA	0.512																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						159.0	123.0	135.0					20																	31577510		2203	4300	6503	31041171	SO:0001627	intron_variant	140732	.			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.535-6T>A	20.37:g.31577510A>T		Somatic		Capture	Illumina HiSeq	Phase_I	31041171	.	A6NJ82|Q5T9R0	Intron	SNP	ENST00000356173.3	37	CCDS13209.1																																																																																				0.512	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675	
RALGAPB	57148	broad.mit.edu	37	20	37150350	37150350	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:37150350A>G	ENST00000262879.6	+	10	1903				RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Intron|RALGAPB_ENST00000397040.1_Intron|RALGAPB_ENST00000397038.1_Intron			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGTCTTGGAATTTTTGTTTG	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						79.0	78.0	78.0					20																	37150350		2203	4300	6503	36583764	SO:0001627	intron_variant	57148	.			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1619+9A>G	20.37:g.37150350A>G		Somatic		Capture	Illumina HiSeq	Phase_I	36583764	.	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Intron	SNP	ENST00000262879.6	37	CCDS13305.1																																																																																				0.408	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
IFT52	51098	broad.mit.edu	37	20	42252693	42252693	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:42252693C>T	ENST00000373030.3	+	10	1053				IFT52_ENST00000373039.4_Intron	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52						cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.?(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGAGTCAGTACCTGTGGGCCT	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						249.0	212.0	224.0					20																	42252693		2203	4300	6503	41686107	SO:0001627	intron_variant	51098	.			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.923+8C>T	20.37:g.42252693C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41686107	.	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Intron	SNP	ENST00000373030.3	37	CCDS33470.1																																																																																				0.527	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	
WFDC8	90199	broad.mit.edu	37	20	44184335	44184335	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:44184335C>A	ENST00000357199.4	-	4	524				WFDC8_ENST00000289953.2_Intron	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8							extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGATAGAGGTCTCACCAATTA	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						111.0	101.0	105.0					20																	44184335		2203	4300	6503	43617749	SO:0001627	intron_variant	90199	.			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.445+4G>T	20.37:g.44184335C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43617749	.	E1P623|Q5TDV2|Q96A34	Intron	SNP	ENST00000357199.4	37	CCDS13361.1																																																																																				0.443	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
ELMO2	63916	broad.mit.edu	37	20	45004014	45004014	+	Intron	SNP	G	G	A	rs377490247		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:45004014G>A	ENST00000290246.6	-	13	1125				ELMO2_ENST00000445496.2_Intron|ELMO2_ENST00000372176.1_Intron|ELMO2_ENST00000439931.2_Intron|ELMO2_ENST00000396391.1_Intron|ELMO2_ENST00000454865.2_Intron|ELMO2_ENST00000488853.1_Intron|ELMO2_ENST00000352077.2_Intron	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTGAGCCTGCGAGGTGAAACA	0.502																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.	G	,	0,4406		0,0,2203	89.0	64.0	72.0		,	0.7	0.0	20		72	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron	ELMO2	NM_133171.3,NM_182764.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	,	45004014	2,13004	2203	4300	6503	44437421	SO:0001627	intron_variant	63916	.			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.931-5C>T	20.37:g.45004014G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44437421	.	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Intron	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																				0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086	
ARFGEF2	10564	broad.mit.edu	37	20	47648579	47648579	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:47648579C>A	ENST00000371917.4	+	38	5063					NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.?(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTCTCTAATTCTTCTAGTGTT	0.373																																					.	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Unknown(1)	large_intestine(1)	.	20						.						188.0	210.0	203.0					20																	47648579		2203	4300	6503	47081986	SO:0001627	intron_variant	10564	.			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5064-7C>A	20.37:g.47648579C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47081986	.	Q5TFT9|Q9NTS1	Intron	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																				0.373	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ZNF217	7764	broad.mit.edu	37	20	52194867	52194867	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:52194867C>A	ENST00000371471.2	-	3	1909				ZNF217_ENST00000302342.3_Intron			O75362	ZN217_HUMAN	zinc finger protein 217						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AATAAAAGTTCTTTACCTGTA	0.299																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	20						.						60.0	61.0	61.0					20																	52194867		2200	4289	6489	51628274	SO:0001627	intron_variant	7764	.			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1483+5G>T	20.37:g.52194867C>A		Somatic		Capture	Illumina HiSeq	Phase_I	51628274	.	E1P5Y6|Q14DB8	Intron	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																				0.299	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
RAE1	8480	broad.mit.edu	37	20	55929192	55929192	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:55929192G>A	ENST00000395841.2	+	2	510				RAE1_ENST00000371242.2_Intron|RAE1_ENST00000395840.2_Intron|RAE1_ENST00000527947.1_Intron	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1						carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.?(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAGGTACCACGAAAAGCTTCC	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						90.0	82.0	85.0					20																	55929192		2203	4300	6503	55362599	SO:0001627	intron_variant	8480	.			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.90+8G>A	20.37:g.55929192G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55362599	.	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Intron	SNP	ENST00000395841.2	37	CCDS13458.1																																																																																				0.488	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2		
SYCP2	10388	broad.mit.edu	37	20	58489089	58489089	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58489089T>C	ENST00000357552.3	-	12	1003				SYCP2_ENST00000371001.2_Intron			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.?(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AATCCTAATTTTAAAGAGAAA	0.269																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	20						.						32.0	32.0	32.0					20																	58489089		2201	4294	6495	57922484	SO:0001627	intron_variant	10388	.			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.778-7A>G	20.37:g.58489089T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57922484	.	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Intron	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																				0.269	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
SYCP2	10388	broad.mit.edu	37	20	58490209	58490209	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:58490209G>T	ENST00000357552.3	-	10	860				SYCP2_ENST00000371001.2_Intron			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTGGAAAAGACATACTTAC	0.284																																					.												.	.	0			.	20						.						59.0	68.0	65.0					20																	58490209		2191	4277	6468	57923604	SO:0001627	intron_variant	10388	.			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.634+10C>A	20.37:g.58490209G>T		Somatic		Capture	Illumina HiSeq	Phase_I	57923604	.	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Intron	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																				0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
ZBTB46	140685	broad.mit.edu	37	20	62421805	62421805	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:62421805G>T	ENST00000245663.4	-	2	456	c.306C>A	c.(304-306)gtC>gtA	p.V102V	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.V102V|ZBTB46_ENST00000302995.2_Silent_p.V102V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	102					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V102V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCACCTCGATGACGTTCCTGC	0.607																																					p.V102V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306A	20						.						60.0	49.0	53.0					20																	62421805		2203	4300	6503	61892249	SO:0001819	synonymous_variant	140685	exon2			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.306C>A	20.37:g.62421805G>T		Somatic		Capture	Illumina HiSeq	Phase_I	61892249	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																				0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
POTED	317754	broad.mit.edu	37	21	14982959	14982959	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:14982959G>A	ENST00000299443.5	+	1	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	137						plasma membrane (GO:0005886)		p.R137Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CACATCCGTCGAGAAGATCTG	0.592																																					p.R137Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	21						.						37.0	50.0	48.0					21																	14982959		777	3131	3908	13904830	SO:0001583	missense	317754	exon1			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.410G>A	21.37:g.14982959G>A	ENSP00000299443:p.Arg137Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13904830	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	1.529	-0.544835	0.04024	.	.	ENSG00000166351	ENST00000299443	T	0.52983	0.64	1.29	-0.407	0.12385	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.25531	0.0621	L	0.34521	1.04	0.09310	N	1	P	0.44241	0.829	B	0.36989	0.238	T	0.14980	-1.0453	9	0.12430	T	0.62	.	3.2431	0.06788	0.7352:0.0:0.2648:0.0	.	137	Q86YR6	POTED_HUMAN	Q	137	ENSP00000299443:R137Q	ENSP00000299443:R137Q	R	+	2	0	POTED	13904830	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.114000	0.15520	0.002000	0.14630	-1.109000	0.02080	CGA		0.592	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
POTED	317754	broad.mit.edu	37	21	15000735	15000735	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:15000735T>C	ENST00000299443.5	+	7	1211	c.1159T>C	c.(1159-1161)Tca>Cca	p.S387P		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	387						plasma membrane (GO:0005886)		p.S387P(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAGGAAGAGTCACAAAGGCT	0.303																																					p.S387P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1159C	21						.						1.0	1.0	1.0					21																	15000735		1	4	5	13922606	SO:0001583	missense	317754	exon7			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1159T>C	21.37:g.15000735T>C	ENSP00000299443:p.Ser387Pro	Somatic		Capture	Illumina HiSeq	Phase_I	13922606	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	T	0.203	-1.043109	0.01997	.	.	ENSG00000166351	ENST00000299443	T	0.17370	2.28	1.13	-1.07	0.09968	.	.	.	.	.	T	0.06781	0.0173	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	9	0.36615	T	0.2	.	5.9368	0.19171	0.0:0.7739:0.0:0.2261	.	387	Q86YR6	POTED_HUMAN	P	387	ENSP00000299443:S387P	ENSP00000299443:S387P	S	+	1	0	POTED	13922606	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	-0.353000	0.07691	-0.342000	0.08363	-1.602000	0.00811	TCA		0.303	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
POTED	317754	broad.mit.edu	37	21	15013696	15013696	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:15013696C>A	ENST00000299443.5	+	11	1616	c.1564C>A	c.(1564-1566)Ctc>Atc	p.L522I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	522						plasma membrane (GO:0005886)		p.L522I(1)|p.L522F(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAAGAAGATCTCTTGCGTGA	0.333																																					p.L522I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1564A	21						.						18.0	24.0	23.0					21																	15013696		829	3062	3891	13935567	SO:0001583	missense	317754	exon11			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1564C>A	21.37:g.15013696C>A	ENSP00000299443:p.Leu522Ile	Somatic		Capture	Illumina HiSeq	Phase_I	13935567	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	6.173	0.400175	0.11696	.	.	ENSG00000166351	ENST00000299443	T	0.46451	0.87	2.1	1.19	0.21007	.	.	.	.	.	T	0.31167	0.0788	L	0.41710	1.295	0.09310	N	1	D	0.55385	0.971	B	0.42188	0.379	T	0.12319	-1.0552	9	0.44086	T	0.13	.	6.7502	0.23483	0.0:0.8402:0.0:0.1598	.	522	Q86YR6	POTED_HUMAN	I	522	ENSP00000299443:L522I	ENSP00000299443:L522I	L	+	1	0	POTED	13935567	0.955000	0.32602	0.002000	0.10522	0.000000	0.00434	0.801000	0.27055	0.235000	0.21160	-0.460000	0.05396	CTC		0.333	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
NRIP1	8204	broad.mit.edu	37	21	16339045	16339045	+	Missense_Mutation	SNP	G	G	T	rs143089816	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:16339045G>T	ENST00000400202.1	-	3	2181	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.S490Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.S490Y|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	490	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S490Y(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTTTAGCTTAGAATTCTTTGA	0.393																																					p.S490Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1469A	21						.						179.0	172.0	174.0					21																	16339045		2203	4300	6503	15260916	SO:0001583	missense	8204	exon4			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1469C>A	21.37:g.16339045G>T	ENSP00000383063:p.Ser490Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	15260916	NM_003489	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861638	0.51482	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.20738	2.05;2.05;2.05	5.85	5.85	0.93711	.	0.399455	0.25316	N	0.031546	T	0.36331	0.0963	L	0.46157	1.445	0.39357	D	0.965858	D	0.59767	0.986	P	0.54312	0.748	T	0.04870	-1.0921	10	0.72032	D	0.01	-3.5851	20.1669	0.98153	0.0:0.0:1.0:0.0	.	490	P48552	NRIP1_HUMAN	Y	490	ENSP00000383060:S490Y;ENSP00000383063:S490Y;ENSP00000327213:S490Y	ENSP00000327213:S490Y	S	-	2	0	NRIP1	15260916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.175000	0.71949	2.770000	0.95276	0.650000	0.86243	TCT		0.393	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
NRIP1	8204	broad.mit.edu	37	21	16340192	16340192	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:16340192A>C	ENST00000400202.1	-	3	1034	c.322T>G	c.(322-324)Tta>Gta	p.L108V	NRIP1_ENST00000400199.1_Missense_Mutation_p.L108V|NRIP1_ENST00000318948.4_Missense_Mutation_p.L108V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	108	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L108V(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTACGTTTAAATTCATGATA	0.473																																					p.L108V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T322G	21						.						112.0	110.0	111.0					21																	16340192		2203	4300	6503	15262063	SO:0001583	missense	8204	exon4			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.322T>G	21.37:g.16340192A>C	ENSP00000383063:p.Leu108Val	Somatic		Capture	Illumina HiSeq	Phase_I	15262063	NM_003489	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441398	0.25900	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.15256	2.44;2.44;2.44	5.8	3.44	0.39384	.	0.185486	0.36002	N	0.002850	T	0.12220	0.0297	L	0.39020	1.185	0.35716	D	0.816739	B	0.24768	0.111	B	0.28305	0.088	T	0.12889	-1.0530	10	0.46703	T	0.11	-30.9708	3.6634	0.08246	0.6575:0.1394:0.07:0.1332	.	108	P48552	NRIP1_HUMAN	V	108	ENSP00000383060:L108V;ENSP00000383063:L108V;ENSP00000327213:L108V	ENSP00000327213:L108V	L	-	1	2	NRIP1	15262063	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.217000	0.32455	1.008000	0.39264	0.528000	0.53228	TTA		0.473	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
USP25	29761	broad.mit.edu	37	21	17135221	17135221	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:17135221G>A	ENST00000285679.6	+	2	426	c.57G>A	c.(55-57)acG>acA	p.T19T	USP25_ENST00000351097.5_Silent_p.T19T|USP25_ENST00000285681.2_Silent_p.T19T|USP25_ENST00000400183.2_Silent_p.T19T	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	19	UBA-like.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.T19T(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACCAGCAGACGTTTTTGAATC	0.373																																					p.T19T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G57A	21						.						135.0	137.0	136.0					21																	17135221		2203	4300	6503	16057092	SO:0001819	synonymous_variant	29761	exon2			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.57G>A	21.37:g.17135221G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16057092	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.373	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
C21orf91	54149	broad.mit.edu	37	21	19167581	19167581	+	Missense_Mutation	SNP	G	G	A	rs112947646	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:19167581G>A	ENST00000284881.4	-	4	761	c.671C>T	c.(670-672)tCg>tTg	p.S224L	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'Flank|C21orf91_ENST00000400558.3_Intron|C21orf91_ENST00000400559.3_Missense_Mutation_p.S224L|C21orf91-OT1_ENST00000430815.1_lincRNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3			chromosome 21 open reading frame 91									p.S224L(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AAGAGTCATCGAATTCACTGA	0.368													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17738	0.0		0.0	False		,,,				2504	0.0				p.S224L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	21						.	G	LEU/SER,,LEU/SER	17,3853		0,17,1918	127.0	117.0	120.0		671,,671	-0.2	0.8	21	dbSNP_132	120	1,8283		0,1,4141	yes	missense,intron,missense	C21orf91	NM_001100420.1,NM_001100421.1,NM_017447.3	145,,145	0,18,6059	AA,AG,GG		0.0121,0.4393,0.1481	benign,,benign	224/298,,224/297	19167581	18,12136	1935	4142	6077	18089452	SO:0001583	missense	54149	exon4			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000284881.4:c.671C>T	21.37:g.19167581G>A	ENSP00000284881:p.Ser224Leu	Somatic		Capture	Illumina HiSeq	Phase_I	18089452	NM_001100420		Missense_Mutation	SNP	ENST00000284881.4	37	CCDS42907.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.40	2.225164	0.39300	0.004393	1.21E-4	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000405964	T;T;T	0.14893	2.47;2.47;2.47	5.69	-0.23	0.13090	.	0.720856	0.14327	N	0.326635	T	0.15825	0.0381	L	0.56769	1.78	0.19300	N	0.999971	B;B	0.11235	0.003;0.004	B;B	0.09377	0.002;0.004	T	0.26258	-1.0108	9	.	.	.	0.0301	10.0394	0.42148	0.3449:0.0:0.6551:0.0	.	224;224	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	L	224	ENSP00000284881:S224L;ENSP00000383404:S224L;ENSP00000385566:S224L	.	S	-	2	0	C21orf91	18089452	0.016000	0.18221	0.801000	0.32222	0.804000	0.45430	0.048000	0.14078	-0.295000	0.08960	-1.500000	0.00958	TCG		0.368	C21orf91-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158215.1	NM_017447	
TMPRSS15	5651	broad.mit.edu	37	21	19744581	19744581	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:19744581A>G	ENST00000284885.3	-	6	626	c.593T>C	c.(592-594)aTa>aCa	p.I198T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	198	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.I198T(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCAGCTTTTATACACGTTAG	0.378																																					p.I198T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593C	21						.						121.0	107.0	112.0					21																	19744581		2203	4300	6503	18666452	SO:0001583	missense	5651	exon6				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.593T>C	21.37:g.19744581A>G	ENSP00000284885:p.Ile198Thr	Somatic		Capture	Illumina HiSeq	Phase_I	18666452	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713185	0.30413	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	D;D	0.98381	-4.12;-4.9	5.1	5.1	0.69264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.270367	0.35646	N	0.003068	D	0.98645	0.9546	H	0.96805	3.885	0.09310	N	1	P	0.52577	0.954	P	0.47470	0.548	D	0.96286	0.9210	9	.	.	.	.	11.1834	0.48642	1.0:0.0:0.0:0.0	.	198	P98073	ENTK_HUMAN	T	198;168	ENSP00000284885:I198T;ENSP00000398253:I168T	.	I	-	2	0	TMPRSS15	18666452	0.441000	0.25626	0.019000	0.16419	0.067000	0.16453	5.011000	0.64011	2.138000	0.66242	0.455000	0.32223	ATA		0.378	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19755982	19755982	+	Missense_Mutation	SNP	A	A	G	rs573907615	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:19755982A>G	ENST00000284885.3	-	4	491	c.458T>C	c.(457-459)gTc>gCc	p.V153A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	153	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.V153A(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGAAAGTGACCAGTTGGCT	0.343																																					p.V153A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T458C	21						.						132.0	117.0	122.0					21																	19755982		2203	4300	6503	18677853	SO:0001583	missense	5651	exon4				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.458T>C	21.37:g.19755982A>G	ENSP00000284885:p.Val153Ala	Somatic		Capture	Illumina HiSeq	Phase_I	18677853	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562794	0.45694	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.30182	1.54;1.54	5.81	-0.827	0.10802	SEA (3);	0.580571	0.16996	N	0.191102	T	0.21186	0.0510	L	0.51422	1.61	0.28631	N	0.907687	B	0.14438	0.01	B	0.16289	0.015	T	0.16012	-1.0417	9	.	.	.	.	4.728	0.12950	0.5543:0.0:0.3117:0.134	.	153	P98073	ENTK_HUMAN	A	153;108	ENSP00000284885:V153A;ENSP00000398253:V108A	.	V	-	2	0	TMPRSS15	18677853	0.246000	0.23909	0.986000	0.45419	0.992000	0.81027	0.261000	0.18442	-0.091000	0.12440	-0.290000	0.09829	GTC		0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19770252	19770252	+	Silent	SNP	G	G	T	rs374412563		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:19770252G>T	ENST00000284885.3	-	3	321	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	96	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.I96I(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATAGAAAGATCTCATCTA	0.249																																					p.I96I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288A	21						.	G		2,4266		0,2,2132	15.0	16.0	16.0		288	2.8	1.0	21		16	0,8418		0,0,4209	no	coding-synonymous	TMPRSS15	NM_002772.2		0,2,6341	TT,TG,GG		0.0,0.0469,0.0158		96/1020	19770252	2,12684	2134	4209	6343	18692123	SO:0001819	synonymous_variant	5651	exon3				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.288C>A	21.37:g.19770252G>T		Somatic		Capture	Illumina HiSeq	Phase_I	18692123	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.249	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	broad.mit.edu	37	21	22707894	22707894	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:22707894G>A	ENST00000400546.1	+	7	1056	c.807G>A	c.(805-807)agG>agA	p.R269R	NCAM2_ENST00000284894.7_Silent_p.R127R|NCAM2_ENST00000535285.1_Silent_p.R294R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	269	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R269R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCACTGTCAGGAACATAATCA	0.398																																					p.R269R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G807A	21						.						90.0	84.0	86.0					21																	22707894		1891	4114	6005	21629765	SO:0001819	synonymous_variant	4685	exon7				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.807G>A	21.37:g.22707894G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21629765	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
NCAM2	4685	broad.mit.edu	37	21	22746196	22746196	+	Missense_Mutation	SNP	G	G	T	rs372471672		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:22746196G>T	ENST00000400546.1	+	9	1307	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L	NCAM2_ENST00000284894.7_Missense_Mutation_p.R211L|NCAM2_ENST00000535285.1_Missense_Mutation_p.R378L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	353	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R353L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGGACGGCCGTATCGAAGTC	0.408																																					p.R353L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058T	21						.						125.0	117.0	119.0					21																	22746196		1914	4115	6029	21668067	SO:0001583	missense	4685	exon9				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1058G>T	21.37:g.22746196G>T	ENSP00000383392:p.Arg353Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21668067	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597424	0.87055	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.46451	1.04;1.04;0.87	5.54	4.47	0.54385	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045299	0.85682	D	0.000000	T	0.66915	0.2838	M	0.86420	2.815	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.993	D;P;P	0.68621	0.959;0.884;0.884	T	0.73020	-0.4114	10	0.72032	D	0.01	-12.4672	14.0714	0.64863	0.087:0.0:0.913:0.0	.	378;211;353	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	L	353;211;378	ENSP00000383392:R353L;ENSP00000284894:R211L;ENSP00000441887:R378L	ENSP00000284894:R211L	R	+	2	0	NCAM2	21668067	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	7.360000	0.79487	2.618000	0.88619	0.644000	0.83932	CGT		0.408	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
NCAM2	4685	broad.mit.edu	37	21	22839038	22839038	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:22839038T>C	ENST00000400546.1	+	13	2015	c.1766T>C	c.(1765-1767)tTa>tCa	p.L589S	NCAM2_ENST00000284894.7_Missense_Mutation_p.L447S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	589	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L589S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTCCAAACATTACCAGTTCGT	0.323																																					p.L589S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1766C	21						.						44.0	40.0	42.0					21																	22839038		1817	4064	5881	21760909	SO:0001583	missense	4685	exon13				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1766T>C	21.37:g.22839038T>C	ENSP00000383392:p.Leu589Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21760909	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671091	0.29693	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.56275	0.47;0.47	4.47	4.47	0.54385	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.078896	0.50627	D	0.000120	T	0.61185	0.2327	L	0.39245	1.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.958	T	0.60742	-0.7203	10	0.41790	T	0.15	-8.1495	12.8723	0.57972	0.0:0.0:0.0:1.0	.	447;589	B7Z5K2;O15394	.;NCAM2_HUMAN	S	589;447	ENSP00000383392:L589S;ENSP00000284894:L447S	ENSP00000284894:L447S	L	+	2	0	NCAM2	21760909	0.993000	0.37304	0.062000	0.19696	0.017000	0.09413	7.186000	0.77722	1.777000	0.52277	0.482000	0.46254	TTA		0.323	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
NCAM2	4685	broad.mit.edu	37	21	22881175	22881175	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:22881175C>T	ENST00000400546.1	+	16	2330	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M	NCAM2_ENST00000284894.7_Missense_Mutation_p.T552M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	694					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T694M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ttttAAGACACGCTGTTTAAT	0.308																																					p.T694M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2081T	21						.						63.0	54.0	57.0					21																	22881175		1868	4093	5961	21803046	SO:0001583	missense	4685	exon16				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2081C>T	21.37:g.22881175C>T	ENSP00000383392:p.Thr694Met	Somatic		Capture	Illumina HiSeq	Phase_I	21803046	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790952	0.50102	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.60797	0.16;0.24	4.98	4.98	0.66077	.	0.047904	0.85682	D	0.000000	T	0.54919	0.1888	N	0.22421	0.69	0.80722	D	1	D;D	0.67145	0.99;0.996	P;P	0.50490	0.572;0.642	T	0.61691	-0.7011	10	0.87932	D	0	-23.2999	17.699	0.88289	0.0:1.0:0.0:0.0	.	552;694	B7Z5K2;O15394	.;NCAM2_HUMAN	M	694;552	ENSP00000383392:T694M;ENSP00000284894:T552M	ENSP00000284894:T552M	T	+	2	0	NCAM2	21803046	0.997000	0.39634	0.998000	0.56505	0.477000	0.33069	3.610000	0.54125	2.689000	0.91719	0.643000	0.83706	ACG		0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
GABPA	2551	broad.mit.edu	37	21	27117628	27117628	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:27117628C>A	ENST00000354828.3	+	3	712	c.185C>A	c.(184-186)tCt>tAt	p.S62Y	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.S62Y	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	62					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S62Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTACAGTGTTCTTTGGATGCT	0.353																																					p.S62Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185A	21						.						69.0	70.0	69.0					21																	27117628		2203	4300	6503	26039499	SO:0001583	missense	2551	exon3				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.185C>A	21.37:g.27117628C>A	ENSP00000346886:p.Ser62Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	26039499	NM_001197297	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689117	0.88735	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13307	2.6;2.6	5.23	5.23	0.72850	GA-binding protein alpha subunit, N-terminal (1);	0.577860	0.19025	N	0.124701	T	0.27241	0.0668	L	0.46157	1.445	0.54753	D	0.999984	P	0.52061	0.95	P	0.54924	0.764	T	0.00712	-1.1598	10	0.62326	D	0.03	.	18.3943	0.90493	0.0:1.0:0.0:0.0	.	62	Q06546	GABPA_HUMAN	Y	62	ENSP00000346886:S62Y;ENSP00000382948:S62Y	ENSP00000346886:S62Y	S	+	2	0	GABPA	26039499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.680000	0.68168	2.436000	0.82500	0.655000	0.94253	TCT		0.353	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040	
GABPA	2551	broad.mit.edu	37	21	27137088	27137088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:27137088C>T	ENST00000354828.3	+	9	1653	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	GABPA_ENST00000400075.3_Missense_Mutation_p.R376C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	376					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R376C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAAACTCAGTCGTGCATTAAG	0.328																																					p.R376C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1126T	21						.						83.0	74.0	77.0					21																	27137088		2203	4299	6502	26058959	SO:0001583	missense	2551	exon9				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1126C>T	21.37:g.27137088C>T	ENSP00000346886:p.Arg376Cys	Somatic		Capture	Illumina HiSeq	Phase_I	26058959	NM_001197297	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848762	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.33865	1.39;1.39	5.05	5.05	0.67936	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.045258	0.85682	D	0.000000	T	0.74673	0.3747	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84547	0.0642	10	0.87932	D	0	.	18.1833	0.89785	0.0:1.0:0.0:0.0	.	376	Q06546	GABPA_HUMAN	C	376	ENSP00000346886:R376C;ENSP00000382948:R376C	ENSP00000346886:R376C	R	+	1	0	GABPA	26058959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.327000	0.43858	2.619000	0.88677	0.655000	0.94253	CGT		0.328	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040	
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:27327992G>A	ENST00000346798.3	-	12	1569	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	APP_ENST00000439274.2_Silent_p.F456F|APP_ENST00000448388.2_Silent_p.F402F|APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000358918.3_Silent_p.F512F|APP_ENST00000354192.3_Silent_p.F381F	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	512	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.F512F(2)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493																																					p.F437F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1311T	21						.						217.0	169.0	185.0					21																	27327992		2203	4300	6503	26249863	SO:0001819	synonymous_variant	351	exon10			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1536C>T	21.37:g.27327992G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26249863	NM_201414	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360705	0.11296	.	.	ENSG00000142192	ENST00000448850	.	.	.	5.45	0.505	0.16953	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1801	9.3162	0.37934	0.5085:0.0:0.4915:0.0	.	.	.	.	X	415	.	.	R	-	1	2	APP	26249863	0.984000	0.35163	1.000000	0.80357	0.467000	0.32768	0.330000	0.19715	0.182000	0.20032	-0.302000	0.09304	CGA		0.493	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
ADAMTS5	11096	broad.mit.edu	37	21	28338243	28338243	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:28338243G>A	ENST00000284987.5	-	1	589	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	156					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F156F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTTGACCGCGAAGAAGCCGT	0.662																																					p.F156F	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	21						.						26.0	25.0	26.0					21																	28338243		2201	4299	6500	27260114	SO:0001819	synonymous_variant	11096	exon1			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.468C>T	21.37:g.28338243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27260114	NM_007038	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.662	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RWDD2B	10069	broad.mit.edu	37	21	30380805	30380805	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:30380805C>A	ENST00000493196.1	-	2	305	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	69	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.D69Y(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TCAATACAATCTTTCAGTTCT	0.438																																					p.D69Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205T	21						.						95.0	89.0	91.0					21																	30380805		2203	4300	6503	29302676	SO:0001583	missense	10069	exon2			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.205G>T	21.37:g.30380805C>A	ENSP00000418693:p.Asp69Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29302676	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373819	0.61624	.	.	ENSG00000156253	ENST00000493196	T	0.32988	1.43	5.65	4.76	0.60689	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.554779	0.20469	N	0.091733	T	0.32941	0.0846	L	0.59436	1.845	0.35457	D	0.796211	B	0.13594	0.008	B	0.21546	0.035	T	0.40720	-0.9548	10	0.62326	D	0.03	-29.3767	12.4925	0.55907	0.1251:0.7397:0.1353:0.0	.	69	P57060	RWD2B_HUMAN	Y	69	ENSP00000418693:D69Y	ENSP00000418693:D69Y	D	-	1	0	RWDD2B	29302676	0.998000	0.40836	0.788000	0.31933	0.989000	0.77384	3.562000	0.53777	1.601000	0.50113	0.655000	0.94253	GAT		0.438	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
CCT8	10694	broad.mit.edu	37	21	30437424	30437424	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:30437424G>A	ENST00000286788.4	-	7	833	c.627C>T	c.(625-627)ggC>ggT	p.G209G	CCT8_ENST00000542732.1_Silent_p.G190G|CCT8_ENST00000540844.1_Silent_p.G136G|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	209					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.G209G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TGATACCAGAGCCCTAAGGAA	0.368																																					p.G209G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C627T	21						.						111.0	104.0	106.0					21																	30437424		2203	4300	6503	29359295	SO:0001819	synonymous_variant	10694	exon7			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.627C>T	21.37:g.30437424G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29359295	NM_006585	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	CCDS33528.1																																																																																				0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		
BACH1	571	broad.mit.edu	37	21	30698685	30698685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:30698685G>T	ENST00000399921.1	+	3	783	c.540G>T	c.(538-540)caG>caT	p.Q180H	BACH1_ENST00000286800.3_Missense_Mutation_p.Q180H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q180H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAAATGTTCAGACTCCTCAGT	0.423																																					p.Q180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G540T	21						.						71.0	74.0	73.0					21																	30698685		2203	4300	6503	29620556	SO:0001583	missense	571	exon3			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.540G>T	21.37:g.30698685G>T	ENSP00000382805:p.Gln180His	Somatic		Capture	Illumina HiSeq	Phase_I	29620556	NM_001186	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605724	0.28623	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177	T;T;T;T	0.75938	-0.69;-0.69;-0.98;-0.97	5.24	2.4	0.29515	.	0.692559	0.14249	N	0.331588	T	0.58793	0.2147	L	0.29908	0.895	0.21256	N	0.999749	B	0.13594	0.008	B	0.14023	0.01	T	0.45775	-0.9238	10	0.35671	T	0.21	-2.8541	6.098	0.20031	0.241:0.1363:0.6227:0.0	.	180	O14867	BACH1_HUMAN	H	180	ENSP00000286800:Q180H;ENSP00000382805:Q180H;ENSP00000400576:Q180H;ENSP00000408605:Q180H	ENSP00000286800:Q180H	Q	+	3	2	BACH1	29620556	0.085000	0.21516	0.965000	0.40720	0.980000	0.70556	0.804000	0.27098	0.297000	0.22615	0.591000	0.81541	CAG		0.423	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
GRIK1	2897	broad.mit.edu	37	21	30959871	30959871	+	Silent	SNP	G	G	A	rs375145652		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:30959871G>A	ENST00000399907.1	-	12	2019	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	GRIK1_ENST00000389124.2_Silent_p.Y536Y|GRIK1_ENST00000535441.1_Silent_p.Y538Y|GRIK1_ENST00000309434.7_Silent_p.Y538Y|GRIK1_ENST00000327783.4_Silent_p.Y536Y|GRIK1_ENST00000389125.3_Silent_p.Y521Y|GRIK1_ENST00000399909.1_Silent_p.Y521Y|GRIK1_ENST00000399913.1_Silent_p.Y536Y|GRIK1_ENST00000399914.1_Silent_p.Y521Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	536					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y536Y(1)|p.Y521Y(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCTCCCGCACGTAGGTGATGG	0.478																																					p.Y521Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1563T	21						.	G	,	1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		1608,1563	-8.0	0.8	21		72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	536/919,521/906	30959871	1,13005	2203	4300	6503	29881742	SO:0001819	synonymous_variant	2897	exon11				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1608C>T	21.37:g.30959871G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29881742	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
GRIK1	2897	broad.mit.edu	37	21	31023465	31023465	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31023465C>T	ENST00000399907.1	-	6	1338	c.927G>A	c.(925-927)gaG>gaA	p.E309E	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Silent_p.E309E|GRIK1_ENST00000535441.1_Silent_p.E309E|GRIK1_ENST00000309434.7_Silent_p.E309E|GRIK1_ENST00000327783.4_Silent_p.E309E|GRIK1_ENST00000389125.3_Silent_p.E309E|GRIK1_ENST00000399909.1_Silent_p.E309E|GRIK1_ENST00000399913.1_Silent_p.E309E|GRIK1_ENST00000399914.1_Silent_p.E309E	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E309E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AAAGGCCAGTCTCGGGCCTGG	0.463																																					p.E309E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G927A	21						.						64.0	61.0	62.0					21																	31023465		2203	4300	6503	29945336	SO:0001819	synonymous_variant	2897	exon6				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.927G>A	21.37:g.31023465C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29945336	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
GRIK1	2897	broad.mit.edu	37	21	31066353	31066353	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31066353G>A	ENST00000399907.1	-	2	559	c.148C>T	c.(148-150)Cct>Tct	p.P50S	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.P50S|GRIK1_ENST00000535441.1_Missense_Mutation_p.P50S|GRIK1_ENST00000309434.7_Missense_Mutation_p.P50S|GRIK1_ENST00000327783.4_Missense_Mutation_p.P50S|GRIK1_ENST00000389125.3_Missense_Mutation_p.P50S|GRIK1_ENST00000399909.1_Missense_Mutation_p.P50S|GRIK1_ENST00000399913.1_Missense_Mutation_p.P50S|GRIK1_ENST00000399914.1_Missense_Mutation_p.P50S	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	50					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P50S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ACATTAACAGGCTCATTTTCC	0.378																																					p.P50S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C148T	21						.						114.0	105.0	108.0					21																	31066353		2203	4300	6503	29988224	SO:0001583	missense	2897	exon2				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.148C>T	21.37:g.31066353G>A	ENSP00000382791:p.Pro50Ser	Somatic		Capture	Illumina HiSeq	Phase_I	29988224	NM_175611	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938025	0.52972	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.13	5.13	0.70059	.	0.653954	0.15618	N	0.253044	T	0.12689	0.0308	N	0.14661	0.345	0.80722	D	1	B;P;P;P	0.39535	0.355;0.54;0.677;0.67	B;B;B;B	0.33799	0.054;0.073;0.17;0.109	T	0.19614	-1.0300	10	0.11182	T	0.66	.	18.3733	0.90420	0.0:0.0:1.0:0.0	.	50;50;50;50	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	S	50	ENSP00000327687:P50S;ENSP00000373777:P50S;ENSP00000382797:P50S;ENSP00000382798:P50S;ENSP00000446326:P50S;ENSP00000373776:P50S;ENSP00000382791:P50S;ENSP00000382793:P50S;ENSP00000311646:P50S	ENSP00000311646:P50S	P	-	1	0	GRIK1	29988224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.485000	0.73625	2.669000	0.90835	0.655000	0.94253	CCT		0.378	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
CLDN17	26285	broad.mit.edu	37	21	31538598	31538598	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31538598C>A	ENST00000286808.3	-	1	373	c.338G>T	c.(337-339)aGg>aTg	p.R113M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	113					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R113M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCTTTGGCCCTCTCGTTAGA	0.542																																					p.R113M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338T	21						.						83.0	82.0	83.0					21																	31538598		2203	4300	6503	30460469	SO:0001583	missense	26285	exon1			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.338G>T	21.37:g.31538598C>A	ENSP00000286808:p.Arg113Met	Somatic		Capture	Illumina HiSeq	Phase_I	30460469	NM_012131	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817244	0.16607	.	.	ENSG00000156282	ENST00000286808	D	0.88431	-2.38	4.69	1.71	0.24356	.	0.178956	0.42682	D	0.000669	D	0.90820	0.7117	M	0.71036	2.16	0.09310	N	1	D	0.59357	0.985	D	0.64687	0.928	T	0.81484	-0.0912	10	0.49607	T	0.09	.	4.2518	0.10698	0.1598:0.5183:0.0:0.322	.	113	P56750	CLD17_HUMAN	M	113	ENSP00000286808:R113M	ENSP00000286808:R113M	R	-	2	0	CLDN17	30460469	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.019000	0.12546	0.378000	0.24764	0.655000	0.94253	AGG		0.542	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
CLDN8	9073	broad.mit.edu	37	21	31587593	31587593	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31587593G>A	ENST00000399899.1	-	1	798	c.651C>T	c.(649-651)agC>agT	p.S217S	CLDN8_ENST00000286809.1_Silent_p.S217S	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	217					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S217S(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TGGAGTAGACGCTCGGTGACT	0.378																																					p.S217S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C651T	21						.						135.0	124.0	127.0					21																	31587593		2203	4300	6503	30509464	SO:0001819	synonymous_variant	9073	exon1			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.651C>T	21.37:g.31587593G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30509464	NM_199328	D3DSE3|Q53EX7	Silent	SNP	ENST00000399899.1	37	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	G	1.237	-0.622534	0.03636	.	.	ENSG00000156284	ENST00000536721	.	.	.	4.85	-5.6	0.02497	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.57665	-0.7772	5	0.56958	D	0.05	.	15.7307	0.77800	0.6522:0.0:0.3478:0.0	.	.	.	.	C	216	.	ENSP00000439258:R216C	R	-	1	0	CLDN8	30509464	0.000000	0.05858	0.022000	0.16811	0.516000	0.34256	-1.121000	0.03270	-1.169000	0.02772	-0.897000	0.02905	CGT		0.378	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328	
KRTAP26-1	388818	broad.mit.edu	37	21	31692048	31692048	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31692048G>T	ENST00000360542.3	-	1	559	c.306C>A	c.(304-306)ttC>ttA	p.F102L		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	102						intermediate filament (GO:0005882)		p.F102L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AACTGGAGAAGAAAGAAGCAG	0.532																																					p.F102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C306A	21						.						117.0	117.0	117.0					21																	31692048		2203	4300	6503	30613919	SO:0001583	missense	388818	exon1			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.306C>A	21.37:g.31692048G>T	ENSP00000353742:p.Phe102Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30613919	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	G	7.768	0.706748	0.15239	.	.	ENSG00000197683	ENST00000360542	T	0.03004	4.08	5.09	2.17	0.27698	.	0.692241	0.13273	N	0.400345	T	0.03871	0.0109	L	0.39898	1.24	0.09310	N	1	B	0.12630	0.006	B	0.18561	0.022	T	0.39057	-0.9632	10	0.56958	D	0.05	-4.0444	5.7533	0.18158	0.1816:0.1608:0.6575:0.0	.	102	Q6PEX3	KR261_HUMAN	L	102	ENSP00000353742:F102L	ENSP00000353742:F102L	F	-	3	2	KRTAP26-1	30613919	0.000000	0.05858	0.000000	0.03702	0.677000	0.39632	-0.117000	0.10708	0.336000	0.23639	0.563000	0.77884	TTC		0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405	
KRTAP19-1	337882	broad.mit.edu	37	21	31852379	31852379	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31852379G>T	ENST00000390689.2	-	1	284	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	86						intermediate filament (GO:0005882)		p.F86L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AAAAGCCAGAGAATCCGTATC	0.468																																					p.F86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C258A	21						.						133.0	147.0	142.0					21																	31852379		2203	4300	6503	30774250	SO:0001583	missense	337882	exon1			AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.258C>A	21.37:g.31852379G>T	ENSP00000375108:p.Phe86Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30774250	NM_181607	A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852561	0.32699	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.10960	2.82	4.92	2.09	0.27110	.	1.227370	0.06249	U	0.691789	T	0.08626	0.0214	.	.	.	0.09310	N	1	P	0.39480	0.675	B	0.31614	0.133	T	0.35201	-0.9798	9	0.87932	D	0	.	7.6715	0.28462	0.2769:0.0:0.7231:0.0	.	86	Q8IUB9	KR191_HUMAN	L	86;77	ENSP00000375108:F86L	ENSP00000375108:F86L	F	-	3	2	KRTAP19-1	30774250	0.566000	0.26618	0.019000	0.16419	0.403000	0.30841	0.848000	0.27710	0.336000	0.23639	0.591000	0.81541	TTC		0.468	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2		
KRTAP19-5	337972	broad.mit.edu	37	21	31874282	31874282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:31874282C>A	ENST00000334151.2	-	1	153	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	43						intermediate filament (GO:0005882)		p.G43C(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						TATCCGTAGCCTCCGTAGCCA	0.567																																					p.G43C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127T	21						.						130.0	123.0	125.0					21																	31874282		2203	4300	6503	30796153	SO:0001583	missense	337972	exon1			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.127G>T	21.37:g.31874282C>A	ENSP00000334985:p.Gly43Cys	Somatic		Capture	Illumina HiSeq	Phase_I	30796153	NM_181611	A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641440	0.29157	.	.	ENSG00000186977	ENST00000334151	T	0.19938	2.11	4.63	2.77	0.32553	.	1.256380	0.06339	U	0.707696	T	0.43433	0.1247	.	.	.	0.29229	N	0.87341	D	0.89917	1.0	D	0.75484	0.986	T	0.11251	-1.0595	9	0.87932	D	0	-2.3236	6.4025	0.21646	0.0:0.7151:0.1848:0.1001	.	43	Q3LI72	KR195_HUMAN	C	43	ENSP00000334985:G43C	ENSP00000334985:G43C	G	-	1	0	KRTAP19-5	30796153	0.000000	0.05858	0.157000	0.22605	0.325000	0.28411	-0.203000	0.09438	0.655000	0.30866	0.591000	0.81541	GGC		0.567	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2		
TIAM1	7074	broad.mit.edu	37	21	32526694	32526694	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32526694G>T	ENST00000286827.3	-	18	3513	c.3042C>A	c.(3040-3042)ccC>ccA	p.P1014P	TIAM1_ENST00000541036.1_Silent_p.P954P	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1014					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1014P(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTGGTCAGAGGGGTTCATCT	0.572																																					p.P1014P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3042A	21						.						133.0	121.0	125.0					21																	32526694		2203	4300	6503	31448565	SO:0001819	synonymous_variant	7074	exon18				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3042C>A	21.37:g.32526694G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31448565	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.572	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32589979	32589979	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32589979G>A	ENST00000286827.3	-	10	2503	c.2032C>T	c.(2032-2034)Cgt>Tgt	p.R678C	TIAM1_ENST00000541036.1_Missense_Mutation_p.R678C|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	678			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R678C(3)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTGAGTACGTCTTCTCACT	0.557																																					p.R678C												TIAM1,large_intestine,colon,Substitution - Missense,0 	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2032T	21						.						148.0	120.0	130.0					21																	32589979		2203	4300	6503	31511850	SO:0001583	missense	7074	exon10				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2032C>T	21.37:g.32589979G>A	ENSP00000286827:p.Arg678Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31511850	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561694	0.86335	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.39592	1.07;1.07	5.41	4.47	0.54385	.	0.058228	0.64402	D	0.000003	T	0.54271	0.1848	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.991	P;P;P;P	0.57846	0.8;0.738;0.828;0.635	T	0.56950	-0.7894	10	0.87932	D	0	.	13.6047	0.62039	0.0:0.0:0.7883:0.2117	.	678;678;519;678	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	C	678;519;678	ENSP00000286827:R678C;ENSP00000441570:R678C	ENSP00000286827:R678C	R	-	1	0	TIAM1	31511850	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.589000	0.46145	2.803000	0.96430	0.655000	0.94253	CGT		0.557	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32598046	32598046	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32598046T>C	ENST00000286827.3	-	8	2276	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	TIAM1_ENST00000541036.1_Missense_Mutation_p.D602G|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	602					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D602G(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATTACCTGATCTAATATTGT	0.353																																					p.D602G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1805G	21						.						107.0	103.0	104.0					21																	32598046		2203	4300	6503	31519917	SO:0001583	missense	7074	exon8				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1805A>G	21.37:g.32598046T>C	ENSP00000286827:p.Asp602Gly	Somatic		Capture	Illumina HiSeq	Phase_I	31519917	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967479	0.53507	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.41065	1.02;1.01	4.78	4.78	0.61160	.	0.107965	0.64402	D	0.000006	T	0.41096	0.1144	L	0.34521	1.04	0.58432	D	0.999994	P;P;P;P	0.52463	0.952;0.843;0.953;0.919	P;B;P;B	0.48400	0.543;0.139;0.576;0.341	T	0.35051	-0.9804	10	0.52906	T	0.07	.	14.4795	0.67570	0.0:0.0:0.0:1.0	.	602;602;443;602	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	G	602;443;602	ENSP00000286827:D602G;ENSP00000441570:D602G	ENSP00000286827:D602G	D	-	2	0	TIAM1	31519917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.001000	0.70685	2.001000	0.58596	0.533000	0.62120	GAT		0.353	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32638718	32638718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32638718C>A	ENST00000286827.3	-	5	1042	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E191*|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	191					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E191*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTTAAATGTTCTTGGCTCAGA	0.547																																					p.E191X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G571T	21						.						94.0	92.0	92.0					21																	32638718		2203	4300	6503	31560589	SO:0001587	stop_gained	7074	exon5				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.571G>T	21.37:g.32638718C>A	ENSP00000286827:p.Glu191*	Somatic		Capture	Illumina HiSeq	Phase_I	31560589	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	40	8.376759	0.98784	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	.	.	.	5.59	5.59	0.84812	.	0.054064	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	.	.	.	X	191;32;191;191	.	ENSP00000286827:E191X	E	-	1	0	TIAM1	31560589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.019000	0.76412	2.621000	0.88768	0.591000	0.81541	GAA		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32639243	32639243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32639243C>A	ENST00000286827.3	-	5	517	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E16*|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	16					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E16*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCATGCTTTTCTCCATAAAAC	0.557																																					p.E16X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G46T	21						.						52.0	55.0	54.0					21																	32639243		2203	4300	6503	31561114	SO:0001587	stop_gained	7074	exon5				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.46G>T	21.37:g.32639243C>A	ENSP00000286827:p.Glu16*	Somatic		Capture	Illumina HiSeq	Phase_I	31561114	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	38	6.799385	0.97849	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	.	.	.	5.08	5.08	0.68730	.	0.522879	0.21621	N	0.071657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.9169	0.52771	0.0:0.9198:0.0:0.0802	.	.	.	.	X	16	.	ENSP00000286827:E16X	E	-	1	0	TIAM1	31561114	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	1.984000	0.40658	2.367000	0.80283	0.460000	0.39030	GAA		0.557	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SCAF4	57466	broad.mit.edu	37	21	33065780	33065780	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:33065780C>T	ENST00000286835.7	-	12	1722	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.R432Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.R447Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	447						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R447Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGATCTAGATCGCCTCCTTTT	0.433																																					p.R432Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1295A	21						.						86.0	64.0	71.0					21																	33065780		2203	4300	6503	31987651	SO:0001583	missense	57466	exon11			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1340G>A	21.37:g.33065780C>T	ENSP00000286835:p.Arg447Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31987651	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797601	0.90538	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.29142	1.58;1.58;1.58	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);	0.073052	0.53938	D	0.000046	T	0.58119	0.2100	M	0.74647	2.275	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.988;0.996;0.992	T	0.60642	-0.7223	10	0.54805	T	0.06	-12.8166	18.7325	0.91741	0.0:1.0:0.0:0.0	.	432;447;447;447	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	432;447;447	ENSP00000402377:R432Q;ENSP00000286835:R447Q;ENSP00000382703:R447Q	ENSP00000286835:R447Q	R	-	2	0	SCAF4	31987651	0.991000	0.36638	0.989000	0.46669	0.996000	0.88848	7.771000	0.85420	2.413000	0.81919	0.557000	0.71058	CGA		0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
HUNK	30811	broad.mit.edu	37	21	33371162	33371162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:33371162C>T	ENST00000270112.2	+	11	2170	c.1810C>T	c.(1810-1812)Cca>Tca	p.P604S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	604					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P604S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CCCGGGTCTGCCATCCGGAAG	0.557																																					p.P604S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1810T	21						.						53.0	48.0	50.0					21																	33371162		2203	4300	6503	32293033	SO:0001583	missense	30811	exon11			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1810C>T	21.37:g.33371162C>T	ENSP00000270112:p.Pro604Ser	Somatic		Capture	Illumina HiSeq	Phase_I	32293033	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371765	0.11409	.	.	ENSG00000142149	ENST00000270112	T	0.67523	-0.27	4.39	3.51	0.40186	.	0.524527	0.18644	N	0.135193	T	0.47173	0.1431	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.24905	-1.0147	10	0.20519	T	0.43	-0.0103	12.2149	0.54400	0.0:0.9175:0.0:0.0825	.	604	P57058	HUNK_HUMAN	S	604	ENSP00000270112:P604S	ENSP00000270112:P604S	P	+	1	0	HUNK	32293033	0.168000	0.22989	0.015000	0.15790	0.054000	0.15201	1.794000	0.38774	1.065000	0.40693	0.491000	0.48974	CCA		0.557	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
SYNJ1	8867	broad.mit.edu	37	21	34022646	34022646	+	Missense_Mutation	SNP	C	C	T	rs371117480		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34022646C>T	ENST00000322229.7	-	22	2884	c.2885G>A	c.(2884-2886)cGg>cAg	p.R962Q	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R962Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R1001Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R957Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.R1001Q			O43426	SYNJ1_HUMAN	synaptojanin 1	962	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R962Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGTTATAGTCCGATTCAATAA	0.318																																					p.R1001Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3002A	21						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	92.0	98.0	96.0		2885,2870,3002,3002	5.5	1.0	21		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYNJ1	NM_001160302.1,NM_001160306.1,NM_003895.3,NM_203446.2	43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	962/1296,957/1527,1001/1613,1001/1351	34022646	1,13005	2203	4300	6503	32944517	SO:0001583	missense	8867	exon23			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2885G>A	21.37:g.34022646C>T	ENSP00000322234:p.Arg962Gln	Somatic		Capture	Illumina HiSeq	Phase_I	32944517	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956810	0.53293	0.0	1.16E-4	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93547	-2.38;-3.22;-3.24;-2.41;-2.41	5.52	5.52	0.82312	Domain of unknown function DUF1866 (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.051832	0.85682	D	0.000000	D	0.86694	0.5994	L	0.40543	1.245	0.36798	D	0.88519	B;B;B;P;P	0.43633	0.037;0.165;0.061;0.593;0.813	B;B;B;B;B	0.29862	0.021;0.046;0.012;0.108;0.091	D	0.88455	0.3051	10	0.46703	T	0.11	.	9.9988	0.41916	0.0:0.851:0.0:0.149	.	957;1001;962;962;962	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	957;962;1001;1001;962	ENSP00000371931:R957Q;ENSP00000349903:R962Q;ENSP00000371939:R1001Q;ENSP00000409667:R1001Q;ENSP00000322234:R962Q	ENSP00000322234:R962Q	R	-	2	0	SYNJ1	32944517	.	.	1.000000	0.80357	0.989000	0.77384	.	.	2.601000	0.87937	0.650000	0.86243	CGG		0.318	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PAXBP1	94104	broad.mit.edu	37	21	34110548	34110548	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34110548C>T	ENST00000331923.4	-	16	2606	c.2417G>A	c.(2416-2418)cGa>cAa	p.R806Q	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	806					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R806Q(1)									GAGAATATATCGATTTAATAA	0.313																																					p.R806Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2417A	21						.						72.0	74.0	73.0					21																	34110548		2203	4294	6497	33032419	SO:0001583	missense	94104	exon16			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2417G>A	21.37:g.34110548C>T	ENSP00000328992:p.Arg806Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33032419	NM_016631	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321173	0.95682	.	.	ENSG00000159086	ENST00000331923	T	0.41400	1.0	5.61	5.61	0.85477	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68345	-0.5433	10	0.42905	T	0.14	-11.8421	19.6221	0.95663	0.0:1.0:0.0:0.0	.	806;315	Q9Y5B6;B3KSC0	GCFC1_HUMAN;.	Q	806	ENSP00000328992:R806Q	ENSP00000328992:R806Q	R	-	2	0	GCFC1	33032419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.670000	0.74467	2.816000	0.96949	0.563000	0.77884	CGA		0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
PAXBP1	94104	broad.mit.edu	37	21	34116023	34116023	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34116023C>A	ENST00000331923.4	-	14	2422	c.2233G>T	c.(2233-2235)Gat>Tat	p.D745Y	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Missense_Mutation_p.D745Y	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	745					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D745Y(1)									ACATCATCATCTAAAGTTCTT	0.289																																					p.D745Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2233T	21						.						82.0	79.0	80.0					21																	34116023		2200	4289	6489	33037894	SO:0001583	missense	94104	exon14			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2233G>T	21.37:g.34116023C>A	ENSP00000328992:p.Asp745Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	33037894	NM_016631	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663611	0.88251	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.48836	0.8;0.8	6.06	6.06	0.98353	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.993	T	0.68689	-0.5342	10	0.87932	D	0	-28.6832	20.2348	0.98355	0.0:1.0:0.0:0.0	.	745;745;254	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	Y	745	ENSP00000328992:D745Y;ENSP00000290178:D745Y	ENSP00000290178:D745Y	D	-	1	0	GCFC1	33037894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.948000	0.75965	2.880000	0.98712	0.650000	0.86243	GAT		0.289	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
PAXBP1	94104	broad.mit.edu	37	21	34120930	34120930	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34120930C>A	ENST00000331923.4	-	11	1992	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.Q601H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	601					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q601H(1)									ATGCTTCAAACTGTGATTTAA	0.368																																					p.Q601H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1803T	21						.						93.0	90.0	91.0					21																	34120930		2203	4300	6503	33042801	SO:0001583	missense	94104	exon11			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1803G>T	21.37:g.34120930C>A	ENSP00000328992:p.Gln601His	Somatic		Capture	Illumina HiSeq	Phase_I	33042801	NM_016631	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436537	0.25813	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.42513	0.97;0.97	5.65	1.74	0.24563	GC-rich sequence DNA-binding factor domain (1);	0.112077	0.64402	D	0.000007	T	0.19087	0.0458	N	0.03324	-0.35	0.44254	D	0.997103	B;B;B	0.21381	0.045;0.055;0.007	B;B;B	0.17433	0.01;0.018;0.005	T	0.04579	-1.0941	10	0.42905	T	0.14	-15.4246	10.063	0.42286	0.0:0.7142:0.0:0.2858	.	601;601;110	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	H	601	ENSP00000328992:Q601H;ENSP00000290178:Q601H	ENSP00000290178:Q601H	Q	-	3	2	GCFC1	33042801	0.061000	0.20836	0.998000	0.56505	0.988000	0.76386	-0.669000	0.05262	0.038000	0.15604	-0.252000	0.11476	CAG		0.368	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
IFNAR1	3454	broad.mit.edu	37	21	34727767	34727767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34727767C>T	ENST00000270139.3	+	11	1738	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	IFNAR1_ENST00000442357.2_Missense_Mutation_p.S468F|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S460F	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	529					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.S529F(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AAATACAGTTCCCAAACTAGC	0.318																																					p.S529F	Esophageal Squamous(73;817 1211 32990 35667 42746)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1586T	21						.						84.0	92.0	89.0					21																	34727767		2203	4300	6503	33649637	SO:0001583	missense	3454	exon11				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1586C>T	21.37:g.34727767C>T	ENSP00000270139:p.Ser529Phe	Somatic		Capture	Illumina HiSeq	Phase_I	33649637	NM_000629	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955365	0.34471	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48836	0.8;0.93;1.49	5.67	3.68	0.42216	.	0.744192	0.12474	N	0.465760	T	0.64800	0.2631	M	0.75447	2.3	0.24525	N	0.994141	D	0.76494	0.999	D	0.70227	0.968	T	0.52808	-0.8526	10	0.72032	D	0.01	-5.7968	7.9805	0.30181	0.1689:0.7414:0.0:0.0897	.	529	P17181	INAR1_HUMAN	F	460;529;468	ENSP00000395606:S460F;ENSP00000270139:S529F;ENSP00000407406:S468F	ENSP00000270139:S529F	S	+	2	0	IFNAR1	33649637	0.928000	0.31464	0.955000	0.39395	0.136000	0.21042	1.134000	0.31442	1.397000	0.46682	0.655000	0.94253	TCC		0.318	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		
DNAJC28	54943	broad.mit.edu	37	21	34860656	34860656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34860656C>A	ENST00000314399.3	-	2	1483	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.E349*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.E349*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	349				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.				p.E349*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TCTGTGACTTCTTTTGTTTTT	0.358																																					p.E349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1045T	21						.						114.0	107.0	109.0					21																	34860656		2203	4300	6503	33782526	SO:0001587	stop_gained	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.1045G>T	21.37:g.34860656C>A	ENSP00000320303:p.Glu349*	Somatic		Capture	Illumina HiSeq	Phase_I	33782526	NM_017833	D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756668	0.69648	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.24	0.693	0.18056	.	0.616646	0.17095	N	0.187214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.1877	6.2745	0.20973	0.0:0.3751:0.4042:0.2207	.	.	.	.	X	349	.	ENSP00000320303:E349X	E	-	1	0	DNAJC28	33782526	0.010000	0.17322	0.172000	0.22920	0.185000	0.23345	1.304000	0.33482	0.295000	0.22570	-0.142000	0.14014	GAA		0.358	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
DNAJC28	54943	broad.mit.edu	37	21	34861111	34861111	+	Missense_Mutation	SNP	G	G	A	rs200167967		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34861111G>A	ENST00000314399.3	-	2	1028	c.590C>T	c.(589-591)aCg>aTg	p.T197M	DNAJC28_ENST00000402202.1_Missense_Mutation_p.T197M|DNAJC28_ENST00000381947.3_Missense_Mutation_p.T197M	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	197								p.T197M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TATAGCTTGCGTTATCTTTTG	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20765	0.0		0.0	False		,,,				2504	0.0				p.T197M												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C590T	21						.						178.0	168.0	171.0					21																	34861111		2203	4300	6503	33782981	SO:0001583	missense	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.590C>T	21.37:g.34861111G>A	ENSP00000320303:p.Thr197Met	Somatic		Capture	Illumina HiSeq	Phase_I	33782981	NM_017833	D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.1	4.094511	0.76870	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.84219	2.685	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.85269	0.1055	9	0.59425	D	0.04	-16.938	17.9044	0.88914	0.0:0.0:1.0:0.0	.	197	Q9NX36	DJC28_HUMAN	M	197	.	ENSP00000320303:T197M	T	-	2	0	DNAJC28	33782981	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	9.181000	0.94874	2.530000	0.85305	0.655000	0.94253	ACG		0.363	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
DNAJC28	54943	broad.mit.edu	37	21	34861550	34861550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34861550C>A	ENST00000314399.3	-	2	589	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.E51*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.E51*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	51	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.							p.E51*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTATAATATTCTCTGATCTTC	0.388																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	21						.						171.0	164.0	166.0					21																	34861550		2203	4300	6503	33783420	SO:0001587	stop_gained	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.151G>T	21.37:g.34861550C>A	ENSP00000320303:p.Glu51*	Somatic		Capture	Illumina HiSeq	Phase_I	33783420	NM_017833	D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	37	6.610266	0.97705	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.59	5.59	0.84812	.	0.155772	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-24.7358	18.3731	0.90413	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000320303:E51X	E	-	1	0	DNAJC28	33783420	1.000000	0.71417	0.927000	0.36925	0.749000	0.42624	4.502000	0.60400	2.643000	0.89663	0.563000	0.77884	GAA		0.388	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
GART	2618	broad.mit.edu	37	21	34901204	34901204	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34901204G>T	ENST00000381831.3	-	8	1026	c.763C>A	c.(763-765)Ctt>Att	p.L255I	GART_ENST00000361093.5_Missense_Mutation_p.L255I|GART_ENST00000381815.4_Missense_Mutation_p.L255I|GART_ENST00000497313.1_5'Flank|GART_ENST00000381839.3_Missense_Mutation_p.L255I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	255	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.L255I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTCCTCTGAAGAACAGTATCT	0.378																																					p.L255I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763A	21						.						108.0	102.0	104.0					21																	34901204		2203	4300	6503	33823074	SO:0001583	missense	2618	exon8			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.763C>A	21.37:g.34901204G>T	ENSP00000371253:p.Leu255Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33823074	NM_001136006	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873346	0.72180	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.31769	1.5;1.5;1.5;1.48	5.41	5.41	0.78517	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	L	0.42529	1.33	0.80722	D	1	P	0.46277	0.875	D	0.68621	0.959	T	0.12477	-1.0546	10	0.02654	T	1	-19.0297	17.3915	0.87432	0.0:0.0:1.0:0.0	.	255	P22102	PUR2_HUMAN	I	255	ENSP00000371236:L255I;ENSP00000371253:L255I;ENSP00000371261:L255I;ENSP00000354388:L255I	ENSP00000354388:L255I	L	-	1	0	GART	33823074	1.000000	0.71417	0.975000	0.42487	0.706000	0.40770	6.746000	0.74866	2.545000	0.85829	0.650000	0.86243	CTT		0.378	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819	
SON	6651	broad.mit.edu	37	21	34925164	34925164	+	Silent	SNP	G	G	A	rs137934017		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34925164G>A	ENST00000356577.4	+	3	4102	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	SON_ENST00000290239.6_Silent_p.S1209S|SON_ENST00000300278.4_Silent_p.S1209S|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S1209S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1209					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1209S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGTCTGTATCGCAGCCTGAGC	0.493																																					p.S1209S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3627A	21						.	G	,	0,4406		0,0,2203	146.0	148.0	147.0		3627,3627	-2.3	0.1	21	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SON	NM_032195.1,NM_138927.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1209/2304,1209/2427	34925164	1,13005	2203	4300	6503	33847034	SO:0001819	synonymous_variant	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3627G>A	21.37:g.34925164G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33847034	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	1.611	-0.523922	0.04141	0.0	1.16E-4	ENSG00000159140	ENST00000436227	.	.	.	5.12	-2.26	0.06867	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.48185	D	0.999609	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	.	1.474	0.02422	0.3993:0.1347:0.3298:0.1361	.	.	.	.	H	204	.	.	R	+	2	0	SON	33847034	0.000000	0.05858	0.081000	0.20488	0.441000	0.31987	-0.974000	0.03794	-0.742000	0.04790	-0.244000	0.11960	CGC		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
DONSON	29980	broad.mit.edu	37	21	34953638	34953638	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34953638A>C	ENST00000303071.5	-	8	1386	c.1320T>G	c.(1318-1320)gcT>gcG	p.A440A	DONSON_ENST00000432378.1_Silent_p.A440A|DONSON_ENST00000453626.1_Silent_p.A440A|DONSON_ENST00000303113.6_Silent_p.A426A	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	440					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.A440A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CACCTCGGAAAGCAACAGGGG	0.383																																					p.A440A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1320G	21						.						73.0	74.0	74.0					21																	34953638		2203	4300	6503	33875508	SO:0001819	synonymous_variant	29980	exon8			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1320T>G	21.37:g.34953638A>C		Somatic		Capture	Illumina HiSeq	Phase_I	33875508	NM_017613	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Silent	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.66|10.66	1.413609|1.413609	0.25465|0.25465	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000440810|ENST00000437395	.|.	.|.	.|.	5.44|5.44	-0.417|-0.417	0.12347|0.12347	.|.	.|.	.|.	.|.	.|.	T|T	0.43211|0.43211	0.1237|0.1237	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24083|0.24083	-1.0170|-1.0170	4|4	.|.	.|.	.|.	-22.638|-22.638	3.439|3.439	0.07457|0.07457	0.5432:0.0:0.1866:0.2701|0.5432:0.0:0.1866:0.2701	.|.	.|.	.|.	.|.	V|R	212|411	.|.	.|.	F|L	-|-	1|2	0|0	DONSON|DONSON	33875508|33875508	0.957000|0.957000	0.32711|0.32711	0.991000|0.991000	0.47740|0.47740	0.971000|0.971000	0.66376|0.66376	0.188000|0.188000	0.17018|0.17018	-0.006000|-0.006000	0.14370|0.14370	0.377000|0.377000	0.23210|0.23210	TTT|CTT		0.383	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	
ITSN1	6453	broad.mit.edu	37	21	35144571	35144571	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:35144571C>T	ENST00000381318.3	+	12	1537	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	ITSN1_ENST00000399326.3_Missense_Mutation_p.R417W|ITSN1_ENST00000399352.1_Missense_Mutation_p.R417W|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.R417W|ITSN1_ENST00000379960.5_Missense_Mutation_p.R417W|ITSN1_ENST00000399355.2_Missense_Mutation_p.R417W|ITSN1_ENST00000399338.4_Missense_Mutation_p.R417W|ITSN1_ENST00000437442.2_Missense_Mutation_p.R417W|ITSN1_ENST00000399353.1_Missense_Mutation_p.R380W|ITSN1_ENST00000399367.3_Missense_Mutation_p.R417W|ITSN1_ENST00000381285.4_Missense_Mutation_p.R417W|ITSN1_ENST00000399349.1_Missense_Mutation_p.R417W|ITSN1_ENST00000488166.1_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	417	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R417W(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ggaaaagcagcgggagctaga	0.592																																					p.R417W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1249T	21						.						54.0	58.0	56.0					21																	35144571		2202	4298	6500	34066441	SO:0001583	missense	6453	exon12			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1249C>T	21.37:g.35144571C>T	ENSP00000370719:p.Arg417Trp	Somatic		Capture	Illumina HiSeq	Phase_I	34066441	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348127	0.61183	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	1.51;0.61;0.66;0.61;1.51;1.51;0.63;1.51;0.91;1.51;1.51;1.51;1.51	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.99;0.99;0.99;0.99;0.996;0.998;0.99;0.99;0.996;0.99	T	0.73110	-0.4086	10	0.87932	D	0	.	14.38	0.66905	0.1485:0.8515:0.0:0.0	.	380;380;380;417;417;417;417;417;417;380	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	W	380;417;417;417;417;417;417;417;417;417;357;417;417;417;417	ENSP00000382290:R380W;ENSP00000370719:R417W;ENSP00000370691:R417W;ENSP00000370685:R417W;ENSP00000382301:R417W;ENSP00000382289:R417W;ENSP00000382292:R417W;ENSP00000382286:R417W;ENSP00000370683:R357W;ENSP00000382275:R417W;ENSP00000387377:R417W;ENSP00000382265:R417W;ENSP00000369294:R417W	ENSP00000369294:R417W	R	+	1	2	ITSN1	34066441	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.027000	0.49697	2.466000	0.83321	0.455000	0.32223	CGG		0.592	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ATP5O	539	broad.mit.edu	37	21	35276252	35276252	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:35276252T>G	ENST00000290299.2	-	6	731	c.515A>C	c.(514-516)aAa>aCa	p.K172T	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	172					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.K172T(1)		large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						AGCCTCCAATTTCAATACTTG	0.353																																					p.K172T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A515C	21						.						104.0	100.0	101.0					21																	35276252		2203	4300	6503	34198122	SO:0001583	missense	539	exon6			AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.515A>C	21.37:g.35276252T>G	ENSP00000290299:p.Lys172Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34198122	NM_001697	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	CCDS13634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.089223|3.089223	0.55968|0.55968	.|.	.|.	ENSG00000241837|ENSG00000241837	ENST00000418933|ENST00000290299	.|T	.|0.47528	.|0.84	5.68|5.68	5.68|5.68	0.88126|0.88126	.|ATPase, F1 complex, OSCP/delta subunit, conserved site (1);	.|0.082729	.|0.85682	.|D	.|0.000000	T|T	0.50205|0.50205	0.1602|0.1602	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|P	.|0.38863	.|0.65	.|B	.|0.40982	.|0.345	T|T	0.49744|0.49744	-0.8907|-0.8907	5|10	.|0.37606	.|T	.|0.19	0.2705|0.2705	15.5825|15.5825	0.76455|0.76455	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|172	.|P48047	.|ATPO_HUMAN	D|T	67|172	.|ENSP00000290299:K172T	.|ENSP00000290299:K172T	E|K	-|-	3|2	2|0	ATP5O|ATP5O	34198122|34198122	1.000000|1.000000	0.71417|0.71417	0.711000|0.711000	0.30485|0.30485	0.691000|0.691000	0.40173|0.40173	7.018000|7.018000	0.76406|0.76406	2.156000|2.156000	0.67533|0.67533	0.459000|0.459000	0.35465|0.35465	GAA|AAA		0.353	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	NM_001697	
KCNE1	3753	broad.mit.edu	37	21	35821628	35821628	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:35821628C>T	ENST00000337385.3	-	3	680	c.305G>A	c.(304-306)aGc>aAc	p.S102N	KCNE1_ENST00000399284.1_Missense_Mutation_p.S102N|KCNE1_ENST00000432085.1_Missense_Mutation_p.S102N|KCNE1_ENST00000416357.2_Missense_Mutation_p.S102N|KCNE1_ENST00000399286.2_Missense_Mutation_p.S102N|KCNE1_ENST00000399289.3_Missense_Mutation_p.S102N	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	102					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)	p.S102N(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CGACCTGTAGCTCTCCAGGAC	0.552																																					p.S102N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	21						.						115.0	122.0	119.0					21																	35821628		2203	4300	6503	34743498	SO:0001583	missense	3753	exon3			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.305G>A	21.37:g.35821628C>T	ENSP00000337255:p.Ser102Asn	Somatic		Capture	Illumina HiSeq	Phase_I	34743498	NM_001127668	A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159774	0.06502	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	4.94	4.05	0.47172	.	0.297343	0.33732	N	0.004614	D	0.86986	0.6065	L	0.28115	0.83	0.33861	D	0.633794	B	0.02656	0.0	B	0.04013	0.001	T	0.80598	-0.1311	10	0.13108	T	0.6	-35.6659	6.398	0.21622	0.0:0.6746:0.0:0.3254	.	102	P15382	KCNE1_HUMAN	N	102	ENSP00000382228:S102N;ENSP00000337255:S102N;ENSP00000412498:S102N;ENSP00000382226:S102N;ENSP00000416258:S102N;ENSP00000382225:S102N	ENSP00000337255:S102N	S	-	2	0	KCNE1	34743498	0.958000	0.32768	0.998000	0.56505	0.058000	0.15608	-0.019000	0.12546	1.065000	0.40693	0.591000	0.81541	AGC		0.552	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1		
RCAN1	1827	broad.mit.edu	37	21	35899025	35899025	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:35899025T>C	ENST00000313806.4	-	2	383				RCAN1_ENST00000482533.1_5'Flank|RCAN1_ENST00000487990.1_Intron|RCAN1_ENST00000492600.1_Missense_Mutation_p.Y8C|RCAN1_ENST00000381135.3_5'Flank|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000489903.1_Intron|RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000481448.1_5'UTR|RCAN1_ENST00000381132.2_Missense_Mutation_p.Y8C	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1						blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y8C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCTAAAACTGTAGTTAAAGTT	0.423																																					p.Y8C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A23G	21						.						83.0	76.0	78.0					21																	35899025		2203	4300	6503	34820895	SO:0001627	intron_variant	1827	exon1				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.253-3017A>G	21.37:g.35899025T>C		Somatic		Capture	Illumina HiSeq	Phase_I	34820895	NM_203418	D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293815	0.60086	.	.	ENSG00000159200	ENST00000381132	.	.	.	6.06	3.64	0.41730	.	.	.	.	.	T	0.37839	0.1018	N	0.16368	0.405	0.80722	D	1	B;B	0.20887	0.049;0.0	B;B	0.17433	0.018;0.0	T	0.09422	-1.0675	8	0.35671	T	0.21	.	7.9516	0.30019	0.1226:0.0668:0.0:0.8106	.	8;8	B7Z1F0;Q6FGP2	.;.	C	8	.	ENSP00000370524:Y8C	Y	-	2	0	RCAN1	34820895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.048000	0.41278	0.492000	0.27815	0.533000	0.62120	TAC		0.423	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1		
TTC3	7267	broad.mit.edu	37	21	38467731	38467731	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38467731G>T	ENST00000399017.2	+	9	3516	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.A257S|TTC3_ENST00000355666.1_Missense_Mutation_p.A257S|TTC3_ENST00000354749.2_Missense_Mutation_p.A257S|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	257					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A257S(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTACACCAGAGCCATTGAATA	0.333																																					p.A257S	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769T	21						.						64.0	70.0	68.0					21																	38467731		2203	4298	6501	37389601	SO:0001583	missense	7267	exon9			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.769G>T	21.37:g.38467731G>T	ENSP00000381981:p.Ala257Ser	Somatic		Capture	Illumina HiSeq	Phase_I	37389601	NM_003316	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468906	0.84533	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.53938	D	0.000051	D	0.86694	0.5994	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87998	0.2754	10	0.72032	D	0.01	-11.1904	16.3342	0.83052	0.0:0.0:1.0:0.0	.	257	P53804	TTC3_HUMAN	S	257;257;239;257;257;257;257	ENSP00000403943:A257S;ENSP00000408456:A257S;ENSP00000391891:A239S;ENSP00000347889:A257S;ENSP00000381974:A257S;ENSP00000381981:A257S;ENSP00000346791:A257S	ENSP00000346791:A257S	A	+	1	0	TTC3	37389601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.339000	0.65953	2.673000	0.90976	0.650000	0.86243	GCC		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38516848	38516848	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38516848T>C	ENST00000399017.2	+	21	4543	c.1796T>C	c.(1795-1797)tTt>tCt	p.F599S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.F599S|TTC3_ENST00000354749.2_Missense_Mutation_p.F599S|TTC3_ENST00000540756.1_Missense_Mutation_p.F289S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	599					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F599S(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCAATCACTTTGAGAAAGCA	0.348																																					p.F599S	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1796C	21						.						113.0	109.0	111.0					21																	38516848		2203	4300	6503	37438718	SO:0001583	missense	7267	exon21			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1796T>C	21.37:g.38516848T>C	ENSP00000381981:p.Phe599Ser	Somatic		Capture	Illumina HiSeq	Phase_I	37438718	NM_003316	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816206	0.70912	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000003	T	0.68787	0.3039	N	0.19112	0.55	0.46078	D	0.99885	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.72792	-0.4186	10	0.87932	D	0	-28.1163	10.5652	0.45169	0.1441:0.0:0.0:0.8559	.	289;599	B4DSZ9;P53804	.;TTC3_HUMAN	S	599;599;581;599;289;599;599	ENSP00000403943:F599S;ENSP00000408456:F599S;ENSP00000391891:F581S;ENSP00000347889:F599S;ENSP00000442875:F289S;ENSP00000381981:F599S;ENSP00000346791:F599S	ENSP00000346791:F599S	F	+	2	0	TTC3	37438718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.934000	0.56553	2.157000	0.67596	0.533000	0.62120	TTT		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38537940	38537940	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38537940A>G	ENST00000399017.2	+	33	6171	c.3424A>G	c.(3424-3426)Act>Gct	p.T1142A	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.T1142A|TTC3_ENST00000354749.2_Missense_Mutation_p.T1142A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1142					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1142A(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCCAGAAGAAACTCGACAGAT	0.398																																					p.T1142A	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3424G	21						.						136.0	150.0	146.0					21																	38537940		2203	4300	6503	37459810	SO:0001583	missense	7267	exon33			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3424A>G	21.37:g.38537940A>G	ENSP00000381981:p.Thr1142Ala	Somatic		Capture	Illumina HiSeq	Phase_I	37459810	NM_003316	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	6.952	0.545557	0.13312	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.09538	2.98;2.97;3.32;3.32;3.32	4.75	4.75	0.60458	.	0.087086	0.49916	D	0.000132	T	0.19685	0.0473	L	0.39898	1.24	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.04551	-1.0943	10	0.20519	T	0.43	-22.9448	9.4081	0.38473	0.9142:0.0:0.0858:0.0	.	200;1142	Q5GIT6;P53804	.;TTC3_HUMAN	A	1142;1124;1142;1142;1142	ENSP00000403943:T1142A;ENSP00000391891:T1124A;ENSP00000347889:T1142A;ENSP00000381981:T1142A;ENSP00000346791:T1142A	ENSP00000346791:T1142A	T	+	1	0	TTC3	37459810	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.068000	0.41471	1.904000	0.55121	0.482000	0.46254	ACT		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38555121	38555121	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38555121G>A	ENST00000399017.2	+	36	7410	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K	TTC3_ENST00000355666.1_Missense_Mutation_p.E1555K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.E1555K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1555					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1555K(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTGGAAAGAGAAATTAAAAA	0.269																																					p.E1555K	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4663A	21						.						21.0	23.0	22.0					21																	38555121		2171	4281	6452	37476991	SO:0001583	missense	7267	exon36			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4663G>A	21.37:g.38555121G>A	ENSP00000381981:p.Glu1555Lys	Somatic		Capture	Illumina HiSeq	Phase_I	37476991	NM_003316	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680117	0.88542	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.09723	2.95;2.95;2.95	5.54	5.54	0.83059	.	0.080760	0.52532	D	0.000063	T	0.27765	0.0683	L	0.55834	1.745	0.80722	D	1	P;D	0.69078	0.846;0.997	P;D	0.75020	0.806;0.985	T	0.00215	-1.1911	10	0.27785	T	0.31	-23.3833	16.7362	0.85447	0.0:0.0:1.0:0.0	.	613;1555	Q5GIT6;P53804	.;TTC3_HUMAN	K	1555	ENSP00000347889:E1555K;ENSP00000381981:E1555K;ENSP00000346791:E1555K	ENSP00000346791:E1555K	E	+	1	0	TTC3	37476991	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.119000	0.50422	2.767000	0.95098	0.591000	0.81541	GAA		0.269	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38573792	38573792	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38573792C>T	ENST00000399017.2	+	46	8742	c.5995C>T	c.(5995-5997)Cgt>Tgt	p.R1999C	TTC3_ENST00000355666.1_Missense_Mutation_p.R1999C|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R1999C	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1999					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1999C(2)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTGCCAGGGTCGTGATCTCCT	0.512																																					p.R1999C	Ovarian(38;194 1649 35661)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C5995T	21						.						70.0	71.0	70.0					21																	38573792		2203	4300	6503	37495662	SO:0001583	missense	7267	exon46			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5995C>T	21.37:g.38573792C>T	ENSP00000381981:p.Arg1999Cys	Somatic		Capture	Illumina HiSeq	Phase_I	37495662	NM_003316	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.377353|1.377353	0.24944|0.24944	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	T;T;T|.	0.09350|.	2.99;2.99;2.99|.	4.27|4.27	0.0307|0.0307	0.14168|0.14168	.|.	1.300580|.	0.05303|.	N|.	0.523304|.	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|5	0.44086|.	T|.	0.13|.	3.9985|3.9985	0.5599|0.5599	0.00677|0.00677	0.1809:0.3241:0.242:0.253|0.1809:0.3241:0.242:0.253	.|.	1999|.	P53804|.	TTC3_HUMAN|.	C|L	1999|290	ENSP00000347889:R1999C;ENSP00000381981:R1999C;ENSP00000346791:R1999C|.	ENSP00000346791:R1999C|.	R|S	+|+	1|2	0|0	TTC3|TTC3	37495662|37495662	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-0.502000|-0.502000	0.06390|0.06390	0.103000|0.103000	0.17682|0.17682	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.512	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
DYRK1A	1859	broad.mit.edu	37	21	38884217	38884217	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38884217C>T	ENST00000398960.2	+	11	1750	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	DYRK1A_ENST00000398956.2_Missense_Mutation_p.A517V|DYRK1A_ENST00000339659.4_Missense_Mutation_p.R550C|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331C|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	559					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.R559C(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTTCAGGTGCGTCAGCAATT	0.408																																					p.R559C	Melanoma(114;464 1602 31203 43785 45765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1675T	21						.						68.0	65.0	66.0					21																	38884217		2203	4300	6503	37806087	SO:0001583	missense	1859	exon11			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1675C>T	21.37:g.38884217C>T	ENSP00000381932:p.Arg559Cys	Somatic		Capture	Illumina HiSeq	Phase_I	37806087	NM_001396	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.873831|2.873831	0.51695|0.51695	.|.	.|.	ENSG00000157540|ENSG00000157540	ENST00000398956|ENST00000339659;ENST00000398960;ENST00000455387	T|T;T;T	0.56444|0.57436	0.46|0.4;0.4;0.93	5.54|5.54	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70710|0.70710	0.3255|0.3255	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D;D	0.25743|0.89917	0.133|1.0;1.0	B|D;D	0.21917|0.76575	0.037|0.973;0.988	T|T	0.71537|0.71537	-0.4563|-0.4563	8|9	0.29301|0.39692	T|T	0.29|0.17	.|.	14.3306|14.3306	0.66553|0.66553	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	517|559;550	Q13627-3|Q13627;Q13627-2	.|DYR1A_HUMAN;.	V|C	517|550;559;331	ENSP00000381929:A517V|ENSP00000340373:R550C;ENSP00000381932:R559C;ENSP00000407854:R331C	ENSP00000381929:A517V|ENSP00000340373:R550C	A|R	+|+	2|1	0|0	DYRK1A|DYRK1A	37806087|37806087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.005000|0.005000	0.04900|0.04900	5.816000|5.816000	0.69222|0.69222	1.350000|1.350000	0.45770|0.45770	-0.136000|-0.136000	0.14681|0.14681	GCG|CGT		0.408	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
LCA5L	150082	broad.mit.edu	37	21	40778146	40778146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:40778146G>A	ENST00000358268.2	-	10	2203	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000380671.2_Missense_Mutation_p.L559F|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.L559F			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	559								p.L559F(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTGTTACTGAGATGCTTGCCT	0.473																																					p.L559F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1675T	21						.						130.0	124.0	126.0					21																	40778146		2203	4300	6503	39700016	SO:0001583	missense	150082	exon10			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1675C>T	21.37:g.40778146G>A	ENSP00000351008:p.Leu559Phe	Somatic		Capture	Illumina HiSeq	Phase_I	39700016	NM_152505	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179559	0.21787	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.55588	0.51;0.51;0.51	4.92	1.83	0.25207	.	1.710450	0.02998	N	0.147813	T	0.41166	0.1147	L	0.29908	0.895	0.09310	N	1	B	0.29188	0.236	B	0.28849	0.095	T	0.20739	-1.0266	10	0.09843	T	0.71	0.2136	9.6396	0.39831	0.0:0.2894:0.5609:0.1497	.	559	O95447	LCA5L_HUMAN	F	559	ENSP00000288350:L559F;ENSP00000370046:L559F;ENSP00000351008:L559F	ENSP00000288350:L559F	L	-	1	0	LCA5L	39700016	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.131000	0.31406	0.567000	0.29293	-0.165000	0.13383	CTC		0.473	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
SH3BGR	6450	broad.mit.edu	37	21	40824020	40824020	+	Missense_Mutation	SNP	G	G	A	rs201095110		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:40824020G>A	ENST00000333634.4	+	1	265	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380634.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	63					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.E63K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TCCAACTGTCGAAATGGTTAT	0.502																																					p.E63K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	21						.						228.0	214.0	219.0					21																	40824020		2203	4300	6503	39745890	SO:0001583	missense	6450	exon1				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.187G>A	21.37:g.40824020G>A	ENSP00000332513:p.Glu63Lys	Somatic		Capture	Illumina HiSeq	Phase_I	39745890	NM_007341	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815962	0.50527	.	.	ENSG00000185437	ENST00000333634	T	0.76578	-1.03	5.75	0.287	0.15714	Thioredoxin-like fold (1);	0.760089	0.12373	N	0.474588	T	0.53706	0.1813	N	0.08118	0	0.24123	N	0.995798	B	0.10296	0.003	B	0.04013	0.001	T	0.34030	-0.9845	10	0.15499	T	0.54	.	8.8082	0.34952	0.4586:0.0:0.5414:0.0	.	63	P55822	SH3BG_HUMAN	K	63	ENSP00000332513:E63K	ENSP00000332513:E63K	E	+	1	0	SH3BGR	39745890	0.973000	0.33851	0.805000	0.32314	0.968000	0.65278	0.739000	0.26173	0.024000	0.15214	-0.126000	0.14955	GAA		0.502	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341	
B3GALT5	10317	broad.mit.edu	37	21	41032935	41032935	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:41032935C>T	ENST00000380620.4	+	5	1041	c.449C>T	c.(448-450)gCg>gTg	p.A150V	B3GALT5_ENST00000398714.2_Missense_Mutation_p.A150V|B3GALT5_ENST00000380618.1_Missense_Mutation_p.A150V|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A150V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	150					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A150V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CCTCAGGCGGCGTTTGTGATG	0.443																																					p.A150V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C449T	21						.						102.0	97.0	99.0					21																	41032935		2203	4300	6503	39954805	SO:0001583	missense	10317	exon4			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.449C>T	21.37:g.41032935C>T	ENSP00000369994:p.Ala150Val	Somatic		Capture	Illumina HiSeq	Phase_I	39954805	NM_033171	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	C	8.856	0.945689	0.18356	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.72	2.54	0.30619	.	0.771452	0.11891	N	0.519565	T	0.78528	0.4297	L	0.48362	1.52	0.09310	N	1	P	0.50443	0.935	B	0.41135	0.348	T	0.65071	-0.6257	10	0.30078	T	0.28	.	8.2956	0.31984	0.2945:0.3095:0.3959:0.0	.	150	Q9Y2C3	B3GT5_HUMAN	V	150	ENSP00000369994:A150V;ENSP00000369992:A150V;ENSP00000343318:A150V;ENSP00000381699:A150V	ENSP00000343318:A150V	A	+	2	0	B3GALT5	39954805	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	0.445000	0.21677	0.720000	0.32209	0.655000	0.94253	GCG		0.443	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
DSCAM	1826	broad.mit.edu	37	21	41427665	41427665	+	Silent	SNP	C	C	T	rs141507048	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:41427665C>T	ENST00000400454.1	-	29	5499	c.5022G>A	c.(5020-5022)acG>acA	p.T1674T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1674					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T1674T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGTCTCCATCGTGTCTCTCT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		17588	0.0		0.001	False		,,,				2504	0.001				p.T1674T	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5022A	21						.						165.0	164.0	164.0					21																	41427665		1947	4149	6096	40349535	SO:0001819	synonymous_variant	1826	exon29			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5022G>A	21.37:g.41427665C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40349535	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41561123	41561123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:41561123G>A	ENST00000400454.1	-	12	2876	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	800	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T800M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCCCCTGCGTGGCCAGGGT	0.502																																					p.T800M	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2399T	21						.						88.0	88.0	88.0					21																	41561123		1995	4158	6153	40482993	SO:0001583	missense	1826	exon12			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2399C>T	21.37:g.41561123G>A	ENSP00000383303:p.Thr800Met	Somatic		Capture	Illumina HiSeq	Phase_I	40482993	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719795	0.30503	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67865	-0.29;-0.29	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055071	0.64402	D	0.000001	T	0.70404	0.3220	L	0.31752	0.955	0.43617	D	0.995994	D	0.65815	0.995	P	0.57371	0.819	T	0.71656	-0.4527	10	0.46703	T	0.11	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	800	O60469	DSCAM_HUMAN	M	800;552	ENSP00000383303:T800M;ENSP00000385342:T552M	ENSP00000383303:T800M	T	-	2	0	DSCAM	40482993	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	6.310000	0.72830	2.441000	0.82636	0.561000	0.74099	ACG		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41710181	41710181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:41710181G>A	ENST00000400454.1	-	8	2107	c.1630C>T	c.(1630-1632)Ctt>Ttt	p.L544F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	544	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L544F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAAAGGAAGCAGGTTAGAG	0.448																																					p.L544F	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1630T	21						.						184.0	174.0	177.0					21																	41710181		1951	4142	6093	40632051	SO:0001583	missense	1826	exon8			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1630C>T	21.37:g.41710181G>A	ENSP00000383303:p.Leu544Phe	Somatic		Capture	Illumina HiSeq	Phase_I	40632051	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775746	0.90195	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.72394	-0.65;-0.65	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87928	0.2708	10	0.87932	D	0	.	19.9703	0.97284	0.0:0.0:1.0:0.0	.	544	O60469	DSCAM_HUMAN	F	544;296	ENSP00000383303:L544F;ENSP00000385342:L296F	ENSP00000383303:L544F	L	-	1	0	DSCAM	40632051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.569000	0.73992	2.723000	0.93209	0.655000	0.94253	CTT		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
BACE2	25825	broad.mit.edu	37	21	42551540	42551540	+	Intron	SNP	G	G	A	rs200294356	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:42551540G>A	ENST00000330333.6	+	1	775				BACE2-IT1_ENST00000433378.1_RNA|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000430327.2_RNA|PLAC4_ENST00000414699.1_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGCTTCAGGCGCAGCAACTCT	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20971	0.0		0.0	False		,,,				2504	0.0				p.R6C												.	.	0			c.C16T	21						.	G	,,,CYS/ARG	8,4290		0,8,2141	101.0	95.0	97.0		,,,16	0.9	0.0	21		97	1,8487		0,1,4243	yes	intron,intron,intron,missense	BACE2,PLAC4	NM_012105.3,NM_138991.1,NM_138992.1,NM_182832.2	,,,180	0,9,6384	AA,AG,GG		0.0118,0.1861,0.0704	,,,possibly-damaging	,,,6/151	42551540	9,12777	2149	4244	6393	41473410	SO:0001627	intron_variant	191585	exon1			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+11038G>A	21.37:g.42551540G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41473410	NM_182832	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																				0.483	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
BACE2	25825	broad.mit.edu	37	21	42615327	42615327	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:42615327T>G	ENST00000330333.6	+	5	1235	c.772T>G	c.(772-774)Ttg>Gtg	p.L258V	BACE2_ENST00000347667.5_Missense_Mutation_p.L258V|BACE2_ENST00000328735.6_Missense_Mutation_p.L258V|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	258					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.L258V(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAACCAAGTTTGTATAAAGG	0.388																																					p.L258V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T772G	21						.						97.0	103.0	101.0					21																	42615327		2203	4300	6503	41537197	SO:0001583	missense	25825	exon5			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.772T>G	21.37:g.42615327T>G	ENSP00000332979:p.Leu258Val	Somatic		Capture	Illumina HiSeq	Phase_I	41537197	NM_138991	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.376149	0.61735	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.57907	0.37;0.37;0.37	5.7	-2.28	0.06826	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000004	T	0.66790	0.2825	M	0.76574	2.34	0.49051	D	0.99974	P;D;D	0.76494	0.952;0.999;0.997	D;D;D	0.87578	0.924;0.998;0.998	T	0.65429	-0.6170	10	0.49607	T	0.09	.	12.7029	0.57043	0.0:0.513:0.0:0.487	.	258;258;258	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	V	258;258;258;163	ENSP00000332979:L258V;ENSP00000327528:L258V;ENSP00000333854:L258V	ENSP00000333854:L258V	L	+	1	2	BACE2	41537197	0.793000	0.28825	0.233000	0.24025	0.989000	0.77384	0.343000	0.19944	-0.678000	0.05224	-0.326000	0.08463	TTG		0.388	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
MX2	4600	broad.mit.edu	37	21	42749784	42749784	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:42749784C>A	ENST00000330714.3	+	3	502	c.318C>A	c.(316-318)tcC>tcA	p.S106S	MX2_ENST00000543692.1_Silent_p.S106S	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	106					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S106S(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCATCGACTCCCTGCGGGCTC	0.637																																					p.S106S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318A	21						.						84.0	77.0	79.0					21																	42749784		2203	4300	6503	41671654	SO:0001819	synonymous_variant	4600	exon3				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.318C>A	21.37:g.42749784C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41671654	NM_002463	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	CCDS13672.1																																																																																				0.637	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
MX1	4599	broad.mit.edu	37	21	42807913	42807913	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:42807913C>T	ENST00000398600.2	+	8	1280	c.255C>T	c.(253-255)tcC>tcT	p.S85S	MX1_ENST00000455164.2_Silent_p.S85S|MX1_ENST00000398598.3_Silent_p.S85S|MX1_ENST00000288383.6_Intron	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	85	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S85S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAAGAGCTCCGTGTTGGAGG	0.582																																					p.S85S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C255T	21						.						76.0	77.0	77.0					21																	42807913		2203	4300	6503	41729783	SO:0001819	synonymous_variant	4599	exon8				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.255C>T	21.37:g.42807913C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41729783	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	CCDS13673.1																																																																																				0.582	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
PRDM15	63977	broad.mit.edu	37	21	43222908	43222908	+	Silent	SNP	G	G	A	rs374593622		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43222908G>A	ENST00000269844.3	-	30	4115	c.4005C>T	c.(4003-4005)ggC>ggT	p.G1335G	PRDM15_ENST00000398548.1_Silent_p.G1006G|PRDM15_ENST00000422911.1_Silent_p.G1026G|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.G969G	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G1335G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542																																					p.G1335G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4005T	21						.		,	0,4406		0,0,2203	203.0	199.0	200.0		3018,4005	-5.9	1.0	21		200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1006/1179,1335/1508	43222908	1,13005	2203	4300	6503	42095977	SO:0001819	synonymous_variant	63977	exon30			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4005C>T	21.37:g.43222908G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42095977	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																				0.542	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
PRDM15	63977	broad.mit.edu	37	21	43246402	43246402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43246402G>A	ENST00000269844.3	-	20	2751	c.2641C>T	c.(2641-2643)Cga>Tga	p.R881*	PRDM15_ENST00000398548.1_Nonsense_Mutation_p.R552*|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.R572*|PRDM15_ENST00000538201.1_Nonsense_Mutation_p.R535*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.R515*	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R881*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTTCACTCGCCGCACTCCT	0.572																																					p.R881X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2641T	21						.						75.0	67.0	69.0					21																	43246402		2203	4300	6503	42119471	SO:0001587	stop_gained	63977	exon20			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2641C>T	21.37:g.43246402G>A	ENSP00000269844:p.Arg881*	Somatic		Capture	Illumina HiSeq	Phase_I	42119471	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	40	8.212998	0.98709	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.	.	.	5.3	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-15.027	13.8271	0.63357	0.0:0.0:0.8464:0.1536	.	.	.	.	X	572;552;535;515;881	.	ENSP00000269844:R881X	R	-	1	2	PRDM15	42119471	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.731000	0.55013	2.480000	0.83734	0.454000	0.30748	CGA		0.572	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
PRDM15	63977	broad.mit.edu	37	21	43277345	43277345	+	Silent	SNP	G	G	A	rs112850683		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43277345G>A	ENST00000269844.3	-	11	1433	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	PRDM15_ENST00000398548.1_Silent_p.F112F|PRDM15_ENST00000422911.1_Silent_p.F112F|PRDM15_ENST00000538201.1_Silent_p.F75F|PRDM15_ENST00000447207.2_Silent_p.F75F	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	441	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.F441F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CAAAGGGACCGAACTGTGTCC	0.552																																					p.F441F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323T	21						.						90.0	91.0	90.0					21																	43277345		2203	4300	6503	42150414	SO:0001819	synonymous_variant	63977	exon11			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1323C>T	21.37:g.43277345G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42150414	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																				0.552	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
ZBTB21	49854	broad.mit.edu	37	21	43413596	43413596	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43413596T>G	ENST00000310826.5	-	3	792	c.609A>C	c.(607-609)ttA>ttC	p.L203F	ZBTB21_ENST00000398511.3_Missense_Mutation_p.L203F|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L203F|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L203F|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	203					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.L203F(1)									TCTTTTCAGTTAATGACAAAT	0.408																																					p.L203F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A609C	21						.						132.0	132.0	132.0					21																	43413596		2203	4300	6503	42286665	SO:0001583	missense	49854	exon3			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.609A>C	21.37:g.43413596T>G	ENSP00000308759:p.Leu203Phe	Somatic		Capture	Illumina HiSeq	Phase_I	42286665	NM_001098403	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593928	0.66219	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08458	3.28;3.09;3.09;3.09	5.8	-9.68	0.00528	.	0.911233	0.09210	N	0.833378	T	0.07773	0.0195	L	0.60455	1.87	0.09310	N	1	B;B	0.21753	0.06;0.015	B;B	0.20577	0.03;0.01	T	0.29912	-0.9996	10	0.46703	T	0.11	-0.356	10.7313	0.46098	0.0:0.3664:0.4393:0.1943	.	203;203	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	F	203	ENSP00000381517:L203F;ENSP00000308759:L203F;ENSP00000381512:L203F;ENSP00000381523:L203F	ENSP00000308759:L203F	L	-	3	2	ZNF295	42286665	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	-2.235000	0.01202	-1.564000	0.01678	-0.250000	0.11733	TTA		0.408	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000398437.1_Silent_p.F752F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000347800.2_Silent_p.F591F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587																																					p.F605F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C1815T	21						.						110.0	90.0	97.0					21																	43716283		2203	4300	6503	42589352	SO:0001819	synonymous_variant	9619	exon15			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1818C>T	21.37:g.43716283C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42589352	NM_207174	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	CCDS13682.1																																																																																				0.587	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
UBASH3A	53347	broad.mit.edu	37	21	43867292	43867292	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43867292C>A	ENST00000319294.6	+	15	2005	c.1974C>A	c.(1972-1974)atC>atA	p.I658I	UBASH3A_ENST00000398367.1_3'UTR|UBASH3A_ENST00000291535.6_Silent_p.I620I	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	658	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.I658I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAACTGGATCTCAGGCAACT	0.532																																					p.I620I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1860A	21						.						115.0	118.0	117.0					21																	43867292		2203	4300	6503	42740361	SO:0001819	synonymous_variant	53347	exon14			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1974C>A	21.37:g.43867292C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42740361	NM_001001895	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	CCDS13687.1																																																																																				0.532	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
RSPH1	89765	broad.mit.edu	37	21	43902752	43902752	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43902752C>A	ENST00000291536.3	-	6	735	c.568G>T	c.(568-570)Gat>Tat	p.D190Y	RSPH1_ENST00000398352.3_Missense_Mutation_p.D152Y	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	190					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.D190Y(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTTACCATATCTGTTAAACGA	0.408																																					p.D190Y	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568T	21						.						127.0	99.0	109.0					21																	43902752		2203	4300	6503	42775821	SO:0001583	missense	89765	exon6			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.568G>T	21.37:g.43902752C>A	ENSP00000291536:p.Asp190Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42775821	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301976	0.60195	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.61274	0.14;0.12	5.03	5.03	0.67393	.	0.275690	0.39759	N	0.001263	T	0.69958	0.3169	L	0.61218	1.895	0.35401	D	0.791638	D	0.76494	0.999	D	0.65573	0.936	T	0.78336	-0.2243	10	0.66056	D	0.02	.	11.7745	0.51977	0.0:0.9135:0.0:0.0865	.	190	Q8WYR4	RSPH1_HUMAN	Y	190;152	ENSP00000291536:D190Y;ENSP00000381395:D152Y	ENSP00000291536:D190Y	D	-	1	0	RSPH1	42775821	0.419000	0.25449	0.051000	0.19133	0.079000	0.17450	2.019000	0.41001	2.521000	0.84997	0.491000	0.48974	GAT		0.408	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
RSPH1	89765	broad.mit.edu	37	21	43913111	43913111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:43913111C>T	ENST00000291536.3	-	2	300	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	45					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E45K(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TAGCTCCCTTCGTAGGTGTCC	0.498																																					p.E45K	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	21						.						260.0	230.0	240.0					21																	43913111		2203	4300	6503	42786180	SO:0001583	missense	89765	exon2			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.133G>A	21.37:g.43913111C>T	ENSP00000291536:p.Glu45Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42786180	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406472	0.83230	.	.	ENSG00000160188	ENST00000291536	T	0.60672	0.17	4.94	4.94	0.65067	.	0.148717	0.64402	D	0.000012	T	0.66117	0.2757	L	0.46670	1.46	0.80722	D	1	D	0.67145	0.996	P	0.56042	0.79	T	0.67711	-0.5600	10	0.51188	T	0.08	.	18.5766	0.91157	0.0:1.0:0.0:0.0	.	45	Q8WYR4	RSPH1_HUMAN	K	45	ENSP00000291536:E45K	ENSP00000291536:E45K	E	-	1	0	RSPH1	42786180	0.997000	0.39634	0.761000	0.31378	0.733000	0.41908	3.251000	0.51453	2.467000	0.83353	0.462000	0.41574	GAA		0.498	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
RRP1B	23076	broad.mit.edu	37	21	45094523	45094523	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:45094523C>T	ENST00000340648.4	+	5	481	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	122					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TTAGCTGATTCGTCTGGTCCT	0.353																																					p.R122C												.	.	0			c.C364T	21						.						88.0	80.0	83.0					21																	45094523		2203	4300	6503	43918951	SO:0001583	missense	23076	exon5			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.364C>T	21.37:g.45094523C>T	ENSP00000339145:p.Arg122Cys	Germline		Capture	Illumina HiSeq	Phase_I	43918951	NM_015056	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618078	0.46736	.	.	ENSG00000160208	ENST00000340648	D	0.81908	-1.55	5.53	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94870	0.8029	10	0.87932	D	0	-0.005	12.0797	0.53663	0.0:0.9184:0.0:0.0816	.	122	Q14684	RRP1B_HUMAN	C	122	ENSP00000339145:R122C	ENSP00000339145:R122C	R	+	1	0	RRP1B	43918951	1.000000	0.71417	0.983000	0.44433	0.178000	0.23041	4.647000	0.61418	1.473000	0.48159	-0.157000	0.13467	CGT		0.353	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
RRP1B	23076	broad.mit.edu	37	21	45107407	45107407	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:45107407C>A	ENST00000340648.4	+	13	1269	c.1152C>A	c.(1150-1152)gtC>gtA	p.V384V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	384					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.V384V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAAGCAGAGTCTTTTGTGTAG	0.517																																					p.V384V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152A	21						.						86.0	97.0	94.0					21																	45107407		2021	4094	6115	43931835	SO:0001819	synonymous_variant	23076	exon13			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1152C>A	21.37:g.45107407C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43931835	NM_015056	Q8TBZ4	Silent	SNP	ENST00000340648.4	37	CCDS33577.1																																																																																				0.517	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
TRPM2	7226	broad.mit.edu	37	21	45810864	45810864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:45810864G>T	ENST00000397928.1	+	10	1841	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	TRPM2_ENST00000300481.9_Missense_Mutation_p.D466Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.D466Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D466Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	466					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.D466Y(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAATCGCGTGGACATTGCCCG	0.572																																					p.D466Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396T	21						.						157.0	141.0	146.0					21																	45810864		2203	4300	6503	44635292	SO:0001583	missense	7226	exon10			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1396G>T	21.37:g.45810864G>T	ENSP00000381023:p.Asp466Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	44635292	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440388	0.83993	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.969	D	0.90987	0.4832	10	0.72032	D	0.01	-44.181	17.8022	0.88591	0.0:0.0:1.0:0.0	.	466;466	E9PGK7;O94759	.;TRPM2_HUMAN	Y	466	ENSP00000300482:D466Y;ENSP00000381023:D466Y;ENSP00000300481:D466Y;ENSP00000381026:D466Y	ENSP00000300481:D466Y	D	+	1	0	TRPM2	44635292	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.713000	0.74686	2.282000	0.76494	0.655000	0.94253	GAC		0.572	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
KRTAP10-4	386672	broad.mit.edu	37	21	45993667	45993667	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:45993667G>A	ENST00000400374.3	+	1	62	c.32G>A	c.(31-33)aGc>aAc	p.S11N	TSPEAR_ENST00000397916.1_5'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	11						keratin filament (GO:0045095)		p.S11N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGAGCTACAGCAGCCGCGTC	0.662																																					p.S11N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32A	21						.						81.0	101.0	94.0					21																	45993667		2172	4273	6445	44818095	SO:0001583	missense	386672	exon1			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.32G>A	21.37:g.45993667G>A	ENSP00000383225:p.Ser11Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44818095	NM_198687	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	10.57	1.386242	0.25031	.	.	ENSG00000215454	ENST00000400374	T	0.00705	5.81	4.76	2.49	0.30216	.	.	.	.	.	T	0.00440	0.0014	N	0.03608	-0.345	0.09310	N	1	P	0.49447	0.924	B	0.40134	0.32	T	0.52931	-0.8509	9	0.44086	T	0.13	.	3.5239	0.07752	0.3122:0.1997:0.4881:0.0	.	11	P60372	KR104_HUMAN	N	11	ENSP00000383225:S11N	ENSP00000383225:S11N	S	+	2	0	KRTAP10-4	44818095	0.027000	0.19231	0.007000	0.13788	0.601000	0.36947	0.129000	0.15830	0.326000	0.23384	0.484000	0.47621	AGC		0.662	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
KRTAP10-7	386675	broad.mit.edu	37	21	46020893	46020893	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:46020893C>T	ENST00000380102.2	+	1	397	c.372C>T	c.(370-372)tgC>tgT	p.C124C	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	124	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C124C(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGACTGTCTGCTGCAAGCCTG	0.637																																					p.C119C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	21						.						125.0	124.0	124.0					21																	46020893		2188	4300	6488	44845321	SO:0001819	synonymous_variant	386675	exon2			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.372C>T	21.37:g.46020893C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44845321	NM_198689	Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37																																																																																					0.637	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
KRTAP10-11	386678	broad.mit.edu	37	21	46066867	46066867	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:46066867T>G	ENST00000334670.8	+	1	537	c.492T>G	c.(490-492)gaT>gaG	p.D164E	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	164	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.D164E(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCTCTGAGGATTCCTCTTCAT	0.627																																					p.D164E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T492G	21						.						165.0	168.0	167.0					21																	46066867		2203	4300	6503	44891295	SO:0001583	missense	386678	exon1			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.492T>G	21.37:g.46066867T>G	ENSP00000334197:p.Asp164Glu	Somatic		Capture	Illumina HiSeq	Phase_I	44891295	NM_198692	A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.579055	0.00129	.	.	ENSG00000243489	ENST00000334670	T	0.00627	6.12	2.86	0.808	0.18719	.	.	.	.	.	T	0.00637	0.0021	L	0.46157	1.445	0.09310	N	1	B	0.23128	0.08	B	0.20384	0.029	T	0.44997	-0.9291	9	0.09843	T	0.71	.	5.7176	0.17968	0.0:0.5405:0.0:0.4595	.	164	P60412	KR10B_HUMAN	E	164	ENSP00000334197:D164E	ENSP00000334197:D164E	D	+	3	2	KRTAP10-11	44891295	0.020000	0.18652	0.002000	0.10522	0.025000	0.11179	0.903000	0.28475	0.298000	0.22638	-0.475000	0.04921	GAT		0.627	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692	
POFUT2	23275	broad.mit.edu	37	21	46698081	46698081	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:46698081G>A	ENST00000349485.5	-	5	668	c.642C>T	c.(640-642)tcC>tcT	p.S214S	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.S214S	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	214					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.S214S(3)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTAACATCACGGACCTGTTTT	0.458																																					p.S214S												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C642T	21						.						168.0	164.0	165.0					21																	46698081		2203	4300	6503	45522509	SO:0001819	synonymous_variant	23275	exon5			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.642C>T	21.37:g.46698081G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45522509	NM_133635	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.784950	0.16189	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.18	-8.36	0.00980	.	.	.	.	.	T	0.44787	0.1310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50750	-0.8791	4	.	.	.	-5.9212	6.5609	0.22485	0.6581:0.0:0.1165:0.2254	.	.	.	.	C	137	.	.	R	-	1	0	POFUT2	45522509	0.008000	0.16893	0.919000	0.36401	0.781000	0.44180	-1.394000	0.02518	-1.485000	0.01854	-0.302000	0.09304	CGT		0.458	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	
PCBP3	54039	broad.mit.edu	37	21	47321009	47321009	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:47321009C>T	ENST00000400314.1	+	7	659	c.321C>T	c.(319-321)atC>atT	p.I107I	PCBP3_ENST00000400308.1_Silent_p.I107I|PCBP3_ENST00000449640.1_Silent_p.I107I|PCBP3_ENST00000400310.1_Silent_p.I107I|PCBP3_ENST00000400309.1_Silent_p.I107I|PCBP3_ENST00000400304.1_Silent_p.I75I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	107					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I75I(1)|p.I107I(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTGCCATGATCGCATACAAGT	0.597																																					p.I107I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C321T	21						.						115.0	124.0	121.0					21																	47321009		2032	4171	6203	46145437	SO:0001819	synonymous_variant	54039	exon5			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.321C>T	21.37:g.47321009C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46145437	NM_020528	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	CCDS42974.2																																																																																				0.597	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		
PCNT	5116	broad.mit.edu	37	21	47767388	47767388	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:47767388T>C	ENST00000359568.5	+	6	1101	c.994T>C	c.(994-996)Tta>Cta	p.L332L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	332	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.L332L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAGGAGAAGTTACAATCAGA	0.473																																					p.L332L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T994C	21						.						133.0	130.0	131.0					21																	47767388		2203	4300	6503	46591816	SO:0001819	synonymous_variant	5116	exon6			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.994T>C	21.37:g.47767388T>C		Somatic		Capture	Illumina HiSeq	Phase_I	46591816	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.473	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
TPTE	7179	broad.mit.edu	37	21	10916377	10916377	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:10916377C>T	ENST00000361285.4	-	20	1598	c.1269G>A	c.(1267-1269)tcG>tcA	p.S423S	TPTE_ENST00000298232.7_Silent_p.S405S|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.S385S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S405S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACGAGGAATCGAATAAATAA	0.388																																					p.S423S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1269A	21						.						112.0	99.0	104.0					21																	10916377		2203	4300	6503	9938248	SO:0001819	synonymous_variant	7179	exon20			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1269G>A	21.37:g.10916377C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9938248	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																				0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10920109	10920109	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:10920109A>C	ENST00000361285.4	-	19	1474	c.1145T>G	c.(1144-1146)tTt>tGt	p.F382C	TPTE_ENST00000298232.7_Missense_Mutation_p.F364C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F344C	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	382	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F364C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCCCTGAAATTTTTCGCT	0.378																																					p.F382C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1145G	21						.						91.0	88.0	89.0					21																	10920109		2203	4300	6503	9941980	SO:0001583	missense	7179	exon19			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1145T>G	21.37:g.10920109A>C	ENSP00000355208:p.Phe382Cys	Somatic		Capture	Illumina HiSeq	Phase_I	9941980	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.597	0.885909	0.17540	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.90261	-2.64;-2.64;-2.64	2.32	-0.873	0.10635	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.173869	0.51477	D	0.000097	D	0.93631	0.7966	M	0.87038	2.855	0.46458	D	0.999052	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.982;0.987;0.992	D	0.90329	0.4350	10	0.72032	D	0.01	-22.1995	4.5942	0.12322	0.4602:0.0:0.0:0.5398	.	344;364;382	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	C	364;382;344	ENSP00000298232:F364C;ENSP00000355208:F382C;ENSP00000344441:F344C	ENSP00000298232:F364C	F	-	2	0	TPTE	9941980	1.000000	0.71417	0.830000	0.32933	0.115000	0.19883	0.434000	0.21494	0.124000	0.18369	0.155000	0.16302	TTT		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10934954	10934954	+	Missense_Mutation	SNP	C	C	T	rs532485045		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:10934954C>T	ENST00000361285.4	-	15	1168	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TPTE_ENST00000298232.7_Missense_Mutation_p.R262Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R242Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262Q(1)|p.R262L(1)|p.R280L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTGTAGACTCGATAGTGGTT	0.333													.|||	1	0.000199681	0.0008	0.0	5008	,	,		49948	0.0		0.0	False		,,,				2504	0.0				p.R280Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G839A	21						.						267.0	237.0	247.0					21																	10934954		2203	4300	6503	9956825	SO:0001583	missense	7179	exon15			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.839G>A	21.37:g.10934954C>T	ENSP00000355208:p.Arg280Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9956825	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.250	-0.153497	0.06585	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98602	-5.02;-5.02;-5.02	2.25	-3.65	0.04502	Phosphatase tensin type (1);	0.370901	0.27739	N	0.018043	D	0.90577	0.7046	N	0.16233	0.39	0.21841	N	0.99951	B;B;P	0.35542	0.261;0.261;0.508	B;B;B	0.26416	0.019;0.019;0.069	D	0.87346	0.2334	10	0.30854	T	0.27	-0.3035	3.1876	0.06606	0.2135:0.4408:0.0:0.3456	.	242;262;280	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	262;280;242	ENSP00000298232:R262Q;ENSP00000355208:R280Q;ENSP00000344441:R242Q	ENSP00000298232:R262Q	R	-	2	0	TPTE	9956825	1.000000	0.71417	0.017000	0.16124	0.161000	0.22273	0.533000	0.23082	-0.865000	0.04073	0.194000	0.17425	CGA		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10971353	10971353	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:10971353A>G	ENST00000361285.4	-	5	341				TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACTAAAGGACAAATATGGT	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						119.0	98.0	105.0					21																	10971353		2203	4300	6503	9993224	SO:0001627	intron_variant	7179	.			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.12-8T>C	21.37:g.10971353A>G		Somatic		Capture	Illumina HiSeq	Phase_I	9993224	.	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Intron	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																				0.428	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
CXADR	1525	broad.mit.edu	37	21	18924066	18924066	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:18924066G>T	ENST00000284878.7	+	3	958		c.e3-1		CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Splice_Site|CXADR_ENST00000400169.1_Splice_Site|CXADR_ENST00000306618.10_Splice_Site|CXADR_ENST00000400165.1_Splice_Site	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor						actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.?(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTTTCTTTTAGATTATTTTAT	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						29.0	28.0	28.0					21																	18924066		2202	4297	6499	17845937	SO:0001630	splice_region_variant	1525	.			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.211-1G>T	21.37:g.18924066G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17845937	.	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Splice_Site	SNP	ENST00000284878.7	37	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616518	0.66672	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9401	0.89024	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXADR	17845937	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.105000	0.94246	2.625000	0.88918	0.655000	0.94253	.		0.378	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		Intron
TIAM1	7074	broad.mit.edu	37	21	32502641	32502641	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:32502641G>T	ENST00000286827.3	-	26	4414				TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCTGCAGAGGAGAAGGAAC	0.522																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	21						.						90.0	89.0	89.0					21																	32502641		2203	4300	6503	31424512	SO:0001627	intron_variant	7074	.				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3943-8C>A	21.37:g.32502641G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31424512	.	B7ZLR6|F5GZ53|Q17RT7	Intron	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
EVA1C	59271	broad.mit.edu	37	21	33840160	33840160	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:33840160T>C	ENST00000300255.2	+	4	1107				EVA1C_ENST00000401402.3_Intron|EVA1C_ENST00000382699.3_Intron	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)							integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.?(1)									CCTTTCGGTATGTGCTTTTGT	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						53.0	44.0	47.0					21																	33840160		2203	4300	6503	32762031	SO:0001627	intron_variant	59271	.			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.634+4T>C	21.37:g.33840160T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32762031	.	A6ND58|Q8IXZ0	Intron	SNP	ENST00000300255.2	37	CCDS13614.1																																																																																				0.443	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
IFNGR2	3460	broad.mit.edu	37	21	34793999	34793999	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:34793999G>T	ENST00000290219.6	+	3	1060				IFNGR2_ENST00000381995.1_Intron|IFNGR2_ENST00000405436.1_Intron	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AATGGTAAGAGAACTTGAGTA	0.473																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						113.0	99.0	104.0					21																	34793999		2203	4300	6503	33715869	SO:0001627	intron_variant	3460	.				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.412+7G>T	21.37:g.34793999G>T		Somatic		Capture	Illumina HiSeq	Phase_I	33715869	.	Q9BTL5	Intron	SNP	ENST00000290219.6	37	CCDS33544.1																																																																																				0.473	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
SIM2	6493	broad.mit.edu	37	21	38115864	38115864	+	Intron	SNP	G	G	A	rs150148817		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:38115864G>A	ENST00000290399.6	+	9	1780				SIM2_ENST00000430056.3_Intron	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2						cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.?(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CAGGTAACACGCATGTCCTGC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21106	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						140.0	132.0	134.0					21																	38115864		2203	4300	6503	37037734	SO:0001627	intron_variant	6493	.				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1167+8G>A	21.37:g.38115864G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37037734	.	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Intron	SNP	ENST00000290399.6	37	CCDS13646.1																																																																																				0.488	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586	
DSCAM	1826	broad.mit.edu	37	21	41385325	41385325	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:41385325G>T	ENST00000400454.1	-	33	6164					NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAGAAGGAAAGACAGGGTAGT	0.498																																					.	Melanoma(134;970 1778 1785 21664 32388)											.	.	0			.	21						.						28.0	28.0	28.0					21																	41385325		1997	4163	6160	40307195	SO:0001627	intron_variant	1826	.			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5687-12C>A	21.37:g.41385325G>T		Somatic		Capture	Illumina HiSeq	Phase_I	40307195	.	O60468	Intron	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
MX1	4599	broad.mit.edu	37	21	42807760	42807760	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:42807760C>T	ENST00000398600.2	+	8	1130				MX1_ENST00000455164.2_Intron|MX1_ENST00000398598.3_Intron|MX1_ENST00000288383.6_Intron	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1						apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTTGTTTCCTCCAGGTGGCTG	0.512																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	21						.						78.0	83.0	82.0					21																	42807760		2203	4300	6503	41729630	SO:0001627	intron_variant	4599	.				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.106-4C>T	21.37:g.42807760C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41729630	.	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Intron	SNP	ENST00000398600.2	37	CCDS13673.1																																																																																				0.512	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
KRTAP12-2	353323	broad.mit.edu	37	21	46086362	46086362	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:46086362C>T	ENST00000360770.3	-	0	482				TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2							keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GAGATTCATGCTCAGCAGCAG	0.592																																					.												.	.	0			.	21						.						52.0	55.0	54.0					21																	46086362		2115	4227	6342	44910790	SO:0001624	3_prime_UTR_variant	353323	.			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.*1G>A	21.37:g.46086362C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44910790	.	A6NIS1|A6NMS9|Q0VAS4	3'UTR	SNP	ENST00000360770.3	37	CCDS42965.1																																																																																				0.592	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684	
DIP2A	23181	broad.mit.edu	37	21	47957398	47957398	+	Missense_Mutation	SNP	G	G	A	rs373888442		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr21:47957398G>A	ENST00000417564.2	+	15	1768	c.1747G>A	c.(1747-1749)Gcg>Acg	p.A583T	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000427143.2_Missense_Mutation_p.A519T|DIP2A_ENST00000400274.1_Missense_Mutation_p.A579T|DIP2A_ENST00000318711.7_Missense_Mutation_p.A584T|DIP2A_ENST00000466639.1_Missense_Mutation_p.A540T|DIP2A_ENST00000457905.3_Missense_Mutation_p.A583T|DIP2A_ENST00000435722.3_Missense_Mutation_p.A583T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	583					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A584T(1)|p.A583T(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGTCCCCTACGCGCTGATGAA	0.547																																					p.A519T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1555A	21						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	105.0	109.0	108.0		1555,1618,1735,1747,1747,1747,1747	5.4	0.3	21		108	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	58,58,58,58,58,58,58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	519/1111,540/799,579/1568,583/1572,583/890,583/842,583/813	47957398	1,13003	2203	4299	6502	46781826	SO:0001583	missense	23181	exon13			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1747G>A	21.37:g.47957398G>A	ENSP00000392066:p.Ala583Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46781826	NM_001146114	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503987	0.64410	0.0	1.16E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.44	5.44	0.79542	AMP-dependent synthetase/ligase (1);	0.062225	0.64402	D	0.000003	T	0.57858	0.2082	M	0.77313	2.365	0.53688	D	0.999971	B;P;D;P;P;B	0.67145	0.299;0.642;0.996;0.848;0.826;0.154	B;B;P;P;B;B	0.51615	0.166;0.296;0.675;0.61;0.406;0.053	T	0.61392	-0.7072	10	0.46703	T	0.11	-24.3994	18.2394	0.89961	0.0:0.0:1.0:0.0	.	584;519;540;583;583;583	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	T	579;519;584;540;583;540;583;583	ENSP00000383133:A579T;ENSP00000400528:A519T;ENSP00000323633:A584T;ENSP00000393434:A583T;ENSP00000430249:A540T;ENSP00000415089:A583T;ENSP00000392066:A583T	ENSP00000323633:A584T	A	+	1	0	DIP2A	46781826	0.993000	0.37304	0.268000	0.24571	0.722000	0.41435	2.265000	0.43311	2.554000	0.86153	0.591000	0.81541	GCG		0.547	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
IL17RA	23765	broad.mit.edu	37	22	17583029	17583029	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:17583029G>A	ENST00000319363.6	+	7	732	c.599G>A	c.(598-600)gGc>gAc	p.G200D		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	200					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.G200D(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCTTGGCAGGCAGCCTGTGG	0.592																																					p.G200D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	22						.						108.0	95.0	99.0					22																	17583029		2203	4300	6503	15963029	SO:0001630	splice_region_variant	23765	exon7			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.599-1G>A	22.37:g.17583029G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15963029	NM_014339	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055467	0.55325	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00505	6.93	5.23	5.23	0.72850	.	0.000000	0.53938	D	0.000045	T	0.01661	0.0053	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71859	-0.4465	9	.	.	.	.	16.9848	0.86337	0.0:0.0:1.0:0.0	.	200;200	D3YTB4;Q96F46	.;I17RA_HUMAN	D	200	ENSP00000320936:G200D	.	G	+	2	0	IL17RA	15963029	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.920000	0.70017	2.455000	0.83008	0.462000	0.41574	GGC		0.592	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	Missense_Mutation
CECR2	27443	broad.mit.edu	37	22	18020202	18020202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:18020202C>T	ENST00000400585.2	+	14	1546	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.R511*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R512*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	553					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.R511*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATTTTGGATTCGAGAGGATGA	0.498																																					p.F511F												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1533T	22						.						33.0	37.0	36.0					22																	18020202		1904	4121	6025	16400202	SO:0001587	stop_gained	27443	exon13			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1108C>T	22.37:g.18020202C>T	ENSP00000383428:p.Arg370*	Somatic		Capture	Illumina HiSeq	Phase_I	16400202	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640285	0.87859	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.42	-10.8	0.00216	.	0.145318	0.30704	N	0.009058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3635	23.1873	0.99980	0.2616:0.7384:0.0:0.0	.	.	.	.	X	370;511;512	.	ENSP00000262608:R512X	R	+	1	2	CECR2	16400202	0.425000	0.25498	0.065000	0.19835	0.857000	0.48899	0.003000	0.13083	-1.629000	0.01546	0.491000	0.48974	CGA		0.498	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
CECR2	27443	broad.mit.edu	37	22	18020356	18020356	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:18020356C>T	ENST00000400585.2	+	14	1700	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	CECR2_ENST00000400573.5_Missense_Mutation_p.P562L|CECR2_ENST00000262608.8_Missense_Mutation_p.P563L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	604					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.P562L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGCCGAGCGCCCTCTTCTGGG	0.627																																					p.P563S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1687T	22						.						46.0	57.0	53.0					22																	18020356		1976	4138	6114	16400356	SO:0001583	missense	27443	exon13			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1262C>T	22.37:g.18020356C>T	ENSP00000383428:p.Pro421Leu	Somatic		Capture	Illumina HiSeq	Phase_I	16400356	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	15.50	2.850651	0.51270	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.88;1.75	5.95	4.93	0.64822	.	0.689891	0.13179	N	0.407666	T	0.22437	0.0541	L	0.36672	1.1	0.09310	N	0.999999	B;B;B	0.18610	0.029;0.0;0.0	B;B;B	0.16722	0.016;0.0;0.0	T	0.16394	-1.0404	10	0.66056	D	0.02	0.5693	10.2551	0.43392	0.0:0.793:0.1356:0.0714	.	604;421;562	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	421;562;563	ENSP00000383428:P421L;ENSP00000383417:P562L;ENSP00000262608:P563L	ENSP00000262608:P563L	P	+	2	0	CECR2	16400356	0.012000	0.17670	0.002000	0.10522	0.038000	0.13279	2.568000	0.45965	1.527000	0.49086	0.491000	0.48974	CCC		0.627	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
ATP6V1E1	529	broad.mit.edu	37	22	18095984	18095984	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:18095984T>C	ENST00000253413.5	-	3	384	c.202A>G	c.(202-204)Aag>Gag	p.K68E	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.K46E|ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.K68E	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	68					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.K68E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TACATTTTCTTCTGCTGCTCA	0.378																																					p.K68E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A202G	22						.						158.0	150.0	153.0					22																	18095984		2203	4299	6502	16475984	SO:0001583	missense	529	exon3			X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.202A>G	22.37:g.18095984T>C	ENSP00000253413:p.Lys68Glu	Somatic		Capture	Illumina HiSeq	Phase_I	16475984	NM_001696	A8MUE4|A8MUN4	Missense_Mutation	SNP	ENST00000253413.5	37	CCDS13745.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685492	0.88639	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798;ENST00000413576	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.84156	2.68	0.80722	D	1	B;P;B	0.43519	0.314;0.809;0.45	B;P;B	0.50162	0.363;0.633;0.394	T	0.78904	-0.2020	9	0.87932	D	0	-19.7815	13.9368	0.64029	0.0:0.0:0.0:1.0	.	46;68;68	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	E	68;68;46;69	.	ENSP00000253413:K68E	K	-	1	0	ATP6V1E1	16475984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.616000	0.83018	1.928000	0.55862	0.533000	0.62120	AAG		0.378	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131790.3	NM_001696	
PEX26	55670	broad.mit.edu	37	22	18570773	18570773	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:18570773G>A	ENST00000329627.7	+	6	1056	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	PEX26_ENST00000428061.2_Missense_Mutation_p.A235T|PEX26_ENST00000399744.3_Missense_Mutation_p.A284T	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	284					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.A284T(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTACAAGCTGGCCCAGCTCTT	0.617																																					p.A284T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	22						.						240.0	193.0	209.0					22																	18570773		2203	4300	6503	16950773	SO:0001583	missense	55670	exon6			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.850G>A	22.37:g.18570773G>A	ENSP00000331106:p.Ala284Thr	Somatic		Capture	Illumina HiSeq	Phase_I	16950773	NM_017929	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323187	0.41096	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.93307	-3.2;-3.2;-3.2	5.63	3.48	0.39840	.	1.060610	0.07347	N	0.881761	D	0.88239	0.6383	L	0.31294	0.92	0.21184	N	0.999768	B;B	0.25563	0.129;0.043	B;B	0.26202	0.067;0.043	T	0.74907	-0.3504	10	0.19590	T	0.45	-3.4202	8.2632	0.31797	0.0845:0.1572:0.7583:0.0	.	235;284	F6UBB5;Q7Z412	.;PEX26_HUMAN	T	284;284;235;284	ENSP00000331106:A284T;ENSP00000382648:A284T;ENSP00000412441:A235T	ENSP00000331106:A284T	A	+	1	0	PEX26	16950773	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.298000	0.33412	0.674000	0.31244	0.555000	0.69702	GCC		0.617	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929	
TSSK2	23617	broad.mit.edu	37	22	19119811	19119811	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:19119811A>G	ENST00000399635.2	+	1	1491	c.899A>G	c.(898-900)gAc>gGc	p.D300G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	300					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D300G(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TGCAAACTGGACACCAAGACA	0.637																																					p.D300G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A899G	22						.						43.0	41.0	42.0					22																	19119811		2203	4300	6503	17499811	SO:0001583	missense	23617	exon1			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.899A>G	22.37:g.19119811A>G	ENSP00000382544:p.Asp300Gly	Somatic		Capture	Illumina HiSeq	Phase_I	17499811	NM_053006	Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	A	9.307	1.054575	0.19907	.	.	ENSG00000206203	ENST00000399635	T	0.70045	-0.45	5.46	4.41	0.53225	.	0.130715	0.34338	N	0.004042	T	0.45875	0.1364	N	0.14661	0.345	0.33213	D	0.553707	B	0.09022	0.002	B	0.04013	0.001	T	0.49153	-0.8969	10	0.22706	T	0.39	.	9.4956	0.38986	0.8423:0.0:0.0:0.1577	.	300	Q96PF2	TSSK2_HUMAN	G	300	ENSP00000382544:D300G	ENSP00000382544:D300G	D	+	2	0	TSSK2	17499811	0.663000	0.27448	0.988000	0.46212	0.636000	0.38137	1.992000	0.40737	0.877000	0.35895	0.533000	0.62120	GAC		0.637	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1		
CLTCL1	8218	broad.mit.edu	37	22	19263274	19263274	+	Missense_Mutation	SNP	C	C	T	rs375568935	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:19263274C>T	ENST00000263200.10	-	2	194	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R41Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R41Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	41	Globular terminal domain.|WD40-like repeat 1.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.R41Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AACTTTCTCTCGGATACATAT	0.448			T	?	ALCL								C|||	2	0.000399361	0.0008	0.0	5008	,	,		18173	0.0		0.0	False		,,,				2504	0.001				p.R41Q			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	22						.	C	GLN/ARG,GLN/ARG	0,3944		0,0,1972	62.0	62.0	62.0		122,122	2.1	0.8	22		62	1,8301		0,1,4150	no	missense,missense	CLTCL1	NM_001835.3,NM_007098.3	43,43	0,1,6122	TT,TC,CC		0.012,0.0,0.0082	probably-damaging,probably-damaging	41/1584,41/1641	19263274	1,12245	1972	4151	6123	17643274	SO:0001583	missense	8218	exon2				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.122G>A	22.37:g.19263274C>T	ENSP00000445677:p.Arg41Gln	Somatic		Capture	Illumina HiSeq	Phase_I	17643274	NM_007098	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278533	0.80692	0.0	1.2E-4	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	4.2	2.08	0.27032	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.076259	0.51477	N	0.000098	D	0.86723	0.6001	H	0.95151	3.63	0.50813	D	0.999895	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.994	D	0.87098	0.2177	10	0.72032	D	0.01	-5.3309	10.1966	0.43058	0.0:0.8349:0.0:0.1651	.	41;41	P53675-2;P53675	.;CLH2_HUMAN	Q	41	ENSP00000439662:R41Q;ENSP00000445677:R41Q;ENSP00000441158:R41Q;ENSP00000443264:R41Q	ENSP00000445677:R41Q	R	-	2	0	CLTCL1	17643274	1.000000	0.71417	0.787000	0.31911	0.603000	0.37013	3.331000	0.52075	0.417000	0.25871	0.650000	0.86243	CGA		0.448	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
DGCR8	54487	broad.mit.edu	37	22	20094184	20094184	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:20094184C>T	ENST00000351989.3	+	11	2388	c.1959C>T	c.(1957-1959)taC>taT	p.Y653Y	DGCR8_ENST00000407755.1_Silent_p.Y620Y|DGCR8_ENST00000383024.2_Silent_p.Y620Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	653	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.Y653Y(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGAGTGAATACGTCATGGCGT	0.567																																					p.Y653Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1959T	22						.						129.0	122.0	125.0					22																	20094184		2203	4300	6503	18474184	SO:0001819	synonymous_variant	54487	exon11			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1959C>T	22.37:g.20094184C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18474184	NM_022720	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	CCDS13773.1																																																																																				0.567	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
RIMBP3	85376	broad.mit.edu	37	22	20457098	20457098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:20457098G>A	ENST00000426804.1	-	1	4688	c.4204C>T	c.(4204-4206)Cct>Tct	p.P1402S	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1402								p.P1402S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGGGCTCAGGCTCCCTCCTC	0.592																																					p.P1402S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4204T	22						.						45.0	55.0	52.0					22																	20457098		1955	4170	6125	18837098	SO:0001583	missense	85376	exon1			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4204C>T	22.37:g.20457098G>A	ENSP00000391564:p.Pro1402Ser	Somatic		Capture	Illumina HiSeq	Phase_I	18837098	NM_015672	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088136	0.01873	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17213	2.29	3.02	-0.377	0.12501	.	5.424270	0.00166	N	0.000009	T	0.11067	0.0270	N	0.24115	0.695	0.09310	N	1	B	0.25105	0.118	B	0.18871	0.023	T	0.19095	-1.0316	10	0.19590	T	0.45	3.414	5.0443	0.14475	0.4559:0.0:0.5441:0.0	.	1308	Q9UFD9	RIM3A_HUMAN	S	1308;1402	ENSP00000391564:P1402S	ENSP00000347318:P1308S	P	-	1	0	RIMBP3	18837098	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.069000	0.11542	0.142000	0.18901	0.423000	0.28283	CCT		0.592	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
SNAP29	9342	broad.mit.edu	37	22	21237844	21237844	+	Silent	SNP	C	C	T	rs267606180		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:21237844C>T	ENST00000215730.7	+	4	734	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	202	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)	p.I202I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			ACCAGAAGATCGACAGCAACC	0.532																																					p.I202I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	22						.						224.0	196.0	206.0					22																	21237844		2203	4300	6503	19567844	SO:0001819	synonymous_variant	9342	exon4			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.606C>T	22.37:g.21237844C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19567844	NM_004782		Silent	SNP	ENST00000215730.7	37	CCDS13784.1																																																																																				0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782	
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622																																					p.A93V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	22						.						116.0	104.0	108.0					22																	21988516		2203	4300	6503	20318516	SO:0001583	missense	164592	exon3			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.278C>T	22.37:g.21988516C>T	ENSP00000292779:p.Ala93Val	Somatic		Capture	Illumina HiSeq	Phase_I	20318516	NM_152612	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	CCDC116	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG		0.622	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612	
PPIL2	23759	broad.mit.edu	37	22	22020409	22020409	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22020409A>G	ENST00000335025.8	+	1	112	c.21A>G	c.(19-21)caA>caG	p.Q7Q	PPIL2_ENST00000398831.3_Silent_p.Q7Q|PPIL2_ENST00000412327.1_Silent_p.Q7Q|PPIL2_ENST00000406385.1_Silent_p.Q7Q|PPIL2_ENST00000492445.2_Silent_p.Q7Q|PPIL2_ENST00000456792.2_Silent_p.Q7Q					peptidylprolyl isomerase (cyclophilin)-like 2									p.Q7Q(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GACAGCACCAAAAGGACAAAA	0.637																																					p.Q7Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A21G	22						.						32.0	28.0	30.0					22																	22020409		2203	4300	6503	20350409	SO:0001819	synonymous_variant	23759	exon1				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.21A>G	22.37:g.22020409A>G		Somatic		Capture	Illumina HiSeq	Phase_I	20350409	NM_014337		Silent	SNP	ENST00000335025.8	37	CCDS13793.1																																																																																				0.637	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4		
MAPK1	5594	broad.mit.edu	37	22	22142617	22142617	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22142617T>G	ENST00000215832.6	-	6	973	c.785A>C	c.(784-786)aAc>aCc	p.N262T	MAPK1_ENST00000398822.3_Missense_Mutation_p.N262T|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.N262T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AAGCAAATAGTTCCTAGCTTT	0.338																																					p.N262T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A785C	22						.						90.0	90.0	90.0					22																	22142617		2203	4300	6503	20472617	SO:0001583	missense	5594	exon6			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.785A>C	22.37:g.22142617T>G	ENSP00000215832:p.Asn262Thr	Somatic		Capture	Illumina HiSeq	Phase_I	20472617	NM_002745	A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035212	0.54896	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.41758	0.99;0.99	6.03	6.03	0.97812	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	0.37046	0.0989	L	0.35288	1.05	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.11251	-1.0595	10	0.66056	D	0.02	-2.2381	16.5655	0.84588	0.0:0.0:0.0:1.0	.	262	P28482	MK01_HUMAN	T	262;250;262	ENSP00000215832:N262T;ENSP00000381803:N262T	ENSP00000215832:N262T	N	-	2	0	MAPK1	20472617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.951000	0.87819	2.302000	0.77476	0.533000	0.62120	AAC		0.338	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
VPREB1	7441	broad.mit.edu	37	22	22599670	22599670	+	Missense_Mutation	SNP	G	G	A	rs200943449		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22599670G>A	ENST00000403807.3	+	2	498	c.359G>A	c.(358-360)cGc>cAc	p.R120H	VPREB1_ENST00000302273.2_Missense_Mutation_p.R119H			P12018	VPREB_HUMAN	pre-B lymphocyte 1	120	Ig-like V-type.							p.R120H(1)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ATGGGGGCCCGCAGCTCggag	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		16268	0.0		0.001	False		,,,				2504	0.0				p.R120H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	22						.																																			20929670	SO:0001583	missense	7441	exon2			M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.359G>A	22.37:g.22599670G>A	ENSP00000385361:p.Arg120His	Somatic		Capture	Illumina HiSeq	Phase_I	20929670	NM_007128	B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	CCDS13798.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	9.791	1.177927	0.21787	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.65549	-0.16;-0.16	3.06	-4.85	0.03142	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.414520	0.04994	N	0.467769	T	0.37348	0.1000	N	0.16567	0.415	0.09310	N	1	P	0.47545	0.897	B	0.34489	0.184	T	0.45175	-0.9279	10	0.56958	D	0.05	.	7.0027	0.24820	0.178:0.4269:0.3952:0.0	.	120	P12018	VPREB_HUMAN	H	120;119	ENSP00000385361:R120H;ENSP00000304590:R119H	ENSP00000304590:R119H	R	+	2	0	VPREB1	20929670	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.153000	0.16323	-1.219000	0.02597	-0.312000	0.09012	CGC		0.567	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1		
ZNF280B	140883	broad.mit.edu	37	22	22842379	22842379	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22842379A>G	ENST00000406426.1	-	4	2087	c.1345T>C	c.(1345-1347)Tgt>Cgt	p.C449R	ZNF280B_ENST00000360412.2_Missense_Mutation_p.C449R			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C449R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTATAATGACACATGTATGGT	0.418																																					p.C449R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1345C	22						.						103.0	101.0	102.0					22																	22842379		2203	4300	6503	21172379	SO:0001583	missense	140883	exon4			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1345T>C	22.37:g.22842379A>G	ENSP00000385998:p.Cys449Arg	Somatic		Capture	Illumina HiSeq	Phase_I	21172379	NM_080764		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586269	0.03827	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58358	0.34;0.34	4.85	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.21718	0.0523	N	0.02111	-0.68	0.53688	D	0.999977	B	0.10296	0.003	B	0.11329	0.006	T	0.04017	-1.0984	9	0.26408	T	0.33	-0.4633	4.166	0.10306	0.7267:0.0:0.0935:0.1798	.	449	Q86YH2	Z280B_HUMAN	R	449	ENSP00000385998:C449R;ENSP00000353586:C449R	ENSP00000353586:C449R	C	-	1	0	ZNF280B	21172379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.490000	0.60319	0.954000	0.37851	0.533000	0.62120	TGT		0.418	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
ZNF280A	129025	broad.mit.edu	37	22	22869252	22869252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22869252C>T	ENST00000302097.3	-	2	955	c.703G>A	c.(703-705)Gca>Aca	p.A235T	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A235T(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAAATGTGCCTTTCCATTA	0.423																																					p.A235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	22						.						133.0	124.0	127.0					22																	22869252		2203	4300	6503	21199252	SO:0001583	missense	129025	exon2			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.703G>A	22.37:g.22869252C>T	ENSP00000302855:p.Ala235Thr	Somatic		Capture	Illumina HiSeq	Phase_I	21199252	NM_080740		Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621193	0.28889	.	.	ENSG00000169548	ENST00000302097	T	0.01139	5.28	3.66	-2.21	0.06973	.	.	.	.	.	T	0.00784	0.0026	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.47861	-0.9084	9	0.34782	T	0.22	0.1223	0.8068	0.01085	0.1663:0.3784:0.1625:0.2928	.	235	P59817	Z280A_HUMAN	T	235	ENSP00000302855:A235T	ENSP00000302855:A235T	A	-	1	0	ZNF280A	21199252	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.115000	0.15540	-0.309000	0.08779	-0.868000	0.02995	GCA		0.423	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
RAB36	9609	broad.mit.edu	37	22	23488846	23488846	+	Missense_Mutation	SNP	G	G	A	rs144317144		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:23488846G>A	ENST00000263116.2	+	2	281	c.241G>A	c.(241-243)Gac>Aac	p.D81N	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Missense_Mutation_p.D81N	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	81					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.D81N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGTGAGCCGCGACCGTGTCAT	0.567																																					p.D81N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	22						.						85.0	73.0	77.0					22																	23488846		2203	4300	6503	21818846	SO:0001583	missense	9609	exon2			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.241G>A	22.37:g.23488846G>A	ENSP00000263116:p.Asp81Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21818846	NM_004914	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736470	0.49045	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64803	-0.12;0.18	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.47016	1.485	0.52099	D	0.999944	P;P	0.49783	0.584;0.928	B;B	0.40534	0.15;0.332	T	0.62553	-0.6830	10	0.59425	D	0.04	-40.2059	14.6188	0.68569	0.0:0.0:1.0:0.0	.	81;81	O95755-2;O95755	.;RAB36_HUMAN	N	81;81;42	ENSP00000263116:D81N;ENSP00000343494:D81N	ENSP00000263116:D81N	D	+	1	0	RAB36	21818846	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	4.777000	0.62361	2.602000	0.87976	0.650000	0.86243	GAC		0.567	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	
ZNF70	7621	broad.mit.edu	37	22	24086481	24086481	+	Missense_Mutation	SNP	C	C	T	rs571509507		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:24086481C>T	ENST00000341976.3	-	2	1307	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D283N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CCACAGAGATCGCACTCGTGA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		15727	0.0		0.001	False		,,,				2504	0.0				p.D283N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G847A	22						.						83.0	77.0	79.0					22																	24086481		2203	4300	6503	22416481	SO:0001583	missense	7621	exon2			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.847G>A	22.37:g.24086481C>T	ENSP00000339314:p.Asp283Asn	Somatic		Capture	Illumina HiSeq	Phase_I	22416481	NM_021916		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974191	0.02215	.	.	ENSG00000187792	ENST00000341976	T	0.07567	3.18	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.10972	0.075	0.09310	N	1	P	0.35612	0.512	B	0.27796	0.083	T	0.20240	-1.0281	9	0.02654	T	1	-4.9782	8.8647	0.35278	0.0:0.7695:0.2305:0.0	.	283	Q9UC06	ZNF70_HUMAN	N	283	ENSP00000339314:D283N	ENSP00000339314:D283N	D	-	1	0	ZNF70	22416481	0.000000	0.05858	0.034000	0.17996	0.867000	0.49689	-0.871000	0.04223	2.175000	0.68902	0.456000	0.33151	GAT		0.522	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916	
SMARCB1	6598	broad.mit.edu	37	22	24135823	24135823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:24135823G>A	ENST00000263121.7	+	3	506	c.310G>A	c.(310-312)Gat>Aat	p.D104N	SMARCB1_ENST00000407082.3_Missense_Mutation_p.D104N|SMARCB1_ENST00000344921.6_Missense_Mutation_p.D95N|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D95N	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	104					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.D104N(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGATGGCAACGATGAGAAGTA	0.537			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																															p.D95N		yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	.	.	3	Unknown(2)|Substitution - Missense(1)	soft_tissue(2)|large_intestine(1)	c.G283A	22						.						173.0	153.0	160.0					22																	24135823		2203	4300	6503	22465823	SO:0001583	missense	6598	exon3			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.310G>A	22.37:g.24135823G>A	ENSP00000263121:p.Asp104Asn	Somatic		Capture	Illumina HiSeq	Phase_I	22465823	NM_001007468	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735235	0.96865	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96611	0.8894	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.992;0.995;1.0	D;D;D;D;P;P;D	0.91635	0.998;0.972;0.999;0.913;0.663;0.712;0.981	D	0.96634	0.9469	10	0.72032	D	0.01	-28.8166	18.9215	0.92528	0.0:0.0:1.0:0.0	.	95;104;54;95;95;104;104	B4E117;B4DRT1;Q86WI7;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;.;SNF5_HUMAN;.	N	104;95;104;95;104	ENSP00000388489:D104N;ENSP00000340883:D95N;ENSP00000263121:D104N;ENSP00000383984:D95N;ENSP00000385226:D104N	ENSP00000263121:D104N	D	+	1	0	SMARCB1	22465823	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.869000	0.99810	2.799000	0.96334	0.644000	0.83932	GAT		0.537	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	
SLC2A11	66035	broad.mit.edu	37	22	24220010	24220010	+	Silent	SNP	G	G	A	rs138511811	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:24220010G>A	ENST00000345044.6	+	6	907	c.639G>A	c.(637-639)ccG>ccA	p.P213P	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Silent_p.P220P|SLC2A11_ENST00000316185.8_Silent_p.P216P|SLC2A11_ENST00000467660.1_3'UTR|RN7SL268P_ENST00000491172.2_RNA			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	213					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.P220P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGAAAGCCCGCGCTACCTCC	0.672																																					p.P216P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	22						.	G	,,	5,4401	9.9+/-24.2	0,5,2198	34.0	26.0	29.0		639,648,660	-7.0	0.4	22	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	,,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,,	213/497,216/500,220/504	24220010	6,13000	2203	4300	6503	22550010	SO:0001819	synonymous_variant	66035	exon6			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.639G>A	22.37:g.24220010G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22550010	NM_001024939	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	CCDS46673.1																																																																																				0.672	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807	
CABIN1	23523	broad.mit.edu	37	22	24452738	24452738	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:24452738C>T	ENST00000398319.2	+	10	1562	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	CABIN1_ENST00000405822.2_Missense_Mutation_p.R343W|CABIN1_ENST00000263119.5_Missense_Mutation_p.R393W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	393					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R393W(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAAAGCGGCGGTCTGCCCG	0.443																																					p.R393W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1177T	22						.						114.0	119.0	117.0					22																	24452738		2203	4300	6503	22782738	SO:0001583	missense	23523	exon10			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1177C>T	22.37:g.24452738C>T	ENSP00000381364:p.Arg393Trp	Somatic		Capture	Illumina HiSeq	Phase_I	22782738	NM_012295	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408509	0.83340	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.74106	-0.81;-0.06;-0.06;-0.8;-0.06	5.34	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.993	D	0.85541	0.1215	10	0.87932	D	0	.	12.2388	0.54530	0.4342:0.5658:0.0:0.0	.	348;393;343;393	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	W	348;393;343;348;393;393	ENSP00000394209:R348W;ENSP00000263119:R393W;ENSP00000384694:R343W;ENSP00000412389:R348W;ENSP00000381364:R393W	ENSP00000263119:R393W	R	+	1	2	CABIN1	22782738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.142000	0.64820	1.248000	0.43934	0.558000	0.71614	CGG		0.443	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
SGSM1	129049	broad.mit.edu	37	22	25243761	25243761	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:25243761C>T	ENST00000400359.4	+	4	307	c.300C>T	c.(298-300)agC>agT	p.S100S	SGSM1_ENST00000400358.4_Silent_p.S100S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	100	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.S100S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGATCGAGAGCGCGTGAGTGC	0.577																																					p.S100S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	22						.						20.0	21.0	21.0					22																	25243761		2040	4199	6239	23573761	SO:0001819	synonymous_variant	129049	exon4			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.300C>T	22.37:g.25243761C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23573761	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																				0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
SGSM1	129049	broad.mit.edu	37	22	25315953	25315953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:25315953C>A	ENST00000400359.4	+	25	3358	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	SGSM1_ENST00000400358.4_Missense_Mutation_p.F1062L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1117						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.F1062L(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCATCAAATTCTTTAATGGTA	0.512																																					p.F1062L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3186A	22						.						59.0	53.0	55.0					22																	25315953		1968	4164	6132	23645953	SO:0001583	missense	129049	exon24			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3351C>A	22.37:g.25315953C>A	ENSP00000383212:p.Phe1117Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23645953	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	c	18.01	3.528042	0.64860	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.22336	1.96;1.96	5.53	3.43	0.39272	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.85197	2.74	0.52501	D	0.999958	B;B;P;D	0.76494	0.296;0.337;0.946;0.999	P;B;P;D	0.79784	0.541;0.437;0.881;0.993	T	0.45483	-0.9258	10	0.72032	D	0.01	-37.1812	8.7309	0.34498	0.0:0.7353:0.0:0.2647	.	1062;1117;1134;1117	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	1117;1062;1117	ENSP00000383211:F1062L;ENSP00000383212:F1117L	ENSP00000383211:F1062L	F	+	3	2	SGSM1	23645953	1.000000	0.71417	0.987000	0.45799	0.718000	0.41266	1.025000	0.30090	0.795000	0.33922	0.655000	0.94253	TTC		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
CRYBB3	1417	broad.mit.edu	37	22	25599759	25599759	+	Missense_Mutation	SNP	G	G	A	rs183587921	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:25599759G>A	ENST00000215855.2	+	4	304	c.224G>A	c.(223-225)cGc>cAc	p.R75H	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R75H	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	75	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R75H(1)		large_intestine(2)|lung(2)|prostate(1)	5						AGGGCCTTCCGCGGGGAGCAG	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		20450	0.001		0.0	False		,,,				2504	0.001				p.R75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	22						.	G	HIS/ARG	0,4406		0,0,2203	124.0	124.0	124.0		224	3.3	1.0	22		124	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CRYBB3	NM_004076.3	29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging	75/212	25599759	5,13001	2203	4300	6503	23929759	SO:0001583	missense	1417	exon4				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.224G>A	22.37:g.25599759G>A	ENSP00000215855:p.Arg75His	Somatic		Capture	Illumina HiSeq	Phase_I	23929759	NM_004076	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.24	2.475644	0.44044	0.0	5.81E-4	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.78126	-1.15;-1.15	4.28	3.26	0.37387	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.373940	0.27896	N	0.017402	T	0.73892	0.3645	M	0.83953	2.67	0.19945	N	0.999947	B	0.32939	0.391	B	0.24701	0.055	T	0.66795	-0.5833	10	0.49607	T	0.09	.	7.7114	0.28679	0.0958:0.1653:0.7389:0.0	.	75	P26998	CRBB3_HUMAN	H	75	ENSP00000215855:R75H;ENSP00000386123:R75H	ENSP00000215855:R75H	R	+	2	0	CRYBB3	23929759	0.103000	0.21917	0.996000	0.52242	0.507000	0.33981	1.712000	0.37940	0.783000	0.33636	0.471000	0.43371	CGC		0.567	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076	
MYO18B	84700	broad.mit.edu	37	22	26177741	26177741	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:26177741A>C	ENST00000407587.2	+	10	2421	c.2252A>C	c.(2251-2253)gAa>gCa	p.E751A	MYO18B_ENST00000335473.7_Missense_Mutation_p.E751A|MYO18B_ENST00000536101.1_Missense_Mutation_p.E751A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	751	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E751A(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCAGCCGGAAGGGGAAAGT	0.567																																					p.E751A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2252C	22						.						66.0	67.0	67.0					22																	26177741		1960	4142	6102	24507741	SO:0001583	missense	84700	exon10			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2252A>C	22.37:g.26177741A>C	ENSP00000386096:p.Glu751Ala	Somatic		Capture	Illumina HiSeq	Phase_I	24507741	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	A	10.02	1.236191	0.22626	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87179	-2.22;-2.22;-2.22	5.33	4.28	0.50868	Myosin head, motor domain (2);	0.605862	0.15936	N	0.237434	T	0.79155	0.4398	L	0.37630	1.12	0.25197	N	0.990089	B;B;B;B	0.17268	0.001;0.007;0.021;0.005	B;B;B;B	0.16722	0.006;0.016;0.013;0.009	T	0.59295	-0.7481	10	0.08179	T	0.78	.	11.026	0.47744	0.706:0.294:0.0:0.0	.	264;751;751;751	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	A	751	ENSP00000441229:E751A;ENSP00000334563:E751A;ENSP00000386096:E751A	ENSP00000334563:E751A	E	+	2	0	MYO18B	24507741	0.269000	0.24143	0.763000	0.31416	0.215000	0.24574	1.722000	0.38042	0.828000	0.34709	0.533000	0.62120	GAA		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26270322	26270322	+	Missense_Mutation	SNP	G	G	A	rs377101901		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:26270322G>A	ENST00000407587.2	+	23	4193	c.4024G>A	c.(4024-4026)Gtt>Att	p.V1342I	MYO18B_ENST00000335473.7_Missense_Mutation_p.V1341I|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1341I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1341	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1342I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAGAGCATCGTTCTCTTCCA	0.537																																					p.V1341I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4021A	22						.	G	ILE/VAL	0,3812		0,0,1906	94.0	92.0	93.0		4021	-7.8	0.0	22		93	2,8264		0,2,4131	no	missense	MYO18B	NM_032608.5	29	0,2,6037	AA,AG,GG		0.0242,0.0,0.0166	benign	1341/2568	26270322	2,12076	1906	4133	6039	24600322	SO:0001583	missense	84700	exon23			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4024G>A	22.37:g.26270322G>A	ENSP00000386096:p.Val1342Ile	Somatic		Capture	Illumina HiSeq	Phase_I	24600322	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	3.166	-0.171048	0.06421	0.0	2.42E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.70869	-0.52;-0.52;-0.52	5.45	-7.8	0.01214	.	0.889113	0.09728	N	0.763529	T	0.38188	0.1031	N	0.05330	-0.07	0.09310	N	1	B;B;B;B	0.16802	0.019;0.001;0.0;0.002	B;B;B;B	0.13407	0.009;0.001;0.001;0.002	T	0.46596	-0.9180	10	0.05351	T	0.99	.	9.8065	0.40797	0.4917:0.0928:0.4155:0.0	.	854;1341;1342;1341	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1341;1341;1342	ENSP00000441229:V1341I;ENSP00000334563:V1341I;ENSP00000386096:V1342I	ENSP00000334563:V1341I	V	+	1	0	MYO18B	24600322	0.000000	0.05858	0.041000	0.18516	0.958000	0.62258	-1.685000	0.01930	-1.469000	0.01890	-0.127000	0.14921	GTT		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
HPS4	89781	broad.mit.edu	37	22	26860267	26860267	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:26860267G>A	ENST00000398145.2	-	11	1945	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Silent_p.L443L|HPS4_ENST00000402105.3_Silent_p.L438L|HPS4_ENST00000398141.1_Silent_p.L456L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	443			L -> V (in dbSNP:rs2014410). {ECO:0000269|PubMed:17974005}.		blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.L443L(1)|p.L456L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GATGGTCTTCGAGCTGCTCTT	0.622									Hermansky-Pudlak syndrome																												p.L443L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1329T	22						.						93.0	90.0	91.0					22																	26860267		2203	4300	6503	25190267	SO:0001819	synonymous_variant	89781	exon11	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1329C>T	22.37:g.26860267G>A		Somatic		Capture	Illumina HiSeq	Phase_I	25190267	NM_022081	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.622	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081	
SRRD	402055	broad.mit.edu	37	22	26887469	26887469	+	Nonsense_Mutation	SNP	C	C	A	rs370703325		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:26887469C>A	ENST00000215917.7	+	7	865	c.851C>A	c.(850-852)tCa>tAa	p.S284*	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	284					rhythmic process (GO:0048511)			p.S284*(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTCAGACTTCACAATACATG	0.403																																					p.S284X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C851A	22						.						112.0	108.0	109.0					22																	26887469		1835	4077	5912	25217469	SO:0001587	stop_gained	402055	exon7			BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.851C>A	22.37:g.26887469C>A	ENSP00000215917:p.Ser284*	Somatic		Capture	Illumina HiSeq	Phase_I	25217469	NM_001013694	Q6NXP8	Nonsense_Mutation	SNP	ENST00000215917.7	37	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279731	0.80692	.	.	ENSG00000100104	ENST00000215917	.	.	.	5.37	3.24	0.37175	.	0.640848	0.16205	N	0.224769	.	.	.	.	.	.	0.29096	N	0.881769	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.5123	11.5377	0.50648	0.0:0.8527:0.0:0.1473	.	.	.	.	X	284	.	ENSP00000215917:S284X	S	+	2	0	SRRD	25217469	0.010000	0.17322	0.003000	0.11579	0.923000	0.55619	2.535000	0.45685	1.496000	0.48567	0.650000	0.86243	TCA		0.403	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694	
CRYBA4	1413	broad.mit.edu	37	22	27018598	27018598	+	Splice_Site	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:27018598A>T	ENST00000354760.3	+	2	73	c.38A>T	c.(37-39)aAg>aTg	p.K13M	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	13	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.K13M(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGACCCTGGAAGGTAGGAAGA	0.542																																					p.K13M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A38T	22						.						54.0	54.0	54.0					22																	27018598		2203	4300	6503	25348598	SO:0001630	splice_region_variant	1413	exon2				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.39+1A>T	22.37:g.27018598A>T		Somatic		Capture	Illumina HiSeq	Phase_I	25348598	NM_001886	Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456992	0.63401	.	.	ENSG00000196431	ENST00000354760	T	0.80123	-1.34	4.08	1.95	0.26073	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.123114	0.53938	D	0.000052	D	0.91392	0.7284	H	0.97365	3.99	0.80722	D	1	B	0.31054	0.306	P	0.53035	0.716	D	0.88722	0.3230	10	0.87932	D	0	.	6.8225	0.23864	0.8119:0.0:0.1881:0.0	.	13	P53673	CRBA4_HUMAN	M	13	ENSP00000346805:K13M	ENSP00000346805:K13M	K	+	2	0	CRYBA4	25348598	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.765000	0.55272	0.267000	0.21916	0.454000	0.30748	AAG		0.542	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	Missense_Mutation
CRYBA4	1413	broad.mit.edu	37	22	27024372	27024372	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:27024372T>C	ENST00000354760.3	+	5	456	c.421T>C	c.(421-423)Tcc>Ccc	p.S141P	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	141	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.S141P(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TGAAGTAGGGTCCTTCCACGT	0.552																																					p.S141P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T421C	22						.						137.0	110.0	119.0					22																	27024372		2203	4300	6503	25354372	SO:0001583	missense	1413	exon5				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.421T>C	22.37:g.27024372T>C	ENSP00000346805:p.Ser141Pro	Somatic		Capture	Illumina HiSeq	Phase_I	25354372	NM_001886	Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175787	0.78564	.	.	ENSG00000196431	ENST00000354760	D	0.93366	-3.21	4.3	4.3	0.51218	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98270	1.0503	10	0.87932	D	0	.	11.46	0.50204	0.0:0.0:0.0:1.0	.	141	P53673	CRBA4_HUMAN	P	141	ENSP00000346805:S141P	ENSP00000346805:S141P	S	+	1	0	CRYBA4	25354372	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.742000	0.74843	1.820000	0.53075	0.533000	0.62120	TCC		0.552	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	
CCDC117	150275	broad.mit.edu	37	22	29179621	29179621	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:29179621T>G	ENST00000249064.4	+	4	766	c.590T>G	c.(589-591)aTg>aGg	p.M197R	CCDC117_ENST00000421503.2_Missense_Mutation_p.M122R|CCDC117_ENST00000448492.2_Missense_Mutation_p.M179R|CCDC117_ENST00000443309.2_Missense_Mutation_p.M65R	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	197								p.M197R(1)		breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						ACAAAGAAAATGATTGAGTCT	0.383																																					p.M197R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T590G	22						.						133.0	141.0	139.0					22																	29179621		2203	4300	6503	27509621	SO:0001583	missense	150275	exon4			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.590T>G	22.37:g.29179621T>G	ENSP00000249064:p.Met197Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27509621	NM_173510	A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	T	8.756	0.922545	0.17982	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309;ENST00000432510	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.59	4.55	0.56014	.	0.101073	0.64402	D	0.000002	T	0.15782	0.0380	N	0.24115	0.695	0.38114	D	0.937662	B;B;B	0.26081	0.087;0.141;0.141	B;B;B	0.36244	0.084;0.186;0.22	T	0.10660	-1.0620	10	0.87932	D	0	.	11.5207	0.50549	0.1343:0.0:0.0:0.8657	.	122;179;197	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	R	197;179;122;65;65	ENSP00000249064:M197R;ENSP00000389478:M179R;ENSP00000387827:M122R;ENSP00000399363:M65R;ENSP00000415728:M65R	ENSP00000249064:M197R	M	+	2	0	CCDC117	27509621	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	5.078000	0.64425	1.032000	0.39892	-0.496000	0.04628	ATG		0.383	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510	
XBP1	7494	broad.mit.edu	37	22	29195130	29195130	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:29195130T>C	ENST00000216037.6	-	2	311	c.239A>G	c.(238-240)aAc>aGc	p.N80S	XBP1_ENST00000344347.5_Missense_Mutation_p.N80S|CTA-292E10.6_ENST00000585003.1_RNA|XBP1_ENST00000405219.3_Missense_Mutation_p.N30S|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000451486.1_RNA|CTA-292E10.6_ENST00000418292.1_RNA|XBP1_ENST00000403532.3_Missense_Mutation_p.N80S	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	80	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N80S(2)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TGCTACTCTGTTTTTCAGTTT	0.393																																					p.N80S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A239G	22						.						97.0	88.0	91.0					22																	29195130		2203	4300	6503	27525130	SO:0001583	missense	7494	exon2			M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.239A>G	22.37:g.29195130T>C	ENSP00000216037:p.Asn80Ser	Somatic		Capture	Illumina HiSeq	Phase_I	27525130	NM_005080	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938444	0.92526	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.25	5.25	0.73442	.	0.084959	0.85682	D	0.000000	D	0.87853	0.6282	H	0.97315	3.98	0.80722	D	1	D;P	0.89917	1.0;0.939	D;P	0.91635	0.999;0.645	D	0.91878	0.5513	9	0.87932	D	0	.	13.999	0.64421	0.0:0.0:0.0:1.0	.	80;30	P17861-2;B1AHH1	.;.	S	80;80;80;30	.	ENSP00000216037:N80S	N	-	2	0	XBP1	27525130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.737000	0.74816	1.992000	0.58205	0.533000	0.62120	AAC		0.393	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080	
NEFH	4744	broad.mit.edu	37	22	29885175	29885175	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:29885175G>T	ENST00000310624.6	+	4	1579	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	516	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A516S(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAGAAGGAAGCCAAGTCACC	0.557																																					p.A516S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1546T	22						.						48.0	54.0	52.0					22																	29885175		2203	4300	6503	28215175	SO:0001583	missense	4744	exon4				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1546G>T	22.37:g.29885175G>T	ENSP00000311997:p.Ala516Ser	Somatic		Capture	Illumina HiSeq	Phase_I	28215175	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785728	0.49997	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.81659	-1.52	5.36	2.02	0.26589	.	0.163547	0.29266	N	0.012647	T	0.66645	0.2810	L	0.38175	1.15	0.27576	N	0.949728	B	0.32573	0.376	B	0.23852	0.049	T	0.62478	-0.6846	10	0.72032	D	0.01	.	7.8998	0.29727	0.301:0.0:0.699:0.0	.	516	P12036	NFH_HUMAN	S	516	ENSP00000311997:A516S	ENSP00000311997:A516S	A	+	1	0	NEFH	28215175	0.925000	0.31364	0.871000	0.34182	0.917000	0.54804	0.082000	0.14847	0.806000	0.34183	0.655000	0.94253	GCC		0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
NEFH	4744	broad.mit.edu	37	22	29885421	29885421	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:29885421G>A	ENST00000310624.6	+	4	1825	c.1792G>A	c.(1792-1794)Gcc>Acc	p.A598T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	598	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A598T(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACCGGCTGAGGCCAAGTCTCC	0.557																																					p.A598T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1792A	22						.						65.0	63.0	63.0					22																	29885421		2203	4300	6503	28215421	SO:0001583	missense	4744	exon4				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1792G>A	22.37:g.29885421G>A	ENSP00000311997:p.Ala598Thr	Somatic		Capture	Illumina HiSeq	Phase_I	28215421	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481132	0.26598	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	T	0.37058	1.22	5.63	3.57	0.40892	.	0.993842	0.08156	N	0.989256	T	0.35711	0.0941	L	0.53249	1.67	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.33929	-0.9849	10	0.87932	D	0	.	8.163	0.31209	0.3042:0.0:0.6958:0.0	.	598	P12036	NFH_HUMAN	T	598	ENSP00000311997:A598T	ENSP00000311997:A598T	A	+	1	0	NEFH	28215421	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	1.328000	0.33758	0.760000	0.33108	0.655000	0.94253	GCC		0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
THOC5	8563	broad.mit.edu	37	22	29945123	29945123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:29945123G>A	ENST00000490103.1	-	2	136	c.14C>T	c.(13-15)tCg>tTg	p.S5L	THOC5_ENST00000397871.1_Missense_Mutation_p.S5L|THOC5_ENST00000397873.2_Missense_Mutation_p.S5L|THOC5_ENST00000397872.1_Missense_Mutation_p.S5L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	5	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.S5L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTTTTGCTCGATTCTGATGA	0.473																																					p.S5L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14T	22						.						207.0	152.0	171.0					22																	29945123		2203	4300	6503	28275123	SO:0001583	missense	8563	exon3			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.14C>T	22.37:g.29945123G>A	ENSP00000420306:p.Ser5Leu	Somatic		Capture	Illumina HiSeq	Phase_I	28275123	NM_001002877	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194648	0.78902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000428374;ENST00000418021	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.71	5.71	0.89125	.	0.367566	0.28114	N	0.016547	T	0.32675	0.0837	M	0.61703	1.905	0.50813	D	0.999895	B	0.24368	0.102	B	0.20184	0.028	T	0.08953	-1.0697	10	0.87932	D	0	-30.743	19.4609	0.94916	0.0:0.0:1.0:0.0	.	5	Q13769	THOC5_HUMAN	L	5	ENSP00000420306:S5L;ENSP00000380970:S5L;ENSP00000380969:S5L;ENSP00000380971:S5L	ENSP00000444493:S5L	S	-	2	0	THOC5	28275123	1.000000	0.71417	0.987000	0.45799	0.942000	0.58702	8.533000	0.90617	2.688000	0.91661	0.655000	0.94253	TCG		0.473	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	
MTMR3	8897	broad.mit.edu	37	22	30387543	30387543	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:30387543A>G	ENST00000401950.2	+	7	686	c.344A>G	c.(343-345)aAc>aGc	p.N115S	MTMR3_ENST00000351488.3_Missense_Mutation_p.N115S|MTMR3_ENST00000333027.3_Missense_Mutation_p.N115S|MTMR3_ENST00000406629.1_Missense_Mutation_p.N115S|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000323630.5_5'UTR	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	115					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.N115S(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGAGACTGAACAACGCAATC	0.423																																					p.N115S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	22						.						121.0	105.0	110.0					22																	30387543		2203	4300	6503	28717543	SO:0001583	missense	8897	exon7			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.344A>G	22.37:g.30387543A>G	ENSP00000384651:p.Asn115Ser	Somatic		Capture	Illumina HiSeq	Phase_I	28717543	NM_153051	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	4.028	0.002789	0.07866	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.83	5.83	0.93111	.	0.125063	0.64402	D	0.000001	T	0.62392	0.2424	N	0.02775	-0.495	0.51012	D	0.999906	B;B;B	0.26041	0.14;0.012;0.14	B;B;B	0.27076	0.076;0.014;0.076	T	0.64093	-0.6488	10	0.02654	T	1	.	15.3779	0.74625	1.0:0.0:0.0:0.0	.	115;115;115	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	S	115	ENSP00000384651:N115S;ENSP00000331649:N115S;ENSP00000409063:N115S;ENSP00000307271:N115S;ENSP00000384077:N115S	ENSP00000331649:N115S	N	+	2	0	MTMR3	28717543	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.795000	0.55499	2.225000	0.72522	0.533000	0.62120	AAC		0.423	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
MTMR3	8897	broad.mit.edu	37	22	30415931	30415931	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:30415931C>T	ENST00000401950.2	+	17	2625	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	MTMR3_ENST00000351488.3_Silent_p.F761F|MTMR3_ENST00000333027.3_Silent_p.F761F|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000406629.1_Silent_p.F761F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.F625F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	761					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.F761F(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGCCTCTGTTCTCACAGGGCA	0.582																																					p.F761F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2283T	22						.						80.0	80.0	80.0					22																	30415931		2203	4300	6503	28745931	SO:0001819	synonymous_variant	8897	exon17			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2283C>T	22.37:g.30415931C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28745931	NM_153051	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
SEC14L4	284904	broad.mit.edu	37	22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	rs141785416		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:30890140G>A	ENST00000255858.7	-	7	660	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000392772.2_Nonsense_Mutation_p.R139*|RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483																																					p.R193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C577T	22						.	G	stop/ARG,stop/ARG	0,4406		0,0,2203	92.0	93.0	93.0		577,577	2.8	0.9	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	SEC14L4	NM_001161368.1,NM_174977.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	193/361,193/407	30890140	1,13005	2203	4300	6503	29220140	SO:0001587	stop_gained	284904	exon7			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.577C>T	22.37:g.30890140G>A	ENSP00000255858:p.Arg193*	Somatic		Capture	Illumina HiSeq	Phase_I	29220140	NM_001161368	A5D6W7|A6NCV4	Nonsense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657062	0.67586	0.0	1.16E-4	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	.	.	.	5.22	2.83	0.33086	.	0.064020	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.717	0.46019	0.0:0.0:0.493:0.507	.	.	.	.	X	193;178;139;193	.	ENSP00000255858:R193X	R	-	1	2	SEC14L4	29220140	0.999000	0.42202	0.877000	0.34402	0.391000	0.30476	3.269000	0.51592	1.320000	0.45209	0.591000	0.81541	CGA		0.483	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	
TCN2	6948	broad.mit.edu	37	22	31019040	31019040	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:31019040C>A	ENST00000215838.3	+	8	1686	c.1192C>A	c.(1192-1194)Ctc>Atc	p.L398I	TCN2_ENST00000407817.3_Missense_Mutation_p.L371I|TCN2_ENST00000405742.3_Missense_Mutation_p.L394I			P20062	TCO2_HUMAN	transcobalamin II	398					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.L398I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGGCAGCTTCTCCGAGACCC	0.552																																					p.L371I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1111A	22						.						82.0	79.0	80.0					22																	31019040		2203	4300	6503	29349040	SO:0001583	missense	6948	exon8				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1192C>A	22.37:g.31019040C>A	ENSP00000215838:p.Leu398Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29349040	NM_001184726	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904302	0.17760	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.30714	1.52;1.52;1.52	5.51	0.688	0.18027	.	0.330064	0.32372	N	0.006199	T	0.34048	0.0884	M	0.86740	2.835	0.80722	D	1	B;B;B	0.25390	0.125;0.055;0.055	B;B;B	0.29785	0.056;0.107;0.107	T	0.07947	-1.0746	10	0.38643	T	0.18	-9.0397	4.773	0.13166	0.1533:0.5123:0.2575:0.0769	.	371;394;398	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	398;394;371	ENSP00000215838:L398I;ENSP00000385914:L394I;ENSP00000384914:L371I	ENSP00000215838:L398I	L	+	1	0	TCN2	29349040	0.084000	0.21492	0.721000	0.30653	0.017000	0.09413	0.259000	0.18405	0.207000	0.20607	-0.291000	0.09656	CTC		0.552	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355	
LIMK2	3985	broad.mit.edu	37	22	31621780	31621780	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:31621780G>A	ENST00000331728.4	+	2	205	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RNU6-1128P_ENST00000362825.1_RNA|LIMK2_ENST00000444929.2_Missense_Mutation_p.E31K|LIMK2_ENST00000406516.1_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	31	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.E31K(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACTGTCAACGAAACCTGGCA	0.512																																					p.E31K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91A	22						.						160.0	119.0	133.0					22																	31621780		2203	4300	6503	29951780	SO:0001583	missense	3985	exon2			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.91G>A	22.37:g.31621780G>A	ENSP00000332687:p.Glu31Lys	Somatic		Capture	Illumina HiSeq	Phase_I	29951780	NM_005569	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169749	0.38315	.	.	ENSG00000182541	ENST00000444929;ENST00000331728	T;D	0.85702	-0.92;-2.02	5.56	4.55	0.56014	Zinc finger, LIM-type (5);	.	.	.	.	T	0.61173	0.2326	N	0.02315	-0.6	0.26968	N	0.965645	B;P	0.42871	0.123;0.792	B;B	0.34418	0.008;0.182	T	0.53690	-0.8403	9	0.11794	T	0.64	.	10.4989	0.44794	0.0896:0.0:0.9104:0.0	.	31;31	E7EUC1;P53671	.;LIMK2_HUMAN	K	31	ENSP00000409522:E31K;ENSP00000332687:E31K	ENSP00000332687:E31K	E	+	1	0	LIMK2	29951780	0.999000	0.42202	0.905000	0.35620	0.024000	0.10985	3.573000	0.53856	1.354000	0.45846	0.561000	0.74099	GAA		0.512	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
PATZ1	23598	broad.mit.edu	37	22	31737575	31737575	+	Intron	SNP	G	G	A	rs373917062		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:31737575G>A	ENST00000266269.5	-	2	1965				PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron|PATZ1_ENST00000215919.3_Missense_Mutation_p.S477L	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S477L(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGAATGGGACGACCTCCACAA	0.572																																					p.S477L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1430T	22						.	G	,,LEU/SER,	0,4406		0,0,2203	68.0	75.0	73.0		,,1430,	5.6	1.0	22		73	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	PATZ1	NM_014323.2,NM_032050.1,NM_032051.1,NM_032052.1	,,145,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,,477/538,	31737575	1,13005	2203	4300	6503	30067575	SO:0001627	intron_variant	23598	exon3			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1335+1307C>T	22.37:g.31737575G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30067575	NM_032051	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448281	0.84101	0.0	1.16E-4	ENSG00000100105	ENST00000215919	T	0.08102	3.13	5.58	5.58	0.84498	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.25875	N	0.983665	P	0.36647	0.563	B	0.33620	0.167	T	0.34153	-0.9840	9	0.72032	D	0.01	.	15.061	0.71955	0.0:0.0:1.0:0.0	.	477	Q9HBE1-4	.	L	477	ENSP00000215919:S477L	ENSP00000215919:S477L	S	-	2	0	PATZ1	30067575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.090000	0.50191	2.645000	0.89757	0.655000	0.94253	TCG		0.572	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
SFI1	9814	broad.mit.edu	37	22	31927079	31927079	+	Missense_Mutation	SNP	G	G	A	rs200150663	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:31927079G>A	ENST00000400288.2	+	4	407	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.R101Q|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443326.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	101					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R101Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTATGGATTCGAATGACTTTT	0.328																																					p.R101Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	22						.						121.0	113.0	115.0					22																	31927079		1830	4079	5909	30257079	SO:0001583	missense	9814	exon4			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.302G>A	22.37:g.31927079G>A	ENSP00000383145:p.Arg101Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30257079	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960897	0.53400	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	T;T;T	0.26660	2.83;2.86;1.72	4.26	0.77	0.18497	.	0.274240	0.27151	N	0.020686	T	0.22085	0.0532	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.986	T	0.15093	-1.0449	10	0.49607	T	0.09	.	3.3719	0.07224	0.2189:0.0:0.5787:0.2024	.	101;101	A8K8P3-2;A8K8P3	.;SFI1_HUMAN	Q	101;101;52	ENSP00000402679:R101Q;ENSP00000383145:R101Q;ENSP00000389364:R52Q	ENSP00000383145:R101Q	R	+	2	0	SFI1	30257079	0.906000	0.30813	0.997000	0.53966	0.979000	0.70002	0.190000	0.17057	0.558000	0.29135	0.442000	0.29010	CGA		0.328	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
C22orf24	25775	broad.mit.edu	37	22	32330147	32330147	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:32330147A>C	ENST00000248984.3	-	3	606	c.440T>G	c.(439-441)aTt>aGt	p.I147S	C22orf24_ENST00000543051.1_Missense_Mutation_p.I214S|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	147						integral component of membrane (GO:0016021)		p.I147S(1)		central_nervous_system(1)|urinary_tract(1)	2						TGTGGCAGGAATCCAAAAGCT	0.522																																					p.I147S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T440G	22						.						28.0	30.0	30.0					22																	32330147		2056	4197	6253	30660147	SO:0001583	missense	25775	exon3				CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.440T>G	22.37:g.32330147A>C	ENSP00000248984:p.Ile147Ser	Somatic		Capture	Illumina HiSeq	Phase_I	30660147	NM_015372	B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	A	8.534	0.871744	0.17322	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.41065	1.01;1.01	3.89	-2.14	0.07123	.	1.381680	0.05483	N	0.555132	T	0.21387	0.0515	N	0.08118	0	0.19945	N	0.999941	B	0.29552	0.248	B	0.28991	0.097	T	0.26677	-1.0096	10	0.87932	D	0	.	4.0423	0.09756	0.221:0.0:0.6243:0.1547	.	147	Q9Y442	CV024_HUMAN	S	147;214	ENSP00000248984:I147S;ENSP00000437643:I214S	ENSP00000248984:I147S	I	-	2	0	C22orf24	30660147	0.150000	0.22732	0.466000	0.27168	0.572000	0.35998	-0.439000	0.06897	-0.290000	0.09025	-0.441000	0.05720	ATT		0.522	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372	
BPIFC	254240	broad.mit.edu	37	22	32808069	32808069	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:32808069G>T	ENST00000397452.1	-	0	2091				RTCB_ENST00000216038.5_Silent_p.G25G|RTCB_ENST00000451746.2_Silent_p.G25G			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.G25G(2)									TGGGCACGAAGCCCTTCTTGA	0.572																																					p.G25G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C75A	22						.						106.0	105.0	105.0					22																	32808069		2203	4300	6503	31138069	SO:0001628	intergenic_variant	51493	exon1			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273		22.37:g.32808069G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31138069	NM_014306	A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																				0.572	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
FBXO7	25793	broad.mit.edu	37	22	32881122	32881122	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:32881122A>T	ENST00000266087.7	+	4	1040	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	FBXO7_ENST00000397426.1_Missense_Mutation_p.Y124F|FBXO7_ENST00000382058.3_Missense_Mutation_p.Y159F	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	238	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Y238F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCTGCAGTACATGCATCCT	0.498																																					p.Y159F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A476T	22						.						153.0	129.0	138.0					22																	32881122		2203	4300	6503	31211122	SO:0001583	missense	25793	exon4			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.713A>T	22.37:g.32881122A>T	ENSP00000266087:p.Tyr238Phe	Somatic		Capture	Illumina HiSeq	Phase_I	31211122	NM_001033024	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785235	0.90282	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.75050	-0.9;-0.9;-0.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.82923	2.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.88249	0.2915	10	0.54805	T	0.06	-14.5964	15.7453	0.77936	1.0:0.0:0.0:0.0	.	159;238;124	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	F	238;159;124	ENSP00000266087:Y238F;ENSP00000371490:Y159F;ENSP00000380571:Y124F	ENSP00000266087:Y238F	Y	+	2	0	FBXO7	31211122	1.000000	0.71417	0.981000	0.43875	0.921000	0.55340	7.188000	0.77739	2.172000	0.68678	0.533000	0.62120	TAC		0.498	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
FBXO7	25793	broad.mit.edu	37	22	32883792	32883792	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:32883792C>A	ENST00000266087.7	+	5	1175	c.848C>A	c.(847-849)tCt>tAt	p.S283Y	FBXO7_ENST00000397426.1_Missense_Mutation_p.S169Y|FBXO7_ENST00000382058.3_Missense_Mutation_p.S204Y	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	283	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S283Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTACCAGAATCTTTTATTTGC	0.284																																					p.S204Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C611A	22						.						42.0	42.0	42.0					22																	32883792		2200	4295	6495	31213792	SO:0001583	missense	25793	exon5			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.848C>A	22.37:g.32883792C>A	ENSP00000266087:p.Ser283Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31213792	NM_001033024	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224492	0.79576	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.45276	0.9;0.9;0.9	6.05	6.05	0.98169	.	0.263836	0.48286	D	0.000199	T	0.66877	0.2834	M	0.78916	2.43	0.58432	D	0.999999	P;D;D	0.56746	0.95;0.977;0.977	P;D;P	0.63381	0.767;0.914;0.877	T	0.67825	-0.5570	10	0.87932	D	0	-17.3841	20.6013	0.99457	0.0:1.0:0.0:0.0	.	204;283;169	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	Y	283;204;169	ENSP00000266087:S283Y;ENSP00000371490:S204Y;ENSP00000380571:S169Y	ENSP00000266087:S283Y	S	+	2	0	FBXO7	31213792	0.982000	0.34865	1.000000	0.80357	0.986000	0.74619	3.699000	0.54778	2.878000	0.98634	0.650000	0.86243	TCT		0.284	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
TIMP3	7078	broad.mit.edu	37	22	33254006	33254006	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:33254006C>T	ENST00000266085.6	+	4	620	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	107	Mediates interaction with EFEMP1.|NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R107C(1)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TCCTGTAGGTCGCGTCTATGA	0.532																																					p.R107C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C319T	22						.						108.0	97.0	100.0					22																	33254006		2203	4300	6503	31584006	SO:0001583	missense	7078	exon4				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.319C>T	22.37:g.33254006C>T	ENSP00000266085:p.Arg107Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31584006	NM_000362	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011987	0.54468	.	.	ENSG00000100234	ENST00000266085;ENST00000538671;ENST00000382049	D	0.94092	-3.35	5.34	5.34	0.76211	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97320	0.9943	10	0.87932	D	0	-14.0111	19.0387	0.92989	0.0:1.0:0.0:0.0	.	107	P35625	TIMP3_HUMAN	C	107;41;107	ENSP00000266085:R107C	ENSP00000266085:R107C	R	+	1	0	TIMP3	31584006	1.000000	0.71417	0.906000	0.35671	0.021000	0.10359	3.147000	0.50639	2.506000	0.84524	0.561000	0.74099	CGC		0.532	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362	
SYN3	8224	broad.mit.edu	37	22	33264971	33264971	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:33264971G>T	ENST00000358763.2	-	5	845	c.603C>A	c.(601-603)ttC>ttA	p.F201L	SYN3_ENST00000332840.5_Missense_Mutation_p.F201L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	201	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.F201L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTTGCTGCAGAAGTTGTAGA	0.632																																					p.F201L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C603A	22						.						54.0	44.0	48.0					22																	33264971		2203	4300	6503	31594971	SO:0001583	missense	8224	exon4			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.603C>A	22.37:g.33264971G>T	ENSP00000351614:p.Phe201Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31594971	NM_133633	B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928945	0.73327	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.34275	1.37;1.37	5.87	4.86	0.63082	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.41124	1.26	0.80722	D	1	P;P;P	0.38048	0.616;0.616;0.616	B;B;B	0.35607	0.206;0.206;0.206	T	0.12604	-1.0541	10	0.51188	T	0.08	-7.8828	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	200;201;201	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	L	201	ENSP00000351614:F201L;ENSP00000330219:F201L	ENSP00000330219:F201L	F	-	3	2	SYN3	31594971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.671000	0.74472	1.636000	0.50526	0.655000	0.94253	TTC		0.632	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4		
HMGXB4	10042	broad.mit.edu	37	22	35659200	35659200	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:35659200C>A	ENST00000216106.5	+	3	289	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	54					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.S54Y(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCAGGAATTCTTCCAAGAAG	0.353																																					p.S54Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C161A	22						.						43.0	45.0	44.0					22																	35659200		2203	4300	6503	33989200	SO:0001583	missense	10042	exon3			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.161C>A	22.37:g.35659200C>A	ENSP00000216106:p.Ser54Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	33989200	NM_001003681	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106962	0.37145	.	.	ENSG00000100281	ENST00000216106	T	0.22539	1.95	4.66	3.64	0.41730	.	0.183723	0.48286	D	0.000194	T	0.28995	0.0720	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.03619	-1.1019	10	0.87932	D	0	-9.0146	8.4836	0.33059	0.1529:0.7657:0.0:0.0814	.	54	Q9UGU5	HMGX4_HUMAN	Y	54	ENSP00000216106:S54Y	ENSP00000216106:S54Y	S	+	2	0	HMGXB4	33989200	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.981000	0.56902	0.944000	0.37579	0.305000	0.20034	TCT		0.353	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	
HMGXB4	10042	broad.mit.edu	37	22	35661066	35661066	+	Missense_Mutation	SNP	C	C	T	rs538821671		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:35661066C>T	ENST00000216106.5	+	5	813	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	HMGXB4_ENST00000444518.2_Missense_Mutation_p.R120W	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	229					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.R229W(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAATCAGCTCGGGATGAGCA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19084	0.0		0.0	False		,,,				2504	0.0				p.R229W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	22						.						94.0	102.0	100.0					22																	35661066		2203	4300	6503	33991066	SO:0001583	missense	10042	exon5			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.685C>T	22.37:g.35661066C>T	ENSP00000216106:p.Arg229Trp	Somatic		Capture	Illumina HiSeq	Phase_I	33991066	NM_001003681	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583763	0.46006	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.81	5.81	0.92471	.	0.208221	0.41605	D	0.000860	T	0.64136	0.2571	L	0.29908	0.895	0.51482	D	0.99992	D	0.89917	1.0	D	0.91635	0.999	T	0.66280	-0.5963	10	0.87932	D	0	-10.1351	18.261	0.90035	0.0:1.0:0.0:0.0	.	229	Q9UGU5	HMGX4_HUMAN	W	120;120;120;229	ENSP00000401658:R120W;ENSP00000398302:R120W;ENSP00000415500:R120W;ENSP00000216106:R229W	ENSP00000216106:R229W	R	+	1	2	HMGXB4	33991066	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	3.454000	0.52986	2.755000	0.94549	0.650000	0.86243	CGG		0.468	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	
HMOX1	3162	broad.mit.edu	37	22	35782719	35782719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:35782719G>T	ENST00000216117.8	+	3	525	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	62					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E62D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	TGGCCCTGGAGGAGGAGATTG	0.607																																					p.E62D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G186T	22						.						50.0	49.0	49.0					22																	35782719		2203	4300	6503	34112719	SO:0001583	missense	3162	exon3				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.186G>T	22.37:g.35782719G>T	ENSP00000216117:p.Glu62Asp	Somatic		Capture	Illumina HiSeq	Phase_I	34112719	NM_002133		Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775355	0.70107	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.42131	0.98;0.98	5.8	-0.492	0.12041	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64782	-0.6326	10	0.87932	D	0	-34.0314	6.5838	0.22610	0.33:0.0:0.5508:0.1192	.	62	P09601	HMOX1_HUMAN	D	62	ENSP00000413316:E62D;ENSP00000216117:E62D	ENSP00000216117:E62D	E	+	3	2	HMOX1	34112719	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	2.798000	0.47884	0.081000	0.16988	-0.181000	0.13052	GAG		0.607	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1		
MCM5	4174	broad.mit.edu	37	22	35812693	35812693	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:35812693C>T	ENST00000216122.4	+	12	1630	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MCM5_ENST00000382011.5_Silent_p.F449F	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	492	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.F492F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACTCAGTGTTCGGCCGCTGGG	0.577																																					p.F492F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1476T	22						.						98.0	79.0	86.0					22																	35812693		2203	4300	6503	34142693	SO:0001819	synonymous_variant	4174	exon12				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1476C>T	22.37:g.35812693C>T		Somatic		Capture	Illumina HiSeq	Phase_I	34142693	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	CCDS13915.1																																																																																				0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
APOL5	80831	broad.mit.edu	37	22	36113940	36113940	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:36113940A>C	ENST00000249044.2	+	1	22	c.22A>C	c.(22-24)Aat>Cat	p.N8H		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	8					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.N8H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAAACAAGGAAATTTGCAAGT	0.353																																					p.N8H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A22C	22						.						86.0	94.0	91.0					22																	36113940		2203	4300	6503	34443886	SO:0001583	missense	80831	exon1			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.22A>C	22.37:g.36113940A>C	ENSP00000249044:p.Asn8His	Somatic		Capture	Illumina HiSeq	Phase_I	34443886	NM_030642	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	A	9.800	1.180393	0.21787	.	.	ENSG00000128313	ENST00000249044	T	0.04862	3.54	1.43	0.364	0.16124	.	6.626160	0.02417	U	0.082228	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	B	0.43809	0.432	T	0.21348	-1.0248	10	0.25106	T	0.35	.	3.2944	0.06961	0.759:0.0:0.241:0.0	.	8	Q9BWW9	APOL5_HUMAN	H	8	ENSP00000249044:N8H	ENSP00000249044:N8H	N	+	1	0	APOL5	34443886	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.320000	0.08028	0.076000	0.16826	-0.323000	0.08544	AAT		0.353	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	
APOL5	80831	broad.mit.edu	37	22	36122486	36122486	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:36122486C>T	ENST00000249044.2	+	3	371	c.371C>T	c.(370-372)gCg>gTg	p.A124V		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	124					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.A124V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AACACCCTTGCGGACCAAGTT	0.483																																					p.A124V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	22						.						79.0	79.0	79.0					22																	36122486		2203	4300	6503	34452432	SO:0001583	missense	80831	exon3			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.371C>T	22.37:g.36122486C>T	ENSP00000249044:p.Ala124Val	Somatic		Capture	Illumina HiSeq	Phase_I	34452432	NM_030642	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	c	14.38	2.516730	0.44763	.	.	ENSG00000128313	ENST00000249044	T	0.19938	2.11	3.6	1.47	0.22746	.	0.184300	0.33477	N	0.004864	T	0.33904	0.0879	M	0.77103	2.36	0.09310	N	1	D	0.62365	0.991	P	0.54924	0.764	T	0.14980	-1.0453	10	0.72032	D	0.01	.	7.1998	0.25874	0.0:0.7785:0.0:0.2215	.	124	Q9BWW9	APOL5_HUMAN	V	124	ENSP00000249044:A124V	ENSP00000249044:A124V	A	+	2	0	APOL5	34452432	0.039000	0.19947	0.001000	0.08648	0.001000	0.01503	0.621000	0.24418	0.097000	0.17492	-0.735000	0.03563	GCG		0.483	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	
APOL2	23780	broad.mit.edu	37	22	36624107	36624107	+	Silent	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:36624107C>G	ENST00000249066.6	-	6	833	c.357G>C	c.(355-357)gtG>gtC	p.V119V	APOL2_ENST00000358502.5_Silent_p.V119V|APOL2_ENST00000451256.2_Silent_p.V231V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	119					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.V119V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAGAGTTGGACACCACATTGG	0.557																																					p.V119V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357C	22						.						94.0	103.0	100.0					22																	36624107		2202	4299	6501	34954053	SO:0001819	synonymous_variant	23780	exon5			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.357G>C	22.37:g.36624107C>G		Somatic		Capture	Illumina HiSeq	Phase_I	34954053	NM_030882	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	37	CCDS43014.1																																																																																				0.557	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637	
MYH9	4627	broad.mit.edu	37	22	36680169	36680169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:36680169C>T	ENST00000216181.5	-	40	5965	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1912					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R1912H(2)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGACTTCGCGGTTCATGGC	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.R1912H			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G5735A	22						.						72.0	82.0	78.0					22																	36680169		2203	4300	6503	35010115	SO:0001583	missense	4627	exon40	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5735G>A	22.37:g.36680169C>T	ENSP00000216181:p.Arg1912His	Somatic		Capture	Illumina HiSeq	Phase_I	35010115	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142317	0.94560	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79653	-1.29	4.57	4.57	0.56435	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.89414	3.03	0.80722	D	1	P	0.43352	0.804	B	0.43701	0.428	D	0.89797	0.3972	10	0.87932	D	0	.	17.702	0.88298	0.0:1.0:0.0:0.0	.	1912	P35579	MYH9_HUMAN	H	1334;514;1912	ENSP00000216181:R1912H	ENSP00000216181:R1912H	R	-	2	0	MYH9	35010115	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	5.963000	0.70372	2.240000	0.73641	0.305000	0.20034	CGC		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
EIF3D	8664	broad.mit.edu	37	22	36916708	36916708	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:36916708G>A	ENST00000216190.8	-	7	863	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	EIF3D_ENST00000541106.1_Missense_Mutation_p.R116C|EIF3D_ENST00000405442.1_Missense_Mutation_p.R165C	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.R165C(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CAATCACTACGAACTTCAACT	0.383																																					p.R165C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	22						.						106.0	93.0	97.0					22																	36916708		2203	4300	6503	35246654	SO:0001583	missense	8664	exon7			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.493C>T	22.37:g.36916708G>A	ENSP00000216190:p.Arg165Cys	Somatic		Capture	Illumina HiSeq	Phase_I	35246654	NM_003753		Missense_Mutation	SNP	ENST00000216190.8	37	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593953	0.86953	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547;ENST00000457241	.	.	.	6.04	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.964;0.982	T	0.82692	-0.0331	9	0.72032	D	0.01	-9.2796	16.7867	0.85575	0.0:0.0:0.8707:0.1293	.	116;165	B4DVY1;O15371	.;EIF3D_HUMAN	C	165;150;116;165;165;165	.	ENSP00000216190:R165C	R	-	1	0	EIF3D	35246654	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	4.752000	0.62176	2.873000	0.98535	0.561000	0.74099	CGT		0.383	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1		
NCF4	4689	broad.mit.edu	37	22	37260972	37260972	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37260972C>T	ENST00000248899.6	+	3	313	c.129C>T	c.(127-129)atC>atT	p.I43I	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Silent_p.I43I	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	43	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.I43I(2)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TTTTCGTCATCGAGGTGAAGA	0.572																																					p.I43I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C129T	22						.						81.0	67.0	72.0					22																	37260972		2203	4300	6503	35590918	SO:0001819	synonymous_variant	4689	exon3			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.129C>T	22.37:g.37260972C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35590918	NM_013416	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	CCDS13934.1																																																																																				0.572	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	
CSF2RB	1439	broad.mit.edu	37	22	37319321	37319321	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37319321G>A	ENST00000403662.3	+	3	334	c.112G>A	c.(112-114)Gac>Aac	p.D38N	CSF2RB_ENST00000536485.1_5'Flank|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D38N|CSF2RB_ENST00000262825.5_Missense_Mutation_p.D38N			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	38					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.D38N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGCTACAACGACTACACCAG	0.602																																					p.D38N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	22						.						75.0	60.0	65.0					22																	37319321		2203	4300	6503	35649267	SO:0001583	missense	1439	exon3			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.112G>A	22.37:g.37319321G>A	ENSP00000384053:p.Asp38Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35649267	NM_000395	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522455	0.64747	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230	T;T;T	0.72051	-0.62;-0.62;-0.62	3.91	3.91	0.45181	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000975	T	0.81973	0.4936	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.971;0.999	D	0.83825	0.0249	10	0.66056	D	0.02	-27.9332	11.7613	0.51905	0.0:0.0:1.0:0.0	.	38;38	P32927-2;P32927	.;IL3RB_HUMAN	N	38	ENSP00000384053:D38N;ENSP00000262825:D38N;ENSP00000385271:D38N	ENSP00000262825:D38N	D	+	1	0	CSF2RB	35649267	0.994000	0.37717	0.897000	0.35233	0.536000	0.34869	2.389000	0.44407	1.879000	0.54435	0.313000	0.20887	GAC		0.602	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
CSF2RB	1439	broad.mit.edu	37	22	37325570	37325570	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37325570T>C	ENST00000403662.3	+	5	740	c.518T>C	c.(517-519)gTg>gCg	p.V173A	CSF2RB_ENST00000536485.1_Missense_Mutation_p.V114A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V173A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V173A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	173	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V173A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GAGTTTGAGGTGGTCTACAAG	0.632																																					p.V173A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T518C	22						.						86.0	88.0	88.0					22																	37325570		2203	4300	6503	35655516	SO:0001583	missense	1439	exon5			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.518T>C	22.37:g.37325570T>C	ENSP00000384053:p.Val173Ala	Somatic		Capture	Illumina HiSeq	Phase_I	35655516	NM_000395	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916262	0.52546	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.37	5.37	0.77165	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.005240	0.08015	N	0.991092	D	0.82774	0.5110	L	0.46741	1.465	0.36015	D	0.838332	D;D	0.64830	0.992;0.994	D;P	0.65443	0.935;0.788	T	0.79132	-0.1929	10	0.87932	D	0	-12.6141	13.1871	0.59688	0.0:0.0:0.0:1.0	.	173;173	P32927-2;P32927	.;IL3RB_HUMAN	A	173;173;173;173;93;114	ENSP00000384053:V173A;ENSP00000262825:V173A;ENSP00000385271:V173A;ENSP00000393585:V93A;ENSP00000440003:V114A	ENSP00000262825:V173A	V	+	2	0	CSF2RB	35655516	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	4.398000	0.59697	2.148000	0.66965	0.533000	0.62120	GTG		0.632	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
IL2RB	3560	broad.mit.edu	37	22	37535161	37535161	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37535161C>T	ENST00000216223.5	-	5	582	c.384G>A	c.(382-384)gaG>gaA	p.E128E	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	128					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.E128E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACTCACGGTTCTCAAAGGGCT	0.622																																					p.E128E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G384A	22						.						69.0	45.0	53.0					22																	37535161		2203	4300	6503	35865107	SO:0001819	synonymous_variant	3560	exon5			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.384G>A	22.37:g.37535161C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35865107	NM_000878	B2R765	Silent	SNP	ENST00000216223.5	37	CCDS13942.1																																																																																				0.622	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
IL2RB	3560	broad.mit.edu	37	22	37539611	37539611	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37539611A>G	ENST00000216223.5	-	3	351	c.153T>C	c.(151-153)gaT>gaC	p.D51D		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	51					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.D51D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCAGAGCCCCATCTTGGCTCC	0.557																																					p.D51D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T153C	22						.						97.0	82.0	87.0					22																	37539611		2203	4300	6503	35869557	SO:0001819	synonymous_variant	3560	exon3			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.153T>C	22.37:g.37539611A>G		Somatic		Capture	Illumina HiSeq	Phase_I	35869557	NM_000878	B2R765	Silent	SNP	ENST00000216223.5	37	CCDS13942.1																																																																																				0.557	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
GGA1	26088	broad.mit.edu	37	22	38016894	38016894	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38016894A>C	ENST00000343632.4	+	6	888	c.502A>C	c.(502-504)Atc>Ctc	p.I168L	GGA1_ENST00000337437.4_Missense_Mutation_p.I135L|GGA1_ENST00000406772.1_Missense_Mutation_p.I95L|GGA1_ENST00000381756.5_Missense_Mutation_p.I185L|GGA1_ENST00000325180.8_Missense_Mutation_p.I168L	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	168	Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I168L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GAAGAATGTGATCTTTGAAGA	0.537																																					p.I168L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A502C	22						.						117.0	98.0	104.0					22																	38016894		2203	4300	6503	36346840	SO:0001583	missense	26088	exon6			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.502A>C	22.37:g.38016894A>C	ENSP00000341344:p.Ile168Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36346840	NM_001172687	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784148	0.49997	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000429218;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772;ENST00000413251;ENST00000423024	T;T;T;T;T;T	0.30714	2.53;2.25;2.56;1.52;1.55;1.53	5.56	5.56	0.83823	.	0.102760	0.64402	D	0.000003	T	0.27900	0.0687	L	0.54908	1.71	0.80722	D	1	B;P;B	0.35612	0.131;0.512;0.011	B;B;B	0.30251	0.079;0.113;0.013	T	0.05716	-1.0868	10	0.17832	T	0.49	-28.0807	15.6993	0.77533	1.0:0.0:0.0:0.0	.	185;168;168	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	L	168;185;95;168;135;160;95;95;95	ENSP00000341344:I168L;ENSP00000371175:I185L;ENSP00000321288:I168L;ENSP00000338647:I135L;ENSP00000390416:I160L;ENSP00000385287:I95L	ENSP00000321288:I168L	I	+	1	0	GGA1	36346840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.019000	0.64060	2.102000	0.63906	0.460000	0.39030	ATC		0.537	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	
TRIOBP	11078	broad.mit.edu	37	22	38120766	38120766	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38120766C>T	ENST00000406386.3	+	7	2458	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	735					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R735C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCGCAACAGAAC	0.572																																					p.R735C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2203T	22						.						156.0	167.0	164.0					22																	38120766		1953	4161	6114	36450712	SO:0001583	missense	11078	exon7			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2203C>T	22.37:g.38120766C>T	ENSP00000384312:p.Arg735Cys	Somatic		Capture	Illumina HiSeq	Phase_I	36450712	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411807	0.42817	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20463	2.07	4.53	3.5	0.40072	.	.	.	.	.	T	0.10680	0.0261	N	0.08118	0	0.50039	D	0.999843	B	0.25667	0.131	B	0.10450	0.005	T	0.10154	-1.0642	9	0.87932	D	0	.	9.8652	0.41138	0.2168:0.7832:0.0:0.0	.	735	Q9H2D6	TARA_HUMAN	C	735	ENSP00000384312:R735C	ENSP00000384312:R735C	R	+	1	0	TRIOBP	36450712	0.006000	0.16342	0.130000	0.21974	0.080000	0.17528	0.053000	0.14184	1.240000	0.43803	0.558000	0.71614	CGC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
EIF3L	51386	broad.mit.edu	37	22	38273692	38273692	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38273692G>A	ENST00000412331.2	+	11	1671	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	EIF3L_ENST00000381683.6_Silent_p.Q315Q|EIF3L_ENST00000406934.1_Silent_p.Q265Q	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.Q363Q(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTAACAAGCAGAATGAGCAGA	0.547																																					p.Q363Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1089A	22						.						100.0	85.0	90.0					22																	38273692		2203	4300	6503	36603638	SO:0001819	synonymous_variant	51386	exon11			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1089G>A	22.37:g.38273692G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36603638	NM_016091		Silent	SNP	ENST00000412331.2	37	CCDS13960.1																																																																																				0.547	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	
EIF3L	51386	broad.mit.edu	37	22	38282822	38282822	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38282822C>A	ENST00000412331.2	+	12	2208	c.1626C>A	c.(1624-1626)ttC>ttA	p.F542L	EIF3L_ENST00000381683.6_Missense_Mutation_p.F494L|EIF3L_ENST00000406934.1_Missense_Mutation_p.F444L	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.F542L(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGGGGATTTCTTCATCCGTC	0.532																																					p.F542L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1626A	22						.						90.0	70.0	77.0					22																	38282822		2203	4300	6503	36612768	SO:0001583	missense	51386	exon12			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1626C>A	22.37:g.38282822C>A	ENSP00000416892:p.Phe542Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36612768	NM_016091		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818520	0.71028	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934;ENST00000450376	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.06	5.06	0.68205	.	0.141482	0.64402	D	0.000004	T	0.59307	0.2184	M	0.76002	2.32	0.58432	D	0.999995	P;P;P;P	0.46987	0.788;0.566;0.888;0.883	B;B;P;P	0.53102	0.346;0.232;0.528;0.718	T	0.61671	-0.7015	10	0.46703	T	0.11	-13.0939	18.529	0.90984	0.0:1.0:0.0:0.0	.	494;444;542;585	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	L	542;585;494;509;444;54	ENSP00000416892:F542L;ENSP00000371099:F494L;ENSP00000384634:F444L;ENSP00000412349:F54L	ENSP00000262832:F509L	F	+	3	2	EIF3L	36612768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.254000	0.51477	2.363000	0.80096	0.650000	0.86243	TTC		0.532	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	
C22orf23	84645	broad.mit.edu	37	22	38340498	38340498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38340498C>A	ENST00000249079.2	-	6	764	c.508G>T	c.(508-510)Gaa>Taa	p.E170*	C22orf23_ENST00000403305.1_Nonsense_Mutation_p.E170*|C22orf23_ENST00000403026.1_Nonsense_Mutation_p.E170*			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	170								p.E170*(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GCCAGGAATTCTTTCCTCTCC	0.552																																					p.E170X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G508T	22						.						85.0	79.0	81.0					22																	38340498		2203	4300	6503	36670444	SO:0001587	stop_gained	84645	exon6			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.508G>T	22.37:g.38340498C>A	ENSP00000249079:p.Glu170*	Somatic		Capture	Illumina HiSeq	Phase_I	36670444	NM_032561	Q5JYU9|Q96M68	Nonsense_Mutation	SNP	ENST00000249079.2	37	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982647	0.74474	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026	.	.	.	5.42	5.42	0.78866	.	0.200915	0.41938	D	0.000799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-5.1442	13.512	0.61517	0.0:0.9252:0.0:0.0748	.	.	.	.	X	170	.	ENSP00000249079:E170X	E	-	1	0	C22orf23	36670444	0.989000	0.36119	0.641000	0.29422	0.696000	0.40369	3.368000	0.52357	2.552000	0.86080	0.655000	0.94253	GAA		0.552	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561	
TMEM184B	25829	broad.mit.edu	37	22	38617479	38617479	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38617479G>A	ENST00000361906.3	-	9	1429	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TMEM184B_ENST00000504337.1_5'UTR|TMEM184B_ENST00000361684.4_Silent_p.F407F	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	407						integral component of membrane (GO:0016021)		p.F407F(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CCCGCACCTAGAATTCATCAT	0.672																																					p.F341F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1023T	22						.						49.0	43.0	45.0					22																	38617479		2203	4300	6503	36947425	SO:0001819	synonymous_variant	25829	exon10			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.1221C>T	22.37:g.38617479G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36947425	NM_001195072	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Silent	SNP	ENST00000361906.3	37	CCDS13969.2																																																																																				0.672	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264	
KDELR3	11015	broad.mit.edu	37	22	38881997	38881997	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38881997C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Silent_p.G634G|DDX17_ENST00000444597.1_Silent_p.G163G|DDX17_ENST00000396821.3_Silent_p.G713G	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.G711G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					AGGCAGTCTGCCCCATGTAAC	0.517																																					p.G713G	Ovarian(11;103 529 24120 28493 32980)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2139A	22						.						182.0	164.0	170.0					22																	38881997		2203	4300	6503	37211943	SO:0001628	intergenic_variant	10521	exon13			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881997C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37211943	NM_001098504	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	CCDS13972.1																																																																																				0.517	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
DMC1	11144	broad.mit.edu	37	22	38958363	38958363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38958363G>T	ENST00000216024.2	-	5	531	c.255C>A	c.(253-255)ttC>ttA	p.F85L	DMC1_ENST00000428462.2_Missense_Mutation_p.F85L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	85					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.F85L(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ATGCAGTCAAGAATCCTGGTT	0.328								Homologous recombination																													p.F85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C255A	22						.						103.0	101.0	102.0					22																	38958363		2203	4300	6503	37288309	SO:0001583	missense	11144	exon5			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.255C>A	22.37:g.38958363G>T	ENSP00000216024:p.Phe85Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37288309	NM_007068	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509215	0.85282	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.81	4.79	0.61399	DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.984;0.994;0.97	T	0.77664	-0.2503	10	0.87932	D	0	-18.9414	8.8072	0.34945	0.2095:0.0:0.7905:0.0	.	85;85;85	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	L	85	ENSP00000216024:F85L;ENSP00000412703:F85L;ENSP00000391385:F85L;ENSP00000410808:F85L	ENSP00000216024:F85L	F	-	3	2	DMC1	37288309	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	4.163000	0.58183	2.751000	0.94390	0.555000	0.69702	TTC		0.328	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068	
APOBEC3B	9582	broad.mit.edu	37	22	39382080	39382080	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:39382080G>T	ENST00000333467.3	+	3	483	c.438G>T	c.(436-438)acG>acT	p.T146T	APOBEC3B_ENST00000407298.3_Silent_p.T146T|APOBEC3B_ENST00000402182.3_Silent_p.T146T	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	146			T -> K (in dbSNP:rs5995649). {ECO:0000269|PubMed:10469298, ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T146T(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCCGCGTGACGATCATGGACT	0.592																																					p.T146T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G438T	22						.						51.0	55.0	54.0					22																	39382080		2197	4279	6476	37712026	SO:0001819	synonymous_variant	9582	exon3			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.438G>T	22.37:g.39382080G>T		Somatic		Capture	Illumina HiSeq	Phase_I	37712026	NM_004900	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																				0.592	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900	
RPL3	6122	broad.mit.edu	37	22	39712841	39712841	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:39712841T>G	ENST00000216146.4	-	4	544	c.371A>C	c.(370-372)aAa>aCa	p.K124T	SNORD83B_ENST00000386745.1_RNA|SNORD43_ENST00000583861.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.K72T|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	124					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K124T(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTTCTTAGATTTATGCCTTCA	0.562											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K124T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A371C	22						.						62.0	60.0	60.0					22																	39712841		2196	4273	6469	38042787	SO:0001583	missense	6122	exon4			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.371A>C	22.37:g.39712841T>G	ENSP00000346001:p.Lys124Thr	Somatic	887	Capture	Illumina HiSeq	Phase_I	38042787	NM_001033853	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.8|28.8	4.950253|4.950253	0.92660|0.92660	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527;ENST00000453303|ENST00000427905	T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77294|.	0.4109|.	M|M	0.82193|0.82193	2.58|2.58	0.80722|0.80722	D|D	1|1	B;D;B|.	0.61697|.	0.14;0.99;0.087|.	B;D;B|.	0.66847|.	0.279;0.947;0.117|.	T|.	0.79685|.	-0.1700|.	10|.	0.59425|.	D|.	0.04|.	.|.	14.8173|14.8173	0.70045|0.70045	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	95;124;124|.	Q8TBW1;P39023;B3KS36|.	.;RL3_HUMAN;.|.	T|Y	72;124;72;151|155	ENSP00000386101:K72T;ENSP00000346001:K124T;ENSP00000385762:K72T;ENSP00000415198:K151T|.	ENSP00000346001:K124T|.	K|X	-|-	2|3	0|2	RPL3|RPL3	38042787|38042787	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.995000|0.995000	0.86356|0.86356	7.922000|7.922000	0.87538|0.87538	1.922000|1.922000	0.55676|0.55676	0.379000|0.379000	0.24179|0.24179	AAA|TAA		0.562	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967	
ENTHD1	150350	broad.mit.edu	37	22	40161538	40161538	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:40161538G>T	ENST00000325157.6	-	6	1159	c.909C>A	c.(907-909)atC>atA	p.I303I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	303								p.I303I(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TATTTGTAAAGATACCATCTG	0.383																																					p.I303I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909A	22						.						105.0	110.0	108.0					22																	40161538		2203	4298	6501	38491484	SO:0001819	synonymous_variant	150350	exon6			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.909C>A	22.37:g.40161538G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38491484	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																				0.383	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
ADSL	158	broad.mit.edu	37	22	40745911	40745911	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:40745911G>A	ENST00000216194.7	+	2	285	c.229G>A	c.(229-231)Gca>Aca	p.A77T	ADSL_ENST00000342312.6_Missense_Mutation_p.A77T|ADSL_ENST00000454266.2_Missense_Mutation_p.A77T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	77					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.A77T(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTTCAAGATGGCAGCTGAGGA	0.443																																					p.A77T	Colon(4;65 130 1097 1516)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G229A	22						.						134.0	103.0	113.0					22																	40745911		2203	4300	6503	39075857	SO:0001583	missense	158	exon2			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.229G>A	22.37:g.40745911G>A	ENSP00000216194:p.Ala77Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39075857	NM_000026	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525498	0.96431	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95238	-3.64;-3.64;-3.65	5.59	5.59	0.84812	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.92738	3.34	0.80722	D	1	P;P;P;P	0.48764	0.691;0.602;0.915;0.915	P;P;P;P	0.54060	0.468;0.522;0.741;0.741	D	0.98078	1.0402	10	0.87932	D	0	-16.1948	19.6899	0.95996	0.0:0.0:1.0:0.0	.	77;77;77;77	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	T	77	ENSP00000216194:A77T;ENSP00000390107:A77T;ENSP00000341429:A77T	ENSP00000216194:A77T	A	+	1	0	ADSL	39075857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.512000	0.98008	2.648000	0.89879	0.650000	0.86243	GCA		0.443	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
DNAJB7	150353	broad.mit.edu	37	22	41257666	41257666	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41257666G>T	ENST00000307221.4	-	1	464	c.333C>A	c.(331-333)ttC>ttA	p.F111L	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	111							chaperone binding (GO:0051087)	p.F111L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AGTCTTCAAAGAAGTGAAAAG	0.388																																					p.F111L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C333A	22						.						80.0	86.0	84.0					22																	41257666		2201	4300	6501	39587612	SO:0001583	missense	150353	exon1			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.333C>A	22.37:g.41257666G>T	ENSP00000307197:p.Phe111Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39587612	NM_145174	Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545603	0.27652	.	.	ENSG00000172404	ENST00000307221	T	0.79033	-1.23	4.56	1.32	0.21799	.	0.097739	0.43260	N	0.000591	T	0.65749	0.2721	L	0.41710	1.295	0.80722	D	1	B	0.20671	0.047	B	0.23419	0.046	T	0.59016	-0.7533	10	0.54805	T	0.06	.	6.7416	0.23439	0.2926:0.0:0.7074:0.0	.	111	Q7Z6W7	DNJB7_HUMAN	L	111	ENSP00000307197:F111L	ENSP00000307197:F111L	F	-	3	2	DNAJB7	39587612	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	1.089000	0.30890	0.414000	0.25790	0.491000	0.48974	TTC		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174	
XPNPEP3	63929	broad.mit.edu	37	22	41277971	41277971	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41277971T>A	ENST00000357137.4	+	3	463	c.379T>A	c.(379-381)Ttc>Atc	p.F127I	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.F127I|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.F104I|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.F127I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	127					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.F127I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTATGTGGATTCCAAGAGCC	0.468																																					p.F127I	Ovarian(145;306 1841 7037 21878 30110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T379A	22						.						167.0	141.0	150.0					22																	41277971		2203	4300	6503	39607917	SO:0001583	missense	63929	exon3				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.379T>A	22.37:g.41277971T>A	ENSP00000349658:p.Phe127Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39607917	NM_022098	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192921	0.58017	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.136851	0.64402	D	0.000002	D	0.86138	0.5861	M	0.86343	2.81	0.50039	D	0.999846	D;P	0.57571	0.98;0.913	P;B	0.52109	0.69;0.429	D	0.88197	0.2881	10	0.56958	D	0.05	.	16.3907	0.83537	0.0:0.0:0.0:1.0	.	127;127	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	I	127;127;127;104	ENSP00000443682:F127I;ENSP00000397110:F127I;ENSP00000349658:F127I;ENSP00000441942:F104I	ENSP00000349658:F127I	F	+	1	0	XPNPEP3	39607917	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.126000	0.50477	2.269000	0.75478	0.456000	0.33151	TTC		0.468	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	
EP300	2033	broad.mit.edu	37	22	41513347	41513347	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41513347T>C	ENST00000263253.7	+	2	1470	c.251T>C	c.(250-252)tTg>tCg	p.L84S		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	84	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.L84S(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTGTCAGAATTGCTGCGATCT	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.L84S			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T251C	22						.						114.0	107.0	109.0					22																	41513347		2203	4300	6503	39843293	SO:0001583	missense	2033	exon2	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.251T>C	22.37:g.41513347T>C	ENSP00000263253:p.Leu84Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39843293	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468696	0.84533	.	.	ENSG00000100393	ENST00000263253	D	0.86164	-2.08	5.99	5.99	0.97316	.	0.000000	0.35772	N	0.002981	D	0.93242	0.7847	M	0.76838	2.35	0.44956	D	0.997974	D	0.89917	1.0	D	0.91635	0.999	D	0.92641	0.6124	10	0.39692	T	0.17	-4.1036	16.4943	0.84223	0.0:0.0:0.0:1.0	.	84	Q09472	EP300_HUMAN	S	84	ENSP00000263253:L84S	ENSP00000263253:L84S	L	+	2	0	EP300	39843293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.691000	0.84191	2.291000	0.77112	0.533000	0.62120	TTG		0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	broad.mit.edu	37	22	41556696	41556696	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41556696C>A	ENST00000263253.7	+	20	4860	c.3641C>A	c.(3640-3642)tCt>tAt	p.S1214Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1214					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)|p.S1214Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGAGCGTTTCTTTGGGGGAT	0.438			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.S1214Y			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|breast(1)	c.C3641A	22						.						141.0	113.0	123.0					22																	41556696		2203	4300	6503	39886642	SO:0001583	missense	2033	exon20	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3641C>A	22.37:g.41556696C>A	ENSP00000263253:p.Ser1214Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39886642	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923802	0.73213	.	.	ENSG00000100393	ENST00000263253	D	0.84223	-1.82	5.51	5.51	0.81932	.	0.000000	0.48286	D	0.000184	D	0.89543	0.6745	L	0.61218	1.895	0.58432	D	0.99999	D	0.55172	0.97	P	0.54499	0.754	D	0.90273	0.4309	10	0.72032	D	0.01	-9.3686	19.4278	0.94751	0.0:1.0:0.0:0.0	.	1214	Q09472	EP300_HUMAN	Y	1214	ENSP00000263253:S1214Y	ENSP00000263253:S1214Y	S	+	2	0	EP300	39886642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.595000	0.87683	0.557000	0.71058	TCT		0.438	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	broad.mit.edu	37	22	41572350	41572350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41572350C>T	ENST00000263253.7	+	30	6098	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1627	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R1627W(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGGATGGTCGGGATGCGTT	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.R1627W			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	3	Substitution - Missense(3)	urinary_tract(1)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C4879T	22						.						119.0	102.0	108.0					22																	41572350		2203	4300	6503	39902296	SO:0001583	missense	2033	exon30	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4879C>T	22.37:g.41572350C>T	ENSP00000263253:p.Arg1627Trp	Somatic		Capture	Illumina HiSeq	Phase_I	39902296	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861386	0.51482	.	.	ENSG00000100393	ENST00000263253	D	0.93076	-3.16	5.03	3.99	0.46301	.	0.000000	0.46758	D	0.000274	D	0.96935	0.8999	H	0.94620	3.56	0.52099	D	0.99994	D	0.76494	0.999	P	0.57846	0.828	D	0.97750	1.0214	10	0.87932	D	0	-15.4519	14.5885	0.68344	0.1518:0.8482:0.0:0.0	.	1627	Q09472	EP300_HUMAN	W	1627	ENSP00000263253:R1627W	ENSP00000263253:R1627W	R	+	1	2	EP300	39902296	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	4.864000	0.62990	1.184000	0.42957	0.650000	0.86243	CGG		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
L3MBTL2	83746	broad.mit.edu	37	22	41620226	41620226	+	Missense_Mutation	SNP	G	G	A	rs368347054		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:41620226G>A	ENST00000216237.5	+	9	1303	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	382					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R382Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTTGGTCACGACGTGTGGGC	0.622																																					p.R382Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	22						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	48.0	49.0		1145	5.4	1.0	22		49	0,8600		0,0,4300	no	missense	L3MBTL2	NM_031488.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	382/706	41620226	1,13005	2203	4300	6503	39950172	SO:0001583	missense	83746	exon9			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1145G>A	22.37:g.41620226G>A	ENSP00000216237:p.Arg382Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39950172	NM_031488	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666265	0.47677	2.27E-4	0.0	ENSG00000100395	ENST00000216237	T	0.29397	1.57	5.43	5.43	0.79202	.	0.302502	0.35124	N	0.003428	T	0.13543	0.0328	N	0.11255	0.115	0.09310	N	0.999997	P;B	0.42039	0.769;0.175	B;B	0.30179	0.078;0.112	T	0.17899	-1.0354	10	0.20046	T	0.44	.	13.5269	0.61601	0.0747:0.0:0.9253:0.0	.	382;382	Q969R5-3;Q969R5	.;LMBL2_HUMAN	Q	382	ENSP00000216237:R382Q	ENSP00000216237:R382Q	R	+	2	0	L3MBTL2	39950172	0.207000	0.23482	0.993000	0.49108	0.939000	0.58152	2.607000	0.46300	2.564000	0.86499	0.655000	0.94253	CGA		0.622	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488	
XRCC6	2547	broad.mit.edu	37	22	42042972	42042972	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42042972G>T	ENST00000359308.4	+	6	1501	c.846G>T	c.(844-846)aaG>aaT	p.K282N	XRCC6_ENST00000360079.3_Missense_Mutation_p.K282N|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405878.1_Missense_Mutation_p.K282N|XRCC6_ENST00000405506.1_Missense_Mutation_p.K232N|XRCC6_ENST00000402580.3_Missense_Mutation_p.K241N|XRCC6_ENST00000428575.2_Missense_Mutation_p.K149N			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	282	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.K282N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGGCTCTCAAGCCTCCTCCAA	0.433								Non-homologous end-joining																													p.K282N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G846T	22						.						122.0	133.0	129.0					22																	42042972		2203	4300	6503	40372918	SO:0001583	missense	2547	exon7			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.846G>T	22.37:g.42042972G>T	ENSP00000352257:p.Lys282Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40372918	NM_001469	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716735	0.68844	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	3.95	0.45737	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);	0.247838	0.47455	D	0.000229	T	0.71937	0.3399	M	0.87758	2.905	0.48185	D	0.999606	D;D;D;D	0.61697	0.99;0.974;0.962;0.983	D;D;P;D	0.66084	0.926;0.941;0.82;0.926	T	0.70557	-0.4839	9	0.26408	T	0.33	-9.3102	6.1417	0.20263	0.3331:0.0:0.6669:0.0	.	232;282;241;282	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	N	282;241;149;282;282;282;232	.	ENSP00000352257:K282N	K	+	3	2	XRCC6	40372918	1.000000	0.71417	0.652000	0.29579	0.976000	0.68499	0.781000	0.26774	1.123000	0.41961	0.655000	0.94253	AAG		0.433	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	
SEPT3	55964	broad.mit.edu	37	22	42383642	42383642	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42383642A>G	ENST00000396426.3	+	5	685	c.430A>G	c.(430-432)Aag>Gag	p.K144E	SEPT3_ENST00000328414.8_Silent_p.R73R|SEPT3_ENST00000406029.1_Missense_Mutation_p.K80E|SEPT3_ENST00000396425.3_Missense_Mutation_p.K144E|SEPT3_ENST00000291236.11_Missense_Mutation_p.K80E	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	144	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.K144E(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GCCCATTGAGAAGTACATCAA	0.498																																					p.K144E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430G	22						.						165.0	126.0	139.0					22																	42383642		2203	4300	6503	40713588	SO:0001583	missense	55964	exon5			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.430A>G	22.37:g.42383642A>G	ENSP00000379704:p.Lys144Glu	Somatic		Capture	Illumina HiSeq	Phase_I	40713588	NM_145733	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458510	0.84317	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	N	0.12182	0.205	0.80722	D	1	D;B;D;D	0.69078	0.997;0.004;0.996;0.997	D;B;D;D	0.79108	0.989;0.017;0.981;0.992	T	0.40194	-0.9576	10	0.12430	T	0.62	.	15.2467	0.73511	1.0:0.0:0.0:0.0	.	80;80;144;144	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	E	131;144;80;144;80	ENSP00000391416:K131E;ENSP00000379704:K144E;ENSP00000383956:K80E;ENSP00000379703:K144E;ENSP00000291236:K80E	ENSP00000291236:K80E	K	+	1	0	SEPT3	40713588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.067000	0.61834	0.421000	0.28195	AAG		0.498	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734	
TCF20	6942	broad.mit.edu	37	22	42606525	42606525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42606525C>T	ENST00000359486.3	-	1	4923	c.4787G>A	c.(4786-4788)cGa>cAa	p.R1596Q	TCF20_ENST00000335626.4_Missense_Mutation_p.R1596Q|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1596Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTTGGTTTTTCGCTTCCTCGG	0.502																																					p.R1596Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4787A	22						.						146.0	139.0	142.0					22																	42606525		2203	4300	6503	40936469	SO:0001583	missense	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4787G>A	22.37:g.42606525C>T	ENSP00000352463:p.Arg1596Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40936469	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874518	0.72180	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.63744	-0.06;-0.06	5.85	4.83	0.62350	.	0.095986	0.44688	D	0.000432	T	0.76154	0.3948	M	0.68952	2.095	0.80722	D	1	P;D	0.69078	0.943;0.997	P;D	0.66716	0.584;0.946	T	0.78881	-0.2029	10	0.62326	D	0.03	-22.4868	15.1545	0.72730	0.0:0.9322:0.0:0.0678	.	1596;1596	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Q	1596	ENSP00000352463:R1596Q;ENSP00000335561:R1596Q	ENSP00000335561:R1596Q	R	-	2	0	TCF20	40936469	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.575000	0.60908	1.477000	0.48234	0.655000	0.94253	CGA		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
TCF20	6942	broad.mit.edu	37	22	42611209	42611209	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42611209C>T	ENST00000359486.3	-	1	239	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	TCF20_ENST00000335626.4_Missense_Mutation_p.A35T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A35T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACATCTGGGCCTGACGAGGG	0.592																																					p.A35T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103A	22						.						70.0	55.0	60.0					22																	42611209		2203	4300	6503	40941153	SO:0001583	missense	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.103G>A	22.37:g.42611209C>T	ENSP00000352463:p.Ala35Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40941153	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565962	0.45694	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.12;0.12	5.52	4.5	0.54988	.	0.000000	0.64402	D	0.000002	T	0.42743	0.1216	N	0.24115	0.695	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.003	T	0.22452	-1.0216	10	0.19147	T	0.46	-4.7534	14.2997	0.66339	0.0:0.9286:0.0:0.0713	.	35;35	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	T	35	ENSP00000352463:A35T;ENSP00000335561:A35T	ENSP00000335561:A35T	A	-	1	0	TCF20	40941153	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.645000	0.37238	1.345000	0.45676	-0.136000	0.14681	GCC		0.592	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
ARFGAP3	26286	broad.mit.edu	37	22	43195097	43195097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:43195097G>A	ENST00000263245.5	-	15	1700	c.1481C>T	c.(1480-1482)tCg>tTg	p.S494L	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S422L|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S450L	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	494					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.S494L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCCAGCAACCGATCTCACTCC	0.547																																					p.S494L	GBM(58;544 1030 21460 27159 48838)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1481T	22						.						200.0	175.0	183.0					22																	43195097		2203	4300	6503	41525041	SO:0001583	missense	26286	exon15			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1481C>T	22.37:g.43195097G>A	ENSP00000263245:p.Ser494Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41525041	NM_014570	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571759	0.86542	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119	T;T;T	0.06449	3.45;3.3;3.42	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	M	0.85542	2.76	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.83275	0.921;0.996	T	0.06607	-1.0817	10	0.72032	D	0.01	.	14.44	0.67309	0.0:0.0:1.0:0.0	.	450;494	E9PB03;Q9NP61	.;ARFG3_HUMAN	L	494;422;450	ENSP00000263245:S494L;ENSP00000393959:S422L;ENSP00000388791:S450L	ENSP00000263245:S494L	S	-	2	0	ARFGAP3	41525041	1.000000	0.71417	0.049000	0.19019	0.967000	0.64934	7.962000	0.87912	2.130000	0.65690	0.655000	0.94253	TCG		0.547	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
PACSIN2	11252	broad.mit.edu	37	22	43284694	43284694	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:43284694C>A	ENST00000263246.3	-	5	765	c.564G>T	c.(562-564)aaG>aaT	p.K188N	PACSIN2_ENST00000402229.1_Missense_Mutation_p.K188N|PACSIN2_ENST00000407585.1_Missense_Mutation_p.K188N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.K188N|PACSIN2_ENST00000337959.4_Missense_Mutation_p.K188N	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	188	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.K188N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTTGCAATTTCTTGAGCTGTT	0.463																																					p.K188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	22						.						274.0	261.0	265.0					22																	43284694		2034	4176	6210	41614638	SO:0001583	missense	11252	exon5			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.564G>T	22.37:g.43284694C>A	ENSP00000263246:p.Lys188Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41614638	NM_001184971	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314081	0.81358	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.23	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.87547	2.89	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.65874	0.874;0.939	T	0.48937	-0.8990	10	0.59425	D	0.04	-9.5964	13.5684	0.61832	0.0:0.9248:0.0:0.0751	.	188;188	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	N	188	ENSP00000263246:K188N;ENSP00000338379:K188N;ENSP00000385952:K188N;ENSP00000385372:K188N;ENSP00000385040:K188N	ENSP00000263246:K188N	K	-	3	2	PACSIN2	41614638	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.166000	0.50785	2.625000	0.88918	0.650000	0.86243	AAG		0.463	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229	
TTLL1	25809	broad.mit.edu	37	22	43442424	43442424	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:43442424G>A	ENST00000266254.7	-	10	1374	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.Y349Y	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	378					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.Y378Y(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACAGAATCTCGTAATTGCCGA	0.498																																					p.Y378Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1134T	22						.						385.0	301.0	329.0					22																	43442424		2203	4300	6503	41772368	SO:0001819	synonymous_variant	25809	exon10			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1134C>T	22.37:g.43442424G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41772368	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	8.598	0.886072	0.17540	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.55	-4.14	0.03892	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65228	-0.6219	4	.	.	.	.	15.8362	0.78799	0.3301:0.0:0.6699:0.0	.	.	.	.	M	304	.	.	T	-	2	0	TTLL1	41772368	0.008000	0.16893	0.578000	0.28575	0.885000	0.51271	-0.842000	0.04354	-0.910000	0.03847	0.555000	0.69702	ACG		0.498	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	
SAMM50	25813	broad.mit.edu	37	22	44368176	44368176	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:44368176T>C	ENST00000350028.4	+	5	540	c.383T>C	c.(382-384)tTa>tCa	p.L128S	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	128					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.L128S(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTGAGGAGATTAACGGGCAGT	0.363																																					p.L128S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	22						.						133.0	125.0	128.0					22																	44368176		2203	4300	6503	42699509	SO:0001583	missense	25813	exon5			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.383T>C	22.37:g.44368176T>C	ENSP00000345445:p.Leu128Ser	Somatic		Capture	Illumina HiSeq	Phase_I	42699509	NM_015380	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	T	33	5.250468	0.95305	.	.	ENSG00000100347	ENST00000350028	T	0.33865	1.39	5.07	5.07	0.68467	.	0.126422	0.52532	D	0.000072	T	0.38799	0.1054	M	0.65975	2.015	0.80722	D	1	P	0.41597	0.756	B	0.41374	0.355	T	0.20840	-1.0263	10	0.21540	T	0.41	-14.5639	14.3044	0.66375	0.0:0.0:0.0:1.0	.	128	Q9Y512	SAM50_HUMAN	S	128	ENSP00000345445:L128S	ENSP00000345445:L128S	L	+	2	0	SAMM50	42699509	1.000000	0.71417	0.006000	0.13384	0.832000	0.47134	7.747000	0.85070	2.043000	0.60533	0.533000	0.62120	TTA		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380	
PARVG	64098	broad.mit.edu	37	22	44594538	44594538	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:44594538A>G	ENST00000444313.3	+	12	1233	c.749A>G	c.(748-750)cAa>cGa	p.Q250R	PARVG_ENST00000415224.1_Missense_Mutation_p.Q250R|PARVG_ENST00000422871.1_Missense_Mutation_p.Q250R	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	250	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.Q250R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CTGATTGGACAACTTGAAGGC	0.443																																					p.Q250R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A749G	22						.						262.0	246.0	252.0					22																	44594538		2203	4300	6503	42925871	SO:0001583	missense	64098	exon12			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.749A>G	22.37:g.44594538A>G	ENSP00000391583:p.Gln250Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42925871	NM_001137606	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250544	0.39797	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.95001	-3.58;-3.58;-3.58	4.92	4.92	0.64577	Calponin homology domain (5);	0.151879	0.45867	N	0.000325	D	0.91002	0.7170	L	0.39397	1.21	0.38489	D	0.947915	B	0.21225	0.053	B	0.24848	0.056	D	0.89237	0.3581	10	0.56958	D	0.05	-17.1597	10.9462	0.47301	1.0:0.0:0.0:0.0	.	250	Q9HBI0	PARVG_HUMAN	R	250	ENSP00000391453:Q250R;ENSP00000391583:Q250R;ENSP00000416761:Q250R	ENSP00000416761:Q250R	Q	+	2	0	PARVG	42925871	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	6.132000	0.71676	1.838000	0.53458	0.397000	0.26171	CAA		0.443	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
ARHGAP8	23779	broad.mit.edu	37	22	45258273	45258273	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:45258273A>C	ENST00000389774.2	+	13	1334	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.N489T|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.N577T|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.N367T|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.N498T|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.N577T	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	398	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.N403T(1)|p.N398T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GTGCCCCTGAACATGTTCACT	0.562																																					p.N489T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1466C	22						.						69.0	65.0	66.0					22																	45258273		2203	4300	6503	43636937	SO:0001583	missense	553158	exon15			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.1193A>C	22.37:g.45258273A>C	ENSP00000374424:p.Asn398Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43636937	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.07|18.07	3.540826|3.540826	0.65085|0.65085	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000356099|ENST00000515632	T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97|.	3.7|3.7	3.7|3.7	0.42460|0.42460	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.000000|.	0.41938|.	D|.	0.000797|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.80028|0.80028	2.48|2.48	0.44104|0.44104	D|D	0.99687|0.99687	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.979;0.999;0.999|.	D;D;P;P;D|.	0.81914|.	0.944;0.995;0.908;0.9;0.944|.	T|T	0.75193|0.75193	-0.3404|-0.3404	10|5	0.87932|.	D|.	0|.	.|.	11.3745|11.3745	0.49719|0.49719	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	420;403;398;577;498|.	B7ZMA4;A2RU51;P85298;B1AHC4;B1AHC3|.	.;.;RHG08_HUMAN;.;.|.	T|P	498;577;577;489;398;367|438	ENSP00000354732:N498T;ENSP00000262731:N577T;ENSP00000429240:N577T;ENSP00000374423:N489T;ENSP00000374424:N398T;ENSP00000348407:N367T|.	ENSP00000348407:N367T|.	N|T	+|+	2|1	0|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43636937|43636937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.820000|0.820000	0.46376|0.46376	6.964000|6.964000	0.76061|0.76061	1.656000|1.656000	0.50722|0.50722	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.562	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701	
SMC1B	27127	broad.mit.edu	37	22	45779389	45779389	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:45779389C>A	ENST00000357450.4	-	12	2015	c.2016G>T	c.(2014-2016)aaG>aaT	p.K672N	SMC1B_ENST00000404354.3_Missense_Mutation_p.K672N	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	672					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.K672N(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTCTTAGATTCTTTAACTCTT	0.338																																					p.K672N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2016T	22						.						183.0	170.0	174.0					22																	45779389		1824	4078	5902	44158053	SO:0001583	missense	27127	exon12			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2016G>T	22.37:g.45779389C>A	ENSP00000350036:p.Lys672Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44158053	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707879	0.15239	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86164	-2.08;-2.08	6.08	1.37	0.22104	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.311774	0.26590	N	0.023523	T	0.63010	0.2475	N	0.02539	-0.55	0.29110	N	0.880931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.53215	-0.8470	10	0.29301	T	0.29	.	2.583	0.04823	0.1523:0.3106:0.3756:0.1615	.	672;672;672	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	N	672	ENSP00000350036:K672N;ENSP00000385902:K672N	ENSP00000350036:K672N	K	-	3	2	SMC1B	44158053	0.722000	0.28017	0.996000	0.52242	0.999000	0.98932	0.775000	0.26689	0.430000	0.26230	0.655000	0.94253	AAG		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
SMC1B	27127	broad.mit.edu	37	22	45795014	45795014	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:45795014A>C	ENST00000357450.4	-	6	1073	c.1074T>G	c.(1072-1074)atT>atG	p.I358M	SMC1B_ENST00000404354.3_Missense_Mutation_p.I358M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	358					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.I358M(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTTATGTAAAATTTCTTCCT	0.373																																					p.I358M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1074G	22						.						138.0	127.0	131.0					22																	45795014		1818	4083	5901	44173678	SO:0001583	missense	27127	exon6			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1074T>G	22.37:g.45795014A>C	ENSP00000350036:p.Ile358Met	Somatic		Capture	Illumina HiSeq	Phase_I	44173678	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.288668	0.23478	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79653	-1.29;-1.13	5.7	-0.492	0.12041	RecF/RecN/SMC (1);	0.494819	0.19089	N	0.123037	T	0.60170	0.2248	N	0.21373	0.66	0.21527	N	0.999658	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.16289	0.001;0.015;0.009	T	0.46679	-0.9174	10	0.46703	T	0.11	.	0.8759	0.01223	0.3317:0.2675:0.25:0.1508	.	358;358;358	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	M	358	ENSP00000350036:I358M;ENSP00000385902:I358M	ENSP00000350036:I358M	I	-	3	3	SMC1B	44173678	0.002000	0.14202	0.715000	0.30552	0.878000	0.50629	-0.389000	0.07342	0.059000	0.16252	-0.242000	0.12053	ATT		0.373	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
RIBC2	26150	broad.mit.edu	37	22	45818271	45818271	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:45818271G>T	ENST00000342894.3	+	4	853	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.D215Y			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	147						nucleus (GO:0005634)		p.D147Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCTGTGAAAGACTTCAACAA	0.577																																					p.K214N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G642T	22						.						229.0	215.0	219.0					22																	45818271		2203	4300	6503	44196935	SO:0001583	missense	26150	exon4			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.439G>T	22.37:g.45818271G>T	ENSP00000342529:p.Asp147Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	44196935	NM_015653	Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37		.	.	.	.	.	.	.	.	.	.	G	13.79	2.342894	0.41498	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.26067	1.76;1.76	4.19	3.18	0.36537	.	0.545115	0.18930	N	0.127236	T	0.43897	0.1268	.	.	.	0.35968	D	0.835134	D	0.67145	0.996	D	0.65573	0.936	T	0.53092	-0.8487	9	0.52906	T	0.07	-8.0599	8.4713	0.32986	0.0843:0.0:0.761:0.1547	.	147	Q9H4K1	RIBC2_HUMAN	Y	147;215	ENSP00000342529:D147Y;ENSP00000444196:D215Y	ENSP00000342529:D147Y	D	+	1	0	RIBC2	44196935	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	2.263000	0.43293	1.114000	0.41781	-0.127000	0.14921	GAC		0.577	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653	
PKDREJ	10343	broad.mit.edu	37	22	46654026	46654026	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:46654026G>A	ENST00000253255.5	-	1	5193	c.5194C>T	c.(5194-5196)Cgt>Tgt	p.R1732C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1732					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R1732C(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCAGTGTGACGTAGTAAGACG	0.393																																					p.R1732C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5194T	22						.						123.0	110.0	114.0					22																	46654026		2203	4300	6503	45032690	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5194C>T	22.37:g.46654026G>A	ENSP00000253255:p.Arg1732Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45032690	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120319	0.20877	.	.	ENSG00000130943	ENST00000253255	T	0.41065	1.01	4.8	1.16	0.20824	.	0.907068	0.09275	N	0.824635	T	0.50922	0.1644	M	0.80422	2.495	0.09310	N	1	D	0.76494	0.999	P	0.53146	0.719	T	0.38436	-0.9661	10	0.39692	T	0.17	-8.0076	3.3271	0.07071	0.0924:0.2917:0.4448:0.1711	.	1732	Q9NTG1	PKDRE_HUMAN	C	1732	ENSP00000253255:R1732C	ENSP00000253255:R1732C	R	-	1	0	PKDREJ	45032690	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.168000	0.16622	0.521000	0.28445	-0.680000	0.03767	CGT		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46654818	46654818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:46654818G>A	ENST00000253255.5	-	1	4401	c.4402C>T	c.(4402-4404)Cct>Tct	p.P1468S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1468					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.P1468S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACATTAGAGGATGCTTTTGA	0.438																																					p.P1468S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4402T	22						.						113.0	107.0	109.0					22																	46654818		2203	4300	6503	45033482	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4402C>T	22.37:g.46654818G>A	ENSP00000253255:p.Pro1468Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45033482	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410931	0.25465	.	.	ENSG00000130943	ENST00000253255	T	0.34859	1.34	4.95	1.6	0.23607	.	0.000000	0.49305	D	0.000156	T	0.19525	0.0469	N	0.25485	0.75	0.09310	N	1	P	0.37781	0.608	B	0.35813	0.211	T	0.13388	-1.0511	10	0.21014	T	0.42	-15.672	6.1817	0.20476	0.1701:0.1523:0.6776:0.0	.	1468	Q9NTG1	PKDRE_HUMAN	S	1468	ENSP00000253255:P1468S	ENSP00000253255:P1468S	P	-	1	0	PKDREJ	45033482	0.061000	0.20836	0.007000	0.13788	0.020000	0.10135	0.803000	0.27083	0.202000	0.20498	0.561000	0.74099	CCT		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TTC38	55020	broad.mit.edu	37	22	46674532	46674532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:46674532G>A	ENST00000381031.3	+	6	665	c.589G>A	c.(589-591)Gac>Aac	p.D197N	TTC38_ENST00000445282.2_Missense_Mutation_p.D139N	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	197						extracellular vesicular exosome (GO:0070062)		p.D197N(2)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CAACTTCTACGACCAGGCAGA	0.478																																					p.D197N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G589A	22						.						97.0	98.0	98.0					22																	46674532		1915	4130	6045	45053196	SO:0001583	missense	55020	exon6				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.589G>A	22.37:g.46674532G>A	ENSP00000370419:p.Asp197Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45053196	NM_017931	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640929	0.67244	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	T;T	0.77358	1.43;-1.09	5.59	5.59	0.84812	Tetratricopeptide-like helical (1);	0.042807	0.85682	D	0.000000	T	0.80798	0.4692	M	0.81942	2.565	0.80722	D	1	P;D	0.54964	0.937;0.969	B;B	0.42555	0.391;0.345	D	0.83727	0.0196	10	0.51188	T	0.08	-3.145	18.5938	0.91223	0.0:0.0:1.0:0.0	.	139;197	E7ES35;Q5R3I4	.;TTC38_HUMAN	N	197;139;197	ENSP00000370419:D197N;ENSP00000393960:D139N	ENSP00000370419:D197N	D	+	1	0	TTC38	45053196	1.000000	0.71417	0.144000	0.22314	0.558000	0.35554	9.000000	0.93564	2.625000	0.88918	0.655000	0.94253	GAC		0.478	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	
HIRA	7290	broad.mit.edu	37	22	19348752	19348752	+	Intron	SNP	G	G	T	rs112954166	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:19348752G>T	ENST00000263208.5	-	17	2342				HIRA_ENST00000546308.1_Intron|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAGGGTCCTAGAACTTACCTG	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						112.0	105.0	107.0					22																	19348752		2203	4300	6503	17728752	SO:0001627	intron_variant	7290	.			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2085+7C>A	22.37:g.19348752G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17728752	.	Q05BU9|Q8IXN2	Intron	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																				0.527	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
UFD1L	7353	broad.mit.edu	37	22	19438185	19438185	+	3'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:19438185G>A	ENST00000263202.10	-	0	1061				UFD1L_ENST00000360834.4_3'UTR|UFD1L_ENST00000399523.1_3'UTR|C22orf39_ENST00000333059.5_5'Flank|AC000068.5_ENST00000431090.1_RNA|C22orf39_ENST00000399562.4_5'Flank|C22orf39_ENST00000542103.1_5'Flank|HIRA_ENST00000546308.1_5'Flank|C22orf39_ENST00000399568.1_5'Flank|HIRA_ENST00000541063.1_5'Flank	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					TCAGCCAACAGTCCTCACTTA	0.433																																					.												.	.	0			.	22						.						132.0	131.0	132.0					22																	19438185		2203	4300	6503	17818185	SO:0001624	3_prime_UTR_variant	7353	.			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.*8C>T	22.37:g.19438185G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17818185	.	A8MW31|Q9Y5N0	3'UTR	SNP	ENST00000263202.10	37	CCDS13761.1																																																																																				0.433	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		
UBE2L3	7332	broad.mit.edu	37	22	21975794	21975794	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:21975794C>A	ENST00000342192.4	+	4	508				UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3						cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)	UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					CCTTGTCCTTCTCTTGGCAGT	0.512																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						39.0	38.0	38.0					22																	21975794		2203	4300	6503	20305794	SO:0001627	intron_variant	7332	.			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.311-10C>A	22.37:g.21975794C>A		Somatic		Capture	Illumina HiSeq	Phase_I	20305794	.	B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Intron	SNP	ENST00000342192.4	37	CCDS13790.1																																																																																				0.512	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157	
MAPK1	5594	broad.mit.edu	37	22	22123487	22123487	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22123487A>C	ENST00000215832.6	-	0	1277				MAPK1_ENST00000398822.3_3'UTR|MAPK1_ENST00000491588.1_5'UTR	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CAGGTACCTGACAAATTTAAG	0.388																																					.												.	.	0			.	22						.						87.0	83.0	84.0					22																	22123487		2203	4300	6503	20453487	SO:0001624	3_prime_UTR_variant	5594	.			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.*6T>G	22.37:g.22123487A>C		Somatic		Capture	Illumina HiSeq	Phase_I	20453487	.	A8CZ64	3'UTR	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																				0.388	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
IGLV7-46	28775	broad.mit.edu	37	22	22724350	22724350	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22724350G>A	ENST00000390295.2	+	0	280									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		CACCTGCCCGGTTCTCAGGCT	0.557																																					.												.	.	0			.	22						.						42.0	43.0	42.0					22																	22724350		1902	4106	6008	21054350			0	.			Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724350G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21054350	.		IGR	SNP	ENST00000390295.2	37																																																																																					0.557	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002	
IGLV5-45	28781	broad.mit.edu	37	22	22730763	22730763	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:22730763C>A	ENST00000390296.2	+	0	286									immunoglobulin lambda variable 5-45																		TCCCCAGCCGCTTCTCTGGAT	0.517																																					.												.	.	0			.	22						.						81.0	83.0	82.0					22																	22730763		1882	4117	5999	21060763			0	.			Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730763C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21060763	.		IGR	SNP	ENST00000390296.2	37																																																																																					0.517	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321114.2	NG_000002	
IGLV3-27	28791	broad.mit.edu	37	22	23011091	23011091	+	RNA	SNP	C	C	T	rs542783344		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:23011091C>T	ENST00000390304.2	+	0	192									immunoglobulin lambda variable 3-27																		AAAATATGCTCGGTGGTTCCA	0.572													.|||	1	0.000199681	0.0	0.0	5008	,	,		16660	0.0		0.0	False		,,,				2504	0.001				.												.	.	0			.	22						.						63.0	64.0	63.0					22																	23011091		1902	4118	6020	21341091			0	.			D86994		22q11.2	2012-02-08			ENSG00000211658	ENSG00000211658		"""Immunoglobulins / IGL locus"""	5910	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151171		22.37:g.23011091C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21341091	.		IGR	SNP	ENST00000390304.2	37																																																																																					0.572	IGLV3-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321641.1	NG_000002	
IGLV3-16	28799	broad.mit.edu	37	22	23090307	23090307	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:23090307C>A	ENST00000390311.2	+	0	284									immunoglobulin lambda variable 3-16																		GATTCTCTGGCTCCAGCTCAG	0.507																																					.												.	.	0			.	22						.						61.0	62.0	61.0					22																	23090307		1924	4141	6065	21420307			0	.			X97471		22q11.2	2012-02-08			ENSG00000211665	ENSG00000211665		"""Immunoglobulins / IGL locus"""	5901	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151231		22.37:g.23090307C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21420307	.		IGR	SNP	ENST00000390311.2	37																																																																																					0.507	IGLV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321835.1	NG_000002	
UPB1	51733	broad.mit.edu	37	22	24898307	24898307	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:24898307C>A	ENST00000326010.5	+	3	708				UPB1_ENST00000382760.2_Missense_Mutation_p.L123I|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.L123I(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATGGAAAGTTCTCCGTCCACA	0.488																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	22						.						33.0	31.0	32.0					22																	24898307		876	1991	2867	23228307	SO:0001627	intron_variant	51733	.			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.364+126C>A	22.37:g.24898307C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23228307	.	A3KMF8|Q9UIR3	Intron	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	8.068	0.769537	0.15983	.	.	ENSG00000100024	ENST00000382760;ENST00000426507	D	0.84223	-1.82	2.77	-2.76	0.05896	.	.	.	.	.	T	0.79741	0.4498	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.70200	-0.4937	6	0.66056	D	0.02	.	4.2909	0.10878	0.3423:0.4612:0.0:0.1965	.	.	.	.	I	123	ENSP00000372208:L123I	ENSP00000372208:L123I	L	+	1	0	UPB1	23228307	0.002000	0.14202	0.002000	0.10522	0.020000	0.10135	-0.065000	0.11617	-0.937000	0.03719	-1.731000	0.00696	CTC		0.488	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
SEZ6L	23544	broad.mit.edu	37	22	26747011	26747011	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:26747011C>A	ENST00000248933.6	+	12	2502				SEZ6L_ENST00000402979.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000404234.3_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGTTTCATCCCGTGTAGTTAT	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						76.0	66.0	69.0					22																	26747011		2203	4300	6503	25077011	SO:0001627	intron_variant	23544	.			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2408-7C>A	22.37:g.26747011C>A		Somatic		Capture	Illumina HiSeq	Phase_I	25077011	.	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Intron	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.527	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
OSM	5008	broad.mit.edu	37	22	30661134	30661134	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:30661134C>T	ENST00000215781.2	-	2	75		c.e2-1		OSM_ENST00000403463.1_Intron|OSM_ENST00000403389.1_Splice_Site	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M						behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)	p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGACCAGACCTAAGGCAGAG	0.587																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						105.0	104.0	105.0					22																	30661134		2203	4300	6503	28991134	SO:0001630	splice_region_variant	5008	.			AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.35-1G>A	22.37:g.30661134C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28991134	.	Q6FHP8|Q9UCP6	Splice_Site	SNP	ENST00000215781.2	37	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279646	0.23307	.	.	ENSG00000099985	ENST00000215781	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6009	0.51001	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSM	28991134	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	3.308000	0.51896	2.455000	0.83008	0.561000	0.74099	.		0.587	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530	Intron
EIF4ENIF1	56478	broad.mit.edu	37	22	31846353	31846353	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:31846353G>T	ENST00000397525.1	-	11	1736				EIF4ENIF1_ENST00000397523.1_Intron|EIF4ENIF1_ENST00000382180.2_Intron|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Intron	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1							cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCGCTAAAAGAGTCAAAAGA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						97.0	97.0	97.0					22																	31846353		2203	4300	6503	30176353	SO:0001627	intron_variant	56478	.			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1513-7C>A	22.37:g.31846353G>T		Somatic		Capture	Illumina HiSeq	Phase_I	30176353	.	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Intron	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																				0.403	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
Unknown	0	broad.mit.edu	37	22	32435873	32435873	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:32435873G>A								RN7SL305P (58459 upstream) : SLC5A1 (3145 downstream)																							ATGCCTCGGGGACCTGTTTGA	0.383																																					.												.	.	0			.	22						.						59.0	67.0	64.0					22																	32435873		2202	4300	6502	30765873	SO:0001628	intergenic_variant	0	.																															22.37:g.32435873G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30765873	.		IGR	SNP		37																																																																																				0	0.383								
TMPRSS6	164656	broad.mit.edu	37	22	37499249	37499249	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:37499249A>C	ENST00000346753.3	-	2	346				TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000406856.1_Intron|TMPRSS6_ENST00000406725.1_Intron|TMPRSS6_ENST00000442782.2_Intron	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6						angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGGTCCCACAACGTTACCTAG	0.632																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						35.0	33.0	34.0					22																	37499249		2203	4300	6503	35829195	SO:0001627	intron_variant	164656	.			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.229+6T>G	22.37:g.37499249A>C		Somatic		Capture	Illumina HiSeq	Phase_I	35829195	.	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Intron	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																				0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
POLR2F	5435	broad.mit.edu	37	22	38421920	38421920	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38421920A>G	ENST00000407936.1	+	6	543							P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.D54G(1)		breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					catgggatggactcaggagcg	0.517																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	22						.						79.0	65.0	69.0					22																	38421920		876	1991	2867	36751866	SO:0001627	intron_variant	0	.				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000407936.1:c.453-15155A>G	22.37:g.38421920A>G		Somatic		Capture	Illumina HiSeq	Phase_I	36751866	.	P41584|Q6IAY3	IGR	SNP	ENST00000407936.1	37																																																																																					0.517	POLR2F-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321578.1	NM_021974	
DMC1	11144	broad.mit.edu	37	22	38964210	38964210	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:38964210C>T	ENST00000216024.2	-	2	328		c.e2+1		DMC1_ENST00000428462.2_Splice_Site|DMC1_ENST00000464842.1_5'Flank	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1						female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.?(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTAGTCATACCTCTTCATCT	0.353								Homologous recombination																													.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						114.0	111.0	112.0					22																	38964210		2203	4300	6503	37294156	SO:0001630	splice_region_variant	11144	.			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.51+1G>A	22.37:g.38964210C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37294156	.	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Splice_Site	SNP	ENST00000216024.2	37	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621469	0.66787	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3616	0.87351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMC1	37294156	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.270000	0.65547	2.692000	0.91855	0.561000	0.74099	.		0.353	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068	Intron
ENTHD1	150350	broad.mit.edu	37	22	40231838	40231838	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:40231838G>T	ENST00000325157.6	-	4	962					NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1									p.?(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ggaaactaTAGACTTACCTCT	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						194.0	179.0	184.0					22																	40231838		2203	4300	6503	38561784	SO:0001627	intron_variant	150350	.			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.711+6C>A	22.37:g.40231838G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38561784	.	B0QYD5|Q5H9F7|Q96LK3	Intron	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																				0.388	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
SEPT3	55964	broad.mit.edu	37	22	42377841	42377841	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42377841G>A	ENST00000396426.3	+	2	457		c.e2+1		SEPT3_ENST00000328414.8_Splice_Site|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000396425.3_Splice_Site|SEPT3_ENST00000291236.11_Intron	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.?(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATGGTCGTTGGTACGGAAGGC	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						92.0	75.0	81.0					22																	42377841		2203	4300	6503	40707787	SO:0001630	splice_region_variant	55964	.			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.202+1G>A	22.37:g.42377841G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40707787	.	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Splice_Site	SNP	ENST00000396426.3	37	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596547	0.46318	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6688	0.95903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT3	40707787	1.000000	0.71417	0.960000	0.40013	0.110000	0.19582	9.869000	0.99810	2.735000	0.93741	0.557000	0.71058	.		0.557	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734	Intron
TCF20	6942	broad.mit.edu	37	22	42611313	42611313	+	5'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:42611313C>A	ENST00000359486.3	-	0	135				TCF20_ENST00000335626.4_5'UTR	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGACTGCATACTGTTCAGCAG	0.488																																					.												.	.	0			.	22						.						65.0	65.0	65.0					22																	42611313		2203	4300	6503	40941257	SO:0001623	5_prime_UTR_variant	6942	.			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.-2G>T	22.37:g.42611313C>A		Somatic		Capture	Illumina HiSeq	Phase_I	40941257	.	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	5'UTR	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
PACSIN2	11252	broad.mit.edu	37	22	43278311	43278311	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:43278311C>A	ENST00000263246.3	-	7	987		c.e7-1		PACSIN2_ENST00000402229.1_Splice_Site|PACSIN2_ENST00000407585.1_Splice_Site|PACSIN2_ENST00000403744.3_Splice_Site|PACSIN2_ENST00000337959.4_Splice_Site	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2						actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.?(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GGCTTTGTAGCTAAATCAGAG	0.587																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	22						.						75.0	76.0	76.0					22																	43278311		2004	4180	6184	41608255	SO:0001630	splice_region_variant	11252	.			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.786-1G>T	22.37:g.43278311C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41608255	.	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Splice_Site	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645842	0.67358	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6095	0.95599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PACSIN2	41608255	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	7.335000	0.79234	2.720000	0.93068	0.655000	0.94253	.		0.587	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229	Intron
GTSE1	51512	broad.mit.edu	37	22	46708031	46708031	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:46708031T>A	ENST00000454366.1	+	5	974					NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.?(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAAATTAAAATTTTCAGCCCA	0.488																																					.	GBM(153;542 1915 12487 29016 50495)											.	.	1	Unknown(1)	large_intestine(1)	.	22						.						55.0	58.0	57.0					22																	46708031		2203	4300	6503	45086695	SO:0001627	intron_variant	51512	.			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.763-7T>A	22.37:g.46708031T>A		Somatic		Capture	Illumina HiSeq	Phase_I	45086695	.	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Intron	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																				0.488	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
TRMU	55687	broad.mit.edu	37	22	46748174	46748174	+	Missense_Mutation	SNP	G	G	A	rs148994335		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr22:46748174G>A	ENST00000290846.4	+	7	1059	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Missense_Mutation_p.R240Q	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	240					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.R240Q(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CTGCAGCCTCGACCTGGTCAC	0.493																																					p.R240Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719A	22						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	198.0	199.0	199.0		719	3.3	0.9	22	dbSNP_134	199	0,8600		0,0,4300	no	missense	TRMU	NM_018006.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	240/422	46748174	1,13005	2203	4300	6503	45126838	SO:0001583	missense	55687	exon7			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.719G>A	22.37:g.46748174G>A	ENSP00000290846:p.Arg240Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45126838	NM_018006	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	5.502	0.277593	0.10403	2.27E-4	0.0	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.71579	-0.58;-0.58	5.38	3.28	0.37604	Adenine nucleotide alpha hydrolase-like domains (1);	0.227193	0.45867	D	0.000330	T	0.33702	0.0872	N	0.02916	-0.46	0.46185	D	0.99891	B;P;B;B;B	0.35612	0.068;0.512;0.403;0.055;0.017	B;B;B;B;B	0.24006	0.008;0.05;0.043;0.01;0.01	T	0.49476	-0.8936	10	0.02654	T	1	-13.0174	8.9041	0.35512	0.2939:0.0:0.7061:0.0	.	240;86;86;240;240	B4DHM1;O75648-3;O75648-4;O75648-2;O75648	.;.;.;.;MTU1_HUMAN	Q	240	ENSP00000290846:R240Q;ENSP00000370407:R240Q	ENSP00000290846:R240Q	R	+	2	0	TRMU	45126838	0.889000	0.30405	0.950000	0.38849	0.026000	0.11368	1.607000	0.36836	1.275000	0.44379	-0.136000	0.14681	CGA		0.493	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006	
SSB	6741	broad.mit.edu	37	2	170667549	170667550	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170667549_170667550insA	ENST00000409333.1	+	10	1239_1240	c.992_993insA	c.(991-996)tcaaaafs	p.SK331fs	SSB_ENST00000260956.4_Frame_Shift_Ins_p.SK331fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	331					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.G333fs*3(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAATGGAAGTCAAAAGGTCATT	0.337																																					p.S331fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.992_993insA	2						.																																			170375796	SO:0001589	frameshift_variant	6741	exon10				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.996dupA	2.37:g.170667553_170667553dupA	ENSP00000386636:p.Ser331fs	Somatic		Capture	Illumina HiSeq	Phase_I	170375795	NM_003142	Q15367|Q53XJ4	Frame_Shift_Ins	INS	ENST00000409333.1	37	CCDS2237.1																																																																																				0.337	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142	
ADAM23	8745	broad.mit.edu	37	2	207310055	207310055	+	Frame_Shift_Del	DEL	A	A	-	rs547598626		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207310055delA	ENST00000264377.3	+	2	567	c.239delA	c.(238-240)gaafs	p.E80fs	ADAM23_ENST00000374415.3_Frame_Shift_Del_p.E80fs|ADAM23_ENST00000374416.1_Frame_Shift_Del_p.E80fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	80					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N82fs*87(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAAACTGCAGAAAAAAATTTG	0.418																																					p.E80fs	Melanoma(194;1127 2130 19620 24042 27855)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.239delA	2						.						75.0	73.0	74.0					2																	207310055		2203	4300	6503	207018300	SO:0001589	frameshift_variant	8745	exon2			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.239delA	2.37:g.207310055delA	ENSP00000264377:p.Glu80fs	Somatic		Capture	Illumina HiSeq	Phase_I	207018300	NM_003812	A2RU59	Frame_Shift_Del	DEL	ENST00000264377.3	37	CCDS2369.1																																																																																				0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
LONRF2	164832	broad.mit.edu	37	2	100903482	100903482	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:100903482G>T	ENST00000393437.3	-	11	2603	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	LONRF2_ENST00000409647.1_Missense_Mutation_p.S412Y	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	655	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S655Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTGATGCACAGAATCGTGGAG	0.478																																					p.S655Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1964A	2						.						121.0	94.0	103.0					2																	100903482		2203	4300	6503	100269914	SO:0001583	missense	164832	exon11			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1964C>A	2.37:g.100903482G>T	ENSP00000377086:p.Ser655Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100269914	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431666	0.43122	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.49139	0.79;0.79	4.83	3.95	0.45737	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.136419	0.50627	D	0.000101	T	0.63105	0.2483	M	0.76574	2.34	0.53688	D	0.999973	P	0.51933	0.949	P	0.58331	0.837	T	0.66329	-0.5951	10	0.56958	D	0.05	-5.2137	12.9621	0.58464	0.0788:0.0:0.9212:0.0	.	655	Q1L5Z9	LONF2_HUMAN	Y	655;412	ENSP00000377086:S655Y;ENSP00000386823:S412Y	ENSP00000377086:S655Y	S	-	2	0	LONRF2	100269914	1.000000	0.71417	0.034000	0.17996	0.015000	0.08874	7.489000	0.81451	1.031000	0.39867	0.655000	0.94253	TCT		0.478	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
NMS	129521	broad.mit.edu	37	2	101089260	101089260	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:101089260T>G	ENST00000376865.1	+	2	87	c.80T>G	c.(79-81)tTt>tGt	p.F27C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	27					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.F27C(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ACAATAGGATTTCCTCAACCT	0.328																																					p.F27C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T80G	2						.						124.0	114.0	118.0					2																	101089260		2203	4300	6503	100455692	SO:0001583	missense	129521	exon2			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.80T>G	2.37:g.101089260T>G	ENSP00000366061:p.Phe27Cys	Somatic		Capture	Illumina HiSeq	Phase_I	100455692	NM_001011717		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	9.160	1.018521	0.19355	.	.	ENSG00000204640	ENST00000376865	T	0.49432	0.78	4.25	0.592	0.17471	.	1.206990	0.06364	N	0.712308	T	0.45135	0.1327	L	0.58101	1.795	0.09310	N	1	D	0.58620	0.983	B	0.43783	0.431	T	0.38993	-0.9635	10	0.72032	D	0.01	0.0112	5.9193	0.19073	0.0:0.3557:0.0:0.6443	.	27	Q5H8A3	NMS_HUMAN	C	27	ENSP00000366061:F27C	ENSP00000366061:F27C	F	+	2	0	NMS	100455692	0.091000	0.21658	0.025000	0.17156	0.631000	0.37964	0.430000	0.21428	-0.044000	0.13491	0.374000	0.22700	TTT		0.328	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	
NPAS2	4862	broad.mit.edu	37	2	101580599	101580599	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:101580599C>A	ENST00000335681.5	+	8	963	c.678C>A	c.(676-678)ttC>ttA	p.F226L	NPAS2_ENST00000542504.1_Missense_Mutation_p.F291L|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	226					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F226L(1)|p.F226F(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTTTGCTTCATTGCCACCG	0.493																																					p.F226L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	urinary_tract(1)|large_intestine(1)	c.C678A	2						.						131.0	123.0	126.0					2																	101580599		2203	4300	6503	100947031	SO:0001583	missense	4862	exon8			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.678C>A	2.37:g.101580599C>A	ENSP00000338283:p.Phe226Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100947031	NM_002518	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537070	0.45176	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.03689	3.87;3.84	5.47	5.47	0.80525	.	0.081392	0.64402	D	0.000002	T	0.02455	0.0075	N	0.16037	0.36	0.47183	D	0.999349	B;B	0.22909	0.077;0.046	B;B	0.28139	0.086;0.023	T	0.55068	-0.8198	10	0.19147	T	0.46	.	5.6549	0.17637	0.1912:0.6908:0.0:0.1179	.	291;226	F5H027;Q99743	.;NPAS2_HUMAN	L	226;291	ENSP00000338283:F226L;ENSP00000438428:F291L	ENSP00000338283:F226L	F	+	3	2	NPAS2	100947031	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.062000	0.30555	2.566000	0.86566	0.655000	0.94253	TTC		0.493	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		
RPL31	6160	broad.mit.edu	37	2	101622541	101622541	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:101622541C>A	ENST00000264258.3	+	4	947				RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409733.1_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409320.3_Missense_Mutation_p.F118L|RPL31_ENST00000409028.4_Intron	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.?(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AAAGTAAGTTCTCCATCCCAT	0.378																																					p.F118L												.	.	1	Unknown(1)	large_intestine(1)	c.C354A	2						.						47.0	45.0	45.0					2																	101622541		2203	4300	6503	100988973	SO:0001627	intron_variant	6160	exon4			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.346+8C>A	2.37:g.101622541C>A		Somatic		Capture	Illumina HiSeq	Phase_I	100988973	NM_001099693	B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	CCDS2049.1	.	.	.	.	.	.	.	.	.	.	C	2.414	-0.334597	0.05278	.	.	ENSG00000071082	ENST00000409320	.	.	.	2.35	2.35	0.29111	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	6	.	.	.	.	9.2795	0.37720	0.0:0.7777:0.2223:0.0	.	118	Q6IRZ0	.	L	118	.	.	F	+	3	2	RPL31	100988973	0.108000	0.22018	0.522000	0.27862	0.471000	0.32888	-0.062000	0.11674	1.618000	0.50286	0.563000	0.77884	TTC		0.378	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577	
CNOT11	55571	broad.mit.edu	37	2	101874342	101874342	+	Missense_Mutation	SNP	C	C	T	rs201833579		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:101874342C>T	ENST00000289382.3	+	2	767	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	202					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R202C(1)									AAAGACGCCTCGCCAGATTGC	0.493																																					p.R202C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	2						.	C	CYS/ARG	0,4406		0,0,2203	96.0	86.0	89.0		604	6.0	1.0	2		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C2orf29	NM_017546.4	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	202/511	101874342	2,13004	2203	4300	6503	101240774	SO:0001583	missense	55571	exon2			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.604C>T	2.37:g.101874342C>T	ENSP00000289382:p.Arg202Cys	Somatic		Capture	Illumina HiSeq	Phase_I	101240774	NM_017546	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236150	0.58886	0.0	2.33E-4	ENSG00000158435	ENST00000289382	T	0.35605	1.3	6.01	6.01	0.97437	.	0.256370	0.39274	N	0.001418	T	0.53514	0.1801	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.48340	-0.9044	10	0.54805	T	0.06	-14.9544	15.3095	0.74019	0.1398:0.8601:0.0:0.0	.	202	Q9UKZ1	CB029_HUMAN	C	202	ENSP00000289382:R202C	ENSP00000289382:R202C	R	+	1	0	C2orf29	101240774	0.969000	0.33509	0.998000	0.56505	0.970000	0.65996	2.320000	0.43797	2.869000	0.98440	0.558000	0.71614	CGC		0.493	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
IL1R2	7850	broad.mit.edu	37	2	102636134	102636134	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:102636134T>G	ENST00000332549.3	+	5	777	c.548T>G	c.(547-549)tTt>tGt	p.F183C	IL1R2_ENST00000393414.2_Missense_Mutation_p.F183C|IL1R2_ENST00000441002.1_Missense_Mutation_p.F183C	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	183	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.F183C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						AATGAGAAATTTCTAAGTGTG	0.408																																					p.F183C	Pancreas(106;189 1628 2302 5133 12295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T548G	2						.						82.0	77.0	79.0					2																	102636134		2203	4300	6503	102002566	SO:0001583	missense	7850	exon5			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.548T>G	2.37:g.102636134T>G	ENSP00000330959:p.Phe183Cys	Somatic		Capture	Illumina HiSeq	Phase_I	102002566	NM_004633	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522482	0.85600	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.517363	0.21815	N	0.068705	D	0.89262	0.6665	M	0.86740	2.835	0.40805	D	0.983372	D	0.89917	1.0	D	0.85130	0.997	D	0.90836	0.4720	10	0.62326	D	0.03	.	14.0887	0.64975	0.0:0.0:0.0:1.0	.	183	P27930	IL1R2_HUMAN	C	183	ENSP00000330959:F183C;ENSP00000377066:F183C;ENSP00000408415:F183C;ENSP00000414611:F183C	ENSP00000330959:F183C	F	+	2	0	IL1R2	102002566	0.993000	0.37304	0.465000	0.27155	0.451000	0.32288	2.117000	0.41939	2.302000	0.77476	0.533000	0.62120	TTT		0.408	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
IL1RL2	8808	broad.mit.edu	37	2	102855673	102855673	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:102855673G>T	ENST00000264257.2	+	12	1826	c.1700G>T	c.(1699-1701)aGa>aTa	p.R567I	IL1RL2_ENST00000539491.1_Missense_Mutation_p.R567I|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R449I	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	567					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.R567I(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGCTCAAGAAGAAAGAAGTGT	0.468																																					p.R567I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1700T	2						.						143.0	122.0	129.0					2																	102855673		2203	4300	6503	102222105	SO:0001583	missense	8808	exon12			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1700G>T	2.37:g.102855673G>T	ENSP00000264257:p.Arg567Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102222105	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.012012	0.19277	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.04015	4.1;3.73;4.1	2.31	-0.46	0.12175	.	.	.	.	.	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.24155	0.051;0.037	T	0.44003	-0.9356	9	0.56958	D	0.05	.	3.8738	0.09048	0.1655:0.4345:0.4:0.0	.	449;567	A4FU63;Q9HB29	.;ILRL2_HUMAN	I	567;449;567	ENSP00000264257:R567I;ENSP00000413348:R449I;ENSP00000442184:R567I	ENSP00000264257:R567I	R	+	2	0	IL1RL2	102222105	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.220000	0.09215	-0.143000	0.11334	0.563000	0.77884	AGA		0.468	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
IL18R1	8809	broad.mit.edu	37	2	103006577	103006577	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:103006577C>A	ENST00000409599.1	+	10	1367	c.1011C>A	c.(1009-1011)atC>atA	p.I337I	IL18R1_ENST00000233957.1_Silent_p.I337I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	337					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.I337I(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTTTGATCTTGGTGGCAG	0.383																																					p.I337I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011A	2						.						224.0	195.0	205.0					2																	103006577		2203	4300	6503	102373009	SO:0001819	synonymous_variant	8809	exon8			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1011C>A	2.37:g.103006577C>A		Somatic		Capture	Illumina HiSeq	Phase_I	102373009	NM_003855	B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	CCDS2060.1																																																																																				0.383	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
IL18R1	8809	broad.mit.edu	37	2	103011078	103011078	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:103011078C>T	ENST00000409599.1	+	11	1617	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	IL18R1_ENST00000233957.1_Missense_Mutation_p.P421S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	421	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.P421S(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATGTAGTGCCTGGAGGAGG	0.408																																					p.P421S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1261T	2						.						95.0	92.0	93.0					2																	103011078		2203	4300	6503	102377510	SO:0001583	missense	8809	exon9			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1261C>T	2.37:g.103011078C>T	ENSP00000387211:p.Pro421Ser	Somatic		Capture	Illumina HiSeq	Phase_I	102377510	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643358	0.87859	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.09723	2.95;2.95;2.95	5.71	5.71	0.89125	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000003	T	0.45196	0.1330	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.54098	-0.8344	10	0.72032	D	0.01	.	19.8535	0.96748	0.0:1.0:0.0:0.0	.	420;421	B7ZKV7;Q13478	.;IL18R_HUMAN	S	421	ENSP00000386663:P421S;ENSP00000387211:P421S;ENSP00000233957:P421S	ENSP00000233957:P421S	P	+	1	0	IL18R1	102377510	0.997000	0.39634	0.984000	0.44739	0.974000	0.67602	3.637000	0.54324	2.694000	0.91930	0.557000	0.71058	CCT		0.408	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
SLC9A4	389015	broad.mit.edu	37	2	103148958	103148958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:103148958C>A	ENST00000295269.4	+	12	2665	c.2208C>A	c.(2206-2208)taC>taA	p.Y736*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	736					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.Y736*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAGAAGAGTACTTGGGTGGAG	0.488																																					p.Y736X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2208A	2						.						94.0	76.0	82.0					2																	103148958		2203	4300	6503	102515390	SO:0001587	stop_gained	389015	exon12				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2208C>A	2.37:g.103148958C>A	ENSP00000295269:p.Tyr736*	Somatic		Capture	Illumina HiSeq	Phase_I	102515390	NM_001011552	Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	37	5.991217	0.97179	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.11	-10.2	0.00374	.	1.922640	0.02213	N	0.063323	.	.	.	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.674	0.12703	0.2887:0.5018:0.1013:0.1082	.	.	.	.	X	736	.	ENSP00000295269:Y736X	Y	+	3	2	SLC9A4	102515390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.016000	0.01446	-3.534000	0.00145	-0.768000	0.03414	TAC		0.488	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
MFSD9	84804	broad.mit.edu	37	2	103335080	103335080	+	Silent	SNP	G	G	A	rs550305075		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:103335080G>A	ENST00000258436.5	-	6	1267	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	408					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S408S(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TAAGGGTGCCGCTGGCCTGGG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16809	0.0		0.0	False		,,,				2504	0.001				p.S408S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1224T	2						.						25.0	30.0	28.0					2																	103335080		2203	4300	6503	102701512	SO:0001819	synonymous_variant	84804	exon6				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1224C>T	2.37:g.103335080G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102701512	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																				0.667	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
TGFBRAP1	9392	broad.mit.edu	37	2	105883853	105883853	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:105883853C>T	ENST00000393359.2	-	12	2996	c.2570G>A	c.(2569-2571)gGc>gAc	p.G857D	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G857D|AC012360.2_ENST00000595531.1_5'Flank			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	857					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.G857D(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGTCCGAGTGCCAGGACTGGA	0.547																																					p.G857D	Esophageal Squamous(183;794 2019 9730 21801 48859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2570A	2						.						102.0	88.0	93.0					2																	105883853		2203	4300	6503	105250285	SO:0001583	missense	9392	exon12			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2570G>A	2.37:g.105883853C>T	ENSP00000377027:p.Gly857Asp	Somatic		Capture	Illumina HiSeq	Phase_I	105250285	NM_004257	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018074	0.54576	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.53857	0.6;0.6	5.5	5.5	0.81552	.	0.369544	0.27275	N	0.020115	T	0.42086	0.1187	L	0.36672	1.1	0.37076	D	0.898764	P;P	0.39282	0.657;0.666	B;B	0.37650	0.255;0.186	T	0.51965	-0.8638	10	0.51188	T	0.08	-36.4501	9.9702	0.41749	0.0:0.8499:0.0:0.1501	.	312;857	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	D	857;857;312	ENSP00000377027:G857D;ENSP00000258449:G857D	ENSP00000258449:G857D	G	-	2	0	TGFBRAP1	105250285	0.998000	0.40836	0.718000	0.30602	0.848000	0.48234	2.951000	0.49089	2.590000	0.87494	0.557000	0.71058	GGC		0.547	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
C2orf49	79074	broad.mit.edu	37	2	105961823	105961823	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:105961823C>A	ENST00000258457.2	+	4	923	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	C2orf49_ENST00000437250.2_Missense_Mutation_p.P228T|C2orf49_ENST00000410049.1_Missense_Mutation_p.P190T			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	232					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)		p.P232T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						TGTTACTTGGCCCTGAAGAAA	0.308																																					p.P232T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C694A	2						.						84.0	84.0	84.0					2																	105961823		2203	4299	6502	105328255	SO:0001583	missense	79074	exon4			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.694C>A	2.37:g.105961823C>A	ENSP00000258457:p.Pro232Thr	Somatic		Capture	Illumina HiSeq	Phase_I	105328255	NM_024093	B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377033	0.82682	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.68181	-0.31;-0.31;-0.31	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81075	-0.1097	10	0.87932	D	0	.	18.7095	0.91651	0.0:1.0:0.0:0.0	.	228;232	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	T	232;228;190	ENSP00000258457:P232T;ENSP00000400208:P228T;ENSP00000386361:P190T	ENSP00000258457:P232T	P	+	1	0	C2orf49	105328255	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.827000	0.62723	2.764000	0.94973	0.650000	0.86243	CCC		0.308	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093	
FHL2	2274	broad.mit.edu	37	2	105979817	105979817	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:105979817C>A	ENST00000409807.1	-	5	947	c.613G>T	c.(613-615)Gac>Tac	p.D205Y	FHL2_ENST00000409177.1_Missense_Mutation_p.D321Y|FHL2_ENST00000393353.3_Missense_Mutation_p.D205Y|FHL2_ENST00000344213.4_Missense_Mutation_p.D315Y|FHL2_ENST00000322142.8_Missense_Mutation_p.D205Y|FHL2_ENST00000408995.1_Missense_Mutation_p.D205Y|FHL2_ENST00000393352.3_Missense_Mutation_p.D205Y|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000358129.4_Missense_Mutation_p.D205Y|FHL2_ENST00000336660.5_Missense_Mutation_p.M146I			Q14192	FHL2_HUMAN	four and a half LIM domains 2	205	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D205Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TAGGCAAAGTCATCGCGAGCT	0.602																																					p.D205Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613T	2						.						69.0	56.0	60.0					2																	105979817		2203	4300	6503	105346249	SO:0001583	missense	2274	exon6				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.613G>T	2.37:g.105979817C>A	ENSP00000386665:p.Asp205Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	105346249	NM_001039492	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	CCDS2070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.49|18.49	3.634825|3.634825	0.67130|0.67130	.|.	.|.	ENSG00000115641|ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995|ENST00000336660	D;D;D;D;D;D;D;D|T	0.88431|0.18174	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38|2.23	5.41|5.41	5.41|5.41	0.78517|0.78517	Zinc finger, LIM-type (4);|.	0.254962|.	0.44688|.	D|.	0.000438|.	T|T	0.55955|0.55955	0.1953|0.1953	H|H	0.94847|0.94847	3.59|3.59	0.31914|0.31914	N|N	0.6143|0.6143	P;P;D;P|.	0.63880|.	0.824;0.733;0.993;0.824|.	P;P;D;P|.	0.65323|.	0.908;0.828;0.934;0.908|.	T|T	0.70905|0.70905	-0.4745|-0.4745	10|7	0.87932|0.72032	D|D	0|0.01	.|.	19.5983|19.5983	0.95549|0.95549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	205;205;315;205|.	Q6I9R8;Q2I5I4;Q2XQU9;Q14192|.	.;.;.;FHL2_HUMAN|.	Y|I	205;315;205;205;205;205;205;205|146	ENSP00000386892:D205Y;ENSP00000344266:D315Y;ENSP00000377021:D205Y;ENSP00000377020:D205Y;ENSP00000322909:D205Y;ENSP00000350846:D205Y;ENSP00000386665:D205Y;ENSP00000386633:D205Y|ENSP00000338270:M146I	ENSP00000322909:D205Y|ENSP00000338270:M146I	D|M	-|-	1|3	0|0	FHL2|FHL2	105346249|105346249	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.326000|0.326000	0.28443|0.28443	4.914000|4.914000	0.63348|0.63348	2.687000|2.687000	0.91594|0.91594	0.645000|0.645000	0.84053|0.84053	GAC|ATG		0.602	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1		
ST6GAL2	84620	broad.mit.edu	37	2	107459984	107459984	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:107459984G>T	ENST00000409382.3	-	2	1060	c.450C>A	c.(448-450)ttC>ttA	p.F150L	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F150L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F150L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	150					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.F150L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGGGGAAGGGAATCCCAATG	0.612																																					p.F150L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C450A	2						.						85.0	102.0	97.0					2																	107459984		2203	4300	6503	106826416	SO:0001583	missense	84620	exon2			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.450C>A	2.37:g.107459984G>T	ENSP00000386942:p.Phe150Leu	Somatic		Capture	Illumina HiSeq	Phase_I	106826416	NM_001142352	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838815	0.16891	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.26957	2.7;2.7;1.7	5.13	0.515	0.17013	.	1.597920	0.02893	N	0.134428	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20306	-1.0279	10	0.05959	T	0.93	0.0184	10.8037	0.46504	0.0745:0.4449:0.4806:0.0	.	150;150	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	150	ENSP00000355273:F150L;ENSP00000386942:F150L;ENSP00000387332:F150L	ENSP00000355273:F150L	F	-	3	2	ST6GAL2	106826416	0.026000	0.19158	0.000000	0.03702	0.483000	0.33249	1.258000	0.32944	0.426000	0.26116	0.561000	0.74099	TTC		0.612	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
SLC5A7	60482	broad.mit.edu	37	2	108626825	108626825	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:108626825C>A	ENST00000264047.2	+	9	1527	c.1251C>A	c.(1249-1251)atC>atA	p.I417I	SLC5A7_ENST00000409059.1_Silent_p.I417I|SLC5A7_ENST00000540517.1_Silent_p.I312I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	417					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.I417I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACATCGTTATCTTCCCCCAGC	0.498																																					p.I417I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251A	2						.						281.0	225.0	244.0					2																	108626825		2203	4300	6503	107993257	SO:0001819	synonymous_variant	60482	exon9			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1251C>A	2.37:g.108626825C>A		Somatic		Capture	Illumina HiSeq	Phase_I	107993257	NM_021815	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																				0.498	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
GCC2	9648	broad.mit.edu	37	2	109087376	109087376	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:109087376G>T	ENST00000309863.6	+	6	2305	c.1591G>T	c.(1591-1593)Gat>Tat	p.D531Y		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	531					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.D531Y(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						tactgaaaaagatgcccttct	0.393																																					p.D531Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1591T	2						.						66.0	69.0	68.0					2																	109087376		2202	4299	6501	108453808	SO:0001583	missense	9648	exon6			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1591G>T	2.37:g.109087376G>T	ENSP00000307939:p.Asp531Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	108453808	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195257	0.58017	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.58506	0.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.67953	2.075	0.50039	D	0.999849	D	0.89917	1.0	D	0.76575	0.988	T	0.74697	-0.3578	10	0.72032	D	0.01	.	12.8396	0.57793	0.075:0.0:0.925:0.0	.	531	Q8IWJ2	GCC2_HUMAN	Y	531;494;276	ENSP00000307939:D531Y	ENSP00000307939:D531Y	D	+	1	0	GCC2	108453808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.209000	0.58493	2.684000	0.91462	0.650000	0.86243	GAT		0.393	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
GCC2	9648	broad.mit.edu	37	2	109088004	109088004	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:109088004A>T	ENST00000309863.6	+	6	2933	c.2219A>T	c.(2218-2220)aAt>aTt	p.N740I		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	740					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.N740I(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGCAAGATAATTTAAATAAA	0.294																																					p.N740I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2219T	2						.						72.0	89.0	83.0					2																	109088004		2197	4294	6491	108454436	SO:0001583	missense	9648	exon6			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2219A>T	2.37:g.109088004A>T	ENSP00000307939:p.Asn740Ile	Somatic		Capture	Illumina HiSeq	Phase_I	108454436	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320627	0.23994	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.32515	1.45	5.5	1.52	0.23074	.	0.775582	0.12251	N	0.485582	T	0.22898	0.0553	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.29267	0.1	T	0.07139	-1.0788	10	0.42905	T	0.14	.	9.1272	0.36824	0.773:0.0:0.227:0.0	.	740	Q8IWJ2	GCC2_HUMAN	I	740;703;484	ENSP00000307939:N740I	ENSP00000307939:N740I	N	+	2	0	GCC2	108454436	0.003000	0.15002	0.872000	0.34217	0.861000	0.49209	0.733000	0.26087	0.381000	0.24851	0.528000	0.53228	AAT		0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
SH3RF3	344558	broad.mit.edu	37	2	109964319	109964319	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:109964319C>T	ENST00000309415.6	+	2	763	c.763C>T	c.(763-765)Cca>Tca	p.P255S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	255							zinc ion binding (GO:0008270)	p.P255S(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCAGCCCTTGCCACACGCCCC	0.582																																					p.P255S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763T	2						.						41.0	47.0	45.0					2																	109964319		2100	4222	6322	109330751	SO:0001583	missense	344558	exon2			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.763C>T	2.37:g.109964319C>T	ENSP00000309186:p.Pro255Ser	Somatic		Capture	Illumina HiSeq	Phase_I	109330751	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	C	9.766	1.171334	0.21621	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.30182	1.54;1.54	5.06	4.18	0.49190	Src homology-3 domain (1);	.	.	.	.	T	0.25791	0.0628	.	.	.	0.36109	D	0.844693	B	0.31581	0.329	B	0.32090	0.14	T	0.26849	-1.0091	8	0.54805	T	0.06	.	8.4445	0.32834	0.1528:0.769:0.0:0.0782	.	255	Q8TEJ3	SH3R3_HUMAN	S	255	ENSP00000414997:P255S;ENSP00000309186:P255S	ENSP00000309186:P255S	P	+	1	0	SH3RF3	109330751	0.962000	0.33011	0.941000	0.38009	0.171000	0.22731	1.075000	0.30716	1.109000	0.41680	0.555000	0.69702	CCA		0.582	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
MALL	7851	broad.mit.edu	37	2	110845159	110845159	+	Missense_Mutation	SNP	G	G	A	rs146638032		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:110845159G>A	ENST00000272462.2	-	3	1162	c.389C>T	c.(388-390)tCg>tTg	p.S130L	MALL_ENST00000427178.1_Intron|MIR4436B1_ENST00000583272.1_RNA	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	130	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.S130L(2)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGCTGCCGAATTAATGTA	0.532																																					p.S130L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C389T	2						.																																			110202448	SO:0001583	missense	7851	exon3			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.389C>T	2.37:g.110845159G>A	ENSP00000272462:p.Ser130Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110202448	NM_005434	B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418894	0.25552	.	.	ENSG00000144063	ENST00000272462	T	0.24151	1.87	3.6	1.49	0.22878	Marvel (1);MARVEL-like domain (1);	1.514980	0.04406	N	0.365219	T	0.11965	0.0291	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.22347	-1.0219	10	0.40728	T	0.16	-0.649	4.0034	0.09590	0.15:0.2488:0.6012:0.0	.	130	Q13021	MALL_HUMAN	L	130	ENSP00000272462:S130L	ENSP00000272462:S130L	S	-	2	0	MALL	110202448	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.349000	0.20055	0.601000	0.29879	0.305000	0.20034	TCG		0.532	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434	
NPHP1	4867	broad.mit.edu	37	2	110927435	110927435	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:110927435T>C	ENST00000393272.3	-	5	567	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	NPHP1_ENST00000445609.2_Missense_Mutation_p.Y157C|NPHP1_ENST00000355301.4_Missense_Mutation_p.Y95C|NPHP1_ENST00000417665.1_Missense_Mutation_p.Y157C|NPHP1_ENST00000316534.4_Missense_Mutation_p.Y157C	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	157	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.Y157C(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AACAGCGATGTATTCTTCACC	0.433																																					p.Y157C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A470G	2						.						192.0	167.0	175.0					2																	110927435		2203	4300	6503	110284724	SO:0001583	missense	4867	exon5			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.470A>G	2.37:g.110927435T>C	ENSP00000376953:p.Tyr157Cys	Somatic		Capture	Illumina HiSeq	Phase_I	110284724	NM_001128178	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	3.224	-0.158805	0.06544	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.34	2.89	0.33648	Src homology-3 domain (3);	0.252855	0.40385	N	0.001106	T	0.50086	0.1595	N	0.26130	0.795	0.35853	D	0.826905	B;B;B;B;B;B	0.14805	0.011;0.0;0.001;0.002;0.007;0.003	B;B;B;B;B;B	0.15870	0.006;0.004;0.004;0.004;0.014;0.005	T	0.49214	-0.8963	10	0.49607	T	0.09	-0.7203	8.3566	0.32333	0.0:0.167:0.0:0.833	.	157;157;95;157;157;157	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	C	157;157;157;95;157	ENSP00000313169:Y157C;ENSP00000389879:Y157C;ENSP00000376953:Y157C;ENSP00000347452:Y95C;ENSP00000402176:Y157C	ENSP00000313169:Y157C	Y	-	2	0	NPHP1	110284724	0.875000	0.30112	0.004000	0.12327	0.007000	0.05969	0.347000	0.20014	0.322000	0.23283	0.397000	0.26171	TAC		0.433	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
BUB1	699	broad.mit.edu	37	2	111414655	111414655	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:111414655G>T	ENST00000302759.6	-	15	1774	c.1656C>A	c.(1654-1656)acC>acA	p.T552T	BUB1_ENST00000535254.1_Silent_p.T532T|BUB1_ENST00000409311.1_Silent_p.T552T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	552					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T552T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTCTCCAAAGGTCCTGGCTC	0.373																																					p.T552T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1656A	2						.						112.0	113.0	113.0					2																	111414655		2203	4300	6503	111131128	SO:0001819	synonymous_variant	699	exon15			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1656C>A	2.37:g.111414655G>T		Somatic		Capture	Illumina HiSeq	Phase_I	111131128	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	CCDS33273.1																																																																																				0.373	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
BUB1	699	broad.mit.edu	37	2	111419244	111419244	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:111419244T>C	ENST00000302759.6	-	10	1250	c.1132A>G	c.(1132-1134)Acc>Gcc	p.T378A	BUB1_ENST00000535254.1_Missense_Mutation_p.T358A|BUB1_ENST00000409311.1_Missense_Mutation_p.T378A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	378					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T378A(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTCTGGCTGGTGGCTGGGGAC	0.512																																					p.T378A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1132G	2						.						115.0	110.0	112.0					2																	111419244		2203	4300	6503	111135717	SO:0001583	missense	699	exon10			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1132A>G	2.37:g.111419244T>C	ENSP00000302530:p.Thr378Ala	Somatic		Capture	Illumina HiSeq	Phase_I	111135717	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	T	2.636	-0.285166	0.05605	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.29655	2.29;1.56;2.56	4.98	-9.84	0.00479	.	2.374640	0.01019	N	0.003946	T	0.09686	0.0238	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.20009	-1.0288	10	0.07175	T	0.84	1.3792	9.182	0.37148	0.1913:0.1428:0.0:0.6659	.	358;378;378	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	A	358;378;378;378	ENSP00000441013:T358A;ENSP00000386701:T378A;ENSP00000302530:T378A	ENSP00000302530:T378A	T	-	1	0	BUB1	111135717	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.312000	0.01127	-2.092000	0.00857	-0.388000	0.06559	ACC		0.512	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
BCL2L11	10018	broad.mit.edu	37	2	111881594	111881594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:111881594G>A	ENST00000393256.3	+	2	545	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	BCL2L11_ENST00000357757.2_Missense_Mutation_p.R91Q|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000405953.1_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	91					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)		p.R91Q(2)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CTGCTGTCTCGATCCTCCAGT	0.567																																					p.R91Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G272A	2						.						85.0	91.0	89.0					2																	111881594		2203	4300	6503	111598065	SO:0001583	missense	10018	exon2			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.272G>A	2.37:g.111881594G>A	ENSP00000376943:p.Arg91Gln	Somatic		Capture	Illumina HiSeq	Phase_I	111598065	NM_138621	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418394	0.83559	.	.	ENSG00000153094	ENST00000432179;ENST00000357757;ENST00000393256	T;T;T	0.43688	0.94;0.94;0.94	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000079	T	0.37237	0.0996	N	0.24115	0.695	0.80722	D	1	D;D	0.61697	0.976;0.99	P;P	0.50049	0.592;0.629	T	0.19224	-1.0312	10	0.72032	D	0.01	-9.7219	10.6716	0.45762	0.0873:0.0:0.9127:0.0	.	91;91	O43521-11;O43521	.;B2L11_HUMAN	Q	91	ENSP00000411870:R91Q;ENSP00000350398:R91Q;ENSP00000376943:R91Q	ENSP00000350398:R91Q	R	+	2	0	BCL2L11	111598065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.250000	0.51445	2.755000	0.94549	0.655000	0.94253	CGA		0.567	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3		
ANAPC1	64682	broad.mit.edu	37	2	112592219	112592219	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:112592219T>G	ENST00000341068.3	-	19	3118	c.2346A>C	c.(2344-2346)ggA>ggC	p.G782G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	782					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.G782G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGAACAAATTCCTTCTCCCA	0.378																																					p.G782G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2346C	2						.						72.0	69.0	70.0					2																	112592219		2203	4300	6503	112308690	SO:0001819	synonymous_variant	64682	exon19			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2346A>C	2.37:g.112592219T>G		Somatic		Capture	Illumina HiSeq	Phase_I	112308690	NM_022662	Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	9.578	1.122748	0.20877	.	.	ENSG00000153107	ENST00000427997	.	.	.	5.31	1.31	0.21738	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.38308	-0.9667	4	.	.	.	-8.4073	5.2138	0.15332	0.0:0.2201:0.1399:0.64	.	.	.	.	H	317	.	.	N	-	1	0	ANAPC1	112308690	0.829000	0.29322	0.944000	0.38274	0.998000	0.95712	-0.147000	0.10234	0.325000	0.23359	0.456000	0.33151	AAT		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
TMEM87B	84910	broad.mit.edu	37	2	112856196	112856196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:112856196G>A	ENST00000283206.4	+	14	1666	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	433						integral component of membrane (GO:0016021)		p.D433N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTGGGTTGACGATGCATTTTG	0.363																																					p.D433N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1297A	2						.						302.0	278.0	286.0					2																	112856196		2203	4300	6503	112572667	SO:0001583	missense	84910	exon14			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1297G>A	2.37:g.112856196G>A	ENSP00000283206:p.Asp433Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112572667	NM_032824	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617617	0.96649	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.66	5.66	0.87406	.	0.232099	0.50627	D	0.000120	T	0.77811	0.4186	M	0.75777	2.31	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.79631	-0.1723	9	0.66056	D	0.02	-3.7227	17.2556	0.87055	0.0:0.0:1.0:0.0	.	433	Q96K49	TM87B_HUMAN	N	433	.	ENSP00000283206:D433N	D	+	1	0	TMEM87B	112572667	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.852000	0.92215	2.671000	0.90904	0.655000	0.94253	GAT		0.363	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
ZC3H6	376940	broad.mit.edu	37	2	113080289	113080289	+	Missense_Mutation	SNP	C	C	T	rs367887186		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:113080289C>T	ENST00000409871.1	+	9	1551	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R384C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	384							metal ion binding (GO:0046872)	p.R384C(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACTTAGAAAGCGTGGCATAAC	0.413																																					p.R384C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1150T	2						.	C	CYS/ARG	0,3634		0,0,1817	109.0	108.0	108.0		1150	4.0	0.2	2		108	1,8139		0,1,4069	no	missense	ZC3H6	NM_198581.2	180	0,1,5886	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	384/1190	113080289	1,11773	1817	4070	5887	112796760	SO:0001583	missense	376940	exon9			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1150C>T	2.37:g.113080289C>T	ENSP00000386764:p.Arg384Cys	Somatic		Capture	Illumina HiSeq	Phase_I	112796760	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949239	0.53186	0.0	1.23E-4	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.39229	1.09;1.09	5.73	3.95	0.45737	.	0.350142	0.33309	N	0.005057	T	0.37517	0.1006	L	0.51422	1.61	0.49582	D	0.999809	B	0.22541	0.071	B	0.12156	0.007	T	0.22906	-1.0203	10	0.87932	D	0	-1.7846	12.0306	0.53396	0.0:0.8615:0.0:0.1385	.	384	P61129	ZC3H6_HUMAN	C	384;384;361	ENSP00000386764:R384C;ENSP00000340298:R384C	ENSP00000340298:R384C	R	+	1	0	ZC3H6	112796760	1.000000	0.71417	0.164000	0.22755	0.995000	0.86356	4.520000	0.60524	0.785000	0.33685	0.561000	0.74099	CGT		0.413	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
SLC20A1	6574	broad.mit.edu	37	2	113417141	113417141	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:113417141C>T	ENST00000272542.3	+	8	1948	c.1409C>T	c.(1408-1410)gCt>gTt	p.A470V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	470					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.A470V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TACTGCAATGCTGTGTCTGAC	0.468																																					p.A470V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1409T	2						.						167.0	156.0	160.0					2																	113417141		2203	4300	6503	113133612	SO:0001583	missense	6574	exon8				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1409C>T	2.37:g.113417141C>T	ENSP00000272542:p.Ala470Val	Somatic		Capture	Illumina HiSeq	Phase_I	113133612	NM_005415	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074684	0.94000	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.92911	-3.13	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.66506	2.035	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73380	0.98;0.98	D	0.94977	0.8122	10	0.49607	T	0.09	-20.4392	15.8239	0.78683	0.0:1.0:0.0:0.0	.	470;470	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	V	470;282	ENSP00000272542:A470V	ENSP00000272542:A470V	A	+	2	0	SLC20A1	113133612	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	7.787000	0.85759	2.350000	0.79820	0.655000	0.94253	GCT		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415	
ACTR3	10096	broad.mit.edu	37	2	114699919	114699919	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:114699919A>C	ENST00000263238.2	+	8	1161	c.841A>C	c.(841-843)Atc>Ctc	p.I281L	ACTR3_ENST00000536059.1_Missense_Mutation_p.I219L|ACTR3_ENST00000535589.2_Missense_Mutation_p.I230L	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	281					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.I281L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGGACCTGAAATCTTTTTTCA	0.303																																					p.I281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A841C	2						.						85.0	87.0	86.0					2																	114699919		2203	4297	6500	114416389	SO:0001583	missense	10096	exon8			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.841A>C	2.37:g.114699919A>C	ENSP00000263238:p.Ile281Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114416389	NM_005721	P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946944	0.73672	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.94497	-3.44;-3.44;-3.44	5.02	5.02	0.67125	.	0.101145	0.64402	D	0.000003	D	0.96166	0.8750	L	0.52823	1.66	0.80722	D	1	P;D	0.65815	0.946;0.995	D;D	0.91635	0.999;0.998	D	0.96357	0.9263	10	0.56958	D	0.05	-34.3788	14.8952	0.70639	1.0:0.0:0.0:0.0	.	219;281	F5H3P5;P61158	.;ARP3_HUMAN	L	281;219;152;230	ENSP00000263238:I281L;ENSP00000445257:I219L;ENSP00000444987:I230L	ENSP00000263238:I281L	I	+	1	0	ACTR3	114416389	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.139000	0.94554	2.106000	0.64143	0.260000	0.18958	ATC		0.303	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721	
GREB1	9687	broad.mit.edu	37	2	11696778	11696778	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:11696778G>A	ENST00000381486.2	+	2	338	c.38G>A	c.(37-39)cGc>cAc	p.R13H	GREB1_ENST00000234142.5_Missense_Mutation_p.R13H|GREB1_ENST00000381483.2_Missense_Mutation_p.R13H|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000263834.5_Missense_Mutation_p.R13H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	13						integral component of membrane (GO:0016021)		p.R13H(3)		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)		AAGACGACACGCTTTGAAGAG	0.517																																					p.R13H	Ovarian(39;850 945 2785 23371 33093)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G38A	2						.						113.0	104.0	107.0					2																	11696778		2203	4300	6503	11614229	SO:0001583	missense	9687	exon2				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.38G>A	2.37:g.11696778G>A	ENSP00000370896:p.Arg13His	Somatic		Capture	Illumina HiSeq	Phase_I	11614229	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892642	0.91889	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.27557	2.66;1.66;1.69;2.66	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.56673	0.2001	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.62300	-0.6883	10	0.87932	D	0	-17.7313	18.0012	0.89198	0.0:0.0:1.0:0.0	.	13;13;13	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	H	13	ENSP00000370896:R13H;ENSP00000263834:R13H;ENSP00000370892:R13H;ENSP00000234142:R13H	ENSP00000234142:R13H	R	+	2	0	GREB1	11614229	1.000000	0.71417	0.698000	0.30274	0.933000	0.57130	9.254000	0.95512	2.329000	0.79093	0.655000	0.94253	CGC		0.517	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
DPP10	57628	broad.mit.edu	37	2	116257177	116257177	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:116257177T>G	ENST00000410059.1	+	4	843	c.363T>G	c.(361-363)acT>acG	p.T121T	DPP10_ENST00000393147.2_Silent_p.T125T|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.T114T|DPP10_ENST00000409163.1_Silent_p.T71T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	121						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T121T(1)|p.T114T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAACACAACTTTTGTAAGTA	0.308																																					p.T121T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T363G	2						.						92.0	91.0	91.0					2																	116257177		2203	4298	6501	115973647	SO:0001819	synonymous_variant	57628	exon4			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.363T>G	2.37:g.116257177T>G		Somatic		Capture	Illumina HiSeq	Phase_I	115973647	NM_020868	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.308	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
DPP10	57628	broad.mit.edu	37	2	116548679	116548679	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:116548679T>A	ENST00000410059.1	+	18	2034	c.1554T>A	c.(1552-1554)aaT>aaA	p.N518K	DPP10_ENST00000393147.2_Missense_Mutation_p.N522K|DPP10_ENST00000310323.8_Missense_Mutation_p.N511K|DPP10_ENST00000409163.1_Missense_Mutation_p.N468K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	518						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.N511K(1)|p.N518K(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGAAAGCAATTCTATGCTGA	0.323																																					p.N518K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1554A	2						.						60.0	63.0	62.0					2																	116548679		2202	4297	6499	116265149	SO:0001583	missense	57628	exon18			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1554T>A	2.37:g.116548679T>A	ENSP00000386565:p.Asn518Lys	Somatic		Capture	Illumina HiSeq	Phase_I	116265149	NM_020868	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563956	0.65651	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.54	4.39	0.52855	.	0.202145	0.51477	D	0.000093	T	0.59307	0.2184	M	0.82517	2.595	0.40844	D	0.983692	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.927;0.998;0.996	T	0.63712	-0.6575	10	0.87932	D	0	-29.0762	8.2682	0.31827	0.0:0.1578:0.0:0.8422	.	511;522;514;518	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	518;468;522;511;468	ENSP00000386565:N518K;ENSP00000387038:N468K;ENSP00000376855:N522K;ENSP00000309066:N511K	ENSP00000309066:N511K	N	+	3	2	DPP10	116265149	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	0.337000	0.19841	1.119000	0.41883	0.528000	0.53228	AAT		0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
DPP10	57628	broad.mit.edu	37	2	116573277	116573277	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:116573277A>G	ENST00000410059.1	+	21	2402	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	DPP10_ENST00000393147.2_Missense_Mutation_p.D645G|DPP10_ENST00000310323.8_Missense_Mutation_p.D634G|DPP10_ENST00000409163.1_Missense_Mutation_p.D591G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	641						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.D634G(1)|p.D641G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTACATTGACTCCAAAAGA	0.289																																					p.D641G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1922G	2						.						95.0	91.0	93.0					2																	116573277		2202	4298	6500	116289747	SO:0001583	missense	57628	exon21			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1922A>G	2.37:g.116573277A>G	ENSP00000386565:p.Asp641Gly	Somatic		Capture	Illumina HiSeq	Phase_I	116289747	NM_020868	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227300	0.58668	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.81	4.81	0.61882	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	H	0.97940	4.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.91025	0.4860	10	0.87932	D	0	-16.5249	13.6959	0.62580	1.0:0.0:0.0:0.0	.	634;645;637;641	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	641;591;645;634;591	ENSP00000386565:D641G;ENSP00000387038:D591G;ENSP00000376855:D645G;ENSP00000309066:D634G	ENSP00000309066:D634G	D	+	2	0	DPP10	116289747	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.973000	0.88032	2.018000	0.59344	0.383000	0.25322	GAC		0.289	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
GREB1	9687	broad.mit.edu	37	2	11716531	11716531	+	Silent	SNP	G	G	A	rs140123569		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:11716531G>A	ENST00000381486.2	+	5	807	c.507G>A	c.(505-507)acG>acA	p.T169T	GREB1_ENST00000234142.5_Silent_p.T169T|GREB1_ENST00000381483.2_Silent_p.T169T|GREB1_ENST00000389825.3_Silent_p.T59T|GREB1_ENST00000263834.5_Silent_p.T169T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	169						integral component of membrane (GO:0016021)		p.T169T(3)		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)		GTTACTTCACGGAATTCTCCA	0.393																																					p.T169T	Ovarian(39;850 945 2785 23371 33093)											.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G507A	2						.	A	,,	1,4405	2.1+/-5.4	0,1,2202	133.0	139.0	137.0		507,507,507	-9.8	0.0	2	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GREB1	NM_014668.3,NM_033090.2,NM_148903.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	169/1950,169/458,169/410	11716531	1,13005	2203	4300	6503	11633982	SO:0001819	synonymous_variant	9687	exon5				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.507G>A	2.37:g.11716531G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11633982	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.393	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11761108	11761108	+	Silent	SNP	C	C	A	rs549488919		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:11761108C>A	ENST00000381486.2	+	23	4422	c.4122C>A	c.(4120-4122)gtC>gtA	p.V1374V	GREB1_ENST00000396123.1_Silent_p.V372V|GREB1_ENST00000234142.5_Silent_p.V1374V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1374						integral component of membrane (GO:0016021)		p.V1374V(1)		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)		AAGTGGATGTCTATGACGAGG	0.443																																					p.V1374V	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4122A	2						.						197.0	202.0	201.0					2																	11761108		1987	4158	6145	11678559	SO:0001819	synonymous_variant	9687	exon23				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.4122C>A	2.37:g.11761108C>A		Somatic		Capture	Illumina HiSeq	Phase_I	11678559	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.443	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11773065	11773065	+	Missense_Mutation	SNP	G	G	A	rs368641146		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:11773065G>A	ENST00000381486.2	+	28	5167	c.4867G>A	c.(4867-4869)Gag>Aag	p.E1623K	GREB1_ENST00000396123.1_Missense_Mutation_p.E621K|GREB1_ENST00000234142.5_Missense_Mutation_p.E1623K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1623						integral component of membrane (GO:0016021)		p.E1623K(1)		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)		CCTGGAGCTCGAGCGGAACCG	0.567																																					p.E1623K	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4867A	2						.						60.0	67.0	65.0					2																	11773065		2087	4212	6299	11690516	SO:0001583	missense	9687	exon28				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.4867G>A	2.37:g.11773065G>A	ENSP00000370896:p.Glu1623Lys	Somatic		Capture	Illumina HiSeq	Phase_I	11690516	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124106	0.94429	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.50277	0.75;0.75;0.75	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.73217	2.22	0.80722	D	1	D	0.61080	0.989	P	0.48795	0.59	T	0.65294	-0.6203	10	0.72032	D	0.01	-33.9476	19.1501	0.93485	0.0:0.0:1.0:0.0	.	1623	Q4ZG55	GREB1_HUMAN	K	1623;1623;621	ENSP00000370896:E1623K;ENSP00000234142:E1623K;ENSP00000379429:E621K	ENSP00000234142:E1623K	E	+	1	0	GREB1	11690516	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.254000	0.95512	2.517000	0.84864	0.557000	0.71058	GAG		0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
DPP10	57628	broad.mit.edu	37	2	116598367	116598367	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:116598367C>A	ENST00000410059.1	+	25	2704	c.2224C>A	c.(2224-2226)Cta>Ata	p.L742I	DPP10_ENST00000393147.2_Missense_Mutation_p.L746I|DPP10_ENST00000310323.8_Missense_Mutation_p.L735I|DPP10_ENST00000409163.1_Missense_Mutation_p.L692I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	742						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L735I(1)|p.L742I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATCAAGCACCTAATAAAAGC	0.358																																					p.L742I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2224A	2						.						99.0	98.0	98.0					2																	116598367		2203	4300	6503	116314837	SO:0001583	missense	57628	exon25			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2224C>A	2.37:g.116598367C>A	ENSP00000386565:p.Leu742Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116314837	NM_020868	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217060	0.79352	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.99	4.94	0.65067	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.148462	0.45361	D	0.000380	T	0.82121	0.4968	M	0.94142	3.5	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.86487	0.1795	10	0.87932	D	0	-10.9879	15.2078	0.73192	0.0:0.9219:0.0:0.0781	.	735;746;738;742	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	742;692;746;735	ENSP00000386565:L742I;ENSP00000387038:L692I;ENSP00000376855:L746I;ENSP00000309066:L735I	ENSP00000309066:L735I	L	+	1	2	DPP10	116314837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.925000	0.40074	2.840000	0.97914	0.655000	0.94253	CTA		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
LPIN1	23175	broad.mit.edu	37	2	11944576	11944576	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:11944576A>G	ENST00000256720.2	+	15	2026	c.1933A>G	c.(1933-1935)Aac>Gac	p.N645D	LPIN1_ENST00000396099.1_Missense_Mutation_p.N687D|LPIN1_ENST00000404113.2_Missense_Mutation_p.N146D|LPIN1_ENST00000449576.2_Missense_Mutation_p.N730D|LPIN1_ENST00000396097.1_Missense_Mutation_p.N375D|LPIN1_ENST00000425416.2_Missense_Mutation_p.N651D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	645	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.N645D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAATGGCCCCAACGACGTGGT	0.468																																					p.N645D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1933G	2						.						97.0	89.0	92.0					2																	11944576		2203	4300	6503	11862027	SO:0001583	missense	23175	exon15			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1933A>G	2.37:g.11944576A>G	ENSP00000256720:p.Asn645Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11862027	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823740	0.90873	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	D;D;D;D;D;T;D	0.94828	-3.53;-3.44;-3.3;-3.28;-3.05;-0.27;-1.91	4.75	4.75	0.60458	.	0.083254	0.85682	D	0.000000	D	0.97939	0.9322	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99208	1.0875	10	0.87932	D	0	-45.2851	14.9748	0.71264	1.0:0.0:0.0:0.0	.	146;730;645	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	D	730;687;651;645;375;146;172	ENSP00000397908:N730D;ENSP00000379406:N687D;ENSP00000401522:N651D;ENSP00000256720:N645D;ENSP00000379404:N375D;ENSP00000386120:N146D;ENSP00000413714:N172D	ENSP00000256720:N645D	N	+	1	0	LPIN1	11862027	1.000000	0.71417	0.737000	0.30932	0.994000	0.84299	8.839000	0.92120	2.090000	0.63153	0.533000	0.62120	AAC		0.468	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
CCDC93	54520	broad.mit.edu	37	2	118706917	118706917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:118706917C>A	ENST00000376300.2	-	14	1260	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	CCDC93_ENST00000460781.1_5'Flank|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.E374*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	375								p.E375*(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GCTTTGGATTCTATCTTCTCG	0.418																																					p.E375X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1123T	2						.						244.0	209.0	221.0					2																	118706917		2203	4300	6503	118423387	SO:0001587	stop_gained	54520	exon14			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1123G>T	2.37:g.118706917C>A	ENSP00000365477:p.Glu375*	Somatic		Capture	Illumina HiSeq	Phase_I	118423387	NM_019044	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	39	7.324537	0.98214	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-22.5054	17.5969	0.88014	0.0:1.0:0.0:0.0	.	.	.	.	X	375;374	.	ENSP00000324135:E374X	E	-	1	0	CCDC93	118423387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.820000	0.62671	2.824000	0.97209	0.655000	0.94253	GAA		0.418	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	
EN1	2019	broad.mit.edu	37	2	119600629	119600629	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:119600629C>T	ENST00000295206.6	-	2	1574	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	355					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R355H(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GATCTTGGCGCGCTTGTTCTG	0.592																																					p.R355H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1064A	2						.						83.0	74.0	77.0					2																	119600629		2203	4300	6503	119317099	SO:0001583	missense	2019	exon2			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1064G>A	2.37:g.119600629C>T	ENSP00000295206:p.Arg355His	Somatic		Capture	Illumina HiSeq	Phase_I	119317099	NM_001426	Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064517	0.93898	.	.	ENSG00000163064	ENST00000295206	D	0.99304	-5.72	5.13	5.13	0.70059	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96766	0.9565	10	0.87932	D	0	-15.057	18.1781	0.89768	0.0:1.0:0.0:0.0	.	355	Q05925	HME1_HUMAN	H	355	ENSP00000295206:R355H	ENSP00000295206:R355H	R	-	2	0	EN1	119317099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.374000	0.81015	0.555000	0.69702	CGC		0.592	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3		
MARCO	8685	broad.mit.edu	37	2	119739972	119739972	+	Missense_Mutation	SNP	G	G	A	rs201332622		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:119739972G>A	ENST00000327097.4	+	12	1184	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	MARCO_ENST00000541757.1_Missense_Mutation_p.S272N	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	350	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.S350N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGAAAGGAAGCAAAGGGGAC	0.572																																					p.S350N	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1049A	2						.	G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	167.0	173.0	171.0		1049	2.0	1.0	2		171	4,8596	3.7+/-12.6	0,4,4296	no	missense	MARCO	NM_006770.3	46	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging	350/521	119739972	5,13001	2203	4300	6503	119456442	SO:0001583	missense	8685	exon12			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1049G>A	2.37:g.119739972G>A	ENSP00000318916:p.Ser350Asn	Somatic		Capture	Illumina HiSeq	Phase_I	119456442	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	8.343	0.829094	0.16749	2.27E-4	4.65E-4	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93426	-3.22;-3.22	4.96	1.96	0.26148	.	0.598114	0.18702	N	0.133546	D	0.89656	0.6778	L	0.28694	0.88	0.29327	N	0.866987	D	0.59357	0.985	P	0.53518	0.728	T	0.83095	-0.0131	9	.	.	.	.	3.9918	0.09539	0.2183:0.1998:0.5819:0.0	.	350	Q9UEW3	MARCO_HUMAN	N	350;350;272	ENSP00000318916:S350N;ENSP00000441769:S272N	.	S	+	2	0	MARCO	119456442	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	1.352000	0.34033	0.679000	0.31345	-0.844000	0.03045	AGC		0.572	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
SCTR	6344	broad.mit.edu	37	2	120221723	120221723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:120221723A>C	ENST00000019103.5	-	6	879	c.612T>G	c.(610-612)gaT>gaG	p.D204E		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	204					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.D204E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGTAGGTGACATCATCTGAGG	0.577																																					p.D204E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T612G	2						.						186.0	159.0	168.0					2																	120221723		2203	4300	6503	119938193	SO:0001583	missense	6344	exon6				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.612T>G	2.37:g.120221723A>C	ENSP00000019103:p.Asp204Glu	Somatic		Capture	Illumina HiSeq	Phase_I	119938193	NM_002980	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397978	0.25205	.	.	ENSG00000080293	ENST00000019103	T	0.37411	1.2	5.24	-4.01	0.04045	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000037	T	0.13970	0.0338	N	0.04132	-0.27	0.23063	N	0.998356	B	0.33379	0.41	B	0.37091	0.241	T	0.34725	-0.9817	10	0.09590	T	0.72	.	11.7575	0.51884	0.2023:0.0:0.6774:0.1202	.	204	P47872	SCTR_HUMAN	E	204	ENSP00000019103:D204E	ENSP00000019103:D204E	D	-	3	2	SCTR	119938193	0.000000	0.05858	0.019000	0.16419	0.076000	0.17211	-0.218000	0.09240	-0.829000	0.04268	-0.250000	0.11733	GAT		0.577	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
CFAP221	200373	broad.mit.edu	37	2	120404537	120404537	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:120404537C>T	ENST00000413369.3	+	22	2316	c.2229C>T	c.(2227-2229)tgC>tgT	p.C743C	PCDP1_ENST00000602047.1_Silent_p.C457C	NM_001271049.1	NP_001257978												p.C457C(1)				Colorectal(110;0.196)					TCCACAGCTGCGATTCCTTCA	0.393																																					p.C457C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	2						.						123.0	122.0	123.0					2																	120404537		2203	4300	6503	120121007	SO:0001819	synonymous_variant	200373	exon23																														ENST00000413369.3:c.2229C>T	2.37:g.120404537C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120121007	NM_001029996		Silent	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	7.153	0.584076	0.13749	.	.	ENSG00000163075	ENST00000443972;ENST00000434869	.	.	.	4.53	-6.4	0.01944	.	.	.	.	.	T	0.26738	0.0654	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38090	-0.9677	4	.	.	.	-0.1305	8.3182	0.32113	0.0:0.5386:0.14:0.3214	.	.	.	.	V	302;51	.	.	A	+	2	0	AC069154.2	120121007	0.002000	0.14202	0.046000	0.18839	0.355000	0.29361	-1.088000	0.03379	-0.666000	0.05310	-0.258000	0.10820	GCG		0.393	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
CFAP221	200373	broad.mit.edu	37	2	120409630	120409630	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:120409630A>G	ENST00000413369.3	+	23	2486	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	PCDP1_ENST00000602047.1_Missense_Mutation_p.D514G	NM_001271049.1	NP_001257978												p.D514G(1)				Colorectal(110;0.196)					AACTACAAGGACATCAGGAAG	0.363																																					p.D514G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1541G	2						.						111.0	109.0	110.0					2																	120409630		2203	4300	6503	120126100	SO:0001583	missense	200373	exon24																														ENST00000413369.3:c.2399A>G	2.37:g.120409630A>G	ENSP00000393222:p.Asp800Gly	Somatic		Capture	Illumina HiSeq	Phase_I	120126100	NM_001029996		Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.57|11.57	1.679484|1.679484	0.29783|0.29783	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972	T|.	0.34072|.	1.38|.	4.85|4.85	3.63|3.63	0.41609|0.41609	.|.	0.306753|.	0.27881|.	N|.	0.017475|.	T|T	0.52581|0.52581	0.1743|0.1743	L|L	0.39898|0.39898	1.24|1.24	0.42452|0.42452	D|D	0.992752|0.992752	B|.	0.14012|.	0.009|.	B|.	0.16289|.	0.015|.	T|T	0.48647|0.48647	-0.9017|-0.9017	10|5	0.19147|.	T|.	0.46|.	-16.7276|-16.7276	7.8077|7.8077	0.29213|0.29213	0.8157:0.0:0.0:0.1843|0.8157:0.0:0.0:0.1843	.|.	800|.	Q4G0U5|.	PCDP1_HUMAN|.	G|A	514;800|359	ENSP00000393222:D800G|.	ENSP00000295220:D514G|.	D|T	+|+	2|1	0|0	AC069154.2|AC069154.2	120126100|120126100	0.909000|0.909000	0.30893|0.30893	0.688000|0.688000	0.30117|0.30117	0.844000|0.844000	0.47949|0.47949	2.059000|2.059000	0.41384|0.41384	2.042000|2.042000	0.60477|0.60477	0.459000|0.459000	0.35465|0.35465	GAC|ACA		0.363	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
TMEM177	80775	broad.mit.edu	37	2	120438766	120438766	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:120438766G>T	ENST00000424086.1	+	2	810	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.D113Y|TMEM177_ENST00000401466.1_Missense_Mutation_p.D113Y	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	113						integral component of membrane (GO:0016021)		p.D113Y(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TTTCTTGGGAGACCTAGTGAT	0.592																																					p.D113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	2						.						173.0	188.0	183.0					2																	120438766		2203	4300	6503	120155236	SO:0001583	missense	80775	exon2			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.337G>T	2.37:g.120438766G>T	ENSP00000402661:p.Asp113Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120155236	NM_001105199	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	4.937	0.174021	0.09391	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000415646	T;T;T;T	0.51325	0.71;0.71;0.71;2.22	4.48	0.544	0.17185	.	0.329786	0.34245	N	0.004128	T	0.31765	0.0807	L	0.36672	1.1	0.09310	N	0.999992	P	0.36837	0.571	B	0.37422	0.249	T	0.19516	-1.0303	10	0.72032	D	0.01	-0.018	3.7631	0.08611	0.311:0.1849:0.5041:0.0	.	113	Q53S58	TM177_HUMAN	Y	113	ENSP00000385966:D113Y;ENSP00000402661:D113Y;ENSP00000272521:D113Y;ENSP00000405898:D113Y	ENSP00000272521:D113Y	D	+	1	0	TMEM177	120155236	0.918000	0.31147	0.035000	0.18076	0.011000	0.07611	1.700000	0.37815	0.232000	0.21100	-0.272000	0.10252	GAC		0.592	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577	
RALB	5899	broad.mit.edu	37	2	121043635	121043635	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:121043635C>A	ENST00000272519.5	+	3	570	c.300C>A	c.(298-300)tcC>tcA	p.S100S	RALB_ENST00000404963.3_Silent_p.S121S|RALB_ENST00000420510.1_Silent_p.S100S|RALB_ENST00000474855.2_Silent_p.S122S|RALB_ENST00000470417.1_Intron	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	100					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S100S(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AACATGAATCCTTTACAGCAA	0.453																																					p.S100S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300A	2						.						104.0	97.0	99.0					2																	121043635		2203	4300	6503	120760105	SO:0001819	synonymous_variant	5899	exon3				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.300C>A	2.37:g.121043635C>A		Somatic		Capture	Illumina HiSeq	Phase_I	120760105	NM_002881	B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	CCDS2131.1																																																																																				0.453	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881	
INHBB	3625	broad.mit.edu	37	2	121107354	121107354	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:121107354G>A	ENST00000295228.3	+	2	1174	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	376					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.K376K(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TTCCCACCAAGCTGAGCACCA	0.597																																					p.K376K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	2						.						37.0	36.0	36.0					2																	121107354		2203	4300	6503	120823824	SO:0001819	synonymous_variant	3625	exon2				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1128G>A	2.37:g.121107354G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120823824	NM_002193	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																				0.597	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
TFCP2L1	29842	broad.mit.edu	37	2	121995203	121995203	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:121995203G>A	ENST00000263707.5	-	10	1096	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	333					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F333F(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTCACCTGAGAAGCTGGCAA	0.567																																					p.F333F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	2						.						79.0	84.0	82.0					2																	121995203		2203	4300	6503	121711673	SO:0001819	synonymous_variant	29842	exon10			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.999C>T	2.37:g.121995203G>A		Somatic		Capture	Illumina HiSeq	Phase_I	121711673	NM_014553	Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																				0.567	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	
CLASP1	23332	broad.mit.edu	37	2	122106151	122106151	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:122106151G>A	ENST00000263710.4	-	38	4739	c.4350C>T	c.(4348-4350)gtC>gtT	p.V1450V	CLASP1_ENST00000541859.1_Silent_p.V1167V|CLASP1_ENST00000397587.3_Silent_p.V1390V|CLASP1_ENST00000455322.2_Silent_p.V1406V|CLASP1_ENST00000541377.1_Silent_p.V1389V|CLASP1_ENST00000545861.1_Silent_p.V1157V|CLASP1_ENST00000409078.3_Silent_p.V1383V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1450	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.V1450V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGATCCTCTCGACGACTTTGG	0.607																																					p.V1383V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4149T	2						.						78.0	92.0	87.0					2																	122106151		2158	4253	6411	121822621	SO:0001819	synonymous_variant	23332	exon36			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4350C>T	2.37:g.122106151G>A		Somatic		Capture	Illumina HiSeq	Phase_I	121822621	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																					0.607	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNTNAP5	129684	broad.mit.edu	37	2	125367382	125367382	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:125367382C>A	ENST00000431078.1	+	12	2122	c.1758C>A	c.(1756-1758)atC>atA	p.I586I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	586	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.I586I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCAGCCATCTACGAGCAAT	0.507																																					p.I586I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1758A	2						.						52.0	51.0	51.0					2																	125367382		1870	4109	5979	125083852	SO:0001819	synonymous_variant	129684	exon12			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1758C>A	2.37:g.125367382C>A		Somatic		Capture	Illumina HiSeq	Phase_I	125083852	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125547521	125547521	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:125547521G>A	ENST00000431078.1	+	18	3156	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	931	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R931H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGATGCATTCGCTCCTTACAC	0.488																																					p.R931H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2792A	2						.						61.0	61.0	61.0					2																	125547521		2026	4194	6220	125263991	SO:0001583	missense	129684	exon18			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2792G>A	2.37:g.125547521G>A	ENSP00000399013:p.Arg931His	Somatic		Capture	Illumina HiSeq	Phase_I	125263991	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193738	0.94960	.	.	ENSG00000155052	ENST00000431078	T	0.80994	-1.44	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000100	D	0.92001	0.7466	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93505	0.6848	10	0.87932	D	0	.	18.1624	0.89712	0.0:0.0:1.0:0.0	.	931	Q8WYK1	CNTP5_HUMAN	H	931	ENSP00000399013:R931H	ENSP00000399013:R931H	R	+	2	0	CNTNAP5	125263991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.705000	0.98719	2.619000	0.88677	0.655000	0.94253	CGC		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CYP27C1	339761	broad.mit.edu	37	2	127951417	127951417	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:127951417C>T	ENST00000335247.7	-	6	876	c.746G>A	c.(745-747)gGc>gAc	p.G249D	CYP27C1_ENST00000409327.1_Missense_Mutation_p.G249D	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	249						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.G249D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGTGACCCGGCCGTTCCCTGG	0.587																																					p.G249D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	2						.						53.0	53.0	53.0					2																	127951417		2203	4300	6503	127667887	SO:0001583	missense	339761	exon6			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.746G>A	2.37:g.127951417C>T	ENSP00000334128:p.Gly249Asp	Somatic		Capture	Illumina HiSeq	Phase_I	127667887	NM_001001665	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703734	0.68501	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.68025	-0.3;-0.3	4.68	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.73753	2.245	0.50813	D	0.999893	P	0.46859	0.885	P	0.55222	0.771	T	0.76421	-0.2965	10	0.46703	T	0.11	-1.7962	13.4747	0.61301	0.2259:0.7741:0.0:0.0	.	249	Q4G0S4	C27C1_HUMAN	D	249	ENSP00000334128:G249D;ENSP00000387198:G249D	ENSP00000334128:G249D	G	-	2	0	CYP27C1	127667887	0.995000	0.38212	0.258000	0.24420	0.540000	0.34992	3.364000	0.52328	0.725000	0.32318	0.655000	0.94253	GGC		0.587	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	
ERCC3	2071	broad.mit.edu	37	2	128044543	128044543	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:128044543G>A	ENST00000285398.2	-	8	1172	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ERCC3_ENST00000493187.2_Missense_Mutation_p.R296C	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	360	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.R360C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCAGACAGCGTTTTCTGACA	0.527			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R360C		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078T	2						.						93.0	84.0	87.0					2																	128044543		2203	4300	6503	127761013	SO:0001583	missense	2071	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1078C>T	2.37:g.128044543G>A	ENSP00000285398:p.Arg360Cys	Somatic		Capture	Illumina HiSeq	Phase_I	127761013	NM_000122	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966527	0.74131	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.38722	1.12;1.12	4.84	3.89	0.44902	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.78823	-0.2052	10	0.66056	D	0.02	-19.5789	14.1452	0.65347	0.0:0.0:0.743:0.257	.	360	P19447	ERCC3_HUMAN	C	360;296	ENSP00000285398:R360C;ENSP00000444796:R296C	ENSP00000285398:R360C	R	-	1	0	ERCC3	127761013	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.472000	0.60189	2.663000	0.90544	0.655000	0.94253	CGC		0.527	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
IWS1	55677	broad.mit.edu	37	2	128250973	128250973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:128250973C>A	ENST00000295321.4	-	9	2072	c.1813G>T	c.(1813-1815)Gaa>Taa	p.E605*	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	605	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E605*(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATGAATGTTTCTTTAAGGTCC	0.408																																					p.E605X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1813T	2						.						61.0	55.0	57.0					2																	128250973		2203	4300	6503	127967443	SO:0001587	stop_gained	55677	exon9			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1813G>T	2.37:g.128250973C>A	ENSP00000295321:p.Glu605*	Somatic		Capture	Illumina HiSeq	Phase_I	127967443	NM_017969	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	40	8.236536	0.98719	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-18.6173	18.5728	0.91142	0.0:1.0:0.0:0.0	.	.	.	.	X	605;558	.	ENSP00000295321:E605X	E	-	1	0	IWS1	127967443	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.767000	0.85331	2.390000	0.81377	0.563000	0.77884	GAA		0.408	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	
UGGT1	56886	broad.mit.edu	37	2	128936084	128936084	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:128936084A>C	ENST00000259253.6	+	34	3803	c.3756A>C	c.(3754-3756)aaA>aaC	p.K1252N	UGGT1_ENST00000375990.3_Missense_Mutation_p.K1228N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1252	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K1252N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCAAGATAAAGATGACATAA	0.358																																					p.K1252N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3756C	2						.						143.0	151.0	148.0					2																	128936084		2203	4300	6503	128652554	SO:0001583	missense	56886	exon34			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3756A>C	2.37:g.128936084A>C	ENSP00000259253:p.Lys1252Asn	Somatic		Capture	Illumina HiSeq	Phase_I	128652554	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685780	0.47991	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.09350	3.0;2.99	5.75	3.31	0.37934	.	0.048937	0.85682	D	0.000000	T	0.10294	0.0252	L	0.52759	1.655	0.58432	D	0.999997	B	0.16166	0.016	B	0.12156	0.007	T	0.13548	-1.0505	9	.	.	.	.	9.4017	0.38437	0.7966:0.0:0.2034:0.0	.	1252	Q9NYU2	UGGG1_HUMAN	N	1228;1252	ENSP00000365158:K1228N;ENSP00000259253:K1252N	.	K	+	3	2	UGGT1	128652554	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.059000	0.41384	0.421000	0.25980	0.533000	0.62120	AAA		0.358	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
RAB6C	84084	broad.mit.edu	37	2	130738048	130738048	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:130738048C>A	ENST00000410061.2	+	1	814	c.360C>A	c.(358-360)atC>atA	p.I120I	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	120	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I120I(1)		large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					GTGATGTTATCATCACGCTAG	0.413																																					p.I120I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360A	2						.						288.0	277.0	280.0					2																	130738048		2203	4300	6503	130454518	SO:0001819	synonymous_variant	84084	exon1			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.360C>A	2.37:g.130738048C>A		Somatic		Capture	Illumina HiSeq	Phase_I	130454518	NM_032144	Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	CCDS46408.1																																																																																				0.413	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144	
CCDC115	84317	broad.mit.edu	37	2	131099595	131099595	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:131099595A>G	ENST00000259229.2	-	1	327	c.104T>C	c.(103-105)gTg>gCg	p.V35A	CCDC115_ENST00000437688.2_Intron|IMP4_ENST00000409935.1_5'Flank|IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000409127.1_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	35						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V35A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TACCTCCTCCACCCGGGCGTT	0.672																																					p.V35A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T104C	2						.						74.0	78.0	77.0					2																	131099595		2203	4300	6503	130816065	SO:0001583	missense	84317	exon1			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.104T>C	2.37:g.131099595A>G	ENSP00000259229:p.Val35Ala	Somatic		Capture	Illumina HiSeq	Phase_I	130816065	NM_032357	B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708612	0.68615	.	.	ENSG00000136710	ENST00000259229	D	0.95069	-3.6	4.4	4.4	0.53042	.	0.068795	0.56097	D	0.000025	D	0.95294	0.8473	M	0.72479	2.2	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61397	0.888;0.878	D	0.93152	0.6550	10	0.16420	T	0.52	.	10.2076	0.43122	1.0:0.0:0.0:0.0	.	35;35	F8WCZ3;Q96NT0	.;CC115_HUMAN	A	35	ENSP00000259229:V35A	ENSP00000259229:V35A	V	-	2	0	CCDC115	130816065	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	5.102000	0.64572	1.976000	0.57569	0.533000	0.62120	GTG		0.672	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357	
GPR148	344561	broad.mit.edu	37	2	131487042	131487042	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:131487042C>A	ENST00000309926.4	+	1	400	c.318C>A	c.(316-318)atC>atA	p.I106I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I106I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACATGCTCATCTCCTCCAGCA	0.622																																					p.I106I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318A	2						.						60.0	65.0	63.0					2																	131487042		2203	4300	6503	131203512	SO:0001819	synonymous_variant	344561	exon1			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.318C>A	2.37:g.131487042C>A		Somatic		Capture	Illumina HiSeq	Phase_I	131203512	NM_207364	Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	CCDS2163.1																																																																																				0.622	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
POTEE	445582	broad.mit.edu	37	2	132021504	132021504	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:132021504A>C	ENST00000356920.5	+	15	2570	c.2476A>C	c.(2476-2478)Acc>Ccc	p.T826P	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	826	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T826P(1)									CATGTTTGAGACCTTCAACAC	0.627																																					p.T826P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2476C	2						.						103.0	106.0	105.0					2																	132021504		2188	4275	6463	131737974	SO:0001583	missense	445582	exon15			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2476A>C	2.37:g.132021504A>C	ENSP00000439189:p.Thr826Pro	Somatic		Capture	Illumina HiSeq	Phase_I	131737974	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.92	2.975800	0.53720	.	.	ENSG00000188219	ENST00000356920	D	0.94897	-3.55	.	.	.	.	.	.	.	.	D	0.97377	0.9142	H	0.98818	4.34	0.80722	D	1	D	0.69078	0.997	P	0.58520	0.84	D	0.94451	0.7667	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	826	Q6S8J3	POTEE_HUMAN	P	826	ENSP00000439189:T826P	ENSP00000439189:T826P	T	+	1	0	AC131180.1	131737974	1.000000	0.71417	0.324000	0.25361	0.327000	0.28475	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	ACC		0.627	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
GPR39	2863	broad.mit.edu	37	2	133174742	133174742	+	Missense_Mutation	SNP	A	A	G	rs146272935	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:133174742A>G	ENST00000329321.3	+	1	596	c.127A>G	c.(127-129)Atg>Gtg	p.M43V		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	43					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.M43V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCGTGATGGGCCTTCT	0.522																																					p.M43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127G	2						.						130.0	119.0	123.0					2																	133174742		2203	4300	6503	132891212	SO:0001583	missense	2863	exon1			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.127A>G	2.37:g.133174742A>G	ENSP00000327417:p.Met43Val	Somatic		Capture	Illumina HiSeq	Phase_I	132891212	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.701596	0.00725	.	.	ENSG00000183840	ENST00000329321	T	0.30714	1.52	5.34	2.32	0.28847	.	0.480221	0.23302	N	0.049669	T	0.07188	0.0182	N	0.00690	-1.25	0.20403	N	0.999906	B	0.02656	0.0	B	0.01281	0.0	T	0.39187	-0.9626	10	0.02654	T	1	.	8.902	0.35501	0.1572:0.1285:0.7143:0.0	.	43	O43194	GPR39_HUMAN	V	43	ENSP00000327417:M43V	ENSP00000327417:M43V	M	+	1	0	GPR39	132891212	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	1.573000	0.36472	0.804000	0.34136	-0.384000	0.06662	ATG		0.522	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1		
GPR39	2863	broad.mit.edu	37	2	133174963	133174963	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:133174963G>T	ENST00000329321.3	+	1	817	c.348G>T	c.(346-348)gaG>gaT	p.E116D		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.E116D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTCTTCGAGGCCTGCAGCT	0.572																																					p.E116D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	2						.						144.0	130.0	135.0					2																	133174963		2203	4300	6503	132891433	SO:0001583	missense	2863	exon1			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.348G>T	2.37:g.133174963G>T	ENSP00000327417:p.Glu116Asp	Somatic		Capture	Illumina HiSeq	Phase_I	132891433	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753429	0.49362	.	.	ENSG00000183840	ENST00000329321	T	0.71817	-0.6	5.06	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.56340	1.77	0.45452	D	0.998423	D	0.89917	1.0	D	0.91635	0.999	T	0.73585	-0.3936	10	0.33940	T	0.23	.	10.4258	0.44378	0.2782:0.0:0.7218:0.0	.	116	O43194	GPR39_HUMAN	D	116	ENSP00000327417:E116D	ENSP00000327417:E116D	E	+	3	2	GPR39	132891433	0.961000	0.32948	0.985000	0.45067	0.990000	0.78478	1.095000	0.30964	0.726000	0.32339	0.555000	0.69702	GAG		0.572	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1		
NCKAP5	344148	broad.mit.edu	37	2	133540809	133540809	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:133540809T>C	ENST00000409261.1	-	14	3948	c.3575A>G	c.(3574-3576)gAc>gGc	p.D1192G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1192G|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1192								p.D1192G(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTCTTGGAGTCCTCTGGCTT	0.498																																					p.D1192G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3575G	2						.						76.0	75.0	76.0					2																	133540809		1931	4147	6078	133257279	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3575A>G	2.37:g.133540809T>C	ENSP00000387128:p.Asp1192Gly	Somatic		Capture	Illumina HiSeq	Phase_I	133257279	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076830	0.36662	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12465	2.68;2.68	5.26	2.92	0.33932	.	0.395551	0.17951	U	0.156517	T	0.08846	0.0219	L	0.27053	0.805	0.09310	N	0.999993	B	0.14438	0.01	B	0.11329	0.006	T	0.29579	-1.0007	10	0.37606	T	0.19	.	6.0253	0.19652	0.0:0.0901:0.177:0.7329	.	1192	O14513	NCKP5_HUMAN	G	1192	ENSP00000387128:D1192G;ENSP00000380603:D1192G	ENSP00000380603:D1192G	D	-	2	0	NCKAP5	133257279	0.001000	0.12720	0.004000	0.12327	0.310000	0.27922	0.599000	0.24089	0.473000	0.27368	0.533000	0.62120	GAC		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133542771	133542771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:133542771G>A	ENST00000409261.1	-	14	1986	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T538I|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	538								p.T538I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCGCAACTTGTCAGCTTTTC	0.547																																					p.T538I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613T	2						.						121.0	119.0	119.0					2																	133542771		1965	4169	6134	133259241	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1613C>T	2.37:g.133542771G>A	ENSP00000387128:p.Thr538Ile	Somatic		Capture	Illumina HiSeq	Phase_I	133259241	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	8.867	0.948383	0.18356	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10477	2.87;2.87	5.38	1.47	0.22746	.	0.225382	0.21223	U	0.078105	T	0.06188	0.0160	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.30029	0.11	T	0.30909	-0.9962	10	0.46703	T	0.11	.	7.3142	0.26491	0.1482:0.2884:0.5634:0.0	.	538	O14513	NCKP5_HUMAN	I	538	ENSP00000387128:T538I;ENSP00000380603:T538I	ENSP00000380603:T538I	T	-	2	0	NCKAP5	133259241	0.655000	0.27376	0.001000	0.08648	0.539000	0.34962	2.030000	0.41108	0.376000	0.24707	0.645000	0.84053	ACA		0.547	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
ACMSD	130013	broad.mit.edu	37	2	135630111	135630111	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:135630111A>G	ENST00000356140.5	+	8	885	c.749A>G	c.(748-750)gAc>gGc	p.D250G	AC016725.4_ENST00000428857.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.D192G|ACMSD_ENST00000283054.4_Missense_Mutation_p.D192G|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	250					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.D250G(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGTGCCCAGGACAACCCCATG	0.498																																					p.D250G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A749G	2						.						144.0	120.0	128.0					2																	135630111		2203	4300	6503	135346581	SO:0001583	missense	130013	exon8			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.749A>G	2.37:g.135630111A>G	ENSP00000348459:p.Asp250Gly	Somatic		Capture	Illumina HiSeq	Phase_I	135346581	NM_138326	Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666892	0.88251	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	L	0.46670	1.46	0.80722	D	1	B;B	0.33964	0.434;0.023	B;B	0.35039	0.194;0.058	T	0.48479	-0.9032	9	0.22706	T	0.39	-21.5878	15.8787	0.79185	1.0:0.0:0.0:0.0	.	192;250	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	G	250;192;192	.	ENSP00000283054:D192G	D	+	2	0	ACMSD	135346581	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.339000	0.96797	2.168000	0.68352	0.477000	0.44152	GAC		0.498	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
CCNT2	905	broad.mit.edu	37	2	135711614	135711614	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:135711614C>A	ENST00000264157.5	+	9	1619	c.1589C>A	c.(1588-1590)tCt>tAt	p.S530Y	CCNT2_ENST00000537343.1_Missense_Mutation_p.S355Y|CCNT2_ENST00000295238.6_Missense_Mutation_p.S530Y	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	530					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S530Y(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ATAAAAGTTTCTTCTTCAGAA	0.408																																					p.S530Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1589A	2						.						56.0	58.0	57.0					2																	135711614		2203	4300	6503	135428084	SO:0001583	missense	905	exon9			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1589C>A	2.37:g.135711614C>A	ENSP00000264157:p.Ser530Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	135428084	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697205	0.48202	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.29655	1.56;1.66	5.71	5.71	0.89125	.	0.098388	0.64402	D	0.000001	T	0.51736	0.1692	L	0.53249	1.67	0.46774	D	0.999195	D;P;P	0.63880	0.993;0.916;0.95	D;P;P	0.63192	0.912;0.529;0.72	T	0.49194	-0.8965	10	0.72032	D	0.01	.	19.8769	0.96880	0.0:1.0:0.0:0.0	.	355;530;530	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	Y	355;530;530	ENSP00000295238:S530Y;ENSP00000264157:S530Y	ENSP00000264157:S530Y	S	+	2	0	CCNT2	135428084	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	7.734000	0.84928	2.712000	0.92718	0.650000	0.86243	TCT		0.408	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
MAP3K19	80122	broad.mit.edu	37	2	135756494	135756494	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:135756494C>T	ENST00000375845.3	-	5	418	c.388G>A	c.(388-390)Gag>Aag	p.E130K	MAP3K19_ENST00000392917.3_Missense_Mutation_p.E130K|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E147K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E130K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E130K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	130							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E130K(1)									TTCCTGAGCTCCACCGTTTCT	0.443																																					p.E130K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	2						.						93.0	91.0	92.0					2																	135756494		2203	4300	6503	135472964	SO:0001583	missense	80122	exon5			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.388G>A	2.37:g.135756494C>T	ENSP00000365005:p.Glu130Lys	Somatic		Capture	Illumina HiSeq	Phase_I	135472964	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883649	0.33255	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.72051	-0.6;-0.6;-0.62;-0.51;1.77	5.26	0.522	0.17053	.	0.649865	0.13468	N	0.385613	T	0.48909	0.1526	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B;B;B	0.32467	0.016;0.241;0.066;0.372;0.066;0.309	B;B;B;B;B;B	0.27500	0.011;0.058;0.036;0.08;0.036;0.054	T	0.31052	-0.9957	10	0.09338	T	0.73	.	7.4943	0.27479	0.0:0.5602:0.0:0.4398	.	130;130;130;147;130;130	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	K	130;130;130;130;147;102	ENSP00000365005:E130K;ENSP00000365004:E130K;ENSP00000376650:E130K;ENSP00000376649:E130K;ENSP00000376647:E147K	ENSP00000365004:E130K	E	-	1	0	YSK4	135472964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.124000	0.15728	-0.078000	0.12730	-0.768000	0.03414	GAG		0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
UBXN4	23190	broad.mit.edu	37	2	136530108	136530108	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:136530108G>T	ENST00000272638.9	+	9	1252	c.941G>T	c.(940-942)aGa>aTa	p.R314I	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	314					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R314I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTATGCAAGAGAAAGAAGG	0.423																																					p.R314I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G941T	2						.						77.0	72.0	74.0					2																	136530108		1881	4121	6002	136246578	SO:0001583	missense	23190	exon9			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.941G>T	2.37:g.136530108G>T	ENSP00000272638:p.Arg314Ile	Somatic		Capture	Illumina HiSeq	Phase_I	136246578	NM_014607	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133703	0.56828	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.13657	2.57	5.96	3.02	0.34903	UBX (1);	0.194092	0.52532	D	0.000076	T	0.15696	0.0378	L	0.51422	1.61	0.39545	D	0.968882	P	0.38677	0.642	B	0.42653	0.394	T	0.04128	-1.0975	10	0.38643	T	0.18	.	10.1026	0.42513	0.3397:0.0:0.6603:0.0	.	314	Q92575	UBXN4_HUMAN	I	314;296	ENSP00000272638:R314I	ENSP00000272638:R314I	R	+	2	0	UBXN4	136246578	0.967000	0.33354	0.973000	0.42090	0.715000	0.41141	1.129000	0.31381	0.766000	0.33244	0.585000	0.79938	AGA		0.423	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607	
LCT	3938	broad.mit.edu	37	2	136546042	136546042	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:136546042T>G	ENST00000264162.2	-	17	5646	c.5636A>C	c.(5635-5637)gAa>gCa	p.E1879A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1879					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1879A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGTCTGTGCTTCTGTGGTGCC	0.537																																					p.E1879A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5636C	2						.						171.0	162.0	165.0					2																	136546042		2203	4300	6503	136262512	SO:0001583	missense	3938	exon17			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5636A>C	2.37:g.136546042T>G	ENSP00000264162:p.Glu1879Ala	Somatic		Capture	Illumina HiSeq	Phase_I	136262512	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	7.653	0.683404	0.14907	.	.	ENSG00000115850	ENST00000264162	T	0.28069	1.63	6.06	2.49	0.30216	.	0.588159	0.19599	N	0.110423	T	0.25901	0.0631	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31530	-0.9940	10	0.11485	T	0.65	-8.5869	7.1595	0.25657	0.0:0.1232:0.1727:0.7041	.	1879	P09848	LPH_HUMAN	A	1879	ENSP00000264162:E1879A	ENSP00000264162:E1879A	E	-	2	0	LCT	136262512	0.005000	0.15991	0.444000	0.26895	0.136000	0.21042	0.438000	0.21559	0.542000	0.28846	-0.168000	0.13345	GAA		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136566722	136566722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:136566722C>A	ENST00000264162.2	-	8	3205	c.3195G>T	c.(3193-3195)gaG>gaT	p.E1065D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1065	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1065D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTACATGGGCTCATTAAAAG	0.507																																					p.E1065D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3195T	2						.						44.0	47.0	46.0					2																	136566722		2203	4300	6503	136283192	SO:0001583	missense	3938	exon8			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3195G>T	2.37:g.136566722C>A	ENSP00000264162:p.Glu1065Asp	Somatic		Capture	Illumina HiSeq	Phase_I	136283192	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536898	0.45176	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.71817	-0.6	5.78	3.66	0.41972	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.202113	0.53938	D	0.000058	D	0.83229	0.5209	M	0.91872	3.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	T	0.82526	-0.0413	10	0.48119	T	0.1	-21.7368	4.8552	0.13555	0.0:0.5872:0.2126:0.2002	.	1065	P09848	LPH_HUMAN	D	1065;497	ENSP00000264162:E1065D	ENSP00000264162:E1065D	E	-	3	2	LCT	136283192	0.999000	0.42202	1.000000	0.80357	0.745000	0.42441	0.643000	0.24750	1.438000	0.47492	0.563000	0.77884	GAG		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
HNMT	3176	broad.mit.edu	37	2	138762743	138762743	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:138762743C>A	ENST00000280097.3	+	5	653	c.471C>A	c.(469-471)ttC>ttA	p.F157L	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.F157L	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	157					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.F157L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CCCTGAAATTCTTCCATAGTC	0.358																																					p.F157L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C471A	2						.						205.0	197.0	200.0					2																	138762743		2203	4299	6502	138479213	SO:0001583	missense	3176	exon5				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.471C>A	2.37:g.138762743C>A	ENSP00000280097:p.Phe157Leu	Somatic		Capture	Illumina HiSeq	Phase_I	138479213	NM_006895	B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234024	0.79688	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.40756	1.02;1.02	5.48	2.63	0.31362	Methyltransferase type 12 (1);	0.046387	0.85682	D	0.000000	T	0.58163	0.2103	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.59343	-0.7472	10	0.11182	T	0.66	-9.0595	11.8002	0.52122	0.0:0.7404:0.0:0.2596	.	157	P50135	HNMT_HUMAN	L	157	ENSP00000386940:F157L;ENSP00000280097:F157L	ENSP00000280097:F157L	F	+	3	2	HNMT	138479213	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.650000	0.24858	0.776000	0.33473	0.655000	0.94253	TTC		0.358	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1		
LRP1B	53353	broad.mit.edu	37	2	140990769	140990769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:140990769C>A	ENST00000389484.3	-	91	14757	c.13786G>T	c.(13786-13788)Gag>Tag	p.E4596*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4596					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E4596K(1)|p.E4596*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCACTGTCTCTCTTATACCA	0.313										TSP Lung(27;0.18)																											p.E4596X	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G13786T	2						.						97.0	99.0	98.0					2																	140990769		2201	4297	6498	140707239	SO:0001587	stop_gained	53353	exon91			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13786G>T	2.37:g.140990769C>A	ENSP00000374135:p.Glu4596*	Somatic		Capture	Illumina HiSeq	Phase_I	140707239	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	57|57	29.313214|29.313214	0.99975|0.99975	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.64402|0.64402	U|U	0.000002|0.000002	T|.	0.78214|.	0.4248|.	.|.	.|.	.|.	0.50632|0.50632	D|D	0.999889|0.999889	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79465|.	-0.1792|.	5|.	.|0.62326	.|D	.|0.03	.|.	19.5901|19.5901	0.95506|0.95506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	794|4596;4534	.|.	.|ENSP00000374135:E4596X	E|E	-|-	3|1	2|0	LRP1B|LRP1B	140707239|140707239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.469000|7.469000	0.80959|0.80959	2.626000|2.626000	0.88956|0.88956	0.585000|0.585000	0.79938|0.79938	GAG|GAG		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141116507G>T	ENST00000389484.3	-	73	12111	c.11140C>A	c.(11140-11142)Ctt>Att	p.L3714I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3714	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3714I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368										TSP Lung(27;0.18)																											p.L3714I	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11140A	2						.						91.0	86.0	88.0					2																	141116507		2203	4299	6502	140832977	SO:0001583	missense	53353	exon73			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11140C>A	2.37:g.141116507G>T	ENSP00000374135:p.Leu3714Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140832977	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656037	0.29425	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88046	-2.33	5.46	3.64	0.41730	.	0.236710	0.34932	N	0.003580	D	0.82300	0.5007	L	0.44542	1.39	0.22719	N	0.998819	B	0.02656	0.0	B	0.01281	0.0	T	0.68644	-0.5354	10	0.35671	T	0.21	.	14.4257	0.67215	0.0:0.0:0.7301:0.2699	.	3714	Q9NZR2	LRP1B_HUMAN	I	3714;3652	ENSP00000374135:L3714I	ENSP00000374135:L3714I	L	-	1	0	LRP1B	140832977	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	4.561000	0.60809	0.673000	0.31224	-0.189000	0.12847	CTT		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141128292	141128292	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141128292C>A	ENST00000389484.3	-	71	11966	c.10995G>T	c.(10993-10995)gaG>gaT	p.E3665D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3665	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E3665D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCACAGTTCTCTTCATCAC	0.408										TSP Lung(27;0.18)																											p.E3665D	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10995T	2						.						265.0	249.0	255.0					2																	141128292		2203	4300	6503	140844762	SO:0001583	missense	53353	exon71			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10995G>T	2.37:g.141128292C>A	ENSP00000374135:p.Glu3665Asp	Somatic		Capture	Illumina HiSeq	Phase_I	140844762	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393966	0.25205	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42131	0.98	5.19	-9.61	0.00550	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.143965	0.44902	U	0.000401	T	0.16769	0.0403	L	0.28649	0.875	0.22127	N	0.999346	B	0.02656	0.0	B	0.06405	0.002	T	0.18713	-1.0328	10	0.14656	T	0.56	.	4.4786	0.11755	0.0904:0.2033:0.166:0.5404	.	3665	Q9NZR2	LRP1B_HUMAN	D	3665;3603	ENSP00000374135:E3665D	ENSP00000374135:E3665D	E	-	3	2	LRP1B	140844762	0.521000	0.26258	0.236000	0.24074	0.747000	0.42532	-0.232000	0.09055	-1.546000	0.01717	-0.424000	0.05967	GAG		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141215139	141215139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141215139G>T	ENST00000389484.3	-	61	10678	c.9707C>A	c.(9706-9708)tCa>tAa	p.S3236*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3236					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S3236*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACGGCTGAGTGACTTGGTTTT	0.428										TSP Lung(27;0.18)																											p.S3236X	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C9707A	2						.						226.0	198.0	207.0					2																	141215139		2203	4300	6503	140931609	SO:0001587	stop_gained	53353	exon61			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9707C>A	2.37:g.141215139G>T	ENSP00000374135:p.Ser3236*	Somatic		Capture	Illumina HiSeq	Phase_I	140931609	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	56	25.404598	0.99965	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	.	.	.	X	3236;3174	.	ENSP00000374135:S3236X	S	-	2	0	LRP1B	140931609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCA		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141232776	141232776	+	Missense_Mutation	SNP	G	G	A	rs567834250		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141232776G>A	ENST00000389484.3	-	60	10527	c.9556C>T	c.(9556-9558)Cgt>Tgt	p.R3186C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3186					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R3186C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAGTCTACGATTAACATAA	0.378										TSP Lung(27;0.18)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		11800	0.0		0.0	False		,,,				2504	0.0				p.R3186C	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9556T	2						.						108.0	99.0	102.0					2																	141232776		2203	4300	6503	140949246	SO:0001583	missense	53353	exon60			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9556C>T	2.37:g.141232776G>A	ENSP00000374135:p.Arg3186Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140949246	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031683	0.54790	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95238	-3.65	5.63	4.68	0.58851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.441686	0.23558	N	0.046884	D	0.91449	0.7301	L	0.53729	1.69	0.30807	N	0.739218	B	0.32893	0.389	B	0.25291	0.059	D	0.91358	0.5109	10	0.62326	D	0.03	.	13.7778	0.63064	0.0:0.0:0.735:0.265	.	3186	Q9NZR2	LRP1B_HUMAN	C	3186;3124	ENSP00000374135:R3186C	ENSP00000374135:R3186C	R	-	1	0	LRP1B	140949246	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.706000	0.47135	2.653000	0.90120	0.650000	0.86243	CGT		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141253185	141253185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141253185C>T	ENST00000389484.3	-	56	9954	c.8983G>A	c.(8983-8985)Gat>Aat	p.D2995N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2995	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D2995N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATACCCATCTGTACAGAGG	0.438										TSP Lung(27;0.18)																											p.D2995N	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8983A	2						.						207.0	186.0	193.0					2																	141253185		2203	4300	6503	140969655	SO:0001583	missense	53353	exon56			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8983G>A	2.37:g.141253185C>T	ENSP00000374135:p.Asp2995Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140969655	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151886	0.94645	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87650	-2.28	5.83	4.9	0.64082	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.130353	0.49916	D	0.000125	T	0.81211	0.4775	L	0.41027	1.25	0.44619	D	0.997596	P	0.41366	0.747	B	0.36418	0.224	T	0.79933	-0.1594	10	0.26408	T	0.33	.	16.4226	0.83772	0.0:0.8688:0.1312:0.0	.	2995	Q9NZR2	LRP1B_HUMAN	N	2995;2933	ENSP00000374135:D2995N	ENSP00000374135:D2995N	D	-	1	0	LRP1B	140969655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.814000	0.62627	2.775000	0.95449	0.585000	0.79938	GAT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141660547	141660547	+	Silent	SNP	C	C	T	rs150785160	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141660547C>T	ENST00000389484.3	-	23	4679	c.3708G>A	c.(3706-3708)aaG>aaA	p.K1236K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1236	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K1236K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACATGAGCACTTGACTGTGT	0.368										TSP Lung(27;0.18)																											p.K1236K	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3708A	2						.						161.0	148.0	153.0					2																	141660547		2203	4300	6503	141377017	SO:0001819	synonymous_variant	53353	exon23			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3708G>A	2.37:g.141660547C>T		Somatic		Capture	Illumina HiSeq	Phase_I	141377017	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141739737	141739737	+	Missense_Mutation	SNP	G	G	A	rs372595225		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141739737G>A	ENST00000389484.3	-	18	3850	c.2879C>T	c.(2878-2880)gCa>gTa	p.A960V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	960	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A960V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCACAAGATGCCATTTCATC	0.453										TSP Lung(27;0.18)																											p.A960V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2879T	2						.						144.0	127.0	133.0					2																	141739737		2203	4300	6503	141456207	SO:0001583	missense	53353	exon18			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2879C>T	2.37:g.141739737G>A	ENSP00000374135:p.Ala960Val	Somatic		Capture	Illumina HiSeq	Phase_I	141456207	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286646	0.40494	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91407	-2.84;-2.84	5.43	3.6	0.41247	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.232564	0.24759	U	0.035835	D	0.86653	0.5984	L	0.49571	1.57	0.31573	N	0.656097	B;B	0.17852	0.024;0.002	B;B	0.22152	0.038;0.012	T	0.82778	-0.0289	10	0.28530	T	0.3	.	11.386	0.49785	0.0691:0.1255:0.8054:0.0	.	143;960	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	960;898;105	ENSP00000374135:A960V;ENSP00000413239:A105V	ENSP00000374135:A960V	A	-	2	0	LRP1B	141456207	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.205000	0.51090	1.273000	0.44346	-0.165000	0.13383	GCA		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141773306	141773306	+	Missense_Mutation	SNP	C	C	T	rs143197572		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141773306C>T	ENST00000389484.3	-	13	3120	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	717					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D717N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATATGATCGTAATAGGCA	0.388										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		18053	0.0		0.0	False		,,,				2504	0.0				p.D717N	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2149A	2						.						83.0	79.0	81.0					2																	141773306		2203	4300	6503	141489776	SO:0001583	missense	53353	exon13			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2149G>A	2.37:g.141773306C>T	ENSP00000374135:p.Asp717Asn	Somatic		Capture	Illumina HiSeq	Phase_I	141489776	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.2	4.500016	0.85176	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.75	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.067684	0.56097	U	0.000024	D	0.87869	0.6286	L	0.58969	1.84	0.53688	D	0.999976	P	0.52842	0.956	B	0.38194	0.267	D	0.87318	0.2316	10	0.37606	T	0.19	.	16.8962	0.86101	0.0:0.8718:0.1282:0.0	.	717	Q9NZR2	LRP1B_HUMAN	N	717;655	ENSP00000374135:D717N	ENSP00000374135:D717N	D	-	1	0	LRP1B	141489776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.679000	0.84048	1.501000	0.48654	0.650000	0.86243	GAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TPO	7173	broad.mit.edu	37	2	1440027	1440027	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:1440027C>T	ENST00000345913.4	+	5	444	c.353C>T	c.(352-354)gCt>gTt	p.A118V	TPO_ENST00000329066.4_Missense_Mutation_p.A118V|TPO_ENST00000349624.3_Missense_Mutation_p.A118V|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A118V|TPO_ENST00000539820.1_Missense_Mutation_p.A118V|TPO_ENST00000382201.3_Missense_Mutation_p.A118V|TPO_ENST00000382269.3_Missense_Mutation_p.A118V|TPO_ENST00000337415.3_Missense_Mutation_p.A118V|TPO_ENST00000346956.3_Missense_Mutation_p.A118V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	118					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A118V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCACAGATGCTTTATCAGAA	0.418																																					p.A118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	2						.						126.0	121.0	123.0					2																	1440027		2203	4300	6503	1419034	SO:0001583	missense	7173	exon4				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.353C>T	2.37:g.1440027C>T	ENSP00000318820:p.Ala118Val	Somatic		Capture	Illumina HiSeq	Phase_I	1419034	NM_175721	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	2.066	-0.414145	0.04766	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.47	-8.13	0.01073	.	1.671720	0.02729	N	0.114883	T	0.23289	0.0563	N	0.03268	-0.37	0.09310	N	1	B;B;B;B;B	0.14438	0.001;0.001;0.01;0.002;0.0	B;B;B;B;B	0.12837	0.004;0.001;0.008;0.004;0.002	T	0.46162	-0.9211	10	0.02654	T	1	0.0777	11.7669	0.51935	0.0:0.1391:0.0966:0.7644	.	118;118;118;118;118	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	V	118;118;118;118;118;118;118;118;118;118;47	ENSP00000371704:A118V;ENSP00000337263:A118V;ENSP00000318820:A118V;ENSP00000263886:A118V;ENSP00000332044:A118V;ENSP00000444840:A118V;ENSP00000329869:A118V;ENSP00000371636:A118V;ENSP00000390994:A118V;ENSP00000371633:A118V;ENSP00000405788:A47V	ENSP00000329869:A118V	A	+	2	0	TPO	1419034	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.734000	0.04893	-1.341000	0.02225	0.462000	0.41574	GCT		0.418	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
LRP1B	53353	broad.mit.edu	37	2	142004876	142004876	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:142004876T>G	ENST00000389484.3	-	5	1482	c.511A>C	c.(511-513)Aac>Cac	p.N171H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N171H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATGTGTGTTTCTGCAGGTC	0.403										TSP Lung(27;0.18)																											p.N171H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511C	2						.						176.0	157.0	164.0					2																	142004876		2203	4300	6503	141721346	SO:0001583	missense	53353	exon5			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.511A>C	2.37:g.142004876T>G	ENSP00000374135:p.Asn171His	Somatic		Capture	Illumina HiSeq	Phase_I	141721346	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185434	0.57909	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.84944	-1.92	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	H	0.97315	3.98	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.96884	0.9648	10	0.72032	D	0.01	.	15.9682	0.79991	0.0:0.0:0.0:1.0	.	171	Q9NZR2	LRP1B_HUMAN	H	171;109	ENSP00000374135:N171H	ENSP00000374135:N171H	N	-	1	0	LRP1B	141721346	1.000000	0.71417	0.053000	0.19242	0.002000	0.02628	7.897000	0.87356	2.224000	0.72417	0.528000	0.53228	AAC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	142237979	142237979	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:142237979C>T	ENST00000389484.3	-	3	1300	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	110	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G110E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAATGTACTCCTTCGTCATA	0.403										TSP Lung(27;0.18)																											p.G110E	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	2						.						97.0	83.0	88.0					2																	142237979		2203	4300	6503	141954449	SO:0001583	missense	53353	exon3			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.329G>A	2.37:g.142237979C>T	ENSP00000374135:p.Gly110Glu	Somatic		Capture	Illumina HiSeq	Phase_I	141954449	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856604	0.91355	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97752	-4.52	5.51	5.51	0.81932	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.67700	2.07	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95947	0.8951	10	0.02654	T	1	.	19.7838	0.96428	0.0:1.0:0.0:0.0	.	110	Q9NZR2	LRP1B_HUMAN	E	110;46	ENSP00000374135:G110E	ENSP00000374135:G110E	G	-	2	0	LRP1B	141954449	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	7.172000	0.77604	2.755000	0.94549	0.650000	0.86243	GGA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KYNU	8942	broad.mit.edu	37	2	143642952	143642952	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143642952C>A	ENST00000410015.2	+	2	106	c.16C>A	c.(16-18)Ctt>Att	p.L6I	KYNU_ENST00000375773.2_Missense_Mutation_p.L6I|KYNU_ENST00000409512.1_Missense_Mutation_p.L6I|KYNU_ENST00000264170.4_Missense_Mutation_p.L6I					kynureninase									p.L6I(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GCCTTCATCTCTTGAGCTGCC	0.453																																					p.L6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16A	2						.						48.0	50.0	49.0					2																	143642952		2203	4300	6503	143359422	SO:0001583	missense	8942	exon2			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.16C>A	2.37:g.143642952C>A	ENSP00000387296:p.Leu6Ile	Somatic		Capture	Illumina HiSeq	Phase_I	143359422	NM_003937		Missense_Mutation	SNP	ENST00000410015.2	37		.	.	.	.	.	.	.	.	.	.	c	4.095	0.015605	0.07959	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.64085	0.52;-0.08;0.52	5.13	0.38	0.16222	.	1.268060	0.04949	N	0.460023	T	0.46889	0.1416	L	0.36672	1.1	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.14117	-1.0484	10	0.22706	T	0.39	.	1.9355	0.03336	0.1272:0.4684:0.1234:0.281	.	6;6	Q16719;Q9BVW3	KYNU_HUMAN;.	I	6	ENSP00000264170:L6I;ENSP00000364928:L6I;ENSP00000386731:L6I	ENSP00000264170:L6I	L	+	1	0	KYNU	143359422	0.001000	0.12720	0.039000	0.18376	0.081000	0.17604	-0.120000	0.10660	-0.111000	0.12001	-0.224000	0.12420	CTT		0.453	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998	
KYNU	8942	broad.mit.edu	37	2	143742750	143742750	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143742750A>C	ENST00000264170.4	+	9	1085	c.827A>C	c.(826-828)aAg>aCg	p.K276T	KYNU_ENST00000375773.2_Splice_Site_p.K276T|KYNU_ENST00000409512.1_Splice_Site_p.K276T	NM_003937.2	NP_003928.1			kynureninase									p.K276T(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGTTCCTACAAGGTACAAACG	0.388																																					p.K276T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A827C	2						.						201.0	188.0	193.0					2																	143742750		2203	4300	6503	143459220	SO:0001630	splice_region_variant	8942	exon9			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.828+1A>C	2.37:g.143742750A>C		Somatic		Capture	Illumina HiSeq	Phase_I	143459220	NM_003937		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717742	0.89205	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.98493	-4.96;-4.96;-4.96	6.07	6.07	0.98685	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.049290	0.85682	D	0.000000	D	0.99302	0.9756	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	276;276	Q16719;Q9BVW3	KYNU_HUMAN;.	T	276	ENSP00000264170:K276T;ENSP00000364928:K276T;ENSP00000386731:K276T	ENSP00000264170:K276T	K	+	2	0	KYNU	143459220	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.937000	0.87672	2.330000	0.79161	0.528000	0.53228	AAG		0.388	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	Missense_Mutation
KYNU	8942	broad.mit.edu	37	2	143746426	143746426	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143746426C>A	ENST00000375773.2	+	11	1014	c.915C>A	c.(913-915)ttC>ttA	p.F305L	KYNU_ENST00000409512.1_Intron|KYNU_ENST00000264170.4_Intron	NM_001032998.1	NP_001028170.1			kynureninase									p.F305L(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GATCGGAGTTCTTTAATTAGG	0.388																																					p.F305L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C915A	2						.						147.0	142.0	144.0					2																	143746426		2203	4300	6503	143462896	SO:0001583	missense	8942	exon11			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000375773.2:c.915C>A	2.37:g.143746426C>A	ENSP00000364928:p.Phe305Leu	Somatic		Capture	Illumina HiSeq	Phase_I	143462896	NM_001032998		Missense_Mutation	SNP	ENST00000375773.2	37	CCDS33299.1	.	.	.	.	.	.	.	.	.	.	C	5.997	0.367886	0.11352	.	.	ENSG00000115919	ENST00000375773	T	0.63417	-0.04	2.61	-0.389	0.12455	.	.	.	.	.	T	0.44435	0.1293	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	8	0.87932	D	0	.	2.3819	0.04357	0.2372:0.4783:0.0:0.2845	.	305	Q9BVW3	.	L	305	ENSP00000364928:F305L	ENSP00000364928:F305L	F	+	3	2	KYNU	143462896	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.433000	0.21477	-0.111000	0.12001	-0.293000	0.09583	TTC		0.388	KYNU-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332171.1	NM_001032998	
TPO	7173	broad.mit.edu	37	2	1457562	1457562	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:1457562C>T	ENST00000345913.4	+	6	670	c.579C>T	c.(577-579)ccC>ccT	p.P193P	TPO_ENST00000329066.4_Silent_p.P193P|TPO_ENST00000349624.3_Silent_p.P193P|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.P193P|TPO_ENST00000382201.3_Silent_p.P193P|TPO_ENST00000337415.3_Silent_p.P193P|TPO_ENST00000346956.3_Silent_p.P193P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	193					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.P193P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGGAACCCCGGCTTCTTGT	0.607																																					p.P193P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	2						.						43.0	47.0	46.0					2																	1457562		2203	4300	6503	1436569	SO:0001819	synonymous_variant	7173	exon5				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.579C>T	2.37:g.1457562C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1436569	NM_175721	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1																																																																																				0.607	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
KYNU	8942	broad.mit.edu	37	2	143798027	143798027	+	Missense_Mutation	SNP	C	C	T	rs140239671	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143798027C>T	ENST00000264170.4	+	13	1330	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	KYNU_ENST00000409512.1_Missense_Mutation_p.R358W	NM_003937.2	NP_003928.1			kynureninase									p.R358W(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GAAGGCATTGCGGAAAAAATC	0.343																																					p.R358W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072T	2						.	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	85.0	85.0		1072,1072	4.7	1.0	2	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	KYNU	NM_001199241.1,NM_003937.2	101,101	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	358/466,358/466	143798027	2,13002	2203	4299	6502	143514497	SO:0001583	missense	8942	exon13			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1072C>T	2.37:g.143798027C>T	ENSP00000264170:p.Arg358Trp	Somatic		Capture	Illumina HiSeq	Phase_I	143514497	NM_003937		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439804	0.43326	2.27E-4	1.16E-4	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.56444	0.46;0.46	5.81	4.67	0.58626	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.048199	0.85682	D	0.000000	T	0.76263	0.3963	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.80728	-0.1253	10	0.72032	D	0.01	.	13.0523	0.58962	0.8596:0.1404:0.0:0.0	.	358	Q16719	KYNU_HUMAN	W	358	ENSP00000264170:R358W;ENSP00000386731:R358W	ENSP00000264170:R358W	R	+	1	2	KYNU	143514497	1.000000	0.71417	0.994000	0.49952	0.079000	0.17450	3.361000	0.52306	1.034000	0.39945	-0.262000	0.10625	CGG		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
ZEB2	9839	broad.mit.edu	37	2	145156163	145156163	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:145156163A>C	ENST00000558170.2	-	8	3775	c.2591T>G	c.(2590-2592)tTt>tGt	p.F864C	ZEB2_ENST00000303660.4_Missense_Mutation_p.F864C|ZEB2_ENST00000409487.3_Missense_Mutation_p.F864C|ZEB2_ENST00000539609.3_Missense_Mutation_p.F840C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	864					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.F864C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCTTGATAAAAGTCAAGTT	0.363																																					p.F864C	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2591G	2						.						108.0	108.0	108.0					2																	145156163		2203	4300	6503	144872633	SO:0001583	missense	9839	exon8			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2591T>G	2.37:g.145156163A>C	ENSP00000454157:p.Phe864Cys	Somatic		Capture	Illumina HiSeq	Phase_I	144872633	NM_014795	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.644164	0.00792	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.11277	2.8;2.79;2.79	5.96	5.96	0.96718	.	0.098781	0.64402	D	0.000001	T	0.06645	0.0170	N	0.03154	-0.405	0.49213	D	0.999764	B;D;P;P	0.57257	0.002;0.979;0.947;0.947	B;P;B;B	0.50231	0.003;0.635;0.417;0.417	T	0.41610	-0.9499	10	0.06494	T	0.89	-10.1231	11.5191	0.50541	0.8664:0.0:0.0:0.1336	.	840;729;863;864	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	C	840;864;864	ENSP00000443792:F840C;ENSP00000302501:F864C;ENSP00000386854:F864C	ENSP00000302501:F864C	F	-	2	0	ZEB2	144872633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.285000	0.76669	0.533000	0.62120	TTT		0.363	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZEB2	9839	broad.mit.edu	37	2	145158785	145158785	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:145158785T>G	ENST00000558170.2	-	7	2081	c.897A>C	c.(895-897)gaA>gaC	p.E299D	ZEB2_ENST00000303660.4_Missense_Mutation_p.E299D|ZEB2_ENST00000409487.3_Missense_Mutation_p.E299D|ZEB2_ENST00000539609.3_Missense_Mutation_p.E275D	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	299					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E299D(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCGCAGGTGTTCTTTCAGAT	0.403																																					p.E299D	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A897C	2						.						147.0	141.0	143.0					2																	145158785		2203	4300	6503	144875255	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.897A>C	2.37:g.145158785T>G	ENSP00000454157:p.Glu299Asp	Somatic		Capture	Illumina HiSeq	Phase_I	144875255	NM_014795	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.25|16.25	3.068823|3.068823	0.55539|0.55539	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000419938	T;T;T;T;T|.	0.03635|.	3.86;3.86;3.86;3.86;3.86|.	5.34|5.34	0.244|0.244	0.15507|0.15507	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49830|0.49830	0.1580|0.1580	L|L	0.38838|0.38838	1.175|1.175	0.50813|0.50813	D|D	0.999891|0.999891	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.992;0.992;0.979|.	D;D;D;D;D|.	0.91635|.	0.999;0.997;0.987;0.989;0.982|.	T|T	0.29181|0.29181	-1.0020|-1.0020	10|5	0.87932|.	D|.	0|.	-11.1363|-11.1363	9.1201|9.1201	0.36782|0.36782	0.0:0.3927:0.0:0.6073|0.0:0.3927:0.0:0.6073	.|.	275;164;275;298;299|.	F5H814;Q53TD9;B7Z2P2;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	D|T	294;275;299;299;299;299|188	ENSP00000443792:E275D;ENSP00000302501:E299D;ENSP00000386854:E299D;ENSP00000395496:E299D;ENSP00000376601:E299D|.	ENSP00000302501:E299D|.	E|N	-|-	3|2	2|0	ZEB2|ZEB2	144875255|144875255	0.994000|0.994000	0.37717|0.37717	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	0.328000|0.328000	0.19681|0.19681	-0.174000|-0.174000	0.10743|0.10743	0.402000|0.402000	0.26972|0.26972	GAA|AAC		0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZEB2	9839	broad.mit.edu	37	2	145162452	145162452	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:145162452C>A	ENST00000558170.2	-	5	1727	c.543G>T	c.(541-543)gaG>gaT	p.E181D	ZEB2_ENST00000303660.4_Missense_Mutation_p.E181D|ZEB2_ENST00000409487.3_Missense_Mutation_p.E181D|ZEB2_ENST00000539609.3_Missense_Mutation_p.E157D	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	181					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E181D(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGACAGCTCCTCAGGGGCTT	0.517																																					p.E181D	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	2						.						59.0	52.0	54.0					2																	145162452		2203	4300	6503	144878922	SO:0001583	missense	9839	exon5			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.543G>T	2.37:g.145162452C>A	ENSP00000454157:p.Glu181Asp	Somatic		Capture	Illumina HiSeq	Phase_I	144878922	NM_014795	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.33|16.33	3.093989|3.093989	0.56075|0.56075	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000431672;ENST00000440875	T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28|.	5.62|5.62	2.69|2.69	0.31865|0.31865	.|.	0.046872|.	0.85682|.	D|.	0.000000|.	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.17082|0.17082	0.46|0.46	0.54753|0.54753	D|D	0.99998|0.99998	B;B;P;P|.	0.36027|.	0.122;0.256;0.533;0.533|.	B;B;B;B|.	0.34536|.	0.061;0.133;0.185;0.185|.	T|T	0.05818|0.05818	-1.0862|-1.0862	10|5	0.40728|.	T|.	0.16|.	-11.7942|-11.7942	8.8969|8.8969	0.35470|0.35470	0.0:0.6977:0.0:0.3023|0.0:0.6977:0.0:0.3023	.|.	157;46;180;181|.	F5H814;Q53TD9;A0JP08;O60315|.	.;.;.;ZEB2_HUMAN|.	D|M	176;157;181;181;181;181|147;168	ENSP00000443792:E157D;ENSP00000302501:E181D;ENSP00000386854:E181D;ENSP00000395496:E181D;ENSP00000376601:E181D|.	ENSP00000302501:E181D|.	E|R	-|-	3|2	2|0	ZEB2|ZEB2	144878922|144878922	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	2.702000|2.702000	0.47102|0.47102	0.332000|0.332000	0.23536|0.23536	-0.345000|-0.345000	0.07892|0.07892	GAG|AGG		0.517	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ACVR2A	92	broad.mit.edu	37	2	148674866	148674866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:148674866G>A	ENST00000241416.7	+	6	1323	c.687G>A	c.(685-687)tgG>tgA	p.W229*	ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.W121*|ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.W229*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.W229*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AACAGTCATGGCAAAATGAAT	0.368																																					p.W229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G687A	2						.						82.0	70.0	74.0					2																	148674866		2202	4300	6502	148391336	SO:0001587	stop_gained	92	exon6				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.687G>A	2.37:g.148674866G>A	ENSP00000241416:p.Trp229*	Somatic		Capture	Illumina HiSeq	Phase_I	148391336	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	43	9.966923	0.99307	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	.	.	.	X	229;121;229	.	ENSP00000241416:W229X	W	+	3	0	ACVR2A	148391336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.702000	0.92279	0.655000	0.94253	TGG		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
ORC4	5000	broad.mit.edu	37	2	148693149	148693149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:148693149G>T	ENST00000392857.5	-	14	1348	c.1241C>A	c.(1240-1242)gCt>gAt	p.A414D	ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000535373.1_Missense_Mutation_p.A414D|ORC4_ENST00000392858.1_Missense_Mutation_p.A414D|ORC4_ENST00000542387.1_Missense_Mutation_p.A197D|ORC4_ENST00000540442.1_Missense_Mutation_p.A340D|ORC4_ENST00000536575.1_Missense_Mutation_p.A330D|ORC4_ENST00000264169.2_Missense_Mutation_p.A414D	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	414					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.A414D(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTTCTGCAGAGCATTCATAAT	0.388																																					p.A414D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1241A	2						.						106.0	103.0	104.0					2																	148693149		2203	4300	6503	148409619	SO:0001583	missense	5000	exon14			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1241C>A	2.37:g.148693149G>T	ENSP00000376597:p.Ala414Asp	Somatic		Capture	Illumina HiSeq	Phase_I	148409619	NM_181741	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857987	0.91433	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.61	5.61	0.85477	.	0.053471	0.64402	D	0.000001	D	0.84165	0.5412	M	0.75777	2.31	0.80722	D	1	P	0.48589	0.912	P	0.45558	0.485	D	0.86078	0.1542	10	0.62326	D	0.03	-12.7339	19.6373	0.95740	0.0:0.0:1.0:0.0	.	414	O43929	ORC4_HUMAN	D	414;414;414;340;330;414;197	ENSP00000264169:A414D;ENSP00000441953:A414D;ENSP00000376598:A414D;ENSP00000438326:A340D;ENSP00000441502:A330D;ENSP00000376597:A414D;ENSP00000437440:A197D	ENSP00000264169:A414D	A	-	2	0	ORC4	148409619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.253000	0.95501	2.636000	0.89361	0.655000	0.94253	GCT		0.388	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742	
MBD5	55777	broad.mit.edu	37	2	149220245	149220245	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149220245C>A	ENST00000407073.1	+	7	1205	c.208C>A	c.(208-210)Ctt>Att	p.L70I	MBD5_ENST00000404807.1_Missense_Mutation_p.L70I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	70	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L70I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCTCTTATTCTTCCCAAGGT	0.343																																					p.L70I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208A	2						.						129.0	122.0	124.0					2																	149220245		2203	4300	6503	148936715	SO:0001583	missense	55777	exon7			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.208C>A	2.37:g.149220245C>A	ENSP00000386049:p.Leu70Ile	Somatic		Capture	Illumina HiSeq	Phase_I	148936715	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369828	0.82573	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51817	0.71;0.69	5.83	5.83	0.93111	Methyl-CpG DNA binding (1);	0.000000	0.56097	D	0.000033	T	0.55289	0.1911	N	0.25647	0.755	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.44190	-0.9344	10	0.22706	T	0.39	-7.4842	20.1338	0.98010	0.0:1.0:0.0:0.0	.	70	Q9P267	MBD5_HUMAN	I	70	ENSP00000386049:L70I;ENSP00000384672:L70I	ENSP00000384672:L70I	L	+	1	0	MBD5	148936715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.770000	0.95276	0.655000	0.94253	CTT		0.343	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
MBD5	55777	broad.mit.edu	37	2	149227207	149227207	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149227207C>A	ENST00000407073.1	+	9	2692	c.1695C>A	c.(1693-1695)atC>atA	p.I565I	MBD5_ENST00000404807.1_Silent_p.I565I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	565					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.I565I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAATCAGATCTTGAACCAGC	0.453																																					p.I565I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1695A	2						.						119.0	115.0	116.0					2																	149227207		2203	4300	6503	148943677	SO:0001819	synonymous_variant	55777	exon9			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1695C>A	2.37:g.149227207C>A		Somatic		Capture	Illumina HiSeq	Phase_I	148943677	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	1.822	-0.472106	0.04445	.	.	ENSG00000204406	ENST00000416015	.	.	.	4.67	2.83	0.33086	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60885	-0.7174	4	.	.	.	-5.0253	11.8965	0.52659	0.0:0.8474:0.0:0.1526	.	.	.	.	Y	305	.	.	S	+	2	0	MBD5	148943677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.729000	0.38115	1.289000	0.44618	0.655000	0.94253	TCT		0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
MBD5	55777	broad.mit.edu	37	2	149247928	149247928	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149247928A>G	ENST00000407073.1	+	12	5025	c.4028A>G	c.(4027-4029)aAa>aGa	p.K1343R	MBD5_ENST00000404807.1_Missense_Mutation_p.K1576R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1343					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.K1343R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTTAATGCCAAAAGCGTTAAT	0.428																																					p.K1343R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4028G	2						.						81.0	83.0	82.0					2																	149247928		2203	4300	6503	148964398	SO:0001583	missense	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4028A>G	2.37:g.149247928A>G	ENSP00000386049:p.Lys1343Arg	Somatic		Capture	Illumina HiSeq	Phase_I	148964398	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	9.845	1.192031	0.21954	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.49720	0.77;0.82	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	T	0.50667	0.1629	N	0.24115	0.695	0.35116	D	0.766555	D;D	0.61697	0.99;0.99	P;P	0.56216	0.794;0.794	T	0.64175	-0.6469	10	0.72032	D	0.01	-9.0216	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1576;1343	E9PHH0;Q9P267	.;MBD5_HUMAN	R	1343;1576	ENSP00000386049:K1343R;ENSP00000384672:K1576R	ENSP00000384672:K1576R	K	+	2	0	MBD5	148964398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.279000	0.76181	0.533000	0.62120	AAA		0.428	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
MBD5	55777	broad.mit.edu	37	2	149248083	149248083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149248083G>T	ENST00000407073.1	+	12	5180	c.4183G>T	c.(4183-4185)Gga>Tga	p.G1395*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.G1628*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1395	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G1395*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAAATCAAAGGACTGACTTC	0.448																																					p.G1395X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4183T	2						.						76.0	76.0	76.0					2																	149248083		2203	4300	6503	148964553	SO:0001587	stop_gained	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4183G>T	2.37:g.149248083G>T	ENSP00000386049:p.Gly1395*	Somatic		Capture	Illumina HiSeq	Phase_I	148964553	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	16.841065	0.99873	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.6707	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1395;1628	.	ENSP00000384672:G1628X	G	+	1	0	MBD5	148964553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.297000	0.78799	2.745000	0.94114	0.655000	0.94253	GGA		0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
KIF5C	3800	broad.mit.edu	37	2	149793854	149793854	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149793854C>A	ENST00000435030.1	+	4	716	c.348C>A	c.(346-348)atC>atA	p.I116I	KIF5C_ENST00000414838.2_Silent_p.I21I			O60282	KIF5C_HUMAN	kinesin family member 5C	116	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.I116I(1)|p.I19I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCCATGATATCTTTGACCATA	0.493																																					p.I92I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C276A	2						.						49.0	47.0	48.0					2																	149793854		1943	4193	6136	149502100	SO:0001819	synonymous_variant	3800	exon3			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.348C>A	2.37:g.149793854C>A		Somatic		Capture	Illumina HiSeq	Phase_I	149502100	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149856978	149856978	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:149856978C>A	ENST00000435030.1	+	20	2620	c.2252C>A	c.(2251-2253)tCt>tAt	p.S751Y	KIF5C_ENST00000414838.2_Missense_Mutation_p.S656Y|KIF5C_ENST00000397413.1_Missense_Mutation_p.S519Y|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	751					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S654Y(1)|p.S751Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAGCTTAGTTCTGATTATAAC	0.373																																					p.S727Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2180A	2						.						52.0	49.0	50.0					2																	149856978		1829	4084	5913	149565224	SO:0001583	missense	3800	exon19			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2252C>A	2.37:g.149856978C>A	ENSP00000393379:p.Ser751Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149565224	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	C	14.39	2.522633	0.44866	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.76968	-1.06;-1.06;-1.06	5.26	4.35	0.52113	.	0.212340	0.40064	N	0.001197	T	0.68568	0.3015	.	.	.	0.34671	D	0.723669	B;P	0.37276	0.0;0.589	B;B	0.34991	0.005;0.193	T	0.74902	-0.3506	8	.	.	.	.	17.0644	0.86556	0.0:0.8627:0.1373:0.0	.	751;59	O60282;Q59GB8	KIF5C_HUMAN;.	Y	751;656;654;519	ENSP00000393379:S751Y;ENSP00000410115:S656Y;ENSP00000380560:S519Y	.	S	+	2	0	KIF5C	149565224	0.349000	0.24870	1.000000	0.80357	0.998000	0.95712	1.142000	0.31540	2.746000	0.94184	0.655000	0.94253	TCT		0.373	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
RND3	390	broad.mit.edu	37	2	151331495	151331495	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:151331495G>T	ENST00000375734.2	-	3	491	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	RND3_ENST00000409557.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.S81Y|RND3_ENST00000472416.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	81					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S81Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATAGTAAGGAGAACCTGAGAA	0.473																																					p.S81Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C242A	2						.						78.0	77.0	78.0					2																	151331495		2203	4300	6503	151039741	SO:0001583	missense	390	exon4				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.242C>A	2.37:g.151331495G>T	ENSP00000364886:p.Ser81Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	151039741	NM_005168	D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319350	0.81469	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.89322	0.3641	10	0.87932	D	0	-9.2802	19.0882	0.93215	0.0:0.0:1.0:0.0	.	81;81;81	B2R838;D3DP96;P61587	.;.;RND3_HUMAN	Y	81	ENSP00000364886:S81Y;ENSP00000263895:S81Y;ENSP00000395997:S81Y;ENSP00000411950:S81Y	ENSP00000263895:S81Y	S	-	2	0	RND3	151039741	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.949000	0.87791	2.760000	0.94817	0.655000	0.94253	TCT		0.473	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168	
RBM43	375287	broad.mit.edu	37	2	152108159	152108159	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152108159G>A	ENST00000331426.5	-	4	486	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	112							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A112V(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATCAAGGATGGCATTTACAGA	0.348																																					p.A112V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C335T	2						.						44.0	50.0	48.0					2																	152108159		2131	4261	6392	151816405	SO:0001583	missense	375287	exon4			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.335C>T	2.37:g.152108159G>A	ENSP00000331211:p.Ala112Val	Somatic		Capture	Illumina HiSeq	Phase_I	151816405	NM_198557	B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680146	0.29783	.	.	ENSG00000184898	ENST00000331426	T	0.39406	1.08	5.38	2.42	0.29668	.	0.226096	0.36628	N	0.002489	T	0.27900	0.0687	N	0.24115	0.695	0.09310	N	0.999994	P	0.51537	0.946	P	0.45610	0.487	T	0.07028	-1.0794	10	0.35671	T	0.21	-17.8773	6.0425	0.19742	0.2547:0.142:0.6033:0.0	.	112	Q6ZSC3	RBM43_HUMAN	V	112	ENSP00000331211:A112V	ENSP00000331211:A112V	A	-	2	0	RBM43	151816405	0.001000	0.12720	0.018000	0.16275	0.354000	0.29330	0.213000	0.17521	0.842000	0.35045	0.655000	0.94253	GCC		0.348	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
RIF1	55183	broad.mit.edu	37	2	152330487	152330487	+	Missense_Mutation	SNP	C	C	T	rs150202744	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152330487C>T	ENST00000243326.5	+	34	7588	c.7105C>T	c.(7105-7107)Cgt>Tgt	p.R2369C	RIF1_ENST00000428287.2_Missense_Mutation_p.R2343C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2343C|RIF1_ENST00000430328.2_Missense_Mutation_p.R2343C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2369C			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R2369C(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GGTGAAGACTCGTGGACTAGA	0.328													C|||	9	0.00179712	0.0	0.013	5008	,	,		17471	0.0		0.0	False		,,,				2504	0.0				p.R2343C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7027T	2						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	61.0	65.0	64.0		7027,7027,7027,7105	5.2	1.0	2	dbSNP_134	64	0,8596		0,0,4298	yes	missense,missense,missense,missense	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	180,180,180,180	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	2343/2447,2343/2447,2343/2447,2369/2473	152330487	2,13000	2203	4298	6501	152038733	SO:0001583	missense	55183	exon33			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7105C>T	2.37:g.152330487C>T	ENSP00000243326:p.Arg2369Cys	Somatic		Capture	Illumina HiSeq	Phase_I	152038733	NM_001177665	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	C	18.93	3.727866	0.69074	4.54E-4	0.0	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.17054	2.35;2.3;2.3;2.35;2.3	5.2	5.2	0.72013	.	0.173660	0.52532	D	0.000070	T	0.20740	0.0499	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62184	0.794;0.899	T	0.00599	-1.1651	10	0.87932	D	0	-7.8041	13.6361	0.62223	0.155:0.845:0.0:0.0	.	2369;2343	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	C	2369;2343;2343;2369;2343	ENSP00000390181:R2369C;ENSP00000414615:R2343C;ENSP00000415691:R2343C;ENSP00000243326:R2369C;ENSP00000416123:R2343C	ENSP00000243326:R2369C	R	+	1	0	RIF1	152038733	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.475000	0.53136	2.593000	0.87608	0.591000	0.81541	CGT		0.328	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	broad.mit.edu	37	2	152350675	152350675	+	Splice_Site	SNP	C	C	A	rs202048855		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152350675C>A	ENST00000172853.10	-	141	19158	c.19011G>T	c.(19009-19011)tcG>tcT	p.S6337S	NEB_ENST00000604864.1_Splice_Site_p.S8193S|NEB_ENST00000509223.2_Splice_Site_p.S137S|NEB_ENST00000409198.1_Splice_Site_p.S6337S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Splice_Site_p.S168S|NEB_ENST00000498015.2_Intron|NEB_ENST00000427231.2_Splice_Site_p.S8193S|NEB_ENST00000397345.3_Splice_Site_p.S8193S|NEB_ENST00000603639.1_Splice_Site_p.S8193S			P20929	NEBU_HUMAN	nebulin	6337					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S8193S(1)|p.S6337S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGACAATACCGAGCTAATGT	0.418																																					p.S8193S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G24579T	2						.						100.0	83.0	88.0					2																	152350675		1872	4114	5986	152058921	SO:0001630	splice_region_variant	4703	exon174			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19011+1G>T	2.37:g.152350675C>A		Somatic		Capture	Illumina HiSeq	Phase_I	152058921	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.66|12.66	2.004021|2.004021	0.35320|0.35320	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337;ENST00000434685	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|.	.|.	.|.	.|.	T|T	0.76579|0.76579	0.4007|0.4007	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.74231|0.74231	-0.3732|-0.3732	4|4	.|.	.|.	.|.	.|.	19.6807|19.6807	0.95962|0.95962	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	C|L	339|327;496	.|.	.|.	G|R	-|-	1|2	0|0	NEB|NEB	152058921|152058921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.054000|2.054000	0.41335|0.41335	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Silent
NEB	4703	broad.mit.edu	37	2	152374882	152374882	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152374882C>T	ENST00000172853.10	-	128	17794	c.17647G>A	c.(17647-17649)Gat>Aat	p.D5883N	NEB_ENST00000604864.1_Missense_Mutation_p.D7584N|NEB_ENST00000409198.1_Missense_Mutation_p.D5883N|NEB_ENST00000427231.2_Missense_Mutation_p.D7584N|NEB_ENST00000397345.3_Missense_Mutation_p.D7584N|NEB_ENST00000603639.1_Missense_Mutation_p.D7584N			P20929	NEBU_HUMAN	nebulin	5883					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D7584N(1)|p.D5883N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCAGATTATCGGGTATGGTG	0.463																																					p.D7584N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G22750A	2						.						336.0	322.0	326.0					2																	152374882		1918	4125	6043	152083128	SO:0001583	missense	4703	exon156			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17647G>A	2.37:g.152374882C>T	ENSP00000172853:p.Asp5883Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152083128	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	16.53	3.149322	0.57151	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;0.998	D	0.86828	0.2009	10	0.72032	D	0.01	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	5883;7584;2314	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	N	5883;7584;7584;1932;2314;5883	ENSP00000386259:D5883N;ENSP00000380505:D7584N;ENSP00000416578:D7584N;ENSP00000410961:D2314N;ENSP00000172853:D5883N	ENSP00000172853:D5883N	D	-	1	0	NEB	152083128	1.000000	0.71417	0.310000	0.25168	0.052000	0.14988	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	GAT		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152376267	152376267	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152376267T>G	ENST00000172853.10	-	126	17539	c.17392A>C	c.(17392-17394)Aat>Cat	p.N5798H	NEB_ENST00000604864.1_Missense_Mutation_p.N7499H|NEB_ENST00000409198.1_Missense_Mutation_p.N5798H|NEB_ENST00000427231.2_Missense_Mutation_p.N7499H|NEB_ENST00000397345.3_Missense_Mutation_p.N7499H|NEB_ENST00000603639.1_Missense_Mutation_p.N7499H			P20929	NEBU_HUMAN	nebulin	5798					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.N7499H(1)|p.N5798H(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATCGAAATTTTCTCGGTAT	0.363																																					p.N7499H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A22495C	2						.						242.0	211.0	220.0					2																	152376267		1822	4073	5895	152084513	SO:0001583	missense	4703	exon154			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17392A>C	2.37:g.152376267T>G	ENSP00000172853:p.Asn5798His	Somatic		Capture	Illumina HiSeq	Phase_I	152084513	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.538385|4.538385	0.85917|0.85917	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44;1.44	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.082296	.|0.85682	.|D	.|0.000000	T|T	0.49372|0.49372	0.1553|0.1553	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.956;0.997;0.999	.|D;D;D	.|0.78314	.|0.936;0.976;0.991	T|T	0.42949|0.42949	-0.9421|-0.9421	5|10	.|0.54805	.|T	.|0.06	.|.	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|5798;7499;2229	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	N|H	121|5798;7499;7499;1847;2229;5798	.|ENSP00000386259:N5798H;ENSP00000380505:N7499H;ENSP00000416578:N7499H;ENSP00000410961:N2229H;ENSP00000172853:N5798H	.|ENSP00000172853:N5798H	K|N	-|-	3|1	2|0	NEB|NEB	152084513|152084513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	5.600000|5.600000	0.67599|0.67599	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.363	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152390743	152390743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152390743C>T	ENST00000172853.10	-	115	16447	c.16300G>A	c.(16300-16302)Gac>Aac	p.D5434N	NEB_ENST00000604864.1_Missense_Mutation_p.D7135N|NEB_ENST00000409198.1_Missense_Mutation_p.D5434N|NEB_ENST00000427231.2_Missense_Mutation_p.D7135N|NEB_ENST00000397345.3_Intron|NEB_ENST00000603639.1_Intron			P20929	NEBU_HUMAN	nebulin	5434					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D5434N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCTGGTCGCCTGCGGTC	0.527																																					p.D7135N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G21403A	2						.						173.0	177.0	176.0					2																	152390743		1995	4179	6174	152098989	SO:0001583	missense	4703	exon143			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16300G>A	2.37:g.152390743C>T	ENSP00000172853:p.Asp5434Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152098989	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.116240	0.37339	.	.	ENSG00000183091	ENST00000409198;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.03	4.24	0.50183	.	0.332419	0.34700	N	0.003748	T	0.19565	0.0470	N	0.02865	-0.47	0.80722	D	1	B;P	0.49185	0.316;0.92	B;B	0.38264	0.146;0.269	T	0.04115	-1.0976	10	0.14656	T	0.56	.	10.7381	0.46137	0.0:0.782:0.0:0.218	.	5434;1865	P20929;Q14215	NEBU_HUMAN;.	N	5434;7135;1483;1865;5434	ENSP00000386259:D5434N;ENSP00000416578:D7135N;ENSP00000410961:D1865N;ENSP00000172853:D5434N	ENSP00000172853:D5434N	D	-	1	0	NEB	152098989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.271000	0.51608	0.884000	0.36064	0.655000	0.94253	GAC		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152426656	152426656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152426656G>A	ENST00000172853.10	-	81	12413	c.12266C>T	c.(12265-12267)aCc>aTc	p.T4089I	NEB_ENST00000604864.1_Missense_Mutation_p.T5790I|NEB_ENST00000409198.1_Missense_Mutation_p.T4089I|NEB_ENST00000427231.2_Missense_Mutation_p.T5790I|NEB_ENST00000397345.3_Missense_Mutation_p.T5790I|NEB_ENST00000603639.1_Missense_Mutation_p.T5790I			P20929	NEBU_HUMAN	nebulin	4089					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T4089I(1)|p.T5790I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCATGCAGGTCCACTGGTG	0.517																																					p.T5790I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C17369T	2						.						49.0	49.0	49.0					2																	152426656		2064	4199	6263	152134902	SO:0001583	missense	4703	exon109			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12266C>T	2.37:g.152426656G>A	ENSP00000172853:p.Thr4089Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152134902	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	13.77	2.337607	0.41398	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.95	3.19	0.36642	.	0.093847	0.64402	D	0.000001	T	0.36468	0.0968	L	0.38175	1.15	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.005	T	0.17440	-1.0369	10	0.48119	T	0.1	.	10.2986	0.43639	0.2761:0.0:0.7239:0.0	.	4089;520	P20929;Q14215	NEBU_HUMAN;.	I	4089;5790;5790;138;520;4089	ENSP00000386259:T4089I;ENSP00000380505:T5790I;ENSP00000416578:T5790I;ENSP00000410961:T520I;ENSP00000172853:T4089I	ENSP00000172853:T4089I	T	-	2	0	NEB	152134902	0.999000	0.42202	0.722000	0.30670	0.994000	0.84299	2.735000	0.47377	0.863000	0.35553	0.563000	0.77884	ACC		0.517	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152506779	152506779	+	Missense_Mutation	SNP	G	G	A	rs576076237	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152506779G>A	ENST00000172853.10	-	54	7489	c.7342C>T	c.(7342-7344)Cgt>Tgt	p.R2448C	NEB_ENST00000604864.1_Missense_Mutation_p.R2448C|NEB_ENST00000409198.1_Missense_Mutation_p.R2448C|NEB_ENST00000427231.2_Missense_Mutation_p.R2448C|NEB_ENST00000397345.3_Missense_Mutation_p.R2448C|NEB_ENST00000603639.1_Missense_Mutation_p.R2448C			P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R2448C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGCTGACGATATTTCTTC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		16470	0.002		0.0	False		,,,				2504	0.0				p.R2448C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7342T	2						.						158.0	149.0	152.0					2																	152506779		1915	4129	6044	152215025	SO:0001583	missense	4703	exon54			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7342C>T	2.37:g.152506779G>A	ENSP00000172853:p.Arg2448Cys	Somatic		Capture	Illumina HiSeq	Phase_I	152215025	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.543766	0.86022	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09817	2.98;2.98;2.97;2.94	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44034	-0.9354	10	0.87932	D	0	.	15.4759	0.75478	0.0:0.0:0.861:0.139	.	2448	P20929	NEBU_HUMAN	C	2448	ENSP00000386259:R2448C;ENSP00000380505:R2448C;ENSP00000416578:R2448C;ENSP00000172853:R2448C	ENSP00000172853:R2448C	R	-	1	0	NEB	152215025	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	4.847000	0.62867	2.527000	0.85204	0.650000	0.86243	CGT		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152506854	152506854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152506854C>A	ENST00000172853.10	-	54	7414	c.7267G>T	c.(7267-7269)Gga>Tga	p.G2423*	NEB_ENST00000604864.1_Nonsense_Mutation_p.G2423*|NEB_ENST00000409198.1_Nonsense_Mutation_p.G2423*|NEB_ENST00000427231.2_Nonsense_Mutation_p.G2423*|NEB_ENST00000397345.3_Nonsense_Mutation_p.G2423*|NEB_ENST00000603639.1_Nonsense_Mutation_p.G2423*			P20929	NEBU_HUMAN	nebulin	2423					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G2423*(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGACTCCATCCTATGCCTCTC	0.448																																					p.G2423X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G7267T	2						.						94.0	89.0	90.0					2																	152506854		1854	4104	5958	152215100	SO:0001587	stop_gained	4703	exon54			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7267G>T	2.37:g.152506854C>A	ENSP00000172853:p.Gly2423*	Somatic		Capture	Illumina HiSeq	Phase_I	152215100	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	50	16.316189	0.99860	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1125	0.93323	0.0:1.0:0.0:0.0	.	.	.	.	X	2423	.	ENSP00000172853:G2423X	G	-	1	0	NEB	152215100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.770000	0.85390	2.527000	0.85204	0.650000	0.86243	GGA		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152512926	152512926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152512926C>T	ENST00000172853.10	-	49	6383	c.6236G>A	c.(6235-6237)cGc>cAc	p.R2079H	NEB_ENST00000604864.1_Missense_Mutation_p.R2079H|NEB_ENST00000409198.1_Missense_Mutation_p.R2079H|NEB_ENST00000427231.2_Missense_Mutation_p.R2079H|NEB_ENST00000397345.3_Missense_Mutation_p.R2079H|NEB_ENST00000603639.1_Missense_Mutation_p.R2079H			P20929	NEBU_HUMAN	nebulin	2079					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R2079H(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCGAGACTGCGGAAACCAAC	0.383																																					p.R2079H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6236A	2						.						191.0	181.0	184.0					2																	152512926		1920	4141	6061	152221172	SO:0001583	missense	4703	exon49			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6236G>A	2.37:g.152512926C>T	ENSP00000172853:p.Arg2079His	Somatic		Capture	Illumina HiSeq	Phase_I	152221172	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	31	5.105038	0.94245	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07908	3.15;3.18;3.18;3.15	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31558	-0.9939	10	0.56958	D	0.05	.	19.6602	0.95864	0.0:1.0:0.0:0.0	.	2079	P20929	NEBU_HUMAN	H	2079	ENSP00000386259:R2079H;ENSP00000380505:R2079H;ENSP00000416578:R2079H;ENSP00000172853:R2079H	ENSP00000172853:R2079H	R	-	2	0	NEB	152221172	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.090000	0.71397	2.651000	0.90000	0.563000	0.77884	CGC		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152522864	152522864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152522864G>T	ENST00000172853.10	-	41	4918	c.4771C>A	c.(4771-4773)Ctc>Atc	p.L1591I	NEB_ENST00000604864.1_Missense_Mutation_p.L1591I|NEB_ENST00000409198.1_Missense_Mutation_p.L1591I|NEB_ENST00000427231.2_Missense_Mutation_p.L1591I|NEB_ENST00000397345.3_Missense_Mutation_p.L1591I|NEB_ENST00000603639.1_Missense_Mutation_p.L1591I			P20929	NEBU_HUMAN	nebulin	1591					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L1591I(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAAGACTGAGAAATCCAACT	0.428																																					p.L1591I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C4771A	2						.						224.0	199.0	207.0					2																	152522864		1909	4127	6036	152231110	SO:0001583	missense	4703	exon41			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4771C>A	2.37:g.152522864G>T	ENSP00000172853:p.Leu1591Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152231110	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.789531	0.90367	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.38;3.44;3.44;3.38	5.76	5.76	0.90799	.	0.190147	0.45606	D	0.000343	T	0.07954	0.0199	N	0.19112	0.55	0.80722	D	1	B	0.25743	0.133	B	0.33196	0.159	T	0.41070	-0.9529	10	0.45353	T	0.12	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	1591	P20929	NEBU_HUMAN	I	1591	ENSP00000386259:L1591I;ENSP00000380505:L1591I;ENSP00000416578:L1591I;ENSP00000172853:L1591I	ENSP00000172853:L1591I	L	-	1	0	NEB	152231110	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.863000	0.87023	2.721000	0.93114	0.591000	0.81541	CTC		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152529066	152529066	+	Missense_Mutation	SNP	C	C	A	rs202144520		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152529066C>A	ENST00000172853.10	-	37	4263	c.4116G>T	c.(4114-4116)aaG>aaT	p.K1372N	NEB_ENST00000604864.1_Missense_Mutation_p.K1372N|NEB_ENST00000409198.1_Missense_Mutation_p.K1372N|NEB_ENST00000427231.2_Missense_Mutation_p.K1372N|NEB_ENST00000397345.3_Missense_Mutation_p.K1372N|NEB_ENST00000603639.1_Missense_Mutation_p.K1372N			P20929	NEBU_HUMAN	nebulin	1372					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K1372N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCATAGTTCTTCTTGTATT	0.483																																					p.K1372N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4116T	2						.						147.0	142.0	144.0					2																	152529066		1983	4159	6142	152237312	SO:0001583	missense	4703	exon37			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4116G>T	2.37:g.152529066C>A	ENSP00000172853:p.Lys1372Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152237312	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.140225	0.77775	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.92	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75838	-0.3176	10	0.72032	D	0.01	.	10.4787	0.44680	0.0:0.7884:0.0:0.2116	.	1372	P20929	NEBU_HUMAN	N	1372	ENSP00000386259:K1372N;ENSP00000380505:K1372N;ENSP00000416578:K1372N;ENSP00000172853:K1372N	ENSP00000172853:K1372N	K	-	3	2	NEB	152237312	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	0.823000	0.34589	0.650000	0.86243	AAG		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152544209	152544209	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152544209C>A	ENST00000172853.10	-	26	2601	c.2454G>T	c.(2452-2454)aaG>aaT	p.K818N	NEB_ENST00000604864.1_Missense_Mutation_p.K818N|NEB_ENST00000409198.1_Missense_Mutation_p.K818N|NEB_ENST00000427231.2_Missense_Mutation_p.K818N|NEB_ENST00000397345.3_Missense_Mutation_p.K818N|NEB_ENST00000603639.1_Missense_Mutation_p.K818N			P20929	NEBU_HUMAN	nebulin	818					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K818N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCAAACTTCTTGGCTTTGC	0.453																																					p.K818N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2454T	2						.						87.0	77.0	80.0					2																	152544209		1889	4130	6019	152252455	SO:0001583	missense	4703	exon26			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2454G>T	2.37:g.152544209C>A	ENSP00000172853:p.Lys818Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152252455	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.966183	0.74131	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09817	2.94;2.99;2.98;2.95	5.23	5.23	0.72850	.	0.141767	0.44902	D	0.000412	T	0.37348	0.1000	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.27297	-1.0078	10	0.66056	D	0.02	.	17.5773	0.87953	0.0:1.0:0.0:0.0	.	818	P20929	NEBU_HUMAN	N	818	ENSP00000386259:K818N;ENSP00000380505:K818N;ENSP00000416578:K818N;ENSP00000172853:K818N	ENSP00000172853:K818N	K	-	3	2	NEB	152252455	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.553000	0.45837	2.430000	0.82344	0.563000	0.77884	AAG		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152550884	152550884	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152550884C>T	ENST00000172853.10	-	20	1996	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	NEB_ENST00000604864.1_Missense_Mutation_p.D617N|NEB_ENST00000409198.1_Missense_Mutation_p.D617N|NEB_ENST00000427231.2_Missense_Mutation_p.D617N|NEB_ENST00000397345.3_Missense_Mutation_p.D617N|NEB_ENST00000603639.1_Missense_Mutation_p.D617N			P20929	NEBU_HUMAN	nebulin	617					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D617N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGATCGTCATTAATG	0.428																																					p.D617N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1849A	2						.						298.0	279.0	285.0					2																	152550884		1918	4137	6055	152259130	SO:0001583	missense	4703	exon20			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1849G>A	2.37:g.152550884C>T	ENSP00000172853:p.Asp617Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152259130	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	22.2	4.255953	0.80135	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.56124	0.1964	L	0.28344	0.845	0.80722	D	1	D;P	0.76494	0.999;0.582	D;B	0.74674	0.984;0.13	T	0.49916	-0.8888	10	0.31617	T	0.26	.	17.1936	0.86887	0.0:1.0:0.0:0.0	.	250;617	Q86TG3;P20929	.;NEBU_HUMAN	N	617	ENSP00000386259:D617N;ENSP00000380505:D617N;ENSP00000416578:D617N;ENSP00000172853:D617N	ENSP00000172853:D617N	D	-	1	0	NEB	152259130	1.000000	0.71417	0.858000	0.33744	0.988000	0.76386	5.368000	0.66133	2.797000	0.96272	0.655000	0.94253	GAT		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NBAS	51594	broad.mit.edu	37	2	15542317	15542317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:15542317C>A	ENST00000281513.5	-	26	3071	c.3046G>T	c.(3046-3048)Gaa>Taa	p.E1016*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.E896*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1016					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1016*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCAGACATTCTAGTAGGTCA	0.373																																					p.E1016X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3046T	2						.						148.0	141.0	143.0					2																	15542317		2203	4300	6503	15459768	SO:0001587	stop_gained	51594	exon26			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3046G>T	2.37:g.15542317C>A	ENSP00000281513:p.Glu1016*	Somatic		Capture	Illumina HiSeq	Phase_I	15459768	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.296770|6.296770|6.296770	0.97453|0.97453|0.97453	.|.|.	.|.|.	ENSG00000151779|ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842|ENST00000442506	.|.|.	.|.|.	.|.|.	5.65|5.65|5.65	4.76|4.76|4.76	0.60689|0.60689|0.60689	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.66470|.	.|0.2792|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.71570|.	.|-0.4553|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	14.836|14.836|14.836	0.70183|0.70183|0.70183	0.1454:0.8546:0.0:0.0|0.1454:0.8546:0.0:0.0|0.1454:0.8546:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	896;1016;63|113|63	.|.|.	ENSP00000281513:E1016X|.|.	E|R|X	-|-|-	1|2|3	0|0|2	NBAS|NBAS|NBAS	15459768|15459768|15459768	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.858000|0.858000|0.858000	0.33744|0.33744|0.33744	0.223000|0.223000|0.223000	0.24884|0.24884|0.24884	7.133000|7.133000|7.133000	0.77259|0.77259|0.77259	1.352000|1.352000|1.352000	0.45808|0.45808|0.45808	-0.181000|-0.181000|-0.181000	0.13052|0.13052|0.13052	GAA|AGA|TAG		0.373	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
NBAS	51594	broad.mit.edu	37	2	15557674	15557674	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:15557674T>G	ENST00000281513.5	-	24	2765	c.2740A>C	c.(2740-2742)Aaa>Caa	p.K914Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	914					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K914Q(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTTAGTTTTTCAATGTCT	0.328																																					p.K914Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2740C	2						.						76.0	69.0	71.0					2																	15557674		2203	4300	6503	15475125	SO:0001583	missense	51594	exon24			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2740A>C	2.37:g.15557674T>G	ENSP00000281513:p.Lys914Gln	Somatic		Capture	Illumina HiSeq	Phase_I	15475125	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.89|14.89	2.671093|2.671093	0.47781|0.47781	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	T|.	0.18657|.	2.2|.	5.72|5.72	4.51|4.51	0.55191|0.55191	Secretory pathway Sec39 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|.	0.33288|.	0.406|.	B|.	0.34138|.	0.176|.	T|T	0.69778|0.69778	-0.5053|-0.5053	10|6	0.87932|.	D|.	0|.	.|.	14.1513|14.1513	0.65387|0.65387	0.0:0.0:0.1329:0.8671|0.0:0.0:0.1329:0.8671	.|.	914|.	A2RRP1|.	NBAS_HUMAN|.	Q|T	914|11	ENSP00000281513:K914Q|.	ENSP00000281513:K914Q|.	K|K	-|-	1|2	0|0	NBAS|NBAS	15475125|15475125	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.898000|0.898000	0.52572|0.52572	5.868000|5.868000	0.69605|0.69605	2.193000|2.193000	0.70182|0.70182	0.477000|0.477000	0.44152|0.44152	AAA|AAA		0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
STAM2	10254	broad.mit.edu	37	2	153003791	153003791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:153003791G>T	ENST00000263904.4	-	5	681	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	111	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S111Y(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CACCATTAAAGATTTCAGTTT	0.303																																					p.S111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332A	2						.						67.0	69.0	68.0					2																	153003791		2203	4300	6503	152712037	SO:0001583	missense	10254	exon5			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.332C>A	2.37:g.153003791G>T	ENSP00000263904:p.Ser111Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	152712037	NM_005843	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295361	0.60086	.	.	ENSG00000115145	ENST00000263904	T	0.23147	1.92	5.57	4.69	0.59074	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.178173	0.52532	D	0.000071	T	0.25195	0.0612	L	0.31476	0.935	0.46376	D	0.999013	P;B	0.41159	0.74;0.034	B;B	0.42882	0.401;0.066	T	0.03025	-1.1081	10	0.56958	D	0.05	-12.1523	15.9084	0.79447	0.0:0.0:0.8637:0.1363	.	111;111	O75886-2;O75886	.;STAM2_HUMAN	Y	111	ENSP00000263904:S111Y	ENSP00000263904:S111Y	S	-	2	0	STAM2	152712037	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	7.951000	0.87819	1.344000	0.45657	-0.169000	0.13324	TCT		0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843	
GALNT13	114805	broad.mit.edu	37	2	155102455	155102455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:155102455G>T	ENST00000392825.3	+	7	1384	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.E273*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	273					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E273*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCCCCAAAGAGAAATGGACAG	0.378																																					p.E273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G817T	2						.						71.0	71.0	71.0					2																	155102455		2203	4300	6503	154810701	SO:0001587	stop_gained	114805	exon7			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.817G>T	2.37:g.155102455G>T	ENSP00000376570:p.Glu273*	Somatic		Capture	Illumina HiSeq	Phase_I	154810701	NM_052917	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Nonsense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	44	10.598264	0.99435	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9784	0.89133	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000376570:E273X	E	+	1	0	GALNT13	154810701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.577000	0.86979	0.580000	0.79431	GAA		0.378	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
GALNT13	114805	broad.mit.edu	37	2	155252620	155252620	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:155252620G>T	ENST00000392825.3	+	10	1841	c.1274G>T	c.(1273-1275)aGa>aTa	p.R425I	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.R425I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	425					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R425I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGATCCCAAGACGTTATTAC	0.343																																					p.R425I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1274T	2						.						79.0	80.0	80.0					2																	155252620		2203	4300	6503	154960866	SO:0001583	missense	114805	exon10			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1274G>T	2.37:g.155252620G>T	ENSP00000376570:p.Arg425Ile	Somatic		Capture	Illumina HiSeq	Phase_I	154960866	NM_052917	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.16|17.16	3.318027|3.318027	0.60524|0.60524	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000450838|ENST00000392825;ENST00000409237	.|T;T	.|0.64085	.|-0.08;-0.08	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Ricin B-related lectin (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48589|0.48589	0.1508|0.1508	N|N	0.16790|0.16790	0.44|0.44	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.11235	.|0.002;0.001;0.004;0.0	.|B;B;B;B	.|0.14578	.|0.011;0.003;0.004;0.003	T|T	0.39643|0.39643	-0.9604|-0.9604	5|10	.|0.37606	.|T	.|0.19	.|.	17.2651|17.2651	0.87084|0.87084	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|425;425;425;425	.|Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.|.;.;.;GLT13_HUMAN	N|I	43|425	.|ENSP00000376570:R425I;ENSP00000387239:R425I	.|ENSP00000376570:R425I	K|R	+|+	3|2	2|0	GALNT13|GALNT13	154960866|154960866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.626000|9.626000	0.98410|0.98410	2.492000|2.492000	0.84095|0.84095	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
NBAS	51594	broad.mit.edu	37	2	15615895	15615895	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:15615895C>A	ENST00000281513.5	-	14	1282	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	NBAS_ENST00000441750.1_Missense_Mutation_p.K419N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	419					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K419N(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGTAAATTCTTCAAAGTTT	0.428																																					p.K419N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1257T	2						.						74.0	76.0	75.0					2																	15615895		2203	4300	6503	15533346	SO:0001583	missense	51594	exon14			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1257G>T	2.37:g.15615895C>A	ENSP00000281513:p.Lys419Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15533346	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295311	0.40594	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.10668	2.85;3.01	6.09	4.29	0.51040	.	0.288882	0.37348	N	0.002132	T	0.12050	0.0293	L	0.43152	1.355	0.25427	N	0.98822	P	0.43094	0.799	B	0.42692	0.395	T	0.08806	-1.0704	10	0.87932	D	0	.	10.2289	0.43243	0.0:0.7628:0.0:0.2372	.	419	A2RRP1	NBAS_HUMAN	N	419	ENSP00000413201:K419N;ENSP00000281513:K419N	ENSP00000281513:K419N	K	-	3	2	NBAS	15533346	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.983000	0.29552	1.598000	0.50083	0.655000	0.94253	AAG		0.428	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
KCNJ3	3760	broad.mit.edu	37	2	155566324	155566324	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:155566324A>T	ENST00000295101.2	+	2	1389	c.912A>T	c.(910-912)gaA>gaT	p.E304D	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	304					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.E304D(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCATTGTGGAAACAACTGGTG	0.408																																					p.E304D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A912T	2						.						74.0	69.0	70.0					2																	155566324		2203	4300	6503	155274570	SO:0001583	missense	3760	exon2			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.912A>T	2.37:g.155566324A>T	ENSP00000295101:p.Glu304Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155274570	NM_002239	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529694	0.64860	.	.	ENSG00000162989	ENST00000295101	D	0.95342	-3.68	5.28	5.28	0.74379	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	M	0.88512	2.96	0.80722	D	1	P	0.39862	0.692	P	0.51945	0.685	D	0.97005	0.9732	10	0.87932	D	0	.	10.7283	0.46081	0.9225:0.0:0.0774:0.0	.	304	P48549	IRK3_HUMAN	D	304	ENSP00000295101:E304D	ENSP00000295101:E304D	E	+	3	2	KCNJ3	155274570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.771000	0.38542	2.122000	0.65172	0.454000	0.30748	GAA		0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
KCNJ3	3760	broad.mit.edu	37	2	155711415	155711415	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:155711415C>A	ENST00000295101.2	+	3	1573	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	366					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L366I(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGAAATGCTTCTCATGTCGTC	0.408																																					p.L366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096A	2						.						106.0	107.0	107.0					2																	155711415		2203	4300	6503	155419661	SO:0001583	missense	3760	exon3			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1096C>A	2.37:g.155711415C>A	ENSP00000295101:p.Leu366Ile	Somatic		Capture	Illumina HiSeq	Phase_I	155419661	NM_002239	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675557	0.29783	.	.	ENSG00000162989	ENST00000295101	D	0.93906	-3.31	5.7	5.7	0.88788	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.87645	0.6229	N	0.11927	0.2	0.80722	D	1	B	0.20164	0.042	B	0.24701	0.055	T	0.82333	-0.0509	10	0.23302	T	0.38	.	18.8359	0.92162	0.0:1.0:0.0:0.0	.	366	P48549	IRK3_HUMAN	I	366	ENSP00000295101:L366I	ENSP00000295101:L366I	L	+	1	0	KCNJ3	155419661	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.920000	0.70017	2.704000	0.92352	0.650000	0.86243	CTC		0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
KCNJ3	3760	broad.mit.edu	37	2	155711555	155711555	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:155711555T>C	ENST00000295101.2	+	3	1713	c.1236T>C	c.(1234-1236)ttT>ttC	p.F412F	KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	412					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.F412F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAGAAGACTTTCCCAAAAAAC	0.393																																					p.F412F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1236C	2						.						77.0	86.0	83.0					2																	155711555		2203	4300	6503	155419801	SO:0001819	synonymous_variant	3760	exon3			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1236T>C	2.37:g.155711555T>C		Somatic		Capture	Illumina HiSeq	Phase_I	155419801	NM_002239	B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	CCDS2200.1																																																																																				0.393	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
GPD2	2820	broad.mit.edu	37	2	157332647	157332647	+	Silent	SNP	G	G	A	rs572409828	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:157332647G>A	ENST00000310454.6	+	2	402	c.30G>A	c.(28-30)acG>acA	p.T10T	GPD2_ENST00000409674.1_Silent_p.T10T|GPD2_ENST00000409125.4_5'UTR|GPD2_ENST00000540309.1_Silent_p.T10T|GPD2_ENST00000438166.2_Silent_p.T10T	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	10					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.T10T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGAAAGGGACGATTCTTGTTG	0.368													G|||	2	0.000399361	0.0	0.0	5008	,	,		19491	0.002		0.0	False		,,,				2504	0.0				p.T10T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G30A	2						.						166.0	155.0	159.0					2																	157332647		2203	4300	6503	157040893	SO:0001819	synonymous_variant	2820	exon2				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.30G>A	2.37:g.157332647G>A		Somatic		Capture	Illumina HiSeq	Phase_I	157040893	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																				0.368	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
CCDC148	130940	broad.mit.edu	37	2	159033082	159033082	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:159033082A>C	ENST00000283233.5	-	13	1893	c.1580T>G	c.(1579-1581)tTt>tGt	p.F527C	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.F536C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	527								p.F527C(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGAAGAATAAATTCTTCTTC	0.348																																					p.F527C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1580G	2						.						131.0	114.0	119.0					2																	159033082		2203	4300	6503	158741328	SO:0001583	missense	130940	exon13				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1580T>G	2.37:g.159033082A>C	ENSP00000283233:p.Phe527Cys	Somatic		Capture	Illumina HiSeq	Phase_I	158741328	NM_138803	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857026	0.51376	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.25085	1.82;1.82	5.82	5.82	0.92795	.	.	.	.	.	T	0.42743	0.1216	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.19353	-1.0308	9	0.48119	T	0.1	-16.5014	14.992	0.71396	1.0:0.0:0.0:0.0	.	536;527	B8ZZV3;Q8NFR7	.;CC148_HUMAN	C	527;536	ENSP00000283233:F527C;ENSP00000386674:F536C	ENSP00000283233:F527C	F	-	2	0	CCDC148	158741328	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.029000	0.64121	2.225000	0.72522	0.454000	0.30748	TTT		0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803	
PKP4	8502	broad.mit.edu	37	2	159433884	159433884	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:159433884C>T	ENST00000389759.3	+	3	346	c.234C>T	c.(232-234)atC>atT	p.I78I	PKP4_ENST00000389757.3_Silent_p.I78I	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	78					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.I78I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCAAGCATCGCCAGCACCA	0.478										HNSCC(62;0.18)																											p.I78I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234T	2						.						81.0	64.0	70.0					2																	159433884		2203	4300	6503	159142130	SO:0001819	synonymous_variant	8502	exon3			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.234C>T	2.37:g.159433884C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159142130	NM_003628	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																				0.478	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
PKP4	8502	broad.mit.edu	37	2	159514664	159514664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:159514664C>A	ENST00000389759.3	+	12	2043	c.1931C>A	c.(1930-1932)tCa>tAa	p.S644*	PKP4_ENST00000389757.3_Nonsense_Mutation_p.S644*|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	644					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S644*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AATTTATCCTCATGTGATGCT	0.318										HNSCC(62;0.18)																											p.S644X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1931A	2						.						118.0	116.0	116.0					2																	159514664		2203	4300	6503	159222910	SO:0001587	stop_gained	8502	exon12			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1931C>A	2.37:g.159514664C>A	ENSP00000374409:p.Ser644*	Somatic		Capture	Illumina HiSeq	Phase_I	159222910	NM_003628	Q86W91	Nonsense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	39	7.418563	0.98272	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6474	19.6476	0.95789	0.0:1.0:0.0:0.0	.	.	.	.	X	495;644;644	.	ENSP00000374407:S644X	S	+	2	0	PKP4	159222910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.653000	0.90120	0.655000	0.94253	TCA		0.318	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
WDSUB1	151525	broad.mit.edu	37	2	160112880	160112880	+	Missense_Mutation	SNP	C	C	T	rs141991034		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160112880C>T	ENST00000409990.3	-	9	1215	c.959G>A	c.(958-960)cGc>cAc	p.R320H	WDSUB1_ENST00000358147.4_Missense_Mutation_p.R228H|WDSUB1_ENST00000409124.1_Missense_Mutation_p.R320H|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R320H|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R320H	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	320			R -> S (in dbSNP:rs7591849). {ECO:0000269|PubMed:14702039}.				ubiquitin-protein transferase activity (GO:0004842)	p.R320H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						ATGTTCTGTGCGCCTTGCTTA	0.323																																					p.R320H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	2						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	81.0	78.0	79.0		959,959,959	1.6	0.5	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDSUB1	NM_001128212.1,NM_001128213.1,NM_152528.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	320/477,320/477,320/477	160112880	1,13005	2203	4300	6503	159821126	SO:0001583	missense	151525	exon9			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.959G>A	2.37:g.160112880C>T	ENSP00000387078:p.Arg320His	Somatic		Capture	Illumina HiSeq	Phase_I	159821126	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250700	0.59212	0.0	1.16E-4	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.58358	0.6;0.34;0.6;0.6;0.6	5.54	1.62	0.23740	WD40/YVTN repeat-like-containing domain (1);	0.519406	0.23402	N	0.048580	T	0.27663	0.0680	N	0.12746	0.255	0.09310	N	1	B;B;B	0.28178	0.202;0.04;0.104	B;B;B	0.28553	0.091;0.013;0.003	T	0.09796	-1.0658	10	0.44086	T	0.13	.	3.164	0.06529	0.1166:0.5272:0.1504:0.2058	.	228;320;320	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	H	320;228;320;320;320	ENSP00000352820:R320H;ENSP00000350866:R228H;ENSP00000376545:R320H;ENSP00000387078:R320H;ENSP00000386891:R320H	ENSP00000350866:R228H	R	-	2	0	WDSUB1	159821126	0.000000	0.05858	0.544000	0.28141	0.985000	0.73830	0.018000	0.13422	0.657000	0.30906	0.655000	0.94253	CGC		0.323	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
WDSUB1	151525	broad.mit.edu	37	2	160136445	160136445	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160136445A>G	ENST00000409990.3	-	3	666	c.410T>C	c.(409-411)gTt>gCt	p.V137A	WDSUB1_ENST00000358147.4_Missense_Mutation_p.V137A|WDSUB1_ENST00000409124.1_Missense_Mutation_p.V137A|WDSUB1_ENST00000359774.4_Missense_Mutation_p.V137A|WDSUB1_ENST00000392796.3_Missense_Mutation_p.V137A	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	137							ubiquitin-protein transferase activity (GO:0004842)	p.V137A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCATCTTTAACACTACCACA	0.398																																					p.V137A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T410C	2						.						61.0	60.0	60.0					2																	160136445		2203	4300	6503	159844691	SO:0001583	missense	151525	exon3			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.410T>C	2.37:g.160136445A>G	ENSP00000387078:p.Val137Ala	Somatic		Capture	Illumina HiSeq	Phase_I	159844691	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	A	8.564	0.878546	0.17395	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.64618	3.66;-0.11;3.66;3.66;0.73	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.167960	0.51477	D	0.000083	T	0.52565	0.1742	N	0.04768	-0.165	0.51482	D	0.99992	P;D;P	0.60575	0.778;0.988;0.528	P;P;B	0.51615	0.472;0.675;0.177	T	0.59021	-0.7532	10	0.36615	T	0.2	.	16.3908	0.83537	1.0:0.0:0.0:0.0	.	137;137;137	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	A	137	ENSP00000352820:V137A;ENSP00000350866:V137A;ENSP00000376545:V137A;ENSP00000387078:V137A;ENSP00000386891:V137A	ENSP00000350866:V137A	V	-	2	0	WDSUB1	159844691	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.724000	0.74747	2.269000	0.75478	0.455000	0.32223	GTT		0.398	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
BAZ2B	29994	broad.mit.edu	37	2	160335215	160335215	+	Missense_Mutation	SNP	G	G	A	rs201823989		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160335215G>A	ENST00000392783.2	-	3	511	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R6W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R6W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R6W|BAZ2B_ENST00000483316.1_5'UTR	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R6W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GATGGTAACCGTTCTCCAGAC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		14627	0.0		0.001	False		,,,				2504	0.0				p.R6W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16T	2						.						130.0	124.0	126.0					2																	160335215		1891	4112	6003	160043461	SO:0001583	missense	29994	exon3			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.16C>T	2.37:g.160335215G>A	ENSP00000376534:p.Arg6Trp	Somatic		Capture	Illumina HiSeq	Phase_I	160043461	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.47	2.546391	0.45383	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335;ENST00000541068;ENST00000437839	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.78	3.89	0.44902	.	0.356984	0.15377	U	0.265557	T	0.48314	0.1493	L	0.47716	1.5	0.26110	N	0.980695	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.993;0.995	P;P;P;P;P	0.59288	0.799;0.855;0.799;0.707;0.513	T	0.39820	-0.9595	10	0.72032	D	0.01	-0.0445	12.9895	0.58610	0.0:0.0:0.5766:0.4234	.	6;6;6;6;6	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	W	6	ENSP00000376533:R6W;ENSP00000376534:R6W;ENSP00000348087:R6W;ENSP00000339670:R6W;ENSP00000441341:R6W;ENSP00000415613:R6W	ENSP00000339670:R6W	R	-	1	2	BAZ2B	160043461	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.381000	0.20619	0.819000	0.34492	0.591000	0.81541	CGG		0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
CD302	9936	broad.mit.edu	37	2	160634463	160634463	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160634463C>A	ENST00000259053.4	-	5	525	c.482G>T	c.(481-483)aGg>aTg	p.R161M	LY75_ENST00000553424.1_Missense_Mutation_p.R1746M|LY75_ENST00000554112.1_Missense_Mutation_p.R1802M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1746M|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1802M|CD302_ENST00000429078.2_Missense_Mutation_p.R103M	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	161					phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.R161M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TAAATATTTCCTTTTGTATGG	0.219																																					p.R1746M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5237T	2						.						9.0	10.0	10.0					2																	160634463		1855	3913	5768	160342709	SO:0001583	missense	4065	exon37			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.482G>T	2.37:g.160634463C>A	ENSP00000259053:p.Arg161Met	Somatic		Capture	Illumina HiSeq	Phase_I	160342709	NM_001198760	A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270905	0.40194	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.18657	3.21;2.2;2.95;2.95;2.95;2.95	5.53	1.67	0.24075	.	0.921146	0.09233	N	0.830343	T	0.11110	0.0271	N	0.08118	0	0.23492	N	0.997565	D;P;P;P	0.54601	0.967;0.785;0.867;0.88	B;B;B;B	0.43536	0.423;0.35;0.35;0.332	T	0.15407	-1.0438	10	0.48119	T	0.1	-25.0164	5.1975	0.15246	0.0:0.1202:0.166:0.7138	.	103;1746;1802;161	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	M	161;103;1802;1746;1802;1746	ENSP00000259053:R161M;ENSP00000394301:R103M;ENSP00000451511:R1802M;ENSP00000451446:R1746M;ENSP00000423463:R1802M;ENSP00000421035:R1746M	ENSP00000259053:R161M	R	-	2	0	LY75;CD302;LY75-CD302	160342709	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	1.279000	0.33191	0.095000	0.17434	-0.157000	0.13467	AGG		0.219	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880	
PLA2R1	22925	broad.mit.edu	37	2	160806200	160806200	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160806200C>T	ENST00000283243.7	-	25	3834	c.3628G>A	c.(3628-3630)Gtt>Att	p.V1210I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V1210I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1210	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.V1210I(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCGGCAAAAACGCAGTCACCA	0.473																																					p.V1210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3628A	2						.						85.0	81.0	82.0					2																	160806200		2203	4300	6503	160514446	SO:0001583	missense	22925	exon25			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3628G>A	2.37:g.160806200C>T	ENSP00000283243:p.Val1210Ile	Somatic		Capture	Illumina HiSeq	Phase_I	160514446	NM_001007267	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560660	0.86335	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.59638	0.25;0.25	5.8	4.82	0.62117	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.584232	0.16328	N	0.219234	T	0.70789	0.3264	M	0.76574	2.34	0.30537	N	0.766878	D;P;P	0.61697	0.99;0.939;0.94	P;B;B	0.60173	0.87;0.412;0.439	T	0.67795	-0.5578	10	0.30854	T	0.27	.	13.3646	0.60676	0.0:0.8971:0.0:0.1029	.	1210;1210;1210	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	I	1210	ENSP00000283243:V1210I;ENSP00000376524:V1210I	ENSP00000283243:V1210I	V	-	1	0	PLA2R1	160514446	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.385000	0.52485	2.744000	0.94065	0.655000	0.94253	GTT		0.473	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	broad.mit.edu	37	2	160840477	160840477	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160840477C>A	ENST00000283243.7	-	13	2351	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E715D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	715	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.E715D(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCACAAAATTCTCTTCCTCAA	0.328																																					p.E715D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2145T	2						.						53.0	57.0	56.0					2																	160840477		2202	4300	6502	160548723	SO:0001583	missense	22925	exon13			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2145G>T	2.37:g.160840477C>A	ENSP00000283243:p.Glu715Asp	Somatic		Capture	Illumina HiSeq	Phase_I	160548723	NM_001007267	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392204	0.62066	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16897	2.31;2.31	5.68	2.37	0.29283	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.056595	0.64402	D	0.000001	T	0.30135	0.0755	L	0.60455	1.87	0.44388	D	0.997299	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.998	T	0.06679	-1.0813	10	0.18276	T	0.48	.	7.9196	0.29837	0.0:0.4028:0.0:0.5972	.	715;715;715	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	715	ENSP00000283243:E715D;ENSP00000376524:E715D	ENSP00000283243:E715D	E	-	3	2	PLA2R1	160548723	0.794000	0.28838	1.000000	0.80357	0.992000	0.81027	0.805000	0.27112	0.207000	0.20607	-0.142000	0.14014	GAG		0.328	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	broad.mit.edu	37	2	160843829	160843829	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160843829T>G	ENST00000283243.7	-	12	2081	c.1875A>C	c.(1873-1875)ccA>ccC	p.P625P	PLA2R1_ENST00000392771.1_Silent_p.P625P	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	625	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.P625P(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGCGACCAAGTGGATGCCTTC	0.458																																					p.P625P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1875C	2						.						64.0	53.0	56.0					2																	160843829		2203	4300	6503	160552075	SO:0001819	synonymous_variant	22925	exon12			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1875A>C	2.37:g.160843829T>G		Somatic		Capture	Illumina HiSeq	Phase_I	160552075	NM_001007267	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.458	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
ITGB6	3694	broad.mit.edu	37	2	160980353	160980353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:160980353C>A	ENST00000283249.2	-	12	2167	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.E644*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.E602*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	644					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.E644*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCACACATTCTTCTCGGGCT	0.453																																					p.E644X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1930T	2						.						176.0	153.0	161.0					2																	160980353		2203	4300	6503	160688599	SO:0001587	stop_gained	3694	exon12				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1930G>T	2.37:g.160980353C>A	ENSP00000283249:p.Glu644*	Somatic		Capture	Illumina HiSeq	Phase_I	160688599	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	40	8.042822	0.98624	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	.	.	.	5.52	5.52	0.82312	.	0.299528	0.35739	N	0.003006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.7963	0.96484	0.0:1.0:0.0:0.0	.	.	.	.	X	644;602;644	.	ENSP00000283249:E644X	E	-	1	0	ITGB6	160688599	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.148000	0.50647	2.756000	0.94617	0.561000	0.74099	GAA		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
ITGB6	3694	broad.mit.edu	37	2	161030579	161030579	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:161030579C>A	ENST00000283249.2	-	5	902	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ITGB6_ENST00000409967.2_Missense_Mutation_p.R222I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.R222I|ITGB6_ENST00000428609.2_Missense_Mutation_p.R180I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	222	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.R222I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTGAATCTTTCAGCATC	0.353																																					p.R222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665T	2						.						87.0	83.0	84.0					2																	161030579		2203	4300	6503	160738825	SO:0001583	missense	3694	exon5				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.665G>T	2.37:g.161030579C>A	ENSP00000283249:p.Arg222Ile	Somatic		Capture	Illumina HiSeq	Phase_I	160738825	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525854	0.44969	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.3	2.47	0.30058	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.193347	0.53938	D	0.000044	D	0.89294	0.6674	M	0.69823	2.125	0.58432	D	0.999999	B;B	0.33777	0.425;0.425	B;B	0.31016	0.123;0.123	D	0.86683	0.1918	10	0.54805	T	0.06	.	9.9365	0.41554	0.0:0.6511:0.0:0.3489	.	180;222	E9PEE8;P18564	.;ITB6_HUMAN	I	222;180;222;222	ENSP00000283249:R222I;ENSP00000408024:R180I;ENSP00000386828:R222I;ENSP00000386367:R222I	ENSP00000283249:R222I	R	-	2	0	ITGB6	160738825	0.700000	0.27796	1.000000	0.80357	0.960000	0.62799	-0.031000	0.12287	0.729000	0.32403	0.491000	0.48974	AGA		0.353	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
ITGB6	3694	broad.mit.edu	37	2	161052046	161052046	+	Missense_Mutation	SNP	C	C	T	rs140015315		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:161052046C>T	ENST00000283249.2	-	4	664	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	ITGB6_ENST00000409967.2_Missense_Mutation_p.A143T|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.A143T|ITGB6_ENST00000428609.2_Missense_Mutation_p.A101T	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	143	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.A143T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCATGGAGGCGGAGAGGTCC	0.527																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	2						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	101.0		427	6.1	1.0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB6	NM_000888.3	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	143/789	161052046	2,13004	2203	4300	6503	160760292	SO:0001583	missense	3694	exon4				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.427G>A	2.37:g.161052046C>T	ENSP00000283249:p.Ala143Thr	Somatic		Capture	Illumina HiSeq	Phase_I	160760292	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423674	0.83559	2.27E-4	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	6.05	6.05	0.98169	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	M	0.74389	2.26	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74034	-0.3794	10	0.27082	T	0.32	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	101;143	E9PEE8;P18564	.;ITB6_HUMAN	T	143;101;143;143	ENSP00000283249:A143T;ENSP00000408024:A101T;ENSP00000386828:A143T;ENSP00000386367:A143T	ENSP00000283249:A143T	A	-	1	0	ITGB6	160760292	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	5.974000	0.70465	2.878000	0.98634	0.650000	0.86243	GCC		0.527	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
RBMS1	5937	broad.mit.edu	37	2	161143587	161143587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:161143587C>A	ENST00000348849.3	-	7	1079	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Nonsense_Mutation_p.E217*|RBMS1_ENST00000409972.1_Nonsense_Mutation_p.E184*|RBMS1_ENST00000409075.1_Nonsense_Mutation_p.E184*|RBMS1_ENST00000409289.2_Nonsense_Mutation_p.E184*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	217	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E217*(1)	PLA2R1/RBMS1(2)								AATAAAGGTTCTGTGGGGGCT	0.378																																					p.E217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G649T	2						.						166.0	169.0	168.0					2																	161143587		2203	4300	6503	160851833	SO:0001587	stop_gained	5937	exon7			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.649G>T	2.37:g.161143587C>A	ENSP00000294904:p.Glu217*	Somatic		Capture	Illumina HiSeq	Phase_I	160851833	NM_016836	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Nonsense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	C	37	6.117367	0.97296	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	217;184;184;217;184	.	ENSP00000294904:E217X	E	-	1	0	RBMS1	160851833	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	GAA		0.378	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836	
TBR1	10716	broad.mit.edu	37	2	162273304	162273304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:162273304G>A	ENST00000389554.3	+	1	700	c.383G>A	c.(382-384)gGc>gAc	p.G128D	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	128					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G128D(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGTACCCCGGCCAGCACGGA	0.652																																					p.G128D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	2						.						91.0	100.0	97.0					2																	162273304		2203	4300	6503	161981550	SO:0001583	missense	10716	exon1			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.383G>A	2.37:g.162273304G>A	ENSP00000374205:p.Gly128Asp	Somatic		Capture	Illumina HiSeq	Phase_I	161981550	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094895	0.36952	.	.	ENSG00000136535	ENST00000389554	D	0.87412	-2.25	5.24	5.24	0.73138	.	0.669254	0.15522	N	0.258011	T	0.80954	0.4723	N	0.24115	0.695	0.80722	D	1	B	0.31318	0.319	B	0.27608	0.081	T	0.79878	-0.1617	10	0.62326	D	0.03	.	17.552	0.87879	0.0:0.0:1.0:0.0	.	128	Q16650	TBR1_HUMAN	D	128	ENSP00000374205:G128D	ENSP00000374205:G128D	G	+	2	0	TBR1	161981550	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.728000	0.84847	2.723000	0.93209	0.655000	0.94253	GGC		0.652	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
SLC4A10	57282	broad.mit.edu	37	2	162761335	162761335	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:162761335C>T	ENST00000446997.1	+	14	1760	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SLC4A10_ENST00000272716.5_Missense_Mutation_p.S526F|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S537F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S526F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S556F|SLC4A10_ENST00000535165.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	556					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.S526F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ATAGCCTATTCTCTCTTTGGT	0.393																																					p.S537F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1610T	2						.						201.0	189.0	193.0					2																	162761335		1920	4175	6095	162469581	SO:0001583	missense	57282	exon14				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1667C>T	2.37:g.162761335C>T	ENSP00000393066:p.Ser556Phe	Somatic		Capture	Illumina HiSeq	Phase_I	162469581	NM_001178016	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071244	0.93950	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.56	5.56	0.83823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.99	D	0.92584	0.6077	10	0.66056	D	0.02	.	19.531	0.95230	0.0:1.0:0.0:0.0	.	537;526;556	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	F	537;526;526;525;556;556;555	ENSP00000364664:S537F;ENSP00000395797:S526F;ENSP00000272716:S526F;ENSP00000393066:S556F;ENSP00000404486:S556F	ENSP00000272716:S526F	S	+	2	0	SLC4A10	162469581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.614000	0.88457	0.557000	0.71058	TCT		0.393	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
PXDN	7837	broad.mit.edu	37	2	1648500	1648500	+	Silent	SNP	G	G	A	rs565581245		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:1648500G>A	ENST00000252804.4	-	18	3683	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1211					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I1211I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498																																					p.I1211I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3633T	2						.						22.0	27.0	25.0					2																	1648500		1894	4123	6017	1627507	SO:0001819	synonymous_variant	7837	exon18			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3633C>T	2.37:g.1648500G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1627507	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.498	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
SLC4A10	57282	broad.mit.edu	37	2	162815047	162815047	+	Silent	SNP	A	A	G	rs550348345		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:162815047A>G	ENST00000446997.1	+	21	2937	c.2844A>G	c.(2842-2844)tcA>tcG	p.S948S	SLC4A10_ENST00000272716.5_Silent_p.S918S|SLC4A10_ENST00000375514.5_Silent_p.S929S|SLC4A10_ENST00000415876.2_Silent_p.S918S|SLC4A10_ENST00000421911.1_Silent_p.S948S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	948					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.S918S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGGGTGCTTCATCTCTAAAGG	0.368																																					p.S929S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2787G	2						.						153.0	136.0	142.0					2																	162815047		1859	4112	5971	162523293	SO:0001819	synonymous_variant	57282	exon21				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2844A>G	2.37:g.162815047A>G		Somatic		Capture	Illumina HiSeq	Phase_I	162523293	NM_001178016	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
IFIH1	64135	broad.mit.edu	37	2	163134117	163134117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:163134117G>A	ENST00000263642.2	-	10	2247	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	618					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R618*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCTATCATTCGAATTGTGTCA	0.358																																					p.R618X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C1852T	2						.						133.0	123.0	126.0					2																	163134117		2203	4299	6502	162842363	SO:0001587	stop_gained	64135	exon10			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1852C>T	2.37:g.163134117G>A	ENSP00000263642:p.Arg618*	Somatic		Capture	Illumina HiSeq	Phase_I	162842363	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Nonsense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	41	9.152538	0.99082	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	.	.	.	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8894	15.9347	0.79694	0.0:0.0:0.8637:0.1363	.	.	.	.	X	618	.	ENSP00000263642:R618X	R	-	1	2	IFIH1	162842363	1.000000	0.71417	0.995000	0.50966	0.731000	0.41821	4.555000	0.60767	1.365000	0.46057	0.563000	0.77884	CGA		0.358	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
KCNH7	90134	broad.mit.edu	37	2	163291907	163291907	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:163291907G>A	ENST00000332142.5	-	8	1854	c.1755C>T	c.(1753-1755)atC>atT	p.I585I	KCNH7_ENST00000328032.4_Silent_p.I578I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	585					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.I585I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCAACCATCCGATTTTGTCAG	0.433																																					p.I578I	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1734T	2						.						179.0	162.0	168.0					2																	163291907		2203	4300	6503	163000153	SO:0001819	synonymous_variant	90134	exon7			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1755C>T	2.37:g.163291907G>A		Somatic		Capture	Illumina HiSeq	Phase_I	163000153	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
FIGN	55137	broad.mit.edu	37	2	164466925	164466925	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:164466925T>G	ENST00000333129.3	-	3	1731	c.1417A>C	c.(1417-1419)Acc>Ccc	p.T473P	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	473					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.T473P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATCTCATTGGTTACCAGGTCG	0.517																																					p.T473P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1417C	2						.						135.0	128.0	130.0					2																	164466925		2082	4220	6302	164175171	SO:0001583	missense	55137	exon3			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1417A>C	2.37:g.164466925T>G	ENSP00000333836:p.Thr473Pro	Somatic		Capture	Illumina HiSeq	Phase_I	164175171	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751110	0.49257	.	.	ENSG00000182263	ENST00000333129	D	0.92299	-3.01	5.9	5.9	0.94986	.	0.049215	0.85682	D	0.000000	D	0.92270	0.7548	M	0.64567	1.98	0.80722	D	1	D	0.54207	0.965	P	0.48488	0.579	D	0.90835	0.4719	10	0.26408	T	0.33	-23.8144	16.3245	0.82970	0.0:0.0:0.0:1.0	.	473	Q5HY92	FIGN_HUMAN	P	473	ENSP00000333836:T473P	ENSP00000333836:T473P	T	-	1	0	FIGN	164175171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.254000	0.74563	0.460000	0.39030	ACC		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
PXDN	7837	broad.mit.edu	37	2	1667423	1667423	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:1667423G>T	ENST00000252804.4	-	12	1571	c.1521C>A	c.(1519-1521)atC>atA	p.I507I	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	507	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I507I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGAGCCGATGATGTTGACAG	0.577																																					p.I507I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1521A	2						.						90.0	98.0	95.0					2																	1667423		2046	4176	6222	1646430	SO:0001819	synonymous_variant	7837	exon12			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1521C>A	2.37:g.1667423G>T		Somatic		Capture	Illumina HiSeq	Phase_I	1646430	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114213	0.20795	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-53.622	9.1741	0.37100	0.0727:0.0:0.7809:0.1464	.	.	.	.	X	503	.	.	S	-	2	0	PXDN	1646430	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	0.658000	0.24979	2.735000	0.93741	0.655000	0.94253	TCA		0.577	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
FIGN	55137	broad.mit.edu	37	2	164467864	164467864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:164467864C>A	ENST00000333129.3	-	3	792	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	160					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.E160*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAACTAGGTTCTGTCAGGTTG	0.517																																					p.E160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G478T	2						.						81.0	79.0	80.0					2																	164467864		1961	4153	6114	164176110	SO:0001587	stop_gained	55137	exon3			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.478G>T	2.37:g.164467864C>A	ENSP00000333836:p.Glu160*	Somatic		Capture	Illumina HiSeq	Phase_I	164176110	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044400	0.93685	.	.	ENSG00000182263	ENST00000333129	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-8.4279	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000333836:E160X	E	-	1	0	FIGN	164176110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAA		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
COBLL1	22837	broad.mit.edu	37	2	165561522	165561522	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:165561522C>T	ENST00000392717.2	-	8	1208	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	COBLL1_ENST00000375458.2_Missense_Mutation_p.A364T|COBLL1_ENST00000194871.6_Missense_Mutation_p.A430T|COBLL1_ENST00000409184.3_Missense_Mutation_p.A402T|COBLL1_ENST00000342193.4_Missense_Mutation_p.A364T|COBLL1_ENST00000491126.2_5'UTR			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	402						extracellular vesicular exosome (GO:0070062)		p.A364T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGGGAAGGTGCTTTTCGCTTT	0.458																																					p.A364T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	2						.						161.0	153.0	156.0					2																	165561522		2203	4300	6503	165269768	SO:0001583	missense	22837	exon7			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1204G>A	2.37:g.165561522C>T	ENSP00000376478:p.Ala402Thr	Somatic		Capture	Illumina HiSeq	Phase_I	165269768	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.380678	0.95945	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.44	5.44	0.79542	Cordon-bleu domain (1);	0.197155	0.43579	D	0.000550	T	0.77994	0.4214	M	0.62723	1.935	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.977	T	0.78102	-0.2335	9	0.56958	D	0.05	-20.3099	19.2105	0.93753	0.0:1.0:0.0:0.0	.	402;430;402	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	T	364;364;402;402;430	.	ENSP00000194871:A430T	A	-	1	0	COBLL1	165269768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.175000	0.65021	2.712000	0.92718	0.585000	0.79938	GCA		0.458	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SLC38A11	151258	broad.mit.edu	37	2	165755096	165755096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:165755096C>T	ENST00000409149.3	-	11	1363	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V389I|SLC38A11_ENST00000409662.1_Missense_Mutation_p.V358I|SLC38A11_ENST00000303735.4_Missense_Mutation_p.V336I	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	358					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V336I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATAGCCATGACGAATCCAAAA	0.428																																					p.V336I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	2						.						125.0	110.0	115.0					2																	165755096		2203	4300	6503	165463342	SO:0001583	missense	151258	exon10				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1072G>A	2.37:g.165755096C>T	ENSP00000386272:p.Val358Ile	Somatic		Capture	Illumina HiSeq	Phase_I	165463342	NM_173512	B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761176	0.15914	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02103	4.45;4.45;4.45;4.45	5.42	2.52	0.30459	.	0.424174	0.27886	N	0.017449	T	0.01320	0.0043	N	0.11427	0.14	0.26709	N	0.971009	B;B	0.13594	0.008;0.006	B;B	0.13407	0.009;0.005	T	0.48658	-0.9016	10	0.14656	T	0.56	-4.5426	7.6903	0.28565	0.0:0.6532:0.0:0.3468	.	358;336	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	I	336;358;389;358	ENSP00000306178:V336I;ENSP00000386272:V358I;ENSP00000387345:V389I;ENSP00000386774:V358I	ENSP00000306178:V336I	V	-	1	0	SLC38A11	165463342	0.202000	0.23423	0.977000	0.42913	0.954000	0.61252	-0.421000	0.07053	0.604000	0.29930	0.462000	0.41574	GTC		0.428	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	
SCN3A	6328	broad.mit.edu	37	2	165997322	165997322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:165997322G>A	ENST00000360093.3	-	13	2349	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R620*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R620*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	620					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R620*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTTGCGTCGCTCTCCATGT	0.493																																					p.R620X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1858T	2						.						246.0	178.0	201.0					2																	165997322		2203	4300	6503	165705568	SO:0001587	stop_gained	6328	exon13			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1858C>T	2.37:g.165997322G>A	ENSP00000353206:p.Arg620*	Somatic		Capture	Illumina HiSeq	Phase_I	165705568	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	44	10.799765	0.99470	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	6.07	5.19	0.71726	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7189	0.62714	0.0:0.0:0.5866:0.4134	.	.	.	.	X	620	.	ENSP00000283254:R620X	R	-	1	2	SCN3A	165705568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.100000	0.41777	1.552000	0.49463	0.655000	0.94253	CGA		0.493	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN2A	6326	broad.mit.edu	37	2	166166894	166166894	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166166894C>A	ENST00000375437.2	+	7	1049	c.759C>A	c.(757-759)atC>atA	p.I253I	SCN2A_ENST00000375427.2_Silent_p.I253I|SCN2A_ENST00000283256.6_Silent_p.I253I|SCN2A_ENST00000357398.3_Silent_p.I253I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	253					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I253I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCATGATCTTGACTGTGT	0.423																																					p.I253I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C759A	2						.						235.0	227.0	230.0					2																	166166894		2203	4300	6503	165875140	SO:0001819	synonymous_variant	6326	exon6			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.759C>A	2.37:g.166166894C>A		Somatic		Capture	Illumina HiSeq	Phase_I	165875140	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.423	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166183391	166183391	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166183391G>T	ENST00000375437.2	+	13	2336	c.2046G>T	c.(2044-2046)aaG>aaT	p.K682N	SCN2A_ENST00000375427.2_Missense_Mutation_p.K682N|SCN2A_ENST00000283256.6_Missense_Mutation_p.K682N|SCN2A_ENST00000357398.3_Missense_Mutation_p.K682N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	682					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K682N(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATAAGAAAGAGACGGTCCA	0.383																																					p.K682N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2046T	2						.						163.0	159.0	161.0					2																	166183391		2203	4300	6503	165891637	SO:0001583	missense	6326	exon12			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2046G>T	2.37:g.166183391G>T	ENSP00000364586:p.Lys682Asn	Somatic		Capture	Illumina HiSeq	Phase_I	165891637	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602102	0.66445	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.8	4.01	0.46588	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000005	D	0.94159	0.8126	M	0.88704	2.975	0.43852	D	0.996445	B;P	0.38597	0.033;0.639	B;P	0.52481	0.07;0.7	D	0.93125	0.6528	10	0.59425	D	0.04	.	8.9675	0.35885	0.3309:0.0:0.6691:0.0	.	682;682	Q99250-2;Q99250	.;SCN2A_HUMAN	N	682	ENSP00000364586:K682N;ENSP00000349973:K682N;ENSP00000283256:K682N;ENSP00000364576:K682N	ENSP00000283256:K682N	K	+	3	2	SCN2A	165891637	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.204000	0.32296	0.802000	0.34089	0.650000	0.86243	AAG		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166201317	166201317	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166201317C>T	ENST00000375437.2	+	16	3105	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	SCN2A_ENST00000375427.2_Silent_p.L939L|SCN2A_ENST00000283256.6_Silent_p.L939L|SCN2A_ENST00000357398.3_Silent_p.L939L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	939					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L939L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCCGCGTGCTGTGTGGAGA	0.488																																					p.L939L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2815T	2						.						251.0	218.0	229.0					2																	166201317		2203	4300	6503	165909563	SO:0001819	synonymous_variant	6326	exon15			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2815C>T	2.37:g.166201317C>T		Somatic		Capture	Illumina HiSeq	Phase_I	165909563	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.488	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166243300	166243300	+	Silent	SNP	C	C	A	rs371690453		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166243300C>A	ENST00000375437.2	+	26	4886	c.4596C>A	c.(4594-4596)gtC>gtA	p.V1532V	SCN2A_ENST00000375427.2_Silent_p.V1532V|SCN2A_ENST00000283256.6_Silent_p.V1532V|SCN2A_ENST00000357398.3_Silent_p.V1532V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1532					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1532V(4)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAAACAAGTCTTTGATATCA	0.353																																					p.V1532V												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.C4596A	2						.	C	,,	0,4406		0,0,2203	125.0	113.0	117.0		4596,4596,4596	3.3	1.0	2		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,	1532/2006,1532/2006,1532/2006	166243300	1,13005	2203	4300	6503	165951546	SO:0001819	synonymous_variant	6326	exon25			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4596C>A	2.37:g.166243300C>A		Somatic		Capture	Illumina HiSeq	Phase_I	165951546	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.353	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
GALNT3	2591	broad.mit.edu	37	2	166605291	166605291	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166605291T>G	ENST00000392701.3	-	11	2677	c.1902A>C	c.(1900-1902)taA>taC	p.*634Y	GALNT3_ENST00000409882.1_Nonstop_Mutation_p.*372Y	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	0					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.*634Y(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TAAGGAACACTTAATCATTTT	0.333																																					p.X634Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1902C	2						.						59.0	58.0	59.0					2																	166605291		2203	4297	6500	166313537	SO:0001578	stop_lost	2591	exon11				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1902A>C	2.37:g.166605291T>G		Somatic		Capture	Illumina HiSeq	Phase_I	166313537	NM_004482	Q53TG9|Q7Z476	Nonstop_Mutation	SNP	ENST00000392701.3	37	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860697	0.51482	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2605	0.82541	0.0:0.0:0.0:1.0	.	.	.	.	Y	634;372	.	.	X	-	3	2	GALNT3	166313537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.237000	0.73441	0.460000	0.39030	TAA		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	
TTC21B	79809	broad.mit.edu	37	2	166731281	166731281	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166731281G>A	ENST00000243344.7	-	29	4072	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	TTC21B_ENST00000536175.1_Missense_Mutation_p.A250V	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1312					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.A1312V(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCTTAAAGACGCACGGGCCTT	0.338																																					p.A1312V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3935T	2						.						70.0	69.0	70.0					2																	166731281		2203	4298	6501	166439527	SO:0001583	missense	79809	exon29			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3935C>T	2.37:g.166731281G>A	ENSP00000243344:p.Ala1312Val	Somatic		Capture	Illumina HiSeq	Phase_I	166439527	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186638	0.38609	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.65364	-0.15;0.06	5.61	4.7	0.59300	.	0.555420	0.19901	N	0.103516	T	0.58581	0.2132	M	0.69823	2.125	0.52501	D	0.999955	P	0.35307	0.494	B	0.30495	0.116	T	0.56805	-0.7918	10	0.28530	T	0.3	-1.7699	13.0871	0.59146	0.0815:0.0:0.9185:0.0	.	1312	Q7Z4L5	TT21B_HUMAN	V	250;1312	ENSP00000438692:A250V;ENSP00000243344:A1312V	ENSP00000243344:A1312V	A	-	2	0	TTC21B	166439527	0.807000	0.29009	0.348000	0.25681	0.679000	0.39708	3.091000	0.50199	1.295000	0.44724	0.650000	0.86243	GCG		0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
TTC21B	79809	broad.mit.edu	37	2	166747426	166747426	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166747426A>G	ENST00000243344.7	-	23	3160	c.3023T>C	c.(3022-3024)tTt>tCt	p.F1008S	TTC21B_ENST00000536175.1_5'Flank	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1008					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.F1008S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CATTGAGAAAAATCTTGGGAC	0.328																																					p.F1008S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3023C	2						.						62.0	67.0	65.0					2																	166747426		2203	4300	6503	166455672	SO:0001583	missense	79809	exon23			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3023T>C	2.37:g.166747426A>G	ENSP00000243344:p.Phe1008Ser	Somatic		Capture	Illumina HiSeq	Phase_I	166455672	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195585	0.78902	.	.	ENSG00000123607	ENST00000243344	T	0.51574	0.7	5.57	4.38	0.52667	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.092533	0.85682	D	0.000000	T	0.67850	0.2937	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.69654	-0.5087	10	0.49607	T	0.09	-15.8224	11.7456	0.51817	0.8678:0.0:0.0:0.1322	.	1008	Q7Z4L5	TT21B_HUMAN	S	1008	ENSP00000243344:F1008S	ENSP00000243344:F1008S	F	-	2	0	TTC21B	166455672	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.442000	0.80503	0.880000	0.35969	0.445000	0.29226	TTT		0.328	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
TTC21B	79809	broad.mit.edu	37	2	166802084	166802084	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166802084C>T	ENST00000243344.7	-	4	516	c.379G>A	c.(379-381)Gca>Aca	p.A127T	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	127					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.A127T(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TATTCCCTTGCTTTATCATGG	0.353																																					p.A127T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	2						.						93.0	90.0	91.0					2																	166802084		2203	4300	6503	166510330	SO:0001583	missense	79809	exon4			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.379G>A	2.37:g.166802084C>T	ENSP00000243344:p.Ala127Thr	Somatic		Capture	Illumina HiSeq	Phase_I	166510330	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789132	0.90367	.	.	ENSG00000123607	ENST00000243344	T	0.80994	-1.44	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	D	0.92182	0.5752	10	0.87932	D	0	-7.4657	19.367	0.94468	0.0:1.0:0.0:0.0	.	127;127	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	T	127	ENSP00000243344:A127T	ENSP00000243344:A127T	A	-	1	0	TTC21B	166510330	1.000000	0.71417	0.927000	0.36925	0.418000	0.31294	7.809000	0.86057	2.563000	0.86464	0.591000	0.81541	GCA		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
SCN1A	6323	broad.mit.edu	37	2	166892858	166892858	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166892858C>A	ENST00000303395.4	-	16	3128	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	SCN1A_ENST00000375405.3_Missense_Mutation_p.K1032N|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1015N|SCN1A_ENST00000423058.2_Missense_Mutation_p.K1043N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1043					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.K1032N(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCTAAAATCTTTTGTTTCC	0.313																																					p.K1032N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3096T	2						.						68.0	69.0	68.0					2																	166892858		2203	4297	6500	166601104	SO:0001583	missense	6323	exon16			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3129G>T	2.37:g.166892858C>A	ENSP00000303540:p.Lys1043Asn	Somatic		Capture	Illumina HiSeq	Phase_I	166601104	NM_006920	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805733	0.50421	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.44	4.56	0.56223	Sodium ion transport-associated (1);	0.145218	0.47093	D	0.000248	D	0.87418	0.6172	M	0.67569	2.06	0.34091	D	0.660678	P;P;D	0.55385	0.573;0.77;0.971	B;B;P	0.57009	0.294;0.419;0.811	D	0.89652	0.3870	10	0.46703	T	0.11	.	6.818	0.23841	0.0:0.6996:0.0:0.3004	.	1032;1015;1043	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1043;1043;1032;1015	ENSP00000407030:K1043N;ENSP00000303540:K1043N;ENSP00000364554:K1032N;ENSP00000386312:K1015N	ENSP00000303540:K1043N	K	-	3	2	SCN1A	166601104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.862000	0.39448	1.427000	0.47276	0.655000	0.94253	AAG		0.313	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166929911	166929911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166929911G>T	ENST00000303395.4	-	1	220	c.221C>A	c.(220-222)tCa>tAa	p.S74*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.S74*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.S74*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.S74*|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	74			S -> P (in GEFS+2; dbSNP:rs121917931). {ECO:0000269|PubMed:17561957}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S74*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGGCTCTGACACCATCTC	0.428																																					p.S74X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C221A	2						.						161.0	153.0	156.0					2																	166929911		2203	4300	6503	166638157	SO:0001587	stop_gained	6323	exon1			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.221C>A	2.37:g.166929911G>T	ENSP00000303540:p.Ser74*	Somatic		Capture	Illumina HiSeq	Phase_I	166638157	NM_006920	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126403	0.94429	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.51	5.51	0.81932	.	0.129683	0.35207	N	0.003380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7532	0.91823	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	ENSP00000303540:S74X	S	-	2	0	SCN1A	166638157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.792000	0.99085	2.750000	0.94351	0.655000	0.94253	TCA		0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN9A	6335	broad.mit.edu	37	2	167089905	167089905	+	Missense_Mutation	SNP	C	C	T	rs368396027		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:167089905C>T	ENST00000409435.1	-	20	3868	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1291Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1291Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1279Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1290					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1279Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCAGTGTCCGAAGGGATTT	0.343																																					p.R1279Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3836A	2						.						47.0	47.0	47.0					2																	167089905		1911	4183	6094	166798151	SO:0001583	missense	6335	exon21			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3869G>A	2.37:g.167089905C>T	ENSP00000386330:p.Arg1290Gln	Somatic		Capture	Illumina HiSeq	Phase_I	166798151	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849411	0.97023	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000019	D	0.99648	0.9870	H	0.99752	4.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97306	0.9934	10	0.87932	D	0	.	20.1195	0.97955	0.0:1.0:0.0:0.0	.	1279	E7EUN6	.	Q	1279;1291;1291;1290	ENSP00000386306:R1279Q;ENSP00000364536:R1291Q;ENSP00000304748:R1291Q;ENSP00000386330:R1290Q	ENSP00000304748:R1291Q	R	-	2	0	SCN9A	166798151	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.759000	0.94783	0.650000	0.86243	CGG		0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167142906	167142906	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:167142906G>A	ENST00000409435.1	-	10	1541	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	SCN9A_ENST00000375387.4_Silent_p.F515F|SCN9A_ENST00000303354.6_Silent_p.F515F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.F514F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	514					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.F514F(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACCAAGGTGGAAACTTTTTC	0.453																																					p.F514F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1542T	2						.						227.0	215.0	219.0					2																	167142906		1925	4130	6055	166851152	SO:0001819	synonymous_variant	6335	exon11			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1542C>T	2.37:g.167142906G>A		Somatic		Capture	Illumina HiSeq	Phase_I	166851152	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.453	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN7A	6332	broad.mit.edu	37	2	167289076	167289076	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:167289076T>G	ENST00000409855.1	-	15	2470	c.2344A>C	c.(2344-2346)Aat>Cat	p.N782H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	782					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N782H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TATACCTCATTTACATGGTCC	0.358																																					p.N782H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2344C	2						.						195.0	183.0	187.0					2																	167289076		1837	4089	5926	166997322	SO:0001583	missense	6332	exon15			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2344A>C	2.37:g.167289076T>G	ENSP00000386796:p.Asn782His	Somatic		Capture	Illumina HiSeq	Phase_I	166997322	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527709	0.44969	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.83419	-1.72;-1.72	5.38	2.97	0.34412	Sodium ion transport-associated (1);	0.761042	0.12298	N	0.481353	D	0.83193	0.5201	L	0.40543	1.245	0.09310	N	1	D	0.65815	0.995	D	0.64237	0.923	T	0.69209	-0.5205	10	0.38643	T	0.18	.	4.2888	0.10867	0.1822:0.0932:0.0:0.7246	.	782	Q01118	SCN7A_HUMAN	H	782	ENSP00000386796:N782H;ENSP00000413699:N782H	ENSP00000259060:N782H	N	-	1	0	SCN7A	166997322	0.018000	0.18449	0.001000	0.08648	0.900000	0.52787	1.387000	0.34430	0.468000	0.27243	0.379000	0.24179	AAT		0.358	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
SCN7A	6332	broad.mit.edu	37	2	167334082	167334082	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:167334082G>T	ENST00000409855.1	-	2	251	c.125C>A	c.(124-126)cCt>cAt	p.P42H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	42					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P42H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTCCAAATCAGGAGTTGGCTT	0.383																																					p.P42H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125A	2						.						63.0	59.0	60.0					2																	167334082		1832	4078	5910	167042328	SO:0001583	missense	6332	exon2			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.125C>A	2.37:g.167334082G>T	ENSP00000386796:p.Pro42His	Somatic		Capture	Illumina HiSeq	Phase_I	167042328	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.212902	0.01555	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98090	-4.09;-4.1;-4.71	4.63	-4.56	0.03431	.	2.784810	0.01151	N	0.006414	D	0.95153	0.8429	L	0.51422	1.61	0.09310	N	1	B	0.30709	0.291	B	0.31191	0.125	D	0.89321	0.3640	10	0.34782	T	0.22	.	7.138	0.25539	0.1551:0.5316:0.2249:0.0884	.	42	Q01118	SCN7A_HUMAN	H	42	ENSP00000386796:P42H;ENSP00000413699:P42H;ENSP00000403846:P42H	ENSP00000259060:P42H	P	-	2	0	SCN7A	167042328	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.705000	0.05052	-0.667000	0.05303	-0.165000	0.13383	CCT		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	167760159	167760159	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:167760159C>A	ENST00000409728.1	+	2	256	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	XIRP2_ENST00000420519.1_Missense_Mutation_p.S56Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.S56Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S56Y|XIRP2_ENST00000409195.1_Missense_Mutation_p.S56Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.S56Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S56Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCACCTCAATCTTTGGATCCC	0.493																																					p.S56Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C167A	2						.						75.0	74.0	75.0					2																	167760159		1952	4133	6085	167468405	SO:0001583	missense	129446	exon2			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.167C>A	2.37:g.167760159C>A	ENSP00000386619:p.Ser56Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	167468405	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579229	0.28180	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77620	-1.1;-1.11;4.23;-1.1;-1.11;4.23	5.36	1.36	0.22044	.	.	.	.	.	T	0.68109	0.2965	.	.	.	0.09310	N	1	B;B	0.27765	0.188;0.188	B;B	0.30401	0.115;0.115	T	0.59075	-0.7522	8	0.56958	D	0.05	-1.1174	7.2739	0.26273	0.0:0.5988:0.0:0.4012	.	56;56	A4UGR9-4;A4UGR9-6	.;.	Y	56	ENSP00000386454:S56Y;ENSP00000386619:S56Y;ENSP00000386840:S56Y;ENSP00000386724:S56Y;ENSP00000415541:S56Y;ENSP00000295237:S56Y	ENSP00000295237:S56Y	S	+	2	0	XIRP2	167468405	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.294000	0.19047	0.210000	0.20664	0.655000	0.94253	TCT		0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168099144	168099144	+	Silent	SNP	C	C	T	rs201745859		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168099144C>T	ENST00000409195.1	+	9	1331	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	XIRP2_ENST00000409273.1_Silent_p.C192C|XIRP2_ENST00000295237.9_Silent_p.C414C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	239					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.C414C(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCACTTCTTGCGTTTCAACCA	0.398																																					p.C192C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	2						.	C	,,,,	3,3861		0,3,1929	118.0	109.0	112.0		,,576,,1242	-2.5	0.0	2		112	0,8260		0,0,4130	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,3,6059	TT,TC,CC		0.0,0.0776,0.0247	,,,,	,,192/3328,,414/3550	168099144	3,12121	1932	4130	6062	167807390	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1242C>T	2.37:g.168099144C>T		Somatic		Capture	Illumina HiSeq	Phase_I	167807390	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168100145	168100145	+	Missense_Mutation	SNP	C	C	T	rs199841320		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168100145C>T	ENST00000409195.1	+	9	2332	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	XIRP2_ENST00000409273.1_Missense_Mutation_p.S526L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S748L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	573					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S748L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGATGGTTCGGGCCAAATG	0.383																																					p.S526L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1577T	2						.						63.0	59.0	60.0					2																	168100145		1852	4085	5937	167808391	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2243C>T	2.37:g.168100145C>T	ENSP00000386840:p.Ser748Leu	Somatic		Capture	Illumina HiSeq	Phase_I	167808391	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.355	0.065301	0.08388	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02763	4.18;4.18;4.17	5.92	-1.21	0.09524	.	0.446155	0.23077	N	0.052198	T	0.02230	0.0069	N	0.20986	0.625	0.09310	N	0.999992	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.41662	-0.9496	10	0.36615	T	0.2	0.1772	11.4269	0.50015	0.0:0.4813:0.0:0.5187	.	573;573;526	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	748;748;526	ENSP00000386840:S748L;ENSP00000295237:S748L;ENSP00000387255:S526L	ENSP00000295237:S748L	S	+	2	0	XIRP2	167808391	0.073000	0.21202	0.039000	0.18376	0.825000	0.46686	0.444000	0.21661	-0.422000	0.07405	-0.312000	0.09012	TCG		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168105802	168105802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168105802C>T	ENST00000409195.1	+	9	7989	c.7900C>T	c.(7900-7902)Cca>Tca	p.P2634S	XIRP2_ENST00000409273.1_Missense_Mutation_p.P2412S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2634S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2459					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P2634S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACAACATCGCCAGAAACAGT	0.438																																					p.P2412S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7234T	2						.						72.0	71.0	72.0					2																	168105802		1924	4138	6062	167814048	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7900C>T	2.37:g.168105802C>T	ENSP00000386840:p.Pro2634Ser	Somatic		Capture	Illumina HiSeq	Phase_I	167814048	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	2.885	-0.230978	0.05983	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02197	4.4;4.4;4.4	6.07	-4.24	0.03777	.	1.190400	0.05753	N	0.603455	T	0.01558	0.0050	L	0.36672	1.1	0.09310	N	1	B;B;B	0.25904	0.085;0.137;0.006	B;B;B	0.25140	0.026;0.058;0.005	T	0.47018	-0.9149	10	0.06099	T	0.92	-0.358	2.0108	0.03487	0.2648:0.3957:0.1488:0.1907	.	2459;2459;2412	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2634;2634;2412;48	ENSP00000386840:P2634S;ENSP00000295237:P2634S;ENSP00000387255:P2412S	ENSP00000295237:P2634S	P	+	1	0	XIRP2	167814048	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.341000	0.07811	-1.000000	0.03438	-0.910000	0.02820	CCA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106476	168106476	+	Silent	SNP	C	C	T	rs375723185		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168106476C>T	ENST00000409195.1	+	9	8663	c.8574C>T	c.(8572-8574)atC>atT	p.I2858I	XIRP2_ENST00000409273.1_Silent_p.I2636I|XIRP2_ENST00000295237.9_Silent_p.I2858I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2683					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I2858I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGGTTATCGATGCACATC	0.363																																					p.I2636I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7908T	2						.	C	,,,,	1,3773		0,1,1886	118.0	115.0	116.0		,,7908,,8574	-2.3	0.0	2		116	0,8220		0,0,4110	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,1,5996	TT,TC,CC		0.0,0.0265,0.0083	,,,,	,,2636/3328,,2858/3550	168106476	1,11993	1887	4110	5997	167814722	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8574C>T	2.37:g.168106476C>T		Somatic		Capture	Illumina HiSeq	Phase_I	167814722	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168108197	168108197	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168108197C>T	ENST00000409195.1	+	9	10384	c.10295C>T	c.(10294-10296)tCg>tTg	p.S3432L	XIRP2_ENST00000409273.1_Missense_Mutation_p.S3210L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3432L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S3432L(1)|p.S3432*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTGTTGAGTCGAAGATGAAA	0.453																																					p.S3210L												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C9629T	2						.						68.0	68.0	68.0					2																	168108197		1901	4118	6019	167816443	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10295C>T	2.37:g.168108197C>T	ENSP00000386840:p.Ser3432Leu	Somatic		Capture	Illumina HiSeq	Phase_I	167816443	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462566	0.43736	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03004	4.08;4.08;4.08	6.16	5.28	0.74379	.	0.222293	0.39909	N	0.001222	T	0.14527	0.0351	M	0.68952	2.095	0.19300	N	0.999978	D;D;D	0.76494	0.997;0.999;0.973	P;P;P	0.59825	0.734;0.864;0.579	T	0.01909	-1.1249	10	0.87932	D	0	-0.0752	16.483	0.84163	0.0:0.8686:0.1314:0.0	.	3257;3257;3210	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	3432;3432;3210;846	ENSP00000386840:S3432L;ENSP00000295237:S3432L;ENSP00000387255:S3210L	ENSP00000295237:S3432L	S	+	2	0	XIRP2	167816443	1.000000	0.71417	0.007000	0.13788	0.241000	0.25554	3.619000	0.54196	1.600000	0.50102	0.650000	0.86243	TCG		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168114792	168114792	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168114792C>A	ENST00000409728.1	+	11	1924	c.1835C>A	c.(1834-1836)tCt>tAt	p.S612Y	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.S357Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.S579Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.S579Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.S612Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S612Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGTGAATCTCTGCTAGAA	0.398																																					p.S612Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1835A	2						.						91.0	90.0	90.0					2																	168114792		1857	4089	5946	167823038	SO:0001583	missense	129446	exon11			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1835C>A	2.37:g.168114792C>A	ENSP00000386619:p.Ser612Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	167823038	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	3'UTR	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539338	0.27475	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.79749	-1.28;-1.29;-1.28;-1.29;-1.3	6.06	3.14	0.36123	.	.	.	.	.	T	0.79741	0.4498	.	.	.	0.09310	N	1	D;D	0.59767	0.958;0.986	P;P	0.51135	0.66;0.66	T	0.68659	-0.5350	8	0.56958	D	0.05	.	6.3562	0.21402	0.2088:0.5962:0.0:0.195	.	579;612	A4UGR9-4;A4UGR9-6	.;.	Y	579;612;579;612;357	ENSP00000386454:S579Y;ENSP00000386619:S612Y;ENSP00000386724:S579Y;ENSP00000415541:S612Y;ENSP00000386981:S357Y	ENSP00000386454:S579Y	S	+	2	0	XIRP2	167823038	0.000000	0.05858	0.001000	0.08648	0.474000	0.32979	0.451000	0.21779	0.881000	0.35993	0.655000	0.94253	TCT		0.398	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115363	168115363	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168115363G>T	ENST00000409728.1	+	11	2495	c.2406G>T	c.(2404-2406)aaG>aaT	p.K802N	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.K547N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K769N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K769N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K802N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	91					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K802N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTGAAAAGACTTATTCGA	0.413																																					p.K802N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2406T	2						.						42.0	41.0	42.0					2																	168115363		1837	4089	5926	167823609	SO:0001583	missense	129446	exon11			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2406G>T	2.37:g.168115363G>T	ENSP00000386619:p.Lys802Asn	Somatic		Capture	Illumina HiSeq	Phase_I	167823609	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	3'UTR	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936689	0.34189	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80994	-1.41;-1.41;-1.41;-1.41;-1.44	5.67	4.8	0.61643	.	.	.	.	.	D	0.87309	0.6145	.	.	.	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.58873	0.787;0.847	D	0.88691	0.3209	8	0.87932	D	0	.	12.7213	0.57144	0.0759:0.0:0.9241:0.0	.	769;802	A4UGR9-4;A4UGR9-6	.;.	N	769;802;769;802;547	ENSP00000386454:K769N;ENSP00000386619:K802N;ENSP00000386724:K769N;ENSP00000415541:K802N;ENSP00000386981:K547N	ENSP00000386454:K769N	K	+	3	2	XIRP2	167823609	0.996000	0.38824	0.860000	0.33809	0.129000	0.20672	1.734000	0.38166	1.408000	0.46895	0.561000	0.74099	AAG		0.413	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
CERS6	253782	broad.mit.edu	37	2	169574389	169574389	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:169574389A>T	ENST00000305747.6	+	8	1333	c.746A>T	c.(745-747)aAa>aTa	p.K249I	CERS6_ENST00000392687.4_Missense_Mutation_p.K249I	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	249	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.K249I(1)									TAGGCTGCCAAAATGGCAAAT	0.338																																					p.K249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A746T	2						.						139.0	130.0	133.0					2																	169574389		2203	4300	6503	169282635	SO:0001583	missense	253782	exon8			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.746A>T	2.37:g.169574389A>T	ENSP00000306579:p.Lys249Ile	Somatic		Capture	Illumina HiSeq	Phase_I	169282635	NM_203463	Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566069	0.86439	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.88046	-2.33;-2.33	6.17	5.01	0.66863	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95867	0.8888	10	0.87932	D	0	-28.5851	12.0434	0.53466	0.8706:0.0:0.0:0.1294	.	249;249	Q32M63;Q6ZMG9	.;CERS6_HUMAN	I	249	ENSP00000306579:K249I;ENSP00000376453:K249I	ENSP00000306579:K249I	K	+	2	0	CERS6	169282635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.644000	0.91044	1.131000	0.42111	0.533000	0.62120	AAA		0.338	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463	
ABCB11	8647	broad.mit.edu	37	2	169787307	169787307	+	Silent	SNP	C	C	T	rs368393726		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:169787307C>T	ENST00000263817.6	-	25	3403	c.3279G>A	c.(3277-3279)tcG>tcA	p.S1093S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1093	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.S1093S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCAGAACTTGCGAGTCAGGTC	0.458																																					p.S1093S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3279A	2						.						74.0	71.0	72.0					2																	169787307		1999	4151	6150	169495553	SO:0001819	synonymous_variant	8647	exon25			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3279G>A	2.37:g.169787307C>T		Somatic		Capture	Illumina HiSeq	Phase_I	169495553	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																				0.458	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169814541	169814541	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:169814541G>T	ENST00000263817.6	-	19	2400	c.2276C>A	c.(2275-2277)tCt>tAt	p.S759Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	759	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.S759Y(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCACCCACAGACCCTACCAG	0.493																																					p.S759Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2276A	2						.						70.0	69.0	69.0					2																	169814541		1923	4135	6058	169522787	SO:0001583	missense	8647	exon19			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2276C>A	2.37:g.169814541G>T	ENSP00000263817:p.Ser759Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169522787	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392685	0.62066	.	.	ENSG00000073734	ENST00000263817	D	0.89415	-2.51	5.11	4.21	0.49690	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.802333	0.11884	N	0.520235	D	0.93631	0.7966	M	0.83223	2.63	0.24024	N	0.996138	P;P	0.51147	0.942;0.942	P;P	0.59546	0.819;0.859	D	0.86136	0.1578	10	0.26408	T	0.33	.	14.5843	0.68312	0.0:0.1478:0.8522:0.0	.	201;759	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	759	ENSP00000263817:S759Y	ENSP00000263817:S759Y	S	-	2	0	ABCB11	169522787	0.844000	0.29557	0.003000	0.11579	0.977000	0.68977	4.707000	0.61852	1.240000	0.43803	0.467000	0.42956	TCT		0.493	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169826721	169826721	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:169826721A>C	ENST00000263817.6	-	15	1767	c.1643T>G	c.(1642-1644)tTt>tGt	p.F548C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	548	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.F548C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AAGGGTGTCAAATTGCTAGAT	0.463																																					p.F548C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1643G	2	GRCh37	CM067624	ABCB11	M		.						66.0	65.0	65.0					2																	169826721		1995	4192	6187	169534967	SO:0001583	missense	8647	exon15			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1643T>G	2.37:g.169826721A>C	ENSP00000263817:p.Phe548Cys	Somatic		Capture	Illumina HiSeq	Phase_I	169534967	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311523	0.81358	.	.	ENSG00000073734	ENST00000263817	D	0.86164	-2.08	5.3	5.3	0.74995	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94081	0.7344	10	0.87932	D	0	.	15.2197	0.73303	1.0:0.0:0.0:0.0	.	548	O95342	ABCBB_HUMAN	C	548	ENSP00000263817:F548C	ENSP00000263817:F548C	F	-	2	0	ABCB11	169534967	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	TTT		0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169842646	169842646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:169842646C>A	ENST00000263817.6	-	10	1181	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	353	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.E353*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGTGTATATTCTCCTTCATCC	0.433																																					p.E353X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1057T	2						.						107.0	105.0	105.0					2																	169842646		1913	4134	6047	169550892	SO:0001587	stop_gained	8647	exon10			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1057G>T	2.37:g.169842646C>A	ENSP00000263817:p.Glu353*	Somatic		Capture	Illumina HiSeq	Phase_I	169550892	NM_003742	Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.776656	0.98483	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.52	5.52	0.82312	.	0.093520	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	.	.	.	X	353	.	ENSP00000263817:E353X	E	-	1	0	ABCB11	169550892	1.000000	0.71417	0.976000	0.42696	0.910000	0.53928	7.750000	0.85110	2.753000	0.94483	0.557000	0.71058	GAA		0.433	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
LRP2	4036	broad.mit.edu	37	2	170003385	170003385	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170003385G>A	ENST00000263816.3	-	69	12960	c.12675C>T	c.(12673-12675)ttC>ttT	p.F4225F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4225					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F4225F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAGGTCCTCGAAAACCAGGA	0.438																																					p.F4225F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12675T	2						.						105.0	86.0	93.0					2																	170003385		2203	4300	6503	169711631	SO:0001819	synonymous_variant	4036	exon69				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12675C>T	2.37:g.170003385G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169711631	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170044605	170044605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170044605C>T	ENST00000263816.3	-	49	9488	c.9203G>A	c.(9202-9204)tGc>tAc	p.C3068Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3068	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3068Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGGGTGTGGCACAGGTGCAT	0.502																																					p.C3068Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9203A	2						.						164.0	138.0	147.0					2																	170044605		2203	4300	6503	169752851	SO:0001583	missense	4036	exon49				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9203G>A	2.37:g.170044605C>T	ENSP00000263816:p.Cys3068Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169752851	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443035	0.63067	.	.	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	5.68	5.68	0.88126	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.93507	3.425	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97502	1.0061	10	0.59425	D	0.04	.	19.7861	0.96437	0.0:1.0:0.0:0.0	.	3068	P98164	LRP2_HUMAN	Y	3068	ENSP00000263816:C3068Y	ENSP00000263816:C3068Y	C	-	2	0	LRP2	169752851	1.000000	0.71417	0.929000	0.37066	0.055000	0.15305	7.625000	0.83145	2.677000	0.91161	0.650000	0.86243	TGC		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170048452	170048452	+	Silent	SNP	G	G	A	rs549070265		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170048452G>A	ENST00000263816.3	-	48	9207	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2974	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G2974G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATCCACATCGCCATCACAGA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		15992	0.001		0.0	False		,,,				2504	0.0				p.G2974G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8922T	2						.						98.0	91.0	93.0					2																	170048452		2203	4300	6503	169756698	SO:0001819	synonymous_variant	4036	exon48				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8922C>T	2.37:g.170048452G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169756698	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170060713	170060713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170060713G>T	ENST00000263816.3	-	42	8069	c.7784C>A	c.(7783-7785)gCt>gAt	p.A2595D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2595					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A2595D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAGCCAAAAGCATGAACGGC	0.428																																					p.A2595D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7784A	2						.						163.0	171.0	168.0					2																	170060713		2203	4300	6503	169768959	SO:0001583	missense	4036	exon42				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7784C>A	2.37:g.170060713G>T	ENSP00000263816:p.Ala2595Asp	Somatic		Capture	Illumina HiSeq	Phase_I	169768959	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914508	0.33815	.	.	ENSG00000081479	ENST00000263816	D	0.96136	-3.92	5.78	3.97	0.46021	Six-bladed beta-propeller, TolB-like (1);	0.224065	0.47455	D	0.000234	D	0.91019	0.7175	L	0.34521	1.04	0.80722	D	1	P	0.35124	0.485	B	0.31390	0.129	D	0.88943	0.3381	10	0.87932	D	0	.	11.6611	0.51347	0.0669:0.1247:0.8085:0.0	.	2595	P98164	LRP2_HUMAN	D	2595	ENSP00000263816:A2595D	ENSP00000263816:A2595D	A	-	2	0	LRP2	169768959	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	6.804000	0.75186	0.779000	0.33543	-0.882000	0.02950	GCT		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170094628	170094628	+	Silent	SNP	C	C	T	rs149473050		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170094628C>T	ENST00000263816.3	-	27	4764	c.4479G>A	c.(4477-4479)gcG>gcA	p.A1493A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1493					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1493A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATTTTGAAACGCACTCCAGG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		21910	0.0		0.0	False		,,,				2504	0.001				p.A1493A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4479A	2						.	C		0,4406		0,0,2203	124.0	103.0	110.0		4479	-9.0	0.9	2	dbSNP_134	110	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LRP2	NM_004525.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1493/4656	170094628	3,13003	2203	4300	6503	169802874	SO:0001819	synonymous_variant	4036	exon27				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4479G>A	2.37:g.170094628C>T		Somatic		Capture	Illumina HiSeq	Phase_I	169802874	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170097521	170097521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170097521C>A	ENST00000263816.3	-	25	4307	c.4022G>T	c.(4021-4023)gGg>gTg	p.G1341V	LRP2_ENST00000443831.1_Missense_Mutation_p.G1204V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1341	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G1341V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTCATCTGTCCCATTGGGGCA	0.488																																					p.G1341V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4022T	2						.						124.0	109.0	114.0					2																	170097521		2203	4300	6503	169805767	SO:0001583	missense	4036	exon25				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4022G>T	2.37:g.170097521C>A	ENSP00000263816:p.Gly1341Val	Somatic		Capture	Illumina HiSeq	Phase_I	169805767	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839747	0.91117	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96554	-3.04;-4.05	6.02	6.02	0.97574	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98971	1.0801	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1204;1341	E9PC35;P98164	.;LRP2_HUMAN	V	1341;1204	ENSP00000263816:G1341V;ENSP00000409813:G1204V	ENSP00000263816:G1341V	G	-	2	0	LRP2	169805767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.025000	0.70864	2.857000	0.98124	0.650000	0.86243	GGG		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170103350	170103350	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170103350T>G	ENST00000263816.3	-	21	3340	c.3055A>C	c.(3055-3057)Aat>Cat	p.N1019H	LRP2_ENST00000443831.1_Missense_Mutation_p.N882H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1019					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N1019H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTGGTTCATTGGTTGGGTCC	0.507																																					p.N1019H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3055C	2						.						133.0	121.0	125.0					2																	170103350		2203	4300	6503	169811596	SO:0001583	missense	4036	exon21				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3055A>C	2.37:g.170103350T>G	ENSP00000263816:p.Asn1019His	Somatic		Capture	Illumina HiSeq	Phase_I	169811596	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	1.128	-0.653232	0.03480	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.41758	0.99;0.99	6.03	-3.96	0.04106	.	0.822422	0.11443	N	0.563565	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.12837	0.008;0.004	T	0.16041	-1.0416	10	0.37606	T	0.19	.	6.7402	0.23431	0.067:0.1328:0.115:0.6852	.	882;1019	E9PC35;P98164	.;LRP2_HUMAN	H	1019;882	ENSP00000263816:N1019H;ENSP00000409813:N882H	ENSP00000263816:N1019H	N	-	1	0	LRP2	169811596	0.148000	0.22702	0.000000	0.03702	0.020000	0.10135	1.075000	0.30716	-0.786000	0.04516	-0.250000	0.11733	AAT		0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170129546	170129546	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170129546G>A	ENST00000263816.3	-	15	2292	c.2007C>T	c.(2005-2007)ggC>ggT	p.G669G	LRP2_ENST00000443831.1_Silent_p.G600G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	669	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> D (in dbSNP:rs34291900).		cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G669G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCTGCTCACAGCCCCCATTGT	0.453																																					p.G669G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2007T	2						.						140.0	133.0	135.0					2																	170129546		2203	4300	6503	169837792	SO:0001819	synonymous_variant	4036	exon15				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2007C>T	2.37:g.170129546G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169837792	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
FASTKD1	79675	broad.mit.edu	37	2	170387153	170387153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170387153C>T	ENST00000453153.2	-	14	2732	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	FASTKD1_ENST00000495505.1_5'UTR|FASTKD1_ENST00000453929.2_Missense_Mutation_p.G753R	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	796	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.G796R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCAGATTTTCCTTTCATGTGA	0.318																																					p.G796R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2386A	2						.						138.0	149.0	146.0					2																	170387153		2203	4300	6503	170095399	SO:0001583	missense	79675	exon14			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2386G>A	2.37:g.170387153C>T	ENSP00000400513:p.Gly796Arg	Somatic		Capture	Illumina HiSeq	Phase_I	170095399	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535275	0.85812	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.59638	0.25;0.47	5.34	5.34	0.76211	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86168	0.1598	10	0.87932	D	0	-22.8189	19.1147	0.93332	0.0:1.0:0.0:0.0	.	753;796	Q53R41-2;Q53R41	.;FAKD1_HUMAN	R	796;753	ENSP00000400513:G796R;ENSP00000403229:G753R	ENSP00000400513:G796R	G	-	1	0	FASTKD1	170095399	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.380000	0.79704	2.514000	0.84764	0.650000	0.86243	GGA		0.318	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
PPIG	9360	broad.mit.edu	37	2	170487452	170487452	+	Missense_Mutation	SNP	G	G	A	rs200547187		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170487452G>A	ENST00000260970.3	+	10	936	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17434	0.001		0.0	False		,,,				2504	0.0				p.R239Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G716A	2						.						29.0	33.0	31.0					2																	170487452		2153	4174	6327	170195698	SO:0001583	missense	9360	exon10			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.716G>A	2.37:g.170487452G>A	ENSP00000260970:p.Arg239Gln	Somatic		Capture	Illumina HiSeq	Phase_I	170195698	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.99	3.739031	0.69304	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.28895	2.24;1.81;2.22;1.59;2.24;1.93	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	T	0.14700	0.0355	N	0.19112	0.55	0.35323	D	0.784961	P;P;P;P;P	0.48640	0.913;0.645;0.645;0.487;0.645	B;B;B;B;B	0.30855	0.121;0.062;0.062;0.063;0.062	T	0.07083	-1.0791	10	0.23891	T	0.37	0.117	7.8993	0.29725	0.1941:0.0:0.8059:0.0	.	235;224;224;239;239	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	239;239;235;224;239;239;239	ENSP00000260970:R239Q;ENSP00000408683:R235Q;ENSP00000386245:R224Q;ENSP00000435987:R239Q;ENSP00000407083:R239Q;ENSP00000402222:R239Q	ENSP00000260970:R239Q	R	+	2	0	PPIG	170195698	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.228000	0.42981	2.683000	0.91414	0.655000	0.94253	CGA		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
PPIG	9360	broad.mit.edu	37	2	170493348	170493348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170493348G>A	ENST00000260970.3	+	14	1800	c.1580G>A	c.(1579-1581)aGt>aAt	p.S527N	PPIG_ENST00000409714.3_Missense_Mutation_p.S512N|PPIG_ENST00000448752.2_Missense_Mutation_p.S527N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	527					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.S527N(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAATCAAAGAGTAATGAGCAT	0.338																																					p.S527N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1580A	2						.						55.0	55.0	55.0					2																	170493348		2203	4300	6503	170201594	SO:0001583	missense	9360	exon14			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1580G>A	2.37:g.170493348G>A	ENSP00000260970:p.Ser527Asn	Somatic		Capture	Illumina HiSeq	Phase_I	170201594	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	6.837	0.523713	0.13066	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.17691	2.26;2.27;2.26	5.74	3.63	0.41609	.	0.211109	0.49305	N	0.000152	T	0.09158	0.0226	N	0.08118	0	0.32860	D	0.507852	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.12837	0.001;0.008;0.001	T	0.10291	-1.0636	10	0.24483	T	0.36	-14.9731	13.4613	0.61229	0.1481:0.0:0.8519:0.0	.	512;512;527	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	N	527;512;527	ENSP00000260970:S527N;ENSP00000386245:S512N;ENSP00000407083:S527N	ENSP00000260970:S527N	S	+	2	0	PPIG	170201594	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.930000	0.40124	1.434000	0.47414	0.655000	0.94253	AGT		0.338	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
CCDC173	129881	broad.mit.edu	37	2	170510656	170510656	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170510656C>A	ENST00000447353.1	-	6	993	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	296								p.K290N(1)									ATTTTCTCATCTTTTCATCTT	0.333																																					p.K296N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	2						.						117.0	101.0	106.0					2																	170510656		1814	4090	5904	170218902	SO:0001583	missense	129881	exon6			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.888G>T	2.37:g.170510656C>A	ENSP00000391504:p.Lys296Asn	Somatic		Capture	Illumina HiSeq	Phase_I	170218902	NM_001085447	Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622866	0.66901	.	.	ENSG00000154479	ENST00000447353	T	0.13657	2.57	4.95	3.81	0.43845	.	21.078700	0.00166	N	0.000000	T	0.39253	0.1071	M	0.71581	2.175	0.30028	N	0.813695	D	0.89917	1.0	D	0.91635	0.999	T	0.05767	-1.0865	10	0.45353	T	0.12	.	8.7177	0.34421	0.0:0.8527:0.0:0.1473	.	296	Q0VFZ6	CB077_HUMAN	N	296	ENSP00000391504:K296N	ENSP00000391504:K296N	K	-	3	2	C2orf77	170218902	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.438000	0.35002	2.450000	0.82876	0.585000	0.79938	AAG		0.333	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447	
CCDC173	129881	broad.mit.edu	37	2	170537632	170537632	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170537632T>G	ENST00000447353.1	-	2	284	c.179A>C	c.(178-180)gAt>gCt	p.D60A		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	60								p.D54A(1)									GTCAAGGCTATCTTGAATCCT	0.438																																					p.D60A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A179C	2						.						193.0	186.0	188.0					2																	170537632		1994	4167	6161	170245878	SO:0001583	missense	129881	exon2			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.179A>C	2.37:g.170537632T>G	ENSP00000391504:p.Asp60Ala	Somatic		Capture	Illumina HiSeq	Phase_I	170245878	NM_001085447	Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.931612	0.73442	.	.	ENSG00000154479	ENST00000447353;ENST00000419478	D	0.88586	-2.4	5.79	5.79	0.91817	.	0.677285	0.13300	U	0.398269	D	0.83885	0.5351	L	0.49640	1.575	0.29523	N	0.853349	B	0.31383	0.321	B	0.26770	0.073	T	0.77523	-0.2556	10	0.30078	T	0.28	.	8.2719	0.31849	0.0:0.1488:0.0:0.8512	.	60	Q0VFZ6	CB077_HUMAN	A	60;36	ENSP00000408143:D36A	ENSP00000408143:D36A	D	-	2	0	C2orf77	170245878	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.990000	0.40717	2.212000	0.71576	0.460000	0.39030	GAT		0.438	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447	
KLHL23	151230	broad.mit.edu	37	2	170592044	170592044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170592044G>T	ENST00000392647.2	+	2	764	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	KLHL23_ENST00000272797.4_Nonsense_Mutation_p.E174*|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	174	BACK.							p.E174*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCAACAAGAAGAATTTCTGGA	0.373																																					p.E174X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G520T	2						.						58.0	63.0	62.0					2																	170592044		2194	4298	6492	170300290	SO:0001587	stop_gained	151230	exon4			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.520G>T	2.37:g.170592044G>T	ENSP00000376419:p.Glu174*	Somatic		Capture	Illumina HiSeq	Phase_I	170300290	NM_001199290	Q8N9B9|Q96FT8	Nonsense_Mutation	SNP	ENST00000392647.2	37	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	40	7.935835	0.98571	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000272797:E174X	E	+	1	0	KLHL23	170300290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.738000	0.93877	0.655000	0.94253	GAA		0.373	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
METTL5	29081	broad.mit.edu	37	2	170677753	170677753	+	Silent	SNP	G	G	A	rs554782778	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170677753G>A	ENST00000260953.5	-	3	571	c.255C>T	c.(253-255)gaC>gaT	p.D85D	METTL5_ENST00000308099.3_Silent_p.D85D|METTL5_ENST00000409965.1_Silent_p.D85D|METTL5_ENST00000410097.1_Silent_p.D85D|METTL5_ENST00000392640.2_Silent_p.D85D|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000409837.1_Silent_p.D85D	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	85							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.D85D(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTTCCAATGCGTCTTCATCTA	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		16241	0.002		0.0	False		,,,				2504	0.0				p.D85D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C255T	2						.						96.0	95.0	95.0					2																	170677753		2203	4299	6502	170385999	SO:0001819	synonymous_variant	29081	exon3			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.255C>T	2.37:g.170677753G>A		Somatic		Capture	Illumina HiSeq	Phase_I	170385999	NM_014168	D3DPC9|Q9NVX1	Silent	SNP	ENST00000260953.5	37	CCDS33320.1																																																																																				0.333	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	
UBR3	130507	broad.mit.edu	37	2	170843165	170843165	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170843165G>T	ENST00000272793.5	+	25	3695	c.3645G>T	c.(3643-3645)gaG>gaT	p.E1215D	UBR3_ENST00000418381.1_Missense_Mutation_p.E1215D|UBR3_ENST00000392631.1_Missense_Mutation_p.E36D			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1215					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1215D(1)|p.E68D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTCTCCTGAGAATGATATTC	0.408																																					p.E1215D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3645T	2						.						76.0	72.0	73.0					2																	170843165		2203	4300	6503	170551411	SO:0001583	missense	130507	exon25			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3645G>T	2.37:g.170843165G>T	ENSP00000272793:p.Glu1215Asp	Somatic		Capture	Illumina HiSeq	Phase_I	170551411	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.251206|2.251206	0.39797|0.39797	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631|ENST00000392632	T;T;T|.	0.57752|.	0.38;0.38;0.87|.	5.46|5.46	2.21|2.21	0.28008|0.28008	.|.	0.210061|.	0.48767|.	D|.	0.000169|.	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.25144|0.25144	0.715|0.715	0.27574|0.27574	N|N	0.949806|0.949806	B;B;B|.	0.11235|.	0.0;0.004;0.001|.	B;B;B|.	0.13407|.	0.001;0.009;0.003|.	T|T	0.20075|0.20075	-1.0286|-1.0286	10|5	0.02654|.	T|.	1|.	.|.	3.3615|3.3615	0.07188|0.07188	0.3976:0.0:0.3718:0.2306|0.3976:0.0:0.3718:0.2306	.|.	1215;36;1215|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	D|I	1215;1215;1215;36|273	ENSP00000272793:E1215D;ENSP00000396068:E1215D;ENSP00000376408:E36D|.	ENSP00000272793:E1215D|.	E|R	+|+	3|2	2|0	UBR3|UBR3	170551411|170551411	0.559000|0.559000	0.26562|0.26562	0.980000|0.980000	0.43619|0.43619	0.977000|0.977000	0.68977|0.68977	-0.110000|-0.110000	0.10824|0.10824	0.654000|0.654000	0.30846|0.30846	0.585000|0.585000	0.79938|0.79938	GAG|AGA		0.408	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UBR3	130507	broad.mit.edu	37	2	170850952	170850952	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170850952C>T	ENST00000272793.5	+	26	3954	c.3904C>T	c.(3904-3906)Cgt>Tgt	p.R1302C	UBR3_ENST00000418381.1_Missense_Mutation_p.R1302C|UBR3_ENST00000392631.1_Missense_Mutation_p.R123C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1302					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R155C(1)|p.R1302C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTATTACAGCGTTATTTTAA	0.378																																					p.R1302C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3904T	2						.						147.0	143.0	144.0					2																	170850952		2203	4300	6503	170559198	SO:0001583	missense	130507	exon26			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3904C>T	2.37:g.170850952C>T	ENSP00000272793:p.Arg1302Cys	Somatic		Capture	Illumina HiSeq	Phase_I	170559198	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.073687	0.76415	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.51071	0.72;0.72;0.75	5.07	4.13	0.48395	.	0.117011	0.64402	D	0.000019	T	0.56673	0.2001	L	0.56769	1.78	0.43130	D	0.994868	D;D;D	0.76494	0.978;0.997;0.999	P;P;P	0.56474	0.451;0.742;0.799	T	0.60424	-0.7266	10	0.56958	D	0.05	.	12.279	0.54753	0.2975:0.7024:0.0:0.0	.	1302;123;1302	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	C	1302;1302;1302;123	ENSP00000272793:R1302C;ENSP00000396068:R1302C;ENSP00000376408:R123C	ENSP00000272793:R1302C	R	+	1	0	UBR3	170559198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.397000	0.59690	2.338000	0.79540	0.650000	0.86243	CGT		0.378	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UBR3	130507	broad.mit.edu	37	2	170912049	170912049	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170912049C>T	ENST00000272793.5	+	33	4790	c.4740C>T	c.(4738-4740)agC>agT	p.S1580S	UBR3_ENST00000418381.1_Silent_p.S1580S|UBR3_ENST00000392631.1_Silent_p.S401S			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1580					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1580S(1)|p.S433S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAAATGCAGCGAAGAAGATA	0.428																																					p.S1580S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4740T	2						.						112.0	113.0	113.0					2																	170912049		2203	4300	6503	170620295	SO:0001819	synonymous_variant	130507	exon33			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4740C>T	2.37:g.170912049C>T		Somatic		Capture	Illumina HiSeq	Phase_I	170620295	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	C	9.349	1.064906	0.20067	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.39	1.51	0.23008	.	.	.	.	.	T	0.51550	0.1681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	4	.	.	.	.	5.1672	0.15092	0.0:0.3262:0.1501:0.5237	.	.	.	.	V	642	.	.	A	+	2	0	UBR3	170620295	0.475000	0.25894	0.978000	0.43139	0.928000	0.56348	-0.323000	0.07997	0.115000	0.18071	-0.423000	0.05987	GCG		0.428	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UBR3	130507	broad.mit.edu	37	2	170936478	170936478	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170936478T>G	ENST00000272793.5	+	37	5404	c.5354T>G	c.(5353-5355)tTt>tGt	p.F1785C	UBR3_ENST00000418381.1_Missense_Mutation_p.F1785C|UBR3_ENST00000392631.1_Missense_Mutation_p.F606C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1785	Cys-rich.				embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F638C(1)|p.F1785C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTGGTACTTTTGTATGCCTG	0.378																																					p.F1785C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5354G	2						.						164.0	151.0	155.0					2																	170936478		2203	4300	6503	170644724	SO:0001583	missense	130507	exon37			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5354T>G	2.37:g.170936478T>G	ENSP00000272793:p.Phe1785Cys	Somatic		Capture	Illumina HiSeq	Phase_I	170644724	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.065734|4.065734	0.76187|0.76187	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.49720|.	0.77;0.77;0.77;0.77|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69878|0.69878	0.3160|0.3160	L|L	0.57536|0.57536	1.79|1.79	0.49130|0.49130	D|D	0.999757|0.999757	D;D;D|.	0.89917|.	0.999;1.0;0.997|.	D;D;D|.	0.77557|.	0.99;0.964;0.981|.	T|T	0.68762|0.68762	-0.5323|-0.5323	10|5	0.66056|.	D|.	0.02|.	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1785;606;1814|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	C|V	1785;1814;1785;606;485|847	ENSP00000272793:F1785C;ENSP00000396068:F1785C;ENSP00000376408:F606C;ENSP00000389097:F485C|.	ENSP00000272793:F1785C|.	F|L	+|+	2|1	0|2	UBR3|UBR3	170644724|170644724	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	7.655000|7.655000	0.83696|0.83696	2.078000|2.078000	0.62432|0.62432	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.378	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
MYO3B	140469	broad.mit.edu	37	2	171070975	171070975	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:171070975C>A	ENST00000408978.4	+	4	551	c.408C>A	c.(406-408)atC>atA	p.I136I	MYO3B_ENST00000409044.3_Silent_p.I136I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.I145I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.I136I(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTCATACATCTTGTACGGGG	0.463																																					p.I136I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408A	2						.						91.0	87.0	88.0					2																	171070975		1946	4141	6087	170779221	SO:0001819	synonymous_variant	140469	exon4				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.408C>A	2.37:g.171070975C>A		Somatic		Capture	Illumina HiSeq	Phase_I	170779221	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061530	0.19987	.	.	ENSG00000071909	ENST00000442690	.	.	.	5.41	2.63	0.31362	.	.	.	.	.	T	0.57227	0.2039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48758	-0.9007	4	.	.	.	.	8.1938	0.31385	0.0:0.6927:0.0:0.3073	.	.	.	.	I	136	.	.	L	+	1	0	MYO3B	170779221	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.486000	0.45259	0.272000	0.22027	-0.127000	0.14921	CTT		0.463	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171259490	171259490	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:171259490T>G	ENST00000408978.4	+	19	2405	c.2262T>G	c.(2260-2262)gtT>gtG	p.V754V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.V763V|MYO3B_ENST00000409044.3_Silent_p.V754V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	754	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.V754V(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCAGCATGTTTTTGCTCTTG	0.403																																					p.V754V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2262G	2						.						115.0	104.0	107.0					2																	171259490		1872	4105	5977	170967736	SO:0001819	synonymous_variant	140469	exon19				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2262T>G	2.37:g.171259490T>G		Somatic		Capture	Illumina HiSeq	Phase_I	170967736	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				0.403	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
TLK1	9874	broad.mit.edu	37	2	171910320	171910320	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:171910320T>G	ENST00000431350.2	-	8	1087	c.683A>C	c.(682-684)aAa>aCa	p.K228T	TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Missense_Mutation_p.K132T|TLK1_ENST00000360843.3_Missense_Mutation_p.K249T|TLK1_ENST00000442919.2_Missense_Mutation_p.K180T|TLK1_ENST00000521943.1_Missense_Mutation_p.K180T			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	228					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K228T(1)|p.K180T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTCCTGGATTTTATTACTTTC	0.318																																					p.K132T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A395C	2						.						161.0	170.0	167.0					2																	171910320		2202	4300	6502	171618566	SO:0001583	missense	9874	exon6			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.683A>C	2.37:g.171910320T>G	ENSP00000411099:p.Lys228Thr	Somatic		Capture	Illumina HiSeq	Phase_I	171618566	NM_001136555	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193135	0.78902	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911;ENST00000453628	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.73598	2.24	0.58432	D	0.999995	P;P;D	0.89917	0.885;0.934;1.0	P;P;D	0.87578	0.459;0.734;0.998	T	0.71902	-0.4452	10	0.56958	D	0.05	-10.4573	15.8893	0.79279	0.0:0.0:0.0:1.0	.	132;249;228	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	T	180;228;249;180;132;153	ENSP00000402165:K180T;ENSP00000411099:K228T;ENSP00000354089:K249T;ENSP00000428113:K180T;ENSP00000409222:K132T;ENSP00000393165:K153T	ENSP00000354089:K249T	K	-	2	0	TLK1	171618566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.153000	0.67306	0.528000	0.53228	AAA		0.318	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
DCAF17	80067	broad.mit.edu	37	2	172305324	172305324	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:172305324T>G	ENST00000375255.3	+	4	782	c.455T>G	c.(454-456)tTc>tGc	p.F152C	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.F152C	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	152					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.F152C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TATTGCAAATTCAGGTATTTA	0.333																																					p.F152C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T455G	2						.						60.0	58.0	58.0					2																	172305324		1797	4061	5858	172013570	SO:0001583	missense	80067	exon4			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.455T>G	2.37:g.172305324T>G	ENSP00000364404:p.Phe152Cys	Somatic		Capture	Illumina HiSeq	Phase_I	172013570	NM_025000	B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588369	0.66105	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.63913	-0.03;-0.07	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.64997	1.995	0.42704	D	0.993623	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	T	0.79514	-0.1772	10	0.87932	D	0	-8.6677	14.1025	0.65065	0.0:0.0:0.0:1.0	.	152;152	F5H7W1;Q5H9S7	.;DCA17_HUMAN	C	152	ENSP00000364404:F152C;ENSP00000442238:F152C	ENSP00000364404:F152C	F	+	2	0	DCAF17	172013570	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.388000	0.59633	1.797000	0.52628	0.378000	0.23410	TTC		0.333	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	
SLC25A12	8604	broad.mit.edu	37	2	172749728	172749728	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:172749728T>G	ENST00000422440.2	-	2	90	c.53A>C	c.(52-54)aAc>aCc	p.N18T	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	18					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.N18T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TAGAAATATGTTTCTTAACTC	0.378																																					p.N18T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A53C	2						.						158.0	153.0	154.0					2																	172749728		2203	4300	6503	172457974	SO:0001583	missense	8604	exon2			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.53A>C	2.37:g.172749728T>G	ENSP00000388658:p.Asn18Thr	Somatic		Capture	Illumina HiSeq	Phase_I	172457974	NM_003705	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	T	8.837	0.941226	0.18281	.	.	ENSG00000115840	ENST00000422440	T	0.73575	-0.76	5.48	5.48	0.80851	EF-hand-like domain (1);	0.174356	0.50627	D	0.000116	T	0.56572	0.1994	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52859	-0.8519	10	0.14252	T	0.57	-11.6139	11.9842	0.53138	0.0:0.0:0.0:1.0	.	18	O75746	CMC1_HUMAN	T	18	ENSP00000388658:N18T	ENSP00000263812:N18T	N	-	2	0	SLC25A12	172457974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.051000	0.57412	2.084000	0.62774	0.533000	0.62120	AAC		0.378	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	
ITGA6	3655	broad.mit.edu	37	2	173355817	173355817	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:173355817T>G	ENST00000264106.6	+	22	3065	c.2862T>G	c.(2860-2862)ttT>ttG	p.F954L	ITGA6_ENST00000343713.4_Missense_Mutation_p.F910L|ITGA6_ENST00000409080.1_Missense_Mutation_p.F915L|ITGA6_ENST00000409532.1_Missense_Mutation_p.F796L|ITGA6_ENST00000264107.7_Missense_Mutation_p.F915L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.F954L			P23229	ITA6_HUMAN	integrin, alpha 6	954					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F915L(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGAAAATTTTCTTTATTTG	0.313																																					p.F915L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2745G	2						.						122.0	151.0	141.0					2																	173355817		2196	4297	6493	173064063	SO:0001583	missense	3655	exon21				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2862T>G	2.37:g.173355817T>G	ENSP00000264106:p.Phe954Leu	Somatic		Capture	Illumina HiSeq	Phase_I	173064063	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	T	10.12	1.262574	0.23051	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;2.02	5.4	1.42	0.22433	.	0.314929	0.38058	N	0.001840	T	0.26738	0.0654	L	0.33485	1.01	0.44937	D	0.997958	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.13407	0.005;0.002;0.002;0.009	T	0.04900	-1.0919	10	0.32370	T	0.25	.	6.1942	0.20540	0.0:0.147:0.1353:0.7177	.	910;939;915;915	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	L	796;915;954;954;910;915;954;910;82	ENSP00000386614:F796L;ENSP00000264107:F915L;ENSP00000264106:F954L;ENSP00000364369:F954L;ENSP00000341078:F910L;ENSP00000386896:F915L;ENSP00000406694:F954L;ENSP00000394169:F910L;ENSP00000388435:F82L	ENSP00000264106:F954L	F	+	3	2	ITGA6	173064063	0.909000	0.30893	0.940000	0.37924	0.984000	0.73092	-0.019000	0.12546	0.340000	0.23745	0.377000	0.23210	TTT		0.313	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
RAPGEF4	11069	broad.mit.edu	37	2	173882186	173882186	+	Silent	SNP	C	C	T	rs549829112		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:173882186C>T	ENST00000397081.3	+	21	2105	c.1962C>T	c.(1960-1962)ggC>ggT	p.G654G	RAPGEF4_ENST00000535187.1_Silent_p.G434G|RAPGEF4_ENST00000409036.1_Silent_p.G654G|RAPGEF4_ENST00000540783.1_Silent_p.G501G|RAPGEF4_ENST00000539331.1_Silent_p.G501G|RAPGEF4_ENST00000397087.3_Silent_p.G510G|RAPGEF4_ENST00000538974.1_Silent_p.G483G|RAPGEF4_ENST00000264111.6_Silent_p.G653G	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	654					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G654G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAATACGGGCGATGAGAGAG	0.468													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17335	0.0		0.0	False		,,,				2504	0.0				p.G654G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962T	2						.						72.0	70.0	71.0					2																	173882186		1905	4124	6029	173590432	SO:0001819	synonymous_variant	11069	exon21			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1962C>T	2.37:g.173882186C>T		Somatic		Capture	Illumina HiSeq	Phase_I	173590432	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																				0.468	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
RAPGEF4	11069	broad.mit.edu	37	2	173891815	173891815	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:173891815C>T	ENST00000397081.3	+	25	2529	c.2386C>T	c.(2386-2388)Cta>Tta	p.L796L	RAPGEF4_ENST00000535187.1_Silent_p.L576L|RAPGEF4_ENST00000409036.1_Silent_p.L796L|RAPGEF4_ENST00000540783.1_Silent_p.L643L|RAPGEF4_ENST00000539331.1_Silent_p.L643L|RAPGEF4_ENST00000397087.3_Silent_p.L652L|RAPGEF4_ENST00000538974.1_Silent_p.L625L|RAPGEF4_ENST00000264111.6_Silent_p.L795L	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	796	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.L796L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTAGCTGGAGCTAATCTATCA	0.338																																					p.L796L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2386T	2						.						71.0	68.0	69.0					2																	173891815		1802	4065	5867	173600061	SO:0001819	synonymous_variant	11069	exon25			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2386C>T	2.37:g.173891815C>T		Somatic		Capture	Illumina HiSeq	Phase_I	173600061	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																				0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
RAPGEF4	11069	broad.mit.edu	37	2	173913329	173913329	+	Splice_Site	SNP	G	G	A	rs200990002		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:173913329G>A	ENST00000397081.3	+	30	2998	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	RAPGEF4_ENST00000535187.1_Splice_Site_p.R732H|RAPGEF4_ENST00000409036.1_Splice_Site_p.R884H|RAPGEF4_ENST00000540783.1_Splice_Site_p.R799H|RAPGEF4_ENST00000539331.1_Splice_Site_p.R799H|RAPGEF4_ENST00000397087.3_Splice_Site_p.R808H|RAPGEF4_ENST00000538974.1_Splice_Site_p.R781H|RAPGEF4_ENST00000264111.6_Splice_Site_p.R951H	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	952	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R952H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCCTTTTAGCGCATGATTGCA	0.378																																					p.R952H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2855A	2						.	G	HIS/ARG,HIS/ARG	0,3702		0,0,1851	119.0	110.0	113.0		2423,2855	5.8	1.0	2		113	7,8191		0,7,4092	yes	missense-near-splice,missense-near-splice	RAPGEF4	NM_001100397.1,NM_007023.3	29,29	0,7,5943	AA,AG,GG		0.0854,0.0,0.0588	benign,benign	808/868,952/1012	173913329	7,11893	1851	4099	5950	173621575	SO:0001630	splice_region_variant	11069	exon30			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2854-1G>A	2.37:g.173913329G>A		Somatic		Capture	Illumina HiSeq	Phase_I	173621575	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663844	0.67700	0.0	8.54E-4	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.82	5.82	0.92795	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	N	0.20685	0.6	0.80722	D	1	B;B	0.26744	0.072;0.158	B;B	0.27076	0.03;0.076	T	0.09250	-1.0683	10	0.02654	T	1	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	808;952	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	H	951;952;884;808;781;799;799;732	ENSP00000264111:R951H;ENSP00000380271:R952H;ENSP00000387104:R884H;ENSP00000380276:R808H;ENSP00000440135:R781H;ENSP00000440250:R799H;ENSP00000437384:R799H;ENSP00000438011:R732H	ENSP00000264111:R951H	R	+	2	0	RAPGEF4	173621575	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.805000	0.91925	2.739000	0.93911	0.655000	0.94253	CGC		0.378	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	Missense_Mutation
RAPGEF4	11069	broad.mit.edu	37	2	173916425	173916425	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:173916425A>T	ENST00000397081.3	+	31	3109	c.2966A>T	c.(2965-2967)cAa>cTa	p.Q989L	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Q769L|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Q921L|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Q836L|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Q836L|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Q845L|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Q818L|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Q988L	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	989	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Q989L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATGTACGGCAATTAAATGTG	0.408																																					p.Q989L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2966T	2						.						106.0	96.0	100.0					2																	173916425		1917	4131	6048	173624671	SO:0001583	missense	11069	exon31			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2966A>T	2.37:g.173916425A>T	ENSP00000380271:p.Gln989Leu	Somatic		Capture	Illumina HiSeq	Phase_I	173624671	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803263	0.70682	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	6.06	6.06	0.98353	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	M	0.62723	1.935	0.80722	D	1	B;B	0.32893	0.356;0.389	B;B	0.34536	0.185;0.09	T	0.16748	-1.0392	10	0.59425	D	0.04	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	845;989	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	L	988;989;921;845;818;836;836;769	ENSP00000264111:Q988L;ENSP00000380271:Q989L;ENSP00000387104:Q921L;ENSP00000380276:Q845L;ENSP00000440135:Q818L;ENSP00000440250:Q836L;ENSP00000437384:Q836L;ENSP00000438011:Q769L	ENSP00000264111:Q988L	Q	+	2	0	RAPGEF4	173624671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.218000	0.89768	2.324000	0.78689	0.533000	0.62120	CAA		0.408	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
ZAK	51776	broad.mit.edu	37	2	174034561	174034561	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:174034561G>A	ENST00000375213.3	+	3	266	c.188G>A	c.(187-189)aGa>aAa	p.R63K	MLTK_ENST00000409176.2_Missense_Mutation_p.R63K|MLTK_ENST00000539448.1_Missense_Mutation_p.R63K|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.R63K|MLTK_ENST00000431503.2_5'UTR|MLTK_ENST00000480606.1_3'UTR|MLK7-AS1_ENST00000419609.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.R63K(2)									CTCAGTCACAGAAACATCATC	0.343																																					p.R63K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G188A	2						.						144.0	139.0	141.0					2																	174034561		2203	4300	6503	173742807	SO:0001583	missense	51776	exon3																														ENST00000375213.3:c.188G>A	2.37:g.174034561G>A	ENSP00000364361:p.Arg63Lys	Somatic		Capture	Illumina HiSeq	Phase_I	173742807	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798687	0.50208	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088228	0.85682	D	0.000000	T	0.81024	0.4737	N	0.12443	0.215	0.80722	D	1	B;B;B;B	0.21606	0.003;0.058;0.003;0.003	B;B;B;B	0.29077	0.009;0.098;0.015;0.009	T	0.76269	-0.3021	10	0.35671	T	0.21	.	14.0062	0.64465	0.0742:0.0:0.9258:0.0	.	63;63;63;63	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	K	63	ENSP00000439414:R63K;ENSP00000387259:R63K;ENSP00000340257:R63K;ENSP00000364361:R63K;ENSP00000411923:R63K	ENSP00000340257:R63K	R	+	2	0	AC013461.1	173742807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.679000	0.68160	2.663000	0.90544	0.557000	0.71058	AGA		0.343	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
ZAK	51776	broad.mit.edu	37	2	174068565	174068565	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:174068565A>C	ENST00000375213.3	+	9	789	c.711A>C	c.(709-711)gaA>gaC	p.E237D	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.E237D|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.E136D|MLTK_ENST00000409176.2_Missense_Mutation_p.E237D|MLTK_ENST00000338983.3_Missense_Mutation_p.E237D|MLK7-AS1_ENST00000419609.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.E237D(2)									GTTTTGCTGAACTGTTACATC	0.338																																					p.E237D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A711C	2						.						193.0	188.0	189.0					2																	174068565		2203	4300	6503	173776811	SO:0001583	missense	51776	exon9																														ENST00000375213.3:c.711A>C	2.37:g.174068565A>C	ENSP00000364361:p.Glu237Asp	Somatic		Capture	Illumina HiSeq	Phase_I	173776811	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830870	0.50845	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.82	-0.513	0.11962	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087078	0.85682	D	0.000000	T	0.70640	0.3247	N	0.11201	0.11	0.47308	D	0.99938	B;B;B;B;B	0.24092	0.007;0.005;0.097;0.007;0.021	B;B;B;B;B	0.27170	0.012;0.007;0.077;0.012;0.013	T	0.53662	-0.8407	10	0.13108	T	0.6	.	10.3685	0.44039	0.5667:0.0:0.4333:0.0	.	237;237;237;237;237	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	D	237;237;237;136;237	ENSP00000439414:E237D;ENSP00000387259:E237D;ENSP00000340257:E237D;ENSP00000399787:E136D;ENSP00000364361:E237D	ENSP00000340257:E237D	E	+	3	2	AC013461.1	173776811	0.993000	0.37304	0.998000	0.56505	0.999000	0.98932	0.441000	0.21611	-0.084000	0.12595	0.533000	0.62120	GAA		0.338	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
CDCA7	83879	broad.mit.edu	37	2	174231050	174231050	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:174231050A>G	ENST00000347703.3	+	7	982	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	CDCA7_ENST00000410019.3_Missense_Mutation_p.T238A|CDCA7_ENST00000306721.3_Missense_Mutation_p.T359A|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.T315A	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	280	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T359A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GACTATTGATACCAAAACAAA	0.448																																					p.T359A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1075G	2						.						93.0	94.0	94.0					2																	174231050		2203	4300	6503	173939296	SO:0001583	missense	83879	exon8			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.838A>G	2.37:g.174231050A>G	ENSP00000272789:p.Thr280Ala	Somatic		Capture	Illumina HiSeq	Phase_I	173939296	NM_031942	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878284	0.91664	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T	0.50001	0.8;0.76;0.79;0.8	5.67	5.67	0.87782	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.66939	2.045	0.80722	D	1	D;D;P;D	0.65815	0.974;0.995;0.955;0.992	P;D;P;D	0.68353	0.887;0.957;0.808;0.94	T	0.61123	-0.7126	10	0.22706	T	0.39	-19.4281	15.9204	0.79562	1.0:0.0:0.0:0.0	.	238;315;280;359	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	A	280;359;315;238	ENSP00000272789:T280A;ENSP00000306968:T359A;ENSP00000386656:T315A;ENSP00000386833:T238A	ENSP00000306968:T359A	T	+	1	0	CDCA7	173939296	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.304000	0.96190	2.164000	0.68074	0.533000	0.62120	ACC		0.448	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942	
CIR1	9541	broad.mit.edu	37	2	175213353	175213353	+	Nonsense_Mutation	SNP	G	G	A	rs373714942		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:175213353G>A	ENST00000342016.3	-	10	1317	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	409	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R409*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCAGGATTTCGCTGTGCCCGT	0.532																																					p.R409X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1225T	2						.						191.0	186.0	188.0					2																	175213353		2203	4300	6503	174921599	SO:0001587	stop_gained	9541	exon10			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1225C>T	2.37:g.175213353G>A	ENSP00000339723:p.Arg409*	Somatic		Capture	Illumina HiSeq	Phase_I	174921599	NM_004882	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Nonsense_Mutation	SNP	ENST00000342016.3	37	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492615	0.44352	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.03	4.18	0.49190	.	1.235410	0.05309	N	0.524434	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	9.2176	0.37358	0.1756:0.0:0.8244:0.0	.	.	.	.	X	409	.	ENSP00000339723:R409X	R	-	1	2	CIR1	174921599	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.089000	0.15002	0.821000	0.34540	0.557000	0.71058	CGA		0.532	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882	
RAD51AP2	729475	broad.mit.edu	37	2	17698332	17698332	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:17698332C>A	ENST00000399080.2	-	1	1374	c.1351G>T	c.(1351-1353)Gtc>Ttc	p.V451F		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	451								p.V451F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCATTGATGACTTTTGCACAG	0.318																																					p.V451F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351T	2						.						59.0	54.0	55.0					2																	17698332		1821	4078	5899	17561813	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1351G>T	2.37:g.17698332C>A	ENSP00000382030:p.Val451Phe	Somatic		Capture	Illumina HiSeq	Phase_I	17561813	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998456	0.35226	.	.	ENSG00000214842	ENST00000399080	T	0.28454	1.61	4.74	0.837	0.18896	.	.	.	.	.	T	0.18551	0.0445	N	0.24115	0.695	0.09310	N	1	B	0.22683	0.073	B	0.25291	0.059	T	0.27297	-1.0078	9	0.66056	D	0.02	0.9649	3.629	0.08124	0.2932:0.4504:0.0:0.2564	.	451	Q09MP3	R51A2_HUMAN	F	451	ENSP00000382030:V451F	ENSP00000382030:V451F	V	-	1	0	RAD51AP2	17561813	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.067000	0.11579	0.016000	0.14998	-0.244000	0.11960	GTC		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
WIPF1	7456	broad.mit.edu	37	2	175431873	175431873	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:175431873C>T	ENST00000392547.2	-	7	1480	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.D461N(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443																																					p.D461N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1381A	2						.						136.0	135.0	136.0					2																	175431873		2203	4300	6503	175140119	SO:0001583	missense	7456	exon7			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1381G>A	2.37:g.175431873C>T	ENSP00000376330:p.Asp461Asn	Somatic		Capture	Illumina HiSeq	Phase_I	175140119	NM_003387	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240436	0.95240	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	T;T;T;T;T	0.63096	0.62;0.67;0.62;0.62;-0.02	6.03	6.03	0.97812	.	0.045937	0.85682	D	0.000000	T	0.81959	0.4933	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.966;0.926	T	0.82820	-0.0268	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	461;461;461	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	N	461;317;461;461;461;461	ENSP00000376330:D461N;ENSP00000272746:D461N;ENSP00000352802:D461N;ENSP00000376329:D461N;ENSP00000386431:D461N	ENSP00000272746:D461N	D	-	1	0	WIPF1	175140119	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.262000	0.72514	2.854000	0.98071	0.655000	0.94253	GAT		0.443	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
ATP5G3	518	broad.mit.edu	37	2	176043878	176043878	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:176043878T>G	ENST00000284727.4	-	4	3245	c.221A>C	c.(220-222)aAa>aCa	p.K74T	ATP5G3_ENST00000392541.3_Missense_Mutation_p.K74T|ATP5G3_ENST00000409194.1_Missense_Mutation_p.K74T|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	74					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.K74T(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ACCAATAAATTTGGCAGCAGT	0.478																																					p.K74T	GBM(30;387 605 18606 28805 47989)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221C	2						.						110.0	100.0	104.0					2																	176043878		2203	4300	6503	175752124	SO:0001583	missense	518	exon4			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.221A>C	2.37:g.176043878T>G	ENSP00000284727:p.Lys74Thr	Somatic		Capture	Illumina HiSeq	Phase_I	175752124	NM_001689	B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086696	0.94100	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.47177	0.85;0.85;0.85	5.7	5.7	0.88788	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79902	-0.1607	10	0.87932	D	0	-1.4103	15.9796	0.80097	0.0:0.0:0.0:1.0	.	74	P48201	AT5G3_HUMAN	T	74	ENSP00000284727:K74T;ENSP00000387317:K74T;ENSP00000376324:K74T	ENSP00000284727:K74T	K	-	2	0	ATP5G3	175752124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.185000	0.69588	0.528000	0.53228	AAA		0.478	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689	
KIAA1715	80856	broad.mit.edu	37	2	176835496	176835496	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:176835496T>G	ENST00000272748.4	-	6	600	c.353A>C	c.(352-354)aAa>aCa	p.K118T	KIAA1715_ENST00000544803.1_Missense_Mutation_p.K118T|KIAA1715_ENST00000535310.1_Missense_Mutation_p.K43T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	118					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.K118T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACTTACTATTTTTTTCCTCTG	0.239																																					p.K118T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A353C	2						.						7.0	8.0	8.0					2																	176835496		1972	4067	6039	176543742	SO:0001583	missense	80856	exon6			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.353A>C	2.37:g.176835496T>G	ENSP00000272748:p.Lys118Thr	Somatic		Capture	Illumina HiSeq	Phase_I	176543742	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708066	0.68615	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.64404	1.975	0.80722	D	1	P;D;B;P	0.71674	0.82;0.998;0.349;0.93	P;D;B;P	0.70935	0.568;0.971;0.09;0.625	T	0.77882	-0.2422	9	0.87932	D	0	-23.2718	12.8668	0.57944	0.0:0.0:0.0:1.0	.	120;118;115;118	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	118;120;118;43;113	.	ENSP00000272748:K118T	K	-	2	0	KIAA1715	176543742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.332000	0.65911	1.983000	0.57843	0.482000	0.46254	AAA		0.239	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	
EVX2	344191	broad.mit.edu	37	2	176948451	176948451	+	Silent	SNP	G	G	A	rs533201192		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:176948451G>A	ENST00000308618.4	-	1	190	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	18					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S18S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGCCGTAGGGCTGTGCAGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16150	0.001		0.0	False		,,,				2504	0.0				p.S18S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	2						.						71.0	82.0	78.0					2																	176948451		2203	4300	6503	176656697	SO:0001819	synonymous_variant	344191	exon1				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.54C>T	2.37:g.176948451G>A		Somatic		Capture	Illumina HiSeq	Phase_I	176656697	NM_001080458		Silent	SNP	ENST00000308618.4	37	CCDS33333.1																																																																																				0.532	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1		
HOXD8	3234	broad.mit.edu	37	2	176995502	176995502	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:176995502T>G	ENST00000313173.4	+	1	1035	c.408T>G	c.(406-408)ttT>ttG	p.F136L	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.F136L|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.F136L	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	136					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F136L(1)		central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCGCGAAGTTTTACGGATACG	0.597																																					p.F136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T408G	2						.						67.0	80.0	75.0					2																	176995502		2195	4289	6484	176703748	SO:0001583	missense	3234	exon1				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.408T>G	2.37:g.176995502T>G	ENSP00000315949:p.Phe136Leu	Somatic		Capture	Illumina HiSeq	Phase_I	176703748	NM_019558	F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155796	0.57259	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	T;T;T	0.42900	0.96;0.96;0.96	4.36	4.36	0.52297	.	0.204933	0.33650	N	0.004687	T	0.30262	0.0759	L	0.35644	1.08	0.43896	D	0.99652	B;B	0.31599	0.33;0.209	B;B	0.27887	0.084;0.084	T	0.07252	-1.0782	10	0.13470	T	0.59	.	13.8644	0.63578	0.0:0.0:0.0:1.0	.	136;136	Q8IXZ1;P13378	.;HXD8_HUMAN	L	136	ENSP00000315949:F136L;ENSP00000437431:F136L;ENSP00000409026:F136L	ENSP00000315949:F136L	F	+	3	2	HOXD8	176703748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.798000	0.55522	1.725000	0.51514	0.523000	0.50628	TTT		0.597	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1		
SMC6	79677	broad.mit.edu	37	2	17899368	17899368	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:17899368C>T	ENST00000448223.2	-	12	1337	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	SMC6_ENST00000381272.4_Silent_p.K382K|SMC6_ENST00000402989.1_Silent_p.K356K|SMC6_ENST00000351948.4_Silent_p.K356K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	356					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.K356K(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGCCCTTTTCTTAGCAACAA	0.343																																					p.K356K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1068A	2						.						181.0	174.0	177.0					2																	17899368		2203	4300	6503	17762849	SO:0001819	synonymous_variant	79677	exon12			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1068G>A	2.37:g.17899368C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17762849	NM_001142286	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	
HOXD8	3234	broad.mit.edu	37	2	176996249	176996249	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:176996249T>G	ENST00000313173.4	+	2	1409	c.782T>G	c.(781-783)tTt>tGt	p.F261C	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.F157C|HOXD8_ENST00000450510.2_Missense_Mutation_p.F260C|HOXD8_ENST00000429017.1_Missense_Mutation_p.F77C|HOXD8_ENST00000544999.1_Missense_Mutation_p.F260C	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	261					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F261C(1)		central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGACAAATTTCCCGTTTCC	0.493																																					p.F261C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T782G	2						.						81.0	95.0	90.0					2																	176996249		2203	4300	6503	176704495	SO:0001583	missense	3234	exon2				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.782T>G	2.37:g.176996249T>G	ENSP00000315949:p.Phe261Cys	Somatic		Capture	Illumina HiSeq	Phase_I	176704495	NM_019558	F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062617	0.55432	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91686	-2.8;-2.89;-2.79;-2.65;-2.79	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000012	D	0.92153	0.7512	N	0.19112	0.55	0.42010	D	0.990939	D;D	0.76494	0.998;0.999	P;D	0.68765	0.865;0.96	D	0.92408	0.5935	10	0.38643	T	0.18	.	15.8909	0.79296	0.0:0.0:0.0:1.0	.	260;261	Q8IXZ1;P13378	.;HXD8_HUMAN	C	77;261;260;157;260	ENSP00000406045:F77C;ENSP00000315949:F261C;ENSP00000437431:F260C;ENSP00000448196:F157C;ENSP00000409026:F260C	ENSP00000315949:F261C	F	+	2	0	HOXD8	176704495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.146000	0.66826	0.533000	0.62120	TTT		0.493	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1		
HNRNPA3	220988	broad.mit.edu	37	2	178080622	178080622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178080622G>T	ENST00000392524.2	+	3	577	c.340G>T	c.(340-342)Gag>Tag	p.E114*	HNRNPA3_ENST00000435711.1_Nonsense_Mutation_p.E114*|HNRNPA3_ENST00000411529.2_Nonsense_Mutation_p.E92*			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	114	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E114*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TGTTTCTAGAGAGGTATTTTA	0.368																																					p.E114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G340T	2						.						96.0	100.0	98.0					2																	178080622		2203	4300	6503	177788868	SO:0001587	stop_gained	220988	exon3			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.340G>T	2.37:g.178080622G>T	ENSP00000376309:p.Glu114*	Somatic		Capture	Illumina HiSeq	Phase_I	177788868	NM_194247	D3DPF4|Q53RW7|Q6URK5	Nonsense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994740	0.93167	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	.	.	.	3.68	3.68	0.42216	.	0.000000	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9789	0.80091	0.0:0.0:1.0:0.0	.	.	.	.	X	114;92;92;92;114	.	ENSP00000376309:E114X	E	+	1	0	HNRNPA3	177788868	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.507000	0.97996	2.077000	0.62373	0.467000	0.42956	GAG		0.368	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
HNRNPA3	220988	broad.mit.edu	37	2	178081265	178081265	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178081265T>C	ENST00000392524.2	+	5	825	c.588T>C	c.(586-588)tgT>tgC	p.C196C	HNRNPA3_ENST00000435711.1_Silent_p.C196C|HNRNPA3_ENST00000411529.2_Silent_p.C174C			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	196	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.C196C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGCATAATTGTGAAGTGAAAA	0.343																																					p.C196C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T588C	2						.						90.0	93.0	92.0					2																	178081265		2203	4300	6503	177789511	SO:0001819	synonymous_variant	220988	exon5			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.588T>C	2.37:g.178081265T>C		Somatic		Capture	Illumina HiSeq	Phase_I	177789511	NM_194247	D3DPF4|Q53RW7|Q6URK5	Silent	SNP	ENST00000392524.2	37	CCDS2273.1																																																																																				0.343	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
GEN1	348654	broad.mit.edu	37	2	17954545	17954545	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:17954545A>G	ENST00000381254.2	+	10	1264	c.1050A>G	c.(1048-1050)agA>agG	p.R350R	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Silent_p.R350R	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	350					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R350R(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTACCAAAGACCTGATTTGT	0.303								Homologous recombination																													p.R350R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1050G	2						.						33.0	34.0	34.0					2																	17954545		2199	4290	6489	17818026	SO:0001819	synonymous_variant	348654	exon10			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1050A>G	2.37:g.17954545A>G		Somatic		Capture	Illumina HiSeq	Phase_I	17818026	NM_001130009	Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	CCDS1691.1																																																																																				0.303	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
AGPS	8540	broad.mit.edu	37	2	178326740	178326740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178326740G>T	ENST00000264167.4	+	9	1136	c.990G>T	c.(988-990)gaG>gaT	p.E330D	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	330	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.E330D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GCAATATCGAGGACCTGGTAA	0.348																																					p.E330D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G990T	2						.						68.0	66.0	67.0					2																	178326740		2203	4300	6503	178034986	SO:0001583	missense	8540	exon9			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.990G>T	2.37:g.178326740G>T	ENSP00000264167:p.Glu330Asp	Somatic		Capture	Illumina HiSeq	Phase_I	178034986	NM_003659	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773994	0.69992	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82433	-1.61	5.61	0.591	0.17465	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.267381	0.41194	D	0.000933	D	0.82426	0.5034	M	0.62723	1.935	0.80722	D	1	P	0.40578	0.722	P	0.47941	0.562	T	0.78542	-0.2164	10	0.45353	T	0.12	.	9.6802	0.40065	0.5208:0.0:0.4792:0.0	.	330	O00116	ADAS_HUMAN	D	330;200	ENSP00000264167:E330D	ENSP00000264167:E330D	E	+	3	2	AGPS	178034986	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.539000	0.36104	0.165000	0.19558	0.655000	0.94253	GAG		0.348	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
GEN1	348654	broad.mit.edu	37	2	17962005	17962005	+	Missense_Mutation	SNP	C	C	T	rs150586336	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:17962005C>T	ENST00000381254.2	+	14	1740	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S509L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	509					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S509L(2)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTTAAATTCGGGGATTTCC	0.368								Homologous recombination																													p.S509L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1526T	2						.						76.0	75.0	75.0					2																	17962005		2203	4300	6503	17825486	SO:0001583	missense	348654	exon14			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1526C>T	2.37:g.17962005C>T	ENSP00000370653:p.Ser509Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17825486	NM_001130009	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277944	0.00254	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.40225	1.9;1.9;1.04	5.46	1.37	0.22104	.	1.331230	0.05002	N	0.469266	T	0.09202	0.0227	N	0.00085	-2.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14008	-1.0488	10	0.25106	T	0.35	-0.0277	1.2389	0.01958	0.1381:0.159:0.2863:0.4166	.	509	Q17RS7	GEN_HUMAN	L	509;509;280;146	ENSP00000318977:S509L;ENSP00000370653:S509L;ENSP00000431542:S280L	ENSP00000318977:S509L	S	+	2	0	GEN1	17825486	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-0.077000	0.11394	0.414000	0.25790	-0.383000	0.06682	TCG		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
TTC30A	92104	broad.mit.edu	37	2	178482796	178482796	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178482796C>T	ENST00000355689.5	-	1	898	c.634G>A	c.(634-636)Gct>Act	p.A212T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	212					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.A212T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATAATCTCAGCGATATGCTTC	0.552																																					p.A212T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	2						.						67.0	66.0	66.0					2																	178482796		2203	4300	6503	178191042	SO:0001583	missense	92104	exon1			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.634G>A	2.37:g.178482796C>T	ENSP00000347915:p.Ala212Thr	Somatic		Capture	Illumina HiSeq	Phase_I	178191042	NM_152275	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201256	0.22121	.	.	ENSG00000197557	ENST00000355689	T	0.57752	0.38	5.78	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151459	0.56097	D	0.000022	T	0.54679	0.1873	M	0.81942	2.565	0.48975	D	0.999737	B	0.13594	0.008	B	0.15484	0.013	T	0.57075	-0.7873	10	0.66056	D	0.02	.	10.6879	0.45854	0.1314:0.7988:0.0:0.0697	.	212	Q86WT1	TT30A_HUMAN	T	212	ENSP00000347915:A212T	ENSP00000347915:A212T	A	-	1	0	TTC30A	178191042	0.993000	0.37304	0.798000	0.32154	0.107000	0.19398	3.340000	0.52143	1.471000	0.48121	-0.273000	0.10243	GCT		0.552	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
PDE11A	50940	broad.mit.edu	37	2	178936346	178936346	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178936346C>A	ENST00000286063.6	-	1	1136	c.819G>T	c.(817-819)gaG>gaT	p.E273D	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	273	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.E273D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CATTTGAGTTCTCTGTGCTGC	0.532									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.E273D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G819T	2						.						101.0	93.0	96.0					2																	178936346		2203	4300	6503	178644592	SO:0001583	missense	50940	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.819G>T	2.37:g.178936346C>A	ENSP00000286063:p.Glu273Asp	Somatic		Capture	Illumina HiSeq	Phase_I	178644592	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735635	0.30774	.	.	ENSG00000128655	ENST00000286063	T	0.68765	-0.35	5.63	2.59	0.31030	GAF (2);	0.378381	0.32081	N	0.006606	T	0.51958	0.1705	L	0.41415	1.275	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47911	-0.9080	10	0.33141	T	0.24	.	7.7163	0.28706	0.0:0.7113:0.1333:0.1554	.	273	Q9HCR9	PDE11_HUMAN	D	273	ENSP00000286063:E273D	ENSP00000286063:E273D	E	-	3	2	PDE11A	178644592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.795000	0.38784	1.339000	0.45563	0.655000	0.94253	GAG		0.532	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
PDE11A	50940	broad.mit.edu	37	2	178936600	178936600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178936600C>T	ENST00000286063.6	-	1	882	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	189					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.A189T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TAGTCGATGGCTGTAGGGGGA	0.527									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.A189T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565A	2						.						97.0	90.0	93.0					2																	178936600		2203	4300	6503	178644846	SO:0001583	missense	50940	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.565G>A	2.37:g.178936600C>T	ENSP00000286063:p.Ala189Thr	Somatic		Capture	Illumina HiSeq	Phase_I	178644846	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135454	0.37728	.	.	ENSG00000128655	ENST00000286063	T	0.68181	-0.31	5.13	4.25	0.50352	.	0.348390	0.32231	N	0.006398	T	0.54631	0.1870	L	0.52573	1.65	0.80722	D	1	B	0.22909	0.077	B	0.17979	0.02	T	0.45411	-0.9263	10	0.10377	T	0.69	.	9.8503	0.41053	0.0:0.7818:0.1398:0.0784	.	189	Q9HCR9	PDE11_HUMAN	T	189	ENSP00000286063:A189T	ENSP00000286063:A189T	A	-	1	0	PDE11A	178644846	1.000000	0.71417	0.965000	0.40720	0.967000	0.64934	7.321000	0.79088	1.161000	0.42604	0.655000	0.94253	GCC		0.527	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
RBM45	129831	broad.mit.edu	37	2	178985996	178985996	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178985996C>A	ENST00000286070.5	+	5	855	c.763C>A	c.(763-765)Cct>Act	p.P255T		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	257					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P255T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ATCAAGAGTTCCTTTCACTGA	0.358																																					p.P255T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763A	2						.						70.0	71.0	71.0					2																	178985996		2203	4300	6503	178694242	SO:0001583	missense	129831	exon5			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.763C>A	2.37:g.178985996C>A	ENSP00000286070:p.Pro255Thr	Somatic		Capture	Illumina HiSeq	Phase_I	178694242	NM_152945	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852254	0.51270	.	.	ENSG00000155636	ENST00000286070	T	0.05081	3.5	6.17	6.17	0.99709	.	0.143817	0.64402	D	0.000005	T	0.07818	0.0196	L	0.31664	0.95	0.49389	D	0.999781	P	0.38597	0.639	B	0.36959	0.237	T	0.25012	-1.0144	10	0.42905	T	0.14	-10.8848	19.8676	0.96824	0.0:1.0:0.0:0.0	.	255	Q8IUH3-3	.	T	255	ENSP00000286070:P255T	ENSP00000286070:P255T	P	+	1	0	RBM45	178694242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.703000	0.47110	2.941000	0.99782	0.655000	0.94253	CCT		0.358	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
OSBPL6	114880	broad.mit.edu	37	2	179260239	179260239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179260239C>T	ENST00000190611.4	+	25	3134	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R884*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R924*|OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R945*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R889*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R884*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	920					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R920*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTGGGAGCTTCGAAAGGACCC	0.393																																					p.R924X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2770T	2						.						103.0	106.0	105.0					2																	179260239		2203	4300	6503	178968485	SO:0001587	stop_gained	114880	exon24			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2758C>T	2.37:g.179260239C>T	ENSP00000190611:p.Arg920*	Somatic		Capture	Illumina HiSeq	Phase_I	178968485	NM_145739	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Nonsense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	40	8.353616	0.98774	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3711	15.0969	0.72242	0.1416:0.8584:0.0:0.0	.	.	.	.	X	945;884;889;920;884;924	.	ENSP00000190611:R920X	R	+	1	2	OSBPL6	178968485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.417000	0.44653	2.814000	0.96858	0.563000	0.77884	CGA		0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
PRKRA	8575	broad.mit.edu	37	2	179296845	179296845	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179296845C>A	ENST00000325748.4	-	8	1121	c.921G>T	c.(919-921)aaG>aaT	p.K307N	AC009948.5_ENST00000420672.1_RNA|AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.K194N|AC009948.5_ENST00000415236.1_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.K296N|AC009948.5_ENST00000450044.1_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.K282N|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000454488.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	307	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K307N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CTGCTATTATCTTTAAATACT	0.433																																					p.K296N	Melanoma(200;68 3001 23825 48764)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	2						.						81.0	87.0	85.0					2																	179296845		2203	4300	6503	179005091	SO:0001583	missense	8575	exon7			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.921G>T	2.37:g.179296845C>A	ENSP00000318176:p.Lys307Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179005091	NM_001139517	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436873	0.62955	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.31	3.51	0.40186	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	M	0.80616	2.505	0.46260	D	0.998959	D;P	0.65815	0.995;0.732	D;B	0.66084	0.941;0.372	D	0.87410	0.2375	10	0.87932	D	0	.	7.1455	0.25581	0.0:0.6584:0.0:0.3416	.	307;296	O75569;O75569-2	PRKRA_HUMAN;.	N	307;194;282;296	ENSP00000318176:K307N;ENSP00000398980:K194N;ENSP00000430604:K282N;ENSP00000393883:K296N	ENSP00000318176:K307N	K	-	3	2	PRKRA	179005091	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.050000	0.41297	0.632000	0.30432	0.467000	0.42956	AAG		0.433	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
DFNB59	494513	broad.mit.edu	37	2	179320829	179320829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179320829G>A	ENST00000409117.3	+	4	856	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Missense_Mutation_p.R167Q	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	167					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.R167Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CGAACCACACGACAGTGCTCA	0.458																																					p.R167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	2						.						56.0	57.0	57.0					2																	179320829		2027	4180	6207	179029075	SO:0001583	missense	494513	exon4			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.500G>A	2.37:g.179320829G>A	ENSP00000386647:p.Arg167Gln	Somatic		Capture	Illumina HiSeq	Phase_I	179029075	NM_001042702	A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144843	0.57044	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.16073	2.37;2.37	5.66	5.66	0.87406	.	0.000000	0.31221	U	0.008024	T	0.12092	0.0294	N	0.10945	0.07	0.58432	D	0.999992	P	0.49862	0.929	B	0.44278	0.445	T	0.12066	-1.0562	10	0.08179	T	0.78	-11.1942	20.1041	0.97884	0.0:0.0:1.0:0.0	.	167	Q0ZLH3	PJVK_HUMAN	Q	167	ENSP00000386647:R167Q;ENSP00000364271:R167Q	ENSP00000364271:R167Q	R	+	2	0	DFNB59	179029075	1.000000	0.71417	0.562000	0.28370	0.982000	0.71751	9.768000	0.98965	2.826000	0.97356	0.655000	0.94253	CGA		0.458	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1		
PLEKHA3	65977	broad.mit.edu	37	2	179345621	179345621	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179345621A>G	ENST00000234453.5	+	1	427	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	FKBP7_ENST00000424785.2_5'Flank|FKBP7_ENST00000434643.2_5'Flank|FKBP7_ENST00000464248.1_5'Flank	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	9	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.T9A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTACAAGTGGACCAACTATCT	0.687																																					p.T9A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A25G	2						.						41.0	40.0	40.0					2																	179345621		2203	4300	6503	179053867	SO:0001583	missense	65977	exon1			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.25A>G	2.37:g.179345621A>G	ENSP00000234453:p.Thr9Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179053867	NM_019091	Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242341	0.79912	.	.	ENSG00000116095	ENST00000234453	T	0.76448	-1.02	3.83	3.83	0.44106	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.171014	0.51477	D	0.000088	D	0.83562	0.5281	M	0.92077	3.27	0.80722	D	1	B	0.10296	0.003	B	0.30251	0.113	D	0.84556	0.0647	10	0.87932	D	0	6.2533	12.7934	0.57547	1.0:0.0:0.0:0.0	.	9	Q9HB20	PKHA3_HUMAN	A	9	ENSP00000234453:T9A	ENSP00000234453:T9A	T	+	1	0	PLEKHA3	179053867	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.716000	0.84723	1.593000	0.50029	0.454000	0.30748	ACC		0.687	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
TTN	7273	broad.mit.edu	37	2	179393320	179393320	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179393320G>T	ENST00000591111.1	-	310	102459	c.102235C>A	c.(102235-102237)Ctc>Atc	p.L34079I	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33152I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26847I|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L35720I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26780I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26655I|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34079	Ig-like 151.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L26655I(1)|p.L26847I(1)|p.L33150I(1)|p.L26780I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTAAAGAGAACATTTTGT	0.363																																					p.F26654L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C79962A	2						.						69.0	64.0	66.0					2																	179393320		1919	4124	6043	179101566	SO:0001583	missense	7273	exon188			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102235C>A	2.37:g.179393320G>T	ENSP00000465570:p.Leu34079Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179101566	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.77	2.634094	0.47049	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.56	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29093	0.0723	N	0.22421	0.69	0.23016	N	0.998425	B;B;B;B;B	0.14438	0.01;0.01;0.01;0.01;0.007	B;B;B;B;B	0.17433	0.01;0.01;0.018;0.018;0.014	T	0.21177	-1.0253	9	0.87932	D	0	.	6.733	0.23393	0.1073:0.3391:0.5536:0.0	.	26655;26780;26847;34079;33152	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	I	33152;26655;26847;26780;26652	ENSP00000343764:L33152I;ENSP00000434586:L26655I;ENSP00000340554:L26847I;ENSP00000352154:L26780I	ENSP00000340554:L26847I	L	-	1	0	TTN	179101566	0.922000	0.31269	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.317000	0.45149	0.561000	0.74099	CTC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179400234	179400234	+	Missense_Mutation	SNP	C	C	T	rs576025689		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179400234C>T	ENST00000591111.1	-	308	96409	c.96185G>A	c.(96184-96186)cGa>cAa	p.R32062Q	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31135Q|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24830Q|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33703Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24763Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24638Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32062	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R24830Q(1)|p.R24638Q(1)|p.R24763Q(1)|p.R31133Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAGAATCTCGTGAGACATC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		21126	0.0		0.0	False		,,,				2504	0.001				p.E24638K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G73912A	2						.						83.0	87.0	86.0					2																	179400234		2042	4205	6247	179108480	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96185G>A	2.37:g.179400234C>T	ENSP00000465570:p.Arg32062Gln	Somatic		Capture	Illumina HiSeq	Phase_I	179108480	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.71	3.199648	0.58126	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.59	5.59	0.84812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66386	0.2784	L	0.39085	1.19	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.67764	-0.5586	9	0.87932	D	0	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	24638;24763;24830;32062	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31135;24638;24830;24763;24635	ENSP00000343764:R31135Q;ENSP00000434586:R24638Q;ENSP00000340554:R24830Q;ENSP00000352154:R24763Q	ENSP00000340554:R24830Q	R	-	2	0	TTN	179108480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.788000	0.95919	0.557000	0.71058	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179400321	179400321	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179400321C>A	ENST00000591111.1	-	308	96322	c.96098G>T	c.(96097-96099)aGa>aTa	p.R32033I	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31106I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24801I|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33674I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24734I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24609I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32033	Ig-like 142.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R24609I(1)|p.R24734I(1)|p.R24801I(1)|p.R31104I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCCAAATCTGTTTTTAGC	0.433																																					p.D24609Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G73825T	2						.						117.0	121.0	120.0					2																	179400321		1981	4165	6146	179108567	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96098G>T	2.37:g.179400321C>A	ENSP00000465570:p.Arg32033Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179108567	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.97	2.988653	0.53934	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77532	0.4144	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.78548	-0.2162	9	0.87932	D	0	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	24609;24734;24801;32033	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	31106;24609;24801;24734;24606	ENSP00000343764:R31106I;ENSP00000434586:R24609I;ENSP00000340554:R24801I;ENSP00000352154:R24734I	ENSP00000340554:R24801I	R	-	2	0	TTN	179108567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.788000	0.95919	0.557000	0.71058	AGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179405097	179405097	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179405097G>A	ENST00000591111.1	-	301	93097	c.92873C>T	c.(92872-92874)gCt>gTt	p.A30958V	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.A30031V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.A23726V|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Splice_Site_p.A32599V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.A23659V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.A23534V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30958					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A23726V(1)|p.A23534V(1)|p.A30029V(1)|p.A23659V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGGAGGAGCTGAGAATAA	0.413																																					p.L23534F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C70600T	2						.						94.0	86.0	88.0					2																	179405097		1893	4112	6005	179113343	SO:0001630	splice_region_variant	7273	exon179			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92873-1C>T	2.37:g.179405097G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179113343	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.56	2.870378	0.51588	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.96	5.09	0.68999	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41465	0.1160	N	0.21583	0.68	0.45704	D	0.998615	B;B;B;B	0.13145	0.007;0.007;0.007;0.007	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.29882	-0.9997	9	0.87932	D	0	.	14.9321	0.70923	0.0679:0.0:0.9321:0.0	.	23534;23659;23726;30958	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	30031;23534;23726;23659;23531	ENSP00000343764:A30031V;ENSP00000434586:A23534V;ENSP00000340554:A23726V;ENSP00000352154:A23659V	ENSP00000340554:A23726V	A	-	2	0	TTN	179113343	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.623000	0.67757	1.537000	0.49254	0.655000	0.94253	GCT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179410654	179410654	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179410654G>A	ENST00000591111.1	-	293	90610	c.90386C>T	c.(90385-90387)aCc>aTc	p.T30129I	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29202I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T22897I|TTN_ENST00000589042.1_Missense_Mutation_p.T31770I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T22830I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T22705I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30129	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T22830I(1)|p.T22897I(1)|p.T29200I(1)|p.T22705I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAGCCTGGTAACGACATA	0.483																																					p.P22705S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C68113T	2						.						138.0	130.0	132.0					2																	179410654		1993	4170	6163	179118900	SO:0001583	missense	7273	exon171			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90386C>T	2.37:g.179410654G>A	ENSP00000465570:p.Thr30129Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179118900	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	g	12.80	2.046378	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.82	4.95	0.65309	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76350	0.3975	M	0.77313	2.365	0.37804	D	0.92779	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.69824	0.939;0.939;0.939;0.966	T	0.82739	-0.0308	9	0.87932	D	0	.	16.5326	0.84365	0.0:0.0:0.8681:0.1319	.	22705;22830;22897;30129	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	29202;22705;22897;22830;22702	ENSP00000343764:T29202I;ENSP00000434586:T22705I;ENSP00000340554:T22897I;ENSP00000352154:T22830I	ENSP00000340554:T22897I	T	-	2	0	TTN	179118900	1.000000	0.71417	0.995000	0.50966	0.166000	0.22503	5.625000	0.67770	1.484000	0.48361	-0.216000	0.12614	ACC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179417634	179417634	+	Missense_Mutation	SNP	G	G	A	rs376543931		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179417634G>A	ENST00000591111.1	-	285	85294	c.85070C>T	c.(85069-85071)tCg>tTg	p.S28357L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27430L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21125L|TTN_ENST00000589042.1_Missense_Mutation_p.S29998L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21058L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20933L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28357	Fibronectin type-III 106. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S21058L(1)|p.S20933L(1)|p.S21125L(1)|p.S27428L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGACAAATCTAT	0.408																																					p.R20933W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C62797T	2						.	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,3720		0,0,1860	54.0	53.0	53.0		62798,82289,63173,63374	5.7	1.0	2		53	2,8232		0,2,4115	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	145,145,145,145	0,2,5975	AA,AG,GG		0.0243,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	20933/26927,27430/33424,21058/27052,21125/27119	179417634	2,11952	1860	4117	5977	179125880	SO:0001583	missense	7273	exon163			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85070C>T	2.37:g.179417634G>A	ENSP00000465570:p.Ser28357Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179125880	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.65	2.598201	0.46318	0.0	2.43E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63721	0.2535	L	0.31294	0.92	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67900	0.917;0.917;0.917;0.954	T	0.65582	-0.6133	9	0.87932	D	0	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	20933;21058;21125;28357	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27430;20933;21125;21058;20930	ENSP00000343764:S27430L;ENSP00000434586:S20933L;ENSP00000340554:S21125L;ENSP00000352154:S21058L	ENSP00000340554:S21125L	S	-	2	0	TTN	179125880	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	6.249000	0.72427	2.847000	0.97988	0.655000	0.94253	TCG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179418029	179418029	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179418029T>C	ENST00000591111.1	-	285	84899	c.84675A>G	c.(84673-84675)agA>agG	p.R28225R	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.R27298R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R20993R|TTN_ENST00000589042.1_Silent_p.R29866R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.R20926R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.R20801R|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28225	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R20801R(1)|p.R27296R(1)|p.R20993R(1)|p.R20926R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGGAGGTCTGCCTTTAA	0.443																																					p.D20801G												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.A62402G	2						.						208.0	201.0	203.0					2																	179418029		1950	4156	6106	179126275	SO:0001819	synonymous_variant	7273	exon163			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84675A>G	2.37:g.179418029T>C		Somatic		Capture	Illumina HiSeq	Phase_I	179126275	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179418238	179418238	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179418238C>A	ENST00000591111.1	-	284	84795	c.84571G>T	c.(84571-84573)Gat>Tat	p.D28191Y	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27264Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20959Y|TTN_ENST00000589042.1_Missense_Mutation_p.D29832Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20892Y|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20767Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28191	Fibronectin type-III 105. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D20959Y(1)|p.D20767Y(1)|p.D20892Y(1)|p.D27262Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGTATATCTTTAGCTTGT	0.358																																					p.K20766N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G62298T	2						.						92.0	91.0	91.0					2																	179418238		1844	4091	5935	179126484	SO:0001583	missense	7273	exon162			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84571G>T	2.37:g.179418238C>A	ENSP00000465570:p.Asp28191Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179126484	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.04	3.011440	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.6	5.6	0.85130	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76442	0.3988	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.80652	-0.1287	9	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	20767;20892;20959;28191	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	27264;20767;20959;20892;20764	ENSP00000343764:D27264Y;ENSP00000434586:D20767Y;ENSP00000340554:D20959Y;ENSP00000352154:D20892Y	ENSP00000340554:D20959Y	D	-	1	0	TTN	179126484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GAT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179421854	179421854	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179421854G>A	ENST00000591111.1	-	280	83328	c.83104C>T	c.(83104-83106)Cgt>Tgt	p.R27702C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26775C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20470C|TTN_ENST00000589042.1_Missense_Mutation_p.R29343C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20403C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20278C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27702	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R26773C(1)|p.R20278C(1)|p.R20403C(1)|p.R20470C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTGATACGAACATTTCTT	0.398																																					p.F20277F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C60831T	2						.						47.0	44.0	45.0					2																	179421854		1866	4103	5969	179130100	SO:0001583	missense	7273	exon158			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83104C>T	2.37:g.179421854G>A	ENSP00000465570:p.Arg27702Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179130100	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.24	2.775460	0.49786	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.81	5.81	0.92471	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74344	0.3704	M	0.71920	2.185	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	T	0.75844	-0.3174	9	0.87932	D	0	.	15.1888	0.73025	0.0:0.0:0.8591:0.1409	.	20278;20403;20470;27702	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26775;20278;20470;20403;20275	ENSP00000343764:R26775C;ENSP00000434586:R20278C;ENSP00000340554:R20470C;ENSP00000352154:R20403C	ENSP00000340554:R20470C	R	-	1	0	TTN	179130100	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.446000	0.66600	2.906000	0.99361	0.655000	0.94253	CGT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425064	179425064	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179425064G>A	ENST00000591111.1	-	276	81096	c.80872C>T	c.(80872-80874)Cgt>Tgt	p.R26958C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26031C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19726C|TTN_ENST00000589042.1_Missense_Mutation_p.R28599C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19659C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19534C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26958	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R19659C(1)|p.R19534C(1)|p.R19726C(1)|p.R26029C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTTACACGCACCCATCTT	0.393																																					p.C19533C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C58599T	2						.						97.0	91.0	93.0					2																	179425064		1876	4106	5982	179133310	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80872C>T	2.37:g.179425064G>A	ENSP00000465570:p.Arg26958Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179133310	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.34	2.504832	0.44558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.88	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76744	0.4030	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.82139	-0.0605	9	0.87932	D	0	.	16.6056	0.84827	0.0:0.0:0.8691:0.1309	.	19534;19659;19726;26958	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26031;19534;19726;19659;19531	ENSP00000343764:R26031C;ENSP00000434586:R19534C;ENSP00000340554:R19726C;ENSP00000352154:R19659C	ENSP00000340554:R19726C	R	-	1	0	TTN	179133310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.002000	0.88514	1.462000	0.47948	0.655000	0.94253	CGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425301	179425301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179425301C>A	ENST00000591111.1	-	276	80859	c.80635G>T	c.(80635-80637)Gaa>Taa	p.E26879*	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E25952*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E19647*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E28520*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E19580*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E19455*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26879	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E19455*(1)|p.E19580*(1)|p.E19647*(1)|p.E25950*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATATATATTCATTGCCTTTG	0.388																																					p.M19454I												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G58362T	2						.						49.0	50.0	49.0					2																	179425301		1885	4103	5988	179133547	SO:0001587	stop_gained	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80635G>T	2.37:g.179425301C>A	ENSP00000465570:p.Glu26879*	Somatic		Capture	Illumina HiSeq	Phase_I	179133547	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	66	89.843327	0.99996	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9601	0.97247	0.0:1.0:0.0:0.0	.	.	.	.	X	25952;19455;19647;19580;19452	.	ENSP00000340554:E19647X	E	-	1	0	TTN	179133547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.720000	0.93068	0.655000	0.94253	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427607	179427607	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179427607T>G	ENST00000591111.1	-	276	78553	c.78329A>C	c.(78328-78330)aAt>aCt	p.N26110T	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N25183T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N18878T|TTN_ENST00000589042.1_Missense_Mutation_p.N27751T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N18811T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18686T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26110	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N18686T(1)|p.N25181T(1)|p.N18811T(1)|p.N18878T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGCCACTATTATTTTCTAA	0.413																																					p.I18686L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A56056C	2						.						56.0	54.0	55.0					2																	179427607		1879	4117	5996	179135853	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78329A>C	2.37:g.179427607T>G	ENSP00000465570:p.Asn26110Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179135853	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	9.588	1.125432	0.20959	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43055	0.1230	N	0.03983	-0.305	0.33458	D	0.584566	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.31946	0.138;0.138;0.138;0.138	T	0.50996	-0.8761	9	0.87932	D	0	.	7.3131	0.26485	0.0:0.0903:0.1379:0.7718	.	18686;18811;18878;26110	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25183;18686;18878;18811;18684	ENSP00000343764:N25183T;ENSP00000434586:N18686T;ENSP00000340554:N18878T;ENSP00000352154:N18811T	ENSP00000340554:N18878T	N	-	2	0	TTN	179135853	1.000000	0.71417	0.955000	0.39395	0.982000	0.71751	1.831000	0.39141	0.366000	0.24427	0.459000	0.35465	AAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427755	179427755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179427755G>A	ENST00000591111.1	-	276	78405	c.78181C>T	c.(78181-78183)Cga>Tga	p.R26061*	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R27702*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26061	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGGTCGACCTTTGATA	0.453																																					p.V18636V												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C55908T	2						.						145.0	143.0	144.0					2																	179427755		1941	4129	6070	179136001	SO:0001587	stop_gained	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78181C>T	2.37:g.179427755G>A	ENSP00000465570:p.Arg26061*	Somatic		Capture	Illumina HiSeq	Phase_I	179136001	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	65	86.163190	0.99995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.04	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.7327	0.51746	0.0:0.0:0.4429:0.5571	.	.	.	.	X	25134;18637;18829;18762;18635	.	ENSP00000340554:R18829X	R	-	1	2	TTN	179136001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.655000	0.67981	1.491000	0.48482	0.561000	0.74099	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179429180	179429180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179429180C>A	ENST00000591111.1	-	276	76980	c.76756G>T	c.(76756-76758)Gaa>Taa	p.E25586*	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E24659*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E18354*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27227*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18287*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18162*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25586	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E18162*(1)|p.E24657*(1)|p.E18287*(1)|p.E18354*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCAGTTTCTAATACGTTG	0.383																																					p.X18161Y												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G54483T	2						.						67.0	62.0	63.0					2																	179429180		1849	4101	5950	179137426	SO:0001587	stop_gained	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76756G>T	2.37:g.179429180C>A	ENSP00000465570:p.Glu25586*	Somatic		Capture	Illumina HiSeq	Phase_I	179137426	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	64	83.598558	0.99995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	24659;18162;18354;18287;18160	.	ENSP00000340554:E18354X	E	-	1	0	TTN	179137426	1.000000	0.71417	0.760000	0.31359	0.993000	0.82548	6.079000	0.71291	2.937000	0.99478	0.650000	0.86243	GAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179430273	179430273	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179430273G>A	ENST00000591111.1	-	276	75887	c.75663C>T	c.(75661-75663)agC>agT	p.S25221S	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.S24294S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S17989S|TTN_ENST00000589042.1_Silent_p.S26862S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.S17922S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S17797S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25221	Fibronectin type-III 83. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S24292S(1)|p.S17922S(1)|p.S17797S(1)|p.S17989S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTGGATCGCTTTTTCCTT	0.403																																					p.A17797V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C53390T	2						.						171.0	170.0	170.0					2																	179430273		1871	4104	5975	179138519	SO:0001819	synonymous_variant	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75663C>T	2.37:g.179430273G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179138519	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179434772	179434772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179434772G>A	ENST00000591111.1	-	276	71388	c.71164C>T	c.(71164-71166)Cgc>Tgc	p.R23722C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22795C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16490C|TTN_ENST00000589042.1_Missense_Mutation_p.R25363C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16423C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16298C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23722	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R16490C(2)|p.R22793C(2)|p.R16298C(2)|p.R16423C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCAGGCGCAACTCTCCA	0.433																																					p.C16297C												.	.	7	Substitution - Missense(7)	large_intestine(7)	c.C48891T	2						.						109.0	102.0	104.0					2																	179434772		1946	4143	6089	179143018	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71164C>T	2.37:g.179434772G>A	ENSP00000465570:p.Arg23722Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179143018	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.30	2.195572	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	5.14	0.70334	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76615	0.4012	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.95	T	0.80636	-0.1294	9	0.87932	D	0	.	16.9005	0.86112	0.0:0.0:0.8712:0.1288	.	16298;16423;16490;23722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22795;16298;16490;16423;16296	ENSP00000343764:R22795C;ENSP00000434586:R16298C;ENSP00000340554:R16490C;ENSP00000352154:R16423C	ENSP00000340554:R16490C	R	-	1	0	TTN	179143018	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.766000	0.62279	1.522000	0.49001	0.650000	0.86243	CGC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179435804	179435804	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179435804T>C	ENST00000591111.1	-	276	70356	c.70132A>G	c.(70132-70134)Aca>Gca	p.T23378A	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22451A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16146A|TTN_ENST00000589042.1_Missense_Mutation_p.T25019A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16079A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15954A|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23378	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T16146A(1)|p.T16079A(1)|p.T22449A(1)|p.T15954A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTCCTTGTGACAATGATT	0.478																																					p.S15953S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A47859G	2						.						131.0	135.0	134.0					2																	179435804		1971	4152	6123	179144050	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70132A>G	2.37:g.179435804T>C	ENSP00000465570:p.Thr23378Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179144050	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.76	2.334082	0.41297	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62648	0.2445	M	0.72118	2.19	0.58432	D	0.999999	D;D;D;D	0.63046	0.992;0.992;0.992;0.992	P;P;P;P	0.56042	0.79;0.79;0.79;0.79	T	0.68100	-0.5498	9	0.87932	D	0	.	15.5037	0.75722	0.0:0.0:0.0:1.0	.	15954;16079;16146;23378	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22451;15954;16146;16079;15952	ENSP00000343764:T22451A;ENSP00000434586:T15954A;ENSP00000340554:T16146A;ENSP00000352154:T16079A	ENSP00000340554:T16146A	T	-	1	0	TTN	179144050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.240000	0.72363	2.125000	0.65367	0.528000	0.53228	ACA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179436451	179436451	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179436451A>C	ENST00000591111.1	-	276	69709	c.69485T>G	c.(69484-69486)gTt>gGt	p.V23162G	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22235G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15930G|TTN_ENST00000589042.1_Missense_Mutation_p.V24803G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15863G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15738G|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23162	Ig-like 118.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V15930G(1)|p.V22233G(1)|p.V15863G(1)|p.V15738G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAACGATAACATTAAGGGT	0.438																																					p.L15738V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T47212G	2						.						105.0	102.0	103.0					2																	179436451		1919	4118	6037	179144697	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69485T>G	2.37:g.179436451A>C	ENSP00000465570:p.Val23162Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179144697	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.30	2.195236	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	6.07	6.07	0.98685	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.74099	0.3672	H	0.96805	3.885	0.54753	D	0.999989	P;P;P;P	0.39311	0.667;0.667;0.667;0.667	P;P;P;P	0.48815	0.591;0.591;0.591;0.591	T	0.81705	-0.0811	9	0.87932	D	0	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	15738;15863;15930;23162	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	22235;15738;15930;15863;15736	ENSP00000343764:V22235G;ENSP00000434586:V15738G;ENSP00000340554:V15930G;ENSP00000352154:V15863G	ENSP00000340554:V15930G	V	-	2	0	TTN	179144697	1.000000	0.71417	0.797000	0.32132	0.937000	0.57800	9.281000	0.95811	2.330000	0.79161	0.528000	0.53228	GTT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179453388	179453388	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179453388G>A	ENST00000591111.1	-	254	58365	c.58141C>T	c.(58141-58143)Cgt>Tgt	p.R19381C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18454C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12149C|TTN_ENST00000589042.1_Missense_Mutation_p.R21022C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12082C|TTN_ENST00000460472.2_Missense_Mutation_p.R11957C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19381	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12082C(1)|p.R12149C(1)|p.R18452C(1)|p.R11957C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTCATACGTCTCTCAGGG	0.423																																					p.D11956D												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C35868T	2						.						201.0	189.0	193.0					2																	179453388		1923	4123	6046	179161634	SO:0001583	missense	7273	exon132			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58141C>T	2.37:g.179453388G>A	ENSP00000465570:p.Arg19381Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179161634	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.30	2.197286	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74869	0.3773	L	0.55017	1.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74057	-0.3787	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	11957;12082;12149;19381	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	18454;11957;12149;12082;11955	ENSP00000343764:R18454C;ENSP00000434586:R11957C;ENSP00000340554:R12149C;ENSP00000352154:R12082C	ENSP00000340554:R12149C	R	-	1	0	TTN	179161634	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.803000	0.85983	2.937000	0.99478	0.650000	0.86243	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179457718	179457718	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179457718T>C	ENST00000591111.1	-	250	54429	c.54205A>G	c.(54205-54207)Agc>Ggc	p.S18069G	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17142G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10837G|TTN_ENST00000589042.1_Missense_Mutation_p.S19710G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10770G|TTN_ENST00000460472.2_Missense_Mutation_p.S10645G|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18069	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S10645G(1)|p.S17140G(1)|p.S10770G(1)|p.S10837G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATCTTGCTCCCACCATCA	0.418																																					p.G10644G												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A31932G	2						.						168.0	164.0	165.0					2																	179457718		1917	4132	6049	179165964	SO:0001583	missense	7273	exon128			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54205A>G	2.37:g.179457718T>C	ENSP00000465570:p.Ser18069Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179165964	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.66	2.005757	0.35415	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34337	0.0894	L	0.28400	0.85	0.39410	D	0.966745	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.31558	-0.9939	9	0.87932	D	0	.	6.588	0.22632	0.0:0.1802:0.0:0.8198	.	10645;10770;10837;18069	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	17142;10645;10837;10770;10643	ENSP00000343764:S17142G;ENSP00000434586:S10645G;ENSP00000340554:S10837G;ENSP00000352154:S10770G	ENSP00000340554:S10837G	S	-	1	0	TTN	179165964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.081000	0.71309	2.367000	0.80283	0.528000	0.53228	AGC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179466483	179466483	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179466483A>C	ENST00000591111.1	-	236	50635	c.50411T>G	c.(50410-50412)aTt>aGt	p.I16804S	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I15877S|TTN_ENST00000342175.6_Missense_Mutation_p.I9572S|TTN_ENST00000589042.1_Missense_Mutation_p.I18445S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9505S|TTN_ENST00000460472.2_Missense_Mutation_p.I9380S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16804	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15877S(1)|p.I9380S(1)|p.I9505S(1)|p.I9572S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCGGAATAATAATTACTGA	0.368																																					p.I9380S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T28139G	2						.						107.0	97.0	100.0					2																	179466483		1823	4081	5904	179174728	SO:0001583	missense	7273	exon114			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50411T>G	2.37:g.179466483A>C	ENSP00000465570:p.Ile16804Ser	Somatic		Capture	Illumina HiSeq	Phase_I	179174728	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.385	1.073914	0.20147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54581	0.1867	N	0.25060	0.705	0.27019	N	0.964518	B;B;B;B	0.20164	0.042;0.042;0.042;0.042	B;B;B;B	0.28385	0.089;0.089;0.089;0.089	T	0.52283	-0.8596	9	0.87932	D	0	.	8.5544	0.33471	0.8564:0.0:0.1436:0.0	.	9380;9505;9572;16804	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	15877;9380;9572;9505;9380	ENSP00000343764:I15877S;ENSP00000434586:I9380S;ENSP00000340554:I9572S;ENSP00000352154:I9505S	ENSP00000340554:I9572S	I	-	2	0	TTN	179174728	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	2.541000	0.45735	2.216000	0.71823	0.460000	0.39030	ATT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179477096	179477096	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179477096G>T	ENST00000591111.1	-	216	45457	c.45233C>A	c.(45232-45234)tCt>tAt	p.S15078Y	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14151Y|TTN_ENST00000342175.6_Missense_Mutation_p.S7846Y|TTN_ENST00000589042.1_Missense_Mutation_p.S16719Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7779Y|TTN_ENST00000460472.2_Missense_Mutation_p.S7654Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15078	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S7779Y(1)|p.S14151Y(1)|p.S7846Y(1)|p.S7654Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATATAAAGAGCCCTCAGT	0.483																																					p.S7654Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C22961A	2						.						88.0	85.0	86.0					2																	179477096		1953	4137	6090	179185341	SO:0001583	missense	7273	exon94			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45233C>A	2.37:g.179477096G>T	ENSP00000465570:p.Ser15078Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179185341	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.68	2.310864	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.71	5.71	0.89125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77624	0.4158	M	0.83852	2.665	0.58432	D	0.999996	P;P;P;D	0.56287	0.928;0.928;0.928;0.975	P;P;P;P	0.60886	0.814;0.814;0.814;0.88	T	0.80216	-0.1474	9	0.87932	D	0	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	7654;7779;7846;15078	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	14151;7654;7846;7779;7654	ENSP00000343764:S14151Y;ENSP00000434586:S7654Y;ENSP00000340554:S7846Y;ENSP00000352154:S7779Y	ENSP00000340554:S7846Y	S	-	2	0	TTN	179185341	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.807000	0.99171	2.697000	0.92050	0.563000	0.77884	TCT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179486022	179486022	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179486022G>A	ENST00000591111.1	-	196	40724	c.40500C>T	c.(40498-40500)tgC>tgT	p.C13500C	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.C12573C|TTN_ENST00000342175.6_Silent_p.C6268C|TTN_ENST00000589042.1_Silent_p.C15141C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Silent_p.C6201C|TTN_ENST00000460472.2_Silent_p.C6076C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13500	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C6268C(1)|p.C6076C(1)|p.C6201C(1)|p.C12573C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATATAGAGCAGACAAATT	0.373																																					p.C6076C												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C18228T	2						.						118.0	102.0	107.0					2																	179486022		1833	4073	5906	179194267	SO:0001819	synonymous_variant	7273	exon74			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40500C>T	2.37:g.179486022G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179194267	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179542486	179542486	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179542486G>A	ENST00000591111.1	-	144	33426	c.33202C>T	c.(33202-33204)Cta>Tta	p.L11068L	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L10141L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.L11385L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10203	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L10141L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAGGTAGAACTTCCTCT	0.423																																					p.L10141L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30421T	2						.						126.0	126.0	126.0					2																	179542486		1858	4084	5942	179250731	SO:0001819	synonymous_variant	7273	exon143			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33202C>T	2.37:g.179542486G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179250731	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179578745	179578745	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179578745G>T	ENST00000591111.1	-	90	25913	c.25689C>A	c.(25687-25689)ttC>ttA	p.F8563L	TTN_ENST00000342992.6_Missense_Mutation_p.F7636L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F8880L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12727	Ig-like 68.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F7636L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGTTGAAGAAGCTTATTT	0.443																																					p.F7636L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22908A	2						.						174.0	163.0	166.0					2																	179578745		1890	4127	6017	179286990	SO:0001583	missense	7273	exon89			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25689C>A	2.37:g.179578745G>T	ENSP00000465570:p.Phe8563Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179286990	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.20	2.463777	0.43736	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.86	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68192	0.2974	L	0.33293	1	0.80722	D	1	D	0.61080	0.989	P	0.57101	0.813	T	0.72316	-0.4330	9	0.87932	D	0	.	13.1441	0.59450	0.1317:0.0:0.8683:0.0	.	8563	Q8WZ42	TITIN_HUMAN	L	7636	ENSP00000343764:F7636L	ENSP00000343764:F7636L	F	-	3	2	TTN	179286990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.926000	0.40084	1.490000	0.48466	-0.137000	0.14449	TTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179582848	179582848	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179582848A>C	ENST00000591111.1	-	84	24158	c.23934T>G	c.(23932-23934)atT>atG	p.I7978M	TTN_ENST00000342992.6_Missense_Mutation_p.I7051M|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I8295M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12169	Ig-like 62.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I7051M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACCAAGAAATTCTAATTT	0.378																																					p.I7051M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T21153G	2						.						123.0	114.0	117.0					2																	179582848		1855	4108	5963	179291093	SO:0001583	missense	7273	exon83			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23934T>G	2.37:g.179582848A>C	ENSP00000465570:p.Ile7978Met	Somatic		Capture	Illumina HiSeq	Phase_I	179291093	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	7.749	0.702902	0.15172	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	6.16	0.793	0.18632	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66317	0.2777	M	0.68593	2.085	0.80722	D	1	P	0.38110	0.618	B	0.44224	0.444	T	0.63800	-0.6555	9	0.87932	D	0	.	1.0627	0.01604	0.4861:0.1351:0.1369:0.2419	.	7978	Q8WZ42	TITIN_HUMAN	M	7051	ENSP00000343764:I7051M	ENSP00000343764:I7051M	I	-	3	3	TTN	179291093	0.628000	0.27138	0.996000	0.52242	0.969000	0.65631	-0.046000	0.11983	0.196000	0.20367	-0.341000	0.08007	ATT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179583913	179583913	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179583913G>A	ENST00000591111.1	-	81	23477	c.23253C>T	c.(23251-23253)tgC>tgT	p.C7751C	TTN_ENST00000342992.6_Silent_p.C6824C|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.C8068C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13294	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C6824C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTGCTGAGCACTCATCGG	0.512																																					p.C6824C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C20472T	2						.						59.0	63.0	62.0					2																	179583913		2117	4230	6347	179292158	SO:0001819	synonymous_variant	7273	exon80			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23253C>T	2.37:g.179583913G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179292158	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179585141	179585141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179585141T>C	ENST00000591111.1	-	78	22621	c.22397A>G	c.(22396-22398)gAc>gGc	p.D7466G	TTN_ENST00000342992.6_Missense_Mutation_p.D6539G|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D7783G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13021	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D6539G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACACGTGTCACTTCCCAC	0.393																																					p.D6539G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A19616G	2						.						150.0	141.0	144.0					2																	179585141		1902	4125	6027	179293386	SO:0001583	missense	7273	exon77			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22397A>G	2.37:g.179585141T>C	ENSP00000465570:p.Asp7466Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179293386	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.23	1.293110	0.23564	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76821	0.4041	M	0.81802	2.56	0.80722	D	1	P	0.45594	0.862	P	0.48982	0.597	T	0.80643	-0.1291	9	0.87932	D	0	.	16.3364	0.83064	0.0:0.0:0.0:1.0	.	7466	Q8WZ42	TITIN_HUMAN	G	6539	ENSP00000343764:D6539G	ENSP00000343764:D6539G	D	-	2	0	TTN	179293386	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.027000	0.41078	2.252000	0.74401	0.528000	0.53228	GAC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179585761	179585761	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179585761G>T	ENST00000591111.1	-	77	22258	c.22034C>A	c.(22033-22035)tCt>tAt	p.S7345Y	TTN_ENST00000342992.6_Missense_Mutation_p.S6418Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S7662Y|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12908	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S6418Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGCCACAGAATTAATGAA	0.438																																					p.S6418Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19253A	2						.						117.0	115.0	116.0					2																	179585761		1965	4171	6136	179294006	SO:0001583	missense	7273	exon76			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22034C>A	2.37:g.179585761G>T	ENSP00000465570:p.Ser7345Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179294006	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.72	1.430485	0.25726	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80449	0.4625	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79729	-0.1681	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	7345	Q8WZ42	TITIN_HUMAN	Y	6418	ENSP00000343764:S6418Y	ENSP00000343764:S6418Y	S	-	2	0	TTN	179294006	1.000000	0.71417	0.626000	0.29213	0.795000	0.44927	4.353000	0.59411	2.937000	0.99478	0.650000	0.86243	TCT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179585899	179585899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179585899G>A	ENST00000591111.1	-	77	22120	c.21896C>T	c.(21895-21897)gCt>gTt	p.A7299V	TTN_ENST00000342992.6_Missense_Mutation_p.A6372V|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7616V|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12863	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A6372V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTTTGAAGCTTCTAATTT	0.353																																					p.A6372V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19115T	2						.						52.0	48.0	49.0					2																	179585899		1799	4068	5867	179294144	SO:0001583	missense	7273	exon76			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21896C>T	2.37:g.179585899G>A	ENSP00000465570:p.Ala7299Val	Somatic		Capture	Illumina HiSeq	Phase_I	179294144	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.12	2.441832	0.43326	.	.	ENSG00000155657	ENST00000342992	T	0.40476	1.03	6.16	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41465	0.1160	L	0.49126	1.545	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.30001	-0.9993	9	0.87932	D	0	.	15.6785	0.77349	0.0653:0.0:0.9347:0.0	.	7299	Q8WZ42	TITIN_HUMAN	V	6372	ENSP00000343764:A6372V	ENSP00000343764:A6372V	A	-	2	0	TTN	179294144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.283000	0.58977	1.621000	0.50320	0.650000	0.86243	GCT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179589143	179589143	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179589143G>T	ENST00000591111.1	-	70	20232	c.20008C>A	c.(20008-20010)Ctg>Atg	p.L6670M	TTN_ENST00000342992.6_Missense_Mutation_p.L5743M|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L6987M|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12271	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L5743M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTCAACAGCTTTCCATCC	0.468																																					p.L5743M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17227A	2						.						95.0	91.0	92.0					2																	179589143		1948	4147	6095	179297388	SO:0001583	missense	7273	exon69			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20008C>A	2.37:g.179589143G>T	ENSP00000465570:p.Leu6670Met	Somatic		Capture	Illumina HiSeq	Phase_I	179297388	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.03	1.814686	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	6.02	1.59	0.23543	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71239	0.3316	M	0.65975	2.015	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.69427	-0.5148	9	0.87932	D	0	.	5.5338	0.16999	0.404:0.258:0.338:0.0	.	6670	Q8WZ42	TITIN_HUMAN	M	5743	ENSP00000343764:L5743M	ENSP00000343764:L5743M	L	-	1	2	TTN	179297388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.483000	0.45233	0.394000	0.25230	0.655000	0.94253	CTG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179590588	179590588	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179590588G>T	ENST00000591111.1	-	68	19734	c.19510C>A	c.(19510-19512)Ctc>Atc	p.L6504I	TTN_ENST00000342992.6_Missense_Mutation_p.L5577I|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L6821I|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12105	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L5577I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACATTGAGAATGTGAATA	0.403																																					p.L5577I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16729A	2						.						143.0	134.0	137.0					2																	179590588		1883	4140	6023	179298833	SO:0001583	missense	7273	exon67			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19510C>A	2.37:g.179590588G>T	ENSP00000465570:p.Leu6504Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179298833	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.689	0.906932	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.72	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60894	0.2304	L	0.28649	0.875	0.80722	D	1	B	0.28998	0.23	B	0.40066	0.318	T	0.64956	-0.6285	9	0.87932	D	0	.	11.5396	0.50659	0.1849:0.0:0.8151:0.0	.	6504	Q8WZ42	TITIN_HUMAN	I	5577	ENSP00000343764:L5577I	ENSP00000343764:L5577I	L	-	1	0	TTN	179298833	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	3.752000	0.55172	1.562000	0.49601	0.655000	0.94253	CTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179595362	179595362	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179595362T>G	ENST00000591111.1	-	59	17171	c.16947A>C	c.(16945-16947)aaA>aaC	p.K5649N	TTN_ENST00000342992.6_Missense_Mutation_p.K4722N|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5966N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12458	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K4722N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAAGAGAATTTGTACTTTT	0.418																																					p.K4722N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A14166C	2						.						115.0	112.0	113.0					2																	179595362		1889	4123	6012	179303607	SO:0001583	missense	7273	exon58			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16947A>C	2.37:g.179595362T>G	ENSP00000465570:p.Lys5649Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179303607	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	9.772	1.173001	0.21704	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.99	1.2	0.21068	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74966	0.3786	L	0.58428	1.81	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.74788	-0.3546	9	0.87932	D	0	.	10.0175	0.42022	0.0:0.3126:0.0:0.6874	.	5649	Q8WZ42	TITIN_HUMAN	N	4722	ENSP00000343764:K4722N	ENSP00000343764:K4722N	K	-	3	2	TTN	179303607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.455000	0.35190	0.523000	0.28482	0.533000	0.62120	AAA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179595718	179595718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179595718C>A	ENST00000591111.1	-	58	16947	c.16723G>T	c.(16723-16725)Gaa>Taa	p.E5575*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E4648*|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E5892*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12392	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4648*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTATATTCTCCACTATCT	0.393																																					p.E4648X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G13942T	2						.						184.0	182.0	183.0					2																	179595718		1868	4100	5968	179303963	SO:0001587	stop_gained	7273	exon57			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16723G>T	2.37:g.179595718C>A	ENSP00000465570:p.Glu5575*	Somatic		Capture	Illumina HiSeq	Phase_I	179303963	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	56	25.497529	0.99965	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	4648	.	ENSP00000343764:E4648X	E	-	1	0	TTN	179303963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.074000	0.71253	2.771000	0.95319	0.563000	0.77884	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179599471	179599471	+	Silent	SNP	G	G	A	rs376217206		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179599471G>A	ENST00000591111.1	-	49	14453	c.14229C>T	c.(14227-14229)gtC>gtT	p.V4743V	TTN_ENST00000342992.6_Silent_p.V3816V|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.V5060V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12123	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V3816V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCACTGCCGACGTCATTCA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0				p.V3816V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11448T	2						.	G	,,,	2,3742		0,2,1870	150.0	146.0	147.0		,11448,,	-11.3	0.1	2		147	0,8228		0,0,4114	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5984	AA,AG,GG		0.0,0.0534,0.0167	,,,	,3816/33424,,	179599471	2,11970	1872	4114	5986	179307716	SO:0001819	synonymous_variant	7273	exon48			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14229C>T	2.37:g.179599471G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179307716	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179613495	179613495	+	Intron	SNP	G	G	A	rs146750710	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179613495G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.D4544D|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D4544D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGTGCGTCAAATTCTT	0.328													G|||	3	0.000599042	0.0	0.0	5008	,	,		19316	0.003		0.0	False		,,,				2504	0.0				p.D4544D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13632T	2						.	G	,,,,	0,4404		0,0,2202	94.0	95.0	95.0		,,13632,,	4.5	0.2	2	dbSNP_134	95	1,8591	1.2+/-3.3	0,1,4295	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,4544/5605,,	179613495	1,12995	2202	4296	6498	179321740	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4355C>T	2.37:g.179613495G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179321740	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615272	179615272	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179615272G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S3952Y|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S3952Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCTTGAGATTCAATTTC	0.363																																					p.S3952Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11855A	2						.						36.0	37.0	36.0					2																	179615272		2203	4296	6499	179323517	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2578C>A	2.37:g.179615272G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179323517	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.101607	0.76983	.	.	ENSG00000155657	ENST00000360870	T	0.46451	0.87	5.55	5.55	0.83447	.	.	.	.	.	T	0.69006	0.3063	M	0.87758	2.905	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.72541	-0.4262	9	0.54805	T	0.06	.	19.861	0.96785	0.0:0.0:1.0:0.0	.	3952	Q8WZ42-6	.	Y	3952	ENSP00000354117:S3952Y	ENSP00000354117:S3952Y	S	-	2	0	TTN	179323517	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.832000	0.69337	2.767000	0.95098	0.655000	0.94253	TCT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179621225	179621225	+	Intron	SNP	G	G	A	rs375986676		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179621225G>A	ENST00000591111.1	-	44	10528				TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3489S|TTN_ENST00000589042.1_Missense_Mutation_p.P3660S|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P3489S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATCTTGGGCGCCTCACCC	0.443																																					p.P3489S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10465T	2						.	G	,,,,SER/PRO	0,3882		0,0,1941	96.0	93.0	94.0		,,,,10465	3.4	0.0	2		94	1,8275		0,1,4137	no	intron,intron,intron,intron,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,74	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	,,,,	,,,,3489/27119	179621225	1,12157	1941	4138	6079	179329470	SO:0001627	intron_variant	7273	exon44			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2485C>T	2.37:g.179621225G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179329470	NM_133437	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765970	0.31228	0.0	1.21E-4	ENSG00000155657	ENST00000342175	T	0.80909	-1.43	6.17	3.41	0.39046	.	.	.	.	.	T	0.74435	0.3716	.	.	.	0.21697	N	0.99959	B	0.24043	0.096	B	0.27608	0.081	T	0.65569	-0.6136	8	0.87932	D	0	.	9.5519	0.39315	0.1274:0.1187:0.7539:0.0	.	3489	E7ET18	.	S	3489	ENSP00000340554:P3489S	ENSP00000340554:P3489S	P	-	1	0	TTN	179329470	0.972000	0.33761	0.000000	0.03702	0.094000	0.18550	2.894000	0.48640	0.475000	0.27415	0.655000	0.94253	CCC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179643789	179643789	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179643789G>T	ENST00000591111.1	-	24	4244	c.4020C>A	c.(4018-4020)gaC>gaA	p.D1340E	TTN_ENST00000342992.6_Missense_Mutation_p.D1340E|TTN_ENST00000342175.6_Missense_Mutation_p.D1294E|TTN_ENST00000589042.1_Missense_Mutation_p.D1340E|TTN_ENST00000359218.5_Missense_Mutation_p.D1294E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D1340E|TTN_ENST00000460472.2_Missense_Mutation_p.D1294E			Q8WZ42	TITIN_HUMAN	titin	33537	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D1294E(3)|p.D1340E(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTAGAAAGTCCATTTGGT	0.378																																					p.D1294E												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C3882A	2						.						135.0	119.0	124.0					2																	179643789		2203	4300	6503	179352034	SO:0001583	missense	7273	exon23			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4020C>A	2.37:g.179643789G>T	ENSP00000465570:p.Asp1340Glu	Somatic		Capture	Illumina HiSeq	Phase_I	179352034	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.38	2.218750	0.39201	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.72	-3.14	0.05250	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26593	0.0650	N	0.01679	-0.765	0.21256	N	0.999743	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003	T	0.13495	-1.0507	9	0.87932	D	0	.	1.2018	0.01886	0.2073:0.1631:0.185:0.4446	.	1294;1294;1294;1340;1340	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	1340;1294;1294;1294;1294;1340	ENSP00000343764:D1340E;ENSP00000434586:D1294E;ENSP00000340554:D1294E;ENSP00000352154:D1294E;ENSP00000354117:D1340E	ENSP00000340554:D1294E	D	-	3	2	TTN	179352034	0.552000	0.26505	0.975000	0.42487	0.991000	0.79684	-0.160000	0.10041	-0.566000	0.06054	-0.136000	0.14681	GAC		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179647100	179647100	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179647100T>A	ENST00000591111.1	-	20	3443	c.3219A>T	c.(3217-3219)caA>caT	p.Q1073H	TTN_ENST00000342992.6_Missense_Mutation_p.Q1073H|TTN_ENST00000342175.6_Missense_Mutation_p.Q1027H|TTN_ENST00000589042.1_Missense_Mutation_p.Q1073H|TTN_ENST00000359218.5_Missense_Mutation_p.Q1027H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q1073H|TTN_ENST00000460472.2_Missense_Mutation_p.Q1027H			Q8WZ42	TITIN_HUMAN	titin	32615					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q1027H(3)|p.Q1073H(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCCCTGCTTGTTCCTCTG	0.498																																					p.Q1027H												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.A3081T	2						.						52.0	55.0	54.0					2																	179647100		2203	4300	6503	179355345	SO:0001583	missense	7273	exon19			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3219A>T	2.37:g.179647100T>A	ENSP00000465570:p.Gln1073His	Somatic		Capture	Illumina HiSeq	Phase_I	179355345	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.21	1.870194	0.33069	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63417	-0.04;0.19;0.19;0.19;0.38	5.6	-0.234	0.13074	Ribonuclease H-like (1);	.	.	.	.	T	0.39835	0.1093	N	0.19112	0.55	0.19945	N	0.999947	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.32693	-0.9897	9	0.87932	D	0	.	1.4634	0.02401	0.1225:0.174:0.2458:0.4577	.	1027;1027;1027;1073;1073	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1073;1027;1027;1027;1027;1073	ENSP00000343764:Q1073H;ENSP00000434586:Q1027H;ENSP00000340554:Q1027H;ENSP00000352154:Q1027H;ENSP00000354117:Q1073H	ENSP00000340554:Q1027H	Q	-	3	2	TTN	179355345	0.231000	0.23751	0.961000	0.40146	0.988000	0.76386	0.541000	0.23207	0.082000	0.17018	0.528000	0.53228	CAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179659916	179659916	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179659916G>T	ENST00000591111.1	-	7	1202	c.978C>A	c.(976-978)ctC>ctA	p.L326L	TTN_ENST00000342992.6_Silent_p.L326L|TTN_ENST00000342175.6_Silent_p.L326L|TTN_ENST00000589042.1_Silent_p.L326L|TTN_ENST00000359218.5_Silent_p.L326L|TTN_ENST00000360870.5_Silent_p.L326L|TTN_ENST00000460472.2_Silent_p.L326L			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L326L(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTACGCATGAGCAATGGAG	0.547																																					p.L326L												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C978A	2						.						101.0	92.0	95.0					2																	179659916		2203	4300	6503	179368161	SO:0001819	synonymous_variant	7273	exon7			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.978C>A	2.37:g.179659916G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179368161	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
KCNS3	3790	broad.mit.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	G	A	rs150320186		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:18113665G>A	ENST00000403915.1	+	3	1841	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.D464N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	464					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.D464N(3)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453																																					p.D464N												.	.	3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|kidney(1)	c.G1390A	2						.	G	ASN/ASP	0,4406		0,0,2203	123.0	112.0	116.0		1390	5.2	0.4	2	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNS3	NM_002252.3	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	464/492	18113665	2,13004	2203	4300	6503	17977146	SO:0001583	missense	3790	exon3			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1390G>A	2.37:g.18113665G>A	ENSP00000385968:p.Asp464Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17977146	NM_002252	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	4.513	0.095252	0.08681	0.0	2.33E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97138	-4.26;-4.26	6.07	5.19	0.71726	.	0.658090	0.16144	N	0.227590	D	0.93602	0.7957	N	0.22421	0.69	0.43803	D	0.996355	B	0.10296	0.003	B	0.04013	0.001	D	0.89831	0.3996	10	0.38643	T	0.18	.	15.2363	0.73432	0.0669:0.0:0.9331:0.0	.	464	Q9BQ31	KCNS3_HUMAN	N	464	ENSP00000385968:D464N;ENSP00000305824:D464N	ENSP00000305824:D464N	D	+	1	0	KCNS3	17977146	0.870000	0.30015	0.420000	0.26596	0.987000	0.75469	2.980000	0.49321	1.578000	0.49821	0.655000	0.94253	GAT		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252	
CCDC141	285025	broad.mit.edu	37	2	179736952	179736952	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179736952G>T	ENST00000420890.2	-	13	2104	c.1987C>A	c.(1987-1989)Ctt>Att	p.L663I	CCDC141_ENST00000295723.5_Missense_Mutation_p.L88I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	663								p.L663I(1)|p.L88I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGAGGCTAAGTTCTTCCCGT	0.443																																					p.L663I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1987A	2						.						162.0	137.0	145.0					2																	179736952		2203	4300	6503	179445197	SO:0001583	missense	285025	exon13			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1987C>A	2.37:g.179736952G>T	ENSP00000395995:p.Leu663Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179445197	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	13.07	2.126884	0.37533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.56611	0.45;1.12;1.11;1.12	5.51	3.7	0.42460	.	0.000000	0.44097	D	0.000498	T	0.55970	0.1954	L	0.34521	1.04	0.23126	N	0.998253	D	0.69078	0.997	D	0.67103	0.949	T	0.42732	-0.9434	10	0.40728	T	0.16	-5.9028	9.0127	0.36150	0.1766:0.0:0.8234:0.0	.	88	Q6ZP82	CC141_HUMAN	I	663;107;88;663;598	ENSP00000395995:L663I;ENSP00000344627:L107I;ENSP00000295723:L88I;ENSP00000390190:L663I	ENSP00000295723:L88I	L	-	1	0	CCDC141	179445197	0.998000	0.40836	0.826000	0.32828	0.507000	0.33981	2.489000	0.45285	1.322000	0.45245	0.558000	0.71614	CTT		0.443	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CWC22	57703	broad.mit.edu	37	2	180809949	180809949	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:180809949T>C	ENST00000410053.3	-	20	2933	c.2634A>G	c.(2632-2634)cgA>cgG	p.R878R	CWC22_ENST00000295749.6_Silent_p.R878R	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	878					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R878R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ATTTTTCCCATCGTCTCTCGG	0.368																																					p.R878R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2634G	2						.						141.0	125.0	130.0					2																	180809949		1838	4095	5933	180518194	SO:0001819	synonymous_variant	57703	exon20				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2634A>G	2.37:g.180809949T>C		Somatic		Capture	Illumina HiSeq	Phase_I	180518194	NM_020943	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	CCDS46465.1																																																																																				0.368	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
CWC22	57703	broad.mit.edu	37	2	180838374	180838374	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:180838374C>T	ENST00000410053.3	-	7	1036	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	246	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R246Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTCATTTCTTCGATAGCCTTT	0.313																																					p.R246Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	2						.						45.0	40.0	41.0					2																	180838374		1829	4079	5908	180546619	SO:0001583	missense	57703	exon7				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.737G>A	2.37:g.180838374C>T	ENSP00000387006:p.Arg246Gln	Somatic		Capture	Illumina HiSeq	Phase_I	180546619	NM_020943	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526820	0.85706	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.21932	1.98;1.98;1.98	5.74	4.87	0.63330	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.58969	1.84	0.58432	D	0.999998	P	0.51057	0.941	B	0.39531	0.302	T	0.04413	-1.0953	10	0.66056	D	0.02	-2.7385	13.8224	0.63331	0.0:0.9266:0.0:0.0734	.	246	Q9HCG8	CWC22_HUMAN	Q	246	ENSP00000387006:R246Q;ENSP00000295749:R246Q;ENSP00000384159:R246Q	ENSP00000295749:R246Q	R	-	2	0	CWC22	180546619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.650000	0.83521	1.433000	0.47394	-0.142000	0.14014	CGA		0.313	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
ITGA4	3676	broad.mit.edu	37	2	182387013	182387013	+	Missense_Mutation	SNP	C	C	T	rs199911081		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:182387013C>T	ENST00000397033.2	+	18	2448	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	673					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.T673M(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCATATGAAACGACTCTACAT	0.358																																					p.T673M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2018T	2						.						188.0	174.0	178.0					2																	182387013		1868	4112	5980	182095258	SO:0001583	missense	3676	exon18				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2018C>T	2.37:g.182387013C>T	ENSP00000380227:p.Thr673Met	Somatic		Capture	Illumina HiSeq	Phase_I	182095258	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294625	0.60086	.	.	ENSG00000115232	ENST00000397033	T	0.59083	0.29	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.047394	0.85682	D	0.000000	T	0.75708	0.3886	M	0.66939	2.045	0.45087	D	0.998107	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.77146	-0.2695	10	0.87932	D	0	.	19.7656	0.96337	0.0:1.0:0.0:0.0	.	495;673	Q59H74;P13612	.;ITA4_HUMAN	M	673	ENSP00000380227:T673M	ENSP00000380227:T673M	T	+	2	0	ITGA4	182095258	1.000000	0.71417	0.086000	0.20670	0.413000	0.31143	5.677000	0.68142	2.669000	0.90835	0.585000	0.79938	ACG		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
MYT1L	23040	broad.mit.edu	37	2	1843074	1843074	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:1843074G>A	ENST00000399161.2	-	21	3674	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	MYT1L_ENST00000428368.2_Missense_Mutation_p.S974F|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	976					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S976F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGGCACCCGGAGGCGCTGCG	0.637																																					p.S974F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2921T	2						.						47.0	55.0	52.0					2																	1843074		2017	4147	6164	1822081	SO:0001583	missense	23040	exon21			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2927C>T	2.37:g.1843074G>A	ENSP00000382114:p.Ser976Phe	Somatic		Capture	Illumina HiSeq	Phase_I	1822081	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.490886	0.84962	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.53640	0.62;0.61	5.76	4.89	0.63831	.	0.055071	0.85682	N	0.000000	T	0.67674	0.2918	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72040	-0.4410	10	0.87932	D	0	-19.5346	14.7201	0.69300	0.0695:0.0:0.9304:0.0	.	976;974	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	F	976;922;30;974	ENSP00000382114:S976F;ENSP00000396103:S974F	ENSP00000295067:S922F	S	-	2	0	MYT1L	1822081	1.000000	0.71417	0.510000	0.27712	0.783000	0.44284	7.824000	0.86668	1.435000	0.47434	0.563000	0.77884	TCC		0.637	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:182396419C>A	ENST00000397033.2	+	25	3130	c.2700C>A	c.(2698-2700)ttC>ttA	p.F900L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	900					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F900L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTTTAAATTTCTTGTGTAATT	0.308																																					p.F900L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2700A	2						.						72.0	71.0	72.0					2																	182396419		1806	4068	5874	182104664	SO:0001583	missense	3676	exon25				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2700C>A	2.37:g.182396419C>A	ENSP00000380227:p.Phe900Leu	Somatic		Capture	Illumina HiSeq	Phase_I	182104664	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	5.635	0.301923	0.10678	.	.	ENSG00000115232	ENST00000397033	T	0.41758	0.99	5.49	0.919	0.19392	.	0.612109	0.18211	N	0.148185	T	0.24353	0.0590	L	0.31207	0.915	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12218	-1.0556	10	0.42905	T	0.14	.	2.8641	0.05595	0.1262:0.4933:0.1238:0.2568	.	900	P13612	ITA4_HUMAN	L	900	ENSP00000380227:F900L	ENSP00000380227:F900L	F	+	3	2	ITGA4	182104664	0.004000	0.15560	0.004000	0.12327	0.617000	0.37484	-0.023000	0.12456	0.240000	0.21263	0.557000	0.71058	TTC		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
SSFA2	6744	broad.mit.edu	37	2	182780761	182780761	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:182780761G>A	ENST00000431877.2	+	11	2573	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S	SSFA2_ENST00000320370.7_Silent_p.S798S|SSFA2_ENST00000409001.1_Silent_p.S798S|SSFA2_ENST00000428267.2_Silent_p.S645S|SSFA2_ENST00000409136.1_Silent_p.S307S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	798						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S798S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTTAAATCGACCATTTTCA	0.498																																					p.S798S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2394A	2						.						62.0	61.0	61.0					2																	182780761		2203	4300	6503	182489006	SO:0001819	synonymous_variant	6744	exon11			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2394G>A	2.37:g.182780761G>A		Somatic		Capture	Illumina HiSeq	Phase_I	182489006	NM_006751	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	CCDS46467.1																																																																																				0.498	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
PPP1R1C	151242	broad.mit.edu	37	2	182981984	182981984	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:182981984G>T	ENST00000409137.3	+	5	535	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	PPP1R1C_ENST00000280295.3_Nonsense_Mutation_p.E105*|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Nonsense_Mutation_p.E98*|PPP1R1C_ENST00000452904.1_Nonsense_Mutation_p.E98*	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	98					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.E98*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TGAAGAAGAAGAAGGCACCAA	0.363																																					p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	2						.						48.0	51.0	50.0					2																	182981984		1892	4103	5995	182690229	SO:0001587	stop_gained	151242	exon5			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.292G>T	2.37:g.182981984G>T	ENSP00000386359:p.Glu98*	Somatic		Capture	Illumina HiSeq	Phase_I	182690229	NM_001080545	Q5HYJ5|Q8TD54	Nonsense_Mutation	SNP	ENST00000409137.3	37	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024208	0.75390	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	.	.	.	5.86	5.86	0.93980	.	0.155265	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.2804	0.87127	0.0:0.0:1.0:0.0	.	.	.	.	X	98;98;105;98	.	ENSP00000280295:E105X	E	+	1	0	PPP1R1C	182690229	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	6.276000	0.72601	2.937000	0.99478	0.650000	0.86243	GAA		0.363	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545	
NCKAP1	10787	broad.mit.edu	37	2	183800095	183800095	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:183800095T>C	ENST00000361354.4	-	25	3076	c.2704A>G	c.(2704-2706)Agt>Ggt	p.S902G	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.S908G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	902					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.S908G(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCAAGACACTGTCAACAGCT	0.308																																					p.S908G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2722G	2						.						93.0	88.0	89.0					2																	183800095		2203	4298	6501	183508340	SO:0001583	missense	10787	exon26			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2704A>G	2.37:g.183800095T>C	ENSP00000355348:p.Ser902Gly	Somatic		Capture	Illumina HiSeq	Phase_I	183508340	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.904776	0.72868	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31247	1.5;1.5	5.29	5.29	0.74685	.	0.036640	0.85682	D	0.000000	T	0.26268	0.0641	L	0.34521	1.04	0.80722	D	1	B;B	0.33022	0.394;0.342	B;B	0.31495	0.131;0.08	T	0.06162	-1.0842	10	0.54805	T	0.06	-11.6198	15.5156	0.75822	0.0:0.0:0.0:1.0	.	902;908	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	902;908	ENSP00000355348:S902G;ENSP00000354251:S908G	ENSP00000354251:S908G	S	-	1	0	NCKAP1	183508340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.131000	0.65755	0.477000	0.44152	AGT		0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
NCKAP1	10787	broad.mit.edu	37	2	183850947	183850947	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:183850947T>G	ENST00000361354.4	-	10	1328	c.956A>C	c.(955-957)aAa>aCa	p.K319T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.K325T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	319					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.K325T(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTAATACGTTTATTATAGCT	0.308																																					p.K325T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A974C	2						.						58.0	58.0	58.0					2																	183850947		2203	4300	6503	183559192	SO:0001583	missense	10787	exon11			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.956A>C	2.37:g.183850947T>G	ENSP00000355348:p.Lys319Thr	Somatic		Capture	Illumina HiSeq	Phase_I	183559192	NM_205842	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414848	0.83449	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.54675	0.56;0.56	5.51	5.51	0.81932	.	0.042012	0.85682	D	0.000000	T	0.76758	0.4032	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-15.0399	14.7984	0.69894	0.0:0.0:0.0:1.0	.	319;325	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	319;325	ENSP00000355348:K319T;ENSP00000354251:K325T	ENSP00000354251:K325T	K	-	2	0	NCKAP1	183559192	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.492000	0.81482	2.106000	0.64143	0.402000	0.26972	AAA		0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
RDH14	57665	broad.mit.edu	37	2	18736864	18736864	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:18736864A>C	ENST00000381249.3	-	2	711	c.604T>G	c.(604-606)Ttt>Gtt	p.F202V	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	202					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.F202V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	AAGTCATCAAAATTGATGTCT	0.408																																					p.F516V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1546G	2						.						51.0	56.0	55.0					2																	18736864		2203	4299	6502	18600345	SO:0001583	missense	93034	exon9			AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.604T>G	2.37:g.18736864A>C	ENSP00000370648:p.Phe202Val	Somatic		Capture	Illumina HiSeq	Phase_I	18600345	NM_001199103		Missense_Mutation	SNP	ENST00000381249.3	37	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823553	0.71143	.	.	ENSG00000240857;ENSG00000250741	ENST00000381249;ENST00000444297	D;T	0.95272	-3.66;2.01	5.67	5.67	0.87782	NAD(P)-binding domain (1);	.	.	.	.	D	0.96106	0.8731	L	0.50847	1.595	0.80722	D	1	D;D	0.76494	0.999;0.981	D;P	0.80764	0.994;0.796	D	0.96197	0.9142	9	0.52906	T	0.07	.	15.9173	0.79531	1.0:0.0:0.0:0.0	.	516;202	C9J2C7;Q9HBH5	.;RDH14_HUMAN	V	202;516	ENSP00000370648:F202V;ENSP00000412639:F516V	ENSP00000412639:F516V	F	-	1	0	NT5C1B-RDH14;RDH14	18600345	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.339000	0.96797	2.170000	0.68504	0.533000	0.62120	TTT		0.408	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1		
NT5C1B	93034	broad.mit.edu	37	2	18758122	18758122	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:18758122T>C	ENST00000359846.2	-	8	1318	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D414G|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D414G|NT5C1B_ENST00000304081.4_Missense_Mutation_p.D354G	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	414					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.D414G(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCCAATGGGGTCTTTTCCCCC	0.393																																					p.D397G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1190G	2						.						104.0	102.0	102.0					2																	18758122		2203	4299	6502	18621603	SO:0001583	missense	93034	exon8			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1241A>G	2.37:g.18758122T>C	ENSP00000352904:p.Asp414Gly	Somatic		Capture	Illumina HiSeq	Phase_I	18621603	NM_001199086	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699798	0.30142	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89415	-2.51	5.89	5.01	0.66863	.	0.115629	0.85682	D	0.000000	D	0.84370	0.5457	L	0.32530	0.975	0.22096	N	0.999366	B;B;B;B;B;B;B;B	0.22211	0.03;0.008;0.03;0.066;0.019;0.024;0.008;0.0	B;B;B;B;B;B;B;B	0.32928	0.101;0.063;0.101;0.155;0.026;0.061;0.063;0.001	T	0.77091	-0.2716	10	0.66056	D	0.02	-14.6471	9.8987	0.41334	0.0:0.7876:0.1387:0.0737	.	397;431;354;397;356;354;414;414	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	G	414;356;354;414	ENSP00000412639:D356G	ENSP00000305979:D354G	D	-	2	0	NT5C1B-RDH14;NT5C1B	18621603	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	4.883000	0.63128	1.474000	0.48178	-0.242000	0.12053	GAC		0.393	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
ZNF804A	91752	broad.mit.edu	37	2	185801567	185801567	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:185801567G>T	ENST00000302277.6	+	4	2038	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	482							metal ion binding (GO:0046872)	p.D482Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGACTTAAAAGATCTTTGTTC	0.343																																					p.D482Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1444T	2						.						85.0	88.0	87.0					2																	185801567		2201	4299	6500	185509812	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1444G>T	2.37:g.185801567G>T	ENSP00000303252:p.Asp482Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	185509812	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	6.900	0.535624	0.13188	.	.	ENSG00000170396	ENST00000302277	T	0.06218	3.33	5.69	3.88	0.44766	.	0.442525	0.21160	N	0.079162	T	0.07098	0.0180	M	0.62723	1.935	0.09310	N	1	P	0.45902	0.868	B	0.37047	0.24	T	0.30504	-0.9976	10	0.48119	T	0.1	-9.147	7.1241	0.25461	0.1566:0.1542:0.6892:0.0	.	482	Q7Z570	Z804A_HUMAN	Y	482	ENSP00000303252:D482Y	ENSP00000303252:D482Y	D	+	1	0	ZNF804A	185509812	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	0.674000	0.25218	0.745000	0.32763	0.655000	0.94253	GAT		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
FSIP2	401024	broad.mit.edu	37	2	186671136	186671136	+	Silent	SNP	G	G	A	rs267599115		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:186671136G>A	ENST00000424728.1	+	17	17103	c.17103G>A	c.(17101-17103)tcG>tcA	p.S5701S	FSIP2_ENST00000343098.5_Silent_p.S5790S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5701								p.S399S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATATTATTCGAAACTCAGTT	0.343																																					p.S5790S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G17370A	2						.						95.0	89.0	91.0					2																	186671136		1815	4079	5894	186379381	SO:0001819	synonymous_variant	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17103G>A	2.37:g.186671136G>A		Somatic		Capture	Illumina HiSeq	Phase_I	186379381	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																					0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FSIP2	401024	broad.mit.edu	37	2	186672046	186672046	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:186672046A>G	ENST00000424728.1	+	17	18013	c.18013A>G	c.(18013-18015)Aca>Gca	p.T6005A	FSIP2_ENST00000343098.5_Missense_Mutation_p.T6094A			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6005								p.T703A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCACCATATACAATAATATT	0.353																																					p.T6094A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A18280G	2						.						81.0	79.0	79.0					2																	186672046		1817	4065	5882	186380291	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18013A>G	2.37:g.186672046A>G	ENSP00000401306:p.Thr6005Ala	Somatic		Capture	Illumina HiSeq	Phase_I	186380291	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	14.94	2.686190	0.47991	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.48522	0.81;0.81	4.8	4.8	0.61643	.	0.000000	0.52532	D	0.000063	T	0.44286	0.1286	L	0.36672	1.1	0.28271	N	0.924393	.	.	.	.	.	.	T	0.44174	-0.9345	8	0.46703	T	0.11	.	10.6341	0.45554	1.0:0.0:0.0:0.0	.	.	.	.	A	6094;6005	ENSP00000344403:T6094A;ENSP00000401306:T6005A	ENSP00000344403:T6094A	T	+	1	0	FSIP2	186380291	0.754000	0.28360	0.894000	0.35097	0.830000	0.47004	2.998000	0.49465	2.002000	0.58637	0.402000	0.26972	ACA		0.353	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FSIP2	401024	broad.mit.edu	37	2	186672920	186672920	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:186672920C>T	ENST00000424728.1	+	17	18887	c.18887C>T	c.(18886-18888)tCt>tTt	p.S6296F	FSIP2_ENST00000343098.5_Missense_Mutation_p.S6385F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6296								p.S994F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTTCGAATTCTGAATTTCAA	0.318																																					p.S6385F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C19154T	2						.						43.0	41.0	42.0					2																	186672920		1812	4064	5876	186381165	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18887C>T	2.37:g.186672920C>T	ENSP00000401306:p.Ser6296Phe	Somatic		Capture	Illumina HiSeq	Phase_I	186381165	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	C	14.20	2.463775	0.43736	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56776	0.44;0.45	5.21	5.21	0.72293	.	0.247105	0.29113	N	0.013104	T	0.52757	0.1754	L	0.52011	1.625	0.35329	D	0.785479	.	.	.	.	.	.	T	0.53244	-0.8466	8	0.09843	T	0.71	.	14.1271	0.65228	0.0:1.0:0.0:0.0	.	.	.	.	F	6385;6296	ENSP00000344403:S6385F;ENSP00000401306:S6296F	ENSP00000344403:S6385F	S	+	2	0	FSIP2	186381165	0.844000	0.29557	0.972000	0.41901	0.385000	0.30292	0.599000	0.24089	2.711000	0.92665	0.591000	0.81541	TCT		0.318	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
ZC3H15	55854	broad.mit.edu	37	2	187360039	187360039	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:187360039T>G	ENST00000337859.6	+	2	382	c.155T>G	c.(154-156)tTt>tGt	p.F52C	ZC3H15_ENST00000544130.1_5'UTR|AC018867.1_ENST00000396985.1_5'Flank|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	52					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F52C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAAGTTAAATTTGGTCAACAA	0.323																																					p.F52C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T155G	2						.						80.0	72.0	75.0					2																	187360039		1823	4079	5902	187068284	SO:0001583	missense	55854	exon2				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.155T>G	2.37:g.187360039T>G	ENSP00000338788:p.Phe52Cys	Somatic		Capture	Illumina HiSeq	Phase_I	187068284	NM_018471	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296511	0.60086	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.64085	-0.08	6.03	4.87	0.63330	.	0.165281	0.56097	D	0.000035	T	0.65964	0.2742	M	0.63428	1.95	0.80722	D	1	D	0.59357	0.985	P	0.49999	0.628	T	0.65479	-0.6158	10	0.39692	T	0.17	-7.299	12.2273	0.54468	0.0:0.0662:0.0:0.9338	.	52	Q8WU90	ZC3HF_HUMAN	C	52	ENSP00000338788:F52C	ENSP00000338788:F52C	F	+	2	0	ZC3H15	187068284	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.776000	0.55356	1.095000	0.41419	-0.290000	0.09829	TTT		0.323	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471	
COL5A2	1290	broad.mit.edu	37	2	189909954	189909954	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:189909954G>T	ENST00000374866.3	-	47	3588	c.3314C>A	c.(3313-3315)tCt>tAt	p.S1105Y		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1105					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.S1105Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGACCCCGAGAACCCTAAAA	0.313																																					p.S1105Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3314A	2						.						27.0	30.0	29.0					2																	189909954		2200	4300	6500	189618199	SO:0001583	missense	1290	exon47			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3314C>A	2.37:g.189909954G>T	ENSP00000364000:p.Ser1105Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	189618199	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985881	0.74589	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94457	-3.43	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000056	D	0.95570	0.8560	L	0.39898	1.24	0.80722	D	1	D;D	0.61697	0.978;0.99	P;D	0.64410	0.598;0.925	D	0.95550	0.8620	10	0.62326	D	0.03	.	17.5779	0.87956	0.0:0.0:1.0:0.0	.	745;1105	Q5PR22;P05997	.;CO5A2_HUMAN	Y	1105;745	ENSP00000364000:S1105Y	ENSP00000364000:S1105Y	S	-	2	0	COL5A2	189618199	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.504000	0.97986	2.832000	0.97577	0.655000	0.94253	TCT		0.313	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
COL5A2	1290	broad.mit.edu	37	2	189928718	189928718	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:189928718T>G	ENST00000374866.3	-	26	2032	c.1758A>C	c.(1756-1758)aaA>aaC	p.K586N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	586					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.K586N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAGGTCCAAGTTTTCCTTCAG	0.333																																					p.K586N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1758C	2						.						81.0	84.0	83.0					2																	189928718		2203	4300	6503	189636963	SO:0001583	missense	1290	exon26			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1758A>C	2.37:g.189928718T>G	ENSP00000364000:p.Lys586Asn	Somatic		Capture	Illumina HiSeq	Phase_I	189636963	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256848	0.80246	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94232	-3.38	5.21	4.04	0.47022	.	0.000000	0.51477	D	0.000093	D	0.92967	0.7762	L	0.28192	0.835	0.80722	D	1	D;D	0.71674	0.998;0.988	D;D	0.76071	0.987;0.967	D	0.90823	0.4710	9	.	.	.	.	10.9821	0.47501	0.0:0.0735:0.0:0.9265	.	226;586	Q5PR22;P05997	.;CO5A2_HUMAN	N	586;226	ENSP00000364000:K586N	.	K	-	3	2	COL5A2	189636963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.970000	0.49240	0.814000	0.34374	0.482000	0.46254	AAA		0.333	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
COL5A2	1290	broad.mit.edu	37	2	189943795	189943795	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:189943795A>G	ENST00000374866.3	-	15	1273	c.999T>C	c.(997-999)ggT>ggC	p.G333G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	333					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G333G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATACCAGAGGACCCATGGCAC	0.358																																					p.G333G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T999C	2						.						60.0	62.0	62.0					2																	189943795		2203	4300	6503	189652040	SO:0001819	synonymous_variant	1290	exon15			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.999T>C	2.37:g.189943795A>G		Somatic		Capture	Illumina HiSeq	Phase_I	189652040	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																				0.358	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
SLC40A1	30061	broad.mit.edu	37	2	190428742	190428742	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:190428742A>C	ENST00000261024.2	-	7	1396	c.970T>G	c.(970-972)Ttt>Gtt	p.F324V		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	324				F -> S (in Ref. 9; AAH35893). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.F324V(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATGCAGTCAAAGCCCAGGACA	0.507																																					p.F324V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T970G	2						.						105.0	84.0	91.0					2																	190428742		2203	4300	6503	190136987	SO:0001583	missense	30061	exon7			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.970T>G	2.37:g.190428742A>C	ENSP00000261024:p.Phe324Val	Somatic		Capture	Illumina HiSeq	Phase_I	190136987	NM_014585	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	31	5.098649	0.94197	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.96774	-4.12	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98179	1.0456	10	0.37606	T	0.19	-32.2746	16.8061	0.85666	1.0:0.0:0.0:0.0	.	324	Q9NP59	S40A1_HUMAN	V	324;59	ENSP00000261024:F324V	ENSP00000261024:F324V	F	-	1	0	SLC40A1	190136987	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.322000	0.96357	2.367000	0.80283	0.528000	0.53228	TTT		0.507	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		
PMS1	5378	broad.mit.edu	37	2	190708798	190708798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:190708798G>T	ENST00000441310.2	+	6	924	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	PMS1_ENST00000447232.2_Nonsense_Mutation_p.E231*|PMS1_ENST00000432292.3_Nonsense_Mutation_p.E55*|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000418224.3_Nonsense_Mutation_p.E55*|PMS1_ENST00000409823.3_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	231					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.E231*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCACTCTGAAGAATCTCAGGT	0.408			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.E231X		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G691T	2						.						97.0	91.0	93.0					2																	190708798		2203	4300	6503	190417043	SO:0001587	stop_gained	5378	exon6				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.691G>T	2.37:g.190708798G>T	ENSP00000406490:p.Glu231*	Somatic		Capture	Illumina HiSeq	Phase_I	190417043	NM_000534	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824910	0.90955	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000447232;ENST00000432292;ENST00000424307	.	.	.	6.02	4.23	0.50019	.	0.442209	0.28996	N	0.013466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.3395	8.478	0.33025	0.0626:0.1141:0.7049:0.1184	.	.	.	.	X	55;231;55;231;55;170	.	ENSP00000376149:E55X	E	+	1	0	PMS1	190417043	1.000000	0.71417	0.965000	0.40720	0.813000	0.45954	2.223000	0.42936	0.863000	0.35553	0.650000	0.86243	GAA		0.408	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
MSTN	2660	broad.mit.edu	37	2	190924865	190924865	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:190924865C>A	ENST00000260950.4	-	2	802	c.670G>T	c.(670-672)Ggc>Tgc	p.G224C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	224					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.G224C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTTCAATGCCTAAGTTGGAT	0.413																																					p.G224C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670T	2						.						173.0	165.0	168.0					2																	190924865		2203	4300	6503	190633110	SO:0001583	missense	2660	exon2			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.670G>T	2.37:g.190924865C>A	ENSP00000260950:p.Gly224Cys	Somatic		Capture	Illumina HiSeq	Phase_I	190633110	NM_005259	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749863	0.69533	.	.	ENSG00000138379	ENST00000260950	T	0.74947	-0.89	5.34	4.45	0.53987	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87415	0.2378	10	0.62326	D	0.03	-9.8761	16.02	0.80473	0.0:0.8654:0.1346:0.0	.	224	O14793	GDF8_HUMAN	C	224	ENSP00000260950:G224C	ENSP00000260950:G224C	G	-	1	0	MSTN	190633110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.444000	0.47605	0.650000	0.86243	GGC		0.413	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259	
C2orf88	84281	broad.mit.edu	37	2	191064607	191064607	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:191064607G>T	ENST00000340623.4	+	2	432	c.21G>T	c.(19-21)aaG>aaT	p.K7N	C2orf88_ENST00000409870.1_Missense_Mutation_p.K7N|C2orf88_ENST00000443551.2_Missense_Mutation_p.K7N|C2orf88_ENST00000396974.2_Missense_Mutation_p.K7N	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	7						plasma membrane (GO:0005886)		p.K7N(1)		kidney(1)|large_intestine(1)|lung(1)	3						TGAAATCAAAGCAAACTTTCC	0.428																																					p.K7N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21T	2						.						105.0	104.0	104.0					2																	191064607		1939	4143	6082	190772852	SO:0001583	missense	84281	exon2			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.21G>T	2.37:g.191064607G>T	ENSP00000345107:p.Lys7Asn	Somatic		Capture	Illumina HiSeq	Phase_I	190772852	NM_001042519	D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724072	0.48728	.	.	ENSG00000187699	ENST00000450357;ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.31	3.52	0.40303	.	0.000000	0.53938	U	0.000049	T	0.72843	0.3511	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72414	-0.4301	8	.	.	.	-2.8434	9.7279	0.40344	0.1669:0.0:0.8331:0.0	.	7	Q9BSF0	CB088_HUMAN	N	7	ENSP00000394370:K7N;ENSP00000380172:K7N;ENSP00000386976:K7N;ENSP00000386649:K7N;ENSP00000345107:K7N;ENSP00000405225:K7N	.	K	+	3	2	C2orf88	190772852	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	2.451000	0.44952	0.813000	0.34350	0.650000	0.86243	AAG		0.428	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321	
INPP1	3628	broad.mit.edu	37	2	191235775	191235775	+	Missense_Mutation	SNP	C	C	T	rs577408029		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:191235775C>T	ENST00000322522.4	+	6	1303	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	INPP1_ENST00000392329.2_Missense_Mutation_p.R283C|INPP1_ENST00000541441.1_Missense_Mutation_p.R283C	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	283					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.R283C(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GTGTGGAGATCGCATATTTGG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19905	0.0		0.0	False		,,,				2504	0.001				p.R283C	Melanoma(130;184 1743 2185 19805 38428)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	2						.						133.0	129.0	130.0					2																	191235775		2203	4300	6503	190944020	SO:0001583	missense	3628	exon6				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.847C>T	2.37:g.191235775C>T	ENSP00000325423:p.Arg283Cys	Somatic		Capture	Illumina HiSeq	Phase_I	190944020	NM_002194		Missense_Mutation	SNP	ENST00000322522.4	37	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287697	0.80803	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.31769	1.48;1.48;1.48	5.15	-2.71	0.05986	.	0.726132	0.14621	N	0.308416	T	0.29288	0.0729	L	0.59436	1.845	0.09310	N	1	D	0.67145	0.996	P	0.50136	0.632	T	0.15009	-1.0452	10	0.62326	D	0.03	-0.4396	2.7079	0.05166	0.436:0.3089:0.1588:0.0963	.	283	P49441	INPP_HUMAN	C	283	ENSP00000376142:R283C;ENSP00000325423:R283C;ENSP00000440650:R283C	ENSP00000325423:R283C	R	+	1	0	INPP1	190944020	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	-0.237000	0.08990	-0.653000	0.05401	-0.556000	0.04195	CGC		0.468	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2		
STAT1	6772	broad.mit.edu	37	2	191872299	191872299	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:191872299C>A	ENST00000361099.3	-	5	749	c.362G>T	c.(361-363)aGa>aTa	p.R121I	STAT1_ENST00000392322.3_Missense_Mutation_p.R121I|STAT1_ENST00000392323.2_Missense_Mutation_p.R123I|STAT1_ENST00000409465.1_Missense_Mutation_p.R121I|STAT1_ENST00000540176.1_Missense_Mutation_p.R121I	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	121					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.R121I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTGATTAAATCTCTGGGCGTT	0.333																																					p.R121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362T	2						.						75.0	80.0	78.0					2																	191872299		2203	4297	6500	191580544	SO:0001583	missense	6772	exon5				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.362G>T	2.37:g.191872299C>A	ENSP00000354394:p.Arg121Ile	Somatic		Capture	Illumina HiSeq	Phase_I	191580544	NM_007315	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649622	0.29336	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000544783;ENST00000424722;ENST00000454414	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.73	3.67	0.42095	STAT transcription factor, protein interaction (4);	0.559989	0.20510	N	0.090915	T	0.26810	0.0656	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.10296	0.002;0.003	B;B	0.13407	0.004;0.009	T	0.03130	-1.1069	10	0.38643	T	0.18	-21.7841	3.1041	0.06336	0.2408:0.3518:0.3206:0.0868	.	121;121	P42224-2;P42224	.;STAT1_HUMAN	I	121;121;121;121;123;29;121;121	ENSP00000354394:R121I;ENSP00000386244:R121I;ENSP00000438703:R121I;ENSP00000376136:R121I;ENSP00000376137:R123I;ENSP00000402548:R121I;ENSP00000411398:R121I	ENSP00000354394:R121I	R	-	2	0	STAT1	191580544	0.570000	0.26651	1.000000	0.80357	0.997000	0.91878	0.569000	0.23638	2.706000	0.92434	0.563000	0.77884	AGA		0.333	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
STAT4	6775	broad.mit.edu	37	2	191937899	191937899	+	Silent	SNP	G	G	T	rs145071895	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:191937899G>T	ENST00000392320.2	-	5	704	c.390C>A	c.(388-390)tcC>tcA	p.S130S	STAT4_ENST00000358470.4_Silent_p.S130S	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	130					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S130S(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AACTTTGTAAGGATTTCTCTA	0.393																																					p.S130S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C390A	2						.						115.0	126.0	122.0					2																	191937899		2203	4300	6503	191646144	SO:0001819	synonymous_variant	6775	exon5				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.390C>A	2.37:g.191937899G>T		Somatic		Capture	Illumina HiSeq	Phase_I	191646144	NM_003151	Q96NZ6	Silent	SNP	ENST00000392320.2	37	CCDS2310.1																																																																																				0.393	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
SLC39A10	57181	broad.mit.edu	37	2	196544789	196544789	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:196544789A>C	ENST00000409086.3	+	2	298	c.23A>C	c.(22-24)aAa>aCa	p.K8T	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.K8T	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	8					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.K8T(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATGCACACAAAATTTTGCCTC	0.358																																					p.K8T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A23C	2						.						60.0	67.0	65.0					2																	196544789		2201	4300	6501	196253034	SO:0001583	missense	57181	exon2				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.23A>C	2.37:g.196544789A>C	ENSP00000386766:p.Lys8Thr	Somatic		Capture	Illumina HiSeq	Phase_I	196253034	NM_020342	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384417	0.42308	.	.	ENSG00000196950	ENST00000458054;ENST00000409086;ENST00000359634;ENST00000412905;ENST00000418005	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.7	3.51	0.40186	.	0.112351	0.64402	N	0.000018	T	0.33030	0.0849	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.10382	-1.0632	10	0.44086	T	0.13	.	11.4615	0.50213	0.8491:0.1509:0.0:0.0	.	8	Q9ULF5	S39AA_HUMAN	T	8	ENSP00000389640:K8T;ENSP00000386766:K8T;ENSP00000352655:K8T;ENSP00000406590:K8T;ENSP00000409272:K8T	ENSP00000352655:K8T	K	+	2	0	SLC39A10	196253034	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.232000	0.72313	0.773000	0.33404	0.528000	0.53228	AAA		0.358	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707	
DNAH7	56171	broad.mit.edu	37	2	196825397	196825397	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:196825397T>G	ENST00000312428.6	-	18	2578	c.2478A>C	c.(2476-2478)aaA>aaC	p.K826N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	826	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K826N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGATCTTACTTTTTTTGTCA	0.423																																					p.K826N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2478C	2						.						162.0	158.0	159.0					2																	196825397		1893	4121	6014	196533642	SO:0001583	missense	56171	exon18			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2478A>C	2.37:g.196825397T>G	ENSP00000311273:p.Lys826Asn	Somatic		Capture	Illumina HiSeq	Phase_I	196533642	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	0.357	-0.941695	0.02322	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.74	-0.418	0.12344	Dynein heavy chain, domain-2 (1);	0.187412	0.42821	D	0.000655	T	0.41627	0.1167	L	0.35854	1.095	0.09310	N	0.999999	B	0.17465	0.022	B	0.19946	0.027	T	0.29027	-1.0025	10	0.15952	T	0.53	.	11.6572	0.51325	0.0:0.4509:0.0:0.5491	.	826	Q8WXX0	DYH7_HUMAN	N	826	ENSP00000311273:K826N	ENSP00000311273:K826N	K	-	3	2	DNAH7	196533642	0.000000	0.05858	0.923000	0.36655	0.116000	0.19942	-0.310000	0.08135	0.125000	0.18397	-0.256000	0.11100	AAA		0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196837079	196837079	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:196837079C>A	ENST00000312428.6	-	16	2045	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	649	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D649Y(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCTCATGTCTGCTGGAGAA	0.373																																					p.D649Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1945T	2						.						187.0	167.0	173.0					2																	196837079		1852	4105	5957	196545324	SO:0001583	missense	56171	exon16			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1945G>T	2.37:g.196837079C>A	ENSP00000311273:p.Asp649Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	196545324	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921662	0.52653	.	.	ENSG00000118997	ENST00000312428	T	0.26373	1.74	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.77103	2.36	0.80722	D	1	D	0.63880	0.993	P	0.61201	0.885	T	0.56703	-0.7935	10	0.62326	D	0.03	.	17.7101	0.88319	0.0:1.0:0.0:0.0	.	649	Q8WXX0	DYH7_HUMAN	Y	649	ENSP00000311273:D649Y	ENSP00000311273:D649Y	D	-	1	0	DNAH7	196545324	1.000000	0.71417	0.958000	0.39756	0.073000	0.16967	6.662000	0.74426	2.350000	0.79820	0.557000	0.71058	GAC		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	broad.mit.edu	37	2	197105275	197105275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197105275C>T	ENST00000260983.3	-	21	3844	c.3662G>A	c.(3661-3663)cGa>cAa	p.R1221Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R865Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1221Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGATCTCTTCGGATAATTAA	0.323																																					p.R1221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3662A	2						.						71.0	73.0	73.0					2																	197105275		2203	4300	6503	196813520	SO:0001583	missense	57520	exon21			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3662G>A	2.37:g.197105275C>T	ENSP00000260983:p.Arg1221Gln	Somatic		Capture	Illumina HiSeq	Phase_I	196813520	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129861	0.94473	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.50548	0.74;0.74	4.6	4.6	0.57074	HECT (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.78602	-0.2140	10	0.87932	D	0	.	17.9758	0.89127	0.0:1.0:0.0:0.0	.	1221	Q9P2P5	HECW2_HUMAN	Q	865;1221	ENSP00000386775:R865Q;ENSP00000260983:R1221Q	ENSP00000260983:R1221Q	R	-	2	0	HECW2	196813520	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.921000	0.70028	2.548000	0.85928	0.655000	0.94253	CGA		0.323	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197122572	197122572	+	Missense_Mutation	SNP	C	C	T	rs552109642		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197122572C>T	ENST00000260983.3	-	18	3576	c.3394G>A	c.(3394-3396)Gat>Aat	p.D1132N	HECW2_ENST00000409111.1_Missense_Mutation_p.D776N|AC020571.3_ENST00000605907.1_RNA|AC020571.3_ENST00000430904.1_RNA|AC020571.3_ENST00000433933.1_RNA	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D1132N(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGTCTGCATCGCTTGAAAGG	0.408																																					p.D1132N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3394A	2						.						135.0	110.0	118.0					2																	197122572		2203	4300	6503	196830817	SO:0001583	missense	57520	exon18			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3394G>A	2.37:g.197122572C>T	ENSP00000260983:p.Asp1132Asn	Somatic		Capture	Illumina HiSeq	Phase_I	196830817	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582463	0.96578	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85955	-2.05;-2.05	5.55	5.55	0.83447	.	0.052165	0.85682	N	0.000000	D	0.85699	0.5757	L	0.60845	1.875	0.80722	D	1	D	0.63046	0.992	P	0.47528	0.549	D	0.85273	0.1057	10	0.41790	T	0.15	.	16.5241	0.84326	0.0:1.0:0.0:0.0	.	1132	Q9P2P5	HECW2_HUMAN	N	776;1132	ENSP00000386775:D776N;ENSP00000260983:D1132N	ENSP00000260983:D1132N	D	-	1	0	HECW2	196830817	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.170000	0.64990	2.890000	0.99128	0.585000	0.79938	GAT		0.408	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197184423	197184423	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197184423C>A	ENST00000260983.3	-	9	1373	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	HECW2_ENST00000409111.1_Missense_Mutation_p.E41D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	397					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E397D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGTTAATTCCTCTGTGTCTA	0.507																																					p.E397D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1191T	2						.						96.0	97.0	97.0					2																	197184423		2203	4300	6503	196892668	SO:0001583	missense	57520	exon9			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1191G>T	2.37:g.197184423C>A	ENSP00000260983:p.Glu397Asp	Somatic		Capture	Illumina HiSeq	Phase_I	196892668	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323577	0.24080	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32272	1.46;1.46	5.64	4.75	0.60458	.	0.648969	0.16164	N	0.226636	T	0.17152	0.0412	N	0.14661	0.345	0.34107	D	0.662541	B	0.10296	0.003	B	0.08055	0.003	T	0.17228	-1.0376	10	0.27785	T	0.31	.	7.9501	0.30010	0.1692:0.7459:0.0:0.0849	.	397	Q9P2P5	HECW2_HUMAN	D	41;397	ENSP00000386775:E41D;ENSP00000260983:E397D	ENSP00000260983:E397D	E	-	3	2	HECW2	196892668	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	0.691000	0.25467	1.581000	0.49865	0.650000	0.86243	GAG		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197184564	197184564	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197184564G>A	ENST00000260983.3	-	9	1232	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S350S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATCGGAAGGGCTACCTAAGT	0.498																																					p.S350S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050T	2						.						78.0	68.0	71.0					2																	197184564		2203	4300	6503	196892809	SO:0001819	synonymous_variant	57520	exon9			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1050C>T	2.37:g.197184564G>A		Somatic		Capture	Illumina HiSeq	Phase_I	196892809	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
GTF3C3	9330	broad.mit.edu	37	2	197631422	197631422	+	Missense_Mutation	SNP	C	C	T	rs375124162		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197631422C>T	ENST00000263956.3	-	17	2494	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	802					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R802Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACTGAGGTATCGATTAAGAAA	0.403																																					p.R802Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2405A	2						.	C	GLN/ARG	0,4406		0,0,2203	84.0	83.0	84.0		2405	4.8	1.0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTF3C3	NM_012086.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	802/887	197631422	1,13005	2203	4300	6503	197339667	SO:0001583	missense	9330	exon17			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2405G>A	2.37:g.197631422C>T	ENSP00000263956:p.Arg802Gln	Somatic		Capture	Illumina HiSeq	Phase_I	197339667	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228920	0.58777	0.0	1.16E-4	ENSG00000119041	ENST00000263956	T	0.29142	1.58	4.78	4.78	0.61160	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.60067	1.865	0.80722	D	1	P	0.40107	0.703	B	0.27380	0.079	T	0.12760	-1.0535	10	0.26408	T	0.33	-10.2751	17.9896	0.89164	0.0:1.0:0.0:0.0	.	802	Q9Y5Q9	TF3C3_HUMAN	Q	802	ENSP00000263956:R802Q	ENSP00000263956:R802Q	R	-	2	0	GTF3C3	197339667	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.741000	0.68638	2.458000	0.83093	0.585000	0.79938	CGA		0.403	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
PGAP1	80055	broad.mit.edu	37	2	197761892	197761892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197761892C>T	ENST00000354764.4	-	7	1004	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PGAP1_ENST00000409475.1_Missense_Mutation_p.R297Q|PGAP1_ENST00000409188.1_Missense_Mutation_p.R255Q|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	297					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.R297Q(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAAGAATGCTCGAACTGTAGT	0.249																																					p.R297Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890A	2						.						40.0	39.0	39.0					2																	197761892		2192	4282	6474	197470137	SO:0001583	missense	80055	exon7				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.890G>A	2.37:g.197761892C>T	ENSP00000346809:p.Arg297Gln	Somatic		Capture	Illumina HiSeq	Phase_I	197470137	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546208	0.86022	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	T;T;T;D	0.86497	0.97;0.97;0.97;-2.13	4.65	4.65	0.58169	.	0.062472	0.64402	D	0.000007	D	0.93936	0.8059	M	0.87827	2.91	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94268	0.7508	10	0.54805	T	0.06	-7.7064	15.8224	0.78667	0.0:1.0:0.0:0.0	.	255;297;297	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	Q	77;297;297;255;77	ENSP00000346809:R297Q;ENSP00000387028:R297Q;ENSP00000386802:R255Q;ENSP00000363870:R77Q	ENSP00000346809:R297Q	R	-	2	0	PGAP1	197470137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.933000	0.63484	2.576000	0.86940	0.563000	0.77884	CGA		0.249	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
ANKRD44	91526	broad.mit.edu	37	2	197878248	197878248	+	Silent	SNP	T	T	C	rs77830956	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197878248T>C	ENST00000328737.2	-	18	1912	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	ANKRD44_ENST00000282272.8_Silent_p.P629P|ANKRD44_ENST00000337207.5_Silent_p.P612P|ANKRD44_ENST00000450567.1_Silent_p.P612P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	637								p.P612P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGGCATGAAGTGGGGTTCTTT	0.448													T|||	12	0.00239617	0.0076	0.0029	5008	,	,		21414	0.0		0.0	False		,,,				2504	0.0				p.P637P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1911G	2						.	T		24,4382	31.7+/-61.6	0,24,2179	173.0	165.0	168.0		1911	0.7	1.0	2	dbSNP_132	168	0,8600		0,0,4300	no	coding-synonymous	ANKRD44	NM_001195144.1		0,24,6479	CC,CT,TT		0.0,0.5447,0.1845		637/994	197878248	24,12982	2203	4300	6503	197586493	SO:0001819	synonymous_variant	91526	exon18			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1836A>G	2.37:g.197878248T>C		Somatic		Capture	Illumina HiSeq	Phase_I	197586493	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																					0.448	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
ANKRD44	91526	broad.mit.edu	37	2	197986251	197986251	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197986251G>T	ENST00000328737.2	-	8	712	c.636C>A	c.(634-636)gtC>gtA	p.V212V	ANKRD44_ENST00000539527.1_Silent_p.V165V|ANKRD44_ENST00000450567.1_Silent_p.V212V|ANKRD44_ENST00000337207.5_Silent_p.V212V|ANKRD44_ENST00000282272.8_Silent_p.V229V|ANKRD44_ENST00000409919.1_Silent_p.V237V|ANKRD44_ENST00000409153.1_Silent_p.V237V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	237								p.V212V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TATTTCCATAGACATTGATTT	0.433																																					p.V237V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711A	2						.						124.0	97.0	106.0					2																	197986251		2203	4300	6503	197694496	SO:0001819	synonymous_variant	91526	exon8			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.636C>A	2.37:g.197986251G>T		Somatic		Capture	Illumina HiSeq	Phase_I	197694496	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																					0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
SF3B1	23451	broad.mit.edu	37	2	198257138	198257138	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:198257138A>C	ENST00000335508.6	-	25	3895	c.3804T>G	c.(3802-3804)atT>atG	p.I1268M		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1268					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.I1268M(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGAGTTGTAAATTTTCCAAT	0.363			Mis		myelodysplastic syndrome																																p.I1268M			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3804G	2						.						102.0	103.0	103.0					2																	198257138		2203	4300	6503	197965383	SO:0001583	missense	23451	exon25			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3804T>G	2.37:g.198257138A>C	ENSP00000335321:p.Ile1268Met	Somatic		Capture	Illumina HiSeq	Phase_I	197965383	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815727	0.32145	.	.	ENSG00000115524	ENST00000335508	T	0.67345	-0.26	4.64	4.64	0.57946	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.87180	2.865	0.80722	D	1	B	0.28933	0.228	B	0.35607	0.206	T	0.72673	-0.4222	10	0.59425	D	0.04	.	2.9864	0.05970	0.658:0.0:0.1315:0.2105	.	1268	O75533	SF3B1_HUMAN	M	1268	ENSP00000335321:I1268M	ENSP00000335321:I1268M	I	-	3	3	SF3B1	197965383	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.696000	0.25541	2.083000	0.62718	0.459000	0.35465	ATT		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
MOB4	25843	broad.mit.edu	37	2	198400345	198400345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:198400345A>G	ENST00000323303.4	+	3	470	c.215A>G	c.(214-216)gAa>gGa	p.E72G	MOB4_ENST00000409360.1_Missense_Mutation_p.E40G|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.E108G|MOB4_ENST00000448447.2_Missense_Mutation_p.E51G|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000233892.4_Missense_Mutation_p.E40G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	72					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E72G(1)									TGGAAGTATGAACATTTAAGG	0.308																																					p.E72G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A215G	2						.						119.0	123.0	121.0					2																	198400345		2203	4299	6502	198108590	SO:0001583	missense	25843	exon3			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.215A>G	2.37:g.198400345A>G	ENSP00000315702:p.Glu72Gly	Somatic		Capture	Illumina HiSeq	Phase_I	198108590	NM_015387	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504568	0.85176	.	.	ENSG00000115540	ENST00000233892;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72075	0.96;0.976	D	0.89751	0.3940	9	0.62326	D	0.03	.	14.6784	0.68998	1.0:0.0:0.0:0.0	.	51;72	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	G	40;72;51;40	.	ENSP00000233892:E40G	E	+	2	0	PHOCN	198108590	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.215000	0.95146	1.943000	0.56356	0.377000	0.23210	GAA		0.308	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
RFTN2	130132	broad.mit.edu	37	2	198498520	198498520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:198498520C>A	ENST00000295049.4	-	4	1176	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	214					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.E214*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGATGAAGTTCTTCCTCAATT	0.408																																					p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	2						.						235.0	211.0	219.0					2																	198498520		2203	4300	6503	198206765	SO:0001587	stop_gained	130132	exon4			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.640G>T	2.37:g.198498520C>A	ENSP00000295049:p.Glu214*	Somatic		Capture	Illumina HiSeq	Phase_I	198206765	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Nonsense_Mutation	SNP	ENST00000295049.4	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	43	10.088269	0.99333	.	.	ENSG00000162944	ENST00000295049	.	.	.	5.27	5.27	0.74061	.	1.171650	0.06167	N	0.676969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.5411	17.4389	0.87560	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000295049:E214X	E	-	1	0	RFTN2	198206765	1.000000	0.71417	0.574000	0.28523	0.949000	0.60115	4.871000	0.63042	2.619000	0.88677	0.655000	0.94253	GAA		0.408	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
RFTN2	130132	broad.mit.edu	37	2	198511352	198511352	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:198511352G>A	ENST00000295049.4	-	2	714	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	60					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.L60L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACTATATCCAGAATTGAATTT	0.328																																					p.L60L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C178T	2						.						55.0	57.0	57.0					2																	198511352		2203	4300	6503	198219597	SO:0001819	synonymous_variant	130132	exon2			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.178C>T	2.37:g.198511352G>A		Somatic		Capture	Illumina HiSeq	Phase_I	198219597	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	CCDS2323.1																																																																																				0.328	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
WDR35	57539	broad.mit.edu	37	2	20151184	20151184	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:20151184T>G	ENST00000345530.3	-	14	1610	c.1495A>C	c.(1495-1497)Acc>Ccc	p.T499P	WDR35_ENST00000416055.2_Missense_Mutation_p.T64P|WDR35_ENST00000281405.4_Missense_Mutation_p.T488P	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	499					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.T499P(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGAATGGTTTTACTATAA	0.264																																					p.T499P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1495C	2						.						42.0	41.0	41.0					2																	20151184		2202	4276	6478	20014665	SO:0001583	missense	57539	exon14			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1495A>C	2.37:g.20151184T>G	ENSP00000314444:p.Thr499Pro	Somatic		Capture	Illumina HiSeq	Phase_I	20014665	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039777	0.35989	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.382752	0.14205	U	0.334418	D	0.85682	0.5753	N	0.08118	0	0.30119	N	0.80586	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.79193	-0.1904	10	0.38643	T	0.18	-1.1658	13.2781	0.60198	0.0:0.9235:0.0:0.0765	.	499;488;499;64	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	P	499;488;64;34	ENSP00000314444:T499P;ENSP00000281405:T488P;ENSP00000399159:T64P;ENSP00000404409:T34P	ENSP00000281405:T488P	T	-	1	0	WDR35	20014665	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.366000	0.52343	1.305000	0.44909	-0.137000	0.14449	ACC		0.264	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
SATB2	23314	broad.mit.edu	37	2	200246483	200246483	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:200246483T>C	ENST00000417098.1	-	4	1223	c.407A>G	c.(406-408)gAc>gGc	p.D136G	SATB2_ENST00000428695.1_Intron|SATB2_ENST00000443023.1_Missense_Mutation_p.D77G|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Missense_Mutation_p.D136G|SATB2_ENST00000457245.1_Missense_Mutation_p.D136G	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	136					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.D136G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTGTCGCGTCGGGTGCATC	0.448																																					p.D136G	Colon(30;262 767 11040 24421 36230)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A407G	2						.						113.0	105.0	107.0					2																	200246483		2203	4300	6503	199954728	SO:0001583	missense	23314	exon5			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.407A>G	2.37:g.200246483T>C	ENSP00000401112:p.Asp136Gly	Somatic		Capture	Illumina HiSeq	Phase_I	199954728	NM_015265	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329190	0.60743	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.76	5.76	0.90799	.	0.049703	0.85682	D	0.000000	D	0.84356	0.5454	L	0.42245	1.32	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	D	0.85690	0.1306	10	0.66056	D	0.02	-26.7752	16.0843	0.81031	0.0:0.0:0.0:1.0	.	136	Q9UPW6	SATB2_HUMAN	G	136;77;136;136	ENSP00000401112:D136G;ENSP00000388764:D77G;ENSP00000260926:D136G;ENSP00000405420:D136G	ENSP00000260926:D136G	D	-	2	0	SATB2	199954728	1.000000	0.71417	0.694000	0.30210	0.989000	0.77384	8.040000	0.89188	2.191000	0.70037	0.533000	0.62120	GAC		0.448	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	
C2orf69	205327	broad.mit.edu	37	2	200790473	200790473	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:200790473G>T	ENST00000319974.5	+	2	1205	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	341						extracellular region (GO:0005576)		p.R341I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GATCCAATGAGATCTTGGATT	0.393																																					p.R341I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022T	2						.						104.0	98.0	100.0					2																	200790473		1880	4099	5979	200498718	SO:0001583	missense	205327	exon2				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.1022G>T	2.37:g.200790473G>T	ENSP00000312770:p.Arg341Ile	Somatic		Capture	Illumina HiSeq	Phase_I	200498718	NM_153689	Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567818	0.86439	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85819	0.1384	9	0.87932	D	0	-18.7895	18.6669	0.91493	0.0:0.0:1.0:0.0	.	341	Q8N8R5	CB069_HUMAN	I	341	.	ENSP00000312770:R341I	R	+	2	0	C2orf69	200498718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	AGA		0.393	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689	
KCTD18	130535	broad.mit.edu	37	2	201371606	201371606	+	Missense_Mutation	SNP	C	C	T	rs367891868		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:201371606C>T	ENST00000359878.3	-	2	644	c.134G>A	c.(133-135)cGc>cAc	p.R45H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R45H|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	45	BTB.				protein homooligomerization (GO:0051260)			p.R45H(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TAGAGGAAAGCGACCACTGAA	0.433																																					p.R45H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	2						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	83.0	81.0		134	5.5	1.0	2		81	0,8600		0,0,4300	no	missense	KCTD18	NM_152387.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	45/427	201371606	1,13005	2203	4300	6503	201079851	SO:0001583	missense	130535	exon2			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.134G>A	2.37:g.201371606C>T	ENSP00000352941:p.Arg45His	Somatic		Capture	Illumina HiSeq	Phase_I	201079851	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292614	0.95546	2.27E-4	0.0	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76968	-1.06;-1.06	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000004	D	0.87224	0.6124	M	0.64997	1.995	0.48452	D	0.999654	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.87601	0.2497	10	0.87932	D	0	-19.2026	19.1052	0.93291	0.0:1.0:0.0:0.0	.	45;45	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	H	45	ENSP00000352941:R45H;ENSP00000386751:R45H	ENSP00000352941:R45H	R	-	2	0	KCTD18	201079851	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.233000	0.51311	2.840000	0.97914	0.655000	0.94253	CGC		0.433	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
SGOL2	151246	broad.mit.edu	37	2	201436936	201436936	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:201436936A>C	ENST00000357799.4	+	7	1965	c.1867A>C	c.(1867-1869)Att>Ctt	p.I623L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	623					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.I623L(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GACAGAAATAATTTCTGGAAT	0.323																																					p.I623L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1867C	2						.						74.0	77.0	76.0					2																	201436936		1785	3973	5758	201145181	SO:0001583	missense	151246	exon7			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1867A>C	2.37:g.201436936A>C	ENSP00000350447:p.Ile623Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201145181	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140282	0.56936	.	.	ENSG00000163535	ENST00000357799	T	0.16196	2.36	5.25	4.02	0.46733	.	0.000000	0.53938	D	0.000050	T	0.22513	0.0543	L	0.60455	1.87	0.80722	D	1	P;P;P	0.45474	0.859;0.859;0.859	P;P;P	0.45610	0.487;0.487;0.487	T	0.01566	-1.1323	10	0.66056	D	0.02	-18.1968	11.5804	0.50887	0.852:0.148:0.0:0.0	.	623;623;623	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	L	623	ENSP00000350447:I623L	ENSP00000350447:I623L	I	+	1	0	SGOL2	201145181	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.056000	0.30480	2.330000	0.79161	0.477000	0.44152	ATT		0.323	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
CLK1	1195	broad.mit.edu	37	2	201726121	201726121	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:201726121C>A	ENST00000321356.4	-	3	365	c.230G>T	c.(229-231)aGa>aTa	p.R77I	Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Missense_Mutation_p.R119I	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	77					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R77I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAGTCATTTCTGTACTCATC	0.373																																					p.R119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356T	2						.						134.0	129.0	131.0					2																	201726121		2203	4300	6503	201434366	SO:0001583	missense	1195	exon3			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.230G>T	2.37:g.201726121C>A	ENSP00000326830:p.Arg77Ile	Somatic		Capture	Illumina HiSeq	Phase_I	201434366	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682396	0.68157	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.68903	-0.35;-0.36	4.66	4.66	0.58398	.	0.182425	0.48767	D	0.000171	T	0.77226	0.4099	M	0.82323	2.585	0.53688	D	0.999974	P;P	0.48640	0.855;0.913	B;P	0.50617	0.393;0.646	T	0.82380	-0.0486	10	0.87932	D	0	.	15.7242	0.77740	0.0:1.0:0.0:0.0	.	119;77	B4DFW7;P49759	.;CLK1_HUMAN	I	77;77;119	ENSP00000326830:R77I;ENSP00000394734:R119I	ENSP00000326830:R77I	R	-	2	0	CLK1	201434366	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.383000	0.59600	2.297000	0.77311	0.650000	0.86243	AGA		0.373	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		
NDUFB3	4709	broad.mit.edu	37	2	201950242	201950242	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:201950242C>A	ENST00000237889.4	+	3	524	c.201C>A	c.(199-201)ttC>ttA	p.F67L	NDUFB3_ENST00000454214.1_Missense_Mutation_p.F67L|NDUFB3_ENST00000433898.1_Missense_Mutation_p.F67L	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	67					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.F67L(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3						CTGATGTATTCTTTAAAGGAT	0.358																																					p.F67L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C201A	2						.						135.0	136.0	135.0					2																	201950242		2203	4300	6503	201658487	SO:0001583	missense	4709	exon3			AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"""Mitochondrial respiratory chain complex / Complex I"""	7698	protein-coding gene	gene with protein product	"""complex I B12 subunit"""	603839	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"""			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.201C>A	2.37:g.201950242C>A	ENSP00000237889:p.Phe67Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201658487	NM_002491	Q6IB80	Missense_Mutation	SNP	ENST00000237889.4	37	CCDS2336.1	.	.	.	.	.	.	.	.	.	.	C	0.235	-1.017878	0.02078	.	.	ENSG00000119013	ENST00000237889;ENST00000433898;ENST00000454214	T;T;T	0.74106	-0.81;-0.81;-0.81	5.98	-9.66	0.00534	.	0.947020	0.08848	N	0.884913	T	0.51381	0.1671	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36261	-0.9755	8	.	.	.	11.4619	12.2342	0.54505	0.2159:0.2699:0.5142:0.0	.	67	O43676	NDUB3_HUMAN	L	67	ENSP00000237889:F67L;ENSP00000410600:F67L;ENSP00000407336:F67L	.	F	+	3	2	NDUFB3	201658487	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.583000	0.05807	-1.415000	0.02022	-0.262000	0.10625	TTC		0.358	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	NM_002491	
CASP10	843	broad.mit.edu	37	2	202093677	202093677	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202093677G>T	ENST00000272879.5	+	10	1621	c.1437G>T	c.(1435-1437)aaG>aaT	p.K479N	CASP10_ENST00000448480.1_Missense_Mutation_p.K436N	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	479					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.K479N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTCTGGAAAAGACAATGGAAA	0.512																																					p.K479N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1437T	2						.						58.0	54.0	55.0					2																	202093677		2203	4300	6503	201801922	SO:0001583	missense	843	exon10			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1437G>T	2.37:g.202093677G>T	ENSP00000272879:p.Lys479Asn	Somatic		Capture	Illumina HiSeq	Phase_I	201801922	NM_032974	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	4.586	0.108816	0.08780	.	.	ENSG00000003400	ENST00000272879;ENST00000448480	T;T	0.02579	4.31;4.24	2.47	1.44	0.22558	Peptidase C14, caspase precursor p45, core (1);	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	0.999999	B;P	0.37176	0.124;0.586	B;B	0.36378	0.02;0.223	T	0.48969	-0.8987	9	0.23891	T	0.37	.	4.4771	0.11748	0.228:0.0:0.772:0.0	.	436;479	Q92851-5;Q92851	.;CASPA_HUMAN	N	479;436	ENSP00000272879:K479N;ENSP00000396835:K436N	ENSP00000272879:K479N	K	+	3	2	CASP10	201801922	0.427000	0.25514	0.002000	0.10522	0.024000	0.10985	0.551000	0.23361	0.484000	0.27630	0.655000	0.94253	AAG		0.512	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
ALS2CR12	130540	broad.mit.edu	37	2	202153494	202153494	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202153494T>G	ENST00000286190.5	-	14	1268	c.1222A>C	c.(1222-1224)Att>Ctt	p.I408L	ALS2CR12_ENST00000405148.2_Missense_Mutation_p.I408L|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.I385L|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.I385L			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	408					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.I408L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTCTTAGAAATTATCTTTTGC	0.373																																					p.I385L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1153C	2						.						79.0	77.0	78.0					2																	202153494		2203	4300	6503	201861739	SO:0001583	missense	130540	exon15			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1222A>C	2.37:g.202153494T>G	ENSP00000286190:p.Ile408Leu	Somatic		Capture	Illumina HiSeq	Phase_I	201861739	NM_001127391	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	T	3.946	-0.013323	0.07727	.	.	ENSG00000155749	ENST00000286190;ENST00000415745;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.41065	1.04;1.04;1.01;1.01	4.4	1.99	0.26369	.	0.432630	0.19219	N	0.119704	T	0.25975	0.0633	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15867	-1.0422	10	0.25751	T	0.34	-0.4232	6.5021	0.22174	0.0:0.0851:0.1575:0.7574	.	408;385	Q96Q35;G5E9S3	AL2SB_HUMAN;.	L	408;123;408;385;385	ENSP00000286190:I408L;ENSP00000385098:I408L;ENSP00000376086:I385L;ENSP00000412073:I385L	ENSP00000286190:I408L	I	-	1	0	ALS2CR12	201861739	0.049000	0.20398	0.035000	0.18076	0.008000	0.06430	0.151000	0.16283	0.313000	0.23062	-0.338000	0.08134	ATT		0.373	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
TRAK2	66008	broad.mit.edu	37	2	202254068	202254068	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202254068T>C	ENST00000332624.3	-	12	1780	c.1352A>G	c.(1351-1353)gAc>gGc	p.D451G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	451	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.D451G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGTGATTTGTCCTCTGTTTG	0.483																																					p.D451G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1352G	2						.						138.0	134.0	135.0					2																	202254068		2203	4300	6503	201962313	SO:0001583	missense	66008	exon12			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1352A>G	2.37:g.202254068T>C	ENSP00000328875:p.Asp451Gly	Somatic		Capture	Illumina HiSeq	Phase_I	201962313	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	9.094	1.002371	0.19121	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.41758	0.99	5.78	2.13	0.27403	Trafficking kinesin-binding protein domain (1);	1.083960	0.06952	N	0.814828	T	0.26846	0.0657	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.14252	T	0.57	.	6.7762	0.23621	0.0:0.4141:0.0:0.5859	.	451	O60296	TRAK2_HUMAN	G	451;357	ENSP00000328875:D451G	ENSP00000328875:D451G	D	-	2	0	TRAK2	201962313	0.001000	0.12720	0.266000	0.24541	0.066000	0.16364	0.727000	0.25999	0.460000	0.27045	0.528000	0.53228	GAC		0.483	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
ALS2CR11	151254	broad.mit.edu	37	2	202400900	202400900	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202400900G>A	ENST00000286195.3	-	13	1394	c.1350C>T	c.(1348-1350)aaC>aaT	p.N450N	ALS2CR11_ENST00000439140.1_Silent_p.N450N|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Silent_p.N450N	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	450								p.N450N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTGTTTCCTGGTTAGAAATAG	0.378																																					p.N450N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1350T	2						.						165.0	154.0	158.0					2																	202400900		2203	4300	6503	202109145	SO:0001819	synonymous_variant	151254	exon13			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1350C>T	2.37:g.202400900G>A		Somatic		Capture	Illumina HiSeq	Phase_I	202109145	NM_001168217	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	CCDS2349.1																																																																																				0.378	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
MPP4	58538	broad.mit.edu	37	2	202512533	202512533	+	Nonsense_Mutation	SNP	G	G	A	rs369650968		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202512533G>A	ENST00000409474.3	-	21	1807	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	MPP4_ENST00000409143.1_Nonsense_Mutation_p.R476*|RNU6-651P_ENST00000411040.1_RNA|MPP4_ENST00000428900.2_Nonsense_Mutation_p.R510*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R527*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R459*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R490*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R534*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	534	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.R534*(1)		kidney(1)|lung(11)	12						TCATGGGTTCGAACCCCTTGA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		20465	0.0		0.0	False		,,,				2504	0.001				p.R534X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1600T	2						.	G	stop/ARG	0,3648		0,0,1824	97.0	87.0	90.0		1600	3.9	1.0	2		90	1,8171		0,1,4085	no	stop-gained	MPP4	NM_033066.2		0,1,5909	AA,AG,GG		0.0122,0.0,0.0085		534/638	202512533	1,11819	1824	4086	5910	202220778	SO:0001587	stop_gained	58538	exon21			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1600C>T	2.37:g.202512533G>A	ENSP00000387278:p.Arg534*	Somatic		Capture	Illumina HiSeq	Phase_I	202220778	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	38	6.975785	0.97975	0.0	1.22E-4	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	5.74	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9931	0.71406	0.0:0.0:0.7389:0.2611	.	.	.	.	X	534;490;459;534;499;463;510;476;527	.	ENSP00000319363:R490X	R	-	1	2	MPP4	202220778	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	4.119000	0.57891	0.740000	0.32651	0.563000	0.77884	CGA		0.378	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
MPP4	58538	broad.mit.edu	37	2	202545573	202545573	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202545573T>C	ENST00000409474.3	-	10	1124	c.917A>G	c.(916-918)cAc>cGc	p.H306R	MPP4_ENST00000409143.1_Missense_Mutation_p.H279R|MPP4_ENST00000428900.2_Missense_Mutation_p.H306R|MPP4_ENST00000447335.2_Missense_Mutation_p.H306R|MPP4_ENST00000396886.3_Missense_Mutation_p.H262R|MPP4_ENST00000315506.7_Missense_Mutation_p.H293R|MPP4_ENST00000359962.5_Missense_Mutation_p.H306R	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	306	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.H306R(1)		kidney(1)|lung(11)	12						CTTCAGAAGGTGGTTAGAAGG	0.512											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H306R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	2						.						50.0	49.0	49.0					2																	202545573		2014	4160	6174	202253818	SO:0001583	missense	58538	exon10			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.917A>G	2.37:g.202545573T>C	ENSP00000387278:p.His306Arg	Somatic	2130	Capture	Illumina HiSeq	Phase_I	202253818	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885183	0.51908	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.45	4.27	0.50696	Src homology-3 domain (3);Variant SH3 (1);	0.407067	0.29225	N	0.012768	T	0.79299	0.4422	N	0.16368	0.405	0.46096	D	0.99886	P;B;B;B;P;B;B;P;B;B	0.40332	0.579;0.01;0.303;0.443;0.579;0.303;0.163;0.713;0.146;0.163	B;B;B;B;B;B;B;P;B;B	0.52109	0.192;0.007;0.125;0.094;0.247;0.12;0.049;0.69;0.159;0.102	T	0.75039	-0.3458	10	0.24483	T	0.36	.	12.8276	0.57728	0.0:0.0:0.1361:0.8639	.	279;262;306;306;293;306;262;319;306;262	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	R	306;293;262;306;262;235;306;279;306	ENSP00000387278:H306R;ENSP00000319363:H293R;ENSP00000353047:H306R;ENSP00000416781:H306R;ENSP00000387293:H279R;ENSP00000406160:H306R	ENSP00000319363:H293R	H	-	2	0	MPP4	202253818	1.000000	0.71417	0.933000	0.37362	0.731000	0.41821	2.323000	0.43823	1.048000	0.40298	0.528000	0.53228	CAC		0.512	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
ALS2	57679	broad.mit.edu	37	2	202574759	202574759	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202574759G>T	ENST00000264276.6	-	27	4497	c.4125C>A	c.(4123-4125)gcC>gcA	p.A1375A	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1375					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A1375A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGTGTCACAGGCCTGAGTAG	0.463																																					p.A1375A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4125A	2						.						43.0	45.0	44.0					2																	202574759		1941	4136	6077	202283004	SO:0001819	synonymous_variant	57679	exon27			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4125C>A	2.37:g.202574759G>T		Somatic		Capture	Illumina HiSeq	Phase_I	202283004	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.463	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
ALS2	57679	broad.mit.edu	37	2	202588059	202588059	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202588059T>G	ENST00000264276.6	-	22	3990	c.3618A>C	c.(3616-3618)aaA>aaC	p.K1206N	ALS2_ENST00000457679.2_Missense_Mutation_p.K518N	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1206					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.K1206N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCACCATCATTTTATTAAGGT	0.353																																					p.K1206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3618C	2						.						147.0	139.0	142.0					2																	202588059		1850	4101	5951	202296304	SO:0001583	missense	57679	exon22			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3618A>C	2.37:g.202588059T>G	ENSP00000264276:p.Lys1206Asn	Somatic		Capture	Illumina HiSeq	Phase_I	202296304	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031541	0.54790	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.51325	0.71;0.71	5.28	1.42	0.22433	.	0.099330	0.64402	D	0.000002	T	0.63522	0.2518	M	0.80183	2.485	0.48571	D	0.999671	D;P	0.89917	1.0;0.835	D;P	0.76071	0.987;0.728	T	0.58595	-0.7609	10	0.31617	T	0.26	.	8.6211	0.33861	0.0:0.2907:0.0:0.7093	.	1206;1206	Q6IQ41;Q96Q42	.;ALS2_HUMAN	N	1206;518	ENSP00000264276:K1206N;ENSP00000394823:K518N	ENSP00000264276:K1206N	K	-	3	2	ALS2	202296304	0.996000	0.38824	0.998000	0.56505	0.574000	0.36063	0.380000	0.20602	0.013000	0.14918	-0.478000	0.04885	AAA		0.353	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
FZD7	8324	broad.mit.edu	37	2	202900629	202900629	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:202900629C>T	ENST00000286201.1	+	1	1320	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	420					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A420V(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGTGGACGCGCTGCGGGGC	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A420V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1259T	2						.						74.0	65.0	68.0					2																	202900629		2203	4300	6503	202608874	SO:0001583	missense	8324	exon1			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1259C>T	2.37:g.202900629C>T	ENSP00000286201:p.Ala420Val	Somatic	2133	Capture	Illumina HiSeq	Phase_I	202608874	NM_003507	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257468	0.80246	.	.	ENSG00000155760	ENST00000286201	D	0.82526	-1.62	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.192612	0.44097	D	0.000487	D	0.90920	0.7146	M	0.84156	2.68	0.51012	D	0.999908	D	0.60160	0.987	P	0.60236	0.871	D	0.90902	0.4769	10	0.49607	T	0.09	.	19.4726	0.94969	0.0:1.0:0.0:0.0	.	420	O75084	FZD7_HUMAN	V	420	ENSP00000286201:A420V	ENSP00000286201:A420V	A	+	2	0	FZD7	202608874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.618000	0.88619	0.561000	0.74099	GCG		0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
NOP58	51602	broad.mit.edu	37	2	203162130	203162130	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:203162130T>G	ENST00000264279.5	+	11	1326	c.1100T>G	c.(1099-1101)gTt>gGt	p.V367G		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	367	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.V367G(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GCCAAAACCGTTTTGGCTATC	0.383																																					p.V367G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1100G	2						.						97.0	96.0	96.0					2																	203162130		2203	4300	6503	202870375	SO:0001583	missense	51602	exon11				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1100T>G	2.37:g.203162130T>G	ENSP00000264279:p.Val367Gly	Somatic		Capture	Illumina HiSeq	Phase_I	202870375	NM_015934	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	t	15.64	2.893271	0.52121	.	.	ENSG00000055044	ENST00000264279	T	0.63580	-0.05	5.64	1.55	0.23275	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.229737	0.42964	D	0.000628	T	0.48840	0.1522	L	0.35854	1.095	0.58432	D	0.999999	B	0.25563	0.129	B	0.29440	0.102	T	0.44787	-0.9305	10	0.72032	D	0.01	-24.6203	7.3653	0.26770	0.0:0.4492:0.0:0.5508	.	367	Q9Y2X3	NOP58_HUMAN	G	367	ENSP00000264279:V367G	ENSP00000264279:V367G	V	+	2	0	NOP58	202870375	1.000000	0.71417	0.730000	0.30809	0.957000	0.61999	3.929000	0.56514	0.410000	0.25675	0.519000	0.50382	GTT		0.383	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934	
FAM117B	150864	broad.mit.edu	37	2	203621961	203621961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:203621961G>A	ENST00000392238.2	+	6	1130	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	FAM117B_ENST00000303116.6_Missense_Mutation_p.R133H			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	377								p.R133H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GATGGCCATCGTGCTCCACCC	0.483																																					p.R377H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1130A	2						.						51.0	52.0	52.0					2																	203621961		2203	4300	6503	203330206	SO:0001583	missense	150864	exon6			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1130G>A	2.37:g.203621961G>A	ENSP00000376071:p.Arg377His	Somatic		Capture	Illumina HiSeq	Phase_I	203330206	NM_173511	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	35	5.443216	0.96187	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.85	5.85	0.93711	.	0.046997	0.85682	D	0.000000	D	0.83936	0.5362	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84959	0.0876	9	0.87932	D	0	-3.5987	20.1731	0.98165	0.0:0.0:1.0:0.0	.	377	Q6P1L5	F117B_HUMAN	H	133;377	.	ENSP00000306299:R133H	R	+	2	0	FAM117B	203330206	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.109000	0.94291	2.768000	0.95171	0.655000	0.94253	CGT		0.483	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511	
NBEAL1	65065	broad.mit.edu	37	2	204037521	204037521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:204037521C>A	ENST00000449802.1	+	40	6514	c.6181C>A	c.(6181-6183)Ctt>Att	p.L2061I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2061	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.							p.L2061I(1)|p.L771I(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTCGAGATCTTTCCAAACC	0.333																																					p.L2061I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6181A	2						.						142.0	132.0	135.0					2																	204037521		1800	4072	5872	203745766	SO:0001583	missense	65065	exon40			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6181C>A	2.37:g.204037521C>A	ENSP00000399903:p.Leu2061Ile	Somatic		Capture	Illumina HiSeq	Phase_I	203745766	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615327	0.87359	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.87029	-2.2;-2.2	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.95982	3.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95287	0.8391	10	0.87932	D	0	.	9.5838	0.39504	0.0:0.8522:0.0:0.1478	.	2061;2050	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	2061;2061;76	ENSP00000399903:L2061I;ENSP00000388466:L76I	ENSP00000344985:L2061I	L	+	1	0	NBEAL1	203745766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.938000	0.63519	2.941000	0.99782	0.655000	0.94253	CTT		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
ICOS	29851	broad.mit.edu	37	2	204820490	204820490	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:204820490G>A	ENST00000316386.6	+	2	257	c.190G>A	c.(190-192)Gat>Aat	p.D64N	ICOS_ENST00000435193.1_Missense_Mutation_p.D64N	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	64	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D64N(1)		breast(1)|large_intestine(1)|lung(4)	6						AATACTCTGCGATCTCACTAA	0.373																																					p.D64N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	2						.						133.0	127.0	129.0					2																	204820490		2203	4300	6503	204528735	SO:0001583	missense	29851	exon2			AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.190G>A	2.37:g.204820490G>A	ENSP00000319476:p.Asp64Asn	Somatic		Capture	Illumina HiSeq	Phase_I	204528735	NM_012092	Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594630	0.13875	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	T;T	0.28895	1.59;1.59	5.26	2.44	0.29823	Immunoglobulin-like fold (1);	0.728281	0.13097	N	0.414051	T	0.19446	0.0467	L	0.38838	1.175	0.09310	N	1	B;B;B	0.26902	0.045;0.163;0.045	B;B;B	0.20384	0.016;0.029;0.016	T	0.24693	-1.0153	10	0.21540	T	0.41	-3.6377	5.0582	0.14544	0.1768:0.0:0.6575:0.1656	.	64;64;64	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	N	64	ENSP00000319476:D64N;ENSP00000415951:D64N	ENSP00000319476:D64N	D	+	1	0	ICOS	204528735	0.961000	0.32948	0.006000	0.13384	0.081000	0.17604	1.672000	0.37523	0.290000	0.22444	-0.140000	0.14226	GAT		0.373	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092	
ZDBF2	57683	broad.mit.edu	37	2	207171021	207171021	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207171021A>G	ENST00000374423.3	+	5	2155	c.1769A>G	c.(1768-1770)gAg>gGg	p.E590G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	590							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E590G(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCTCTTGAGTCAGTAGTT	0.403																																					p.E590G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1769G	2						.						108.0	94.0	98.0					2																	207171021		1887	4116	6003	206879266	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1769A>G	2.37:g.207171021A>G	ENSP00000363545:p.Glu590Gly	Somatic		Capture	Illumina HiSeq	Phase_I	206879266	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193655	0.58017	.	.	ENSG00000204186	ENST00000374423	T	0.46063	0.88	3.66	2.51	0.30379	.	0.674101	0.12306	N	0.480663	T	0.19446	0.0467	N	0.11201	0.11	0.09310	N	1	B	0.34061	0.436	B	0.24974	0.057	T	0.09975	-1.0650	10	0.51188	T	0.08	.	5.5836	0.17262	0.8756:0.0:0.1244:0.0	.	590	Q9HCK1	ZDBF2_HUMAN	G	590	ENSP00000363545:E590G	ENSP00000363545:E590G	E	+	2	0	ZDBF2	206879266	0.805000	0.28982	0.297000	0.24988	0.943000	0.58893	1.086000	0.30853	0.777000	0.33496	0.491000	0.48974	GAG		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207171449	207171449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207171449G>T	ENST00000374423.3	+	5	2583	c.2197G>T	c.(2197-2199)Gag>Tag	p.E733*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	733							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E733*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATCTTAAAGAGTTAAATAT	0.423																																					p.E733X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2197T	2						.						120.0	120.0	120.0					2																	207171449		1836	4089	5925	206879694	SO:0001587	stop_gained	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2197G>T	2.37:g.207171449G>T	ENSP00000363545:p.Glu733*	Somatic		Capture	Illumina HiSeq	Phase_I	206879694	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410523	0.97546	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.29	4.29	0.51040	.	0.594011	0.13984	N	0.349306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.5478	0.56210	0.0:0.0:1.0:0.0	.	.	.	.	X	733	.	ENSP00000363545:E733X	E	+	1	0	ZDBF2	206879694	0.999000	0.42202	0.134000	0.22075	0.028000	0.11728	3.817000	0.55668	2.679000	0.91253	0.655000	0.94253	GAG		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207171714	207171714	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207171714G>T	ENST00000374423.3	+	5	2848	c.2462G>T	c.(2461-2463)aGt>aTt	p.S821I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	821							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S821I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAAGTAAAAGTAATGAATCT	0.323																																					p.S821I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2462T	2						.						60.0	61.0	60.0					2																	207171714		1841	4094	5935	206879959	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2462G>T	2.37:g.207171714G>T	ENSP00000363545:p.Ser821Ile	Somatic		Capture	Illumina HiSeq	Phase_I	206879959	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005788	0.35415	.	.	ENSG00000204186	ENST00000374423	T	0.54479	0.57	4.5	0.711	0.18162	.	0.295721	0.24708	N	0.036249	T	0.48059	0.1479	L	0.46157	1.445	0.09310	N	1	P	0.50943	0.94	P	0.51079	0.658	T	0.38845	-0.9642	10	0.62326	D	0.03	.	4.2683	0.10775	0.2877:0.1817:0.5306:0.0	.	821	Q9HCK1	ZDBF2_HUMAN	I	821	ENSP00000363545:S821I	ENSP00000363545:S821I	S	+	2	0	ZDBF2	206879959	0.684000	0.27642	0.001000	0.08648	0.656000	0.38851	0.303000	0.19210	0.114000	0.18032	-0.150000	0.13652	AGT		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174190	207174190	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207174190A>C	ENST00000374423.3	+	5	5324	c.4938A>C	c.(4936-4938)aaA>aaC	p.K1646N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1646							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1646N(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTGATGAGAAAATGGTGAAAT	0.383																																					p.K1646N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4938C	2						.						63.0	64.0	64.0					2																	207174190		1839	4086	5925	206882435	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4938A>C	2.37:g.207174190A>C	ENSP00000363545:p.Lys1646Asn	Somatic		Capture	Illumina HiSeq	Phase_I	206882435	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.769903	0.31320	.	.	ENSG00000204186	ENST00000374423	T	0.47869	0.83	3.34	0.591	0.17465	.	.	.	.	.	T	0.34221	0.0890	L	0.48642	1.525	0.09310	N	1	P	0.47762	0.9	B	0.40741	0.339	T	0.16394	-1.0404	9	0.34782	T	0.22	.	3.2455	0.06796	0.4881:0.2073:0.0:0.3046	.	1646	Q9HCK1	ZDBF2_HUMAN	N	1646	ENSP00000363545:K1646N	ENSP00000363545:K1646N	K	+	3	2	ZDBF2	206882435	0.002000	0.14202	0.000000	0.03702	0.022000	0.10575	0.710000	0.25748	0.109000	0.17891	0.533000	0.62120	AAA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174435	207174435	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207174435A>C	ENST00000374423.3	+	5	5569	c.5183A>C	c.(5182-5184)aAa>aCa	p.K1728T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1728							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1728T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATAAAAAAAAACGTTCGAAG	0.448																																					p.K1728T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5183C	2						.						76.0	74.0	75.0					2																	207174435		1868	4106	5974	206882680	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5183A>C	2.37:g.207174435A>C	ENSP00000363545:p.Lys1728Thr	Somatic		Capture	Illumina HiSeq	Phase_I	206882680	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	6.522	0.464481	0.12402	.	.	ENSG00000204186	ENST00000374423	T	0.46063	0.88	3.91	-1.45	0.08828	.	.	.	.	.	T	0.23611	0.0571	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18023	-1.0350	9	0.42905	T	0.14	.	4.0498	0.09790	0.4387:0.3657:0.1956:0.0	.	1728	Q9HCK1	ZDBF2_HUMAN	T	1728	ENSP00000363545:K1728T	ENSP00000363545:K1728T	K	+	2	0	ZDBF2	206882680	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.174000	0.16743	-0.230000	0.09840	-0.313000	0.08912	AAA		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174576	207174576	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207174576A>G	ENST00000374423.3	+	5	5710	c.5324A>G	c.(5323-5325)aAg>aGg	p.K1775R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1775							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1775R(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTGTAAGAAGGTATCTTCT	0.408																																					p.K1775R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5324G	2						.						58.0	59.0	58.0					2																	207174576		1867	4102	5969	206882821	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5324A>G	2.37:g.207174576A>G	ENSP00000363545:p.Lys1775Arg	Somatic		Capture	Illumina HiSeq	Phase_I	206882821	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629986	0.28978	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	5.26	1.5	0.22942	.	.	.	.	.	T	0.35098	0.0920	L	0.50333	1.59	0.09310	N	1	B	0.32203	0.36	B	0.27796	0.083	T	0.32295	-0.9912	9	0.62326	D	0.03	.	3.0159	0.06059	0.5159:0.2777:0.073:0.1334	.	1775	Q9HCK1	ZDBF2_HUMAN	R	1775	ENSP00000363545:K1775R	ENSP00000363545:K1775R	K	+	2	0	ZDBF2	206882821	0.654000	0.27367	0.027000	0.17364	0.009000	0.06853	0.550000	0.23345	0.108000	0.17862	0.528000	0.53228	AAG		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
DYTN	391475	broad.mit.edu	37	2	207530722	207530722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207530722C>T	ENST00000452335.2	-	10	1128	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	338						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.D338N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGCAACTTGTCTTTGTATTGG	0.403																																					p.D338N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1012A	2						.						199.0	177.0	184.0					2																	207530722		1838	4084	5922	207238967	SO:0001583	missense	391475	exon10			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1012G>A	2.37:g.207530722C>T	ENSP00000396593:p.Asp338Asn	Somatic		Capture	Illumina HiSeq	Phase_I	207238967	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415898	0.42817	.	.	ENSG00000232125	ENST00000452335	T	0.14516	2.5	4.33	2.49	0.30216	.	.	.	.	.	T	0.09818	0.0241	N	0.24115	0.695	0.23926	N	0.996446	P	0.46987	0.888	P	0.44732	0.459	T	0.19778	-1.0295	9	0.30078	T	0.28	-1.1681	5.5287	0.16972	0.0:0.6743:0.2158:0.1099	.	338	A2CJ06	DYTN_HUMAN	N	338	ENSP00000396593:D338N	ENSP00000396593:D338N	D	-	1	0	DYTN	207238967	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	0.928000	0.28831	0.739000	0.32628	0.561000	0.74099	GAC		0.403	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
DYTN	391475	broad.mit.edu	37	2	207564912	207564912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207564912G>A	ENST00000452335.2	-	6	628	c.512C>T	c.(511-513)gCt>gTt	p.A171V	DYTN_ENST00000477734.1_5'UTR|Y_RNA_ENST00000384589.1_RNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	171						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A171V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGGGCACAGAGCACGACTCTC	0.537																																					p.A171V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C512T	2						.						102.0	103.0	103.0					2																	207564912		1961	4149	6110	207273157	SO:0001583	missense	391475	exon6			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.512C>T	2.37:g.207564912G>A	ENSP00000396593:p.Ala171Val	Somatic		Capture	Illumina HiSeq	Phase_I	207273157	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272662	0.40194	.	.	ENSG00000232125	ENST00000452335	T	0.74737	-0.87	6.04	4.22	0.49857	EF-hand domain, type 2 (1);	.	.	.	.	T	0.61714	0.2369	L	0.31157	0.91	0.09310	N	1	B	0.24768	0.111	B	0.26094	0.066	T	0.54569	-0.8274	9	0.54805	T	0.06	1.1874	6.2578	0.20884	0.0701:0.133:0.6589:0.1381	.	171	A2CJ06	DYTN_HUMAN	V	171	ENSP00000396593:A171V	ENSP00000396593:A171V	A	-	2	0	DYTN	207273157	0.001000	0.12720	0.001000	0.08648	0.992000	0.81027	1.106000	0.31098	0.870000	0.35726	0.561000	0.74099	GCT		0.537	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
MDH1B	130752	broad.mit.edu	37	2	207604327	207604327	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207604327C>A	ENST00000374412.3	-	11	1793	c.1518G>T	c.(1516-1518)gaG>gaT	p.E506D	MDH1B_ENST00000449792.1_Missense_Mutation_p.E408D|MDH1B_ENST00000454776.2_Missense_Mutation_p.E505D	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	506					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.E506D(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CATTTAGGAACTCAAGACTCT	0.353																																					p.E506D	Pancreas(76;29 1355 28675 37177 51207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1518T	2						.						100.0	98.0	99.0					2																	207604327		2203	4300	6503	207312572	SO:0001583	missense	130752	exon11				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1518G>T	2.37:g.207604327C>A	ENSP00000363533:p.Glu506Asp	Somatic		Capture	Illumina HiSeq	Phase_I	207312572	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865814	0.32977	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34072	1.41;1.38;1.4	4.51	-0.848	0.10727	.	0.517876	0.14812	N	0.297013	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	1	P;P	0.40476	0.718;0.596	B;B	0.35607	0.206;0.102	T	0.12915	-1.0529	10	0.87932	D	0	-0.1657	4.0694	0.09876	0.0:0.362:0.1918:0.4462	.	505;506	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	D	506;408;505	ENSP00000363533:E506D;ENSP00000416577:E408D;ENSP00000389916:E505D	ENSP00000363533:E506D	E	-	3	2	MDH1B	207312572	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.032000	0.12266	-0.207000	0.10187	0.650000	0.86243	GAG		0.353	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
FASTKD2	22868	broad.mit.edu	37	2	207632019	207632019	+	Missense_Mutation	SNP	G	G	A	rs150994958	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207632019G>A	ENST00000236980.6	+	2	950	c.602G>A	c.(601-603)cGc>cAc	p.R201H	MDH1B_ENST00000449792.1_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R201H|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R201H	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	201					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R201H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GACCAGAAGCGCTTTGAAAAA	0.413																																					p.R201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	2						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	124.0	125.0	124.0		602,602,602	3.4	1.0	2	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	201/711,201/711,201/711	207632019	1,13005	2203	4300	6503	207340264	SO:0001583	missense	22868	exon2			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.602G>A	2.37:g.207632019G>A	ENSP00000236980:p.Arg201His	Somatic		Capture	Illumina HiSeq	Phase_I	207340264	NM_001136194	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248434	0.80024	0.0	1.16E-4	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.19532	2.14;2.14;2.14	5.31	3.39	0.38822	.	0.148075	0.44902	N	0.000420	T	0.41834	0.1176	M	0.72894	2.215	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.25152	-1.0140	10	0.49607	T	0.09	-13.2258	10.168	0.42893	0.0745:0.1372:0.7883:0.0	.	201;201	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	H	201	ENSP00000236980:R201H;ENSP00000385990:R201H;ENSP00000384929:R201H	ENSP00000236980:R201H	R	+	2	0	FASTKD2	207340264	0.909000	0.30893	0.982000	0.44146	0.830000	0.47004	1.394000	0.34509	1.230000	0.43646	0.561000	0.74099	CGC		0.413	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
FASTKD2	22868	broad.mit.edu	37	2	207651596	207651596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:207651596G>T	ENST00000236980.6	+	8	1915	c.1567G>T	c.(1567-1569)Gac>Tac	p.D523Y	FASTKD2_ENST00000402774.3_Missense_Mutation_p.D523Y|FASTKD2_ENST00000403094.3_Missense_Mutation_p.D523Y	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	523					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.D523Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCTGCAAAAAGACATCATCAG	0.398																																					p.D523Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567T	2						.						90.0	86.0	88.0					2																	207651596		2203	4300	6503	207359841	SO:0001583	missense	22868	exon8			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1567G>T	2.37:g.207651596G>T	ENSP00000236980:p.Asp523Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	207359841	NM_001136194	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	g	6.841	0.524428	0.13066	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.47177	0.85;0.85;0.85	5.4	1.0	0.19881	FAST kinase leucine-rich (1);	0.526306	0.21044	N	0.081119	T	0.58264	0.2110	M	0.62723	1.935	0.22112	N	0.999354	D;D	0.71674	0.997;0.998	D;D	0.68943	0.912;0.961	T	0.48969	-0.8987	10	0.33141	T	0.24	-32.0952	9.488	0.38942	0.3522:0.0:0.6478:0.0	.	523;523	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	Y	523	ENSP00000236980:D523Y;ENSP00000385990:D523Y;ENSP00000384929:D523Y	ENSP00000236980:D523Y	D	+	1	0	FASTKD2	207359841	1.000000	0.71417	0.073000	0.20177	0.050000	0.14768	1.650000	0.37292	0.271000	0.22005	-0.148000	0.13756	GAC		0.398	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
C2orf80	389073	broad.mit.edu	37	2	209045992	209045992	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:209045992G>A	ENST00000341287.4	-	5	439	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	C2orf80_ENST00000451346.1_Missense_Mutation_p.R63C|C2orf80_ENST00000453017.1_Missense_Mutation_p.R82C	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	82			R -> H (in dbSNP:rs11898181).					p.R82C(2)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CGTTCTCTACGATTTGGATAT	0.353																																					p.R82C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C244T	2						.						122.0	112.0	115.0					2																	209045992		1832	4080	5912	208754237	SO:0001583	missense	389073	exon5			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.244C>T	2.37:g.209045992G>A	ENSP00000343171:p.Arg82Cys	Somatic		Capture	Illumina HiSeq	Phase_I	208754237	NM_001099334	A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.839385|2.839385	0.51057|0.51057	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000453017|ENST00000428015	T;T;T;T|.	0.50001|.	1.29;1.74;1.71;0.76|.	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	0.710160|.	0.13336|.	N|.	0.395521|.	T|T	0.50343|0.50343	0.1610|0.1610	L|L	0.29908|0.29908	0.895|0.895	0.44985|0.44985	D|D	0.998002|0.998002	D|.	0.69078|.	0.997|.	P|.	0.54100|.	0.742|.	T|T	0.43442|0.43442	-0.9391|-0.9391	10|5	0.87932|.	D|.	0|.	0.2043|0.2043	10.7314|10.7314	0.46098|0.46098	0.0901:0.0:0.9099:0.0|0.0901:0.0:0.9099:0.0	.|.	82|.	Q0P641|.	CB080_HUMAN|.	C|L	7;82;63;82|33	ENSP00000389385:R7C;ENSP00000343171:R82C;ENSP00000405393:R63C;ENSP00000397144:R82C|.	ENSP00000343171:R82C|.	R|S	-|-	1|2	0|0	C2orf80|C2orf80	208754237|208754237	0.972000|0.972000	0.33761|0.33761	0.880000|0.880000	0.34516|0.34516	0.275000|0.275000	0.26752|0.26752	1.767000|1.767000	0.38501|0.38501	1.462000|1.462000	0.47948|0.47948	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.353	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334	
IDH1	3417	broad.mit.edu	37	2	209103914	209103914	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:209103914C>T	ENST00000415913.1	-	9	1416	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	IDH1_ENST00000345146.2_Silent_p.K345K|IDH1_ENST00000446179.1_Silent_p.K345K	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	345					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.K345K(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TGTTATCAAGCTTTGCTCTGT	0.428			Mis		gliobastoma																																p.K345K	Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1035A	2						.						73.0	70.0	71.0					2																	209103914		2203	4300	6503	208812159	SO:0001819	synonymous_variant	3417	exon9				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.1035G>A	2.37:g.209103914C>T		Somatic		Capture	Illumina HiSeq	Phase_I	208812159	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Silent	SNP	ENST00000415913.1	37	CCDS2381.1																																																																																				0.428	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
PIKFYVE	200576	broad.mit.edu	37	2	209150642	209150642	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:209150642A>C	ENST00000264380.4	+	6	964	c.806A>C	c.(805-807)gAt>gCt	p.D269A	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.D183A|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.D172A|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.D269A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	269					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.D269A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTAGAGGATGATTTGGCCTGG	0.398																																					p.D269A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A806C	2						.						105.0	111.0	109.0					2																	209150642		2203	4300	6503	208858887	SO:0001583	missense	200576	exon6			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.806A>C	2.37:g.209150642A>C	ENSP00000264380:p.Asp269Ala	Somatic		Capture	Illumina HiSeq	Phase_I	208858887	NM_001178000	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109353	0.56398	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.65549	1.59;-0.16;1.73	5.92	4.77	0.60923	.	0.057817	0.64402	D	0.000003	T	0.66771	0.2823	L	0.27053	0.805	0.53688	D	0.999973	P;P;D;B;D	0.67145	0.7;0.483;0.982;0.131;0.996	B;B;P;B;D	0.78314	0.172;0.084;0.84;0.039;0.991	T	0.67604	-0.5628	10	0.51188	T	0.08	-11.2551	11.8993	0.52673	0.9323:0.0:0.0677:0.0	.	269;269;183;269;172	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	A	172;269;269;183;269	ENSP00000264380:D269A;ENSP00000384356:D269A;ENSP00000405736:D269A	ENSP00000264380:D269A	D	+	2	0	PIKFYVE	208858887	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.074000	0.40909	-0.250000	0.11733	GAT		0.398	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209190652	209190652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:209190652G>T	ENST00000264380.4	+	20	3275	c.3117G>T	c.(3115-3117)aaG>aaT	p.K1039N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1039					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.K1039N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATAAACGAAAGACTTATTCTT	0.413																																					p.K1039N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3117T	2						.						95.0	99.0	98.0					2																	209190652		2203	4300	6503	208898897	SO:0001583	missense	200576	exon20			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3117G>T	2.37:g.209190652G>T	ENSP00000264380:p.Lys1039Asn	Somatic		Capture	Illumina HiSeq	Phase_I	208898897	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173145	0.38413	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28454	1.61;1.76	6.17	5.29	0.74685	.	0.060947	0.64402	D	0.000005	T	0.47911	0.1471	M	0.67953	2.075	0.80722	D	1	D;P	0.76494	0.999;0.682	D;B	0.78314	0.991;0.205	T	0.44757	-0.9307	10	0.18276	T	0.48	-10.9236	9.4123	0.38500	0.2556:0.0:0.7444:0.0	.	1039;983	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	N	1039;615;983	ENSP00000264380:K1039N;ENSP00000405736:K983N	ENSP00000264380:K1039N	K	+	3	2	PIKFYVE	208898897	1.000000	0.71417	0.996000	0.52242	0.638000	0.38207	3.643000	0.54374	1.616000	0.50265	0.655000	0.94253	AAG		0.413	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209219304	209219304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:209219304G>A	ENST00000264380.4	+	41	6274	c.6116G>A	c.(6115-6117)cGa>cAa	p.R2039Q		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	2039	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R2039Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTATATTCGAACATTTACA	0.318																																					p.R2039Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6116A	2						.						110.0	112.0	111.0					2																	209219304		2203	4299	6502	208927549	SO:0001583	missense	200576	exon41			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.6116G>A	2.37:g.209219304G>A	ENSP00000264380:p.Arg2039Gln	Somatic		Capture	Illumina HiSeq	Phase_I	208927549	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749724	0.96890	.	.	ENSG00000115020	ENST00000264380	T	0.34667	1.35	6.06	6.06	0.98353	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54193	-0.8330	10	0.87932	D	0	-11.3088	20.6208	0.99490	0.0:0.0:1.0:0.0	.	2039	Q9Y2I7	FYV1_HUMAN	Q	2039	ENSP00000264380:R2039Q	ENSP00000264380:R2039Q	R	+	2	0	PIKFYVE	208927549	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.593000	0.98250	2.882000	0.98803	0.655000	0.94253	CGA		0.318	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
MAP2	4133	broad.mit.edu	37	2	210558716	210558716	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:210558716A>G	ENST00000360351.4	+	7	2328	c.1822A>G	c.(1822-1824)Acc>Gcc	p.T608A	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T604A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	608					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T608A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTCTATTGATACCATGTCTCC	0.448																																					p.T608A	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1822G	2						.						77.0	74.0	75.0					2																	210558716		2203	4300	6503	210266961	SO:0001583	missense	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1822A>G	2.37:g.210558716A>G	ENSP00000353508:p.Thr608Ala	Somatic		Capture	Illumina HiSeq	Phase_I	210266961	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	4.976	0.181276	0.09495	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.22539	1.95;1.95	6.16	2.4	0.29515	MAP2/Tau projection (1);	0.278479	0.31495	N	0.007542	T	0.17195	0.0413	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.22661	-1.0210	10	0.52906	T	0.07	-4.3438	4.34	0.11105	0.5882:0.0:0.1878:0.2239	.	604;608	P11137-3;P11137	.;MAP2_HUMAN	A	608;604	ENSP00000353508:T608A;ENSP00000392164:T604A	ENSP00000353508:T608A	T	+	1	0	MAP2	210266961	0.023000	0.18921	0.504000	0.27639	0.361000	0.29550	0.484000	0.22308	0.171000	0.19730	-0.256000	0.11100	ACC		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210559086	210559086	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:210559086T>G	ENST00000360351.4	+	7	2698	c.2192T>G	c.(2191-2193)aTt>aGt	p.I731S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727S	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	731					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.I731S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCTTCCGATATTCTAACCAAC	0.468																																					p.I731S	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2192G	2						.						138.0	134.0	136.0					2																	210559086		2203	4300	6503	210267331	SO:0001583	missense	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2192T>G	2.37:g.210559086T>G	ENSP00000353508:p.Ile731Ser	Somatic		Capture	Illumina HiSeq	Phase_I	210267331	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447157	0.63178	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.49881	0.1583	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.75484	0.976;0.986	T	0.50145	-0.8862	10	0.87932	D	0	-16.9319	16.4343	0.83869	0.0:0.0:0.0:1.0	.	727;731	P11137-3;P11137	.;MAP2_HUMAN	S	731;727	ENSP00000353508:I731S;ENSP00000392164:I727S	ENSP00000353508:I731S	I	+	2	0	MAP2	210267331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.710000	0.68392	2.285000	0.76669	0.528000	0.53228	ATT		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
APOB	338	broad.mit.edu	37	2	21225496	21225496	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21225496G>T	ENST00000233242.1	-	29	12925	c.12798C>A	c.(12796-12798)atC>atA	p.I4266I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4266					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.I4266M(1)|p.I4266I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATACATCGAGATTACATCTA	0.368																																					p.I4266I												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	c.C12798A	2						.						124.0	136.0	132.0					2																	21225496		2203	4300	6503	21079001	SO:0001819	synonymous_variant	338	exon29			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12798C>A	2.37:g.21225496G>T		Somatic		Capture	Illumina HiSeq	Phase_I	21079001	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21228636	21228636	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21228636G>T	ENST00000233242.1	-	26	11231	c.11104C>A	c.(11104-11106)Ctt>Att	p.L3702I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3702					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L3702I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAACACGAAGATGCTGTCTC	0.418																																					p.L3702I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11104A	2						.						105.0	98.0	100.0					2																	21228636		2203	4300	6503	21082141	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11104C>A	2.37:g.21228636G>T	ENSP00000233242:p.Leu3702Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21082141	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733774	0.15574	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.68331	-0.32	5.65	3.85	0.44370	.	0.287722	0.23731	N	0.045121	T	0.75369	0.3840	M	0.75447	2.3	0.80722	D	1	D	0.56521	0.976	D	0.63113	0.911	T	0.74362	-0.3690	10	0.72032	D	0.01	.	4.9297	0.13910	0.2012:0.0:0.536:0.2628	.	3702	P04114	APOB_HUMAN	I	3702	ENSP00000233242:L3702I	ENSP00000233242:L3702I	L	-	1	0	APOB	21082141	0.997000	0.39634	0.238000	0.24106	0.044000	0.14063	0.865000	0.27940	0.738000	0.32606	0.655000	0.94253	CTT		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21230263	21230263	+	Missense_Mutation	SNP	C	C	A	rs13306196	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21230263C>A	ENST00000233242.1	-	26	9604	c.9477G>T	c.(9475-9477)aaG>aaT	p.K3159N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3159					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K3159N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGAATTCCTTCAAGCCTG	0.358																																					p.K3159N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9477T	2						.						88.0	92.0	91.0					2																	21230263		2203	4300	6503	21083768	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9477G>T	2.37:g.21230263C>A	ENSP00000233242:p.Lys3159Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21083768	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268267	0.40095	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.44881	0.91	5.45	-1.76	0.08006	.	0.000000	0.64402	D	0.000008	T	0.63010	0.2475	M	0.90814	3.15	0.43003	D	0.994523	D	0.76494	0.999	D	0.66196	0.942	T	0.66909	-0.5804	10	0.87932	D	0	.	10.4882	0.44735	0.0:0.5207:0.0:0.4793	.	3159	P04114	APOB_HUMAN	N	3159	ENSP00000233242:K3159N	ENSP00000233242:K3159N	K	-	3	2	APOB	21083768	0.001000	0.12720	0.400000	0.26346	0.962000	0.63368	-0.064000	0.11636	-0.453000	0.07076	-0.251000	0.11542	AAG		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21230394	21230394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21230394C>A	ENST00000233242.1	-	26	9473	c.9346G>T	c.(9346-9348)Gga>Tga	p.G3116*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3116					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G3116*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTATTCCTACATGGGCC	0.388																																					p.G3116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9346T	2						.						104.0	106.0	105.0					2																	21230394		2203	4300	6503	21083899	SO:0001587	stop_gained	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9346G>T	2.37:g.21230394C>A	ENSP00000233242:p.Gly3116*	Somatic		Capture	Illumina HiSeq	Phase_I	21083899	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	49	15.149631	0.99824	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	2.57	0.30868	.	0.729658	0.12627	N	0.452509	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.8514	0.24016	0.2264:0.5938:0.1105:0.0692	.	.	.	.	X	3116	.	ENSP00000233242:G3116X	G	-	1	0	APOB	21083899	0.000000	0.05858	0.645000	0.29479	0.594000	0.36715	0.080000	0.14802	0.774000	0.33427	0.655000	0.94253	GGA		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21232770	21232770	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21232770G>T	ENST00000233242.1	-	26	7097	c.6970C>A	c.(6970-6972)Ctt>Att	p.L2324I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2324				LIG -> PYW (in Ref. 16; AAA51741). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L2324I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCAATAAGATTTATAACA	0.348																																					p.L2324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6970A	2						.						99.0	101.0	101.0					2																	21232770		2203	4300	6503	21086275	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6970C>A	2.37:g.21232770G>T	ENSP00000233242:p.Leu2324Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21086275	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	4.898	0.166873	0.09339	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.76	1.93	0.25924	.	0.505809	0.17636	N	0.167181	T	0.01320	0.0043	M	0.75447	2.3	0.23838	N	0.996708	B	0.18461	0.028	B	0.15870	0.014	T	0.46884	-0.9159	10	0.45353	T	0.12	.	2.2437	0.04026	0.1674:0.1243:0.4535:0.2548	.	2324	P04114	APOB_HUMAN	I	2324	ENSP00000233242:L2324I	ENSP00000233242:L2324I	L	-	1	0	APOB	21086275	0.998000	0.40836	0.003000	0.11579	0.024000	0.10985	3.550000	0.53691	0.073000	0.16731	0.561000	0.74099	CTT		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21235259	21235259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21235259G>A	ENST00000233242.1	-	26	4608	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1494					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S1494L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCATAGAACGAAGAGACTCT	0.468																																					p.S1494L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4481T	2						.						149.0	142.0	144.0					2																	21235259		2203	4300	6503	21088764	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4481C>T	2.37:g.21235259G>A	ENSP00000233242:p.Ser1494Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21088764	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137377	0.56936	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01295	5.04	5.88	5.88	0.94601	.	0.126263	0.36034	N	0.002830	T	0.06096	0.0158	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.09530	-1.0670	10	0.72032	D	0.01	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	1494	P04114	APOB_HUMAN	L	1494	ENSP00000233242:S1494L	ENSP00000233242:S1494L	S	-	2	0	APOB	21088764	1.000000	0.71417	0.651000	0.29564	0.103000	0.19146	6.980000	0.76160	2.782000	0.95742	0.655000	0.94253	TCG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
MAP2	4133	broad.mit.edu	37	2	210559274	210559274	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:210559274G>T	ENST00000360351.4	+	7	2886	c.2380G>T	c.(2380-2382)Gat>Tat	p.D794Y	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D790Y	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	794					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D794Y(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTAGCCAAAGATTTTTACAA	0.428																																					p.D794Y	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2380T	2						.						115.0	114.0	114.0					2																	210559274		2203	4300	6503	210267519	SO:0001583	missense	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2380G>T	2.37:g.210559274G>T	ENSP00000353508:p.Asp794Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	210267519	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275367	0.59649	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20200	2.09;2.09	5.79	5.79	0.91817	MAP2/Tau projection (1);	0.282075	0.30383	N	0.009745	T	0.36771	0.0979	L	0.47716	1.5	0.38570	D	0.949918	P;D	0.53885	0.955;0.963	P;P	0.54629	0.643;0.757	T	0.08743	-1.0707	10	0.87932	D	0	-6.0496	20.0413	0.97592	0.0:0.0:1.0:0.0	.	790;794	P11137-3;P11137	.;MAP2_HUMAN	Y	794;790	ENSP00000353508:D794Y;ENSP00000392164:D790Y	ENSP00000353508:D794Y	D	+	1	0	MAP2	210267519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.183000	0.58317	2.751000	0.94390	0.650000	0.86243	GAT		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
APOB	338	broad.mit.edu	37	2	21250902	21250902	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21250902G>T	ENST00000233242.1	-	14	1992	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	APOB_ENST00000399256.4_Missense_Mutation_p.S622Y	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	622	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S622Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAGTTGAGATTCTTTCAG	0.388																																					p.S622Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1865A	2						.						115.0	119.0	118.0					2																	21250902		2203	4300	6503	21104407	SO:0001583	missense	338	exon14			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1865C>A	2.37:g.21250902G>T	ENSP00000233242:p.Ser622Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21104407	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195534	0.58126	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.05649	5.69;3.41	5.85	4.97	0.65823	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.338930	0.28072	N	0.016701	T	0.20700	0.0498	M	0.76838	2.35	0.28834	N	0.897008	D	0.67145	0.996	P	0.61328	0.887	T	0.05784	-1.0864	10	0.72032	D	0.01	.	10.1204	0.42616	0.0721:0.0:0.7615:0.1665	.	622	P04114	APOB_HUMAN	Y	622	ENSP00000233242:S622Y;ENSP00000382200:S622Y	ENSP00000233242:S622Y	S	-	2	0	APOB	21104407	0.880000	0.30214	0.976000	0.42696	0.898000	0.52572	1.127000	0.31357	1.636000	0.50526	-0.136000	0.14681	TCT		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
LANCL1	10314	broad.mit.edu	37	2	211300171	211300171	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:211300171A>C	ENST00000443314.1	-	8	1405	c.1063T>G	c.(1063-1065)Tgc>Ggc	p.C355G	LANCL1_ENST00000441020.3_Missense_Mutation_p.C355G|LANCL1_ENST00000431941.2_Missense_Mutation_p.C355G|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.C355G|LANCL1_ENST00000233714.4_Missense_Mutation_p.C355G			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	355					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.C355G(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACTCTAAGCACCATTCAGCA	0.368																																					p.C355G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1063G	2						.						128.0	124.0	126.0					2																	211300171		2203	4300	6503	211008416	SO:0001583	missense	10314	exon9			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.1063T>G	2.37:g.211300171A>C	ENSP00000388713:p.Cys355Gly	Somatic		Capture	Illumina HiSeq	Phase_I	211008416	NM_006055		Missense_Mutation	SNP	ENST00000443314.1	37	CCDS2392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.501363|4.501363	0.85176|0.85176	.|.	.|.	ENSG00000115365|ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941|ENST00000412863	T;T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99;0.99|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78097|0.78097	0.4230|0.4230	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.78932|0.78932	-0.2009|-0.2009	10|5	0.87932|.	D|.	0|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	355|.	O43813|.	LANC1_HUMAN|.	G|G	355|113	ENSP00000388713:C355G;ENSP00000393323:C355G;ENSP00000393597:C355G;ENSP00000233714:C355G;ENSP00000397646:C355G|.	ENSP00000233714:C355G|.	C|V	-|-	1|2	0|0	LANCL1|LANCL1	211008416|211008416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.962000|8.962000	0.93254|0.93254	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TGC|GTG		0.368	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	
LANCL1	10314	broad.mit.edu	37	2	211341094	211341094	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:211341094A>C	ENST00000443314.1	-	1	369	c.27T>G	c.(25-27)ccT>ccG	p.P9P	CPS1_ENST00000430249.2_5'Flank|LANCL1_ENST00000441020.3_Silent_p.P9P|LANCL1_ENST00000431941.2_Silent_p.P9P|LANCL1_ENST00000450366.2_Silent_p.P9P|LANCL1_ENST00000233714.4_Silent_p.P9P			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	9					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.P9P(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		AATCAGCATAAGGATTCGGGA	0.552																																					p.P9P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T27G	2						.						53.0	51.0	52.0					2																	211341094		2203	4300	6503	211049339	SO:0001819	synonymous_variant	10314	exon2			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.27T>G	2.37:g.211341094A>C		Somatic		Capture	Illumina HiSeq	Phase_I	211049339	NM_006055		Silent	SNP	ENST00000443314.1	37	CCDS2392.1																																																																																				0.552	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	
APOB	338	broad.mit.edu	37	2	21265342	21265342	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21265342G>A	ENST00000233242.1	-	3	255	c.128C>T	c.(127-129)gCg>gTg	p.A43V	APOB_ENST00000399256.4_Missense_Mutation_p.A43V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	43	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A43V(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCGGGTCGCATCTTCTAA	0.517											OREG0014485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A43V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C128T	2						.						121.0	104.0	110.0					2																	21265342		2203	4300	6503	21118847	SO:0001583	missense	338	exon3			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.128C>T	2.37:g.21265342G>A	ENSP00000233242:p.Ala43Val	Somatic	747	Capture	Illumina HiSeq	Phase_I	21118847	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460587	0.63513	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.05649	5.67;3.41	5.18	5.18	0.71444	.	0.315283	0.26959	N	0.021631	T	0.12092	0.0294	L	0.36672	1.1	0.33807	D	0.627409	D	0.65815	0.995	P	0.51193	0.662	T	0.01488	-1.1342	10	0.72032	D	0.01	.	18.3477	0.90327	0.0:0.0:1.0:0.0	.	43	P04114	APOB_HUMAN	V	43	ENSP00000233242:A43V;ENSP00000382200:A43V	ENSP00000233242:A43V	A	-	2	0	APOB	21118847	0.991000	0.36638	0.798000	0.32154	0.215000	0.24574	4.627000	0.61276	2.793000	0.96121	0.655000	0.94253	GCG		0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CPS1	1373	broad.mit.edu	37	2	211441192	211441192	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:211441192A>G	ENST00000233072.5	+	3	555	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	CPS1_ENST00000430249.2_Missense_Mutation_p.Y126C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	120	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.Y120C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTTAGCAAATATTTGGAGTCT	0.423																																					p.Y120C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A359G	2						.						148.0	139.0	142.0					2																	211441192		2203	4300	6503	211149437	SO:0001583	missense	1373	exon3			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.359A>G	2.37:g.211441192A>G	ENSP00000233072:p.Tyr120Cys	Somatic		Capture	Illumina HiSeq	Phase_I	211149437	NM_001875	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556654	0.45487	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.95238	-3.65;-3.65;-3.38;-3.38;-3.38	5.97	4.83	0.62350	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.384378	0.30109	N	0.010399	D	0.96275	0.8785	M	0.87758	2.905	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.60345	0.873;0.873	D	0.95221	0.8334	10	0.59425	D	0.04	-2.5728	5.7932	0.18371	0.6813:0.0:0.0771:0.2415	.	130;120	Q59HF8;P31327	.;CPSM_HUMAN	C	120;120;126;126;128;120;120	ENSP00000388496:Y120C;ENSP00000430697:Y120C;ENSP00000430644:Y126C;ENSP00000402608:Y126C;ENSP00000233072:Y120C	ENSP00000233072:Y120C	Y	+	2	0	CPS1	211149437	1.000000	0.71417	0.766000	0.31476	0.336000	0.28762	5.258000	0.65479	1.093000	0.41377	-0.250000	0.11733	TAT		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ERBB4	2066	broad.mit.edu	37	2	212293206	212293206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:212293206C>T	ENST00000342788.4	-	22	2956	c.2646G>A	c.(2644-2646)atG>atA	p.M882I	ERBB4_ENST00000402597.1_Missense_Mutation_p.M872I|ERBB4_ENST00000436443.1_Missense_Mutation_p.M882I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M882I(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTTAATTGGCATCTATAGAG	0.318										TSP Lung(8;0.080)																											p.M882I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2646A	2						.						72.0	73.0	73.0					2																	212293206		2203	4297	6500	212001451	SO:0001583	missense	2066	exon22			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2646G>A	2.37:g.212293206C>T	ENSP00000342235:p.Met882Ile	Somatic		Capture	Illumina HiSeq	Phase_I	212001451	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060166	0.76074	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.61392	0.11;0.11;0.11	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.034207	0.85682	N	0.000000	T	0.51753	0.1693	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.26876	0.134;0.029;0.134;0.162	B;B;B;B	0.34873	0.12;0.061;0.12;0.191	T	0.52268	-0.8598	10	0.66056	D	0.02	.	19.9116	0.97026	0.0:1.0:0.0:0.0	.	872;872;882;882	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	I	882;882;872	ENSP00000342235:M882I;ENSP00000403204:M882I;ENSP00000385565:M872I	ENSP00000342235:M882I	M	-	3	0	ERBB4	212001451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.616000	0.83018	2.710000	0.92621	0.650000	0.86243	ATG		0.318	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
SPAG16	79582	broad.mit.edu	37	2	215013920	215013920	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215013920G>A	ENST00000331683.5	+	15	1745	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	SPAG16_ENST00000374309.3_Silent_p.R456R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	550					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R550R(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGGACTTTCGGAAGCTGTTAC	0.383																																					p.R550R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1650A	2						.						169.0	167.0	168.0					2																	215013920		2203	4300	6503	214722165	SO:0001819	synonymous_variant	79582	exon15			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1650G>A	2.37:g.215013920G>A		Somatic		Capture	Illumina HiSeq	Phase_I	214722165	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.383	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
SPAG16	79582	broad.mit.edu	37	2	215275017	215275017	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215275017G>A	ENST00000331683.5	+	16	1969	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	SPAG16_ENST00000374309.3_Missense_Mutation_p.G531D|VWC2L_ENST00000312504.5_5'Flank|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_5'Flank	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	625					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G625D(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCTCTGACGGCACAGTTCGA	0.512																																					p.G625D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874A	2						.						117.0	111.0	113.0					2																	215275017		2203	4300	6503	214983262	SO:0001583	missense	79582	exon16			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1874G>A	2.37:g.215275017G>A	ENSP00000332592:p.Gly625Asp	Somatic		Capture	Illumina HiSeq	Phase_I	214983262	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232969	0.79688	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.65732	-0.17;-0.17;-0.17	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000022	T	0.79173	0.4401	M	0.78916	2.43	0.51012	D	0.999906	D;P;D	0.89917	1.0;0.909;1.0	D;P;D	0.97110	1.0;0.688;1.0	T	0.75434	-0.3319	10	0.26408	T	0.33	.	17.8811	0.88841	0.0:0.0:1.0:0.0	.	531;565;625	B4DYB5;Q4G1A2;Q8N0X2	.;.;SPG16_HUMAN	D	625;531;249	ENSP00000332592:G625D;ENSP00000363428:G531D;ENSP00000416600:G249D	ENSP00000332592:G625D	G	+	2	0	SPAG16	214983262	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.853000	0.69496	2.737000	0.93849	0.563000	0.77884	GGC		0.512	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
ABCA12	26154	broad.mit.edu	37	2	215797436	215797436	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215797436C>T	ENST00000272895.7	-	53	7929	c.7710G>A	c.(7708-7710)aaG>aaA	p.K2570K	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.K2252K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2570					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.K2570K(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCATAGGACTTCTGGTCTT	0.388																																					p.K2570K	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7710A	2						.						120.0	116.0	117.0					2																	215797436		2203	4300	6503	215505681	SO:0001819	synonymous_variant	26154	exon53			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7710G>A	2.37:g.215797436C>T		Somatic		Capture	Illumina HiSeq	Phase_I	215505681	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215821483	215821483	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215821483A>G	ENST00000272895.7	-	42	6356	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.V1728A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2046					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.V2046A(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAAAACGCTACAGGCACCAA	0.338																																					p.V2046A	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6137C	2						.						95.0	95.0	95.0					2																	215821483		2203	4300	6503	215529728	SO:0001583	missense	26154	exon42			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6137T>C	2.37:g.215821483A>G	ENSP00000272895:p.Val2046Ala	Somatic		Capture	Illumina HiSeq	Phase_I	215529728	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184092	0.38609	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82167	-1.58;-1.58	5.69	5.69	0.88448	.	0.106709	0.41605	D	0.000859	D	0.83450	0.5257	N	0.25245	0.725	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.66497	0.944;0.928	T	0.80544	-0.1335	10	0.18276	T	0.48	.	15.6101	0.76710	1.0:0.0:0.0:0.0	.	2046;1728	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	A	2046;1728	ENSP00000272895:V2046A;ENSP00000374312:V1728A	ENSP00000272895:V2046A	V	-	2	0	ABCA12	215529728	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.591000	0.67536	2.173000	0.68751	0.533000	0.62120	GTA		0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215865528	215865528	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215865528C>A	ENST00000272895.7	-	22	3299	c.3080G>T	c.(3079-3081)aGt>aTt	p.S1027I	ABCA12_ENST00000389661.4_Missense_Mutation_p.S709I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1027					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.S1027I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTTCAATACTATCCTGTAA	0.428																																					p.S1027I	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3080T	2						.						122.0	129.0	127.0					2																	215865528		2203	4300	6503	215573773	SO:0001583	missense	26154	exon22			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3080G>T	2.37:g.215865528C>A	ENSP00000272895:p.Ser1027Ile	Somatic		Capture	Illumina HiSeq	Phase_I	215573773	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964169	0.18583	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95885	-3.84;-3.63	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	L	0.43646	1.37	0.80722	D	1	D;P	0.57899	0.981;0.534	P;P	0.59761	0.863;0.549	D	0.92900	0.6338	10	0.23891	T	0.37	.	10.8045	0.46509	0.0:0.8562:0.0:0.1438	.	1027;709	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	1027;709	ENSP00000272895:S1027I;ENSP00000374312:S709I	ENSP00000272895:S1027I	S	-	2	0	ABCA12	215573773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.110000	0.41873	1.432000	0.47375	0.555000	0.69702	AGT		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215910714	215910714	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:215910714T>G	ENST00000272895.7	-	7	938	c.719A>C	c.(718-720)aAg>aCg	p.K240T		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	240					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.K240T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAACACTATCTTCTGATTGTT	0.363																																					p.K240T	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A719C	2						.						86.0	90.0	88.0					2																	215910714		2203	4300	6503	215618959	SO:0001583	missense	26154	exon7			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.719A>C	2.37:g.215910714T>G	ENSP00000272895:p.Lys240Thr	Somatic		Capture	Illumina HiSeq	Phase_I	215618959	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512623	0.27123	.	.	ENSG00000144452	ENST00000272895	D	0.88586	-2.4	5.62	4.33	0.51752	.	0.659660	0.14983	N	0.287124	T	0.78362	0.4271	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.16722	0.016	T	0.73691	-0.3903	10	0.42905	T	0.14	.	7.7704	0.29004	0.2292:0.0:0.0:0.7708	.	240	Q86UK0	ABCAC_HUMAN	T	240	ENSP00000272895:K240T	ENSP00000272895:K240T	K	-	2	0	ABCA12	215618959	0.741000	0.28217	0.965000	0.40720	0.976000	0.68499	1.213000	0.32407	2.270000	0.75569	0.477000	0.44152	AAG		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
FN1	2335	broad.mit.edu	37	2	216236748	216236748	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:216236748C>A	ENST00000359671.1	-	39	6590	c.6325G>T	c.(6325-6327)Gcc>Tcc	p.A2109S	FN1_ENST00000336916.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.A2019S|FN1_ENST00000323926.6_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.A2200S|FN1_ENST00000357009.2_Intron|FN1_ENST00000446046.1_Intron			P02751	FINC_HUMAN	fibronectin 1	2109	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.?(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTGTAGAGGCATTTGGATTG	0.498																																					p.A2019S												.	.	1	Unknown(1)	large_intestine(1)	c.G6055T	2						.						213.0	192.0	199.0					2																	216236748		2203	4300	6503	215944993	SO:0001583	missense	2335	exon38				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6325G>T	2.37:g.216236748C>A	ENSP00000352696:p.Ala2109Ser	Somatic		Capture	Illumina HiSeq	Phase_I	215944993	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	11.44	1.640508	0.29157	.	.	ENSG00000115414	ENST00000354785;ENST00000265313;ENST00000359671;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T	0.45276	2.47;2.12;1.54;0.9;2.18	6.01	5.14	0.70334	.	0.330741	0.19513	U	0.112478	T	0.30135	0.0755	N	0.22421	0.69	0.80722	D	1	P;B	0.36789	0.57;0.202	B;B	0.40825	0.341;0.167	T	0.04140	-1.0974	10	0.08837	T	0.75	.	11.5603	0.50772	0.0:0.8081:0.1251:0.0668	.	2019;2200	P02751-8;P02751-15	.;.	S	2200;2110;2109;2019;826;203	ENSP00000346839:A2200S;ENSP00000352696:A2109S;ENSP00000348285:A2019S;ENSP00000416139:A826S;ENSP00000392565:A203S	ENSP00000265313:A2110S	A	-	1	0	FN1	215944993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.782000	0.47758	1.568000	0.49683	0.650000	0.86243	GCC		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216272037	216272037	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:216272037T>G	ENST00000359671.1	-	18	2791	c.2526A>C	c.(2524-2526)agA>agC	p.R842S	FN1_ENST00000336916.4_Missense_Mutation_p.R842S|FN1_ENST00000346544.3_Missense_Mutation_p.R842S|FN1_ENST00000421182.1_Missense_Mutation_p.R842S|FN1_ENST00000345488.5_Missense_Mutation_p.R842S|FN1_ENST00000357867.4_Missense_Mutation_p.R842S|FN1_ENST00000443816.1_Missense_Mutation_p.R842S|FN1_ENST00000356005.4_Missense_Mutation_p.R842S|FN1_ENST00000323926.6_Missense_Mutation_p.R842S|FN1_ENST00000432072.2_Missense_Mutation_p.R842S|FN1_ENST00000354785.4_Missense_Mutation_p.R842S|FN1_ENST00000357009.2_Missense_Mutation_p.R842S|FN1_ENST00000446046.1_Missense_Mutation_p.R842S			P02751	FINC_HUMAN	fibronectin 1	842	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R842S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AATAGACTATTCTGTACCCTG	0.438																																					p.R842S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2526C	2						.						166.0	158.0	160.0					2																	216272037		2203	4300	6503	215980282	SO:0001583	missense	2335	exon18				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2526A>C	2.37:g.216272037T>G	ENSP00000352696:p.Arg842Ser	Somatic		Capture	Illumina HiSeq	Phase_I	215980282	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	T	16.29	3.081591	0.55753	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.37	1.42	0.22433	.	0.080082	0.49305	D	0.000143	T	0.65893	0.2735	M	0.73962	2.25	0.51767	D	0.999936	D;D;B;D;D;P;D;D;D;D	0.89917	0.995;1.0;0.357;0.991;0.993;0.877;0.998;0.991;0.991;0.995	D;D;B;D;D;P;D;D;D;D	0.91635	0.991;0.999;0.237;0.991;0.995;0.805;0.998;0.988;0.991;0.991	T	0.62699	-0.6799	10	0.87932	D	0	.	5.936	0.19165	0.0:0.276:0.1269:0.5971	.	842;842;842;842;842;842;842;842;842;842	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	842	ENSP00000394423:R842S;ENSP00000323534:R842S;ENSP00000338200:R842S;ENSP00000350534:R842S;ENSP00000346839:R842S;ENSP00000352696:R842S;ENSP00000265312:R842S;ENSP00000273049:R842S;ENSP00000349509:R842S;ENSP00000410422:R842S;ENSP00000415018:R842S;ENSP00000399538:R842S;ENSP00000348285:R842S	ENSP00000265313:R842S	R	-	3	2	FN1	215980282	0.161000	0.22892	0.890000	0.34922	0.625000	0.37756	-0.336000	0.07863	-0.002000	0.14469	0.533000	0.62120	AGA		0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216289027	216289027	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:216289027C>T	ENST00000359671.1	-	8	1323	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FN1_ENST00000426059.1_Missense_Mutation_p.G353D|FN1_ENST00000336916.4_Missense_Mutation_p.G353D|FN1_ENST00000346544.3_Missense_Mutation_p.G353D|FN1_ENST00000421182.1_Missense_Mutation_p.G353D|FN1_ENST00000345488.5_Missense_Mutation_p.G353D|FN1_ENST00000357867.4_Missense_Mutation_p.G353D|FN1_ENST00000443816.1_Missense_Mutation_p.G353D|FN1_ENST00000356005.4_Missense_Mutation_p.G353D|FN1_ENST00000323926.6_Missense_Mutation_p.G353D|FN1_ENST00000432072.2_Missense_Mutation_p.G353D|FN1_ENST00000354785.4_Missense_Mutation_p.G353D|FN1_ENST00000357009.2_Missense_Mutation_p.G353D|FN1_ENST00000446046.1_Missense_Mutation_p.G353D			P02751	FINC_HUMAN	fibronectin 1	353	Collagen-binding.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G353D(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTTGAGTTGCCACCGTAAGT	0.468																																					p.G353D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	2						.						145.0	128.0	134.0					2																	216289027		2203	4300	6503	215997272	SO:0001583	missense	2335	exon8				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1058G>A	2.37:g.216289027C>T	ENSP00000352696:p.Gly353Asp	Somatic		Capture	Illumina HiSeq	Phase_I	215997272	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.270709	0.95429	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.94794	0.8319	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.969;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.714;1.0;0.999;1.0;0.999;1.0;1.0;1.0	D	0.94707	0.7888	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	353;353;353;353;353;353;353;353;353;353;353	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	D	353	ENSP00000394423:G353D;ENSP00000323534:G353D;ENSP00000338200:G353D;ENSP00000350534:G353D;ENSP00000346839:G353D;ENSP00000352696:G353D;ENSP00000265312:G353D;ENSP00000273049:G353D;ENSP00000349509:G353D;ENSP00000410422:G353D;ENSP00000415018:G353D;ENSP00000399538:G353D;ENSP00000348285:G353D;ENSP00000398907:G353D	ENSP00000265313:G353D	G	-	2	0	FN1	215997272	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.416000	0.80143	2.836000	0.97738	0.655000	0.94253	GGC		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
XRCC5	7520	broad.mit.edu	37	2	217055003	217055003	+	Silent	SNP	G	G	A	rs368212132		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:217055003G>A	ENST00000392133.3	+	19	2351	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	XRCC5_ENST00000392132.2_Silent_p.P630P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	630					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P630P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATGAAACACCGTATTTTATGA	0.393								Non-homologous end-joining					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20359	0.0		0.0	False		,,,				2504	0.0				p.P630P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1890A	2						.	G		1,4405	2.1+/-5.4	0,1,2202	130.0	123.0	125.0		1890	-8.2	0.0	2		125	0,8600		0,0,4300	no	coding-synonymous	XRCC5	NM_021141.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		630/733	217055003	1,13005	2203	4300	6503	216763248	SO:0001819	synonymous_variant	7520	exon17			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1890G>A	2.37:g.217055003G>A		Somatic		Capture	Illumina HiSeq	Phase_I	216763248	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	ENST00000392133.3	37	CCDS2402.1																																																																																				0.393	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
MARCH4	57574	broad.mit.edu	37	2	217142456	217142456	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:217142456G>A	ENST00000273067.4	-	3	2570	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	268						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R268R(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGGTCTTGGCGCTGCCATC	0.567																																					p.R268R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	2						.						179.0	148.0	159.0					2																	217142456		2203	4300	6503	216850701	SO:0001819	synonymous_variant	57574	exon3			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.804C>T	2.37:g.217142456G>A		Somatic		Capture	Illumina HiSeq	Phase_I	216850701	NM_020814	Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	CCDS33376.1																																																																																				0.567	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
SMARCAL1	50485	broad.mit.edu	37	2	217280041	217280041	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:217280041C>A	ENST00000357276.4	+	3	944	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S205Y|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	205					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.S205Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGAACATTTCTTACATCCAT	0.517									Schimke Immuno-Osseous Dysplasia																												p.S205Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614A	2						.						76.0	76.0	76.0					2																	217280041		2203	4300	6503	216988286	SO:0001583	missense	50485	exon3	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.614C>A	2.37:g.217280041C>A	ENSP00000349823:p.Ser205Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	216988286	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016862	0.54576	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.87029	-2.16;-2.16;1.28;-2.2	5.23	4.33	0.51752	.	0.592582	0.15746	N	0.246683	T	0.79890	0.4524	L	0.29908	0.895	0.09310	N	1	P	0.47350	0.894	B	0.41723	0.365	T	0.72475	-0.4282	10	0.72032	D	0.01	-3.1413	8.5914	0.33690	0.1736:0.6588:0.1676:0.0	.	205	Q9NZC9	SMAL1_HUMAN	Y	205;205;104;69	ENSP00000349823:S205Y;ENSP00000350940:S205Y;ENSP00000392997:S104Y;ENSP00000375974:S69Y	ENSP00000349823:S205Y	S	+	2	0	SMARCAL1	216988286	0.001000	0.12720	0.005000	0.12908	0.094000	0.18550	1.037000	0.30241	1.399000	0.46721	0.655000	0.94253	TCT		0.517	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
SMARCAL1	50485	broad.mit.edu	37	2	217341882	217341882	+	Silent	SNP	C	C	T	rs367698810		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:217341882C>T	ENST00000357276.4	+	16	2808	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	SMARCAL1_ENST00000358207.5_Silent_p.S826S|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	826	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.S826S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGACCAGCTCCGTGGGCATTC	0.572									Schimke Immuno-Osseous Dysplasia				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21509	0.0		0.0	False		,,,				2504	0.0				p.S826S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2478T	2						.						113.0	88.0	96.0					2																	217341882		2203	4299	6502	217050127	SO:0001819	synonymous_variant	50485	exon16	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2478C>T	2.37:g.217341882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	217050127	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1																																																																																				0.572	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
TNS1	7145	broad.mit.edu	37	2	218750475	218750475	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:218750475C>A	ENST00000171887.4	-	13	1185	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	TNS1_ENST00000310858.6_Missense_Mutation_p.D276Y|TNS1_ENST00000419504.1_Missense_Mutation_p.D245Y|TNS1_ENST00000430930.1_Missense_Mutation_p.D245Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	245	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.D245Y(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACCAAGATGTCTCCCTTCAAG	0.517																																					p.D245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733T	2						.						160.0	138.0	145.0					2																	218750475		2203	4300	6503	218458720	SO:0001583	missense	7145	exon13			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.733G>T	2.37:g.218750475C>A	ENSP00000171887:p.Asp245Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	218458720	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.243050|4.243050	0.79912|0.79912	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.99214|.	-5.57;-5.57;-5.57;-5.57;-5.57;-5.57|.	4.58|4.58	4.58|4.58	0.56647|0.56647	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86351|0.86351	0.5912|0.5912	M|M	0.93594|0.93594	3.435|3.435	0.80722|0.80722	D|D	1|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|.	0.97110|.	1.0;1.0;0.998;1.0;0.999;1.0|.	D|D	0.90368|0.90368	0.4378|0.4378	10|5	0.87932|.	D|.	0|.	.|.	17.1785|17.1785	0.86848|0.86848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	245;299;276;245;245;245|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	Y|I	245;245;245;370;313;276|20	ENSP00000171887:D245Y;ENSP00000408724:D245Y;ENSP00000406016:D245Y;ENSP00000405460:D370Y;ENSP00000400383:D313Y;ENSP00000308321:D276Y|.	ENSP00000171887:D245Y|.	D|R	-|-	1|2	0|0	TNS1|TNS1	218458720|218458720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	5.794000|5.794000	0.69067|0.69067	2.358000|2.358000	0.79984|0.79984	0.462000|0.462000	0.41574|0.41574	GAC|AGA		0.517	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
RUFY4	285180	broad.mit.edu	37	2	218939912	218939912	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:218939912C>T	ENST00000344321.7	+	9	1215	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	RUFY4_ENST00000374155.3_Silent_p.L253L|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	233							metal ion binding (GO:0046872)	p.L253L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGACAGCAGCTGGCAGGGCT	0.527																																					p.L233L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C697T	2						.						24.0	26.0	25.0					2																	218939912		1951	4153	6104	218648157	SO:0001819	synonymous_variant	285180	exon9			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.697C>T	2.37:g.218939912C>T		Somatic		Capture	Illumina HiSeq	Phase_I	218648157	NM_198483	Q6ZR96	Silent	SNP	ENST00000344321.7	37																																																																																					0.527	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
RUFY4	285180	broad.mit.edu	37	2	218939998	218939998	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:218939998C>T	ENST00000344321.7	+	9	1301	c.783C>T	c.(781-783)taC>taT	p.Y261Y	RUFY4_ENST00000374155.3_Silent_p.Y281Y|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	261							metal ion binding (GO:0046872)	p.Y281Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AACATAGGTACCCCCAGAGCA	0.542																																					p.Y261Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C783T	2						.						23.0	24.0	24.0					2																	218939998		1917	4132	6049	218648243	SO:0001819	synonymous_variant	285180	exon9			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.783C>T	2.37:g.218939998C>T		Somatic		Capture	Illumina HiSeq	Phase_I	218648243	NM_198483	Q6ZR96	Silent	SNP	ENST00000344321.7	37																																																																																					0.542	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
ARPC2	10109	broad.mit.edu	37	2	219103422	219103422	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219103422C>A	ENST00000295685.10	+	5	565	c.304C>A	c.(304-306)Ctt>Att	p.L102I	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.L102I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	102					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)	p.L102I(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCTTGAAAATCTTCCGGCATC	0.363																																					p.L102I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304A	2						.						132.0	137.0	135.0					2																	219103422		2203	4300	6503	218811667	SO:0001583	missense	10109	exon5			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.304C>A	2.37:g.219103422C>A	ENSP00000295685:p.Leu102Ile	Somatic		Capture	Illumina HiSeq	Phase_I	218811667	NM_005731	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182163	0.38511	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	N	0.25286	0.73	0.58432	D	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.16335	-1.0406	9	0.27082	T	0.32	.	10.8812	0.46939	0.0:0.7949:0.0:0.2051	.	102	O15144	ARPC2_HUMAN	I	102	.	ENSP00000295685:L102I	L	+	1	0	ARPC2	218811667	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.035000	0.41155	0.897000	0.36392	-0.253000	0.11424	CTT		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	
GPBAR1	151306	broad.mit.edu	37	2	219127952	219127952	+	Missense_Mutation	SNP	G	G	A	rs200096596	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219127952G>A	ENST00000522678.1	+	2	1373	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	GPBAR1_ENST00000521462.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000479077.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000519574.1_Missense_Mutation_p.E169K	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	169					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)	p.E169K(2)		cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTACCTCGAAGTCTATGG	0.662													G|||	18	0.00359425	0.0	0.0	5008	,	,		16289	0.0		0.0	False		,,,				2504	0.0184				p.S168S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G504A	2						.						48.0	51.0	50.0					2																	219127952		2062	4205	6267	218836196	SO:0001583	missense	151306	exon2			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.505G>A	2.37:g.219127952G>A	ENSP00000430886:p.Glu169Lys	Somatic		Capture	Illumina HiSeq	Phase_I	218836196	NM_001077191	B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698587	0.68386	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.80623	0.4658	M	0.62723	1.935	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.74598	-0.3612	10	0.08179	T	0.78	-4.906	18.1521	0.89677	0.0:0.0:1.0:0.0	.	169	Q8TDU6	GPBAR_HUMAN	K	169	ENSP00000430698:E169K;ENSP00000430886:E169K;ENSP00000430202:E169K;ENSP00000428824:E169K	ENSP00000430698:E169K	E	+	1	0	GPBAR1	218836196	1.000000	0.71417	0.090000	0.20809	0.228000	0.25075	6.586000	0.74067	2.575000	0.86900	0.561000	0.74099	GAA		0.662	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191	
VIL1	7429	broad.mit.edu	37	2	219313964	219313964	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219313964G>T	ENST00000248444.5	+	20	2477	c.2389G>T	c.(2389-2391)Gat>Tat	p.D797Y	VIL1_ENST00000392114.2_Missense_Mutation_p.D486Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	797	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.D797Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCATTGAAGATTTCACTCA	0.488																																					p.D797Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2389T	2						.						232.0	232.0	232.0					2																	219313964		2203	4300	6503	219022208	SO:0001583	missense	7429	exon20			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2389G>T	2.37:g.219313964G>T	ENSP00000248444:p.Asp797Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	219022208	NM_007127	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801187	0.70567	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.17370	2.29;2.28	4.64	4.64	0.57946	Villin headpiece (5);	0.068917	0.56097	D	0.000039	T	0.51652	0.1687	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65022	-0.6269	10	0.87932	D	0	-20.9858	17.7033	0.88301	0.0:0.0:1.0:0.0	.	797	P09327	VILI_HUMAN	Y	797;486	ENSP00000248444:D797Y;ENSP00000375962:D486Y	ENSP00000248444:D797Y	D	+	1	0	VIL1	219022208	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.003000	0.63959	2.404000	0.81709	0.462000	0.41574	GAT		0.488	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
ZNF142	7701	broad.mit.edu	37	2	219507517	219507517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219507517G>A	ENST00000449707.1	-	8	4143	c.3722C>T	c.(3721-3723)tCg>tTg	p.S1241L	ZNF142_ENST00000411696.2_Missense_Mutation_p.S1241L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1078L(1)|p.S1241L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGCAGTTTCGAGTTGGTACC	0.552																																					p.S1241L	Colon(170;867 1942 8995 15834 18053)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3722T	2						.						105.0	115.0	111.0					2																	219507517		2123	4233	6356	219215761	SO:0001583	missense	7701	exon8			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3722C>T	2.37:g.219507517G>A	ENSP00000408643:p.Ser1241Leu	Somatic		Capture	Illumina HiSeq	Phase_I	219215761	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946009	0.92593	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.62364	0.03;0.03	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131721	0.52532	D	0.000062	T	0.77678	0.4166	L	0.59967	1.855	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77702	-0.2489	10	0.62326	D	0.03	-20.1511	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1241;1078	P52746;A8MWU9	ZN142_HUMAN;.	L	1241	ENSP00000408643:S1241L;ENSP00000398798:S1241L	ENSP00000398798:S1241L	S	-	2	0	ZNF142	219215761	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	9.340000	0.97038	2.837000	0.97791	0.655000	0.94253	TCG		0.552	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
ZNF142	7701	broad.mit.edu	37	2	219507884	219507884	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219507884G>T	ENST00000449707.1	-	8	3776	c.3355C>A	c.(3355-3357)Ctg>Atg	p.L1119M	ZNF142_ENST00000411696.2_Missense_Mutation_p.L1119M	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1119M(1)|p.L956M(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAGTCCTCAGAGCCCGTTCC	0.602																																					p.L1119M	Colon(170;867 1942 8995 15834 18053)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3355A	2						.						44.0	52.0	49.0					2																	219507884		1974	4137	6111	219216128	SO:0001583	missense	7701	exon8			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3355C>A	2.37:g.219507884G>T	ENSP00000408643:p.Leu1119Met	Somatic		Capture	Illumina HiSeq	Phase_I	219216128	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.039061	0.35989	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.15952	2.38;2.38	4.79	2.98	0.34508	Zinc finger, C2H2-like (1);	0.293921	0.31358	N	0.007797	T	0.18676	0.0448	N	0.12746	0.255	0.30949	N	0.724918	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.03630	-1.1018	10	0.45353	T	0.12	-16.3115	5.8965	0.18941	0.1652:0.0:0.5947:0.2401	.	1119;956	P52746;A8MWU9	ZN142_HUMAN;.	M	1119	ENSP00000408643:L1119M;ENSP00000398798:L1119M	ENSP00000398798:L1119M	L	-	1	2	ZNF142	219216128	0.254000	0.23992	0.992000	0.48379	0.993000	0.82548	0.486000	0.22340	1.377000	0.46286	0.563000	0.77884	CTG		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
CYP27A1	1593	broad.mit.edu	37	2	219677131	219677131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219677131C>A	ENST00000258415.4	+	3	1060	c.633C>A	c.(631-633)taC>taA	p.Y211*		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	211					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.Y211*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TCTTCTACTACTTTGCCTTGG	0.552																																					p.Y211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C633A	2						.						153.0	155.0	155.0					2																	219677131		2203	4300	6503	219385375	SO:0001587	stop_gained	1593	exon3			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.633C>A	2.37:g.219677131C>A	ENSP00000258415:p.Tyr211*	Somatic		Capture	Illumina HiSeq	Phase_I	219385375	NM_000784	A8K303|Q6LDB4|Q86YQ6	Nonsense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576241	0.86645	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	.	.	.	5.91	2.12	0.27331	.	1.591270	0.02942	N	0.140561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.4347	4.8098	0.13339	0.2554:0.5398:0.0:0.2048	.	.	.	.	X	211;117	.	ENSP00000258415:Y211X	Y	+	3	2	CYP27A1	219385375	0.052000	0.20516	0.919000	0.36401	0.969000	0.65631	0.160000	0.16462	0.419000	0.25927	0.643000	0.83706	TAC		0.552	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
PRKAG3	53632	broad.mit.edu	37	2	219689025	219689025	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219689025T>C	ENST00000529249.1	-	12	1588	c.1273A>G	c.(1273-1275)Aca>Gca	p.T425A	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T241A|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T400A			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	425					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.T425A(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AGACATAGTGTCCTCTGCCTC	0.592																																					p.T425A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1273G	2						.						85.0	82.0	83.0					2																	219689025		2203	4300	6503	219397269	SO:0001583	missense	53632	exon12			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1273A>G	2.37:g.219689025T>C	ENSP00000436068:p.Thr425Ala	Somatic		Capture	Illumina HiSeq	Phase_I	219397269	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900630	0.33535	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91407	-2.84;-2.84;-2.84	5.08	0.894	0.19242	Cystathionine beta-synthase, core (1);	0.409334	0.27113	N	0.020880	T	0.81725	0.4883	N	0.24115	0.695	0.80722	D	1	B	0.20368	0.044	B	0.23419	0.046	T	0.69499	-0.5129	10	0.26408	T	0.33	-7.0675	10.1863	0.43000	0.5225:0.0:0.0:0.4775	.	425	Q9UGI9	AAKG3_HUMAN	A	400;241;425	ENSP00000397133:T400A;ENSP00000444536:T241A;ENSP00000436068:T425A	ENSP00000233944:T425A	T	-	1	0	PRKAG3	219397269	1.000000	0.71417	0.873000	0.34254	0.967000	0.64934	1.289000	0.33307	0.236000	0.21180	0.533000	0.62120	ACA		0.592	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
PRKAG3	53632	broad.mit.edu	37	2	219692025	219692025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219692025C>T	ENST00000529249.1	-	9	1262	c.947G>A	c.(946-948)gGc>gAc	p.G316D	PRKAG3_ENST00000545803.1_Missense_Mutation_p.G132D|PRKAG3_ENST00000439262.2_Missense_Mutation_p.G291D|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A301T			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	316	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.G316D(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GAGTACGTTGCCTGACACCGG	0.582																																					p.G316D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947A	2						.						91.0	85.0	87.0					2																	219692025		2203	4300	6503	219400269	SO:0001583	missense	53632	exon9			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.947G>A	2.37:g.219692025C>T	ENSP00000436068:p.Gly316Asp	Somatic		Capture	Illumina HiSeq	Phase_I	219400269	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.473037|3.473037	0.63737|0.63737	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.95171	0.04|-3.63;-3.63;-3.63	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Cystathionine beta-synthase, core (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97244|0.97244	0.9099|0.9099	M|M	0.82132|0.82132	2.575|2.575	0.38745|0.38745	D|D	0.953979|0.953979	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98034|0.98034	1.0378|1.0378	7|10	0.56958|0.54805	D|T	0.05|0.06	-27.8804|-27.8804	17.9976|17.9976	0.89188|0.89188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|316	.|Q9UGI9	.|AAKG3_HUMAN	T|D	301|291;132;316	ENSP00000375947:A301T|ENSP00000397133:G291D;ENSP00000444536:G132D;ENSP00000436068:G316D	ENSP00000375947:A301T|ENSP00000233944:G316D	A|G	-|-	1|2	0|0	PRKAG3|PRKAG3	219400269|219400269	1.000000|1.000000	0.71417|0.71417	0.177000|0.177000	0.23020|0.23020	0.010000|0.010000	0.07245|0.07245	7.561000|7.561000	0.82288|0.82288	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.582	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
CCDC108	255101	broad.mit.edu	37	2	219869159	219869159	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219869159C>A	ENST00000341552.5	-	33	5153	c.5070G>T	c.(5068-5070)aaG>aaT	p.K1690N	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.K1690N|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.K1690N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1690						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.K1690N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGAAGTTCTTGTCTTCCA	0.567																																					p.K1690N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5070T	2						.						88.0	89.0	88.0					2																	219869159		2203	4300	6503	219577403	SO:0001583	missense	255101	exon33			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5070G>T	2.37:g.219869159C>A	ENSP00000340776:p.Lys1690Asn	Somatic		Capture	Illumina HiSeq	Phase_I	219577403	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610688	0.46527	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05447	3.44;3.44;3.44	4.78	3.89	0.44902	.	0.148190	0.31450	N	0.007623	T	0.08447	0.0210	M	0.64997	1.995	0.80722	D	1	P	0.38767	0.646	B	0.38327	0.271	T	0.05354	-1.0890	10	0.46703	T	0.11	-20.3081	8.854	0.35217	0.0:0.7635:0.1498:0.0866	.	1690	Q6ZU64	CC108_HUMAN	N	1690	ENSP00000340776:K1690N;ENSP00000413377:K1690N;ENSP00000409117:K1690N	ENSP00000340776:K1690N	K	-	3	2	CCDC108	219577403	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.343000	0.33930	2.225000	0.72522	0.561000	0.74099	AAG		0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
CCDC108	255101	broad.mit.edu	37	2	219895497	219895497	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219895497C>T	ENST00000341552.5	-	9	1158	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CCDC108_ENST00000409865.3_Missense_Mutation_p.E348K|CCDC108_ENST00000410037.1_Missense_Mutation_p.E294K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E359K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E359K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	359						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E359K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAAGCCCTCGGCATCCTGG	0.627																																					p.E359K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1075A	2						.						74.0	73.0	73.0					2																	219895497		2203	4300	6503	219603741	SO:0001583	missense	255101	exon9			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1075G>A	2.37:g.219895497C>T	ENSP00000340776:p.Glu359Lys	Somatic		Capture	Illumina HiSeq	Phase_I	219603741	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708606	0.15239	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07444	3.45;3.45;3.45;3.19;3.21	5.09	3.26	0.37387	.	0.667572	0.13036	N	0.418932	T	0.07818	0.0196	M	0.68317	2.08	0.20403	N	0.999906	B;B	0.30584	0.286;0.239	B;B	0.18263	0.021;0.009	T	0.38929	-0.9638	10	0.06757	T	0.87	-7.0124	7.6281	0.28224	0.0:0.7138:0.1374:0.1488	.	348;359	E9PG25;Q6ZU64	.;CC108_HUMAN	K	359;359;359;348;294;293	ENSP00000340776:E359K;ENSP00000413377:E359K;ENSP00000409117:E359K;ENSP00000386945:E348K;ENSP00000386258:E294K	ENSP00000340776:E359K	E	-	1	0	CCDC108	219603741	0.005000	0.15991	0.002000	0.10522	0.771000	0.43674	1.024000	0.30077	0.706000	0.31912	0.563000	0.77884	GAG		0.627	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
CCDC108	255101	broad.mit.edu	37	2	219903720	219903720	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:219903720C>A	ENST00000341552.5	-	3	134	c.51G>T	c.(49-51)gaG>gaT	p.E17D	CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000453220.1_Missense_Mutation_p.E17D|CCDC108_ENST00000441968.1_Missense_Mutation_p.E17D	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	17						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E17D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGATGGATTCTCCACCTTCT	0.423																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	2						.						119.0	114.0	116.0					2																	219903720		2203	4300	6503	219611964	SO:0001583	missense	255101	exon3			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.51G>T	2.37:g.219903720C>A	ENSP00000340776:p.Glu17Asp	Somatic		Capture	Illumina HiSeq	Phase_I	219611964	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731594	0.30684	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05580	3.42;3.42;3.42	3.21	3.21	0.36854	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.35014	D	0.757223	B	0.24721	0.11	B	0.24848	0.056	T	0.31613	-0.9937	9	0.51188	T	0.08	.	10.1567	0.42827	0.0:1.0:0.0:0.0	.	17	Q6ZU64	CC108_HUMAN	D	17	ENSP00000340776:E17D;ENSP00000413377:E17D;ENSP00000409117:E17D	ENSP00000340776:E17D	E	-	3	2	CCDC108	219611964	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.225000	0.09151	2.081000	0.62600	0.514000	0.50259	GAG		0.423	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
CNPPD1	27013	broad.mit.edu	37	2	220037760	220037760	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220037760A>G	ENST00000409789.1	-	9	1208	c.781T>C	c.(781-783)Tgc>Cgc	p.C261R	CNPPD1_ENST00000360507.5_Missense_Mutation_p.C261R|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000396775.3_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	261					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)		p.C261R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GTAGGGATGCAGGACAGCCCC	0.592																																					p.C261R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T781C	2						.						87.0	70.0	76.0					2																	220037760		2203	4300	6503	219746004	SO:0001583	missense	27013	exon8			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.781T>C	2.37:g.220037760A>G	ENSP00000386277:p.Cys261Arg	Somatic		Capture	Illumina HiSeq	Phase_I	219746004	NM_015680	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	A	8.316	0.823148	0.16678	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038	T;T;T	0.29655	2.55;2.55;1.56	5.18	2.75	0.32379	.	0.587225	0.19111	N	0.122459	T	0.17109	0.0411	N	0.14661	0.345	0.09310	N	0.999995	B	0.29716	0.255	B	0.27796	0.083	T	0.15925	-1.0420	10	0.27785	T	0.31	-18.081	11.6072	0.51039	0.7047:0.2953:0.0:0.0	.	261	Q9BV87	CNPD1_HUMAN	R	261	ENSP00000353698:C261R;ENSP00000386277:C261R;ENSP00000410109:C261R	ENSP00000353698:C261R	C	-	1	0	CNPPD1	219746004	0.984000	0.35163	0.985000	0.45067	0.576000	0.36127	2.384000	0.44362	0.973000	0.38340	0.533000	0.62120	TGC		0.592	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680	
ABCB6	10058	broad.mit.edu	37	2	220078605	220078605	+	Silent	SNP	G	G	A	rs370349438		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220078605G>A	ENST00000265316.3	-	9	1837	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	ABCB6_ENST00000439002.2_Silent_p.L461L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	507	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.L507L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGAGCCCGAGCCCAATCA	0.537																																					p.L507L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1521T	2						.						91.0	111.0	104.0					2																	220078605		2203	4300	6503	219786849	SO:0001819	synonymous_variant	10058	exon9			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1521C>T	2.37:g.220078605G>A		Somatic		Capture	Illumina HiSeq	Phase_I	219786849	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	8.338	0.827988	0.16749	.	.	ENSG00000115657	ENST00000295750	.	.	.	5.02	-6.59	0.01830	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44636	-0.9315	4	.	.	.	-5.6264	4.5912	0.12307	0.5815:0.0862:0.2205:0.1118	.	.	.	.	L	355	.	.	S	-	2	0	ABCB6	219786849	0.000000	0.05858	0.944000	0.38274	0.941000	0.58515	-1.708000	0.01891	-0.842000	0.04195	-1.287000	0.01368	TCG		0.537	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
ATG9A	79065	broad.mit.edu	37	2	220088944	220088944	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220088944G>A	ENST00000409618.1	-	8	1588	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	ATG9A_ENST00000409422.1_Silent_p.F322F|ATG9A_ENST00000396761.2_Silent_p.F383F|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Silent_p.F383F|ATG9A_ENST00000488833.1_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	383					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.F383F(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCCAGCGAAGAAGGCTC	0.542																																					p.F383F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1149T	2						.						148.0	157.0	154.0					2																	220088944		2089	4217	6306	219797188	SO:0001819	synonymous_variant	79065	exon7			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1149C>T	2.37:g.220088944G>A		Somatic		Capture	Illumina HiSeq	Phase_I	219797188	NM_024085	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	CCDS42820.1																																																																																				0.542	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
GLB1L	79411	broad.mit.edu	37	2	220104381	220104381	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220104381G>T	ENST00000295759.7	-	9	1117	c.804C>A	c.(802-804)ggC>ggA	p.G268G	GLB1L_ENST00000356283.3_Silent_p.G178G|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Silent_p.G268G|GLB1L_ENST00000409640.1_Silent_p.G178G			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	268					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.G268G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCCAGCCAGCCTGTGTAGT	0.498																																					p.G268G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804A	2						.						140.0	137.0	138.0					2																	220104381		2203	4300	6503	219812625	SO:0001819	synonymous_variant	79411	exon9				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.804C>A	2.37:g.220104381G>T		Somatic		Capture	Illumina HiSeq	Phase_I	219812625	NM_024506	Q96DR0	Silent	SNP	ENST00000295759.7	37	CCDS2437.1																																																																																				0.498	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
PTPRN	5798	broad.mit.edu	37	2	220161475	220161475	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220161475G>T	ENST00000295718.2	-	16	2546	c.2306C>A	c.(2305-2307)cCc>cAc	p.P769H	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P679H|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.P740H|PTPRN_ENST00000497977.1_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	769	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P769H(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACTCACAATGGGGCTGGCGTT	0.607																																					p.P679H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2036A	2						.						111.0	95.0	101.0					2																	220161475		2203	4300	6503	219869719	SO:0001583	missense	5798	exon16				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2306C>A	2.37:g.220161475G>T	ENSP00000295718:p.Pro769His	Somatic		Capture	Illumina HiSeq	Phase_I	219869719	NM_001199764	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459961	0.63401	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.13196	2.61;2.61;2.61	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.465191	0.20683	N	0.087616	T	0.15003	0.0362	N	0.01800	-0.715	0.41894	D	0.990387	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.971	T	0.53464	-0.8435	10	0.42905	T	0.14	.	16.4513	0.83991	0.0:0.0:1.0:0.0	.	740;769	Q6NSL1;Q16849	.;PTPRN_HUMAN	H	740;769;740;679	ENSP00000386638:P740H;ENSP00000295718:P769H;ENSP00000444244:P679H	ENSP00000295718:P769H	P	-	2	0	PTPRN	219869719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.780000	0.68956	2.187000	0.69744	0.563000	0.77884	CCC		0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
GMPPA	29926	broad.mit.edu	37	2	220368898	220368898	+	Missense_Mutation	SNP	C	C	T	rs147832114		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220368898C>T	ENST00000358215.3	+	7	952	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	GMPPA_ENST00000313597.5_Missense_Mutation_p.R195W|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R195W|GMPPA_ENST00000341142.3_Missense_Mutation_p.R195W|GMPPA_ENST00000373917.3_Missense_Mutation_p.R195W	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	195					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.R195W(1)|p.R125W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GAAGCCTCTTCGGGATGTCTT	0.527																																					p.R195W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C583T	2						.	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	150.0	157.0		583,583	2.1	1.0	2	dbSNP_134	157	0,8600		0,0,4300	no	missense,missense	GMPPA	NM_013335.3,NM_205847.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	195/421,195/421	220368898	1,13005	2203	4300	6503	220077142	SO:0001583	missense	29926	exon7			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.583C>T	2.37:g.220368898C>T	ENSP00000350949:p.Arg195Trp	Somatic		Capture	Illumina HiSeq	Phase_I	220077142	NM_013335	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405422	0.83230	2.27E-4	0.0	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;D	0.94376	-3.41;-3.41;-3.41;-3.41;1.86;-3.41	5.13	2.08	0.27032	.	0.290301	0.31784	N	0.007066	D	0.94185	0.8134	L	0.59436	1.845	0.36549	D	0.871745	D;D	0.65815	0.995;0.989	P;P	0.55303	0.663;0.773	D	0.95484	0.8563	10	0.72032	D	0.01	-12.1258	15.9152	0.79508	0.0:0.3426:0.6574:0.0	.	195;195	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	W	195;195;195;195;160;195;125	ENSP00000315925:R195W;ENSP00000363027:R195W;ENSP00000350949:R195W;ENSP00000363016:R195W;ENSP00000411060:R160W;ENSP00000340760:R195W	ENSP00000315925:R195W	R	+	1	2	GMPPA	220077142	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.249000	0.51437	0.524000	0.28502	0.591000	0.81541	CGG		0.527	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
TMEM198	130612	broad.mit.edu	37	2	220413933	220413933	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220413933C>T	ENST00000344458.2	+	5	1387	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R268C|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	268	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R268C(4)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCAGGAAGATCGCAAGGAGAA	0.642																																					p.R268C												.	.	4	Substitution - Missense(4)	large_intestine(2)|NS(2)	c.C802T	2						.						87.0	95.0	92.0					2																	220413933		2203	4300	6503	220122177	SO:0001583	missense	130612	exon4			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.802C>T	2.37:g.220413933C>T	ENSP00000343507:p.Arg268Cys	Somatic		Capture	Illumina HiSeq	Phase_I	220122177	NM_001005209		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307496	0.95629	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	P	0.50082	0.63	T	0.62656	-0.6808	9	0.66056	D	0.02	-21.1955	18.3802	0.90448	0.0:1.0:0.0:0.0	.	268	Q66K66	TM198_HUMAN	C	268	.	ENSP00000343507:R268C	R	+	1	0	TMEM198	220122177	0.999000	0.42202	0.986000	0.45419	0.945000	0.59286	3.689000	0.54706	2.751000	0.94390	0.555000	0.69702	CGC		0.642	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	
TMEM198	130612	broad.mit.edu	37	2	220414051	220414051	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220414051G>A	ENST00000344458.2	+	5	1505	c.920G>A	c.(919-921)cGc>cAc	p.R307H	TMEM198_ENST00000373883.3_Missense_Mutation_p.R307H|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	307					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R307H(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCATCAAACGCTTCAATGGA	0.607																																					p.R307H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G920A	2						.						39.0	40.0	40.0					2																	220414051		2203	4300	6503	220122295	SO:0001583	missense	130612	exon4			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.920G>A	2.37:g.220414051G>A	ENSP00000343507:p.Arg307His	Somatic		Capture	Illumina HiSeq	Phase_I	220122295	NM_001005209		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755378	0.96898	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75334	-0.3354	9	0.54805	T	0.06	-35.9813	18.6803	0.91544	0.0:0.0:1.0:0.0	.	307	Q66K66	TM198_HUMAN	H	307	.	ENSP00000343507:R307H	R	+	2	0	TMEM198	220122295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.586000	0.98226	2.820000	0.97059	0.650000	0.86243	CGC		0.607	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	
INHA	3623	broad.mit.edu	37	2	220440019	220440019	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:220440019G>A	ENST00000243786.2	+	2	1052	c.872G>A	c.(871-873)tGt>tAt	p.C291Y		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	291					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.C291S(1)|p.C291Y(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCCACTACTGTCATGGTGGT	0.612																																					p.C291Y												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G872A	2						.						168.0	164.0	166.0					2																	220440019		2203	4300	6503	220148263	SO:0001583	missense	3623	exon2				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.872G>A	2.37:g.220440019G>A	ENSP00000243786:p.Cys291Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	220148263	NM_002191	A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642156	0.67244	.	.	ENSG00000123999	ENST00000243786	D	0.99830	-7.01	5.48	4.6	0.57074	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.093959	0.85682	D	0.000000	D	0.99873	0.9940	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96304	0.9223	9	.	.	.	-12.04	16.3326	0.83048	0.0:0.1322:0.8678:0.0	.	291	P05111	INHA_HUMAN	Y	291	ENSP00000243786:C291Y	.	C	+	2	0	INHA	220148263	1.000000	0.71417	0.985000	0.45067	0.900000	0.52787	8.772000	0.91757	1.291000	0.44653	0.561000	0.74099	TGT		0.612	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1		
PAX3	5077	broad.mit.edu	37	2	223096870	223096870	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:223096870C>A	ENST00000350526.4	-	5	855	c.719G>T	c.(718-720)aGa>aTa	p.R240I	PAX3_ENST00000336840.6_Missense_Mutation_p.R240I|PAX3_ENST00000344493.4_Missense_Mutation_p.R240I|PAX3_ENST00000392069.2_Missense_Mutation_p.R240I|PAX3_ENST00000392070.2_Missense_Mutation_p.R240I|PAX3_ENST00000409551.3_Missense_Mutation_p.R239I	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	240					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R240I(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAATGAGTTCTCTCAAAAGC	0.522			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.R240I			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719T	2						.						150.0	148.0	149.0					2																	223096870		2203	4300	6503	222805114	SO:0001583	missense	5077	exon5				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.719G>T	2.37:g.223096870C>A	ENSP00000343052:p.Arg240Ile	Somatic		Capture	Illumina HiSeq	Phase_I	222805114	NM_181457	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308575	0.95629	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	L	0.45744	1.44	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.997;1.0	P;D;D;D;D	0.91635	0.728;0.999;0.998;0.967;0.997	D	0.98281	1.0508	10	0.87932	D	0	.	19.1177	0.93348	0.0:1.0:0.0:0.0	.	240;239;240;240;240	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	I	240;240;240;240;240;239	ENSP00000375921:R240I;ENSP00000342092:R240I;ENSP00000343052:R240I;ENSP00000375922:R240I;ENSP00000338767:R240I;ENSP00000386750:R239I	ENSP00000338767:R240I	R	-	2	0	PAX3	222805114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.510000	0.84645	0.557000	0.71058	AGA		0.522	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
ACSL3	2181	broad.mit.edu	37	2	223773854	223773854	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:223773854A>C	ENST00000357430.3	+	4	895	c.364A>C	c.(364-366)Aaa>Caa	p.K122Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.K122Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	122					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K122Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ACCAAATGGAAAAATTTTTAA	0.318			T	ETV1	prostate																																p.K122Q			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A364C	2						.						33.0	35.0	34.0					2																	223773854		2172	4288	6460	223482098	SO:0001583	missense	2181	exon4			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.364A>C	2.37:g.223773854A>C	ENSP00000350012:p.Lys122Gln	Somatic		Capture	Illumina HiSeq	Phase_I	223482098	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128610	0.77549	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.37058	1.22;1.22	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.70070	-0.4973	10	0.72032	D	0.01	-18.6093	14.0527	0.64747	1.0:0.0:0.0:0.0	.	122	O95573	ACSL3_HUMAN	Q	122	ENSP00000350012:K122Q;ENSP00000375918:K122Q	ENSP00000350012:K122Q	K	+	1	0	ACSL3	223482098	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.761000	0.91691	1.916000	0.55485	0.383000	0.25322	AAA		0.318	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
ACSL3	2181	broad.mit.edu	37	2	223787802	223787802	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:223787802A>C	ENST00000357430.3	+	10	1618	c.1087A>C	c.(1087-1089)Aaa>Caa	p.K363Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.K363Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	363					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K363Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GTAGTCTTCAAAAATTAAAAA	0.289			T	ETV1	prostate																																p.K363Q			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1087C	2						.						41.0	44.0	43.0					2																	223787802		2199	4298	6497	223496046	SO:0001583	missense	2181	exon10			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1087A>C	2.37:g.223787802A>C	ENSP00000350012:p.Lys363Gln	Somatic		Capture	Illumina HiSeq	Phase_I	223496046	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120197	0.77323	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.40225	2.89;2.89;1.04	5.36	5.36	0.76844	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.85099	2.735	0.80722	D	1	P	0.50156	0.932	P	0.57283	0.817	T	0.71321	-0.4628	10	0.72032	D	0.01	-22.1551	15.3641	0.74507	1.0:0.0:0.0:0.0	.	363	O95573	ACSL3_HUMAN	Q	363;363;133	ENSP00000350012:K363Q;ENSP00000375918:K363Q;ENSP00000404182:K133Q	ENSP00000350012:K363Q	K	+	1	0	ACSL3	223496046	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	8.820000	0.92003	2.042000	0.60477	0.533000	0.62120	AAA		0.289	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
DOCK10	55619	broad.mit.edu	37	2	225670950	225670950	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:225670950G>T	ENST00000258390.7	-	34	3774	c.3707C>A	c.(3706-3708)tCt>tAt	p.S1236Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1230Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1236					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1234Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCATCTCTAGACCCCTGTAT	0.358																																					p.S1236Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3707A	2						.						95.0	92.0	93.0					2																	225670950		1853	4097	5950	225379194	SO:0001583	missense	55619	exon34			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3707C>A	2.37:g.225670950G>T	ENSP00000258390:p.Ser1236Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	225379194	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.118709|4.118709	0.77323|0.77323	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.69040	.|3.37;-0.37	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81754|0.81754	0.4889|0.4889	M|M	0.78637|0.78637	2.42|2.42	0.52501|0.52501	D|D	0.99995|0.99995	.|D;D;D	.|0.67145	.|0.996;0.963;0.991	.|P;P;P	.|0.60609	.|0.877;0.603;0.851	T|T	0.82585|0.82585	-0.0384|-0.0384	5|10	.|0.72032	.|D	.|0.01	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1236;99;1230	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	I|Y	127|1230;1236	.|ENSP00000386694:S1230Y;ENSP00000258390:S1236Y	.|ENSP00000258390:S1236Y	L|S	-|-	1|2	2|0	DOCK10|DOCK10	225379194|225379194	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	8.442000|8.442000	0.90317|0.90317	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.358	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DOCK10	55619	broad.mit.edu	37	2	225706558	225706558	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:225706558G>T	ENST00000258390.7	-	23	2691	c.2624C>A	c.(2623-2625)tCt>tAt	p.S875Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S869Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	875					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S873Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTGACTGAGACATATCTTT	0.368																																					p.S875Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2624A	2						.						268.0	251.0	256.0					2																	225706558		1891	4117	6008	225414802	SO:0001583	missense	55619	exon23			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2624C>A	2.37:g.225706558G>T	ENSP00000258390:p.Ser875Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	225414802	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783497	0.90282	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.21543	2.0;2.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.75777	2.31	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.949	T	0.46456	-0.9190	10	0.66056	D	0.02	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	875;869	Q96BY6;B3FL70	DOC10_HUMAN;.	Y	869;875	ENSP00000386694:S869Y;ENSP00000258390:S875Y	ENSP00000258390:S875Y	S	-	2	0	DOCK10	225414802	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.367000	0.79558	2.691000	0.91804	0.655000	0.94253	TCT		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
NYAP2	57624	broad.mit.edu	37	2	226446981	226446981	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:226446981C>T	ENST00000272907.6	+	4	1261	c.848C>T	c.(847-849)gCc>gTc	p.A283V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	283					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.A283V(1)									GGCCAAGACGCCAAATGTGAC	0.557																																					p.A283V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848T	2						.						103.0	109.0	107.0					2																	226446981		2109	4211	6320	226155225	SO:0001583	missense	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.848C>T	2.37:g.226446981C>T	ENSP00000272907:p.Ala283Val	Somatic		Capture	Illumina HiSeq	Phase_I	226155225	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039867	0.19669	.	.	ENSG00000144460	ENST00000272907	T	0.44881	0.91	5.38	5.38	0.77491	.	0.628534	0.15497	N	0.259234	T	0.32763	0.0840	N	0.19112	0.55	0.80722	D	1	B	0.25169	0.119	B	0.23275	0.045	T	0.08371	-1.0725	10	0.27082	T	0.32	-0.2572	19.1543	0.93504	0.0:1.0:0.0:0.0	.	283	Q9P242	K1486_HUMAN	V	283	ENSP00000272907:A283V	ENSP00000272907:A283V	A	+	2	0	KIAA1486	226155225	0.984000	0.35163	0.008000	0.14137	0.044000	0.14063	5.532000	0.67154	2.521000	0.84997	0.555000	0.69702	GCC		0.557	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
NYAP2	57624	broad.mit.edu	37	2	226447108	226447108	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:226447108C>A	ENST00000272907.6	+	4	1388	c.975C>A	c.(973-975)ccC>ccA	p.P325P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	325	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P325P(1)									TCCCTCCGCCCTTCCCCAACC	0.647																																					p.P325P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C975A	2						.						43.0	46.0	45.0					2																	226447108		1944	4123	6067	226155352	SO:0001819	synonymous_variant	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.975C>A	2.37:g.226447108C>A		Somatic		Capture	Illumina HiSeq	Phase_I	226155352	NM_020864	A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
IRS1	3667	broad.mit.edu	37	2	227661272	227661272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:227661272C>T	ENST00000305123.5	-	1	3203	c.2183G>A	c.(2182-2184)tGc>tAc	p.C728Y	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	728					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.C728Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTCACCTGTGCAAGGTAAGAG	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C728Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2183A	2						.						130.0	136.0	134.0					2																	227661272		2203	4300	6503	227369516	SO:0001583	missense	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2183G>A	2.37:g.227661272C>T	ENSP00000304895:p.Cys728Tyr	Somatic	2321	Capture	Illumina HiSeq	Phase_I	227369516	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893841	0.52121	.	.	ENSG00000169047	ENST00000305123	T	0.57595	0.39	4.85	4.85	0.62838	.	0.179280	0.39544	N	0.001340	T	0.52273	0.1724	L	0.34521	1.04	0.40754	D	0.982943	D	0.56968	0.978	P	0.49012	0.598	T	0.57260	-0.7842	10	0.52906	T	0.07	-6.4053	18.1615	0.89709	0.0:1.0:0.0:0.0	.	728	P35568	IRS1_HUMAN	Y	728	ENSP00000304895:C728Y	ENSP00000304895:C728Y	C	-	2	0	IRS1	227369516	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	5.051000	0.64257	2.526000	0.85167	0.561000	0.74099	TGC		0.592	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
IRS1	3667	broad.mit.edu	37	2	227662786	227662786	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:227662786G>A	ENST00000305123.5	-	1	1689	c.669C>T	c.(667-669)atC>atT	p.I223I	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	223	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.I223I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGCCCACCTCGATGAAGAAGA	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I223I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C669T	2						.						76.0	84.0	82.0					2																	227662786		2203	4300	6503	227371030	SO:0001819	synonymous_variant	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.669C>T	2.37:g.227662786G>A		Somatic	2321	Capture	Illumina HiSeq	Phase_I	227371030	NM_005544		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
COL4A4	1286	broad.mit.edu	37	2	227958979	227958979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:227958979C>A	ENST00000396625.3	-	20	1438	c.1231G>T	c.(1231-1233)Gga>Tga	p.G411*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.G411*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	411	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G411*(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGAAATCCTTGTGGCCCA	0.483																																					p.G411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1231T	2						.						36.0	38.0	37.0					2																	227958979		1841	4085	5926	227667223	SO:0001587	stop_gained	1286	exon20				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1231G>T	2.37:g.227958979C>A	ENSP00000379866:p.Gly411*	Somatic		Capture	Illumina HiSeq	Phase_I	227667223	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817354	0.98507	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.7476	0.88425	0.0:1.0:0.0:0.0	.	.	.	.	X	411	.	ENSP00000328553:G411X	G	-	1	0	COL4A4	227667223	1.000000	0.71417	0.776000	0.31678	0.800000	0.45204	3.123000	0.50453	2.471000	0.83476	0.563000	0.77884	GGA		0.483	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
MFF	56947	broad.mit.edu	37	2	228205062	228205062	+	Missense_Mutation	SNP	C	C	T	rs201498602		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228205062C>T	ENST00000353339.3	+	6	925	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	MFF_ENST00000349901.7_Missense_Mutation_p.R136C|MFF_ENST00000524634.1_Missense_Mutation_p.R7C|MFF_ENST00000354503.6_Missense_Mutation_p.R136C|MFF_ENST00000304593.9_Missense_Mutation_p.R136C|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.R136C|MFF_ENST00000409616.1_Missense_Mutation_p.R136C|MFF_ENST00000337110.7_Missense_Mutation_p.R136C|MFF_ENST00000392059.1_Missense_Mutation_p.R162C	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	162					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R162C(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGCTGTTCGCCAAAATGG	0.398																																					p.R162C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C484T	2						.	C	CYS/ARG	2,4404		0,2,2201	87.0	81.0	83.0		484	5.9	1.0	2		83	0,8600		0,0,4300	yes	missense	MFF	NM_020194.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	162/343	228205062	2,13004	2203	4300	6503	227913306	SO:0001583	missense	56947	exon6			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.484C>T	2.37:g.228205062C>T	ENSP00000302037:p.Arg162Cys	Somatic		Capture	Illumina HiSeq	Phase_I	227913306	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161242	0.94727	4.54E-4	0.0	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000530359;ENST00000531278;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.35973	1.28;1.28	5.95	5.95	0.96441	.	0.049048	0.85682	D	0.000000	T	0.61211	0.2329	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;P;D;D;D	0.87578	0.978;0.97;0.731;0.966;0.939;0.998	T	0.59637	-0.7417	10	0.66056	D	0.02	-7.6269	20.3932	0.98965	0.0:1.0:0.0:0.0	.	136;136;136;136;136;162	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	C	136;162;136;7;7;136;136;136;136;7;7;136;162;19	ENSP00000302037:R162C;ENSP00000375912:R162C	ENSP00000304898:R136C	R	+	1	0	MFF	227913306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.430000	0.73391	2.824000	0.97209	0.655000	0.94253	CGC		0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
MFF	56947	broad.mit.edu	37	2	228212096	228212096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228212096C>T	ENST00000353339.3	+	8	1189	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	MFF_ENST00000349901.7_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.R199C|MFF_ENST00000476924.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R250C	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	250					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R250C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GGATGAAAATCGCAGGTGATT	0.443																																					p.R250C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748T	2						.						171.0	154.0	160.0					2																	228212096		2203	4300	6503	227920340	SO:0001583	missense	56947	exon8			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.748C>T	2.37:g.228212096C>T	ENSP00000302037:p.Arg250Cys	Somatic		Capture	Illumina HiSeq	Phase_I	227920340	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596759	0.86953	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000392059;ENST00000456345	T;T	0.37411	1.2;1.2	5.72	4.85	0.62838	.	0.129182	0.56097	D	0.000032	T	0.52996	0.1769	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68621	0.764;0.959	T	0.49908	-0.8889	10	0.35671	T	0.21	-27.0654	14.6958	0.69121	0.0:0.9302:0.0:0.0698	.	199;250	Q9GZY8-2;Q9GZY8	.;MFF_HUMAN	C	199;250;250;82	ENSP00000302037:R250C;ENSP00000375912:R250C	ENSP00000304898:R199C	R	+	1	0	MFF	227920340	0.998000	0.40836	0.953000	0.39169	0.947000	0.59692	5.487000	0.66863	1.424000	0.47217	0.591000	0.81541	CGC		0.443	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
TM4SF20	79853	broad.mit.edu	37	2	228243890	228243890	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228243890A>G	ENST00000304568.3	-	1	132	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V32A(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACTAAGCTGACAATTAGAGG	0.463																																					p.V32A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T95C	2						.						128.0	126.0	127.0					2																	228243890		2203	4300	6503	227952134	SO:0001583	missense	79853	exon1			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.95T>C	2.37:g.228243890A>G	ENSP00000303028:p.Val32Ala	Somatic		Capture	Illumina HiSeq	Phase_I	227952134	NM_024795	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.492715	0.26774	.	.	ENSG00000168955	ENST00000304568	T	0.33216	1.42	5.77	2.11	0.27256	.	1.339500	0.04980	N	0.465470	T	0.26376	0.0644	L	0.50919	1.6	0.09310	N	1	B	0.21071	0.051	B	0.23275	0.045	T	0.26538	-1.0100	10	0.20046	T	0.44	-4.1242	3.2514	0.06815	0.6175:0.0:0.2066:0.1759	.	32	Q53R12	T4S20_HUMAN	A	32	ENSP00000303028:V32A	ENSP00000303028:V32A	V	-	2	0	TM4SF20	227952134	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	0.497000	0.22514	0.951000	0.37770	0.482000	0.46254	GTC		0.463	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795	
AGFG1	3267	broad.mit.edu	37	2	228389494	228389494	+	Missense_Mutation	SNP	G	G	A	rs142029380		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228389494G>A	ENST00000310078.8	+	5	817	c.557G>A	c.(556-558)cGt>cAt	p.R186H	AGFG1_ENST00000409171.1_Missense_Mutation_p.R186H|AGFG1_ENST00000409315.1_Missense_Mutation_p.R186H|AGFG1_ENST00000373671.3_Missense_Mutation_p.R186H|AGFG1_ENST00000409979.2_Missense_Mutation_p.R186H|AGFG1_ENST00000486932.1_3'UTR	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	186					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R186H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GTTGTAGGTCGTTCTCAAGGG	0.423																																					p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	2						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	152.0	138.0	143.0		557,557,557,557	6.0	1.0	2	dbSNP_134	143	0,8600		0,0,4300	yes	missense,missense,missense,missense	AGFG1	NM_001135187.1,NM_001135188.1,NM_001135189.1,NM_004504.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	186/585,186/561,186/523,186/563	228389494	1,13005	2203	4300	6503	228097738	SO:0001583	missense	3267	exon5				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.557G>A	2.37:g.228389494G>A	ENSP00000312059:p.Arg186His	Somatic		Capture	Illumina HiSeq	Phase_I	228097738	NM_004504	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277985	0.80692	2.27E-4	0.0	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.25414	1.85;1.81;1.8;1.88;1.81	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.59436	1.845	0.80722	D	1	D;D;B;D	0.89917	1.0;0.993;0.226;0.989	D;P;B;P	0.91635	0.999;0.852;0.047;0.715	T	0.12344	-1.0551	10	0.31617	T	0.26	0.0918	20.4561	0.99145	0.0:0.0:1.0:0.0	.	186;186;186;186	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	H	186;171;186;186;186;186;108	ENSP00000387282:R186H;ENSP00000312059:R186H;ENSP00000387154:R186H;ENSP00000362775:R186H;ENSP00000387218:R186H	ENSP00000312059:R186H	R	+	2	0	AGFG1	228097738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	CGT		0.423	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
DAW1	164781	broad.mit.edu	37	2	228783505	228783505	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228783505G>T	ENST00000309931.2	+	11	1066	c.983G>T	c.(982-984)aGa>aTa	p.R328I	DAW1_ENST00000545118.1_Missense_Mutation_p.R313I|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	328						cilium (GO:0005929)		p.R328I(1)									GGAACAGCAAGAATTTTCAGT	0.358																																					p.R328I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983T	2						.						69.0	68.0	69.0					2																	228783505		2203	4300	6503	228491749	SO:0001583	missense	164781	exon11				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.983G>T	2.37:g.228783505G>T	ENSP00000311899:p.Arg328Ile	Somatic		Capture	Illumina HiSeq	Phase_I	228491749	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778003	0.90195	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.67865	1.02;-0.29	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100891	0.64402	D	0.000003	T	0.75708	0.3886	L	0.49778	1.585	0.80722	D	1	P	0.49783	0.928	P	0.57244	0.816	T	0.77416	-0.2596	10	0.72032	D	0.01	.	18.3811	0.90451	0.0:0.0:1.0:0.0	.	328	Q8N136	WDR69_HUMAN	I	328;313	ENSP00000311899:R328I;ENSP00000437887:R313I	ENSP00000311899:R328I	R	+	2	0	WDR69	228491749	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.993000	0.88291	2.648000	0.89879	0.650000	0.86243	AGA		0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
SPHKAP	80309	broad.mit.edu	37	2	228883466	228883466	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:228883466G>A	ENST00000392056.3	-	7	2150	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SPHKAP_ENST00000344657.5_Silent_p.L702L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	702						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L702L(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGGTGTCCAGAATTTCAGAT	0.398																																					p.L702L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2104T	2						.						229.0	207.0	214.0					2																	228883466		2203	4300	6503	228591710	SO:0001819	synonymous_variant	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2104C>T	2.37:g.228883466G>A		Somatic		Capture	Illumina HiSeq	Phase_I	228591710	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.398	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
PID1	55022	broad.mit.edu	37	2	229890417	229890417	+	Silent	SNP	G	G	A	rs147151232		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:229890417G>A	ENST00000354069.6	-	3	714	c.684C>T	c.(682-684)agC>agT	p.S228S	PID1_ENST00000409462.1_Silent_p.S146S|PID1_ENST00000392054.3_Silent_p.S226S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.S195S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	228	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S226S(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCGCCCGTCGCTCTTCATAC	0.562																																					p.S195S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C585T	2						.	G	,	0,4406		0,0,2203	102.0	97.0	98.0		585,678	-4.8	0.6	2	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	PID1	NM_001100818.1,NM_017933.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	195/218,226/249	229890417	3,13003	2203	4300	6503	229598661	SO:0001819	synonymous_variant	55022	exon3			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.684C>T	2.37:g.229890417G>A		Somatic		Capture	Illumina HiSeq	Phase_I	229598661	NM_001100818	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37																																																																																					0.562	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
PID1	55022	broad.mit.edu	37	2	229890561	229890561	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:229890561G>A	ENST00000354069.6	-	3	570	c.540C>T	c.(538-540)ttC>ttT	p.F180F	PID1_ENST00000409462.1_Silent_p.F98F|PID1_ENST00000392054.3_Silent_p.F178F|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.F147F			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	180	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F178F(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGACCCAGGCGAAGATGTTGG	0.602																																					p.F147F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.C441T	2						.						150.0	133.0	139.0					2																	229890561		2203	4300	6503	229598805	SO:0001819	synonymous_variant	55022	exon3			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.540C>T	2.37:g.229890561G>A		Somatic		Capture	Illumina HiSeq	Phase_I	229598805	NM_001100818	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37																																																																																					0.602	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
TRIP12	9320	broad.mit.edu	37	2	230664073	230664073	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:230664073T>G	ENST00000283943.5	-	21	3186	c.3008A>C	c.(3007-3009)aAa>aCa	p.K1003T	TRIP12_ENST00000389044.4_Missense_Mutation_p.K1051T|TRIP12_ENST00000389045.3_Missense_Mutation_p.K733T|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1003					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.K1003T(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGCAGTCGTTTTCTCTTTAG	0.398																																					p.K1003T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3008C	2						.						178.0	159.0	165.0					2																	230664073		2203	4300	6503	230372317	SO:0001583	missense	9320	exon21			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3008A>C	2.37:g.230664073T>G	ENSP00000283943:p.Lys1003Thr	Somatic		Capture	Illumina HiSeq	Phase_I	230372317	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701142	0.88924	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.54675	0.62;0.91;0.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	L	0.42245	1.32	0.80722	D	1	D;D;D	0.57899	0.981;0.981;0.981	D;D;D	0.67900	0.954;0.954;0.954	T	0.68096	-0.5499	10	0.87932	D	0	.	15.9357	0.79704	0.0:0.0:0.0:1.0	.	733;1051;1003	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1003;733;1051	ENSP00000283943:K1003T;ENSP00000373697:K733T;ENSP00000373696:K1051T	ENSP00000283943:K1003T	K	-	2	0	TRIP12	230372317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.596000	0.82721	2.218000	0.71995	0.482000	0.46254	AAA		0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SLC16A14	151473	broad.mit.edu	37	2	230902224	230902224	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:230902224T>G	ENST00000295190.4	-	5	1863	c.1405A>C	c.(1405-1407)Aaa>Caa	p.K469Q		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	469						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.K469Q(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAATCATATTTTTGCGTGATG	0.333																																					p.K469Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1405C	2						.						90.0	89.0	89.0					2																	230902224		2203	4300	6503	230610468	SO:0001583	missense	151473	exon5			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1405A>C	2.37:g.230902224T>G	ENSP00000295190:p.Lys469Gln	Somatic		Capture	Illumina HiSeq	Phase_I	230610468	NM_152527	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743599	0.69418	.	.	ENSG00000163053	ENST00000295190	T	0.08370	3.1	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000004	T	0.16811	0.0404	L	0.29908	0.895	0.40923	D	0.984322	D	0.60160	0.987	D	0.65323	0.934	T	0.06180	-1.0841	10	0.30078	T	0.28	.	15.7623	0.78096	0.0:0.0:0.0:1.0	.	469	Q7RTX9	MOT14_HUMAN	Q	469	ENSP00000295190:K469Q	ENSP00000295190:K469Q	K	-	1	0	SLC16A14	230610468	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.207000	0.51106	2.311000	0.77944	0.533000	0.62120	AAA		0.333	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
SP140	11262	broad.mit.edu	37	2	231101894	231101894	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:231101894G>T	ENST00000392045.3	+	2	270	c.156G>T	c.(154-156)gaG>gaT	p.E52D	SP140_ENST00000417495.3_Missense_Mutation_p.E52D|SP140_ENST00000350136.5_Missense_Mutation_p.E32D|SP140_ENST00000486687.2_Missense_Mutation_p.E52D|SP140_ENST00000373645.3_Missense_Mutation_p.E52D|SP140_ENST00000420434.3_Missense_Mutation_p.E52D|SP140_ENST00000343805.6_Missense_Mutation_p.E52D|SP140_ENST00000544128.1_3'UTR	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	52	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E52D(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACAAGGTGGAGATTGCAAGTG	0.478																																					p.E52D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G156T	2						.						84.0	84.0	84.0					2																	231101894		2203	4300	6503	230810138	SO:0001583	missense	11262	exon2			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.156G>T	2.37:g.231101894G>T	ENSP00000375899:p.Glu52Asp	Somatic		Capture	Illumina HiSeq	Phase_I	230810138	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533843	0.27387	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	3.85	1.9	0.25705	Sp100 (2);	.	.	.	.	D	0.92437	0.7599	L	0.48362	1.52	0.23923	N	0.996451	P;B;P;B;P;B	0.35714	0.517;0.11;0.461;0.41;0.517;0.2	B;B;B;P;B;B	0.45276	0.29;0.112;0.191;0.475;0.429;0.29	D	0.84739	0.0750	9	0.39692	T	0.17	-17.7285	6.3101	0.21161	0.0:0.2072:0.5789:0.2139	.	52;52;52;52;52;52	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	D	52;52;52;32;52;52;52;52;52	ENSP00000440107:E52D;ENSP00000345846:E32D;ENSP00000375899:E52D;ENSP00000342096:E52D;ENSP00000398210:E52D;ENSP00000362749:E52D	ENSP00000342096:E52D	E	+	3	2	SP140	230810138	0.997000	0.39634	0.998000	0.56505	0.764000	0.43329	-0.002000	0.12924	0.514000	0.28300	0.655000	0.94253	GAG		0.478	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP140	11262	broad.mit.edu	37	2	231174696	231174696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:231174696G>A	ENST00000392045.3	+	23	2230	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N	SP140_ENST00000417495.3_Missense_Mutation_p.D592N|SP140_ENST00000350136.5_Missense_Mutation_p.D575N|SP140_ENST00000486687.2_Missense_Mutation_p.D630N|SP140_ENST00000420434.3_Missense_Mutation_p.D679N|SP140_ENST00000343805.6_Missense_Mutation_p.D646N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	706					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D706N(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTTCTGTTGCGACACTTGTTC	0.512																																					p.D706N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2116A	2						.						176.0	190.0	185.0					2																	231174696		2188	4295	6483	230882940	SO:0001583	missense	11262	exon23			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2116G>A	2.37:g.231174696G>A	ENSP00000375899:p.Asp706Asn	Somatic		Capture	Illumina HiSeq	Phase_I	230882940	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378260	0.42207	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	2.91	0.0831	0.14432	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.95535	0.8549	H	0.95437	3.67	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77557	0.99;0.959;0.982;0.941	D	0.86833	0.2012	9	0.62326	D	0.03	-10.0266	5.1426	0.14967	0.4246:0.0:0.5754:0.0	.	679;592;646;706	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	N	630;575;706;592;646;679	ENSP00000440107:D630N;ENSP00000345846:D575N;ENSP00000375899:D706N;ENSP00000342096:D646N;ENSP00000398210:D679N	ENSP00000342096:D646N	D	+	1	0	SP140	230882940	0.017000	0.18338	0.000000	0.03702	0.044000	0.14063	0.909000	0.28558	0.008000	0.14787	0.456000	0.33151	GAC		0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP100	6672	broad.mit.edu	37	2	231367802	231367802	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:231367802C>A	ENST00000264052.5	+	20	2097	c.1742C>A	c.(1741-1743)cCt>cAt	p.P581H	SP100_ENST00000340126.4_Missense_Mutation_p.P581H|SP100_ENST00000409112.1_Missense_Mutation_p.P581H	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	581					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P581H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACACTAGACCTTTGAAAAGA	0.289																																					p.P581H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1742A	2						.						80.0	83.0	82.0					2																	231367802		2203	4300	6503	231076046	SO:0001583	missense	6672	exon20			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1742C>A	2.37:g.231367802C>A	ENSP00000264052:p.Pro581His	Somatic		Capture	Illumina HiSeq	Phase_I	231076046	NM_001080391	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850837	0.51270	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;D;T	0.81659	2.13;-1.52;0.17	4.32	-0.644	0.11479	.	0.251419	0.21099	N	0.080191	T	0.65790	0.2725	L	0.27053	0.805	0.09310	N	0.999999	P;P;P	0.50156	0.932;0.889;0.889	P;B;B	0.46543	0.52;0.236;0.321	T	0.60791	-0.7193	10	0.87932	D	0	.	0.6551	0.00833	0.1757:0.3656:0.1715:0.2872	.	581;581;581	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	H	581;581;581;64	ENSP00000264052:P581H;ENSP00000386427:P581H;ENSP00000343023:P581H	ENSP00000264052:P581H	P	+	2	0	SP100	231076046	0.001000	0.12720	0.000000	0.03702	0.504000	0.33889	0.310000	0.19356	-0.116000	0.11893	0.563000	0.77884	CCT		0.289	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
PSMD1	5707	broad.mit.edu	37	2	231931824	231931824	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:231931824C>T	ENST00000308696.6	+	5	671	c.509C>T	c.(508-510)tCg>tTg	p.S170L	PSMD1_ENST00000409643.1_Splice_Site_p.S170L|PSMD1_ENST00000373635.4_Splice_Site_p.S170L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.S170L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATACTGGAGTCGGTAGGTAGA	0.378																																					p.S170L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	2						.						78.0	77.0	78.0					2																	231931824		2203	4300	6503	231640068	SO:0001630	splice_region_variant	5707	exon5			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.510+1C>T	2.37:g.231931824C>T		Somatic		Capture	Illumina HiSeq	Phase_I	231640068	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004965	0.93287	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	.	.	.	5.38	5.38	0.77491	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.84219	2.685	0.80722	D	1	B;D	0.59767	0.223;0.986	B;P	0.52066	0.016;0.689	T	0.80542	-0.1336	9	0.66056	D	0.02	-9.6127	19.1175	0.93348	0.0:1.0:0.0:0.0	.	170;170	Q99460;Q99460-2	PSMD1_HUMAN;.	L	170;170;176;170	.	ENSP00000309474:S170L	S	+	2	0	PSMD1	231640068	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.818000	0.86416	2.505000	0.84491	0.591000	0.81541	TCG		0.378	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		Missense_Mutation
NCL	4691	broad.mit.edu	37	2	232323764	232323764	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:232323764G>A	ENST00000322723.4	-	7	1353	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	371	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.V371V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CATTGCCAAAGACTTTCAAAC	0.388																																					p.V371V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1113T	2						.						185.0	158.0	167.0					2																	232323764		2203	4300	6503	232032008	SO:0001819	synonymous_variant	4691	exon7				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1113C>T	2.37:g.232323764G>A		Somatic		Capture	Illumina HiSeq	Phase_I	232032008	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.388	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
DIS3L2	129563	broad.mit.edu	37	2	233128132	233128132	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:233128132C>T	ENST00000409307.1	+	12	1641	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Silent_p.G547G					DIS3 like 3'-5' exoribonuclease 2									p.G547G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGTGGACGGCGCACTTCGTT	0.552																																					p.G547G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	2						.						72.0	75.0	74.0					2																	233128132		2070	4222	6292	232836376	SO:0001819	synonymous_variant	129563	exon13			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1641C>T	2.37:g.233128132C>T		Somatic		Capture	Illumina HiSeq	Phase_I	232836376	NM_152383		Silent	SNP	ENST00000409307.1	37	CCDS42834.1																																																																																				0.552	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
GIGYF2	26058	broad.mit.edu	37	2	233613721	233613721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:233613721G>T	ENST00000409547.1	+	7	507	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E66*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E66*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	66					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E66*(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCTGGATAAAGAATTTCTGCC	0.413																																					p.E66X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G196T	2						.						174.0	183.0	180.0					2																	233613721		2203	4300	6503	233321965	SO:0001587	stop_gained	26058	exon5			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.196G>T	2.37:g.233613721G>T	ENSP00000386537:p.Glu66*	Somatic		Capture	Illumina HiSeq	Phase_I	233321965	NM_001103146	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760608	0.89932	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000421433;ENST00000425040;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5233	20.2617	0.98447	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000362664:E66X	E	+	1	0	GIGYF2	233321965	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	9.808000	0.99193	2.793000	0.96121	0.655000	0.94253	GAA		0.413	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
GIGYF2	26058	broad.mit.edu	37	2	233625283	233625283	+	Missense_Mutation	SNP	C	C	T	rs545447550		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:233625283C>T	ENST00000409547.1	+	9	784	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GIGYF2_ENST00000373566.3_Missense_Mutation_p.S158L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S158L|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S158L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S158L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S158L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	158	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S158L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATGCATAGATCGCAGAGCTGG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18570	0.001		0.0	False		,,,				2504	0.0				p.S158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	2						.						159.0	150.0	153.0					2																	233625283		2203	4300	6503	233333527	SO:0001583	missense	26058	exon7			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.473C>T	2.37:g.233625283C>T	ENSP00000386537:p.Ser158Leu	Somatic		Capture	Illumina HiSeq	Phase_I	233333527	NM_001103146	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980483	0.74474	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000409196;ENST00000409451;ENST00000440945	T;T;T;T;T;T;T	0.78595	-0.96;-0.98;-0.96;-0.98;-1.03;-0.96;-1.19	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.992;0.992	D	0.90114	0.4194	10	0.87932	D	0	-7.2812	19.4973	0.95079	0.0:1.0:0.0:0.0	.	158;158;158	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	L	158	ENSP00000362667:S158L;ENSP00000362664:S158L;ENSP00000386765:S158L;ENSP00000386537:S158L;ENSP00000387070:S158L;ENSP00000387170:S158L;ENSP00000410297:S158L	ENSP00000362664:S158L	S	+	2	0	GIGYF2	233333527	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	5.999000	0.70665	2.597000	0.87782	0.655000	0.94253	TCG		0.408	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
KCNJ13	3769	broad.mit.edu	37	2	233633036	233633036	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:233633036C>T	ENST00000233826.3	-	3	1087	c.948G>A	c.(946-948)gaG>gaA	p.E316E	GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|AC064852.4_ENST00000427571.1_RNA|KCNJ13_ENST00000410029.1_Silent_p.E316E|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	316					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)	p.E316E(1)		endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGTCAAAATTCTCCATCTTGA	0.423																																					p.E316E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G948A	2						.						146.0	146.0	146.0					2																	233633036		2203	4300	6503	233341280	SO:0001819	synonymous_variant	3769	exon3			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.948G>A	2.37:g.233633036C>T		Somatic		Capture	Illumina HiSeq	Phase_I	233341280	NM_002242	A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	37	CCDS2498.1																																																																																				0.423	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242	
NEU2	4759	broad.mit.edu	37	2	233899234	233899234	+	Missense_Mutation	SNP	C	C	T	rs138984578	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:233899234C>T	ENST00000233840.3	+	2	610	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	204					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.R204C(2)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TGACCATGGGCGCACGTGGGC	0.667													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18063	0.0		0.0	False		,,,				2504	0.0				p.R204C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C610T	2						.	C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	67.0	68.0	68.0		610	-2.6	0.0	2	dbSNP_134	68	0,8600		0,0,4300	yes	missense	NEU2	NM_005383.2	180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	204/381	233899234	4,13002	2203	4300	6503	233607478	SO:0001583	missense	4759	exon2			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.610C>T	2.37:g.233899234C>T	ENSP00000233840:p.Arg204Cys	Somatic		Capture	Illumina HiSeq	Phase_I	233607478	NM_005383	Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288345	0.10513	9.08E-4	0.0	ENSG00000115488	ENST00000233840	D	0.84730	-1.89	4.88	-2.61	0.06171	Neuraminidase (2);	1.697920	0.02811	N	0.124326	T	0.78534	0.4298	L	0.34521	1.04	0.09310	N	0.999998	B	0.17465	0.022	B	0.12156	0.007	T	0.65701	-0.6104	10	0.62326	D	0.03	-2.2125	9.2763	0.37700	0.3349:0.3857:0.2794:0.0	.	204	Q9Y3R4	NEUR2_HUMAN	C	204	ENSP00000233840:R204C	ENSP00000233840:R204C	R	+	1	0	NEU2	233607478	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-1.589000	0.02104	-0.137000	0.11455	-0.305000	0.09177	CGC		0.667	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
ATG16L1	55054	broad.mit.edu	37	2	234198998	234198998	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234198998C>T	ENST00000392017.4	+	14	1686	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	ATG16L1_ENST00000392020.4_Splice_Site_p.R458*|ATG16L1_ENST00000373525.5_Splice_Site_p.R298*|ATG16L1_ENST00000392018.1_Splice_Site_p.R494*|SCARNA6_ENST00000515982.1_RNA|ATG16L1_ENST00000347464.5_Splice_Site_p.R314*	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	477					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.R477*(1)|p.R136R(1)|p.R477R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CTGGGACATTCGGTATGATAC	0.428																																					p.R393X												.	.	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	lung(2)|large_intestine(1)	c.C1177T	2						.						159.0	146.0	150.0					2																	234198998		2203	4300	6503	233863737	SO:0001630	splice_region_variant	55054	exon14			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1430+1C>T	2.37:g.234198998C>T		Somatic		Capture	Illumina HiSeq	Phase_I	233863737	NM_001190266	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Nonsense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.093628	0.97276	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	.	.	.	5.9	4.99	0.66335	.	0.049043	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	14.0143	0.64515	0.3084:0.6916:0.0:0.0	.	.	.	.	X	477;314;298;458;494;136	.	ENSP00000334016:R136X	R	+	1	2	ATG16L1	233863737	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.482000	0.53186	2.788000	0.95919	0.650000	0.86243	CGA		0.428	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974	Nonsense_Mutation
USP40	55230	broad.mit.edu	37	2	234394438	234394438	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234394438A>G	ENST00000427112.2	-	28	3415	c.3380T>C	c.(3379-3381)tTc>tCc	p.F1127S	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Missense_Mutation_p.F1127S|USP40_ENST00000450966.1_Missense_Mutation_p.F1139S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1127					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F1139S(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGCCACTCGAACTTTTCGGG	0.502																																					p.S1059P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3175C	2						.						24.0	27.0	26.0					2																	234394438		1878	4099	5977	234059177	SO:0001583	missense	55230	exon27			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3380T>C	2.37:g.234394438A>G	ENSP00000387898:p.Phe1127Ser	Somatic		Capture	Illumina HiSeq	Phase_I	234059177	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.32|18.32	3.597548|3.597548	0.66332|0.66332	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112|ENST00000454354	T;T;T|.	0.06608|.	3.28;3.29;3.29|.	5.75|5.75	4.61|4.61	0.57282|0.57282	.|.	0.526305|.	0.22470|.	N|.	0.059621|.	T|T	0.47875|0.47875	0.1469|0.1469	M|M	0.72894|0.72894	2.215|2.215	0.26193|0.26193	N|N	0.97956|0.97956	P|.	0.49253|.	0.921|.	P|.	0.49192|.	0.602|.	T|T	0.45948|0.45948	-0.9226|-0.9226	10|5	0.42905|.	T|.	0.14|.	.|.	5.8829|5.8829	0.18866|0.18866	0.68:0.0:0.0697:0.2503|0.68:0.0:0.0697:0.2503	.|.	1139|.	Q9NVE5-3|.	.|.	S|P	1139;1127;1127|95	ENSP00000415434:F1139S;ENSP00000251722:F1127S;ENSP00000387898:F1127S|.	ENSP00000251722:F1127S|.	F|S	-|-	2|1	0|0	USP40|USP40	234059177|234059177	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.970000|0.970000	0.65996|0.65996	2.374000|2.374000	0.44274|0.44274	1.015000|1.015000	0.39444|0.39444	0.528000|0.528000	0.53228|0.53228	TTC|TCG		0.502	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
USP40	55230	broad.mit.edu	37	2	234420362	234420362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234420362G>A	ENST00000427112.2	-	19	2551	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	USP40_ENST00000409945.1_Missense_Mutation_p.S15L|USP40_ENST00000251722.6_Missense_Mutation_p.S839L|USP40_ENST00000450966.1_Missense_Mutation_p.S851L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	839					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S851L(4)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACCTGAGACGAACTTGGTGC	0.363																																					p.R771C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C2311T	2						.						113.0	102.0	106.0					2																	234420362		1848	4095	5943	234085101	SO:0001583	missense	55230	exon18			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2516C>T	2.37:g.234420362G>A	ENSP00000387898:p.Ser839Leu	Somatic		Capture	Illumina HiSeq	Phase_I	234085101	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368371|3.368371	0.61513|0.61513	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|1.574940	.|0.04106	.|N	.|0.313785	T|T	0.65913|0.65913	0.2737|0.2737	M|M	0.62723|0.62723	1.935|1.935	0.26592|0.26592	N|N	0.973182|0.973182	.|P;P;D;P	.|0.61080	.|0.878;0.926;0.989;0.948	.|B;B;P;B	.|0.50537	.|0.228;0.404;0.643;0.397	T|T	0.59731|0.59731	-0.7399|-0.7399	5|10	.|0.66056	.|D	.|0.02	.|.	15.2843|15.2843	0.73816|0.73816	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|839;851;15;495	.|Q9NVE5;Q9NVE5-3;Q9NVE5-2;B4DN96	.|UBP40_HUMAN;.;.;.	C|L	15|851;839;839;15	.|ENSP00000415434:S851L;ENSP00000251722:S839L;ENSP00000387898:S839L;ENSP00000386664:S15L	.|ENSP00000251722:S839L	R|S	-|-	1|2	0|0	USP40|USP40	234085101|234085101	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.915000|0.915000	0.54546|0.54546	5.238000|5.238000	0.65366|0.65366	2.409000|2.409000	0.81822|0.81822	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.363	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
UGT1A1	54658	broad.mit.edu	37	2	234526854	234526854	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234526854C>A	ENST00000373450.4	+	1	564	c.501C>A	c.(499-501)gtC>gtA	p.V167V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	170					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.V167V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTCTGTGGTCTTCGCCAGGG	0.463																																					p.V167V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	2						.						166.0	170.0	169.0					2																	234526854		2203	4300	6503	234191593	SO:0001819	synonymous_variant	54576	exon1			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.501C>A	2.37:g.234526854C>A		Somatic		Capture	Illumina HiSeq	Phase_I	234191593	NM_019076	A6NJC3|B8K286	Silent	SNP	ENST00000373450.4	37	CCDS33402.1																																																																																				0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1		
UGT1A10	54575	broad.mit.edu	37	2	234545534	234545534	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234545534G>A	ENST00000344644.5	+	1	435	c.366G>A	c.(364-366)tcG>tcA	p.S122S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.S122S	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	122					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.S122S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TATTTTTTTCGCATTGCAGGA	0.358																																					p.S122S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G366A	2						.						108.0	116.0	113.0					2																	234545534		2203	4300	6503	234210273	SO:0001819	synonymous_variant	54575	exon1			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.366G>A	2.37:g.234545534G>A		Somatic		Capture	Illumina HiSeq	Phase_I	234210273	NM_019075	O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	CCDS33403.1																																																																																				0.358	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075	
UGT1A9	54600	broad.mit.edu	37	2	234580888	234580888	+	Missense_Mutation	SNP	G	G	A	rs555995846		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234580888G>A	ENST00000354728.4	+	1	390	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	UGT1A1_ENST00000609637.1_Missense_Mutation_p.R103Q|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	103					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R103Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GCACAAGTACGAAGTATATAT	0.353													A|||	1	0.000199681	0.0	0.0	5008	,	,		21329	0.001		0.0	False		,,,				2504	0.0				p.R103Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	2						.						90.0	90.0	90.0					2																	234580888		2203	4300	6503	234245627	SO:0001583	missense	54600	exon1			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.308G>A	2.37:g.234580888G>A	ENSP00000346768:p.Arg103Gln	Somatic		Capture	Illumina HiSeq	Phase_I	234245627	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.292902	0.05568	.	.	ENSG00000241119	ENST00000354728	T	0.61742	0.08	3.45	-6.91	0.01649	.	.	.	.	.	T	0.31136	0.0787	N	0.17631	0.505	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13388	-1.0511	9	0.27785	T	0.31	.	3.4061	0.07341	0.4199:0.0:0.2874:0.2927	.	103;103	Q5DSZ5;O60656	.;UD19_HUMAN	Q	103	ENSP00000346768:R103Q	ENSP00000346768:R103Q	R	+	2	0	UGT1A9	234245627	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.159000	0.01280	-1.303000	0.02332	-1.721000	0.00707	CGA		0.353	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UGT1A7	54577	broad.mit.edu	37	2	234591044	234591044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234591044G>A	ENST00000373426.3	+	1	461	c.461G>A	c.(460-462)gGc>gAc	p.G154D	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	154					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.G154D(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GATGCCTGTGGCTTAATTGTT	0.418																																					p.G154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	2						.						156.0	159.0	158.0					2																	234591044		2203	4300	6503	234255783	SO:0001583	missense	54577	exon1			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.461G>A	2.37:g.234591044G>A	ENSP00000362525:p.Gly154Asp	Somatic		Capture	Illumina HiSeq	Phase_I	234255783	NM_019077	B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.738552|2.738552	0.49045|0.49045	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.65549	.|-0.16	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	.|.	.|.	.|.	.|.	D|D	0.86218|0.86218	0.5880|0.5880	H|H	0.97732|0.97732	4.065|4.065	0.44523|0.44523	D|D	0.997475|0.997475	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.74023	.|0.982;0.982	D|D	0.91745|0.91745	0.5407|0.5407	5|9	.|0.87932	.|D	.|0	.|.	17.0227|17.0227	0.86438|0.86438	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|154;154	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	T|D	11|154	.|ENSP00000362525:G154D	.|ENSP00000362525:G154D	A|G	+|+	1|2	0|0	UGT1A7|UGT1A7	234255783|234255783	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.138000|0.138000	0.21146|0.21146	7.539000|7.539000	0.82063|0.82063	2.250000|2.250000	0.74265|0.74265	0.491000|0.491000	0.48974|0.48974	GCT|GGC		0.418	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077	
UGT1A5	54579	broad.mit.edu	37	2	234622135	234622135	+	Silent	SNP	G	G	A	rs17868332		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234622135G>A	ENST00000373414.3	+	1	498	c.498G>A	c.(496-498)tcG>tcA	p.S166S	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Silent_p.S166S|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	166						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S166S(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGTACCTGTCGATTCCTGCTG	0.473																																					p.S166S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G498A	2						.	G	,,,,,,	0,4406		0,0,2203	196.0	190.0	192.0		,,,,498,,	-9.8	0.0	2	dbSNP_123	192	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,166/535,,	234622135	1,13005	2203	4300	6503	234286874	SO:0001819	synonymous_variant	54579	exon1			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.498G>A	2.37:g.234622135G>A		Somatic		Capture	Illumina HiSeq	Phase_I	234286874	NM_019078	B8K294	Silent	SNP	ENST00000373414.3	37	CCDS33404.1																																																																																				0.473	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
UGT1A6	54578	broad.mit.edu	37	2	234652376	234652376	+	Intron	SNP	C	C	T	rs189214805		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234652376C>T	ENST00000305139.6	+	2	1000				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCATAGATATCGCGTTTCTTG	0.632																																					p.D63N												.	.	0			c.G187A	2						.						135.0	148.0	144.0					2																	234652376		2050	4208	6258	234317115	SO:0001627	intron_variant	414061	exon1			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23304C>T	2.37:g.234652376C>T		Somatic		Capture	Illumina HiSeq	Phase_I	234317115	NM_001001394	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																				0.632	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
IQCA1	79781	broad.mit.edu	37	2	237405897	237405897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:237405897C>T	ENST00000409907.3	-	2	519	c.245G>A	c.(244-246)cGc>cAc	p.R82H	IQCA1_ENST00000431676.2_Missense_Mutation_p.R82H|IQCA1_ENST00000309507.5_Missense_Mutation_p.R78H	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	82							ATP binding (GO:0005524)	p.R82H(1)|p.R89H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTCCAGGATGCGGCCCATCAC	0.512																																					p.R82H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G245A	2						.						48.0	49.0	49.0					2																	237405897		1969	4146	6115	237070636	SO:0001583	missense	79781	exon2			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.245G>A	2.37:g.237405897C>T	ENSP00000387347:p.Arg82His	Somatic		Capture	Illumina HiSeq	Phase_I	237070636	NM_024726	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317426	0.95682	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.98732	-4.9;-4.89;-5.1	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000007	D	0.99324	0.9763	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99143	1.0856	10	0.87932	D	0	.	19.4545	0.94882	0.0:1.0:0.0:0.0	.	82;89;82	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	H	82;89;78;82;78	ENSP00000387347:R82H;ENSP00000311951:R78H;ENSP00000407213:R82H	ENSP00000254653:R82H	R	-	2	0	IQCA1	237070636	1.000000	0.71417	0.900000	0.35374	0.865000	0.49528	7.597000	0.82733	2.590000	0.87494	0.650000	0.86243	CGC		0.512	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
COL6A3	1293	broad.mit.edu	37	2	238283237	238283237	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238283237C>A	ENST00000295550.4	-	8	3949	c.3497G>T	c.(3496-3498)gGc>gTc	p.G1166V	COL6A3_ENST00000472056.1_Missense_Mutation_p.G559V|COL6A3_ENST00000392004.3_Missense_Mutation_p.G960V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G960V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G960V|COL6A3_ENST00000392003.2_Missense_Mutation_p.G759V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G965V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G966V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1166	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1166V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTCCCGATGCCAATGCCAAT	0.622																																					p.G1166V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3497T	2						.						101.0	79.0	86.0					2																	238283237		2203	4300	6503	237947976	SO:0001583	missense	1293	exon8			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3497G>T	2.37:g.238283237C>A	ENSP00000295550:p.Gly1166Val	Somatic		Capture	Illumina HiSeq	Phase_I	237947976	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398668	0.62177	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000032	D	0.97532	0.9192	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.993;0.997;1.0	D	0.98070	1.0398	10	0.54805	T	0.06	.	19.1544	0.93504	0.0:1.0:0.0:0.0	.	559;759;960;960;1166	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	V	1166;965;960;559;960;966;960;759	ENSP00000295550:G1166V;ENSP00000315609:G965V;ENSP00000315873:G960V;ENSP00000418285:G559V;ENSP00000386844:G960V;ENSP00000295546:G966V;ENSP00000375861:G960V;ENSP00000375860:G759V	ENSP00000295550:G1166V	G	-	2	0	COL6A3	237947976	1.000000	0.71417	0.997000	0.53966	0.061000	0.15899	7.563000	0.82314	2.593000	0.87608	0.655000	0.94253	GGC		0.622	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238287309	238287309	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238287309C>A	ENST00000295550.4	-	6	2919	c.2467G>T	c.(2467-2469)Ggt>Tgt	p.G823C	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.G617C|COL6A3_ENST00000353578.4_Missense_Mutation_p.G617C|COL6A3_ENST00000409809.1_Missense_Mutation_p.G617C|COL6A3_ENST00000392003.2_Missense_Mutation_p.G416C|COL6A3_ENST00000347401.3_Missense_Mutation_p.G622C|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	823	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)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G823C(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCTCCACACCTCCACTAACA	0.542																																					p.G823C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2467T	2						.						96.0	98.0	98.0					2																	238287309		2203	4300	6503	237952048	SO:0001583	missense	1293	exon6			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2467G>T	2.37:g.238287309C>A	ENSP00000295550:p.Gly823Cys	Somatic		Capture	Illumina HiSeq	Phase_I	237952048	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059886	0.55325	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;T;T	0.88741	-2.42;-2.42;-2.39;-2.39;0.12;-0.03	5.22	5.22	0.72569	.	0.126066	0.35436	N	0.003205	D	0.93099	0.7803	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	0.972;0.999;1.0;0.975	P;D;D;P	0.83275	0.664;0.926;0.996;0.594	D	0.93098	0.6506	10	0.56958	D	0.05	.	14.7492	0.69513	0.0:0.8558:0.1442:0.0	.	416;617;617;823	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	C	823;622;617;617;617;416	ENSP00000295550:G823C;ENSP00000315609:G622C;ENSP00000315873:G617C;ENSP00000386844:G617C;ENSP00000375861:G617C;ENSP00000375860:G416C	ENSP00000295550:G823C	G	-	1	0	COL6A3	237952048	0.006000	0.16342	0.999000	0.59377	0.997000	0.91878	1.411000	0.34702	2.595000	0.87683	0.655000	0.94253	GGT		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238287798	238287798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238287798C>T	ENST00000295550.4	-	6	2430	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.D454N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D454N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D454N|COL6A3_ENST00000392003.2_Missense_Mutation_p.D253N|COL6A3_ENST00000347401.3_Missense_Mutation_p.D459N|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	660	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D660N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATTACAAAGTCGCGCACATAA	0.388																																					p.D660N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1978A	2						.						76.0	75.0	75.0					2																	238287798		2203	4300	6503	237952537	SO:0001583	missense	1293	exon6			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1978G>A	2.37:g.238287798C>T	ENSP00000295550:p.Asp660Asn	Somatic		Capture	Illumina HiSeq	Phase_I	237952537	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896768	0.72639	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.52	4.65	0.58169	von Willebrand factor, type A (3);	0.000000	0.50627	U	0.000105	D	0.82655	0.5084	N	0.16166	0.38	0.80722	D	1	D;D;D;D	0.89917	0.995;0.988;1.0;1.0	D;P;D;D	0.83275	0.939;0.901;0.988;0.996	T	0.81072	-0.1098	10	0.25106	T	0.35	.	14.5695	0.68202	0.0:0.93:0.0:0.07	.	253;454;454;660	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	N	660;459;454;454;454;253	ENSP00000295550:D660N;ENSP00000315609:D459N;ENSP00000315873:D454N;ENSP00000386844:D454N;ENSP00000375861:D454N;ENSP00000375860:D253N	ENSP00000295550:D660N	D	-	1	0	COL6A3	237952537	1.000000	0.71417	0.988000	0.46212	0.774000	0.43823	4.762000	0.62250	1.339000	0.45563	-0.137000	0.14449	GAC		0.388	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238289669	238289669	+	Missense_Mutation	SNP	C	C	T	rs34934127	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238289669C>T	ENST00000295550.4	-	5	2238	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A189T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A390T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A390T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A390T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A189T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A395T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A596T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	596	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A596T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGTCGAAAGCGATCTCTTCC	0.582																																					p.A596T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1786A	2						.						85.0	79.0	81.0					2																	238289669		2203	4300	6503	237954408	SO:0001583	missense	1293	exon5			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1786G>A	2.37:g.238289669C>T	ENSP00000295550:p.Ala596Thr	Somatic		Capture	Illumina HiSeq	Phase_I	237954408	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189977	0.58017	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.81	5.81	0.92471	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.94282	0.8163	M	0.82716	2.605	0.48696	D	0.999693	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;0.999;0.984	D	0.93996	0.7271	10	0.59425	D	0.04	.	20.0804	0.97772	0.0:1.0:0.0:0.0	.	596;189;189;390;390;596	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	T	596;395;390;189;390;596;390;189;596	ENSP00000295550:A596T;ENSP00000315609:A395T;ENSP00000315873:A390T;ENSP00000418285:A189T;ENSP00000386844:A390T;ENSP00000295546:A596T;ENSP00000375861:A390T;ENSP00000375860:A189T;ENSP00000389539:A596T	ENSP00000295550:A596T	A	-	1	0	COL6A3	237954408	0.992000	0.36948	0.190000	0.23270	0.134000	0.20937	3.054000	0.49908	2.738000	0.93877	0.655000	0.94253	GCT		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
MLPH	79083	broad.mit.edu	37	2	238455287	238455287	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238455287A>G	ENST00000264605.3	+	13	1872	c.1578A>G	c.(1576-1578)agA>agG	p.R526R	MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000409373.1_Silent_p.R406R|MLPH_ENST00000410032.1_Silent_p.R383R|MLPH_ENST00000338530.4_Silent_p.R498R	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	526					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.R526R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TTGGCAAGAGACCAGAGGACC	0.522																																					p.R498R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1494G	2						.						113.0	106.0	108.0					2																	238455287		2203	4300	6503	238120026	SO:0001819	synonymous_variant	79083	exon12			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1578A>G	2.37:g.238455287A>G		Somatic		Capture	Illumina HiSeq	Phase_I	238120026	NM_001042467	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	4.459	0.084934	0.08583	.	.	ENSG00000115648	ENST00000415753	.	.	.	4.1	-5.29	0.02747	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-0.2037	2.365	0.04316	0.1488:0.4163:0.1402:0.2947	.	.	.	.	A	162	.	.	T	+	1	0	MLPH	238120026	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.427000	0.06999	-1.171000	0.02765	-0.624000	0.04008	ACC		0.522	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101	
LRRFIP1	9208	broad.mit.edu	37	2	238662108	238662108	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238662108G>A	ENST00000392000.4	+	8	757	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E342K|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E158K|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E190K	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	214					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.E190K(1)|p.E214K(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCGGCAGTACGAAGAGAAAAA	0.438																																					p.E190K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G568A	2						.						97.0	100.0	99.0					2																	238662108		2203	4300	6503	238326847	SO:0001583	missense	9208	exon7			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.640G>A	2.37:g.238662108G>A	ENSP00000375857:p.Glu214Lys	Somatic		Capture	Illumina HiSeq	Phase_I	238326847	NM_004735	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322028	0.95708	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	.	0.211812	0.47093	D	0.000255	T	0.56804	0.2010	L	0.39633	1.23	0.80722	D	1	P;D;D;D;D	0.89917	0.954;0.999;0.999;1.0;0.975	P;D;D;D;P	0.76071	0.743;0.987;0.983;0.987;0.743	T	0.45234	-0.9275	10	0.30078	T	0.28	-28.2469	19.0647	0.93106	0.0:0.0:1.0:0.0	.	158;158;214;190;342	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	K	342;158;332;190;214	ENSP00000310109:E342K;ENSP00000289175:E158K;ENSP00000244815:E190K;ENSP00000375857:E214K	ENSP00000244815:E190K	E	+	1	0	LRRFIP1	238326847	1.000000	0.71417	0.923000	0.36655	0.943000	0.58893	9.141000	0.94612	2.820000	0.97059	0.650000	0.86243	GAA		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
RBM44	375316	broad.mit.edu	37	2	238726815	238726815	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238726815T>C	ENST00000409864.1	+	3	1510	c.1256T>C	c.(1255-1257)gTc>gCc	p.V419A	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.V419A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	418						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.V419A(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAGATCGCAGTCAGAGATAAT	0.373																																					p.V419A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1256C	2						.						43.0	41.0	41.0					2																	238726815		1914	4130	6044	238391554	SO:0001583	missense	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1256T>C	2.37:g.238726815T>C	ENSP00000386727:p.Val419Ala	Somatic		Capture	Illumina HiSeq	Phase_I	238391554	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	4.380	0.070116	0.08436	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.23552	1.9;1.9	5.86	-2.55	0.06288	.	1.090690	0.06956	N	0.815527	T	0.22975	0.0555	L	0.47716	1.5	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.37220	-0.9715	10	0.34782	T	0.22	0.0133	11.8458	0.52383	0.0:0.4567:0.0:0.5433	.	418	Q6ZP01	RBM44_HUMAN	A	419	ENSP00000321179:V419A;ENSP00000386727:V419A	ENSP00000321179:V419A	V	+	2	0	RBM44	238391554	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.238000	0.08977	-0.315000	0.08703	0.482000	0.46254	GTC		0.373	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
PER2	8864	broad.mit.edu	37	2	239179990	239179990	+	Silent	SNP	C	C	T	rs143029196		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:239179990C>T	ENST00000254657.3	-	6	1014	c.735G>A	c.(733-735)ccG>ccA	p.P245P	PER2_ENST00000440245.1_Silent_p.P245P|PER2_ENST00000355768.2_Silent_p.P245P|PER2_ENST00000254658.3_Silent_p.P245P	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	245	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.P245P(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAAGCTTGTACGGGGAGGTGA	0.562																																					p.P245P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G735A	2						.			1,4405	2.1+/-5.4	0,1,2202	143.0	126.0	132.0		735	-10.1	0.0	2	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	PER2	NM_022817.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/1256	239179990	1,13005	2203	4300	6503	238844729	SO:0001819	synonymous_variant	8864	exon6			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.735G>A	2.37:g.239179990C>T		Somatic		Capture	Illumina HiSeq	Phase_I	238844729	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																				0.562	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
ATAD2B	54454	broad.mit.edu	37	2	24108602	24108602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:24108602C>A	ENST00000238789.5	-	5	1013	c.670G>T	c.(670-672)Gaa>Taa	p.E224*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	224						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.E224*(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACAAATTCTGTATCTGTC	0.358																																					p.E224X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G670T	2						.						116.0	106.0	109.0					2																	24108602		1868	4098	5966	23962106	SO:0001587	stop_gained	54454	exon5			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.670G>T	2.37:g.24108602C>A	ENSP00000238789:p.Glu224*	Somatic		Capture	Illumina HiSeq	Phase_I	23962106	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	38	6.999006	0.97990	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.7776	0.85555	0.0:1.0:0.0:0.0	.	.	.	.	X	224;62;224	.	ENSP00000238789:E224X	E	-	1	0	ATAD2B	23962106	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.704000	0.74639	2.469000	0.83416	0.579000	0.79373	GAA		0.358	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
TRAF3IP1	26146	broad.mit.edu	37	2	239253146	239253146	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:239253146G>T	ENST00000373327.4	+	9	1390	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.E390*|TRAF3IP1_ENST00000391993.3_Intron	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	390	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E390*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGGAACAAAAGAAGCTAATAT	0.383																																					p.E390X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1168T	2						.						92.0	91.0	91.0					2																	239253146		2203	4300	6503	238917885	SO:0001587	stop_gained	26146	exon9			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1168G>T	2.37:g.239253146G>T	ENSP00000362424:p.Glu390*	Somatic		Capture	Illumina HiSeq	Phase_I	238917885	NM_015650	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329475	0.95733	.	.	ENSG00000204104	ENST00000373327;ENST00000391994	.	.	.	5.15	4.28	0.50868	.	0.250827	0.31134	N	0.008191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-7.7077	9.6801	0.40065	0.0958:0.0:0.9042:0.0	.	.	.	.	X	390	.	ENSP00000362424:E390X	E	+	1	0	TRAF3IP1	238917885	0.989000	0.36119	0.057000	0.19452	0.072000	0.16883	2.274000	0.43390	1.162000	0.42619	-0.140000	0.14226	GAA		0.383	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650	
NDUFA10	4705	broad.mit.edu	37	2	240944651	240944651	+	Missense_Mutation	SNP	C	C	T	rs557444462		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:240944651C>T	ENST00000252711.2	-	8	966	c.866G>A	c.(865-867)cGc>cAc	p.R289H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.R319H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.R289H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	289					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.R289H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GTATAAAGTGCGATTGTCCTG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17620	0.0		0.0	False		,,,				2504	0.001				p.R289H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G866A	2						.						159.0	149.0	152.0					2																	240944651		2203	4300	6503	240593324	SO:0001583	missense	4705	exon8			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.866G>A	2.37:g.240944651C>T	ENSP00000252711:p.Arg289His	Somatic		Capture	Illumina HiSeq	Phase_I	240593324	NM_004544	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	3.561	-0.089711	0.07053	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300	D;D;D	0.94417	-3.42;-3.42;-3.42	4.71	1.54	0.23209	.	0.791168	0.11100	N	0.599750	D	0.92548	0.7633	L	0.36672	1.1	0.09310	N	0.999999	B;D	0.65815	0.023;0.995	B;P	0.54706	0.01;0.759	D	0.83822	0.0247	10	0.13470	T	0.59	-7.678	10.0357	0.42127	0.5324:0.4676:0.0:0.0	.	319;289	Q8WXC9;O95299	.;NDUAA_HUMAN	H	54;289;289;289;52;319	ENSP00000252711:R289H;ENSP00000385697:R289H;ENSP00000302321:R319H	ENSP00000252711:R289H	R	-	2	0	NDUFA10	240593324	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.199000	0.17237	0.482000	0.27582	-0.169000	0.13324	CGC		0.463	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544	
OR6B2	389090	broad.mit.edu	37	2	240969005	240969005	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:240969005A>G	ENST00000402971.2	-	1	901	c.842T>C	c.(841-843)gTc>gCc	p.V281A		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281A(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TATTGGCGTGACAACAGTGTA	0.473																																					p.V281A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T842C	2						.						119.0	116.0	117.0					2																	240969005		1927	4132	6059	240617678	SO:0001583	missense	389090	exon1				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.842T>C	2.37:g.240969005A>G	ENSP00000384563:p.Val281Ala	Somatic		Capture	Illumina HiSeq	Phase_I	240617678	NM_001005853	B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	A	7.121	0.577887	0.13686	.	.	ENSG00000182083	ENST00000402971	T	0.00296	8.24	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.345366	0.20846	N	0.084615	T	0.00356	0.0011	M	0.82923	2.615	0.20563	N	0.999884	B	0.21821	0.061	B	0.32211	0.142	T	0.27872	-1.0061	10	0.87932	D	0	.	8.178	0.31294	0.7966:0.2034:0.0:0.0	.	281	Q6IFH4	OR6B2_HUMAN	A	281	ENSP00000384563:V281A	ENSP00000384563:V281A	V	-	2	0	OR6B2	240617678	0.092000	0.21681	0.500000	0.27589	0.077000	0.17291	3.863000	0.56016	1.938000	0.56188	0.482000	0.46254	GTC		0.473	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853	
OR6B3	150681	broad.mit.edu	37	2	240985214	240985214	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:240985214G>T	ENST00000319423.4	-	1	275	c.276C>A	c.(274-276)atC>atA	p.I92I	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGACGAAAGAGATGCGTTTCT	0.557																																					p.I92I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276A	2						.						32.0	34.0	33.0					2																	240985214		1901	4096	5997	240633887	SO:0001819	synonymous_variant	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.276C>A	2.37:g.240985214G>T		Somatic		Capture	Illumina HiSeq	Phase_I	240633887	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																				0.557	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
PPP1R7	5510	broad.mit.edu	37	2	242097941	242097941	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:242097941T>G	ENST00000234038.6	+	4	754	c.280T>G	c.(280-282)Ttt>Gtt	p.F94V	PPP1R7_ENST00000406106.3_Missense_Mutation_p.F94V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.F35V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.F51V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.F51V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.F94V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.F94V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	94					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.F94V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GATTGAAGGATTTGAGGTACT	0.453																																					p.F94V	NSCLC(62;446 1299 5417 11238 27640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T280G	2						.						218.0	193.0	201.0					2																	242097941		2203	4300	6503	241746614	SO:0001583	missense	5510	exon4			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.280T>G	2.37:g.242097941T>G	ENSP00000234038:p.Phe94Val	Somatic		Capture	Illumina HiSeq	Phase_I	241746614	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.17|14.17	2.455788|2.455788	0.43634|0.43634	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000450367|ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987;ENST00000427172	.|T;T;T;T;T;T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67;2.38;1.81;1.67;1.67;1.83	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.112563	.|0.64402	.|D	.|0.000012	T|T	0.36386|0.36386	0.0965|0.0965	M|M	0.66939|0.66939	2.045|2.045	0.38994|0.38994	D|D	0.959203|0.959203	.|B;B;P;B;B;B	.|0.34615	.|0.104;0.202;0.459;0.444;0.144;0.09	.|B;B;B;B;B;B	.|0.35607	.|0.058;0.086;0.16;0.206;0.107;0.089	T|T	0.42932|0.42932	-0.9422|-0.9422	5|10	.|0.72032	.|D	.|0.01	-9.3608|-9.3608	15.137|15.137	0.72576|0.72576	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|78;35;51;94;94;94	.|C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.|.;.;.;PP1R7_HUMAN;.;.	E|V	74|78;35;35;94;51;94;94;100;94;51;103	.|ENSP00000396376:F78V;ENSP00000385012:F35V;ENSP00000412092:F35V;ENSP00000385657:F94V;ENSP00000272983:F51V;ENSP00000234038:F94V;ENSP00000385498:F94V;ENSP00000409719:F100V;ENSP00000385022:F94V;ENSP00000385466:F51V;ENSP00000397985:F103V	.|ENSP00000234038:F94V	D|F	+|+	3|1	2|0	PPP1R7|PPP1R7	241746614|241746614	0.995000|0.995000	0.38212|0.38212	0.128000|0.128000	0.21923|0.21923	0.919000|0.919000	0.55068|0.55068	2.457000|2.457000	0.45005|0.45005	2.034000|2.034000	0.60081|0.60081	0.528000|0.528000	0.53228|0.53228	GAT|TTT		0.453	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
HDLBP	3069	broad.mit.edu	37	2	242179456	242179456	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:242179456G>A	ENST00000391975.1	-	18	2478	c.2251C>T	c.(2251-2253)Cgc>Tgc	p.R751C	HDLBP_ENST00000310931.4_Missense_Mutation_p.R751C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R751C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R718C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	751	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R751C(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CGCACCTTGCGAATTTTGCCG	0.562																																					p.R751C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2251T	2						.						169.0	157.0	161.0					2																	242179456		2203	4300	6503	241828129	SO:0001583	missense	3069	exon18				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2251C>T	2.37:g.242179456G>A	ENSP00000375836:p.Arg751Cys	Somatic		Capture	Illumina HiSeq	Phase_I	241828129	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.751566|4.751566	0.89753|0.89753	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.77|.	5.59|5.59	5.59|5.59	0.84812|0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.098090|.	0.64402|.	D|.	0.000001|.	D|D	0.83161|0.83161	0.5194|0.5194	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.77557|.	0.99;0.967|.	D|D	0.84199|0.84199	0.0449|0.0449	10|5	0.87932|.	D|.	0|.	-13.8589|-13.8589	19.6061|19.6061	0.95582|0.95582	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	718;751|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	C|L	751;751;751;718;260|559	ENSP00000375836:R751C;ENSP00000375837:R751C;ENSP00000312042:R751C;ENSP00000399139:R718C;ENSP00000388876:R260C|.	ENSP00000312042:R751C|.	R|S	-|-	1|2	0|0	HDLBP|HDLBP	241828129|241828129	1.000000|1.000000	0.71417|0.71417	0.042000|0.042000	0.18584|0.18584	0.646000|0.646000	0.38490|0.38490	9.761000|9.761000	0.98940|0.98940	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.562	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
ACP1	52	broad.mit.edu	37	2	271878	271878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:271878G>A	ENST00000272065.5	+	2	149	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	ACP1_ENST00000439645.2_Missense_Mutation_p.R19Q|ACP1_ENST00000272067.6_Missense_Mutation_p.R19Q|ACP1_ENST00000405233.1_Missense_Mutation_p.R19Q|ACP1_ENST00000407983.3_Missense_Mutation_p.R19Q|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	19				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R19Q(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	AACATTTGTCGATCACCCATT	0.448																																					p.R19Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G56A	2						.						122.0	126.0	124.0					2																	271878		2203	4300	6503	261878	SO:0001583	missense	52	exon2			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.56G>A	2.37:g.271878G>A	ENSP00000272065:p.Arg19Gln	Somatic		Capture	Illumina HiSeq	Phase_I	261878	NM_007099	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950476	0.92660	.	.	ENSG00000143727	ENST00000272067;ENST00000272065;ENST00000407983;ENST00000439645;ENST00000405233;ENST00000449425	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.63	5.63	0.86233	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	H	0.95504	3.68	0.80722	D	1	D;P;P	0.61080	0.989;0.91;0.786	P;P;B	0.58454	0.839;0.6;0.446	D	0.91625	0.5314	10	0.66056	D	0.02	-4.828	17.5236	0.87793	0.0:0.0:1.0:0.0	.	19;19;19	P24666-2;P24666;B5MCC7	.;PPAC_HUMAN;.	Q	19	ENSP00000272067:R19Q;ENSP00000272065:R19Q;ENSP00000385404:R19Q;ENSP00000408596:R19Q;ENSP00000384307:R19Q	ENSP00000272065:R19Q	R	+	2	0	ACP1	261878	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	8.323000	0.90002	2.797000	0.96272	0.655000	0.94253	CGA		0.448	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3		
ACP1	52	broad.mit.edu	37	2	277042	277042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:277042G>A	ENST00000272065.5	+	5	449	c.356G>A	c.(355-357)aGc>aAc	p.S119N	ACP1_ENST00000272067.6_Missense_Mutation_p.S119N|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	119						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S119N(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CTACTTGGGAGCTATGATCCA	0.313																																					p.S119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	2						.						72.0	74.0	73.0					2																	277042		2203	4300	6503	267042	SO:0001583	missense	52	exon5			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.356G>A	2.37:g.277042G>A	ENSP00000272065:p.Ser119Asn	Somatic		Capture	Illumina HiSeq	Phase_I	267042	NM_007099	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102106	0.37048	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.18016	2.24;2.24	5.59	4.71	0.59529	Phosphotyrosine protein phosphatase I superfamily (3);	0.384687	0.32563	N	0.005931	T	0.15565	0.0375	L	0.39147	1.195	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.12837	0.007;0.008	T	0.02901	-1.1096	10	0.41790	T	0.15	-12.8399	12.033	0.53408	0.0836:0.0:0.9164:0.0	.	119;119	P24666-2;P24666	.;PPAC_HUMAN	N	119	ENSP00000272067:S119N;ENSP00000272065:S119N	ENSP00000272065:S119N	S	+	2	0	ACP1	267042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.967000	0.49216	1.354000	0.45846	0.655000	0.94253	AGC		0.313	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3		
ACP1	52	broad.mit.edu	37	2	277235	277235	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:277235C>T	ENST00000272065.5	+	6	501	c.408C>T	c.(406-408)gaC>gaT	p.D136D	ACP1_ENST00000272067.6_Silent_p.D136D|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	136						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.D136D(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	AGGGGAATGACTCTGACTTTG	0.478																																					p.D136D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	2						.						152.0	148.0	149.0					2																	277235		2203	4300	6503	267235	SO:0001819	synonymous_variant	52	exon6			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.408C>T	2.37:g.277235C>T		Somatic		Capture	Illumina HiSeq	Phase_I	267235	NM_007099	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP	ENST00000272065.5	37	CCDS1639.1																																																																																				0.478	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3		
TSSC1	7260	broad.mit.edu	37	2	3261114	3261114	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:3261114C>T	ENST00000382125.4	-	4	564	c.372G>A	c.(370-372)gaG>gaA	p.E124E	TSSC1_ENST00000398659.4_Silent_p.E151E|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Silent_p.E124E	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	124								p.E124E(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GACAGAGCAGCTCCAGGGTCT	0.557																																					p.E124E	Colon(140;1261 1762 4183 34270 49743)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	2						.						110.0	96.0	101.0					2																	3261114		2203	4300	6503	3240121	SO:0001819	synonymous_variant	7260	exon4			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.372G>A	2.37:g.3261114C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3240121	NM_003310	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																				0.557	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
TRAPPC12	51112	broad.mit.edu	37	2	3405664	3405664	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:3405664C>T	ENST00000324266.5	+	3	1359	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	TRAPPC12_ENST00000382110.2_Splice_Site_p.I388I	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	388					vesicle-mediated transport (GO:0016192)			p.I388I(1)									AACAGCTAATCGTAAGTGACA	0.363																																					p.I388I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164T	2						.						244.0	239.0	241.0					2																	3405664		2203	4300	6503	3384671	SO:0001630	splice_region_variant	51112	exon3			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1164+1C>T	2.37:g.3405664C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3384671	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	5.439	0.266121	0.10294	.	.	ENSG00000171853	ENST00000441983	.	.	.	5.14	-2.43	0.06522	.	.	.	.	.	T	0.55273	0.1910	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	10.416	0.44322	0.0:0.4434:0.0:0.5566	.	.	.	.	L	68	.	.	S	+	2	0	TTC15	3384671	0.996000	0.38824	0.824000	0.32777	0.442000	0.32017	0.247000	0.18179	-0.604000	0.05760	-0.345000	0.07892	TCA		0.363	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	Silent
TRAPPC12	51112	broad.mit.edu	37	2	3428392	3428392	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:3428392C>A	ENST00000324266.5	+	5	1570	c.1375C>A	c.(1375-1377)Ctt>Att	p.L459I	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L459I|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	459					vesicle-mediated transport (GO:0016192)			p.L459I(1)									TCAGCCAGATCTTTATTACGA	0.463																																					p.L459I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375A	2						.						206.0	204.0	205.0					2																	3428392		2203	4300	6503	3407399	SO:0001583	missense	51112	exon5			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1375C>A	2.37:g.3428392C>A	ENSP00000324318:p.Leu459Ile	Somatic		Capture	Illumina HiSeq	Phase_I	3407399	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058268	0.76074	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.53423	0.62;0.62	5.73	4.85	0.62838	.	0.131007	0.52532	D	0.000067	T	0.69611	0.3130	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65010	0.915;0.931	T	0.75190	-0.3405	10	0.59425	D	0.04	.	15.9684	0.79991	0.0:0.8652:0.1348:0.0	.	442;459	E7ENL7;Q8WVT3	.;TPC12_HUMAN	I	459;442;459	ENSP00000371544:L459I;ENSP00000324318:L459I	ENSP00000303612:L442I	L	+	1	0	TTC15	3407399	1.000000	0.71417	0.116000	0.21606	0.725000	0.41563	7.395000	0.79876	1.415000	0.47037	0.655000	0.94253	CTT		0.463	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
KIDINS220	57498	broad.mit.edu	37	2	8871940	8871940	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:8871940C>A	ENST00000256707.3	-	30	4407	c.4226G>T	c.(4225-4227)aGa>aTa	p.R1409I	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1390I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1310I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1390I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1409					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R1409I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGAGAAGATCTGCCACTAAT	0.468																																					p.R1409I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4226T	2						.						127.0	123.0	124.0					2																	8871940		1847	4100	5947	8789391	SO:0001583	missense	57498	exon30			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4226G>T	2.37:g.8871940C>A	ENSP00000256707:p.Arg1409Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8789391	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278166	0.80692	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.68624	-0.34;-0.32;-0.32;-0.32	5.87	5.87	0.94306	.	0.202881	0.49305	D	0.000143	T	0.75004	0.3791	L	0.27053	0.805	0.50039	D	0.999845	P;P;D	0.89917	0.951;0.919;1.0	P;P;D	0.91635	0.786;0.616;0.999	T	0.76386	-0.2978	10	0.62326	D	0.03	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	1310;1409;263	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1409;1390;1310;1390	ENSP00000256707:R1409I;ENSP00000411849:R1390I;ENSP00000414923:R1310I;ENSP00000418974:R1390I	ENSP00000256707:R1409I	R	-	2	0	KIDINS220	8789391	0.985000	0.35326	0.962000	0.40283	0.822000	0.46500	2.568000	0.45965	2.785000	0.95823	0.655000	0.94253	AGA		0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
MBOAT2	129642	broad.mit.edu	37	2	8998878	8998878	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:8998878A>C	ENST00000305997.3	-	13	1692	c.1494T>G	c.(1492-1494)ttT>ttG	p.F498L	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	498					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.F498L(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGTTGTAGAAAAACTGTTCT	0.353																																					p.F498L	Ovarian(194;1699 3813 22401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1494G	2						.						90.0	95.0	93.0					2																	8998878		2203	4299	6502	8916329	SO:0001583	missense	129642	exon13			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1494T>G	2.37:g.8998878A>C	ENSP00000302177:p.Phe498Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8916329	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426343	0.25726	.	.	ENSG00000143797	ENST00000305997	T	0.09350	2.99	5.83	2.09	0.27110	.	3.101870	0.00616	N	0.000434	T	0.09686	0.0238	N	0.25647	0.755	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.41378	-0.9512	10	0.11182	T	0.66	-9.6399	10.5635	0.45159	0.862:0.0:0.138:0.0	.	498	Q6ZWT7	MBOA2_HUMAN	L	498	ENSP00000302177:F498L	ENSP00000302177:F498L	F	-	3	2	MBOAT2	8916329	0.998000	0.40836	0.034000	0.17996	0.920000	0.55202	1.561000	0.36342	0.124000	0.18369	0.533000	0.62120	TTT		0.353	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
MBOAT2	129642	broad.mit.edu	37	2	9013426	9013426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:9013426G>A	ENST00000305997.3	-	8	893	c.695C>T	c.(694-696)gCg>gTg	p.A232V	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	232					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.A232V(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAACAACCGCAGTCTGAAA	0.388																																					p.A232V	Ovarian(194;1699 3813 22401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	2						.						79.0	77.0	77.0					2																	9013426		2203	4300	6503	8930877	SO:0001583	missense	129642	exon8			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.695C>T	2.37:g.9013426G>A	ENSP00000302177:p.Ala232Val	Somatic		Capture	Illumina HiSeq	Phase_I	8930877	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850538	0.51270	.	.	ENSG00000143797	ENST00000305997	T	0.72725	-0.68	5.22	5.22	0.72569	.	0.573018	0.18628	N	0.135667	T	0.69033	0.3066	L	0.52823	1.66	0.54753	D	0.999982	P;P	0.52692	0.846;0.955	P;B	0.45195	0.473;0.393	T	0.66168	-0.5991	10	0.10636	T	0.68	-19.835	18.7798	0.91926	0.0:0.0:1.0:0.0	.	232;232	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	V	232	ENSP00000302177:A232V	ENSP00000302177:A232V	A	-	2	0	MBOAT2	8930877	1.000000	0.71417	0.048000	0.18961	0.043000	0.13939	3.838000	0.55828	2.418000	0.82041	0.460000	0.39030	GCG		0.388	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
ASAP2	8853	broad.mit.edu	37	2	9496399	9496399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:9496399G>T	ENST00000281419.3	+	14	1592	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.E418*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	418					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.E418*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CATCGTCCAAGAACTGACAAA	0.483																																					p.E418X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1252T	2						.						87.0	83.0	84.0					2																	9496399		2203	4300	6503	9413850	SO:0001587	stop_gained	8853	exon14			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1252G>T	2.37:g.9496399G>T	ENSP00000281419:p.Glu418*	Somatic		Capture	Illumina HiSeq	Phase_I	9413850	NM_001135191	D6W4Y8	Nonsense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	40	8.345437	0.98769	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	.	.	.	X	418	.	ENSP00000281419:E418X	E	+	1	0	ASAP2	9413850	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.199000	0.95003	2.723000	0.93209	0.655000	0.94253	GAA		0.483	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
IAH1	285148	broad.mit.edu	37	2	9618471	9618471	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:9618471C>A	ENST00000497473.1	+	3	292	c.255C>A	c.(253-255)ttC>ttA	p.F85L	IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000482918.1_5'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	85					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)	p.F85L(1)		breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTACAATTTTCTTTGGGGCCA	0.358																																					p.F85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C255A	2						.						131.0	122.0	125.0					2																	9618471		1834	4093	5927	9535922	SO:0001583	missense	285148	exon3			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.255C>A	2.37:g.9618471C>A	ENSP00000417580:p.Phe85Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9535922	NM_001039613	B4DMV3	Missense_Mutation	SNP	ENST00000497473.1	37	CCDS42651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308682|4.308682	0.81247|0.81247	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000497473;ENST00000481688|ENST00000481367	T;T|.	0.14266|.	2.52;2.52|.	6.07|6.07	5.2|5.2	0.72013|0.72013	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68677|0.68677	0.3027|0.3027	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.57571|.	0.98|.	P|.	0.59761|.	0.863|.	T|T	0.66901|0.66901	-0.5806|-0.5806	10|5	0.59425|.	D|.	0.04|.	-37.7047|-37.7047	15.381|15.381	0.74654|0.74654	0.0:0.9336:0.0:0.0664|0.0:0.9336:0.0:0.0664	.|.	85|.	Q2TAA2|.	IAH1_HUMAN|.	L|Y	85;60|65	ENSP00000417580:F85L;ENSP00000420532:F60L|.	ENSP00000420532:F60L|.	F|S	+|+	3|2	2|0	IAH1|IAH1	9535922|9535922	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.937000|0.937000	0.57800|0.57800	4.307000|4.307000	0.59123|0.59123	1.583000|1.583000	0.49898|0.49898	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.358	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613	
ADAM17	6868	broad.mit.edu	37	2	9642335	9642335	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:9642335T>C	ENST00000310823.3	-	13	1797	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	539	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.N539D(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CAAGTAGCATTAATCGCCTCC	0.478																																					p.N539D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1615G	2						.						258.0	239.0	245.0					2																	9642335		2203	4300	6503	9559786	SO:0001583	missense	6868	exon13			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1615A>G	2.37:g.9642335T>C	ENSP00000309968:p.Asn539Asp	Somatic		Capture	Illumina HiSeq	Phase_I	9559786	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510878	0.44660	.	.	ENSG00000151694	ENST00000310823	T	0.10960	2.82	5.16	5.16	0.70880	Blood coagulation inhibitor, Disintegrin (5);	0.180442	0.64402	D	0.000014	T	0.08980	0.0222	L	0.33293	1	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.10474	-1.0628	10	0.07990	T	0.79	.	14.9916	0.71393	0.0:0.0:0.0:1.0	.	539;539	B2RNB2;P78536	.;ADA17_HUMAN	D	539	ENSP00000309968:N539D	ENSP00000309968:N539D	N	-	1	0	ADAM17	9559786	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.221000	0.51215	1.929000	0.55896	0.379000	0.24179	AAT		0.478	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
YWHAQ	10971	broad.mit.edu	37	2	9731620	9731620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:9731620C>A	ENST00000381844.4	-	2	482	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.A107S			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	107					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)	p.A107S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GTTGCATTGGCTATTAAATAT	0.363																																					p.A107S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319T	2						.						83.0	81.0	82.0					2																	9731620		2203	4300	6503	9649071	SO:0001583	missense	10971	exon3			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.319G>T	2.37:g.9731620C>A	ENSP00000371267:p.Ala107Ser	Somatic		Capture	Illumina HiSeq	Phase_I	9649071	NM_006826	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890478	0.52014	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T;T	0.40756	1.02;1.02;1.02	5.33	5.33	0.75918	14-3-3 domain (4);	0.083723	0.49916	D	0.000139	T	0.27933	0.0688	N	0.13043	0.29	0.42035	D	0.991046	B	0.06786	0.001	B	0.09377	0.004	T	0.08027	-1.0742	10	0.66056	D	0.02	.	12.7015	0.57035	0.0:0.9241:0.0:0.0758	.	107	P27348	1433T_HUMAN	S	107;107;72;107	ENSP00000238081:A107S;ENSP00000371267:A107S;ENSP00000398990:A107S	ENSP00000238081:A107S	A	-	1	0	YWHAQ	9649071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.503000	0.35715	2.649000	0.89929	0.585000	0.79938	GCC		0.363	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	
TRIB2	28951	broad.mit.edu	37	2	12864802	12864802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:12864802C>T	ENST00000405331.3	+	3	681	c.611C>T	c.(610-612)tCg>tTg	p.S204L	TRIB2_ENST00000155926.4_Intron|TRIB2_ENST00000381465.2_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTGCCTTCGATACCCTCT	0.498																																					.												.	.	0			.	2						.						723.0	658.0	678.0					2																	12864802		876	1991	2867	12782253	SO:0001583	missense	28951	.			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.611C>T	2.37:g.12864802C>T	ENSP00000384260:p.Ser204Leu	Somatic		Capture	Illumina HiSeq	Phase_I	12782253	.		Intron	SNP	ENST00000405331.3	37		.	.	.	.	.	.	.	.	.	.	T	7.366	0.625895	0.14257	.	.	ENSG00000071575	ENST00000405331	T	0.06849	3.25	3.27	-1.87	0.07737	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27191	-1.0081	6	0.87932	D	0	.	9.2064	0.37291	0.0:0.5764:0.0:0.4236	.	.	.	.	L	204	ENSP00000384260:S204L	ENSP00000384260:S204L	S	+	2	0	TRIB2	12782253	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.188000	0.09642	-0.738000	0.04817	-0.490000	0.04691	TCG		0.498	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643	
DDX1	1653	broad.mit.edu	37	2	15769832	15769832	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:15769832G>A	ENST00000381341.2	+	25	2360				DDX1_ENST00000233084.3_Intron			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTAAGACTTCGAGTTAGGCTC	0.363																																					.												.	.	0			.	2						.						84.0	71.0	75.0					2																	15769832		2203	4300	6503	15687283	SO:0001627	intron_variant	1653	.			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1971+11G>A	2.37:g.15769832G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15687283	.	B4DME8|B4DPN6	Intron	SNP	ENST00000381341.2	37	CCDS1686.1																																																																																				0.363	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
FAM49A	81553	broad.mit.edu	37	2	16742348	16742348	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:16742348G>A	ENST00000381323.3	-	9	851				FAM49A_ENST00000355549.2_Intron|FAM49A_ENST00000406434.1_Intron	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTAAATGGGAGACACAAATGT	0.418																																					.												.	.	0			.	2						.						221.0	206.0	211.0					2																	16742348		2203	4300	6503	16605829	SO:0001627	intron_variant	81553	.			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.631-11C>T	2.37:g.16742348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16605829	.	B3KNZ1|Q53QW2	Intron	SNP	ENST00000381323.3	37	CCDS1688.1																																																																																				0.418	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797	
APOB	338	broad.mit.edu	37	2	21239305	21239305	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:21239305C>A	ENST00000233242.1	-	21	3460					NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.?(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGGCCTTCTTTACCTTAG	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						61.0	61.0	61.0					2																	21239305		2203	4300	6503	21092810	SO:0001627	intron_variant	338	.			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3332+5G>T	2.37:g.21239305C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21092810	.	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Intron	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ITSN2	50618	broad.mit.edu	37	2	24533544	24533544	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:24533544T>C	ENST00000355123.4	-	6	813	c.370A>G	c.(370-372)Aat>Gat	p.N124D	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Missense_Mutation_p.N124D|ITSN2_ENST00000361999.3_Missense_Mutation_p.N124D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	124					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.N123D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGACAGATTGGGCATGCTT	0.423																																					p.N124D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A370G	2						.						113.0	98.0	103.0					2																	24533544		2203	4300	6503	24387048	SO:0001583	missense	50618	exon6			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.370A>G	2.37:g.24533544T>C	ENSP00000347244:p.Asn124Asp	Somatic		Capture	Illumina HiSeq	Phase_I	24387048	NM_147152	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030498	0.75504	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.60548	0.18;0.2;0.18;0.63;0.91;1.52	5.27	5.27	0.74061	.	0.000000	0.39407	U	0.001371	T	0.70343	0.3213	L	0.49350	1.555	0.48288	D	0.999622	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;P	0.85130	0.997;0.997;0.997;0.908	T	0.69041	-0.5250	10	0.37606	T	0.19	.	15.5048	0.75728	0.0:0.0:0.0:1.0	.	124;124;124;124	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	D	124;124;124;123;124;124;110	ENSP00000354561:N124D;ENSP00000347244:N124D;ENSP00000370250:N124D;ENSP00000384499:N124D;ENSP00000391224:N124D;ENSP00000391715:N110D	ENSP00000347244:N124D	N	-	1	0	ITSN2	24387048	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.599000	0.74127	2.129000	0.65627	0.383000	0.25322	AAT		0.423	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
NCOA1	8648	broad.mit.edu	37	2	24930100	24930100	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:24930100G>T	ENST00000406961.1	+	13	2413	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	NCOA1_ENST00000405141.1_Missense_Mutation_p.E587D|NCOA1_ENST00000407230.1_Missense_Mutation_p.E436D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E587D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E587D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E587D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E587D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	587	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.E587D(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAACAAAGAGATTGCCTCAA	0.413			T	PAX3	alveolar rhadomyosarcoma																																p.E587D			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1761T	2						.						47.0	48.0	48.0					2																	24930100		2203	4300	6503	24783604	SO:0001583	missense	8648	exon11			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1761G>T	2.37:g.24930100G>T	ENSP00000385216:p.Glu587Asp	Somatic		Capture	Illumina HiSeq	Phase_I	24783604	NM_003743	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522529	0.27211	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01933	4.65;4.65;4.55;4.65;4.65;4.65;4.65	5.95	4.9	0.64082	.	0.128303	0.53938	D	0.000049	T	0.03608	0.0103	N	0.08118	0	0.40445	D	0.98008	D;D;D;D	0.67145	0.99;0.991;0.996;0.958	D;P;D;P	0.76071	0.98;0.82;0.987;0.622	T	0.65010	-0.6272	10	0.08837	T	0.75	.	13.9932	0.64380	0.0828:0.0:0.9172:0.0	.	587;587;587;436	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	587;587;436;587;587;587;587	ENSP00000385216:E587D;ENSP00000385097:E587D;ENSP00000385195:E436D;ENSP00000444039:E587D;ENSP00000320940:E587D;ENSP00000288599:E587D;ENSP00000379197:E587D	ENSP00000288599:E587D	E	+	3	2	NCOA1	24783604	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.624000	0.37018	2.824000	0.97209	0.655000	0.94253	GAG		0.413	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
DNAJC27	51277	broad.mit.edu	37	2	25190147	25190147	+	Nonsense_Mutation	SNP	G	G	A	rs147784881		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:25190147G>A	ENST00000264711.2	-	2	292	c.103C>T	c.(103-105)Cga>Tga	p.R35*	DNAJC27_ENST00000534855.1_5'UTR|SNORD14_ENST00000365609.1_RNA|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	35					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.R35*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCACAGTATCGCTTTATAATA	0.323																																					p.R35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C103T	2						.	G	stop/ARG,stop/ARG	1,4401	2.1+/-5.4	0,1,2200	72.0	77.0	75.0		103,103	5.8	1.0	2	dbSNP_134	75	0,8600		0,0,4300	no	stop-gained,stop-gained	DNAJC27	NM_001198559.1,NM_016544.2	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	35/178,35/274	25190147	1,13001	2201	4300	6501	25043651	SO:0001587	stop_gained	51277	exon2				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.103C>T	2.37:g.25190147G>A	ENSP00000264711:p.Arg35*	Somatic		Capture	Illumina HiSeq	Phase_I	25043651	NM_001198559	Q5JV88|Q86Y24	Nonsense_Mutation	SNP	ENST00000264711.2	37	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709763	0.97780	2.27E-4	0.0	ENSG00000115137	ENST00000264711	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8466	17.0799	0.86596	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000264711:R35X	R	-	1	2	DNAJC27	25043651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.022000	0.64078	2.885000	0.99019	0.655000	0.94253	CGA		0.323	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544	
KIF3C	3797	broad.mit.edu	37	2	26203929	26203929	+	Silent	SNP	C	C	T	rs111483081		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26203929C>T	ENST00000264712.3	-	1	1437	c.858G>A	c.(856-858)agG>agA	p.R286R	KIF3C_ENST00000405914.1_Silent_p.R286R	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	286	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R286R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTTAGGCCTCTCTccac	0.627																																					p.R286R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G858A	2						.						45.0	42.0	43.0					2																	26203929		2202	4300	6502	26057433	SO:0001819	synonymous_variant	3797	exon1				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.858G>A	2.37:g.26203929C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26057433	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	CCDS1719.1																																																																																				0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		
HADHA	3030	broad.mit.edu	37	2	26420587	26420587	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26420587G>A	ENST00000380649.3	-	14	1581	c.1452C>T	c.(1450-1452)atC>atT	p.I484I		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	484					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.I484I(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGCAGCGATTTCACTGA	0.438																																					p.I484I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1452T	2						.						123.0	119.0	121.0					2																	26420587		2203	4300	6503	26274091	SO:0001819	synonymous_variant	3030	exon14			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1452C>T	2.37:g.26420587G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26274091	NM_000182	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	CCDS1721.1																																																																																				0.438	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
HADHA	3030	broad.mit.edu	37	2	26437359	26437359	+	Nonsense_Mutation	SNP	G	G	A	rs137852775		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26437359G>A	ENST00000380649.3	-	9	1000	c.871C>T	c.(871-873)Cga>Tga	p.R291*	HADHA_ENST00000457468.2_Nonsense_Mutation_p.R204*	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	291					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.R291*(1)|p.R204*(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTGCTTTCGCACTTTTTCT	0.343																																					p.R291X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C871T	2	GRCh37	CM983469	HADHA	M	rs137852775	.						167.0	156.0	160.0					2																	26437359		2203	4300	6503	26290863	SO:0001587	stop_gained	3030	exon9			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.871C>T	2.37:g.26437359G>A	ENSP00000370023:p.Arg291*	Somatic		Capture	Illumina HiSeq	Phase_I	26290863	NM_000182	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Nonsense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	38	6.737054	0.97801	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	.	.	.	5.43	3.44	0.39384	.	0.650377	0.16205	N	0.224737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-28.8123	10.9921	0.47555	0.0:0.0:0.5211:0.4789	.	.	.	.	X	291;204	.	ENSP00000370023:R291X	R	-	1	2	HADHA	26290863	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	4.044000	0.57361	1.362000	0.46000	0.650000	0.86243	CGA		0.343	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
HADHB	3032	broad.mit.edu	37	2	26492811	26492811	+	Intron	SNP	C	C	T	rs201248466		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26492811C>T	ENST00000317799.5	+	5	313				HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_Intron|HADHB_ENST00000545822.1_Intron|HADHB_ENST00000537713.1_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGGTTTTCGTTCCCCAGA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18151	0.0		0.001	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						112.0	108.0	109.0					2																	26492811		2203	4300	6503	26346315	SO:0001627	intron_variant	3032	.				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.210-10C>T	2.37:g.26492811C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26346315	.	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Intron	SNP	ENST00000317799.5	37	CCDS1722.1																																																																																				0.368	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	
HADHB	3032	broad.mit.edu	37	2	26502190	26502190	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26502190T>C	ENST00000317799.5	+	9	915				HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_Intron|HADHB_ENST00000545822.1_Intron|HADHB_ENST00000537713.1_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGTGAAATGAAATGCTTC	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						69.0	66.0	67.0					2																	26502190		2203	4300	6503	26355694	SO:0001627	intron_variant	3032	.				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.811+7T>C	2.37:g.26502190T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26355694	.	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Intron	SNP	ENST00000317799.5	37	CCDS1722.1																																																																																				0.418	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	
HADHB	3032	broad.mit.edu	37	2	26505909	26505909	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26505909C>A	ENST00000317799.5	+	12	1155	c.1051C>A	c.(1051-1053)Cta>Ata	p.L351I	HADHB_ENST00000405867.3_Missense_Mutation_p.L228I|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.L329I|HADHB_ENST00000537713.1_Missense_Mutation_p.L336I	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	351					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.L351I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAAGATCAACTATTACTTGG	0.313																																					p.L351I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1051A	2						.						157.0	161.0	159.0					2																	26505909		2203	4300	6503	26359413	SO:0001583	missense	3032	exon12				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.1051C>A	2.37:g.26505909C>A	ENSP00000325136:p.Leu351Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26359413	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616518	0.66672	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.95	5.95	0.96441	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.056250	0.64402	D	0.000001	D	0.97102	0.9053	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.76494	0.996;0.994;0.999;0.997	D;D;D;D	0.80764	0.933;0.96;0.994;0.96	D	0.97234	0.9886	10	0.87932	D	0	-19.4079	18.9662	0.92697	0.0:1.0:0.0:0.0	.	336;329;228;351	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	I	351;228;336;329	ENSP00000325136:L351I;ENSP00000385411:L228I;ENSP00000444295:L336I;ENSP00000442665:L329I	ENSP00000325136:L351I	L	+	1	2	HADHB	26359413	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	7.391000	0.79828	2.827000	0.97445	0.650000	0.86243	CTA		0.313	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	
OTOF	9381	broad.mit.edu	37	2	26706379	26706379	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26706379T>C	ENST00000272371.2	-	13	1469	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	OTOF_ENST00000403946.3_Missense_Mutation_p.N448S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	448	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.N448S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGTCCTTGTTTTCACCGAT	0.537																																					p.N448S	GBM(102;732 1451 20652 24062 31372)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1343G	2						.						93.0	82.0	86.0					2																	26706379		2203	4300	6503	26559883	SO:0001583	missense	9381	exon13			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1343A>G	2.37:g.26706379T>C	ENSP00000272371:p.Asn448Ser	Somatic		Capture	Illumina HiSeq	Phase_I	26559883	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575862	0.45902	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.67865	-0.29;-0.29	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	N	0.05306	-0.075	0.58432	D	0.999997	P	0.52463	0.953	P	0.51516	0.672	T	0.52019	-0.8631	10	0.12103	T	0.63	-41.9107	14.4378	0.67293	0.0:0.0:0.0:1.0	.	448	Q9HC10	OTOF_HUMAN	S	448	ENSP00000272371:N448S;ENSP00000385255:N448S	ENSP00000272371:N448S	N	-	2	0	OTOF	26559883	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.219000	0.58561	1.896000	0.54893	0.523000	0.50628	AAC		0.537	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
C2orf70	339778	broad.mit.edu	37	2	26802307	26802307	+	3'UTR	SNP	G	G	T	rs375031504		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:26802307G>T	ENST00000329615.3	+	0	638				C2orf70_ENST00000409392.1_3'UTR|CIB4_ENST00000405346.3_5'Flank	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70							nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CAGAGCATGAGACTTTTAGTT	0.512																																					.												.	.	0			.	2						.						99.0	100.0	100.0					2																	26802307		1928	4146	6074	26655811	SO:0001624	3_prime_UTR_variant	339778	.				CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.*1G>T	2.37:g.26802307G>T		Somatic		Capture	Illumina HiSeq	Phase_I	26655811	.		3'UTR	SNP	ENST00000329615.3	37	CCDS42661.1																																																																																				0.512	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519	
CENPA	1058	broad.mit.edu	37	2	27015630	27015630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27015630G>T	ENST00000335756.4	+	3	417	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	CENPA_ENST00000475662.1_Intron|CENPA_ENST00000233505.8_Intron	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	73	H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E73*(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGCAAGAGAAATATGTGT	0.493																																					p.E73X	Pancreas(28;769 878 30250 30578 41330)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G217T	2						.						83.0	85.0	84.0					2																	27015630		2203	4300	6503	26869134	SO:0001587	stop_gained	1058	exon3			U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.217G>T	2.37:g.27015630G>T	ENSP00000336868:p.Glu73*	Somatic		Capture	Illumina HiSeq	Phase_I	26869134	NM_001809	D6W544|Q53T74|Q9BVW2	Nonsense_Mutation	SNP	ENST00000335756.4	37	CCDS1729.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023166	0.93462	.	.	ENSG00000115163	ENST00000335756	.	.	.	5.44	4.56	0.56223	.	0.053946	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.62	9.9997	0.41920	0.0904:0.0:0.9096:0.0	.	.	.	.	X	73	.	ENSP00000336868:E73X	E	+	1	0	CENPA	26869134	1.000000	0.71417	0.996000	0.52242	0.743000	0.42351	4.887000	0.63156	1.533000	0.49186	0.650000	0.86243	GAA		0.493	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809	
TCF23	150921	broad.mit.edu	37	2	27375670	27375670	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27375670G>T	ENST00000296096.5	+	3	710	c.580G>T	c.(580-582)Gtc>Ttc	p.V194F		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	194					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)		p.V194F(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCCAAGTCCCTGGAGA	0.542																																					p.V194F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580T	2						.						116.0	113.0	114.0					2																	27375670		2203	4300	6503	27229174	SO:0001583	missense	150921	exon3			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.580G>T	2.37:g.27375670G>T	ENSP00000296096:p.Val194Phe	Somatic		Capture	Illumina HiSeq	Phase_I	27229174	NM_175769	B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000767	0.35320	.	.	ENSG00000163792	ENST00000296096	D	0.97811	-4.55	5.02	2.2	0.27929	.	1.167150	0.06272	N	0.695779	D	0.95175	0.8436	L	0.56769	1.78	0.09310	N	1	P	0.35982	0.531	B	0.30782	0.12	D	0.87641	0.2522	10	0.32370	T	0.25	-2.0523	5.3678	0.16123	0.185:0.1662:0.6488:0.0	.	194	Q7RTU1	TCF23_HUMAN	F	194	ENSP00000296096:V194F	ENSP00000296096:V194F	V	+	1	0	TCF23	27229174	0.035000	0.19736	0.000000	0.03702	0.021000	0.10359	1.744000	0.38268	0.237000	0.21200	-0.136000	0.14681	GTC		0.542	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769	
SLC5A6	8884	broad.mit.edu	37	2	27427384	27427384	+	Missense_Mutation	SNP	G	G	A	rs199587675		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27427384G>A	ENST00000310574.3	-	9	1423	c.950C>T	c.(949-951)gCg>gTg	p.A317V	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Missense_Mutation_p.A317V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	317					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.A317V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTGGTAATACGCGAACATGAC	0.597																																					p.A317V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950T	2						.						99.0	95.0	96.0					2																	27427384		2203	4300	6503	27280888	SO:0001583	missense	8884	exon9			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.950C>T	2.37:g.27427384G>A	ENSP00000310208:p.Ala317Val	Somatic		Capture	Illumina HiSeq	Phase_I	27280888	NM_021095	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513536	0.27123	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.88586	-2.4;-2.4	4.93	2.04	0.26737	.	0.604283	0.16756	N	0.200821	D	0.85733	0.5765	M	0.67569	2.06	0.39947	D	0.974481	B	0.33345	0.409	B	0.34242	0.178	T	0.82370	-0.0491	10	0.52906	T	0.07	.	7.2906	0.26364	0.1706:0.1441:0.6852:0.0	.	317	Q9Y289	SC5A6_HUMAN	V	317	ENSP00000310208:A317V;ENSP00000384853:A317V	ENSP00000310208:A317V	A	-	2	0	SLC5A6	27280888	0.999000	0.42202	0.226000	0.23910	0.215000	0.24574	3.539000	0.53604	0.585000	0.29608	0.655000	0.94253	GCG		0.597	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	
ATRAID	51374	broad.mit.edu	37	2	27440801	27440801	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27440801G>A	ENST00000606999.1	+	0	956				CAD_ENST00000264705.4_Missense_Mutation_p.A47T|CAD_ENST00000403525.1_Missense_Mutation_p.A47T	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.A47T(1)									CTCCTACAAGGCACAGATCTT	0.577																																					p.A47T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	2						.						128.0	118.0	122.0					2																	27440801		2203	4300	6503	27294305	SO:0001628	intergenic_variant	790	exon2			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440801G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27294305	NM_004341	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		.	.	.	.	.	.	.	.	.	.	G	18.53	3.643289	0.67244	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.94046	-3.34;-3.34	4.98	4.98	0.66077	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.139548	0.48767	D	0.000167	D	0.90721	0.7088	L	0.41492	1.28	0.32296	N	0.565691	B;B	0.34181	0.08;0.44	B;B	0.35182	0.059;0.197	D	0.93121	0.6525	10	0.87932	D	0	1.5572	16.983	0.86333	0.0:0.0:1.0:0.0	.	47;47	F8VPD4;P27708	.;PYR1_HUMAN	T	47	ENSP00000264705:A47T;ENSP00000384510:A47T	ENSP00000264705:A47T	A	+	1	0	CAD	27294305	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	2.709000	0.47160	2.590000	0.87494	0.430000	0.28490	GCA		0.577	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085	
CAD	790	broad.mit.edu	37	2	27465798	27465798	+	Missense_Mutation	SNP	G	G	A	rs377103397		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27465798G>A	ENST00000403525.1	+	41	6392	c.6248G>A	c.(6247-6249)cGa>cAa	p.R2083Q	CAD_ENST00000264705.4_Missense_Mutation_p.R2146Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R2146Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACATGACTCGAATCCAGAAG	0.567																																					p.R2146Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6437A	2						.						76.0	74.0	75.0					2																	27465798		2203	4300	6503	27319302	SO:0001583	missense	790	exon42			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6248G>A	2.37:g.27465798G>A	ENSP00000384510:p.Arg2083Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27319302	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.560432|5.560432	0.96527|0.96527	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99176	.|-5.52;-5.52	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99651|0.99651	0.9871|0.9871	H|H	0.99299|0.99299	4.505|4.505	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.97250|0.97250	0.9897|0.9897	5|10	.|0.87932	.|D	.|0	-11.0697|-11.0697	16.9574|16.9574	0.86263|0.86263	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2083;2146	.|F8VPD4;P27708	.|.;PYR1_HUMAN	K|Q	214|2146;2083	.|ENSP00000264705:R2146Q;ENSP00000384510:R2083Q	.|ENSP00000264705:R2146Q	E|R	+|+	1|2	0|0	CAD|CAD	27319302|27319302	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.992000|0.992000	0.81027|0.81027	8.938000|8.938000	0.92943|0.92943	2.335000|2.335000	0.79485|0.79485	0.511000|0.511000	0.50034|0.50034	GAA|CGA		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
DNAJC5G	285126	broad.mit.edu	37	2	27499690	27499690	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27499690G>T	ENST00000296097.3	+	3	512	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.D32Y|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.D32Y|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.D32Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	32	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.D32Y(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCTGAAGACTTCAAAAA	0.448																																					p.D32Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	2						.						70.0	72.0	71.0					2																	27499690		2203	4300	6503	27353194	SO:0001583	missense	285126	exon3			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.94G>T	2.37:g.27499690G>T	ENSP00000296097:p.Asp32Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27353194	NM_173650	B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881244	0.51801	.	.	ENSG00000163793	ENST00000296097;ENST00000420191;ENST00000402462;ENST00000404433;ENST00000406962	T;T;T;T;T	0.74632	1.47;1.47;1.47;-0.86;1.47	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	1.150850	0.06594	N	0.752547	D	0.89015	0.6595	M	0.86805	2.84	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.934	T	0.83243	-0.0057	10	0.87932	D	0	.	15.0505	0.71865	0.0:0.0:1.0:0.0	.	32;32	B4DY29;Q8N7S2	.;DNJ5G_HUMAN	Y	32	ENSP00000296097:D32Y;ENSP00000400382:D32Y;ENSP00000384305:D32Y;ENSP00000385829:D32Y;ENSP00000385533:D32Y	ENSP00000296097:D32Y	D	+	1	0	DNAJC5G	27353194	1.000000	0.71417	0.605000	0.28930	0.235000	0.25334	9.305000	0.96197	2.154000	0.67381	0.561000	0.74099	GAC		0.448	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650	
GTF3C2	2976	broad.mit.edu	37	2	27551765	27551765	+	Silent	SNP	A	A	C	rs137918516	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27551765A>C	ENST00000359541.2	-	15	2502	c.2073T>G	c.(2071-2073)gcT>gcG	p.A691A	GTF3C2_ENST00000264720.3_Silent_p.A691A			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	691					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.A691A(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGTAACCAGCGTCAATAT	0.398																																					p.A691A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2073G	2						.						72.0	73.0	73.0					2																	27551765		2203	4300	6503	27405269	SO:0001819	synonymous_variant	2976	exon15			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2073T>G	2.37:g.27551765A>C		Somatic		Capture	Illumina HiSeq	Phase_I	27405269	NM_001035521	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	6.856	0.527167	0.13066	.	.	ENSG00000115207	ENST00000454704;ENST00000415683	.	.	.	5.5	1.83	0.25207	.	.	.	.	.	T	0.51329	0.1668	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39272	-0.9622	4	.	.	.	-12.8372	4.5162	0.11935	0.5021:0.3279:0.17:0.0	.	.	.	.	R	200;93	.	.	L	-	2	0	GTF3C2	27405269	0.993000	0.37304	1.000000	0.80357	0.758000	0.43043	0.256000	0.18351	0.465000	0.27167	0.459000	0.35465	CTG		0.398	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
IFT172	26160	broad.mit.edu	37	2	27668187	27668187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27668187G>A	ENST00000260570.3	-	46	5147	c.5044C>T	c.(5044-5046)Cga>Tga	p.R1682*	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1682					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.R1682*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGCAGGGCTCGAACACCAGTG	0.557																																					p.R1682X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5044T	2						.						26.0	27.0	27.0					2																	27668187		2203	4300	6503	27521691	SO:0001587	stop_gained	26160	exon46			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.5044C>T	2.37:g.27668187G>A	ENSP00000260570:p.Arg1682*	Somatic		Capture	Illumina HiSeq	Phase_I	27521691	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Nonsense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	40	8.064839	0.98635	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.22	4.33	0.51752	.	0.191968	0.45606	D	0.000349	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-5.8231	12.1856	0.54236	0.0:0.0:0.8287:0.1713	.	.	.	.	X	1682	.	ENSP00000260570:R1682X	R	-	1	2	IFT172	27521691	1.000000	0.71417	0.963000	0.40424	0.045000	0.14185	6.188000	0.72045	1.185000	0.42971	-0.314000	0.08810	CGA		0.557	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
IFT172	26160	broad.mit.edu	37	2	27669161	27669161	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27669161T>C	ENST00000260570.3	-	43	4824	c.4721A>G	c.(4720-4722)gAc>gGc	p.D1574G	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1574					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.D1574G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAAGGCTTTGTCTACAGGTAG	0.473																																					p.D1574G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4721G	2						.						92.0	84.0	87.0					2																	27669161		2203	4300	6503	27522665	SO:0001583	missense	26160	exon43			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4721A>G	2.37:g.27669161T>C	ENSP00000260570:p.Asp1574Gly	Somatic		Capture	Illumina HiSeq	Phase_I	27522665	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428223	0.83667	.	.	ENSG00000138002	ENST00000260570	T	0.72167	-0.63	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87584	0.2486	10	0.87932	D	0	-20.7145	12.422	0.55525	0.0:0.0:0.0:1.0	.	1574	Q9UG01	IF172_HUMAN	G	1574	ENSP00000260570:D1574G	ENSP00000260570:D1574G	D	-	2	0	IFT172	27522665	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.122000	0.77169	1.974000	0.57490	0.459000	0.35465	GAC		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
GCKR	2646	broad.mit.edu	37	2	27728610	27728610	+	Missense_Mutation	SNP	G	G	A	rs146168012	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27728610G>A	ENST00000264717.2	+	10	839	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	GCKR_ENST00000424318.2_Missense_Mutation_p.R69Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	259	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.R259Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GGCTCCTCCCGGATGAAAGGT	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17896	0.0		0.0	False		,,,				2504	0.0				p.R259Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	2						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	76.0	71.0	73.0		776	-0.0	0.8	2	dbSNP_134	73	0,8600		0,0,4300	no	missense	GCKR	NM_001486.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	259/626	27728610	2,13004	2203	4300	6503	27582114	SO:0001583	missense	2646	exon10			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.776G>A	2.37:g.27728610G>A	ENSP00000264717:p.Arg259Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27582114	NM_001486	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009665	0.75046	4.54E-4	0.0	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.65549	-0.16;-0.16	3.88	-0.0335	0.13901	Glucokinase regulatory, conserved site (1);Sugar isomerase (SIS) (1);	0.073994	0.51477	D	0.000098	T	0.79776	0.4504	M	0.92738	3.34	0.24976	N	0.991634	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.994;0.997	T	0.70528	-0.4847	10	0.87932	D	0	-0.8747	8.6433	0.33989	0.308:0.0:0.692:0.0	.	69;259;259	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	Q	259;69	ENSP00000264717:R259Q;ENSP00000409109:R69Q	ENSP00000264717:R259Q	R	+	2	0	GCKR	27582114	0.984000	0.35163	0.816000	0.32577	0.935000	0.57460	2.106000	0.41835	-0.128000	0.11641	0.655000	0.94253	CGG		0.547	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486	
GCKR	2646	broad.mit.edu	37	2	27746148	27746148	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27746148G>A	ENST00000264717.2	+	19	1783	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	GCKR_ENST00000424318.2_Missense_Mutation_p.A384T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	574					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.A574T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GATACCCATCGCCTTGCTGAG	0.602																																					p.A574T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1720A	2						.						58.0	49.0	52.0					2																	27746148		2203	4300	6503	27599652	SO:0001583	missense	2646	exon19			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1720G>A	2.37:g.27746148G>A	ENSP00000264717:p.Ala574Thr	Somatic		Capture	Illumina HiSeq	Phase_I	27599652	NM_001486	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750860	0.49257	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.39997	1.27;1.05	4.09	4.09	0.47781	.	0.000000	0.64402	U	0.000006	T	0.65059	0.2655	M	0.83603	2.65	0.39170	D	0.962572	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72450	-0.4290	10	0.87932	D	0	-10.861	11.9942	0.53191	0.0:0.0:1.0:0.0	.	384;572;574	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	T	574;384	ENSP00000264717:A574T;ENSP00000409109:A384T	ENSP00000264717:A574T	A	+	1	0	GCKR	27599652	0.815000	0.29118	0.918000	0.36340	0.099000	0.18886	3.682000	0.54656	2.236000	0.73375	0.563000	0.77884	GCC		0.602	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486	
C2orf16	84226	broad.mit.edu	37	2	27800430	27800430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27800430G>A	ENST00000408964.2	+	1	1042	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	331						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E331K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAAGGGGAAGAATCTGTGGT	0.463																																					p.E331K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	2						.						127.0	124.0	125.0					2																	27800430		1912	4132	6044	27653934	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.991G>A	2.37:g.27800430G>A	ENSP00000386190:p.Glu331Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27653934	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532686	0.64972	.	.	ENSG00000221843	ENST00000408964	T	0.09073	3.02	4.39	-0.661	0.11417	.	.	.	.	.	T	0.05044	0.0135	L	0.27053	0.805	0.09310	N	1	B	0.23891	0.093	B	0.16289	0.015	T	0.39820	-0.9595	9	0.38643	T	0.18	.	4.0248	0.09682	0.4347:0.1924:0.3729:0.0	.	331	Q68DN1	CB016_HUMAN	K	331	ENSP00000386190:E331K	ENSP00000386190:E331K	E	+	1	0	C2orf16	27653934	0.034000	0.19679	0.008000	0.14137	0.971000	0.66376	0.325000	0.19628	-0.032000	0.13758	0.563000	0.77884	GAA		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27801363	27801363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27801363G>T	ENST00000408964.2	+	1	1975	c.1924G>T	c.(1924-1926)Gaa>Taa	p.E642*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	642						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E642*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATCTTCAAGAACTGATAGT	0.408																																					p.E642X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1924T	2						.						94.0	90.0	91.0					2																	27801363		1871	4118	5989	27654867	SO:0001587	stop_gained	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1924G>T	2.37:g.27801363G>T	ENSP00000386190:p.Glu642*	Somatic		Capture	Illumina HiSeq	Phase_I	27654867	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Nonsense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111826	0.77210	.	.	ENSG00000221843	ENST00000408964	.	.	.	4.69	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.4869	0.22093	0.2147:0.0:0.7853:0.0	.	.	.	.	X	642	.	ENSP00000386190:E642X	E	+	1	0	C2orf16	27654867	0.463000	0.25799	0.951000	0.38953	0.286000	0.27126	0.905000	0.28504	1.310000	0.45006	0.561000	0.74099	GAA		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27801557	27801557	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27801557A>G	ENST00000408964.2	+	1	2169	c.2118A>G	c.(2116-2118)ggA>ggG	p.G706G		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	706						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.G706G(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGAATCTAGGACACGTGTGTC	0.403																																					p.G706G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2118G	2						.						75.0	70.0	71.0					2																	27801557		1869	4109	5978	27655061	SO:0001819	synonymous_variant	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2118A>G	2.37:g.27801557A>G		Somatic		Capture	Illumina HiSeq	Phase_I	27655061	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27804562	27804562	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27804562G>T	ENST00000408964.2	+	1	5174	c.5123G>T	c.(5122-5124)aGa>aTa	p.R1708I	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1708	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R1708I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGAGAGAAGACATCAC	0.582																																					p.R1708I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5123T	2						.						164.0	165.0	165.0					2																	27804562		1917	4132	6049	27658066	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5123G>T	2.37:g.27804562G>T	ENSP00000386190:p.Arg1708Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27658066	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671944	0.29693	.	.	ENSG00000221843	ENST00000408964	T	0.05996	3.36	3.34	2.46	0.29980	.	.	.	.	.	T	0.14485	0.0350	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	P	0.62491	0.903	T	0.09552	-1.0669	9	0.72032	D	0.01	.	5.3638	0.16103	0.2584:0.0:0.7416:0.0	.	1708	Q68DN1	CB016_HUMAN	I	1708	ENSP00000386190:R1708I	ENSP00000386190:R1708I	R	+	2	0	C2orf16	27658066	0.005000	0.15991	0.012000	0.15200	0.006000	0.05464	0.653000	0.24902	0.964000	0.38108	0.462000	0.41574	AGA		0.582	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27804854	27804854	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27804854A>G	ENST00000408964.2	+	1	5466	c.5415A>G	c.(5413-5415)agA>agG	p.R1805R	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1805	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R1805R(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGAAGACGTCACAGTC	0.547																																					p.R1805R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5415G	2						.						121.0	126.0	124.0					2																	27804854		1927	4125	6052	27658358	SO:0001819	synonymous_variant	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5415A>G	2.37:g.27804854A>G		Somatic		Capture	Illumina HiSeq	Phase_I	27658358	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.547	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
SLC4A1AP	22950	broad.mit.edu	37	2	27892242	27892242	+	Missense_Mutation	SNP	C	C	T	rs576630849		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27892242C>T	ENST00000326019.6	+	5	1615	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	445						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R445W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGGATTGCTTCGGCAGGAAGC	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16411	0.0		0.0	False		,,,				2504	0.0				p.R445W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	2						.						142.0	145.0	144.0					2																	27892242		2203	4300	6503	27745746	SO:0001583	missense	22950	exon5				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1333C>T	2.37:g.27892242C>T	ENSP00000323837:p.Arg445Trp	Somatic		Capture	Illumina HiSeq	Phase_I	27745746	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221219	0.79464	.	.	ENSG00000163798	ENST00000326019	T	0.46451	0.87	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70051	-0.4978	10	0.72032	D	0.01	-14.8943	15.7423	0.77910	0.1446:0.8554:0.0:0.0	.	445	Q9BWU0	NADAP_HUMAN	W	445	ENSP00000323837:R445W	ENSP00000323837:R445W	R	+	1	2	SLC4A1AP	27745746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.908000	0.48750	2.747000	0.94245	0.650000	0.86243	CGG		0.408	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
SLC4A1AP	22950	broad.mit.edu	37	2	27898421	27898421	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:27898421G>T	ENST00000326019.6	+	6	1650	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	456						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K456N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGAAAGCCAAGAACTGGGAAG	0.368																																					p.K456N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1368T	2						.						99.0	103.0	102.0					2																	27898421		2203	4300	6503	27751925	SO:0001583	missense	22950	exon6				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1368G>T	2.37:g.27898421G>T	ENSP00000323837:p.Lys456Asn	Somatic		Capture	Illumina HiSeq	Phase_I	27751925	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970654	0.74246	.	.	ENSG00000163798	ENST00000326019	T	0.39056	1.1	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.57177	-0.7856	10	0.62326	D	0.03	-22.7406	10.5034	0.44819	0.1483:0.0:0.8517:0.0	.	456	Q9BWU0	NADAP_HUMAN	N	456	ENSP00000323837:K456N	ENSP00000323837:K456N	K	+	3	2	SLC4A1AP	27751925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.469000	0.45110	1.358000	0.45922	0.555000	0.69702	AAG		0.368	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
PLB1	151056	broad.mit.edu	37	2	28755049	28755049	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:28755049C>A	ENST00000327757.5	+	9	587	c.543C>A	c.(541-543)ccC>ccA	p.P181P	PLB1_ENST00000422425.2_Silent_p.P181P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	181	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.P181P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTGTGCCCCTCTGCTCAAC	0.483																																					p.P181P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543A	2						.						172.0	156.0	161.0					2																	28755049		2203	4300	6503	28608553	SO:0001819	synonymous_variant	151056	exon9				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.543C>A	2.37:g.28755049C>A		Somatic		Capture	Illumina HiSeq	Phase_I	28608553	NM_001170585	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	2.727	-0.265172	0.05754	.	.	ENSG00000163803	ENST00000404858	T	0.12879	2.64	5.81	2.99	0.34606	.	1.223500	0.05609	N	0.577817	T	0.11879	0.0289	.	.	.	0.22034	N	0.999406	.	.	.	.	.	.	T	0.36065	-0.9763	7	0.38643	T	0.18	-2.8346	3.7323	0.08498	0.1726:0.5724:0.1665:0.0885	.	.	.	.	H	180	ENSP00000384187:P180H	ENSP00000384187:P180H	P	+	2	0	PLB1	28608553	0.278000	0.24230	0.193000	0.23327	0.540000	0.34992	1.025000	0.30090	0.753000	0.32945	0.650000	0.86243	CCT		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
PLB1	151056	broad.mit.edu	37	2	28855867	28855867	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:28855867C>T	ENST00000327757.5	+	56	4103	c.4059C>T	c.(4057-4059)cgC>cgT	p.R1353R	PLB1_ENST00000541605.1_Silent_p.R318R|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000422425.2_Silent_p.R1342R	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1353	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.R1353R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTCAGACCGCGGGCATGCCG	0.557																																					p.R1342R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4026T	2						.						135.0	124.0	128.0					2																	28855867		2203	4300	6503	28709371	SO:0001819	synonymous_variant	151056	exon55				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4059C>T	2.37:g.28855867C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28709371	NM_001170585	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.268|1.268	-0.613789|-0.613789	0.03690|0.03690	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000436775	.|T	.|0.52526	.|0.66	5.77|5.77	-11.5|-11.5	0.00074|0.00074	.|.	.|0.067848	.|0.52532	.|D	.|0.000078	T|T	0.43010|0.43010	0.1228|0.1228	.|.	.|.	.|.	0.30152|0.30152	N|N	0.802989|0.802989	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63571|0.63571	-0.6607|-0.6607	4|7	.|0.49607	.|T	.|0.09	-15.0871|-15.0871	13.5508|13.5508	0.61730|0.61730	0.0:0.5479:0.3021:0.15|0.0:0.5479:0.3021:0.15	.|.	.|.	.|.	.|.	V|W	1341|81	.|ENSP00000399712:R81W	.|ENSP00000399712:R81W	A|R	+|+	2|1	0|2	PLB1|PLB1	28709371|28709371	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.193000|0.193000	0.23685|0.23685	-3.028000|-3.028000	0.00639|0.00639	-2.729000|-2.729000	0.00385|0.00385	-1.762000|-1.762000	0.00668|0.00668	GCG|CGG		0.557	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
WDR43	23160	broad.mit.edu	37	2	29136955	29136955	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:29136955G>A	ENST00000407426.3	+	5	683	c.627G>A	c.(625-627)acG>acA	p.T209T	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	209						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T252T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACATGCAACGCCAGTTTCGT	0.393																																					p.T209T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	2						.						92.0	86.0	88.0					2																	29136955		1881	4111	5992	28990459	SO:0001819	synonymous_variant	23160	exon5			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.627G>A	2.37:g.29136955G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28990459	NM_015131	Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	CCDS46251.1																																																																																				0.393	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089	
LCLAT1	253558	broad.mit.edu	37	2	30682470	30682470	+	5'UTR	SNP	A	A	G	rs55723517	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:30682470A>G	ENST00000309052.4	+	0	201				LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000359433.1_5'UTR|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000319406.4_5'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1						cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CAAATGGATGATGTGATATAT	0.443																																					.												.	.	0			.	2						.						234.0	229.0	231.0					2																	30682470		2203	4300	6503	30535974	SO:0001623	5_prime_UTR_variant	253558	.			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.-9A>G	2.37:g.30682470A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30535974	.	A6H8Z7|Q8N1Q7	5'UTR	SNP	ENST00000309052.4	37	CCDS1772.1																																																																																				0.443	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	
LCLAT1	253558	broad.mit.edu	37	2	30863018	30863018	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:30863018G>T	ENST00000309052.4	+	7	987	c.778G>T	c.(778-780)Gcg>Tcg	p.A260S	LCLAT1_ENST00000379509.3_Missense_Mutation_p.A222S|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A222S	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	260					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.A260S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TATCACTGTGGCGTATCCTCA	0.448																																					p.A260S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778T	2						.						190.0	182.0	184.0					2																	30863018		2203	4300	6503	30716522	SO:0001583	missense	253558	exon7			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.778G>T	2.37:g.30863018G>T	ENSP00000310551:p.Ala260Ser	Somatic		Capture	Illumina HiSeq	Phase_I	30716522	NM_182551	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545465	0.65198	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	D;D;D	0.97575	-4.44;-4.44;-4.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.83692	2.655	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.98725	1.0710	10	0.62326	D	0.03	-19.5115	19.9944	0.97379	0.0:0.0:1.0:0.0	.	260	Q6UWP7	LCLT1_HUMAN	S	222;222;260;222	ENSP00000368823:A222S;ENSP00000310551:A260S;ENSP00000442857:A222S	ENSP00000310551:A260S	A	+	1	0	LCLAT1	30716522	1.000000	0.71417	0.993000	0.49108	0.034000	0.12701	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GCG		0.448	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	
GALNT14	79623	broad.mit.edu	37	2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	rs143143842		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:31167749G>A	ENST00000349752.5	-	8	1441	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	GALNT14_ENST00000324589.5_Missense_Mutation_p.R273C|GALNT14_ENST00000420311.2_Missense_Mutation_p.R233C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R248C|GALNT14_ENST00000356174.3_Missense_Mutation_p.R235C|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	268					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R268C(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTCCAGGCGCCGAGCCTTC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16837	0.0		0.0	False		,,,				2504	0.0				p.R268C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C802T	2						.						63.0	63.0	63.0					2																	31167749		2203	4300	6503	31021253	SO:0001583	missense	79623	exon8			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.802C>T	2.37:g.31167749G>A	ENSP00000288988:p.Arg268Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31021253	NM_024572	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.419254	0.83559	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;P;D;D	0.79108	0.979;0.942;0.787;0.992;0.975	D	0.90522	0.4489	10	0.87932	D	0	.	18.5157	0.90935	0.0:0.0:1.0:0.0	.	233;235;273;268;248	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	268;273;248;235;233;235	ENSP00000288988:R268C;ENSP00000314500:R273C;ENSP00000385435:R248C;ENSP00000348497:R235C;ENSP00000415514:R233C;ENSP00000406399:R235C	ENSP00000314500:R273C	R	-	1	0	GALNT14	31021253	1.000000	0.71417	0.982000	0.44146	0.947000	0.59692	3.377000	0.52425	2.544000	0.85801	0.313000	0.20887	CGC		0.587	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
EHD3	30845	broad.mit.edu	37	2	31489265	31489265	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:31489265G>A	ENST00000322054.5	+	6	1588	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	435					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.D435N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGAAGGTATCGATGATGCTGA	0.612																																					p.D435N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1303A	2						.						89.0	78.0	82.0					2																	31489265		2203	4300	6503	31342769	SO:0001583	missense	30845	exon6			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1303G>A	2.37:g.31489265G>A	ENSP00000327116:p.Asp435Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31342769	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998102	0.74818	.	.	ENSG00000013016	ENST00000322054	T	0.18174	2.23	5.84	5.84	0.93424	EF-hand-like domain (1);	0.041945	0.85682	D	0.000000	T	0.24661	0.0598	M	0.66939	2.045	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.02244	-1.1189	10	0.33940	T	0.23	-19.2937	20.1432	0.98067	0.0:0.0:1.0:0.0	.	435	Q9NZN3	EHD3_HUMAN	N	435	ENSP00000327116:D435N	ENSP00000327116:D435N	D	+	1	0	EHD3	31342769	1.000000	0.71417	0.939000	0.37840	0.889000	0.51656	7.812000	0.86109	2.769000	0.95229	0.561000	0.74099	GAT		0.612	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
XDH	7498	broad.mit.edu	37	2	31562527	31562527	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:31562527A>G	ENST00000379416.3	-	34	3650	c.3602T>C	c.(3601-3603)gTc>gCc	p.V1201A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1201					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.V1201A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAGGCCCTGGACAAATGCCCC	0.587																																					p.V1201A	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3602C	2						.						61.0	60.0	60.0					2																	31562527		2203	4300	6503	31416031	SO:0001583	missense	7498	exon34			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3602T>C	2.37:g.31562527A>G	ENSP00000368727:p.Val1201Ala	Somatic		Capture	Illumina HiSeq	Phase_I	31416031	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837037	0.71373	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.91	5.91	0.95273	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.096119	0.64402	D	0.000001	T	0.51991	0.1707	M	0.80183	2.485	0.80722	D	1	B	0.22414	0.069	B	0.30251	0.113	T	0.54255	-0.8321	10	0.87932	D	0	.	16.0218	0.80503	1.0:0.0:0.0:0.0	.	1201	P47989	XDH_HUMAN	A	1201	ENSP00000368727:V1201A	ENSP00000368727:V1201A	V	-	2	0	XDH	31416031	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.441000	0.80485	2.254000	0.74563	0.533000	0.62120	GTC		0.587	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAATAAAGCTCGTTCCATAAT	0.498																																					p.R881Q	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2642A	2						.						68.0	73.0	71.0					2																	31573079		2203	4300	6503	31426583	SO:0001583	missense	7498	exon25			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2642G>A	2.37:g.31573079C>T	ENSP00000368727:p.Arg881Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31426583	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	XDH	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA		0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
DPY30	84661	broad.mit.edu	37	2	32249318	32249318	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32249318T>G	ENST00000342166.5	-	5	350	c.235A>C	c.(235-237)Aat>Cat	p.N79H	DPY30_ENST00000446765.1_5'Flank|DPY30_ENST00000295066.3_Missense_Mutation_p.N79H			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	79					endosomal transport (GO:0016197)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N79H(1)		large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCAATGGGATTTGGTGGTCTG	0.299																																					p.N79H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A235C	2						.						96.0	87.0	90.0					2																	32249318		2203	4300	6503	32102822	SO:0001583	missense	84661	exon5				CCDS1777.1	2p22.3	2013-09-09			ENSG00000162961	ENSG00000162961			24590	protein-coding gene	gene with protein product		612032				12477932	Standard	XM_006712117		Approved	Saf19, HDPY-30, Cps25	uc002roa.1	Q9C005	OTTHUMG00000128457	ENST00000342166.5:c.235A>C	2.37:g.32249318T>G	ENSP00000345837:p.Asn79His	Somatic		Capture	Illumina HiSeq	Phase_I	32102822	NM_032574	D6W578	Missense_Mutation	SNP	ENST00000342166.5	37	CCDS1777.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804144	0.90623	.	.	ENSG00000162961	ENST00000342166;ENST00000295066	T;T	0.78246	-1.16;-1.16	5.96	5.96	0.96718	Dpy-30 motif (1);	0.043636	0.85682	D	0.000000	D	0.84142	0.5407	.	.	.	0.80722	D	1	P	0.46457	0.878	P	0.52514	0.701	D	0.85946	0.1461	9	0.87932	D	0	.	16.1061	0.81223	0.0:0.0:0.0:1.0	.	79	Q9C005	DPY30_HUMAN	H	79	ENSP00000345837:N79H;ENSP00000295066:N79H	ENSP00000295066:N79H	N	-	1	0	DPY30	32102822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.478000	0.81082	2.284000	0.76573	0.528000	0.53228	AAT		0.299	DPY30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250255.2	NM_032574	
SPAST	6683	broad.mit.edu	37	2	32314680	32314680	+	Intron	SNP	A	A	C	rs554544808		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32314680A>C	ENST00000315285.3	+	3	711				SPAST_ENST00000345662.1_Intron|AL121655.1_ENST00000577299.1_RNA	NM_014946.3	NP_055761.2			spastin									p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTAGGTATCAATTAATGTAT	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						89.0	87.0	88.0					2																	32314680		2203	4300	6503	32168184	SO:0001627	intron_variant	6683	.			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.586+6A>C	2.37:g.32314680A>C		Somatic		Capture	Illumina HiSeq	Phase_I	32168184	.		Intron	SNP	ENST00000315285.3	37	CCDS1778.1																																																																																				0.353	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	
NLRC4	58484	broad.mit.edu	37	2	32475156	32475156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32475156C>T	ENST00000404025.2	-	5	2265	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	NLRC4_ENST00000360906.5_Missense_Mutation_p.D593N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.D593N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.D593N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATAAGTAATCGGGGATGTTC	0.398																																					p.D593N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1777A	2						.						96.0	99.0	98.0					2																	32475156		2203	4300	6503	32328660	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1777G>A	2.37:g.32475156C>T	ENSP00000385090:p.Asp593Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32328660	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.722865	0.15439	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.54675	0.56;0.56;0.56	3.0	3.0	0.34707	.	0.296248	0.23720	N	0.045226	T	0.41971	0.1182	L	0.27053	0.805	0.31540	N	0.660023	D	0.65815	0.995	P	0.51777	0.679	T	0.50013	-0.8877	9	0.37606	T	0.19	.	3.8079	0.08785	0.2435:0.6285:0.0:0.128	.	593	Q9NPP4	NLRC4_HUMAN	N	593	ENSP00000354159:D593N;ENSP00000385428:D593N;ENSP00000385090:D593N	ENSP00000354159:D593N	D	-	1	0	NLRC4	32328660	0.707000	0.27866	0.980000	0.43619	0.691000	0.40173	1.097000	0.30988	2.007000	0.58848	0.543000	0.68304	GAT		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475265	32475265	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32475265C>T	ENST00000404025.2	-	5	2156	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	NLRC4_ENST00000360906.5_Silent_p.E556E|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.E556E			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	556					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E556E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGATGCCACACTCTACAAAGG	0.403																																					p.E556E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1668A	2						.						141.0	130.0	133.0					2																	32475265		2203	4300	6503	32328769	SO:0001819	synonymous_variant	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1668G>A	2.37:g.32475265C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32328769	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																				0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32476423	32476423	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32476423T>G	ENST00000404025.2	-	5	998	c.510A>C	c.(508-510)gaA>gaC	p.E170D	NLRC4_ENST00000360906.5_Missense_Mutation_p.E170D|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E170D			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	170	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E170D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTTGCCAGATTCCCCTTCAA	0.567																																					p.E170D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A510C	2						.						68.0	67.0	67.0					2																	32476423		2203	4300	6503	32329927	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.510A>C	2.37:g.32476423T>G	ENSP00000385090:p.Glu170Asp	Somatic		Capture	Illumina HiSeq	Phase_I	32329927	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774205	0.49786	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.24151	1.87;1.87;1.87	3.37	-1.65	0.08291	NACHT nucleoside triphosphatase (1);	0.000000	0.48767	D	0.000167	T	0.19886	0.0478	M	0.62723	1.935	0.36500	D	0.868938	P	0.36616	0.561	B	0.37144	0.242	T	0.10520	-1.0626	9	0.34782	T	0.22	-12.495	4.7025	0.12834	0.0:0.2713:0.1584:0.5703	.	170	Q9NPP4	NLRC4_HUMAN	D	170	ENSP00000354159:E170D;ENSP00000385428:E170D;ENSP00000385090:E170D	ENSP00000354159:E170D	E	-	3	2	NLRC4	32329927	1.000000	0.71417	0.906000	0.35671	0.662000	0.39071	0.477000	0.22196	-0.039000	0.13602	-0.451000	0.05528	GAA		0.567	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
BIRC6	57448	broad.mit.edu	37	2	32640719	32640719	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32640719A>C	ENST00000421745.2	+	10	2494	c.2360A>C	c.(2359-2361)aAt>aCt	p.N787T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	787					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.N759T(1)|p.N787T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGGAATCAAATCTTGCTGTA	0.363																																					p.N787T	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2360C	2						.						67.0	71.0	70.0					2																	32640719		2203	4300	6503	32494223	SO:0001583	missense	57448	exon10			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2360A>C	2.37:g.32640719A>C	ENSP00000393596:p.Asn787Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32494223	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	9.120	1.008743	0.19199	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.76	2.17	0.27698	.	0.355222	0.29579	N	0.011755	T	0.50463	0.1617	N	0.08118	0	0.19300	N	0.999971	B	0.09022	0.002	B	0.06405	0.002	T	0.44267	-0.9339	10	0.56958	D	0.05	.	6.7825	0.23654	0.5418:0.0:0.4582:0.0	.	787	Q9NR09	BIRC6_HUMAN	T	787	ENSP00000393596:N787T	ENSP00000393596:N787T	N	+	2	0	BIRC6	32494223	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.078000	0.41567	0.459000	0.27016	0.533000	0.62120	AAT		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32710802	32710802	+	Missense_Mutation	SNP	G	G	A	rs368623523		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32710802G>A	ENST00000421745.2	+	40	7923	c.7789G>A	c.(7789-7791)Gca>Aca	p.A2597T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2597					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A2569T(1)|p.A2597T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATTTTACAGGCATTAACAAA	0.388																																					p.A2597T	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7789A	2						.	G	THR/ALA	0,4406		0,0,2203	106.0	100.0	102.0		7789	5.6	1.0	2		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	BIRC6	NM_016252.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2597/4858	32710802	1,13005	2203	4300	6503	32564306	SO:0001583	missense	57448	exon40			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7789G>A	2.37:g.32710802G>A	ENSP00000393596:p.Ala2597Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32564306	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270897	0.80469	0.0	1.16E-4	ENSG00000115760	ENST00000421745	T	0.75154	-0.91	5.62	5.62	0.85841	.	0.068634	0.56097	D	0.000028	T	0.65344	0.2682	N	0.24115	0.695	0.58432	D	0.999999	P	0.42908	0.793	B	0.38842	0.283	T	0.69815	-0.5043	10	0.56958	D	0.05	.	19.6547	0.95831	0.0:0.0:1.0:0.0	.	2597	Q9NR09	BIRC6_HUMAN	T	2597	ENSP00000393596:A2597T	ENSP00000393596:A2597T	A	+	1	0	BIRC6	32564306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.936000	0.87665	2.661000	0.90470	0.655000	0.94253	GCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32733144	32733144	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32733144A>C	ENST00000421745.2	+	51	9932	c.9798A>C	c.(9796-9798)aaA>aaC	p.K3266N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3266					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.K3238N(1)|p.K3266N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCTACATAAAAATTCAGCTTG	0.453																																					p.K3266N	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9798C	2						.						87.0	81.0	83.0					2																	32733144		2203	4300	6503	32586648	SO:0001583	missense	57448	exon51			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9798A>C	2.37:g.32733144A>C	ENSP00000393596:p.Lys3266Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32586648	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187711	0.78789	.	.	ENSG00000115760	ENST00000421745	T	0.77750	-1.12	5.81	4.66	0.58398	.	0.049817	0.85682	D	0.000000	T	0.80763	0.4685	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.81747	-0.0791	10	0.72032	D	0.01	.	11.779	0.52001	0.9316:0.0:0.0684:0.0	.	3266	Q9NR09	BIRC6_HUMAN	N	3266	ENSP00000393596:K3266N	ENSP00000393596:K3266N	K	+	3	2	BIRC6	32586648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.356000	0.59430	1.023000	0.39654	-0.256000	0.11100	AAA		0.453	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32800401	32800401	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:32800401G>T	ENST00000421745.2	+	66	13457	c.13323G>T	c.(13321-13323)aaG>aaT	p.K4441N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4441					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.K4413N(1)|p.K4441N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAAATGAAGACCTGTGTTG	0.388																																					p.K4441N	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G13323T	2						.						127.0	128.0	128.0					2																	32800401		2203	4300	6503	32653905	SO:0001583	missense	57448	exon66			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13323G>T	2.37:g.32800401G>T	ENSP00000393596:p.Lys4441Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32653905	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370628	0.61624	.	.	ENSG00000115760	ENST00000421745	T	0.76839	-1.05	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	M	0.72353	2.195	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	D	0.87180	0.2227	10	0.72032	D	0.01	.	13.0908	0.59166	0.0732:0.0:0.9268:0.0	.	4441	Q9NR09	BIRC6_HUMAN	N	4441	ENSP00000393596:K4441N	ENSP00000393596:K4441N	K	+	3	2	BIRC6	32653905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.967000	0.63722	2.701000	0.92244	0.655000	0.94253	AAG		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
LTBP1	4052	broad.mit.edu	37	2	33614284	33614284	+	Missense_Mutation	SNP	C	C	T	rs534680091		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:33614284C>T	ENST00000404816.2	+	32	5098	c.4745C>T	c.(4744-4746)aCg>aTg	p.T1582M	LTBP1_ENST00000418533.2_Missense_Mutation_p.T1214M|LTBP1_ENST00000407925.1_Missense_Mutation_p.T1256M|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1257M|LTBP1_ENST00000272273.5_Missense_Mutation_p.T480M|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1203M|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1583M|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1201M			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1582					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T1583M(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATCCCCGTGACGGGACGCCGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17421	0.001		0.0	False		,,,				2504	0.0				p.T1214M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C3641T	2						.						113.0	102.0	106.0					2																	33614284		2203	4300	6503	33467788	SO:0001583	missense	4052	exon27				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4745C>T	2.37:g.33614284C>T	ENSP00000386043:p.Thr1582Met	Somatic		Capture	Illumina HiSeq	Phase_I	33467788	NM_001166264	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	10.59	1.394098	0.25205	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	T;T;T;T;T;T;T;D	0.84873	-1.42;-1.41;-1.36;-1.31;-1.34;-1.33;-1.32;-1.91	5.3	2.48	0.30137	Matrix fibril-associated (1);	.	.	.	.	T	0.68531	0.3011	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.25169	0.016;0.033;0.021;0.012;0.01;0.01;0.119	B;B;B;B;B;B;B	0.17979	0.011;0.009;0.005;0.01;0.007;0.012;0.02	T	0.57608	-0.7782	9	0.48119	T	0.1	.	7.1122	0.25396	0.0:0.7083:0.1408:0.1509	.	480;1582;1214;1203;1256;1257;1583	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	M	1582;1583;1257;1214;1201;1203;1256;480	ENSP00000386043:T1582M;ENSP00000346467:T1583M;ENSP00000374653:T1257M;ENSP00000393057:T1214M;ENSP00000384373:T1201M;ENSP00000385359:T1203M;ENSP00000384091:T1256M;ENSP00000272273:T480M	ENSP00000272273:T480M	T	+	2	0	LTBP1	33467788	0.000000	0.05858	0.000000	0.03702	0.848000	0.48234	1.137000	0.31479	0.300000	0.22699	0.650000	0.86243	ACG		0.557	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
RASGRP3	25780	broad.mit.edu	37	2	33780598	33780598	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:33780598C>A	ENST00000403687.3	+	15	2283	c.1543C>A	c.(1543-1545)Ctc>Atc	p.L515I	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Splice_Site_p.L515I|RASGRP3_ENST00000407811.1_Splice_Site_p.L514I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	515					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.L515I(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTGTTACAGCTCTGGGGCAT	0.383																																					p.L515I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543A	2						.						77.0	73.0	74.0					2																	33780598		1849	4102	5951	33634102	SO:0001630	splice_region_variant	25780	exon16			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1543-1C>A	2.37:g.33780598C>A		Somatic		Capture	Illumina HiSeq	Phase_I	33634102	NM_170672	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447683	0.43429	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	D;D;D	0.92965	-3.14;-3.14;-3.14	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.64402	D	0.000001	D	0.86619	0.5976	N	0.16166	0.38	0.51767	D	0.99993	B;B	0.29508	0.246;0.246	B;B	0.34180	0.177;0.177	T	0.83017	-0.0169	9	.	.	.	-13.6783	19.2188	0.93788	0.0:1.0:0.0:0.0	.	514;515	D6W583;Q8IV61	.;GRP3_HUMAN	I	515;515;514	ENSP00000385886:L515I;ENSP00000384192:L515I;ENSP00000383917:L514I	.	L	+	1	0	RASGRP3	33634102	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.142000	0.50601	2.520000	0.84964	0.650000	0.86243	CTC		0.383	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	Missense_Mutation
CRIM1	51232	broad.mit.edu	37	2	36774120	36774120	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:36774120C>A	ENST00000280527.2	+	16	3113				AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)						insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AATTTTTTTTCTCCTAGATAT	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						56.0	58.0	58.0					2																	36774120		2203	4300	6503	36627624	SO:0001627	intron_variant	51232	.			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2747-7C>A	2.37:g.36774120C>A		Somatic		Capture	Illumina HiSeq	Phase_I	36627624	.	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Intron	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.378	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
VIT	5212	broad.mit.edu	37	2	37032612	37032612	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37032612C>A	ENST00000389975.3	+	13	1451	c.1149C>A	c.(1147-1149)ttC>ttA	p.F383L	VIT_ENST00000401530.1_Missense_Mutation_p.F362L|VIT_ENST00000404084.1_Missense_Mutation_p.F335L|VIT_ENST00000379242.3_Missense_Mutation_p.F398L|VIT_ENST00000379241.3_Missense_Mutation_p.F361L|VIT_ENST00000497382.1_Missense_Mutation_p.F52L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	383	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.F398L(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAAGAACTTCTTTTCCAAAG	0.488																																					p.F398L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1194A	2						.						73.0	74.0	74.0					2																	37032612		2203	4300	6503	36886116	SO:0001583	missense	5212	exon14			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1149C>A	2.37:g.37032612C>A	ENSP00000374625:p.Phe383Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36886116	NM_053276	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048666	0.93740	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.186874	0.51477	D	0.000089	T	0.79569	0.4468	L	0.33293	1	0.80722	D	1	D;D;D;D	0.69078	0.993;0.991;0.997;0.962	D;P;D;P	0.67382	0.927;0.881;0.951;0.798	T	0.74965	-0.3484	10	0.21014	T	0.42	-23.2756	12.6901	0.56970	0.0:0.9248:0.0:0.0752	.	362;361;383;398	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	L	398;383;52;335;361;362	ENSP00000368544:F398L;ENSP00000374625:F383L;ENSP00000417874:F52L;ENSP00000384154:F335L;ENSP00000368543:F361L;ENSP00000385658:F362L	ENSP00000368543:F361L	F	+	3	2	VIT	36886116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.061000	0.71148	2.569000	0.86673	0.650000	0.86243	TTC		0.488	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
STRN	6801	broad.mit.edu	37	2	37096881	37096881	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37096881G>T	ENST00000263918.4	-	11	1332				RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Intron	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein						dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCTATTAAAGAAACAAAACA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						83.0	66.0	72.0					2																	37096881		2202	4300	6502	36950385	SO:0001627	intron_variant	6801	.			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1324-9C>A	2.37:g.37096881G>T		Somatic		Capture	Illumina HiSeq	Phase_I	36950385	.	Q3KP65|Q53TQ8|Q9NP38	Intron	SNP	ENST00000263918.4	37	CCDS1784.1																																																																																				0.358	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
HEATR5B	54497	broad.mit.edu	37	2	37215941	37215941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37215941G>T	ENST00000233099.5	-	35	5854	c.5759C>A	c.(5758-5760)tCa>tAa	p.S1920*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.S1831*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1920						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S1920*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATAAGGAGTTGAAAGGGCACG	0.373																																					p.S1920X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5759A	2						.						105.0	109.0	107.0					2																	37215941		2203	4300	6503	37069445	SO:0001587	stop_gained	54497	exon35			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5759C>A	2.37:g.37215941G>T	ENSP00000233099:p.Ser1920*	Somatic		Capture	Illumina HiSeq	Phase_I	37069445	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	37	6.063061	0.97246	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.725	19.4943	0.95065	0.0:0.0:1.0:0.0	.	.	.	.	X	21;1920;1831	.	ENSP00000233099:S1920X	S	-	2	0	HEATR5B	37069445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.495000	0.97964	2.677000	0.91161	0.491000	0.48974	TCA		0.373	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
HEATR5B	54497	broad.mit.edu	37	2	37255825	37255825	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37255825A>C	ENST00000233099.5	-	23	3695	c.3600T>G	c.(3598-3600)agT>agG	p.S1200R	HEATR5B_ENST00000354531.2_Splice_Site_p.S1200R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1200						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S1200R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATACTTACCACTAGAAGCTG	0.313																																					p.S1200R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3600G	2						.						58.0	60.0	59.0					2																	37255825		2203	4300	6503	37109329	SO:0001630	splice_region_variant	54497	exon23			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3601+1T>G	2.37:g.37255825A>C		Somatic		Capture	Illumina HiSeq	Phase_I	37109329	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.904046	0.33628	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.53640	0.61;0.61	4.55	3.4	0.38934	Armadillo-type fold (1);	0.086997	0.85682	D	0.000000	T	0.33147	0.0853	N	0.24115	0.695	0.49299	D	0.999776	P	0.35174	0.488	B	0.43413	0.419	T	0.08597	-1.0714	10	0.07813	T	0.8	-16.4946	6.8946	0.24249	0.7383:0.0:0.2617:0.0	.	1200	Q9P2D3	HTR5B_HUMAN	R	1200	ENSP00000233099:S1200R;ENSP00000346531:S1200R	ENSP00000233099:S1200R	S	-	3	2	HEATR5B	37109329	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.515000	0.35845	0.611000	0.30052	0.460000	0.39030	AGT		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Missense_Mutation
SULT6B1	391365	broad.mit.edu	37	2	37395089	37395089	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37395089A>G	ENST00000535679.1	-	7	900	c.901T>C	c.(901-903)Tgc>Cgc	p.C301R	SULT6B1_ENST00000260637.3_Missense_Mutation_p.C263R|SULT6B1_ENST00000379149.2_Missense_Mutation_p.C197R|SULT6B1_ENST00000407963.1_Missense_Mutation_p.C263R			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	301						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.C263R(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CAACCCTGGCAATATGATTCA	0.323																																					p.C263R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T787C	2						.						107.0	108.0	107.0					2																	37395089		2203	4300	6503	37248593	SO:0001583	missense	391365	exon7			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.901T>C	2.37:g.37395089A>G	ENSP00000444081:p.Cys301Arg	Somatic		Capture	Illumina HiSeq	Phase_I	37248593	NM_001032377	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37		.	.	.	.	.	.	.	.	.	.	A	16.85	3.235336	0.58886	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	T;T;T;T	0.03242	4.78;4.0;4.77;4.77	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000004	T	0.19127	0.0459	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00538	-1.1682	10	0.87932	D	0	.	13.3227	0.60442	1.0:0.0:0.0:0.0	.	301	Q6IMI4	ST6B1_HUMAN	R	301;197;263;263	ENSP00000444081:C301R;ENSP00000368444:C197R;ENSP00000260637:C263R;ENSP00000384950:C263R	ENSP00000260637:C263R	C	-	1	0	SULT6B1	37248593	1.000000	0.71417	0.427000	0.26684	0.862000	0.49288	6.553000	0.73918	2.038000	0.60285	0.533000	0.62120	TGC		0.323	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377	
NDUFAF7	55471	broad.mit.edu	37	2	37475354	37475354	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37475354A>C	ENST00000002125.4	+	10	1227	c.1187A>C	c.(1186-1188)aAg>aCg	p.K396T	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.K298T	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	396					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.K396T(1)									ATGAATCCAAAGAAGATGGGA	0.373																																					p.K396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1187C	2						.						125.0	118.0	120.0					2																	37475354		2203	4300	6503	37328858	SO:0001583	missense	55471	exon10				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.1187A>C	2.37:g.37475354A>C	ENSP00000002125:p.Lys396Thr	Somatic		Capture	Illumina HiSeq	Phase_I	37328858	NM_144736	Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443657	0.25987	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.77098	-1.07;-1.07	5.76	1.86	0.25419	.	0.621127	0.17943	N	0.156793	T	0.67059	0.2853	L	0.43152	1.355	0.09310	N	0.99999	B;B;B;B	0.33512	0.009;0.415;0.022;0.015	B;B;B;B	0.35114	0.011;0.196;0.037;0.007	T	0.52771	-0.8531	10	0.23302	T	0.38	-2.4652	8.5873	0.33666	0.6284:0.2514:0.0:0.1202	.	369;325;298;396	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	T	396;298	ENSP00000002125:K396T;ENSP00000337431:K298T	ENSP00000002125:K396T	K	+	2	0	C2orf56	37328858	0.923000	0.31300	0.985000	0.45067	0.986000	0.74619	2.018000	0.40991	0.433000	0.26313	0.482000	0.46254	AAG		0.373	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736	
PRKD3	23683	broad.mit.edu	37	2	37505121	37505121	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37505121C>T	ENST00000379066.1	-	9	1946	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	PRKD3_ENST00000234179.2_Missense_Mutation_p.S395N			O94806	KPCD3_HUMAN	protein kinase D3	395					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.S395N(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AATATTATTGCTTGTTGATGG	0.348																																					p.S395N	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1184A	2						.						156.0	131.0	139.0					2																	37505121		2203	4300	6503	37358625	SO:0001583	missense	23683	exon8			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1184G>A	2.37:g.37505121C>T	ENSP00000368356:p.Ser395Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37358625	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035767	0.75617	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.71103	-0.54;-0.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.75615	2.305	0.80722	D	1	P;B	0.47962	0.903;0.205	P;B	0.52881	0.712;0.275	T	0.82022	-0.0663	10	0.54805	T	0.06	-17.0284	19.1993	0.93704	0.0:1.0:0.0:0.0	.	395;395	O94806-2;O94806	.;KPCD3_HUMAN	N	395	ENSP00000368356:S395N;ENSP00000234179:S395N	ENSP00000234179:S395N	S	-	2	0	PRKD3	37358625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.814000	0.86154	2.526000	0.85167	0.655000	0.94253	AGC		0.348	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
QPCT	25797	broad.mit.edu	37	2	37587011	37587011	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:37587011T>G	ENST00000338415.3	+	3	704				QPCT_ENST00000537448.1_Intron	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase						cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GGTATCTGTTTTCTGCTTATT	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						109.0	108.0	108.0					2																	37587011		2203	4300	6503	37440515	SO:0001627	intron_variant	25797	.			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.546+10T>G	2.37:g.37587011T>G		Somatic		Capture	Illumina HiSeq	Phase_I	37440515	.	Q16770|Q3KRG6|Q53TR4	Intron	SNP	ENST00000338415.3	37	CCDS1790.1																																																																																				0.403	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2		
ATL2	64225	broad.mit.edu	37	2	38536613	38536613	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:38536613G>T	ENST00000378954.4	-	9	980	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ATL2_ENST00000452935.2_Missense_Mutation_p.L309M|ATL2_ENST00000402054.1_Missense_Mutation_p.L156M|ATL2_ENST00000406122.1_Missense_Mutation_p.L156M|ATL2_ENST00000546051.1_Missense_Mutation_p.L156M|ATL2_ENST00000419554.2_Missense_Mutation_p.L327M|ATL2_ENST00000332337.4_Missense_Mutation_p.L309M|ATL2_ENST00000539122.1_Missense_Mutation_p.L156M	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	327	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L327M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AATGGAACCAGATTTCGAAGC	0.348																																					p.L327M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979A	2						.						86.0	86.0	86.0					2																	38536613		2203	4300	6503	38390117	SO:0001583	missense	64225	exon9				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.979C>A	2.37:g.38536613G>T	ENSP00000368237:p.Leu327Met	Somatic		Capture	Illumina HiSeq	Phase_I	38390117	NM_022374	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590028	0.66105	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.17	4.32	0.51571	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86264	0.5891	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;0.996;0.972;0.978	D;D;D;P;D	0.79784	0.993;0.924;0.957;0.906;0.924	D	0.85212	0.1021	10	0.49607	T	0.09	-7.8807	8.9273	0.35648	0.2575:0.0:0.7425:0.0	.	156;309;309;327;327	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	M	327;156;156;156;309;327;309;156;145	ENSP00000368237:L327M;ENSP00000385446:L156M;ENSP00000384062:L156M;ENSP00000446192:L156M;ENSP00000333393:L309M;ENSP00000415336:L327M;ENSP00000390743:L309M;ENSP00000438938:L156M;ENSP00000409811:L145M	ENSP00000333393:L309M	L	-	1	2	ATL2	38390117	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.123000	0.50453	0.875000	0.35847	0.655000	0.94253	CTG		0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374	
SRSF7	6432	broad.mit.edu	37	2	38975801	38975801	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:38975801T>G	ENST00000313117.6	-	4	624				SRSF7_ENST00000409276.1_Intron|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000446327.2_Intron	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGACCTATTTTTCAAGTTAG	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						75.0	77.0	76.0					2																	38975801		2203	4300	6503	38829305	SO:0001627	intron_variant	6432	.			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.387-6A>C	2.37:g.38975801T>G		Somatic		Capture	Illumina HiSeq	Phase_I	38829305	.	B4DLU6|G5E9M3|Q564D3	Intron	SNP	ENST00000313117.6	37	CCDS33183.1																																																																																				0.398	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684	
DHX57	90957	broad.mit.edu	37	2	39088296	39088296	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39088296G>A	ENST00000295373.6	-	5	1382	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	419							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S419L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACTATTTCCGACTCTTCCTC	0.413																																					p.S419L	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1256T	2						.						121.0	125.0	124.0					2																	39088296		2203	4300	6503	38941800	SO:0001583	missense	90957	exon5			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1256C>T	2.37:g.39088296G>A	ENSP00000295373:p.Ser419Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38941800	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221087	0.39201	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02763	4.17	5.67	3.65	0.41850	Ubiquitin-conjugating enzyme/RWD-like (1);	0.318637	0.22491	N	0.059380	T	0.01870	0.0059	N	0.22421	0.69	0.22911	N	0.998579	P;B	0.44521	0.837;0.24	B;B	0.31390	0.129;0.061	T	0.48043	-0.9069	10	0.07482	T	0.82	.	16.2079	0.82141	0.0:0.0:0.6407:0.3593	.	419;419	Q6P158-2;Q6P158	.;DHX57_HUMAN	L	419;317	ENSP00000295373:S419L	ENSP00000295373:S419L	S	-	2	0	DHX57	38941800	0.976000	0.34144	1.000000	0.80357	0.759000	0.43091	2.110000	0.41873	1.376000	0.46267	0.655000	0.94253	TCG		0.413	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
DHX57	90957	broad.mit.edu	37	2	39088530	39088530	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39088530G>T	ENST00000295373.6	-	5	1148	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	341							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S341Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATTAAGATGAGAATCATCTAC	0.343																																					p.S341Y	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1022A	2						.						53.0	53.0	53.0					2																	39088530		2203	4300	6503	38942034	SO:0001583	missense	90957	exon5			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1022C>A	2.37:g.39088530G>T	ENSP00000295373:p.Ser341Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38942034	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951717	0.73787	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02944	4.1	5.91	5.91	0.95273	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.113382	0.40144	N	0.001164	T	0.08670	0.0215	N	0.19112	0.55	0.38752	D	0.954135	D;D	0.76494	0.999;0.986	D;P	0.68621	0.959;0.908	T	0.30851	-0.9964	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	341;341	Q6P158-2;Q6P158	.;DHX57_HUMAN	Y	341;239	ENSP00000295373:S341Y	ENSP00000295373:S341Y	S	-	2	0	DHX57	38942034	.	.	1.000000	0.80357	0.997000	0.91878	.	.	2.793000	0.96121	0.655000	0.94253	TCT		0.343	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
SOS1	6654	broad.mit.edu	37	2	39281940	39281940	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39281940C>A	ENST00000426016.1	-	6	621	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	SOS1_ENST00000402219.2_Missense_Mutation_p.D179Y|SOS1_ENST00000395038.2_Missense_Mutation_p.D179Y|SOS1_ENST00000428721.2_Missense_Mutation_p.D122Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	179					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D179Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTCTACATCTTGATGAAAC	0.299									Noonan syndrome																												p.D179Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535T	2						.						66.0	76.0	73.0					2																	39281940		2192	4290	6482	39135444	SO:0001583	missense	6654	exon5	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.535G>T	2.37:g.39281940C>A	ENSP00000387784:p.Asp179Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39135444	NM_005633	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652614	0.88056	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;D	0.96587	-1.2;-1.2;-1.33;-4.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	D	0.97190	0.9857	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	179	Q07889	SOS1_HUMAN	Y	179;179;179;179;122	ENSP00000387784:D179Y;ENSP00000384675:D179Y;ENSP00000378479:D179Y;ENSP00000399992:D122Y	ENSP00000263879:D179Y	D	-	1	0	SOS1	39135444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.885000	0.99019	0.655000	0.94253	GAT		0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
CDKL4	344387	broad.mit.edu	37	2	39440539	39440539	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39440539A>G	ENST00000395035.3	-	3	363		c.e3+1		CDKL4_ENST00000378803.1_Splice_Site			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.?(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AATGTTACTTACGTTATGTAT	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						69.0	76.0	73.0					2																	39440539		2203	4300	6503	39294043	SO:0001630	splice_region_variant	344387	.				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.363+1T>C	2.37:g.39440539A>G		Somatic		Capture	Illumina HiSeq	Phase_I	39294043	.	Q2NME9	Splice_Site	SNP	ENST00000395035.3	37		.	.	.	.	.	.	.	.	.	.	A	15.32	2.798704	0.50208	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5339	0.44992	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKL4	39294043	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.516000	0.67055	1.745000	0.51790	0.459000	0.35465	.		0.328	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029	Intron
MAP4K3	8491	broad.mit.edu	37	2	39509677	39509677	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39509677G>T	ENST00000263881.3	-	22	1930	c.1606C>A	c.(1606-1608)Ctt>Att	p.L536I	MAP4K3_ENST00000341681.5_Missense_Mutation_p.L515I|SNORA67_ENST00000516664.1_RNA|MAP4K3_ENST00000536018.1_Missense_Mutation_p.L89I|MAP4K3_ENST00000437545.1_Missense_Mutation_p.L452I	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	536					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L536I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTGGAGGAAGACCATTACTA	0.318																																					p.L536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1606A	2						.						172.0	165.0	168.0					2																	39509677		2203	4300	6503	39363181	SO:0001583	missense	8491	exon22			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1606C>A	2.37:g.39509677G>T	ENSP00000263881:p.Leu536Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39363181	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587745	0.86851	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.75704	-0.96;-0.8;-0.95;1.99	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	D	0.87405	0.2372	10	0.72032	D	0.01	.	18.785	0.91951	0.0:0.0:1.0:0.0	.	515;536	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	I	536;452;515;89	ENSP00000263881:L536I;ENSP00000416958:L452I;ENSP00000345434:L515I;ENSP00000440580:L89I	ENSP00000263881:L536I	L	-	1	0	MAP4K3	39363181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.185000	0.94900	2.423000	0.82170	0.655000	0.94253	CTT		0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
MAP4K3	8491	broad.mit.edu	37	2	39553346	39553346	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39553346T>G	ENST00000263881.3	-	9	927	c.603A>C	c.(601-603)ggA>ggC	p.G201G	RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000341681.5_Silent_p.G201G|MAP4K3_ENST00000536018.1_5'Flank|MAP4K3_ENST00000437545.1_Silent_p.G138G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G201G(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGGCAGTGATTCCCACTGCCC	0.428																																					p.G201G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A603C	2						.						122.0	122.0	122.0					2																	39553346		2203	4300	6503	39406850	SO:0001819	synonymous_variant	8491	exon9			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.603A>C	2.37:g.39553346T>G		Somatic		Capture	Illumina HiSeq	Phase_I	39406850	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	CCDS1803.1																																																																																				0.428	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
TMEM178A	130733	broad.mit.edu	37	2	39934188	39934188	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:39934188G>T	ENST00000281961.2	+	3	570		c.e3-1		TMEM178A_ENST00000482239.1_Splice_Site	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A							integral component of membrane (GO:0016021)		p.?(1)									TTTGAGATTAGATTTAAGAAG	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						75.0	69.0	71.0					2																	39934188		2203	4300	6503	39787692	SO:0001630	splice_region_variant	130733	.			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.515-1G>T	2.37:g.39934188G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39787692	.	Q6UWI6|Q8N6N4	Splice_Site	SNP	ENST00000281961.2	37	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373254	0.82573	.	.	ENSG00000152154	ENST00000281961	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2261	0.82293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM178	39787692	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.818000	0.91991	2.437000	0.82529	0.655000	0.94253	.		0.423	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	Intron
SLC8A1	6546	broad.mit.edu	37	2	40656181	40656181	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:40656181C>A	ENST00000403092.1	-	2	1273	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	SLC8A1_ENST00000405269.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G414W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G414W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G414W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G414W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G414W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G414W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	414	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G414W(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGATATGTCCCTTGTTCAAAG	0.468																																					p.G414W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240T	2						.						111.0	90.0	97.0					2																	40656181		2203	4300	6503	40509685	SO:0001583	missense	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1240G>T	2.37:g.40656181C>A	ENSP00000384763:p.Gly414Trp	Somatic		Capture	Illumina HiSeq	Phase_I	40509685	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077846	0.55753	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.147695	0.64402	D	0.000010	T	0.61652	0.2364	M	0.83384	2.64	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.977;1.0;0.987;0.999;0.996	P;D;P;P;P	0.85130	0.662;0.997;0.76;0.903;0.769	T	0.63274	-0.6674	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	414;414;414;414;414	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	414	ENSP00000383886:G414W;ENSP00000440727:G414W;ENSP00000384763:G414W;ENSP00000385678:G414W;ENSP00000385188:G414W;ENSP00000385535:G414W;ENSP00000332931:G414W;ENSP00000384908:G414W;ENSP00000385811:G414W;ENSP00000443515:G414W	ENSP00000332931:G414W	G	-	1	0	SLC8A1	40509685	0.965000	0.33210	1.000000	0.80357	0.999000	0.98932	2.946000	0.49050	2.941000	0.99782	0.655000	0.94253	GGG		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
SLC8A1	6546	broad.mit.edu	37	2	40656677	40656677	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:40656677G>A	ENST00000403092.1	-	2	777	c.744C>T	c.(742-744)ttC>ttT	p.F248F	SLC8A1_ENST00000405269.1_Silent_p.F248F|SLC8A1_ENST00000406785.2_Silent_p.F248F|SLC8A1_ENST00000408028.2_Silent_p.F248F|SLC8A1_ENST00000332839.4_Silent_p.F248F|SLC8A1_ENST00000402441.1_Silent_p.F248F|SLC8A1_ENST00000406391.2_Silent_p.F248F|SLC8A1_ENST00000542756.1_Silent_p.F248F|SLC8A1_ENST00000405901.3_Silent_p.F248F|SLC8A1_ENST00000542024.1_Silent_p.F248F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	248					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F248F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTACCCAAGCGAACACAACAC	0.443																																					p.F248F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	2						.						80.0	83.0	82.0					2																	40656677		2203	4300	6503	40510181	SO:0001819	synonymous_variant	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.744C>T	2.37:g.40656677G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40510181	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	CCDS1806.1																																																																																				0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
EML4	27436	broad.mit.edu	37	2	42557059	42557059	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:42557059C>A	ENST00000318522.5	+	23	2920	c.2658C>A	c.(2656-2658)gtC>gtA	p.V886V	EML4_ENST00000402711.2_Silent_p.V828V|EML4_ENST00000453191.2_Silent_p.V150V|EML4_ENST00000401738.3_Silent_p.V897V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	886					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.V886V(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAGCCCCCGTCTCTTCCACTG	0.448			T	ALK	NSCLC																																p.V828V			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2484A	2						.						147.0	141.0	143.0					2																	42557059		2203	4300	6503	42410563	SO:0001819	synonymous_variant	27436	exon22			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2658C>A	2.37:g.42557059C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42410563	NM_001145076	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																				0.448	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	
MTA3	57504	broad.mit.edu	37	2	42806293	42806293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:42806293G>A	ENST00000405094.1	+	3	143	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	MTA3_ENST00000406911.1_Missense_Mutation_p.R48Q|MTA3_ENST00000405592.1_5'UTR|MTA3_ENST00000407270.3_Missense_Mutation_p.R48Q|MTA3_ENST00000406652.1_5'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	48	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R48Q(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTTTATAGACGACGTGATATT	0.323																																					p.R48Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143A	2						.						76.0	66.0	70.0					2																	42806293		1857	4090	5947	42659797	SO:0001583	missense	57504	exon3			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.143G>A	2.37:g.42806293G>A	ENSP00000385823:p.Arg48Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42659797	NM_020744	Q9NSP2|Q9ULF4	5'UTR	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.265557	0.80358	.	.	ENSG00000057935	ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T	0.52983	0.69;0.7;0.64	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.76574	2.34	0.36891	D	0.889895	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.948	T	0.75827	-0.3180	10	0.72032	D	0.01	-14.9552	14.0001	0.64429	0.0:0.0:1.0:0.0	.	48;48	E7EQY4;Q9BTC8-2	.;.	Q	48	ENSP00000385045:R48Q;ENSP00000385241:R48Q;ENSP00000385823:R48Q	ENSP00000282366:R48Q	R	+	2	0	MTA3	42659797	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.263000	0.89864	2.275000	0.75901	0.462000	0.41574	CGA		0.323	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744	
THADA	63892	broad.mit.edu	37	2	43655375	43655375	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:43655375A>C	ENST00000405006.4	-	28	4278				THADA_ENST00000485353.1_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Intron|THADA_ENST00000415080.2_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated									p.?(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATATCACTGAAACAACAATTA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						76.0	75.0	75.0					2																	43655375		1971	4146	6117	43508879	SO:0001627	intron_variant	63892	.			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3927-5T>G	2.37:g.43655375A>C		Somatic		Capture	Illumina HiSeq	Phase_I	43508879	.	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Intron	SNP	ENST00000405006.4	37	CCDS46268.1																																																																																				0.403	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
THADA	63892	broad.mit.edu	37	2	43801632	43801632	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:43801632C>A	ENST00000405006.4	-	11	1923	c.1572G>T	c.(1570-1572)gaG>gaT	p.E524D	THADA_ENST00000403856.1_Missense_Mutation_p.E524D|THADA_ENST00000330266.7_Missense_Mutation_p.E234D|THADA_ENST00000405975.2_Missense_Mutation_p.E524D|THADA_ENST00000415080.2_Missense_Mutation_p.E234D|THADA_ENST00000402360.2_Missense_Mutation_p.E524D|THADA_ENST00000404790.1_Missense_Mutation_p.E524D	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	524								p.E524D(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAACCCAAGTCTCATGCCACT	0.373																																					p.E524D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1572T	2						.						54.0	54.0	54.0					2																	43801632		1847	4095	5942	43655136	SO:0001583	missense	63892	exon11			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1572G>T	2.37:g.43801632C>A	ENSP00000385995:p.Glu524Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43655136	NM_022065	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962687	0.34659	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65364	1.39;1.39;1.39;1.39;-0.15;-0.15;1.39	5.94	1.88	0.25563	Armadillo-type fold (1);	0.180890	0.48767	D	0.000167	T	0.46658	0.1404	L	0.39633	1.23	0.27841	N	0.941093	B;B;B;B;B	0.29188	0.127;0.058;0.146;0.09;0.236	B;B;B;B;B	0.27887	0.084;0.022;0.076;0.021;0.031	T	0.31998	-0.9923	10	0.32370	T	0.25	-0.6306	7.2134	0.25947	0.0:0.5405:0.2217:0.2379	.	524;524;524;234;524	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	D	234;524;524;234;524;524;524;524	ENSP00000331105:E234D;ENSP00000386088:E524D;ENSP00000416048:E234D;ENSP00000385995:E524D;ENSP00000385441:E524D;ENSP00000384266:E524D;ENSP00000385469:E524D	ENSP00000331105:E234D	E	-	3	2	THADA	43655136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.476000	0.35420	0.383000	0.24910	0.561000	0.74099	GAG		0.373	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
PLEKHH2	130271	broad.mit.edu	37	2	43903257	43903257	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:43903257G>A	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						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)				CAGAAAACACGAATACTTTTA	0.433																																					p.R69C												.	.	0			c.C205T	2						.						96.0	94.0	94.0					2																	43903257		1936	4150	6086	43756761	SO:0001627	intron_variant	728819	exon1			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.124-2745G>A	2.37:g.43903257G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43756761	NM_001101330	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																				0.433	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PLEKHH2	130271	broad.mit.edu	37	2	43937159	43937159	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:43937159G>T	ENST00000282406.4	+	12	2107	c.1997G>T	c.(1996-1998)aGt>aTt	p.S666I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	666	Ser-rich.				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)	p.S666I(1)		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)				GCTTCTGAAAGTGATTATGCT	0.463																																					p.S666I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1997T	2						.						176.0	169.0	171.0					2																	43937159		2203	4300	6503	43790663	SO:0001583	missense	130271	exon12			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.1997G>T	2.37:g.43937159G>T	ENSP00000282406:p.Ser666Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43790663	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.941910	0.53079	.	.	ENSG00000152527	ENST00000282406	T	0.75367	-0.93	5.23	3.4	0.38934	.	0.357463	0.33732	N	0.004607	T	0.72228	0.3434	L	0.36672	1.1	0.44012	D	0.996723	P;P;P	0.49783	0.628;0.573;0.928	B;B;P	0.51385	0.444;0.165;0.668	T	0.75068	-0.3448	10	0.87932	D	0	-3.1479	11.7293	0.51726	0.1459:0.0:0.8541:0.0	.	666;103;666	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	I	666	ENSP00000282406:S666I	ENSP00000282406:S666I	S	+	2	0	PLEKHH2	43790663	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	5.364000	0.66110	1.190000	0.43042	0.563000	0.77884	AGT		0.463	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DYNC2LI1	51626	broad.mit.edu	37	2	44023859	44023859	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:44023859T>G	ENST00000260605.8	+	8	679	c.579T>G	c.(577-579)gaT>gaG	p.D193E	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D194E|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D67E	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	193					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.D193E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCTACAGGATTTTGAGTCTG	0.284																																					p.D193E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T579G	2						.						104.0	102.0	103.0					2																	44023859		2203	4300	6503	43877363	SO:0001583	missense	51626	exon8				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.579T>G	2.37:g.44023859T>G	ENSP00000260605:p.Asp193Glu	Somatic		Capture	Illumina HiSeq	Phase_I	43877363	NM_016008	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.434122|1.434122	0.25813|0.25813	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.12361|.	2.69;2.69|.	5.13|5.13	2.81|2.81	0.32909|0.32909	.|.	0.233133|.	0.44688|.	D|.	0.000439|.	T|T	0.37892|0.37892	0.1020|0.1020	L|L	0.31120|0.31120	0.905|0.905	0.41065|0.41065	D|D	0.985408|0.985408	B;B;B|.	0.16166|.	0.016;0.009;0.016|.	B;B;B|.	0.17979|.	0.02;0.009;0.02|.	T|T	0.14868|0.14868	-1.0457|-1.0457	10|5	0.15499|.	T|.	0.54|.	-20.5269|-20.5269	1.8915|1.8915	0.03249|0.03249	0.1267:0.1571:0.1472:0.569|0.1267:0.1571:0.1472:0.569	.|.	194;193;193|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	E|S	193;67|177	ENSP00000260605:D193E;ENSP00000388941:D67E|.	ENSP00000260605:D193E|.	D|I	+|+	3|2	2|0	DYNC2LI1|DYNC2LI1	43877363|43877363	0.922000|0.922000	0.31269|0.31269	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	-0.150000|-0.150000	0.10189|0.10189	0.451000|0.451000	0.26802|0.26802	0.528000|0.528000	0.53228|0.53228	GAT|ATT		0.284	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
DYNC2LI1	51626	broad.mit.edu	37	2	44028834	44028834	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:44028834C>A	ENST00000260605.8	+	10	888	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.S264Y|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.S137Y	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.S263Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGATTGGATTCTTTCGGTCAA	0.328																																					p.S263Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788A	2						.						99.0	96.0	97.0					2																	44028834		2203	4300	6503	43882338	SO:0001583	missense	51626	exon10				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.788C>A	2.37:g.44028834C>A	ENSP00000260605:p.Ser263Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43882338	NM_016008	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.051333|4.051333	0.75960|0.75960	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000378587|ENST00000260605;ENST00000443170	.|T;T	.|0.30714	.|1.52;1.52	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63640|0.63640	0.2528|0.2528	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.99;0.996	T|T	0.69124|0.69124	-0.5228|-0.5228	5|10	.|0.87932	.|D	.|0	-15.1185|-15.1185	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264;263;263	.|Q8TCX1-2;Q8TCX1;Q8TCX1-3	.|.;DC2L1_HUMAN;.	I|Y	247|263;137	.|ENSP00000260605:S263Y;ENSP00000388941:S137Y	.|ENSP00000260605:S263Y	L|S	+|+	1|2	0|0	DYNC2LI1|DYNC2LI1	43882338|43882338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.808000|5.808000	0.69165|0.69165	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.328	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
ABCG8	64241	broad.mit.edu	37	2	44073388	44073388	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:44073388G>A	ENST00000272286.2	+	3	350	c.260G>A	c.(259-261)gGc>gAc	p.G87D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	87	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.G87D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGTGAGCTGGGCATCCAGAAC	0.552																																					p.G87D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	2						.						68.0	65.0	66.0					2																	44073388		2203	4300	6503	43926892	SO:0001583	missense	64241	exon3			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.260G>A	2.37:g.44073388G>A	ENSP00000272286:p.Gly87Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43926892	NM_022437	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938290	0.52972	.	.	ENSG00000143921	ENST00000272286	D	0.87887	-2.31	5.69	3.76	0.43208	ABC transporter-like (1);	0.300219	0.35805	N	0.002977	D	0.84938	0.5583	L	0.36672	1.1	0.35308	D	0.783593	D;D	0.59357	0.985;0.974	P;P	0.53809	0.735;0.548	D	0.87560	0.2471	10	0.72032	D	0.01	.	8.099	0.30846	0.0:0.3401:0.4354:0.2245	.	87;87	Q9H221-2;Q9H221	.;ABCG8_HUMAN	D	87	ENSP00000272286:G87D	ENSP00000272286:G87D	G	+	2	0	ABCG8	43926892	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	3.396000	0.52565	2.684000	0.91462	0.650000	0.86243	GGC		0.552	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
ABCG8	64241	broad.mit.edu	37	2	44102444	44102444	+	Missense_Mutation	SNP	G	G	A	rs149441561	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:44102444G>A	ENST00000272286.2	+	11	1738	c.1648G>A	c.(1648-1650)Gcg>Acg	p.A550T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.A550T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCTGGCCGCCGCGGCCCTGCT	0.617																																					p.A550T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1648A	2						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67.0	66.0	66.0		1648	-0.5	0.0	2	dbSNP_134	66	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ABCG8	NM_022437.2	58	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	possibly-damaging	550/674	44102444	6,13000	2203	4300	6503	43955948	SO:0001583	missense	64241	exon11			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1648G>A	2.37:g.44102444G>A	ENSP00000272286:p.Ala550Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43955948	NM_022437	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035195	0.19590	2.27E-4	5.81E-4	ENSG00000143921	ENST00000272286	T	0.75260	-0.92	4.73	-0.474	0.12108	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.66499	0.2795	M	0.65975	2.015	0.21473	N	0.999675	P;D	0.53745	0.953;0.962	B;B	0.43754	0.304;0.43	T	0.61964	-0.6954	10	0.72032	D	0.01	.	3.8594	0.08990	0.0883:0.115:0.3102:0.4865	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	T	550	ENSP00000272286:A550T	ENSP00000272286:A550T	A	+	1	0	ABCG8	43955948	0.944000	0.32072	0.000000	0.03702	0.000000	0.00434	2.099000	0.41767	-0.310000	0.08766	-0.502000	0.04539	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
PREPL	9581	broad.mit.edu	37	2	44586756	44586756	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:44586756G>A	ENST00000409936.1	-	2	536	c.99C>T	c.(97-99)ttC>ttT	p.F33F	PREPL_ENST00000409411.1_Intron|PREPL_ENST00000378511.3_Silent_p.F33F|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000410081.1_Silent_p.F33F|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000260648.6_Silent_p.F33F|PREPL_ENST00000540817.1_Intron|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000378520.3_Silent_p.F33F|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409272.1_Silent_p.F33F|CAMKMT_ENST00000407131.1_5'Flank	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	33						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.F33F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATGATCAGCGAAGTTATAGT	0.343																																					p.F33F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	2						.						132.0	131.0	132.0					2																	44586756		2203	4300	6503	44440260	SO:0001819	synonymous_variant	9581	exon1			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.99C>T	2.37:g.44586756G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44440260	NM_001042385	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	CCDS33190.1																																																																																				0.343	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036	
SIX2	10736	broad.mit.edu	37	2	45233535	45233535	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:45233535G>A	ENST00000303077.6	-	2	969	c.650C>T	c.(649-651)aCt>aTt	p.T217I		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	217					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T217I(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCCCGATGGAGTCTTCTCATC	0.642																																					p.T217I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	2						.						117.0	116.0	116.0					2																	45233535		2203	4300	6503	45087039	SO:0001583	missense	10736	exon2			AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.650C>T	2.37:g.45233535G>A	ENSP00000304502:p.Thr217Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45087039	NM_016932	Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969006	0.74131	.	.	ENSG00000170577	ENST00000303077	D	0.89415	-2.51	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	N	0.14661	0.345	0.80722	D	1	P;P	0.42827	0.627;0.791	B;B	0.29785	0.107;0.107	T	0.80155	-0.1500	10	0.35671	T	0.21	-16.2903	17.9609	0.89085	0.0:0.0:1.0:0.0	.	217;217	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	I	217	ENSP00000304502:T217I	ENSP00000304502:T217I	T	-	2	0	SIX2	45087039	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.352000	0.97076	2.224000	0.72417	0.462000	0.41574	ACT		0.642	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2		
SRBD1	55133	broad.mit.edu	37	2	45800336	45800336	+	Intron	SNP	C	C	A	rs532604637		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:45800336C>A	ENST00000263736.4	-	9	1368					NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1						nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CATGCAGTTTCTTTATTTACC	0.303													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16811	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						90.0	89.0	90.0					2																	45800336		2203	4300	6503	45653840	SO:0001627	intron_variant	55133	.			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1305+9G>T	2.37:g.45800336C>A		Somatic		Capture	Illumina HiSeq	Phase_I	45653840	.	Q53T56|Q96TA4|Q9NW11	Intron	SNP	ENST00000263736.4	37	CCDS1823.1																																																																																				0.303	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
SRBD1	55133	broad.mit.edu	37	2	45812774	45812774	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:45812774T>A	ENST00000263736.4	-	5	850	c.788A>T	c.(787-789)gAa>gTa	p.E263V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	263					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.E263V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGCTGAACTTCTCTCAAGGA	0.378																																					p.E263V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A788T	2						.						118.0	116.0	116.0					2																	45812774		2203	4300	6503	45666278	SO:0001583	missense	55133	exon5			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.788A>T	2.37:g.45812774T>A	ENSP00000263736:p.Glu263Val	Somatic		Capture	Illumina HiSeq	Phase_I	45666278	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060322	0.76074	.	.	ENSG00000068784	ENST00000263736	T	0.46819	0.86	5.04	5.04	0.67666	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.227117	0.35805	N	0.002979	T	0.60340	0.2261	M	0.79258	2.445	0.80722	D	1	P	0.49559	0.925	P	0.50825	0.651	T	0.67015	-0.5777	10	0.66056	D	0.02	.	14.6045	0.68466	0.0:0.0:0.0:1.0	.	263	Q8N5C6	SRBD1_HUMAN	V	263	ENSP00000263736:E263V	ENSP00000263736:E263V	E	-	2	0	SRBD1	45666278	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.528000	0.73807	2.113000	0.64589	0.455000	0.32223	GAA		0.378	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
SRBD1	55133	broad.mit.edu	37	2	45826675	45826675	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:45826675C>A	ENST00000263736.4	-	4	623	c.561G>T	c.(559-561)gaG>gaT	p.E187D		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	187					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.E187D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAGGATATGTCTCAGTCTTGA	0.458																																					p.E187D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561T	2						.						247.0	237.0	240.0					2																	45826675		2203	4300	6503	45680179	SO:0001583	missense	55133	exon4			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.561G>T	2.37:g.45826675C>A	ENSP00000263736:p.Glu187Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45680179	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	5.853	0.341599	0.11069	.	.	ENSG00000068784	ENST00000263736	T	0.23147	1.92	5.86	3.38	0.38709	.	0.433345	0.21577	N	0.072311	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.17961	-1.0352	10	0.45353	T	0.12	.	5.0027	0.14273	0.0:0.1664:0.1555:0.6781	.	187	Q8N5C6	SRBD1_HUMAN	D	187	ENSP00000263736:E187D	ENSP00000263736:E187D	E	-	3	2	SRBD1	45680179	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	0.472000	0.22116	0.496000	0.27904	-0.332000	0.08345	GAG		0.458	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
EPAS1	2034	broad.mit.edu	37	2	46574157	46574157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:46574157C>T	ENST00000263734.3	+	2	682	c.172C>T	c.(172-174)Cga>Tga	p.R58*	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	58	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R58*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCATCATGCGACTGGCAAT	0.607																																					p.R58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C172T	2						.						132.0	117.0	122.0					2																	46574157		2203	4300	6503	46427661	SO:0001587	stop_gained	2034	exon2			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.172C>T	2.37:g.46574157C>T	ENSP00000263734:p.Arg58*	Somatic		Capture	Illumina HiSeq	Phase_I	46427661	NM_001430	Q86VA2|Q99630	Nonsense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854846	0.98528	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1949	0.89818	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	.	R	+	1	2	EPAS1	46427661	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.971000	0.56831	2.521000	0.84997	0.561000	0.74099	CGA		0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
EPAS1	2034	broad.mit.edu	37	2	46605835	46605835	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:46605835G>A	ENST00000263734.3	+	11	1993	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	495					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.D495N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGGATAACGACCTGAAGAT	0.522																																					p.D495N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1483A	2						.						146.0	137.0	140.0					2																	46605835		2203	4300	6503	46459339	SO:0001583	missense	2034	exon11			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1483G>A	2.37:g.46605835G>A	ENSP00000263734:p.Asp495Asn	Somatic		Capture	Illumina HiSeq	Phase_I	46459339	NM_001430	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272522	0.40194	.	.	ENSG00000116016	ENST00000263734	T	0.52057	0.68	5.54	1.09	0.20402	.	0.669254	0.15978	N	0.235430	T	0.44286	0.1286	M	0.73217	2.22	0.41988	D	0.99083	B	0.24721	0.11	B	0.22601	0.04	T	0.42766	-0.9432	10	0.62326	D	0.03	.	8.7043	0.34345	0.2156:0.1163:0.6681:0.0	.	495	Q99814	EPAS1_HUMAN	N	495	ENSP00000263734:D495N	ENSP00000263734:D495N	D	+	1	0	EPAS1	46459339	1.000000	0.71417	0.428000	0.26697	0.345000	0.29048	4.753000	0.62183	0.289000	0.22422	-0.157000	0.13467	GAC		0.522	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
CRIPT	9419	broad.mit.edu	37	2	46851296	46851296	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:46851296T>G	ENST00000238892.3	+	5	373				CRIPT_ENST00000486447.1_Intron	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein						cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)	p.?(1)		kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TCTTCTTTTGTTTCAGGCATC	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						76.0	79.0	78.0					2																	46851296		2203	4299	6502	46704800	SO:0001627	intron_variant	9419	.			AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.242-6T>G	2.37:g.46851296T>G		Somatic		Capture	Illumina HiSeq	Phase_I	46704800	.		Intron	SNP	ENST00000238892.3	37	CCDS1829.1																																																																																				0.333	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171	
SOCS5	9655	broad.mit.edu	37	2	46986132	46986132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:46986132C>T	ENST00000306503.5	+	2	635	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R155C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	155					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.R155C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAGAGAGAGGCGCTACGGCGT	0.463																																					p.R155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	2						.						76.0	72.0	73.0					2																	46986132		2203	4300	6503	46839636	SO:0001583	missense	9655	exon2			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.463C>T	2.37:g.46986132C>T	ENSP00000305133:p.Arg155Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46839636	NM_014011	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542140	0.45280	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.36699	1.24;1.24	5.31	5.31	0.75309	.	0.055265	0.64402	D	0.000001	T	0.47581	0.1453	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44221	-0.9342	10	0.87932	D	0	-18.2638	11.722	0.51688	0.2867:0.7133:0.0:0.0	.	155	O75159	SOCS5_HUMAN	C	155	ENSP00000305133:R155C;ENSP00000378330:R155C	ENSP00000305133:R155C	R	+	1	0	SOCS5	46839636	1.000000	0.71417	0.987000	0.45799	0.607000	0.37147	3.651000	0.54431	2.770000	0.95276	0.655000	0.94253	CGC		0.463	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
MSH2	4436	broad.mit.edu	37	2	47693935	47693935	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:47693935A>C	ENST00000233146.2	+	10	1872	c.1649A>C	c.(1648-1650)aAa>aCa	p.K550T	MSH2_ENST00000406134.1_Missense_Mutation_p.K550T|MSH2_ENST00000543555.1_Missense_Mutation_p.K484T	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	550					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.K550T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGGTGTTAAATTTACCAAC	0.308			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K550T		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|prostate(1)	c.A1649C	2						.						71.0	79.0	77.0					2																	47693935		2202	4300	6502	47547439	SO:0001583	missense	4436	exon10	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1649A>C	2.37:g.47693935A>C	ENSP00000233146:p.Lys550Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47547439	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318657	0.60524	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.89810	-2.57;-2.57;-2.57	6.04	4.9	0.64082	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.045322	0.85682	D	0.000000	D	0.92195	0.7525	M	0.79123	2.44	0.50313	D	0.999862	D;D;P	0.69078	0.997;0.958;0.875	D;P;P	0.65140	0.932;0.762;0.809	D	0.89672	0.3884	10	0.20046	T	0.44	-27.7403	9.0682	0.36475	0.8608:0.0:0.1392:0.0	.	484;550;550	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	T	550;484;550;550;336	ENSP00000233146:K550T;ENSP00000442697:K484T;ENSP00000384199:K550T	ENSP00000233146:K550T	K	+	2	0	MSH2	47547439	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	1.120000	0.41904	0.460000	0.39030	AAA		0.308	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	broad.mit.edu	37	2	48027958	48027958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:48027958G>T	ENST00000234420.5	+	4	2988	c.2836G>T	c.(2836-2838)Gaa>Taa	p.E946*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E644*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E816*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	946					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.E946*(3)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGACATAAGAGAAAATGAACA	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E946X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	MSH6,endometrium,NS,Substitution - Nonsense,0 	.	5	Substitution - Nonsense(3)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(1)	c.G2836T	2						.						45.0	45.0	45.0					2																	48027958		2203	4300	6503	47881462	SO:0001587	stop_gained	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2836G>T	2.37:g.48027958G>T	ENSP00000234420:p.Glu946*	Somatic		Capture	Illumina HiSeq	Phase_I	47881462	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	44	11.208734	0.99531	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.61	5.61	0.85477	.	0.538247	0.21758	N	0.069578	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.2924	9.5439	0.39268	0.194:0.0:0.806:0.0	.	.	.	.	X	946;944;816;644	.	ENSP00000234420:E946X	E	+	1	0	MSH6	47881462	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	1.916000	0.39986	2.634000	0.89283	0.563000	0.77884	GAA		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48033753	48033753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:48033753G>T	ENST00000234420.5	+	9	4116	c.3964G>T	c.(3964-3966)Gaa>Taa	p.E1322*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E1020*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1192*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1322					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.E1322*(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAAGCAAGAGAATTTGAGAA	0.343			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E1322X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	4	Substitution - Nonsense(2)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.G3964T	2						.						49.0	51.0	50.0					2																	48033753		2203	4300	6503	47887257	SO:0001587	stop_gained	2956	exon9	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3964G>T	2.37:g.48033753G>T	ENSP00000234420:p.Glu1322*	Somatic		Capture	Illumina HiSeq	Phase_I	47887257	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	46	12.222035	0.99648	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	6.03	5.12	0.69794	.	0.044936	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-22.7694	17.4293	0.87535	0.0:0.1238:0.8762:0.0	.	.	.	.	X	1322;286;1192;1020	.	ENSP00000234420:E1322X	E	+	1	0	MSH6	47887257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.861000	0.98227	0.655000	0.94253	GAA		0.343	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
GTF2A1L	11036	broad.mit.edu	37	2	48848035	48848035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:48848035C>T	ENST00000403751.3	+	2	104	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R727W|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R727W|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R727W|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R727W|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R727W	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	23					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R727W(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGGAGTTCGGAATCTATT	0.289																																					p.R23W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	2						.						57.0	58.0	58.0					2																	48848035		2203	4298	6501	48701539	SO:0001583	missense	286749	exon2			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.67C>T	2.37:g.48848035C>T	ENSP00000384597:p.Arg23Trp	Somatic		Capture	Illumina HiSeq	Phase_I	48701539	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805360	0.50315	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000403751	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.7	3.81	0.43845	Transcription factor IIA, alpha subunit, N-terminal (1);Transcription factor IIA, helical (1);	0.144326	0.45126	D	0.000384	T	0.78780	0.4337	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.97110	0.893;0.928;1.0;0.928	T	0.81662	-0.0831	10	0.87932	D	0	.	11.6775	0.51438	0.3218:0.6782:0.0:0.0	.	727;727;23;727	A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	W	727;727;727;727;727;22;23;23	ENSP00000385499:R727W;ENSP00000385701:R727W;ENSP00000378236:R727W;ENSP00000311493:R727W;ENSP00000378234:R727W;ENSP00000396702:R23W;ENSP00000384597:R23W	ENSP00000384597:R23W	R	+	1	2	STON1-GTF2A1L;GTF2A1L	48701539	0.247000	0.23920	0.964000	0.40570	0.453000	0.32348	0.700000	0.25601	1.328000	0.45358	0.561000	0.74099	CGG		0.289	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
GTF2A1L	11036	broad.mit.edu	37	2	48873645	48873645	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:48873645G>T	ENST00000403751.3	+	6	479	c.442G>T	c.(442-444)Gca>Tca	p.A148S	LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.A114S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.A852S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.A852S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.A852S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.A852S|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.A805S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	148					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A852S(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCTGGAAGAGCAGGTATTCT	0.353																																					p.A148S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	2						.						91.0	90.0	91.0					2																	48873645		2203	4300	6503	48727149	SO:0001583	missense	286749	exon6			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.442G>T	2.37:g.48873645G>T	ENSP00000384597:p.Ala148Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48727149	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956045	0.34471	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.82	0.709	0.18150	.	0.333009	0.29225	N	0.012769	T	0.36853	0.0982	M	0.62723	1.935	0.09310	N	1	B;B;P;B;B	0.36683	0.073;0.084;0.565;0.09;0.166	B;B;B;B;B	0.38803	0.053;0.021;0.282;0.089;0.077	T	0.22941	-1.0202	10	0.51188	T	0.08	.	6.3554	0.21398	0.2632:0.127:0.6097:0.0	.	114;805;852;148;852	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	S	852;852;852;852;805;147;114;157;114;148	ENSP00000385499:A852S;ENSP00000385701:A852S;ENSP00000378236:A852S;ENSP00000311493:A852S;ENSP00000378234:A805S;ENSP00000412645:A114S;ENSP00000396702:A157S;ENSP00000387896:A114S;ENSP00000384597:A148S	ENSP00000384597:A148S	A	+	1	0	STON1-GTF2A1L;GTF2A1L	48727149	0.021000	0.18746	0.013000	0.15412	0.707000	0.40811	0.140000	0.16056	-0.147000	0.11254	0.591000	0.81541	GCA		0.353	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
FSHR	2492	broad.mit.edu	37	2	49189991	49189991	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:49189991C>T	ENST00000406846.2	-	10	2088	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	FSHR_ENST00000304421.4_Missense_Mutation_p.E631K|FSHR_ENST00000541117.1_Missense_Mutation_p.E393K|FSHR_ENST00000346173.3_Missense_Mutation_p.E595K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	657					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E657K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GATGAAGTTTCTGTCCTATAA	0.458									Gonadal Dysgenesis, 46 XX																												p.E631K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1891A	2						.						108.0	105.0	106.0					2																	49189991		2203	4300	6503	49043495	SO:0001583	missense	2492	exon9	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1969G>A	2.37:g.49189991C>T	ENSP00000384708:p.Glu657Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49043495	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102649	0.37145	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.72167	-0.47;-0.59;-0.45;-0.63	5.35	4.47	0.54385	.	0.108238	0.64402	N	0.000007	T	0.80265	0.4591	L	0.57130	1.785	0.51767	D	0.999936	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.991	T	0.79895	-0.1610	9	.	.	.	.	13.3085	0.60365	0.0:0.9247:0.0:0.0753	.	631;595;657	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	657;595;631;393	ENSP00000384708:E657K;ENSP00000333908:E595K;ENSP00000306780:E631K;ENSP00000444172:E393K	.	E	-	1	0	FSHR	49043495	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	3.810000	0.55613	1.630000	0.50440	0.655000	0.94253	GAA		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
NRXN1	9378	broad.mit.edu	37	2	50723166	50723166	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:50723166G>T	ENST00000406316.2	-	15	4423	c.2947C>A	c.(2947-2949)Ctc>Atc	p.L983I	NRXN1_ENST00000401669.2_Missense_Mutation_p.L983I|NRXN1_ENST00000401710.1_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.L975I|NRXN1_ENST00000404971.1_Missense_Mutation_p.L1023I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.L983I|NRXN1_ENST00000402717.3_Missense_Mutation_p.L975I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	983	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.L1024I(1)|p.L983I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTCATTGAGAGGTTTATTT	0.428																																					p.L1023I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3067A	2						.						136.0	121.0	126.0					2																	50723166		1995	4184	6179	50576670	SO:0001583	missense	9378	exon16			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2947C>A	2.37:g.50723166G>T	ENSP00000384311:p.Leu983Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50576670	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898216	0.72639	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	L	0.56199	1.76	0.35347	D	0.786996	D;P;D	0.60160	0.987;0.622;0.972	P;P;P	0.56398	0.797;0.65;0.734	D	0.86907	0.2058	10	0.72032	D	0.01	.	9.4829	0.38911	0.1569:0.0:0.8431:0.0	.	1023;983;975	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	1023;983;975;983;1024;975;983	ENSP00000385142:L1023I;ENSP00000384311:L983I;ENSP00000434015:L975I;ENSP00000385017:L983I;ENSP00000385434:L975I;ENSP00000385681:L983I	ENSP00000385017:L983I	L	-	1	0	NRXN1	50576670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	2.731000	0.93534	0.655000	0.94253	CTC		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50724612	50724612	+	Missense_Mutation	SNP	G	G	A	rs77454382		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:50724612G>A	ENST00000406316.2	-	14	4214	c.2738C>T	c.(2737-2739)tCg>tTg	p.S913L	NRXN1_ENST00000401669.2_Missense_Mutation_p.S913L|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000405472.3_Missense_Mutation_p.S905L|NRXN1_ENST00000404971.1_Missense_Mutation_p.S953L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.S913L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S905L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	913	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S913L(1)|p.S954L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AACATAGCTCGATTTGGTCTT	0.398																																					p.S953L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2858T	2						.						132.0	122.0	125.0					2																	50724612		1964	4179	6143	50578116	SO:0001583	missense	9378	exon15			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2738C>T	2.37:g.50724612G>A	ENSP00000384311:p.Ser913Leu	Somatic		Capture	Illumina HiSeq	Phase_I	50578116	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578591	0.86645	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.58	5.58	0.84498	.	0.186918	0.48286	D	0.000185	T	0.80308	0.4599	L	0.46885	1.475	0.32644	N	0.52027	P;D;P	0.53462	0.856;0.96;0.5	P;B;B	0.45377	0.478;0.302;0.137	D	0.84483	0.0606	10	0.59425	D	0.04	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	953;913;905	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	953;913;905;913;954;905;913	ENSP00000385142:S953L;ENSP00000384311:S913L;ENSP00000434015:S905L;ENSP00000385017:S913L;ENSP00000385434:S905L;ENSP00000385681:S913L	ENSP00000385017:S913L	S	-	2	0	NRXN1	50578116	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	6.358000	0.73055	2.906000	0.99361	0.655000	0.94253	TCG		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50724859	50724859	+	Intron	SNP	G	G	T	rs369071366		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:50724859G>T	ENST00000406316.2	-	14	3974				NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.?(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGACCTAAAAGAGAAGATAAT	0.383																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						64.0	59.0	60.0					2																	50724859		1865	4092	5957	50578363	SO:0001627	intron_variant	9378	.			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2498-7C>A	2.37:g.50724859G>T		Somatic		Capture	Illumina HiSeq	Phase_I	50578363	.	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Intron	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.383	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50758479	50758479	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:50758479G>A	ENST00000406316.2	-	11	3709	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	NRXN1_ENST00000401669.2_Missense_Mutation_p.R745W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R737W|NRXN1_ENST00000404971.1_Missense_Mutation_p.R785W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.R745W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R737W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	745	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R745W(1)|p.R786W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATCGGAACCGTAAGGAAACA	0.512																																					p.R785W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2353T	2						.						67.0	71.0	69.0					2																	50758479		2059	4232	6291	50611983	SO:0001583	missense	9378	exon12			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2233C>T	2.37:g.50758479G>A	ENSP00000384311:p.Arg745Trp	Somatic		Capture	Illumina HiSeq	Phase_I	50611983	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173020	0.78452	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.76	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.88775	2.98	0.41110	D	0.985736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90677	0.4602	10	0.59425	D	0.04	.	21.0033	0.99943	0.0:0.0:0.2528:0.7472	.	785;745;737	Q9ULB1-3;F8WB18;A7E294	.;.;.	W	785;745;737;745;786;737;745	ENSP00000385142:R785W;ENSP00000384311:R745W;ENSP00000434015:R737W;ENSP00000385017:R745W;ENSP00000385434:R737W;ENSP00000385681:R745W	ENSP00000385017:R745W	R	-	1	2	NRXN1	50611983	0.979000	0.34478	0.601000	0.28877	0.932000	0.56968	1.712000	0.37940	-0.453000	0.07076	-0.274000	0.10170	CGG		0.512	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927397	53927397	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:53927397G>T	ENST00000263634.3	-	8	1373				ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GACTATGGTAGAATTTCTTAC	0.398																																					.												.	.	0			.	2						.						88.0	89.0	89.0					2																	53927397		2203	4300	6503	53780901	SO:0001627	intron_variant	51130	.				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1238+10C>A	2.37:g.53927397G>T		Somatic		Capture	Illumina HiSeq	Phase_I	53780901	.		Intron	SNP	ENST00000263634.3	37	CCDS1846.1																																																																																				0.398	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		
ERLEC1	27248	broad.mit.edu	37	2	54036356	54036356	+	Silent	SNP	C	C	T	rs149092437		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:54036356C>T	ENST00000185150.4	+	10	1178	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Silent_p.V349V|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.V295V|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	349	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.V349V(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTTAGGGTGTCGGTTGGTGGA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.0		0.001	False		,,,				2504	0.0				p.V349V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	2						.	C	,,,	0,4406		0,0,2203	84.0	88.0	87.0		1047,885,,1047	1.6	1.0	2	dbSNP_134	87	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	ERLEC1,GPR75-ASB3	NM_001127397.2,NM_001127398.2,NM_001164165.1,NM_015701.4	,,,	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,,,	349/458,295/430,,349/484	54036356	2,12996	2203	4296	6499	53889860	SO:0001819	synonymous_variant	27248	exon10			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1047C>T	2.37:g.54036356C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53889860	NM_001127397	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	CCDS1848.1																																																																																				0.313	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	
ERLEC1	27248	broad.mit.edu	37	2	54041669	54041669	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:54041669C>A	ENST00000185150.4	+	12	1357				GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTGTGTGTTTCTCTGATTCAG	0.328																																					.												.	.	0			.	2						.						69.0	72.0	71.0					2																	54041669		2203	4298	6501	53895173	SO:0001627	intron_variant	51130	.			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1227-11C>A	2.37:g.54041669C>A		Somatic		Capture	Illumina HiSeq	Phase_I	53895173	.	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Intron	SNP	ENST00000185150.4	37	CCDS1848.1																																																																																				0.328	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	
GPR75	10936	broad.mit.edu	37	2	54081162	54081162	+	Silent	SNP	G	G	A	rs559738797		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:54081162G>A	ENST00000394705.2	-	2	1002	c.732C>T	c.(730-732)gtC>gtT	p.V244V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	244					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.V244V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAAGCATCGACTGTGATTA	0.532													g|||	1	0.000199681	0.0	0.0	5008	,	,		21270	0.0		0.0	False		,,,				2504	0.001				p.V244V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732T	2						.						87.0	90.0	89.0					2																	54081162		2203	4300	6503	53934666	SO:0001819	synonymous_variant	10936	exon2			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.732C>T	2.37:g.54081162G>A		Somatic		Capture	Illumina HiSeq	Phase_I	53934666	NM_006794	B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	CCDS1849.1																																																																																				0.532	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2		
SPTBN1	6711	broad.mit.edu	37	2	54786007	54786007	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:54786007G>T	ENST00000356805.4	+	2	429				SPTBN1_ENST00000333896.5_Missense_Mutation_p.R31I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R31I(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTGGAAGGCAGATTCAAGCAG	0.587																																					p.R31I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92T	2						.						63.0	65.0	65.0					2																	54786007		2203	4300	6503	54639511	SO:0001627	intron_variant	6711	exon1				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+32304G>T	2.37:g.54786007G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54639511	NM_178313	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750644	0.89753	.	.	ENSG00000115306	ENST00000333896	D	0.95342	-3.68	5.42	5.42	0.78866	.	.	.	.	.	D	0.97483	0.9176	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98025	1.0373	8	0.87932	D	0	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	31	Q01082-3	.	I	31	ENSP00000334156:R31I	ENSP00000334156:R31I	R	+	2	0	SPTBN1	54639511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.843000	0.75384	2.537000	0.85549	0.561000	0.74099	AGA		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SPTBN1	6711	broad.mit.edu	37	2	54858241	54858241	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:54858241G>A	ENST00000356805.4	+	16	3338	c.3057G>A	c.(3055-3057)gcG>gcA	p.A1019A	SPTBN1_ENST00000333896.5_Silent_p.A1006A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1019					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A1006A(1)|p.A1019A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGAAGGAGGCGGAGAAGCTGG	0.632																																					p.A1006A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3018A	2						.						64.0	76.0	72.0					2																	54858241		2203	4300	6503	54711745	SO:0001819	synonymous_variant	6711	exon15				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3057G>A	2.37:g.54858241G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54711745	NM_178313	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																				0.632	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
RTN4	57142	broad.mit.edu	37	2	55253125	55253125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55253125C>A	ENST00000337526.6	-	3	2353	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	RTN4_ENST00000405240.1_Nonsense_Mutation_p.E498*|RTN4_ENST00000394611.2_Nonsense_Mutation_p.E498*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Nonsense_Mutation_p.E498*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.E498*|RTN4_ENST00000354474.6_Nonsense_Mutation_p.E472*|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	704					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E704*(1)|p.E498*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AGCTTTGTTTCTTTAATTAAA	0.358																																					p.E704X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2110T	2						.						56.0	63.0	61.0					2																	55253125		2200	4295	6495	55106629	SO:0001587	stop_gained	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2110G>T	2.37:g.55253125C>A	ENSP00000337838:p.Glu704*	Somatic		Capture	Illumina HiSeq	Phase_I	55106629	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Nonsense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	38	7.119397	0.98077	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	.	.	.	5.72	5.72	0.89469	.	0.080558	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.8744	19.8834	0.96906	0.0:1.0:0.0:0.0	.	.	.	.	X	498;498;704;498;498;472	.	ENSP00000337838:E704X	E	-	1	0	RTN4	55106629	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.356000	0.66052	2.694000	0.91930	0.655000	0.94253	GAA		0.358	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
RTN4	57142	broad.mit.edu	37	2	55253531	55253531	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55253531A>G	ENST00000337526.6	-	3	1947	c.1704T>C	c.(1702-1704)ggT>ggC	p.G568G	RTN4_ENST00000405240.1_Silent_p.G362G|RTN4_ENST00000394611.2_Silent_p.G362G|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.G362G|RTN4_ENST00000404909.1_Silent_p.G362G|RTN4_ENST00000354474.6_Silent_p.G336G|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	568					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.G568G(1)|p.G362G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CAATCTTTGTACCAGTAACTT	0.413																																					p.G568G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1704C	2						.						103.0	93.0	96.0					2																	55253531		2203	4300	6503	55107035	SO:0001819	synonymous_variant	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1704T>C	2.37:g.55253531A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55107035	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	CCDS42684.1																																																																																				0.413	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
RTN4	57142	broad.mit.edu	37	2	55254620	55254620	+	Splice_Site	SNP	T	T	G	rs573197490		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55254620T>G	ENST00000337526.6	-	3	858	c.615A>C	c.(613-615)gaA>gaC	p.E205D	RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	205					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E205D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AGTCCATATTTTCTGTGACCA	0.418																																					p.E205D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A615C	2						.						71.0	63.0	66.0					2																	55254620		2203	4300	6503	55108124	SO:0001630	splice_region_variant	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.614-1A>C	2.37:g.55254620T>G		Somatic		Capture	Illumina HiSeq	Phase_I	55108124	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	8.571	0.880057	0.17467	.	.	ENSG00000115310	ENST00000337526	T	0.17213	2.29	5.8	1.96	0.26148	.	2.815140	0.00983	N	0.003411	T	0.13756	0.0333	L	0.32530	0.975	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.34229	-0.9837	10	0.16420	T	0.52	.	9.4474	0.38706	0.0:0.0668:0.4977:0.4354	.	205	Q9NQC3	RTN4_HUMAN	D	205	ENSP00000337838:E205D	ENSP00000337838:E205D	E	-	3	2	RTN4	55108124	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.105000	0.31086	0.091000	0.17302	0.455000	0.32223	GAA		0.418	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		Missense_Mutation
MTIF2	4528	broad.mit.edu	37	2	55463927	55463927	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55463927C>A	ENST00000263629.4	-	16	2356	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	MTIF2_ENST00000403721.1_Missense_Mutation_p.D681Y|MTIF2_ENST00000394600.3_Missense_Mutation_p.D681Y	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	681					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D681Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAAATGTCATCTTTATGGTGT	0.308																																					p.D681Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041T	2						.						79.0	74.0	75.0					2																	55463927		2203	4300	6503	55317431	SO:0001583	missense	4528	exon17			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.2041G>T	2.37:g.55463927C>A	ENSP00000263629:p.Asp681Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55317431	NM_001005369	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753312	0.89753	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.61274	0.12;0.12;0.12	5.93	5.93	0.95920	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.047997	0.85682	D	0.000000	D	0.86351	0.5912	H	0.98559	4.265	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90921	0.4783	10	0.87932	D	0	-21.5213	20.3284	0.98709	0.0:1.0:0.0:0.0	.	681	P46199	IF2M_HUMAN	Y	681	ENSP00000384481:D681Y;ENSP00000263629:D681Y;ENSP00000378099:D681Y	ENSP00000263629:D681Y	D	-	1	0	MTIF2	55317431	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.176000	0.77643	2.808000	0.96608	0.563000	0.77884	GAT		0.308	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
MTIF2	4528	broad.mit.edu	37	2	55479743	55479743	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55479743T>C	ENST00000263629.4	-	8	1026	c.711A>G	c.(709-711)ggA>ggG	p.G237G	MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Silent_p.G237G|MTIF2_ENST00000394600.3_Silent_p.G237G	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	237	G3. {ECO:0000250}.|tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G237G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						AAGCAGCATGTCCTGGAGTAT	0.423																																					p.G237G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A711G	2						.						98.0	89.0	92.0					2																	55479743		2203	4300	6503	55333247	SO:0001819	synonymous_variant	4528	exon9			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.711A>G	2.37:g.55479743T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55333247	NM_001005369	D6W5D0	Silent	SNP	ENST00000263629.4	37	CCDS1853.1																																																																																				0.423	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
CCDC88A	55704	broad.mit.edu	37	2	55523592	55523592	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55523592G>A	ENST00000436346.1	-	30	5734	c.4893C>T	c.(4891-4893)gaC>gaT	p.D1631D	CCDC88A_ENST00000263630.8_Silent_p.D1603D|CCDC88A_ENST00000413716.2_Silent_p.D1630D|CCDC88A_ENST00000422883.2_Silent_p.D132D|CCDC88A_ENST00000336838.6_Silent_p.D1630D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1631					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.D1603D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGCCTCATGGTCATGAAGCA	0.468																																					p.D1630D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4890T	2						.						131.0	114.0	120.0					2																	55523592		2203	4300	6503	55377096	SO:0001819	synonymous_variant	55704	exon30			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4893C>T	2.37:g.55523592G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55377096	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.270|4.270	0.049163|0.049163	0.08243|0.08243	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000444458	.|.	.|.	.|.	5.39|5.39	-2.1|-2.1	0.07210|0.07210	.|.	.|.	.|.	.|.	.|.	T|T	0.38852|0.38852	0.1056|0.1056	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34551|0.34551	-0.9824|-0.9824	4|4	.|.	.|.	.|.	-9.746|-9.746	1.1458|1.1458	0.01775|0.01775	0.4294:0.1943:0.2298:0.1465|0.4294:0.1943:0.2298:0.1465	.|.	.|.	.|.	.|.	S|I	584|134	.|.	.|.	P|T	-|-	1|2	0|0	CCDC88A|CCDC88A	55377096|55377096	0.952000|0.952000	0.32445|0.32445	0.998000|0.998000	0.56505|0.56505	0.961000|0.961000	0.63080|0.63080	0.051000|0.051000	0.14141|0.14141	0.056000|0.056000	0.16144|0.16144	-0.670000|-0.670000	0.03821|0.03821	CCA|ACC		0.468	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CCDC88A	55704	broad.mit.edu	37	2	55591118	55591118	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55591118T>C	ENST00000436346.1	-	6	1295	c.454A>G	c.(454-456)Aca>Gca	p.T152A	CCDC88A_ENST00000413716.2_Missense_Mutation_p.T152A|CCDC88A_ENST00000336838.6_Missense_Mutation_p.T152A|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T152A	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	152					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.T152A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTGCTTTTGTATCAAAATCT	0.308																																					p.T152A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454G	2						.						68.0	71.0	70.0					2																	55591118		2203	4296	6499	55444622	SO:0001583	missense	55704	exon6			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.454A>G	2.37:g.55591118T>C	ENSP00000410608:p.Thr152Ala	Somatic		Capture	Illumina HiSeq	Phase_I	55444622	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.085018	0.76642	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.28	5.28	0.74379	.	0.000000	0.46442	U	0.000300	T	0.36193	0.0958	M	0.71581	2.175	0.80722	D	1	P;P;P	0.42692	0.787;0.493;0.68	P;B;B	0.53760	0.734;0.36;0.442	T	0.11542	-1.0583	10	0.72032	D	0.01	-12.2956	15.2175	0.73281	0.0:0.0:0.0:1.0	.	152;152;152	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	A	152;152;152;152;77	ENSP00000338728:T152A;ENSP00000263630:T152A;ENSP00000410608:T152A;ENSP00000404431:T152A;ENSP00000399237:T77A	ENSP00000263630:T152A	T	-	1	0	CCDC88A	55444622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.822000	0.69265	2.009000	0.58944	0.460000	0.39030	ACA		0.308	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CFAP36	112942	broad.mit.edu	37	2	55750887	55750887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55750887G>T	ENST00000349456.4	+	3	359	c.211G>T	c.(211-213)Gaa>Taa	p.E71*	CCDC104_ENST00000406691.3_Nonsense_Mutation_p.E71*|CCDC104_ENST00000339012.3_Nonsense_Mutation_p.E96*|CCDC104_ENST00000407816.3_Nonsense_Mutation_p.E71*|CCDC104_ENST00000403007.3_Nonsense_Mutation_p.E71*			Q96G28	CFA36_HUMAN		71								p.E71*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTACCTCAAAGAAATTGGAAT	0.303																																					p.E71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G211T	2						.						84.0	81.0	82.0					2																	55750887		2203	4299	6502	55604391	SO:0001587	stop_gained	112942	exon3																														ENST00000349456.4:c.211G>T	2.37:g.55750887G>T	ENSP00000295117:p.Glu71*	Somatic		Capture	Illumina HiSeq	Phase_I	55604391	NM_080667	Q53SF0|Q53ST9|Q6UY34	Nonsense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	37	6.579361	0.97680	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	.	.	.	5.7	5.7	0.88788	.	0.092464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8389	0.96675	0.0:0.0:1.0:0.0	.	.	.	.	X	96;71;71;71;71	.	ENSP00000342699:E96X	E	+	1	0	CCDC104	55604391	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.711000	0.84669	2.703000	0.92315	0.655000	0.94253	GAA		0.303	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2		
SMEK2	57223	broad.mit.edu	37	2	55813839	55813839	+	Missense_Mutation	SNP	G	G	T	rs35266904		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55813839G>T	ENST00000345102.5	-	6	1332	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	SMEK2_ENST00000272313.5_Missense_Mutation_p.S344Y|SMEK2_ENST00000407823.3_Missense_Mutation_p.S344Y	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	344					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.S344Y(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATGTCTGAGAAAATGCACA	0.328																																					p.S344Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031A	2						.						110.0	114.0	113.0					2																	55813839		2202	4300	6502	55667343	SO:0001583	missense	57223	exon6			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1031C>A	2.37:g.55813839G>T	ENSP00000339769:p.Ser344Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55667343	NM_001122964	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872505	0.91587	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.51574	0.7;0.7;0.7	5.62	5.62	0.85841	Armadillo-like helical (1);Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.85130	0.993;0.992;0.956;0.997	T	0.78648	-0.2122	10	0.56958	D	0.05	-11.5531	19.2608	0.93967	0.0:0.0:1.0:0.0	.	344;344;344;344	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	Y	344	ENSP00000272313:S344Y;ENSP00000385912:S344Y;ENSP00000339769:S344Y	ENSP00000272313:S344Y	S	-	2	0	SMEK2	55667343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.852000	0.99516	2.637000	0.89404	0.650000	0.86243	TCT		0.328	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
PNPT1	87178	broad.mit.edu	37	2	55906922	55906922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55906922G>A	ENST00000447944.2	-	8	660	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	192					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.R192*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTATTCGTACTGCCCCT	0.348																																					p.R192X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C574T	2						.						96.0	96.0	96.0					2																	55906922		2202	4299	6501	55760426	SO:0001587	stop_gained	87178	exon8			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.574C>T	2.37:g.55906922G>A	ENSP00000400646:p.Arg192*	Somatic		Capture	Illumina HiSeq	Phase_I	55760426	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Nonsense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706154	0.68615	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.05	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5326	12.6023	0.56504	0.0:0.0:0.544:0.456	.	.	.	.	X	192	.	ENSP00000386075:R192X	R	-	1	2	PNPT1	55760426	0.974000	0.33945	0.998000	0.56505	0.996000	0.88848	1.119000	0.31258	1.222000	0.43521	0.561000	0.74099	CGA		0.348	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
PNPT1	87178	broad.mit.edu	37	2	55920850	55920850	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:55920850C>A	ENST00000447944.2	-	1	195	c.109G>T	c.(109-111)Gca>Tca	p.A37S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	37					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.A37S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCATAGTGCTCGCACTTGC	0.597																																					p.A37S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109T	2						.						91.0	77.0	81.0					2																	55920850		2203	4300	6503	55774354	SO:0001583	missense	87178	exon1			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.109G>T	2.37:g.55920850C>A	ENSP00000400646:p.Ala37Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55774354	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424779	0.25639	.	.	ENSG00000138035	ENST00000447944	T	0.59083	0.29	5.03	3.2	0.36748	Ribosomal protein S5 domain 2-type fold (1);	0.196102	0.44688	D	0.000438	T	0.39332	0.1074	N	0.19112	0.55	0.23820	N	0.996759	B	0.10296	0.003	B	0.08055	0.003	T	0.31833	-0.9929	10	0.48119	T	0.1	-11.9755	9.3614	0.38197	0.0:0.8255:0.0:0.1745	.	37	Q8TCS8	PNPT1_HUMAN	S	37	ENSP00000400646:A37S	ENSP00000260604:A37S	A	-	1	0	PNPT1	55774354	0.975000	0.34042	0.970000	0.41538	0.152000	0.21847	1.083000	0.30815	1.367000	0.46095	0.650000	0.86243	GCA		0.597	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
EFEMP1	2202	broad.mit.edu	37	2	56098127	56098127	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:56098127T>C	ENST00000394555.2	-	9	1560				EFEMP1_ENST00000394554.1_Intron|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.?(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTCTGATTTTTCTTACTTC	0.423																																					.	GBM(92;934 1319 7714 28760 40110)											.	.	1	Unknown(1)	large_intestine(1)	.	2						.						71.0	79.0	76.0					2																	56098127		2203	4300	6503	55951631	SO:0001627	intron_variant	2202	.			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1124+7A>G	2.37:g.56098127T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55951631	.	A8K3I4|B4DW75|D6W5D2|Q541U7	Intron	SNP	ENST00000394555.2	37	CCDS1857.1																																																																																				0.423	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		
BCL11A	53335	broad.mit.edu	37	2	60687954	60687954	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:60687954C>T	ENST00000335712.6	-	4	2320	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	BCL11A_ENST00000356842.4_Missense_Mutation_p.R698H|BCL11A_ENST00000358510.4_Missense_Mutation_p.R664H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R664H|BCL11A_ENST00000537768.1_Missense_Mutation_p.R367H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	698					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.R698H(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTGGAGAAGCGCAAACTCCC	0.652			T	IGH@	B-CLL																																p.R698H			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2093A	2						.						34.0	43.0	40.0					2																	60687954		2201	4298	6499	60541458	SO:0001583	missense	53335	exon4			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2093G>A	2.37:g.60687954C>T	ENSP00000338774:p.Arg698His	Somatic		Capture	Illumina HiSeq	Phase_I	60541458	NM_022893	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069750	0.55539	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.21543	2.0;3.22;2.7;3.26;3.17	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.98;0.991;0.999;0.999	T	0.17899	-1.0354	10	0.72032	D	0.01	-3.1546	20.3312	0.98718	0.0:1.0:0.0:0.0	.	664;367;664;698;698	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	698;723;664;367;698;664	ENSP00000349300:R698H;ENSP00000438303:R664H;ENSP00000443712:R367H;ENSP00000338774:R698H;ENSP00000351307:R664H	ENSP00000338774:R698H	R	-	2	0	BCL11A	60541458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.797000	0.96272	0.655000	0.94253	CGC		0.652	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
REL	5966	broad.mit.edu	37	2	61121549	61121549	+	Silent	SNP	A	A	G	rs528753729	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:61121549A>G	ENST00000295025.8	+	3	491	c.171A>G	c.(169-171)ggA>ggG	p.G57G	REL_ENST00000394479.3_Silent_p.G57G	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	57	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G57G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACTATTATGGAAAAGGAAAAG	0.313			A		Hodgkin Lymphoma								A|||	4	0.000798722	0.0	0.0	5008	,	,		20382	0.0		0.0	False		,,,				2504	0.0041				p.G57G			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A171G	2						.						87.0	88.0	88.0					2																	61121549		2203	4300	6503	60975053	SO:0001819	synonymous_variant	5966	exon3			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.171A>G	2.37:g.61121549A>G		Somatic		Capture	Illumina HiSeq	Phase_I	60975053	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Silent	SNP	ENST00000295025.8	37	CCDS1864.1																																																																																				0.313	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	
KIAA1841	84542	broad.mit.edu	37	2	61324961	61324961	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:61324961C>T	ENST00000402291.1	+	12	1580	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	KIAA1841_ENST00000295031.5_Missense_Mutation_p.R447W|KIAA1841_ENST00000356719.2_Missense_Mutation_p.R447W|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R447W	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	447								p.R447W(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAGGTTCTTCGGTTTGATCC	0.353																																					p.R447W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1339T	2						.						132.0	128.0	130.0					2																	61324961		2203	4300	6503	61178465	SO:0001583	missense	84542	exon12			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1339C>T	2.37:g.61324961C>T	ENSP00000385579:p.Arg447Trp	Somatic		Capture	Illumina HiSeq	Phase_I	61178465	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113104	0.77210	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.59	3.8	0.43715	.	0.120992	0.56097	D	0.000026	T	0.77184	0.4093	M	0.83483	2.645	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.77574	-0.2537	9	0.87932	D	0	-2.2375	8.057	0.30610	0.1297:0.7331:0.0:0.1372	.	447;447	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	W	447	.	ENSP00000295031:R447W	R	+	1	2	KIAA1841	61178465	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.338000	0.65947	0.841000	0.35020	0.579000	0.79373	CGG		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	
USP34	9736	broad.mit.edu	37	2	61415543	61415543	+	Silent	SNP	G	G	A	rs373276020		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:61415543G>A	ENST00000398571.2	-	80	10411	c.10335C>T	c.(10333-10335)gaC>gaT	p.D3445D	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3445					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D3445D(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTTACAATCGTCATATCTAC	0.403																																					p.D3445D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10335T	2						.						97.0	90.0	92.0					2																	61415543		1907	4137	6044	61269047	SO:0001819	synonymous_variant	9736	exon80			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10335C>T	2.37:g.61415543G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61269047	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.339267	0.00224	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.52	0.301	0.15781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5524	0.22442	0.0:0.1329:0.2576:0.6095	.	.	.	.	X	1122	.	.	R	-	1	2	USP34	61269047	0.997000	0.39634	0.516000	0.27786	0.062000	0.15995	0.266000	0.18534	-0.095000	0.12351	-1.330000	0.01273	CGA		0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q|XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL																																p.R749Q		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2246A	2						.						145.0	142.0	143.0					2																	61715367		2203	4300	6503	61568871	SO:0001583	missense	7514	exon19			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	2.37:g.61715367C>T	ENSP00000384863:p.Arg749Gln	Somatic		Capture	Illumina HiSeq	Phase_I	61568871	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
FAM161A	84140	broad.mit.edu	37	2	62053614	62053614	+	Missense_Mutation	SNP	C	C	A	rs558080743	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:62053614C>A	ENST00000405894.3	-	6	2060	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D	FAM161A_ENST00000404929.1_Missense_Mutation_p.E709D	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	653	Glu-rich.				cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.E544D(1)|p.E653D(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACAGATTTCTCTTCTTCAC	0.408																																					p.E653D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1959T	2						.						156.0	155.0	155.0					2																	62053614		1953	4162	6115	61907118	SO:0001583	missense	84140	exon6				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1959G>T	2.37:g.62053614C>A	ENSP00000385893:p.Glu653Asp	Somatic		Capture	Illumina HiSeq	Phase_I	61907118	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479387	0.44044	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.29397	2.25;1.57	5.59	-0.505	0.11993	.	0.842388	0.09579	U	0.783085	T	0.22513	0.0543	L	0.27053	0.805	0.09310	N	1	P;B	0.34522	0.455;0.447	B;B	0.38056	0.135;0.264	T	0.30563	-0.9974	10	0.56958	D	0.05	.	8.1323	0.31035	0.0:0.466:0.0:0.534	.	653;709	Q3B820;Q3B820-3	F161A_HUMAN;.	D	709;653	ENSP00000385158:E709D;ENSP00000385893:E653D	ENSP00000385158:E709D	E	-	3	2	FAM161A	61907118	0.043000	0.20138	0.005000	0.12908	0.629000	0.37895	0.314000	0.19432	0.031000	0.15407	0.551000	0.68910	GAG		0.408	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
TMEM17	200728	broad.mit.edu	37	2	62728565	62728565	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:62728565G>T	ENST00000335390.5	-	4	587	c.376C>A	c.(376-378)Ctt>Att	p.L126I		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	126					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L126I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCAAGAAAAGAATTAAAGGT	0.378																																					p.L126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376A	2						.						78.0	85.0	82.0					2																	62728565		2203	4300	6503	62582069	SO:0001583	missense	200728	exon4				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.376C>A	2.37:g.62728565G>T	ENSP00000335094:p.Leu126Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62582069	NM_198276	Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391569	0.83011	.	.	ENSG00000186889	ENST00000335390	D	0.88896	-2.44	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	L	0.61036	1.89	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.92863	0.6307	10	0.46703	T	0.11	-15.5279	20.0567	0.97653	0.0:0.0:1.0:0.0	.	126	Q86X19	TMM17_HUMAN	I	126	ENSP00000335094:L126I	ENSP00000335094:L126I	L	-	1	0	TMEM17	62582069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.041000	0.64196	2.752000	0.94435	0.650000	0.86243	CTT		0.378	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276	
WDPCP	51057	broad.mit.edu	37	2	63661024	63661024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:63661024C>T	ENST00000272321.7	-	9	1207	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	WDPCP_ENST00000398544.3_Missense_Mutation_p.R68Q|WDPCP_ENST00000409199.1_Missense_Mutation_p.R35Q|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.R227Q|WDPCP_ENST00000409120.1_Missense_Mutation_p.R35Q	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	227					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R227Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGCTAGATGTCGCTCTGTTGT	0.393																																					p.R227Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	2						.						75.0	72.0	73.0					2																	63661024		1885	4100	5985	63514528	SO:0001583	missense	51057	exon9				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.680G>A	2.37:g.63661024C>T	ENSP00000272321:p.Arg227Gln	Somatic		Capture	Illumina HiSeq	Phase_I	63514528	NM_015910	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148258	0.57151	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.43	3.61	0.41365	.	0.062767	0.64402	D	0.000008	T	0.67915	0.2944	M	0.76328	2.33	0.44485	D	0.997424	D;P;D;D	0.76494	0.999;0.746;0.999;0.996	D;B;D;P	0.69142	0.943;0.236;0.962;0.855	T	0.68557	-0.5377	10	0.72032	D	0.01	-0.8926	9.5674	0.39407	0.1421:0.7838:0.0:0.0741	.	35;227;227;68	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	Q	227;35;35;68;227	ENSP00000272321:R227Q;ENSP00000386592:R35Q;ENSP00000386769:R35Q;ENSP00000381552:R68Q;ENSP00000387222:R227Q	ENSP00000272321:R227Q	R	-	2	0	WDPCP	63514528	1.000000	0.71417	0.134000	0.22075	0.812000	0.45895	4.182000	0.58310	0.650000	0.30769	0.563000	0.77884	CGA		0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
WDPCP	51057	broad.mit.edu	37	2	63712118	63712118	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:63712118C>T	ENST00000272321.7	-	5	784	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	WDPCP_ENST00000409562.3_Missense_Mutation_p.R86Q|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	86					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R86Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGGATAATCTCGTGCTGGCAA	0.378																																					p.R86Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	2						.						83.0	74.0	77.0					2																	63712118		1815	4085	5900	63565622	SO:0001583	missense	51057	exon5				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.257G>A	2.37:g.63712118C>T	ENSP00000272321:p.Arg86Gln	Somatic		Capture	Illumina HiSeq	Phase_I	63565622	NM_015910	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077641	0.94000	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	T;T;T	0.81163	0.01;0.01;-1.46	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.90549	0.7038	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90525	0.4491	10	0.87932	D	0	-6.5574	20.4388	0.99107	0.0:1.0:0.0:0.0	.	86;86	O95876-2;O95876	.;FRITZ_HUMAN	Q	86;86;71	ENSP00000272321:R86Q;ENSP00000387222:R86Q;ENSP00000396226:R71Q	ENSP00000272321:R86Q	R	-	2	0	WDPCP	63565622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.190000	0.72057	2.836000	0.97738	0.655000	0.94253	CGA		0.378	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
VPS54	51542	broad.mit.edu	37	2	64161084	64161084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:64161084C>A	ENST00000272322.4	-	12	1616	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	VPS54_ENST00000354504.3_Nonsense_Mutation_p.E335*|VPS54_ENST00000409558.4_Nonsense_Mutation_p.E476*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	488					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.E488*(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCTTCCAATTCTCTAGTCCTT	0.363																																					p.E476X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1426T	2						.						133.0	110.0	118.0					2																	64161084		2203	4300	6503	64014588	SO:0001587	stop_gained	51542	exon12			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1462G>T	2.37:g.64161084C>A	ENSP00000272322:p.Glu488*	Somatic		Capture	Illumina HiSeq	Phase_I	64014588	NM_001005739	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	42	9.364238	0.99148	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	5.31	4.38	0.52667	.	0.473208	0.25027	N	0.033707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	16.5871	0.84730	0.0:0.87:0.1299:0.0	.	.	.	.	X	335;488;476;476;488	.	ENSP00000272322:E488X	E	-	1	0	VPS54	64014588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.111000	0.50360	2.646000	0.89796	0.563000	0.77884	GAA		0.363	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
VPS54	51542	broad.mit.edu	37	2	64189193	64189193	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:64189193G>A	ENST00000272322.4	-	7	1163	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	VPS54_ENST00000354504.3_Splice_Site_p.R220W|VPS54_ENST00000409558.4_Splice_Site_p.R325W			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	337					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.R337W(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAACATACCGGAAACTGTGA	0.323																																					p.R325W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C973T	2						.						105.0	107.0	106.0					2																	64189193		2203	4300	6503	64042697	SO:0001630	splice_region_variant	51542	exon7			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1010+1C>T	2.37:g.64189193G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64042697	NM_001005739	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249718	0.80024	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.52057	0.9;0.68;0.68	5.65	5.65	0.86999	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.76710	-0.2859	10	0.87932	D	0	.	19.7279	0.96172	0.0:0.0:1.0:0.0	.	220;337;325	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	W	220;337;325;325;337	ENSP00000346499:R220W;ENSP00000272322:R337W;ENSP00000386980:R325W	ENSP00000272322:R337W	R	-	1	2	VPS54	64042697	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.902000	0.63266	2.659000	0.90383	0.561000	0.74099	CGG		0.323	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	Missense_Mutation
AFTPH	54812	broad.mit.edu	37	2	64778948	64778948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:64778948G>T	ENST00000422803.1	+	2	654	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E114*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E114*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E114*|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	114					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.E114*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACCAGCAAAGAAATAATTTC	0.368																																					p.E114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G340T	2						.						42.0	42.0	42.0					2																	64778948		2203	4297	6500	64632452	SO:0001587	stop_gained	54812	exon2			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.340G>T	2.37:g.64778948G>T	ENSP00000397726:p.Glu114*	Somatic		Capture	Illumina HiSeq	Phase_I	64632452	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.167693	0.94768	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	.	.	.	5.87	5.0	0.66597	.	0.180670	0.45867	D	0.000329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-10.2572	15.633	0.76926	0.0658:0.0:0.9342:0.0	.	.	.	.	X	114	.	ENSP00000238855:E114X	E	+	1	0	AFTPH	64632452	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	5.222000	0.65277	1.640000	0.50565	-0.126000	0.14955	GAA		0.368	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
SLC1A4	6509	broad.mit.edu	37	2	65243616	65243616	+	Silent	SNP	C	C	T	rs369182463		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:65243616C>T	ENST00000234256.3	+	5	1086	c.843C>T	c.(841-843)atC>atT	p.I281I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	281					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.I281I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAAGCAAGATCGTGGAAATGA	0.493																																					p.I281I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	197.0	177.0	184.0		,843	-3.7	1.0	2		184	0,8600		0,0,4300	no	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,281/533	65243616	1,13005	2203	4300	6503	65097120	SO:0001819	synonymous_variant	6509	exon5				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.843C>T	2.37:g.65243616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	65097120	NM_003038	B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																				0.493	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038	
MEIS1	4211	broad.mit.edu	37	2	66667041	66667041	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:66667041C>T	ENST00000272369.9	+	3	763	c.306C>T	c.(304-306)cgC>cgT	p.R102R	MEIS1_ENST00000398506.2_Silent_p.R100R|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_Silent_p.R37R|MEIS1_ENST00000407092.2_Silent_p.R102R|MEIS1_ENST00000444274.2_Silent_p.R70R|MEIS1_ENST00000560281.2_Silent_p.R102R|MEIS1_ENST00000488550.1_Silent_p.R102R	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	102					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.R102R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTACCCCCCGCGAGCCGGGGG	0.473																																					p.R102R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	2						.						40.0	39.0	39.0					2																	66667041		1801	4066	5867	66520545	SO:0001819	synonymous_variant	4211	exon3				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.306C>T	2.37:g.66667041C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66520545	NM_002398	A8MV50	Silent	SNP	ENST00000272369.9	37	CCDS46309.1																																																																																				0.473	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
ETAA1	54465	broad.mit.edu	37	2	67630382	67630382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:67630382G>T	ENST00000272342.5	+	5	698	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	190						cytoplasm (GO:0005737)		p.E190*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAGAAGAAGAACTTATGAA	0.264																																					p.E190X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G568T	2						.						24.0	29.0	27.0					2																	67630382		2133	4253	6386	67483886	SO:0001587	stop_gained	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.568G>T	2.37:g.67630382G>T	ENSP00000272342:p.Glu190*	Somatic		Capture	Illumina HiSeq	Phase_I	67483886	NM_019002	Q05BT7|Q53SC4	Nonsense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	38	6.653235	0.97739	.	.	ENSG00000143971	ENST00000272342	.	.	.	6.16	6.16	0.99307	.	0.110694	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7163	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000272342:E190X	E	+	1	0	ETAA1	67483886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.937000	0.99478	0.650000	0.86243	GAA		0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
ETAA1	54465	broad.mit.edu	37	2	67632360	67632360	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:67632360T>G	ENST00000272342.5	+	5	2676	c.2546T>G	c.(2545-2547)aTt>aGt	p.I849S	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	849						cytoplasm (GO:0005737)		p.I849S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GATACCAAAATTACACAGGGT	0.343																																					p.I849S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2546G	2						.						39.0	40.0	39.0					2																	67632360		2199	4293	6492	67485864	SO:0001583	missense	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2546T>G	2.37:g.67632360T>G	ENSP00000272342:p.Ile849Ser	Somatic		Capture	Illumina HiSeq	Phase_I	67485864	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455663	0.43634	.	.	ENSG00000143971	ENST00000272342	T	0.24723	1.84	5.22	5.22	0.72569	.	0.254844	0.33309	N	0.005046	T	0.28764	0.0713	M	0.64997	1.995	0.09310	N	1	P	0.41848	0.763	P	0.44897	0.463	T	0.41734	-0.9492	10	0.87932	D	0	-17.9741	4.5986	0.12341	0.1709:0.0934:0.0:0.7357	.	849	Q9NY74	ETAA1_HUMAN	S	849	ENSP00000272342:I849S	ENSP00000272342:I849S	I	+	2	0	ETAA1	67485864	0.821000	0.29204	0.170000	0.22879	0.615000	0.37417	1.123000	0.31308	2.092000	0.63282	0.533000	0.62120	ATT		0.343	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
ETAA1	54465	broad.mit.edu	37	2	67637175	67637175	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:67637175A>C	ENST00000272342.5	+	0	2916					NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1							cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CTTTAATGAAATATTAGTTGG	0.363																																					.												.	.	0			.	2						.						83.0	97.0	93.0					2																	67637175		2203	4300	6503	67490679	SO:0001624	3_prime_UTR_variant	54465	.			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.*5A>C	2.37:g.67637175A>C		Somatic		Capture	Illumina HiSeq	Phase_I	67490679	.	Q05BT7|Q53SC4	3'UTR	SNP	ENST00000272342.5	37	CCDS1882.1																																																																																				0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
WDR92	116143	broad.mit.edu	37	2	68384760	68384760	+	5'Flank	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:68384760A>G	ENST00000295121.6	-	0	0				WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000406245.2_5'Flank|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.S277P|WDR92_ENST00000492039.2_5'Flank|PNO1_ENST00000263657.2_5'Flank	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92						apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GATCGCACAGAATGTTCCTTC	0.493																																					.												.	.	0			.	2						.						74.0	69.0	71.0					2																	68384760		876	1991	2867	68238264	SO:0001631	upstream_gene_variant	116143	.			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561		2.37:g.68384760A>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	68238264	.	Q96CR6	5'Flank	SNP	ENST00000295121.6	37	CCDS1884.1																																																																																				0.493	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	
PLEK	5341	broad.mit.edu	37	2	68615556	68615556	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:68615556A>G	ENST00000234313.7	+	6	874	c.695A>G	c.(694-696)gAt>gGt	p.D232G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	232					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.D232G(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTCCAGTGATGATGATGTG	0.448																																					p.D232G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A695G	2						.						141.0	141.0	141.0					2																	68615556		2203	4300	6503	68469060	SO:0001583	missense	5341	exon6			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.695A>G	2.37:g.68615556A>G	ENSP00000234313:p.Asp232Gly	Somatic		Capture	Illumina HiSeq	Phase_I	68469060	NM_002664	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440492	0.83993	.	.	ENSG00000115956	ENST00000234313	T	0.21734	1.99	5.17	5.17	0.71159	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.50541	-0.8816	10	0.66056	D	0.02	.	15.0181	0.71605	1.0:0.0:0.0:0.0	.	250;232	Q59GZ2;P08567	.;PLEK_HUMAN	G	232	ENSP00000234313:D232G	ENSP00000234313:D232G	D	+	2	0	PLEK	68469060	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.624000	0.90961	1.952000	0.56665	0.533000	0.62120	GAT		0.448	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664	
PROKR1	10887	broad.mit.edu	37	2	68882510	68882510	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:68882510G>T	ENST00000303786.3	+	3	1404	c.984G>T	c.(982-984)gaG>gaT	p.E328D	PROKR1_ENST00000394342.2_Missense_Mutation_p.E328D			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	328					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.E328D(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACATCGTCGAGTGCATCGCCA	0.522																																					p.E328D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G984T	2						.						201.0	143.0	162.0					2																	68882510		2203	4300	6503	68736014	SO:0001583	missense	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.984G>T	2.37:g.68882510G>T	ENSP00000303775:p.Glu328Asp	Somatic		Capture	Illumina HiSeq	Phase_I	68736014	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067123	0.76301	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.37411	1.2;1.2	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.66939	2.045	0.58432	D	0.999991	P	0.46706	0.883	P	0.52554	0.702	T	0.47886	-0.9082	10	0.49607	T	0.09	.	15.9178	0.79535	0.0:0.0:1.0:0.0	.	328	Q8TCW9	PKR1_HUMAN	D	328	ENSP00000303775:E328D;ENSP00000377874:E328D	ENSP00000303775:E328D	E	+	3	2	PROKR1	68736014	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.032000	0.41127	2.884000	0.98904	0.655000	0.94253	GAG		0.522	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
ANTXR1	84168	broad.mit.edu	37	2	69372451	69372451	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:69372451C>A	ENST00000303714.4	+	13	1273				ANTXR1_ENST00000409829.3_Intron|ANTXR1_ENST00000409349.3_Intron	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						tgttctctttcttaaagagcc	0.483									Familial Infantile Hemangioma																												.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						60.0	59.0	59.0					2																	69372451		1865	4112	5977	69225955	SO:0001627	intron_variant	84168	.	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.952-6850C>A	2.37:g.69372451C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69225955	.	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Intron	SNP	ENST00000303714.4	37	CCDS1892.1																																																																																				0.483	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
ANXA4	307	broad.mit.edu	37	2	70045757	70045757	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:70045757C>G	ENST00000394295.4	+	10	903	c.655C>G	c.(655-657)Cag>Gag	p.Q219E	ANXA4_ENST00000409920.1_Missense_Mutation_p.Q197E|ANXA4_ENST00000536030.1_Missense_Mutation_p.Q135E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	217					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.Q219E(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGGATATCACAGAAGGATAT	0.353																																					p.Q219E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655G	2						.						114.0	113.0	113.0					2																	70045757		2203	4300	6503	69899261	SO:0001583	missense	307	exon10			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.655C>G	2.37:g.70045757C>G	ENSP00000377833:p.Gln219Glu	Somatic		Capture	Illumina HiSeq	Phase_I	69899261	NM_001153	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228269	0.39399	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03242	4.0;4.0;4.0	5.98	2.8	0.32819	Annexin repeat, conserved site (1);	0.501020	0.24771	N	0.035731	T	0.02418	0.0074	N	0.11313	0.125	0.26275	N	0.978366	B;B;B	0.16603	0.004;0.018;0.004	B;B;B	0.23275	0.003;0.045;0.003	T	0.45848	-0.9233	9	.	.	.	.	12.2415	0.54544	0.6276:0.3723:0.0:0.0	.	217;197;219	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	E	197;219;135	ENSP00000386756:Q197E;ENSP00000377833:Q219E;ENSP00000441931:Q135E	.	Q	+	1	0	ANXA4	69899261	0.925000	0.31364	0.989000	0.46669	0.991000	0.79684	1.723000	0.38053	0.787000	0.33731	0.591000	0.81541	CAG		0.353	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153	
ASPRV1	151516	broad.mit.edu	37	2	70188201	70188201	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:70188201A>G	ENST00000320256.4	-	1	1196	c.620T>C	c.(619-621)gTg>gCg	p.V207A	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.V207A(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAGGAACCTCACGGGCACTTT	0.597																																					p.V207A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T620C	2						.						85.0	87.0	86.0					2																	70188201		2203	4300	6503	70041705	SO:0001583	missense	151516	exon1			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.620T>C	2.37:g.70188201A>G	ENSP00000315383:p.Val207Ala	Somatic		Capture	Illumina HiSeq	Phase_I	70041705	NM_152792		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639836	0.67244	.	.	ENSG00000244617	ENST00000320256	T	0.55413	0.52	5.69	5.69	0.88448	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.443550	0.16781	N	0.199768	T	0.56601	0.1996	N	0.14661	0.345	0.36196	D	0.85039	D	0.76494	0.999	D	0.85130	0.997	T	0.67015	-0.5777	10	0.87932	D	0	-19.711	12.3518	0.55153	1.0:0.0:0.0:0.0	.	207	Q53RT3	APRV1_HUMAN	A	207	ENSP00000315383:V207A	ENSP00000315383:V207A	V	-	2	0	ASPRV1	70041705	0.996000	0.38824	1.000000	0.80357	0.931000	0.56810	2.254000	0.43214	2.162000	0.67917	0.533000	0.62120	GTG		0.597	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
PCYOX1	51449	broad.mit.edu	37	2	70504364	70504364	+	Missense_Mutation	SNP	G	G	A	rs557758464		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:70504364G>A	ENST00000433351.2	+	6	1386	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	PCYOX1_ENST00000264441.5_3'UTR|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R376Q|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R375Q	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	453					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.R453Q(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CTCCATGATCGACTTTATTAC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19357	0.001		0.0	False		,,,				2504	0.0				p.R453Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1358A	2						.						102.0	105.0	104.0					2																	70504364		2203	4300	6503	70357868	SO:0001583	missense	51449	exon6			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1358G>A	2.37:g.70504364G>A	ENSP00000387654:p.Arg453Gln	Somatic		Capture	Illumina HiSeq	Phase_I	70357868	NM_016297	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610673	0.14066	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	T;T;T	0.14144	2.53;2.53;2.53	5.23	0.369	0.16151	Prenylcysteine lyase (1);	0.231399	0.34828	N	0.003647	T	0.05914	0.0154	N	0.11427	0.14	0.20489	N	0.999897	B;B	0.21071	0.051;0.041	B;B	0.15052	0.01;0.012	T	0.41752	-0.9491	10	0.17369	T	0.5	-1.4815	9.6581	0.39939	0.4446:0.0:0.5554:0.0	.	435;453	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	Q	376;453;375	ENSP00000441566:R376Q;ENSP00000387654:R453Q;ENSP00000439916:R375Q	ENSP00000387654:R453Q	R	+	2	0	PCYOX1	70357868	0.001000	0.12720	0.257000	0.24404	0.713000	0.41058	1.033000	0.30191	0.099000	0.17552	0.655000	0.94253	CGA		0.493	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297	
ZNF638	27332	broad.mit.edu	37	2	71650566	71650566	+	Missense_Mutation	SNP	G	G	T	rs376441029		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:71650566G>T	ENST00000409544.1	+	22	4552	c.3922G>T	c.(3922-3924)Gat>Tat	p.D1308Y	ZNF638_ENST00000264447.4_Missense_Mutation_p.D1308Y|ZNF638_ENST00000409407.1_Missense_Mutation_p.D248Y|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1308	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D1308Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGTAACATGGATGAAAAGGA	0.383																																					p.D1308Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3922T	2						.						55.0	57.0	56.0					2																	71650566		2203	4300	6503	71504074	SO:0001583	missense	27332	exon22			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3922G>T	2.37:g.71650566G>T	ENSP00000386433:p.Asp1308Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	71504074	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409301	0.62399	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.35605	1.3;1.3;1.55	5.63	5.63	0.86233	.	0.462739	0.20391	N	0.093254	T	0.48909	0.1526	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;D;P	0.65874	0.887;0.939;0.87	T	0.46527	-0.9185	10	0.72032	D	0.01	-5.6267	17.5287	0.87808	0.0:0.0:1.0:0.0	.	1308;1308;1308	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	Y	1308;1308;248;248	ENSP00000264447:D1308Y;ENSP00000386433:D1308Y;ENSP00000386813:D248Y	ENSP00000264447:D1308Y	D	+	1	0	ZNF638	71504074	0.001000	0.12720	0.994000	0.49952	0.885000	0.51271	0.725000	0.25970	2.814000	0.96858	0.563000	0.77884	GAT		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ZNF638	27332	broad.mit.edu	37	2	71660326	71660326	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:71660326C>A	ENST00000409544.1	+	27	6414	c.5784C>A	c.(5782-5784)ttC>ttA	p.F1928L	ZNF638_ENST00000264447.4_Missense_Mutation_p.F1928L|ZNF638_ENST00000409407.1_Missense_Mutation_p.F868L|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1928					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F1928L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGCTGGATTCTTCTGTCCAA	0.333																																					p.F1928L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5784A	2						.						187.0	193.0	191.0					2																	71660326		2203	4300	6503	71513834	SO:0001583	missense	27332	exon27			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5784C>A	2.37:g.71660326C>A	ENSP00000386433:p.Phe1928Leu	Somatic		Capture	Illumina HiSeq	Phase_I	71513834	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725753	0.89298	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.56275	0.47;0.47;0.81	6.16	4.36	0.52297	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.64402	D	0.000017	T	0.66297	0.2775	M	0.64997	1.995	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.67677	-0.5609	10	0.87932	D	0	-7.8203	10.4932	0.44762	0.0:0.8415:0.0:0.1585	.	1928	Q14966	ZN638_HUMAN	L	1928;1928;868	ENSP00000264447:F1928L;ENSP00000386433:F1928L;ENSP00000386813:F868L	ENSP00000264447:F1928L	F	+	3	2	ZNF638	71513834	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.350000	0.20079	0.915000	0.36847	0.650000	0.86243	TTC		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
RAB11FIP5	26056	broad.mit.edu	37	2	73316353	73316353	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73316353G>A	ENST00000258098.6	-	2	762	c.522C>T	c.(520-522)agC>agT	p.S174S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	174					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.S174S(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACATACTGGCGCTCAGGTTGT	0.517																																					p.S174S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	2						.						304.0	299.0	301.0					2																	73316353		2203	4300	6503	73169861	SO:0001819	synonymous_variant	26056	exon2			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.522C>T	2.37:g.73316353G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73169861	NM_015470	O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	CCDS1923.1																																																																																				0.517	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
SMYD5	10322	broad.mit.edu	37	2	73447284	73447284	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73447284G>A	ENST00000389501.4	+	3	356	c.311G>A	c.(310-312)cGc>cAc	p.R104H	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	104	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R104H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGCACTGTGCGCAAAGACCTC	0.592																																					p.R104H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	2						.						46.0	48.0	47.0					2																	73447284		2028	4185	6213	73300792	SO:0001583	missense	10322	exon3			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.311G>A	2.37:g.73447284G>A	ENSP00000374152:p.Arg104His	Somatic		Capture	Illumina HiSeq	Phase_I	73300792	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086629	0.55861	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T	0.44482	0.92	5.73	4.86	0.63082	SET domain (2);	0.113825	0.64402	D	0.000008	T	0.33760	0.0874	L	0.35723	1.085	0.53688	D	0.999978	B	0.19200	0.034	B	0.16289	0.015	T	0.08472	-1.0720	10	0.32370	T	0.25	-18.177	13.5691	0.61836	0.0751:0.0:0.9249:0.0	.	104	Q6GMV2	SMYD5_HUMAN	H	104;77	ENSP00000374152:R104H	ENSP00000374152:R104H	R	+	2	0	SMYD5	73300792	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.695000	0.54749	1.579000	0.49836	0.655000	0.94253	CGC		0.592	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
ALMS1	7840	broad.mit.edu	37	2	73676231	73676231	+	Silent	SNP	G	G	A	rs547563359		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73676231G>A	ENST00000264448.6	+	8	2685	c.2574G>A	c.(2572-2574)gcG>gcA	p.A858A	ALMS1_ENST00000377715.1_Silent_p.A858A|ALMS1_ENST00000409009.1_Silent_p.A816A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	858	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A858A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCCTCTGCGTCCTCTTCAC	0.488																																					p.A858A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2574A	2						.						80.0	83.0	82.0					2																	73676231		1895	4112	6007	73529739	SO:0001819	synonymous_variant	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2574G>A	2.37:g.73676231G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73529739	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73679850	73679850	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73679850G>T	ENST00000264448.6	+	8	6304	c.6193G>T	c.(6193-6195)Gat>Tat	p.D2065Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.D2065Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.D2023Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2065	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D2065Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCAGATAGAGATCAAAGTAA	0.373																																					p.D2065Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6193T	2						.						57.0	57.0	57.0					2																	73679850		1819	4051	5870	73533358	SO:0001583	missense	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6193G>T	2.37:g.73679850G>T	ENSP00000264448:p.Asp2065Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73533358	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949394	0.18356	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16897	3.18;3.18;2.31	4.01	2.18	0.27775	.	0.641420	0.13874	N	0.356792	T	0.19886	0.0478	L	0.27053	0.805	0.09310	N	1	P;D;D	0.52996	0.865;0.957;0.957	P;P;P	0.53185	0.508;0.72;0.72	T	0.09271	-1.0682	10	0.66056	D	0.02	.	10.733	0.46109	0.0:0.6796:0.3204:0.0	.	2065;2023;2065	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	2023;2065;2065	ENSP00000386627:D2023Y;ENSP00000264448:D2065Y;ENSP00000366944:D2065Y	ENSP00000264448:D2065Y	D	+	1	0	ALMS1	73533358	0.075000	0.21258	0.002000	0.10522	0.363000	0.29612	1.182000	0.32029	0.636000	0.30508	0.650000	0.86243	GAT		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73680674	73680674	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73680674G>A	ENST00000264448.6	+	8	7128	c.7017G>A	c.(7015-7017)acG>acA	p.T2339T	ALMS1_ENST00000377715.1_Silent_p.T2339T|ALMS1_ENST00000409009.1_Silent_p.T2297T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2339					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T2339T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCACACAGACGAATTTGAAAT	0.448																																					p.T2339T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7017A	2						.						56.0	52.0	53.0					2																	73680674		1873	4118	5991	73534182	SO:0001819	synonymous_variant	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7017G>A	2.37:g.73680674G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73534182	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73717662	73717662	+	Missense_Mutation	SNP	C	C	T	rs538382027		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73717662C>T	ENST00000264448.6	+	10	8684	c.8573C>T	c.(8572-8574)tCg>tTg	p.S2858L	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2816L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2858					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S2858L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAAACAGATCGAGTTCCAGA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20979	0.0		0.0	False		,,,				2504	0.001				p.S2858L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8573T	2						.						78.0	74.0	76.0					2																	73717662		1898	4099	5997	73571170	SO:0001583	missense	7840	exon10			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8573C>T	2.37:g.73717662C>T	ENSP00000264448:p.Ser2858Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73571170	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726437	0.30593	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07444	3.19;3.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	0.999995	P;B;P	0.47302	0.893;0.01;0.893	P;B;P	0.46510	0.519;0.003;0.519	T	0.33059	-0.9883	8	0.66056	D	0.02	.	.	.	.	.	2858;2816;2858	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2816;2858	ENSP00000386627:S2816L;ENSP00000264448:S2858L	ENSP00000264448:S2858L	S	+	2	0	ALMS1	73571170	0.613000	0.27009	0.199000	0.23439	0.853000	0.48598	-0.046000	0.11983	0.300000	0.22699	0.305000	0.20034	TCG		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73799578	73799578	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73799578A>G	ENST00000264448.6	+	16	10682	c.10571A>G	c.(10570-10572)cAc>cGc	p.H3524R	ALMS1_ENST00000409009.1_Missense_Mutation_p.H3482R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3524					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.H3524R(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATAGAGAACACATGTGTCTT	0.363																																					p.H3524R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10571G	2						.						82.0	75.0	77.0					2																	73799578		1880	4120	6000	73653086	SO:0001583	missense	7840	exon16			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10571A>G	2.37:g.73799578A>G	ENSP00000264448:p.His3524Arg	Somatic		Capture	Illumina HiSeq	Phase_I	73653086	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	1.677	-0.507414	0.04231	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05447	3.44;3.44	4.54	1.96	0.26148	.	0.415914	0.20739	N	0.086568	T	0.05090	0.0136	L	0.40543	1.245	0.09310	N	1	B;B;B	0.29037	0.231;0.231;0.231	B;B;B	0.27715	0.056;0.053;0.082	T	0.37663	-0.9696	10	0.32370	T	0.25	.	5.3388	0.15973	0.6408:0.1832:0.0:0.176	.	3524;3482;3524	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	R	3482;3524	ENSP00000386627:H3482R;ENSP00000264448:H3524R	ENSP00000264448:H3524R	H	+	2	0	ALMS1	73653086	0.008000	0.16893	0.000000	0.03702	0.048000	0.14542	2.428000	0.44749	0.287000	0.22375	0.533000	0.62120	CAC		0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73800333	73800333	+	Missense_Mutation	SNP	G	G	A	rs565098671		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:73800333G>A	ENST00000264448.6	+	16	11437	c.11326G>A	c.(11326-11328)Gaa>Aaa	p.E3776K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3734K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3776					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E3776K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCTCTGCACGAAAGGAGTAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19070	0.001		0.0	False		,,,				2504	0.0				p.E3776K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11326A	2						.						89.0	87.0	87.0					2																	73800333		1993	4173	6166	73653841	SO:0001583	missense	7840	exon16			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11326G>A	2.37:g.73800333G>A	ENSP00000264448:p.Glu3776Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73653841	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163406	0.78226	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.11385	2.79;2.78	5.52	5.52	0.82312	.	0.142165	0.32488	N	0.006037	T	0.22085	0.0532	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.62955	0.848;0.848;0.909	T	0.00128	-1.2017	10	0.66056	D	0.02	.	11.9474	0.52936	0.0:0.0:0.8265:0.1734	.	3776;3734;3776	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	3734;3776	ENSP00000386627:E3734K;ENSP00000264448:E3776K	ENSP00000264448:E3776K	E	+	1	0	ALMS1	73653841	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	3.962000	0.56766	2.610000	0.88304	0.655000	0.94253	GAA		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
STAMBP	10617	broad.mit.edu	37	2	74087188	74087188	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74087188C>A	ENST00000394070.2	+	9	1631	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L	STAMBP_ENST00000339566.3_Missense_Mutation_p.F376L|STAMBP_ENST00000394073.1_Missense_Mutation_p.F376L|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000409707.1_Missense_Mutation_p.F376L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	376					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.F376L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAACTGGATTCTTTAAACTAA	0.453																																					p.F376L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1128A	2						.						80.0	76.0	77.0					2																	74087188		2203	4300	6503	73940696	SO:0001583	missense	10617	exon10			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1128C>A	2.37:g.74087188C>A	ENSP00000377633:p.Phe376Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73940696	NM_006463	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334885	0.60853	.	.	ENSG00000124356	ENST00000339566;ENST00000409707;ENST00000394073;ENST00000394070	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.66	2.81	0.32909	.	0.062472	0.64402	D	0.000003	T	0.47340	0.1440	L	0.37800	1.135	0.58432	D	0.999999	B	0.29162	0.235	B	0.20955	0.032	T	0.36311	-0.9753	10	0.52906	T	0.07	-13.6921	9.0793	0.36542	0.0:0.7494:0.0:0.2506	.	376	O95630	STABP_HUMAN	L	376	ENSP00000344742:F376L;ENSP00000386548:F376L;ENSP00000377636:F376L;ENSP00000377633:F376L	ENSP00000344742:F376L	F	+	3	2	STAMBP	73940696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.942000	0.40243	0.290000	0.22444	0.655000	0.94253	TTC		0.453	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463	
TET3	200424	broad.mit.edu	37	2	74274283	74274283	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74274283G>A	ENST00000409262.3	+	1	834	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	278					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.E278E(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTGAAGAGCACTCATCTT	0.592																																					p.E278E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	2						.						67.0	70.0	69.0					2																	74274283		2010	4182	6192	74127791	SO:0001819	synonymous_variant	200424	exon1				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.834G>A	2.37:g.74274283G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74127791	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
SLC4A5	57835	broad.mit.edu	37	2	74450085	74450085	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74450085G>T	ENST00000451608.2	-	35	4474				SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000394019.2_Intron|SLC4A5_ENST00000377634.4_Intron|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000357822.5_Intron|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000423644.1_Intron														p.?(1)									TGGGGCTGGAGAAAAACAGTG	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						89.0	86.0	87.0					2																	74450085		2203	4300	6503	74303593	SO:0001627	intron_variant	57835	.																														ENST00000451608.2:c.574-6C>A	2.37:g.74450085G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74303593	.		Intron	SNP	ENST00000451608.2	37																																																																																					0.443	RP11-287D1.3-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445907.1		
SLC4A5	57835	broad.mit.edu	37	2	74454191	74454191	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74454191G>A	ENST00000377634.4	-	28	3430	c.3031C>T	c.(3031-3033)Cac>Tac	p.H1011Y	SLC4A5_ENST00000357822.5_Missense_Mutation_p.H1011Y|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.H995Y|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.H893Y|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000358683.4_Missense_Mutation_p.H893Y|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A935V					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.H995Y(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCGGCACGTGCCGCAGGAAG	0.647																																					p.H995Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2983T	2						.						46.0	43.0	44.0					2																	74454191		2203	4300	6503	74307699	SO:0001583	missense	57835	exon27			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3031C>T	2.37:g.74454191G>A	ENSP00000366861:p.His1011Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74307699	NM_133478		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.038056|4.038056	0.75617|0.75617	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000423644;ENST00000425249|ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634	T;T|T;T;T;T;T	0.71461|0.79554	-0.57;-0.28|-1.28;-1.11;-1.11;-1.28;-1.28	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Bicarbonate transporter, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88994|0.88994	0.6589|0.6589	M|M	0.73598|0.73598	2.24|2.24	0.38102|0.38102	D|D	0.937306|0.937306	B|P;D;P	0.24258|0.76494	0.1|0.84;0.999;0.843	B|P;D;B	0.24541|0.87578	0.054|0.54;0.998;0.413	D|D	0.89322|0.89322	0.3641|0.3641	9|10	0.87932|0.42905	D|T	0|0.14	.|.	16.3639|16.3639	0.83307|0.83307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	897|893;1011;995	E7EQT3|Q9BY07-7;Q9BY07;Q9BY07-3	.|.;S4A5_HUMAN;.	V|Y	935;897|995;1011;893;893;1011;1011	ENSP00000395804:A935V;ENSP00000405678:A897V|ENSP00000377587:H995Y;ENSP00000352461:H893Y;ENSP00000351513:H893Y;ENSP00000350475:H1011Y;ENSP00000366861:H1011Y	ENSP00000395804:A935V|ENSP00000350475:H1011Y	A|H	-|-	2|1	0|0	SLC4A5|SLC4A5	74307699|74307699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.799000|0.799000	0.45148|0.45148	9.647000|9.647000	0.98478|0.98478	2.726000|2.726000	0.93360|0.93360	0.637000|0.637000	0.83480|0.83480	GCA|CAC		0.647	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
SLC4A5	57835	broad.mit.edu	37	2	74469158	74469158	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74469158G>A	ENST00000377634.4	-	20	2480	c.2081C>T	c.(2080-2082)gCt>gTt	p.A694V	SLC4A5_ENST00000357822.5_Missense_Mutation_p.A694V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.A694V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A694V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A630V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A694V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A630V|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A694V					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.A694V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGGGCTGAAGCATTGAACAC	0.522																																					p.A694V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2081T	2						.						166.0	147.0	154.0					2																	74469158		2203	4300	6503	74322666	SO:0001583	missense	57835	exon20			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2081C>T	2.37:g.74469158G>A	ENSP00000366861:p.Ala694Val	Somatic		Capture	Illumina HiSeq	Phase_I	74322666	NM_133478		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715365	0.30413	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.4	4.51	0.55191	Bicarbonate transporter, C-terminal (1);	1.136950	0.06250	N	0.691963	T	0.63474	0.2514	N	0.10874	0.06	0.33354	D	0.571399	B;B;B;B;B	0.27853	0.004;0.063;0.001;0.011;0.191	B;B;B;B;B	0.27076	0.008;0.076;0.005;0.011;0.075	T	0.52946	-0.8507	10	0.14252	T	0.57	.	13.4691	0.61271	0.0:0.0:0.843:0.157	.	694;694;630;694;694	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	V	694;694;694;630;694;630;694;694;694;694	ENSP00000377587:A694V;ENSP00000251768:A694V;ENSP00000352461:A630V;ENSP00000395804:A694V;ENSP00000351513:A630V;ENSP00000350475:A694V;ENSP00000366859:A694V;ENSP00000366861:A694V;ENSP00000405678:A694V	ENSP00000251768:A694V	A	-	2	0	SLC4A5	74322666	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.886000	0.39688	1.487000	0.48415	0.655000	0.94253	GCT		0.522	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
MOGS	7841	broad.mit.edu	37	2	74690333	74690333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74690333C>T	ENST00000233616.4	-	3	922	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	MOGS_ENST00000409065.1_Intron|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.A148T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	254					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.A254T(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TACTTGGGGGCTGTATCCCCT	0.537																																					p.A148T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	2						.						113.0	118.0	116.0					2																	74690333		1988	4185	6173	74543841	SO:0001583	missense	7841	exon4			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.760G>A	2.37:g.74690333C>T	ENSP00000233616:p.Ala254Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74543841	NM_001146158	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	2.875	-0.233136	0.05983	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666;ENST00000414701	T;T;T;T	0.37235	1.21;1.21;1.57;1.94	4.85	-1.05	0.10036	.	0.512050	0.21999	N	0.066031	T	0.13114	0.0318	N	0.04090	-0.28	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32268	-0.9913	10	0.09843	T	0.71	-0.0235	9.5129	0.39087	0.0:0.5374:0.0:0.4626	.	254	Q13724	MOGS_HUMAN	T	254;148;148;135	ENSP00000233616:A254T;ENSP00000388201:A148T;ENSP00000410992:A148T;ENSP00000396298:A135T	ENSP00000233616:A254T	A	-	1	0	MOGS	74543841	0.000000	0.05858	0.018000	0.16275	0.575000	0.36095	0.057000	0.14279	-0.464000	0.06963	-0.137000	0.14449	GCC		0.537	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302	
LOXL3	84695	broad.mit.edu	37	2	74763973	74763973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74763973A>G	ENST00000264094.3	-	5	846	c.775T>C	c.(775-777)Tcc>Ccc	p.S259P	LOXL3_ENST00000409249.1_Missense_Mutation_p.S259P|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409549.1_Missense_Mutation_p.S259P|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	259	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.S259P(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AACTCCAGGGAACAGAGGGAG	0.657																																					p.S259P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T775C	2						.						56.0	59.0	58.0					2																	74763973		2203	4300	6503	74617481	SO:0001583	missense	84695	exon5			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.775T>C	2.37:g.74763973A>G	ENSP00000264094:p.Ser259Pro	Somatic		Capture	Illumina HiSeq	Phase_I	74617481	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573634	0.28092	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.5	-0.872	0.10638	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.133540	0.52532	D	0.000074	T	0.08935	0.0221	N	0.02345	-0.59	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.14023	0.01;0.001	T	0.16808	-1.0390	10	0.09084	T	0.74	.	0.1375	0.00080	0.3521:0.1582:0.1833:0.3064	.	259;259	E7END4;P58215	.;LOXL3_HUMAN	P	259	ENSP00000264094:S259P;ENSP00000387103:S259P;ENSP00000386696:S259P;ENSP00000398260:S259P	ENSP00000264094:S259P	S	-	1	0	LOXL3	74617481	0.900000	0.30661	0.986000	0.45419	0.995000	0.86356	0.198000	0.17217	-0.006000	0.14370	0.383000	0.25322	TCC		0.657	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
M1AP	130951	broad.mit.edu	37	2	74842229	74842229	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74842229G>T	ENST00000290536.5	-	3	404	c.288C>A	c.(286-288)ctC>ctA	p.L96L	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.L96L|M1AP_ENST00000536235.1_Silent_p.L96L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	96					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L96L(1)									GTAACATGCGGAGTTCTGAGA	0.473																																					p.L96L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288A	2						.						178.0	166.0	170.0					2																	74842229		2203	4300	6503	74695737	SO:0001819	synonymous_variant	130951	exon3				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.288C>A	2.37:g.74842229G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74695737	NM_138804	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	CCDS33229.1																																																																																				0.473	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804	
SEMA4F	10505	broad.mit.edu	37	2	74900673	74900673	+	Missense_Mutation	SNP	C	C	T	rs375899286		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:74900673C>T	ENST00000357877.2	+	6	789	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	214	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.R214W(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGACTGGATTCGGACAGATAC	0.602																																					p.R214W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C640T	2						.	C	TRP/ARG	0,4406		0,0,2203	64.0	58.0	60.0		640	4.5	1.0	2		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA4F	NM_004263.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	214/771	74900673	1,13005	2203	4300	6503	74754181	SO:0001583	missense	10505	exon6			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.640C>T	2.37:g.74900673C>T	ENSP00000350547:p.Arg214Trp	Somatic		Capture	Illumina HiSeq	Phase_I	74754181	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973947	0.74246	0.0	1.16E-4	ENSG00000135622	ENST00000357877	T	0.13778	2.56	4.46	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000003	T	0.43897	0.1268	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.53244	-0.8466	10	0.66056	D	0.02	.	12.493	0.55912	0.0:1.0:0.0:0.0	.	214	O95754	SEM4F_HUMAN	W	214	ENSP00000350547:R214W	ENSP00000350547:R214W	R	+	1	2	SEMA4F	74754181	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.396000	0.52565	2.323000	0.78572	0.462000	0.41574	CGG		0.602	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
HK2	3099	broad.mit.edu	37	2	75116577	75116577	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:75116577G>T	ENST00000290573.2	+	17	3181	c.2581G>T	c.(2581-2583)Gat>Tat	p.D861Y	HK2_ENST00000409174.1_Missense_Mutation_p.D833Y	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	861	Catalytic.|Glucose-6-phosphate 2 binding.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.D861Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGTGGGTGTGGATGGGACCCT	0.577																																					p.D861Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2581T	2						.						93.0	80.0	84.0					2																	75116577		2203	4300	6503	74970085	SO:0001583	missense	3099	exon17				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2581G>T	2.37:g.75116577G>T	ENSP00000290573:p.Asp861Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	74970085	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488284	0.84854	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98345	-4.88;-4.88	4.97	4.97	0.65823	Hexokinase, C-terminal (1);	0.094859	0.64402	D	0.000001	D	0.99426	0.9797	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98106	1.0417	10	0.87932	D	0	-9.8499	15.7654	0.78123	0.0:0.0:1.0:0.0	.	861	P52789	HXK2_HUMAN	Y	861;861;833	ENSP00000290573:D861Y;ENSP00000387140:D833Y	ENSP00000290573:D861Y	D	+	1	0	HK2	74970085	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.601000	0.98297	2.596000	0.87737	0.561000	0.74099	GAT		0.577	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
TACR1	6869	broad.mit.edu	37	2	75347750	75347750	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:75347750G>A	ENST00000305249.5	-	2	1299	c.534C>T	c.(532-534)gtC>gtT	p.V178V	TACR1_ENST00000409848.3_Silent_p.V178V|TACR1_ENST00000497764.1_5'UTR	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	178					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.V178V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCATGCACACGACTCTGCTGG	0.542																																					p.V178V	Pancreas(64;62 1268 3653 14826 43765)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C534T	2						.						99.0	89.0	92.0					2																	75347750		2203	4300	6503	75201258	SO:0001819	synonymous_variant	6869	exon2			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.534C>T	2.37:g.75347750G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75201258	NM_015727	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.542	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
GCFC2	6936	broad.mit.edu	37	2	75897403	75897403	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:75897403C>T	ENST00000321027.3	-	15	2097	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.R617H|RP11-342K6.2_ENST00000604219.1_RNA|MRPL19_ENST00000409374.1_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	655					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R655H(1)									AAGAATATTGCGGAAGAGCTA	0.343																																					p.R655H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1964A	2						.						88.0	91.0	90.0					2																	75897403		2203	4300	6503	75750911	SO:0001583	missense	6936	exon15			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1964G>A	2.37:g.75897403C>T	ENSP00000318690:p.Arg655His	Somatic		Capture	Illumina HiSeq	Phase_I	75750911	NM_003203	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	1.246	-0.619916	0.03636	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.45276	0.9;0.9;0.9	4.65	-1.69	0.08186	GC-rich sequence DNA-binding factor domain (1);	1.249340	0.05013	N	0.471298	T	0.41581	0.1165	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40905	-0.9538	10	0.42905	T	0.14	4.6753	11.015	0.47682	0.0:0.5051:0.0:0.4949	.	655	P16383	GCF_HUMAN	H	655;617;73	ENSP00000318690:R655H;ENSP00000386552:R617H;ENSP00000409340:R73H	ENSP00000318690:R655H	R	-	2	0	C2orf3	75750911	0.000000	0.05858	0.005000	0.12908	0.078000	0.17371	-0.424000	0.07025	-0.641000	0.05487	-1.094000	0.02160	CGC		0.343	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
GCFC2	6936	broad.mit.edu	37	2	75933785	75933785	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:75933785G>A	ENST00000321027.3	-	2	399				GCFC2_ENST00000470503.1_Intron|GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.?(1)									ATTCTAACAGGACATTTTAAA	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						72.0	70.0	70.0					2																	75933785		2203	4300	6503	75787293	SO:0001627	intron_variant	6936	.			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.266-8C>T	2.37:g.75933785G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75787293	.	A4UHQ8|O95032|Q53TY0|Q6P2F2	Intron	SNP	ENST00000321027.3	37	CCDS1961.1																																																																																				0.328	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
LRRTM4	80059	broad.mit.edu	37	2	76975860	76975860	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:76975860C>T	ENST00000409093.1	-	4	2070	c.1734G>A	c.(1732-1734)tcG>tcA	p.S578S	LRRTM4_ENST00000409884.1_Silent_p.S578S|LRRTM4_ENST00000409911.1_Silent_p.S579S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	578					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S578S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGGTGCTGCCGACCTGGCGA	0.592																																					p.S578S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1734A	2						.						149.0	137.0	140.0					2																	76975860		1568	3582	5150	76829368	SO:0001819	synonymous_variant	80059	exon4			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1734G>A	2.37:g.76975860C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76829368	NM_001134745	Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	CCDS46346.1																																																																																				0.592	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
LRRTM4	80059	broad.mit.edu	37	2	77746572	77746572	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:77746572G>T	ENST00000409093.1	-	3	759	c.423C>A	c.(421-423)tcC>tcA	p.S141S	LRRTM4_ENST00000409884.1_Silent_p.S141S|LRRTM4_ENST00000409088.3_Silent_p.S141S|LRRTM4_ENST00000409282.1_Silent_p.S142S|LRRTM4_ENST00000409911.1_Silent_p.S142S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	141					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S141S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTTATTGTAGGAGAGGTCCA	0.383																																					p.S141S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C423A	2						.						98.0	88.0	91.0					2																	77746572		1853	4088	5941	77600080	SO:0001819	synonymous_variant	80059	exon3			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.423C>A	2.37:g.77746572G>T		Somatic		Capture	Illumina HiSeq	Phase_I	77600080	NM_024993	Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	CCDS46346.1																																																																																				0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
REG3G	130120	broad.mit.edu	37	2	79254222	79254222	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:79254222C>A	ENST00000272324.5	+	4	442	c.258C>A	c.(256-258)tcC>tcA	p.S86S	REG3G_ENST00000393897.2_Silent_p.S86S|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	86	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.S86S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGAGGGATCCTTCGTGTCCT	0.547																																					p.S86S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258A	2						.						167.0	152.0	157.0					2																	79254222		2203	4300	6503	79107730	SO:0001819	synonymous_variant	130120	exon4			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.258C>A	2.37:g.79254222C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79107730	NM_001008387	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent	SNP	ENST00000272324.5	37	CCDS1962.1																																																																																				0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448	
REG3A	5068	broad.mit.edu	37	2	79384370	79384370	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:79384370G>T	ENST00000409839.3	-	6	546	c.510C>A	c.(508-510)gtC>gtA	p.V170V	REG3A_ENST00000393878.1_Silent_p.V170V|REG3A_ENST00000305165.2_Silent_p.V170V|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	170	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.V170V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGAACTTGCAGACATAGGGTA	0.478																																					p.V170V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510A	2						.						111.0	104.0	106.0					2																	79384370		2203	4300	6503	79237878	SO:0001819	synonymous_variant	5068	exon6			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.510C>A	2.37:g.79384370G>T		Somatic		Capture	Illumina HiSeq	Phase_I	79237878	NM_002580		Silent	SNP	ENST00000409839.3	37	CCDS1965.1																																																																																				0.478	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580	
CTNNA2	1496	broad.mit.edu	37	2	80136930	80136930	+	Intron	SNP	C	C	A	rs371557435		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:80136930C>A	ENST00000402739.4	+	6	1061				CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.?(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TAATGTAAGTCTTGGGATCTC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17652	0.0		0.0	False		,,,				2504	0.0				.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.	C	,	2,4092		0,2,2045	34.0	38.0	37.0		,	2.5	0.7	2		37	0,8418		0,0,4209	no	intron,intron	CTNNA2	NM_001164883.1,NM_004389.3	,	0,2,6254	AA,AC,CC		0.0,0.0489,0.016	,	,	80136930	2,12510	2047	4209	6256	79990441	SO:0001627	intron_variant	1496	.				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1056+7C>A	2.37:g.80136930C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79990441	.	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Intron	SNP	ENST00000402739.4	37																																																																																					0.532	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
TRABD2A	129293	broad.mit.edu	37	2	85051313	85051313	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:85051313C>A	ENST00000409520.2	-	6	1140	c.1098G>T	c.(1096-1098)aaG>aaT	p.K366N	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.K317N	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	366					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.K366N(1)|p.K317N(1)									GTGTGGAGGTCTTTTTACTCT	0.562																																					p.K317N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G951T	2						.						70.0	76.0	74.0					2																	85051313		2111	4247	6358	84904824	SO:0001583	missense	129293	exon5			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1098G>T	2.37:g.85051313C>A	ENSP00000387075:p.Lys366Asn	Somatic		Capture	Illumina HiSeq	Phase_I	84904824	NM_001080824	B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37		.	.	.	.	.	.	.	.	.	.	c	6.783	0.513346	0.12944	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.24538	1.85;1.88	3.29	-3.28	0.05033	.	8.126150	0.00597	U	0.000366	T	0.13628	0.0330	.	.	.	0.09310	N	1	B;B	0.20988	0.047;0.05	B;B	0.18871	0.012;0.023	T	0.11542	-1.0583	9	0.27082	T	0.32	.	2.6375	0.04962	0.1804:0.2385:0.4563:0.1248	.	366;317	Q86V40;Q86V40-2	CB089_HUMAN;.	N	317;366	ENSP00000335004:K317N;ENSP00000387075:K366N	ENSP00000335004:K317N	K	-	3	2	C2orf89	84904824	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.629000	0.05508	-0.404000	0.07610	0.298000	0.19748	AAG		0.562	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824	
KCMF1	56888	broad.mit.edu	37	2	85262221	85262221	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:85262221G>A	ENST00000409785.4	+	3	626	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	89							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T89T(1)		ovary(3)	3						TGGGCTATACGGAGACATCTC	0.383																																					p.T89T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G267A	2						.						88.0	79.0	82.0					2																	85262221		1865	4106	5971	85115732	SO:0001819	synonymous_variant	56888	exon3			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.267G>A	2.37:g.85262221G>A		Somatic		Capture	Illumina HiSeq	Phase_I	85115732	NM_020122	Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	CCDS46350.1																																																																																				0.383	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122	
TCF7L1	83439	broad.mit.edu	37	2	85510708	85510708	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:85510708C>A	ENST00000282111.3	+	4	800					NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)						anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTTGGTAAGTCTGTTTCACCT	0.552																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						187.0	165.0	172.0					2																	85510708		2203	4300	6503	85364219	SO:0001627	intron_variant	83439	.			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.525+7C>A	2.37:g.85510708C>A		Somatic		Capture	Illumina HiSeq	Phase_I	85364219	.	Q53R97|Q6PD70|Q9NP00	Intron	SNP	ENST00000282111.3	37	CCDS1971.1																																																																																				0.552	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283	
RETSAT	54884	broad.mit.edu	37	2	85578797	85578797	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:85578797C>T	ENST00000295802.4	-	2	468				RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)						oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.?(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCCACACAAGCCTTACCTGTG	0.502																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						125.0	109.0	114.0					2																	85578797		2203	4300	6503	85432308	SO:0001627	intron_variant	54884	.			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.355+5G>A	2.37:g.85578797C>T		Somatic		Capture	Illumina HiSeq	Phase_I	85432308	.	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Intron	SNP	ENST00000295802.4	37	CCDS1972.1																																																																																				0.502	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750	
POLR1A	25885	broad.mit.edu	37	2	86269164	86269164	+	Silent	SNP	G	G	A	rs141026251	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86269164G>A	ENST00000263857.6	-	24	3798	c.3420C>T	c.(3418-3420)gcC>gcT	p.A1140A	POLR1A_ENST00000409681.1_Silent_p.A1140A			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1140					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.A1140A(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGGACAAGCGGCCGCCTTCT	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0				p.A1140A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3420T	2						.	G		6,3872		0,6,1933	190.0	186.0	187.0		3420	-1.8	0.0	2	dbSNP_134	187	0,8270		0,0,4135	no	coding-synonymous	POLR1A	NM_015425.3		0,6,6068	AA,AG,GG		0.0,0.1547,0.0494		1140/1721	86269164	6,12142	1939	4135	6074	86122675	SO:0001819	synonymous_variant	25885	exon24			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3420C>T	2.37:g.86269164G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86122675	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	CCDS42706.1																																																																																				0.488	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
POLR1A	25885	broad.mit.edu	37	2	86297146	86297146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86297146G>A	ENST00000263857.6	-	13	2239	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S	POLR1A_ENST00000409681.1_Missense_Mutation_p.P621S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	621					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.P621S(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTACCTTGGGAACAAGGTAC	0.587																																					p.P621S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1861T	2						.						36.0	38.0	37.0					2																	86297146		2054	4179	6233	86150657	SO:0001583	missense	25885	exon13			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1861C>T	2.37:g.86297146G>A	ENSP00000263857:p.Pro621Ser	Somatic		Capture	Illumina HiSeq	Phase_I	86150657	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153348	0.78114	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.84370	-1.84;-1.84	5.3	5.3	0.74995	RNA polymerase Rpb1, domain 3 (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94877	0.8035	10	0.52906	T	0.07	-22.3739	18.5668	0.91119	0.0:0.0:1.0:0.0	.	621	O95602	RPA1_HUMAN	S	621	ENSP00000263857:P621S;ENSP00000386300:P621S	ENSP00000263857:P621S	P	-	1	0	POLR1A	86150657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	2.479000	0.83701	0.655000	0.94253	CCC		0.587	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
PTCD3	55037	broad.mit.edu	37	2	86352131	86352131	+	Missense_Mutation	SNP	G	G	A	rs139051130		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86352131G>A	ENST00000254630.7	+	10	796	c.730G>A	c.(730-732)Gct>Act	p.A244T	PTCD3_ENST00000409277.3_Silent_p.T202T	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	244					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.A244T(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAAAAACAACGCTGAGAGAAT	0.358																																					p.A244T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	2						.	G	THR/ALA	0,4406		0,0,2203	92.0	88.0	90.0		730	5.6	1.0	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTCD3	NM_017952.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	244/690	86352131	1,13005	2203	4300	6503	86205642	SO:0001583	missense	55037	exon10				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.730G>A	2.37:g.86352131G>A	ENSP00000254630:p.Ala244Thr	Somatic		Capture	Illumina HiSeq	Phase_I	86205642	NM_017952	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631646	0.87660	0.0	1.16E-4	ENSG00000132300	ENST00000254630	T	0.31769	1.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75897	-0.3155	10	0.22706	T	0.39	-15.2375	18.4531	0.90711	0.0:0.0:1.0:0.0	.	244	Q96EY7	PTCD3_HUMAN	T	244	ENSP00000254630:A244T	ENSP00000254630:A244T	A	+	1	0	PTCD3	86205642	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	8.192000	0.89718	2.654000	0.90174	0.655000	0.94253	GCT		0.358	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952	
PTCD3	55037	broad.mit.edu	37	2	86359542	86359542	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86359542C>A	ENST00000254630.7	+	17	1434	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	456					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.F456L(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						ATCGTAATTTCTATTAGTAAG	0.423																																					p.F456L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1368A	2						.						144.0	138.0	140.0					2																	86359542		2203	4300	6503	86213053	SO:0001583	missense	55037	exon17				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1368C>A	2.37:g.86359542C>A	ENSP00000254630:p.Phe456Leu	Somatic		Capture	Illumina HiSeq	Phase_I	86213053	NM_017952	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857898	0.32791	.	.	ENSG00000132300	ENST00000254630	T	0.29655	1.56	6.04	2.28	0.28536	.	0.415206	0.28176	N	0.016314	T	0.26484	0.0647	M	0.72479	2.2	0.80722	D	1	B;B	0.27117	0.168;0.105	B;B	0.26094	0.066;0.019	T	0.13602	-1.0503	10	0.51188	T	0.08	-7.7374	1.305	0.02086	0.2562:0.4118:0.1242:0.2078	.	47;456	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	L	456	ENSP00000254630:F456L	ENSP00000254630:F456L	F	+	3	2	PTCD3	86213053	0.167000	0.22975	0.993000	0.49108	0.796000	0.44982	0.338000	0.19858	0.152000	0.19188	-0.217000	0.12591	TTC		0.423	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952	
IMMT	10989	broad.mit.edu	37	2	86373281	86373281	+	Missense_Mutation	SNP	G	G	A	rs114088948		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86373281G>A	ENST00000410111.3	-	14	1960	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	IMMT_ENST00000449247.2_Missense_Mutation_p.R514C|IMMT_ENST00000442664.2_Missense_Mutation_p.R524C|IMMT_ENST00000409051.2_Missense_Mutation_p.R478C|IMMT_ENST00000254636.5_Missense_Mutation_p.R426C	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	525					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.R525C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGAGACGACGAAATTGTAAT	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15565	0.0		0.0	False		,,,				2504	0.0				p.R524C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1570T	2						.						70.0	65.0	67.0					2																	86373281		1825	4092	5917	86226792	SO:0001583	missense	10989	exon14			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1573C>T	2.37:g.86373281G>A	ENSP00000387262:p.Arg525Cys	Somatic		Capture	Illumina HiSeq	Phase_I	86226792	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	20.2|20.2	3.946898|3.946898	0.73672|0.73672	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.36340|.	1.26;1.27;1.27;1.27;1.3|.	5.84|5.84	4.89|4.89	0.63831|0.63831	.|.	0.173526|.	0.50627|.	D|.	0.000112|.	T|T	0.70133|0.70133	0.3189|0.3189	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.958;0.991;0.999;0.972;0.972;0.958|.	B;P;D;P;P;P|.	0.70935|.	0.443;0.844;0.971;0.597;0.742;0.832|.	T|T	0.68044|0.68044	-0.5513|-0.5513	10|5	0.66056|.	D|.	0.02|.	-5.4295|-5.4295	13.7623|13.7623	0.62973|0.62973	0.0:0.0:0.7149:0.2851|0.0:0.0:0.7149:0.2851	.|.	478;513;427;514;493;525|.	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;IMMT_HUMAN|.	C|L	426;514;525;524;478;514;493;426|379	ENSP00000254636:R426C;ENSP00000396899:R514C;ENSP00000387262:R525C;ENSP00000407788:R524C;ENSP00000387227:R478C|.	ENSP00000254636:R426C|.	R|S	-|-	1|2	0|0	IMMT|IMMT	86226792|86226792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.361000|4.361000	0.59461|0.59461	2.768000|2.768000	0.95171|0.95171	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.378	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
CHMP3	51652	broad.mit.edu	37	2	86790445	86790445	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:86790445C>A	ENST00000263856.4	-	1	155	c.27G>T	c.(25-27)gaG>gaT	p.E9D	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Missense_Mutation_p.E9D|CHMP3_ENST00000439940.2_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	9	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E9D(1)									TGGGCGGCTTCTCCTGGGTCT	0.607																																					p.E9D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G27T	2						.						127.0	132.0	130.0					2																	86790445		2203	4300	6503	86643956	SO:0001583	missense	51652	exon1			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.27G>T	2.37:g.86790445C>A	ENSP00000263856:p.Glu9Asp	Somatic		Capture	Illumina HiSeq	Phase_I	86643956	NM_001193517	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409187	0.42715	.	.	ENSG00000115561	ENST00000263856;ENST00000409727	D;D	0.89343	-2.46;-2.5	5.84	4.97	0.65823	.	0.103686	0.64402	D	0.000003	T	0.79873	0.4521	N	0.16368	0.405	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.74315	-0.3705	10	0.41790	T	0.15	.	10.7955	0.46457	0.0:0.9128:0.0:0.0872	.	9;9	Q9Y3E7-4;Q9Y3E7	.;CHMP3_HUMAN	D	9	ENSP00000263856:E9D;ENSP00000387045:E9D	ENSP00000263856:E9D	E	-	3	2	VPS24	86643956	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.319000	0.33655	1.463000	0.47967	0.655000	0.94253	GAG		0.607	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079	
CD8B	926	broad.mit.edu	37	2	87085303	87085303	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:87085303G>A	ENST00000390655.6	-	2	338	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CD8B_ENST00000393761.2_Missense_Mutation_p.R94W|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.R94W|CD8B_ENST00000393759.2_Missense_Mutation_p.R94W|CD8B_ENST00000349455.3_Missense_Mutation_p.R94W	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	94	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.R94W(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGCATCCCGAAACACAGCT	0.557																																					p.R94W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	2						.						108.0	98.0	101.0					2																	87085303		2203	4297	6500	86938814	SO:0001583	missense	926	exon2				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.280C>T	2.37:g.87085303G>A	ENSP00000375070:p.Arg94Trp	Somatic		Capture	Illumina HiSeq	Phase_I	86938814	NM_004931	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152097	0.57259	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.35	1.25	0.21368	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.173270	0.01667	N	0.025437	T	0.77552	0.4147	M	0.68317	2.08	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;P;P;D	0.67725	0.947;0.953;0.91;0.747;0.818;0.922	T	0.51671	-0.8676	10	0.66056	D	0.02	3.5479	2.5809	0.04818	0.1111:0.1835:0.517:0.1884	.	94;94;94;94;94;94	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	W	94	ENSP00000377358:R94W;ENSP00000377356:R94W;ENSP00000340592:R94W;ENSP00000331172:R94W;ENSP00000375070:R94W	ENSP00000331172:R94W	R	-	1	2	CD8B	86938814	0.000000	0.05858	0.001000	0.08648	0.217000	0.24651	-0.381000	0.07417	0.271000	0.22005	0.555000	0.69702	CGG		0.557	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099	
SMYD1	150572	broad.mit.edu	37	2	88405960	88405960	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:88405960C>A	ENST00000419482.2	+	8	1183	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A353A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	366					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.A366A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACCTCCAGGCCTTTGAGGAGG	0.532																																					p.A366A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1098A	2						.						155.0	128.0	137.0					2																	88405960		2203	4300	6503	88187075	SO:0001819	synonymous_variant	150572	exon8			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1098C>A	2.37:g.88405960C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88187075	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.532	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	
RPIA	22934	broad.mit.edu	37	2	89035207	89035207	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:89035207G>T	ENST00000283646.4	+	6	604	c.549G>T	c.(547-549)aaG>aaT	p.K183N		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	183					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.K183N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CCCAGGAGAAGATTGTGGCTG	0.478																																					p.K183N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G549T	2						.						225.0	216.0	219.0					2																	89035207		1958	4156	6114	88816322	SO:0001583	missense	22934	exon6			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.549G>T	2.37:g.89035207G>T	ENSP00000283646:p.Lys183Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88816322	NM_144563	Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923783	0.73213	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	D	0.88975	-2.45	5.59	2.51	0.30379	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95102	0.8231	10	0.87932	D	0	-21.1093	11.4421	0.50102	0.243:0.0:0.757:0.0	.	183	P49247	RPIA_HUMAN	N	183;49	ENSP00000283646:K183N	ENSP00000283646:K183N	K	+	3	2	RPIA	88816322	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	1.683000	0.37638	0.178000	0.19917	0.655000	0.94253	AAG		0.478	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
IGKV1-9	28941	broad.mit.edu	37	2	89309951	89309951	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:89309951C>A	ENST00000493819.1	-	0	61									immunoglobulin kappa variable 1-9																		ACCCTCATGTCCATGCTGTGT	0.567																																					.												.	.	0			.	2						.						71.0	69.0	70.0					2																	89309951		1825	4041	5866	89091066			0	.			Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309951C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89091066	.		IGR	SNP	ENST00000493819.1	37																																																																																					0.567	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834	
IGKV3-20	28912	broad.mit.edu	37	2	89442234	89442234	+	RNA	SNP	G	G	A	rs11546039	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:89442234G>A	ENST00000492167.1	-	0	222									immunoglobulin kappa variable 3-20																		GTTTCTGCTGGTACCAGGCTA	0.602													G|||	5	0.000998403	0.0008	0.0014	5008	,	,		11599	0.0		0.003	False		,,,				2504	0.0				.												.	.	0			.	2						.						61.0	63.0	63.0					2																	89442234		1926	4139	6065	89223349			0	.			X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442234G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89223349	.		IGR	SNP	ENST00000492167.1	37																																																																																					0.602	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834	
IGKV3D-20	28874	broad.mit.edu	37	2	90078048	90078048	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:90078048G>A	ENST00000390270.2	+	0	182									immunoglobulin kappa variable 3D-20																		GCAGTCTCCAGCCACCCTGTC	0.502																																					.												.	.	0			.	2						.						90.0	91.0	91.0					2																	90078048		1878	4114	5992	89715353			0	.			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078048G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89715353	.		IGR	SNP	ENST00000390270.2	37																																																																																					0.502	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833	
IGKV3D-20	28874	broad.mit.edu	37	2	90078272	90078272	+	RNA	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:90078272T>G	ENST00000390270.2	+	0	406									immunoglobulin kappa variable 3D-20																		AGCCTGAAGATTTTGCAGTGT	0.483																																					.												.	.	0			.	2						.						30.0	29.0	29.0					2																	90078272		1811	4045	5856	89715577			0	.			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078272T>G		Somatic		Capture	Illumina HiSeq	Phase_I	89715577	.		IGR	SNP	ENST00000390270.2	37																																																																																					0.483	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833	
IGKV6D-41	28869	broad.mit.edu	37	2	90109003	90109003	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:90109003G>T	ENST00000390271.2	+	0	294									immunoglobulin kappa variable 6D-41 (non-functional)																		ATCTGGGACAGATTTCACCTT	0.512																																					.												.	.	0			.	2						.						95.0	99.0	98.0					2																	90109003		1919	4126	6045	89746308			0	.			X12688		2p11.2	2012-02-10	2008-09-10		ENSG00000211626	ENSG00000211626		"""Immunoglobulins / IGK locus"""	5838	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-41"""				Standard	NG_000833		Approved				OTTHUMG00000151621		2.37:g.90109003G>T		Somatic		Capture	Illumina HiSeq	Phase_I	89746308	.		IGR	SNP	ENST00000390271.2	37																																																																																					0.512	IGKV6D-41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323293.1	NG_000833	
IGKV1D-13	28902	broad.mit.edu	37	2	90193180	90193180	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:90193180C>A	ENST00000390275.2	+	0	287									immunoglobulin kappa variable 1D-13																		CTGTCTGCATCTGTAGGAGAC	0.502																																					.												.	.	0			.	2						.						51.0	42.0	45.0					2																	90193180		1798	4013	5811	89830485			0	.			X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193180C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89830485	.		IGR	SNP	ENST00000390275.2	37																																																																																					0.502	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833	
IGKV1D-13	28902	broad.mit.edu	37	2	90193383	90193383	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:90193383G>T	ENST00000390275.2	+	0	490									immunoglobulin kappa variable 1D-13																		GCAGCCTGAAGATTTTGCAAC	0.478																																					.												.	.	0			.	2						.						27.0	21.0	23.0					2																	90193383		1776	4015	5791	89830688			0	.			X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193383G>T		Somatic		Capture	Illumina HiSeq	Phase_I	89830688	.		IGR	SNP	ENST00000390275.2	37																																																																																					0.478	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833	
TEKT4	150483	broad.mit.edu	37	2	95541392	95541392	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:95541392G>T	ENST00000295201.4	+	5	1133	c.996G>T	c.(994-996)aaG>aaT	p.K332N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	332					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.K332N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGCCATCAAGGACAAAGAGG	0.617																																					p.K332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G996T	2						.						205.0	166.0	180.0					2																	95541392		2203	4300	6503	94905119	SO:0001583	missense	150483	exon5			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.996G>T	2.37:g.95541392G>T	ENSP00000295201:p.Lys332Asn	Somatic		Capture	Illumina HiSeq	Phase_I	94905119	NM_144705		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	7.135	0.580707	0.13686	.	.	ENSG00000163060	ENST00000295201	T	0.02631	4.22	2.31	1.39	0.22231	.	0.253782	0.39274	N	0.001416	T	0.02156	0.0067	L	0.38175	1.15	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.50074	-0.8870	10	0.28530	T	0.3	-36.1512	2.5145	0.04665	0.1768:0.0:0.5304:0.2928	.	332	Q8WW24	TEKT4_HUMAN	N	332	ENSP00000295201:K332N	ENSP00000295201:K332N	K	+	3	2	TEKT4	94905119	0.528000	0.26314	1.000000	0.80357	0.561000	0.35649	0.090000	0.15025	1.314000	0.45095	0.281000	0.19383	AAG		0.617	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
MRPS5	64969	broad.mit.edu	37	2	95753105	95753105	+	Silent	SNP	C	C	T	rs527966814	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:95753105C>T	ENST00000272418.2	-	12	1498	c.1290G>A	c.(1288-1290)acG>acA	p.T430T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	430					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T430T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGAGAGGTTACGTGGCGGCTC	0.527													C|||	3	0.000599042	0.0	0.0	5008	,	,		17439	0.003		0.0	False		,,,				2504	0.0				p.T430T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A	2						.						62.0	63.0	63.0					2																	95753105		2203	4300	6503	95116832	SO:0001819	synonymous_variant	64969	exon12			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1290G>A	2.37:g.95753105C>T		Somatic		Capture	Illumina HiSeq	Phase_I	95116832	NM_031902	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	CCDS2010.1																																																																																				0.527	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
ZNF514	84874	broad.mit.edu	37	2	95815897	95815897	+	Silent	SNP	C	C	T	rs368048095		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:95815897C>T	ENST00000295208.2	-	5	795	c.333G>A	c.(331-333)tcG>tcA	p.S111S	ZNF514_ENST00000411425.1_Silent_p.S111S|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	111					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)	p.S111S(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						CTTTCAACTTCGAGAACTGCA	0.423																																					p.S111S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	2						.	G		0,4406		0,0,2203	137.0	135.0	136.0		333	-0.1	0.0	2		136	1,8599		0,1,4299	no	coding-synonymous	ZNF514	NM_032788.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		111/401	95815897	1,13005	2203	4300	6503	95179624	SO:0001819	synonymous_variant	84874	exon5			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.333G>A	2.37:g.95815897C>T		Somatic		Capture	Illumina HiSeq	Phase_I	95179624	NM_032788	Q5JPJ3	Silent	SNP	ENST00000295208.2	37	CCDS2011.1																																																																																				0.423	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788	
ZNF2	7549	broad.mit.edu	37	2	95847397	95847397	+	Missense_Mutation	SNP	G	G	A	rs377134231		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:95847397G>A	ENST00000340539.5	+	5	1286	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	ZNF2_ENST00000398107.2_Missense_Mutation_p.R233Q|ZNF2_ENST00000453539.2_Missense_Mutation_p.R288Q|ZNF2_ENST00000425369.1_Missense_Mutation_p.R195Q|ZNF2_ENST00000295210.6_Missense_Mutation_p.R237Q	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R275Q(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TCCCTTACTCGACACCAGAGA	0.458																																					p.R233Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G698A	2						.	G	GLN/ARG,GLN/ARG	0,4378		0,0,2189	85.0	95.0	92.0		698,824	4.3	0.6	2		92	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	ZNF2	NM_001017396.1,NM_021088.2	43,43	0,1,6483	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	233/385,275/427	95847397	1,12967	2189	4295	6484	95211124	SO:0001583	missense	7549	exon4			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.824G>A	2.37:g.95847397G>A	ENSP00000345392:p.Arg275Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95211124	NM_001017396	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118521	0.20877	0.0	1.16E-4	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.16	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000695	T	0.30448	0.0765	L	0.39085	1.19	0.09310	N	1	D;D;D	0.76494	0.98;0.999;0.998	B;D;P	0.67103	0.397;0.949;0.847	T	0.16394	-1.0404	10	0.12766	T	0.61	-14.4706	6.7576	0.23523	0.0901:0.0:0.7347:0.1752	.	237;233;274	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Q	233;275;195;237;288	ENSP00000381178:R233Q;ENSP00000345392:R275Q;ENSP00000406017:R195Q;ENSP00000295210:R237Q;ENSP00000411051:R288Q	ENSP00000295210:R237Q	R	+	2	0	ZNF2	95211124	0.000000	0.05858	0.642000	0.29436	0.984000	0.73092	-0.249000	0.08842	2.696000	0.92011	0.655000	0.94253	CGA		0.458	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088	
KCNIP3	30818	broad.mit.edu	37	2	96047411	96047411	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:96047411A>C	ENST00000295225.5	+	6	650	c.515A>C	c.(514-516)aAt>aCt	p.N172T	KCNIP3_ENST00000360990.3_Missense_Mutation_p.N150T|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.N146T	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	172	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.N172T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGGCCTTTAATCTCTACGAC	0.582																																					p.N146T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A437C	2						.						137.0	125.0	129.0					2																	96047411		2203	4300	6503	95411138	SO:0001583	missense	30818	exon5			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.515A>C	2.37:g.96047411A>C	ENSP00000295225:p.Asn172Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95411138	NM_001034914	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588849	0.86851	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.67865	-0.29;1.0;-0.29	5.39	5.39	0.77823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	N	0.25426	0.745	0.80722	D	1	D;D	0.58620	0.959;0.983	P;D	0.66084	0.833;0.941	T	0.74572	-0.3621	10	0.87932	D	0	.	13.3585	0.60642	1.0:0.0:0.0:0.0	.	146;172	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	T	172;150;146	ENSP00000295225:N172T;ENSP00000354261:N150T;ENSP00000417499:N146T	ENSP00000295225:N172T	N	+	2	0	KCNIP3	95411138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.051000	0.60960	0.379000	0.24179	AAT		0.582	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434	
TRIM43	129868	broad.mit.edu	37	2	96260080	96260080	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:96260080C>A	ENST00000272395.2	+	2	445	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	103						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F103L(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGAAGATGTTCTGTGACATGG	0.493																																					p.F103L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C309A	2						.						8.0	9.0	9.0					2																	96260080		2075	4096	6171	95623807	SO:0001583	missense	129868	exon2			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.309C>A	2.37:g.96260080C>A	ENSP00000272395:p.Phe103Leu	Somatic		Capture	Illumina HiSeq	Phase_I	95623807	NM_138800	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678624	0.47886	.	.	ENSG00000144015	ENST00000272395	T	0.62105	0.05	1.4	1.4	0.22301	Zinc finger, B-box (2);	.	.	.	.	T	0.68988	0.3061	M	0.83223	2.63	0.27524	N	0.951296	D	0.59357	0.985	P	0.53518	0.728	T	0.60772	-0.7197	9	0.59425	D	0.04	-20.3365	3.8594	0.08990	0.0:0.7636:0.0:0.2364	.	103	Q96BQ3	TRI43_HUMAN	L	103	ENSP00000272395:F103L	ENSP00000272395:F103L	F	+	3	2	TRIM43	95623807	1.000000	0.71417	0.435000	0.26784	0.168000	0.22595	0.237000	0.17985	1.114000	0.41781	0.375000	0.23000	TTC		0.493	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800	
ASTL	431705	broad.mit.edu	37	2	96801137	96801137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:96801137C>A	ENST00000342380.2	-	3	195	c.196G>T	c.(196-198)Gaa>Taa	p.E66*		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.E66*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCTGGGGTTTCTTCCAGGATG	0.572																																					p.E66X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G196T	2						.						93.0	79.0	84.0					2																	96801137		2203	4300	6503	96164864	SO:0001587	stop_gained	431705	exon3			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.196G>T	2.37:g.96801137C>A	ENSP00000343674:p.Glu66*	Somatic		Capture	Illumina HiSeq	Phase_I	96164864	NM_001002036		Nonsense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739292	0.30774	.	.	ENSG00000188886	ENST00000342380	.	.	.	4.42	4.42	0.53409	.	0.000000	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.7304	12.9725	0.58520	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000343674:E66X	E	-	1	0	ASTL	96164864	0.985000	0.35326	0.989000	0.46669	0.060000	0.15804	3.587000	0.53957	2.220000	0.72140	0.650000	0.86243	GAA		0.572	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
STARD7	56910	broad.mit.edu	37	2	96858167	96858167	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:96858167G>A	ENST00000337288.5	-	6	1166	c.783C>T	c.(781-783)ttC>ttT	p.F261F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	261	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.F186F(1)|p.F261F(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TGACCCTGACGAATTCTGGAG	0.438																																					p.F261F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C783T	2						.						188.0	182.0	184.0					2																	96858167		2203	4300	6503	96221894	SO:0001819	synonymous_variant	56910	exon6			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.783C>T	2.37:g.96858167G>A		Somatic		Capture	Illumina HiSeq	Phase_I	96221894	NM_020151	D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	CCDS2017.2																																																																																				0.438	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2		
SNRNP200	23020	broad.mit.edu	37	2	96953612	96953612	+	Silent	SNP	G	G	A	rs376352502		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:96953612G>A	ENST00000323853.5	-	25	3431	c.3354C>T	c.(3352-3354)atC>atT	p.I1118I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1118	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I1118I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGCGTTTGTCGATCATCTTGC	0.542																																					p.I1118I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3354T	2						.	G		0,4406		0,0,2203	176.0	152.0	160.0		3354	-4.3	1.0	2		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1118/2137	96953612	1,13005	2203	4300	6503	96317339	SO:0001819	synonymous_variant	23020	exon25			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3354C>T	2.37:g.96953612G>A		Somatic		Capture	Illumina HiSeq	Phase_I	96317339	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.542	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
NCAPH	23397	broad.mit.edu	37	2	97033011	97033011	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:97033011T>C	ENST00000240423.4	+	15	1941	c.1898T>C	c.(1897-1899)aTt>aCt	p.I633T	NCAPH_ENST00000455200.1_Missense_Mutation_p.I622T|NCAPH_ENST00000427946.1_Missense_Mutation_p.I497T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	633					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.I633T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAAATTGAAATTCACTATGCC	0.388																																					p.I633T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1898C	2						.						75.0	82.0	80.0					2																	97033011		2203	4300	6503	96396738	SO:0001583	missense	23397	exon15			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1898T>C	2.37:g.97033011T>C	ENSP00000240423:p.Ile633Thr	Somatic		Capture	Illumina HiSeq	Phase_I	96396738	NM_015341	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277149	0.80580	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200	T;T;T	0.54866	0.55;0.55;0.55	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.78635	-0.2127	10	0.87932	D	0	-24.1086	14.2183	0.65807	0.0:0.0:0.0:1.0	.	609;633	B4DRG7;Q15003	.;CND2_HUMAN	T	633;497;622	ENSP00000240423:I633T;ENSP00000400774:I497T;ENSP00000407308:I622T	ENSP00000240423:I633T	I	+	2	0	NCAPH	96396738	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.358000	0.79466	2.247000	0.74100	0.528000	0.53228	ATT		0.388	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
FER1L5	90342	broad.mit.edu	37	2	97365350	97365351	+	RNA	DNP	CG	CG	TA	rs370695880		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:97365350_97365351CG>TA	ENST00000457909.1	+	0	4177_4178							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1585L(1)|p.F1585>?(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTATGACTTCGACCTATTTTC	0.49																																					.												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|lung(1)	c.4755_4756TA	2						NA																																			96729078			90342	exon42			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929	Exception_encountered	2.37:g.97365350_97365351delinsTA		Somatic		Capture	Illumina HiSeq	Phase_I	96729077	NM_001113382	Q17RH2|Q6ZU24	Missense_Mutation	DNP	ENST00000457909.1	37																																																																																					0.490	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400	
FER1L5	90342	broad.mit.edu	37	2	97366084	97366084	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:97366084C>A	ENST00000457909.1	+	0	4449							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1676N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AAAACCCCTACTGTTCATGGT	0.582																																					p.T1676N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5027A	2						.						96.0	106.0	103.0					2																	97366084		2044	4167	6211	96729811			90342	exon44			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97366084C>A		Somatic		Capture	Illumina HiSeq	Phase_I	96729811	NM_001113382	Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	C	13.70	2.316791	0.40996	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.05	-2.33	0.06724	.	1.369470	0.05534	U	0.564403	T	0.16769	0.0403	L	0.27053	0.805	.	.	.	B;P;B	0.35656	0.309;0.514;0.435	B;B;B	0.33521	0.08;0.075;0.165	T	0.17837	-1.0356	8	0.26408	T	0.33	-0.4976	2.2629	0.04071	0.2894:0.2072:0.3792:0.1243	.	393;1676;394	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	N	1676;1689;394	.	ENSP00000442027:T394N	T	+	2	0	FER1L5	96729811	0.000000	0.05858	0.004000	0.12327	0.870000	0.49936	-0.315000	0.08081	-0.154000	0.11118	0.561000	0.74099	ACT		0.582	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400	
LMAN2L	81562	broad.mit.edu	37	2	97370066	97370066	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:97370066A>G	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.A2008A(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CGATTATAGCACTTATGCTGT	0.478																																					p.A2008A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6024G	2						.						145.0	148.0	147.0					2																	97370066		1974	4164	6138	96733793	SO:0001628	intergenic_variant	90342	exon51			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370066A>G		Somatic		Capture	Illumina HiSeq	Phase_I	96733793	NM_001113382	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	CCDS2023.1																																																																																				0.478	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805	
Unknown	0	broad.mit.edu	37	2	98132211	98132211	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:98132211C>A								AC159540.1 (41162 upstream) : ANKRD36B (31816 downstream)																							CTACAGAGTTCTTTTTCCAAT	0.284																																					p.E869X												.	.	0			c.G2605T	2						.						1.0	0.0	1.0					2																	98132211		1	0	1	97498643	SO:0001628	intergenic_variant	57730	exon37																															2.37:g.98132211C>A		Somatic		Capture	Illumina HiSeq	Phase_I	97498643	NM_025190		Nonsense_Mutation	SNP		37																																																																																				0	0.284								
TMEM131	23505	broad.mit.edu	37	2	98378669	98378669	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:98378669A>C	ENST00000186436.5	-	36	4952					NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral component of membrane (GO:0016021)		p.?(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGTAGCTGGAAATTAAAAACA	0.423																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						79.0	86.0	84.0					2																	98378669		1887	4121	6008	97745101	SO:0001627	intron_variant	23505	.			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4724-6T>G	2.37:g.98378669A>C		Somatic		Capture	Illumina HiSeq	Phase_I	97745101	.		Intron	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																				0.423	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
TMEM131	23505	broad.mit.edu	37	2	98504541	98504541	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:98504541C>T	ENST00000186436.5	-	4	561	c.333G>A	c.(331-333)gaG>gaA	p.E111E	TMEM131_ENST00000425805.2_Silent_p.E62E	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	111						integral component of membrane (GO:0016021)		p.E111E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCATTGGTGGCTCAAATCGTA	0.333																																					p.E111E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	2						.						86.0	81.0	82.0					2																	98504541		1816	4077	5893	97870973	SO:0001819	synonymous_variant	23505	exon4			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.333G>A	2.37:g.98504541C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97870973	NM_015348		Silent	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																				0.333	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
CNGA3	1261	broad.mit.edu	37	2	99012328	99012328	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99012328T>C	ENST00000272602.2	+	7	734	c.695T>C	c.(694-696)aTg>aCg	p.M232T	CNGA3_ENST00000409937.1_Missense_Mutation_p.M236T|CNGA3_ENST00000393504.1_Missense_Mutation_p.M232T|CNGA3_ENST00000436404.2_Missense_Mutation_p.M214T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	232					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.M232T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAAGGCTTAATGGTCAGTGAT	0.463																																					p.M232T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T695C	2						.						98.0	99.0	98.0					2																	99012328		2203	4300	6503	98378760	SO:0001583	missense	1261	exon8			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.695T>C	2.37:g.99012328T>C	ENSP00000272602:p.Met232Thr	Somatic		Capture	Illumina HiSeq	Phase_I	98378760	NM_001298	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971416	0.34754	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.28	5.28	0.74379	Ion transport (1);	0.149707	0.64402	D	0.000009	D	0.96639	0.8903	L	0.35487	1.065	0.45883	D	0.998738	B;B;B	0.33212	0.402;0.402;0.151	B;B;B	0.41135	0.348;0.348;0.118	D	0.96785	0.9578	10	0.87932	D	0	.	14.3189	0.66470	0.0:0.0:0.0:1.0	.	236;214;232	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	T	232;214;232;236	ENSP00000377140:M232T;ENSP00000410070:M214T;ENSP00000272602:M232T;ENSP00000386761:M236T	ENSP00000272602:M232T	M	+	2	0	CNGA3	98378760	1.000000	0.71417	0.996000	0.52242	0.502000	0.33828	7.525000	0.81892	2.222000	0.72286	0.374000	0.22700	ATG		0.463	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
MGAT4A	11320	broad.mit.edu	37	2	99261958	99261958	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99261958T>G	ENST00000264968.3	-	8	1185	c.822A>C	c.(820-822)aaA>aaC	p.K274N	MGAT4A_ENST00000409391.1_Missense_Mutation_p.K274N|MGAT4A_ENST00000414521.2_Missense_Mutation_p.K146N|MGAT4A_ENST00000393487.1_Missense_Mutation_p.K274N			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	274					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.K274N(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GTGCAAAATTTTTTATGGTAT	0.299																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A438C	2						.						45.0	50.0	48.0					2																	99261958		2202	4297	6499	98628390	SO:0001583	missense	11320	exon6			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.822A>C	2.37:g.99261958T>G	ENSP00000264968:p.Lys274Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98628390	NM_001160154	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170915	0.78452	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.78	-1.04	0.10068	.	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	M	0.82433	2.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65923	-0.6050	10	0.51188	T	0.08	.	11.0187	0.47705	0.0:0.4984:0.0:0.5016	.	146;274	E9PEN2;Q9UM21	.;MGT4A_HUMAN	N	274;146;274;274	ENSP00000377127:K274N;ENSP00000404889:K146N;ENSP00000264968:K274N;ENSP00000386841:K274N	ENSP00000264968:K274N	K	-	3	2	MGAT4A	98628390	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	0.359000	0.20233	-0.110000	0.12022	0.533000	0.62120	AAA		0.299	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214	
KIAA1211L	343990	broad.mit.edu	37	2	99412603	99412603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99412603G>T	ENST00000397899.2	-	9	3060	c.2729C>A	c.(2728-2730)tCa>tAa	p.S910*		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	910								p.S910*(1)									ATGGGACAATGAGATTCCTCT	0.478																																					p.S910X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2729A	2						.						189.0	183.0	185.0					2																	99412603		1885	4116	6001	98779035	SO:0001587	stop_gained	343990	exon9			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2729C>A	2.37:g.99412603G>T	ENSP00000380996:p.Ser910*	Somatic		Capture	Illumina HiSeq	Phase_I	98779035	NM_207362		Nonsense_Mutation	SNP	ENST00000397899.2	37	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	38	6.668054	0.97747	.	.	ENSG00000196872	ENST00000397899	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3379	14.0344	0.64636	0.0:0.0:1.0:0.0	.	.	.	.	X	910	.	ENSP00000380996:S910X	S	-	2	0	C2orf55	98779035	0.995000	0.38212	0.960000	0.40013	0.026000	0.11368	2.689000	0.46993	2.688000	0.91661	0.563000	0.77884	TCA		0.478	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	
TSGA10	80705	broad.mit.edu	37	2	99695134	99695134	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99695134A>C	ENST00000393483.3	-	12	1714	c.870T>G	c.(868-870)agT>agG	p.S290R	TSGA10_ENST00000410001.1_Missense_Mutation_p.S290R|TSGA10_ENST00000355053.4_Missense_Mutation_p.S290R|TSGA10_ENST00000539964.1_Missense_Mutation_p.S290R|TSGA10_ENST00000542655.1_Missense_Mutation_p.S290R|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	290					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.S290R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCATTGCCAAACTCTCTCCAA	0.343																																					p.S290R												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T870G	2						.						101.0	96.0	98.0					2																	99695134		2202	4300	6502	99061566	SO:0001583	missense	80705	exon11			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.870T>G	2.37:g.99695134A>C	ENSP00000377123:p.Ser290Arg	Somatic		Capture	Illumina HiSeq	Phase_I	99061566	NM_182911	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468482	0.63625	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.15	2.68	0.31781	.	0.077645	0.56097	D	0.000036	T	0.36552	0.0971	L	0.38175	1.15	0.31644	N	0.647619	P;P	0.50819	0.939;0.939	P;P	0.50314	0.562;0.637	T	0.38802	-0.9644	10	0.38643	T	0.18	-17.8286	5.8688	0.18793	0.7825:0.0:0.2175:0.0	.	290;290	B7Z925;Q9BZW7	.;TSG10_HUMAN	R	290	ENSP00000377123:S290R;ENSP00000386956:S290R;ENSP00000347161:S290R;ENSP00000444419:S290R;ENSP00000386508:S290R;ENSP00000377122:S290R;ENSP00000445623:S290R	ENSP00000347161:S290R	S	-	3	2	TSGA10	99061566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.184000	0.42575	0.932000	0.37266	0.383000	0.25322	AGT		0.343	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	
TSGA10	80705	broad.mit.edu	37	2	99725403	99725403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99725403C>A	ENST00000393483.3	-	7	947	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	TSGA10_ENST00000410001.1_Nonsense_Mutation_p.E35*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.E35*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.E35*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.E35*|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	35					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.E35*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CATTTAAGTTCTTCACGATCT	0.338																																					p.E35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G103T	2						.						88.0	89.0	88.0					2																	99725403		2201	4300	6501	99091835	SO:0001587	stop_gained	80705	exon6			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.103G>T	2.37:g.99725403C>A	ENSP00000377123:p.Glu35*	Somatic		Capture	Illumina HiSeq	Phase_I	99091835	NM_182911	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381798	0.98786	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	4.61	4.61	0.57282	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.3848	16.1692	0.81790	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000347161:E35X	E	-	1	0	TSGA10	99091835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.311000	0.72835	2.392000	0.81423	0.484000	0.47621	GAA		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	
LIPT1	51601	broad.mit.edu	37	2	99778691	99778691	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99778691G>A	ENST00000393473.2	+	3	495	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	LIPT1_ENST00000393471.2_Missense_Mutation_p.E91K|LIPT1_ENST00000393474.3_Missense_Mutation_p.E91K|LIPT1_ENST00000340066.1_Missense_Mutation_p.E91K|LIPT1_ENST00000393477.3_Missense_Mutation_p.E91K|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	91	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)	p.E91K(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TCTAATGAGAGAAGAAGGTAT	0.378																																					p.E91K	GBM(84;665 1268 21657 25485 30647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	2						.						76.0	72.0	73.0					2																	99778691		2203	4300	6503	99145123	SO:0001583	missense	51601	exon4			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.271G>A	2.37:g.99778691G>A	ENSP00000377115:p.Glu91Lys	Somatic		Capture	Illumina HiSeq	Phase_I	99145123	NM_145197	Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141891	0.21205	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142	D;D;D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	4.91	3.05	0.35203	Biotin/lipoate A/B protein ligase (1);	0.491680	0.23863	N	0.043838	D	0.89234	0.6657	L	0.33293	1	0.58432	D	0.999999	B	0.13145	0.007	B	0.19391	0.025	D	0.83831	0.0252	10	0.48119	T	0.1	-12.1781	14.6819	0.69023	0.0:0.459:0.541:0.0	.	91	Q9Y234	LIPT_HUMAN	K	91	ENSP00000377115:E91K;ENSP00000377118:E91K;ENSP00000377116:E91K;ENSP00000342071:E91K;ENSP00000377114:E91K;ENSP00000387387:E91K;ENSP00000393591:E91K;ENSP00000398168:E91K	ENSP00000342071:E91K	E	+	1	0	LIPT1	99145123	0.983000	0.35010	1.000000	0.80357	0.935000	0.57460	0.464000	0.21988	0.626000	0.30322	-0.175000	0.13238	GAA		0.378	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929	
LYG2	254773	broad.mit.edu	37	2	99861830	99861830	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:99861830G>A	ENST00000409238.1	-	3	296	c.276C>T	c.(274-276)tgC>tgT	p.C92C	LYG2_ENST00000333017.2_Silent_p.C92C|LYG2_ENST00000409679.1_Silent_p.C92C|LYG2_ENST00000423800.1_Silent_p.C92C			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	92					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.C92C(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CAGGGTCCACGCAATGTCTCT	0.517																																					p.C92C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276T	2						.						113.0	101.0	105.0					2																	99861830		2203	4300	6503	99228262	SO:0001819	synonymous_variant	254773	exon4			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.276C>T	2.37:g.99861830G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99228262	NM_175735	Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	CCDS2042.1																																																																																				0.517	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735	
REV1	51455	broad.mit.edu	37	2	100017814	100017814	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:100017814G>A	ENST00000258428.3	-	23	3874	c.3646C>T	c.(3646-3648)Ctg>Ttg	p.L1216L	REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Splice_Site_p.L1215L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1216	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.L1216L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCTGCATCAGCCTAAAGGTG	0.343								Direct reversal of damage																													p.L1216L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3646T	2						.						75.0	75.0	75.0					2																	100017814		2203	4300	6503	99384246	SO:0001630	splice_region_variant	51455	exon23			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3645-1C>T	2.37:g.100017814G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99384246	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.343	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	Silent
AFF3	3899	broad.mit.edu	37	2	100210108	100210108	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:100210108G>A	ENST00000409236.2	-	13	2127	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	AFF3_ENST00000409579.1_Missense_Mutation_p.S697F|AFF3_ENST00000317233.4_Missense_Mutation_p.S672F|AFF3_ENST00000356421.2_Missense_Mutation_p.S697F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	672	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S697F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGATGAAGATGACGACTC	0.607																																					p.S697F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2090T	2						.						72.0	78.0	76.0					2																	100210108		2203	4299	6502	99576540	SO:0001583	missense	3899	exon14			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2015C>T	2.37:g.100210108G>A	ENSP00000387207:p.Ser672Phe	Somatic		Capture	Illumina HiSeq	Phase_I	99576540	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561667	0.45590	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000047	T	0.80171	0.4574	M	0.76574	2.34	0.52099	D	0.999944	D;D;P	0.89917	0.981;1.0;0.834	P;D;B	0.91635	0.813;0.999;0.363	T	0.82037	-0.0656	10	0.72032	D	0.01	.	12.0705	0.53613	0.0791:0.0:0.9209:0.0	.	825;672;697	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	F	672;697;697;672;672;825;697	ENSP00000317421:S672F;ENSP00000348793:S697F;ENSP00000386834:S697F;ENSP00000387207:S672F	ENSP00000317421:S672F	S	-	2	0	AFF3	99576540	1.000000	0.71417	0.073000	0.20177	0.154000	0.21943	6.479000	0.73600	2.426000	0.82243	0.561000	0.74099	TCT		0.607	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AFF3	3899	broad.mit.edu	37	2	100360609	100360609	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:100360609G>T	ENST00000409236.2	-	8	1115				AFF3_ENST00000409579.1_Intron|AFF3_ENST00000317233.4_Intron|AFF3_ENST00000356421.2_Intron			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGTCCTGAAAGAACAAGAAAT	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						59.0	58.0	58.0					2																	100360609		2203	4300	6503	99727041	SO:0001627	intron_variant	3899	.			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1003-7C>A	2.37:g.100360609G>T		Somatic		Capture	Illumina HiSeq	Phase_I	99727041	.	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Intron	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.403	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AFF3	3899	broad.mit.edu	37	2	100623902	100623902	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:100623902G>T	ENST00000409236.2	-	4	307	c.195C>A	c.(193-195)ctC>ctA	p.L65L	AFF3_ENST00000409579.1_Silent_p.L90L|AFF3_ENST00000317233.4_Silent_p.L65L|AFF3_ENST00000356421.2_Silent_p.L90L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	65					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.L90L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGGTTGGAGAGTTCATCCC	0.413																																					p.L90L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270A	2						.						90.0	93.0	92.0					2																	100623902		2203	4300	6503	99990334	SO:0001819	synonymous_variant	3899	exon5			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.195C>A	2.37:g.100623902G>T		Somatic		Capture	Illumina HiSeq	Phase_I	99990334	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.413	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
ANAPC1	64682	broad.mit.edu	37	2	112540091	112540091	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:112540091G>T	ENST00000341068.3	-	43	5836					NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGACCTGAAAGAAAAGGAATG	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						40.0	37.0	38.0					2																	112540091		2202	4300	6502	112256562	SO:0001627	intron_variant	64682	.			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5064-7C>A	2.37:g.112540091G>T		Somatic		Capture	Illumina HiSeq	Phase_I	112256562	.	Q2M3H8|Q9BSE6|Q9H8D0	Intron	SNP	ENST00000341068.3	37	CCDS2093.1																																																																																				0.403	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
EPB41L5	57669	broad.mit.edu	37	2	120925030	120925030	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:120925030A>C	ENST00000263713.5	+	23	2176				EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000488691.1_Intron|EPB41L5_ENST00000452780.1_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5						actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CATACATATAAAATTATTTCA	0.343																																					.												.	.	0			.	2						.						105.0	103.0	104.0					2																	120925030		2203	4300	6503	120641500	SO:0001627	intron_variant	57669	.			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1963-12A>C	2.37:g.120925030A>C		Somatic		Capture	Illumina HiSeq	Phase_I	120641500	.	Q7Z5S1|Q8IZ12|Q9H975	Intron	SNP	ENST00000263713.5	37	CCDS2130.1																																																																																				0.343	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909	
NIFK	84365	broad.mit.edu	37	2	122485938	122485938	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:122485938A>C	ENST00000285814.4	-	6	697				AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN							negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AAAACCTTAAAATAAATTTTA	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						49.0	50.0	49.0					2																	122485938		2202	4298	6500	122202408	SO:0001627	intron_variant	84365	.																														ENST00000285814.4:c.625-6T>G	2.37:g.122485938A>C		Somatic		Capture	Illumina HiSeq	Phase_I	122202408	.	A8K788|Q8TB66|Q96ED4	Intron	SNP	ENST00000285814.4	37	CCDS2135.1																																																																																				0.318	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2		
CNTNAP5	129684	broad.mit.edu	37	2	125192060	125192060	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:125192060G>T	ENST00000431078.1	+	5	893		c.e5-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTGTTCCCAGAATCAGATGT	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						113.0	100.0	104.0					2																	125192060		1885	4111	5996	124908530	SO:0001630	splice_region_variant	129684	.			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.530-1G>T	2.37:g.125192060G>T		Somatic		Capture	Illumina HiSeq	Phase_I	124908530	.	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870777	0.33069	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3294	0.60477	0.0753:0.0:0.9247:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	124908530	1.000000	0.71417	0.984000	0.44739	0.110000	0.19582	9.687000	0.98667	1.325000	0.45301	-0.136000	0.14681	.		0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron
CNTNAP5	129684	broad.mit.edu	37	2	125281871	125281871	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:125281871C>A	ENST00000431078.1	+	9	1688					NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGTTTCTCTTGCAGGC	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						67.0	70.0	69.0					2																	125281871		2064	4217	6281	124998341	SO:0001627	intron_variant	129684	.			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1325-9C>A	2.37:g.125281871C>A		Somatic		Capture	Illumina HiSeq	Phase_I	124998341	.	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Intron	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
LRP1B	53353	broad.mit.edu	37	2	141243105	141243105	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141243105G>T	ENST00000389484.3	-	59	10215					NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAAAACAAGAATTTAAAAG	0.343										TSP Lung(27;0.18)																											.	Colon(99;50 2074 2507 20106)											.	.	0			.	2						.						65.0	61.0	62.0					2																	141243105		2203	4300	6503	140959575	SO:0001627	intron_variant	53353	.			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9244-12C>A	2.37:g.141243105G>T		Somatic		Capture	Illumina HiSeq	Phase_I	140959575	.	Q8WY29|Q8WY30|Q8WY31	Intron	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141245314	141245314	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:141245314A>G	ENST00000389484.3	-	58	10092					NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.?(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCCTGAAAATAAAAAAGA	0.313										TSP Lung(27;0.18)																											.	Colon(99;50 2074 2507 20106)											.	.	1	Unknown(1)	large_intestine(1)	.	2						.						41.0	43.0	43.0					2																	141245314		2201	4292	6493	140961784	SO:0001627	intron_variant	53353	.			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9121-6T>C	2.37:g.141245314A>G		Somatic		Capture	Illumina HiSeq	Phase_I	140961784	.	Q8WY29|Q8WY30|Q8WY31	Intron	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KYNU	8942	broad.mit.edu	37	2	143743513	143743513	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143743513C>A	ENST00000264170.4	+	10	1086				KYNU_ENST00000375773.2_Intron|KYNU_ENST00000409512.1_Intron	NM_003937.2	NP_003928.1			kynureninase									p.?(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TATTTTCAATCTAGTATTTAA	0.318																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						44.0	46.0	45.0					2																	143743513		2203	4299	6502	143459983	SO:0001627	intron_variant	8942	.			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.829-4C>A	2.37:g.143743513C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143459983	.		Intron	SNP	ENST00000264170.4	37	CCDS2183.1																																																																																				0.318	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
ARHGAP15	55843	broad.mit.edu	37	2	143974026	143974026	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:143974026C>A	ENST00000295095.6	+	4	463				ARHGAP15_ENST00000409869.1_Intron	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						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)		TAATAAAATTCTTTAATTCAC	0.338																																					.												.	.	0			.	2						.						56.0	62.0	60.0					2																	143974026		2203	4299	6502	143690496	SO:0001627	intron_variant	55843	.			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.296+12C>A	2.37:g.143974026C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143690496	.	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Intron	SNP	ENST00000295095.6	37	CCDS2184.1																																																																																				0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
NMI	9111	broad.mit.edu	37	2	152128129	152128129	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152128129G>A	ENST00000243346.5	-	7	1212					NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor						inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAACAGAGATGACTTTAC	0.358																																					.												.	.	0			.	2						.						162.0	172.0	169.0					2																	152128129		2203	4299	6502	151836375	SO:0001627	intron_variant	9111	.			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.741+10C>T	2.37:g.152128129G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151836375	.	B5BU69|Q53TI8|Q9BVE5	Intron	SNP	ENST00000243346.5	37	CCDS2192.1																																																																																				0.358	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688	
NEB	4703	broad.mit.edu	37	2	152432323	152432323	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:152432323G>T	ENST00000172853.10	-	79	11953				NEB_ENST00000604864.1_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Intron|NEB_ENST00000397345.3_Intron|NEB_ENST00000603639.1_Intron			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGTGGAAAGAAACAAAAAT	0.338																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						201.0	195.0	197.0					2																	152432323		1806	4073	5879	152140569	SO:0001627	intron_variant	4703	.			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11806-10C>A	2.37:g.152432323G>T		Somatic		Capture	Illumina HiSeq	Phase_I	152140569	.	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Intron	SNP	ENST00000172853.10	37																																																																																					0.338	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
SLC4A10	57282	broad.mit.edu	37	2	162719576	162719576	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:162719576A>C	ENST00000446997.1	+	6	859				SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000493021.1_Intron|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000535165.1_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AAAAATGGTAAATGTTTATTT	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						67.0	72.0	71.0					2																	162719576		1836	4111	5947	162427822	SO:0001627	intron_variant	57282	.				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.766+4A>C	2.37:g.162719576A>C		Somatic		Capture	Illumina HiSeq	Phase_I	162427822	.	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Intron	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
DPP4	1803	broad.mit.edu	37	2	162903908	162903908	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:162903908C>A	ENST00000360534.3	-	3	754					NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CCAAAAAATTCTTACCTGAAA	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						70.0	73.0	72.0					2																	162903908		2201	4297	6498	162612154	SO:0001627	intron_variant	1803	.			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.193+4G>T	2.37:g.162903908C>A		Somatic		Capture	Illumina HiSeq	Phase_I	162612154	.	Q53TN1	Intron	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.348	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
GCG	2641	broad.mit.edu	37	2	163000415	163000415	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:163000415T>G	ENST00000375497.3	-	6	798	c.543A>C	c.(541-543)taA>taC	p.*181Y	GCG_ENST00000418842.2_Intron			P01275	GLUC_HUMAN	glucagon	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.*181Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						ACATGCATAATTATTTCCTAT	0.303																																					.												.	.	1	Nonstop extension(1)	large_intestine(1)	.	2						.						6.0	6.0	6.0					2																	163000415		859	1966	2825	162708661	SO:0001578	stop_lost	2641	.				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000375497.3:c.543A>C	2.37:g.163000415T>G		Somatic		Capture	Illumina HiSeq	Phase_I	162708661	.	A6NN65|Q53TP6	Intron	SNP	ENST00000375497.3	37		.	.	.	.	.	.	.	.	.	.	T	12.34	1.908480	0.33721	.	.	ENSG00000115263	ENST00000375497	.	.	.	4.12	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2479	0.31700	0.0:0.0:0.2023:0.7977	.	.	.	.	Y	181	.	.	X	-	3	2	GCG	162708661	0.002000	0.14202	0.009000	0.14445	0.101000	0.19017	1.261000	0.32980	0.602000	0.29896	0.528000	0.53228	TAA		0.303	GCG-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002054	
GCA	25801	broad.mit.edu	37	2	163216716	163216716	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:163216716T>G	ENST00000437150.2	+	8	788				GCA_ENST00000233612.4_Intron|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein						membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAATTTCACTTATGTATTAG	0.279																																					.												.	.	0			.	2						.						41.0	44.0	43.0					2																	163216716		2198	4288	6486	162924962	SO:0001627	intron_variant	25801	.			M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.628-11T>G	2.37:g.163216716T>G		Somatic		Capture	Illumina HiSeq	Phase_I	162924962	.	B2R5X3|Q53TB5|Q59EP3	Intron	SNP	ENST00000437150.2	37	CCDS2218.1																																																																																				0.279	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198	
KCNH7	90134	broad.mit.edu	37	2	163694945	163694945	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:163694945G>A	ENST00000332142.5	-	1	176				KCNH7_ENST00000328032.4_Intron	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAGAACAAACGAACTTACTTT	0.547																																					.	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Unknown(1)	large_intestine(1)	.	2						.						154.0	129.0	138.0					2																	163694945		2203	4300	6503	163403191	SO:0001627	intron_variant	90134	.			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.76+7C>T	2.37:g.163694945G>A		Somatic		Capture	Illumina HiSeq	Phase_I	163403191	.	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Intron	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				0.547	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
SCN3A	6328	broad.mit.edu	37	2	166019350	166019350	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166019350G>T	ENST00000360093.3	-	8	1186				SCN3A_ENST00000283254.7_Intron|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCAGAGAGAGAACTATAGGT	0.428																																					.												.	.	0			.	2						.						85.0	88.0	87.0					2																	166019350		2203	4299	6502	165727596	SO:0001627	intron_variant	6328	.			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.695-12C>A	2.37:g.166019350G>T		Somatic		Capture	Illumina HiSeq	Phase_I	165727596	.	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Intron	SNP	ENST00000360093.3	37																																																																																					0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN2A	6326	broad.mit.edu	37	2	166246346	166246346	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166246346G>T	ENST00000375437.2	+	0	6320				SCN2A_ENST00000375427.2_3'UTR|SCN2A_ENST00000283256.6_3'UTR|SCN2A_ENST00000357398.3_3'UTR	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAAACCAAGAATTTTCCAT	0.363																																					.												.	.	0			.	2						.						10.0	11.0	10.0					2																	166246346		2071	4218	6289	165954592	SO:0001624	3_prime_UTR_variant	6326	.			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.*12G>T	2.37:g.166246346G>T		Somatic		Capture	Illumina HiSeq	Phase_I	165954592	.	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	3'UTR	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
TTC21B	79809	broad.mit.edu	37	2	166775955	166775955	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:166775955A>C	ENST00000243344.7	-	13	1654					NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B						forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAATAAGAAAAACAATGCATT	0.378																																					.												.	.	0			.	2						.						63.0	62.0	62.0					2																	166775955		2203	4300	6503	166484201	SO:0001627	intron_variant	79809	.			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1517-12T>G	2.37:g.166775955A>C		Somatic		Capture	Illumina HiSeq	Phase_I	166484201	.	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Intron	SNP	ENST00000243344.7	37	CCDS33315.1																																																																																				0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
XIRP2	129446	broad.mit.edu	37	2	168110536	168110536	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:168110536T>A	ENST00000409728.1	+	10	1364				XIRP2_ENST00000409273.1_Intron|XIRP2_ENST00000409195.1_Intron|XIRP2_ENST00000295237.9_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.?(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATTTTTATTTTTAGAAGCT	0.328																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						58.0	55.0	56.0					2																	168110536		1796	4076	5872	167818782	SO:0001627	intron_variant	129446	.			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1276-6T>A	2.37:g.168110536T>A		Somatic		Capture	Illumina HiSeq	Phase_I	167818782	.	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Intron	SNP	ENST00000409728.1	37	CCDS56143.1																																																																																				0.328	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
CCDC173	129881	broad.mit.edu	37	2	170537750	170537750	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:170537750A>T	ENST00000447353.1	-	2	173					NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173									p.?(1)									ATTTCTAATAAATTGTAAAAA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						37.0	33.0	34.0					2																	170537750		1789	4062	5851	170245996	SO:0001627	intron_variant	129881	.			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.68-7T>A	2.37:g.170537750A>T		Somatic		Capture	Illumina HiSeq	Phase_I	170245996	.	Q6PJF6	Intron	SNP	ENST00000447353.1	37	CCDS46445.1																																																																																				0.338	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447	
CHRNA1	1134	broad.mit.edu	37	2	175624204	175624204	+	Intron	SNP	C	C	A	rs201168898	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:175624204C>A	ENST00000261007.5	-	2	256				CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000348749.5_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Intron|CHRNA1_ENST00000409542.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCCCCCAGTGCTCTTGTCTCA	0.582																																					.												.	.	0			.	2						.						118.0	116.0	116.0					2																	175624204		2203	4300	6503	175332450	SO:0001627	intron_variant	1134	.			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.189+11G>T	2.37:g.175624204C>A		Somatic		Capture	Illumina HiSeq	Phase_I	175332450	.	B4DRV6|D3DPE8	Intron	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
AGPS	8540	broad.mit.edu	37	2	178372693	178372693	+	Intron	SNP	A	A	G	rs546560270		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:178372693A>G	ENST00000264167.4	+	16	1691				AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTGTGTCTTAATAGGACTTG	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						169.0	165.0	166.0					2																	178372693		2203	4300	6503	178080939	SO:0001627	intron_variant	8540	.			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1546-5A>G	2.37:g.178372693A>G		Somatic		Capture	Illumina HiSeq	Phase_I	178080939	.	A5D8U9|Q2TU35	Intron	SNP	ENST00000264167.4	37	CCDS2275.1																																																																																				0.323	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
TTN	7273	broad.mit.edu	37	2	179402067	179402067	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179402067A>G	ENST00000591111.1	-	305	95167		c.e305+1		TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(4)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATAAAATACCTTGTATTT	0.328																																					.												.	.	4	Unknown(4)	large_intestine(4)	.	2						.						47.0	39.0	42.0					2																	179402067		1811	4061	5872	179110313	SO:0001630	splice_region_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94942+1T>C	2.37:g.179402067A>G		Somatic		Capture	Illumina HiSeq	Phase_I	179110313	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	15.69	2.908637	0.52439	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6554	0.77129	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179110313	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.339000	0.96797	2.095000	0.63458	0.460000	0.39030	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron
TTN	7273	broad.mit.edu	37	2	179462553	179462553	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179462553G>A	ENST00000591111.1	-	244	52564				TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(4)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACTGGAAGCAATTGAAAA	0.398																																					.												.	.	4	Unknown(4)	large_intestine(4)	.	2						.						91.0	81.0	84.0					2																	179462553		1936	4144	6080	179170798	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52340-7C>T	2.37:g.179462553G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179170798	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179528637	179528637	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179528637G>T	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTGAAAGATATTAGTGA	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						213.0	202.0	205.0					2																	179528637		876	1991	2867	179236882	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5116C>A	2.37:g.179528637G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179236882	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179532456	179532456	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179532456G>T	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACTTTAAAGATATTAGTAT	0.279																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						109.0	119.0	116.0					2																	179532456		876	1988	2864	179240701	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+2488C>A	2.37:g.179532456G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179240701	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.279	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179556834	179556834	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179556834G>T	ENST00000591111.1	-	119	30952				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTTTAAAGATACAATTGT	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						68.0	65.0	66.0					2																	179556834		1824	4094	5918	179265079	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30728-8C>A	2.37:g.179556834G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179265079	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179558745	179558745	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179558745G>T	ENST00000591111.1	-	116	30700				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTAAAGAGAGTATTTCAC	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						84.0	74.0	77.0					2																	179558745		1848	4082	5930	179266990	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30476-10C>A	2.37:g.179558745G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179266990	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179582117	179582117	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179582117G>T	ENST00000591111.1	-	86	24625				TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTGAAAAGAATGAAGACC	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						57.0	56.0	56.0					2																	179582117		1883	4098	5981	179290362	SO:0001627	intron_variant	7273	.			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24401-8C>A	2.37:g.179582117G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179290362	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179702477	179702477	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179702477A>C	ENST00000480419.1	-	2	117				CCDC141_ENST00000420890.2_Intron|CCDC141_ENST00000295723.5_Intron			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141									p.?(2)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCCCCTTGAAAAAAGAAAAG	0.433																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						48.0	53.0	51.0					2																	179702477		2203	4299	6502	179410722	SO:0001627	intron_variant	285025	.			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000480419.1:c.2212-6T>G	2.37:g.179702477A>C		Somatic		Capture	Illumina HiSeq	Phase_I	179410722	.	H7C0P1|J3KNW6|Q8N8H3	Intron	SNP	ENST00000480419.1	37																																																																																					0.433	CCDC141-002	KNOWN	mRNA_start_NF|basic	processed_transcript	protein_coding	OTTHUMT00000335872.2	NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179721134	179721134	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:179721134A>G	ENST00000420890.2	-	18	2842				CCDC141_ENST00000295723.5_Intron	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141									p.?(2)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGTTCAATAAAAAGAA	0.279																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						38.0	40.0	39.0					2																	179721134		2185	4291	6476	179429379	SO:0001627	intron_variant	285025	.			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2725-10T>C	2.37:g.179721134A>G		Somatic		Capture	Illumina HiSeq	Phase_I	179429379	.	H7C0P1|J3KNW6|Q8N8H3	Intron	SNP	ENST00000420890.2	37																																																																																					0.279	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CWC22	57703	broad.mit.edu	37	2	180815662	180815662	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:180815662G>T	ENST00000410053.3	-	18	2117				CWC22_ENST00000295749.6_Intron	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein						mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTAAAAAGGAAAAAAATAA	0.299																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						28.0	27.0	27.0					2																	180815662		1779	4027	5806	180523907	SO:0001627	intron_variant	57703	.				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1818-9C>A	2.37:g.180815662G>T		Somatic		Capture	Illumina HiSeq	Phase_I	180523907	.	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Intron	SNP	ENST00000410053.3	37	CCDS46465.1																																																																																				0.299	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
NCKAP1	10787	broad.mit.edu	37	2	183822177	183822177	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:183822177A>G	ENST00000361354.4	-	19	2394				NCKAP1_ENST00000360982.2_Intron	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.?(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATATAAGTGGATACTTACTTG	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						145.0	147.0	146.0					2																	183822177		2203	4300	6503	183530422	SO:0001627	intron_variant	10787	.			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2021+7T>C	2.37:g.183822177A>G		Somatic		Capture	Illumina HiSeq	Phase_I	183530422	.	O60329|Q53QN5|Q53S94|Q53Y35	Intron	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.343	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
ZNF804A	91752	broad.mit.edu	37	2	185463804	185463804	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:185463804G>A	ENST00000302277.6	+	1	705					NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A								metal ion binding (GO:0046872)	p.?(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTGGTAATCGCTTCTGTTTT	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						56.0	58.0	57.0					2																	185463804		2203	4300	6503	185172049	SO:0001627	intron_variant	91752	.			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.111+7G>A	2.37:g.185463804G>A		Somatic		Capture	Illumina HiSeq	Phase_I	185172049	.	A7E253|Q6ZN26	Intron	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
CALCRL	10203	broad.mit.edu	37	2	188216830	188216830	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:188216830G>T	ENST00000409998.1	-	14	1910				CALCRL_ENST00000392370.3_Intron|CALCRL_ENST00000410068.1_Intron|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCTTATCAAGAATGCCATAC	0.373																																					.												.	.	0			.	2						.						76.0	69.0	72.0					2																	188216830		2203	4299	6502	187925075	SO:0001627	intron_variant	10203	.			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1128+10C>A	2.37:g.188216830G>T		Somatic		Capture	Illumina HiSeq	Phase_I	187925075	.	A8K6G5|A8KAD3|Q53S02|Q53TS5	Intron	SNP	ENST00000409998.1	37	CCDS2293.1																																																																																				0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
COL3A1	1281	broad.mit.edu	37	2	189862984	189862984	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:189862984C>A	ENST00000304636.3	+	28	2093				COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAATATGATTCTTTCTAGGGC	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						62.0	66.0	65.0					2																	189862984		2203	4300	6503	189571229	SO:0001627	intron_variant	1281	.			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1924-8C>A	2.37:g.189862984C>A		Somatic		Capture	Illumina HiSeq	Phase_I	189571229	.	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Intron	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.363	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
DNAH7	56171	broad.mit.edu	37	2	196913017	196913017	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:196913017T>C	ENST00000312428.6	-	4	351				DNAH7_ENST00000410072.1_Intron	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAAGTTCTTACCATGGGAC	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						92.0	86.0	88.0					2																	196913017		1832	4085	5917	196621262	SO:0001627	intron_variant	56171	.			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.250+2A>G	2.37:g.196913017T>C		Somatic		Capture	Illumina HiSeq	Phase_I	196621262	.	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Intron	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
STK17B	9262	broad.mit.edu	37	2	197010624	197010624	+	Intron	SNP	C	C	T	rs373006677		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197010624C>T	ENST00000263955.4	-	4	767				STK17B_ENST00000409228.1_Intron	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTTTAAATCACGTTACGTTAC	0.338																																					.												.	.	0			.	2						.	C		0,4404		0,0,2202	82.0	69.0	73.0			-2.8	0.0	2		73	3,8593	3.0+/-9.4	0,3,4295	no	intron	STK17B	NM_004226.3		0,3,6497	TT,TC,CC		0.0349,0.0,0.0231			197010624	3,12997	2202	4298	6500	196718869	SO:0001627	intron_variant	9262	.			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.480+10G>A	2.37:g.197010624C>T		Somatic		Capture	Illumina HiSeq	Phase_I	196718869	.		Intron	SNP	ENST00000263955.4	37	CCDS2315.1																																																																																				0.338	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2		
HECW2	57520	broad.mit.edu	37	2	197171203	197171203	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:197171203G>A	ENST00000260983.3	-	13	2997				HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTTCAGATTCGCTACTCACAG	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						116.0	105.0	109.0					2																	197171203		2203	4300	6503	196879448	SO:0001627	intron_variant	57520	.			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2814+8C>T	2.37:g.197171203G>A		Somatic		Capture	Illumina HiSeq	Phase_I	196879448	.	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Intron	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.478	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
MOB4	25843	broad.mit.edu	37	2	198388337	198388337	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:198388337T>C	ENST00000323303.4	+	2	315				MOB4_ENST00000409360.1_Intron|HSPE1-MOB4_ENST00000604458.1_Intron|MOB4_ENST00000448447.2_Intron|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_Intron|MOB4_ENST00000233892.4_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein						transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										ACCGTGAATTTATTTTTATAG	0.313																																					.												.	.	0			.	2						.						70.0	79.0	76.0					2																	198388337		2203	4300	6503	198096582	SO:0001627	intron_variant	25843	.			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.61-11T>C	2.37:g.198388337T>C		Somatic		Capture	Illumina HiSeq	Phase_I	198096582	.	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Intron	SNP	ENST00000323303.4	37	CCDS2321.1																																																																																				0.313	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
NOP58	51602	broad.mit.edu	37	2	203157858	203157858	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:203157858T>G	ENST00000264279.5	+	9	1133				SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein						cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCTGAGACACTTGTGGTCCAT	0.358																																					.												.	.	0			.	2						.						68.0	61.0	63.0					2																	203157858		876	1991	2867	202866103	SO:0001627	intron_variant	51602	.				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.907+232T>G	2.37:g.203157858T>G		Somatic		Capture	Illumina HiSeq	Phase_I	202866103	.	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Intron	SNP	ENST00000264279.5	37	CCDS2353.1																																																																																				0.358	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934	
FAM117B	150864	broad.mit.edu	37	2	203620408	203620408	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:203620408A>C	ENST00000392238.2	+	5	1104				FAM117B_ENST00000303116.6_Intron			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B									p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACTTATAGTAAGTGATCTTGT	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						57.0	60.0	59.0					2																	203620408		2203	4300	6503	203328653	SO:0001627	intron_variant	150864	.			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1104+4A>C	2.37:g.203620408A>C		Somatic		Capture	Illumina HiSeq	Phase_I	203328653	.	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Intron	SNP	ENST00000392238.2	37	CCDS33362.2																																																																																				0.353	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511	
ERBB4	2066	broad.mit.edu	37	2	212570126	212570126	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:212570126C>A	ENST00000342788.4	-	10	1435				ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Intron	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCTAGAAAATCAAGAAGAGAT	0.323										TSP Lung(8;0.080)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						96.0	96.0	96.0					2																	212570126		2203	4300	6503	212278371	SO:0001627	intron_variant	2066	.			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1125-10G>T	2.37:g.212570126C>A		Somatic		Capture	Illumina HiSeq	Phase_I	212278371	.	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Intron	SNP	ENST00000342788.4	37	CCDS2394.1																																																																																				0.323	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu	37	2	212589795	212589795	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:212589795A>G	ENST00000342788.4	-	6	1052				ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000484474.1_5'Flank	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAAATCACAGACATACAAAGC	0.443										TSP Lung(8;0.080)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						107.0	97.0	100.0					2																	212589795		2203	4300	6503	212298040	SO:0001627	intron_variant	2066	.			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.741+5T>C	2.37:g.212589795A>G		Somatic		Capture	Illumina HiSeq	Phase_I	212298040	.	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Intron	SNP	ENST00000342788.4	37	CCDS2394.1																																																																																				0.443	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
TRPM8	79054	broad.mit.edu	37	2	234916706	234916706	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:234916706C>A	ENST00000324695.4	+	24	3270				TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8						calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.?(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCATTAACTTCTTTGCAGAAT	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						216.0	208.0	211.0					2																	234916706		2203	4300	6503	234581445	SO:0001627	intron_variant	79054	.			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3231-8C>A	2.37:g.234916706C>A		Somatic		Capture	Illumina HiSeq	Phase_I	234581445	.	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Intron	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.323	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
IQCA1	79781	broad.mit.edu	37	2	237300721	237300721	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:237300721G>T	ENST00000409907.3	-	11	1592				IQCA1_ENST00000431676.2_Intron|IQCA1_ENST00000309507.5_Intron|IQCA1_ENST00000465621.1_5'Flank|AC019068.2_ENST00000413353.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding (GO:0005524)	p.?(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAACCTAGGAGAATACAAAAC	0.373																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						129.0	128.0	128.0					2																	237300721		1866	4097	5963	236965460	SO:0001627	intron_variant	79781	.			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1318-7C>A	2.37:g.237300721G>T		Somatic		Capture	Illumina HiSeq	Phase_I	236965460	.	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Intron	SNP	ENST00000409907.3	37	CCDS46549.1																																																																																				0.373	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
LRRFIP1	9208	broad.mit.edu	37	2	238656998	238656998	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238656998C>T	ENST00000392000.4	+	5	366				LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.?(2)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TGTCTGTTTTCGTCTACAGGT	0.323																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						99.0	101.0	101.0					2																	238656998		2203	4300	6503	238321737	SO:0001627	intron_variant	9208	.			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.250-9C>T	2.37:g.238656998C>T		Somatic		Capture	Illumina HiSeq	Phase_I	238321737	.	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Intron	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																				0.323	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
RBM44	375316	broad.mit.edu	37	2	238729905	238729905	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:238729905T>C	ENST00000409864.1	+	6	2354				RBM44_ENST00000316997.4_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44							cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.?(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGGGTATGTATATATGTTTTA	0.308																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	2						.						29.0	27.0	27.0					2																	238729905		1788	4057	5845	238394644	SO:0001627	intron_variant	375316	.			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2100+8T>C	2.37:g.238729905T>C		Somatic		Capture	Illumina HiSeq	Phase_I	238394644	.	A0AUW3	Intron	SNP	ENST00000409864.1	37	CCDS46554.1																																																																																				0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
FARP2	9855	broad.mit.edu	37	2	242380893	242380893	+	Missense_Mutation	SNP	C	C	T	rs369372470		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr2:242380893C>T	ENST00000264042.3	+	13	1503	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	FARP2_ENST00000373287.4_Missense_Mutation_p.R445C|FARP2_ENST00000545004.1_Missense_Mutation_p.R445C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	445					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R445C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGCAGAGAGGCGCAGTGGAGC	0.642																																					p.R445C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	2						.	A	CYS/ARG	0,4406		0,0,2203	49.0	47.0	47.0		1333	3.9	0.8	2		47	3,8597		0,3,4297	no	missense	FARP2	NM_014808.2	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	445/1055	242380893	3,13003	2203	4300	6503	242029566	SO:0001583	missense	9855	exon13			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1333C>T	2.37:g.242380893C>T	ENSP00000264042:p.Arg445Cys	Somatic		Capture	Illumina HiSeq	Phase_I	242029566	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591755	0.66219	0.0	3.49E-4	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	T;D;D;T	0.81821	-0.93;-1.54;-1.54;-1.47	5.08	3.92	0.45320	.	1.085280	0.06829	N	0.793626	T	0.63355	0.2504	N	0.08118	0	0.22330	N	0.999199	B;B;B	0.24882	0.087;0.087;0.113	B;B;B	0.11329	0.006;0.004;0.003	T	0.53570	-0.8420	10	0.59425	D	0.04	.	5.1885	0.15197	0.6905:0.1524:0.1571:0.0	.	445;445;445	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	445;445;445;132	ENSP00000264042:R445C;ENSP00000443876:R445C;ENSP00000362384:R445C;ENSP00000412772:R132C	ENSP00000264042:R445C	R	+	1	0	FARP2	242029566	0.615000	0.27026	0.844000	0.33320	0.491000	0.33493	1.170000	0.31883	0.278000	0.22164	-0.256000	0.11100	CGC		0.642	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
MRPS22	56945	broad.mit.edu	37	3	139071590	139071591	+	Frame_Shift_Ins	INS	-	-	A	rs372605627		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:139071590_139071591insA	ENST00000495075.1	+	8	1266_1267	c.834_835insA	c.(835-837)aaafs	p.K279fs	MRPS22_ENST00000310776.4_Frame_Shift_Ins_p.K279fs|MRPS22_ENST00000478464.1_Frame_Shift_Ins_p.K238fs|MRPS22_ENST00000465056.1_Frame_Shift_Ins_p.K278fs			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	279						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.I281fs*2(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTGTAAATAATAAAAAGATTGA	0.322																																					p.N278fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.834_835insA	3						.																																			140554281	SO:0001589	frameshift_variant	56945	exon6			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.839dupA	3.37:g.139071595_139071595dupA	ENSP00000418008:p.Lys279fs	Somatic		Capture	Illumina HiSeq	Phase_I	140554280	NM_020191	Q9H3I1	Frame_Shift_Ins	INS	ENST00000495075.1	37	CCDS3107.1																																																																																				0.322	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191	
CCDC39	339829	broad.mit.edu	37	3	180337133	180337133	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:180337133delT	ENST00000442201.2	-	16	2298	c.2179delA	c.(2179-2181)attfs	p.I727fs	CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	727					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.I727fs*3(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTAGTTGAATTTTTAGCTCA	0.289																																					p.I727fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2179delA	3						.						127.0	104.0	111.0					3																	180337133		1734	3973	5707	181819827	SO:0001589	frameshift_variant	339829	exon16			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2179delA	3.37:g.180337133delT	ENSP00000405708:p.Ile727fs	Somatic		Capture	Illumina HiSeq	Phase_I	181819827	NM_181426	B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	CCDS46964.1																																																																																				0.289	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
FILIP1L	11259	broad.mit.edu	37	3	99567715	99567715	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:99567715C>A	ENST00000354552.3	-	5	3275	c.2805G>T	c.(2803-2805)gtG>gtT	p.V935V	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Silent_p.V511V|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Silent_p.V695V|FILIP1L_ENST00000383694.2_Silent_p.V695V|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Silent_p.V935V	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	935						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V935V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						AGTTCGGTATCACTGCAGTAC	0.448																																					p.V695V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2085T	3						.						295.0	283.0	287.0					3																	99567715		2043	4182	6225	101050405	SO:0001819	synonymous_variant	11259	exon2				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2805G>T	3.37:g.99567715C>A		Somatic		Capture	Illumina HiSeq	Phase_I	101050405	NM_014890	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																				0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
FILIP1L	11259	broad.mit.edu	37	3	99569207	99569207	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:99569207T>G	ENST00000354552.3	-	5	1783	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.K14T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.K198T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.K198T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.K438T	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	438						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K438T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCATTCTTGTTTGCTTTTGTT	0.358																																					p.K198T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A593C	3						.						112.0	106.0	108.0					3																	99569207		1835	4074	5909	101051897	SO:0001583	missense	11259	exon2				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1313A>C	3.37:g.99569207T>G	ENSP00000346560:p.Lys438Thr	Somatic		Capture	Illumina HiSeq	Phase_I	101051897	NM_014890	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980176	0.53827	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.45276	0.9;1.07;1.43;0.9;1.43;1.45	5.55	4.38	0.52667	.	0.000000	0.56097	D	0.000031	T	0.62270	0.2414	M	0.80982	2.52	0.42493	D	0.992909	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.915	T	0.62987	-0.6737	10	0.38643	T	0.18	-16.8738	11.2378	0.48951	0.0:0.0721:0.0:0.9279	.	438;438	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	438;14;198;438;198;184;198	ENSP00000346560:K438T;ENSP00000417774:K14T;ENSP00000419642:K198T;ENSP00000327880:K438T;ENSP00000373192:K198T;ENSP00000419874:K198T	ENSP00000327880:K438T	K	-	2	0	FILIP1L	101051897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.237000	0.58681	0.925000	0.37094	0.533000	0.62120	AAA		0.358	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
FILIP1L	11259	broad.mit.edu	37	3	99643225	99643225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:99643225C>A	ENST00000354552.3	-	4	924	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000398326.2_Nonsense_Mutation_p.E152*|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.E152*	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	152						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E152*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGTAAGATTCTTTATGTTTT	0.343																																					p.E152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G454T	3						.						185.0	170.0	174.0					3																	99643225		1825	4081	5906	101125915	SO:0001587	stop_gained	11259	exon4				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.454G>T	3.37:g.99643225C>A	ENSP00000346560:p.Glu152*	Somatic		Capture	Illumina HiSeq	Phase_I	101125915	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	40	8.198959	0.98701	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	.	.	.	5.5	5.5	0.81552	.	0.277746	0.25233	N	0.032148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-6.3941	19.3822	0.94542	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000327880:E152X	E	-	1	0	FILIP1L	101125915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.154000	0.77437	2.598000	0.87819	0.585000	0.79938	GAA		0.343	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
CMSS1	84319	broad.mit.edu	37	3	99865849	99865849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:99865849G>T	ENST00000421999.2	+	2	243	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	CMSS1_ENST00000489081.1_Nonsense_Mutation_p.E15*	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	33							poly(A) RNA binding (GO:0044822)	p.E33K(1)|p.E33*(1)									AGGAGACACAGAAGTGATGCA	0.433																																					p.E15X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	urinary_tract(1)|large_intestine(1)	c.G43T	3						.						101.0	95.0	97.0					3																	99865849		2203	4300	6503	101348539	SO:0001587	stop_gained	84319	exon2				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.97G>T	3.37:g.99865849G>T	ENSP00000410396:p.Glu33*	Somatic		Capture	Illumina HiSeq	Phase_I	101348539	NM_001167924	A8K5S7|B4DUM1|E9PHS3	Nonsense_Mutation	SNP	ENST00000421999.2	37	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656195	0.47467	.	.	ENSG00000184220	ENST00000421999;ENST00000489081	.	.	.	4.29	2.49	0.30216	.	0.630206	0.17115	N	0.186444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.005	0.19541	0.1049:0.1933:0.7018:0.0	.	.	.	.	X	33;15	.	.	E	+	1	0	C3orf26	101348539	0.796000	0.28864	0.269000	0.24586	0.523000	0.34469	1.277000	0.33167	0.558000	0.29135	-0.121000	0.15023	GAA		0.433	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359	
TOMM70A	9868	broad.mit.edu	37	3	100086982	100086982	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100086982G>T	ENST00000284320.5	-	11	2027	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	527					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.L527M(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CCTCTATCCAGATCTTGCTTC	0.368																																					p.L527M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1579A	3						.						108.0	104.0	105.0					3																	100086982		2203	4300	6503	101569672	SO:0001583	missense	9868	exon11			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1579C>A	3.37:g.100086982G>T	ENSP00000284320:p.Leu527Met	Somatic		Capture	Illumina HiSeq	Phase_I	101569672	NM_014820	D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999128	0.74818	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60299	0.2	5.88	4.96	0.65561	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.35542	1.07	0.54753	D	0.999983	D	0.60160	0.987	P	0.57846	0.828	T	0.56486	-0.7971	10	0.41790	T	0.15	-7.7736	5.5937	0.17315	0.4122:0.0:0.5878:0.0	.	527	O94826	TOM70_HUMAN	M	527;420	ENSP00000284320:L527M	ENSP00000284320:L527M	L	-	1	2	TOMM70A	101569672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.605000	0.46283	1.356000	0.45884	0.655000	0.94253	CTG		0.368	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2		
GPR128	84873	broad.mit.edu	37	3	100373865	100373865	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100373865G>A	ENST00000273352.3	+	12	1834	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	GPR128_ENST00000475887.1_Silent_p.P227P|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	522					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P522P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTAACATCCCGAATCCCATGT	0.423																																					p.P522P	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1566A	3						.						229.0	196.0	207.0					3																	100373865		2203	4300	6503	101856555	SO:0001819	synonymous_variant	84873	exon12			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1566G>A	3.37:g.100373865G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101856555	NM_032787	Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	CCDS2938.1																																																																																				0.423	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
GPR128	84873	broad.mit.edu	37	3	100387896	100387896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100387896G>T	ENST00000273352.3	+	15	2351	c.2083G>T	c.(2083-2085)Gat>Tat	p.D695Y	GPR128_ENST00000475887.1_Missense_Mutation_p.D400Y|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	695					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D695Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGTTAATGATGATAGCATCAG	0.398																																					p.D695Y	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2083T	3						.						123.0	109.0	114.0					3																	100387896		2203	4300	6503	101870586	SO:0001583	missense	84873	exon15			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2083G>T	3.37:g.100387896G>T	ENSP00000273352:p.Asp695Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	101870586	NM_032787	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077806	0.20227	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.47177	0.85;0.85	5.39	1.38	0.22167	GPCR, family 2-like (1);	0.648374	0.15257	N	0.272004	T	0.63165	0.2488	M	0.81179	2.53	0.09310	N	1	D;D	0.89917	0.991;1.0	P;D	0.71414	0.876;0.973	T	0.49652	-0.8917	10	0.66056	D	0.02	.	5.5157	0.16906	0.2607:0.1478:0.5915:0.0	.	400;695	E9PHI0;Q96K78	.;GP128_HUMAN	Y	695;400	ENSP00000273352:D695Y;ENSP00000419788:D400Y	ENSP00000273352:D695Y	D	+	1	0	GPR128	101870586	0.746000	0.28272	0.010000	0.14722	0.012000	0.07955	1.067000	0.30616	0.649000	0.30751	-0.150000	0.13652	GAT		0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
GPR128	84873	broad.mit.edu	37	3	100413801	100413801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100413801G>A	ENST00000273352.3	+	16	2618	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	GPR128_ENST00000475887.1_Missense_Mutation_p.E489K|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	784					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E784K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTACTGAGGAAATCACACT	0.433																																					p.E784K	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2350A	3						.						122.0	116.0	118.0					3																	100413801		2203	4300	6503	101896491	SO:0001583	missense	84873	exon16			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2350G>A	3.37:g.100413801G>A	ENSP00000273352:p.Glu784Lys	Somatic		Capture	Illumina HiSeq	Phase_I	101896491	NM_032787	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835791	0.50951	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.44881	0.91;1.32	5.74	4.86	0.63082	.	1.087730	0.06948	N	0.814062	T	0.41305	0.1153	L	0.55103	1.725	0.22911	N	0.998577	B;B	0.27286	0.174;0.067	B;B	0.24541	0.054;0.054	T	0.18272	-1.0342	10	0.35671	T	0.21	.	11.0497	0.47880	0.0876:0.0:0.9124:0.0	.	489;784	E9PHI0;Q96K78	.;GP128_HUMAN	K	784;489	ENSP00000273352:E784K;ENSP00000419788:E489K	ENSP00000273352:E784K	E	+	1	0	GPR128	101896491	0.947000	0.32204	0.255000	0.24374	0.016000	0.09150	1.385000	0.34408	2.709000	0.92574	0.655000	0.94253	GAA		0.433	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
TFG	10342	broad.mit.edu	37	3	100451455	100451455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100451455C>A	ENST00000240851.4	+	5	859	c.519C>A	c.(517-519)aaC>aaA	p.N173K	TFG_ENST00000490574.1_Missense_Mutation_p.N173K|TFG_ENST00000476228.1_Missense_Mutation_p.N173K|TFG_ENST00000418917.2_Missense_Mutation_p.N173K	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	173					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.N173K(2)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTTAAAAAACCAAGATGAAA	0.393			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																p.N173K			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C519A	3						.						90.0	91.0	91.0					3																	100451455		2203	4300	6503	101934145	SO:0001583	missense	10342	exon5			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.519C>A	3.37:g.100451455C>A	ENSP00000240851:p.Asn173Lys	Somatic		Capture	Illumina HiSeq	Phase_I	101934145	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430695	0.62844	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000487505	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.94	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.62709	-0.6797	10	0.40728	T	0.16	-9.4651	11.3455	0.49559	0.0:0.8528:0.0:0.1472	.	173;173	G5E9V1;Q92734	.;TFG_HUMAN	K	173	ENSP00000397182:N173K;ENSP00000419960:N173K;ENSP00000240851:N173K;ENSP00000417952:N173K;ENSP00000420797:N173K	ENSP00000240851:N173K	N	+	3	2	TFG	101934145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.437000	0.34991	2.812000	0.96745	0.557000	0.71058	AAC		0.393	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
TFG	10342	broad.mit.edu	37	3	100467326	100467326	+	Missense_Mutation	SNP	G	G	A	rs373719892		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100467326G>A	ENST00000240851.4	+	8	1494	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	TFG_ENST00000490574.1_Missense_Mutation_p.R385H|TFG_ENST00000476228.1_Missense_Mutation_p.R381H|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Missense_Mutation_p.R381H	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	385					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.R385H(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCGCGTAACCGTCCTCCCTTT	0.517			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																p.R385H			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154A	3						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	77.0	79.0		1154,1154,1142,1154	6.0	1.0	3		79	0,8600		0,0,4300	no	missense,missense,missense,missense	TFG	NM_001007565.2,NM_001195478.1,NM_001195479.1,NM_006070.5	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	385/401,385/401,381/397,385/401	100467326	1,13005	2203	4300	6503	101950016	SO:0001583	missense	10342	exon8			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1154G>A	3.37:g.100467326G>A	ENSP00000240851:p.Arg385His	Somatic		Capture	Illumina HiSeq	Phase_I	101950016	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642601	0.87859	2.27E-4	0.0	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.49432	0.78;0.79;0.79;0.78	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.50197	-0.8856	10	0.27082	T	0.32	-9.1613	20.5373	0.99239	0.0:0.0:1.0:0.0	.	381;385	G5E9V1;Q92734	.;TFG_HUMAN	H	381;385;385;381	ENSP00000397182:R381H;ENSP00000419960:R385H;ENSP00000240851:R385H;ENSP00000417952:R381H	ENSP00000240851:R385H	R	+	2	0	TFG	101950016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.857000	0.98124	0.650000	0.86243	CGT		0.517	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
IRAK2	3656	broad.mit.edu	37	3	10242116	10242116	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:10242116A>C	ENST00000256458.4	+	3	431	c.341A>C	c.(340-342)aAg>aCg	p.K114T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	114					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.K114T(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AAGCCAGAAAAGCCTTTGGCA	0.478																																					p.K114T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A341C	3						.						89.0	92.0	91.0					3																	10242116		2203	4300	6503	10217116	SO:0001583	missense	3656	exon3			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.341A>C	3.37:g.10242116A>C	ENSP00000256458:p.Lys114Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10217116	NM_001570	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	A	2.324	-0.354904	0.05138	.	.	ENSG00000134070	ENST00000256458	T	0.53206	0.63	2.89	-0.0579	0.13799	.	1.269400	0.05471	N	0.553016	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.16660	-1.0395	10	0.14252	T	0.57	-0.2917	5.2725	0.15632	0.453:0.0:0.547:0.0	.	114	O43187	IRAK2_HUMAN	T	114	ENSP00000256458:K114T	ENSP00000256458:K114T	K	+	2	0	IRAK2	10217116	0.001000	0.12720	0.001000	0.08648	0.071000	0.16799	0.229000	0.17833	-0.024000	0.13941	-0.132000	0.14878	AAG		0.478	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
ABI3BP	25890	broad.mit.edu	37	3	100621475	100621475	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100621475C>A	ENST00000284322.5	-	3	445	c.336G>T	c.(334-336)aaG>aaT	p.K112N	ABI3BP_ENST00000471714.1_Missense_Mutation_p.K112N|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.K112N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	112					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.K112N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACATGACTTCTTTTGACTTG	0.393																																					p.K112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	3						.						82.0	80.0	81.0					3																	100621475		1887	4134	6021	102104165	SO:0001583	missense	25890	exon3			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.336G>T	3.37:g.100621475C>A	ENSP00000284322:p.Lys112Asn	Somatic		Capture	Illumina HiSeq	Phase_I	102104165	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609639	0.87258	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T	0.29397	1.71;1.57;2.53	5.79	5.79	0.91817	.	0.142500	0.64402	D	0.000006	T	0.47021	0.1423	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	P;D;P	0.71656	0.859;0.974;0.811	T	0.41556	-0.9502	10	0.87932	D	0	-10.7084	18.8126	0.92064	0.0:1.0:0.0:0.0	.	105;112;112	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	N	112;112;112;31;52	ENSP00000420524:K112N;ENSP00000284322:K112N;ENSP00000436918:K52N	ENSP00000284322:K112N	K	-	3	2	ABI3BP	102104165	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.670000	0.61583	2.739000	0.93911	0.655000	0.94253	AAG		0.393	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
IMPG2	50939	broad.mit.edu	37	3	100948265	100948265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100948265C>A	ENST00000193391.7	-	17	3779	c.3592G>T	c.(3592-3594)Gaa>Taa	p.E1198*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1198					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E1198*(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGTCTGATTTCTTCTCTGCTC	0.517																																					p.E1198X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3592T	3						.						155.0	136.0	142.0					3																	100948265		2203	4300	6503	102430955	SO:0001587	stop_gained	50939	exon17			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3592G>T	3.37:g.100948265C>A	ENSP00000193391:p.Glu1198*	Somatic		Capture	Illumina HiSeq	Phase_I	102430955	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Nonsense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	43	10.211272	0.99360	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.6308	19.8965	0.96963	0.0:1.0:0.0:0.0	.	.	.	.	X	1198	.	ENSP00000193391:E1198X	E	-	1	0	IMPG2	102430955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.752000	0.68728	2.717000	0.92951	0.655000	0.94253	GAA		0.517	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
IMPG2	50939	broad.mit.edu	37	3	100962706	100962706	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100962706G>T	ENST00000193391.7	-	13	2656	c.2469C>A	c.(2467-2469)atC>atA	p.I823I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	823					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.I823I(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCAGGGTGGAGATTGTGGTTG	0.458																																					p.I823I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2469A	3						.						103.0	105.0	105.0					3																	100962706		2203	4300	6503	102445396	SO:0001819	synonymous_variant	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2469C>A	3.37:g.100962706G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102445396	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.458	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
IRAK2	3656	broad.mit.edu	37	3	10280549	10280549	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:10280549G>A	ENST00000256458.4	+	12	1681	c.1591G>A	c.(1591-1593)Gac>Aac	p.D531N		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	531					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.D531N(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGAAACAGACGACGTTGACAA	0.597																																					p.D531N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1591A	3						.						84.0	81.0	82.0					3																	10280549		2203	4300	6503	10255549	SO:0001583	missense	3656	exon12			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1591G>A	3.37:g.10280549G>A	ENSP00000256458:p.Asp531Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10255549	NM_001570	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544551	0.86022	.	.	ENSG00000134070	ENST00000256458	T	0.54675	0.56	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000027	T	0.66963	0.2843	L	0.54323	1.7	0.19575	N	0.999966	D	0.89917	1.0	D	0.83275	0.996	T	0.59643	-0.7416	10	0.41790	T	0.15	-28.3344	14.3607	0.66768	0.0:0.0:1.0:0.0	.	531	O43187	IRAK2_HUMAN	N	531	ENSP00000256458:D531N	ENSP00000256458:D531N	D	+	1	0	IRAK2	10255549	0.920000	0.31207	0.070000	0.20053	0.656000	0.38851	4.489000	0.60309	2.448000	0.82819	0.462000	0.41574	GAC		0.597	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
TATDN2	9797	broad.mit.edu	37	3	10290911	10290911	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:10290911G>T	ENST00000287652.4	+	2	1078	c.27G>T	c.(25-27)aaG>aaT	p.K9N	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.K9N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	9					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.K9N(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCAAGGTCAAGCACAACTGGA	0.672																																					p.K9N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G27T	3						.						48.0	48.0	48.0					3																	10290911		2202	4298	6500	10265911	SO:0001583	missense	9797	exon2			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.27G>T	3.37:g.10290911G>T	ENSP00000287652:p.Lys9Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10265911	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383437	0.82792	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.31247	1.5;1.5	3.77	3.77	0.43336	.	.	.	.	.	T	0.35941	0.0949	L	0.60455	1.87	0.34471	D	0.702752	D	0.54047	0.964	P	0.47118	0.538	T	0.56269	-0.8007	9	0.87932	D	0	-24.6123	11.3175	0.49401	0.0:0.0:1.0:0.0	.	9	Q93075	TATD2_HUMAN	N	9	ENSP00000287652:K9N;ENSP00000408736:K9N	ENSP00000287652:K9N	K	+	3	2	TATDN2	10265911	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.340000	0.43974	2.104000	0.64026	0.563000	0.77884	AAG		0.672	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
IMPG2	50939	broad.mit.edu	37	3	100963059	100963059	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100963059T>C	ENST00000193391.7	-	13	2303	c.2116A>G	c.(2116-2118)Ata>Gta	p.I706V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	706					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.I706V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACTTCTGATATGTGCTTGGGG	0.478																																					p.I706V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2116G	3						.						74.0	61.0	66.0					3																	100963059		2203	4300	6503	102445749	SO:0001583	missense	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2116A>G	3.37:g.100963059T>C	ENSP00000193391:p.Ile706Val	Somatic		Capture	Illumina HiSeq	Phase_I	102445749	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.164392	0.01673	.	.	ENSG00000081148	ENST00000193391	T	0.21734	1.99	5.41	4.25	0.50352	.	0.512402	0.19465	N	0.113616	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37126	-0.9719	10	0.09338	T	0.73	0.0237	7.1704	0.25715	0.0:0.0785:0.1576:0.7638	.	706;706	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	V	706	ENSP00000193391:I706V	ENSP00000193391:I706V	I	-	1	0	IMPG2	102445749	0.251000	0.23961	0.004000	0.12327	0.020000	0.10135	1.866000	0.39489	0.999000	0.39023	-0.250000	0.11733	ATA		0.478	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
ATP2B2	491	broad.mit.edu	37	3	10382369	10382369	+	Silent	SNP	G	G	A	rs530163146		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:10382369G>A	ENST00000352432.4	-	19	3006	c.2937C>T	c.(2935-2937)atC>atT	p.I979I	ATP2B2_ENST00000397077.1_Silent_p.I934I|ATP2B2_ENST00000360273.2_Silent_p.I979I|ATP2B2_ENST00000343816.4_Silent_p.I965I|ATP2B2_ENST00000383800.4_Silent_p.I934I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	979					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I934I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCCGCTGTCGATCTGGAACA	0.582																																					p.I934I	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2802T	3						.						137.0	118.0	124.0					3																	10382369		2203	4300	6503	10357369	SO:0001819	synonymous_variant	491	exon17			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2937C>T	3.37:g.10382369G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10357369	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
CEP97	79598	broad.mit.edu	37	3	101483773	101483773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:101483773C>T	ENST00000341893.3	+	11	2728	c.1976C>T	c.(1975-1977)aCt>aTt	p.T659I	CEP97_ENST00000327230.4_Missense_Mutation_p.T685I|CEP97_ENST00000494050.1_Missense_Mutation_p.T600I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	659	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.T659I(1)|p.T685I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATATCAAGTACTCTTGTGCCA	0.433																																					p.T659I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1976T	3						.						147.0	144.0	145.0					3																	101483773		2203	4300	6503	102966463	SO:0001583	missense	79598	exon11			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1976C>T	3.37:g.101483773C>T	ENSP00000342510:p.Thr659Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102966463	NM_024548	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277848	0.23307	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.58797	0.52;0.31;0.34	5.95	5.08	0.68730	.	0.639487	0.15946	N	0.236966	T	0.52370	0.1730	M	0.67953	2.075	0.09310	N	1	B;B	0.18863	0.031;0.024	B;B	0.16289	0.015;0.005	T	0.45249	-0.9274	10	0.33141	T	0.24	-8.1005	7.2246	0.26007	0.0:0.6885:0.1399:0.1716	.	600;659	E9PG22;Q8IW35	.;CEP97_HUMAN	I	659;685;600	ENSP00000342510:T659I;ENSP00000325881:T685I;ENSP00000418185:T600I	ENSP00000325881:T685I	T	+	2	0	CEP97	102966463	0.055000	0.20627	0.534000	0.28014	0.687000	0.40016	0.416000	0.21198	1.513000	0.48852	0.650000	0.86243	ACT		0.433	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
CCDC54	84692	broad.mit.edu	37	3	107096815	107096815	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:107096815C>T	ENST00000261058.1	+	1	628	c.381C>T	c.(379-381)ctC>ctT	p.L127L		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	127								p.L127L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAGATATCCTCTCTATGAAAG	0.398																																					p.L127L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C381T	3						.						55.0	50.0	52.0					3																	107096815		2202	4300	6502	108579505	SO:0001819	synonymous_variant	84692	exon1			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.381C>T	3.37:g.107096815C>T		Somatic		Capture	Illumina HiSeq	Phase_I	108579505	NM_032600	Q96A43	Silent	SNP	ENST00000261058.1	37	CCDS2949.1																																																																																				0.398	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600	
BBX	56987	broad.mit.edu	37	3	107474461	107474461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:107474461C>T	ENST00000325805.8	+	10	1129	c.842C>T	c.(841-843)tCg>tTg	p.S281L	BBX_ENST00000402543.1_Missense_Mutation_p.S281L|BBX_ENST00000416476.2_Missense_Mutation_p.S281L|BBX_ENST00000406780.1_Missense_Mutation_p.S281L|BBX_ENST00000415149.2_Missense_Mutation_p.S281L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	281					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S281L(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCAAACACTTCGCAGTTGGGT	0.373																																					p.S281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C842T	3						.						115.0	124.0	121.0					3																	107474461		2203	4300	6503	108957151	SO:0001583	missense	56987	exon10			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.842C>T	3.37:g.107474461C>T	ENSP00000319974:p.Ser281Leu	Somatic		Capture	Illumina HiSeq	Phase_I	108957151	NM_020235	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529070	0.85706	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	D;D;D;D;D;D	0.99143	-4.88;-4.88;-4.88;-5.48;-5.45;-4.88	5.57	5.57	0.84162	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.113287	0.64402	D	0.000008	D	0.99152	0.9707	M	0.76328	2.33	0.47276	D	0.999371	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.949;0.975	D	0.99285	1.0897	10	0.87932	D	0	-4.7904	15.3872	0.74711	0.0:1.0:0.0:0.0	.	281;281;281;281	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	L	281;132;281;281;281;281;281	ENSP00000408358:S281L;ENSP00000385317:S281L;ENSP00000319974:S281L;ENSP00000403860:S281L;ENSP00000385518:S281L;ENSP00000385530:S281L	ENSP00000319742:S132L	S	+	2	0	BBX	108957151	0.997000	0.39634	0.990000	0.47175	0.984000	0.73092	4.538000	0.60650	2.779000	0.95612	0.591000	0.81541	TCG		0.373	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
CD47	961	broad.mit.edu	37	3	107778347	107778347	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:107778347T>A	ENST00000361309.5	-	5	748	c.643A>T	c.(643-645)Act>Tct	p.T215S	CD47_ENST00000355354.7_Missense_Mutation_p.T215S	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	215					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.T215S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CCTGTAGAAGTCACAATTAAA	0.269																																					p.T215S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643T	3						.						92.0	85.0	87.0					3																	107778347		1799	4058	5857	109261037	SO:0001583	missense	961	exon5				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.643A>T	3.37:g.107778347T>A	ENSP00000355361:p.Thr215Ser	Somatic		Capture	Illumina HiSeq	Phase_I	109261037	NM_198793	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.27|10.27	1.304131|1.304131	0.23736|0.23736	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000355354;ENST00000361309|ENST00000517766	.|.	.|.	.|.	5.81|5.81	-0.898|-0.898	0.10550|0.10550	CD47 transmembrane (1);|.	0.967914|.	0.08550|.	N|.	0.929146|.	T|.	0.18087|.	0.0434|.	N|N	0.14661|0.14661	0.345|0.345	0.20196|0.20196	N|N	0.999922|0.999922	P;P;P;P|.	0.37573|.	0.545;0.545;0.6;0.6|.	B;B;B;B|.	0.39299|.	0.196;0.196;0.296;0.296|.	T|.	0.28267|.	-1.0049|.	9|.	0.87932|.	D|.	0|.	.|.	5.1695|5.1695	0.15103|0.15103	0.0:0.3689:0.1603:0.4708|0.0:0.3689:0.1603:0.4708	.|.	215;215;215;215|.	Q08722-2;Q08722-3;E9PB22;Q08722|.	.;.;.;CD47_HUMAN|.	S|C	215|11	.|.	ENSP00000347512:T215S|.	T|X	-|-	1|3	0|0	CD47|CD47	109261037|109261037	1.000000|1.000000	0.71417|0.71417	0.589000|0.589000	0.28718|0.28718	0.329000|0.329000	0.28539|0.28539	0.242000|0.242000	0.18087|0.18087	-0.128000|-0.128000	0.11641|0.11641	-0.290000|-0.290000	0.09829|0.09829	ACT|TGA		0.269	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	
MYH15	22989	broad.mit.edu	37	3	108211962	108211962	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:108211962G>T	ENST00000273353.3	-	9	890	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	278	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I278I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACTACTTACAGATATCAATGT	0.433																																					p.I278I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834A	3						.						97.0	94.0	95.0					3																	108211962		2024	4181	6205	109694652	SO:0001630	splice_region_variant	22989	exon9			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.835+1C>A	3.37:g.108211962G>T		Somatic		Capture	Illumina HiSeq	Phase_I	109694652	NM_014981		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Silent
KIAA1524	57650	broad.mit.edu	37	3	108276119	108276119	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:108276119G>A	ENST00000295746.8	-	17	2232	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.S560F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	719					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S719F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCAGCCACAGACTCTAACTT	0.378																																					p.S719F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2156T	3						.						140.0	137.0	138.0					3																	108276119		2202	4299	6501	109758809	SO:0001583	missense	57650	exon17			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2156C>T	3.37:g.108276119G>A	ENSP00000295746:p.Ser719Phe	Somatic		Capture	Illumina HiSeq	Phase_I	109758809	NM_020890	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624147	0.87560	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.19394	2.15;2.15	6.03	6.03	0.97812	.	0.318910	0.33670	N	0.004663	T	0.23766	0.0575	N	0.19112	0.55	0.39530	D	0.968655	P	0.50710	0.938	P	0.47705	0.555	T	0.01175	-1.1428	10	0.56958	D	0.05	-12.6373	20.5752	0.99366	0.0:0.0:1.0:0.0	.	719	Q8TCG1	CIP2A_HUMAN	F	560;719	ENSP00000419487:S560F;ENSP00000295746:S719F	ENSP00000295746:S719F	S	-	2	0	KIAA1524	109758809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.868000	0.98415	0.557000	0.71058	TCT		0.378	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
KIAA1524	57650	broad.mit.edu	37	3	108295159	108295159	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:108295159A>C	ENST00000295746.8	-	8	929	c.853T>G	c.(853-855)Tta>Gta	p.L285V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L126V|SNORA70_ENST00000365509.1_RNA|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	285					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L285V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGACCTAATACTTGGTGA	0.279																																					p.L285V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T853G	3						.						76.0	88.0	84.0					3																	108295159		2201	4292	6493	109777849	SO:0001583	missense	57650	exon8			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.853T>G	3.37:g.108295159A>C	ENSP00000295746:p.Leu285Val	Somatic		Capture	Illumina HiSeq	Phase_I	109777849	NM_020890	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385956	0.61956	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.49139	0.79;1.26	5.91	-0.398	0.12418	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.60753	0.2293	M	0.66939	2.045	0.51233	D	0.99991	D	0.71674	0.998	D	0.75020	0.985	T	0.62497	-0.6842	10	0.87932	D	0	-7.1929	10.6785	0.45799	0.5555:0.0:0.4445:0.0	.	285	Q8TCG1	CIP2A_HUMAN	V	126;285	ENSP00000419487:L126V;ENSP00000295746:L285V	ENSP00000295746:L285V	L	-	1	2	KIAA1524	109777849	0.055000	0.20627	0.998000	0.56505	0.841000	0.47740	0.514000	0.22786	0.134000	0.18681	-0.408000	0.06270	TTA		0.279	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
HRH1	3269	broad.mit.edu	37	3	11301192	11301192	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:11301192C>A	ENST00000397056.1	+	3	660	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	HRH1_ENST00000438284.2_Missense_Mutation_p.L157M|HRH1_ENST00000431010.2_Missense_Mutation_p.L157M	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	157					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.L157M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTCTCTTTTCTGTGGGTTAT	0.542																																					p.L157M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	3						.						74.0	78.0	77.0					3																	11301192		2203	4300	6503	11276192	SO:0001583	missense	3269	exon3				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.469C>A	3.37:g.11301192C>A	ENSP00000380247:p.Leu157Met	Somatic		Capture	Illumina HiSeq	Phase_I	11276192	NM_000861	A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646069	0.47258	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.48522	0.81;0.81;0.81	5.98	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.447170	0.22144	N	0.064005	T	0.49932	0.1586	M	0.81942	2.565	0.37715	D	0.924711	P	0.47762	0.9	P	0.45538	0.484	T	0.54964	-0.8214	10	0.59425	D	0.04	-11.6627	5.0373	0.14441	0.4009:0.3958:0.0:0.2033	.	157	P35367	HRH1_HUMAN	M	157	ENSP00000406705:L157M;ENSP00000397028:L157M;ENSP00000380247:L157M	ENSP00000380247:L157M	L	+	1	2	HRH1	11276192	0.946000	0.32159	0.977000	0.42913	0.957000	0.61999	0.360000	0.20250	0.434000	0.26340	-0.136000	0.14681	CTG		0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2		
MORC1	27136	broad.mit.edu	37	3	108818291	108818291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:108818291C>A	ENST00000483760.1	-	6	380	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.D113Y					MORC family CW-type zinc finger 1									p.D113Y(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAATAAAGTCTTTTCCAATT	0.348																																					p.D113Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G337T	3						.						106.0	105.0	106.0					3																	108818291		2201	4299	6500	110300981	SO:0001583	missense	27136	exon6			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.337G>T	3.37:g.108818291C>A	ENSP00000417282:p.Asp113Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	110300981	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.007224	0.75046	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73152	-0.72;-0.72	4.91	4.91	0.64330	ATPase-like, ATP-binding domain (3);	0.000000	0.52532	D	0.000076	D	0.86686	0.5992	M	0.90019	3.08	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89003	0.3423	10	0.72032	D	0.01	-20.2305	15.9856	0.80151	0.0:1.0:0.0:0.0	.	113;113	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	113	ENSP00000232603:D113Y;ENSP00000417282:D113Y	ENSP00000232603:D113Y	D	-	1	0	MORC1	110300981	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.641000	0.74324	2.712000	0.92718	0.650000	0.86243	GAC		0.348	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
ZBED2	79413	broad.mit.edu	37	3	111312513	111312513	+	Missense_Mutation	SNP	C	C	T	rs138334089		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111312513C>T	ENST00000317012.4	-	2	1544	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	179							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R179Q(1)		large_intestine(3)|lung(1)|skin(2)	6						CTCCAGGGCTCGCTCCCTTTT	0.597																																					p.R179Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536A	3						.	C	,GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	101.0	84.0	90.0		,536,	2.5	0.1	3	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense,intron	CD96,ZBED2	NM_005816.4,NM_024508.4,NM_198196.2	,43,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,possibly-damaging,	,179/219,	111312513	3,13003	2203	4300	6503	112795203	SO:0001583	missense	79413	exon2			BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.536G>A	3.37:g.111312513C>T	ENSP00000321370:p.Arg179Gln	Somatic		Capture	Illumina HiSeq	Phase_I	112795203	NM_024508	D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	5.158	0.214723	0.09810	2.27E-4	2.33E-4	ENSG00000177494	ENST00000317012	.	.	.	4.52	2.49	0.30216	.	0.260100	0.19279	U	0.118211	T	0.27384	0.0672	L	0.40543	1.245	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.16335	-1.0406	9	0.31617	T	0.26	-0.0414	3.2654	0.06863	0.2541:0.582:0.0:0.1639	.	179	Q9BTP6	ZBED2_HUMAN	Q	179	.	ENSP00000321370:R179Q	R	-	2	0	ZBED2	112795203	0.040000	0.19996	0.081000	0.20488	0.043000	0.13939	0.447000	0.21710	0.306000	0.22856	0.585000	0.79938	CGA		0.597	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508	
CD96	10225	broad.mit.edu	37	3	111319597	111319597	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111319597G>T	ENST00000283285.5	+	8	1102	c.971G>T	c.(970-972)aGa>aTa	p.R324I	CD96_ENST00000352690.4_Missense_Mutation_p.R308I|CD96_ENST00000438817.2_Missense_Mutation_p.R308I	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	324	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R324I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGAAGAGAGAAAAGGCAAA	0.373									Opitz Trigonocephaly syndrome																												p.R308I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923T	3						.						97.0	97.0	97.0					3																	111319597		2203	4300	6503	112802287	SO:0001583	missense	10225	exon7	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.971G>T	3.37:g.111319597G>T	ENSP00000283285:p.Arg324Ile	Somatic		Capture	Illumina HiSeq	Phase_I	112802287	NM_005816	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458950	0.43634	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.03386	3.95;3.95;3.95	4.62	2.79	0.32731	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.579478	0.17561	N	0.169821	T	0.06325	0.0163	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.65815	0.986;0.982;0.995;0.995	P;P;P;P	0.61800	0.894;0.829;0.894;0.894	T	0.35525	-0.9785	10	0.33940	T	0.23	-2.5997	6.0922	0.20001	0.108:0.1922:0.6998:0.0	.	308;308;324;308	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	I	308;324;308	ENSP00000342040:R308I;ENSP00000283285:R324I;ENSP00000389801:R308I	ENSP00000283285:R324I	R	+	2	0	CD96	112802287	0.299000	0.24426	0.005000	0.12908	0.125000	0.20455	0.854000	0.27791	0.477000	0.27464	-0.127000	0.14921	AGA		0.373	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		
CD96	10225	broad.mit.edu	37	3	111319702	111319702	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111319702C>A	ENST00000283285.5	+	8	1207	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	CD96_ENST00000352690.4_Missense_Mutation_p.S343Y|CD96_ENST00000438817.2_Missense_Mutation_p.S343Y	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	359	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S359Y(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATGGCTCTGTCTCCAGTCCCA	0.383									Opitz Trigonocephaly syndrome																												p.S343Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1028A	3						.						107.0	109.0	108.0					3																	111319702		2203	4300	6503	112802392	SO:0001583	missense	10225	exon7	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1076C>A	3.37:g.111319702C>A	ENSP00000283285:p.Ser359Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112802392	NM_005816	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685615	0.14973	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.62941	0.06;-0.01;-0.01	5.13	0.743	0.18347	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.271262	0.29884	N	0.010949	T	0.48572	0.1507	L	0.29908	0.895	0.32361	N	0.557132	P;P;P;P	0.48640	0.913;0.893;0.913;0.913	P;P;P;P	0.52109	0.69;0.563;0.69;0.69	T	0.56329	-0.7997	10	0.02654	T	1	-5.969	6.2869	0.21039	0.0:0.5178:0.0:0.4822	.	343;343;359;343	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	Y	343;359;343	ENSP00000342040:S343Y;ENSP00000283285:S359Y;ENSP00000389801:S343Y	ENSP00000283285:S359Y	S	+	2	0	CD96	112802392	0.646000	0.27295	0.996000	0.52242	0.460000	0.32559	0.067000	0.14510	0.281000	0.22233	-0.143000	0.13931	TCT		0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		
PLCXD2	257068	broad.mit.edu	37	3	111564708	111564708	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111564708A>C	ENST00000477665.1	+	0	1316				PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000393934.3_Silent_p.R303R	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R303R(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATTCAGCAGAAGATCCTGATG	0.458																																					p.R303R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A907C	3						.						183.0	173.0	176.0					3																	111564708		2203	4300	6503	113047398	SO:0001624	3_prime_UTR_variant	257068	exon4			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*74A>C	3.37:g.111564708A>C		Somatic		Capture	Illumina HiSeq	Phase_I	113047398	NM_153268	Q96N12	Silent	SNP	ENST00000477665.1	37	CCDS54619.1																																																																																				0.458	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	
PHLDB2	90102	broad.mit.edu	37	3	111632380	111632380	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111632380C>T	ENST00000431670.2	+	3	1961	c.1550C>T	c.(1549-1551)gCa>gTa	p.A517V	PHLDB2_ENST00000393925.3_Missense_Mutation_p.A517V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A517V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.A517V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A544V|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A103V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.A517V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	517						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.A517V(2)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCCCTGATGCAGACTTGGCA	0.552																																					p.A517V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1550T	3						.						122.0	123.0	122.0					3																	111632380		2203	4300	6503	113115070	SO:0001583	missense	90102	exon3				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1550C>T	3.37:g.111632380C>T	ENSP00000405405:p.Ala517Val	Somatic		Capture	Illumina HiSeq	Phase_I	113115070	NM_001134439	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149493	0.09185	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.31247	1.5;1.51;1.51;1.51;1.51;1.51;1.5	5.77	0.875	0.19130	.	0.921336	0.09274	N	0.824727	T	0.11707	0.0285	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.09377	0.001;0.0;0.004;0.002;0.002	T	0.33599	-0.9862	10	0.19147	T	0.46	.	3.0206	0.06075	0.1337:0.4611:0.2589:0.1463	.	103;517;517;517;544	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	V	544;544;517;517;517;517;517;517;103	ENSP00000377500:A544V;ENSP00000405405:A517V;ENSP00000405292:A517V;ENSP00000418296:A517V;ENSP00000377502:A517V;ENSP00000418319:A517V;ENSP00000420303:A103V	ENSP00000352764:A544V	A	+	2	0	PHLDB2	113115070	0.004000	0.15560	0.001000	0.08648	0.022000	0.10575	0.228000	0.17814	-0.117000	0.11872	-0.182000	0.12963	GCA		0.552	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
SLC9C1	285335	broad.mit.edu	37	3	111899443	111899443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111899443C>A	ENST00000305815.5	-	22	2968	c.2716G>T	c.(2716-2718)Gga>Tga	p.G906*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.G858*	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	906					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.G906*(1)									ATATAGATTCCTTTGGGCTCA	0.328																																					p.G906X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2716T	3						.						145.0	147.0	146.0					3																	111899443		2203	4300	6503	113382133	SO:0001587	stop_gained	285335	exon22			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2716G>T	3.37:g.111899443C>A	ENSP00000306627:p.Gly906*	Somatic		Capture	Illumina HiSeq	Phase_I	113382133	NM_183061	Q6ZRP4|Q7RTP2	Nonsense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	40	7.983856	0.98594	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	.	.	.	5.39	5.39	0.77823	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.2954	14.7339	0.69402	0.0:1.0:0.0:0.0	.	.	.	.	X	906;858	.	ENSP00000306627:G906X	G	-	1	0	SLC9A10	113382133	1.000000	0.71417	0.992000	0.48379	0.479000	0.33129	3.877000	0.56123	2.529000	0.85273	0.398000	0.26397	GGA		0.328	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C1	285335	broad.mit.edu	37	3	111923151	111923151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:111923151C>A	ENST00000305815.5	-	17	2338	c.2086G>T	c.(2086-2088)Gac>Tac	p.D696Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D648Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	696					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.D696Y(1)									TTAATGGTGTCTATTTCAATA	0.303																																					p.D696Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2086T	3						.						82.0	84.0	83.0					3																	111923151		2202	4294	6496	113405841	SO:0001583	missense	285335	exon17			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2086G>T	3.37:g.111923151C>A	ENSP00000306627:p.Asp696Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	113405841	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565250	0.27915	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78246	-1.16;-1.16	5.72	-11.4	0.00090	.	2.215160	0.01464	N	0.016019	T	0.61640	0.2363	L	0.42744	1.35	0.09310	N	1	B;P	0.44877	0.178;0.845	B;B	0.31337	0.128;0.123	T	0.65598	-0.6129	10	0.42905	T	0.14	.	10.7411	0.46154	0.0:0.1925:0.476:0.3315	.	648;696	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Y	696;648	ENSP00000306627:D696Y;ENSP00000420688:D648Y	ENSP00000306627:D696Y	D	-	1	0	SLC9A10	113405841	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.618000	0.00413	-3.414000	0.00168	-0.467000	0.05162	GAC		0.303	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
CD200	4345	broad.mit.edu	37	3	112066653	112066653	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:112066653G>A	ENST00000315711.8	+	4	727	c.670G>A	c.(670-672)Gac>Aac	p.D224N	CD200_ENST00000473539.1_Missense_Mutation_p.D249N|CD200_ENST00000383681.3_Missense_Mutation_p.D150N	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	224	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D249N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GACTGTGACCGACTTTAAGCA	0.527																																					p.D249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	3						.						85.0	82.0	83.0					3																	112066653		2203	4300	6503	113549343	SO:0001583	missense	4345	exon5				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.670G>A	3.37:g.112066653G>A	ENSP00000312766:p.Asp224Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113549343	NM_001004196	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722654	0.30503	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.70164	1.15;-0.46;-0.4	5.63	0.139	0.14798	Immunoglobulin-like fold (1);	1.179000	0.06089	N	0.663282	T	0.43456	0.1248	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.25850	0.066;0.007;0.004;0.108;0.136	B;B;B;B;B	0.15870	0.01;0.007;0.003;0.014;0.014	T	0.18524	-1.0334	10	0.30854	T	0.27	-0.1086	4.5514	0.12114	0.3419:0.0:0.5184:0.1397	.	224;150;150;224;249	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	N	224;249;150	ENSP00000312766:D224N;ENSP00000420298:D249N;ENSP00000373179:D150N	ENSP00000312766:D224N	D	+	1	0	CD200	113549343	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.323000	0.19593	-0.204000	0.10235	-0.169000	0.13324	GAC		0.527	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1		
CCDC80	151887	broad.mit.edu	37	3	112358100	112358100	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:112358100A>G	ENST00000206423.3	-	2	1606	c.653T>C	c.(652-654)cTc>cCc	p.L218P	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.L218P	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	218					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L218P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTTAGGGATGAGGCTAGGGTC	0.577																																					p.L218P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T653C	3						.						108.0	102.0	104.0					3																	112358100		2203	4300	6503	113840790	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.653T>C	3.37:g.112358100A>G	ENSP00000206423:p.Leu218Pro	Somatic		Capture	Illumina HiSeq	Phase_I	113840790	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690239	0.68271	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.47177	0.85;0.85	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.71581	2.175	0.80722	D	1	P;D;D	0.67145	0.946;0.996;0.957	P;D;P	0.71184	0.678;0.972;0.86	T	0.71708	-0.4511	10	0.87932	D	0	-22.5915	15.4521	0.75282	1.0:0.0:0.0:0.0	.	229;218;218	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	P	218	ENSP00000206423:L218P;ENSP00000411814:L218P	ENSP00000206423:L218P	L	-	2	0	CCDC80	113840790	1.000000	0.71417	0.969000	0.41365	0.953000	0.61014	9.300000	0.96151	2.054000	0.61138	0.454000	0.30748	CTC		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CD200R1	131450	broad.mit.edu	37	3	112643359	112643359	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:112643359T>C	ENST00000471858.1	-	6	1065	c.833A>G	c.(832-834)gAa>gGa	p.E278G	CD200R1_ENST00000308611.3_Missense_Mutation_p.E301G|CD200R1_ENST00000295863.4_Intron	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	278					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E301G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGAGTAGATTCTGttttatt	0.269																																					p.E278G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A833G	3						.						71.0	63.0	66.0					3																	112643359		2190	4281	6471	114126049	SO:0001583	missense	131450	exon6			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.833A>G	3.37:g.112643359T>C	ENSP00000418928:p.Glu278Gly	Somatic		Capture	Illumina HiSeq	Phase_I	114126049	NM_170780	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937377	0.34189	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.15603	2.42;2.41	4.72	0.717	0.18196	.	0.405161	0.17265	U	0.180632	T	0.08670	0.0215	N	0.16656	0.425	0.09310	N	1	B;B	0.23058	0.024;0.079	B;B	0.27796	0.012;0.083	T	0.29941	-0.9995	10	0.31617	T	0.26	.	3.8323	0.08879	0.0:0.2033:0.1876:0.6091	.	278;301	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	G	278;301	ENSP00000418928:E278G;ENSP00000311035:E301G	ENSP00000311035:E301G	E	-	2	0	CD200R1	114126049	0.109000	0.22037	0.001000	0.08648	0.066000	0.16364	0.528000	0.23002	0.191000	0.20236	0.460000	0.39030	GAA		0.269	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
CD200R1	131450	broad.mit.edu	37	3	112647836	112647836	+	Missense_Mutation	SNP	G	G	A	rs377071470		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:112647836G>A	ENST00000471858.1	-	4	759	c.527C>T	c.(526-528)gCg>gTg	p.A176V	CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.A199V|CD200R1_ENST00000295863.4_Missense_Mutation_p.A154V	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	176	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A199V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGAGATATGCGCAGCTGGCTT	0.498																																					p.A176V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C527T	3						.	G	VAL/ALA,,,VAL/ALA	0,4406		0,0,2203	101.0	85.0	90.0		596,,,527	5.4	1.0	3		90	2,8598	2.2+/-6.3	0,2,4298	no	missense,utr-3,utr-3,missense	CD200R1	NM_138806.3,NM_138939.2,NM_138940.2,NM_170780.2	64,,,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,,,probably-damaging	199/349,,,176/326	112647836	2,13004	2203	4300	6503	114130526	SO:0001583	missense	131450	exon4			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.527C>T	3.37:g.112647836G>A	ENSP00000418928:p.Ala176Val	Somatic		Capture	Illumina HiSeq	Phase_I	114130526	NM_170780	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014284	0.75161	0.0	2.33E-4	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.76709	-1.04;-1.04;-1.04	5.43	5.43	0.79202	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.89157	0.6635	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90666	0.4594	10	0.87932	D	0	.	16.1565	0.81673	0.0:0.0:1.0:0.0	.	154;176;199	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	V	176;199;154	ENSP00000418928:A176V;ENSP00000311035:A199V;ENSP00000295863:A154V	ENSP00000295863:A154V	A	-	2	0	CD200R1	114130526	1.000000	0.71417	0.968000	0.41197	0.422000	0.31414	4.283000	0.58977	2.538000	0.85594	0.650000	0.86243	GCG		0.498	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
CD200R1	131450	broad.mit.edu	37	3	112648286	112648286	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:112648286T>G	ENST00000471858.1	-	3	434	c.202A>C	c.(202-204)Aat>Cat	p.N68H	CD200R1_ENST00000440122.2_Missense_Mutation_p.N91H|CD200R1_ENST00000490004.1_Missense_Mutation_p.N68H|CD200R1_ENST00000308611.3_Missense_Mutation_p.N91H|CD200R1_ENST00000295863.4_Missense_Mutation_p.N46H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	68	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.N91H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ATGATCAAATTTCTTAATGCG	0.393																																					p.N68H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A202C	3						.						95.0	92.0	93.0					3																	112648286		2203	4300	6503	114130976	SO:0001583	missense	131450	exon3			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.202A>C	3.37:g.112648286T>G	ENSP00000418928:p.Asn68His	Somatic		Capture	Illumina HiSeq	Phase_I	114130976	NM_170780	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150743	0.37923	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.36	-10.7	0.00240	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.438040	0.01406	N	0.013792	T	0.24851	0.0603	L	0.55481	1.735	0.09310	N	1	P;B;B;B;B	0.41597	0.756;0.036;0.381;0.263;0.343	B;B;B;B;B	0.43251	0.413;0.032;0.083;0.038;0.074	T	0.47459	-0.9116	10	0.62326	D	0.03	.	1.3994	0.02267	0.2846:0.3362:0.1931:0.1861	.	46;68;91;68;91	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	H	68;91;46;91;68	ENSP00000418928:N68H;ENSP00000311035:N91H;ENSP00000295863:N46H;ENSP00000405733:N91H;ENSP00000418801:N68H	ENSP00000295863:N46H	N	-	1	0	CD200R1	114130976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.868000	0.00176	-2.164000	0.00782	-2.808000	0.00112	AAT		0.393	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
SIDT1	54847	broad.mit.edu	37	3	113286547	113286547	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113286547T>G	ENST00000264852.4	+	3	1231	c.505T>G	c.(505-507)Ttc>Gtc	p.F169V	SIDT1_ENST00000393830.3_Missense_Mutation_p.F169V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	169					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.F169V(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCTGAAGCACTTCCAGCTCCG	0.498																																					p.F169V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T505G	3						.						121.0	114.0	117.0					3																	113286547		2203	4300	6503	114769237	SO:0001583	missense	54847	exon3			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.505T>G	3.37:g.113286547T>G	ENSP00000264852:p.Phe169Val	Somatic		Capture	Illumina HiSeq	Phase_I	114769237	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836620	0.91117	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.42900	0.98;0.96	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000006	T	0.59918	0.2229	L	0.52905	1.665	0.58432	D	0.999997	D	0.69078	0.997	D	0.66602	0.945	T	0.60214	-0.7307	10	0.59425	D	0.04	-24.5729	16.8222	0.85835	0.0:0.0:0.0:1.0	.	169	Q9NXL6	SIDT1_HUMAN	V	169	ENSP00000264852:F169V;ENSP00000377416:F169V	ENSP00000264852:F169V	F	+	1	0	SIDT1	114769237	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.833000	0.69349	2.371000	0.80710	0.533000	0.62120	TTC		0.498	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
KIAA2018	205717	broad.mit.edu	37	3	113376501	113376501	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113376501C>T	ENST00000478658.1	-	5	4045	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.R1343H			Q68DE3	K2018_HUMAN	KIAA2018	1343						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R1343H(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTGCTTTTGACGTTTAGCTGA	0.473																																					p.R1343H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4028A	3						.						112.0	110.0	111.0					3																	113376501		1982	4170	6152	114859191	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4028G>A	3.37:g.113376501C>T	ENSP00000420721:p.Arg1343His	Somatic		Capture	Illumina HiSeq	Phase_I	114859191	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608905	0.46527	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.37058	1.22;1.22	5.78	4.91	0.64330	.	0.057998	0.64402	N	0.000003	T	0.25938	0.0632	L	0.36672	1.1	0.80722	D	1	P	0.44659	0.84	B	0.30495	0.116	T	0.08289	-1.0729	10	0.59425	D	0.04	-13.4152	14.858	0.70355	0.0:0.9311:0.0:0.0689	.	1343	Q68DE3	K2018_HUMAN	H	1343	ENSP00000320794:R1343H;ENSP00000420721:R1343H	ENSP00000320794:R1343H	R	-	2	0	KIAA2018	114859191	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.372000	0.79612	1.453000	0.47775	-0.258000	0.10820	CGT		0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
KIAA2018	205717	broad.mit.edu	37	3	113376936	113376936	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113376936G>T	ENST00000478658.1	-	5	3610	c.3593C>A	c.(3592-3594)tCt>tAt	p.S1198Y	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1198Y			Q68DE3	K2018_HUMAN	KIAA2018	1198						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1198Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGAACCCTGAGAATTAAATTC	0.413																																					p.S1198Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3593A	3						.						105.0	93.0	97.0					3																	113376936		1847	4099	5946	114859626	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3593C>A	3.37:g.113376936G>T	ENSP00000420721:p.Ser1198Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	114859626	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194493	0.38806	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.43	4.54	0.55810	.	0.934494	0.09100	N	0.848698	T	0.21841	0.0526	L	0.29908	0.895	0.38313	D	0.943308	P	0.49447	0.924	P	0.46585	0.521	T	0.11012	-1.0605	10	0.87932	D	0	-7.9104	16.0571	0.80814	0.0:0.1345:0.8655:0.0	.	1198	Q68DE3	K2018_HUMAN	Y	1198	ENSP00000320794:S1198Y;ENSP00000420721:S1198Y	ENSP00000320794:S1198Y	S	-	2	0	KIAA2018	114859626	1.000000	0.71417	0.985000	0.45067	0.664000	0.39144	4.829000	0.62737	1.268000	0.44264	0.561000	0.74099	TCT		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
KIAA2018	205717	broad.mit.edu	37	3	113377881	113377881	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113377881G>T	ENST00000478658.1	-	5	2665	c.2648C>A	c.(2647-2649)tCt>tAt	p.S883Y	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S883Y			Q68DE3	K2018_HUMAN	KIAA2018	883	Ser-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S883Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTGACTTAGATTTCGATAC	0.423																																					p.S883Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2648A	3						.						131.0	122.0	125.0					3																	113377881		1919	4137	6056	114860571	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2648C>A	3.37:g.113377881G>T	ENSP00000420721:p.Ser883Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	114860571	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667885	0.03428	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16743	2.32;2.32	4.64	1.65	0.23941	.	1.273100	0.05142	N	0.494394	T	0.12305	0.0299	L	0.27053	0.805	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.46703	T	0.11	-2.0318	3.6115	0.08062	0.0781:0.2792:0.3716:0.271	.	883	Q68DE3	K2018_HUMAN	Y	883	ENSP00000320794:S883Y;ENSP00000420721:S883Y	ENSP00000320794:S883Y	S	-	2	0	KIAA2018	114860571	0.811000	0.29063	0.975000	0.42487	0.172000	0.22775	0.494000	0.22467	0.185000	0.20105	-0.182000	0.12963	TCT		0.423	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
GRAMD1C	54762	broad.mit.edu	37	3	113656962	113656962	+	Missense_Mutation	SNP	G	G	A	rs79673945	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113656962G>A	ENST00000358160.4	+	15	2155	c.1663G>A	c.(1663-1665)Gtc>Atc	p.V555I	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.V388I|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.V350I|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.V284I	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	555						integral component of membrane (GO:0016021)		p.V555I(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAACTATAACGTCACTCTTAT	0.289													g|||	50	0.00998403	0.0356	0.0	5008	,	,		17790	0.0		0.003	False		,,,				2504	0.0				p.V350I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	3						.	G	ILE/VAL,ILE/VAL	87,4315	72.0+/-110.0	1,85,2115	99.0	87.0	91.0		1048,1663	0.5	0.0	3	dbSNP_131	91	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense	GRAMD1C	NM_001172105.1,NM_017577.4	29,29	1,88,6411	AA,AG,GG		0.0349,1.9764,0.6923	benign,benign	350/458,555/663	113656962	90,12910	2201	4299	6500	115139652	SO:0001583	missense	54762	exon10				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1663G>A	3.37:g.113656962G>A	ENSP00000350881:p.Val555Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115139652	NM_001172105	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	CCDS33826.1	20	0.009157509157509158	19	0.03861788617886179	0	0.0	0	0.0	1	0.0013192612137203166	g	4.920	0.170990	0.09391	0.019764	3.49E-4	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T	0.42513	1.62;0.97;1.01;1.0	5.72	0.525	0.17072	.	0.817937	0.11288	N	0.579589	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12889	-1.0530	10	0.36615	T	0.2	.	8.2481	0.31702	0.7792:0.0:0.1157:0.1051	.	388;555	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	I	555;284;388;350;350	ENSP00000350881:V555I;ENSP00000399844:V284I;ENSP00000419132:V388I;ENSP00000408135:V350I	ENSP00000350881:V555I	V	+	1	0	GRAMD1C	115139652	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.573000	0.23699	-0.389000	0.07786	-3.021000	0.00074	GTC		0.289	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
KIAA1407	57577	broad.mit.edu	37	3	113753983	113753983	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113753983G>A	ENST00000295878.3	-	6	753	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R34C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	203								p.R203C(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CGTCTTAAGCGATTTTCTTTT	0.373																																					p.R203C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607T	3						.						71.0	73.0	72.0					3																	113753983		2203	4300	6503	115236673	SO:0001583	missense	57577	exon6			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.607C>T	3.37:g.113753983G>A	ENSP00000295878:p.Arg203Cys	Somatic		Capture	Illumina HiSeq	Phase_I	115236673	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981146	0.74474	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.64618	0.3;-0.11;-0.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79210	-0.1897	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.0:0.85:0.15	.	190;79;203	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	C	203;34;190;167	ENSP00000295878:R203C;ENSP00000446381:R34C;ENSP00000418099:R190C	ENSP00000295878:R203C	R	-	1	0	KIAA1407	115236673	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.891000	0.56227	2.784000	0.95788	0.585000	0.79938	CGC		0.373	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
DRD3	1814	broad.mit.edu	37	3	113866391	113866391	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113866391C>T	ENST00000460779.1	-	5	686	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	DRD3_ENST00000295881.7_Missense_Mutation_p.V133I|DRD3_ENST00000467632.1_Missense_Mutation_p.V133I|DRD3_ENST00000383673.2_Missense_Mutation_p.V133I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	133					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.V133I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGGGCATGACCACTGCAGTG	0.547																																					p.V133I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	3						.						90.0	78.0	82.0					3																	113866391		2203	4300	6503	115349081	SO:0001583	missense	1814	exon4				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.397G>A	3.37:g.113866391C>T	ENSP00000419402:p.Val133Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115349081	NM_000796	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744854	0.89663	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.60012	1.86	0.58432	D	0.999999	P;P;P;B	0.50943	0.88;0.88;0.94;0.28	P;P;P;B	0.52793	0.638;0.638;0.709;0.237	T	0.56950	-0.7894	10	0.72032	D	0.01	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	133;133;133;133	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	133	ENSP00000419402:V133I;ENSP00000420662:V133I;ENSP00000373169:V133I;ENSP00000295881:V133I	ENSP00000281274:V133I	V	-	1	0	DRD3	115349081	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	GTC		0.547	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	
TIGIT	201633	broad.mit.edu	37	3	114014692	114014692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:114014692G>T	ENST00000486257.1	+	3	619	c.362G>T	c.(361-363)aGa>aTa	p.R121I	TIGIT_ENST00000481065.1_Missense_Mutation_p.R188I|TIGIT_ENST00000383671.3_Missense_Mutation_p.R121I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	121	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R121I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TACACTGGGAGAATCTTCCTG	0.532																																					p.R121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362T	3						.						74.0	72.0	73.0					3																	114014692		2203	4300	6503	115497382	SO:0001583	missense	201633	exon2			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.362G>T	3.37:g.114014692G>T	ENSP00000419085:p.Arg121Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115497382	NM_173799	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955479	0.18507	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.86	-4.12	0.03916	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.993211	0.08179	N	0.985732	T	0.22166	0.0534	L	0.33485	1.01	0.09310	N	0.999994	P	0.41569	0.755	B	0.35770	0.21	T	0.13202	-1.0518	10	0.34782	T	0.22	0.0413	2.2581	0.04060	0.3125:0.3761:0.1997:0.1117	.	121	Q495A1	TIGIT_HUMAN	I	100;188;121;121;100	ENSP00000418917:R100I;ENSP00000420552:R188I;ENSP00000419085:R121I;ENSP00000373167:R121I;ENSP00000419706:R100I	ENSP00000373167:R121I	R	+	2	0	TIGIT	115497382	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-0.553000	0.06012	-0.749000	0.04747	0.561000	0.74099	AGA		0.532	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799	
LSAMP	4045	broad.mit.edu	37	3	115805177	115805177	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:115805177C>T	ENST00000490035.2	-	2	881	c.382G>A	c.(382-384)Gta>Ata	p.V128I	LSAMP_ENST00000539563.1_Missense_Mutation_p.V125I	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	128					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V128I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TTACCTTGTACGATCAAGTAA	0.443																																					p.V128I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	3						.						77.0	70.0	73.0					3																	115805177		2203	4300	6503	117287867	SO:0001583	missense	4045	exon2			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.382G>A	3.37:g.115805177C>T	ENSP00000419000:p.Val128Ile	Somatic		Capture	Illumina HiSeq	Phase_I	117287867	NM_002338	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955670	0.92726	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.89478	3.035	0.80722	D	1	D;D	0.60575	0.966;0.988	P;P	0.58130	0.483;0.833	T	0.82210	-0.0570	10	0.87932	D	0	-9.3011	20.0925	0.97824	0.0:1.0:0.0:0.0	.	128;128	B2RCU8;Q13449	.;LSAMP_HUMAN	I	112;128;125;162	ENSP00000328455:V112I;ENSP00000419000:V128I;ENSP00000443429:V125I;ENSP00000418506:V162I	ENSP00000328455:V112I	V	-	1	0	LSAMP	117287867	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	7.788000	0.85771	2.751000	0.94390	0.555000	0.69702	GTA		0.443	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	
TAMM41	132001	broad.mit.edu	37	3	11885566	11885566	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:11885566C>T	ENST00000444133.2	-	2	397	c.255G>A	c.(253-255)acG>acA	p.T85T	TAMM41_ENST00000455809.1_Silent_p.T85T|TAMM41_ENST00000273037.5_Silent_p.T85T			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	85					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.T85T(1)									TCTGGATGGACGTGATAATCT	0.423																																					p.T85T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	3						.						106.0	100.0	102.0					3																	11885566		2203	4300	6503	11860566	SO:0001819	synonymous_variant	132001	exon2				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.255G>A	3.37:g.11885566C>T		Somatic		Capture	Illumina HiSeq	Phase_I	11860566	NM_138807	B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37																																																																																					0.423	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807	
LSAMP	4045	broad.mit.edu	37	3	115805269	115805269	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:115805269C>T	ENST00000490035.2	-	2	789	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	LSAMP_ENST00000539563.1_Missense_Mutation_p.R94Q	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	97	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R97Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCTGGATTCGGAGGCTGTA	0.498																																					p.R97Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	3						.						109.0	99.0	103.0					3																	115805269		2203	4300	6503	117287959	SO:0001583	missense	4045	exon2			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.290G>A	3.37:g.115805269C>T	ENSP00000419000:p.Arg97Gln	Somatic		Capture	Illumina HiSeq	Phase_I	117287959	NM_002338	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474024	0.43942	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	N	0.04275	-0.24	0.54753	D	0.999988	D;P	0.71674	0.998;0.6	D;B	0.79108	0.992;0.058	T	0.11743	-1.0575	10	0.06099	T	0.92	-5.8296	13.3145	0.60399	0.0:0.9279:0.0:0.0721	.	97;97	B2RCU8;Q13449	.;LSAMP_HUMAN	Q	81;97;94;131	ENSP00000328455:R81Q;ENSP00000419000:R97Q;ENSP00000443429:R94Q;ENSP00000418506:R131Q	ENSP00000328455:R81Q	R	-	2	0	LSAMP	117287959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	2.751000	0.94390	0.555000	0.69702	CGA		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	
UPK1B	7348	broad.mit.edu	37	3	118922773	118922773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:118922773C>T	ENST00000264234.3	+	8	891	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	UPK1B_ENST00000497685.1_Missense_Mutation_p.L168F|UPK1B_ENST00000460625.1_Missense_Mutation_p.L240F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	248					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.L248F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GTTTTGGGTTCTCCTGGGTAC	0.403																																					p.L248F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	3						.						181.0	178.0	179.0					3																	118922773		2203	4300	6503	120405463	SO:0001583	missense	7348	exon8			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.742C>T	3.37:g.118922773C>T	ENSP00000264234:p.Leu248Phe	Somatic		Capture	Illumina HiSeq	Phase_I	120405463	NM_006952	O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144862	0.77888	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	T;T;T	0.79141	-1.24;-1.24;-1.24	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	D	0.84678	0.5525	L	0.47716	1.5	0.51482	D	0.999921	D;D	0.76494	0.999;0.999	D;D	0.87578	0.972;0.998	D	0.85583	0.1241	10	0.72032	D	0.01	-34.805	16.42	0.83755	0.0:1.0:0.0:0.0	.	240;248	C9J9M7;O75841	.;UPK1B_HUMAN	F	168;248;240	ENSP00000418972:L168F;ENSP00000264234:L248F;ENSP00000418116:L240F	ENSP00000264234:L248F	L	+	1	0	UPK1B	120405463	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.285000	0.51716	2.735000	0.93741	0.563000	0.77884	CTC		0.403	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2		
ARHGAP31	57514	broad.mit.edu	37	3	119132770	119132770	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119132770C>A	ENST00000264245.4	+	12	2526	c.1994C>A	c.(1993-1995)tCt>tAt	p.S665Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	665					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.S665Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATCATTGAATCTGAGGAGGAG	0.478																																					p.S665Y	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1994A	3						.						125.0	125.0	125.0					3																	119132770		1958	4151	6109	120615460	SO:0001583	missense	57514	exon12				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1994C>A	3.37:g.119132770C>A	ENSP00000264245:p.Ser665Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120615460	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562359	0.86335	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.09538	2.97	5.26	5.26	0.73747	.	0.108125	0.42053	D	0.000762	T	0.31358	0.0794	M	0.62723	1.935	0.46631	D	0.999133	D	0.89917	1.0	D	0.68192	0.956	T	0.00827	-1.1550	10	0.87932	D	0	.	18.043	0.89324	0.0:1.0:0.0:0.0	.	665	Q2M1Z3	RHG31_HUMAN	Y	665	ENSP00000264245:S665Y	ENSP00000264245:S665Y	S	+	2	0	ARHGAP31	120615460	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	5.962000	0.70364	2.746000	0.94184	0.655000	0.94253	TCT		0.478	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
TMEM39A	55254	broad.mit.edu	37	3	119180873	119180873	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119180873C>T	ENST00000319172.5	-	2	469	c.49G>A	c.(49-51)Gct>Act	p.A17T	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	17						integral component of membrane (GO:0016021)		p.A17T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GAAGGTAAAGCTGAACGGCTT	0.478																																					p.A17T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49A	3						.						94.0	85.0	88.0					3																	119180873		2203	4300	6503	120663563	SO:0001583	missense	55254	exon2			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.49G>A	3.37:g.119180873C>T	ENSP00000326063:p.Ala17Thr	Somatic		Capture	Illumina HiSeq	Phase_I	120663563	NM_018266	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951225	0.92660	.	.	ENSG00000176142	ENST00000319172;ENST00000491685;ENST00000468676;ENST00000497993;ENST00000461654	T	0.48522	0.81	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	N	0.16478	0.41	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.33777	-0.9855	10	0.11794	T	0.64	-10.0424	18.1318	0.89604	0.0:1.0:0.0:0.0	.	17	Q9NV64	TM39A_HUMAN	T	17	ENSP00000326063:A17T	ENSP00000326063:A17T	A	-	1	0	TMEM39A	120663563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.832000	0.97577	0.655000	0.94253	GCT		0.478	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266	
MAATS1	89876	broad.mit.edu	37	3	119458111	119458111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119458111G>T	ENST00000273390.5	+	12	1548	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	327						mitochondrion (GO:0005739)		p.E491*(1)									GGAAGAAGAAGAAATGGAAAT	0.428																																					p.E491X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1471T	3						.						151.0	160.0	157.0					3																	119458111		2203	4300	6503	120940801	SO:0001587	stop_gained	89876	exon12			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1471G>T	3.37:g.119458111G>T	ENSP00000273390:p.Glu491*	Somatic		Capture	Illumina HiSeq	Phase_I	120940801	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Nonsense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	37	6.467637	0.97590	.	.	ENSG00000183833	ENST00000273390	.	.	.	5.3	5.3	0.74995	.	0.298815	0.40222	N	0.001141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-15.3723	19.1481	0.93476	0.0:0.0:1.0:0.0	.	.	.	.	X	491	.	ENSP00000273390:E491X	E	+	1	0	C3orf15	120940801	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.433000	0.73404	2.762000	0.94881	0.591000	0.81541	GAA		0.428	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
MAATS1	89876	broad.mit.edu	37	3	119463028	119463028	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119463028C>T	ENST00000273390.5	+	14	1964	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	465						mitochondrion (GO:0005739)		p.D629D(1)									GGGAGGAGGACGAGATATTTA	0.557																																					p.D629D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1887T	3						.						44.0	45.0	44.0					3																	119463028		2203	4300	6503	120945718	SO:0001819	synonymous_variant	89876	exon14			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1887C>T	3.37:g.119463028C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120945718	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	CCDS2994.1																																																																																				0.557	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
GSK3B	2932	broad.mit.edu	37	3	119595268	119595268	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119595268A>G	ENST00000264235.8	-	8	1883	c.901T>C	c.(901-903)Tgg>Cgg	p.W301R	GSK3B_ENST00000316626.5_Missense_Mutation_p.W301R|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.W301R(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCTTAGTCCAAGGATGTGCC	0.343																																					p.W301R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T901C	3						.						148.0	138.0	141.0					3																	119595268		2203	4300	6503	121077958	SO:0001583	missense	2932	exon8			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.901T>C	3.37:g.119595268A>G	ENSP00000264235:p.Trp301Arg	Somatic		Capture	Illumina HiSeq	Phase_I	121077958	NM_002093	D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746251	0.69418	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.40225	1.04;1.04	4.62	4.62	0.57501	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	0.53367	0.1792	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.57952	-0.7722	10	0.87932	D	0	-6.201	14.4753	0.67541	1.0:0.0:0.0:0.0	.	301;301	P49841;P49841-2	GSK3B_HUMAN;.	R	301;301;18	ENSP00000264235:W301R;ENSP00000324806:W301R	ENSP00000264235:W301R	W	-	1	0	GSK3B	121077958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.647000	0.91057	2.071000	0.62044	0.528000	0.53228	TGG		0.343	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
GSK3B	2932	broad.mit.edu	37	3	119721075	119721075	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119721075C>T	ENST00000264235.8	-	2	1082	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	GSK3B_ENST00000316626.5_Missense_Mutation_p.G34S	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	34					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.G34S(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCTTGCTGCCGTCCTTGTCT	0.408																																					p.G34S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G100A	3						.						141.0	140.0	140.0					3																	119721075		2203	4300	6503	121203765	SO:0001583	missense	2932	exon2			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.100G>A	3.37:g.119721075C>T	ENSP00000264235:p.Gly34Ser	Somatic		Capture	Illumina HiSeq	Phase_I	121203765	NM_002093	D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670799	0.67814	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59364	0.27;0.32	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	L	0.49513	1.565	0.80722	D	1	B;B	0.20052	0.024;0.041	B;B	0.12156	0.003;0.007	T	0.49370	-0.8947	10	0.40728	T	0.16	-10.2627	19.5947	0.95530	0.0:1.0:0.0:0.0	.	34;34	P49841;P49841-2	GSK3B_HUMAN;.	S	34	ENSP00000264235:G34S;ENSP00000324806:G34S	ENSP00000264235:G34S	G	-	1	0	GSK3B	121203765	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.728000	0.68531	2.937000	0.99478	0.650000	0.86243	GGC		0.408	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
GPR156	165829	broad.mit.edu	37	3	119886034	119886034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119886034C>A	ENST00000464295.1	-	10	2735	c.2290G>T	c.(2290-2292)Gaa>Taa	p.E764*	GPR156_ENST00000461057.1_Nonsense_Mutation_p.E760*|GPR156_ENST00000315843.3_Nonsense_Mutation_p.E764*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	764						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.E764*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAGCAGATTTCACAGTAGGGC	0.562																																					p.E760X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2278T	3						.						105.0	119.0	114.0					3																	119886034		2203	4300	6503	121368724	SO:0001587	stop_gained	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2290G>T	3.37:g.119886034C>A	ENSP00000417261:p.Glu764*	Somatic		Capture	Illumina HiSeq	Phase_I	121368724	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Nonsense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	39	7.304496	0.98200	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	4.97	4.97	0.65823	.	0.329446	0.29093	N	0.013168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7741	15.0539	0.71897	0.0:0.8578:0.1422:0.0	.	.	.	.	X	764;764;760	.	.	E	-	1	0	GPR156	121368724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.633000	0.46519	2.758000	0.94735	0.561000	0.74099	GAA		0.562	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
GPR156	165829	broad.mit.edu	37	3	119887192	119887192	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119887192T>C	ENST00000464295.1	-	10	1577	c.1132A>G	c.(1132-1134)Aac>Gac	p.N378D	GPR156_ENST00000461057.1_Missense_Mutation_p.N374D|GPR156_ENST00000315843.3_Missense_Mutation_p.N378D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	378						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.N378D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTTTGGCGTTGTTTACTTGT	0.507																																					p.N374D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1120G	3						.						53.0	57.0	56.0					3																	119887192		2203	4297	6500	121369882	SO:0001583	missense	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1132A>G	3.37:g.119887192T>C	ENSP00000417261:p.Asn378Asp	Somatic		Capture	Illumina HiSeq	Phase_I	121369882	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678725	0.68042	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.27557	1.66;1.66;1.67	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.35008	0.0917	M	0.70275	2.135	0.52099	D	0.999946	P;P	0.47191	0.891;0.891	B;B	0.40199	0.322;0.322	T	0.23797	-1.0178	9	.	.	.	-22.416	15.0391	0.71774	0.0:0.0:0.0:1.0	.	374;378	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	378;378;374	ENSP00000417261:N378D;ENSP00000324553:N378D;ENSP00000418758:N374D	.	N	-	1	0	GPR156	121369882	1.000000	0.71417	0.974000	0.42286	0.873000	0.50193	7.076000	0.76806	2.333000	0.79357	0.482000	0.46254	AAC		0.507	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
GPR156	165829	broad.mit.edu	37	3	119962555	119962555	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119962555A>C	ENST00000464295.1	-	3	610	c.165T>G	c.(163-165)acT>acG	p.T55T	GPR156_ENST00000461057.1_Silent_p.T55T|GPR156_ENST00000315843.3_Silent_p.T55T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.T55T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCTGAGAAAAGTCCAAACAA	0.443																																					p.T55T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T165G	3						.						131.0	118.0	122.0					3																	119962555		2203	4300	6503	121445245	SO:0001819	synonymous_variant	165829	exon2			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.165T>G	3.37:g.119962555A>C		Somatic		Capture	Illumina HiSeq	Phase_I	121445245	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	CCDS2997.1																																																																																				0.443	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
SYN2	6854	broad.mit.edu	37	3	12187197	12187197	+	RNA	SNP	C	C	T	rs553201989		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12187197C>T	ENST00000432424.2	+	0	718							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.F113F(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GGCCAGACTTCGTGCTCATCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22377	0.0		0.0	False		,,,				2504	0.0				p.F181F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	3						.						61.0	60.0	60.0					3																	12187197		2020	4198	6218	12162197			6854	exon5				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12187197C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12162197	NM_133625	A8MY98	Silent	SNP	ENST00000432424.2	37																																																																																					0.527	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625	
SYN2	6854	broad.mit.edu	37	3	12224872	12224872	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12224872G>A	ENST00000432424.2	+	0	1541							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.G388R(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACCCCCTCAAGGTTGTTTACA	0.423																																					p.G456R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1366A	3						.						52.0	54.0	53.0					3																	12224872		1851	4098	5949	12199872			6854	exon12				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12224872G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12199872	NM_133625	A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37		.	.	.	.	.	.	.	.	.	.	G	15.35	2.807271	0.50421	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.94	4.94	0.65067	.	0.000000	0.43919	D	0.000515	T	0.79233	0.4411	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81844	-0.0746	9	0.87932	D	0	-10.5127	18.5484	0.91055	0.0:0.0:1.0:0.0	.	457	Q92777	SYN2_HUMAN	R	389	.	ENSP00000442512:G389R	G	+	1	0	SYN2	12199872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.244000	0.95423	2.447000	0.82792	0.655000	0.94253	GGG		0.423	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625	
FSTL1	11167	broad.mit.edu	37	3	120130701	120130701	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:120130701C>A	ENST00000295633.3	-	4	654	c.298G>T	c.(298-300)Gag>Tag	p.E100*	FSTL1_ENST00000424703.2_Splice_Site_p.E65*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	100	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E100*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CACACCTTACCTTTGCAGTGT	0.542																																					p.E100X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G298T	3						.						207.0	168.0	182.0					3																	120130701		2203	4300	6503	121613391	SO:0001630	splice_region_variant	11167	exon4			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.298+1G>T	3.37:g.120130701C>A		Somatic		Capture	Illumina HiSeq	Phase_I	121613391	NM_007085	A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP	ENST00000295633.3	37	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	36	5.887407	0.97068	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2809	17.7699	0.88489	0.0:1.0:0.0:0.0	.	.	.	.	X	100;43;65;100	.	.	E	-	1	0	FSTL1	121613391	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.052000	0.76634	2.442000	0.82660	0.555000	0.69702	GAG		0.542	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085	Nonsense_Mutation
STXBP5L	9515	broad.mit.edu	37	3	120876375	120876375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:120876375C>A	ENST00000273666.6	+	9	1049	c.778C>A	c.(778-780)Cat>Aat	p.H260N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.H260N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.H260N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.H260N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.H260N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	260					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H260N(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGATTGGCATCATGAGGGCAA	0.373																																					p.H260N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778A	3						.						105.0	93.0	97.0					3																	120876375		1848	4104	5952	122359065	SO:0001583	missense	9515	exon9			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.778C>A	3.37:g.120876375C>A	ENSP00000273666:p.His260Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122359065	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235894	0.58886	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.53423	0.62;1.63;0.62;0.62;1.63;1.63	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.85373	2.75	0.58432	D	0.999999	B;B	0.14805	0.011;0.011	B;B	0.18561	0.022;0.022	T	0.50566	-0.8813	10	0.29301	T	0.29	-0.2234	14.0364	0.64646	0.1517:0.8483:0.0:0.0	.	260;260	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	260	ENSP00000273666:H260N;ENSP00000420019:H260N;ENSP00000419627:H260N;ENSP00000420287:H260N;ENSP00000420666:H260N;ENSP00000420167:H260N	ENSP00000273666:H260N	H	+	1	0	STXBP5L	122359065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	2.729000	0.93468	0.558000	0.71614	CAT		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
POLQ	10721	broad.mit.edu	37	3	121209199	121209199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121209199C>T	ENST00000264233.5	-	16	2707	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	860					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R995Q(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCAGATAGTTCGCATATTGCG	0.458								DNA polymerases (catalytic subunits)																													p.R860Q	Pancreas(152;907 1925 26081 31236 36904)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2579A	3						.						170.0	150.0	157.0					3																	121209199		2203	4300	6503	122691889	SO:0001583	missense	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2579G>A	3.37:g.121209199C>T	ENSP00000264233:p.Arg860Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122691889	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424279	0.62733	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.47	2.69	0.31865	.	0.250174	0.40908	N	0.000990	T	0.52693	0.1750	M	0.86178	2.8	0.46774	D	0.999199	B;B	0.28636	0.218;0.196	B;B	0.18871	0.023;0.017	T	0.56780	-0.7922	10	0.72032	D	0.01	.	9.8985	0.41334	0.0:0.7218:0.0:0.2782	.	860;32	O75417;O75417-2	DPOLQ_HUMAN;.	Q	483;860;996	ENSP00000264233:R860Q	ENSP00000264233:R860Q	R	-	2	0	POLQ	122691889	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.478000	0.35442	0.684000	0.31448	0.557000	0.71058	CGA		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
ARGFX	503582	broad.mit.edu	37	3	121305090	121305090	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121305090G>T	ENST00000334384.3	+	4	601	c.591G>T	c.(589-591)gaG>gaT	p.E197D		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E197D(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCTTCACTGAGAGTTCTACCA	0.468																																					p.E197D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G591T	3						.						149.0	146.0	147.0					3																	121305090		2203	4300	6503	122787780	SO:0001583	missense	503582	exon5				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.591G>T	3.37:g.121305090G>T	ENSP00000335578:p.Glu197Asp	Somatic		Capture	Illumina HiSeq	Phase_I	122787780	NM_001012659		Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419427	0.25552	.	.	ENSG00000186103	ENST00000334384	D	0.88741	-2.42	3.42	1.45	0.22620	.	1.330220	0.05398	N	0.540246	T	0.81903	0.4921	L	0.27053	0.805	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.66536	-0.5899	10	0.35671	T	0.21	0.0903	7.892	0.29684	0.0:0.0:0.5532:0.4468	.	197	A6NJG6	ARGFX_HUMAN	D	197	ENSP00000335578:E197D	ENSP00000335578:E197D	E	+	3	2	ARGFX	122787780	0.003000	0.15002	0.001000	0.08648	0.221000	0.24807	1.193000	0.32162	0.374000	0.24650	0.561000	0.74099	GAG		0.468	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659	
FBXO40	51725	broad.mit.edu	37	3	121341452	121341452	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121341452A>C	ENST00000338040.4	+	3	1590	c.1176A>C	c.(1174-1176)aaA>aaC	p.K392N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	392					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K392N(1)		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)		ACCTGCCCAAATCAGATCTCA	0.483																																					p.K392N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1176C	3						.						119.0	111.0	114.0					3																	121341452		2203	4300	6503	122824142	SO:0001583	missense	51725	exon3			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.1176A>C	3.37:g.121341452A>C	ENSP00000337510:p.Lys392Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122824142	NM_016298	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869807	0.33069	.	.	ENSG00000163833	ENST00000338040	T	0.47177	0.85	5.73	2.15	0.27550	.	0.150547	0.64402	D	0.000020	T	0.54886	0.1886	L	0.56769	1.78	0.38519	D	0.948687	D	0.67145	0.996	P	0.62298	0.9	T	0.53099	-0.8486	10	0.32370	T	0.25	-22.6755	7.843	0.29410	0.7575:0.0:0.2425:0.0	.	392	Q9UH90	FBX40_HUMAN	N	392	ENSP00000337510:K392N	ENSP00000337510:K392N	K	+	3	2	FBXO40	122824142	0.987000	0.35691	0.998000	0.56505	0.987000	0.75469	1.150000	0.31639	0.464000	0.27142	-0.250000	0.11733	AAA		0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
HCLS1	3059	broad.mit.edu	37	3	121376175	121376175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121376175G>A	ENST00000314583.3	-	3	200	c.109C>T	c.(109-111)Cga>Tga	p.R37*	HCLS1_ENST00000428394.2_Nonsense_Mutation_p.R37*|RNU4-62P_ENST00000410125.1_RNA	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	37	Involved in HAX-1 binding.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.R37*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTCCCCATCGTTGCTCCTTT	0.517																																					p.R37X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C109T	3						.						221.0	190.0	201.0					3																	121376175		2203	4300	6503	122858865	SO:0001587	stop_gained	3059	exon3				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.109C>T	3.37:g.121376175G>A	ENSP00000320176:p.Arg37*	Somatic		Capture	Illumina HiSeq	Phase_I	122858865	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Nonsense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636148	0.87760	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5621	16.1002	0.81166	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000320176:R37X	R	-	1	2	HCLS1	122858865	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.809000	0.38922	2.661000	0.90470	0.655000	0.94253	CGA		0.517	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	broad.mit.edu	37	3	121409666	121409666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121409666C>A	ENST00000340645.5	-	14	8655	c.8530G>T	c.(8530-8532)Gag>Tag	p.E2844*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2849*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2844					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2844*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATCTCTCTCATTCTGCAGA	0.478																																					p.E2844X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8530T	3						.						69.0	66.0	67.0					3																	121409666		2203	4300	6503	122892356	SO:0001587	stop_gained	2804	exon14			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8530G>T	3.37:g.121409666C>A	ENSP00000341848:p.Glu2844*	Somatic		Capture	Illumina HiSeq	Phase_I	122892356	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	49	15.512334	0.99836	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.4994	0.84253	0.0:1.0:0.0:0.0	.	.	.	.	X	2844;2849	.	ENSP00000341848:E2844X	E	-	1	0	GOLGB1	122892356	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.355000	0.59424	2.756000	0.94617	0.655000	0.94253	GAG		0.478	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
IQCB1	9657	broad.mit.edu	37	3	121544988	121544988	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121544988C>A	ENST00000310864.6	-	5	517	c.303G>T	c.(301-303)gaG>gaT	p.E101D	IQCB1_ENST00000349820.6_Missense_Mutation_p.E101D	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	101					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.E101D(2)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGTAAAATTCCTCTGCATCTT	0.378																																					p.E101D												.	.	2	Substitution - Missense(2)	large_intestine(1)|biliary_tract(1)	c.G303T	3						.						68.0	65.0	66.0					3																	121544988		2203	4300	6503	123027678	SO:0001583	missense	9657	exon5			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.303G>T	3.37:g.121544988C>A	ENSP00000311505:p.Glu101Asp	Somatic		Capture	Illumina HiSeq	Phase_I	123027678	NM_001023571	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516868	0.64634	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.11277	2.79;2.79	5.21	-0.357	0.12579	.	0.045170	0.85682	D	0.000000	T	0.16727	0.0402	L	0.34521	1.04	0.21782	N	0.999542	P;D	0.61697	0.956;0.99	D;D	0.73380	0.931;0.98	T	0.04307	-1.0961	10	0.66056	D	0.02	-15.7332	7.8606	0.29507	0.0:0.4379:0.0:0.5621	.	101;101	Q15051;Q15051-2	IQCB1_HUMAN;.	D	101	ENSP00000311505:E101D;ENSP00000323756:E101D	ENSP00000311505:E101D	E	-	3	2	IQCB1	123027678	0.979000	0.34478	0.998000	0.56505	0.910000	0.53928	-0.085000	0.11250	0.022000	0.15160	0.557000	0.71058	GAG		0.378	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
EAF2	55840	broad.mit.edu	37	3	121575996	121575996	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121575996C>T	ENST00000273668.2	+	4	548	c.477C>T	c.(475-477)atC>atT	p.I159I	EAF2_ENST00000451944.2_Silent_p.I159I	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	159					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.I159I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TAGATGATATCGAAAGAGGTA	0.393																																					p.I159I	Esophageal Squamous(194;1942 2097 24663 29345 31866)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	3						.						84.0	80.0	81.0					3																	121575996		2203	4300	6503	123058686	SO:0001819	synonymous_variant	55840	exon4			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.477C>T	3.37:g.121575996C>T		Somatic		Capture	Illumina HiSeq	Phase_I	123058686	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																				0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	
ILDR1	286676	broad.mit.edu	37	3	121712436	121712436	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121712436G>T	ENST00000344209.5	-	7	1286	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	ILDR1_ENST00000273691.3_Missense_Mutation_p.S343Y|ILDR1_ENST00000393631.1_Missense_Mutation_p.S298Y|ILDR1_ENST00000462014.1_Missense_Mutation_p.S355Y|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	387					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.S343Y(1)|p.S387Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAATGCCCAAGACTTTGGCCC	0.592																																					p.S387Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1160A	3						.						74.0	71.0	72.0					3																	121712436		2203	4300	6503	123195126	SO:0001583	missense	286676	exon7			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1160C>A	3.37:g.121712436G>T	ENSP00000345667:p.Ser387Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123195126	NM_001199799	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	1.468	-0.560488	0.03939	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.78364	-0.59;-0.58;-1.17;-0.18	5.59	-0.407	0.12385	.	1.276770	0.04962	N	0.462174	T	0.59985	0.2234	L	0.36672	1.1	0.09310	N	0.999997	P;B;B;P	0.43352	0.804;0.028;0.432;0.73	B;B;B;B	0.39068	0.289;0.014;0.178;0.178	T	0.50180	-0.8858	10	0.02654	T	1	-1.9774	2.0364	0.03541	0.4213:0.1579:0.3081:0.1127	.	298;387;343;355	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	Y	343;387;298;355	ENSP00000273691:S343Y;ENSP00000345667:S387Y;ENSP00000377251:S298Y;ENSP00000419414:S355Y	ENSP00000273691:S343Y	S	-	2	0	ILDR1	123195126	0.000000	0.05858	0.313000	0.25210	0.150000	0.21749	0.131000	0.15870	-0.135000	0.11495	0.650000	0.86243	TCT		0.592	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
ILDR1	286676	broad.mit.edu	37	3	121724115	121724115	+	Nonsense_Mutation	SNP	G	G	A	rs374286775		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121724115G>A	ENST00000344209.5	-	3	481	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	ILDR1_ENST00000273691.3_Nonsense_Mutation_p.Q119*|ILDR1_ENST00000393631.1_Nonsense_Mutation_p.Q119*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.Q131*|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	119	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.Q119*(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATCTTGCGCTGCCGGTAATCT	0.647																																					p.Q119X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C355T	3						.						37.0	35.0	36.0					3																	121724115		2203	4300	6503	123206805	SO:0001587	stop_gained	286676	exon3			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.355C>T	3.37:g.121724115G>A	ENSP00000345667:p.Gln119*	Somatic		Capture	Illumina HiSeq	Phase_I	123206805	NM_001199799	Q6ZP61|Q7Z578	Nonsense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560001	0.96514	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	.	.	.	5.63	5.63	0.86233	.	0.151472	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-23.1404	17.5361	0.87832	0.0:0.0:1.0:0.0	.	.	.	.	X	119;119;119;131	.	ENSP00000273691:Q119X	Q	-	1	0	ILDR1	123206805	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.534000	0.60622	2.802000	0.96397	0.563000	0.77884	CAG		0.647	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
CASR	846	broad.mit.edu	37	3	122002808	122002808	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122002808C>T	ENST00000490131.1	+	7	2379	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.I669I|CASR_ENST00000498619.1_Silent_p.I679I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	669					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.I669I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTTCTTCATCGGGGAGCCCC	0.602																																					p.I669I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2007T	3						.						110.0	85.0	94.0					3																	122002808		2203	4300	6503	123485498	SO:0001819	synonymous_variant	846	exon7			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2007C>T	3.37:g.122002808C>T		Somatic		Capture	Illumina HiSeq	Phase_I	123485498	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																				0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
CASR	846	broad.mit.edu	37	3	122003582	122003582	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122003582C>T	ENST00000490131.1	+	7	3153	c.2781C>T	c.(2779-2781)ccC>ccT	p.P927P	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.P927P|CASR_ENST00000498619.1_Silent_p.P937P	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	927					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.P927P(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCCACAGCCCGAGAGGCAGA	0.647																																					p.P927P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2781T	3						.						41.0	44.0	43.0					3																	122003582		2203	4300	6503	123486272	SO:0001819	synonymous_variant	846	exon7			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2781C>T	3.37:g.122003582C>T		Somatic		Capture	Illumina HiSeq	Phase_I	123486272	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																				0.647	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
WDR5B	54554	broad.mit.edu	37	3	122133685	122133685	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122133685C>T	ENST00000330689.4	-	1	1197	c.691G>A	c.(691-693)Gac>Aac	p.D231N	RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	231								p.D231N(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		AGAGTGTTGTCCAAAGTTGCA	0.368																																					p.D231N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	3						.						101.0	108.0	105.0					3																	122133685		2203	4300	6503	123616375	SO:0001583	missense	54554	exon1			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.691G>A	3.37:g.122133685C>T	ENSP00000330381:p.Asp231Asn	Somatic		Capture	Illumina HiSeq	Phase_I	123616375	NM_019069	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181451	0.38511	.	.	ENSG00000196981	ENST00000330689	D	0.88975	-2.45	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.092240	0.85682	D	0.000000	D	0.88706	0.6509	M	0.72576	2.205	0.58432	D	0.999999	B	0.20164	0.042	B	0.23419	0.046	D	0.86991	0.2110	10	0.72032	D	0.01	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	231	Q86VZ2	WDR5B_HUMAN	N	231	ENSP00000330381:D231N	ENSP00000330381:D231N	D	-	1	0	WDR5B	123616375	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.561000	0.45905	2.644000	0.89710	0.561000	0.74099	GAC		0.368	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069	
PARP9	83666	broad.mit.edu	37	3	122269466	122269466	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122269466A>C	ENST00000360356.2	-	6	1623	c.1396T>G	c.(1396-1398)Ttt>Gtt	p.F466V	PARP9_ENST00000477522.2_Missense_Mutation_p.F431V|PARP9_ENST00000462315.1_Missense_Mutation_p.F431V|PARP9_ENST00000471785.1_Missense_Mutation_p.F431V|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	466	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F466V(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGATCACAAATTTTACAGTT	0.318																																					p.F431V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1291G	3						.						79.0	79.0	79.0					3																	122269466		2203	4300	6503	123752156	SO:0001583	missense	83666	exon6			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1396T>G	3.37:g.122269466A>C	ENSP00000353512:p.Phe466Val	Somatic		Capture	Illumina HiSeq	Phase_I	123752156	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127178	0.37533	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	4.26	3.05	0.35203	Appr-1-p processing (1);	0.114953	0.39985	N	0.001201	T	0.27731	0.0682	L	0.44542	1.39	0.50039	D	0.999841	P;D;D	0.61697	0.921;0.99;0.982	B;P;P	0.51193	0.346;0.655;0.662	T	0.01516	-1.1335	10	0.37606	T	0.19	.	8.9125	0.35561	0.827:0.0:0.0:0.173	.	431;466;431	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	V	466;431;431;389;431	ENSP00000353512:F466V;ENSP00000419506:F431V;ENSP00000419001:F431V;ENSP00000418894:F431V	ENSP00000353512:F466V	F	-	1	0	PARP9	123752156	1.000000	0.71417	0.767000	0.31495	0.062000	0.15995	4.580000	0.60942	0.753000	0.32945	0.533000	0.62120	TTT		0.318	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
PARP9	83666	broad.mit.edu	37	3	122271289	122271289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122271289C>A	ENST00000360356.2	-	5	1415	c.1188G>T	c.(1186-1188)tgG>tgT	p.W396C	PARP9_ENST00000477522.2_Missense_Mutation_p.W361C|PARP9_ENST00000462315.1_Missense_Mutation_p.W361C|PARP9_ENST00000471785.1_Missense_Mutation_p.W361C|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	396	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.W396C(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATTCTGAATGCCACAGTACAT	0.328																																					p.W361C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1083T	3						.						71.0	72.0	72.0					3																	122271289		2203	4300	6503	123753979	SO:0001583	missense	83666	exon5			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1188G>T	3.37:g.122271289C>A	ENSP00000353512:p.Trp396Cys	Somatic		Capture	Illumina HiSeq	Phase_I	123753979	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437168	0.25900	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.3	4.3	0.51218	Appr-1-p processing (3);	0.000000	0.50627	D	0.000111	T	0.42562	0.1208	M	0.70595	2.14	0.80722	D	1	P;P;P	0.51537	0.51;0.946;0.725	B;P;B	0.57101	0.408;0.813;0.334	T	0.25984	-1.0116	10	0.44086	T	0.13	.	12.4755	0.55811	0.0:1.0:0.0:0.0	.	361;396;361	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	C	396;361;361;319;361	ENSP00000353512:W396C;ENSP00000419506:W361C;ENSP00000419001:W361C;ENSP00000418894:W361C	ENSP00000353512:W396C	W	-	3	0	PARP9	123753979	0.989000	0.36119	0.404000	0.26397	0.010000	0.07245	2.617000	0.46385	2.409000	0.81822	0.655000	0.94253	TGG		0.328	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
DTX3L	151636	broad.mit.edu	37	3	122287978	122287978	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122287978G>T	ENST00000296161.4	+	3	1231	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	348					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D348Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TGGGACCCAAGATGACATTTC	0.378																																					p.D348Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1042T	3						.						86.0	98.0	94.0					3																	122287978		2202	4300	6502	123770668	SO:0001583	missense	151636	exon3				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1042G>T	3.37:g.122287978G>T	ENSP00000296161:p.Asp348Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123770668	NM_138287	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827328	0.50739	.	.	ENSG00000163840	ENST00000296161	T	0.31247	1.5	5.65	2.86	0.33363	.	0.622177	0.15321	N	0.268553	T	0.33147	0.0853	L	0.57536	1.79	0.09310	N	0.999999	D	0.57899	0.981	P	0.48840	0.592	T	0.19614	-1.0300	10	0.72032	D	0.01	-7.1395	4.9103	0.13818	0.2186:0.0:0.6248:0.1566	.	348	Q8TDB6	DTX3L_HUMAN	Y	348	ENSP00000296161:D348Y	ENSP00000296161:D348Y	D	+	1	0	DTX3L	123770668	0.003000	0.15002	0.116000	0.21606	0.980000	0.70556	1.326000	0.33735	0.944000	0.37579	-0.140000	0.14226	GAT		0.378	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287	
PARP15	165631	broad.mit.edu	37	3	122353935	122353935	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122353935G>T	ENST00000464300.2	+	11	1707	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	PARP15_ENST00000483793.1_Missense_Mutation_p.K352N|PARP15_ENST00000493645.1_Missense_Mutation_p.K244N|PARP15_ENST00000310366.4_Missense_Mutation_p.K313N|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	547	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K313N(1)|p.K547N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGGATATCAAGAATGACCATA	0.408																																					p.K313N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G939T	3						.						76.0	71.0	73.0					3																	122353935		2203	4300	6503	123836625	SO:0001583	missense	165631	exon7			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1641G>T	3.37:g.122353935G>T	ENSP00000417214:p.Lys547Asn	Somatic		Capture	Illumina HiSeq	Phase_I	123836625	NM_152615	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917103	0.52546	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.17854	2.47;2.25;2.5;2.29	3.89	2.98	0.34508	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.42131	0.1189	M	0.86651	2.83	0.47994	D	0.999567	D;D;D;D;D	0.89917	0.98;0.999;0.999;0.999;1.0	D;D;P;D;D	0.80764	0.914;0.976;0.874;0.943;0.994	T	0.41088	-0.9528	9	0.62326	D	0.03	.	8.5908	0.33686	0.1837:0.0:0.8163:0.0	.	244;313;294;352;525	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	N	547;352;294;313;244	ENSP00000417214:K547N;ENSP00000417785:K352N;ENSP00000308436:K313N;ENSP00000419488:K244N	ENSP00000308436:K313N	K	+	3	2	PARP15	123836625	0.991000	0.36638	0.907000	0.35723	0.087000	0.18053	0.389000	0.20751	1.997000	0.58415	0.655000	0.94253	AAG		0.408	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615	
SEMA5B	54437	broad.mit.edu	37	3	122632717	122632717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122632717C>T	ENST00000357599.3	-	15	2506	c.2120G>A	c.(2119-2121)aGc>aAc	p.S707N	SEMA5B_ENST00000195173.4_Missense_Mutation_p.S707N|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S761N	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	707	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S707N(1)|p.S761N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTCCTCCCGGCTCTTGCCCAC	0.667																																					p.S707N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2120A	3						.						51.0	55.0	54.0					3																	122632717		2203	4300	6503	124115407	SO:0001583	missense	54437	exon15			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2120G>A	3.37:g.122632717C>T	ENSP00000350215:p.Ser707Asn	Somatic		Capture	Illumina HiSeq	Phase_I	124115407	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058766	0.36277	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.02	5.02	0.67125	.	0.085423	0.85682	D	0.000000	T	0.40398	0.1115	N	0.25332	0.735	0.49915	D	0.99983	B;B;B	0.23937	0.077;0.094;0.094	B;B;B	0.31016	0.075;0.123;0.123	T	0.22765	-1.0207	10	0.05525	T	0.97	.	17.513	0.87765	0.0:1.0:0.0:0.0	.	649;707;707	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	N	707;707;649;761;707	ENSP00000350215:S707N;ENSP00000195173:S707N;ENSP00000389588:S761N;ENSP00000377208:S707N	ENSP00000195173:S707N	S	-	2	0	SEMA5B	124115407	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.830000	0.55768	2.614000	0.88457	0.555000	0.69702	AGC		0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
CNTN6	27255	broad.mit.edu	37	3	1269521	1269521	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:1269521G>A	ENST00000446702.2	+	4	829	c.202G>A	c.(202-204)Gac>Aac	p.D68N	CNTN6_ENST00000350110.2_Missense_Mutation_p.D68N|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	68	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D68N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAATGGCACAGACATTGATTT	0.363																																					p.D68N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	3						.						119.0	117.0	118.0					3																	1269521		2203	4300	6503	1244521	SO:0001583	missense	27255	exon4			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.202G>A	3.37:g.1269521G>A	ENSP00000407822:p.Asp68Asn	Somatic		Capture	Illumina HiSeq	Phase_I	1244521	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596001	0.46318	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.68181	-0.31;-0.31	5.47	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.422589	0.22185	N	0.063441	T	0.56062	0.1960	L	0.42487	1.325	0.80722	D	1	B	0.21381	0.055	B	0.21917	0.037	T	0.47661	-0.9100	10	0.27082	T	0.32	.	10.5243	0.44938	0.0692:0.0:0.7969:0.1339	.	68	Q9UQ52	CNTN6_HUMAN	N	68	ENSP00000407822:D68N;ENSP00000341882:D68N	ENSP00000341882:D68N	D	+	1	0	CNTN6	1244521	1.000000	0.71417	0.235000	0.24058	0.992000	0.81027	2.196000	0.42686	0.748000	0.32831	0.557000	0.71058	GAC		0.363	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
SEC22A	26984	broad.mit.edu	37	3	122928176	122928176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122928176A>T	ENST00000309934.4	+	1	1008	c.112A>T	c.(112-114)Aaa>Taa	p.K38*	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Nonsense_Mutation_p.K38*|SEC22A_ENST00000492595.1_Nonsense_Mutation_p.K38*	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	38	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.K38*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		AAAGTATTTTAAAATGCTTTC	0.383																																					p.K38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A112T	3						.						111.0	104.0	106.0					3																	122928176		2203	4300	6503	124410866	SO:0001587	stop_gained	26984	exon2			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.112A>T	3.37:g.122928176A>T	ENSP00000310521:p.Lys38*	Somatic		Capture	Illumina HiSeq	Phase_I	124410866	NM_012430	B2RE26|Q9Y682	Nonsense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	38	7.076636	0.98048	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000481965;ENST00000466519;ENST00000480631;ENST00000491366;ENST00000487572;ENST00000309934	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.803	14.0207	0.64553	1.0:0.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000310521:K38X	K	+	1	0	SEC22A	124410866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.575000	0.90766	1.912000	0.55364	0.528000	0.53228	AAA		0.383	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430	
MYLK	4638	broad.mit.edu	37	3	123367898	123367898	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:123367898G>A	ENST00000475616.1	-	23	4334	c.4335C>T	c.(4333-4335)ccC>ccT	p.P1445P	MYLK_ENST00000360304.3_Silent_p.P1445P|MYLK_ENST00000346322.5_Silent_p.P1376P|MYLK_ENST00000354792.5_Silent_p.P245P|MYLK_ENST00000360772.3_Silent_p.P1445P|MYLK_ENST00000359169.1_Silent_p.P1445P			Q15746	MYLK_HUMAN	myosin light chain kinase	1445	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P1445P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AATCAACCTCGGGCTCCTTCT	0.532																																					p.P1445P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4335T	3						.						170.0	163.0	165.0					3																	123367898		2203	4300	6503	124850588	SO:0001819	synonymous_variant	4638	exon26			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4335C>T	3.37:g.123367898G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124850588	NM_053027	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
TSEN2	80746	broad.mit.edu	37	3	12544851	12544851	+	Silent	SNP	G	G	A	rs377321204		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12544851G>A	ENST00000284995.6	+	5	786	c.399G>A	c.(397-399)acG>acA	p.T133T	RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000314571.7_Silent_p.T133T|TSEN2_ENST00000444864.1_Silent_p.T133T|TSEN2_ENST00000454502.2_Silent_p.T133T|TSEN2_ENST00000402228.3_Silent_p.T133T|TSEN2_ENST00000415684.1_Silent_p.T133T|TSEN2_ENST00000383797.5_Silent_p.T133T	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	133					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.T133T(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGGATTACACGAAACCGCTTG	0.507																																					p.T133T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G399A	3						.	G	,,,,	0,4406		0,0,2203	110.0	101.0	104.0		399,399,399,399,399	-6.2	0.0	3		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TSEN2	NM_001145392.1,NM_001145393.1,NM_001145394.1,NM_001145395.1,NM_025265.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	133/466,133/440,133/407,133/403,133/466	12544851	1,13005	2203	4300	6503	12519851	SO:0001819	synonymous_variant	80746	exon5			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.399G>A	3.37:g.12544851G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12519851	NM_025265	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	CCDS2611.1																																																																																				0.507	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	
CCDC14	64770	broad.mit.edu	37	3	123667598	123667598	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:123667598T>C	ENST00000488653.2	-	7	858	c.768A>G	c.(766-768)ttA>ttG	p.L256L	CCDC14_ENST00000310351.4_Silent_p.L96L|CCDC14_ENST00000433542.2_Silent_p.L215L|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Silent_p.L56L|CCDC14_ENST00000485727.1_Silent_p.L56L			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	256					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.L96L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGGAGGTACATAAGCCATAAC	0.403																																					p.L215L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A645G	3						.						79.0	78.0	78.0					3																	123667598		2203	4300	6503	125150288	SO:0001819	synonymous_variant	64770	exon6			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.768A>G	3.37:g.123667598T>C		Somatic		Capture	Illumina HiSeq	Phase_I	125150288	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37																																																																																					0.403	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
UMPS	7372	broad.mit.edu	37	3	124453978	124453978	+	Silent	SNP	C	C	T	rs541748073		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124453978C>T	ENST00000232607.2	+	2	301	c.195C>T	c.(193-195)ggC>ggT	p.G65G	UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	65	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.G65G(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AAAATGCAGGCATCAGTTTTG	0.328																																					p.G65G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	3						.						80.0	70.0	73.0					3																	124453978		2203	4300	6503	125936668	SO:0001819	synonymous_variant	7372	exon2				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.195C>T	3.37:g.124453978C>T		Somatic		Capture	Illumina HiSeq	Phase_I	125936668	NM_000373	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	ENST00000232607.2	37	CCDS3029.1																																																																																				0.328	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373	
ITGB5	3693	broad.mit.edu	37	3	124483265	124483265	+	Silent	SNP	G	G	A	rs199862649		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124483265G>A	ENST00000296181.4	-	14	2573	c.2277C>T	c.(2275-2277)agC>agT	p.S759S	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	759					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.S759S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGATCGCTCGCTCTGAAACT	0.547																																					p.S759S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2277T	3						.	G		0,4406		0,0,2203	60.0	57.0	58.0		2277	-7.1	0.7	3		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB5	NM_002213.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		759/800	124483265	1,13005	2203	4300	6503	125965955	SO:0001819	synonymous_variant	3693	exon14			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2277C>T	3.37:g.124483265G>A		Somatic		Capture	Illumina HiSeq	Phase_I	125965955	NM_002213	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1																																																																																				0.547	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
MUC13	56667	broad.mit.edu	37	3	124630963	124630963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124630963C>T	ENST00000311075.3	-	9	1275	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	414					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.D413N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCCTTACAGTCGAGTCCACTG	0.438																																					p.D413N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	3						.						78.0	69.0	72.0					3																	124630963		2203	4300	6503	126113653	SO:0001583	missense	56667	exon9			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1237G>A	3.37:g.124630963C>T	ENSP00000312235:p.Asp413Asn	Somatic		Capture	Illumina HiSeq	Phase_I	126113653	NM_033049	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	C	7.154	0.584310	0.13749	.	.	ENSG00000173702	ENST00000311075	T	0.12465	2.68	5.06	-5.2	0.02823	.	0.745034	0.12369	N	0.474916	T	0.03220	0.0094	N	0.04669	-0.19	0.09310	N	1	P	0.44429	0.835	B	0.26770	0.073	T	0.41431	-0.9509	10	0.08381	T	0.77	-8.6077	12.7066	0.57063	0.0:0.2933:0.0:0.7067	.	413	Q9H3R2	MUC13_HUMAN	N	413	ENSP00000312235:D413N	ENSP00000312235:D413N	D	-	1	0	MUC13	126113653	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-3.740000	0.00378	-1.308000	0.02318	0.462000	0.41574	GAC		0.438	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049	
HEG1	57493	broad.mit.edu	37	3	124748130	124748130	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124748130G>A	ENST00000311127.4	-	2	586	c.519C>T	c.(517-519)agC>agT	p.S173S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	173					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S173S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTGAAGAGCCGCTCCTTCCTC	0.512																																					p.S173S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	3						.						92.0	89.0	90.0					3																	124748130		1960	4177	6137	126230820	SO:0001819	synonymous_variant	57493	exon2			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.519C>T	3.37:g.124748130G>A		Somatic		Capture	Illumina HiSeq	Phase_I	126230820	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.512	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
ALG1L	200810	broad.mit.edu	37	3	125648379	125648379	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:125648379C>T	ENST00000340333.3	-	6	543	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	127							transferase activity, transferring glycosyl groups (GO:0016757)	p.G127D(1)		large_intestine(2)|lung(2)	4						GTTTAGCTTGCCTGCAGGATC	0.517																																					p.G147D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	3						.						41.0	51.0	47.0					3																	125648379		1367	2308	3675	127131069	SO:0001583	missense	200810	exon7			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.380G>A	3.37:g.125648379C>T	ENSP00000340009:p.Gly127Asp	Somatic		Capture	Illumina HiSeq	Phase_I	127131069	NM_001195223	D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	9.895	1.205303	0.22205	.	.	ENSG00000189366	ENST00000340333	T	0.69175	-0.38	2.3	1.38	0.22167	.	0.267163	0.43579	D	0.000541	T	0.43545	0.1252	N	0.16656	0.425	0.44085	D	0.996847	P	0.43431	0.807	B	0.40285	0.325	T	0.18366	-1.0339	10	0.25106	T	0.35	-17.246	6.6105	0.22749	0.0:0.8298:0.0:0.1701	.	127	Q6GMV1	ALG1L_HUMAN	D	127	ENSP00000340009:G127D	ENSP00000340009:G127D	G	-	2	0	ALG1L	127131069	0.998000	0.40836	0.674000	0.29902	0.035000	0.12851	3.534000	0.53568	1.285000	0.44548	0.184000	0.17185	GGC		0.517	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050	
ALDH1L1	10840	broad.mit.edu	37	3	125843233	125843233	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:125843233C>T	ENST00000393434.2	-	16	2211	c.1862G>A	c.(1861-1863)gGt>gAt	p.G621D	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G520D|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G621D|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G631D	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	621	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G621D(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTAACCACACCTTTGGGAAT	0.582																																					p.G621D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862A	3						.						151.0	150.0	151.0					3																	125843233		2203	4300	6503	127325923	SO:0001583	missense	10840	exon16			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1862G>A	3.37:g.125843233C>T	ENSP00000377083:p.Gly621Asp	Somatic		Capture	Illumina HiSeq	Phase_I	127325923	NM_012190	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273581	0.59649	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.41	4.41	0.53225	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65751	-0.6092	10	0.87932	D	0	.	14.5752	0.68240	0.0:1.0:0.0:0.0	.	520;621	E9PBX3;O75891	.;AL1L1_HUMAN	D	631;621;520;621	ENSP00000273450:G631D;ENSP00000420293:G621D;ENSP00000395881:G520D;ENSP00000377083:G621D	ENSP00000273450:G631D	G	-	2	0	ALDH1L1	127325923	1.000000	0.71417	0.989000	0.46669	0.054000	0.15201	7.074000	0.76791	2.287000	0.76781	0.586000	0.80456	GGT		0.582	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	
CCDC37	348807	broad.mit.edu	37	3	126138962	126138962	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:126138962G>T	ENST00000352312.1	+	11	1071	c.972G>T	c.(970-972)aaG>aaT	p.K324N	CCDC37_ENST00000393425.1_Missense_Mutation_p.K325N|CCDC37_ENST00000505024.1_Missense_Mutation_p.K325N	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	324								p.K324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGGGTACAAAGAAGCCCTGGA	0.652																																					p.K324N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G972T	3						.						30.0	30.0	30.0					3																	126138962		2203	4300	6503	127621652	SO:0001583	missense	348807	exon11			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.972G>T	3.37:g.126138962G>T	ENSP00000344749:p.Lys324Asn	Somatic		Capture	Illumina HiSeq	Phase_I	127621652	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	5.857	0.342254	0.11069	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.31769	1.48;1.48;1.48	3.37	1.45	0.22620	.	1.292210	0.04845	N	0.441326	T	0.23054	0.0557	L	0.36672	1.1	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.35813	0.211;0.105	T	0.20140	-1.0284	10	0.33940	T	0.23	-12.7856	3.8153	0.08814	0.1304:0.0:0.631:0.2386	.	325;324	Q494V2-2;Q494V2	.;CCD37_HUMAN	N	324;325;325	ENSP00000344749:K324N;ENSP00000377076:K325N;ENSP00000423046:K325N	ENSP00000344749:K324N	K	+	3	2	CCDC37	127621652	0.366000	0.25014	0.007000	0.13788	0.011000	0.07611	2.007000	0.40883	0.387000	0.25024	0.491000	0.48974	AAG		0.652	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
CHST13	166012	broad.mit.edu	37	3	126255185	126255185	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:126255185G>T	ENST00000319340.2	+	2	219	c.169G>T	c.(169-171)Gac>Tac	p.D57Y		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	57					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.D57Y(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GAAGCTCTATGACCTGGATCA	0.602																																					p.D57Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169T	3						.						110.0	108.0	109.0					3																	126255185		2203	4300	6503	127737875	SO:0001583	missense	166012	exon2			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.169G>T	3.37:g.126255185G>T	ENSP00000317404:p.Asp57Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	127737875	NM_152889	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130116	0.37630	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.68903	-0.36	3.18	3.18	0.36537	.	1.672210	0.03628	U	0.237431	T	0.73048	0.3537	L	0.38175	1.15	0.80722	D	1	D	0.58970	0.984	P	0.58873	0.847	T	0.66212	-0.5980	10	0.62326	D	0.03	-3.4089	10.1162	0.42591	0.0:0.0:1.0:0.0	.	57	Q8NET6	CHSTD_HUMAN	Y	57	ENSP00000317404:D57Y	ENSP00000317404:D57Y	D	+	1	0	CHST13	127737875	0.998000	0.40836	0.754000	0.31244	0.319000	0.28217	3.574000	0.53863	2.063000	0.61619	0.467000	0.42956	GAC		0.602	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
CAND2	23066	broad.mit.edu	37	3	12858210	12858210	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12858210C>A	ENST00000456430.2	+	10	1820	c.1779C>A	c.(1777-1779)tcC>tcA	p.S593S	CAND2_ENST00000295989.5_Silent_p.S500S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	593					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.S500S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGCCATTTCCTGCATGGGCC	0.617																																					p.S500S	GBM(43;676 868 1633 6395 37496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1500A	3						.						68.0	78.0	75.0					3																	12858210		2143	4229	6372	12833210	SO:0001819	synonymous_variant	23066	exon8				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1779C>A	3.37:g.12858210C>A		Somatic		Capture	Illumina HiSeq	Phase_I	12833210	NM_012298	B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
CAND2	23066	broad.mit.edu	37	3	12869036	12869036	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12869036G>T	ENST00000456430.2	+	13	3349	c.3308G>T	c.(3307-3309)gGc>gTc	p.G1103V	CAND2_ENST00000295989.5_Missense_Mutation_p.G986V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1103					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.G986V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCTGCCTGGGCCAGCTGGAT	0.567																																					p.G986V	GBM(43;676 868 1633 6395 37496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2957T	3						.						116.0	119.0	118.0					3																	12869036		2053	4191	6244	12844036	SO:0001583	missense	23066	exon11				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3308G>T	3.37:g.12869036G>T	ENSP00000387641:p.Gly1103Val	Somatic		Capture	Illumina HiSeq	Phase_I	12844036	NM_012298	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803668	0.70682	.	.	ENSG00000144712	ENST00000295989;ENST00000456430;ENST00000454887	T;T;T	0.66815	-0.23;-0.23;-0.23	4.88	2.78	0.32641	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.127558	0.49916	D	0.000138	T	0.63768	0.2539	N	0.19112	0.55	0.58432	D	0.999999	B;D	0.89917	0.027;1.0	B;D	0.91635	0.063;0.999	T	0.62941	-0.6747	10	0.49607	T	0.09	-28.8154	4.5022	0.11869	0.418:0.0:0.582:0.0	.	1103;986	O75155;O75155-2	CAND2_HUMAN;.	V	986;1103;31	ENSP00000295989:G986V;ENSP00000387641:G1103V;ENSP00000403093:G31V	ENSP00000295989:G986V	G	+	2	0	CAND2	12844036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.737000	0.55060	1.063000	0.40649	0.467000	0.42956	GGC		0.567	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
TXNRD3NB	645840	broad.mit.edu	37	3	126291151	126291151	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:126291151G>T	ENST00000404489.2	-	1	328	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.S79Y			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	79								p.S79Y(1)		endometrium(1)|large_intestine(2)|skin(2)	5						ggagggtacagatctggcttg	0.532																																					p.S79Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C236A	3						.						59.0	58.0	59.0					3																	126291151		2203	4300	6503	127773841	SO:0001583	missense	645840	exon3			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.236C>A	3.37:g.126291151G>T	ENSP00000384071:p.Ser79Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	127773841	NM_001039783		Missense_Mutation	SNP	ENST00000404489.2	37	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	G	0.439	-0.899358	0.02472	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	-0.331	0.12679	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.14172	-1.0482	7	0.87932	D	0	.	.	.	.	.	79	Q6F5E7	TR3N_HUMAN	Y	79	.	ENSP00000373066:S79Y	S	-	2	0	TXNRD3NB	127773841	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.069000	0.14552	-0.167000	0.10871	0.467000	0.42956	TCT		0.532	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783	
KBTBD12	166348	broad.mit.edu	37	3	127642002	127642002	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:127642002T>C	ENST00000405109.1	+	2	565	c.98T>C	c.(97-99)gTg>gCg	p.V33A	KBTBD12_ENST00000405256.1_Missense_Mutation_p.V33A|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_5'Flank			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.V33A(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ATGATTGATGTGGTACTCACA	0.383																																					p.V33A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T98C	3						.						92.0	89.0	90.0					3																	127642002		1886	4130	6016	129124692	SO:0001583	missense	166348	exon1				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.98T>C	3.37:g.127642002T>C	ENSP00000385957:p.Val33Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129124692	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793906	0.50102	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.77750	-1.12;-1.12	5.51	5.51	0.81932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.81795	0.4898	M	0.87900	2.915	0.46222	D	0.99893	P	0.46859	0.885	P	0.45538	0.484	D	0.84954	0.0873	9	0.87932	D	0	.	10.0549	0.42239	0.0:0.075:0.0:0.925	.	33	Q3ZCT8	KBTBC_HUMAN	A	33	ENSP00000385957:V33A;ENSP00000385879:V33A	ENSP00000385957:V33A	V	+	2	0	KBTBD12	129124692	1.000000	0.71417	0.410000	0.26471	0.489000	0.33432	5.971000	0.70440	2.097000	0.63578	0.377000	0.23210	GTG		0.383	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
KBTBD12	166348	broad.mit.edu	37	3	127642969	127642969	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:127642969T>A	ENST00000405109.1	+	2	1532	c.1065T>A	c.(1063-1065)atT>atA	p.I355I	KBTBD12_ENST00000405256.1_Silent_p.I355I|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	355								p.I355I(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ATGTTGAAATTTATAGGTTTG	0.328																																					p.I355I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1065A	3						.						62.0	60.0	61.0					3																	127642969		1825	4078	5903	129125659	SO:0001819	synonymous_variant	166348	exon1				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1065T>A	3.37:g.127642969T>A		Somatic		Capture	Illumina HiSeq	Phase_I	129125659	NM_207335	B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	CCDS33848.2																																																																																				0.328	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
SEC61A1	29927	broad.mit.edu	37	3	127775644	127775644	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:127775644A>G	ENST00000243253.3	+	5	497	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T111A|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	105					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.T105A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AGTTGGTGACACCCCAAAAGA	0.423																																					p.T105A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A313G	3						.						80.0	79.0	79.0					3																	127775644		2203	4300	6503	129258334	SO:0001583	missense	29927	exon5			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.313A>G	3.37:g.127775644A>G	ENSP00000243253:p.Thr105Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129258334	NM_013336	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670789	0.47781	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	N	0.25332	0.735	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42766	-0.9432	9	0.35671	T	0.21	.	16.1388	0.81509	1.0:0.0:0.0:0.0	.	105	P61619	S61A1_HUMAN	A	111;105;52	.	ENSP00000243253:T105A	T	+	1	0	SEC61A1	129258334	1.000000	0.71417	0.994000	0.49952	0.537000	0.34900	9.339000	0.96797	2.205000	0.71048	0.528000	0.53228	ACC		0.423	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	
EEFSEC	60678	broad.mit.edu	37	3	127965852	127965852	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:127965852A>G	ENST00000254730.6	+	2	544	c.490A>G	c.(490-492)Acc>Gcc	p.T164A	EEFSEC_ENST00000483457.1_Missense_Mutation_p.T164A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	164	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.T164A(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGATAAAATGACCAAGAAAAT	0.468																																					p.T164A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A490G	3						.						133.0	136.0	135.0					3																	127965852		2203	4300	6503	129448542	SO:0001583	missense	60678	exon2				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.490A>G	3.37:g.127965852A>G	ENSP00000254730:p.Thr164Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129448542	NM_021937	Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741519	0.49151	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.41400	1.0;1.0	4.95	4.95	0.65309	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.41079	1.255	0.58432	D	0.999998	B;B	0.32968	0.392;0.146	B;B	0.37989	0.262;0.159	T	0.16276	-1.0408	10	0.25751	T	0.34	-2.0037	14.6388	0.68708	1.0:0.0:0.0:0.0	.	164;164	C9J8T0;P57772	.;SELB_HUMAN	A	164	ENSP00000254730:T164A;ENSP00000417660:T164A	ENSP00000254730:T164A	T	+	1	0	EEFSEC	129448542	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.359000	0.66074	1.857000	0.53885	0.260000	0.18958	ACC		0.468	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
DNAJB8	165721	broad.mit.edu	37	3	128181969	128181969	+	Missense_Mutation	SNP	C	C	A	rs199602765		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:128181969C>A	ENST00000469083.1	-	2	2677	c.120G>T	c.(118-120)gaG>gaT	p.E40D	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.E40D			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	40	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.E40D(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCTCCGCCTCCTCCTTATTGT	0.587																																					p.E40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G120T	3						.						161.0	160.0	160.0					3																	128181969		2203	4300	6503	129664659	SO:0001583	missense	165721	exon3				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.120G>T	3.37:g.128181969C>A	ENSP00000417418:p.Glu40Asp	Somatic		Capture	Illumina HiSeq	Phase_I	129664659	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846546	0.16963	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.33438	1.41;1.41	4.42	0.136	0.14780	Heat shock protein DnaJ, N-terminal (5);	0.053340	0.64402	D	0.000001	T	0.16685	0.0401	L	0.33245	0.995	0.58432	D	0.99999	B	0.15719	0.014	B	0.16289	0.015	T	0.09773	-1.0659	10	0.46703	T	0.11	.	1.2534	0.01987	0.144:0.3752:0.1411:0.3397	.	40	Q8NHS0	DNJB8_HUMAN	D	40	ENSP00000417418:E40D;ENSP00000316053:E40D	ENSP00000316053:E40D	E	-	3	2	DNAJB8	129664659	0.159000	0.22864	0.974000	0.42286	0.004000	0.04260	-0.395000	0.07287	0.290000	0.22444	0.561000	0.74099	GAG		0.587	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
C3orf27	23434	broad.mit.edu	37	3	128292316	128292316	+	Missense_Mutation	SNP	T	T	C	rs35833142		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:128292316T>C	ENST00000356020.2	-	3	1223	c.257A>G	c.(256-258)gAc>gGc	p.D86G		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	86								p.D86G(1)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CCTGAGCTCGTCATCTCTCTC	0.602																																					p.D86G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257G	3						.						67.0	70.0	69.0					3																	128292316		2203	4300	6503	129775006	SO:0001583	missense	23434	exon3			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.257A>G	3.37:g.128292316T>C	ENSP00000348302:p.Asp86Gly	Somatic		Capture	Illumina HiSeq	Phase_I	129775006	NM_007354		Missense_Mutation	SNP	ENST00000356020.2	37	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364864	0.24684	.	.	ENSG00000198685	ENST00000356020	.	.	.	2.42	0.866	0.19079	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.22880	0.042	T	0.23297	-1.0192	8	0.87932	D	0	.	3.6306	0.08130	0.0:0.4461:0.0:0.5539	.	86	O15544	GR6_HUMAN	G	86	.	ENSP00000348302:D86G	D	-	2	0	C3orf27	129775006	0.001000	0.12720	0.001000	0.08648	0.115000	0.19883	-0.029000	0.12329	0.177000	0.19895	0.402000	0.26972	GAC		0.602	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354	
ACAD9	28976	broad.mit.edu	37	3	128603576	128603576	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:128603576C>A	ENST00000308982.7	+	2	312	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	77						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.F77L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGAAAAATTCTTCACTGAAG	0.333																																					p.F77L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C231A	3						.						81.0	85.0	83.0					3																	128603576		2203	4300	6503	130086266	SO:0001583	missense	28976	exon2			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.231C>A	3.37:g.128603576C>A	ENSP00000312618:p.Phe77Leu	Somatic		Capture	Illumina HiSeq	Phase_I	130086266	NM_014049	D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	7.833	0.720311	0.15372	.	.	ENSG00000177646	ENST00000308982;ENST00000514336	D;D	0.99833	-7.03;-4.31	5.41	5.41	0.78517	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.64080	1.96	0.58432	D	0.999991	D	0.76494	0.999	D	0.72625	0.978	D	0.97099	0.9796	10	0.87932	D	0	.	14.6806	0.69015	0.0:1.0:0.0:0.0	.	77	Q9H845	ACAD9_HUMAN	L	77	ENSP00000312618:F77L;ENSP00000423758:F77L	ENSP00000312618:F77L	F	+	3	2	ACAD9	130086266	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.098000	0.41757	2.534000	0.85438	0.655000	0.94253	TTC		0.333	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049	
KIAA1257	57501	broad.mit.edu	37	3	128707731	128707731	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:128707731T>C	ENST00000265068.5	-	3	460	c.293A>G	c.(292-294)gAa>gGa	p.E98G	KIAA1257_ENST00000515659.1_5'UTR|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E98G	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	98								p.E98G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTTATATTTTTCAATCAAACT	0.393																																					p.E98G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A293G	3						.						79.0	77.0	78.0					3																	128707731		1860	4094	5954	130190421	SO:0001583	missense	57501	exon3			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.293A>G	3.37:g.128707731T>C	ENSP00000265068:p.Glu98Gly	Somatic		Capture	Illumina HiSeq	Phase_I	130190421	NM_020741	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104480	0.56291	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	5.67	4.5	0.54988	.	.	.	.	.	T	0.53932	0.1827	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.64776	0.929;0.929	T	0.53556	-0.8422	8	0.46703	T	0.11	-12.7031	9.7948	0.40728	0.0:0.0:0.1735:0.8265	.	98;98	Q9ULG3;D6RH05	K1257_HUMAN;.	G	98	.	ENSP00000265068:E98G	E	-	2	0	KIAA1257	130190421	0.865000	0.29922	0.297000	0.24988	0.045000	0.14185	2.791000	0.47829	0.964000	0.38108	0.528000	0.53228	GAA		0.393	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741	
EFCAB12	90288	broad.mit.edu	37	3	129127618	129127618	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:129127618C>T	ENST00000505956.1	-	6	1281	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	EFCAB12_ENST00000326085.3_Silent_p.P373P	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	373							calcium ion binding (GO:0005509)	p.P373P(1)									GGATGGTGGACGGGAGGCAGT	0.572																																					p.P373P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1119A	3						.						57.0	58.0	58.0					3																	129127618		2088	4214	6302	130610308	SO:0001819	synonymous_variant	90288	exon6			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1119G>A	3.37:g.129127618C>T		Somatic		Capture	Illumina HiSeq	Phase_I	130610308	NM_207307	Q69YX4	Silent	SNP	ENST00000505956.1	37	CCDS54638.1																																																																																				0.572	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307	
MBD4	8930	broad.mit.edu	37	3	129156094	129156094	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:129156094A>G	ENST00000249910.1	-	3	568	c.393T>C	c.(391-393)aaT>aaC	p.N131N	IFT122_ENST00000349441.2_5'Flank|IFT122_ENST00000507564.1_5'Flank|MBD4_ENST00000503197.1_Silent_p.N131N|MBD4_ENST00000507208.1_Silent_p.N131N|MBD4_ENST00000429544.2_Silent_p.N131N|IFT122_ENST00000504021.1_5'Flank|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|IFT122_ENST00000347300.2_5'Flank|IFT122_ENST00000296266.3_5'Flank|IFT122_ENST00000431818.2_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	131	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.N131N(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AAGTCTCTCCATTTTTGTGAA	0.358								Base excision repair (BER), DNA glycosylases																													p.N131N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T393C	3						.						50.0	52.0	52.0					3																	129156094		2203	4298	6501	130638784	SO:0001819	synonymous_variant	8930	exon3			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.393T>C	3.37:g.129156094A>G		Somatic		Capture	Illumina HiSeq	Phase_I	130638784	NM_003925	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	CCDS3058.1																																																																																				0.358	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
CNTN6	27255	broad.mit.edu	37	3	1337291	1337291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:1337291C>A	ENST00000446702.2	+	6	1088	c.461C>A	c.(460-462)tCt>tAt	p.S154Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.S154Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S82Y			Q9UQ52	CNTN6_HUMAN	contactin 6	154	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S154Y(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAGATTTATCTTATGCATGG	0.358																																					p.S154Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461A	3						.						61.0	59.0	59.0					3																	1337291		2203	4300	6503	1312291	SO:0001583	missense	27255	exon6			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.461C>A	3.37:g.1337291C>A	ENSP00000407822:p.Ser154Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	1312291	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433101	0.43224	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.69685	-0.42;-0.42;-0.42	5.91	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.222920	0.32106	N	0.006579	T	0.62208	0.2409	M	0.62016	1.91	0.36206	D	0.851039	B;D	0.56035	0.004;0.974	B;P	0.46659	0.007;0.523	T	0.63084	-0.6716	10	0.08381	T	0.77	.	10.4665	0.44611	0.1364:0.7853:0.0:0.0783	.	82;154	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	Y	154;82;154	ENSP00000407822:S154Y;ENSP00000442791:S82Y;ENSP00000341882:S154Y	ENSP00000341882:S154Y	S	+	2	0	CNTN6	1312291	0.154000	0.22792	0.987000	0.45799	0.993000	0.82548	0.831000	0.27476	2.794000	0.96219	0.655000	0.94253	TCT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
PLXND1	23129	broad.mit.edu	37	3	129286546	129286546	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:129286546C>T	ENST00000324093.4	-	21	4146	c.3968G>A	c.(3967-3969)cGc>cAc	p.R1323H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1323H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1323					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1323H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTACCTTTGCGGATTTCCTC	0.612																																					p.R1323H	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3968A	3						.						71.0	65.0	67.0					3																	129286546		2203	4300	6503	130769236	SO:0001583	missense	23129	exon21			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3968G>A	3.37:g.129286546C>T	ENSP00000317128:p.Arg1323His	Somatic		Capture	Illumina HiSeq	Phase_I	130769236	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512850	0.85389	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.39406	1.14;1.08	5.3	4.42	0.53409	.	0.144561	0.46758	D	0.000274	T	0.60573	0.2279	M	0.66939	2.045	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	T	0.63559	-0.6610	10	0.87932	D	0	.	11.2454	0.48993	0.0:0.8012:0.128:0.0708	.	1323	Q9Y4D7	PLXD1_HUMAN	H	1323	ENSP00000317128:R1323H;ENSP00000376931:R1323H	ENSP00000317128:R1323H	R	-	2	0	PLXND1	130769236	1.000000	0.71417	0.885000	0.34714	0.894000	0.52154	5.332000	0.65911	1.228000	0.43614	0.655000	0.94253	CGC		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
COL6A6	131873	broad.mit.edu	37	3	130289886	130289886	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:130289886C>A	ENST00000358511.6	+	6	2657	c.2626C>A	c.(2626-2628)Ctc>Atc	p.L876I	COL6A6_ENST00000453409.2_Missense_Mutation_p.L876I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	876	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L876I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATTTCAGTGCTCCAGAATGA	0.517																																					p.L876I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2626A	3						.						55.0	57.0	57.0					3																	130289886		1921	4133	6054	131772576	SO:0001583	missense	131873	exon6			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2626C>A	3.37:g.130289886C>A	ENSP00000351310:p.Leu876Ile	Somatic		Capture	Illumina HiSeq	Phase_I	131772576	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	0.785	-0.760904	0.02996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.75821	-0.97;-0.97	4.87	2.89	0.33648	von Willebrand factor, type A (3);	0.126232	0.36374	N	0.002637	T	0.46054	0.1373	N	0.02697	-0.525	0.21105	N	0.999789	B	0.14805	0.011	B	0.19946	0.027	T	0.24297	-1.0164	10	0.06236	T	0.91	.	12.5921	0.56449	0.4927:0.5073:0.0:0.0	.	876	A6NMZ7	CO6A6_HUMAN	I	876	ENSP00000351310:L876I;ENSP00000399236:L876I	ENSP00000351310:L876I	L	+	1	0	COL6A6	131772576	0.949000	0.32298	0.744000	0.31058	0.394000	0.30568	2.187000	0.42602	1.161000	0.42604	0.561000	0.74099	CTC		0.517	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
PIK3R4	30849	broad.mit.edu	37	3	130427153	130427153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:130427153C>T	ENST00000356763.3	-	10	3072	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	839					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E839K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCATCTGGTTCTTGTTTGGTT	0.363																																					p.E839K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2515A	3						.						185.0	167.0	173.0					3																	130427153		2203	4300	6503	131909843	SO:0001583	missense	30849	exon10			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2515G>A	3.37:g.130427153C>T	ENSP00000349205:p.Glu839Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131909843	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115076	0.37339	.	.	ENSG00000196455	ENST00000356763	T	0.42900	0.96	5.47	5.47	0.80525	.	0.164058	0.53938	D	0.000048	T	0.35335	0.0928	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.29792	-1.0000	10	0.06099	T	0.92	-21.0529	19.3249	0.94258	0.0:1.0:0.0:0.0	.	839	Q99570	PI3R4_HUMAN	K	839	ENSP00000349205:E839K	ENSP00000349205:E839K	E	-	1	0	PIK3R4	131909843	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.375000	0.79646	2.567000	0.86603	0.563000	0.77884	GAA		0.363	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PIK3R4	30849	broad.mit.edu	37	3	130437259	130437259	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:130437259G>T	ENST00000356763.3	-	8	2658	c.2101C>A	c.(2101-2103)Cca>Aca	p.P701T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	701					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P701T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTAATATATGGGTCAAGATAA	0.388																																					p.P701T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2101A	3						.						187.0	176.0	180.0					3																	130437259		2203	4300	6503	131919949	SO:0001583	missense	30849	exon8			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2101C>A	3.37:g.130437259G>T	ENSP00000349205:p.Pro701Thr	Somatic		Capture	Illumina HiSeq	Phase_I	131919949	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144431	0.77888	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.051128	0.85682	D	0.000000	D	0.84383	0.5460	M	0.91510	3.215	0.80722	D	1	P	0.49307	0.922	B	0.42625	0.393	D	0.88504	0.3084	10	0.66056	D	0.02	-14.866	19.2968	0.94126	0.0:0.0:1.0:0.0	.	701	Q99570	PI3R4_HUMAN	T	701;60;60;60	ENSP00000349205:P701T;ENSP00000427302:P60T;ENSP00000424274:P60T;ENSP00000422767:P60T	ENSP00000349205:P701T	P	-	1	0	PIK3R4	131919949	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	7.590000	0.82653	2.562000	0.86427	0.555000	0.69702	CCA		0.388	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
NEK11	79858	broad.mit.edu	37	3	130887692	130887692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:130887692G>T	ENST00000510769.1	+	9	1133	c.880G>T	c.(880-882)Gga>Tga	p.G294*	NEK11_ENST00000511262.1_Nonsense_Mutation_p.G399*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.G399*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.G399*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.G399*|NEK11_ENST00000383366.4_Nonsense_Mutation_p.G399*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.G399*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.G399*|NEK11_ENST00000412440.2_Intron					NIMA-related kinase 11									p.G399*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATTTAAAAGGAATGGAAGA	0.438																																					p.G399X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1195T	3						.						58.0	57.0	57.0					3																	130887692		2203	4300	6503	132370382	SO:0001587	stop_gained	79858	exon13			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.880G>T	3.37:g.130887692G>T	ENSP00000421549:p.Gly294*	Somatic		Capture	Illumina HiSeq	Phase_I	132370382	NM_024800		Nonsense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.974377	0.97162	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	.	.	.	5.29	2.4	0.29515	.	1.873330	0.03269	N	0.184389	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.543	0.07818	0.0914:0.1712:0.5601:0.1773	.	.	.	.	X	294;399;399;399;399;399;399;399	.	ENSP00000349389:G399X	G	+	1	0	NEK11	132370382	0.123000	0.22298	0.018000	0.16275	0.078000	0.17371	0.846000	0.27682	0.684000	0.31448	0.555000	0.69702	GGA		0.438	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	
CPNE4	131034	broad.mit.edu	37	3	131254061	131254061	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:131254061G>T	ENST00000512055.1	-	20	3778	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	CPNE4_ENST00000512332.1_Missense_Mutation_p.S569Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.S551Y|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000429747.1_Missense_Mutation_p.S551Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.S569Y			Q96A23	CPNE4_HUMAN	copine IV	551						extracellular vesicular exosome (GO:0070062)		p.S551Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGTTCTGGAAGATTCATACAT	0.393																																					p.S551Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1652A	3						.						144.0	128.0	133.0					3																	131254061		2203	4300	6503	132736751	SO:0001583	missense	131034	exon16			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1652C>A	3.37:g.131254061G>T	ENSP00000421705:p.Ser551Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	132736751	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737593	0.49045	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.56941	0.45;0.45;0.43;0.45;0.43	5.25	5.25	0.73442	.	0.328747	0.35067	N	0.003467	T	0.69602	0.3129	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.971	D;P	0.74348	0.983;0.598	T	0.71948	-0.4438	10	0.72032	D	0.01	-10.5799	18.8677	0.92300	0.0:0.0:1.0:0.0	.	569;551	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Y	551;551;569;551;569	ENSP00000421705:S551Y;ENSP00000411904:S551Y;ENSP00000424853:S569Y;ENSP00000423811:S551Y;ENSP00000421646:S569Y	ENSP00000411904:S551Y	S	-	2	0	CPNE4	132736751	1.000000	0.71417	0.981000	0.43875	0.013000	0.08279	9.229000	0.95273	2.460000	0.83146	0.557000	0.71058	TCT		0.393	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
DNAJC13	23317	broad.mit.edu	37	3	132166294	132166294	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:132166294G>A	ENST00000260818.6	+	4	522	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	92					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.E92K(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCACAGAACAGAACTTCTTAC	0.333																																					p.E92K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	3						.						37.0	40.0	39.0					3																	132166294		2203	4299	6502	133648984	SO:0001583	missense	23317	exon4			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.274G>A	3.37:g.132166294G>A	ENSP00000260818:p.Glu92Lys	Somatic		Capture	Illumina HiSeq	Phase_I	133648984	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216506	0.79352	.	.	ENSG00000138246	ENST00000260818	T	0.18960	2.18	5.87	5.0	0.66597	.	0.052380	0.85682	D	0.000000	T	0.31827	0.0809	M	0.62723	1.935	0.58432	D	0.999999	P;P	0.44260	0.83;0.608	P;B	0.46110	0.504;0.076	T	0.07947	-1.0746	10	0.52906	T	0.07	.	16.8291	0.85939	0.0:0.0:0.8703:0.1297	.	92;92	A7E2Y5;O75165	.;DJC13_HUMAN	K	92	ENSP00000260818:E92K	ENSP00000260818:E92K	E	+	1	0	DNAJC13	133648984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.558000	0.98132	1.615000	0.50252	-0.169000	0.13324	GAA		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
DNAJC13	23317	broad.mit.edu	37	3	132218131	132218131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:132218131C>T	ENST00000260818.6	+	37	4566	c.4318C>T	c.(4318-4320)Ctc>Ttc	p.L1440F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1440					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.L823F(1)|p.L1440F(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGCTGAAGAGCTCAGAAGAGA	0.433																																					p.L1440F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4318T	3						.						95.0	99.0	98.0					3																	132218131		2203	4300	6503	133700821	SO:0001583	missense	23317	exon37			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4318C>T	3.37:g.132218131C>T	ENSP00000260818:p.Leu1440Phe	Somatic		Capture	Illumina HiSeq	Phase_I	133700821	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590444	0.86851	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.52295	0.67	5.38	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.074715	0.56097	N	0.000031	T	0.72095	0.3418	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.78391	-0.2222	10	0.87932	D	0	.	14.3565	0.66740	0.0:0.9284:0.0:0.0716	.	1440	O75165	DJC13_HUMAN	F	1440;87	ENSP00000260818:L1440F	ENSP00000260818:L1440F	L	+	1	0	DNAJC13	133700821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.535000	0.82014	1.415000	0.47037	0.555000	0.69702	CTC		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
NPHP3	27031	broad.mit.edu	37	3	132411590	132411590	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:132411590A>C	ENST00000337331.5	-	17	2469	c.2383T>G	c.(2383-2385)Tcc>Gcc	p.S795A	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	795					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.S795A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAGTCCAGGACATCTCAGGA	0.383																																					p.S795A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2383G	3						.						123.0	108.0	113.0					3																	132411590		2203	4300	6503	133894280	SO:0001583	missense	27031	exon17			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2383T>G	3.37:g.132411590A>C	ENSP00000338766:p.Ser795Ala	Somatic		Capture	Illumina HiSeq	Phase_I	133894280	NM_153240	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372093	0.42003	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91237	-2.81	5.4	-0.225	0.13111	.	0.432393	0.27354	N	0.019747	D	0.83022	0.5164	L	0.47716	1.5	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.68413	-0.5415	10	0.25751	T	0.34	-3.5379	5.9818	0.19411	0.4387:0.0:0.0717:0.4896	.	795	Q7Z494	NPHP3_HUMAN	A	75;795	ENSP00000338766:S795A	ENSP00000338766:S795A	S	-	1	0	NPHP3	133894280	0.949000	0.32298	0.546000	0.28166	0.981000	0.71138	1.510000	0.35790	0.023000	0.15187	0.477000	0.44152	TCC		0.383	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
CNTN6	27255	broad.mit.edu	37	3	1371531	1371531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:1371531G>A	ENST00000446702.2	+	11	1903	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	CNTN6_ENST00000350110.2_Missense_Mutation_p.D426N|CNTN6_ENST00000539053.1_Missense_Mutation_p.D354N			Q9UQ52	CNTN6_HUMAN	contactin 6	426	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D426N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTTGGTGGGGATATTGTTAT	0.373																																					p.D426N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	3						.						79.0	81.0	80.0					3																	1371531		2203	4299	6502	1346531	SO:0001583	missense	27255	exon11			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1276G>A	3.37:g.1371531G>A	ENSP00000407822:p.Asp426Asn	Somatic		Capture	Illumina HiSeq	Phase_I	1346531	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036723	0.54896	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67345	-0.26;-0.26;-0.26	5.71	3.92	0.45320	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.442970	0.21355	N	0.075902	T	0.42131	0.1189	N	0.11201	0.11	0.42653	D	0.993451	B	0.19200	0.034	B	0.18561	0.022	T	0.22977	-1.0201	10	0.15499	T	0.54	.	8.145	0.31106	0.1421:0.1278:0.73:0.0	.	426	Q9UQ52	CNTN6_HUMAN	N	426;354;426	ENSP00000407822:D426N;ENSP00000442791:D354N;ENSP00000341882:D426N	ENSP00000341882:D426N	D	+	1	0	CNTN6	1346531	1.000000	0.71417	0.978000	0.43139	0.921000	0.55340	2.798000	0.47884	1.421000	0.47157	-0.253000	0.11424	GAT		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
NPHP3	27031	broad.mit.edu	37	3	132432047	132432047	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:132432047A>C	ENST00000337331.5	-	6	1127	c.1041T>G	c.(1039-1041)aaT>aaG	p.N347K	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Missense_Mutation_p.N347K	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	347					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.N347K(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGGTATTGATTTTCAACAT	0.279																																					p.N347K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1041G	3						.						44.0	46.0	46.0					3																	132432047		2199	4274	6473	133914737	SO:0001583	missense	27031	exon6			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1041T>G	3.37:g.132432047A>C	ENSP00000338766:p.Asn347Lys	Somatic		Capture	Illumina HiSeq	Phase_I	133914737	NM_153240	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393645	0.42410	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91464	-2.85;-2.74	6.02	4.86	0.63082	.	0.247012	0.47852	D	0.000210	D	0.84488	0.5483	L	0.43152	1.355	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.76110	-0.3079	10	0.15499	T	0.54	-26.2459	8.8583	0.35242	0.8059:0.1277:0.0663:0.0	.	347	Q7Z494	NPHP3_HUMAN	K	347	ENSP00000319909:N347K;ENSP00000338766:N347K	ENSP00000319909:N347K	N	-	3	2	NPHP3	133914737	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.766000	0.38491	1.106000	0.41623	0.482000	0.46254	AAT		0.279	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
TF	7018	broad.mit.edu	37	3	133467337	133467337	+	Missense_Mutation	SNP	G	G	A	rs41298293	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:133467337G>A	ENST00000402696.3	+	2	610	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TF_ENST00000264998.3_Intron|TF_ENST00000475382.1_3'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	42	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		R -> L (in dbSNP:rs41298293).		blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.R42H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CAGAGTTTCCGCGACCATATG	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		20900	0.0		0.0	False		,,,				2504	0.002				p.R42H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125A	3						.						216.0	175.0	189.0					3																	133467337		2203	4300	6503	134950027	SO:0001583	missense	7018	exon2				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.125G>A	3.37:g.133467337G>A	ENSP00000385834:p.Arg42His	Somatic		Capture	Illumina HiSeq	Phase_I	134950027	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668952	0.29604	.	.	ENSG00000091513	ENST00000402696	T	0.35789	1.29	4.24	1.16	0.20824	.	0.912468	0.09415	N	0.805193	T	0.24928	0.0605	L	0.54323	1.7	0.09310	N	0.999997	P	0.37015	0.578	B	0.26202	0.067	T	0.25467	-1.0131	10	0.49607	T	0.09	-2.5186	2.3773	0.04345	0.3063:0.0:0.4612:0.2324	.	42	P02787	TRFE_HUMAN	H	42	ENSP00000385834:R42H	ENSP00000385834:R42H	R	+	2	0	TF	134950027	0.020000	0.18652	0.029000	0.17559	0.016000	0.09150	1.368000	0.34216	0.432000	0.26286	0.563000	0.77884	CGC		0.542	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
SLCO2A1	6578	broad.mit.edu	37	3	133670122	133670122	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:133670122G>T	ENST00000310926.4	-	6	1064	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S188Y	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	264					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.S264Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TAAAGCTGAAGAAATGAGCAG	0.493																																					p.S264Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C791A	3						.						88.0	91.0	90.0					3																	133670122		2203	4300	6503	135152812	SO:0001583	missense	6578	exon6				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.791C>A	3.37:g.133670122G>T	ENSP00000311291:p.Ser264Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	135152812	NM_005630	Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992120	0.54041	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.41400	1.0;1.0	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.231582	0.44902	D	0.000417	T	0.64768	0.2628	M	0.82132	2.575	0.58432	D	0.99999	D;D;D	0.61080	0.985;0.989;0.96	P;P;P	0.61070	0.807;0.883;0.83	T	0.71941	-0.4440	10	0.87932	D	0	.	17.826	0.88665	0.0:0.0:1.0:0.0	.	264;188;264	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	Y	264;188	ENSP00000311291:S264Y;ENSP00000418893:S188Y	ENSP00000311291:S264Y	S	-	2	0	SLCO2A1	135152812	1.000000	0.71417	0.990000	0.47175	0.477000	0.33069	6.396000	0.73234	2.203000	0.70933	0.514000	0.50259	TCT		0.493	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
STAG1	10274	broad.mit.edu	37	3	136240171	136240171	+	Missense_Mutation	SNP	C	C	T	rs535245987		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:136240171C>T	ENST00000383202.2	-	7	816	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	STAG1_ENST00000236698.5_Missense_Mutation_p.R187Q|STAG1_ENST00000480733.1_Missense_Mutation_p.R187Q|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R187Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTGACACTGTCGAATCAGGAC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		15212	0.001		0.0	False		,,,				2504	0.0				p.R187Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G560A	3						.						105.0	100.0	101.0					3																	136240171		2203	4300	6503	137722861	SO:0001583	missense	10274	exon7			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.560G>A	3.37:g.136240171C>T	ENSP00000372689:p.Arg187Gln	Somatic		Capture	Illumina HiSeq	Phase_I	137722861	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097610	0.76870	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.40756	1.42;1.42;1.02	5.78	5.78	0.91487	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.45352	1.415	0.80722	D	1	B;P;D;P	0.89917	0.335;0.504;1.0;0.665	B;B;D;B	0.75484	0.112;0.121;0.986;0.255	T	0.39820	-0.9595	10	0.10111	T	0.7	.	20.0024	0.97423	0.0:1.0:0.0:0.0	.	204;187;187;187	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	Q	187	ENSP00000372689:R187Q;ENSP00000236698:R187Q;ENSP00000420789:R187Q	ENSP00000236698:R187Q	R	-	2	0	STAG1	137722861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.722000	0.93159	0.467000	0.42956	CGA		0.398	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
CLDN18	51208	broad.mit.edu	37	3	137729212	137729212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:137729212C>T	ENST00000183605.5	+	1	371	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	49					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L49F(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GTACGAAGGGCTCTGGAGGAG	0.642																																					p.L49F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C145T	3						.						76.0	68.0	71.0					3																	137729212		2203	4300	6503	139211902	SO:0001583	missense	51208	exon1			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.145C>T	3.37:g.137729212C>T	ENSP00000183605:p.Leu49Phe	Somatic		Capture	Illumina HiSeq	Phase_I	139211902	NM_016369	A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000183605.5	37	CCDS3095.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229724	0.79688	.	.	ENSG00000066405	ENST00000183605;ENST00000536138	D	0.95377	-3.69	5.55	4.65	0.58169	Claudin, conserved site (1);	.	.	.	.	D	0.98356	0.9454	H	0.94462	3.54	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	9	0.87932	D	0	.	16.1901	0.81981	0.0:0.8665:0.1335:0.0	.	49	P56856	CLD18_HUMAN	F	49	ENSP00000183605:L49F	ENSP00000183605:L49F	L	+	1	0	CLDN18	139211902	1.000000	0.71417	0.929000	0.37066	0.948000	0.59901	6.660000	0.74417	1.304000	0.44892	0.467000	0.42956	CTC		0.642	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026	
DZIP1L	199221	broad.mit.edu	37	3	137813813	137813813	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:137813813T>A	ENST00000327532.2	-	4	961	c.599A>T	c.(598-600)aAa>aTa	p.K200I	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.K200I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	200					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.K200I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGTTCCTGTTTCTTCTGTTT	0.532																																					p.K200I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A599T	3						.						183.0	166.0	172.0					3																	137813813		2203	4300	6503	139296503	SO:0001583	missense	199221	exon5			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.599A>T	3.37:g.137813813T>A	ENSP00000332148:p.Lys200Ile	Somatic		Capture	Illumina HiSeq	Phase_I	139296503	NM_001170538	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860357	0.71834	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.48836	0.8;0.8	5.37	2.9	0.33743	.	0.571406	0.15973	N	0.235693	T	0.45657	0.1353	L	0.29908	0.895	0.38589	D	0.95038	D;D	0.54047	0.963;0.964	P;P	0.55508	0.777;0.694	T	0.30995	-0.9959	10	0.35671	T	0.21	-3.7623	7.8133	0.29243	0.1374:0.0:0.144:0.7186	.	200;200	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	I	200	ENSP00000332148:K200I;ENSP00000419486:K200I	ENSP00000332148:K200I	K	-	2	0	DZIP1L	139296503	1.000000	0.71417	0.906000	0.35671	0.807000	0.45602	1.361000	0.34136	0.306000	0.22856	0.460000	0.39030	AAA		0.532	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
DBR1	51163	broad.mit.edu	37	3	137881411	137881411	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:137881411C>T	ENST00000260803.4	-	8	1108	c.955G>A	c.(955-957)Gca>Aca	p.A319T	DBR1_ENST00000505015.2_Missense_Mutation_p.A85T	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	319					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.A319T(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCTTCTGTTGCACTATAATCC	0.323																																					p.A319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	3						.						71.0	79.0	77.0					3																	137881411		2201	4300	6501	139364101	SO:0001583	missense	51163	exon8			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.955G>A	3.37:g.137881411C>T	ENSP00000260803:p.Ala319Thr	Somatic		Capture	Illumina HiSeq	Phase_I	139364101	NM_016216	Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281155	0.40394	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.46819	0.86	5.86	4.05	0.47172	Lariat debranching enzyme, C-terminal (1);	0.050359	0.85682	D	0.000000	T	0.56731	0.2005	M	0.84683	2.71	0.46167	D	0.998903	P;P	0.43352	0.51;0.804	B;P	0.48141	0.409;0.568	T	0.55186	-0.8180	10	0.21540	T	0.41	-12.277	9.6313	0.39780	0.0:0.7793:0.1432:0.0775	.	319;87	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	T	319;85	ENSP00000260803:A319T	ENSP00000260803:A319T	A	-	1	0	DBR1	139364101	1.000000	0.71417	0.996000	0.52242	0.582000	0.36321	3.015000	0.49599	0.793000	0.33875	0.563000	0.77884	GCA		0.323	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
ARMC8	25852	broad.mit.edu	37	3	137953878	137953878	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:137953878G>A	ENST00000469044.1	+	7	802	c.531G>A	c.(529-531)ggG>ggA	p.G177G	ARMC8_ENST00000470821.1_Silent_p.G177G|ARMC8_ENST00000461822.1_Silent_p.G177G|ARMC8_ENST00000485396.1_Silent_p.G104G|ARMC8_ENST00000491704.1_Silent_p.G135G|ARMC8_ENST00000489213.1_Silent_p.G135G|ARMC8_ENST00000481646.1_Silent_p.G163G|ARMC8_ENST00000393058.3_Silent_p.G167G|ARMC8_ENST00000538260.1_Silent_p.G146G|ARMC8_ENST00000358441.2_Silent_p.G163G|ARMC8_ENST00000471453.1_Silent_p.G163G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	177								p.G163G(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCTTACAGGGGCCAGATCATC	0.333																																					p.G163G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G489A	3						.						91.0	90.0	90.0					3																	137953878		2203	4299	6502	139436568	SO:0001819	synonymous_variant	25852	exon8				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.531G>A	3.37:g.137953878G>A		Somatic		Capture	Illumina HiSeq	Phase_I	139436568	NM_014154	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643238	0.29246	.	.	ENSG00000114098	ENST00000469860	T	0.45276	0.9	5.62	-0.606	0.11619	.	0.146819	0.64402	D	0.000008	T	0.32912	0.0845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04509	-1.0946	7	0.23891	T	0.37	-9.2961	5.6043	0.17371	0.1839:0.0:0.3479:0.4682	.	.	.	.	D	34	ENSP00000419473:G34D	ENSP00000419473:G34D	G	+	2	0	ARMC8	139436568	0.902000	0.30710	1.000000	0.80357	0.998000	0.95712	-0.056000	0.11787	0.199000	0.20427	0.655000	0.94253	GGC		0.333	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
CEP70	80321	broad.mit.edu	37	3	138289960	138289960	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:138289960C>T	ENST00000264982.3	-	5	466	c.200G>A	c.(199-201)aGa>aAa	p.R67K	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.R67K|CEP70_ENST00000464035.1_Missense_Mutation_p.R67K|CEP70_ENST00000542237.1_Missense_Mutation_p.R47K|CEP70_ENST00000481834.1_Missense_Mutation_p.R67K|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	67					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.R67K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CAAATTCTGTCTCATCCTTTG	0.289																																					p.R67K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	3						.						80.0	76.0	77.0					3																	138289960		2202	4296	6498	139772650	SO:0001583	missense	80321	exon5			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.200G>A	3.37:g.138289960C>T	ENSP00000264982:p.Arg67Lys	Somatic		Capture	Illumina HiSeq	Phase_I	139772650	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552877	0.86127	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.60797	0.83;0.86;0.83;0.86;0.78;0.21;0.19;0.16	5.06	5.06	0.68205	.	0.056944	0.64402	D	0.000002	T	0.72787	0.3504	M	0.70275	2.135	0.42321	D	0.992252	D;D;D	0.71674	0.99;0.998;0.996	D;D;D	0.77557	0.98;0.99;0.987	T	0.71314	-0.4630	10	0.34782	T	0.22	-17.1552	13.7808	0.63081	0.0:1.0:0.0:0.0	.	47;67;67	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	K	67;47;67;49;67;46;47;67;67	ENSP00000264982:R67K;ENSP00000444128:R47K;ENSP00000419231:R67K;ENSP00000419833:R49K;ENSP00000417465:R67K;ENSP00000418131:R46K;ENSP00000417819:R47K;ENSP00000419743:R67K	ENSP00000264982:R67K	R	-	2	0	CEP70	139772650	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.225000	0.58600	2.616000	0.88540	0.655000	0.94253	AGA		0.289	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
PRR23B	389151	broad.mit.edu	37	3	138739028	138739028	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:138739028G>A	ENST00000329447.5	-	1	740	c.476C>T	c.(475-477)gCg>gTg	p.A159V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	159								p.A159V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCGGGGTCCGCGTCCTCCTC	0.647																																					p.A159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C476T	3						.						36.0	42.0	40.0					3																	138739028		2202	4300	6502	140221718	SO:0001583	missense	389151	exon1			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.476C>T	3.37:g.138739028G>A	ENSP00000328768:p.Ala159Val	Somatic		Capture	Illumina HiSeq	Phase_I	140221718	NM_001013650	B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070479	0.55539	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.72	-0.522	0.11928	.	0.892201	0.09245	N	0.828714	T	0.56601	0.1996	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.45011	-0.9290	9	0.72032	D	0.01	.	5.7921	0.18367	0.0:0.4082:0.3836:0.2082	.	159	Q6ZRT6	PR23B_HUMAN	V	159	.	ENSP00000328768:A159V	A	-	2	0	PRR23B	140221718	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.017000	0.13399	-0.104000	0.12154	0.456000	0.33151	GCG		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
COPB2	9276	broad.mit.edu	37	3	139093358	139093358	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:139093358G>A	ENST00000333188.5	-	7	905	c.724C>T	c.(724-726)Cca>Tca	p.P242S	COPB2_ENST00000507777.1_Missense_Mutation_p.P213S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	242					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.P242S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATAATGATTGGCAACTCAGGA	0.388																																					p.P242S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	3						.						187.0	170.0	176.0					3																	139093358		2203	4300	6503	140576048	SO:0001583	missense	9276	exon7			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.724C>T	3.37:g.139093358G>A	ENSP00000329419:p.Pro242Ser	Somatic		Capture	Illumina HiSeq	Phase_I	140576048	NM_004766	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392297	0.95988	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.60797	0.16;0.16	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	L	0.35341	1.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.70821	-0.4768	10	0.72032	D	0.01	-13.5269	19.7965	0.96487	0.0:0.0:1.0:0.0	.	242;242	B4E2C9;P35606	.;COPB2_HUMAN	S	242;213	ENSP00000329419:P242S;ENSP00000422295:P213S	ENSP00000329419:P242S	P	-	1	0	COPB2	140576048	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.418000	0.97395	2.774000	0.95407	0.655000	0.94253	CCA		0.388	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
RBP2	5948	broad.mit.edu	37	3	139181100	139181100	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:139181100G>A	ENST00000232217.2	-	2	162	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	36					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.R36C(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TGAGTGAGACGTACTGCAATC	0.428																																					p.R36C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106T	3						.						210.0	178.0	189.0					3																	139181100		2203	4300	6503	140663790	SO:0001583	missense	5948	exon2			U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.106C>T	3.37:g.139181100G>A	ENSP00000232217:p.Arg36Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140663790	NM_004164	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040546	0.35989	.	.	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.08102	3.13;3.13	5.9	5.02	0.67125	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.869808	0.10409	N	0.678218	T	0.08179	0.0204	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26430	-1.0103	10	0.66056	D	0.02	.	11.0267	0.47748	0.1419:0.0:0.8581:0.0	.	36	P50120	RET2_HUMAN	C	36	ENSP00000232217:R36C;ENSP00000424333:R36C	ENSP00000232217:R36C	R	-	1	0	RBP2	140663790	0.062000	0.20869	0.003000	0.11579	0.545000	0.35147	2.398000	0.44486	1.498000	0.48600	0.650000	0.86243	CGT		0.428	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164	
ZBTB38	253461	broad.mit.edu	37	3	141163257	141163257	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:141163257C>A	ENST00000514251.1	+	4	2306	c.2027C>A	c.(2026-2028)tCt>tAt	p.S676Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S676Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S677Y					zinc finger and BTB domain containing 38									p.S676Y(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGTCAGTTTCTTCCACTGAA	0.443																																					p.S676Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2027A	3						.						87.0	88.0	88.0					3																	141163257		1939	4125	6064	142645947	SO:0001583	missense	253461	exon8			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2027C>A	3.37:g.141163257C>A	ENSP00000426387:p.Ser676Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	142645947	NM_001080412		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813835	0.70912	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.12255	3.12;2.7;2.7;2.7	5.55	5.55	0.83447	.	0.461003	0.21151	N	0.079333	T	0.17238	0.0414	L	0.29908	0.895	0.28308	N	0.922793	P;P	0.49447	0.924;0.924	P;P	0.50231	0.635;0.635	T	0.03773	-1.1005	9	.	.	.	-7.6189	14.3574	0.66748	0.148:0.852:0.0:0.0	.	677;676	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	676;676;676;677	ENSP00000424254:S676Y;ENSP00000426387:S676Y;ENSP00000406955:S676Y;ENSP00000372635:S677Y	.	S	+	2	0	ZBTB38	142645947	0.811000	0.29063	0.314000	0.25224	0.909000	0.53808	2.748000	0.47483	2.603000	0.88011	0.650000	0.86243	TCT		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2		
RASA2	5922	broad.mit.edu	37	3	141305533	141305533	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:141305533G>T	ENST00000452898.1	+	19	1907	c.1872G>T	c.(1870-1872)aaG>aaT	p.K624N	RASA2_ENST00000286364.3_Missense_Mutation_p.K624N|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	624	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.K624N(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTGGAAAAAAGAATTTTAAGA	0.358																																					p.K624N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1872T	3						.						55.0	59.0	58.0					3																	141305533		2203	4300	6503	142788223	SO:0001583	missense	5922	exon19			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1872G>T	3.37:g.141305533G>T	ENSP00000391677:p.Lys624Asn	Somatic		Capture	Illumina HiSeq	Phase_I	142788223	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.094154	0.76870	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.77358	-1.09;-1.09	5.42	4.53	0.55603	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	M	0.92122	3.275	0.58432	D	0.999996	D;P;P;P	0.76494	0.999;0.937;0.922;0.937	D;P;P;P	0.85130	0.997;0.861;0.781;0.861	D	0.91246	0.5025	10	0.51188	T	0.08	.	15.0672	0.72005	0.0718:0.0:0.9282:0.0	.	216;624;624;624	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	N	624;624;216	ENSP00000286364:K624N;ENSP00000391677:K624N	ENSP00000286364:K624N	K	+	3	2	RASA2	142788223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.111000	0.57838	2.711000	0.92665	0.655000	0.94253	AAG		0.358	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506	
TFDP2	7029	broad.mit.edu	37	3	141693008	141693008	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:141693008C>T	ENST00000489671.1	-	8	975	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	TFDP2_ENST00000477292.1_Missense_Mutation_p.R46Q|TFDP2_ENST00000397991.4_Missense_Mutation_p.R154Q|TFDP2_ENST00000310282.6_Missense_Mutation_p.R122Q|TFDP2_ENST00000499676.2_Missense_Mutation_p.R122Q|TFDP2_ENST00000486111.1_Missense_Mutation_p.R122Q|TFDP2_ENST00000317104.7_Missense_Mutation_p.R106Q|TFDP2_ENST00000479040.1_Missense_Mutation_p.R121Q|TFDP2_ENST00000495310.1_Missense_Mutation_p.R85Q|TFDP2_ENST00000467072.1_Missense_Mutation_p.R122Q			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	182					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R182Q(1)		kidney(1)|upper_aerodigestive_tract(2)	3						ATAAACTCTTCGCCTAATGTT	0.328																																					p.R85Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254A	3						.						92.0	86.0	88.0					3																	141693008		1832	4092	5924	143175698	SO:0001583	missense	7029	exon5			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.545G>A	3.37:g.141693008C>T	ENSP00000420616:p.Arg182Gln	Somatic		Capture	Illumina HiSeq	Phase_I	143175698	NM_001178141	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	C	36	5.789989	0.96945	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.76186	-0.01;-0.11;-0.01;-0.89;-1.0;-0.01;0.04;-0.01;-0.03;-0.11;-0.03;-0.03	5.77	5.77	0.91146	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.91341	0.7269	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.99	D	0.93388	0.6749	10	0.87932	D	0	-3.7926	19.9944	0.97379	0.0:1.0:0.0:0.0	.	85;182;122	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	Q	122;182;122;46;85;122;106;122;121;154;122;96;121	ENSP00000439782:R122Q;ENSP00000420616:R182Q;ENSP00000420599:R122Q;ENSP00000418971:R46Q;ENSP00000419036:R85Q;ENSP00000418590:R122Q;ENSP00000315668:R106Q;ENSP00000309622:R122Q;ENSP00000417585:R121Q;ENSP00000381078:R154Q;ENSP00000417726:R122Q;ENSP00000417220:R121Q	ENSP00000309622:R122Q	R	-	2	0	TFDP2	143175698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.679000	0.84048	2.720000	0.93068	0.557000	0.71058	CGA		0.328	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	
XRN1	54464	broad.mit.edu	37	3	142139906	142139906	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142139906A>C	ENST00000264951.4	-	10	1242	c.1125T>G	c.(1123-1125)ggT>ggG	p.G375G	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000463916.1_Silent_p.G375G|XRN1_ENST00000544157.1_Silent_p.G165G|XRN1_ENST00000392981.2_Silent_p.G375G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	375					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G375G(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGCTGCGACACCTGCTGCTT	0.378																																					p.G375G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1125G	3						.						143.0	152.0	149.0					3																	142139906		2203	4300	6503	143622596	SO:0001819	synonymous_variant	54464	exon10			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1125T>G	3.37:g.142139906A>C		Somatic		Capture	Illumina HiSeq	Phase_I	143622596	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.378	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
XRN1	54464	broad.mit.edu	37	3	142145605	142145605	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142145605A>C	ENST00000264951.4	-	3	504	c.387T>G	c.(385-387)gaT>gaG	p.D129E	XRN1_ENST00000463916.1_Missense_Mutation_p.D129E|XRN1_ENST00000544157.1_Intron|XRN1_ENST00000392981.2_Missense_Mutation_p.D129E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	129					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D129E(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACAGTTGGAATCAAATCTGG	0.328																																					p.D129E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T387G	3						.						168.0	164.0	165.0					3																	142145605		2203	4300	6503	143628295	SO:0001583	missense	54464	exon3			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.387T>G	3.37:g.142145605A>C	ENSP00000264951:p.Asp129Glu	Somatic		Capture	Illumina HiSeq	Phase_I	143628295	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129447	0.77549	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.58652	0.33;0.32	5.68	2.0	0.26442	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	H	0.94847	3.59	0.80722	D	1	P;D;D	0.89917	0.944;1.0;1.0	P;D;D	0.91635	0.735;0.999;0.999	T	0.81433	-0.0935	10	0.87932	D	0	-24.0787	9.8542	0.41075	0.7202:0.0:0.2798:0.0	.	129;129;129	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	E	129	ENSP00000264951:D129E;ENSP00000376707:D129E	ENSP00000264951:D129E	D	-	3	2	XRN1	143628295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.422000	0.44696	0.519000	0.28406	0.482000	0.46254	GAT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
ATR	545	broad.mit.edu	37	3	142231148	142231148	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142231148C>A	ENST00000350721.4	-	27	4927	c.4806G>T	c.(4804-4806)gaG>gaT	p.E1602D	ATR_ENST00000383101.3_Missense_Mutation_p.E1538D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1602					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1602D(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGGACATTTCTCAGCTTTCA	0.388								Other conserved DNA damage response genes																													p.E1602D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4806T	3						.						200.0	176.0	184.0					3																	142231148		2203	4300	6503	143713838	SO:0001583	missense	545	exon27			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4806G>T	3.37:g.142231148C>A	ENSP00000343741:p.Glu1602Asp	Somatic		Capture	Illumina HiSeq	Phase_I	143713838	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	9.528	1.110128	0.20714	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03301	3.98;3.99	5.06	1.63	0.23807	.	0.838282	0.10893	N	0.622436	T	0.03564	0.0102	L	0.47716	1.5	0.31434	N	0.67275	B	0.02656	0.0	B	0.04013	0.001	T	0.33599	-0.9862	10	0.19147	T	0.46	-5.3487	4.0567	0.09819	0.1229:0.5659:0.1363:0.175	.	1602	Q13535	ATR_HUMAN	D	1602;1538	ENSP00000343741:E1602D;ENSP00000372581:E1538D	ENSP00000343741:E1602D	E	-	3	2	ATR	143713838	0.947000	0.32204	0.995000	0.50966	0.658000	0.38924	-0.005000	0.12855	0.475000	0.27415	0.460000	0.39030	GAG		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142281714	142281714	+	Missense_Mutation	SNP	C	C	T	rs532495501		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142281714C>T	ENST00000350721.4	-	4	651	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	ATR_ENST00000383101.3_Missense_Mutation_p.R177Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	177					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R177Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTTAAAAATCGGCTCATGAC	0.348								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		18365	0.0		0.0	False		,,,				2504	0.001				p.R177Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	3						.						75.0	78.0	77.0					3																	142281714		2203	4299	6502	143764404	SO:0001583	missense	545	exon4			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.530G>A	3.37:g.142281714C>T	ENSP00000343741:p.Arg177Gln	Somatic		Capture	Illumina HiSeq	Phase_I	143764404	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587989	0.46110	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04015	3.89;3.73	5.78	2.07	0.26955	Armadillo-type fold (1);	0.434585	0.21777	N	0.069272	T	0.05868	0.0153	M	0.63428	1.95	0.20764	N	0.99986	P	0.36315	0.547	B	0.29716	0.106	T	0.20405	-1.0276	10	0.51188	T	0.08	-0.0438	10.2687	0.43470	0.0:0.737:0.0:0.263	.	177	Q13535	ATR_HUMAN	Q	177	ENSP00000343741:R177Q;ENSP00000372581:R177Q	ENSP00000343741:R177Q	R	-	2	0	ATR	143764404	0.923000	0.31300	0.041000	0.18516	0.884000	0.51177	2.621000	0.46418	0.104000	0.17725	0.591000	0.81541	CGA		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142284984	142284984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142284984C>A	ENST00000350721.4	-	3	392	c.271G>T	c.(271-273)Gag>Tag	p.E91*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E91*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	91					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E91*(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTTGGCCTCATGGCTTCCA	0.403								Other conserved DNA damage response genes																													p.E91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G271T	3						.						110.0	103.0	105.0					3																	142284984		2203	4300	6503	143767674	SO:0001587	stop_gained	545	exon3			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.271G>T	3.37:g.142284984C>A	ENSP00000343741:p.Glu91*	Somatic		Capture	Illumina HiSeq	Phase_I	143767674	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167189	0.78339	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.44	5.44	0.79542	.	0.059725	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.7771	18.8436	0.92194	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000343741:E91X	E	-	1	0	ATR	143767674	0.180000	0.23148	0.998000	0.56505	0.967000	0.64934	0.859000	0.27858	2.542000	0.85734	0.563000	0.77884	GAG		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
TRPC1	7220	broad.mit.edu	37	3	142509908	142509908	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142509908G>T	ENST00000476941.1	+	8	1831	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D415Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	449					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.D415Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGGGTTGGAAGACTTTTTAGA	0.343																																					p.D415Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1243T	3						.						135.0	142.0	140.0					3																	142509908		2203	4300	6503	143992598	SO:0001583	missense	7220	exon7			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1345G>T	3.37:g.142509908G>T	ENSP00000419313:p.Asp449Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	143992598	NM_003304	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280673	0.80692	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98419	-4.92;-4.92	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	L	0.43152	1.355	0.80722	D	1	P;P;B	0.47484	0.896;0.896;0.014	P;P;B	0.54210	0.745;0.745;0.039	D	0.97891	1.0297	10	0.87932	D	0	-22.0863	13.5328	0.61631	0.0744:0.0:0.9256:0.0	.	415;449;415	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	Y	449;415;16	ENSP00000419313:D449Y;ENSP00000273482:D415Y	ENSP00000273482:D415Y	D	+	1	0	TRPC1	143992598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.537000	0.85549	0.555000	0.69702	GAC		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
TRPC1	7220	broad.mit.edu	37	3	142522907	142522907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142522907G>T	ENST00000476941.1	+	11	2332	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Nonsense_Mutation_p.E582*	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	616					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.E582*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTATGGAGAAGAACTGCAGTC	0.423																																					p.E582X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1744T	3						.						170.0	150.0	157.0					3																	142522907		2203	4300	6503	144005597	SO:0001587	stop_gained	7220	exon10			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1846G>T	3.37:g.142522907G>T	ENSP00000419313:p.Glu616*	Somatic		Capture	Illumina HiSeq	Phase_I	144005597	NM_003304	Q14CE4	Nonsense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	41	8.790871	0.98956	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.6132	12.721	0.57142	0.0756:0.0:0.9244:0.0	.	.	.	.	X	616;582;135	.	ENSP00000273482:E582X	E	+	1	0	TRPC1	144005597	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.707000	0.84623	2.654000	0.90174	0.650000	0.86243	GAA		0.423	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
PCOLCE2	26577	broad.mit.edu	37	3	142548642	142548642	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142548642C>A	ENST00000295992.3	-	6	1063	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	253	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.D253Y(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAACTTAAGTCTGATAAAAAC	0.358																																					p.D253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757T	3						.						120.0	121.0	120.0					3																	142548642		2203	4300	6503	144031332	SO:0001583	missense	26577	exon6			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.757G>T	3.37:g.142548642C>A	ENSP00000295992:p.Asp253Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	144031332	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480536	0.84747	.	.	ENSG00000163710	ENST00000295992	T	0.41400	1.0	5.31	5.31	0.75309	CUB (5);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.87932	D	0	-35.0678	18.9551	0.92655	0.0:1.0:0.0:0.0	.	253	Q9UKZ9	PCOC2_HUMAN	Y	253	ENSP00000295992:D253Y	ENSP00000295992:D253Y	D	-	1	0	PCOLCE2	144031332	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.248000	0.78268	2.497000	0.84241	0.591000	0.81541	GAC		0.358	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
PCOLCE2	26577	broad.mit.edu	37	3	142606613	142606613	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142606613A>C	ENST00000295992.3	-	2	396	c.90T>G	c.(88-90)gtT>gtG	p.V30V	PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_Silent_p.V30V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	30					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.V30V(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CACATGTGAAAACAGGTCTGG	0.363																																					p.V30V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T90G	3						.						62.0	62.0	62.0					3																	142606613		2203	4300	6503	144089303	SO:0001819	synonymous_variant	26577	exon2			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.90T>G	3.37:g.142606613A>C		Somatic		Capture	Illumina HiSeq	Phase_I	144089303	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	ENST00000295992.3	37	CCDS3127.1																																																																																				0.363	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
CCDC174	51244	broad.mit.edu	37	3	14709010	14709010	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14709010G>T	ENST00000383794.3	+	8	877	c.804G>T	c.(802-804)gaG>gaT	p.E268D	CCDC174_ENST00000303688.7_Intron	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	268						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E268D(1)									AAACCTTAGAGATGCTGCGTG	0.438																																					p.E268D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G804T	3						.						92.0	92.0	92.0					3																	14709010		2203	4300	6503	14684014	SO:0001583	missense	51244	exon8			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.804G>T	3.37:g.14709010G>T	ENSP00000373304:p.Glu268Asp	Somatic		Capture	Illumina HiSeq	Phase_I	14684014	NM_016474	Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	8.043	0.764360	0.15914	.	.	ENSG00000154781	ENST00000383794	T	0.46451	0.87	5.29	1.97	0.26223	.	0.170325	0.49916	D	0.000121	T	0.16769	0.0403	N	0.12422	0.21	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.07328	-1.0778	10	0.15499	T	0.54	-16.8085	0.2613	0.00219	0.3002:0.2016:0.2929:0.2053	.	268	Q6PII3	CC019_HUMAN	D	268	ENSP00000373304:E268D	ENSP00000373304:E268D	E	+	3	2	C3orf19	14684014	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.103000	0.31062	0.581000	0.29539	0.491000	0.48974	GAG		0.438	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474	
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	312						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493																																					p.R190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	3						.						110.0	115.0	113.0					3																	14745900		2203	4300	6503	14720904	SO:0001583	missense	84077	exon7			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.935G>A	3.37:g.14745900G>A	ENSP00000253697:p.Arg312Gln	Somatic		Capture	Illumina HiSeq	Phase_I	14720904	NM_001184958	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327885	0.41197	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09723	3.23;2.95;2.95	4.91	2.8	0.32819	.	0.149471	0.31589	N	0.007385	T	0.07683	0.0193	L	0.34521	1.04	0.23381	N	0.997799	P	0.46952	0.887	B	0.40901	0.343	T	0.23404	-1.0189	10	0.72032	D	0.01	-15.8772	5.0826	0.14664	0.3086:0.0:0.6914:0.0	.	312	Q8ND61	CC020_HUMAN	Q	312;190;190	ENSP00000253697:R312Q;ENSP00000402933:R190Q;ENSP00000396081:R190Q	ENSP00000253697:R312Q	R	+	2	0	C3orf20	14720904	0.748000	0.28294	0.406000	0.26421	0.047000	0.14425	1.386000	0.34419	1.057000	0.40506	0.585000	0.79938	CGA		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
SLC9A9	285195	broad.mit.edu	37	3	142987796	142987796	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142987796G>T	ENST00000316549.6	-	15	1839	c.1631C>A	c.(1630-1632)tCt>tAt	p.S544Y		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	544					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.S544Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGGAGGACCAGAGTGGGTTAA	0.468																																					p.S544Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1631A	3						.						154.0	151.0	152.0					3																	142987796		2203	4300	6503	144470486	SO:0001583	missense	285195	exon15			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1631C>A	3.37:g.142987796G>T	ENSP00000320246:p.Ser544Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	144470486	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800177	0.50208	.	.	ENSG00000181804	ENST00000316549	T	0.58358	0.34	5.69	5.69	0.88448	.	0.240338	0.36854	N	0.002366	T	0.60741	0.2292	M	0.81341	2.54	0.34523	D	0.7084	P	0.38922	0.651	B	0.37833	0.259	T	0.74827	-0.3532	10	0.72032	D	0.01	.	19.8016	0.96509	0.0:0.0:1.0:0.0	.	544	Q8IVB4	SL9A9_HUMAN	Y	544	ENSP00000320246:S544Y	ENSP00000320246:S544Y	S	-	2	0	SLC9A9	144470486	0.947000	0.32204	0.569000	0.28460	0.235000	0.25334	7.103000	0.77014	2.677000	0.91161	0.655000	0.94253	TCT		0.468	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
C3orf20	84077	broad.mit.edu	37	3	14798948	14798948	+	Missense_Mutation	SNP	C	C	T	rs199803083		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14798948C>T	ENST00000253697.3	+	13	2463	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W|C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	671						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R671W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTGGTGCTGCGGAAGCTCAT	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		18903	0.001		0.0	False		,,,				2504	0.0				p.R549W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1645T	3						.						48.0	48.0	48.0					3																	14798948		2203	4300	6503	14773952	SO:0001583	missense	84077	exon13			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2011C>T	3.37:g.14798948C>T	ENSP00000253697:p.Arg671Trp	Somatic		Capture	Illumina HiSeq	Phase_I	14773952	NM_001184958	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.86	2.662677	0.47572	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.26223	2.04;1.75;1.75	4.95	4.05	0.47172	.	0.000000	0.46442	D	0.000294	T	0.48519	0.1504	M	0.76574	2.34	0.38457	D	0.94711	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54735	-0.8249	10	0.87932	D	0	-26.1088	10.4301	0.44403	0.1953:0.8047:0.0:0.0	.	549;671	Q8ND61-2;Q8ND61	.;CC020_HUMAN	W	671;549;549	ENSP00000253697:R671W;ENSP00000402933:R549W;ENSP00000396081:R549W	ENSP00000253697:R671W	R	+	1	2	C3orf20	14773952	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	0.582000	0.23834	1.041000	0.40125	0.297000	0.19635	CGG		0.682	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
FGD5	152273	broad.mit.edu	37	3	14861807	14861807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14861807C>T	ENST00000285046.5	+	1	1339	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	FGD5_ENST00000543601.1_Missense_Mutation_p.A169V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	410					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A169V(1)|p.A410V(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTCCCGCAGCCCCTGATGTG	0.677																																					p.A410V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1229T	3						.						24.0	29.0	27.0					3																	14861807		2037	4165	6202	14836811	SO:0001583	missense	152273	exon1			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1229C>T	3.37:g.14861807C>T	ENSP00000285046:p.Ala410Val	Somatic		Capture	Illumina HiSeq	Phase_I	14836811	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	1.776	-0.483085	0.04383	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.68624	-0.34;-0.19	5.03	3.88	0.44766	.	0.556034	0.16243	N	0.223075	T	0.34687	0.0906	N	0.02539	-0.55	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21895	-1.0232	10	0.02654	T	1	-24.4279	9.9931	0.41883	0.0:0.0815:0.0:0.9185	.	169;410	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	V	410;169	ENSP00000285046:A410V;ENSP00000445949:A169V	ENSP00000285046:A410V	A	+	2	0	FGD5	14836811	0.548000	0.26473	0.144000	0.22314	0.005000	0.04900	1.264000	0.33015	0.773000	0.33404	-0.469000	0.05056	GCC		0.677	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
FGD5	152273	broad.mit.edu	37	3	14862671	14862671	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14862671G>T	ENST00000285046.5	+	1	2203	c.2093G>T	c.(2092-2094)aGa>aTa	p.R698I	FGD5_ENST00000543601.1_Missense_Mutation_p.R457I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	698					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R457I(1)|p.R698I(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTTGACCGGAGAAGCCTCAGC	0.527																																					p.R698I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2093T	3						.						42.0	42.0	42.0					3																	14862671		1892	4118	6010	14837675	SO:0001583	missense	152273	exon1			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2093G>T	3.37:g.14862671G>T	ENSP00000285046:p.Arg698Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14837675	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105267	0.77096	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.79554	-1.28;-1.1	5.03	5.03	0.67393	.	0.105257	0.41712	D	0.000828	D	0.87063	0.6084	M	0.69823	2.125	0.52501	D	0.999953	P;D	0.63046	0.916;0.992	P;P	0.56216	0.649;0.794	D	0.88359	0.2986	10	0.62326	D	0.03	-17.2335	18.7482	0.91802	0.0:0.0:1.0:0.0	.	457;698	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	698;457	ENSP00000285046:R698I;ENSP00000445949:R457I	ENSP00000285046:R698I	R	+	2	0	FGD5	14837675	0.982000	0.34865	0.388000	0.26195	0.796000	0.44982	4.848000	0.62874	2.495000	0.84180	0.591000	0.81541	AGA		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
PLSCR2	57047	broad.mit.edu	37	3	146167085	146167085	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:146167085C>T	ENST00000497985.1	-	8	1211	c.772G>A	c.(772-774)Gca>Aca	p.A258T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A185T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	258					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.A185T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCAGTAAATGCCTCTCTTAAA	0.358																																					p.A185T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553A	3						.						156.0	156.0	156.0					3																	146167085		2203	4300	6503	147649775	SO:0001583	missense	57047	exon7				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.772G>A	3.37:g.146167085C>T	ENSP00000420132:p.Ala258Thr	Somatic		Capture	Illumina HiSeq	Phase_I	147649775	NM_020359	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.566017	0.27915	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.24538	1.85;1.85	3.34	-6.28	0.02020	.	0.569446	0.13012	U	0.420800	T	0.28665	0.0710	M	0.84511	2.7	0.09310	N	1	B;B	0.29136	0.234;0.036	B;B	0.42138	0.377;0.038	T	0.46857	-0.9161	10	0.22706	T	0.39	.	0.7717	0.01025	0.2937:0.2595:0.1014:0.3454	.	278;185	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	185;277;258	ENSP00000338707:A185T;ENSP00000420132:A258T	ENSP00000338707:A185T	A	-	1	0	PLSCR2	147649775	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.479000	0.02327	-1.078000	0.03117	0.563000	0.77884	GCA		0.358	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	
ZIC4	84107	broad.mit.edu	37	3	147108811	147108811	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:147108811G>A	ENST00000383075.3	-	4	1423	c.911C>T	c.(910-912)tCt>tTt	p.S304F	ZIC4_ENST00000484399.1_Missense_Mutation_p.S304F|ZIC4_ENST00000473123.1_Missense_Mutation_p.S304F|ZIC4_ENST00000525172.2_Missense_Mutation_p.S354F|ZIC4_ENST00000491672.1_Missense_Mutation_p.S98F|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S342F	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	304						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S304Y(1)|p.S304F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CACGAGGGCAGACGGTGTAGC	0.682																																					p.S354F												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1061T	3						.						30.0	38.0	35.0					3																	147108811		2166	4281	6447	148591501	SO:0001583	missense	84107	exon4			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.911C>T	3.37:g.147108811G>A	ENSP00000372553:p.Ser304Phe	Somatic		Capture	Illumina HiSeq	Phase_I	148591501	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578629	0.86645	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.12569	2.73;2.67;2.67;2.73;2.73;2.7	4.65	4.65	0.58169	.	0.161882	0.29342	N	0.012436	T	0.22282	0.0537	M	0.62723	1.935	0.52501	D	0.999957	D;P	0.54047	0.964;0.939	P;P	0.47299	0.535;0.543	T	0.33727	-0.9857	9	0.87932	D	0	.	15.071	0.72037	0.0:0.0:1.0:0.0	.	354;304	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	F	304;342;354;304;304;98	ENSP00000372553:S304F;ENSP00000397695:S342F;ENSP00000435509:S354F;ENSP00000417855:S304F;ENSP00000420775:S304F;ENSP00000418277:S98F	ENSP00000372553:S304F	S	-	2	0	ZIC4	148591501	0.999000	0.42202	0.958000	0.39756	0.985000	0.73830	5.528000	0.67129	2.406000	0.81754	0.561000	0.74099	TCT		0.682	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
ZIC4	84107	broad.mit.edu	37	3	147108958	147108958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:147108958G>A	ENST00000383075.3	-	4	1276	c.764C>T	c.(763-765)tCg>tTg	p.S255L	ZIC4_ENST00000484399.1_Missense_Mutation_p.S255L|ZIC4_ENST00000473123.1_Missense_Mutation_p.S255L|ZIC4_ENST00000525172.2_Missense_Mutation_p.S305L|ZIC4_ENST00000491672.1_Missense_Mutation_p.S49L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S293L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	255						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S255L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGCACGTGCGAATGCTTCTT	0.612																																					p.S305L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C914T	3						.						38.0	41.0	40.0					3																	147108958		2201	4300	6501	148591648	SO:0001583	missense	84107	exon4			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.764C>T	3.37:g.147108958G>A	ENSP00000372553:p.Ser255Leu	Somatic		Capture	Illumina HiSeq	Phase_I	148591648	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488042	0.96323	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.13420	3.4;2.59;2.59;3.4;3.4;3.4	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000983	T	0.10981	0.0268	N	0.02412	-0.56	0.47276	D	0.999375	P;D	0.67145	0.81;0.996	B;P	0.50617	0.259;0.646	T	0.46247	-0.9205	9	0.66056	D	0.02	.	18.1785	0.89769	0.0:0.0:1.0:0.0	.	305;255	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	255;293;305;255;255;49	ENSP00000372553:S255L;ENSP00000397695:S293L;ENSP00000435509:S305L;ENSP00000417855:S255L;ENSP00000420775:S255L;ENSP00000418277:S49L	ENSP00000372553:S255L	S	-	2	0	ZIC4	148591648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.126000	0.57937	2.277000	0.76020	0.462000	0.41574	TCG		0.612	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
ZIC1	7545	broad.mit.edu	37	3	147128057	147128057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:147128057C>T	ENST00000282928.4	+	1	887	c.158C>T	c.(157-159)tCg>tTg	p.S53L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AACCCCAGTTCGCACGAGCTG	0.716																																					p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	3						.						29.0	32.0	31.0					3																	147128057		2199	4293	6492	148610747	SO:0001583	missense	7545	exon1			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.158C>T	3.37:g.147128057C>T	ENSP00000282928:p.Ser53Leu	Somatic		Capture	Illumina HiSeq	Phase_I	148610747	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133975	0.37630	.	.	ENSG00000152977	ENST00000282928	T	0.11821	2.74	4.04	3.15	0.36227	.	0.379360	0.27227	N	0.020333	T	0.14141	0.0342	L	0.59436	1.845	0.41114	D	0.98576	B	0.21147	0.052	B	0.23018	0.043	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.1198	0.30965	0.0:0.5613:0.3419:0.0968	.	53	Q15915	ZIC1_HUMAN	L	53	ENSP00000282928:S53L	ENSP00000282928:S53L	S	+	2	0	ZIC1	148610747	0.979000	0.34478	1.000000	0.80357	0.808000	0.45660	2.338000	0.43957	1.806000	0.52798	0.442000	0.29010	TCG		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
FGD5	152273	broad.mit.edu	37	3	14939527	14939527	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14939527C>T	ENST00000285046.5	+	6	3101	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	FGD5_ENST00000543601.1_Silent_p.F756F|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	997	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.F997F(1)|p.F756F(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGCAGTTCGACAGGTACC	0.602																																					p.F997F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2991T	3						.						94.0	100.0	98.0					3																	14939527		2165	4271	6436	14914531	SO:0001819	synonymous_variant	152273	exon6			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2991C>T	3.37:g.14939527C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14914531	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402106	0.25291	.	.	ENSG00000154783	ENST00000457774	.	.	.	5.0	-3.12	0.05282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0534	10.8053	0.46514	0.0:0.2213:0.0:0.7787	.	.	.	.	X	181	.	.	R	+	1	2	FGD5	14914531	0.995000	0.38212	0.984000	0.44739	0.957000	0.61999	0.098000	0.15189	-0.505000	0.06568	0.591000	0.81541	CGA		0.602	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
ZIC1	7545	broad.mit.edu	37	3	147128870	147128870	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:147128870G>T	ENST00000282928.4	+	1	1700	c.971G>T	c.(970-972)aGg>aTg	p.R324M		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	324					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R324M(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ATCCACAAAAGGACGCACACA	0.597																																					p.R324M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971T	3						.						43.0	45.0	44.0					3																	147128870		2203	4300	6503	148611560	SO:0001583	missense	7545	exon1			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.971G>T	3.37:g.147128870G>T	ENSP00000282928:p.Arg324Met	Somatic		Capture	Illumina HiSeq	Phase_I	148611560	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825788	0.71143	.	.	ENSG00000152977	ENST00000282928	T	0.25579	1.79	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57027	-0.7881	10	0.87932	D	0	.	16.2006	0.82071	0.0:0.0:1.0:0.0	.	324	Q15915	ZIC1_HUMAN	M	324	ENSP00000282928:R324M	ENSP00000282928:R324M	R	+	2	0	ZIC1	148611560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.510000	0.98004	1.862000	0.54008	0.561000	0.74099	AGG		0.597	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
AGTR1	185	broad.mit.edu	37	3	148459849	148459849	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:148459849G>T	ENST00000497524.1	+	2	1418	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	AGTR1_ENST00000475347.1_Missense_Mutation_p.D343Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.D343Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.D343Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.D343Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.D343Y|AGTR1_ENST00000542281.1_Missense_Mutation_p.D343Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.D343Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.D343Y	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	343					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.D343Y(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCCCTCAGATAATGTAAG	0.403																																					p.D343Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027T	3						.						78.0	79.0	79.0					3																	148459849		2167	4288	6455	149942539	SO:0001583	missense	185	exon3			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.1027G>T	3.37:g.148459849G>T	ENSP00000419422:p.Asp343Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149942539	NM_000685	Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400312	0.25291	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.53	5.53	0.82687	.	0.239675	0.41823	D	0.000809	T	0.59155	0.2173	L	0.55481	1.735	0.54753	D	0.999986	P	0.42556	0.783	B	0.42361	0.385	T	0.57700	-0.7766	10	0.34782	T	0.22	-2.1755	19.4623	0.94922	0.0:0.0:1.0:0.0	.	343	P30556	AGTR1_HUMAN	Y	343	ENSP00000419422:D343Y;ENSP00000273430:D343Y;ENSP00000443186:D343Y;ENSP00000398832:D343Y;ENSP00000385612:D343Y;ENSP00000419783:D343Y;ENSP00000418084:D343Y;ENSP00000418851:D343Y;ENSP00000385641:D343Y	ENSP00000273430:D343Y	D	+	1	0	AGTR1	149942539	1.000000	0.71417	0.100000	0.21137	0.232000	0.25224	9.209000	0.95087	2.591000	0.87537	0.650000	0.86243	GAT		0.403	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
HLTF	6596	broad.mit.edu	37	3	148756855	148756855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:148756855C>T	ENST00000310053.5	-	23	2970	c.2777G>A	c.(2776-2778)cGa>cAa	p.R926Q	HLTF_ENST00000465259.1_Missense_Mutation_p.R925Q|HLTF_ENST00000392912.2_Missense_Mutation_p.R926Q|HLTF_ENST00000494055.1_Missense_Mutation_p.R926Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	926	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R926Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAAAACACTCGAGAAGCTGC	0.333																																					p.R926Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2777A	3						.						63.0	65.0	64.0					3																	148756855		2203	4300	6503	150239545	SO:0001583	missense	6596	exon23			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2777G>A	3.37:g.148756855C>T	ENSP00000308944:p.Arg926Gln	Somatic		Capture	Illumina HiSeq	Phase_I	150239545	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166060	0.78339	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.98	5.98	0.97165	Helicase, C-terminal (3);	.	.	.	.	T	0.81460	0.4827	L	0.49640	1.575	0.41269	D	0.98683	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67900	0.954;0.954;0.954	T	0.77525	-0.2555	9	0.27082	T	0.32	-11.4231	15.906	0.79430	0.1358:0.8642:0.0:0.0	.	926;926;926	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	925;926;926;926;394	ENSP00000420745:R925Q;ENSP00000308944:R926Q;ENSP00000376644:R926Q;ENSP00000420429:R926Q;ENSP00000420106:R394Q	ENSP00000308944:R926Q	R	-	2	0	HLTF	150239545	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.337000	0.33862	2.835000	0.97688	0.650000	0.86243	CGA		0.333	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HLTF	6596	broad.mit.edu	37	3	148759356	148759356	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:148759356G>T	ENST00000310053.5	-	20	2490	c.2297C>A	c.(2296-2298)tCt>tAt	p.S766Y	HLTF_ENST00000465259.1_Missense_Mutation_p.S765Y|HLTF_ENST00000392912.2_Missense_Mutation_p.S766Y|HLTF_ENST00000494055.1_Missense_Mutation_p.S766Y	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	766					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S766Y(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AACTGTTAAAGAATCCAGGCA	0.373																																					p.S766Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2297A	3						.						159.0	153.0	155.0					3																	148759356		2203	4300	6503	150242046	SO:0001583	missense	6596	exon20			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2297C>A	3.37:g.148759356G>T	ENSP00000308944:p.Ser766Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	150242046	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735563	0.89482	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.84999	0.5597	N	0.12471	0.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.87028	0.2133	9	0.62326	D	0.03	-18.1447	20.1857	0.98214	0.0:0.0:1.0:0.0	.	766;766;766	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Y	765;766;766;766;234	ENSP00000420745:S765Y;ENSP00000308944:S766Y;ENSP00000376644:S766Y;ENSP00000420429:S766Y;ENSP00000420106:S234Y	ENSP00000308944:S766Y	S	-	2	0	HLTF	150242046	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.987000	0.93497	2.868000	0.98415	0.557000	0.71058	TCT		0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
COMMD2	51122	broad.mit.edu	37	3	149459469	149459469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:149459469C>T	ENST00000473414.1	-	5	493	c.439G>A	c.(439-441)Gca>Aca	p.A147T		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	147	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.A147T(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATAGTCACTGCTGGTTTAATC	0.378																																					p.A147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	3						.						213.0	216.0	215.0					3																	149459469		2203	4300	6503	150942159	SO:0001583	missense	51122	exon5			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.439G>A	3.37:g.149459469C>T	ENSP00000419475:p.Ala147Thr	Somatic		Capture	Illumina HiSeq	Phase_I	150942159	NM_016094	Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172623	0.38413	.	.	ENSG00000114744	ENST00000473414	T	0.08720	3.06	5.76	0.357	0.16079	COMM domain (1);	0.412136	0.28853	N	0.013921	T	0.02156	0.0067	N	0.03948	-0.315	0.24720	N	0.993155	B	0.15473	0.013	B	0.08055	0.003	T	0.42310	-0.9459	10	0.02654	T	1	-27.9333	2.7161	0.05188	0.4516:0.3041:0.1019:0.1423	.	147	Q86X83	COMD2_HUMAN	T	147	ENSP00000419475:A147T	ENSP00000419475:A147T	A	-	1	0	COMMD2	150942159	0.004000	0.15560	0.983000	0.44433	0.999000	0.98932	-0.048000	0.11944	-0.233000	0.09797	0.655000	0.94253	GCA		0.378	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094	
EIF2A	83939	broad.mit.edu	37	3	150289802	150289802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150289802C>T	ENST00000460851.1	+	10	978	c.869C>T	c.(868-870)gCt>gTt	p.A290V	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.A285V|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.A76V|EIF2A_ENST00000406576.3_Missense_Mutation_p.A229V|EIF2A_ENST00000487799.1_Missense_Mutation_p.A265V			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	290					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.A265V(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGTTTTGTGCTGTATATGGT	0.358																																					p.A290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	3						.						83.0	78.0	79.0					3																	150289802		1837	4093	5930	151772492	SO:0001583	missense	83939	exon10			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.869C>T	3.37:g.150289802C>T	ENSP00000417229:p.Ala290Val	Somatic		Capture	Illumina HiSeq	Phase_I	151772492	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	C	3.902	-0.021848	0.07634	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.50548	2.33;1.75;0.74;3.38;1.77	5.98	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);	0.114743	0.64402	N	0.000010	T	0.09113	0.0225	N	0.00050	-2.405	0.42273	D	0.992064	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.004;0.005;0.001	T	0.32929	-0.9888	10	0.02654	T	1	-13.0136	8.9278	0.35652	0.0:0.7227:0.0:0.2773	.	229;265;290	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	V	265;290;229;285;76	ENSP00000420537:A265V;ENSP00000417229:A290V;ENSP00000385292:A229V;ENSP00000273435:A285V;ENSP00000372513:A76V	ENSP00000273435:A285V	A	+	2	0	EIF2A	151772492	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	2.378000	0.44309	0.877000	0.35895	-0.140000	0.14226	GCT		0.358	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
ERICH6	131831	broad.mit.edu	37	3	150377687	150377687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150377687C>A	ENST00000295910.6	-	14	2036	c.1984G>T	c.(1984-1986)Gaa>Taa	p.E662*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.E516*	NM_152394.3	NP_689607.2												p.E662*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTAAATTTCTTCATTTATT	0.313																																					p.E662X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1984T	3						.						48.0	52.0	50.0					3																	150377687		2198	4295	6493	151860377	SO:0001587	stop_gained	131831	exon14																														ENST00000295910.6:c.1984G>T	3.37:g.150377687C>A	ENSP00000295910:p.Glu662*	Somatic		Capture	Illumina HiSeq	Phase_I	151860377	NM_152394		Nonsense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387750	0.61956	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	.	.	.	5.22	-5.33	0.02713	.	1.979650	0.02111	N	0.054840	.	.	.	.	.	.	0.21984	N	0.999437	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.2514	1.1687	0.01821	0.2595:0.3426:0.1328:0.265	.	.	.	.	X	662;516;620	.	ENSP00000295910:E662X	E	-	1	0	FAM194A	151860377	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-0.081000	0.11321	-0.445000	0.07159	-1.118000	0.02043	GAA		0.313	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
SIAH2	6478	broad.mit.edu	37	3	150459937	150459937	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150459937A>C	ENST00000312960.3	-	2	1493	c.966T>G	c.(964-966)tgT>tgG	p.C322W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	322	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C322W(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCATGGACAACATGTAGAAA	0.368																																					p.C322W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T966G	3						.						73.0	71.0	72.0					3																	150459937		2203	4300	6503	151942627	SO:0001583	missense	6478	exon2			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.966T>G	3.37:g.150459937A>C	ENSP00000322457:p.Cys322Trp	Somatic		Capture	Illumina HiSeq	Phase_I	151942627	NM_005067	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288331	0.59976	.	.	ENSG00000181788	ENST00000312960	.	.	.	5.81	-0.808	0.10868	TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.63528	-0.6617	9	0.87932	D	0	.	11.6702	0.51396	0.5688:0.0:0.4312:0.0	.	322	O43255	SIAH2_HUMAN	W	322	.	ENSP00000322457:C322W	C	-	3	2	SIAH2	151942627	1.000000	0.71417	0.962000	0.40283	0.962000	0.63368	1.275000	0.33144	-0.127000	0.11661	0.482000	0.46254	TGT		0.368	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
MED12L	116931	broad.mit.edu	37	3	150877856	150877856	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150877856C>T	ENST00000474524.1	+	7	1113	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	MED12L_ENST00000309237.4_Missense_Mutation_p.P359S|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.P359S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	359						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P359S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGCATGGTCCCCTGGTTTA	0.527																																					p.P359S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	3						.						106.0	109.0	108.0					3																	150877856		2203	4300	6503	152360546	SO:0001583	missense	116931	exon7			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1075C>T	3.37:g.150877856C>T	ENSP00000417235:p.Pro359Ser	Somatic		Capture	Illumina HiSeq	Phase_I	152360546	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872682	0.72180	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.28454	1.61;1.61;1.61	5.56	5.56	0.83823	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.998;0.994	T	0.52616	-0.8552	10	0.87932	D	0	-19.6878	19.136	0.93428	0.0:1.0:0.0:0.0	.	359;359;359	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	S	359	ENSP00000403308:P359S;ENSP00000310760:P359S;ENSP00000417235:P359S	ENSP00000310760:P359S	P	+	1	0	MED12L	152360546	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.082000	0.76851	2.614000	0.88457	0.561000	0.74099	CCC		0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
GPR171	29909	broad.mit.edu	37	3	150917010	150917010	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150917010T>G	ENST00000309180.5	-	3	394	c.164A>C	c.(163-165)aAt>aCt	p.N55T	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	55					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)	p.N55T(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAAGCAAATTAATTAAGTA	0.393																																					p.N55T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164C	3						.						82.0	80.0	81.0					3																	150917010		2203	4300	6503	152399700	SO:0001583	missense	29909	exon3			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.164A>C	3.37:g.150917010T>G	ENSP00000308479:p.Asn55Thr	Somatic		Capture	Illumina HiSeq	Phase_I	152399700	NM_013308	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075310	0.55646	.	.	ENSG00000174946	ENST00000309180	T	0.50277	0.75	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.73962	2.25	0.47153	D	0.999334	D	0.89917	1.0	D	0.77557	0.99	T	0.73235	-0.4047	10	0.87932	D	0	-17.4935	15.6969	0.77506	0.0:0.0:0.0:1.0	.	55	O14626	GP171_HUMAN	T	55	ENSP00000308479:N55T	ENSP00000308479:N55T	N	-	2	0	GPR171	152399700	1.000000	0.71417	0.032000	0.17829	0.362000	0.29581	7.197000	0.77814	2.108000	0.64289	0.533000	0.62120	AAT		0.393	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308	
IGSF10	285313	broad.mit.edu	37	3	151163824	151163824	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:151163824T>G	ENST00000282466.3	-	4	3944	c.3945A>C	c.(3943-3945)caA>caC	p.Q1315H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1315					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.Q1315H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTATTGCTGTTTGCGTTGATA	0.423																																					p.Q1315H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3945C	3						.						358.0	327.0	338.0					3																	151163824		2203	4300	6503	152646514	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3945A>C	3.37:g.151163824T>G	ENSP00000282466:p.Gln1315His	Somatic		Capture	Illumina HiSeq	Phase_I	152646514	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	7.435	0.639538	0.14386	.	.	ENSG00000152580	ENST00000282466	T	0.68181	-0.31	3.53	-3.34	0.04943	.	0.872407	0.09671	N	0.771169	T	0.45498	0.1345	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22836	-1.0205	10	0.33141	T	0.24	.	8.1217	0.30976	0.0:0.5974:0.1664:0.2362	.	1315	Q6WRI0	IGS10_HUMAN	H	1315	ENSP00000282466:Q1315H	ENSP00000282466:Q1315H	Q	-	3	2	IGSF10	152646514	0.113000	0.22115	0.000000	0.03702	0.007000	0.05969	1.265000	0.33027	-0.674000	0.05253	-0.353000	0.07706	CAA		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
METTL6	131965	broad.mit.edu	37	3	15452930	15452930	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15452930G>T	ENST00000443029.1	-	6	928	c.688C>A	c.(688-690)Ctc>Atc	p.L230I	METTL6_ENST00000383790.3_Missense_Mutation_p.L230I|METTL6_ENST00000450816.2_Missense_Mutation_p.L185I			Q8TCB7	METL6_HUMAN	methyltransferase like 6	230							methyltransferase activity (GO:0008168)	p.L230I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCCATAAAGAGCTGAGCCAGG	0.438																																					p.L230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688A	3						.						103.0	95.0	97.0					3																	15452930		1912	4118	6030	15427934	SO:0001583	missense	131965	exon6			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.688C>A	3.37:g.15452930G>T	ENSP00000407613:p.Leu230Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15427934	NM_152396	Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592716	0.86953	.	.	ENSG00000206562	ENST00000383790;ENST00000450816	T;T	0.18657	3.53;2.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	L	0.60845	1.875	0.80722	D	1	P;D	0.54207	0.937;0.965	D;P	0.67382	0.951;0.751	T	0.05616	-1.0874	10	0.33940	T	0.23	-10.8312	18.8723	0.92320	0.0:0.0:1.0:0.0	.	185;230	B4DDX3;Q8TCB7	.;METL6_HUMAN	I	230;185	ENSP00000373300:L230I;ENSP00000410726:L185I	ENSP00000373300:L230I	L	-	1	0	METTL6	15427934	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	7.756000	0.85195	2.565000	0.86533	0.555000	0.69702	CTC		0.438	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
METTL6	131965	broad.mit.edu	37	3	15455573	15455573	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15455573A>C	ENST00000443029.1	-	5	868	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	METTL6_ENST00000383790.3_Missense_Mutation_p.F210V|METTL6_ENST00000450816.2_Missense_Mutation_p.F165V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	210							methyltransferase activity (GO:0008168)	p.F210V(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CTAACATAAAAGTTTTCTCCA	0.343																																					p.F210V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T628G	3						.						114.0	108.0	110.0					3																	15455573		1867	4110	5977	15430577	SO:0001583	missense	131965	exon5			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.628T>G	3.37:g.15455573A>C	ENSP00000407613:p.Phe210Val	Somatic		Capture	Illumina HiSeq	Phase_I	15430577	NM_152396	Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.2|29.2	4.989588|4.989588	0.93106|0.93106	.|.	.|.	ENSG00000206562|ENSG00000206562	ENST00000383790;ENST00000450816|ENST00000458728	T;T|.	0.04015|.	3.73;3.73|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86322|0.86322	0.5905|0.5905	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.97|.	D;P|.	0.73380|.	0.98;0.665|.	D|D	0.89829|0.89829	0.3994|0.3994	10|5	0.66056|.	D|.	0.02|.	-18.1788|-18.1788	16.0504|16.0504	0.80755|0.80755	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	165;210|.	B4DDX3;Q8TCB7|.	.;METL6_HUMAN|.	V|R	210;165|78	ENSP00000373300:F210V;ENSP00000410726:F165V|.	ENSP00000373300:F210V|.	F|L	-|-	1|2	0|0	METTL6|METTL6	15430577|15430577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.450000|7.450000	0.80656|0.80656	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	TTT|CTT		0.343	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
METTL6	131965	broad.mit.edu	37	3	15466510	15466510	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15466510G>T	ENST00000443029.1	-	3	552	c.312C>A	c.(310-312)atC>atA	p.I104I	METTL6_ENST00000383790.3_Silent_p.I104I|METTL6_ENST00000383789.5_Silent_p.I104I|EAF1_ENST00000432764.2_5'Flank|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6	104							methyltransferase activity (GO:0008168)	p.I104I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATAGGCAAAGATATTCGGAT	0.403																																					p.I104I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312A	3						.						119.0	110.0	113.0					3																	15466510		1867	4110	5977	15441514	SO:0001819	synonymous_variant	131965	exon3			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.312C>A	3.37:g.15466510G>T		Somatic		Capture	Illumina HiSeq	Phase_I	15441514	NM_152396	Q96LU4	Silent	SNP	ENST00000443029.1	37	CCDS43056.1																																																																																				0.403	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
METTL6	131965	broad.mit.edu	37	3	15467851	15467851	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15467851G>T	ENST00000443029.1	-	2	408	c.168C>A	c.(166-168)ttC>ttA	p.F56L	METTL6_ENST00000383790.3_Missense_Mutation_p.F56L|METTL6_ENST00000383789.5_Missense_Mutation_p.F56L|EAF1_ENST00000432764.2_5'Flank|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Missense_Mutation_p.F56L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	56							methyltransferase activity (GO:0008168)	p.F56L(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TGTCTTTGAAGAAATTAGTGC	0.363																																					p.F56L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C168A	3						.						157.0	143.0	147.0					3																	15467851		1845	4092	5937	15442855	SO:0001583	missense	131965	exon2			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.168C>A	3.37:g.15467851G>T	ENSP00000407613:p.Phe56Leu	Somatic		Capture	Illumina HiSeq	Phase_I	15442855	NM_152396	Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328892	0.81690	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.66280	-0.2;-0.2;-0.2	5.54	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	H	0.95328	3.655	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.81364	-0.0966	10	0.87932	D	0	-13.8253	7.2447	0.26115	0.3772:0.0:0.6228:0.0	.	56;56;56	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	L	56	ENSP00000373300:F56L;ENSP00000410726:F56L;ENSP00000373299:F56L	ENSP00000373299:F56L	F	-	3	2	METTL6	15442855	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.384000	0.52478	0.404000	0.25506	0.650000	0.86243	TTC		0.363	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
MBNL1	4154	broad.mit.edu	37	3	152173347	152173347	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:152173347G>T	ENST00000463374.1	+	7	1526				MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.M326I|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000492948.1_Missense_Mutation_p.M326I|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.M287I|MBNL1_ENST00000545754.1_Missense_Mutation_p.M258I|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.M326I|MBNL1_ENST00000355460.2_Intron|RP11-362A9.3_ENST00000463255.1_RNA	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M258I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATTGTGCATGACACCCGCTA	0.413																																					p.M258I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	3						.						240.0	211.0	221.0					3																	152173347		2203	4300	6503	153656037	SO:0001627	intron_variant	4154	exon5			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1016-709G>T	3.37:g.152173347G>T		Somatic		Capture	Illumina HiSeq	Phase_I	153656037	NM_207295	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822215	0.71028	.	.	ENSG00000152601	ENST00000493459;ENST00000324210;ENST00000545754;ENST00000357472;ENST00000465907;ENST00000492948;ENST00000478535	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.49184	0.1542	L	0.33485	1.01	0.53688	D	0.999977	B;B;P;B	0.37548	0.099;0.129;0.599;0.141	B;B;B;B	0.31869	0.137;0.027;0.091;0.027	T	0.54282	-0.8317	8	0.66056	D	0.02	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	258;326;287;326	Q96RE3;Q86UV8;Q86VM6;Q96P92	.;.;.;.	I	287;326;258;326;258;326;194	.	ENSP00000319429:M326I	M	+	3	0	MBNL1	153656037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.338000	0.96553	2.683000	0.91414	0.655000	0.94253	ATG		0.413	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
C3orf79	152118	broad.mit.edu	37	3	153202469	153202469	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:153202469C>A	ENST00000446603.2	+	1	186	c.124C>A	c.(124-126)Ctt>Att	p.L42I	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	42								p.L42I(1)		endometrium(1)|large_intestine(3)	4						TCAGTGTTTGCTTTACAAGGT	0.418																																					p.L42I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124A	3						.						278.0	263.0	268.0					3																	153202469		1905	4130	6035	154685159	SO:0001583	missense	152118	exon1			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.124C>A	3.37:g.153202469C>A	ENSP00000389475:p.Leu42Ile	Somatic		Capture	Illumina HiSeq	Phase_I	154685159	NM_001101337		Missense_Mutation	SNP	ENST00000446603.2	37	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	C	0.644	-0.812090	0.02798	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.66	1.87	0.25490	.	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.11251	-1.0595	8	0.87932	D	0	.	5.6237	0.17470	0.0:0.7537:0.0:0.2463	.	42	P0CE67	CC079_HUMAN	I	42	.	ENSP00000389475:L42I	L	+	1	0	C3orf79	154685159	0.020000	0.18652	0.068000	0.19968	0.343000	0.28985	0.574000	0.23714	0.535000	0.28714	-0.136000	0.14681	CTT		0.418	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337	
COLQ	8292	broad.mit.edu	37	3	15520860	15520860	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15520860T>C	ENST00000383788.5	-	4	476	c.351A>G	c.(349-351)ggA>ggG	p.G117G	COLQ_ENST00000603808.1_Silent_p.G117G|COLQ_ENST00000435459.2_Silent_p.G107G|COLQ_ENST00000383787.2_Silent_p.G117G|COLQ_ENST00000383785.2_Silent_p.G117G|COLQ_ENST00000383781.4_Silent_p.G107G|COLQ_ENST00000383786.5_Silent_p.G83G	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	117	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.G117G(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTCCCTTTGGTCCTGTCTTGC	0.463																																					p.G83G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A249G	3						.						137.0	134.0	135.0					3																	15520860		2203	4300	6503	15495864	SO:0001819	synonymous_variant	8292	exon3			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.351A>G	3.37:g.15520860T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15495864	NM_080539	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	CCDS33709.1																																																																																				0.463	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677	
C3orf79	152118	broad.mit.edu	37	3	153203864	153203864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:153203864G>T	ENST00000446603.2	+	2	255	c.193G>T	c.(193-195)Gac>Tac	p.D65Y	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	65								p.D65Y(1)		endometrium(1)|large_intestine(3)	4						tcttctaaaagactacatttt	0.378																																					p.D65Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193T	3						.						49.0	47.0	48.0					3																	153203864		1813	4074	5887	154686554	SO:0001583	missense	152118	exon2			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.193G>T	3.37:g.153203864G>T	ENSP00000389475:p.Asp65Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	154686554	NM_001101337		Missense_Mutation	SNP	ENST00000446603.2	37	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	G	9.538	1.112622	0.20795	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.38	1.4	0.22301	.	.	.	.	.	T	0.33177	0.0854	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.12630	-1.0540	8	0.87932	D	0	.	5.8934	0.18925	0.0:0.0:0.6885:0.3115	.	65	P0CE67	CC079_HUMAN	Y	65	.	ENSP00000389475:D65Y	D	+	1	0	C3orf79	154686554	0.374000	0.25081	0.102000	0.21198	0.402000	0.30811	0.211000	0.17474	0.495000	0.27882	0.484000	0.47621	GAC		0.378	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337	
ARHGEF26	26084	broad.mit.edu	37	3	153973184	153973184	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:153973184G>T	ENST00000356448.4	+	15	2822	c.2538G>T	c.(2536-2538)aaG>aaT	p.K846N	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.K846N|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	846	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K846N(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AATGTGCCAAGGAGATAACAT	0.458																																					p.G848X	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2542T	3						.						155.0	150.0	152.0					3																	153973184		1965	4148	6113	155455878	SO:0001583	missense	26084	exon15			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2538G>T	3.37:g.153973184G>T	ENSP00000348828:p.Lys846Asn	Somatic		Capture	Illumina HiSeq	Phase_I	155455878	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847543	0.71603	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.34275	1.37;1.37	5.91	5.91	0.95273	Src homology-3 domain (3);	0.226336	0.44902	D	0.000419	T	0.39358	0.1075	L	0.60845	1.875	0.80722	D	1	P	0.52842	0.956	B	0.44315	0.446	T	0.27971	-1.0058	10	0.56958	D	0.05	-29.4091	13.1445	0.59452	0.0731:0.0:0.9269:0.0	.	846	Q96DR7	ARHGQ_HUMAN	N	846	ENSP00000348828:K846N;ENSP00000423418:K846N	ENSP00000348828:K846N	K	+	3	2	ARHGEF26	155455878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.784000	0.38674	2.793000	0.96121	0.655000	0.94253	AAG		0.458	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
GPR149	344758	broad.mit.edu	37	3	154146880	154146880	+	Silent	SNP	G	G	A	rs199943929		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:154146880G>A	ENST00000389740.2	-	1	624	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	175					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F175F(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGTGCGCACGAAGGCGCCCC	0.667																																					p.F175F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	3						.						23.0	29.0	27.0					3																	154146880		2042	4179	6221	155629574	SO:0001819	synonymous_variant	344758	exon1			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.525C>T	3.37:g.154146880G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155629574	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.667	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
MME	4311	broad.mit.edu	37	3	154860055	154860055	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:154860055T>G	ENST00000460393.1	+	12	1244	c.1124T>G	c.(1123-1125)tTc>tGc	p.F375C	MME_ENST00000492661.1_Missense_Mutation_p.F375C|MME_ENST00000360490.2_Missense_Mutation_p.F375C|MME_ENST00000462745.1_Missense_Mutation_p.F375C|MME_ENST00000493237.1_Missense_Mutation_p.F375C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	375					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.F375C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCCTGGAGATTCATAATGGAT	0.393																																					p.F375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1124G	3						.						88.0	93.0	92.0					3																	154860055		2203	4300	6503	156342749	SO:0001583	missense	4311	exon12				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1124T>G	3.37:g.154860055T>G	ENSP00000418525:p.Phe375Cys	Somatic		Capture	Illumina HiSeq	Phase_I	156342749	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566588	0.65651	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.93	5.93	0.95920	Peptidase M13 (1);	0.101229	0.64402	D	0.000001	D	0.83899	0.5354	M	0.71206	2.165	0.53688	D	0.999974	D	0.71674	0.998	D	0.68621	0.959	D	0.85626	0.1267	10	0.87932	D	0	-25.4587	12.0455	0.53477	0.1291:0.0:0.0:0.8709	.	375	P08473	NEP_HUMAN	C	375	ENSP00000420389:F375C;ENSP00000418525:F375C;ENSP00000419653:F375C;ENSP00000417079:F375C;ENSP00000353679:F375C	ENSP00000353679:F375C	F	+	2	0	MME	156342749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.268000	0.43338	2.261000	0.74972	0.477000	0.44152	TTC		0.393	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
ANKRD28	23243	broad.mit.edu	37	3	15711945	15711945	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:15711945A>C	ENST00000399451.2	-	28	3361	c.2994T>G	c.(2992-2994)aaT>aaG	p.N998K	ANKRD28_ENST00000383777.1_Missense_Mutation_p.N1031K|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	998						nucleus (GO:0005634)		p.N465K(1)|p.N1031K(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GGTTAATGGCATTGAATGTTA	0.433																																					p.N998K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2994G	3						.						236.0	228.0	230.0					3																	15711945		1976	4164	6140	15686949	SO:0001583	missense	23243	exon28			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.2994T>G	3.37:g.15711945A>C	ENSP00000382379:p.Asn998Lys	Somatic		Capture	Illumina HiSeq	Phase_I	15686949	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753024	0.49362	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.62498	0.03;0.02;0.03	5.65	5.65	0.86999	.	0.219943	0.53938	D	0.000043	T	0.51601	0.1684	L	0.27053	0.805	0.54753	D	0.999986	B;B	0.16603	0.001;0.018	B;B	0.18263	0.002;0.021	T	0.46261	-0.9204	10	0.42905	T	0.14	.	15.8742	0.79148	1.0:0.0:0.0:0.0	.	78;998	B4DS25;O15084	.;ANR28_HUMAN	K	998;1031;998	ENSP00000382379:N998K;ENSP00000373287:N1031K;ENSP00000397341:N998K	ENSP00000373287:N1031K	N	-	3	2	ANKRD28	15686949	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.070000	0.50033	2.155000	0.67459	0.533000	0.62120	AAT		0.433	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
PLCH1	23007	broad.mit.edu	37	3	155208600	155208600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:155208600C>A	ENST00000340059.7	-	18	2328	c.2329G>T	c.(2329-2331)Gat>Tat	p.D777Y	PLCH1_ENST00000447496.2_Missense_Mutation_p.D777Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.D777Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.D759Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D759Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.D759Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	777	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D759Y(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGGGTTTGATCTTTACAACAA	0.303																																					p.D777Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2329T	3						.						113.0	104.0	107.0					3																	155208600		2203	4297	6500	156691294	SO:0001583	missense	23007	exon18			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2329G>T	3.37:g.155208600C>A	ENSP00000345988:p.Asp777Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156691294	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918599	0.73098	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	6.06	6.06	0.98353	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.164757	0.56097	D	0.000033	T	0.42607	0.1210	N	0.00358	-1.6	0.80722	D	1	B;B;B	0.28258	0.171;0.205;0.01	B;B;B	0.39152	0.193;0.292;0.006	T	0.54384	-0.8302	10	0.20519	T	0.43	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	759;777;777	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	777;759;777;777;759;759	ENSP00000419100:D777Y;ENSP00000417502:D759Y;ENSP00000402759:D777Y;ENSP00000345988:D777Y;ENSP00000335469:D759Y;ENSP00000412977:D759Y	ENSP00000335469:D759Y	D	-	1	0	PLCH1	156691294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.880000	0.98712	0.650000	0.86243	GAT		0.303	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
SLC33A1	9197	broad.mit.edu	37	3	155560338	155560338	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:155560338G>A	ENST00000392845.3	-	2	1226	c.846C>T	c.(844-846)aaC>aaT	p.N282N	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.N282N			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	282					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.N282N(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGATACTTCGTTTTCTTTTT	0.308																																					p.N282N												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C846T	3						.						84.0	75.0	78.0					3																	155560338		2203	4299	6502	157043032	SO:0001819	synonymous_variant	9197	exon2			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.846C>T	3.37:g.155560338G>A		Somatic		Capture	Illumina HiSeq	Phase_I	157043032	NM_004733	B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1																																																																																				0.308	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
GMPS	8833	broad.mit.edu	37	3	155628648	155628648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:155628648G>T	ENST00000496455.2	+	6	1029	c.694G>T	c.(694-696)Gag>Tag	p.E232*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.E133*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	232	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.E232*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AGAGATCAAAGAGAGAGTAGG	0.368			T	MLL	AML																																p.E232X	Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G694T	3						.						97.0	94.0	95.0					3																	155628648		1854	4095	5949	157111342	SO:0001587	stop_gained	8833	exon6			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.694G>T	3.37:g.155628648G>T	ENSP00000419851:p.Glu232*	Somatic		Capture	Illumina HiSeq	Phase_I	157111342	NM_003875	A8K639|B4DXV7|F8W720	Nonsense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	38	7.015618	0.98002	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	6.02	6.02	0.97574	.	0.053224	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.7001	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	232;133;181;232	.	ENSP00000295920:E133X	E	+	1	0	GMPS	157111342	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	7.325000	0.79124	2.857000	0.98124	0.650000	0.86243	GAG		0.368	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
KCNAB1	7881	broad.mit.edu	37	3	156232161	156232161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156232161C>T	ENST00000490337.1	+	9	731	c.667C>T	c.(667-669)Cga>Tga	p.R223*	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Nonsense_Mutation_p.R176*|KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.R205*|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.R212*|KCNAB1_ENST00000389636.5_Nonsense_Mutation_p.R194*	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	223					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R205*(1)|p.R212*(1)|p.R223*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGAAATTGTCCGAGCCATGAC	0.398																																					p.R205X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C613T	3						.						136.0	133.0	134.0					3																	156232161		2203	4300	6503	157714855	SO:0001587	stop_gained	7881	exon9			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.667C>T	3.37:g.156232161C>T	ENSP00000419952:p.Arg223*	Somatic		Capture	Illumina HiSeq	Phase_I	157714855	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042838	0.75732	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5991	13.7623	0.62973	0.1542:0.8458:0.0:0.0	.	.	.	.	X	112;223;194;212;166;205;176	.	ENSP00000305858:R205X	R	+	1	2	KCNAB1	157714855	0.604000	0.26932	0.997000	0.53966	0.353000	0.29299	1.209000	0.32357	2.565000	0.86533	0.655000	0.94253	CGA		0.398	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
TIPARP	25976	broad.mit.edu	37	3	156413784	156413784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156413784G>A	ENST00000461166.1	+	4	1805	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	TIPARP_ENST00000542783.1_Missense_Mutation_p.R406H|TIPARP_ENST00000486483.1_Missense_Mutation_p.R406H|TIPARP_ENST00000295924.7_Missense_Mutation_p.R406H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	406	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.		R -> S (in dbSNP:rs17854621). {ECO:0000269|PubMed:15489334}.		androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R406H(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCCCTCTTCCGCTCCTGTTTT	0.383																																					p.R406H	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A	3						.						98.0	100.0	100.0					3																	156413784		2203	4300	6503	157896478	SO:0001583	missense	25976	exon4			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1217G>A	3.37:g.156413784G>A	ENSP00000420612:p.Arg406His	Somatic		Capture	Illumina HiSeq	Phase_I	157896478	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535897	0.45176	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.26660	2.78;2.78;2.78;1.72;2.78;2.78	5.47	4.6	0.57074	WWE domain (1);	0.157854	0.52532	N	0.000077	T	0.23014	0.0556	L	0.51422	1.61	0.46437	D	0.999047	B	0.26445	0.149	B	0.15052	0.012	T	0.03157	-1.1066	10	0.21014	T	0.42	.	14.1469	0.65355	0.0737:0.0:0.9263:0.0	.	406	Q7Z3E1	PARPT_HUMAN	H	406	ENSP00000418757:R406H;ENSP00000295924:R406H;ENSP00000420612:R406H;ENSP00000419982:R406H;ENSP00000418829:R406H;ENSP00000438345:R406H	ENSP00000295924:R406H	R	+	2	0	TIPARP	157896478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.211000	0.51137	1.308000	0.44962	0.460000	0.39030	CGC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
LEKR1	389170	broad.mit.edu	37	3	156745944	156745944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156745944C>A	ENST00000470811.1	+	13	1844	c.509C>A	c.(508-510)aCt>aAt	p.T170N	LEKR1_ENST00000356539.4_Missense_Mutation_p.T474N			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	170								p.T474N(1)|p.T170N(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGTGACCACTCTTAAAGAA	0.333																																					p.T474N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1421A	3						.						60.0	63.0	62.0					3																	156745944		2202	4300	6502	158228638	SO:0001583	missense	389170	exon12			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.509C>A	3.37:g.156745944C>A	ENSP00000418214:p.Thr170Asn	Somatic		Capture	Illumina HiSeq	Phase_I	158228638	NM_001004316		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216802	0.01542	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.42513	0.97;0.97	5.48	-1.01	0.10169	.	1.668810	0.03071	N	0.157195	T	0.31575	0.0801	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05733	-1.0867	10	0.18276	T	0.48	4.5015	2.3109	0.04186	0.3763:0.3767:0.1127:0.1344	.	170	Q6ZMV7	LEKR1_HUMAN	N	170;474	ENSP00000418214:T170N;ENSP00000348936:T474N	ENSP00000348936:T474N	T	+	2	0	LEKR1	158228638	0.003000	0.15002	0.001000	0.08648	0.084000	0.17831	-0.157000	0.10085	-0.028000	0.13850	-0.152000	0.13540	ACT		0.333	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
CCNL1	57018	broad.mit.edu	37	3	156867943	156867943	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156867943G>A	ENST00000295926.3	-	7	908	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	CCNL1_ENST00000461804.1_Missense_Mutation_p.R264C|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	264	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R264C(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CAATGGGGACGAGTTGGCAAC	0.343																																					p.R264C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	3						.						52.0	53.0	53.0					3																	156867943		2203	4299	6502	158350637	SO:0001583	missense	57018	exon7			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.790C>T	3.37:g.156867943G>A	ENSP00000295926:p.Arg264Cys	Somatic		Capture	Illumina HiSeq	Phase_I	158350637	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996508	0.74818	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.44083	1.96;0.93	5.75	5.75	0.90469	Cyclin-like (3);	0.045781	0.85682	D	0.000000	T	0.59905	0.2228	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.68621	0.872;0.959	T	0.60429	-0.7265	10	0.66056	D	0.02	-17.5536	14.7604	0.69602	0.0:0.0:0.8556:0.1444	.	264;264	Q9UK58;C9JPL0	CCNL1_HUMAN;.	C	264	ENSP00000420277:R264C;ENSP00000295926:R264C	ENSP00000295926:R264C	R	-	1	0	CCNL1	158350637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.880000	0.56145	2.716000	0.92895	0.655000	0.94253	CGT		0.343	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
CCNL1	57018	broad.mit.edu	37	3	156870927	156870927	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156870927G>A	ENST00000295926.3	-	4	625	c.507C>T	c.(505-507)atC>atT	p.I169I	CCNL1_ENST00000461804.1_Silent_p.I169I|Y_RNA_ENST00000364908.1_RNA|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	169	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.I169I(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TCTGATCAAGGATCAGGGGGC	0.373																																					p.I169I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	3						.						92.0	84.0	87.0					3																	156870927		2203	4300	6503	158353621	SO:0001819	synonymous_variant	57018	exon4			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.507C>T	3.37:g.156870927G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158353621	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	ENST00000295926.3	37	CCDS3178.1																																																																																				0.373	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
VEPH1	79674	broad.mit.edu	37	3	157146120	157146120	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:157146120T>A	ENST00000362010.2	-	5	994	c.687A>T	c.(685-687)aaA>aaT	p.K229N	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.K229N|VEPH1_ENST00000392832.2_Missense_Mutation_p.K229N|VEPH1_ENST00000543418.1_Missense_Mutation_p.K229N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	229						plasma membrane (GO:0005886)		p.K229N(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCTCGAGTTGTTTTTTCTTTG	0.433																																					p.K229N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A687T	3						.						168.0	154.0	159.0					3																	157146120		2203	4300	6503	158628814	SO:0001583	missense	79674	exon5			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.687A>T	3.37:g.157146120T>A	ENSP00000354919:p.Lys229Asn	Somatic		Capture	Illumina HiSeq	Phase_I	158628814	NM_001167911	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967616	0.53507	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.53640	1.29;1.29;1.29;1.29;0.61	5.48	-2.14	0.07123	.	0.161766	0.53938	D	0.000048	T	0.41971	0.1182	L	0.43152	1.355	0.09310	N	0.999999	P;P	0.46142	0.873;0.799	P;B	0.49047	0.599;0.395	T	0.42068	-0.9473	10	0.56958	D	0.05	-4.1589	8.4904	0.33098	0.0:0.5132:0.131:0.3558	.	229;229	Q14D04-2;Q14D04	.;MELT_HUMAN	N	229;229;229;229;117	ENSP00000376578:K229N;ENSP00000354919:K229N;ENSP00000446258:K229N;ENSP00000376577:K229N;ENSP00000418963:K117N	ENSP00000354919:K229N	K	-	3	2	VEPH1	158628814	0.029000	0.19370	0.031000	0.17742	0.805000	0.45488	-1.134000	0.03228	-0.388000	0.07797	-0.263000	0.10527	AAA		0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
GFM1	85476	broad.mit.edu	37	3	158369992	158369992	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:158369992A>G	ENST00000486715.1	+	6	1154	c.797A>G	c.(796-798)gAg>gGg	p.E266G	GFM1_ENST00000478576.1_Missense_Mutation_p.E266G|GFM1_ENST00000264263.5_Missense_Mutation_p.E285G	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.E266G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGCTTGGTGAGATGTTTCTG	0.408																																					p.E266G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A797G	3						.						82.0	89.0	87.0					3																	158369992		2203	4300	6503	159852686	SO:0001583	missense	85476	exon6			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.797A>G	3.37:g.158369992A>G	ENSP00000419038:p.Glu266Gly	Somatic		Capture	Illumina HiSeq	Phase_I	159852686	NM_024996		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007010	0.93287	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.77098	-1.07;-1.07;-1.07	5.63	5.63	0.86233	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	H	0.97758	4.07	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.75484	0.976;0.986;0.986	D	0.94867	0.8027	10	0.87932	D	0	-3.2381	15.5149	0.75815	1.0:0.0:0.0:0.0	.	285;266;266	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	G	266;266;285	ENSP00000419038:E266G;ENSP00000418755:E266G;ENSP00000264263:E285G	ENSP00000264263:E285G	E	+	2	0	GFM1	159852686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.809000	0.91944	2.154000	0.67381	0.533000	0.62120	GAG		0.408	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584059	159584059	+	Missense_Mutation	SNP	C	C	A	rs547031855	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:159584059C>A	ENST00000460298.1	+	3	988	c.747C>A	c.(745-747)agC>agA	p.S249R	IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.S289R|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.S338R|SCHIP1_ENST00000482804.1_Missense_Mutation_p.S62R|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S57R|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.S365R|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S276R|SCHIP1_ENST00000445224.2_Missense_Mutation_p.S46R					IQCJ-SCHIP1 readthrough									p.S365R(1)|p.S289R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGAAGCCAAGCCTTTCCTCCC	0.398																																					p.S57R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C171A	3						.						121.0	134.0	129.0					3																	159584059		2203	4300	6503	161066753	SO:0001583	missense	29970	exon2				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.747C>A	3.37:g.159584059C>A	ENSP00000417305:p.Ser249Arg	Somatic		Capture	Illumina HiSeq	Phase_I	161066753	NM_001197108		Missense_Mutation	SNP	ENST00000460298.1	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585511	0.86748	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000473061;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.971;0.965;0.999;0.999;0.999	D;P;P;D;D;D	0.91635	0.999;0.773;0.566;0.996;0.998;0.996	T	0.62854	-0.6766	10	0.72032	D	0.01	.	17.8914	0.88874	0.0:1.0:0.0:0.0	.	249;62;46;276;289;365	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	R	338;365;289;276;57;249;48;46;62	ENSP00000418692:S338R;ENSP00000420182:S365R;ENSP00000337239:S289R;ENSP00000400942:S276R;ENSP00000436076:S57R;ENSP00000417305:S249R;ENSP00000404860:S46R;ENSP00000419230:S62R	ENSP00000337239:S289R	S	+	3	2	SCHIP1;IQCJ-SCHIP1	161066753	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.551000	0.23361	2.508000	0.84585	0.484000	0.47621	AGC		0.398	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113	
SMC4	10051	broad.mit.edu	37	3	160122245	160122245	+	Nonsense_Mutation	SNP	C	C	T	rs368979205		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:160122245C>T	ENST00000357388.3	+	5	1091	c.640C>T	c.(640-642)Cga>Tga	p.R214*	SMC4_ENST00000470240.1_3'UTR|MIR15B_ENST00000385045.1_RNA|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000344722.5_Nonsense_Mutation_p.R214*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.R214*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.R214*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.R189*|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	214					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.R214*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAATCTTCTTCGAAGCCATGG	0.313																																					p.R214X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C640T	3						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	77.0	75.0		640,640	3.2	1.0	3		75	0,8596		0,0,4298	no	stop-gained,stop-gained	SMC4	NM_001002800.1,NM_005496.3	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	214/1289,214/1289	160122245	1,13001	2203	4298	6501	161604939	SO:0001587	stop_gained	10051	exon5			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.640C>T	3.37:g.160122245C>T	ENSP00000349961:p.Arg214*	Somatic		Capture	Illumina HiSeq	Phase_I	161604939	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	39	7.835362	0.98516	2.27E-4	0.0	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000485867;ENST00000344722	.	.	.	6.16	3.18	0.36537	.	0.061018	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0965	11.9534	0.52968	0.2523:0.6323:0.1154:0.0	.	.	.	.	X	214;214;214;89;89;189;214;214;142;214	.	ENSP00000341382:R214X	R	+	1	2	SMC4	161604939	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.290000	0.51755	0.834000	0.34852	0.650000	0.86243	CGA		0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
GALNT15	117248	broad.mit.edu	37	3	16216750	16216750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:16216750C>T	ENST00000339732.5	+	1	595	c.92C>T	c.(91-93)gCg>gTg	p.A31V	GALNT15_ENST00000437509.1_Missense_Mutation_p.A31V	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	31					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A31V(1)									ATGATGGTGGCGATGTTGCAC	0.587																																					p.A31V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92T	3						.						160.0	133.0	142.0					3																	16216750		2203	4300	6503	16191754	SO:0001583	missense	117248	exon1			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.92C>T	3.37:g.16216750C>T	ENSP00000344260:p.Ala31Val	Somatic		Capture	Illumina HiSeq	Phase_I	16191754	NM_054110	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321253	0.01320	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.56611	0.67;0.45	4.41	-0.466	0.12153	.	1.090500	0.06980	N	0.819811	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B	0.25809	0.135	B	0.17098	0.017	T	0.16571	-1.0398	10	0.05959	T	0.93	.	4.6656	0.12664	0.0:0.5255:0.1543:0.3203	.	31	Q8N3T1	GLTL2_HUMAN	V	31	ENSP00000344260:A31V;ENSP00000395873:A31V	ENSP00000344260:A31V	A	+	2	0	GALNTL2	16191754	0.062000	0.20869	0.021000	0.16686	0.105000	0.19272	0.238000	0.18004	-0.056000	0.13221	0.486000	0.48141	GCG		0.587	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
SMC4	10051	broad.mit.edu	37	3	160148418	160148418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:160148418C>T	ENST00000357388.3	+	19	3278	c.2827C>T	c.(2827-2829)Cgt>Tgt	p.R943C	SMC4_ENST00000344722.5_Missense_Mutation_p.R943C|SMC4_ENST00000360111.2_Missense_Mutation_p.R943C|SMC4_ENST00000462787.1_Missense_Mutation_p.R943C|SMC4_ENST00000469762.1_Missense_Mutation_p.R918C|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	943					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.R943C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCTGTCTTGCGTACAGAGAA	0.378																																					p.R943C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2827T	3						.						78.0	82.0	81.0					3																	160148418		2203	4300	6503	161631112	SO:0001583	missense	10051	exon19			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2827C>T	3.37:g.160148418C>T	ENSP00000349961:p.Arg943Cys	Somatic		Capture	Illumina HiSeq	Phase_I	161631112	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025788	0.54683	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78364	-1.17;-1.17;-0.93;-1.17;-1.17	5.45	5.45	0.79879	RecF/RecN/SMC (1);	0.258918	0.46758	D	0.000274	T	0.80003	0.4544	M	0.81341	2.54	0.80722	D	1	B;B;B;B	0.28082	0.047;0.004;0.141;0.2	B;B;B;B	0.23018	0.016;0.009;0.022;0.043	T	0.79378	-0.1828	10	0.59425	D	0.04	0.3295	18.8741	0.92328	0.0:1.0:0.0:0.0	.	943;918;918;943	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	C	943;943;918;943;943;537	ENSP00000349961:R943C;ENSP00000353225:R943C;ENSP00000417964:R918C;ENSP00000420734:R943C;ENSP00000341382:R943C	ENSP00000341382:R943C	R	+	1	0	SMC4	161631112	0.546000	0.26457	0.035000	0.18076	0.712000	0.41017	3.645000	0.54389	2.570000	0.86706	0.585000	0.79938	CGT		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
NMD3	51068	broad.mit.edu	37	3	160955951	160955951	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:160955951G>A	ENST00000460469.1	+	7	1083	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	NMD3_ENST00000472947.1_Missense_Mutation_p.E210K|NMD3_ENST00000351193.2_Missense_Mutation_p.E210K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	210					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.E210K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAAGATGGTCGAATTTCTTCA	0.338																																					p.E210K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628A	3						.						167.0	170.0	169.0					3																	160955951		2203	4300	6503	162438645	SO:0001583	missense	51068	exon8			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.628G>A	3.37:g.160955951G>A	ENSP00000419004:p.Glu210Lys	Somatic		Capture	Illumina HiSeq	Phase_I	162438645	NM_015938	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796098	0.90453	.	.	ENSG00000169251	ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000460469;ENST00000540137	T;T;T;T;T	0.44482	0.92;1.89;1.89;0.92;1.89	4.82	4.82	0.62117	.	0.150579	0.64402	D	0.000019	T	0.48519	0.1504	M	0.73217	2.22	0.58432	D	0.999995	P;P;P	0.52170	0.723;0.951;0.873	B;B;B	0.43658	0.36;0.426;0.355	T	0.59627	-0.7419	10	0.87932	D	0	-6.4701	17.2315	0.86985	0.0:0.0:1.0:0.0	.	210;210;210	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	K	210;210;210;210;210;90	ENSP00000419030:E210K;ENSP00000307525:E210K;ENSP00000417559:E210K;ENSP00000418908:E210K;ENSP00000419004:E210K	ENSP00000307525:E210K	E	+	1	0	NMD3	162438645	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.855000	0.92236	2.382000	0.81193	0.591000	0.81541	GAA		0.338	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
DPH3	285381	broad.mit.edu	37	3	16305671	16305671	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:16305671A>T	ENST00000488423.1	-	2	269	c.174T>A	c.(172-174)atT>atA	p.I58I	DPH3_ENST00000383775.4_Intron|OXNAD1_ENST00000285083.5_5'Flank|DPH3_ENST00000285082.4_5'UTR|OXNAD1_ENST00000605932.1_5'Flank|OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000435829.2_5'Flank	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	58					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I58I(1)		large_intestine(2)	2						CTTTGTCATAAATCACTTTTA	0.418																																					p.I58I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T174A	3						.						103.0	96.0	98.0					3																	16305671		2203	4300	6503	16280675	SO:0001819	synonymous_variant	285381	exon2			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.174T>A	3.37:g.16305671A>T		Somatic		Capture	Illumina HiSeq	Phase_I	16280675	NM_206831		Silent	SNP	ENST00000488423.1	37	CCDS2629.1																																																																																				0.418	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831	
DPH3	285381	broad.mit.edu	37	3	16306315	16306315	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:16306315G>T	ENST00000488423.1	-	1	164	c.69C>A	c.(67-69)ttC>ttA	p.F23L	DPH3_ENST00000383775.4_Missense_Mutation_p.F23L|OXNAD1_ENST00000285083.5_5'Flank|DPH3_ENST00000285082.4_5'Flank|OXNAD1_ENST00000605932.1_5'Flank|OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000435829.2_5'Flank	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	23					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.F23L(1)		large_intestine(2)	2						GGCAGGGATAGAAATACGTCT	0.572																																					p.F23L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C69A	3						.						105.0	89.0	95.0					3																	16306315		2203	4300	6503	16281319	SO:0001583	missense	285381	exon1			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.69C>A	3.37:g.16306315G>T	ENSP00000419599:p.Phe23Leu	Somatic		Capture	Illumina HiSeq	Phase_I	16281319	NM_001047434		Missense_Mutation	SNP	ENST00000488423.1	37	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932638	0.73442	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.15	5.15	0.70609	Zinc finger, DPH-type (2);	0.181621	0.50627	D	0.000105	T	0.51261	0.1664	.	.	.	0.48395	D	0.999641	B;B	0.33171	0.4;0.24	B;B	0.36766	0.121;0.232	T	0.44620	-0.9316	8	0.24483	T	0.36	-2.7265	17.5497	0.87872	0.0:0.0:1.0:0.0	.	23;23	Q96FX2-2;Q96FX2	.;DPH3_HUMAN	L	23	.	ENSP00000373285:F23L	F	-	3	2	DPH3	16281319	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.599000	0.61076	2.680000	0.91292	0.305000	0.20034	TTC		0.572	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831	
DAZL	1618	broad.mit.edu	37	3	16636041	16636041	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:16636041G>A	ENST00000399444.2	-	8	913	c.620C>T	c.(619-621)cCg>cTg	p.P207L	DAZL_ENST00000250863.8_Splice_Site_p.P227L	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	207					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.P207L(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TCACTTTACCGGAGGTACAAC	0.303																																					p.P207L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	3						.						39.0	41.0	40.0					3																	16636041		2128	4270	6398	16611045	SO:0001630	splice_region_variant	1618	exon8			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.621+1C>T	3.37:g.16636041G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16611045	NM_001351	O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105385	0.37145	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.27104	1.69;1.74	5.92	5.04	0.67666	.	0.228496	0.38111	N	0.001812	T	0.22551	0.0544	L	0.39020	1.185	0.53688	D	0.999973	B;B	0.15473	0.001;0.013	B;B	0.06405	0.001;0.002	T	0.02031	-1.1226	10	0.37606	T	0.19	-11.984	14.9456	0.71029	0.0:0.0:0.857:0.143	.	207;227	Q92904;Q5HYB4	DAZL_HUMAN;.	L	227;207	ENSP00000250863:P227L;ENSP00000382373:P207L	ENSP00000250863:P227L	P	-	2	0	DAZL	16611045	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.638000	0.46562	1.502000	0.48669	-0.175000	0.13238	CCG		0.303	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	Missense_Mutation
OTOL1	131149	broad.mit.edu	37	3	161217030	161217030	+	Missense_Mutation	SNP	G	G	T	rs200883805		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:161217030G>T	ENST00000327928.4	+	2	436	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	146	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G146C(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGCCCTAGAGGCTACAAAGG	0.438																																					p.G146C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436T	3						.	G	CYS/GLY	1,3679		0,1,1839	44.0	46.0	46.0		436	4.7	1.0	3		46	0,8158		0,0,4079	yes	missense	OTOL1	NM_001080440.1	159	0,1,5918	TT,TG,GG		0.0,0.0272,0.0084	probably-damaging	146/478	161217030	1,11837	1840	4079	5919	162699724	SO:0001583	missense	131149	exon2				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.436G>T	3.37:g.161217030G>T	ENSP00000330808:p.Gly146Cys	Somatic		Capture	Illumina HiSeq	Phase_I	162699724	NM_001080440		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176120	0.57692	2.72E-4	0.0	ENSG00000182447	ENST00000327928	D	0.99369	-5.78	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	H	0.98048	4.135	0.48511	D	0.999667	D	0.89917	1.0	D	0.97110	1.0	D	0.97667	1.0164	10	0.87932	D	0	.	12.7969	0.57564	0.0788:0.0:0.9212:0.0	.	146	A6NHN0	OTOL1_HUMAN	C	146	ENSP00000330808:G146C	ENSP00000330808:G146C	G	+	1	0	OTOL1	162699724	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	8.660000	0.91121	1.340000	0.45581	0.650000	0.86243	GGC		0.438	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
SI	6476	broad.mit.edu	37	3	164714403	164714403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:164714403C>A	ENST00000264382.3	-	40	4674	c.4612G>T	c.(4612-4614)Gaa>Taa	p.E1538*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1538	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.E1538*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGATGATATTCTGAGTTGTTG	0.299										HNSCC(35;0.089)																											p.E1538X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4612T	3						.						71.0	71.0	71.0					3																	164714403		2201	4296	6497	166197097	SO:0001587	stop_gained	6476	exon40			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4612G>T	3.37:g.164714403C>A	ENSP00000264382:p.Glu1538*	Somatic		Capture	Illumina HiSeq	Phase_I	166197097	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	38	6.818812	0.97861	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.42	3.54	0.40534	.	0.254923	0.38272	N	0.001745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.5348	0.27704	0.0:0.7346:0.0:0.2653	.	.	.	.	X	1538	.	ENSP00000264382:E1538X	E	-	1	0	SI	166197097	0.002000	0.14202	0.008000	0.14137	0.004000	0.04260	0.434000	0.21494	1.217000	0.43442	-0.237000	0.12165	GAA		0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164777045	164777045	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:164777045C>A	ENST00000264382.3	-	11	1251	c.1189G>T	c.(1189-1191)Gac>Tac	p.D397Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	397	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D397Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAAGTAAAGTCTTTCTTGTCT	0.353										HNSCC(35;0.089)																											p.D397Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1189T	3						.						146.0	134.0	138.0					3																	164777045		2202	4300	6502	166259739	SO:0001583	missense	6476	exon11			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1189G>T	3.37:g.164777045C>A	ENSP00000264382:p.Asp397Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	166259739	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535965	0.64972	.	.	ENSG00000090402	ENST00000264382	D	0.95518	-3.73	5.59	3.81	0.43845	Glycoside hydrolase, superfamily (1);	0.340286	0.37136	N	0.002234	D	0.96731	0.8933	L	0.58510	1.815	0.40748	D	0.982895	D	0.89917	1.0	D	0.91635	0.999	D	0.96817	0.9601	10	0.87932	D	0	.	13.2924	0.60278	0.0:0.8977:0.0:0.1023	.	397	P14410	SUIS_HUMAN	Y	397	ENSP00000264382:D397Y	ENSP00000264382:D397Y	D	-	1	0	SI	166259739	1.000000	0.71417	0.865000	0.33974	0.867000	0.49689	2.991000	0.49409	0.736000	0.32559	0.557000	0.71058	GAC		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	broad.mit.edu	37	3	164907726	164907726	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:164907726G>A	ENST00000475390.1	-	2	1336	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S298L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	298					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S298L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACTTGATGACGAATGTGGAAT	0.433										HNSCC(40;0.11)																											p.S298L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C893T	3						.						109.0	113.0	112.0					3																	164907726		2203	4300	6503	166390420	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.893C>T	3.37:g.164907726G>A	ENSP00000420091:p.Ser298Leu	Somatic		Capture	Illumina HiSeq	Phase_I	166390420	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757535	0.03019	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54071	0.59;0.59	5.75	4.59	0.56863	.	0.338965	0.16623	N	0.206417	T	0.18341	0.0440	N	0.00268	-1.735	0.22954	N	0.998516	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.21014	T	0.42	-4.5598	11.9582	0.52993	0.9319:0.0:0.0681:0.0	.	298	O94933	SLIK3_HUMAN	L	298	ENSP00000420091:S298L;ENSP00000241274:S298L	ENSP00000241274:S298L	S	-	2	0	SLITRK3	166390420	1.000000	0.71417	0.937000	0.37676	0.040000	0.13550	7.174000	0.77620	1.004000	0.39156	-0.294000	0.09567	TCG		0.433	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
SLITRK3	22865	broad.mit.edu	37	3	164908602	164908602	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:164908602G>A	ENST00000475390.1	-	2	460	c.17C>T	c.(16-18)gCt>gTt	p.A6V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A6V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	6					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A6V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGCATCTCAGCTATGGAAGG	0.383										HNSCC(40;0.11)																											p.A6V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17T	3						.						64.0	58.0	60.0					3																	164908602		2191	4277	6468	166391296	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.17C>T	3.37:g.164908602G>A	ENSP00000420091:p.Ala6Val	Somatic		Capture	Illumina HiSeq	Phase_I	166391296	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	6.557	0.471122	0.12461	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.68624	0.68;0.68;-0.34	5.49	5.49	0.81192	.	0.654113	0.12668	N	0.449033	T	0.51415	0.1673	N	0.08118	0	0.45777	D	0.998664	B	0.30793	0.295	B	0.25759	0.063	T	0.54364	-0.8305	10	0.62326	D	0.03	-2.8078	19.553	0.95330	0.0:0.0:1.0:0.0	.	6	O94933	SLIK3_HUMAN	V	6	ENSP00000420091:A6V;ENSP00000241274:A6V;ENSP00000419611:A6V	ENSP00000241274:A6V	A	-	2	0	SLITRK3	166391296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.794000	0.75135	2.860000	0.98153	0.655000	0.94253	GCT		0.383	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
ZBBX	79740	broad.mit.edu	37	3	167016185	167016185	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:167016185C>A	ENST00000392766.2	-	18	2127	c.1787G>T	c.(1786-1788)aGa>aTa	p.R596I	ZBBX_ENST00000455345.2_Missense_Mutation_p.R596I|ZBBX_ENST00000392767.2_Missense_Mutation_p.R596I|ZBBX_ENST00000392764.1_Missense_Mutation_p.R567I|ZBBX_ENST00000307529.5_Missense_Mutation_p.R596I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	596						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R596I(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATAAAGAATCTCTCAAGTCC	0.303																																					p.R596I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1787T	3						.						132.0	134.0	134.0					3																	167016185		1828	4070	5898	168498879	SO:0001583	missense	79740	exon18			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1787G>T	3.37:g.167016185C>A	ENSP00000376519:p.Arg596Ile	Somatic		Capture	Illumina HiSeq	Phase_I	168498879	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451207	0.63290	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.84;2.84;2.86;2.86;2.67	4.9	-0.367	0.12541	.	0.319140	0.32548	N	0.005959	T	0.11024	0.0269	L	0.50333	1.59	0.33545	D	0.595343	B;B	0.26809	0.16;0.099	B;B	0.29598	0.104;0.027	T	0.07139	-1.0788	10	0.66056	D	0.02	-3.4584	4.1053	0.10033	0.1591:0.4484:0.0:0.3924	.	596;596	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	596;596;596;596;567	ENSP00000376519:R596I;ENSP00000376520:R596I;ENSP00000390232:R596I;ENSP00000305065:R596I;ENSP00000376517:R567I	ENSP00000305065:R596I	R	-	2	0	ZBBX	168498879	0.903000	0.30736	0.959000	0.39883	0.981000	0.71138	-0.088000	0.11198	-0.055000	0.13244	0.591000	0.81541	AGA		0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
WDR49	151790	broad.mit.edu	37	3	167246966	167246966	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:167246966C>A	ENST00000308378.3	-	10	1529	c.1224G>T	c.(1222-1224)aaG>aaT	p.K408N	WDR49_ENST00000476376.1_Missense_Mutation_p.K233N|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.K472N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	408								p.K408N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAAGTTGCTTCTTATATATAT	0.378																																					p.K408N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1224T	3						.						91.0	89.0	90.0					3																	167246966		2203	4300	6503	168729660	SO:0001583	missense	151790	exon10			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1224G>T	3.37:g.167246966C>A	ENSP00000311343:p.Lys408Asn	Somatic		Capture	Illumina HiSeq	Phase_I	168729660	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.476813|1.476813	0.26511|0.26511	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600;ENST00000493061	T;T;T|.	0.34072|.	1.65;1.38;2.28|.	5.7|5.7	2.85|2.85	0.33270|0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.338089|.	0.34750|.	N|.	0.003715|.	T|T	0.34600|0.34600	0.0903|0.0903	L|L	0.39397|0.39397	1.21|1.21	0.24488|0.24488	N|N	0.994313|0.994313	P;P|.	0.48764|.	0.842;0.915|.	B;B|.	0.39531|.	0.236;0.302|.	T|T	0.21415|0.21415	-1.0246|-1.0246	10|5	0.28530|.	T|.	0.3|.	.|.	5.7713|5.7713	0.18255|0.18255	0.0:0.6263:0.1453:0.2284|0.0:0.6263:0.1453:0.2284	.|.	472;408|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	N|I	408;233;472|484;46	ENSP00000311343:K408N;ENSP00000420508:K233N;ENSP00000410863:K472N|.	ENSP00000311343:K408N|.	K|R	-|-	3|2	2|0	WDR49|WDR49	168729660|168729660	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.687000|0.687000	0.40016|0.40016	0.475000|0.475000	0.22164|0.22164	0.714000|0.714000	0.32081|0.32081	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.378	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
GOLIM4	27333	broad.mit.edu	37	3	167728167	167728167	+	Nonsense_Mutation	SNP	G	G	A	rs139759842	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:167728167G>A	ENST00000470487.1	-	16	2670	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.R633*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	661	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R661*(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGTCATCTCGAACTTCTTGC	0.398													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15402	0.001		0.0	False		,,,				2504	0.0				p.R661X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1981T	3						.	G	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	136.0	133.0	134.0		1981	4.6	0.0	3	dbSNP_134	134	0,8600		0,0,4300	yes	stop-gained	GOLIM4	NM_014498.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		661/697	167728167	3,13003	2203	4300	6503	169210861	SO:0001587	stop_gained	27333	exon16			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1981C>T	3.37:g.167728167G>A	ENSP00000417354:p.Arg661*	Somatic		Capture	Illumina HiSeq	Phase_I	169210861	NM_014498		Nonsense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	40	8.101808	0.98654	6.81E-4	0.0	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.45	4.57	0.56435	.	0.518771	0.21663	N	0.070988	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-0.6558	14.2525	0.66028	0.0:0.0:0.8506:0.1494	.	.	.	.	X	661;633	.	ENSP00000309893:R633X	R	-	1	2	GOLIM4	169210861	0.161000	0.22892	0.004000	0.12327	0.058000	0.15608	3.318000	0.51975	1.413000	0.46997	0.644000	0.83932	CGA		0.398	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
GOLIM4	27333	broad.mit.edu	37	3	167761251	167761251	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:167761251C>A	ENST00000470487.1	-	5	1122	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	GOLIM4_ENST00000309027.4_Missense_Mutation_p.D145Y	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	145	Endosome targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D145Y(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTACTGAAGTCTTCCCCTTGT	0.378																																					p.D145Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433T	3						.						204.0	197.0	199.0					3																	167761251		2203	4300	6503	169243945	SO:0001583	missense	27333	exon5			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.433G>T	3.37:g.167761251C>A	ENSP00000417354:p.Asp145Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169243945	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542062	0.85917	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.43	5.43	0.79202	.	0.041945	0.85682	D	0.000000	T	0.79604	0.4474	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.80712	-0.1260	9	0.72032	D	0.01	-31.5994	19.6602	0.95864	0.0:1.0:0.0:0.0	.	145;145	F8W785;O00461	.;GOLI4_HUMAN	Y	145	.	ENSP00000309893:D145Y	D	-	1	0	GOLIM4	169243945	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.986000	0.76200	2.735000	0.93741	0.549000	0.68633	GAC		0.378	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
MECOM	2122	broad.mit.edu	37	3	168833870	168833870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:168833870G>A	ENST00000464456.1	-	7	2426	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	MECOM_ENST00000468789.1_Missense_Mutation_p.S409L|MECOM_ENST00000494292.1_Missense_Mutation_p.S597L|MECOM_ENST00000460814.1_Missense_Mutation_p.S409L|MECOM_ENST00000472280.1_Missense_Mutation_p.S410L|MECOM_ENST00000392736.3_Missense_Mutation_p.S409L|MECOM_ENST00000433243.2_Missense_Mutation_p.S410L|MECOM_ENST00000264674.3_Missense_Mutation_p.S474L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S409L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCAGAGCCCGAGGTTGTTTC	0.423																																					p.S409L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1226T	3						.						280.0	243.0	256.0					3																	168833870		2203	4300	6503	170316564	SO:0001583	missense	2122	exon7			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1226C>T	3.37:g.168833870G>A	ENSP00000419770:p.Ser409Leu	Somatic		Capture	Illumina HiSeq	Phase_I	170316564	NM_001164000	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737702	0.69304	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08896	3.1;3.09;3.05;3.19;3.06;3.09;3.04;3.19	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000008	T	0.24736	0.0600	L	0.40543	1.245	0.58432	D	0.999999	P;D;D;D;B	0.89917	0.75;1.0;1.0;1.0;0.289	B;D;D;D;B	0.83275	0.073;0.996;0.992;0.996;0.033	T	0.00069	-1.2138	10	0.87932	D	0	-5.7464	20.5568	0.99304	0.0:0.0:1.0:0.0	.	597;410;597;474;409	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	474;409;409;410;597;409;409;410	ENSP00000264674:S474L;ENSP00000376493:S409L;ENSP00000419770:S409L;ENSP00000420048:S410L;ENSP00000417899:S597L;ENSP00000419995:S409L;ENSP00000420466:S409L;ENSP00000394302:S410L	ENSP00000264674:S474L	S	-	2	0	MECOM	170316564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TCG		0.423	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
MECOM	2122	broad.mit.edu	37	3	168834210	168834210	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:168834210C>T	ENST00000464456.1	-	7	2086	c.886G>A	c.(886-888)Gct>Act	p.A296T	MECOM_ENST00000468789.1_Missense_Mutation_p.A296T|MECOM_ENST00000494292.1_Missense_Mutation_p.A484T|MECOM_ENST00000460814.1_Missense_Mutation_p.A296T|MECOM_ENST00000472280.1_Missense_Mutation_p.A297T|MECOM_ENST00000392736.3_Missense_Mutation_p.A296T|MECOM_ENST00000433243.2_Missense_Mutation_p.A297T|MECOM_ENST00000264674.3_Missense_Mutation_p.A361T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A296T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AATCCAGGAGCTGTTGGAAAG	0.473																																					p.A296T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	3						.						316.0	278.0	291.0					3																	168834210		2203	4300	6503	170316904	SO:0001583	missense	2122	exon7			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.886G>A	3.37:g.168834210C>T	ENSP00000419770:p.Ala296Thr	Somatic		Capture	Illumina HiSeq	Phase_I	170316904	NM_001164000	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876257	0.51801	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06528	3.36;3.33;3.3;3.45;3.3;3.33;3.29;3.45	5.93	5.06	0.68205	.	0.254509	0.34580	N	0.003847	T	0.17450	0.0419	L	0.43152	1.355	0.51233	D	0.999913	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.996	T	0.03068	-1.1076	10	0.27785	T	0.31	-6.1279	15.0975	0.72247	0.0:0.9323:0.0:0.0677	.	484;297;484;361;296	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	361;296;296;297;484;296;296;297	ENSP00000264674:A361T;ENSP00000376493:A296T;ENSP00000419770:A296T;ENSP00000420048:A297T;ENSP00000417899:A484T;ENSP00000419995:A296T;ENSP00000420466:A296T;ENSP00000394302:A297T	ENSP00000264674:A361T	A	-	1	0	MECOM	170316904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	1.515000	0.48885	0.655000	0.94253	GCT		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
ACTRT3	84517	broad.mit.edu	37	3	169485373	169485373	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169485373G>A	ENST00000330368.2	-	2	1340	c.966C>T	c.(964-966)acC>acT	p.T322T	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	322						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.T322T(1)									CTTGCACAGCGGTGTTGGCAG	0.473																																					p.T322T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	3						.						108.0	118.0	114.0					3																	169485373		2203	4300	6503	170968067	SO:0001819	synonymous_variant	84517	exon2			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.966C>T	3.37:g.169485373G>A		Somatic		Capture	Illumina HiSeq	Phase_I	170968067	NM_032487	Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	CCDS3206.1																																																																																				0.473	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487	
LRRC34	151827	broad.mit.edu	37	3	169521851	169521851	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169521851T>C	ENST00000316515.7	-	6	884	c.608A>G	c.(607-609)gAc>gGc	p.D203G	LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.D216G|LRRC34_ENST00000522830.1_Missense_Mutation_p.D155G|LRRC34_ENST00000522526.2_Missense_Mutation_p.D216G	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	203								p.D203G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGATCACAGTCACCCAGATC	0.343																																					p.D216G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A647G	3						.						88.0	87.0	87.0					3																	169521851		2203	4299	6502	171004545	SO:0001583	missense	151827	exon6			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.608A>G	3.37:g.169521851T>C	ENSP00000326150:p.Asp203Gly	Somatic		Capture	Illumina HiSeq	Phase_I	171004545	NM_001172779	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.149654	0.78001	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.73	5.73	0.89815	.	0.041245	0.85682	D	0.000000	T	0.58935	0.2157	L	0.45285	1.41	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;0.971;1.0;1.0	D;D;P;D;D	0.91635	0.946;0.999;0.885;0.991;0.998	T	0.52578	-0.8557	10	0.16420	T	0.52	-31.1735	14.9959	0.71431	0.0:0.0:0.0:1.0	.	203;155;155;216;203	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	G	216;203;155;216	ENSP00000414635:D216G;ENSP00000326150:D203G;ENSP00000429593:D155G;ENSP00000429278:D216G	ENSP00000326150:D203G	D	-	2	0	LRRC34	171004545	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	6.334000	0.72944	2.179000	0.69175	0.533000	0.62120	GAC		0.343	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	
LRRIQ4	344657	broad.mit.edu	37	3	169546595	169546595	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169546595A>C	ENST00000340806.6	+	2	1069	c.1069A>C	c.(1069-1071)Aca>Cca	p.T357P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	357								p.T357P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTTGGACTAACAGGAAATGA	0.368																																					p.T357P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1069C	3						.						102.0	100.0	100.0					3																	169546595		1829	4092	5921	171029289	SO:0001583	missense	344657	exon2				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1069A>C	3.37:g.169546595A>C	ENSP00000342188:p.Thr357Pro	Somatic		Capture	Illumina HiSeq	Phase_I	171029289	NM_001080460		Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152248	0.57259	.	.	ENSG00000188306	ENST00000340806	T	0.20200	2.09	5.77	1.85	0.25348	.	0.400742	0.22964	N	0.053514	T	0.27134	0.0665	N	0.20445	0.575	0.26019	N	0.981896	D	0.76494	0.999	D	0.72982	0.979	T	0.11179	-1.0598	10	0.45353	T	0.12	.	11.0467	0.47863	0.5287:0.0:0.0:0.4713	.	357	A6NIV6	LRIQ4_HUMAN	P	357	ENSP00000342188:T357P	ENSP00000342188:T357P	T	+	1	0	LRRIQ4	171029289	0.011000	0.17503	0.676000	0.29932	0.964000	0.63967	0.644000	0.24766	0.065000	0.16485	0.533000	0.62120	ACA		0.368	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
LRRIQ4	344657	broad.mit.edu	37	3	169555317	169555317	+	Silent	SNP	C	C	T	rs369016431		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169555317C>T	ENST00000340806.6	+	5	1581	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	527	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.F527F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGGGAAATTCGGTGAACTAC	0.393																																					p.F527F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	3						.	C		1,3751		0,1,1875	74.0	68.0	70.0		1581	1.2	0.0	3		70	0,8218		0,0,4109	no	coding-synonymous	LRRIQ4	NM_001080460.1		0,1,5984	TT,TC,CC		0.0,0.0267,0.0084		527/561	169555317	1,11969	1876	4109	5985	171038011	SO:0001819	synonymous_variant	344657	exon5				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1581C>T	3.37:g.169555317C>T		Somatic		Capture	Illumina HiSeq	Phase_I	171038011	NM_001080460		Silent	SNP	ENST00000340806.6	37	CCDS46951.1																																																																																				0.393	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
SAMD7	344658	broad.mit.edu	37	3	169644589	169644589	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169644589G>T	ENST00000428432.2	+	6	928	c.539G>T	c.(538-540)aGa>aTa	p.R180I	SAMD7_ENST00000335556.3_Missense_Mutation_p.R180I	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	180								p.R180I(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGGGGCAGAGATGTCGTCGA	0.493																																					p.R180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539T	3						.						64.0	67.0	66.0					3																	169644589		2203	4300	6503	171127283	SO:0001583	missense	344658	exon6			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.539G>T	3.37:g.169644589G>T	ENSP00000391299:p.Arg180Ile	Somatic		Capture	Illumina HiSeq	Phase_I	171127283	NM_182610		Missense_Mutation	SNP	ENST00000428432.2	37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520168	0.44866	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.58060	0.36;0.36	6.16	2.41	0.29592	.	0.142347	0.64402	D	0.000009	T	0.37183	0.0994	L	0.27053	0.805	0.44677	D	0.997666	P	0.49961	0.93	P	0.45037	0.467	T	0.21518	-1.0243	10	0.87932	D	0	-23.4939	3.7167	0.08441	0.4734:0.0:0.361:0.1656	.	180	Q7Z3H4	SAMD7_HUMAN	I	180	ENSP00000391299:R180I;ENSP00000334668:R180I	ENSP00000334668:R180I	R	+	2	0	SAMD7	171127283	1.000000	0.71417	0.997000	0.53966	0.672000	0.39443	2.236000	0.43052	0.581000	0.29539	-0.312000	0.09012	AGA		0.493	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610	
SAMD7	344658	broad.mit.edu	37	3	169644770	169644770	+	Silent	SNP	G	G	A	rs543334158		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169644770G>A	ENST00000428432.2	+	6	1109	c.720G>A	c.(718-720)acG>acA	p.T240T	SAMD7_ENST00000335556.3_Silent_p.T240T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	240								p.T240T(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGTGAAACGAATGAAAAGC	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0				p.T240T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	3						.						114.0	111.0	112.0					3																	169644770		2203	4300	6503	171127464	SO:0001819	synonymous_variant	344658	exon6			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.720G>A	3.37:g.169644770G>A		Somatic		Capture	Illumina HiSeq	Phase_I	171127464	NM_182610		Silent	SNP	ENST00000428432.2	37	CCDS3209.1																																																																																				0.493	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610	
PRKCI	5584	broad.mit.edu	37	3	169998141	169998141	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:169998141C>T	ENST00000295797.4	+	9	1137	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R269C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAAAACAGATCGTATTTATGC	0.353																																					p.R278C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	3						.						90.0	90.0	90.0					3																	169998141		2203	4300	6503	171480835	SO:0001583	missense	5584	exon9				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.832C>T	3.37:g.169998141C>T	ENSP00000295797:p.Arg278Cys	Somatic		Capture	Illumina HiSeq	Phase_I	171480835	NM_002740	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649220	0.67358	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.75	4.82	0.62117	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	0.56558	0.1993	L	0.51853	1.615	0.80722	D	1	P	0.42078	0.77	B	0.34536	0.185	T	0.58323	-0.7656	9	.	.	.	.	13.7551	0.62933	0.2671:0.7329:0.0:0.0	.	278	P41743	KPCI_HUMAN	C	278	ENSP00000295797:R278C	.	R	+	1	0	PRKCI	171480835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.443000	0.52907	2.878000	0.98634	0.650000	0.86243	CGT		0.353	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
RPL22L1	200916	broad.mit.edu	37	3	170584225	170584225	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:170584225C>T	ENST00000295830.8	-	4	628	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RPL22L1_ENST00000463836.1_Missense_Mutation_p.E104K	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	105					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.E105K(1)		kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TAACGAAGTTCGTAGGTCTCC	0.378																																					p.E105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	3						.						50.0	47.0	48.0					3																	170584225		1846	4096	5942	172066919	SO:0001583	missense	200916	exon4			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.313G>A	3.37:g.170584225C>T	ENSP00000346080:p.Glu105Lys	Somatic		Capture	Illumina HiSeq	Phase_I	172066919	NM_001099645	Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757144	0.69648	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.50277	0.75;0.75;0.75	5.37	4.49	0.54785	.	0.048774	0.85682	D	0.000000	T	0.50599	0.1625	L	0.60845	1.875	0.80722	D	1	P	0.50819	0.939	P	0.45538	0.484	T	0.55988	-0.8053	10	0.54805	T	0.06	.	16.0202	0.80478	0.0:0.8652:0.1348:0.0	.	105	Q6P5R6	RL22L_HUMAN	K	105;125;104	ENSP00000346080:E105K;ENSP00000419713:E125K;ENSP00000419041:E104K	ENSP00000346080:E105K	E	-	1	0	RPL22L1	172066919	1.000000	0.71417	0.956000	0.39512	0.759000	0.43091	4.932000	0.63476	1.250000	0.43966	0.313000	0.20887	GAA		0.378	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317	
TNIK	23043	broad.mit.edu	37	3	170781735	170781735	+	Nonsense_Mutation	SNP	G	G	A	rs189969139		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:170781735G>A	ENST00000436636.2	-	33	4362	c.4018C>T	c.(4018-4020)Cga>Tga	p.R1340*	TNIK_ENST00000341852.6_Nonsense_Mutation_p.R1256*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R1332*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R1311*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R1292*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R1303*|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R1248*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R1277*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R1318*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R1285*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1340					actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R1340*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCCAGATCGCACGGATGCA	0.408																																					p.R1285X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3853T	3						.						106.0	99.0	102.0					3																	170781735		1851	4100	5951	172264429	SO:0001587	stop_gained	23043	exon32			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4018C>T	3.37:g.170781735G>A	ENSP00000399511:p.Arg1340*	Somatic		Capture	Illumina HiSeq	Phase_I	172264429	NM_001161563	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	41	9.077051	0.99057	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3526	0.66713	0.0:0.0:0.6783:0.3217	.	.	.	.	X	1340;1318;1292;1256;1332;1248;1311;1277;1285;1303	.	ENSP00000284483:R1332X	R	-	1	2	TNIK	172264429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.578000	0.60929	1.484000	0.48361	0.655000	0.94253	CGA		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
TNIK	23043	broad.mit.edu	37	3	170802056	170802056	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:170802056C>A	ENST00000436636.2	-	26	3401	c.3057G>T	c.(3055-3057)aaG>aaT	p.K1019N	TNIK_ENST00000341852.6_Missense_Mutation_p.K935N|TNIK_ENST00000284483.8_Missense_Mutation_p.K1011N|TNIK_ENST00000357327.5_Missense_Mutation_p.K990N|TNIK_ENST00000538048.1_Missense_Mutation_p.K971N|TNIK_ENST00000470834.1_Missense_Mutation_p.K982N|TNIK_ENST00000475336.1_Missense_Mutation_p.K927N|TNIK_ENST00000460047.1_Missense_Mutation_p.K956N|TNIK_ENST00000369326.5_Missense_Mutation_p.K997N|TNIK_ENST00000488470.1_Missense_Mutation_p.K964N	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1019	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K1019N(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCACCGAAATCTTTCTTGCTT	0.388																																					p.K964N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2892T	3						.						150.0	145.0	147.0					3																	170802056		1855	4102	5957	172284750	SO:0001583	missense	23043	exon25			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3057G>T	3.37:g.170802056C>A	ENSP00000399511:p.Lys1019Asn	Somatic		Capture	Illumina HiSeq	Phase_I	172284750	NM_001161563	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586217	0.46110	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.80738	-1.37;-1.36;-1.4;-1.39;-1.37;-1.38;-1.38;-1.41;-1.41;-1.37	5.65	2.84	0.33178	.	0.044395	0.85682	D	0.000000	D	0.88599	0.6480	M	0.82193	2.58	0.58432	D	0.999995	D;P;D;D;D;P;D;P	0.64830	0.989;0.858;0.989;0.989;0.994;0.858;0.989;0.882	D;P;D;D;D;P;D;P	0.75020	0.985;0.655;0.985;0.985;0.952;0.655;0.985;0.636	D	0.88041	0.2781	10	0.87932	D	0	.	10.6808	0.45813	0.0:0.6715:0.0:0.3285	.	927;982;956;935;1011;990;964;1019	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	N	1019;997;971;935;1011;927;990;956;964;982	ENSP00000399511:K1019N;ENSP00000358332:K997N;ENSP00000443278:K971N;ENSP00000345352:K935N;ENSP00000284483:K1011N;ENSP00000418156:K927N;ENSP00000349880:K990N;ENSP00000418916:K956N;ENSP00000418378:K964N;ENSP00000419990:K982N	ENSP00000284483:K1011N	K	-	3	2	TNIK	172284750	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	1.756000	0.38390	0.420000	0.25954	-0.813000	0.03139	AAG		0.388	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
TNIK	23043	broad.mit.edu	37	3	170884890	170884890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:170884890C>A	ENST00000436636.2	-	10	1287	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	TNIK_ENST00000341852.6_Nonsense_Mutation_p.E315*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.E315*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.E315*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.E315*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.E315*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	315	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E315*(4)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAACCTTTTTCTCCTCGCTTC	0.413																																					p.E315X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G943T	3						.						171.0	151.0	157.0					3																	170884890		1905	4118	6023	172367584	SO:0001587	stop_gained	23043	exon10			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.943G>T	3.37:g.170884890C>A	ENSP00000399511:p.Glu315*	Somatic		Capture	Illumina HiSeq	Phase_I	172367584	NM_001161563	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	38	6.651490	0.97734	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	.	.	.	X	315;315;315;315;315;315;315;315;315;315;289	.	ENSP00000284483:E315X	E	-	1	0	TNIK	172367584	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.644000	0.89710	0.655000	0.94253	GAA		0.413	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
SPATA16	83893	broad.mit.edu	37	3	172835114	172835114	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:172835114G>A	ENST00000351008.3	-	2	591	c.408C>T	c.(406-408)cgC>cgT	p.R136R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.R136R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CAAACTCATAGCGAACACCCA	0.423																																					p.R136R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	3						.						257.0	237.0	244.0					3																	172835114		2203	4300	6503	174317808	SO:0001819	synonymous_variant	83893	exon2			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.408C>T	3.37:g.172835114G>A		Somatic		Capture	Illumina HiSeq	Phase_I	174317808	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	CCDS3221.1																																																																																				0.423	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
NLGN1	22871	broad.mit.edu	37	3	173322771	173322771	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:173322771A>C	ENST00000457714.1	+	3	812	c.383A>C	c.(382-384)gAa>gCa	p.E128A	NLGN1_ENST00000545397.1_Missense_Mutation_p.E128A|NLGN1_ENST00000401917.3_Missense_Mutation_p.E128A|NLGN1_ENST00000361589.4_Missense_Mutation_p.E128A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	128					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.E128A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGATTGCCAGAAGTCATGCTT	0.433																																					p.E128A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A383C	3						.						170.0	165.0	167.0					3																	173322771		2203	4300	6503	174805465	SO:0001583	missense	22871	exon3			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.383A>C	3.37:g.173322771A>C	ENSP00000392500:p.Glu128Ala	Somatic		Capture	Illumina HiSeq	Phase_I	174805465	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812577	0.32053	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71461	-0.23;-0.23;-0.57;-0.23;-0.26	5.62	5.62	0.85841	.	0.064906	0.64402	D	0.000013	T	0.51839	0.1698	N	0.11560	0.145	0.51012	D	0.999908	B;B	0.17038	0.02;0.003	B;B	0.18871	0.023;0.001	T	0.49808	-0.8900	10	0.13108	T	0.6	.	16.1135	0.81278	1.0:0.0:0.0:0.0	.	128;128	D2X2H5;Q8N2Q7-2	.;.	A	128	ENSP00000392500:E128A;ENSP00000354541:E128A;ENSP00000410374:E128A;ENSP00000441108:E128A;ENSP00000385750:E128A	ENSP00000354541:E128A	E	+	2	0	NLGN1	174805465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.910000	0.92685	2.267000	0.75376	0.383000	0.25322	GAA		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
TBL1XR1	79718	broad.mit.edu	37	3	176768315	176768315	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:176768315C>T	ENST00000430069.1	-	6	770	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.E171K|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	171					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E171K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATAAAAACTTCAGATTCATGG	0.388																																					p.E171K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	3						.						80.0	78.0	78.0					3																	176768315		1904	4127	6031	178251009	SO:0001583	missense	79718	exon6			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.511G>A	3.37:g.176768315C>T	ENSP00000405574:p.Glu171Lys	Somatic		Capture	Illumina HiSeq	Phase_I	178251009	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	36	5.959143	0.97145	.	.	ENSG00000177565	ENST00000430069;ENST00000457928	T;T	0.60040	0.22;0.22	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.098832	0.64402	D	0.000002	T	0.61776	0.2374	N	0.16130	0.375	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.60378	-0.7275	10	0.28530	T	0.3	-41.5594	18.8249	0.92114	0.0:1.0:0.0:0.0	.	171	Q9BZK7	TBL1R_HUMAN	K	171	ENSP00000405574:E171K;ENSP00000413251:E171K	ENSP00000405574:E171K	E	-	1	0	TBL1XR1	178251009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.770000	0.95276	0.655000	0.94253	GAA		0.388	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
PIK3CA	5290	broad.mit.edu	37	3	178942523	178942523	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:178942523G>T	ENST00000263967.3	+	16	2487	c.2330G>T	c.(2329-2331)aGg>aTg	p.R777M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	777					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R777M(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCTGCAAAAAGGCCACTGTGG	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R777M	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2330T	3						.						133.0	122.0	126.0					3																	178942523		1840	4094	5934	180425217	SO:0001583	missense	5290	exon16				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2330G>T	3.37:g.178942523G>T	ENSP00000263967:p.Arg777Met	Somatic		Capture	Illumina HiSeq	Phase_I	180425217	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743011	0.89663	.	.	ENSG00000121879	ENST00000263967	D	0.82167	-1.58	5.39	5.39	0.77823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.88465	0.3058	10	0.35671	T	0.21	-13.7115	19.5188	0.95177	0.0:0.0:1.0:0.0	.	777	P42336	PK3CA_HUMAN	M	777	ENSP00000263967:R777M	ENSP00000263967:R777M	R	+	2	0	PIK3CA	180425217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.311000	0.96282	2.691000	0.91804	0.563000	0.77884	AGG		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MRPL47	57129	broad.mit.edu	37	3	179320486	179320486	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:179320486T>G	ENST00000476781.1	-	2	227	c.198A>C	c.(196-198)gaA>gaC	p.E66D	NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000472629.1_5'Flank|MRPL47_ENST00000259038.2_Missense_Mutation_p.E46D|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000493866.1_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.E66D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CATCAAAAAATTCTTCTAGTC	0.378																																					p.E66D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A198C	3						.						86.0	95.0	92.0					3																	179320486		2203	4300	6503	180803180	SO:0001583	missense	57129	exon2			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.198A>C	3.37:g.179320486T>G	ENSP00000417602:p.Glu66Asp	Somatic		Capture	Illumina HiSeq	Phase_I	180803180	NM_020409	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905524	0.72868	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.37915	1.17;1.26	5.94	5.94	0.96194	.	0.183136	0.45867	D	0.000321	T	0.40094	0.1103	L	0.49778	1.585	0.80722	D	1	B;B	0.28258	0.028;0.205	B;B	0.35312	0.035;0.2	T	0.24977	-1.0145	10	0.52906	T	0.07	-25.849	15.3901	0.74735	0.0:0.0:0.0:1.0	.	46;66	Q9HD33-2;Q9HD33	.;RM47_HUMAN	D	66;46	ENSP00000417602:E66D;ENSP00000259038:E46D	ENSP00000259038:E46D	E	-	3	2	MRPL47	180803180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.173000	0.42472	2.275000	0.75901	0.528000	0.53228	GAA		0.378	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409	
USP13	8975	broad.mit.edu	37	3	179408031	179408031	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:179408031G>T	ENST00000263966.3	+	3	768	c.297G>T	c.(295-297)aaG>aaT	p.K99N	USP13_ENST00000496897.1_Missense_Mutation_p.K34N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	99					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K99N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTTCAGAAGGTAAGAGGGG	0.373																																					p.K99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	3						.						142.0	136.0	138.0					3																	179408031		2203	4300	6503	180890725	SO:0001583	missense	8975	exon3			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.297G>T	3.37:g.179408031G>T	ENSP00000263966:p.Lys99Asn	Somatic		Capture	Illumina HiSeq	Phase_I	180890725	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658787	0.29515	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16324	2.35;2.42	4.91	0.863	0.19062	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.36672	1.1	0.54753	D	0.999987	P;P	0.36789	0.57;0.57	B;B	0.29353	0.101;0.065	T	0.27673	-1.0067	10	0.22109	T	0.4	-25.949	9.1016	0.36671	0.4169:0.0:0.5831:0.0	.	99;99	Q92995;A8K2S3	UBP13_HUMAN;.	N	99;34	ENSP00000263966:K99N;ENSP00000417146:K34N	ENSP00000263966:K99N	K	+	3	2	USP13	180890725	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.685000	0.37659	0.281000	0.22233	-0.258000	0.10820	AAG		0.373	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
TTC14	151613	broad.mit.edu	37	3	180321070	180321070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:180321070G>T	ENST00000296015.4	+	3	577	c.445G>T	c.(445-447)Gga>Tga	p.G149*	TTC14_ENST00000382584.4_Nonsense_Mutation_p.G149*|TTC14_ENST00000412756.2_Nonsense_Mutation_p.G149*|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	149	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.G149*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATCTGTTTAGGAAGTGGTAT	0.368																																					p.G149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G445T	3						.						201.0	188.0	192.0					3																	180321070		2203	4300	6503	181803764	SO:0001587	stop_gained	151613	exon3			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.445G>T	3.37:g.180321070G>T	ENSP00000296015:p.Gly149*	Somatic		Capture	Illumina HiSeq	Phase_I	181803764	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540698	0.96474	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	.	.	.	5.71	5.71	0.89125	.	0.051096	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-15.0145	16.1285	0.81410	0.0:0.1335:0.8665:0.0	.	.	.	.	X	149;149;149;149;49;49	.	ENSP00000296015:G149X	G	+	1	0	TTC14	181803764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.680000	0.91292	0.655000	0.94253	GGA		0.368	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
CCDC39	339829	broad.mit.edu	37	3	180364983	180364983	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:180364983C>T	ENST00000442201.2	-	11	1530	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E555K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	471					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E555K(1)|p.E471K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAATTAATTTCTCCCTTTAAC	0.323																																					p.E471K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1411A	3						.						97.0	85.0	89.0					3																	180364983		1781	4058	5839	181847677	SO:0001583	missense	339829	exon11			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1411G>A	3.37:g.180364983C>T	ENSP00000405708:p.Glu471Lys	Somatic		Capture	Illumina HiSeq	Phase_I	181847677	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732073	0.89390	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.77098	-1.07;-1.07	5.41	5.41	0.78517	.	0.213714	0.47852	D	0.000202	T	0.75737	0.3890	L	0.61218	1.895	0.45899	D	0.998749	P	0.36222	0.544	B	0.33295	0.161	T	0.74651	-0.3594	10	0.33141	T	0.24	-19.6315	19.1905	0.93664	0.0:1.0:0.0:0.0	.	471	Q9UFE4	CCD39_HUMAN	K	555;471	ENSP00000273654:E555K;ENSP00000405708:E471K	ENSP00000273654:E555K	E	-	1	0	CCDC39	181847677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.634000	0.67833	2.712000	0.92718	0.650000	0.86243	GAA		0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
SATB1	6304	broad.mit.edu	37	3	18436062	18436062	+	Silent	SNP	C	C	T	rs149307419		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:18436062C>T	ENST00000338745.6	-	7	2832	c.1098G>A	c.(1096-1098)tcG>tcA	p.S366S	SATB1_ENST00000417717.2_Silent_p.S366S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.S366S|SATB1_ENST00000475083.1_5'Flank	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	366					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S366S(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTGTTGGTCGAAACCTGTT	0.473																																					p.S366S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1098A	3						.						197.0	190.0	192.0					3																	18436062		2203	4300	6503	18411066	SO:0001819	synonymous_variant	6304	exon7				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1098G>A	3.37:g.18436062C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18411066	NM_002971	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	CCDS2631.1																																																																																				0.473	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	
CCDC39	339829	broad.mit.edu	37	3	180377338	180377338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:180377338G>A	ENST00000442201.2	-	6	759	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	CCDC39_ENST00000273654.4_Missense_Mutation_p.R298C	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	214					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.R298C(1)|p.R214C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAATCTTACGAAAATCTTGT	0.348																																					p.R214C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C640T	3						.						243.0	223.0	230.0					3																	180377338		1870	4112	5982	181860032	SO:0001583	missense	339829	exon6			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.640C>T	3.37:g.180377338G>A	ENSP00000405708:p.Arg214Cys	Somatic		Capture	Illumina HiSeq	Phase_I	181860032	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812733	0.70912	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.25250	1.81;1.81	5.65	3.84	0.44239	.	0.258546	0.42420	D	0.000716	T	0.50463	0.1617	M	0.82630	2.6	0.58432	D	0.999998	D	0.89917	1.0	D	0.68765	0.96	T	0.53989	-0.8360	10	0.87932	D	0	-5.55	10.8821	0.46944	0.0674:0.0:0.8023:0.1303	.	214	Q9UFE4	CCD39_HUMAN	C	298;214	ENSP00000273654:R298C;ENSP00000405708:R214C	ENSP00000273654:R298C	R	-	1	0	CCDC39	181860032	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.947000	0.70242	0.729000	0.32403	-0.196000	0.12772	CGT		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
MCCC1	56922	broad.mit.edu	37	3	182756918	182756918	+	Missense_Mutation	SNP	C	C	T	rs369093010		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:182756918C>T	ENST00000265594.4	-	12	1419	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000492597.1_Missense_Mutation_p.E316K|MCCC1_ENST00000539926.1_Missense_Mutation_p.E290K	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	425	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.E425K(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACGGAAACTTCGTCTCCTGAA	0.448																																					p.E425K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1273A	3						.						94.0	84.0	87.0					3																	182756918		2203	4300	6503	184239612	SO:0001583	missense	56922	exon12			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1273G>A	3.37:g.182756918C>T	ENSP00000265594:p.Glu425Lys	Somatic		Capture	Illumina HiSeq	Phase_I	184239612	NM_020166	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787003	0.90367	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.02	4.19	0.49359	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.173223	0.64402	D	0.000008	D	0.87744	0.6254	M	0.65975	2.015	0.80722	D	1	P;P;D	0.60160	0.92;0.92;0.987	P;P;P	0.60236	0.542;0.542;0.871	D	0.86980	0.2103	10	0.49607	T	0.09	.	12.6226	0.56612	0.0:0.8772:0.0:0.1228	.	378;316;425	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	K	425;316;275;290;378;378	ENSP00000265594:E425K;ENSP00000419898:E316K;ENSP00000441253:E290K;ENSP00000420433:E378K	ENSP00000265594:E425K	E	-	1	0	MCCC1	184239612	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	5.762000	0.68809	0.827000	0.34685	0.650000	0.86243	GAA		0.448	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
KLHL6	89857	broad.mit.edu	37	3	183217608	183217608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183217608G>A	ENST00000341319.3	-	4	952	c.917C>T	c.(916-918)tCg>tTg	p.S306L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	306					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.S306L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGTGCGTTCCGAAATGATCTG	0.527																																					p.S306L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917T	3						.						67.0	53.0	58.0					3																	183217608		2203	4300	6503	184700302	SO:0001583	missense	89857	exon4			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.917C>T	3.37:g.183217608G>A	ENSP00000341342:p.Ser306Leu	Somatic		Capture	Illumina HiSeq	Phase_I	184700302	NM_130446	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978333	0.74360	.	.	ENSG00000172578	ENST00000341319	T	0.75260	-0.92	5.13	5.13	0.70059	.	0.057025	0.64402	D	0.000001	T	0.79575	0.4469	M	0.79258	2.445	0.58432	D	0.999993	P	0.52061	0.95	P	0.45343	0.477	D	0.83912	0.0296	10	0.87932	D	0	.	18.9602	0.92674	0.0:0.0:1.0:0.0	.	306	Q8WZ60	KLHL6_HUMAN	L	306	ENSP00000341342:S306L	ENSP00000341342:S306L	S	-	2	0	KLHL6	184700302	1.000000	0.71417	0.951000	0.38953	0.939000	0.58152	9.420000	0.97426	2.561000	0.86390	0.561000	0.74099	TCG		0.527	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	
YEATS2	55689	broad.mit.edu	37	3	183439812	183439812	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183439812C>A	ENST00000305135.5	+	5	620	c.425C>A	c.(424-426)tCt>tAt	p.S142Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	142					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.S142Y(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAAAGTGATTCTTTATCTCAG	0.398																																					p.S142Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425A	3						.						141.0	132.0	135.0					3																	183439812		1942	4146	6088	184922506	SO:0001583	missense	55689	exon5			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.425C>A	3.37:g.183439812C>A	ENSP00000306983:p.Ser142Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	184922506	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496871	0.85069	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.54479	0.57	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.59436	1.845	0.80722	D	1	D	0.53312	0.959	P	0.45856	0.495	T	0.62746	-0.6789	10	0.87932	D	0	-19.3274	17.9856	0.89155	0.0:1.0:0.0:0.0	.	142	Q9ULM3	YETS2_HUMAN	Y	142	ENSP00000306983:S142Y	ENSP00000306983:S142Y	S	+	2	0	YEATS2	184922506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.576000	0.74023	2.702000	0.92279	0.591000	0.81541	TCT		0.398	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
YEATS2	55689	broad.mit.edu	37	3	183521882	183521882	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183521882C>T	ENST00000305135.5	+	27	3885	c.3690C>T	c.(3688-3690)tgC>tgT	p.C1230C	AC131160.1_ENST00000401347.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1230					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.C1230C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCACTGGTGCCGCTGTCATG	0.557																																					p.C1230C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3690T	3						.						102.0	101.0	102.0					3																	183521882		2036	4202	6238	185004576	SO:0001819	synonymous_variant	55689	exon27			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3690C>T	3.37:g.183521882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	185004576	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	CCDS43175.1																																																																																				0.557	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
PARL	55486	broad.mit.edu	37	3	183547473	183547473	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183547473T>C	ENST00000317096.4	-	10	1113	c.1053A>G	c.(1051-1053)gaA>gaG	p.E351E	PARL_ENST00000311101.5_Silent_p.E301E|PARL_ENST00000435888.1_Silent_p.E267E	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	351					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.E351E(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCAAATCAGTTCATGACCGT	0.433																																					p.E351E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1053G	3						.						141.0	145.0	143.0					3																	183547473		2203	4300	6503	185030167	SO:0001819	synonymous_variant	55486	exon10			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1053A>G	3.37:g.183547473T>C		Somatic		Capture	Illumina HiSeq	Phase_I	185030167	NM_018622	Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.898|9.898	1.206167|1.206167	0.22205|0.22205	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000418450|ENST00000417784	.|.	.|.	.|.	5.71|5.71	2.07|2.07	0.26955|0.26955	.|.	.|.	.|.	.|.	.|.	T|T	0.46092|0.46092	0.1375|0.1375	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27773|0.27773	-1.0064|-1.0064	4|4	.|.	.|.	.|.	-16.3183|-16.3183	3.628|3.628	0.08120|0.08120	0.1951:0.4353:0.0:0.3695|0.1951:0.4353:0.0:0.3695	.|.	.|.	.|.	.|.	S|A	84|143	.|.	.|.	N|T	-|-	2|1	0|0	PARL|PARL	185030167|185030167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.016000|1.016000	0.29976|0.29976	0.446000|0.446000	0.26666|0.26666	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.433	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622	
HTR3D	200909	broad.mit.edu	37	3	183756057	183756057	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183756057G>T	ENST00000382489.3	+	6	879				HTR3D_ENST00000334128.2_Missense_Mutation_p.K130N|HTR3D_ENST00000453435.1_Missense_Mutation_p.K84N|HTR3D_ENST00000428798.2_Missense_Mutation_p.K255N	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.K130N(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GAGACCAAAAGCGAGGTGTGT	0.493																																					p.K130N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G390T	3						.						103.0	90.0	95.0					3																	183756057		2203	4300	6503	185238751	SO:0001627	intron_variant	200909	exon4			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.879+30G>T	3.37:g.183756057G>T		Somatic		Capture	Illumina HiSeq	Phase_I	185238751	NM_182537	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	2.790	-0.251605	0.05867	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000453435	T;T;T	0.75821	-0.79;-0.97;-0.67	3.52	1.64	0.23874	.	.	.	.	.	T	0.50905	0.1643	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.008;0.005;0.008	T	0.41893	-0.9483	9	0.56958	D	0.05	.	4.3353	0.11083	0.1223:0.0:0.6559:0.2218	.	130;84;130	Q70Z44-2;Q70Z44-3;F6WC43	.;.;.	N	130;255;84	ENSP00000334315:K130N;ENSP00000405409:K255N;ENSP00000389268:K84N	ENSP00000334315:K130N	K	+	3	2	HTR3D	185238751	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	1.933000	0.40153	0.278000	0.22164	-0.291000	0.09656	AAG		0.493	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537	
HTR3C	170572	broad.mit.edu	37	3	183778126	183778126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183778126C>A	ENST00000318351.1	+	9	1364	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	444					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L444I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGTCATTGTCCTCTGGAACAC	0.552																																					p.L444I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1330A	3						.						217.0	183.0	195.0					3																	183778126		2203	4300	6503	185260820	SO:0001583	missense	170572	exon9			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1330C>A	3.37:g.183778126C>A	ENSP00000322617:p.Leu444Ile	Somatic		Capture	Illumina HiSeq	Phase_I	185260820	NM_130770	A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646399	0.47258	.	.	ENSG00000178084	ENST00000318351	D	0.82255	-1.59	3.96	3.07	0.35406	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.099058	0.37577	N	0.002022	D	0.87617	0.6222	M	0.73217	2.22	0.21897	N	0.999484	D	0.76494	0.999	D	0.85130	0.997	T	0.77432	-0.2590	10	0.72032	D	0.01	-20.0484	5.1191	0.14851	0.2023:0.688:0.0:0.1097	.	444	Q8WXA8	5HT3C_HUMAN	I	444	ENSP00000322617:L444I	ENSP00000322617:L444I	L	+	1	0	HTR3C	185260820	0.997000	0.39634	0.933000	0.37362	0.228000	0.25075	2.846000	0.48262	0.847000	0.35167	0.558000	0.71614	CTC		0.552	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770	
EIF2B5	8893	broad.mit.edu	37	3	183855762	183855762	+	Missense_Mutation	SNP	C	C	T	rs113994055		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183855762C>T	ENST00000273783.3	+	4	705	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R195C|RP11-778D9.12_ENST00000608135.1_RNA|RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	195			R -> C (in VWM; with ovarian failure). {ECO:0000269|PubMed:12707859}.|R -> H (in VWM; Cree leukoencephalopathy type). {ECO:0000269|PubMed:12325082}.		astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.R195C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCACCCAACTCGTTGCCACGA	0.483																																					p.R195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	3	GRCh37	CM031178	EIF2B5	M	rs113994055	.						53.0	52.0	52.0					3																	183855762		2203	4300	6503	185338456	SO:0001583	missense	8893	exon4			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.583C>T	3.37:g.183855762C>T	ENSP00000273783:p.Arg195Cys	Somatic		Capture	Illumina HiSeq	Phase_I	185338456	NM_003907	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.181819	0.78677	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.98649	-5.02;-5.05	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	M	0.88570	2.965	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99719	1.1009	9	0.87932	D	0	-14.1422	12.6499	0.56755	0.2766:0.7234:0.0:0.0	.	195	Q13144	EI2BE_HUMAN	C	195	ENSP00000273783:R195C;ENSP00000409142:R195C	ENSP00000273783:R195C	R	+	1	0	EIF2B5	185338456	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.060000	0.57477	2.627000	0.88993	0.655000	0.94253	CGT		0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		
ABCF3	55324	broad.mit.edu	37	3	183907218	183907218	+	Missense_Mutation	SNP	A	A	G	rs200262122		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183907218A>G	ENST00000429586.2	+	12	1285	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.E361G	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	367	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E367G(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGTGGCTGGAGAATTACCTG	0.572																																					p.E367G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1100G	3						.						82.0	77.0	79.0					3																	183907218		2203	4300	6503	185389912	SO:0001583	missense	55324	exon12			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1100A>G	3.37:g.183907218A>G	ENSP00000411471:p.Glu367Gly	Somatic		Capture	Illumina HiSeq	Phase_I	185389912	NM_018358	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731904	0.69189	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93604	-3.25;-3.25	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.984	D	0.97318	0.9942	10	0.72032	D	0.01	-23.6493	13.4779	0.61318	1.0:0.0:0.0:0.0	.	361;367	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	G	367;361	ENSP00000411471:E367G;ENSP00000292808:E361G	ENSP00000292808:E361G	E	+	2	0	ABCF3	185389912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.444000	0.90323	1.790000	0.52503	0.383000	0.25322	GAG		0.572	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	
EIF4G1	1981	broad.mit.edu	37	3	184040693	184040693	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184040693T>C	ENST00000346169.2	+	13	2151	c.1880T>C	c.(1879-1881)aTg>aCg	p.M627T	EIF4G1_ENST00000435046.2_Missense_Mutation_p.M431T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.M431T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.M463T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.M587T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.M634T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.M540T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.M627T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.M634T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.M627T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.M463T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.M587T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.M540T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.M634T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	627	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.M627T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGCCAGTATGCAGAAGCCA	0.483																																					p.M634T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1901C	3						.						199.0	186.0	191.0					3																	184040693		2203	4300	6503	185523387	SO:0001583	missense	1981	exon13			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1880T>C	3.37:g.184040693T>C	ENSP00000316879:p.Met627Thr	Somatic		Capture	Illumina HiSeq	Phase_I	185523387	NM_001194947	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452820	0.43531	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.4	5.4	0.78164	.	0.080006	0.85682	D	0.000000	T	0.57080	0.2029	L	0.53249	1.67	0.80722	D	1	P;B;B;B	0.35894	0.526;0.094;0.042;0.094	B;B;B;B	0.36766	0.232;0.032;0.014;0.032	T	0.54330	-0.8310	10	0.13853	T	0.58	-10.9814	15.5933	0.76558	0.0:0.0:0.0:1.0	.	634;627;627;634	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	T	627;587;540;627;634;634;568;463;634;540;627;627;634;587;463;463;431;431	ENSP00000316879:M627T;ENSP00000391935:M587T;ENSP00000376320:M540T;ENSP00000391412:M627T;ENSP00000413159:M634T;ENSP00000371767:M634T;ENSP00000403269:M568T;ENSP00000317600:M463T;ENSP00000338020:M634T;ENSP00000407682:M540T;ENSP00000343450:M627T;ENSP00000323737:M627T;ENSP00000416255:M634T;ENSP00000395974:M587T;ENSP00000398145:M463T;ENSP00000399858:M463T;ENSP00000411826:M431T;ENSP00000404754:M431T	ENSP00000323737:M627T	M	+	2	0	EIF4G1	185523387	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.525000	0.81892	2.270000	0.75569	0.460000	0.39030	ATG		0.483	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EIF4G1	1981	broad.mit.edu	37	3	184044740	184044740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184044740G>T	ENST00000346169.2	+	23	3668	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*	EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E937*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E938*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E970*|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E1093*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E1140*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E1047*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E1133*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E1140*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.E1134*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E969*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E1094*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E1046*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E1140*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1133					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E1133*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTACCCACAGAAAGCACAGA	0.478																																					p.E1140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3418T	3						.						145.0	144.0	145.0					3																	184044740		2203	4300	6503	185527434	SO:0001587	stop_gained	1981	exon23			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3397G>T	3.37:g.184044740G>T	ENSP00000316879:p.Glu1133*	Somatic		Capture	Illumina HiSeq	Phase_I	185527434	NM_001194947	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.039534|8.039534	0.98624|0.98624	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.242292|.	0.40908|.	D|.	0.000983|.	.|T	.|0.74527	.|0.3728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72450	.|-0.4290	.|3	0.11794|.	T|.	0.64|.	-14.2837|-14.2837	18.0774|18.0774	0.89432|0.89432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	1133;1093;1046;1140;969;1140;1047;1134;1133;1140;1094;970;938;937|186	.|.	ENSP00000323737:E1133X|.	E|Q	+|+	1|3	0|2	EIF4G1|EIF4G1	185527434|185527434	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.579000|2.579000	0.46059|0.46059	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EIF4G1	1981	broad.mit.edu	37	3	184045126	184045126	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184045126G>A	ENST00000346169.2	+	24	3822	c.3551G>A	c.(3550-3552)cGg>cAg	p.R1184Q	EIF4G1_ENST00000435046.2_Missense_Mutation_p.R988Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R989Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1021Q|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1144Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1191Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1098Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1184Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1191Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1185Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1020Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1145Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1097Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1191Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1184					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R1184Q(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTACCAAGCGGAGCTTCAGC	0.667																																					p.R1191Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3572A	3						.						42.0	46.0	44.0					3																	184045126		2203	4300	6503	185527820	SO:0001583	missense	1981	exon24			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3551G>A	3.37:g.184045126G>A	ENSP00000316879:p.Arg1184Gln	Somatic		Capture	Illumina HiSeq	Phase_I	185527820	NM_001194947	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278460	0.95459	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04406	3.86;3.87;3.78;3.86;3.67;3.86;3.78;3.85;3.86;3.86;3.87;3.66;3.64;3.63	5.2	4.32	0.51571	.	0.206126	0.40385	N	0.001108	T	0.14874	0.0359	M	0.74881	2.28	0.49687	D	0.999816	D;P;P	0.67145	0.996;0.627;0.627	P;B;B	0.55087	0.768;0.087;0.087	T	0.08106	-1.0738	10	0.27082	T	0.32	-12.8924	15.3438	0.74317	0.0:0.0:0.8595:0.1405	.	1191;1185;1184	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	Q	1184;1144;1097;1191;1020;1191;1098;1185;1184;1191;1145;1021;989;988	ENSP00000316879:R1184Q;ENSP00000391935:R1144Q;ENSP00000376320:R1097Q;ENSP00000371767:R1191Q;ENSP00000317600:R1020Q;ENSP00000338020:R1191Q;ENSP00000407682:R1098Q;ENSP00000343450:R1185Q;ENSP00000323737:R1184Q;ENSP00000416255:R1191Q;ENSP00000395974:R1145Q;ENSP00000399858:R1021Q;ENSP00000411826:R989Q;ENSP00000404754:R988Q	ENSP00000323737:R1184Q	R	+	2	0	EIF4G1	185527820	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	1.402000	0.46780	-0.169000	0.13324	CGG		0.667	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
THPO	7066	broad.mit.edu	37	3	184090805	184090805	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184090805G>T	ENST00000204615.7	-	6	772	c.558C>A	c.(556-558)acC>acA	p.T186T	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000445696.2_Silent_p.T182T	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	186					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.T186T(1)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACTAGAGAGGTTCTGCTGG	0.572																																					p.L181I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C541A	3						.						82.0	86.0	84.0					3																	184090805		2203	4300	6503	185573499	SO:0001819	synonymous_variant	7066	exon6				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.558C>A	3.37:g.184090805G>T		Somatic		Capture	Illumina HiSeq	Phase_I	185573499	NM_001177598	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	ENST00000204615.7	37	CCDS3265.1																																																																																				0.572	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460	
CHRD	8646	broad.mit.edu	37	3	184102959	184102959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184102959C>T	ENST00000204604.1	+	14	1997	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	CHRD_ENST00000545352.1_Missense_Mutation_p.A214V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.A544V|CHRD_ENST00000450923.1_Missense_Mutation_p.A584V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	584	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.A584V(1)|p.A297V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGTCACTGCCCACCTCCTT	0.607																																					p.A584V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1751T	3						.						87.0	89.0	88.0					3																	184102959		2203	4300	6503	185585653	SO:0001583	missense	8646	exon14			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1751C>T	3.37:g.184102959C>T	ENSP00000204604:p.Ala584Val	Somatic		Capture	Illumina HiSeq	Phase_I	185585653	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405949	0.83230	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.29	4.4	0.53042	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.73962	2.25	0.48395	D	0.999645	B;P;P;D	0.59767	0.105;0.953;0.813;0.986	B;P;P;P	0.57502	0.202;0.548;0.583;0.822	T	0.62421	-0.6858	10	0.87932	D	0	-17.5104	12.594	0.56459	0.0:0.9137:0.0:0.0863	.	214;544;584;584	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	V	584;584;544;214;297	ENSP00000204604:A584V;ENSP00000408972:A584V;ENSP00000334036:A544V;ENSP00000442948:A214V	ENSP00000204604:A584V	A	+	2	0	CHRD	185585653	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.942000	0.56614	2.662000	0.90505	0.655000	0.94253	GCC		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
CHRD	8646	broad.mit.edu	37	3	184106750	184106750	+	Nonsense_Mutation	SNP	C	C	T	rs571279136		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184106750C>T	ENST00000204604.1	+	22	3025	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	CHRD_ENST00000545352.1_Nonsense_Mutation_p.R469*|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Nonsense_Mutation_p.R887*|CHRD_ENST00000450923.1_Nonsense_Mutation_p.R927*	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	927	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R927*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGGAGAGTCGATGCTGTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16961	0.0		0.001	False		,,,				2504	0.0				p.R927X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2779T	3						.						95.0	80.0	85.0					3																	184106750		2203	4300	6503	185589444	SO:0001587	stop_gained	8646	exon22			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2779C>T	3.37:g.184106750C>T	ENSP00000204604:p.Arg927*	Somatic		Capture	Illumina HiSeq	Phase_I	185589444	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Nonsense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	39	7.758227	0.98474	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	.	.	.	4.93	1.97	0.26223	.	0.295775	0.28109	N	0.016569	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6881	5.2273	0.15401	0.3621:0.541:0.0:0.0969	.	.	.	.	X	927;927;887;469	.	ENSP00000204604:R927X	R	+	1	2	CHRD	185589444	0.814000	0.29104	0.945000	0.38365	0.509000	0.34042	1.766000	0.38491	0.488000	0.27723	-0.136000	0.14681	CGA		0.627	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
VPS8	23355	broad.mit.edu	37	3	184588555	184588555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184588555G>T	ENST00000437079.3	+	21	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	VPS8_ENST00000287546.4_Missense_Mutation_p.D566Y|VPS8_ENST00000446204.2_Missense_Mutation_p.D564Y|VPS8_ENST00000436792.2_Missense_Mutation_p.D564Y	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	566							zinc ion binding (GO:0008270)	p.D566Y(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAAGTGCCCAGACCAAGGAAA	0.398																																					p.D566Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1696T	3						.						70.0	70.0	70.0					3																	184588555		1887	4105	5992	186071249	SO:0001583	missense	23355	exon20			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1696G>T	3.37:g.184588555G>T	ENSP00000397879:p.Asp566Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	186071249	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685932	0.68157	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.21734	1.99;1.99;1.99;2.21	5.35	5.35	0.76521	.	0.218026	0.47852	D	0.000205	T	0.29158	0.0725	L	0.48642	1.525	0.80722	D	1	P;P	0.46142	0.873;0.504	P;B	0.46049	0.502;0.413	T	0.02288	-1.1182	10	0.66056	D	0.02	-10.7659	19.1024	0.93279	0.0:0.0:1.0:0.0	.	564;564	Q8N3P4-2;Q8N3P4-3	.;.	Y	566;566;564;564	ENSP00000287546:D566Y;ENSP00000397879:D566Y;ENSP00000404704:D564Y;ENSP00000405483:D564Y	ENSP00000287546:D566Y	D	+	1	0	VPS8	186071249	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.148000	0.94652	2.503000	0.84419	0.563000	0.77884	GAC		0.398	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
EHHADH	1962	broad.mit.edu	37	3	184922411	184922411	+	Missense_Mutation	SNP	G	G	A	rs141664962	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184922411G>A	ENST00000231887.3	-	6	778	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	EHHADH_ENST00000456310.1_Missense_Mutation_p.R139C	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	235	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.R235C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGACTGCACGGACACAAGCC	0.537													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0				p.R139C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C415T	3						.	G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	103.0	100.0	101.0		415,703	2.7	0.3	3	dbSNP_134	101	0,8600		0,0,4300	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	139/628,235/724	184922411	2,13004	2203	4300	6503	186405105	SO:0001583	missense	1962	exon6			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.703C>T	3.37:g.184922411G>A	ENSP00000231887:p.Arg235Cys	Somatic		Capture	Illumina HiSeq	Phase_I	186405105	NM_001166415	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941581	0.53079	4.54E-4	0.0	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.72282	-0.64;-0.64	5.5	2.66	0.31614	.	0.204230	0.44688	D	0.000430	T	0.72550	0.3474	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	P	0.59056	0.851	T	0.71170	-0.4671	10	0.72032	D	0.01	-0.3244	3.1662	0.06536	0.153:0.1375:0.5675:0.1419	.	235	Q08426	ECHP_HUMAN	C	235;235;139	ENSP00000231887:R235C;ENSP00000387746:R139C	ENSP00000231887:R235C	R	-	1	0	EHHADH	186405105	0.999000	0.42202	0.254000	0.24359	0.164000	0.22412	2.811000	0.47986	0.702000	0.31825	0.650000	0.86243	CGT		0.537	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
MAP3K13	9175	broad.mit.edu	37	3	185181425	185181425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185181425C>T	ENST00000265026.3	+	8	1700	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R249*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R456*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R312*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R312*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R456R(2)|p.R456*(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAACTGATTCGAAGGCGCAG	0.468																																					p.R456X												.	.	4	Substitution - Nonsense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.C1366T	3						.						125.0	111.0	116.0					3																	185181425		2203	4300	6503	186664119	SO:0001587	stop_gained	9175	exon8			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1366C>T	3.37:g.185181425C>T	ENSP00000265026:p.Arg456*	Somatic		Capture	Illumina HiSeq	Phase_I	186664119	NM_004721		Nonsense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314606	0.60524	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.82	3.83	0.44106	.	0.070231	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4722	0.84114	0.2502:0.7498:0.0:0.0	.	.	.	.	X	249;456;312;312;456;201	.	ENSP00000265026:R456X	R	+	1	2	MAP3K13	186664119	1.000000	0.71417	0.918000	0.36340	0.408000	0.30992	4.054000	0.57434	1.428000	0.47296	0.655000	0.94253	CGA		0.468	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
LIPH	200879	broad.mit.edu	37	3	185232207	185232207	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185232207T>G	ENST00000296252.4	-	8	1226	c.1085A>C	c.(1084-1086)aAa>aCa	p.K362T	LIPH_ENST00000424591.2_Missense_Mutation_p.K328T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	362					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.K362T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTGATTGATTTTGGATTCTGT	0.338																																					p.K362T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1085C	3						.						298.0	253.0	268.0					3																	185232207		2203	4299	6502	186714901	SO:0001583	missense	200879	exon8			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1085A>C	3.37:g.185232207T>G	ENSP00000296252:p.Lys362Thr	Somatic		Capture	Illumina HiSeq	Phase_I	186714901	NM_139248	A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.202405|2.202405	0.38905|0.38905	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000435679|ENST00000296252;ENST00000424591	.|D;D	.|0.88896	.|-2.44;-2.24	4.87|4.87	0.895|0.895	0.19247|0.19247	.|.	0.357125|0.357125	0.34676|0.34676	N|N	0.003765|0.003765	T|T	0.75474|0.75474	0.3854|0.3854	N|N	0.21448|0.21448	0.665|0.665	0.30878|0.30878	N|N	0.731738|0.731738	.|B;B	.|0.26672	.|0.156;0.021	.|B;B	.|0.21546	.|0.035;0.009	T|T	0.64322|0.64322	-0.6435|-0.6435	7|10	0.49607|0.19147	T|T	0.09|0.46	-17.6436|-17.6436	5.6114|5.6114	0.17408|0.17408	0.0:0.1605:0.1438:0.6957|0.0:0.1605:0.1438:0.6957	.|.	.|328;362	.|A2IBA6;Q8WWY8	.|.;LIPH_HUMAN	Q|T	40|362;328	.|ENSP00000296252:K362T;ENSP00000396384:K328T	ENSP00000390228:K40Q|ENSP00000296252:K362T	K|K	-|-	1|2	0|0	LIPH|LIPH	186714901|186714901	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	0.414000|0.414000	0.21164|0.21164	0.353000|0.353000	0.24079|0.24079	0.379000|0.379000	0.24179|0.24179	AAA|AAA		0.338	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
LIPH	200879	broad.mit.edu	37	3	185252727	185252727	+	Silent	SNP	T	T	C	rs367651367		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185252727T>C	ENST00000296252.4	-	2	384	c.243A>G	c.(241-243)acA>acG	p.T81T	LIPH_ENST00000424591.2_Silent_p.T81T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	81					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.T81T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAGGGGAGCCTGTTGGCCTGA	0.458																																					p.T81T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A243G	3						.						167.0	160.0	162.0					3																	185252727		2203	4300	6503	186735421	SO:0001819	synonymous_variant	200879	exon2			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.243A>G	3.37:g.185252727T>C		Somatic		Capture	Illumina HiSeq	Phase_I	186735421	NM_139248	A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	CCDS3272.1																																																																																				0.458	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
SENP2	59343	broad.mit.edu	37	3	185332508	185332508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185332508G>A	ENST00000296257.5	+	11	1330	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	SENP2_ENST00000545472.1_Missense_Mutation_p.D354N|SENP2_ENST00000427465.2_Missense_Mutation_p.D188N	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	364					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.D364N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGAACGGACGATCTCCTTGA	0.393																																					p.D364N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1090A	3						.						103.0	100.0	101.0					3																	185332508		2203	4300	6503	186815202	SO:0001583	missense	59343	exon11			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1090G>A	3.37:g.185332508G>A	ENSP00000296257:p.Asp364Asn	Somatic		Capture	Illumina HiSeq	Phase_I	186815202	NM_021627	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032491	0.75504	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	T;T;T;T	0.32023	1.86;1.87;1.9;1.47	5.46	5.46	0.80206	.	0.069871	0.53938	D	0.000044	T	0.29945	0.0749	L	0.29908	0.895	0.41359	D	0.987419	D;D	0.67145	0.996;0.996	P;P	0.50490	0.642;0.642	T	0.01198	-1.1421	10	0.25106	T	0.35	-15.1915	12.9077	0.58162	0.0:0.163:0.837:0.0	.	354;364	B4DQ42;Q9HC62	.;SENP2_HUMAN	N	354;364;235;188;71	ENSP00000439653:D354N;ENSP00000296257:D364N;ENSP00000394562:D188N;ENSP00000399201:D71N	ENSP00000296257:D364N	D	+	1	0	SENP2	186815202	0.996000	0.38824	1.000000	0.80357	0.961000	0.63080	3.466000	0.53071	2.734000	0.93682	0.655000	0.94253	GAT		0.393	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	
IGF2BP2	10644	broad.mit.edu	37	3	185367284	185367284	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185367284G>T	ENST00000382199.2	-	14	1595	c.1500C>A	c.(1498-1500)aaC>aaA	p.N500K	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.N457K|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.N443K|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.N506K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	500					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.N500K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGTTAAAGAAGTTTTCCTCTT	0.522																																					p.N500K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1500A	3						.						85.0	79.0	81.0					3																	185367284		2203	4300	6503	186849978	SO:0001583	missense	10644	exon14			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1500C>A	3.37:g.185367284G>T	ENSP00000371634:p.Asn500Lys	Somatic		Capture	Illumina HiSeq	Phase_I	186849978	NM_006548	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675399	0.47781	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.51	2.56	0.30785	.	0.198131	0.52532	D	0.000076	T	0.61438	0.2347	M	0.76838	2.35	0.58432	D	0.999997	B;P;P;P;B;B	0.36144	0.342;0.539;0.539;0.539;0.359;0.404	B;B;B;B;B;B	0.39299	0.166;0.233;0.233;0.296;0.229;0.117	T	0.58880	-0.7558	10	0.30854	T	0.27	-16.134	9.5284	0.39178	0.2054:0.0:0.7946:0.0	.	394;437;443;506;457;500	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	K	500;443;506;457	ENSP00000371634:N500K;ENSP00000413787:N443K;ENSP00000410242:N506K;ENSP00000320204:N457K	ENSP00000320204:N457K	N	-	3	2	IGF2BP2	186849978	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.176000	0.42500	0.951000	0.37770	0.453000	0.30009	AAC		0.522	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548	
ETV5	2119	broad.mit.edu	37	3	185823136	185823136	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185823136G>A	ENST00000306376.5	-	5	436	c.190C>T	c.(190-192)Cct>Tct	p.P64S	ETV5_ENST00000537818.1_Missense_Mutation_p.P106S|ETV5_ENST00000434744.1_Missense_Mutation_p.P64S|DGKG_ENST00000447054.1_5'Flank	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	64					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P64S(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCATCATCAGGAACTTGTGCT	0.328			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.P64S			Dom	yes		3	3q28	2119	ets variant gene 5		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C190T	3						.						119.0	120.0	120.0					3																	185823136		2203	4300	6503	187305830	SO:0001583	missense	2119	exon5			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.190C>T	3.37:g.185823136G>A	ENSP00000306894:p.Pro64Ser	Somatic		Capture	Illumina HiSeq	Phase_I	187305830	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005184	0.74932	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.6	5.6	0.85130	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.445309	0.25975	N	0.027106	T	0.58623	0.2135	M	0.80183	2.485	0.53688	D	0.999979	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.939	T	0.56511	-0.7967	10	0.40728	T	0.16	.	16.8995	0.86109	0.0:0.0:1.0:0.0	.	64;106	P41161;B7Z7D7	ETV5_HUMAN;.	S	64;64;106;64;64;64;64	ENSP00000306894:P64S;ENSP00000413755:P64S;ENSP00000441737:P106S;ENSP00000389707:P64S;ENSP00000412171:P64S;ENSP00000405157:P64S;ENSP00000388737:P64S	ENSP00000306894:P64S	P	-	1	0	ETV5	187305830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.862000	0.75484	2.786000	0.95864	0.563000	0.77884	CCT		0.328	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
TBCCD1	55171	broad.mit.edu	37	3	186274304	186274304	+	Missense_Mutation	SNP	G	G	T	rs143443442	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186274304G>T	ENST00000424280.1	-	4	1232	c.753C>A	c.(751-753)ttC>ttA	p.F251L	TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000446782.1_Missense_Mutation_p.F155L|TBCCD1_ENST00000338733.5_Missense_Mutation_p.F251L	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	251					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.F251L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTAGAAAGAGAAAGTCTTAG	0.448																																					p.F251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C753A	3						.						63.0	63.0	63.0					3																	186274304		2203	4300	6503	187756998	SO:0001583	missense	55171	exon4			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.753C>A	3.37:g.186274304G>T	ENSP00000411253:p.Phe251Leu	Somatic		Capture	Illumina HiSeq	Phase_I	187756998	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083633	0.76642	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.88664	-2.35;-2.35;-2.41	5.65	3.71	0.42584	.	0.049916	0.85682	D	0.000000	D	0.91164	0.7217	M	0.71581	2.175	0.41988	D	0.990836	D;D	0.76494	0.991;0.999	P;P	0.62649	0.894;0.905	D	0.89014	0.3430	10	0.49607	T	0.09	-22.3136	5.0769	0.14636	0.4542:0.0:0.5458:0.0	.	155;251	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	L	251;251;155	ENSP00000411253:F251L;ENSP00000341652:F251L;ENSP00000397091:F155L	ENSP00000341652:F251L	F	-	3	2	TBCCD1	187756998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.848000	0.62874	0.779000	0.33543	0.655000	0.94253	TTC		0.448	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
HRG	3273	broad.mit.edu	37	3	186394906	186394906	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186394906C>A	ENST00000232003.4	+	7	892	c.812C>A	c.(811-813)tCt>tAt	p.S271Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	271					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.S271Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATGAGCGTTCTTCTACCACC	0.512																																					p.S271Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812A	3						.						186.0	157.0	167.0					3																	186394906		2203	4300	6503	187877600	SO:0001583	missense	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.812C>A	3.37:g.186394906C>A	ENSP00000232003:p.Ser271Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	187877600	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	6.789	0.514615	0.12944	.	.	ENSG00000113905	ENST00000232003	T	0.19669	2.13	2.59	-2.04	0.07343	.	0.762076	0.11656	N	0.542375	T	0.13243	0.0321	L	0.36672	1.1	0.09310	N	1	B	0.25850	0.136	B	0.28553	0.091	T	0.28490	-1.0042	10	0.49607	T	0.09	.	2.4562	0.04530	0.4017:0.3272:0.0:0.2711	.	271	P04196	HRG_HUMAN	Y	271	ENSP00000232003:S271Y	ENSP00000232003:S271Y	S	+	2	0	HRG	187877600	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.862000	0.04263	-0.522000	0.06417	-0.350000	0.07774	TCT		0.512	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
HRG	3273	broad.mit.edu	37	3	186395078	186395078	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186395078A>G	ENST00000232003.4	+	7	1064	c.984A>G	c.(982-984)caA>caG	p.Q328Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	328					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.Q328Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAGTTGTCAACATGCCACTT	0.502																																					p.Q328Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A984G	3						.						167.0	149.0	155.0					3																	186395078		2203	4300	6503	187877772	SO:0001819	synonymous_variant	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.984A>G	3.37:g.186395078A>G		Somatic		Capture	Illumina HiSeq	Phase_I	187877772	NM_000412	B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																				0.502	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
KNG1	3827	broad.mit.edu	37	3	186460082	186460082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186460082G>T	ENST00000265023.4	+	10	2109	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	633					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E633*(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ACAAATGAAAGAATCTTATTA	0.368																																					p.E633X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1897T	3						.						100.0	96.0	97.0					3																	186460082		1824	4082	5906	187942776	SO:0001587	stop_gained	3827	exon10				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1897G>T	3.37:g.186460082G>T	ENSP00000265023:p.Glu633*	Somatic		Capture	Illumina HiSeq	Phase_I	187942776	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Nonsense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	37	6.155952	0.97334	.	.	ENSG00000113889	ENST00000265023	.	.	.	5.28	3.34	0.38264	.	0.310671	0.23926	N	0.043181	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1728	6.5644	0.22503	0.0996:0.2298:0.6706:0.0	.	.	.	.	X	633	.	.	E	+	1	0	KNG1	187942776	0.011000	0.17503	0.292000	0.24919	0.017000	0.09413	0.620000	0.24403	1.378000	0.46305	0.563000	0.77884	GAA		0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
RFC4	5984	broad.mit.edu	37	3	186512483	186512483	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186512483T>G	ENST00000392481.2	-	5	655	c.374A>C	c.(373-375)aAt>aCt	p.N125T	RFC4_ENST00000433496.1_Missense_Mutation_p.N125T|RFC4_ENST00000296273.2_Missense_Mutation_p.N125T	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	125					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N125T(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTGAGCAAAATTTTTCACTTT	0.368																																					p.N125T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A374C	3						.						143.0	138.0	140.0					3																	186512483		2203	4300	6503	187995177	SO:0001583	missense	5984	exon5				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.374A>C	3.37:g.186512483T>G	ENSP00000376272:p.Asn125Thr	Somatic		Capture	Illumina HiSeq	Phase_I	187995177	NM_181573	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	9.915	1.210678	0.22289	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.76	1.62	0.23740	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.438609	0.27816	N	0.017723	T	0.80025	0.4548	N	0.04724	-0.175	0.39726	D	0.971533	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.67825	-0.5570	10	0.07813	T	0.8	.	7.462	0.27300	0.0:0.0793:0.3184:0.6023	.	125;125	B4DM41;P35249	.;RFC4_HUMAN	T	125	ENSP00000399769:N125T;ENSP00000376272:N125T;ENSP00000296273:N125T;ENSP00000411300:N125T;ENSP00000413065:N125T	ENSP00000296273:N125T	N	-	2	0	RFC4	187995177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.721000	0.25911	0.491000	0.27793	0.533000	0.62120	AAT		0.368	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	
MASP1	5648	broad.mit.edu	37	3	186937986	186937986	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186937986C>G	ENST00000337774.5	-	16	2362	c.1973G>C	c.(1972-1974)gGc>gCc	p.G658A		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	658	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.G658A(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTACCACTGGCCTCTTTCTCT	0.532											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G658A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1973C	3						.						90.0	84.0	86.0					3																	186937986		2203	4300	6503	188420680	SO:0001583	missense	5648	exon16			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1973G>C	3.37:g.186937986C>G	ENSP00000336792:p.Gly658Ala	Somatic	2011	Capture	Illumina HiSeq	Phase_I	188420680	NM_001879	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016547	0.35606	.	.	ENSG00000127241	ENST00000337774	D	0.94758	-3.51	6.13	4.29	0.51040	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.91216	0.7232	M	0.66560	2.04	0.28134	N	0.930085	B	0.24317	0.101	B	0.12156	0.007	T	0.82600	-0.0377	9	0.26408	T	0.33	.	5.3384	0.15971	0.0:0.5968:0.2137:0.1895	.	658	P48740	MASP1_HUMAN	A	658	ENSP00000336792:G658A	ENSP00000336792:G658A	G	-	2	0	MASP1	188420680	0.011000	0.17503	0.986000	0.45419	0.988000	0.76386	0.410000	0.21098	1.590000	0.49995	0.644000	0.83932	GGC		0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
TP63	8626	broad.mit.edu	37	3	189612028	189612028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:189612028C>T	ENST00000264731.3	+	14	1869	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	TP63_ENST00000449992.1_Nonsense_Mutation_p.R415*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Nonsense_Mutation_p.R500*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R509*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R496*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R590*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	594	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.R594*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532										HNSCC(45;0.13)																											p.R500X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1498T	3						.						75.0	74.0	74.0					3																	189612028		2203	4300	6503	191094722	SO:0001587	stop_gained	8626	exon12			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1780C>T	3.37:g.189612028C>T	ENSP00000264731:p.Arg594*	Somatic		Capture	Illumina HiSeq	Phase_I	191094722	NM_001114980	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477981	0.84747	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.9	5.02	0.67125	.	0.067257	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2588	15.6344	0.76941	0.1382:0.8618:0.0:0.0	.	.	.	.	X	594;590;509;500;415;496	.	.	R	+	1	2	TP63	191094722	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	5.580000	0.67464	1.479000	0.48272	0.650000	0.86243	CGA		0.532	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
LEPREL1	55214	broad.mit.edu	37	3	189690782	189690782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:189690782C>A	ENST00000319332.5	-	11	1777	c.1580G>T	c.(1579-1581)aGc>aTc	p.S527I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.S346I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	527					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.S527I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGACGAGCGCTCTTCAGTGG	0.393																																					p.S346I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037T	3						.						76.0	68.0	71.0					3																	189690782		2203	4300	6503	191173476	SO:0001583	missense	55214	exon11				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1580G>T	3.37:g.189690782C>A	ENSP00000316881:p.Ser527Ile	Somatic		Capture	Illumina HiSeq	Phase_I	191173476	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633056	0.87660	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.37752	1.18;1.52	5.58	5.58	0.84498	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.66939	2.045	0.80722	D	1	P	0.37985	0.613	B	0.38264	0.269	T	0.26710	-1.0095	9	.	.	.	-15.3007	18.5624	0.91105	0.0:1.0:0.0:0.0	.	527	Q8IVL5	P3H2_HUMAN	I	527;346	ENSP00000316881:S527I;ENSP00000408947:S346I	.	S	-	2	0	LEPREL1	191173476	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.487000	0.81328	2.611000	0.88343	0.655000	0.94253	AGC		0.393	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
CLDN16	10686	broad.mit.edu	37	3	190126202	190126202	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:190126202A>C	ENST00000264734.2	+	4	940	c.692A>C	c.(691-693)aAa>aCa	p.K231T	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	231					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.K231T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATCCAATATAAATTTGGTTGG	0.428																																					p.K231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A692C	3						.						224.0	213.0	217.0					3																	190126202		2203	4300	6503	191608896	SO:0001583	missense	10686	exon4			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.692A>C	3.37:g.190126202A>C	ENSP00000264734:p.Lys231Thr	Somatic		Capture	Illumina HiSeq	Phase_I	191608896	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263860	0.80358	.	.	ENSG00000113946	ENST00000264734	D	0.88975	-2.45	5.6	5.6	0.85130	.	0.130888	0.52532	D	0.000073	D	0.91439	0.7298	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.62491	0.903	D	0.91629	0.5317	10	0.51188	T	0.08	-13.2127	14.9561	0.71113	1.0:0.0:0.0:0.0	.	231	Q9Y5I7	CLD16_HUMAN	T	231	ENSP00000264734:K231T	ENSP00000264734:K231T	K	+	2	0	CLDN16	191608896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.746000	0.74866	2.120000	0.65058	0.455000	0.32223	AAA		0.428	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580	
FGF12	2257	broad.mit.edu	37	3	192125840	192125840	+	Missense_Mutation	SNP	C	C	T	rs551785451		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:192125840C>T	ENST00000454309.2	-	1	998	c.173G>A	c.(172-174)cGc>cAc	p.R58H	FGF12_ENST00000445105.2_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	58					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.R58H(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CGGCCTCTTGCGGCCGCTGCA	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		13284	0.001		0.0	False		,,,				2504	0.0				p.R58H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173A	3						.						74.0	86.0	82.0					3																	192125840		2180	4234	6414	193608534	SO:0001583	missense	2257	exon1			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.173G>A	3.37:g.192125840C>T	ENSP00000413496:p.Arg58His	Somatic		Capture	Illumina HiSeq	Phase_I	193608534	NM_021032	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914789	0.52546	.	.	ENSG00000114279	ENST00000454309	T	0.78924	-1.22	5.32	5.32	0.75619	.	0.928821	0.09233	N	0.830296	T	0.76407	0.3983	L	0.46157	1.445	0.80722	D	1	B	0.18310	0.027	B	0.14023	0.01	T	0.65533	-0.6145	10	0.54805	T	0.06	.	17.9852	0.89154	0.0:1.0:0.0:0.0	.	58	P61328	FGF12_HUMAN	H	58	ENSP00000413496:R58H	ENSP00000413496:R58H	R	-	2	0	FGF12	193608534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.919000	0.48836	2.490000	0.84030	0.555000	0.69702	CGC		0.677	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032	
MB21D2	151963	broad.mit.edu	37	3	192516962	192516962	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:192516962C>T	ENST00000392452.2	-	2	1009	c.689G>A	c.(688-690)cGc>cAc	p.R230H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	230							protein complex binding (GO:0032403)	p.R228H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ATACAACATGCGACTACTCCC	0.473																																					p.R230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	3						.						135.0	124.0	128.0					3																	192516962		2203	4300	6503	193999656	SO:0001583	missense	151963	exon2			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.689G>A	3.37:g.192516962C>T	ENSP00000376246:p.Arg230His	Somatic		Capture	Illumina HiSeq	Phase_I	193999656	NM_178496	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067309	0.76301	.	.	ENSG00000180611	ENST00000392452	T	0.08458	3.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00195	-1.1932	10	0.48119	T	0.1	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	230	Q8IYB1	M21D2_HUMAN	H	230	ENSP00000376246:R230H	ENSP00000376246:R230H	R	-	2	0	MB21D2	193999656	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.783000	0.85696	2.652000	0.90054	0.655000	0.94253	CGC		0.473	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496	
ATP13A5	344905	broad.mit.edu	37	3	193031825	193031825	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193031825C>A	ENST00000342358.4	-	19	2433	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N	ATP13A5_ENST00000495496.1_5'Flank|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	772						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.K772N(1)		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)		TGCTCACTTTCTTCCCAGGTC	0.527																																					p.K772N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2316T	3						.						125.0	124.0	125.0					3																	193031825		2203	4300	6503	194514519	SO:0001583	missense	344905	exon19			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.2316G>T	3.37:g.193031825C>A	ENSP00000341942:p.Lys772Asn	Somatic		Capture	Illumina HiSeq	Phase_I	194514519	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106865	0.20714	.	.	ENSG00000187527	ENST00000342358	D	0.84730	-1.89	5.56	1.19	0.21007	HAD-like domain (1);	0.716692	0.13519	N	0.381848	T	0.61502	0.2352	N	0.03029	-0.43	0.09310	N	1	B	0.12630	0.006	B	0.23852	0.049	T	0.50964	-0.8765	10	0.18276	T	0.48	-2.5531	3.3156	0.07032	0.2641:0.4132:0.2402:0.0825	.	772	Q4VNC0	AT135_HUMAN	N	772	ENSP00000341942:K772N	ENSP00000341942:K772N	K	-	3	2	ATP13A5	194514519	0.000000	0.05858	0.002000	0.10522	0.303000	0.27691	-0.036000	0.12185	0.685000	0.31468	0.655000	0.94253	AAG		0.527	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A4	84239	broad.mit.edu	37	3	193180591	193180591	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193180591C>T	ENST00000342695.4	-	13	1805	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G476S|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G495S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	495						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G495S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGTCCAAGCCGTCCCTTGTT	0.483																																					p.G495S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1483A	3						.						111.0	100.0	104.0					3																	193180591		2203	4300	6503	194663285	SO:0001583	missense	84239	exon13			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1483G>A	3.37:g.193180591C>T	ENSP00000339182:p.Gly495Ser	Somatic		Capture	Illumina HiSeq	Phase_I	194663285	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	34	5.401612	0.96030	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;D	0.89343	-0.31;-0.31;-2.5	5.86	5.86	0.93980	ATPase, cation-transporting, domain N (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.73217	2.22	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;P;D	0.67900	0.866;0.866;0.954	D	0.93155	0.6553	10	0.49607	T	0.09	-19.4347	18.7503	0.91812	0.0:1.0:0.0:0.0	.	495;495;495	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	S	476;495;495	ENSP00000376238:G476S;ENSP00000339182:G495S;ENSP00000295548:G495S	ENSP00000295548:G495S	G	-	1	0	ATP13A4	194663285	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.301000	0.78850	2.781000	0.95711	0.650000	0.86243	GGC		0.483	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
ATP13A4	84239	broad.mit.edu	37	3	193182796	193182796	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193182796C>T	ENST00000342695.4	-	12	1716	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G446D|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G465D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	465						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G465D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGAAGATGCCTCTCTTCTT	0.478																																					p.G465D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	3						.						150.0	135.0	140.0					3																	193182796		2203	4300	6503	194665490	SO:0001583	missense	84239	exon12			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1394G>A	3.37:g.193182796C>T	ENSP00000339182:p.Gly465Asp	Somatic		Capture	Illumina HiSeq	Phase_I	194665490	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697620	0.88830	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.89552	-2.53;-2.53;-2.53	6.05	6.05	0.98169	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.74389	2.26	0.50632	D	0.999888	D;D;D	0.59767	0.982;0.982;0.986	P;P;P	0.62089	0.864;0.835;0.898	D	0.91405	0.5146	10	0.30854	T	0.27	-19.71	19.5894	0.95501	0.0:1.0:0.0:0.0	.	465;465;465	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	D	446;465;465	ENSP00000376238:G446D;ENSP00000339182:G465D;ENSP00000295548:G465D	ENSP00000295548:G465D	G	-	2	0	ATP13A4	194665490	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	2.162000	0.42367	2.878000	0.98634	0.650000	0.86243	GGC		0.478	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
KCNH8	131096	broad.mit.edu	37	3	19551879	19551879	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19551879T>C	ENST00000328405.2	+	12	2331	c.2065T>C	c.(2065-2067)Tct>Cct	p.S689P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	689					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S689P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAAACAAATCTATGGTCTC	0.363																																					p.S689P	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2065C	3						.						102.0	95.0	97.0					3																	19551879		2203	4300	6503	19526883	SO:0001583	missense	131096	exon12			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2065T>C	3.37:g.19551879T>C	ENSP00000328813:p.Ser689Pro	Somatic		Capture	Illumina HiSeq	Phase_I	19526883	NM_144633	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	8.045	0.764802	0.15914	.	.	ENSG00000183960	ENST00000328405	D	0.98531	-4.98	4.93	4.93	0.64822	.	.	.	.	.	D	0.94262	0.8157	N	0.25144	0.715	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	D	0.90967	0.4817	8	.	.	.	.	9.7515	0.40478	0.0:0.0807:0.0:0.9193	.	689	Q96L42	KCNH8_HUMAN	P	689	ENSP00000328813:S689P	.	S	+	1	0	KCNH8	19526883	0.998000	0.40836	1.000000	0.80357	0.943000	0.58893	0.382000	0.20635	2.191000	0.70037	0.533000	0.62120	TCT		0.363	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
KCNH8	131096	broad.mit.edu	37	3	19575144	19575144	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19575144G>T	ENST00000328405.2	+	16	3143	c.2877G>T	c.(2875-2877)tgG>tgT	p.W959C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	959	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.W959C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGACATTTGGAGTGTGGATC	0.512																																					p.W959C	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2877T	3						.						92.0	90.0	91.0					3																	19575144		2203	4300	6503	19550148	SO:0001583	missense	131096	exon16			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2877G>T	3.37:g.19575144G>T	ENSP00000328813:p.Trp959Cys	Somatic		Capture	Illumina HiSeq	Phase_I	19550148	NM_144633	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421964	0.43020	.	.	ENSG00000183960	ENST00000328405	D	0.99150	-5.49	5.58	4.7	0.59300	.	0.000000	0.30920	U	0.008609	D	0.98679	0.9557	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	D	0.98701	1.0700	9	.	.	.	.	15.7672	0.78135	0.0:0.0:0.8624:0.1376	.	959	Q96L42	KCNH8_HUMAN	C	959	ENSP00000328813:W959C	.	W	+	3	0	KCNH8	19550148	1.000000	0.71417	0.911000	0.35937	0.798000	0.45092	5.190000	0.65104	1.318000	0.45170	0.655000	0.94253	TGG		0.512	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
ATP13A4	84239	broad.mit.edu	37	3	193272538	193272538	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193272538C>A	ENST00000342695.4	-	1	373	c.51G>T	c.(49-51)gaG>gaT	p.E17D	ATP13A4-AS1_ENST00000431512.1_RNA|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E17D|ATP13A4-AS1_ENST00000426459.1_RNA|ATP13A4_ENST00000295548.3_Missense_Mutation_p.E17D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	17						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E17D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATCTCATTCTCTTCTCCTT	0.517																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	3						.						311.0	267.0	282.0					3																	193272538		2203	4300	6503	194755232	SO:0001583	missense	84239	exon1			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.51G>T	3.37:g.193272538C>A	ENSP00000339182:p.Glu17Asp	Somatic		Capture	Illumina HiSeq	Phase_I	194755232	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512748	0.44660	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.18657	2.2;2.2;2.2	5.8	-0.382	0.12481	.	0.000000	0.64402	D	0.000016	T	0.09555	0.0235	N	0.24115	0.695	0.35587	D	0.806744	B;B	0.12013	0.004;0.005	B;B	0.17979	0.011;0.02	T	0.29822	-0.9999	10	0.10377	T	0.69	-5.6626	5.074	0.14620	0.0:0.4491:0.1429:0.408	.	17;17	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	D	17	ENSP00000376238:E17D;ENSP00000339182:E17D;ENSP00000295548:E17D	ENSP00000295548:E17D	E	-	3	2	ATP13A4	194755232	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	-0.163000	0.09997	0.112000	0.17975	0.655000	0.94253	GAG		0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
XXYLT1	152002	broad.mit.edu	37	3	194877219	194877219	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:194877219G>A	ENST00000310380.6	-	3	852	c.744C>T	c.(742-744)ggC>ggT	p.G248G	XXYLT1_ENST00000355729.4_Silent_p.G45G|XXYLT1_ENST00000429994.1_Silent_p.G102G|XXYLT1_ENST00000437101.1_Silent_p.G45G	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	248						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.G248G(1)									CGATGATGGCGCCTGGCAGGA	0.572																																					p.G248G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	3						.						64.0	70.0	68.0					3																	194877219		1935	4136	6071	196358508	SO:0001819	synonymous_variant	152002	exon3			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.744C>T	3.37:g.194877219G>A		Somatic		Capture	Illumina HiSeq	Phase_I	196358508	NM_152531	D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	CCDS43188.1																																																																																				0.572	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531	
ACAP2	23527	broad.mit.edu	37	3	195102672	195102672	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:195102672C>T	ENST00000326793.6	-	3	421	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	64	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R64Q(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGCCAGGTCTCGAATCCCATT	0.303																																					p.R64Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	3						.						84.0	87.0	86.0					3																	195102672		2203	4300	6503	196583961	SO:0001583	missense	23527	exon3				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.191G>A	3.37:g.195102672C>T	ENSP00000324287:p.Arg64Gln	Somatic		Capture	Illumina HiSeq	Phase_I	196583961	NM_012287	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216110	0.95104	.	.	ENSG00000114331	ENST00000326793;ENST00000439666	T;T	0.04317	7.01;3.65	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.91	T	0.02009	-1.1230	10	0.23891	T	0.37	.	16.6479	0.85181	0.0:1.0:0.0:0.0	.	20;64	C9J8L1;Q15057	.;ACAP2_HUMAN	Q	64;20	ENSP00000324287:R64Q;ENSP00000411336:R20Q	ENSP00000324287:R64Q	R	-	2	0	ACAP2	196583961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.838000	0.75359	2.509000	0.84616	0.563000	0.77884	CGA		0.303	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
MUC4	4585	broad.mit.edu	37	3	195517493	195517493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:195517493C>A	ENST00000463781.3	-	2	1417	c.958G>T	c.(958-960)Gct>Tct	p.A320S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A320S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	325					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A320S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTAGAAAAAGCTGTTGTGTCC	0.458																																					p.A320S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G958T	3						.						248.0	241.0	243.0					3																	195517493		2027	4170	6197	197001888	SO:0001583	missense	4585	exon2			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.958G>T	3.37:g.195517493C>A	ENSP00000417498:p.Ala320Ser	Somatic		Capture	Illumina HiSeq	Phase_I	197001888	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.368	0.626319	0.14257	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.39229	1.09;1.1	3.7	-4.37	0.03633	.	.	.	.	.	T	0.24084	0.0583	L	0.43923	1.385	0.09310	N	1	P;B	0.42409	0.779;0.19	B;B	0.34873	0.191;0.055	T	0.28964	-1.0027	9	0.06891	T	0.86	.	10.3094	0.43699	0.0:0.2969:0.0:0.7031	.	320;325	E7ESK3;Q99102	.;MUC4_HUMAN	S	320;320;294	ENSP00000417498:A320S;ENSP00000420243:A320S	ENSP00000376209:A294S	A	-	1	0	MUC4	197001888	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.081000	0.01367	-1.009000	0.03400	0.627000	0.83407	GCT		0.458	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195518250	195518250	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:195518250A>G	ENST00000463781.3	-	2	660	c.201T>C	c.(199-201)aaT>aaC	p.N67N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.N67N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	67					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N67N(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATATGTCCTGATTAGAGGTCC	0.488																																					p.N67N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T201C	3						.						317.0	299.0	305.0					3																	195518250		2064	4208	6272	197002645	SO:0001819	synonymous_variant	4585	exon2			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.201T>C	3.37:g.195518250A>G		Somatic		Capture	Illumina HiSeq	Phase_I	197002645	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.488	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TFRC	7037	broad.mit.edu	37	3	195778839	195778839	+	Missense_Mutation	SNP	C	C	T	rs141165322		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:195778839C>T	ENST00000360110.4	-	19	2426	c.2257G>A	c.(2257-2259)Gtt>Att	p.V753I	TFRC_ENST00000535031.1_Missense_Mutation_p.V471I|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.V672I|TFRC_ENST00000392396.3_Missense_Mutation_p.V753I	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	753	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.V753I(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ATGTCCCAAACGTCACCAGAG	0.423			T	BCL6	NHL								C|||	1	0.000199681	0.0	0.0	5008	,	,		20238	0.0		0.001	False		,,,				2504	0.0				p.V753I			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2257A	3						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	99.0	91.0	94.0		2257,2257	2.3	1.0	3	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TFRC	NM_001128148.1,NM_003234.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	753/761,753/761	195778839	1,13005	2203	4300	6503	197263236	SO:0001583	missense	7037	exon19			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2257G>A	3.37:g.195778839C>T	ENSP00000353224:p.Val753Ile	Somatic		Capture	Illumina HiSeq	Phase_I	197263236	NM_001128148	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.023	-0.684384	0.03353	0.0	1.16E-4	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.06	2.26	0.28386	Transferrin receptor-like, dimerisation domain (2);	0.234451	0.49916	N	0.000140	T	0.15955	0.0384	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.02654	T	1	-16.0869	9.1453	0.36928	0.0:0.2071:0.0:0.7929	.	753	P02786	TFR1_HUMAN	I	753;672;753;471	ENSP00000353224:V753I;ENSP00000390133:V672I;ENSP00000376197:V753I;ENSP00000437753:V471I	ENSP00000353224:V753I	V	-	1	0	TFRC	197263236	0.999000	0.42202	0.982000	0.44146	0.967000	0.64934	0.800000	0.27042	0.189000	0.20188	-0.290000	0.09829	GTT		0.423	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		
FBXO45	200933	broad.mit.edu	37	3	196311014	196311014	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:196311014G>T	ENST00000311630.6	+	3	983	c.686G>T	c.(685-687)aGa>aTa	p.R229I	FBXO45_ENST00000440469.1_Missense_Mutation_p.R50I	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	229	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)		p.R229I(1)		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)		ATAGGAGAAAGAATTCGAGTC	0.378																																					p.R229I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686T	3						.						116.0	111.0	112.0					3																	196311014		1825	4090	5915	197795411	SO:0001583	missense	200933	exon3			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.686G>T	3.37:g.196311014G>T	ENSP00000310332:p.Arg229Ile	Somatic		Capture	Illumina HiSeq	Phase_I	197795411	NM_001105573	A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196390	0.78902	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.69926	-0.44;-0.44	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	0.79787	0.4506	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81324	-0.0984	10	0.87932	D	0	-16.1612	18.7709	0.91892	0.0:0.0:1.0:0.0	.	229	P0C2W1	FBSP1_HUMAN	I	50;229	ENSP00000389868:R50I;ENSP00000310332:R229I	ENSP00000310332:R229I	R	+	2	0	FBXO45	197795411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	AGA		0.378	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2		
NRROS	375387	broad.mit.edu	37	3	196387932	196387932	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:196387932G>T	ENST00000328557.4	+	3	1621	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	473					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G473V(1)									GAGGGCTGTGGCCTGGGGGCA	0.607																																					p.G473V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1418T	3						.						69.0	69.0	69.0					3																	196387932		2203	4300	6503	197872329	SO:0001583	missense	375387	exon3			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1418G>T	3.37:g.196387932G>T	ENSP00000328625:p.Gly473Val	Somatic		Capture	Illumina HiSeq	Phase_I	197872329	NM_198565		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653916	0.47362	.	.	ENSG00000174004	ENST00000328557	T	0.53423	0.62	5.83	5.83	0.93111	.	0.157911	0.56097	D	0.000027	T	0.66257	0.2771	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	T	0.67964	-0.5534	10	0.59425	D	0.04	.	14.2981	0.66329	0.0706:0.0:0.9294:0.0	.	473	Q86YC3	LRC33_HUMAN	V	473	ENSP00000328625:G473V	ENSP00000328625:G473V	G	+	2	0	LRRC33	197872329	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	3.570000	0.53834	2.749000	0.94314	0.655000	0.94253	GGC		0.607	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	
PIGX	54965	broad.mit.edu	37	3	196449287	196449287	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:196449287G>T	ENST00000421265.1	+	3	108	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000314118.4_Splice_Site_p.D19Y			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	60					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.D19Y(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GTCTTACAGAGACCTTTTAAT	0.358																																					p.D60Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178T	3						.						117.0	118.0	118.0					3																	196449287		2203	4300	6503	197933684	SO:0001630	splice_region_variant	54965	exon3			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.54-1G>T	3.37:g.196449287G>T		Somatic		Capture	Illumina HiSeq	Phase_I	197933684	NM_001166304	Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274399	0.80580	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.91	5.91	0.95273	.	0.182059	0.47093	D	0.000241	T	0.54447	0.1859	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.983	T	0.52449	-0.8574	10	0.66056	D	0.02	-19.5136	17.2126	0.86935	0.0:0.0:1.0:0.0	.	60;60	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	Y	19;60;19;60;19;19	ENSP00000409073:D19Y;ENSP00000376192:D60Y;ENSP00000317301:D19Y;ENSP00000296333:D60Y;ENSP00000416446:D19Y;ENSP00000390804:D19Y	ENSP00000296333:D60Y	D	+	1	0	PIGX	197933684	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.227000	0.65305	2.793000	0.96121	0.655000	0.94253	GAC		0.358	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861	Missense_Mutation
CHL1	10752	broad.mit.edu	37	3	431045	431045	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:431045G>A	ENST00000256509.2	+	20	3000	c.2358G>A	c.(2356-2358)ttG>ttA	p.L786L	CHL1_ENST00000397491.2_Silent_p.L770L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L786L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACCACACATTGCGGGTGATGA	0.532																																					p.L786L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2358A	3						.						140.0	120.0	127.0					3																	431045		2203	4300	6503	406045	SO:0001819	synonymous_variant	10752	exon20			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2358G>A	3.37:g.431045G>A		Somatic		Capture	Illumina HiSeq	Phase_I	406045	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	CCDS2556.1																																																																																				0.532	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	436423	436423	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:436423A>C	ENST00000256509.2	+	24	3604	c.2962A>C	c.(2962-2964)Act>Cct	p.T988P	CHL1_ENST00000397491.2_Missense_Mutation_p.T972P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.T988P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAACATTACAACTCCATCAAA	0.383																																					p.T988P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2962C	3						.						85.0	82.0	83.0					3																	436423		2203	4300	6503	411423	SO:0001583	missense	10752	exon24			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2962A>C	3.37:g.436423A>C	ENSP00000256509:p.Thr988Pro	Somatic		Capture	Illumina HiSeq	Phase_I	411423	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.37|11.37	1.617539|1.617539	0.28801|0.28801	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.55234	.|0.53;0.53	5.47|5.47	0.295|0.295	0.15752|0.15752	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.231412	.|0.42294	.|D	.|0.000732	T|T	0.38026|0.38026	0.1025|0.1025	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;P	.|0.43750	.|0.001;0.001;0.816	.|B;B;P	.|0.45712	.|0.019;0.008;0.491	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.25106	.|T	.|0.35	.|.	4.5117|4.5117	0.11915|0.11915	0.574:0.0:0.2918:0.1342|0.574:0.0:0.2918:0.1342	.|.	.|972;972;988	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	H|P	174|988;972	.|ENSP00000256509:T988P;ENSP00000380628:T972P	.|ENSP00000256509:T988P	Q|T	+|+	3|1	2|0	CHL1|CHL1	411423|411423	0.872000|0.872000	0.30054|0.30054	0.004000|0.004000	0.12327|0.12327	0.924000|0.924000	0.55760|0.55760	2.444000|2.444000	0.44890|0.44890	-0.174000|-0.174000	0.10743|0.10743	0.482000|0.482000	0.46254|0.46254	CAA|ACT		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN4	152330	broad.mit.edu	37	3	2928808	2928808	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:2928808T>A	ENST00000397461.1	+	9	1224	c.840T>A	c.(838-840)ctT>ctA	p.L280L	CNTN4_ENST00000418658.1_Silent_p.L280L|CNTN4_ENST00000358480.3_Silent_p.L61L|CNTN4_ENST00000427331.1_Silent_p.L280L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	280	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L280L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGGAATTCTTGAGATCCCTA	0.408																																					p.L280L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T840A	3						.						101.0	95.0	97.0					3																	2928808		1845	4102	5947	2903808	SO:0001819	synonymous_variant	152330	exon9			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.840T>A	3.37:g.2928808T>A		Somatic		Capture	Illumina HiSeq	Phase_I	2903808	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CNTN4	152330	broad.mit.edu	37	3	3085370	3085370	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3085370G>A	ENST00000397461.1	+	22	3177	c.2793G>A	c.(2791-2793)tcG>tcA	p.S931S	CNTN4_ENST00000418658.1_Silent_p.S931S|CNTN4_ENST00000397459.2_Silent_p.S603S|CNTN4_ENST00000358480.3_Silent_p.S712S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S603S|CNTN4_ENST00000427331.1_Silent_p.S931S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	931	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S931S(1)|p.S603S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAATGAGTCGGAAGTAAAAG	0.428																																					p.S931S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2793A	3						.						63.0	63.0	63.0					3																	3085370		2203	4300	6503	3060370	SO:0001819	synonymous_variant	152330	exon22			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2793G>A	3.37:g.3085370G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3060370	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CNTN4	152330	broad.mit.edu	37	3	3097837	3097837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3097837C>T	ENST00000397461.1	+	24	3398	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	CNTN4_ENST00000418658.1_Missense_Mutation_p.S1005L|CNTN4_ENST00000397459.2_Missense_Mutation_p.S677L|CNTN4_ENST00000358480.3_Missense_Mutation_p.S786L|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.S677L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S1005L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1005					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S1005L(1)|p.S677L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCTTCCACTTCGAATGCATGT	0.468																																					p.S1005L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3014T	3						.						121.0	109.0	113.0					3																	3097837		2203	4300	6503	3072837	SO:0001583	missense	152330	exon24			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3014C>T	3.37:g.3097837C>T	ENSP00000380602:p.Ser1005Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3072837	NM_175607	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768696	0.31320	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57595	0.45;0.45;0.45;0.45;0.39;0.39	5.65	5.65	0.86999	.	0.338109	0.29692	N	0.011441	T	0.46795	0.1411	L	0.42245	1.32	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.12837	0.008;0.001	T	0.41342	-0.9514	10	0.11182	T	0.66	.	19.7284	0.96174	0.0:1.0:0.0:0.0	.	1004;1005	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	1005;1005;1005;786;677;677	ENSP00000396010:S1005L;ENSP00000380602:S1005L;ENSP00000413642:S1005L;ENSP00000351267:S786L;ENSP00000380600:S677L;ENSP00000392077:S677L	ENSP00000351267:S786L	S	+	2	0	CNTN4	3072837	1.000000	0.71417	0.320000	0.25306	0.495000	0.33615	6.533000	0.73829	2.668000	0.90789	0.591000	0.81541	TCG		0.468	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
IL5RA	3568	broad.mit.edu	37	3	3137061	3137061	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3137061C>A	ENST00000446632.2	-	8	1351	c.777G>T	c.(775-777)gaG>gaT	p.E259D	IL5RA_ENST00000438560.1_Missense_Mutation_p.E259D|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.E259D|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.E259D|IL5RA_ENST00000430514.2_Missense_Mutation_p.E259D|IL5RA_ENST00000456302.1_Missense_Mutation_p.E259D|IL5RA_ENST00000311981.8_Missense_Mutation_p.E259D	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	259	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.E259D(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACACTGGTTTCTCCCATTGGA	0.358																																					p.E259D	GBM(169;430 2801 24955 28528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G777T	3						.						98.0	95.0	96.0					3																	3137061		2203	4300	6503	3112061	SO:0001583	missense	3568	exon8			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.777G>T	3.37:g.3137061C>A	ENSP00000412209:p.Glu259Asp	Somatic		Capture	Illumina HiSeq	Phase_I	3112061	NM_175728	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566167	0.27915	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.0	1.05	0.20165	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.628224	0.15477	N	0.260288	T	0.80358	0.4608	L	0.58510	1.815	0.80722	D	1	B;B;B;B	0.25955	0.085;0.112;0.138;0.068	B;B;B;B	0.22601	0.018;0.029;0.04;0.013	T	0.65228	-0.6219	10	0.17832	T	0.49	-2.3537	6.2453	0.20813	0.0:0.5534:0.2844:0.1623	.	259;259;259;259	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	D	259	ENSP00000412209:E259D;ENSP00000390753:E259D;ENSP00000256452:E259D;ENSP00000373358:E259D;ENSP00000309196:E259D;ENSP00000400400:E259D;ENSP00000392059:E259D	ENSP00000256452:E259D	E	-	3	2	IL5RA	3112061	0.564000	0.26602	0.872000	0.34217	0.994000	0.84299	-0.664000	0.05292	-0.104000	0.12154	0.655000	0.94253	GAG		0.358	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
IL5RA	3568	broad.mit.edu	37	3	3139831	3139831	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3139831G>T	ENST00000446632.2	-	6	1085	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	IL5RA_ENST00000438560.1_Missense_Mutation_p.L171I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.L171I|IL5RA_ENST00000418488.2_Missense_Mutation_p.L171I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L171I|IL5RA_ENST00000430514.2_Missense_Mutation_p.L171I|IL5RA_ENST00000456302.1_Missense_Mutation_p.L171I|IL5RA_ENST00000311981.8_Missense_Mutation_p.L171I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	171					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L171I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTATAGTAGAGAAAATACTGC	0.413																																					p.L171I	GBM(169;430 2801 24955 28528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511A	3						.						155.0	162.0	160.0					3																	3139831		2203	4300	6503	3114831	SO:0001583	missense	3568	exon6			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.511C>A	3.37:g.3139831G>T	ENSP00000412209:p.Leu171Ile	Somatic		Capture	Illumina HiSeq	Phase_I	3114831	NM_175728	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720605	0.68959	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.72	3.93	0.45458	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.304746	0.28671	N	0.014527	D	0.95962	0.8685	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.997	D;P;D;D;D	0.75020	0.98;0.885;0.914;0.985;0.953	D	0.95716	0.8762	10	0.72032	D	0.01	-18.9124	9.3165	0.37937	0.1652:0.0:0.8348:0.0	.	171;171;171;171;171	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	I	171	ENSP00000412209:L171I;ENSP00000390753:L171I;ENSP00000256452:L171I;ENSP00000388858:L171I;ENSP00000373358:L171I;ENSP00000309196:L171I;ENSP00000400400:L171I;ENSP00000392059:L171I;ENSP00000398117:L171I	ENSP00000256452:L171I	L	-	1	0	IL5RA	3114831	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.175000	0.31944	1.413000	0.46997	0.655000	0.94253	CTC		0.413	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
TRNT1	51095	broad.mit.edu	37	3	3179132	3179132	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3179132G>A	ENST00000251607.6	+	3	439	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	TRNT1_ENST00000280591.6_Missense_Mutation_p.A113T	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	113					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)	p.A113T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AACAATTACTGCCAGGGTGAG	0.368																																					p.A113T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337A	3						.						61.0	63.0	63.0					3																	3179132		2203	4300	6503	3154132	SO:0001583	missense	51095	exon3			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.337G>A	3.37:g.3179132G>A	ENSP00000251607:p.Ala113Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3154132	NM_182916	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	37	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	34	5.395911	0.96009	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.21191	2.02;2.02	5.25	5.25	0.73442	Poly A polymerase, head domain (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.84511	2.7	0.80722	D	1	P;D	0.61080	0.746;0.989	B;P	0.59643	0.43;0.861	T	0.55879	-0.8071	10	0.56958	D	0.05	0.0042	18.8582	0.92262	0.0:0.0:1.0:0.0	.	113;113	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	T	113	ENSP00000251607:A113T;ENSP00000280591:A113T	ENSP00000251607:A113T	A	+	1	0	TRNT1	3154132	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	9.474000	0.97718	2.447000	0.82792	0.655000	0.94253	GCC		0.368	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1		
TRNT1	51095	broad.mit.edu	37	3	3189273	3189273	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:3189273G>A	ENST00000251607.6	+	7	1044	c.942G>A	c.(940-942)aaG>aaA	p.K314K	TRNT1_ENST00000280591.6_Silent_p.K294K	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	314					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)	p.K314K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TGAGGTTGAAGATCGCAAAAG	0.338																																					p.K314K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	3						.						85.0	91.0	89.0					3																	3189273		2203	4300	6503	3164273	SO:0001819	synonymous_variant	51095	exon7			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.942G>A	3.37:g.3189273G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3164273	NM_182916	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.338	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1		
ITPR1	3708	broad.mit.edu	37	3	4723091	4723091	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:4723091C>T	ENST00000443694.2	+	23	3105	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.I1050I|ITPR1_ENST00000456211.2_Silent_p.I1026I|ITPR1_ENST00000357086.4_Silent_p.I1041I|ITPR1_ENST00000302640.8_Silent_p.I1035I|ITPR1_ENST00000423119.2_Silent_p.I1041I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1050					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.I1026I(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGAAGGCATCTTTGGAGGAA	0.413																																					p.I1041I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3123T	3						.						123.0	113.0	116.0					3																	4723091		1886	4130	6016	4698091	SO:0001819	synonymous_variant	3708	exon26			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3105C>T	3.37:g.4723091C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4698091	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.413	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4726036	4726036	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:4726036C>T	ENST00000443694.2	+	26	3519				ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000302640.8_Intron|ITPR1_ENST00000423119.2_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAGAGGTAAGCTCCTCCCCCA	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						141.0	156.0	151.0					3																	4726036		1929	4121	6050	4701036	SO:0001627	intron_variant	3708	.			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3519+6C>T	3.37:g.4726036C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4701036	.	E7EPX7|E9PDE9|Q14660|Q99897	Intron	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.408	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4821291	4821291	+	Missense_Mutation	SNP	G	G	A	rs373973399		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:4821291G>A	ENST00000443694.2	+	46	6304	c.6304G>A	c.(6304-6306)Gca>Aca	p.A2102T	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.A2102T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A2054T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A2069T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A2102T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A2069T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2117					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A2054T(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGTGAAAACGCAGAGAGGAT	0.502																																					p.A2069T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6205A	3						.						119.0	120.0	120.0					3																	4821291		1989	4154	6143	4796291	SO:0001583	missense	3708	exon46			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6304G>A	3.37:g.4821291G>A	ENSP00000401671:p.Ala2102Thr	Somatic		Capture	Illumina HiSeq	Phase_I	4796291	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222462	0.95139	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92965	-3.12;-3.13;-3.14;-3.14;-3.12;-3.12	5.28	4.39	0.52855	.	0.051084	0.85682	D	0.000000	D	0.95962	0.8685	M	0.90977	3.165	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.58520	0.74;0.84	D	0.95493	0.8571	10	0.33940	T	0.23	.	15.8769	0.79170	0.0:0.1358:0.8642:0.0	.	2117;2069	Q14643;G5E9P1	ITPR1_HUMAN;.	T	2117;2102;2102;2069;563;2069;2054;2102	ENSP00000306253:A2102T;ENSP00000346595:A2102T;ENSP00000405934:A2069T;ENSP00000349597:A2069T;ENSP00000397885:A2054T;ENSP00000401671:A2102T	ENSP00000306253:A2102T	A	+	1	0	ITPR1	4796291	1.000000	0.71417	0.217000	0.23759	0.985000	0.73830	9.772000	0.98984	1.191000	0.43056	0.585000	0.79938	GCA		0.502	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4842276	4842276	+	Missense_Mutation	SNP	G	G	A	rs201144431		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:4842276G>A	ENST00000443694.2	+	51	7054	c.7054G>A	c.(7054-7056)Gct>Act	p.A2352T	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.A2352T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A2304T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A2319T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A2352T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A2319T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2367					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A2304T(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCTTCTGGGCGCTTTCAATGT	0.478													G|||	0	0.0	0.0	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0				p.A2319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6955A	3						.	G	THR/ALA,THR/ALA,THR/ALA	0,3800		0,0,1900	104.0	100.0	101.0		6955,7054,6910	5.1	1.0	3		101	10,8232		0,10,4111	yes	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	58,58,58	0,10,6011	AA,AG,GG		0.1213,0.0,0.083	benign,benign,benign	2319/2711,2352/2744,2304/2696	4842276	10,12032	1900	4121	6021	4817276	SO:0001583	missense	3708	exon51			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7054G>A	3.37:g.4842276G>A	ENSP00000401671:p.Ala2352Thr	Somatic		Capture	Illumina HiSeq	Phase_I	4817276	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253886	0.59212	0.0	0.001213	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.1	5.1	0.69264	Ion transport (1);	0.053458	0.85682	D	0.000000	D	0.95667	0.8591	L	0.31476	0.935	0.80722	D	1	P;B	0.40180	0.705;0.053	B;B	0.38264	0.269;0.013	D	0.95034	0.8172	10	0.21540	T	0.41	.	18.8652	0.92289	0.0:0.0:1.0:0.0	.	2367;2319	Q14643;G5E9P1	ITPR1_HUMAN;.	T	2367;2352;2352;2319;813;2319;2304;2352	ENSP00000306253:A2352T;ENSP00000346595:A2352T;ENSP00000405934:A2319T;ENSP00000349597:A2319T;ENSP00000397885:A2304T;ENSP00000401671:A2352T	ENSP00000306253:A2352T	A	+	1	0	ITPR1	4817276	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	9.338000	0.96553	2.535000	0.85469	0.591000	0.81541	GCT		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ARL8B	55207	broad.mit.edu	37	3	5214376	5214376	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:5214376G>A	ENST00000256496.3	+	4	569	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ARL8B_ENST00000468010.1_Intron|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000419534.2_Missense_Mutation_p.R108Q	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	108					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R108Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GAAGCTTCCCGAAATGAGCTA	0.313																																					p.R108Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G323A	3						.						73.0	74.0	74.0					3																	5214376		2203	4297	6500	5189376	SO:0001583	missense	55207	exon4			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.323G>A	3.37:g.5214376G>A	ENSP00000256496:p.Arg108Gln	Somatic		Capture	Illumina HiSeq	Phase_I	5189376	NM_018184	B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408073	0.83340	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.63580	-0.05;-0.05	5.46	5.46	0.80206	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.63843	1.955	0.80722	D	1	B;B;B	0.27882	0.192;0.038;0.008	B;B;B	0.19946	0.027;0.009;0.004	T	0.63488	-0.6626	10	0.72032	D	0.01	1.5451	19.2982	0.94132	0.0:0.0:1.0:0.0	.	108;99;108	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	Q	108;160;108	ENSP00000256496:R108Q;ENSP00000402996:R108Q	ENSP00000256496:R108Q	R	+	2	0	ARL8B	5189376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.557000	0.86248	0.467000	0.42956	CGA		0.313	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184	
EDEM1	9695	broad.mit.edu	37	3	5255213	5255213	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:5255213T>G	ENST00000256497.4	+	11	2017					NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCAACGTGAGTTGCTTTTTCC	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						54.0	56.0	55.0					3																	5255213		2203	4300	6503	5230213	SO:0001627	intron_variant	9695	.			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1884+6T>G	3.37:g.5255213T>G		Somatic		Capture	Illumina HiSeq	Phase_I	5230213	.	A8K9C8|B4DXP3	Intron	SNP	ENST00000256497.4	37	CCDS33686.1																																																																																				0.443	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
LMCD1	29995	broad.mit.edu	37	3	8607327	8607327	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:8607327C>T	ENST00000157600.3	+	5	1165	c.933C>T	c.(931-933)tgC>tgT	p.C311C	LMCD1_ENST00000397386.3_Silent_p.C199C|LMCD1_ENST00000454244.1_Silent_p.C238C|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	311	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C311C(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTCCGGCTGCGATGAGGTGG	0.622																																					p.C311C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	3						.						17.0	17.0	17.0					3																	8607327		2199	4296	6495	8582327	SO:0001819	synonymous_variant	29995	exon5			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.933C>T	3.37:g.8607327C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8582327	NM_014583	B4DG80	Silent	SNP	ENST00000157600.3	37	CCDS33688.1																																																																																				0.622	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	
SRGAP3	9901	broad.mit.edu	37	3	9099962	9099962	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:9099962G>A	ENST00000383836.3	-	7	1423	c.996C>T	c.(994-996)ttC>ttT	p.F332F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.F332F	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	332	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.F332F(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGGAACTCGAACTTGAGTG	0.557			T	RAF1	pilocytic astrocytoma																																p.F332F			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	3						.						189.0	155.0	167.0					3																	9099962		2203	4300	6503	9074962	SO:0001819	synonymous_variant	9901	exon7			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.996C>T	3.37:g.9099962G>A		Somatic		Capture	Illumina HiSeq	Phase_I	9074962	NM_014850	Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	CCDS2572.1																																																																																				0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
THUMPD3	25917	broad.mit.edu	37	3	9422292	9422292	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:9422292A>T	ENST00000345094.3	+	7	1448	c.1114A>T	c.(1114-1116)Att>Ttt	p.I372F	THUMPD3_ENST00000452837.2_Missense_Mutation_p.I372F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.I372F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	372						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.I372F(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CAAGAGCCAAATTAAAGAAGG	0.328																																					p.I372F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1114T	3						.						77.0	77.0	77.0					3																	9422292		2203	4300	6503	9397292	SO:0001583	missense	25917	exon7			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1114A>T	3.37:g.9422292A>T	ENSP00000339532:p.Ile372Phe	Somatic		Capture	Illumina HiSeq	Phase_I	9397292	NM_015453	Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.832778|2.832778	0.50951|0.50951	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.55|5.55	0.167|0.167	0.15006|0.15006	Putative RNA methylase (1);|.	0.876059|.	0.10525|.	N|.	0.664541|.	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	P|.	0.48016|.	0.904|.	P|.	0.45681|.	0.49|.	T|T	0.28744|0.28744	-1.0034|-1.0034	10|5	0.09843|.	T|.	0.71|.	-31.7004|-31.7004	10.0456|10.0456	0.42184|0.42184	0.6716:0.0:0.3284:0.0|0.6716:0.0:0.3284:0.0	.|.	372|.	Q9BV44|.	THUM3_HUMAN|.	F|N	372|228	ENSP00000395893:I372F;ENSP00000339532:I372F;ENSP00000424064:I372F|.	ENSP00000339532:I372F|.	I|K	+|+	1|3	0|2	THUMPD3|THUMPD3	9397292|9397292	0.989000|0.989000	0.36119|0.36119	0.713000|0.713000	0.30519|0.30519	0.882000|0.882000	0.50991|0.50991	1.275000|1.275000	0.33144|0.33144	0.105000|0.105000	0.17753|0.17753	0.454000|0.454000	0.30748|0.30748	ATT|AAA		0.328	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	
THUMPD3	25917	broad.mit.edu	37	3	9426367	9426367	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:9426367G>A	ENST00000345094.3	+	10	1853	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.E507K|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.E507K|SETD5-AS1_ENST00000520629.1_RNA|SETD5-AS1_ENST00000523354.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	507						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E507K(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GCAATGCAAAGAATGAAGATG	0.403																																					p.E507K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1519A	3						.						193.0	166.0	175.0					3																	9426367		2203	4300	6503	9401367	SO:0001583	missense	25917	exon10			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1519G>A	3.37:g.9426367G>A	ENSP00000339532:p.Glu507Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9401367	NM_015453	Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866923	0.32977	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.44482	0.92;0.92;0.92	5.67	-0.36	0.12568	.	0.791577	0.10937	N	0.617678	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18935	-1.0321	10	0.87932	D	0	-29.4482	3.9232	0.09253	0.2083:0.0:0.2633:0.5284	.	507	Q9BV44	THUM3_HUMAN	K	507	ENSP00000395893:E507K;ENSP00000339532:E507K;ENSP00000424064:E507K	ENSP00000339532:E507K	E	+	1	0	THUMPD3	9401367	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.237000	0.08990	0.009000	0.14813	0.555000	0.69702	GAA		0.403	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	
BRPF1	7862	broad.mit.edu	37	3	9785550	9785550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:9785550C>T	ENST00000457855.1	+	7	2593	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V	BRPF1_ENST00000302054.3_Missense_Mutation_p.A861V|BRPF1_ENST00000424362.1_Missense_Mutation_p.A860V|BRPF1_ENST00000433861.2_Missense_Mutation_p.A861V|BRPF1_ENST00000383829.2_Missense_Mutation_p.A867V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	861	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A867V(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAGATAGTGCGGCAGAGGAG	0.612																																					p.A861V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2582T	3						.						52.0	37.0	42.0					3																	9785550		2202	4298	6500	9760550	SO:0001583	missense	7862	exon8			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2582C>T	3.37:g.9785550C>T	ENSP00000410210:p.Ala861Val	Somatic		Capture	Illumina HiSeq	Phase_I	9760550	NM_004634	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651589	0.67472	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.16897	2.33;2.32;3.71;2.31;2.31	6.17	6.17	0.99709	.	0.171884	0.53938	D	0.000053	T	0.16981	0.0408	L	0.55481	1.735	0.58432	D	0.999992	P;B;B;B	0.42161	0.772;0.164;0.164;0.102	B;B;B;B	0.26969	0.075;0.026;0.026;0.012	T	0.03852	-1.0998	10	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	861;860;867;861	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	861;860;867;861;861	ENSP00000402485:A861V;ENSP00000398863:A860V;ENSP00000373340:A867V;ENSP00000306297:A861V;ENSP00000410210:A861V	ENSP00000306297:A861V	A	+	2	0	BRPF1	9760550	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.672000	0.61597	2.941000	0.99782	0.655000	0.94253	GCG		0.612	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
IL17RC	84818	broad.mit.edu	37	3	9962199	9962199	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:9962199G>A	ENST00000295981.3	+	6	921	c.703G>A	c.(703-705)Gag>Aag	p.E235K	IL17RC_ENST00000413608.1_Missense_Mutation_p.E164K|IL17RC_ENST00000416074.2_Missense_Mutation_p.E35K|IL17RC_ENST00000383812.4_Missense_Mutation_p.E164K|IL17RC_ENST00000455057.1_Missense_Mutation_p.E164K|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.E164K|RNU6-882P_ENST00000391025.1_RNA	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	235					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.E235K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGACTGCTTCGAGGCTGCCCT	0.587																																					p.E164K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	3						.						66.0	56.0	59.0					3																	9962199		2201	4300	6501	9937199	SO:0001583	missense	84818	exon6			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.703G>A	3.37:g.9962199G>A	ENSP00000295981:p.Glu235Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9937199	NM_153460	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902713	0.72754	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.5	4.61	0.57282	.	0.225948	0.31188	N	0.008094	T	0.28797	0.0714	M	0.66939	2.045	0.27767	N	0.943607	D;D;D;D;P;P;D;D;P	0.76494	0.998;0.96;0.992;0.992;0.933;0.933;0.995;0.999;0.932	P;P;P;P;B;B;P;P;B	0.60949	0.823;0.496;0.578;0.578;0.12;0.12;0.759;0.881;0.281	T	0.03394	-1.1041	10	0.46703	T	0.11	-27.2424	10.7793	0.46369	0.0915:0.0:0.9085:0.0	.	164;35;164;164;164;164;164;235;164	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	K	164;139;235;139;164;35;164;164	ENSP00000373323:E164K;ENSP00000414609:E139K;ENSP00000295981:E235K;ENSP00000401128:E139K;ENSP00000384969:E164K;ENSP00000395315:E35K;ENSP00000407894:E164K;ENSP00000396064:E164K	ENSP00000295981:E235K	E	+	1	0	IL17RC	9937199	0.998000	0.40836	0.997000	0.53966	0.918000	0.54935	3.352000	0.52239	2.758000	0.94735	0.563000	0.77884	GAG		0.587	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732	
FANCD2	2177	broad.mit.edu	37	3	10103823	10103823	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:10103823C>A	ENST00000419585.1	+	20	1927				FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Intron|FANCD2_ENST00000383807.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		aaaaaaaATTCTTTGTTTTTA	0.363			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												.		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	0			.	3						.						27.0	30.0	29.0					3																	10103823		2203	4300	6503	10078823	SO:0001627	intron_variant	2177	.	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1767-12C>A	3.37:g.10103823C>A		Somatic		Capture	Illumina HiSeq	Phase_I	10078823	.	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Intron	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																				0.363	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
RAF1	5894	broad.mit.edu	37	3	12650428	12650428	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:12650428A>G	ENST00000251849.4	-	5	863				RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Intron|RAF1_ENST00000534997.1_Intron	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase						activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGAGCCTACAACAAGAACACA	0.368			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												.			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Unknown(1)	large_intestine(1)	.	3						.						53.0	49.0	50.0					3																	12650428		2203	4300	6503	12625428	SO:0001627	intron_variant	5894	.	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.424-6T>C	3.37:g.12650428A>G		Somatic		Capture	Illumina HiSeq	Phase_I	12625428	.	B0LPH8|B2R5N3|Q15278|Q9UC20	Intron	SNP	ENST00000251849.4	37	CCDS2612.1																																																																																				0.368	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
SLC6A6	6533	broad.mit.edu	37	3	14513828	14513828	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:14513828G>A	ENST00000454876.2	+	10	1538				SLC6A6_ENST00000360861.3_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATAGCCAGGTGCGTATAAGGG	0.532																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						91.0	84.0	86.0					3																	14513828		2203	4300	6503	14488832	SO:0001627	intron_variant	6533	.				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1209+3G>A	3.37:g.14513828G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14488832	.	B2RNU7|Q9BRI2|Q9BXB0	Intron	SNP	ENST00000454876.2	37	CCDS33705.1																																																																																				0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
GALNT15	117248	broad.mit.edu	37	3	16242335	16242335	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:16242335C>T	ENST00000339732.5	+	3	1414				GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)									TGACAGGTAACTTATTCCCTG	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						21.0	21.0	21.0					3																	16242335		2203	4300	6503	16217339	SO:0001627	intron_variant	117248	.			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.911+5C>T	3.37:g.16242335C>T		Somatic		Capture	Illumina HiSeq	Phase_I	16217339	.	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Intron	SNP	ENST00000339732.5	37	CCDS33711.1																																																																																				0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
EFHB	151651	broad.mit.edu	37	3	19924193	19924193	+	Missense_Mutation	SNP	C	C	T	rs144894138		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19924193C>T	ENST00000295824.9	-	12	2338	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	EFHB_ENST00000344838.4_Missense_Mutation_p.R596Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	726							calcium ion binding (GO:0005509)	p.R726Q(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AATGTCAGATCGAATGGTTGG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		15116	0.0		0.0	False		,,,				2504	0.001				p.R726Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2177A	3						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	84.0	91.0		2177	4.7	1.0	3	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	EFHB	NM_144715.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	726/834	19924193	2,13004	2203	4300	6503	19899197	SO:0001583	missense	151651	exon12			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2177G>A	3.37:g.19924193C>T	ENSP00000295824:p.Arg726Gln	Somatic		Capture	Illumina HiSeq	Phase_I	19899197	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443585	0.83993	2.27E-4	1.16E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.48522	0.81;0.81	5.54	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.86178	2.8	0.54753	D	0.999987	D;D	0.89917	0.996;1.0	P;D	0.87578	0.753;0.998	T	0.76113	-0.3078	9	.	.	.	-12.198	14.6789	0.69001	0.0:0.9301:0.0:0.0699	.	596;726	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Q	726;596	ENSP00000295824:R726Q;ENSP00000342263:R596Q	.	R	-	2	0	EFHB	19899197	1.000000	0.71417	0.972000	0.41901	0.711000	0.40976	6.924000	0.75823	1.485000	0.48380	0.650000	0.86243	CGA		0.428	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
EFHB	151651	broad.mit.edu	37	3	19947146	19947146	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19947146C>T	ENST00000295824.9	-	6	1545	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	EFHB_ENST00000344838.4_Missense_Mutation_p.A332T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	462							calcium ion binding (GO:0005509)	p.A462T(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGAGATTTTGCCATGGCTCGT	0.383																																					p.A462T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1384A	3						.						103.0	108.0	106.0					3																	19947146		2203	4300	6503	19922150	SO:0001583	missense	151651	exon6			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1384G>A	3.37:g.19947146C>T	ENSP00000295824:p.Ala462Thr	Somatic		Capture	Illumina HiSeq	Phase_I	19922150	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463836	0.43736	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.32515	1.73;1.78;2.06;1.45	4.83	4.83	0.62350	.	0.095761	0.45867	D	0.000321	T	0.43077	0.1231	M	0.67953	2.075	0.29171	N	0.87716	D;P	0.56287	0.975;0.932	P;B	0.53035	0.716;0.37	T	0.42548	-0.9445	9	.	.	.	-20.5997	11.6844	0.51476	0.0:0.8211:0.1789:0.0	.	332;462	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	T	462;332;462;199	ENSP00000295824:A462T;ENSP00000342263:A332T;ENSP00000373908:A462T;ENSP00000396778:A199T	.	A	-	1	0	EFHB	19922150	0.951000	0.32395	1.000000	0.80357	0.333000	0.28666	1.239000	0.32719	2.402000	0.81655	0.491000	0.48974	GCA		0.383	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
EFHB	151651	broad.mit.edu	37	3	19975376	19975376	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19975376C>T	ENST00000295824.9	-	1	296	c.135G>A	c.(133-135)gaG>gaA	p.E45E	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	45							calcium ion binding (GO:0005509)	p.E45E(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCACAGGGCTCTCCCCGCATC	0.448																																					p.E45E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G135A	3						.						74.0	71.0	72.0					3																	19975376		1889	4109	5998	19950380	SO:0001819	synonymous_variant	151651	exon1			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.135G>A	3.37:g.19975376C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19950380	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	CCDS33715.2																																																																																				0.448	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
EFHB	151651	broad.mit.edu	37	3	19975515	19975515	+	5'UTR	SNP	G	G	A	rs368763403		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:19975515G>A	ENST00000295824.9	-	0	157				EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B								calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GTTCATGGACGATTTCTCCCC	0.498																																					.												.	.	0			.	3						.	G		1,3827		0,1,1913	27.0	27.0	27.0			1.7	0.0	3		27	0,8274		0,0,4137	no	utr-5	EFHB	NM_144715.3		0,1,6050	AA,AG,GG		0.0,0.0261,0.0083			19975515	1,12101	1914	4137	6051	19950519	SO:0001623	5_prime_UTR_variant	151651	.			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.-5C>T	3.37:g.19975515G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19950519	.	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	5'UTR	SNP	ENST00000295824.9	37	CCDS33715.2																																																																																				0.498	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
KAT2B	8850	broad.mit.edu	37	3	20141452	20141452	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:20141452A>C	ENST00000263754.4	+	4	1124				KAT2B_ENST00000426228.1_Intron	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AACaggtaaaaagattttaaa	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						28.0	28.0	28.0					3																	20141452		2202	4300	6502	20116456	SO:0001627	intron_variant	8850	.			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.669+6A>C	3.37:g.20141452A>C		Somatic		Capture	Illumina HiSeq	Phase_I	20116456	.	Q6NSK1	Intron	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.383	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
ZNF385D	79750	broad.mit.edu	37	3	21462821	21462821	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:21462821C>T	ENST00000281523.2	-	8	1591	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R358Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGAGCAGTTCGAAGACTGAA	0.587																																					p.R358Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1073A	3						.						57.0	56.0	56.0					3																	21462821		2203	4300	6503	21437825	SO:0001583	missense	79750	exon8			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1073G>A	3.37:g.21462821C>T	ENSP00000281523:p.Arg358Gln	Somatic		Capture	Illumina HiSeq	Phase_I	21437825	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326459	0.81690	.	.	ENSG00000151789	ENST00000281523	T	0.34859	1.34	6.08	5.21	0.72293	.	0.278704	0.34750	N	0.003714	T	0.35828	0.0945	L	0.54323	1.7	0.29285	N	0.869754	B	0.14438	0.01	B	0.06405	0.002	T	0.22661	-1.0210	10	0.35671	T	0.21	-25.8283	15.3853	0.74695	0.0:0.9334:0.0:0.0666	.	358	Q9H6B1	Z385D_HUMAN	Q	358	ENSP00000281523:R358Q	ENSP00000281523:R358Q	R	-	2	0	ZNF385D	21437825	0.996000	0.38824	0.147000	0.22382	0.992000	0.81027	3.523000	0.53488	1.585000	0.49928	0.650000	0.86243	CGA		0.587	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
UBE2E1	7324	broad.mit.edu	37	3	23932084	23932084	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:23932084G>T	ENST00000306627.3	+	6	788	c.569G>T	c.(568-570)aGa>aTa	p.R190I	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.R173I|UBE2E1_ENST00000424381.1_Missense_Mutation_p.R157I	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.R190I(1)		breast(1)|endometrium(2)|large_intestine(4)	7						TGGACCAAGAGATACGCTACA	0.458																																					p.R173I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518T	3						.						105.0	94.0	98.0					3																	23932084		2203	4300	6503	23907088	SO:0001583	missense	7324	exon5			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.569G>T	3.37:g.23932084G>T	ENSP00000303709:p.Arg190Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23907088	NM_182666	B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	37	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030037	0.93575	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.86	5.86	0.93980	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.71296	2.17	0.80722	D	1	D	0.57571	0.98	P	0.55055	0.767	T	0.82592	-0.0381	10	0.87932	D	0	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	190	P51965	UB2E1_HUMAN	I	190;173;157;148	ENSP00000303709:R190I;ENSP00000329113:R173I;ENSP00000411351:R157I;ENSP00000393088:R148I	ENSP00000303709:R190I	R	+	2	0	UBE2E1	23907088	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	AGA		0.458	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341	
THRB	7068	broad.mit.edu	37	3	24164413	24164413	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:24164413G>T	ENST00000356447.4	-	10	1632	c.1348C>A	c.(1348-1350)Ctc>Atc	p.L450I	THRB_ENST00000280696.5_Missense_Mutation_p.L465I|THRB_ENST00000416420.1_Missense_Mutation_p.L450I|THRB_ENST00000396671.2_Missense_Mutation_p.L450I	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	450	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L450I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGGGGGAAGAGTTCTGTGGGG	0.493																																					p.L450I	Melanoma(21;896 1043 15021 37958)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1348A	3						.						110.0	116.0	114.0					3																	24164413		2203	4300	6503	24139417	SO:0001583	missense	7068	exon10				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1348C>A	3.37:g.24164413G>T	ENSP00000348827:p.Leu450Ile	Somatic		Capture	Illumina HiSeq	Phase_I	24139417	NM_000461	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438621	0.62955	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.91	5.91	0.95273	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.64402	D	0.000009	D	0.93903	0.8049	N	0.08118	0	0.80722	D	1	P	0.48230	0.907	D	0.63793	0.918	D	0.95153	0.8274	10	0.66056	D	0.02	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	450	P10828	THB_HUMAN	I	450;450;450;465	ENSP00000379904:L450I;ENSP00000348827:L450I;ENSP00000414444:L450I;ENSP00000280696:L465I	ENSP00000280696:L465I	L	-	1	0	THRB	24139417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.880000	0.87243	2.802000	0.96397	0.655000	0.94253	CTC		0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	
RARB	5915	broad.mit.edu	37	3	25542696	25542696	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:25542696G>T	ENST00000404969.1	+	3	351	c.351G>T	c.(349-351)caG>caT	p.Q117H	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.Q110H|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	117					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q117H(1)|p.Q110H(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGTATTCAGAAGAATATGA	0.383																																					p.Q110H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G330T	3						.						103.0	106.0	105.0					3																	25542696		2203	4300	6503	25517700	SO:0001583	missense	5915	exon3			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.351G>T	3.37:g.25542696G>T	ENSP00000385865:p.Gln117His	Somatic		Capture	Illumina HiSeq	Phase_I	25517700	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	19.67	3.870603	0.72065	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.97505	-4.41;-4.41;-4.41	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.986	D	0.99568	1.0970	10	0.87932	D	0	.	18.2626	0.90041	0.0:0.0:1.0:0.0	.	117;110	P10826;F1D8S6	RARB_HUMAN;.	H	117;117;117;110	ENSP00000373282:Q117H;ENSP00000385865:Q117H;ENSP00000332296:Q110H	ENSP00000332296:Q110H	Q	+	3	2	RARB	25517700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.748000	0.74877	2.286000	0.76751	0.650000	0.86243	CAG		0.383	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
TOP2B	7155	broad.mit.edu	37	3	25662290	25662290	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:25662290G>C	ENST00000264331.4	-	22	2744	c.2745C>G	c.(2743-2745)aaC>aaG	p.N915K	TOP2B_ENST00000542520.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.N910K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	915					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.N910K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGCCTTTAAAGTTTTTGTAGT	0.378																																					p.N910K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2730G	3						.						117.0	105.0	108.0					3																	25662290		1851	4095	5946	25637294	SO:0001583	missense	7155	exon22			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2745C>G	3.37:g.25662290G>C	ENSP00000264331:p.Asn915Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25637294	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	G	15.12	2.738657	0.49045	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.43294	0.95;0.95	5.67	1.34	0.21922	.	0.083553	0.85682	D	0.000000	T	0.50735	0.1633	L	0.58583	1.82	0.80722	D	1	D	0.56035	0.974	P	0.58928	0.848	T	0.48692	-0.9013	10	0.59425	D	0.04	-9.0249	9.1235	0.36801	0.4319:0.0:0.5681:0.0	.	910	Q02880-2	.	K	910;915;910	ENSP00000396704:N910K;ENSP00000264331:N915K	ENSP00000264331:N915K	N	-	3	2	TOP2B	25637294	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.332000	0.33805	0.339000	0.23719	0.591000	0.81541	AAC		0.378	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
OXSM	54995	broad.mit.edu	37	3	25835994	25835994	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:25835994A>C	ENST00000280701.3	+	0	1488				OXSM_ENST00000420173.2_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial						acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAACATATAATTTGTAATTA	0.318																																					.												.	.	0			.	3						.						28.0	31.0	30.0					3																	25835994		2194	4270	6464	25810998	SO:0001624	3_prime_UTR_variant	54995	.			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.*9A>C	3.37:g.25835994A>C		Somatic		Capture	Illumina HiSeq	Phase_I	25810998	.		3'UTR	SNP	ENST00000280701.3	37	CCDS2643.1																																																																																				0.318	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
NEK10	152110	broad.mit.edu	37	3	27152782	27152782	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27152782T>A	ENST00000429845.2	-	39	3862	c.3500A>T	c.(3499-3501)aAt>aTt	p.N1167I	NEK10_ENST00000383771.4_Missense_Mutation_p.N469I|NEK10_ENST00000295720.6_Missense_Mutation_p.N479I|NEK10_ENST00000383770.3_Missense_Mutation_p.N422I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1167					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N1120I(1)|p.N1167S(1)|p.N1120S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTTGGGTGATTCTTGGTCCC	0.368																																					.												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	.	3						.						112.0	106.0	108.0					3																	27152782		2203	4300	6503	27127786	SO:0001583	missense	152110	.			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.3500A>T	3.37:g.27152782T>A	ENSP00000395849:p.Asn1167Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27127786	.	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	T	18.04	3.534624	0.64972	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770	T;T;T	0.13089	2.62;2.66;2.87	5.73	0.47	0.16747	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.80722	D	1	P;P	0.36837	0.571;0.527	B;B	0.36289	0.17;0.221	T	0.11470	-1.0586	8	0.87932	D	0	.	5.2725	0.15632	0.0:0.1572:0.2835:0.5593	.	479;422	Q6ZWH5-5;Q6ZWH5-7	.;.	I	479;469;422	ENSP00000295720:N479I;ENSP00000373281:N469I;ENSP00000373280:N422I	ENSP00000295720:N479I	N	-	2	0	NEK10	27127786	0.984000	0.35163	0.992000	0.48379	0.955000	0.61496	0.150000	0.16263	-0.070000	0.12908	0.455000	0.32223	AAT		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
SLC4A7	9497	broad.mit.edu	37	3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATGAGTTTGCGCACAAACACT	0.328																																					p.R1119C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3355T	3						.						115.0	124.0	121.0					3																	27427493		2203	4300	6503	27402497	SO:0001583	missense	9497	exon23			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3355C>T	3.37:g.27427493G>A	ENSP00000295736:p.Arg1119Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27402497	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852845	0.91355	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.099081	0.64402	D	0.000001	D	0.91720	0.7382	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.983;0.996;0.993;0.996;0.999;0.992;0.996;0.983	D	0.91838	0.5481	10	0.87932	D	0	.	20.1467	0.98079	0.0:0.0:1.0:0.0	.	1115;1000;1111;1115;1128;669;995;1119;1000	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	670;1119;995;1128;1115;1000;1111;1000;1115;1004;669;1015	ENSP00000411031:R670C;ENSP00000295736:R1119C;ENSP00000416368:R995C;ENSP00000390394:R1128C;ENSP00000414797:R1115C;ENSP00000394252:R1000C;ENSP00000406605:R1111C;ENSP00000407382:R1000C;ENSP00000406804:R1115C;ENSP00000395336:R1004C;ENSP00000373429:R669C;ENSP00000388703:R1015C	ENSP00000295736:R1119C	R	-	1	0	SLC4A7	27402497	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	7.915000	0.87484	2.838000	0.97847	0.655000	0.94253	CGC		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
SLC4A7	9497	broad.mit.edu	37	3	27451005	27451005	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27451005T>G	ENST00000295736.5	-	13	1826	c.1756A>C	c.(1756-1758)Ata>Cta	p.I586L	SLC4A7_ENST00000437179.1_Missense_Mutation_p.I467L|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I462L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I467L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I582L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I582L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I471L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I595L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I136L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I578L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	586					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.I586L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATGTCAAGTATCAAACCACCA	0.408																																					p.I586L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1756C	3						.						82.0	82.0	82.0					3																	27451005		2203	4300	6503	27426009	SO:0001583	missense	9497	exon13			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1756A>C	3.37:g.27451005T>G	ENSP00000295736:p.Ile586Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27426009	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593757	0.46214	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.52	5.52	0.82312	Bicarbonate transporter, C-terminal (1);	0.093646	0.85682	D	0.000000	T	0.81744	0.4887	M	0.68317	2.08	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.24317	0.049;0.028;0.049;0.054;0.049;0.101;0.023;0.049;0.028	B;B;B;B;B;B;B;B;B	0.32762	0.082;0.082;0.082;0.084;0.082;0.152;0.049;0.082;0.12	T	0.80381	-0.1406	10	0.62326	D	0.03	.	15.7039	0.77563	0.0:0.0:0.0:1.0	.	582;467;578;582;595;136;462;586;467	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	L	137;586;462;595;582;467;578;467;582;471;136;482	ENSP00000411031:I137L;ENSP00000295736:I586L;ENSP00000416368:I462L;ENSP00000390394:I595L;ENSP00000414797:I582L;ENSP00000394252:I467L;ENSP00000406605:I578L;ENSP00000407382:I467L;ENSP00000406804:I582L;ENSP00000395336:I471L;ENSP00000373429:I136L;ENSP00000388703:I482L	ENSP00000295736:I586L	I	-	1	0	SLC4A7	27426009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.158000	0.42329	2.106000	0.64143	0.473000	0.43528	ATA		0.408	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
SLC4A7	9497	broad.mit.edu	37	3	27478988	27478988	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27478988G>T	ENST00000295736.5	-	4	362	c.292C>A	c.(292-294)Ctt>Att	p.L98I	SLC4A7_ENST00000437179.1_Missense_Mutation_p.L103I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.L103I|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L98I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L103I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L107I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L107I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L107I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L107I|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L103I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	98					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.L98I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TCAGTACCAAGGATAAACTGA	0.338																																					p.L98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C292A	3						.						122.0	121.0	122.0					3																	27478988		2203	4300	6503	27453992	SO:0001583	missense	9497	exon4			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.292C>A	3.37:g.27478988G>T	ENSP00000295736:p.Leu98Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27453992	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370908	0.82573	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	D;D;D;D;D;D;D;D;D;T;D	0.88046	-2.17;-1.81;-2.2;-2.33;-1.8;-2.28;-1.81;-2.32;-1.83;-0.93;-1.84	5.56	5.56	0.83823	.	0.126375	0.53938	D	0.000043	D	0.93426	0.7903	M	0.84326	2.69	0.80722	D	1	D;P;D;D;D;P;P;D;P	0.69078	0.989;0.553;0.989;0.997;0.997;0.841;0.681;0.997;0.841	D;P;D;D;D;P;P;D;P	0.77557	0.977;0.45;0.977;0.99;0.978;0.45;0.652;0.978;0.45	D	0.93549	0.6885	10	0.54805	T	0.06	.	14.7124	0.69244	0.0716:0.0:0.9284:0.0	.	107;103;103;107;107;103;98;98;103	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	I	98;98;107;107;103;103;103;107;107;103;98	ENSP00000295736:L98I;ENSP00000416368:L98I;ENSP00000390394:L107I;ENSP00000414797:L107I;ENSP00000394252:L103I;ENSP00000406605:L103I;ENSP00000407382:L103I;ENSP00000406804:L107I;ENSP00000395336:L107I;ENSP00000401949:L103I;ENSP00000388703:L98I	ENSP00000295736:L98I	L	-	1	0	SLC4A7	27453992	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.795000	0.47861	2.608000	0.88229	0.305000	0.20034	CTT		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
EOMES	8320	broad.mit.edu	37	3	27758824	27758824	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27758824A>C	ENST00000295743.4	-	6	2001	c.1798T>G	c.(1798-1800)Ttc>Gtc	p.F600V	EOMES_ENST00000449599.1_Missense_Mutation_p.F619V|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.F324V			O95936	EOMES_HUMAN	eomesodermin	600	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F600V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCTTCAGAGAACACAGTGGGG	0.502																																					p.F600V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1798G	3						.						85.0	89.0	87.0					3																	27758824		2203	4300	6503	27733828	SO:0001583	missense	8320	exon6			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1798T>G	3.37:g.27758824A>C	ENSP00000295743:p.Phe600Val	Somatic		Capture	Illumina HiSeq	Phase_I	27733828	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	A	7.643	0.681209	0.14907	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.84944	-1.9;-1.92;-1.61	5.05	3.86	0.44501	.	0.427868	0.28230	N	0.016110	D	0.85826	0.5787	L	0.43152	1.355	0.58432	D	0.999998	B;D;P	0.58620	0.128;0.983;0.539	B;P;B	0.59424	0.101;0.857;0.135	T	0.81457	-0.0924	10	0.16896	T	0.51	.	12.3934	0.55370	0.859:0.141:0.0:0.0	.	333;619;600	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	V	600;619;324;484	ENSP00000295743:F600V;ENSP00000388620:F619V;ENSP00000442097:F324V	ENSP00000295743:F600V	F	-	1	0	EOMES	27733828	1.000000	0.71417	0.811000	0.32455	0.997000	0.91878	8.880000	0.92407	0.978000	0.38470	0.460000	0.39030	TTC		0.502	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
EOMES	8320	broad.mit.edu	37	3	27760256	27760256	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:27760256G>T	ENST00000295743.4	-	4	1490	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	EOMES_ENST00000449599.1_Missense_Mutation_p.F429L|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.F134L			O95936	EOMES_HUMAN	eomesodermin	429					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F429L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACTGCAATGAATTGCGTTT	0.453																																					p.F429L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1287A	3						.						153.0	148.0	150.0					3																	27760256		2203	4300	6503	27735260	SO:0001583	missense	8320	exon4			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1287C>A	3.37:g.27760256G>T	ENSP00000295743:p.Phe429Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27735260	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833820	0.91036	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.93189	-3.18;-3.18;-3.18	5.67	5.67	0.87782	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	H	0.96142	3.775	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98710	1.0704	10	0.72032	D	0.01	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	143;429;429	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	L	429;429;134;294	ENSP00000295743:F429L;ENSP00000388620:F429L;ENSP00000442097:F134L	ENSP00000295743:F429L	F	-	3	2	EOMES	27735260	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.303000	0.65738	2.677000	0.91161	0.655000	0.94253	TTC		0.453	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
CMC1	152100	broad.mit.edu	37	3	28357880	28357880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:28357880G>T	ENST00000466830.1	+	3	365	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CMC1_ENST00000423894.1_Nonsense_Mutation_p.E26*|CMC1_ENST00000469102.1_3'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	56						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.E56*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)	5						ATGCCGGAAAGAAAATTCTGC	0.313																																					p.E56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G166T	3						.						88.0	89.0	89.0					3																	28357880		2203	4300	6503	28332884	SO:0001587	stop_gained	152100	exon3			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.166G>T	3.37:g.28357880G>T	ENSP00000418348:p.Glu56*	Somatic		Capture	Illumina HiSeq	Phase_I	28332884	NM_182523	Q68DJ7	Nonsense_Mutation	SNP	ENST00000466830.1	37	CCDS33722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.027894|6.027894	0.97216|0.97216	.|.	.|.	ENSG00000187118|ENSG00000187118	ENST00000466830;ENST00000423894|ENST00000418849	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.048128|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76271	.|0.3964	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74318	.|-0.3704	.|4	0.72032|.	D|.	0.01|.	-25.0221|-25.0221	19.6138|19.6138	0.95622|0.95622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	56;26|62	.|.	ENSP00000404581:E26X|.	E|R	+|+	1|2	0|0	CMC1|CMC1	28332884|28332884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.840000|4.840000	0.62817|0.62817	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.313	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523	
ZCWPW2	152098	broad.mit.edu	37	3	28533622	28533622	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:28533622A>C	ENST00000383768.2	+	6	803	c.615A>C	c.(613-615)aaA>aaC	p.K205N	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K205N			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	205							zinc ion binding (GO:0008270)	p.K205N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTACAGATAAATCCGAAACAC	0.294																																					p.K205N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A615C	3						.						54.0	52.0	53.0					3																	28533622		2203	4300	6503	28508626	SO:0001583	missense	152098	exon5			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.615A>C	3.37:g.28533622A>C	ENSP00000373278:p.Lys205Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28508626	NM_001040432		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.66|10.66	1.412927|1.412927	0.25465|0.25465	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000419130|ENST00000383768;ENST00000421010	.|T;T	.|0.32753	.|1.44;1.44	4.96|4.96	2.37|2.37	0.29283|0.29283	.|.	.|0.501458	.|0.18306	.|N	.|0.145251	T|T	0.20292|0.20292	0.0488|0.0488	L|L	0.32530|0.32530	0.975|0.975	0.20764|0.20764	N|N	0.999854|0.999854	.|P	.|0.44877	.|0.845	.|B	.|0.41860	.|0.368	T|T	0.07927|0.07927	-1.0747|-1.0747	5|10	.|0.44086	.|T	.|0.13	-16.9291|-16.9291	3.9269|3.9269	0.09267|0.09267	0.7157:0.0:0.1005:0.1838|0.7157:0.0:0.1005:0.1838	.|.	.|205	.|Q504Y3	.|ZCPW2_HUMAN	L|N	90|205	.|ENSP00000373278:K205N;ENSP00000412386:K205N	.|ENSP00000373278:K205N	I|K	+|+	1|3	0|2	ZCWPW2|ZCWPW2	28508626|28508626	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.377000|0.377000	0.30045|0.30045	2.556000|2.556000	0.45862|0.45862	0.835000|0.835000	0.34877|0.34877	0.528000|0.528000	0.53228|0.53228	ATC|AAA		0.294	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
RBMS3	27303	broad.mit.edu	37	3	29781260	29781260	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:29781260C>A	ENST00000383767.2	+	5	785	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	RBMS3_ENST00000445033.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000396583.3_Missense_Mutation_p.S150Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S150Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000456853.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S149Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.S149Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.S150Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTCCCCATTTCTATGGATGAG	0.413																																					p.S150Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C449A	3						.						173.0	166.0	168.0					3																	29781260		2203	4300	6503	29756264	SO:0001583	missense	27303	exon5			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.449C>A	3.37:g.29781260C>A	ENSP00000373277:p.Ser150Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29756264	NM_014483	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161235	0.78226	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.75704	-0.96;2.27;-0.96;-0.96;-0.96;2.27;-0.96;2.27	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.62088	1.915	0.80722	D	1	B;B;B;B	0.34181	0.386;0.045;0.386;0.44	B;B;P;P	0.46237	0.374;0.268;0.474;0.508	T	0.76735	-0.2850	9	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	150;150;149;150	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	149;150;150;150;150;149;150;150	ENSP00000395592:S149Y;ENSP00000379828:S150Y;ENSP00000373277:S150Y;ENSP00000391934:S150Y;ENSP00000273139:S150Y;ENSP00000373276:S149Y;ENSP00000397926:S150Y;ENSP00000400519:S150Y	.	S	+	2	0	RBMS3	29756264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.590000	0.87494	0.563000	0.77884	TCT		0.413	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
RBMS3	27303	broad.mit.edu	37	3	30029626	30029626	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:30029626C>A	ENST00000383767.2	+	13	1434				RBMS3_ENST00000396583.3_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000452462.1_Intron|RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000473799.1_Intron|RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000434693.2_Intron			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3						positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.?(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTCTTTGATTCTCTCTAGTAT	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						89.0	78.0	82.0					3																	30029626		2203	4300	6503	30004630	SO:0001627	intron_variant	27303	.			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1099-8C>A	3.37:g.30029626C>A		Somatic		Capture	Illumina HiSeq	Phase_I	30004630	.	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Intron	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.453	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
RBMS3	27303	broad.mit.edu	37	3	30032561	30032561	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:30032561T>C	ENST00000383767.2	+	14	1515				RBMS3_ENST00000396583.3_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000452462.1_Intron|RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000473799.1_Intron|RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000434693.2_Intron			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3						positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATGTTCTTATTTGCCTCCTTA	0.488																																					.												.	.	0			.	3						.						172.0	150.0	158.0					3																	30032561		2203	4300	6503	30007565	SO:0001627	intron_variant	27303	.			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1180-12T>C	3.37:g.30032561T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30007565	.	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Intron	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.488	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
TGFBR2	7048	broad.mit.edu	37	3	30686246	30686246	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:30686246C>T	ENST00000295754.5	+	2	484	c.102C>T	c.(100-102)aaC>aaT	p.N34N	TGFBR2_ENST00000359013.4_Silent_p.N59N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	34					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.N34N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAGTTAATAACGACATGATAG	0.388																																					p.N59N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	3						.						82.0	78.0	79.0					3																	30686246		2203	4300	6503	30661250	SO:0001819	synonymous_variant	7048	exon3				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.102C>T	3.37:g.30686246C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30661250	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	CCDS2648.1																																																																																				0.388	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
TGFBR2	7048	broad.mit.edu	37	3	30729968	30729968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:30729968C>T	ENST00000295754.5	+	6	1871	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.R522*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R497*(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGATCGAGGGCGACCAGAAAT	0.488																																					p.R522X												TGFBR2,large_intestine,NS,Substitution - Nonsense,0 	.	3	Substitution - Nonsense(3)	large_intestine(2)|stomach(1)	c.C1564T	3	GRCh37	CM063204	TGFBR2	M		.						107.0	101.0	103.0					3																	30729968		2203	4300	6503	30704972	SO:0001587	stop_gained	7048	exon7				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1489C>T	3.37:g.30729968C>T	ENSP00000295754:p.Arg497*	Somatic		Capture	Illumina HiSeq	Phase_I	30704972	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	41	9.125984	0.99073	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3507	0.66699	0.1482:0.8518:0.0:0.0	.	.	.	.	X	497;522;327	.	ENSP00000295754:R497X	R	+	1	2	TGFBR2	30704972	0.993000	0.37304	0.962000	0.40283	0.972000	0.66771	3.116000	0.50399	2.682000	0.91365	0.591000	0.81541	CGA		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
STT3B	201595	broad.mit.edu	37	3	31666425	31666425	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:31666425G>T	ENST00000295770.2	+	12	1956	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	583					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.D583Y(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCTTAGATGATTTTAGAGA	0.358																																					p.D583Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1747T	3						.						127.0	128.0	128.0					3																	31666425		2203	4300	6503	31641429	SO:0001583	missense	201595	exon12			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1747G>T	3.37:g.31666425G>T	ENSP00000295770:p.Asp583Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31641429	NM_178862	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394070	0.83011	.	.	ENSG00000163527	ENST00000295770	D	0.90844	-2.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98283	1.0509	10	0.87932	D	0	-9.6778	18.8245	0.92111	0.0:0.0:1.0:0.0	.	583	Q8TCJ2	STT3B_HUMAN	Y	583	ENSP00000295770:D583Y	ENSP00000295770:D583Y	D	+	1	0	STT3B	31641429	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.524000	0.85096	0.313000	0.20887	GAT		0.358	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
OSBPL10	114884	broad.mit.edu	37	3	31725315	31725315	+	Missense_Mutation	SNP	C	C	T	rs140782910	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:31725315C>T	ENST00000396556.2	-	8	1659	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E449K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	513					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.E513K(2)|p.E513*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATTGGGTGTTCGTGACAGCTG	0.542													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19060	0.0		0.0	False		,,,				2504	0.0				p.E513K												.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)	c.G1537A	3						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	146.0	128.0	134.0		1345,1537	2.8	0.0	3	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OSBPL10	NM_001174060.1,NM_017784.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	449/701,513/765	31725315	1,13005	2203	4300	6503	31700319	SO:0001583	missense	114884	exon8			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1537G>A	3.37:g.31725315C>T	ENSP00000379804:p.Glu513Lys	Somatic		Capture	Illumina HiSeq	Phase_I	31700319	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	5.643	0.303273	0.10678	0.0	1.16E-4	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.22336	1.96;2.29	5.68	2.78	0.32641	.	0.712283	0.14547	N	0.312872	T	0.15955	0.0384	L	0.50333	1.59	0.09310	N	1	B;B;B	0.16802	0.019;0.015;0.003	B;B;B	0.15870	0.012;0.014;0.013	T	0.28490	-1.0042	10	0.17832	T	0.49	-2.7097	4.9603	0.14063	0.0:0.5486:0.1556:0.2958	.	449;513;281	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	K	513;449	ENSP00000379804:E513K;ENSP00000406124:E449K	ENSP00000379804:E513K	E	-	1	0	OSBPL10	31700319	0.453000	0.25721	0.003000	0.11579	0.002000	0.02628	1.464000	0.35288	0.870000	0.35726	0.591000	0.81541	GAA		0.542	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		
DYNC1LI1	51143	broad.mit.edu	37	3	32576106	32576106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:32576106C>A	ENST00000273130.4	-	7	968	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.E173*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	289					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E289*(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTTTGTTTTCTTTTACTGAA	0.303																																					p.E289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G865T	3						.						64.0	70.0	68.0					3																	32576106		2200	4290	6490	32551110	SO:0001587	stop_gained	51143	exon7			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.865G>T	3.37:g.32576106C>A	ENSP00000273130:p.Glu289*	Somatic		Capture	Illumina HiSeq	Phase_I	32551110	NM_016141	A2RRG7|Q53HC8|Q53HK7	Nonsense_Mutation	SNP	ENST00000273130.4	37	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	38	7.198143	0.98129	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.3185	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	X	289;173	.	ENSP00000273130:E289X	E	-	1	0	DYNC1LI1	32551110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.377000	0.79668	2.894000	0.99253	0.591000	0.81541	GAA		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141	
CNOT10	25904	broad.mit.edu	37	3	32761630	32761630	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:32761630A>C	ENST00000328834.5	+	8	1085	c.769A>C	c.(769-771)Agc>Cgc	p.S257R	CNOT10_ENST00000538368.1_Missense_Mutation_p.S29R|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.S257R|CNOT10_ENST00000454516.2_Missense_Mutation_p.S317R	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	257					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S257R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CTTTCTTAAAAGCAATTTTGA	0.328																																					p.S257R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A769C	3						.						54.0	59.0	57.0					3																	32761630		2202	4299	6501	32736634	SO:0001583	missense	25904	exon8			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.769A>C	3.37:g.32761630A>C	ENSP00000330060:p.Ser257Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32736634	NM_015442	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005161	0.74932	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.76709	1.53;1.53;-1.04;-1.04	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);	0.068141	0.85682	D	0.000000	T	0.77837	0.4190	L	0.54323	1.7	0.80722	D	1	P;P;P;B	0.40834	0.73;0.573;0.573;0.437	B;B;B;B	0.42422	0.387;0.369;0.277;0.143	T	0.80286	-0.1446	10	0.72032	D	0.01	-7.293	16.3472	0.83146	1.0:0.0:0.0:0.0	.	317;257;256;257	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	R	257;257;157;29;317	ENSP00000329376:S257R;ENSP00000330060:S257R;ENSP00000442552:S29R;ENSP00000399862:S317R	ENSP00000330060:S257R	S	+	1	0	CNOT10	32736634	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.247000	0.95444	2.266000	0.75297	0.454000	0.30748	AGC		0.328	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
UBP1	7342	broad.mit.edu	37	3	33450180	33450180	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:33450180A>G	ENST00000283629.3	-	8	1457		c.e8+1		UBP1_ENST00000283628.5_Splice_Site|UBP1_ENST00000447368.2_Intron|UBP1_ENST00000486388.1_Splice_Site	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)						angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.?(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GAAGTCCCTTACACTGCCTCG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						94.0	90.0	91.0					3																	33450180		2203	4300	6503	33425184	SO:0001630	splice_region_variant	7342	.			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.927+1T>C	3.37:g.33450180A>G		Somatic		Capture	Illumina HiSeq	Phase_I	33425184	.	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Splice_Site	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538635	0.65085	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5863	0.68328	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBP1	33425184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.372000	0.90127	2.190000	0.69967	0.397000	0.26171	.		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	Intron
ARPP21	10777	broad.mit.edu	37	3	35748582	35748582	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:35748582C>A	ENST00000187397.4	+	10	1251				ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGGTTGGTTCTCAAGTTTGA	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						67.0	70.0	69.0					3																	35748582		2203	4300	6503	35723586	SO:0001627	intron_variant	10777	.			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.795+8C>A	3.37:g.35748582C>A		Somatic		Capture	Illumina HiSeq	Phase_I	35723586	.	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Intron	SNP	ENST00000187397.4	37	CCDS2661.1																																																																																				0.433	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
ARPP21	10777	broad.mit.edu	37	3	35833908	35833908	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:35833908C>T	ENST00000187397.4	+	19	2523	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	ARPP21_ENST00000458225.1_Silent_p.F690F|ARPP21_ENST00000337271.5_Silent_p.F670F|ARPP21_ENST00000444190.1_Silent_p.F670F|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Silent_p.F690F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	689	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.F689F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACAGGGATTCCAAGGCCTAA	0.468																																					p.F689F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2067T	3						.						165.0	164.0	165.0					3																	35833908		2203	4300	6503	35808912	SO:0001819	synonymous_variant	10777	exon19			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2067C>T	3.37:g.35833908C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35808912	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	CCDS2661.1																																																																																				0.468	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
ARPP21	10777	broad.mit.edu	37	3	35834008	35834008	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:35834008A>C	ENST00000187397.4	+	19	2623	c.2167A>C	c.(2167-2169)Atg>Ctg	p.M723L	ARPP21_ENST00000458225.1_Missense_Mutation_p.M724L|ARPP21_ENST00000337271.5_Missense_Mutation_p.M704L|ARPP21_ENST00000444190.1_Missense_Mutation_p.M704L|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.M724L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	723	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.M723L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTACCCAACAATGTCTTCTTA	0.473																																					p.M723L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2167C	3						.						145.0	127.0	133.0					3																	35834008		2203	4300	6503	35809012	SO:0001583	missense	10777	exon19			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2167A>C	3.37:g.35834008A>C	ENSP00000187397:p.Met723Leu	Somatic		Capture	Illumina HiSeq	Phase_I	35809012	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	8.240	0.806713	0.16467	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.22336	1.96;1.97;1.97;2.01;1.96	5.71	4.55	0.56014	.	0.061461	0.64402	D	0.000002	T	0.13798	0.0334	L	0.39633	1.23	0.31889	N	0.617454	B;B;B;B	0.25955	0.046;0.138;0.011;0.095	B;B;B;B	0.23852	0.012;0.049;0.003;0.017	T	0.20974	-1.0259	10	0.06236	T	0.91	-5.1278	8.3806	0.32468	0.8455:0.0:0.1545:0.0	.	724;246;723;704	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	L	724;704;704;723;724	ENSP00000414351:M724L;ENSP00000337792:M704L;ENSP00000405276:M704L;ENSP00000187397:M723L;ENSP00000412326:M724L	ENSP00000187397:M723L	M	+	1	0	ARPP21	35809012	0.998000	0.40836	0.929000	0.37066	0.962000	0.63368	3.487000	0.53222	0.982000	0.38575	0.533000	0.62120	ATG		0.473	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
STAC	6769	broad.mit.edu	37	3	36547227	36547227	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:36547227T>G	ENST00000273183.3	+	8	1131				STAC_ENST00000476388.1_Intron|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain						cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ttcttttattttctctttcAG	0.348																																					.												.	.	0			.	3						.						29.0	31.0	30.0					3																	36547227		2192	4293	6485	36522231	SO:0001627	intron_variant	6769	.			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.832-11T>G	3.37:g.36547227T>G		Somatic		Capture	Illumina HiSeq	Phase_I	36522231	.	B2R8S8	Intron	SNP	ENST00000273183.3	37	CCDS2662.1																																																																																				0.348	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
TRANK1	9881	broad.mit.edu	37	3	36872837	36872837	+	Missense_Mutation	SNP	C	C	T	rs199557080		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:36872837C>T	ENST00000429976.2	-	21	8352	c.8105G>A	c.(8104-8106)cGt>cAt	p.R2702H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R2152H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R2152H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2702							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.R2702H(1)|p.R2145H(1)|p.R2152H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCCCTGACACGCTCCATCTG	0.587																																					p.R2702H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G8105A	3						.	C	HIS/ARG	1,4145		0,1,2072	46.0	48.0	47.0		8105	-11.0	0.0	3		47	0,8400		0,0,4200	yes	missense	TRANK1	NM_014831.2	29	0,1,6272	TT,TC,CC		0.0,0.0241,0.0080	benign	2702/2926	36872837	1,12545	2073	4200	6273	36847841	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8105G>A	3.37:g.36872837C>T	ENSP00000416168:p.Arg2702His	Somatic		Capture	Illumina HiSeq	Phase_I	36847841	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	3.738	-0.054229	0.07362	2.41E-4	0.0	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32988	1.43;1.84;1.43	5.49	-11.0	0.00169	.	1.592370	0.03278	N	0.185722	T	0.08492	0.0211	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20874	-1.0262	10	0.32370	T	0.25	.	4.8734	0.13644	0.0801:0.1382:0.2482:0.5335	.	2702	O15050	TRNK1_HUMAN	H	2152;2702;2152	ENSP00000416826:R2152H;ENSP00000416168:R2702H;ENSP00000301807:R2152H	ENSP00000301807:R2152H	R	-	2	0	TRANK1	36847841	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.142000	0.03203	-1.666000	0.01475	-1.131000	0.01979	CGT		0.587	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36874434	36874434	+	Missense_Mutation	SNP	G	G	A	rs375370078		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:36874434G>A	ENST00000429976.2	-	21	6755	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1620W|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1620W	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2170							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.R1620W(1)|p.R1613W(1)|p.R2170W(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCACAACGCCGCAGAGGCCTG	0.448																																					p.R2170W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C6508T	3						.						33.0	32.0	33.0					3																	36874434		1888	4111	5999	36849438	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6508C>T	3.37:g.36874434G>A	ENSP00000416168:p.Arg2170Trp	Somatic		Capture	Illumina HiSeq	Phase_I	36849438	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250543	0.39797	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32988	1.43;1.85;1.43	5.16	0.65	0.17812	.	0.180058	0.25094	N	0.033183	T	0.29321	0.0730	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.54706	0.759	T	0.11372	-1.0590	10	0.51188	T	0.08	.	5.918	0.19065	0.2028:0.0:0.2243:0.5729	.	2170	O15050	TRNK1_HUMAN	W	1620;2170;1620	ENSP00000416826:R1620W;ENSP00000416168:R2170W;ENSP00000301807:R1620W	ENSP00000301807:R1620W	R	-	1	2	TRANK1	36849438	0.152000	0.22762	0.720000	0.30636	0.765000	0.43378	0.104000	0.15313	-0.121000	0.11787	0.555000	0.69702	CGG		0.448	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
LRRFIP2	9209	broad.mit.edu	37	3	37107771	37107771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:37107771G>A	ENST00000336686.4	-	22	1590	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421307.1_Nonsense_Mutation_p.R504*|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	504					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)|p.R504*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCATATCTCGCTCATTCCTA	0.478																																					p.R504X												.	.	2	Substitution - Nonsense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.C1510T	3						.						214.0	192.0	199.0					3																	37107771		2203	4300	6503	37082775	SO:0001587	stop_gained	9209	exon23			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1510C>T	3.37:g.37107771G>A	ENSP00000338727:p.Arg504*	Somatic		Capture	Illumina HiSeq	Phase_I	37082775	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Nonsense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.831823|4.831823	0.91036|0.91036	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000440742|ENST00000421307;ENST00000336686	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.61022|.	0.2314|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50233|.	-0.8852|.	3|.	.|0.07644	.|T	.|0.81	-6.66|-6.66	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	85|504	.|.	.|ENSP00000338727:R504X	A|R	-|-	2|1	0|2	LRRFIP2|LRRFIP2	37082775|37082775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.024000|4.024000	0.57218|0.57218	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.478	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
GOLGA4	2803	broad.mit.edu	37	3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1561	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1561*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACACAAAGAATTGGTTCA	0.308																																					p.E1583X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4747T	3						.						69.0	80.0	76.0					3																	37368058		2198	4295	6493	37343062	SO:0001587	stop_gained	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4681G>T	3.37:g.37368058G>T	ENSP00000354486:p.Glu1561*	Somatic		Capture	Illumina HiSeq	Phase_I	37343062	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	44	11.128092	0.99519	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.46	4.46	0.54185	.	0.214996	0.23594	N	0.046501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	1561;1583;1432	.	ENSP00000349305:E1583X	E	+	1	0	GOLGA4	37343062	1.000000	0.71417	0.321000	0.25320	0.910000	0.53928	6.029000	0.70895	2.417000	0.82017	0.462000	0.41574	GAA		0.308	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37368975	37368975	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:37368975G>T	ENST00000361924.2	+	14	5972	c.5598G>T	c.(5596-5598)caG>caT	p.Q1866H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1888H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1866	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q1866H(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAGTAAGACAGAAAGAAGTAC	0.383																																					p.Q1888H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5664T	3						.						55.0	58.0	57.0					3																	37368975		2203	4299	6502	37343979	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5598G>T	3.37:g.37368975G>T	ENSP00000354486:p.Gln1866His	Somatic		Capture	Illumina HiSeq	Phase_I	37343979	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926205	0.34002	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22945	1.93;1.93;1.93	5.11	3.25	0.37280	.	0.239230	0.21663	N	0.070998	T	0.15869	0.0382	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.41569	0.755;0.755;0.755;0.571	B;B;B;B	0.37888	0.26;0.26;0.26;0.116	T	0.06917	-1.0800	10	0.48119	T	0.1	.	8.845	0.35164	0.2525:0.0:0.7475:0.0	.	1866;1866;1888;1866	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	H	1866;1888;1737	ENSP00000354486:Q1866H;ENSP00000349305:Q1888H;ENSP00000405842:Q1737H	ENSP00000349305:Q1888H	Q	+	3	2	GOLGA4	37343979	0.995000	0.38212	0.968000	0.41197	0.977000	0.68977	0.244000	0.18124	0.502000	0.28037	0.549000	0.68633	CAG		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
PLCD1	5333	broad.mit.edu	37	3	38050035	38050035	+	Missense_Mutation	SNP	C	C	T	rs377720403		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38050035C>T	ENST00000334661.4	-	12	2038	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	PLCD1_ENST00000463876.1_Missense_Mutation_p.A627T|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	606	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)	p.A606T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGCAGGAAGGCGGGCTTCAGC	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.0				p.A606T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	3						.						64.0	66.0	65.0					3																	38050035		2203	4300	6503	38025039	SO:0001583	missense	5333	exon12				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1816G>A	3.37:g.38050035C>T	ENSP00000335600:p.Ala606Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38025039	NM_006225	B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878950	0.33162	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.63580	-0.05;-0.05	4.71	1.79	0.24919	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.604547	0.17876	N	0.159029	T	0.53514	0.1801	M	0.72479	2.2	0.23700	N	0.997077	P;P	0.43477	0.808;0.478	B;B	0.38428	0.169;0.273	T	0.50524	-0.8818	10	0.52906	T	0.07	.	4.1593	0.10275	0.2875:0.4957:0.1393:0.0776	.	606;627	P51178;B3KR14	PLCD1_HUMAN;.	T	627;606	ENSP00000430344:A627T;ENSP00000335600:A606T	ENSP00000335600:A606T	A	-	1	0	PLCD1	38025039	0.000000	0.05858	0.882000	0.34594	0.893000	0.52053	0.267000	0.18552	0.141000	0.18875	-1.108000	0.02087	GCC		0.652	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
PLCD1	5333	broad.mit.edu	37	3	38050848	38050848	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38050848G>T	ENST00000334661.4	-	10	1743	c.1521C>A	c.(1519-1521)ttC>ttA	p.F507L	PLCD1_ENST00000463876.1_Missense_Mutation_p.F528L|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	507	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)	p.F507L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGGACTGGAGAAGCCCCCAA	0.597																																					p.F507L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1521A	3						.						66.0	73.0	71.0					3																	38050848		2203	4300	6503	38025852	SO:0001583	missense	5333	exon10				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1521C>A	3.37:g.38050848G>T	ENSP00000335600:p.Phe507Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38025852	NM_006225	B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705565	0.48412	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68624	-0.34;-0.34	5.04	4.16	0.48862	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.046555	0.85682	D	0.000000	T	0.68851	0.3046	L	0.55213	1.73	0.53005	D	0.999964	P;B	0.41008	0.735;0.37	P;P	0.49140	0.524;0.601	T	0.69213	-0.5204	10	0.49607	T	0.09	.	10.9542	0.47347	0.1581:0.0:0.8419:0.0	.	507;528	P51178;B3KR14	PLCD1_HUMAN;.	L	528;507	ENSP00000430344:F528L;ENSP00000335600:F507L	ENSP00000335600:F507L	F	-	3	2	PLCD1	38025852	0.005000	0.15991	0.974000	0.42286	0.717000	0.41224	-0.038000	0.12144	1.271000	0.44313	0.555000	0.69702	TTC		0.597	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
DLEC1	9940	broad.mit.edu	37	3	38080951	38080951	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38080951C>T	ENST00000308059.6	+	1	256	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	DLEC1_ENST00000346219.3_Silent_p.L79L|DLEC1_ENST00000452631.2_Silent_p.L79L					deleted in lung and esophageal cancer 1									p.L79L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAGCCTCAGCTGCTTCGTCT	0.657																																					p.L79L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C235T	3						.						35.0	40.0	39.0					3																	38080951		2007	4174	6181	38055955	SO:0001819	synonymous_variant	9940	exon1			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.235C>T	3.37:g.38080951C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38055955	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.657	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
DLEC1	9940	broad.mit.edu	37	3	38153807	38153807	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38153807C>T	ENST00000308059.6	+	25	3642	c.3621C>T	c.(3619-3621)ggC>ggT	p.G1207G	DLEC1_ENST00000346219.3_Silent_p.G1207G|DLEC1_ENST00000452631.2_Silent_p.G1210G					deleted in lung and esophageal cancer 1									p.G1207G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACATCACAGGCTGTGCCAACA	0.597																																					p.G1207G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3621T	3						.						102.0	108.0	106.0					3																	38153807		2071	4203	6274	38128811	SO:0001819	synonymous_variant	9940	exon25			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3621C>T	3.37:g.38153807C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38128811	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
DLEC1	9940	broad.mit.edu	37	3	38159469	38159469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38159469C>T	ENST00000308059.6	+	33	4679	c.4658C>T	c.(4657-4659)gCc>gTc	p.A1553V	DLEC1_ENST00000346219.3_Missense_Mutation_p.A1553V|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1556V					deleted in lung and esophageal cancer 1									p.A1553V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGGAGACAGCCTCAGCGGAC	0.607											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1553V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4658T	3						.						41.0	50.0	47.0					3																	38159469		2185	4285	6470	38134473	SO:0001583	missense	9940	exon33			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4658C>T	3.37:g.38159469C>T	ENSP00000308597:p.Ala1553Val	Somatic	876	Capture	Illumina HiSeq	Phase_I	38134473	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566851	0.45694	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.73	4.66	0.573	0.17363	.	0.633028	0.14667	N	0.305621	T	0.07638	0.0192	L	0.57536	1.79	0.09310	N	1	P;P;B;P;P	0.51933	0.949;0.949;0.021;0.892;0.949	P;P;B;P;P	0.48189	0.492;0.492;0.021;0.57;0.492	T	0.23226	-1.0194	10	0.27785	T	0.31	-10.4077	1.1632	0.01810	0.3075:0.3555:0.1077:0.2292	.	1556;1553;1553;1553;1553	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	V	1553;1553;1556	ENSP00000308597:A1553V;ENSP00000315914:A1553V;ENSP00000410427:A1556V	ENSP00000308597:A1553V	A	+	2	0	DLEC1	38134473	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.531000	0.06171	0.407000	0.25591	-0.266000	0.10368	GCC		0.607	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
OXSR1	9943	broad.mit.edu	37	3	38291457	38291457	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38291457G>A	ENST00000446845.1	+	15	1695	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	OXSR1_ENST00000311806.3_Splice_Site_p.R441R					oxidative stress responsive 1									p.R441R(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTTTCATAGGAATTCCAAAA	0.318																																					p.R441R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1323A	3						.						48.0	51.0	50.0					3																	38291457		2203	4295	6498	38266461	SO:0001630	splice_region_variant	9943	exon15			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1323-1G>A	3.37:g.38291457G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38266461	NM_005109		Silent	SNP	ENST00000446845.1	37																																																																																					0.318	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	Silent
ACVR2B	93	broad.mit.edu	37	3	38523772	38523772	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38523772G>T	ENST00000352511.4	+	9	1630	c.1158G>T	c.(1156-1158)atG>atT	p.M386I		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.M386I(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCATTGACATGTATGCCATGG	0.567																																					p.M386I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1158T	3						.						126.0	95.0	106.0					3																	38523772		2203	4300	6503	38498776	SO:0001583	missense	93	exon9			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1158G>T	3.37:g.38523772G>T	ENSP00000340361:p.Met386Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38498776	NM_001106	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798827	0.90538	.	.	ENSG00000114739	ENST00000352511	D	0.91945	-2.94	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	N	0.12637	0.245	0.80722	D	1	B	0.18741	0.03	B	0.24269	0.052	T	0.80906	-0.1173	10	0.40728	T	0.16	.	19.5661	0.95393	0.0:0.0:1.0:0.0	.	386	Q13705	AVR2B_HUMAN	I	386	ENSP00000340361:M386I	ENSP00000340361:M386I	M	+	3	0	ACVR2B	38498776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.617000	0.88574	0.563000	0.77884	ATG		0.567	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
SCN10A	6336	broad.mit.edu	37	3	38755504	38755504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38755504C>T	ENST00000449082.2	-	21	3748	c.3749G>A	c.(3748-3750)cGa>cAa	p.R1250Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1250					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1250Q(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCGAAGGGTTCGAAGGGCTTT	0.522																																					p.R1250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3749A	3						.						100.0	100.0	100.0					3																	38755504		2203	4300	6503	38730508	SO:0001583	missense	6336	exon21			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3749G>A	3.37:g.38755504C>T	ENSP00000390600:p.Arg1250Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38730508	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892197	0.72524	.	.	ENSG00000185313	ENST00000449082	D	0.98617	-5.03	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.99988	5.28	0.48452	D	0.999652	D	0.61080	0.989	P	0.53102	0.718	D	0.97498	1.0058	10	0.87932	D	0	.	16.7926	0.85593	0.0:1.0:0.0:0.0	.	1250	Q9Y5Y9	SCNAA_HUMAN	Q	1250	ENSP00000390600:R1250Q	ENSP00000390600:R1250Q	R	-	2	0	SCN10A	38730508	1.000000	0.71417	0.999000	0.59377	0.088000	0.18126	5.917000	0.69989	2.181000	0.69327	0.411000	0.27672	CGA		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38812792	38812792	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38812792C>A	ENST00000449082.2	-	4	576	c.577G>T	c.(577-579)Gat>Tat	p.D193Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D193Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACGCTAAAATCCAGCCAGTTC	0.448																																					p.D193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577T	3						.						167.0	159.0	162.0					3																	38812792		2203	4300	6503	38787796	SO:0001583	missense	6336	exon4			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.577G>T	3.37:g.38812792C>A	ENSP00000390600:p.Asp193Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38787796	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569490	0.86439	.	.	ENSG00000185313	ENST00000449082	D	0.99399	-5.83	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.99740	4.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96516	0.9382	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	193	Q9Y5Y9	SCNAA_HUMAN	Y	193	ENSP00000390600:D193Y	ENSP00000390600:D193Y	D	-	1	0	SCN10A	38787796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.317000	0.79018	2.665000	0.90641	0.655000	0.94253	GAT		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	broad.mit.edu	37	3	38888499	38888499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:38888499C>T	ENST00000302328.3	-	26	5260	c.5062G>A	c.(5062-5064)Gcc>Acc	p.A1688T	SCN11A_ENST00000450244.1_Missense_Mutation_p.A1688T|SCN11A_ENST00000456224.3_Missense_Mutation_p.A1650T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1688					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1688T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCGGTGAAGGCGAAAAGAATA	0.453																																					p.A1688T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5062A	3						.						111.0	112.0	112.0					3																	38888499		2203	4300	6503	38863503	SO:0001583	missense	11280	exon26			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5062G>A	3.37:g.38888499C>T	ENSP00000307599:p.Ala1688Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38863503	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024565	0.75390	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98221	-4.8;-4.8;-4.73	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	M	0.89534	3.04	0.50313	D	0.999868	D	0.62365	0.991	P	0.49665	0.618	D	0.99857	1.1078	10	0.87932	D	0	.	18.7766	0.91913	0.0:1.0:0.0:0.0	.	1688	Q9UI33	SCNBA_HUMAN	T	1688;1688;1650	ENSP00000307599:A1688T;ENSP00000400945:A1688T;ENSP00000416757:A1650T	ENSP00000307599:A1688T	A	-	1	0	SCN11A	38863503	1.000000	0.71417	0.419000	0.26584	0.574000	0.36063	7.770000	0.85390	2.427000	0.82271	0.650000	0.86243	GCC		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
WDR48	57599	broad.mit.edu	37	3	39107391	39107391	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39107391C>A	ENST00000302313.5	+	3	296				WDR48_ENST00000418020.1_Intron|WDR48_ENST00000396258.3_Intron|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48						double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTAAGTATTTCTTTGGATTAT	0.303																																					.												.	.	0			.	3						.						87.0	95.0	93.0					3																	39107391		2203	4299	6502	39082395	SO:0001627	intron_variant	57599	.			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.268+11C>A	3.37:g.39107391C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39082395	.	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Intron	SNP	ENST00000302313.5	37	CCDS33738.1																																																																																				0.303	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839	
TTC21A	199223	broad.mit.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A	rs373627662		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458																																					p.S270Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C809A	3						.						127.0	123.0	124.0					3																	39159652		1935	4165	6100	39134656	SO:0001583	missense	199223	exon7			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39134656	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CSRNP1	64651	broad.mit.edu	37	3	39185523	39185523	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39185523C>T	ENST00000273153.5	-	5	970	c.793G>A	c.(793-795)Gca>Aca	p.A265T	CSRNP1_ENST00000514182.1_Missense_Mutation_p.A265T	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	265	Cys-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A265T(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAGGGGAATGCTGTGTGGTCC	0.552																																					p.A265T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	3						.						39.0	39.0	39.0					3																	39185523		2203	4300	6503	39160527	SO:0001583	missense	64651	exon5			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.793G>A	3.37:g.39185523C>T	ENSP00000273153:p.Ala265Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39160527	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391924	0.25118	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	4.48	1.01	0.19927	.	0.611217	0.17012	N	0.190450	T	0.13670	0.0331	L	0.40543	1.245	0.09310	N	1	B	0.25904	0.137	B	0.28011	0.085	T	0.21211	-1.0252	10	0.54805	T	0.06	-6.364	7.9569	0.30049	0.6582:0.2538:0.0:0.088	.	265	Q96S65	CSRN1_HUMAN	T	265	ENSP00000273153:A265T;ENSP00000422532:A265T	ENSP00000273153:A265T	A	-	1	0	CSRNP1	39160527	0.026000	0.19158	0.001000	0.08648	0.884000	0.51177	0.812000	0.27211	0.438000	0.26450	0.561000	0.74099	GCA		0.552	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
XIRP1	165904	broad.mit.edu	37	3	39228789	39228789	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39228789G>A	ENST00000340369.3	-	2	2376	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I716I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	716					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.I716I(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGACCCAGCGATTACCCGGG	0.592																																					p.I716I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2148T	3						.						53.0	56.0	55.0					3																	39228789		2203	4300	6503	39203793	SO:0001819	synonymous_variant	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2148C>T	3.37:g.39228789G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39203793	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
XIRP1	165904	broad.mit.edu	37	3	39229616	39229616	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39229616A>G	ENST00000340369.3	-	2	1549	c.1321T>C	c.(1321-1323)Ttt>Ctt	p.F441L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.F441L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	441					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.F441L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGTTCTTAAAAGTCTTCACA	0.547																																					p.F441L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1321C	3						.						172.0	185.0	181.0					3																	39229616		2203	4300	6503	39204620	SO:0001583	missense	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1321T>C	3.37:g.39229616A>G	ENSP00000343140:p.Phe441Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39204620	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904885	0.72868	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.09073	3.02;3.34	5.17	5.17	0.71159	.	0.052484	0.85682	D	0.000000	T	0.28466	0.0704	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.912;0.999	T	0.01500	-1.1339	10	0.72032	D	0.01	.	13.2778	0.60198	1.0:0.0:0.0:0.0	.	441;441	Q702N8;Q702N8-2	XIRP1_HUMAN;.	L	441	ENSP00000379550:F441L;ENSP00000343140:F441L	ENSP00000343140:F441L	F	-	1	0	XIRP1	39204620	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.962000	0.93254	2.089000	0.63090	0.533000	0.62120	TTT		0.547	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000542107.1_Silent_p.I238I|CX3CR1_ENST00000358309.3_Silent_p.I270I|CX3CR1_ENST00000399220.2_Silent_p.I238I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428																																					p.I270I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810T	3						.						108.0	115.0	113.0					3																	39307287		1946	4142	6088	39282291	SO:0001819	synonymous_variant	1524	exon2			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.714C>T	3.37:g.39307287G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39282291	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	CCDS43069.1																																																																																				0.428	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
CCR8	1237	broad.mit.edu	37	3	39373942	39373942	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39373942C>A	ENST00000326306.4	+	2	258	c.120C>A	c.(118-120)gtC>gtA	p.V40V	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	40					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.V40V(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCCTTGCTGTCTTTTATTGCC	0.473																																					p.V40V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120A	3						.						228.0	205.0	212.0					3																	39373942		2203	4300	6503	39348946	SO:0001819	synonymous_variant	1237	exon2			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.120C>A	3.37:g.39373942C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39348946	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	CCDS2684.1																																																																																				0.473	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
MYRIP	25924	broad.mit.edu	37	3	39942342	39942342	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:39942342A>C	ENST00000302541.6	+	2	377	c.35A>C	c.(34-36)gAt>gCt	p.D12A	MYRIP_ENST00000396217.3_5'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.D12A|MYRIP_ENST00000444716.1_Missense_Mutation_p.D12A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	12	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.D12A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGTTTGACTGATGATGAAACA	0.423																																					p.D12A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A35C	3						.						167.0	156.0	160.0					3																	39942342		2203	4300	6503	39917346	SO:0001583	missense	25924	exon2			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.35A>C	3.37:g.39942342A>C	ENSP00000301972:p.Asp12Ala	Somatic		Capture	Illumina HiSeq	Phase_I	39917346	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310062	0.81247	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621	T;T;T	0.77620	-1.11;-1.11;-1.11	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000006	D	0.84656	0.5520	L	0.57536	1.79	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.988	P;D;P	0.70716	0.904;0.97;0.685	D	0.84259	0.0482	9	.	.	.	.	13.6665	0.62398	1.0:0.0:0.0:0.0	.	12;12;12	B3KWW4;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	A	12	ENSP00000398665:D12A;ENSP00000301972:D12A;ENSP00000389323:D12A	.	D	+	2	0	MYRIP	39917346	1.000000	0.71417	0.687000	0.30102	0.999000	0.98932	8.201000	0.89735	2.182000	0.69389	0.529000	0.55759	GAT		0.423	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
ENTPD3	956	broad.mit.edu	37	3	40465435	40465435	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:40465435A>G	ENST00000301825.3	+	10	1452	c.1334A>G	c.(1333-1335)cAa>cGa	p.Q445R	ENTPD3_ENST00000445129.1_Missense_Mutation_p.Q445R|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.Q445R|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	445					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Q445R(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACTTGGCCCCAAATACACTTT	0.393																																					p.Q445R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1334G	3						.						110.0	102.0	105.0					3																	40465435		2203	4300	6503	40440439	SO:0001583	missense	956	exon10			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1334A>G	3.37:g.40465435A>G	ENSP00000301825:p.Gln445Arg	Somatic		Capture	Illumina HiSeq	Phase_I	40440439	NM_001248	B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	A	7.889	0.731936	0.15507	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.11385	2.78;2.78;2.78	5.47	5.47	0.80525	.	0.469251	0.25475	N	0.030405	T	0.09247	0.0228	L	0.31526	0.94	0.24743	N	0.993028	P	0.36027	0.533	B	0.37387	0.248	T	0.28650	-1.0037	10	0.12430	T	0.62	-0.3224	13.8026	0.63212	1.0:0.0:0.0:0.0	.	445	O75355	ENTP3_HUMAN	R	445	ENSP00000301825:Q445R;ENSP00000401565:Q445R;ENSP00000404671:Q445R	ENSP00000301825:Q445R	Q	+	2	0	ENTPD3	40440439	0.991000	0.36638	0.909000	0.35828	0.272000	0.26649	3.883000	0.56168	2.202000	0.70862	0.482000	0.46254	CAA		0.393	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248	
ZNF619	285267	broad.mit.edu	37	3	40528924	40528924	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:40528924G>T	ENST00000314686.5	+	6	1280	c.875G>T	c.(874-876)aGa>aTa	p.R292I	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.R308I|ZNF619_ENST00000432264.2_Missense_Mutation_p.R308I|ZNF619_ENST00000456778.1_Missense_Mutation_p.R264I|ZNF619_ENST00000521353.1_Missense_Mutation_p.R348I|ZNF619_ENST00000522736.1_Missense_Mutation_p.R299I|ZNF619_ENST00000447116.2_Missense_Mutation_p.R348I			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R292I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGGCATCAGAGAATCCATACT	0.438																																					p.R264I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791T	3						.						65.0	68.0	67.0					3																	40528924		2203	4300	6503	40503928	SO:0001583	missense	285267	exon4			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.875G>T	3.37:g.40528924G>T	ENSP00000322529:p.Arg292Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40503928	NM_001145083	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	G	16.12	3.033991	0.54896	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	2.87	-0.231	0.13086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33818	0.0876	L	0.56340	1.77	0.38963	D	0.95858	D;D;D;D;D;P	0.69078	0.997;0.957;0.957;0.987;0.977;0.941	P;P;P;P;P;P	0.61201	0.816;0.481;0.481;0.885;0.578;0.536	T	0.28744	-1.0034	9	0.87932	D	0	.	3.7093	0.08413	0.2398:0.0:0.568:0.1921	.	264;308;348;250;299;292	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	I	292;348;308;264;299;348;308	ENSP00000322529:R292I;ENSP00000411132:R348I;ENSP00000398024:R308I;ENSP00000397232:R264I;ENSP00000428004:R299I;ENSP00000430705:R348I;ENSP00000388710:R308I	ENSP00000322529:R292I	R	+	2	0	ZNF619	40503928	0.000000	0.05858	0.719000	0.30619	0.820000	0.46376	0.747000	0.26290	-0.198000	0.10333	-0.253000	0.11424	AGA		0.438	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ZNF619	285267	broad.mit.edu	37	3	40529008	40529008	+	Missense_Mutation	SNP	G	G	A	rs143973123	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:40529008G>A	ENST00000314686.5	+	6	1364	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.R336Q|ZNF619_ENST00000432264.2_Missense_Mutation_p.R336Q|ZNF619_ENST00000456778.1_Missense_Mutation_p.R292Q|ZNF619_ENST00000521353.1_Missense_Mutation_p.R376Q|ZNF619_ENST00000522736.1_Missense_Mutation_p.R327Q|ZNF619_ENST00000447116.2_Missense_Mutation_p.R376Q			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R320Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATCCATGAACGAATTCACAAT	0.448																																					p.R292Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G875A	3						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	77.0	78.0	77.0		1127,875,1007	-0.4	0.2	3	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ZNF619	NM_001145082.2,NM_001145083.1,NM_001145093.2	43,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	376/617,292/533,336/577	40529008	2,13004	2203	4300	6503	40504012	SO:0001583	missense	285267	exon4			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.959G>A	3.37:g.40529008G>A	ENSP00000322529:p.Arg320Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40504012	NM_001145083	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997097	0.54147	0.0	2.33E-4	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32	2.54	-0.388	0.12459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	M	0.64260	1.97	0.24232	N	0.995392	D;P;P;D;P;D	0.76494	0.999;0.727;0.727;0.999;0.885;0.999	P;B;B;D;B;P	0.64877	0.852;0.111;0.111;0.93;0.111;0.852	T	0.17992	-1.0351	9	0.87932	D	0	.	6.3386	0.21310	0.4217:0.0:0.5783:0.0	.	292;336;376;278;327;320	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	Q	320;376;336;292;327;376;336	ENSP00000322529:R320Q;ENSP00000411132:R376Q;ENSP00000398024:R336Q;ENSP00000397232:R292Q;ENSP00000428004:R327Q;ENSP00000430705:R376Q;ENSP00000388710:R336Q	ENSP00000322529:R320Q	R	+	2	0	ZNF619	40504012	0.000000	0.05858	0.162000	0.22713	0.761000	0.43186	0.494000	0.22467	0.015000	0.14971	-0.251000	0.11542	CGA		0.448	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ZNF619	285267	broad.mit.edu	37	3	40529743	40529743	+	3'UTR	SNP	G	G	A	rs374778153		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:40529743G>A	ENST00000314686.5	+	0	2099				ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_3'UTR|ZNF619_ENST00000432264.2_3'UTR|ZNF619_ENST00000456778.1_3'UTR|ZNF619_ENST00000521353.1_3'UTR|ZNF619_ENST00000522736.1_3'UTR|ZNF619_ENST00000447116.2_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCCGTCACGTTCTCAAAAT	0.448																																					.												.	.	0			.	3						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	52.0	56.0	55.0		,,	-0.5	0.0	3		55	0,8600		0,0,4300	no	utr-3,utr-3,utr-3	ZNF619	NM_001145082.2,NM_001145083.1,NM_001145093.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,,	40529743	1,13005	2203	4300	6503	40504747	SO:0001624	3_prime_UTR_variant	285267	.			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.*11G>A	3.37:g.40529743G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40504747	.	B4E271|C9JRN5|D4PHA2|E9PCD9	3'UTR	SNP	ENST00000314686.5	37																																																																																					0.448	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ULK4	54986	broad.mit.edu	37	3	41439612	41439612	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:41439612G>A	ENST00000301831.4	-	35	4098	c.3636C>T	c.(3634-3636)gaC>gaT	p.D1212D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1212					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D364D(1)|p.D1212D(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCTCCTTTGGGTCCTCCTTGG	0.498																																					p.D1212D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3636T	3						.						95.0	94.0	94.0					3																	41439612		1895	4110	6005	41414616	SO:0001819	synonymous_variant	54986	exon35			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3636C>T	3.37:g.41439612G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41414616	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	CCDS43071.1																																																																																				0.498	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ULK4	54986	broad.mit.edu	37	3	41723017	41723017	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:41723017C>T	ENST00000301831.4	-	29	3422	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	987					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R987Q(1)|p.R139Q(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TAAGACATCTCGAATGAGAGC	0.468																																					p.R987Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2960A	3						.						121.0	117.0	118.0					3																	41723017		1963	4142	6105	41698021	SO:0001583	missense	54986	exon29			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2960G>A	3.37:g.41723017C>T	ENSP00000301831:p.Arg987Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41698021	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.286703	0.80803	.	.	ENSG00000168038	ENST00000301831	T	0.64260	-0.09	5.75	5.75	0.90469	Armadillo-type fold (1);	0.537072	0.15973	U	0.235657	T	0.72244	0.3436	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	P	0.56788	0.806	T	0.71922	-0.4446	10	0.56958	D	0.05	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	987	Q96C45	ULK4_HUMAN	Q	987	ENSP00000301831:R987Q	ENSP00000301831:R987Q	R	-	2	0	ULK4	41698021	1.000000	0.71417	0.778000	0.31720	0.942000	0.58702	2.826000	0.48104	2.716000	0.92895	0.655000	0.94253	CGA		0.468	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ULK4	54986	broad.mit.edu	37	3	41960009	41960009	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:41960009T>G	ENST00000301831.4	-	7	1129	c.667A>C	c.(667-669)Agt>Cgt	p.S223R	ULK4_ENST00000420927.1_Missense_Mutation_p.S223R	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs55840267). {ECO:0000269|PubMed:17344846}.		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S223R(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTGAAATACTTTCTGAGAAG	0.274																																					p.S223R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A667C	3						.						63.0	63.0	63.0					3																	41960009		1816	4077	5893	41935013	SO:0001583	missense	54986	exon7			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.667A>C	3.37:g.41960009T>G	ENSP00000301831:p.Ser223Arg	Somatic		Capture	Illumina HiSeq	Phase_I	41935013	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096764	0.36952	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.75821	-0.97;1.71	5.4	3.02	0.34903	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.593971	0.19635	N	0.109585	T	0.67144	0.2862	L	0.53671	1.685	0.58432	D	0.999999	B;B	0.09022	0.002;0.002	B;B	0.18871	0.015;0.023	T	0.61431	-0.7064	10	0.66056	D	0.02	.	7.5333	0.27695	0.1304:0.0:0.1651:0.7045	.	223;223	B4E2M4;Q96C45	.;ULK4_HUMAN	R	223	ENSP00000301831:S223R;ENSP00000412187:S223R	ENSP00000301831:S223R	S	-	1	0	ULK4	41935013	0.998000	0.40836	0.294000	0.24946	0.763000	0.43281	3.242000	0.51384	0.349000	0.23975	0.477000	0.44152	AGT		0.274	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
TRAK1	22906	broad.mit.edu	37	3	42244045	42244045	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42244045C>A	ENST00000327628.5	+	13	1945	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L	TRAK1_ENST00000341421.3_Missense_Mutation_p.F457L|TRAK1_ENST00000396175.1_Missense_Mutation_p.F457L|TRAK1_ENST00000449246.1_Missense_Mutation_p.F441L|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	515					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.F457L(2)|p.F515L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGAGGAGGTTCTTTGAGGAGG	0.672																																					p.F515L	GBM(44;195 884 22595 31865 41850)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1545A	3						.						34.0	42.0	39.0					3																	42244045		2203	4300	6503	42219049	SO:0001583	missense	22906	exon13				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1545C>A	3.37:g.42244045C>A	ENSP00000328998:p.Phe515Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42219049	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389401	0.95988	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.95	5.07	0.68467	Trafficking kinesin-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D	0.71674	0.994;0.998;0.996;0.995;0.997;0.998	D;D;D;P;D;D	0.70487	0.924;0.924;0.949;0.908;0.969;0.963	T	0.72100	-0.4392	10	0.87932	D	0	.	13.676	0.62454	0.0:0.9268:0.0:0.0732	.	441;457;515;457;441;515	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	L	515;515;441;457;457;233	ENSP00000328998:F515L;ENSP00000410717:F441L;ENSP00000379478:F457L;ENSP00000340702:F457L;ENSP00000413729:F233L	ENSP00000328998:F515L	F	+	3	2	TRAK1	42219049	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.026000	0.70873	2.824000	0.97209	0.655000	0.94253	TTC		0.672	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
CCK	885	broad.mit.edu	37	3	42299630	42299630	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42299630A>G	ENST00000396169.2	-	5	1213	c.308T>C	c.(307-309)tTt>tCt	p.F103S	CCK_ENST00000334681.5_Missense_Mutation_p.F103S|CCK_ENST00000434608.1_Missense_Mutation_p.F103S	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.F103S(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GCGACGGCCAAAATCCATCCA	0.572																																					p.F103S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T308C	3						.						117.0	103.0	108.0					3																	42299630		2203	4300	6503	42274634	SO:0001583	missense	885	exon3				CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.308T>C	3.37:g.42299630A>G	ENSP00000379472:p.Phe103Ser	Somatic		Capture	Illumina HiSeq	Phase_I	42274634	NM_001174138		Missense_Mutation	SNP	ENST00000396169.2	37	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.010971	0.93346	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.65916	-0.18;-0.18;-0.18	5.7	5.7	0.88788	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.095207	0.64402	N	0.000001	T	0.82268	0.5000	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85873	0.1417	10	0.87932	D	0	-5.6336	15.2017	0.73142	1.0:0.0:0.0:0.0	.	103	P06307	CCKN_HUMAN	S	103	ENSP00000379472:F103S;ENSP00000335657:F103S;ENSP00000409124:F103S	ENSP00000335657:F103S	F	-	2	0	CCK	42274634	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	8.958000	0.93099	2.179000	0.69175	0.529000	0.55759	TTT		0.572	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729	
NKTR	4820	broad.mit.edu	37	3	42659052	42659052	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42659052T>G	ENST00000232978.8	+	3	246				NKTR_ENST00000442970.1_Intron|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor						protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCCTATGTATTTTATTTCAGT	0.299																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						136.0	123.0	128.0					3																	42659052		2203	4299	6502	42634056	SO:0001627	intron_variant	4820	.				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.59-10T>G	3.37:g.42659052T>G		Somatic		Capture	Illumina HiSeq	Phase_I	42634056	.		Intron	SNP	ENST00000232978.8	37	CCDS2702.1																																																																																				0.299	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
ZBTB47	92999	broad.mit.edu	37	3	42704550	42704550	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42704550C>A	ENST00000232974.6	+	4	1949	c.1668C>A	c.(1666-1668)tcC>tcA	p.S556S	ZBTB47_ENST00000457842.3_Silent_p.S180S|ZBTB47_ENST00000505904.1_Silent_p.S102S			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S556S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GCGGAAAGTCCTTCAAGCGCA	0.617																																					p.S556S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1668A	3						.						107.0	120.0	116.0					3																	42704550		2182	4286	6468	42679554	SO:0001819	synonymous_variant	92999	exon4			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1668C>A	3.37:g.42704550C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42679554	NM_145166	H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	CCDS46805.2																																																																																				0.617	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166	
HHATL	57467	broad.mit.edu	37	3	42739081	42739081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42739081C>T	ENST00000441594.1	-	7	1045	c.784G>A	c.(784-786)Gac>Aac	p.D262N	HHATL_ENST00000310417.5_Missense_Mutation_p.D262N	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	262					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.D262N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AAGAAGATGTCGACGGCCATG	0.607																																					p.D262N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	3						.						128.0	120.0	123.0					3																	42739081		2203	4300	6503	42714085	SO:0001583	missense	57467	exon7			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.784G>A	3.37:g.42739081C>T	ENSP00000405423:p.Asp262Asn	Somatic		Capture	Illumina HiSeq	Phase_I	42714085	NM_020707	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770312	0.69992	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	D;D;D	0.88664	-2.41;-2.41;-2.41	4.85	4.85	0.62838	.	0.088364	0.85682	D	0.000000	D	0.93504	0.7927	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	P	0.62089	0.898	D	0.94090	0.7352	10	0.66056	D	0.02	-30.5142	17.7468	0.88423	0.0:1.0:0.0:0.0	.	262	Q9HCP6	HHATL_HUMAN	N	262;262;171;197	ENSP00000310621:D262N;ENSP00000405423:D262N;ENSP00000403787:D197N	ENSP00000310621:D262N	D	-	1	0	HHATL	42714085	1.000000	0.71417	0.811000	0.32455	0.024000	0.10985	5.625000	0.67770	2.531000	0.85337	0.558000	0.71614	GAC		0.607	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	
CYP8B1	1582	broad.mit.edu	37	3	42915953	42915953	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42915953G>T	ENST00000316161.4	-	1	1680	c.1356C>A	c.(1354-1356)ctC>ctA	p.L452L	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	452					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.L452L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCAGGATAAAGAGCTTCACCT	0.542																																					p.L452L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1356A	3						.						105.0	93.0	97.0					3																	42915953		2203	4300	6503	42890957	SO:0001819	synonymous_variant	1582	exon1			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1356C>A	3.37:g.42915953G>T		Somatic		Capture	Illumina HiSeq	Phase_I	42890957	NM_004391	B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	ENST00000316161.4	37	CCDS2707.1																																																																																				0.542	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391	
ZNF662	389114	broad.mit.edu	37	3	42955845	42955845	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42955845G>T	ENST00000541208.1	+	5	649	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.D94Y|ZNF662_ENST00000328199.6_Missense_Mutation_p.D120Y			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D94Y(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GAAGAAAGAAGATTTTATTCT	0.423																																					p.D120Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358T	3						.						71.0	75.0	73.0					3																	42955845		2202	4300	6502	42930849	SO:0001583	missense	389114	exon4			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.280G>T	3.37:g.42955845G>T	ENSP00000446208:p.Asp94Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42930849	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	7.245	0.602041	0.13939	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.52983	0.64;0.64;0.64	2.93	0.99	0.19807	.	.	.	.	.	T	0.35740	0.0942	L	0.36672	1.1	0.21675	N	0.999592	B;B	0.21520	0.057;0.034	B;B	0.16289	0.015;0.007	T	0.28586	-1.0039	9	0.62326	D	0.03	.	8.7695	0.34724	0.0:0.4594:0.5406:0.0	.	120;94	F8W7S8;Q6ZS27	.;ZN662_HUMAN	Y	94;120;94	ENSP00000405047:D94Y;ENSP00000329264:D120Y;ENSP00000446208:D94Y	ENSP00000329264:D120Y	D	+	1	0	ZNF662	42930849	0.993000	0.37304	0.541000	0.28102	0.086000	0.17979	1.494000	0.35616	0.101000	0.17610	-0.315000	0.08773	GAT		0.423	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
ZNF662	389114	broad.mit.edu	37	3	42956274	42956274	+	Missense_Mutation	SNP	G	G	A	rs183257175	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42956274G>A	ENST00000541208.1	+	5	1078	c.709G>A	c.(709-711)Gca>Aca	p.A237T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.A237T|ZNF662_ENST00000328199.6_Missense_Mutation_p.A263T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A237T(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACATTGCATTGCACATCAGAG	0.413													G|||	3	0.000599042	0.0	0.0	5008	,	,		21277	0.003		0.0	False		,,,				2504	0.0				p.A263T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	3						.						105.0	105.0	105.0					3																	42956274		2203	4300	6503	42931278	SO:0001583	missense	389114	exon4			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.709G>A	3.37:g.42956274G>A	ENSP00000446208:p.Ala237Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42931278	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	CCDS2708.1	5	0.0022893772893772895	0	0.0	0	0.0	4	0.006993006993006993	1	0.0013192612137203166	G	9.753	1.167875	0.21621	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07688	3.17;3.17;3.17	3.59	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.11789	0.175	0.09310	N	1	B;B	0.31705	0.336;0.254	B;B	0.29862	0.094;0.108	T	0.40961	-0.9535	9	0.25751	T	0.34	.	7.5213	0.27629	0.0:0.1773:0.6422:0.1806	.	263;237	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	237;263;237	ENSP00000405047:A237T;ENSP00000329264:A263T;ENSP00000446208:A237T	ENSP00000329264:A263T	A	+	1	0	ZNF662	42931278	0.000000	0.05858	1.000000	0.80357	0.746000	0.42486	-1.073000	0.03430	1.860000	0.53959	0.555000	0.69702	GCA		0.413	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
ZNF662	389114	broad.mit.edu	37	3	42956704	42956704	+	Missense_Mutation	SNP	G	G	A	rs377755545		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:42956704G>A	ENST00000541208.1	+	5	1508	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.R380K|ZNF662_ENST00000328199.6_Missense_Mutation_p.R406K			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R380K(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGACATCAAAGAATCCATACT	0.463																																					p.R406K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A	3						.						75.0	75.0	75.0					3																	42956704		2203	4300	6503	42931708	SO:0001583	missense	389114	exon4			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1139G>A	3.37:g.42956704G>A	ENSP00000446208:p.Arg380Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42931708	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392819	0.62066	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.18338	2.22;2.22;2.22	3.27	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19886	0.0478	N	0.04705	-0.18	0.37089	D	0.899362	D;D	0.61080	0.987;0.989	D;D	0.76071	0.978;0.987	T	0.34279	-0.9835	9	0.49607	T	0.09	.	12.4046	0.55432	0.0:0.0:1.0:0.0	.	406;380	F8W7S8;Q6ZS27	.;ZN662_HUMAN	K	380;406;380	ENSP00000405047:R380K;ENSP00000329264:R406K;ENSP00000446208:R380K	ENSP00000329264:R406K	R	+	2	0	ZNF662	42931708	0.155000	0.22806	1.000000	0.80357	0.995000	0.86356	2.154000	0.42291	1.852000	0.53769	0.650000	0.86243	AGA		0.463	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
SNRK	54861	broad.mit.edu	37	3	43345160	43345160	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:43345160G>A	ENST00000296088.7	+	3	769	c.465G>A	c.(463-465)aaG>aaA	p.K155K	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Silent_p.K155K|SNRK_ENST00000429705.2_Silent_p.K155K|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase									p.K155K(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTCTTGTAAAGTTGACAGACT	0.398																																					p.K155K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G465A	3						.						104.0	100.0	101.0					3																	43345160		1860	4104	5964	43320164	SO:0001819	synonymous_variant	54861	exon3			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.465G>A	3.37:g.43345160G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43320164	NM_017719		Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																				0.398	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
ANO10	55129	broad.mit.edu	37	3	43602722	43602722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:43602722C>T	ENST00000292246.3	-	9	1636	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	ANO10_ENST00000451430.2_Missense_Mutation_p.G378E|ANO10_ENST00000414522.2_Missense_Mutation_p.G489E|ANO10_ENST00000350459.4_Missense_Mutation_p.G299E|ANO10_ENST00000396091.3_Missense_Mutation_p.G423E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	489					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.G489E(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAAATAAGTTCCCATTTCTTT	0.378																																					p.G489E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	3						.						134.0	132.0	133.0					3																	43602722		2203	4300	6503	43577726	SO:0001583	missense	55129	exon9			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1466G>A	3.37:g.43602722C>T	ENSP00000292246:p.Gly489Glu	Somatic		Capture	Illumina HiSeq	Phase_I	43577726	NM_018075	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222666	0.09863	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.51	2.7	0.31948	.	0.232564	0.51477	N	0.000083	T	0.35038	0.0918	L	0.31804	0.96	0.33273	D	0.561226	B;B;B;B;B	0.20052	0.007;0.004;0.041;0.004;0.008	B;B;B;B;B	0.24541	0.01;0.012;0.054;0.01;0.012	T	0.37009	-0.9724	10	0.02654	T	1	.	4.7784	0.13190	0.1402:0.5744:0.0:0.2854	.	378;489;299;423;489	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;.;ANO10_HUMAN	E	489;299;423;489;378	ENSP00000292246:G489E;ENSP00000327767:G299E;ENSP00000379398:G423E;ENSP00000396990:G489E;ENSP00000394119:G378E	ENSP00000292246:G489E	G	-	2	0	ANO10	43577726	0.067000	0.21026	0.572000	0.28498	0.973000	0.67179	0.492000	0.22435	0.358000	0.24211	0.557000	0.71058	GGA		0.378	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075	
TCAIM	285343	broad.mit.edu	37	3	44403014	44403014	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44403014C>T	ENST00000342649.4	+	4	746				TCAIM_ENST00000417237.1_Intron	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial							mitochondrion (GO:0005739)		p.?(1)									ACTTCCGGTACGTTTTTTATT	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						53.0	52.0	52.0					3																	44403014		2203	4300	6503	44378018	SO:0001627	intron_variant	285343	.				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.319+4C>T	3.37:g.44403014C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44378018	.	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Intron	SNP	ENST00000342649.4	37	CCDS2712.1																																																																																				0.388	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
TCAIM	285343	broad.mit.edu	37	3	44441862	44441862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44441862C>T	ENST00000342649.4	+	9	1328	c.901C>T	c.(901-903)Cca>Tca	p.P301S	TCAIM_ENST00000417237.1_Missense_Mutation_p.P301S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	301						mitochondrion (GO:0005739)		p.P301S(1)									TGAAAGATTGCCAAGTTATTT	0.294																																					p.P301S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C901T	3						.						77.0	79.0	78.0					3																	44441862		2203	4299	6502	44416866	SO:0001583	missense	285343	exon9				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.901C>T	3.37:g.44441862C>T	ENSP00000341539:p.Pro301Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44416866	NM_173826	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389742	0.82902	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	.	0.050857	0.85682	D	0.000000	T	0.51058	0.1652	L	0.49455	1.56	0.80722	D	1	D	0.56521	0.976	P	0.52424	0.698	T	0.28870	-1.0030	10	0.21540	T	0.41	.	19.9173	0.97066	0.0:1.0:0.0:0.0	.	301	Q8N3R3	CC023_HUMAN	S	301	ENSP00000402581:P301S;ENSP00000341539:P301S	ENSP00000341539:P301S	P	+	1	0	C3orf23	44416866	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.280000	0.72626	2.707000	0.92482	0.563000	0.77884	CCA		0.294	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
ZNF445	353274	broad.mit.edu	37	3	44491989	44491989	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44491989T>C	ENST00000396077.2	-	6	1117	c.770A>G	c.(769-771)aAc>aGc	p.N257S	ZNF445_ENST00000425708.2_Missense_Mutation_p.N257S	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	257	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N257S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTGTACAGGTTCCTCTGAGC	0.488																																					p.N257S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A770G	3						.						136.0	118.0	124.0					3																	44491989		2203	4300	6503	44466993	SO:0001583	missense	353274	exon6			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.770A>G	3.37:g.44491989T>C	ENSP00000379387:p.Asn257Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44466993	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671005	0.29693	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.01854	4.6;4.6	3.82	3.82	0.43975	Krueppel-associated box (4);	0.000000	0.53938	D	0.000052	T	0.02571	0.0078	N	0.12637	0.245	0.34379	D	0.692843	P;P	0.48089	0.649;0.905	B;P	0.51999	0.378;0.687	T	0.62238	-0.6896	10	0.19147	T	0.46	.	11.1786	0.48614	0.0:0.0:0.0:1.0	.	245;257	B7ZKX2;P59923	.;ZN445_HUMAN	S	257;257;250;255	ENSP00000413073:N257S;ENSP00000379387:N257S	ENSP00000342436:N250S	N	-	2	0	ZNF445	44466993	0.026000	0.19158	1.000000	0.80357	0.884000	0.51177	0.297000	0.19101	1.970000	0.57323	0.402000	0.26972	AAC		0.488	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZKSCAN7	55888	broad.mit.edu	37	3	44612697	44612697	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44612697G>A	ENST00000273320.3	+	6	2524	c.2095G>A	c.(2095-2097)Gct>Act	p.A699T	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A699T|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	699					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)	p.A699T(1)									TTGTGGGAAAGCTTTTAGTGA	0.433																																					p.A699T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2095A	3						.						127.0	130.0	129.0					3																	44612697		2203	4300	6503	44587701	SO:0001583	missense	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2095G>A	3.37:g.44612697G>A	ENSP00000273320:p.Ala699Thr	Somatic		Capture	Illumina HiSeq	Phase_I	44587701	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	9.791	1.177882	0.21787	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.36157	1.27;1.27	4.2	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.260464	0.20294	N	0.095175	T	0.18215	0.0437	N	0.03281	-0.365	0.09310	N	0.999999	B	0.30068	0.267	B	0.34385	0.181	T	0.21484	-1.0244	10	0.34782	T	0.22	-2.714	11.2076	0.48780	0.0:0.0:0.3857:0.6143	.	699	Q9P0L1	ZN167_HUMAN	T	699;699;137	ENSP00000395524:A699T;ENSP00000273320:A699T	ENSP00000273320:A699T	A	+	1	0	ZNF167	44587701	0.000000	0.05858	0.896000	0.35187	0.980000	0.70556	-0.613000	0.05610	0.382000	0.24878	0.655000	0.94253	GCT		0.433	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZNF197	10168	broad.mit.edu	37	3	44673637	44673637	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44673637G>T	ENST00000396058.1	+	3	758	c.591G>T	c.(589-591)gaG>gaT	p.E197D	ZNF197_ENST00000383744.4_Missense_Mutation_p.E197D|ZNF197_ENST00000383745.2_Missense_Mutation_p.E197D|ZNF197_ENST00000344387.4_Missense_Mutation_p.E197D|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	197					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)	p.E197D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCCAGGAAGAGAACCCAAGAA	0.502																																					p.E197D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G591T	3						.						222.0	223.0	222.0					3																	44673637		2203	4300	6503	44648641	SO:0001583	missense	10168	exon4			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.591G>T	3.37:g.44673637G>T	ENSP00000379370:p.Glu197Asp	Somatic		Capture	Illumina HiSeq	Phase_I	44648641	NM_001024855	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660327	0.47572	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.06768	5.55;3.26;5.55;3.26	5.55	-2.29	0.06805	.	0.000000	0.39210	N	0.001435	T	0.09555	0.0235	N	0.24115	0.695	0.22500	N	0.999047	B;D	0.58268	0.282;0.982	B;D	0.67548	0.043;0.952	T	0.29427	-1.0012	10	0.21540	T	0.41	.	5.9956	0.19491	0.5297:0.1429:0.3273:0.0	.	197;197	Q86VG0;O14709	.;ZN197_HUMAN	D	197	ENSP00000373250:E197D;ENSP00000345809:E197D;ENSP00000373251:E197D;ENSP00000379370:E197D	ENSP00000345809:E197D	E	+	3	2	ZNF197	44648641	0.999000	0.42202	0.995000	0.50966	0.996000	0.88848	0.159000	0.16442	-0.117000	0.11872	0.591000	0.81541	GAG		0.502	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ZNF502	91392	broad.mit.edu	37	3	44762917	44762917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44762917G>T	ENST00000296091.4	+	4	864	c.608G>T	c.(607-609)aGa>aTa	p.R203I	ZNF502_ENST00000436624.2_Missense_Mutation_p.R203I|ZNF502_ENST00000449836.1_Missense_Mutation_p.R203I	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R203I(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAACATCAAAGAATTCACACT	0.423																																					p.R203I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608T	3						.						165.0	172.0	170.0					3																	44762917		2203	4300	6503	44737921	SO:0001583	missense	91392	exon3			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.608G>T	3.37:g.44762917G>T	ENSP00000296091:p.Arg203Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44737921	NM_001134442		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214151	0.58452	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.24908	1.83;1.83;1.83	4.79	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	L	0.56280	1.765	0.09310	N	0.999999	P	0.44521	0.837	B	0.32980	0.156	T	0.18429	-1.0337	9	0.59425	D	0.04	-16.0938	8.0029	0.30308	0.0862:0.1636:0.7502:0.0	.	203	Q8TBZ5	ZN502_HUMAN	I	203	ENSP00000397390:R203I;ENSP00000296091:R203I;ENSP00000406469:R203I	ENSP00000296091:R203I	R	+	2	0	ZNF502	44737921	0.002000	0.14202	0.014000	0.15608	0.995000	0.86356	1.181000	0.32017	1.363000	0.46019	0.655000	0.94253	AGA		0.423	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
ZNF502	91392	broad.mit.edu	37	3	44763638	44763638	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44763638C>T	ENST00000296091.4	+	4	1585	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	ZNF502_ENST00000436624.2_Silent_p.G443G|ZNF502_ENST00000449836.1_Silent_p.G443G	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G443G(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GTGGAAAGGGCTTTAATCAGA	0.418																																					p.G443G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1329T	3						.						86.0	91.0	89.0					3																	44763638		2203	4300	6503	44738642	SO:0001819	synonymous_variant	91392	exon3			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1329C>T	3.37:g.44763638C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44738642	NM_001134442		Silent	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723632	0.15439	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.42	-0.821	0.10822	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49716	-0.8910	5	0.62326	D	0.03	-0.3886	0.8443	0.01157	0.1619:0.2467:0.3199:0.2714	.	.	.	.	V	443	.	ENSP00000397812:A443V	A	+	2	0	ZNF502	44738642	0.000000	0.05858	0.930000	0.37139	0.995000	0.86356	-2.840000	0.00738	-0.047000	0.13423	-0.140000	0.14226	GCT		0.418	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
KIF15	56992	broad.mit.edu	37	3	44867860	44867860	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:44867860C>A	ENST00000326047.4	+	22	2849				KIF15_ENST00000425755.1_Intron	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAATGTTGTCTTTTAGAATT	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						74.0	78.0	77.0					3																	44867860		2203	4299	6502	44842864	SO:0001627	intron_variant	56992	.			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2701-7C>A	3.37:g.44867860C>A		Somatic		Capture	Illumina HiSeq	Phase_I	44842864	.	Q17RV9|Q69YL6|Q96JX7|Q9H280	Intron	SNP	ENST00000326047.4	37	CCDS33744.1																																																																																				0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
SACM1L	22908	broad.mit.edu	37	3	45772785	45772785	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:45772785T>G	ENST00000389061.5	+	12	1125				SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_Intron	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTTTGAAATTTTTTACAGATT	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						46.0	47.0	47.0					3																	45772785		2202	4300	6502	45747789	SO:0001627	intron_variant	22908	.			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.922-8T>G	3.37:g.45772785T>G		Somatic		Capture	Illumina HiSeq	Phase_I	45747789	.	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Intron	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.413	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
LZTFL1	54585	broad.mit.edu	37	3	45868915	45868915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:45868915G>A	ENST00000296135.6	-	9	988	c.814C>T	c.(814-816)Cga>Tga	p.R272*	LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.R255*|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	272	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)	p.R272*(1)		endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTCATGTTTCGATAAGCTGCT	0.368																																					p.R272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C814T	3						.						265.0	248.0	254.0					3																	45868915		2203	4300	6503	45843919	SO:0001587	stop_gained	54585	exon9			AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.814C>T	3.37:g.45868915G>A	ENSP00000296135:p.Arg272*	Somatic		Capture	Illumina HiSeq	Phase_I	45843919	NM_020347	B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Nonsense_Mutation	SNP	ENST00000296135.6	37	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.871376|10.871376	0.99481|0.99481	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000296135;ENST00000536047|ENST00000440576	.|.	.|.	.|.	5.38|5.38	3.55|3.55	0.40652|0.40652	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.61248	.|0.2332	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56914	.|-0.7900	.|4	0.02654|.	T|.	1|.	-2.4833|-2.4833	10.4997|10.4997	0.44798|0.44798	0.0697:0.0:0.7966:0.1337|0.0697:0.0:0.7966:0.1337	.|.	.|.	.|.	.|.	X|L	272;255|207	.|.	ENSP00000296135:R272X|.	R|S	-|-	1|2	2|0	LZTFL1|LZTFL1	45843919|45843919	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.993000|0.993000	0.82548|0.82548	7.522000|7.522000	0.81844|0.81844	0.724000|0.724000	0.32296|0.32296	0.563000|0.563000	0.77884|0.77884	CGA|TCG		0.368	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	
CCR9	10803	broad.mit.edu	37	3	45943279	45943279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:45943279G>T	ENST00000357632.2	+	3	1179	c.999G>T	c.(997-999)aaG>aaT	p.K333N	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.K321N|CCR9_ENST00000355983.2_Missense_Mutation_p.K321N|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	333					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.K333N(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AAACCCTGAAGAACTTGGGTT	0.522																																					p.K321N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G963T	3						.						83.0	80.0	81.0					3																	45943279		2203	4300	6503	45918283	SO:0001583	missense	10803	exon2			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.999G>T	3.37:g.45943279G>T	ENSP00000350256:p.Lys333Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45918283	NM_006641	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358379	0.41801	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38560	1.13;1.13;1.13	4.96	4.96	0.65561	.	0.282570	0.33438	N	0.004908	T	0.44993	0.1320	L	0.54323	1.7	0.37894	D	0.930805	P	0.41475	0.751	P	0.47346	0.544	T	0.54132	-0.8339	10	0.87932	D	0	.	8.5895	0.33679	0.2167:0.0:0.7833:0.0	.	333	P51686	CCR9_HUMAN	N	333;321;321	ENSP00000350256:K333N;ENSP00000379292:K321N;ENSP00000348260:K321N	ENSP00000348260:K321N	K	+	3	2	CCR9	45918283	0.994000	0.37717	0.989000	0.46669	0.976000	0.68499	2.251000	0.43187	2.289000	0.77006	0.563000	0.77884	AAG		0.522	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
CCR9	10803	broad.mit.edu	37	3	45943340	45943340	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:45943340A>C	ENST00000357632.2	+	3	1240	c.1060A>C	c.(1060-1062)Aag>Cag	p.K354Q	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.K342Q|CCR9_ENST00000355983.2_Missense_Mutation_p.K342Q|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	354					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.K354Q(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGAAGCTTGAAGCTGTCGTC	0.512																																					p.K342Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1024C	3						.						66.0	64.0	65.0					3																	45943340		2203	4300	6503	45918344	SO:0001583	missense	10803	exon2			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.1060A>C	3.37:g.45943340A>C	ENSP00000350256:p.Lys354Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45918344	NM_006641	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232367	0.39498	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.69306	-0.39;-0.38;-0.38	4.84	3.7	0.42460	.	3.301060	0.00659	N	0.000599	T	0.50326	0.1609	N	0.03608	-0.345	0.32452	N	0.545216	D	0.53462	0.96	P	0.45946	0.498	T	0.56232	-0.8013	10	0.30854	T	0.27	.	7.8312	0.29344	0.9061:0.0:0.0939:0.0	.	354	P51686	CCR9_HUMAN	Q	354;342;342	ENSP00000350256:K354Q;ENSP00000379292:K342Q;ENSP00000348260:K342Q	ENSP00000348260:K342Q	K	+	1	0	CCR9	45918344	0.126000	0.22350	1.000000	0.80357	0.809000	0.45718	1.822000	0.39052	1.810000	0.52873	0.460000	0.39030	AAG		0.512	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
FYCO1	79443	broad.mit.edu	37	3	45996856	45996856	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:45996856C>T	ENST00000296137.2	-	14	4034	c.3829G>A	c.(3829-3831)Gac>Aac	p.D1277N	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.D1277N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1277					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.D1277N(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AACACAGCGTCGTCCGGTGGC	0.522																																					p.D1277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3829A	3						.						146.0	147.0	147.0					3																	45996856		2203	4300	6503	45971860	SO:0001583	missense	79443	exon14			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3829G>A	3.37:g.45996856C>T	ENSP00000296137:p.Asp1277Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45971860	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270774	0.95429	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.33654	1.52;1.4	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	M	0.74258	2.255	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.64385	-0.6420	10	0.87932	D	0	-25.5633	18.4886	0.90838	0.0:1.0:0.0:0.0	.	1277;1277	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	1277	ENSP00000296137:D1277N;ENSP00000441178:D1277N	ENSP00000296137:D1277N	D	-	1	0	FYCO1	45971860	1.000000	0.71417	0.244000	0.24202	0.799000	0.45148	6.589000	0.74080	2.795000	0.96236	0.655000	0.94253	GAC		0.522	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
CCR3	1232	broad.mit.edu	37	3	46307159	46307159	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:46307159C>A	ENST00000357422.2	+	4	1053	c.510C>A	c.(508-510)atC>atA	p.I170I	CCR3_ENST00000541018.1_Silent_p.I170I|CCR3_ENST00000395942.2_Silent_p.I170I|CCR3_ENST00000545097.1_Silent_p.I191I|CCR3_ENST00000395940.2_Silent_p.I170I			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	170					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.I170I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGAATTTATCTTCTATGAGA	0.483																																					p.I191I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573A	3						.						71.0	74.0	73.0					3																	46307159		2203	4300	6503	46282163	SO:0001819	synonymous_variant	1232	exon3			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.510C>A	3.37:g.46307159C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46282163	NM_178328	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	CCDS2738.1																																																																																				0.483	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2		
SETD2	29072	broad.mit.edu	37	3	47163426	47163426	+	Silent	SNP	G	G	A	rs370480746		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:47163426G>A	ENST00000409792.3	-	3	2742	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	900					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.C397C(1)|p.C900C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTTCTCTCCGCATTTCAAGA	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.C900C			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2700T	3						.	G		0,4406		0,0,2203	102.0	106.0	104.0		2700	1.3	1.0	3		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SETD2	NM_014159.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		900/2565	47163426	1,13005	2203	4300	6503	47138430	SO:0001819	synonymous_variant	29072	exon3			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2700C>T	3.37:g.47163426G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47138430	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
PTPN23	25930	broad.mit.edu	37	3	47446173	47446173	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:47446173G>A	ENST00000265562.4	+	3	268	c.191G>A	c.(190-192)gGc>gAc	p.G64D	PTPN23_ENST00000431726.1_Intron	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	64	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.G64D(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACTTTGAGGGCTGTAGTGTC	0.622																																					p.G64D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	3						.						89.0	77.0	81.0					3																	47446173		2203	4300	6503	47421177	SO:0001583	missense	25930	exon3			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.191G>A	3.37:g.47446173G>A	ENSP00000265562:p.Gly64Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47421177	NM_015466	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657628	0.96734	.	.	ENSG00000076201	ENST00000456221;ENST00000456408;ENST00000265562	T;T	0.21191	2.02;2.02	5.95	5.95	0.96441	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67635	-0.5620	10	0.87932	D	0	-31.4462	19.1568	0.93514	0.0:0.0:1.0:0.0	.	64	Q9H3S7	PTN23_HUMAN	D	39;39;64	ENSP00000396328:G39D;ENSP00000265562:G64D	ENSP00000265562:G64D	G	+	2	0	PTPN23	47421177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.739000	0.98837	2.825000	0.97269	0.655000	0.94253	GGC		0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
SMARCC1	6599	broad.mit.edu	37	3	47779508	47779508	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:47779508T>G	ENST00000254480.5	-	4	603				SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TAACCTAAGTTTCCAAGTTAC	0.398																																					.												.	.	0			.	3						.						44.0	43.0	43.0					3																	47779508		2203	4300	6503	47754512	SO:0001627	intron_variant	6599	.			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.483+10A>C	3.37:g.47779508T>G		Somatic		Capture	Illumina HiSeq	Phase_I	47754512	.	Q17RS0|Q6P172|Q8IWH2	Intron	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																				0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
MAP4	4134	broad.mit.edu	37	3	47958186	47958186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:47958186C>A	ENST00000360240.6	-	7	1649	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N	MAP4_ENST00000395734.3_Missense_Mutation_p.K377N|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.K394N	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	377	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.K377N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTGTTTCTTTCTTGTTTTCTT	0.463																																					p.K377N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1131T	3						.						157.0	159.0	159.0					3																	47958186		2203	4300	6503	47933190	SO:0001583	missense	4134	exon7				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1131G>T	3.37:g.47958186C>A	ENSP00000353375:p.Lys377Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47933190	NM_001134364	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074696	0.20227	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.07567	3.24;3.18;3.22	0.899	-0.244	0.13031	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;P;P	0.39809	0.027;0.689;0.563	B;B;B	0.28916	0.001;0.096;0.044	T	0.40979	-0.9534	9	0.42905	T	0.14	.	4.8662	0.13609	0.0:0.7181:0.0:0.2819	.	354;377;377	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	N	377;394;377	ENSP00000379083:K377N;ENSP00000407602:K394N;ENSP00000353375:K377N	ENSP00000353375:K377N	K	-	3	2	MAP4	47933190	0.001000	0.12720	0.013000	0.15412	0.259000	0.26198	-0.063000	0.11655	0.426000	0.26116	0.089000	0.15464	AAG		0.463	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	
CDC25A	993	broad.mit.edu	37	3	48219462	48219462	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48219462C>A	ENST00000302506.3	-	7	974	c.566G>T	c.(565-567)aGa>aTa	p.R189I	CDC25A_ENST00000351231.3_Missense_Mutation_p.R149I|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	189					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R189I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACTGCTATCTCTTTCATTTGA	0.408																																					p.R189I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566T	3						.						116.0	123.0	120.0					3																	48219462		2203	4300	6503	48194466	SO:0001583	missense	993	exon7			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.566G>T	3.37:g.48219462C>A	ENSP00000303706:p.Arg189Ile	Somatic		Capture	Illumina HiSeq	Phase_I	48194466	NM_001789	Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814593	0.50527	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.25250	1.81;1.81;1.81	5.88	2.79	0.32731	.	0.504809	0.22351	N	0.061208	T	0.21761	0.0524	L	0.46157	1.445	0.45194	D	0.998204	B;P	0.45348	0.187;0.856	B;B	0.43575	0.203;0.424	T	0.02064	-1.1220	10	0.39692	T	0.17	.	5.7267	0.18017	0.0:0.6412:0.0:0.3588	.	149;189	P30304-2;P30304	.;MPIP1_HUMAN	I	189;149;188	ENSP00000303706:R189I;ENSP00000343166:R149I;ENSP00000416483:R188I	ENSP00000303706:R189I	R	-	2	0	CDC25A	48194466	0.243000	0.23878	0.996000	0.52242	0.473000	0.32948	0.113000	0.15499	0.842000	0.35045	-0.142000	0.14014	AGA		0.408	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789	
COL7A1	1294	broad.mit.edu	37	3	48623501	48623501	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48623501C>T	ENST00000328333.8	-	27	3831				COL7A1_ENST00000454817.1_Intron	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCCTCTTCCAAACCTGAG	0.577																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						86.0	95.0	92.0					3																	48623501		2203	4300	6503	48598505	SO:0001627	intron_variant	1294	.			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3723+5G>A	3.37:g.48623501C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48598505	.	Q14054|Q16507	Intron	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
COL7A1	1294	broad.mit.edu	37	3	48627903	48627903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48627903C>T	ENST00000328333.8	-	14	2002	c.1895G>A	c.(1894-1896)aGc>aAc	p.S632N	COL7A1_ENST00000454817.1_Missense_Mutation_p.S632N	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	632	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S632N(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGCCTGTGCTCCAGCTAAT	0.622																																					p.S632N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1895A	3						.						93.0	87.0	89.0					3																	48627903		2203	4300	6503	48602907	SO:0001583	missense	1294	exon14			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1895G>A	3.37:g.48627903C>T	ENSP00000332371:p.Ser632Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48602907	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206807	0.39003	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.58506	0.33;0.33	4.91	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.280214	0.23731	N	0.045134	T	0.39517	0.1081	N	0.14661	0.345	0.23386	N	0.997789	B	0.14012	0.009	B	0.18561	0.022	T	0.34329	-0.9833	10	0.51188	T	0.08	.	10.6311	0.45536	0.0:0.9104:0.0:0.0896	.	632	Q02388	CO7A1_HUMAN	N	632	ENSP00000332371:S632N;ENSP00000412569:S632N	ENSP00000332371:S632N	S	-	2	0	COL7A1	48602907	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.832000	0.48152	1.462000	0.47948	0.650000	0.86243	AGC		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
COL7A1	1294	broad.mit.edu	37	3	48631834	48631834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48631834C>T	ENST00000328333.8	-	2	340	c.233G>A	c.(232-234)cGc>cAc	p.R78H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R78H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	78	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R78H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGCAAAGCGCACACCCTG	0.632																																					p.R78H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	3						.						70.0	69.0	69.0					3																	48631834		2203	4300	6503	48606838	SO:0001583	missense	1294	exon2			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.233G>A	3.37:g.48631834C>T	ENSP00000332371:p.Arg78His	Somatic		Capture	Illumina HiSeq	Phase_I	48606838	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046162	0.55110	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86164	-2.08;-2.08	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45126	D	0.000384	D	0.84474	0.5480	L	0.53249	1.67	0.40366	D	0.979291	P	0.49307	0.922	B	0.39904	0.313	D	0.87814	0.2633	10	0.72032	D	0.01	.	16.2525	0.82494	0.0:1.0:0.0:0.0	.	78	Q02388	CO7A1_HUMAN	H	78	ENSP00000332371:R78H;ENSP00000412569:R78H	ENSP00000332371:R78H	R	-	2	0	COL7A1	48606838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.566000	0.60843	2.425000	0.82216	0.555000	0.69702	CGC		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
CELSR3	1951	broad.mit.edu	37	3	48688788	48688788	+	Intron	SNP	G	G	A	rs200641812		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48688788G>A	ENST00000164024.4	-	14	6467				CELSR3_ENST00000544264.1_Intron	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGGCCAGGCGCACCTTGCAG	0.562													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22633	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.			1,4405	2.1+/-5.4	0,1,2202	155.0	140.0	145.0			-5.9	0.3	3		145	0,8600		0,0,4300	no	intron	CELSR3	NM_001407.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			48688788	1,13005	2203	4300	6503	48663792	SO:0001627	intron_variant	1951	.			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6186+3C>T	3.37:g.48688788G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48663792	.	O75092	Intron	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
CELSR3	1951	broad.mit.edu	37	3	48696659	48696659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48696659C>A	ENST00000164024.4	-	1	3689	c.3409G>T	c.(3409-3411)Gaa>Taa	p.E1137*	CELSR3_ENST00000544264.1_Nonsense_Mutation_p.E1137*	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1137	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E1137*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCACATATTCTTGGCGAGCC	0.542																																					p.E1137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3409T	3						.						99.0	92.0	95.0					3																	48696659		2203	4300	6503	48671663	SO:0001587	stop_gained	1951	exon1			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3409G>T	3.37:g.48696659C>A	ENSP00000164024:p.Glu1137*	Somatic		Capture	Illumina HiSeq	Phase_I	48671663	NM_001407	O75092	Nonsense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	43	10.230953	0.99365	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.6736	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	1137	.	ENSP00000164024:E1137X	E	-	1	0	CELSR3	48671663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.999000	0.70665	2.664000	0.90586	0.561000	0.74099	GAA		0.542	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
PRKAR2A	5576	broad.mit.edu	37	3	48789132	48789132	+	Silent	SNP	G	G	A	rs150452598	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:48789132G>A	ENST00000265563.8	-	11	1350	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PRKAR2A_ENST00000454963.1_Silent_p.F367F|PRKAR2A_ENST00000296446.8_Silent_p.F345F	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	367					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.F367F(1)	SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GAAGCCTCTCGAATGCTTGTA	0.463													G|||	9	0.00179712	0.0068	0.0	5008	,	,		21737	0.0		0.0	False		,,,				2504	0.0				p.F367F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	3						.			16,4390	24.3+/-50.5	0,16,2187	68.0	59.0	62.0		1101	-4.6	0.9	3	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	PRKAR2A	NM_004157.2		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		367/405	48789132	16,12990	2203	4300	6503	48764136	SO:0001819	synonymous_variant	5576	exon11				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1101C>T	3.37:g.48789132G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48764136	NM_004157	Q16823|Q9BUB1	Silent	SNP	ENST00000265563.8	37	CCDS2778.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	14.46	2.542256	0.45280	0.003631	0.0	ENSG00000114302	ENST00000457914	.	.	.	6.07	-4.55	0.03441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6937	12.8919	0.58076	0.5439:0.0:0.4561:0.0	.	.	.	.	X	55	.	.	R	-	1	2	PRKAR2A	48764136	0.999000	0.42202	0.894000	0.35097	0.938000	0.57974	0.893000	0.28336	-0.993000	0.03467	-1.121000	0.02013	CGA		0.463	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1		
QRICH1	54870	broad.mit.edu	37	3	49081934	49081934	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49081934G>T	ENST00000395443.2	-	6	2147	c.1675C>A	c.(1675-1677)Ctt>Att	p.L559I	QRICH1_ENST00000424300.1_Missense_Mutation_p.L559I|QRICH1_ENST00000357496.2_Missense_Mutation_p.L559I|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	559						nucleus (GO:0005634)		p.L559I(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTTCAAAAAGATACTAAAAG	0.368																																					p.L559I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1675A	3						.						59.0	61.0	61.0					3																	49081934		2203	4300	6503	49056938	SO:0001583	missense	54870	exon6				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1675C>A	3.37:g.49081934G>T	ENSP00000378830:p.Leu559Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49056938	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582100	0.86748	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.56	5.56	0.83823	.	0.112625	0.64402	D	0.000008	T	0.61652	0.2364	M	0.72479	2.2	0.80722	D	1	P	0.47034	0.889	B	0.40940	0.344	T	0.69331	-0.5173	9	0.87932	D	0	-2.4336	19.4959	0.95072	0.0:0.0:1.0:0.0	.	559	Q2TAL8	QRIC1_HUMAN	I	559	.	ENSP00000350094:L559I	L	-	1	0	QRICH1	49056938	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.508000	0.53378	2.618000	0.88619	0.491000	0.48974	CTT		0.368	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
USP19	10869	broad.mit.edu	37	3	49151717	49151717	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49151717C>T	ENST00000398888.2	-	15	2302	c.1984G>A	c.(1984-1986)Gtc>Atc	p.V662I	USP19_ENST00000417901.1_Splice_Site_p.V765I|USP19_ENST00000453664.1_Splice_Site_p.V753I|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Splice_Site_p.V702I|USP19_ENST00000434032.2_Splice_Site_p.V763I|USP19_ENST00000398896.1_Splice_Site_p.V470I|USP19_ENST00000398898.2_Splice_Site_p.V702I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	662	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.V750I(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGATGGAGACCTGTGGATGT	0.532																																					p.V753I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2257A	3						.						57.0	62.0	61.0					3																	49151717		1988	4175	6163	49126721	SO:0001630	splice_region_variant	10869	exon16			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1984-1G>A	3.37:g.49151717C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49126721	NM_001199162	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971649	0.74246	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	6.17	5.27	0.74061	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053888	0.64402	D	0.000001	T	0.25865	0.0630	L	0.39566	1.225	0.58432	D	0.999999	P;B;B;B;B	0.38195	0.622;0.366;0.209;0.07;0.209	B;B;B;B;B	0.32624	0.149;0.149;0.111;0.075;0.102	T	0.02282	-1.1183	10	0.29301	T	0.29	-25.5872	17.6654	0.88201	0.0:0.8776:0.1224:0.0	.	763;753;662;702;470	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	I	470;702;765;753;702;662;763	ENSP00000381870:V470I;ENSP00000381872:V702I;ENSP00000395260:V765I;ENSP00000400090:V753I;ENSP00000381867:V702I;ENSP00000381863:V662I;ENSP00000401197:V763I	ENSP00000381863:V662I	V	-	1	0	USP19	49126721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.984000	0.70548	2.941000	0.99782	0.655000	0.94253	GTC		0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	Missense_Mutation
USP19	10869	broad.mit.edu	37	3	49152224	49152224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49152224G>A	ENST00000398888.2	-	14	2273	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L	USP19_ENST00000417901.1_Missense_Mutation_p.S755L|USP19_ENST00000453664.1_Missense_Mutation_p.S743L|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.S692L|USP19_ENST00000434032.2_Missense_Mutation_p.S753L|USP19_ENST00000398896.1_Missense_Mutation_p.S460L|USP19_ENST00000398898.2_Missense_Mutation_p.S692L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	652	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.S740L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGCTTCGACTTGTACTG	0.547																																					p.S743L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2228T	3						.						83.0	84.0	84.0					3																	49152224		2098	4226	6324	49127228	SO:0001583	missense	10869	exon15			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1955C>T	3.37:g.49152224G>A	ENSP00000381863:p.Ser652Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49127228	NM_001199162	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796033	0.96952	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.81395	-0.0952	10	0.87932	D	0	-9.9112	20.0726	0.97729	0.0:0.0:1.0:0.0	.	753;743;652;692;460	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	L	460;692;755;743;692;652;753	ENSP00000381870:S460L;ENSP00000381872:S692L;ENSP00000395260:S755L;ENSP00000400090:S743L;ENSP00000381867:S692L;ENSP00000381863:S652L;ENSP00000401197:S753L	ENSP00000381863:S652L	S	-	2	0	USP19	49127228	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.781000	0.99029	2.738000	0.93877	0.655000	0.94253	TCG		0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
CCDC71	64925	broad.mit.edu	37	3	49201377	49201377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49201377G>A	ENST00000321895.6	-	2	371	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	89								p.R89C(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTAGGGGCACGAGCTTGCAGT	0.582																																					p.R89C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	3						.						109.0	86.0	94.0					3																	49201377		2203	4300	6503	49176381	SO:0001583	missense	64925	exon2			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.265C>T	3.37:g.49201377G>A	ENSP00000319006:p.Arg89Cys	Somatic		Capture	Illumina HiSeq	Phase_I	49176381	NM_022903	Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887552	0.33348	.	.	ENSG00000177352	ENST00000321895	T	0.34859	1.34	5.63	2.66	0.31614	.	0.378206	0.24254	N	0.040150	T	0.31857	0.0810	L	0.60455	1.87	0.44927	D	0.997949	B	0.25007	0.116	B	0.14578	0.011	T	0.19160	-1.0314	10	0.87932	D	0	-6.5186	9.1634	0.37037	0.1478:0.1324:0.7197:0.0	.	89	Q8IV32	CCD71_HUMAN	C	89	ENSP00000319006:R89C	ENSP00000319006:R89C	R	-	1	0	CCDC71	49176381	0.248000	0.23930	1.000000	0.80357	0.904000	0.53231	0.699000	0.25586	0.743000	0.32719	0.650000	0.86243	CGT		0.582	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903	
BSN	8927	broad.mit.edu	37	3	49692081	49692081	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49692081C>A	ENST00000296452.4	+	5	5206	c.5092C>A	c.(5092-5094)Ctt>Att	p.L1698I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1698					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.L1698I(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAAGTATGGTCTTGCCCTGGA	0.577																																					p.L1698I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5092A	3						.						112.0	103.0	106.0					3																	49692081		2203	4300	6503	49667085	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5092C>A	3.37:g.49692081C>A	ENSP00000296452:p.Leu1698Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49667085	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310621	0.40895	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	5.16	5.16	0.70880	.	0.154659	0.42964	D	0.000623	T	0.31451	0.0797	L	0.46157	1.445	0.58432	D	0.999991	D	0.62365	0.991	P	0.53313	0.723	T	0.01652	-1.1303	10	0.20519	T	0.43	.	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1698	Q9UPA5	BSN_HUMAN	I	1698	ENSP00000296452:L1698I	ENSP00000296452:L1698I	L	+	1	0	BSN	49667085	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.362000	0.52314	2.420000	0.82092	0.561000	0.74099	CTT		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
BSN	8927	broad.mit.edu	37	3	49692202	49692202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49692202C>T	ENST00000296452.4	+	5	5327	c.5213C>T	c.(5212-5214)tCg>tTg	p.S1738L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1738					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.S1738L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCATGGCCTCGTCTGTGTTC	0.597																																					p.S1738L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5213T	3						.						162.0	161.0	162.0					3																	49692202		2203	4300	6503	49667206	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5213C>T	3.37:g.49692202C>T	ENSP00000296452:p.Ser1738Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49667206	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281622	0.59758	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.43	5.43	0.79202	.	0.209977	0.41938	D	0.000793	T	0.42517	0.1206	M	0.62723	1.935	0.58432	D	0.999994	D	0.89917	1.0	P	0.58970	0.849	T	0.30327	-0.9982	10	0.87932	D	0	.	19.2349	0.93855	0.0:1.0:0.0:0.0	.	1738	Q9UPA5	BSN_HUMAN	L	1738	ENSP00000296452:S1738L	ENSP00000296452:S1738L	S	+	2	0	BSN	49667206	0.999000	0.42202	0.977000	0.42913	0.991000	0.79684	4.028000	0.57246	2.571000	0.86741	0.561000	0.74099	TCG		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
BSN	8927	broad.mit.edu	37	3	49698824	49698824	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49698824C>T	ENST00000296452.4	+	6	9660	c.9546C>T	c.(9544-9546)ggC>ggT	p.G3182G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3182					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.G3182G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTACAGTGGCCCAGCAGTGA	0.642																																					p.G3182G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9546T	3						.						70.0	62.0	64.0					3																	49698824		2203	4300	6503	49673828	SO:0001819	synonymous_variant	8927	exon6			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9546C>T	3.37:g.49698824C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49673828	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																				0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
APEH	327	broad.mit.edu	37	3	49720671	49720671	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49720671C>T	ENST00000296456.5	+	22	2495	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	APEH_ENST00000438011.1_Splice_Site_p.L704F|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	699					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562																																					p.L699F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2095T	3						.						174.0	183.0	180.0					3																	49720671		2203	4300	6503	49695675	SO:0001630	splice_region_variant	327	exon22			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2094-1C>T	3.37:g.49720671C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49695675	NM_001640	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560537	0.45590	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.36340	1.26;1.26	5.88	3.85	0.44370	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.287178	0.34802	N	0.003670	T	0.30262	0.0759	L	0.42686	1.345	0.48452	D	0.999653	B;B	0.21225	0.027;0.053	B;B	0.32724	0.151;0.078	T	0.08700	-1.0709	10	0.30854	T	0.27	-21.4287	7.4136	0.27032	0.1281:0.6723:0.1246:0.075	.	704;699	C9JIF9;P13798	.;ACPH_HUMAN	F	699;704	ENSP00000296456:L699F;ENSP00000415862:L704F	ENSP00000296456:L699F	L	+	1	0	APEH	49695675	0.997000	0.39634	1.000000	0.80357	0.899000	0.52679	0.382000	0.20635	2.782000	0.95742	0.655000	0.94253	CTC		0.562	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		Missense_Mutation
RNF123	63891	broad.mit.edu	37	3	49750049	49750049	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49750049G>T	ENST00000327697.6	+	27	2778	c.2634G>T	c.(2632-2634)aaG>aaT	p.K878N	RNF123_ENST00000432042.1_Missense_Mutation_p.K732N|RNF123_ENST00000433785.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	878					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K878N(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGCTCTCAAGAATTACTTTG	0.557																																					p.K878N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2634T	3						.						134.0	111.0	119.0					3																	49750049		2203	4300	6503	49725053	SO:0001583	missense	63891	exon27			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2634G>T	3.37:g.49750049G>T	ENSP00000328287:p.Lys878Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49725053	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358394	0.82243	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77229	-0.73;-1.08	5.81	4.75	0.60458	.	0.084940	0.85682	D	0.000000	D	0.83663	0.5303	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.83656	0.0158	10	0.59425	D	0.04	-36.7057	11.2437	0.48985	0.1539:0.0:0.8461:0.0	.	732;878	C9J266;Q5XPI4	.;RN123_HUMAN	N	878;878;732	ENSP00000328287:K878N;ENSP00000392443:K732N	ENSP00000328287:K878N	K	+	3	2	RNF123	49725053	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.294000	0.65687	2.756000	0.94617	0.650000	0.86243	AAG		0.557	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
IP6K1	9807	broad.mit.edu	37	3	49770390	49770390	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49770390C>A	ENST00000321599.4	-	4	751	c.450G>T	c.(448-450)aaG>aaT	p.K150N	IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.K150N|IP6K1_ENST00000460540.1_5'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	150					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.K150N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CCTTCGGACTCTTTGCCTCCT	0.532																																					p.K150N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G450T	3						.						66.0	60.0	62.0					3																	49770390		2203	4300	6503	49745394	SO:0001583	missense	9807	exon4			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.450G>T	3.37:g.49770390C>A	ENSP00000323780:p.Lys150Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49745394	NM_153273	A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774226	0.49786	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.47177	0.85;0.85	5.36	3.57	0.40892	.	0.058571	0.64402	D	0.000003	T	0.40791	0.1131	L	0.53249	1.67	0.80722	D	1	P;B	0.44627	0.839;0.013	B;B	0.40444	0.329;0.018	T	0.14364	-1.0475	10	0.20046	T	0.44	-17.8254	11.5333	0.50622	0.0:0.8547:0.0:0.1453	.	150;150	C9JNA8;Q92551	.;IP6K1_HUMAN	N	150	ENSP00000323780:K150N;ENSP00000420467:K150N	ENSP00000323780:K150N	K	-	3	2	IP6K1	49745394	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.866000	0.63005	0.649000	0.30751	0.467000	0.42956	AAG		0.532	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273	
CDHR4	389118	broad.mit.edu	37	3	49836776	49836776	+	Silent	SNP	C	C	T	rs373915925	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49836776C>T	ENST00000412678.2	-	2	152	c.144G>A	c.(142-144)acG>acA	p.T48T	CDHR4_ENST00000487256.1_Silent_p.T48T|CDHR4_ENST00000343366.4_Silent_p.T48T	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	48					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T48T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGGGTGTGGGCGTGTAGGAGG	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0				p.T48T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	3						.	C		5,3921		0,5,1958	92.0	99.0	97.0		144	-0.5	0.0	3		97	0,8278		0,0,4139	no	coding-synonymous	CDHR4	NM_001007540.2		0,5,6097	TT,TC,CC		0.0,0.1274,0.041		48/789	49836776	5,12199	1963	4139	6102	49811780	SO:0001819	synonymous_variant	389118	exon2				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.144G>A	3.37:g.49836776C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49811780	NM_001007540	Q6UXT0	Silent	SNP	ENST00000412678.2	37	CCDS46829.1																																																																																				0.567	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
UBA7	7318	broad.mit.edu	37	3	49850499	49850499	+	Missense_Mutation	SNP	C	C	T	rs140891266	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:49850499C>T	ENST00000333486.3	-	4	621	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	155	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.V155M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTCACCCCACGAGGCCCCGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		18812	0.001		0.0	False		,,,				2504	0.001				p.V155M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	3						.	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	45.0	46.0		463	4.2	0.8	3	dbSNP_134	46	8,8592	6.4+/-24.3	0,8,4292	yes	missense	UBA7	NM_003335.2	21	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	probably-damaging	155/1013	49850499	9,12997	2203	4300	6503	49825503	SO:0001583	missense	7318	exon4			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.463G>A	3.37:g.49850499C>T	ENSP00000333266:p.Val155Met	Somatic		Capture	Illumina HiSeq	Phase_I	49825503	NM_003335	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.40	2.822459	0.50739	2.27E-4	9.3E-4	ENSG00000182179	ENST00000333486	T	0.30448	1.53	5.04	4.17	0.49024	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.416065	0.26650	N	0.023209	T	0.32912	0.0845	L	0.48877	1.53	0.34000	D	0.650228	P	0.52061	0.95	P	0.49361	0.608	T	0.51301	-0.8723	10	0.87932	D	0	.	7.6356	0.28264	0.1632:0.7537:0.0:0.0831	.	155	P41226	UBA7_HUMAN	M	155	ENSP00000333266:V155M	ENSP00000333266:V155M	V	-	1	0	UBA7	49825503	0.367000	0.25023	0.760000	0.31359	0.275000	0.26752	2.650000	0.46665	1.252000	0.44001	0.462000	0.41574	GTG		0.597	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
GNAT1	2779	broad.mit.edu	37	3	50232213	50232213	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:50232213A>G	ENST00000433068.1	+	8	934	c.878A>G	c.(877-879)gAg>gGg	p.E293G	GNAT1_ENST00000232461.3_Missense_Mutation_p.E293G	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	293					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E293G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AACACCTACGAGGACGCCGGC	0.677											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E293G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	3						.						66.0	59.0	61.0					3																	50232213		2203	4300	6503	50207217	SO:0001583	missense	2779	exon8				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.878A>G	3.37:g.50232213A>G	ENSP00000387555:p.Glu293Gly	Somatic	968	Capture	Illumina HiSeq	Phase_I	50207217	NM_000172	Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519499	0.85495	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.90385	-2.66;-2.66	4.88	4.88	0.63580	.	0.209202	0.47852	D	0.000203	D	0.90566	0.7043	M	0.71296	2.17	0.58432	D	0.999998	P	0.42785	0.79	B	0.43701	0.428	D	0.90607	0.4549	10	0.48119	T	0.1	.	13.4436	0.61127	1.0:0.0:0.0:0.0	.	293	P11488	GNAT1_HUMAN	G	293	ENSP00000232461:E293G;ENSP00000387555:E293G	ENSP00000232461:E293G	E	+	2	0	GNAT1	50207217	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	9.120000	0.94369	1.818000	0.53035	0.402000	0.26972	GAG		0.677	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172	
SEMA3B	7869	broad.mit.edu	37	3	50311011	50311011	+	RNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:50311011T>C	ENST00000418948.1	+	0	1090							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.F285L(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGGACGACGTTCCTGAAGGC	0.672											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R285R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T855C	3						.						45.0	54.0	51.0					3																	50311011		2132	4234	6366	50286015			7869	exon9			U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311011T>C		Somatic	968	Capture	Illumina HiSeq	Phase_I	50286015	NM_001005914	Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37		.	.	.	.	.	.	.	.	.	.	T	31	5.084393	0.94100	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.97	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.096157	0.64402	N	0.000001	T	0.72867	0.3514	.	.	.	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.997;1.0	T	0.80289	-0.1445	7	0.87932	D	0	.	8.6606	0.34091	0.0:0.0906:0.0:0.9094	.	286;285;286	Q13214-2;F5H2H7;Q13214	.;.;SEM3B_HUMAN	L	285	.	ENSP00000446262:F285L	F	+	1	0	SEMA3B	50286015	1.000000	0.71417	0.440000	0.26846	0.757000	0.42996	7.861000	0.87004	0.936000	0.37367	0.533000	0.62120	TTC		0.672	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914	
DOCK3	1795	broad.mit.edu	37	3	50914911	50914911	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:50914911C>T	ENST00000266037.9	+	4	185					NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAATTTATTTCATTTGTTCTG	0.423																																					.												.	.	0			.	3						.						118.0	115.0	116.0					3																	50914911		2006	4196	6202	50889929	SO:0001627	intron_variant	1795	.			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.163-12546C>T	3.37:g.50914911C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50889929	.	O15017	Intron	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.423	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51297580	51297580	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:51297580T>G	ENST00000266037.9	+	23	2207					NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTCCCACACTTTTCAGGCCT	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						77.0	74.0	75.0					3																	51297580		1931	4153	6084	51272620	SO:0001627	intron_variant	1795	.			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2185-7T>G	3.37:g.51297580T>G		Somatic		Capture	Illumina HiSeq	Phase_I	51272620	.	O15017	Intron	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.438	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51387821	51387821	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:51387821C>T	ENST00000266037.9	+	40	4128	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1369	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1369W(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTCTTTCTTCGGGTGAGTCC	0.423																																					p.S1355L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4064T	3						.						133.0	130.0	131.0					3																	51387821		1868	4097	5965	51362861	SO:0001583	missense	1795	exon40			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4105C>T	3.37:g.51387821C>T	ENSP00000266037:p.Arg1369Trp	Somatic		Capture	Illumina HiSeq	Phase_I	51362861	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075525	0.76415	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.07444	3.19	5.31	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22243	-1.0222	10	0.87932	D	0	.	12.9648	0.58478	0.2947:0.7053:0.0:0.0	.	1369	Q8IZD9	DOCK3_HUMAN	W	1369;165	ENSP00000266037:R1369W	ENSP00000266037:R1369W	R	+	1	2	DOCK3	51362861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.372000	0.34261	1.193000	0.43086	0.585000	0.79938	CGG		0.423	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
VPRBP	9730	broad.mit.edu	37	3	51497146	51497146	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:51497146A>G	ENST00000335891.5	-	4	368	c.359T>C	c.(358-360)gTc>gCc	p.V120A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	120					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.V120A(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTGAAAGACGACAGCAGTTTC	0.378																																					p.V120A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T359C	3						.						56.0	51.0	53.0					3																	51497146		1902	4140	6042	51472186	SO:0001583	missense	9730	exon6			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.359T>C	3.37:g.51497146A>G	ENSP00000338857:p.Val120Ala	Somatic		Capture	Illumina HiSeq	Phase_I	51472186	NM_014703	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	A	15.66	2.899847	0.52227	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.56611	0.45;0.81	5.51	5.51	0.81932	Armadillo-type fold (1);	0.057232	0.64402	D	0.000002	T	0.37945	0.1022	L	0.31207	0.915	0.28013	N	0.934848	B	0.24368	0.102	B	0.24541	0.054	T	0.23154	-1.0196	10	0.02654	T	1	-11.4123	15.2838	0.73810	1.0:0.0:0.0:0.0	.	120	Q9Y4B6	VPRBP_HUMAN	A	120	ENSP00000338857:V120A;ENSP00000421724:V120A	ENSP00000338857:V120A	V	-	2	0	VPRBP	51472186	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.862000	0.75484	2.093000	0.63338	0.459000	0.35465	GTC		0.378	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
IQCF2	389123	broad.mit.edu	37	3	51897390	51897390	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:51897390C>T	ENST00000333127.3	+	0	528				IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2											endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCCTAAGGGCTGGCAAGAAG	0.542																																					.												.	.	0			.	3						.						77.0	75.0	76.0					3																	51897390		2203	4300	6503	51872430	SO:0001624	3_prime_UTR_variant	389123	.			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.*4C>T	3.37:g.51897390C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51872430	.		3'UTR	SNP	ENST00000333127.3	37	CCDS2835.1																																																																																				0.542	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424	
POC1A	25886	broad.mit.edu	37	3	52156396	52156396	+	Splice_Site	SNP	A	A	C	rs539829904		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52156396A>C	ENST00000296484.2	-	9	1019	c.980T>G	c.(979-981)cTg>cGg	p.L327R	POC1A_ENST00000474012.1_Splice_Site_p.L289R|POC1A_ENST00000394970.2_Splice_Site_p.L327R	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	327					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.L327R(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCCACTTACCAGATTCCCCAT	0.547																																					p.L289R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T866G	3						.						65.0	60.0	62.0					3																	52156396		2203	4300	6503	52131436	SO:0001630	splice_region_variant	25886	exon9			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.981+1T>G	3.37:g.52156396A>C		Somatic		Capture	Illumina HiSeq	Phase_I	52131436	NM_001161581	A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719476	0.30503	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.59906	0.33;0.23;0.54	4.64	2.11	0.27256	.	1.076350	0.07227	N	0.861877	T	0.43853	0.1266	L	0.39898	1.24	0.33976	D	0.647439	B;B	0.25955	0.001;0.138	B;B	0.21917	0.002;0.037	T	0.42832	-0.9428	10	0.16420	T	0.52	.	5.0536	0.14522	0.7202:0.1831:0.0967:0.0	.	327;327	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	R	327;327;289	ENSP00000296484:L327R;ENSP00000378421:L327R;ENSP00000418968:L289R	ENSP00000296484:L327R	L	-	2	0	POC1A	52131436	0.999000	0.42202	0.960000	0.40013	0.531000	0.34715	1.211000	0.32382	0.330000	0.23485	0.533000	0.62120	CTG		0.547	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426	Missense_Mutation
ALAS1	211	broad.mit.edu	37	3	52239973	52239973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52239973C>T	ENST00000394965.2	+	7	1279	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	ALAS1_ENST00000469224.1_Missense_Mutation_p.L307F|ALAS1_ENST00000484952.1_Missense_Mutation_p.L307F|ALAS1_ENST00000310271.2_Missense_Mutation_p.L307F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	307					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.L307F(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGATGCCGCACTCTTGTTTTC	0.507																																					p.L307F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919T	3						.						171.0	162.0	165.0					3																	52239973		2203	4300	6503	52215013	SO:0001583	missense	211	exon7			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.919C>T	3.37:g.52239973C>T	ENSP00000378416:p.Leu307Phe	Somatic		Capture	Illumina HiSeq	Phase_I	52215013	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002190	0.74932	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.83	4.77	0.60923	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97710	1.0190	10	0.87932	D	0	-19.6139	11.8416	0.52357	0.0:0.8127:0.0:0.1873	.	324;307	B4DVA0;P13196	.;HEM1_HUMAN	F	307	ENSP00000417719:L307F;ENSP00000378416:L307F;ENSP00000309259:L307F;ENSP00000418779:L307F	ENSP00000309259:L307F	L	+	1	0	ALAS1	52215013	0.956000	0.32656	0.964000	0.40570	0.916000	0.54674	2.115000	0.41921	2.758000	0.94735	0.467000	0.42956	CTC		0.507	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
ALAS1	211	broad.mit.edu	37	3	52242102	52242102	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52242102C>T	ENST00000394965.2	+	9	1529	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	ALAS1_ENST00000469224.1_Missense_Mutation_p.A390V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A390V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A390V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	390					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.A390V(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TCCTCAGGGGCGGTGTGCCCA	0.512																																					p.A390V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169T	3						.						112.0	111.0	112.0					3																	52242102		2203	4300	6503	52217142	SO:0001583	missense	211	exon9			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1169C>T	3.37:g.52242102C>T	ENSP00000378416:p.Ala390Val	Somatic		Capture	Illumina HiSeq	Phase_I	52217142	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992414	0.93167	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.21	4.33	0.51752	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.210215	0.48286	D	0.000181	D	0.94105	0.8110	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.93875	0.7166	10	0.51188	T	0.08	-14.8681	13.8445	0.63459	0.0:0.9239:0.0:0.0761	.	407;390	B4DVA0;P13196	.;HEM1_HUMAN	V	390	ENSP00000417719:A390V;ENSP00000378416:A390V;ENSP00000309259:A390V;ENSP00000418779:A390V	ENSP00000309259:A390V	A	+	2	0	ALAS1	52217142	1.000000	0.71417	0.851000	0.33527	0.986000	0.74619	6.019000	0.70818	2.430000	0.82344	0.655000	0.94253	GCG		0.512	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
TLR9	54106	broad.mit.edu	37	3	52257685	52257685	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52257685C>T	ENST00000360658.2	-	2	1280	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TLR9_ENST00000494383.1_Silent_p.P369P|TLR9_ENST00000597542.1_Missense_Mutation_p.R240H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	216					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.R216H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AGGCAGGTTGCGGGGCACCAC	0.632																																					p.R216H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G647A	3						.						39.0	33.0	35.0					3																	52257685		2203	4300	6503	52232725	SO:0001583	missense	54106	exon2			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.647G>A	3.37:g.52257685C>T	ENSP00000353874:p.Arg216His	Somatic		Capture	Illumina HiSeq	Phase_I	52232725	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934649	0.52866	.	.	ENSG00000239732	ENST00000360658	T	0.57273	0.41	5.57	1.0	0.19881	.	0.000000	0.37012	N	0.002294	T	0.45955	0.1368	N	0.11870	0.19	0.09310	N	1	P;D	0.89917	0.476;1.0	B;D	0.76575	0.057;0.988	T	0.23655	-1.0182	10	0.52906	T	0.07	.	3.8792	0.09071	0.3023:0.4532:0.0:0.2445	.	313;216	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	216	ENSP00000353874:R216H	ENSP00000353874:R216H	R	-	2	0	TLR9	52232725	0.000000	0.05858	0.326000	0.25389	0.560000	0.35617	-0.644000	0.05415	0.263000	0.21812	0.655000	0.94253	CGC		0.632	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
DNAH1	25981	broad.mit.edu	37	3	52380746	52380746	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52380746G>T	ENST00000420323.2	+	11	2176	c.1915G>T	c.(1915-1917)Gac>Tac	p.D639Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	639	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D639Y(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCACCGATGACATGGTCTG	0.597																																					p.D639Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1915T	3						.						54.0	56.0	55.0					3																	52380746		2155	4267	6422	52355786	SO:0001583	missense	25981	exon11			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1915G>T	3.37:g.52380746G>T	ENSP00000401514:p.Asp639Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52355786	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122631	0.56613	.	.	ENSG00000114841	ENST00000420323	T	0.25250	1.81	4.48	4.48	0.54585	.	0.571176	0.15542	N	0.256862	T	0.48892	0.1525	M	0.76002	2.32	0.50813	D	0.999897	P;P	0.50617	0.523;0.937	B;P	0.58172	0.176;0.834	T	0.52449	-0.8574	10	0.56958	D	0.05	.	17.1622	0.86806	0.0:0.0:1.0:0.0	.	639;639	C9JXH6;Q9P2D7-3	.;.	Y	639	ENSP00000401514:D639Y	ENSP00000401514:D639Y	D	+	1	0	DNAH1	52355786	1.000000	0.71417	0.854000	0.33618	0.292000	0.27327	5.787000	0.69013	2.049000	0.60858	0.563000	0.77884	GAC		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52389034	52389034	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52389034G>A	ENST00000420323.2	+	21	3917	c.3656G>A	c.(3655-3657)cGc>cAc	p.R1219H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1219	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1219H(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGAGCAGCGCATCAACTCC	0.582																																					p.R1219H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3656A	3						.						111.0	113.0	112.0					3																	52389034		2033	4183	6216	52364074	SO:0001583	missense	25981	exon21			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3656G>A	3.37:g.52389034G>A	ENSP00000401514:p.Arg1219His	Somatic		Capture	Illumina HiSeq	Phase_I	52364074	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521137	0.85600	.	.	ENSG00000114841	ENST00000420323	T	0.62364	0.03	5.29	5.29	0.74685	.	0.000000	0.45867	D	0.000321	D	0.85039	0.5606	H	0.94183	3.505	0.44946	D	0.997969	D	0.89917	1.0	D	0.71414	0.973	D	0.88960	0.3393	10	0.62326	D	0.03	.	18.9092	0.92475	0.0:0.0:1.0:0.0	.	1219	C9JXH6	.	H	1219	ENSP00000401514:R1219H	ENSP00000401514:R1219H	R	+	2	0	DNAH1	52364074	0.999000	0.42202	0.999000	0.59377	0.987000	0.75469	4.532000	0.60608	2.481000	0.83766	0.462000	0.41574	CGC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
BAP1	8314	broad.mit.edu	37	3	52439816	52439816	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52439816T>C	ENST00000460680.1	-	10	1367	c.896A>G	c.(895-897)aAc>aGc	p.N299S	BAP1_ENST00000296288.5_Missense_Mutation_p.N281S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	210					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N299S(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGGGCCCTGTTTGCTTCCAG	0.592			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.N299S	GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A896G	3						.						55.0	55.0	55.0					3																	52439816		2203	4300	6503	52414856	SO:0001583	missense	8314	exon10			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.896A>G	3.37:g.52439816T>C	ENSP00000417132:p.Asn299Ser	Somatic		Capture	Illumina HiSeq	Phase_I	52414856	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.493114	0.01009	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53857	0.61;0.6	5.38	1.54	0.23209	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.848269	0.11305	N	0.577848	T	0.29749	0.0743	N	0.16478	0.41	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	10	0.06757	T	0.87	-1.2294	7.9767	0.30159	0.0:0.5762:0.0:0.4238	.	299	Q92560	BAP1_HUMAN	S	299;281	ENSP00000417132:N299S;ENSP00000296288:N281S	ENSP00000296288:N281S	N	-	2	0	BAP1	52414856	0.007000	0.16637	0.968000	0.41197	0.138000	0.21146	-0.090000	0.11163	0.331000	0.23511	-0.242000	0.12053	AAC		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
PHF7	51533	broad.mit.edu	37	3	52455723	52455723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52455723A>C	ENST00000327906.3	+	8	1293	c.633A>C	c.(631-633)aaA>aaC	p.K211N	PHF7_ENST00000347025.2_Missense_Mutation_p.K211N	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	211						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.K211N(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAATCGAAAAGAGTTTCCTC	0.433																																					p.K211N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A633C	3						.						90.0	87.0	88.0					3																	52455723		2203	4300	6503	52430763	SO:0001583	missense	51533	exon8			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.633A>C	3.37:g.52455723A>C	ENSP00000333024:p.Lys211Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52430763	NM_016483	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	15.21|15.21|15.21	2.765305|2.765305|2.765305	0.49574|0.49574|0.49574	.|.|.	.|.|.	ENSG00000010318|ENSG00000010318|ENSG00000010318	ENST00000454052|ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000461861;ENST00000465863	.|D;D;T|D;T	.|0.86297|0.82984	.|-2.1;-2.1;1.0|-1.67;-0.05	5.94|5.94|5.94	1.95|1.95|1.95	0.26073|0.26073|0.26073	.|.|.	.|0.262543|0.262543	.|0.42821|0.42821	.|D|D	.|0.000649|0.000649	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.25557|0.25557|0.25557	N|N|N	0.987022|0.987022|0.987022	.|B;B|.	.|0.17038|.	.|0.02;0.02|.	.|B;B|.	.|0.16722|.	.|0.016;0.016|.	.|T|T	.|0.60485|0.60485	.|-0.7254|-0.7254	.|10|8	.|0.40728|0.42905	.|T|T	.|0.16|0.14	.|-0.493|-0.493	7.486|7.486|7.486	0.27432|0.27432|0.27432	0.7181:0.0:0.2819:0.0|0.7181:0.0:0.2819:0.0|0.7181:0.0:0.2819:0.0	.|.|.	.|211;211|.	.|A8K856;Q9BWX1|.	.|.;PHF7_HUMAN|.	.|N|T	-1|211;211;211;119|171;44	.|ENSP00000419316:K211N;ENSP00000333024:K211N;ENSP00000246282:K211N|ENSP00000417712:K171T;ENSP00000420521:K44T	.|ENSP00000333024:K211N|ENSP00000417712:K171T	.|K|K	+|+|+	.|3|2	.|2|0	PHF7|PHF7|PHF7	52430763|52430763|52430763	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.006000|0.006000|0.006000	0.13152|0.13152|0.13152	0.523000|0.523000|0.523000	0.28482|0.28482|0.28482	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	.|AAA|AAG		0.433	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483	
GLT8D1	55830	broad.mit.edu	37	3	52729561	52729561	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52729561G>A	ENST00000407584.3	-	9	1538	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	GLT8D1_ENST00000478968.2_Missense_Mutation_p.R230C|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000394783.3_Missense_Mutation_p.R230C|GLT8D1_ENST00000491606.1_Missense_Mutation_p.R230C|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000266014.5_Missense_Mutation_p.R230C	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	230						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R230C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAAAGCTTACGAATTCTTTCC	0.333																																					p.R230C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688T	3						.						104.0	106.0	106.0					3																	52729561		2203	4299	6502	52704601	SO:0001583	missense	55830	exon8			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.688C>T	3.37:g.52729561G>A	ENSP00000385730:p.Arg230Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52704601	NM_152932	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	CCDS2862.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915745	0.73098	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.82	4.92	0.64577	.	0.053979	0.85682	D	0.000000	T	0.46870	0.1415	L	0.58101	1.795	0.58432	D	0.999997	D	0.89917	1.0	D	0.69307	0.963	T	0.38499	-0.9658	10	0.62326	D	0.03	-11.5253	16.3573	0.83241	0.0:0.0:0.8676:0.1324	.	230	Q68CQ7	GL8D1_HUMAN	C	230;230;230;230;230;61	ENSP00000419612:R230C;ENSP00000378263:R230C;ENSP00000385730:R230C;ENSP00000266014:R230C;ENSP00000418853:R230C	ENSP00000266014:R230C	R	-	1	0	GLT8D1	52704601	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.896000	0.63222	2.756000	0.94617	0.563000	0.77884	CGT		0.333	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932	
NEK4	6787	broad.mit.edu	37	3	52786180	52786180	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52786180C>T	ENST00000233027.5	-	7	1338	c.1136G>A	c.(1135-1137)aGt>aAt	p.S379N	NEK4_ENST00000383721.4_Missense_Mutation_p.S379N|NEK4_ENST00000535191.1_Missense_Mutation_p.S290N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	379					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S379N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AAAGCCATCACTCACTGAATC	0.443																																					p.S290N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869A	3						.						314.0	306.0	309.0					3																	52786180		2203	4300	6503	52761220	SO:0001583	missense	6787	exon6			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1136G>A	3.37:g.52786180C>T	ENSP00000233027:p.Ser379Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52761220	NM_001193533	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	2.445	-0.327698	0.05314	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.74002	-0.72;-0.79;-0.7;-0.8	4.75	1.35	0.21983	.	0.448323	0.22900	N	0.054264	T	0.48677	0.1513	N	0.10874	0.06	0.09310	N	1	B;B;B	0.22746	0.074;0.027;0.034	B;B;B	0.17979	0.02;0.013;0.02	T	0.27365	-1.0076	10	0.22109	T	0.4	.	6.3643	0.21445	0.0:0.5401:0.0:0.4599	.	290;379;379	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	N	379;290;379;290	ENSP00000233027:S379N;ENSP00000437703:S290N;ENSP00000373227:S379N;ENSP00000419666:S290N	ENSP00000233027:S379N	S	-	2	0	NEK4	52761220	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.052000	0.11865	0.006000	0.14734	0.491000	0.48974	AGT		0.443	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ITIH1	3697	broad.mit.edu	37	3	52815959	52815959	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52815959C>A	ENST00000273283.2	+	7	715	c.691C>A	c.(691-693)Cat>Aat	p.H231N	ITIH1_ENST00000537050.1_De_novo_Start_OutOfFrame|ITIH1_ENST00000542827.1_Missense_Mutation_p.H231N|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.H89N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	231					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H231N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTCCAGGGTCATGTGCTGTT	0.522																																					p.H89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265A	3						.						149.0	118.0	128.0					3																	52815959		2203	4300	6503	52790999	SO:0001583	missense	3697	exon5				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.691C>A	3.37:g.52815959C>A	ENSP00000273283:p.His231Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52790999	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565177	0.45694	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.78;4.66	5.54	5.54	0.83059	.	0.527727	0.22784	N	0.055682	T	0.07683	0.0193	M	0.72479	2.2	0.80722	D	1	P	0.38048	0.616	B	0.41088	0.347	T	0.02721	-1.1119	10	0.56958	D	0.05	-4.2249	16.7517	0.85488	0.0:1.0:0.0:0.0	.	231	P19827	ITIH1_HUMAN	N	231;231;89	ENSP00000442584:H231N;ENSP00000273283:H231N;ENSP00000443973:H89N	ENSP00000273283:H231N	H	+	1	0	ITIH1	52790999	0.994000	0.37717	0.940000	0.37924	0.233000	0.25261	3.708000	0.54845	2.754000	0.94517	0.655000	0.94253	CAT		0.522	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
SFMBT1	51460	broad.mit.edu	37	3	52946615	52946615	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52946615G>A	ENST00000394752.3	-	16	2051	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R557W|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R557W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R557W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	557					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R557W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGGAGCTCCCGAAGGACACGG	0.468																																					p.R557W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1669T	3						.						92.0	89.0	90.0					3																	52946615		2203	4300	6503	52921655	SO:0001583	missense	51460	exon17			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1669C>T	3.37:g.52946615G>A	ENSP00000378235:p.Arg557Trp	Somatic		Capture	Illumina HiSeq	Phase_I	52921655	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288828	0.80914	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.67166	-0.5739	10	0.72032	D	0.01	.	14.4816	0.67587	0.0:0.0:0.8527:0.1473	.	557;557	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	W	557	ENSP00000378235:R557W;ENSP00000350789:R557W;ENSP00000296295:R557W;ENSP00000378233:R557W	ENSP00000296295:R557W	R	-	1	2	SFMBT1	52921655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.115000	0.50391	2.657000	0.90304	0.557000	0.71058	CGG		0.468	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
SFMBT1	51460	broad.mit.edu	37	3	52962276	52962276	+	Missense_Mutation	SNP	C	C	T	rs201801140		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:52962276C>T	ENST00000394752.3	-	9	1361	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SFMBT1_ENST00000394750.1_Missense_Mutation_p.A327T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A327T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A327T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	327					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.A327T(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGACTGTCGGCGTGGCACACA	0.502													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16248	0.0		0.0	False		,,,				2504	0.0				p.A327T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	3						.						138.0	125.0	129.0					3																	52962276		2203	4300	6503	52937316	SO:0001583	missense	51460	exon10			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.979G>A	3.37:g.52962276C>T	ENSP00000378235:p.Ala327Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52937316	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.74	2.625398	0.46840	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.75	4.88	0.63580	.	0.485574	0.22871	N	0.054624	T	0.40719	0.1128	M	0.67625	2.065	0.09310	N	1	B;B	0.32382	0.322;0.368	B;P	0.47827	0.249;0.558	T	0.38351	-0.9665	10	0.27082	T	0.32	.	5.7121	0.17941	0.2308:0.5829:0.1172:0.0691	.	327;327	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	T	327	ENSP00000378235:A327T;ENSP00000350789:A327T;ENSP00000296295:A327T;ENSP00000378233:A327T	ENSP00000296295:A327T	A	-	1	0	SFMBT1	52937316	0.476000	0.25901	0.021000	0.16686	0.934000	0.57294	0.994000	0.29693	1.435000	0.47434	0.650000	0.86243	GCC		0.502	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
CACNA1D	776	broad.mit.edu	37	3	53756508	53756508	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:53756508G>A	ENST00000350061.5	+	12	2177				CACNA1D_ENST00000422281.2_Intron|CACNA1D_ENST00000288139.4_Intron	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.?(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGGTACAAGCAGAGGCCAT	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						103.0	90.0	94.0					3																	53756508		2203	4300	6503	53731548	SO:0001627	intron_variant	776	.			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1666+7G>A	3.37:g.53756508G>A		Somatic		Capture	Illumina HiSeq	Phase_I	53731548	.	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Intron	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.433	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CACNA1D	776	broad.mit.edu	37	3	53839033	53839033	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:53839033G>T	ENST00000350061.5	+	45	6120	c.5609G>T	c.(5608-5610)aGa>aTa	p.R1870I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1846I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R249I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1890I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1870					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R1890I(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TACTACAGCAGATACCCAGGC	0.527																																					p.R1846I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5537T	3						.						83.0	81.0	81.0					3																	53839033		2203	4300	6503	53814073	SO:0001583	missense	776	exon43			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5609G>T	3.37:g.53839033G>T	ENSP00000288133:p.Arg1870Ile	Somatic		Capture	Illumina HiSeq	Phase_I	53814073	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355043	0.41700	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.7	4.7	0.59300	.	3.348070	0.01996	U	0.045905	T	0.52996	0.1769	L	0.38531	1.155	0.51482	D	0.999923	B;B;B;B	0.23806	0.001;0.004;0.091;0.014	B;B;B;B	0.19148	0.003;0.003;0.024;0.014	T	0.29119	-1.0022	10	0.44086	T	0.13	.	10.8094	0.46538	0.0884:0.0:0.9116:0.0	.	1846;1563;1870;1890	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	1870;1890;1846;1563;249	ENSP00000288133:R1870I;ENSP00000288139:R1890I;ENSP00000409174:R1846I;ENSP00000418014:R1563I;ENSP00000440956:R249I	ENSP00000288139:R1890I	R	+	2	0	CACNA1D	53814073	1.000000	0.71417	0.962000	0.40283	0.485000	0.33311	6.937000	0.75898	2.326000	0.78906	0.655000	0.94253	AGA		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CACNA2D3	55799	broad.mit.edu	37	3	54661844	54661844	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:54661844G>A	ENST00000474759.1	+	10	1042	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A332T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A238T|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A332T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	332	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A332T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAAACTTTTCGCCAAAGGAAT	0.408																																					p.A332T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G994A	3						.						105.0	96.0	99.0					3																	54661844		1934	4125	6059	54636884	SO:0001583	missense	55799	exon10			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.994G>A	3.37:g.54661844G>A	ENSP00000419101:p.Ala332Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54636884	NM_018398	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528621	0.64860	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.37	5.37	0.77165	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	M	0.68317	2.08	0.47949	D	0.999553	D	0.61697	0.99	P	0.59012	0.85	T	0.01480	-1.1344	10	0.22706	T	0.39	.	17.2805	0.87127	0.0:0.0:1.0:0.0	.	332	Q8IZS8	CA2D3_HUMAN	T	332;332;332;238;238;237	ENSP00000389506:A332T;ENSP00000419101:A332T;ENSP00000288197:A332T;ENSP00000417279:A238T	ENSP00000288197:A332T	A	+	1	0	CACNA2D3	54636884	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.167000	0.94773	2.524000	0.85096	0.561000	0.74099	GCC		0.408	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
CACNA2D3	55799	broad.mit.edu	37	3	55052285	55052285	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:55052285C>T	ENST00000474759.1	+	35	2976	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	CACNA2D3_ENST00000288197.5_Silent_p.F976F|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.F882F|CACNA2D3_ENST00000415676.2_Silent_p.F976F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	976						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F976F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ATCCAGCATTCGTCTCTGAGC	0.488																																					p.F976F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2928T	3						.						86.0	83.0	84.0					3																	55052285		1929	4135	6064	55027325	SO:0001819	synonymous_variant	55799	exon35			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2928C>T	3.37:g.55052285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55027325	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.488	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
WNT5A	7474	broad.mit.edu	37	3	55513427	55513427	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:55513427T>G	ENST00000474267.1	-	4	827	c.306A>C	c.(304-306)aaA>aaC	p.K102N	WNT5A_ENST00000497027.1_Missense_Mutation_p.K87N|WNT5A_ENST00000264634.4_Missense_Mutation_p.K102N			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	102					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K195N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ACTGGCATTCTTTGATGCCTG	0.483																																					p.K102N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A306C	3						.						125.0	118.0	120.0					3																	55513427		2004	4174	6178	55488467	SO:0001583	missense	7474	exon3			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.306A>C	3.37:g.55513427T>G	ENSP00000417310:p.Lys102Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55488467	NM_003392	A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129434	0.37630	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.74	-0.861	0.10676	.	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	L	0.45228	1.405	0.45194	D	0.998205	P	0.45634	0.863	P	0.46850	0.529	T	0.62923	-0.6751	10	0.34782	T	0.22	.	11.0305	0.47769	0.0:0.5468:0.0:0.4532	.	102	P41221	WNT5A_HUMAN	N	102;102;13;87;87	ENSP00000417310:K102N;ENSP00000264634:K102N;ENSP00000420104:K87N;ENSP00000418184:K87N	ENSP00000264634:K102N	K	-	3	2	WNT5A	55488467	0.872000	0.30054	0.994000	0.49952	0.996000	0.88848	-0.013000	0.12678	-0.057000	0.13199	0.460000	0.39030	AAA		0.483	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392	
WNT5A	7474	broad.mit.edu	37	3	55514948	55514948	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:55514948T>C	ENST00000474267.1	-	3	528		c.e3-2		WNT5A_ENST00000497027.1_Splice_Site|WNT5A_ENST00000264634.4_Splice_Site			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		AATGGACTTCTGGAGAGGGAA	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						44.0	44.0	44.0					3																	55514948		1858	4109	5967	55489988	SO:0001630	splice_region_variant	7474	.			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.7-2A>G	3.37:g.55514948T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55489988	.	A8K4A4|Q6P278	Splice_Site	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262757	0.39995	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000442038	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9194	0.70826	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WNT5A	55489988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.254000	0.74563	0.533000	0.62120	.		0.433	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392	Intron
ERC2	26059	broad.mit.edu	37	3	56114904	56114904	+	Missense_Mutation	SNP	G	G	A	rs373620783		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:56114904G>A	ENST00000288221.6	-	7	1837	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	528						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R528C(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCATGTCACGAATTTCACCG	0.398																																					p.R528C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1582T	3						.	G	CYS/ARG	1,3739		0,1,1869	156.0	138.0	144.0		1582	5.8	1.0	3		144	0,8198		0,0,4099	no	missense	ERC2	NM_015576.1	180	0,1,5968	AA,AG,GG		0.0,0.0267,0.0084	probably-damaging	528/958	56114904	1,11937	1870	4099	5969	56089944	SO:0001583	missense	26059	exon7			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1582C>T	3.37:g.56114904G>A	ENSP00000288221:p.Arg528Cys	Somatic		Capture	Illumina HiSeq	Phase_I	56089944	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032213	0.75504	2.67E-4	0.0	ENSG00000187672	ENST00000288221	T	0.45668	0.89	5.81	5.81	0.92471	.	0.109105	0.64402	D	0.000009	T	0.58032	0.2094	L	0.38531	1.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.56974	-0.7890	10	0.59425	D	0.04	-9.009	20.0714	0.97726	0.0:0.0:1.0:0.0	.	528	O15083	ERC2_HUMAN	C	528	ENSP00000288221:R528C	ENSP00000288221:R528C	R	-	1	0	ERC2	56089944	1.000000	0.71417	0.952000	0.39060	0.955000	0.61496	4.473000	0.60196	2.750000	0.94351	0.585000	0.79938	CGT		0.398	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
FAM208A	23272	broad.mit.edu	37	3	56667152	56667152	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:56667152T>G	ENST00000493960.2	-	18	3677	c.3667A>C	c.(3667-3669)Atc>Ctc	p.I1223L	FAM208A_ENST00000355628.5_Missense_Mutation_p.I1162L|FAM208A_ENST00000431842.2_Missense_Mutation_p.I786L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1223							poly(A) RNA binding (GO:0044822)	p.I786L(1)|p.I1162L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTTTCATGATTTTAACCAAA	0.323																																					p.I1223L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3667C	3						.						65.0	70.0	68.0					3																	56667152		2203	4300	6503	56642192	SO:0001583	missense	23272	exon18			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3667A>C	3.37:g.56667152T>G	ENSP00000417509:p.Ile1223Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56642192	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259031	0.80246	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.20332	2.08;2.29;2.26	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.47192	0.1432	M	0.69823	2.125	0.54753	D	0.999981	D;D;D;D	0.69078	0.997;0.974;0.997;0.985	D;D;D;D	0.83275	0.996;0.951;0.994;0.952	T	0.45571	-0.9252	10	0.62326	D	0.03	-8.3737	16.1116	0.81266	0.0:0.0:0.0:1.0	.	1223;1162;786;1223	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	L	786;1223;1162	ENSP00000399410:I786L;ENSP00000417509:I1223L;ENSP00000347845:I1162L	ENSP00000347845:I1162L	I	-	1	0	C3orf63	56642192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.267000	0.78462	2.270000	0.75569	0.477000	0.44152	ATC		0.323	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
ARHGEF3	50650	broad.mit.edu	37	3	56779268	56779268	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:56779268T>G	ENST00000296315.3	-	7	1003	c.835A>C	c.(835-837)Aat>Cat	p.N279H	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.N279H|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.N285H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.N285H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.N250H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.N311H	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	279	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N279H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGATTATCATTTGGTGTGTGC	0.443																																					p.N311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A931C	3						.						140.0	139.0	140.0					3																	56779268		2203	4300	6503	56754308	SO:0001583	missense	50650	exon10			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.835A>C	3.37:g.56779268T>G	ENSP00000296315:p.Asn279His	Somatic		Capture	Illumina HiSeq	Phase_I	56754308	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006849	0.74932	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.089542	0.85682	D	0.000000	T	0.68550	0.3013	L	0.40543	1.245	0.53688	D	0.999979	P;P;D;P;D;D;D	0.57257	0.906;0.906;0.959;0.771;0.979;0.967;0.959	P;P;P;P;P;P;P	0.57057	0.731;0.731;0.611;0.607;0.812;0.731;0.699	T	0.70182	-0.4942	10	0.56958	D	0.05	-10.8519	16.5479	0.84454	0.0:0.0:0.0:1.0	.	285;250;77;279;311;279;285	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	H	279;311;285;285;250;279	ENSP00000296315:N279H;ENSP00000341071:N311H;ENSP00000410922:N285H;ENSP00000420420:N285H;ENSP00000418826:N250H;ENSP00000417986:N279H	ENSP00000296315:N279H	N	-	1	0	ARHGEF3	56754308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.090000	0.64498	2.371000	0.80710	0.533000	0.62120	AAT		0.443	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555	
DNAH12	201625	broad.mit.edu	37	3	57488146	57488146	+	Nonsense_Mutation	SNP	C	C	A	rs377045718		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:57488146C>A	ENST00000351747.2	-	10	1327	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	DNAH12_ENST00000311202.6_Nonsense_Mutation_p.E383*|DNAH12_ENST00000389536.4_Nonsense_Mutation_p.E383*	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	383	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E383*(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCAGGAAGTTCTGTGTCAAGA	0.378																																					p.E383X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1147T	3						.	C	stop/GLU,stop/GLU	0,4406		0,0,2203	231.0	204.0	213.0		1147,1147	4.3	1.0	3		213	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	383/3093,383/458	57488146	1,13005	2203	4300	6503	57463186	SO:0001587	stop_gained	201625	exon10			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1147G>T	3.37:g.57488146C>A	ENSP00000295937:p.Glu383*	Somatic		Capture	Illumina HiSeq	Phase_I	57463186	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	C	38	6.767550	0.97825	0.0	1.16E-4	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	.	.	.	5.21	4.32	0.51571	.	0.067000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.3809	0.66911	0.0:0.8522:0.1478:0.0	.	.	.	.	X	383	.	ENSP00000312554:E383X	E	-	1	0	DNAH12	57463186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.872000	0.48467	1.294000	0.44707	0.655000	0.94253	GAA		0.378	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
DENND6A	201627	broad.mit.edu	37	3	57644914	57644914	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:57644914G>T	ENST00000311128.5	-	8	770					NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A						positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.?(1)									GTACCTAAAAGAAAGACAGGA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						135.0	130.0	132.0					3																	57644914		2203	4300	6503	57619954	SO:0001627	intron_variant	201627	.			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.700-7C>A	3.37:g.57644914G>T		Somatic		Capture	Illumina HiSeq	Phase_I	57619954	.	Q7Z5T4|Q8N235|Q8TEG8	Intron	SNP	ENST00000311128.5	37	CCDS33773.1																																																																																				0.403	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
SLMAP	7871	broad.mit.edu	37	3	57817162	57817162	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:57817162G>T	ENST00000428312.1	+	2	345	c.251G>T	c.(250-252)aGa>aTa	p.R84I	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.R84I|SLMAP_ENST00000295951.3_Missense_Mutation_p.R84I|SLMAP_ENST00000449503.2_Missense_Mutation_p.R84I|SLMAP_ENST00000383718.3_Missense_Mutation_p.R84I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	84	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.R84I(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AATAGCCAGAGATTGAGTCGA	0.353																																					p.R84I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251T	3						.						67.0	68.0	68.0					3																	57817162		2203	4300	6503	57792202	SO:0001583	missense	7871	exon2			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.251G>T	3.37:g.57817162G>T	ENSP00000398661:p.Arg84Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57792202	NM_007159	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.506116	0.96386	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	6.02	6.02	0.97574	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.051649	0.85682	D	0.000000	D	0.96352	0.8810	M	0.93507	3.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;0.998	D	0.96468	0.9346	10	0.87932	D	0	-9.9703	20.5373	0.99239	0.0:0.0:1.0:0.0	.	84;84;84;84	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	I	84	ENSP00000295951:R84I;ENSP00000295952:R84I;ENSP00000373224:R84I;ENSP00000398661:R84I;ENSP00000412945:R84I	ENSP00000295951:R84I	R	+	2	0	SLMAP	57792202	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	AGA		0.353	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159	
FLNB	2317	broad.mit.edu	37	3	58067371	58067371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:58067371G>T	ENST00000295956.4	+	4	820	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	FLNB_ENST00000358537.3_Nonsense_Mutation_p.E219*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E219*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.E219*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.E219*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E219*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.E50*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.E50*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	219	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E219*(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACTCCTGAAGAAATCATTCA	0.478																																					p.E219X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G655T	3						.						138.0	130.0	133.0					3																	58067371		2203	4300	6503	58042411	SO:0001587	stop_gained	2317	exon4			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.655G>T	3.37:g.58067371G>T	ENSP00000295956:p.Glu219*	Somatic		Capture	Illumina HiSeq	Phase_I	58042411	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	41	8.760785	0.98943	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.86	5.86	0.93980	.	0.086938	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	219;219;219;219;219;219;50;50	.	ENSP00000295956:E219X	E	+	1	0	FLNB	58042411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.759000	0.98931	2.937000	0.99478	0.650000	0.86243	GAA		0.478	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	broad.mit.edu	37	3	58081884	58081884	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:58081884A>G	ENST00000295956.4	+	6	1088	c.923A>G	c.(922-924)gAc>gGc	p.D308G	FLNB_ENST00000358537.3_Missense_Mutation_p.D308G|FLNB_ENST00000348383.5_Missense_Mutation_p.D308G|FLNB_ENST00000357272.4_Missense_Mutation_p.D308G|FLNB_ENST00000490882.1_Missense_Mutation_p.D308G|FLNB_ENST00000429972.2_Missense_Mutation_p.D308G|FLNB_ENST00000493452.1_Missense_Mutation_p.D139G|FLNB_ENST00000419752.2_Missense_Mutation_p.D139G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	308					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D308G(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGACCCCTGACAGTGACAAG	0.547																																					p.D308G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A923G	3						.						95.0	77.0	83.0					3																	58081884		2203	4300	6503	58056924	SO:0001583	missense	2317	exon6			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.923A>G	3.37:g.58081884A>G	ENSP00000295956:p.Asp308Gly	Somatic		Capture	Illumina HiSeq	Phase_I	58056924	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778163	0.49786	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.77	3.33	0.38152	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.332110	0.38436	N	0.001690	T	0.51753	0.1693	N	0.24115	0.695	0.31381	N	0.679041	B;B;B;B;B;B	0.30605	0.125;0.071;0.287;0.003;0.287;0.287	B;B;B;B;B;B	0.36092	0.096;0.103;0.217;0.039;0.217;0.217	T	0.59209	-0.7497	10	0.72032	D	0.01	.	13.6896	0.62537	0.6143:0.3857:0.0:0.0	.	308;308;139;139;308;308	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	308;308;308;308;308;308;139;139	ENSP00000295956:D308G;ENSP00000420213:D308G;ENSP00000351339:D308G;ENSP00000415599:D308G;ENSP00000232447:D308G;ENSP00000349819:D308G;ENSP00000418510:D139G;ENSP00000414532:D139G	ENSP00000295956:D308G	D	+	2	0	FLNB	58056924	0.995000	0.38212	0.081000	0.20488	0.968000	0.65278	2.266000	0.43320	0.500000	0.27991	0.533000	0.62120	GAC		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	broad.mit.edu	37	3	58145286	58145286	+	Silent	SNP	G	G	A	rs141740204		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:58145286G>A	ENST00000295956.4	+	42	7059	c.6894G>A	c.(6892-6894)tcG>tcA	p.S2298S	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Silent_p.S2274S|FLNB_ENST00000348383.5_Silent_p.S2257S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.S2329S|FLNB_ENST00000429972.2_Silent_p.S2287S|FLNB_ENST00000493452.1_Silent_p.S2105S|FLNB_ENST00000419752.2_Silent_p.S2118S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2298	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S2298S(2)|p.S2329S(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTCAGGAATCGGGATTAAAAG	0.502																																					p.S2298S												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G6894A	3						.						55.0	55.0	55.0					3																	58145286		2203	4300	6503	58120326	SO:0001819	synonymous_variant	2317	exon42			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6894G>A	3.37:g.58145286G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58120326	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.502	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	broad.mit.edu	37	3	58154391	58154391	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:58154391G>A	ENST00000295956.4	+	44	7582				FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000357272.4_Intron|FLNB_ENST00000490882.1_Intron|FLNB_ENST00000429972.2_Intron|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000419752.2_Intron	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GACAGGTAACGAACAACCACC	0.507																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						79.0	66.0	71.0					3																	58154391		2203	4300	6503	58129431	SO:0001627	intron_variant	2317	.			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7417+6G>A	3.37:g.58154391G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58129431	.	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Intron	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.507	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
PDHB	5162	broad.mit.edu	37	3	58413760	58413760	+	3'UTR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:58413760A>C	ENST00000302746.6	-	0	1123				RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_3'UTR|PDHB_ENST00000474765.1_3'UTR	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta						acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	TCAAGTCCAAACTAAATATTT	0.358																																					.												.	.	0			.	3						.						46.0	46.0	46.0					3																	58413760		2203	4300	6503	58388800	SO:0001624	3_prime_UTR_variant	5162	.				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.*1T>G	3.37:g.58413760A>C		Somatic		Capture	Illumina HiSeq	Phase_I	58388800	.	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	3'UTR	SNP	ENST00000302746.6	37	CCDS2890.1																																																																																				0.358	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1		
PTPRG	5793	broad.mit.edu	37	3	62204616	62204616	+	Silent	SNP	C	C	T	rs376160752		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:62204616C>T	ENST00000474889.1	+	13	2624	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PTPRG_ENST00000295874.10_Silent_p.F749F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	749					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F749F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCTTGACCTTCGTGTGCCTCA	0.537																																					p.F749F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2247T	3						.	C		0,4406		0,0,2203	320.0	251.0	275.0		2247	3.6	1.0	3		275	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTPRG	NM_002841.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		749/1446	62204616	1,13005	2203	4300	6503	62179656	SO:0001819	synonymous_variant	5793	exon13			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2247C>T	3.37:g.62204616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62179656	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	CCDS2895.1																																																																																				0.537	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
CADPS	8618	broad.mit.edu	37	3	62385189	62385189	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:62385189G>A	ENST00000383710.4	-	30	4303	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	CADPS_ENST00000357948.3_Silent_p.I1239I|CADPS_ENST00000283269.9_Silent_p.I1279I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1318	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I1318I(1)|p.I1279I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACGGTTCCGGATCGTTTCAT	0.498																																					p.I1318I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3954T	3						.						178.0	156.0	163.0					3																	62385189		2203	4300	6503	62360229	SO:0001819	synonymous_variant	8618	exon30			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3954C>T	3.37:g.62385189G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62360229	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	1.235	-0.623083	0.03636	.	.	ENSG00000163618	ENST00000473635	.	.	.	5.86	4.98	0.66077	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55823	-0.8080	4	.	.	.	.	7.0034	0.24823	0.2041:0.1283:0.6676:0.0	.	.	.	.	F	310	.	.	S	-	2	0	CADPS	62360229	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	1.616000	0.36933	1.452000	0.47756	0.655000	0.94253	TCC		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62501758	62501758	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:62501758G>T	ENST00000383710.4	-	16	2906	c.2557C>A	c.(2557-2559)Ctc>Atc	p.L853I	CADPS_ENST00000357948.3_Missense_Mutation_p.L836I|CADPS_ENST00000283269.9_Missense_Mutation_p.L853I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	853	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L853I(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TACTCTGAGAGCCGAGAATAG	0.433																																					p.L853I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2557A	3						.						135.0	119.0	124.0					3																	62501758		2203	4300	6503	62476798	SO:0001583	missense	8618	exon16			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2557C>A	3.37:g.62501758G>T	ENSP00000373215:p.Leu853Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62476798	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.59|10.59	1.391646|1.391646	0.25118|0.25118	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.45276	.|0.9;0.97;0.92	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Calcium-dependent secretion activator (1);	.|0.150694	.|0.44483	.|D	.|0.000460	T|T	0.31263|0.31263	0.0791|0.0791	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.26258	.|0.145;0.02;0.005;0.058	.|B;B;B;B	.|0.26614	.|0.071;0.016;0.015;0.045	T|T	0.07046|0.07046	-1.0793|-1.0793	5|10	.|0.26408	.|T	.|0.33	.|.	13.5695|13.5695	0.61838|0.61838	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|836;853;853;853	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	D|I	159|853;853;836;853	.|ENSP00000373215:L853I;ENSP00000350632:L836I;ENSP00000283269:L853I	.|ENSP00000283269:L853I	A|L	-|-	2|1	0|0	CADPS|CADPS	62476798|62476798	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.998000|0.998000	0.95712|0.95712	4.579000|4.579000	0.60936|0.60936	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62570918	62570918	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:62570918C>A	ENST00000383710.4	-	8	1868	c.1519G>T	c.(1519-1521)Gat>Tat	p.D507Y	CADPS_ENST00000357948.3_Missense_Mutation_p.D507Y|CADPS_ENST00000283269.9_Missense_Mutation_p.D507Y	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D507Y(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTTTGAGATCTTGGTCGGGG	0.468																																					p.D507Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1519T	3						.						216.0	204.0	208.0					3																	62570918		2203	4300	6503	62545958	SO:0001583	missense	8618	exon8			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1519G>T	3.37:g.62570918C>A	ENSP00000373215:p.Asp507Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62545958	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760396	0.89932	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T	0.54279	0.58;0.59;0.6	5.95	5.95	0.96441	.	0.051784	0.85682	D	0.000000	T	0.71126	0.3303	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;0.999	D;D;D;D	0.87578	0.959;0.998;0.997;0.967	T	0.71080	-0.4696	10	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	507;507;507;507	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	Y	507;507;507;507;2	ENSP00000373215:D507Y;ENSP00000350632:D507Y;ENSP00000283269:D507Y	ENSP00000283269:D507Y	D	-	1	0	CADPS	62545958	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.818000	0.86416	2.826000	0.97356	0.563000	0.77884	GAT		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62636721	62636721	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:62636721A>G	ENST00000383710.4	-	5	1353	c.1004T>C	c.(1003-1005)aTg>aCg	p.M335T	CADPS_ENST00000357948.3_Missense_Mutation_p.M335T|CADPS_ENST00000283269.9_Missense_Mutation_p.M335T|CADPS_ENST00000490353.2_Missense_Mutation_p.M335T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	335					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.M335T(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATGTTTTCCATTTCTTTGGA	0.428																																					p.M335T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1004C	3						.						121.0	119.0	120.0					3																	62636721		2203	4300	6503	62611761	SO:0001583	missense	8618	exon5			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1004T>C	3.37:g.62636721A>G	ENSP00000373215:p.Met335Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62611761	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207112	0.79127	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;D	0.85088	0.64;0.66;0.65;-1.94	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.81341	2.54	0.80722	D	1	D;P;D	0.76494	0.999;0.918;0.973	D;P;P	0.83275	0.996;0.884;0.885	D	0.93476	0.6823	10	0.87932	D	0	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	335;335;335	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	335	ENSP00000373215:M335T;ENSP00000350632:M335T;ENSP00000283269:M335T;ENSP00000418736:M335T	ENSP00000283269:M335T	M	-	2	0	CADPS	62611761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.228000	0.72767	0.533000	0.62120	ATG		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
PRICKLE2	166336	broad.mit.edu	37	3	64132810	64132810	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:64132810G>A	ENST00000295902.6	-	7	1941	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	PRICKLE2_ENST00000564377.1_Silent_p.S508S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	452					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S452S(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGTGACGAGCTCCTTTTGG	0.562																																					p.S452S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1356T	3						.						84.0	88.0	87.0					3																	64132810		2203	4300	6503	64107850	SO:0001819	synonymous_variant	166336	exon7			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1356C>T	3.37:g.64132810G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64107850	NM_198859	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																				0.562	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
ADAMTS9	56999	broad.mit.edu	37	3	64599145	64599145	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:64599145A>G	ENST00000498707.1	-	22	3572	c.3230T>C	c.(3229-3231)gTc>gCc	p.V1077A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1049A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1077	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1077A(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGACACCAGACCTGGCGGTG	0.483																																					p.V1077A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3230C	3						.						92.0	86.0	88.0					3																	64599145		2203	4300	6503	64574185	SO:0001583	missense	56999	exon22			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3230T>C	3.37:g.64599145A>G	ENSP00000418735:p.Val1077Ala	Somatic		Capture	Illumina HiSeq	Phase_I	64574185	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.33|16.33	3.093615|3.093615	0.56075|0.56075	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.53640	.|0.61;0.61	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.158468	.|0.42420	.|D	.|0.000701	T|T	0.58963|0.58963	0.2159|0.2159	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.36438	.|0.553;0.459;0.201	.|P;B;B	.|0.46629	.|0.522;0.225;0.129	T|T	0.62803|0.62803	-0.6777|-0.6777	5|10	.|0.46703	.|T	.|0.11	.|.	8.3123|8.3123	0.32080|0.32080	0.85:0.0:0.15:0.0|0.85:0.0:0.15:0.0	.|.	.|1049;1077;1077	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	P|A	133|1049;1077	.|ENSP00000295903:V1049A;ENSP00000418735:V1077A	.|ENSP00000295903:V1049A	S|V	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64574185|64574185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	5.108000|5.108000	0.64609|0.64609	2.231000|2.231000	0.72958|0.72958	0.533000|0.533000	0.62120|0.62120	TCT|GTC		0.483	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ADAMTS9	56999	broad.mit.edu	37	3	64608122	64608122	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:64608122G>A	ENST00000498707.1	-	17	2872	c.2530C>T	c.(2530-2532)Cgc>Tgc	p.R844C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R816C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	844	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R844C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCTCAATGCGATCTGTTGAG	0.458																																					p.R844C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2530T	3						.						129.0	128.0	128.0					3																	64608122		2203	4300	6503	64583162	SO:0001583	missense	56999	exon17			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2530C>T	3.37:g.64608122G>A	ENSP00000418735:p.Arg844Cys	Somatic		Capture	Illumina HiSeq	Phase_I	64583162	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128227	0.56721	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.52057	0.68;0.68	5.85	5.85	0.93711	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.988;0.995;0.972;0.977	T	0.75878	-0.3162	10	0.72032	D	0.01	.	13.3785	0.60754	0.0715:0.0:0.9284:0.0	.	816;844;844;844	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	816;844	ENSP00000295903:R816C;ENSP00000418735:R844C	ENSP00000295903:R816C	R	-	1	0	ADAMTS9	64583162	1.000000	0.71417	0.957000	0.39632	0.025000	0.11179	9.869000	0.99810	2.767000	0.95098	0.557000	0.71058	CGC		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ADAMTS9	56999	broad.mit.edu	37	3	64619566	64619566	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:64619566A>C	ENST00000498707.1	-	13	2199				ADAMTS9_ENST00000295903.4_Intron	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGAAAAAGAAAAAATGTGAA	0.398																																					.												.	.	0			.	3						.						42.0	40.0	41.0					3																	64619566		2203	4300	6503	64594606	SO:0001627	intron_variant	56999	.			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1857-11T>G	3.37:g.64619566A>C		Somatic		Capture	Illumina HiSeq	Phase_I	64594606	.	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Intron	SNP	ENST00000498707.1	37	CCDS2903.1																																																																																				0.398	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
LRIG1	26018	broad.mit.edu	37	3	66431247	66431247	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:66431247C>T	ENST00000273261.3	-	18	3333	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.E914K|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	937					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E937K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CAGTCCACTTCGGTGTTGCAG	0.612																																					p.E937K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2809A	3						.						60.0	63.0	62.0					3																	66431247		2203	4300	6503	66513937	SO:0001583	missense	26018	exon18			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2809G>A	3.37:g.66431247C>T	ENSP00000273261:p.Glu937Lys	Somatic		Capture	Illumina HiSeq	Phase_I	66513937	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148834	0.37923	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.62941	-0.01;0.06	5.81	4.76	0.60689	.	1.355350	0.04578	N	0.394487	T	0.47060	0.1425	N	0.22421	0.69	0.09310	N	1	B;B;B	0.27316	0.049;0.175;0.029	B;B;B	0.23275	0.045;0.03;0.012	T	0.33803	-0.9854	10	0.10377	T	0.69	.	8.7708	0.34731	0.0:0.8581:0.0:0.1419	.	914;937;937	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	K	937;914;840	ENSP00000273261:E937K;ENSP00000373208:E914K	ENSP00000273261:E937K	E	-	1	0	LRIG1	66513937	0.001000	0.12720	0.034000	0.17996	0.004000	0.04260	0.574000	0.23714	2.756000	0.94617	0.585000	0.79938	GAA		0.612	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
TMF1	7110	broad.mit.edu	37	3	69092915	69092915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:69092915C>T	ENST00000398559.2	-	4	1780	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D525N|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	522					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.D522N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTAGCAGCATCTCTCTCTTTG	0.313																																					p.D522N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1564A	3						.						72.0	64.0	66.0					3																	69092915		1793	4075	5868	69175605	SO:0001583	missense	7110	exon4				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1564G>A	3.37:g.69092915C>T	ENSP00000381567:p.Asp522Asn	Somatic		Capture	Illumina HiSeq	Phase_I	69175605	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313954	0.95655	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	D;D	0.81821	-1.54;-1.54	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90333	0.4353	10	0.72032	D	0.01	-25.145	19.8362	0.96658	0.0:1.0:0.0:0.0	.	525;522	P82094-2;P82094	.;TMF1_HUMAN	N	522;525;438;522	ENSP00000381567:D522N;ENSP00000438706:D525N	ENSP00000348582:D438N	D	-	1	0	TMF1	69175605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.690000	0.91761	0.563000	0.77884	GAT		0.313	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
UBA3	9039	broad.mit.edu	37	3	69104682	69104682	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:69104682A>G	ENST00000361055.4	-	18	1358				UBA3_ENST00000349511.4_Intron|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000415609.2_Intron|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3						cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CAATTCTAAAACAGAAAAAAT	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						41.0	44.0	43.0					3																	69104682		2200	4299	6499	69187372	SO:0001627	intron_variant	9039	.			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1304-6T>C	3.37:g.69104682A>G		Somatic		Capture	Illumina HiSeq	Phase_I	69187372	.	A6NLB5|A8K027|O76088|Q9NTU3	Intron	SNP	ENST00000361055.4	37	CCDS2909.1																																																																																				0.333	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	
MITF	4286	broad.mit.edu	37	3	69988315	69988315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:69988315C>T	ENST00000448226.2	+	4	776	c.649C>T	c.(649-651)Cga>Tga	p.R217*	MITF_ENST00000394351.3_Nonsense_Mutation_p.R110*|MITF_ENST00000472437.1_Nonsense_Mutation_p.R165*|MITF_ENST00000352241.4_Nonsense_Mutation_p.R217*|MITF_ENST00000314589.5_Nonsense_Mutation_p.R201*|MITF_ENST00000328528.6_Nonsense_Mutation_p.R216*|MITF_ENST00000531774.1_Nonsense_Mutation_p.R54*|MITF_ENST00000314557.6_Nonsense_Mutation_p.R110*|MITF_ENST00000394355.2_Nonsense_Mutation_p.R192*			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	217					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.R110*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CACACATTCACGAGCGTCCTG	0.428			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														p.R54X	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C160T	3						.						94.0	90.0	91.0					3																	69988315		2203	4300	6503	70071005	SO:0001587	stop_gained	4286	exon3				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.649C>T	3.37:g.69988315C>T	ENSP00000391803:p.Arg217*	Somatic		Capture	Illumina HiSeq	Phase_I	70071005	NM_198178	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Nonsense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.374318	0.82573	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000433517;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	.	.	.	5.99	4.15	0.48705	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0141	0.42003	0.1454:0.7853:0.0:0.0693	.	.	.	.	X	217;217;109;165;216;201;201;192;110;110;54	.	.	R	+	1	2	MITF	70071005	0.993000	0.37304	0.718000	0.30602	0.745000	0.42441	3.275000	0.51639	0.803000	0.34113	-0.150000	0.13652	CGA		0.428	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
FOXP1	27086	broad.mit.edu	37	3	71026106	71026106	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:71026106C>T	ENST00000318789.4	-	17	2041	c.1516G>A	c.(1516-1518)Gcg>Acg	p.A506T	FOXP1_ENST00000475937.1_Missense_Mutation_p.A506T|FOXP1_ENST00000491238.1_Missense_Mutation_p.A508T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A506T|FOXP1_ENST00000484350.1_Missense_Mutation_p.A430T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A505T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A506T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	506					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A506T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CACGTGGCCGCGTTGCGTCGG	0.428			T	PAX5	ALL																																p.A506T			Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1516A	3						.						142.0	129.0	133.0					3																	71026106		2203	4300	6503	71108796	SO:0001583	missense	27086	exon17			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1516G>A	3.37:g.71026106C>T	ENSP00000318902:p.Ala506Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71108796	NM_032682	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535252	0.64972	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.94391	0.8196	N	0.16098	0.37	0.80722	D	1	B;D;D;P	0.89917	0.422;1.0;0.957;0.889	B;D;B;B	0.77557	0.252;0.99;0.34;0.252	D	0.92682	0.6159	10	0.23891	T	0.37	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	505;505;430;506	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	T	506;318;506;402;508;505;506;430;506	ENSP00000318902:A506T;ENSP00000419393:A506T;ENSP00000418225:A402T;ENSP00000420736:A508T;ENSP00000418524:A505T;ENSP00000418102:A506T;ENSP00000417857:A430T;ENSP00000418883:A506T	ENSP00000318902:A506T	A	-	1	0	FOXP1	71108796	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GCG		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
FOXP1	27086	broad.mit.edu	37	3	71050219	71050219	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:71050219A>C	ENST00000318789.4	-	13	1500				FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000491238.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000498215.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCTGCAACAATACATAGAAA	0.413			T	PAX5	ALL																																.			Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	.	1	Unknown(1)	large_intestine(1)	.	3						.						104.0	88.0	93.0					3																	71050219		2203	4300	6503	71132909	SO:0001627	intron_variant	27086	.			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.975-9T>G	3.37:g.71050219A>C		Somatic		Capture	Illumina HiSeq	Phase_I	71132909	.	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Intron	SNP	ENST00000318789.4	37	CCDS2914.1																																																																																				0.413	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
RYBP	23429	broad.mit.edu	37	3	72427676	72427676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:72427676A>G	ENST00000477973.2	-	4	811	c.812T>C	c.(811-813)aTc>aCc	p.I271T		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGGATGAGGATGTCGATGAG	0.557																																					p.S173P												.	.	0			c.T517C	3						.						118.0	118.0	118.0					3																	72427676		2160	4253	6413	72510366	SO:0001583	missense	23429	exon4			AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.812T>C	3.37:g.72427676A>G	ENSP00000419494:p.Ile271Thr	Somatic		Capture	Illumina HiSeq	Phase_I	72510366	NM_012234	Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37		.	.	.	.	.	.	.	.	.	.	A	14.39	2.520275	0.44866	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.73567	0.3603	M	0.68593	2.085	.	.	.	.	.	.	.	.	.	T	0.73560	-0.3944	4	.	.	.	-9.7215	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	T	271	.	.	I	-	2	0	RYBP	72510366	1.000000	0.71417	0.942000	0.38095	0.758000	0.43043	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	ATC		0.557	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234	
SHQ1	55164	broad.mit.edu	37	3	72866547	72866547	+	Intron	SNP	C	C	T	rs143817249	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:72866547C>T	ENST00000325599.8	-	7	867				SHQ1_ENST00000463369.1_Intron	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor						negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TAGAAGAAAACGCATTTAAAA	0.323													C|||	16	0.00319489	0.0	0.0058	5008	,	,		19214	0.0109		0.0	False		,,,				2504	0.001				.												.	.	0			.	3						.	C		0,4400		0,0,2200	44.0	44.0	44.0			-8.6	0.0	3	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	no	intron	SHQ1	NM_018130.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077			72866547	1,12997	2200	4299	6499	72949237	SO:0001627	intron_variant	55164	.			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.728-12G>A	3.37:g.72866547C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72949237	.	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Intron	SNP	ENST00000325599.8	37	CCDS33788.1																																																																																				0.323	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
SHQ1	55164	broad.mit.edu	37	3	72890312	72890312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:72890312C>A	ENST00000325599.8	-	4	509	c.370G>T	c.(370-372)Gag>Tag	p.E124*	SHQ1_ENST00000463369.1_Nonsense_Mutation_p.E96*	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	124					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E124*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CAATCAAACTCTTCATCGTCA	0.383																																					p.E124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G370T	3						.						111.0	101.0	105.0					3																	72890312		2203	4300	6503	72973002	SO:0001587	stop_gained	55164	exon4			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.370G>T	3.37:g.72890312C>A	ENSP00000315182:p.Glu124*	Somatic		Capture	Illumina HiSeq	Phase_I	72973002	NM_018130	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Nonsense_Mutation	SNP	ENST00000325599.8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400880	0.62177	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	.	.	.	5.0	5.0	0.66597	.	0.266424	0.41712	D	0.000828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-2.6938	17.4368	0.87554	0.0:1.0:0.0:0.0	.	.	.	.	X	124;96;35	.	ENSP00000315182:E124X	E	-	1	0	SHQ1	72973002	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	6.500000	0.73687	2.473000	0.83533	0.585000	0.79938	GAG		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
GXYLT2	727936	broad.mit.edu	37	3	73004260	73004260	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:73004260G>T	ENST00000389617.4	+	4	773	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	204					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.K204N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TGATTTTAAAGGATGTGGACT	0.453																																					p.K204N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G612T	3						.						61.0	59.0	60.0					3																	73004260		1920	4140	6060	73086950	SO:0001583	missense	727936	exon4			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.612G>T	3.37:g.73004260G>T	ENSP00000374268:p.Lys204Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73086950	NM_001080393		Missense_Mutation	SNP	ENST00000389617.4	37	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464735	0.43736	.	.	ENSG00000172986	ENST00000389617;ENST00000498315	T;T	0.22539	1.95;1.95	5.33	3.55	0.40652	.	0.148821	0.64402	D	0.000015	T	0.28566	0.0707	M	0.66939	2.045	0.46167	D	0.998905	P	0.41188	0.741	P	0.48334	0.574	T	0.02087	-1.1216	10	0.31617	T	0.26	.	7.7599	0.28946	0.3093:0.0:0.6907:0.0	.	204	A0PJZ3	GXLT2_HUMAN	N	204;78	ENSP00000374268:K204N;ENSP00000417239:K78N	ENSP00000374268:K204N	K	+	3	2	GXYLT2	73086950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.946000	0.40283	0.831000	0.34780	0.655000	0.94253	AAG		0.453	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393	
PPP4R2	151987	broad.mit.edu	37	3	73112849	73112849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:73112849C>T	ENST00000356692.5	+	6	698	c.445C>T	c.(445-447)Cga>Tga	p.R149*	PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.R92*|PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.R93*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	149					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.R149*(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TAGTTTAAATCGAATGAATGG	0.343																																					p.R149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C445T	3						.						56.0	58.0	58.0					3																	73112849		2202	4300	6502	73195539	SO:0001587	stop_gained	151987	exon6			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.445C>T	3.37:g.73112849C>T	ENSP00000349124:p.Arg149*	Somatic		Capture	Illumina HiSeq	Phase_I	73195539	NM_174907	A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Nonsense_Mutation	SNP	ENST00000356692.5	37	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	C	37	6.581974	0.97680	.	.	ENSG00000163605	ENST00000356692;ENST00000394284;ENST00000295862	.	.	.	5.11	1.81	0.25067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7881	0.69819	0.4855:0.5145:0.0:0.0	.	.	.	.	X	149;92;93	.	ENSP00000295862:R93X	R	+	1	2	PPP4R2	73195539	0.993000	0.37304	0.999000	0.59377	0.998000	0.95712	0.739000	0.26173	0.067000	0.16545	0.591000	0.81541	CGA		0.343	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907	
ROBO2	6092	broad.mit.edu	37	3	77530268	77530268	+	Missense_Mutation	SNP	A	A	G	rs201584681		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:77530268A>G	ENST00000461745.1	+	4	1465	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	ROBO2_ENST00000332191.8_Missense_Mutation_p.M189V|ROBO2_ENST00000487694.3_Missense_Mutation_p.M205V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	189	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.M189V(1)|p.M205V(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGAAAACTGATGATCTCCAA	0.383																																					p.D169G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A506G	3						.						153.0	148.0	150.0					3																	77530268		1839	4091	5930	77612958	SO:0001583	missense	6092	exon3			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.565A>G	3.37:g.77530268A>G	ENSP00000417164:p.Met189Val	Somatic		Capture	Illumina HiSeq	Phase_I	77612958	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341530	0.81911	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.65732	-0.17;-0.17;-0.17	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.222863	0.30575	N	0.009324	T	0.40595	0.1123	N	0.02368	-0.58	0.32778	N	0.502845	P;P;P	0.48834	0.873;0.916;0.873	B;B;B	0.42319	0.383;0.264;0.383	T	0.59490	-0.7445	9	0.42905	T	0.14	.	16.2046	0.82114	1.0:0.0:0.0:0.0	.	205;189;189	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	205;205;205;189;189	ENSP00000417335:M205V;ENSP00000417164:M189V;ENSP00000327536:M189V	ENSP00000327536:M189V	M	+	1	0	ROBO2	77612958	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.216000	0.71823	0.533000	0.62120	ATG		0.383	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77623753	77623753	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:77623753C>T	ENST00000461745.1	+	14	2975	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P692L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P708L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	692	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.P692L(1)|p.P708L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCAAAGTCCCGACTGAACGA	0.453																																					p.P692L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2075T	3						.						94.0	84.0	87.0					3																	77623753		1898	4128	6026	77706443	SO:0001583	missense	6092	exon14			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2075C>T	3.37:g.77623753C>T	ENSP00000417164:p.Pro692Leu	Somatic		Capture	Illumina HiSeq	Phase_I	77706443	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792872	0.70452	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58210	0.35;0.35;0.35	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.155915	0.29602	N	0.011696	T	0.63010	0.2475	M	0.73217	2.22	0.44337	D	0.997225	D;D;D	0.55605	0.972;0.965;0.972	P;P;P	0.47573	0.512;0.55;0.512	T	0.67616	-0.5625	9	0.66056	D	0.02	.	20.0713	0.97726	0.0:1.0:0.0:0.0	.	708;692;692	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	708;708;712;692;692;413	ENSP00000417335:P708L;ENSP00000417164:P692L;ENSP00000327536:P692L	ENSP00000327536:P692L	P	+	2	0	ROBO2	77706443	1.000000	0.71417	0.911000	0.35937	0.076000	0.17211	7.815000	0.86186	2.752000	0.94435	0.585000	0.79938	CCG		0.453	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77666807	77666807	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:77666807G>A	ENST00000461745.1	+	22	4337	c.3437G>A	c.(3436-3438)gGa>gAa	p.G1146E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G1146E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1162E|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1146					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.G1162E(1)|p.G1146E(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCTCCTTTGGACAGCAGTCC	0.507																																					p.W1126X												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3378A	3						.						95.0	94.0	94.0					3																	77666807		2037	4194	6231	77749497	SO:0001583	missense	6092	exon21			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3437G>A	3.37:g.77666807G>A	ENSP00000417164:p.Gly1146Glu	Somatic		Capture	Illumina HiSeq	Phase_I	77749497	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.796795|3.796795	0.70567|0.70567	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.70164	.|-0.46;-0.42;-0.19	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.45126	.|D	.|0.000386	T|T	0.81240|0.81240	0.4781|0.4781	L|L	0.61218|0.61218	1.895|1.895	.|.	.|.	.|.	.|D;P;P	.|0.89917	.|1.0;0.921;0.842	.|D;P;B	.|0.87578	.|0.998;0.497;0.236	T|T	0.82317|0.82317	-0.0517|-0.0517	4|9	.|0.87932	.|D	.|0	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1162;1146;1146	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	N|E	303|1162;1162;1146;1146	.|ENSP00000417335:G1162E;ENSP00000417164:G1146E;ENSP00000327536:G1146E	.|ENSP00000327536:G1146E	D|G	+|+	1|2	0|0	ROBO2|ROBO2	77749497|77749497	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.927000|0.927000	0.56198|0.56198	9.476000|9.476000	0.97823|0.97823	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.507	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77693869	77693869	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:77693869C>T	ENST00000461745.1	+	25	4849	c.3949C>T	c.(3949-3951)Ccc>Tcc	p.P1317S	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1378S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1333S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1317					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.P1317S(1)|p.P1333S(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCCTTGGTGCCCTATAGCAA	0.448																																					p.A1297V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3890T	3						.						61.0	61.0	61.0					3																	77693869		1917	4119	6036	77776559	SO:0001583	missense	6092	exon24			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3949C>T	3.37:g.77693869C>T	ENSP00000417164:p.Pro1317Ser	Somatic		Capture	Illumina HiSeq	Phase_I	77776559	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466128|4.466128	0.84425|0.84425	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|D;D;D	.|0.92911	.|-2.9;-2.83;-3.13	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.45606	.|D	.|0.000343	D|D	0.95370|0.95370	0.8497|0.8497	L|L	0.55213|0.55213	1.73|1.73	.|.	.|.	.|.	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.998;0.994	D|D	0.95271|0.95271	0.8377|0.8377	4|9	.|0.87932	.|D	.|0	.|.	20.168|20.168	0.98156|0.98156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1333;1378;1317	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	V|S	148;136|1333;1333;1317;1378	.|ENSP00000417335:P1333S;ENSP00000417164:P1317S;ENSP00000327536:P1378S	.|ENSP00000327536:P1378S	A|P	+|+	2|1	0|0	ROBO2|ROBO2	77776559|77776559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	7.251000|7.251000	0.78297|0.78297	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78695291	78695291	+	Intron	SNP	T	T	G	rs372283898	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:78695291T>G	ENST00000464233.1	-	21	2996				ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Intron|ROBO1_ENST00000495273.1_Intron	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.?(3)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACAAGCAAGATAATTACCTCC	0.353													T|||	2	0.000399361	0.0	0.0	5008	,	,		14713	0.0		0.002	False		,,,				2504	0.0				.												.	.	3	Unknown(3)	large_intestine(3)	.	3						.	T	,,	0,3772		0,0,1886	121.0	121.0	121.0		,,	4.2	1.0	3		121	1,8205		0,1,4102	no	intron,intron,intron	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	0,1,5988	GG,GT,TT		0.0122,0.0,0.0083	,,	,,	78695291	1,11977	1886	4103	5989	78777981	SO:0001627	intron_variant	6091	.			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2882+6A>C	3.37:g.78695291T>G		Somatic		Capture	Illumina HiSeq	Phase_I	78777981	.	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Intron	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.353	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78735023	78735023	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:78735023A>C	ENST00000464233.1	-	10	1328	c.1215T>G	c.(1213-1215)ttT>ttG	p.F405L	ROBO1_ENST00000467549.1_Missense_Mutation_p.F369L|ROBO1_ENST00000436010.2_Missense_Mutation_p.F366L|ROBO1_ENST00000495273.1_Missense_Mutation_p.F369L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	405	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.F405L(1)|p.F369L(1)|p.F382L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGAGACTGAAAATCGGCTGG	0.408																																					p.F405L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T1215G	3						.						53.0	54.0	53.0					3																	78735023		1909	4101	6010	78817713	SO:0001583	missense	6091	exon10			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1215T>G	3.37:g.78735023A>C	ENSP00000420321:p.Phe405Leu	Somatic		Capture	Illumina HiSeq	Phase_I	78817713	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362810	0.24684	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.42	1.77	0.24775	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.095010	0.64402	D	0.000001	T	0.54532	0.1864	N	0.21282	0.65	0.48288	D	0.999627	P;P;B;P;P	0.40032	0.576;0.576;0.095;0.576;0.699	B;B;B;B;P	0.46796	0.255;0.208;0.085;0.147;0.527	T	0.42241	-0.9463	9	.	.	.	.	8.2551	0.31751	0.706:0.0:0.294:0.0	.	369;405;369;369;366	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	L	366;369;405;369;369;405	ENSP00000406043:F366L;ENSP00000420321:F405L;ENSP00000420637:F369L;ENSP00000417992:F369L	.	F	-	3	2	ROBO1	78817713	1.000000	0.71417	0.961000	0.40146	0.331000	0.28603	1.086000	0.30853	0.446000	0.26666	-0.371000	0.07208	TTT		0.408	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78766551	78766551	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:78766551A>C	ENST00000464233.1	-	7	904	c.791T>G	c.(790-792)tTt>tGt	p.F264C	ROBO1_ENST00000467549.1_Missense_Mutation_p.F225C|ROBO1_ENST00000436010.2_Missense_Mutation_p.F225C|ROBO1_ENST00000495273.1_Missense_Mutation_p.F225C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	264	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.F225C(1)|p.F264C(1)|p.F241C(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCTTCACAAATGATGGTCT	0.378																																					p.F264C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T791G	3						.						127.0	119.0	121.0					3																	78766551		1834	4089	5923	78849241	SO:0001583	missense	6091	exon7			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.791T>G	3.37:g.78766551A>C	ENSP00000420321:p.Phe264Cys	Somatic		Capture	Illumina HiSeq	Phase_I	78849241	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303924	0.81136	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93011	0.6432	9	.	.	.	.	15.944	0.79779	1.0:0.0:0.0:0.0	.	264;225;225;225	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	C	225;225;264;225;225;264	ENSP00000406043:F225C;ENSP00000420321:F264C;ENSP00000420637:F225C;ENSP00000417992:F225C	.	F	-	2	0	ROBO1	78849241	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.730000	0.91510	2.170000	0.68504	0.379000	0.24179	TTT		0.378	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
GBE1	2632	broad.mit.edu	37	3	81754705	81754705	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:81754705T>G	ENST00000429644.2	-	2	846	c.203A>C	c.(202-204)aAg>aCg	p.K68T	GBE1_ENST00000489715.1_Missense_Mutation_p.K27T	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	68					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.K68T(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCTGGAAAACTTATCAATACC	0.373									Glycogen Storage Disease, type IV																												p.K68T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A203C	3						.						51.0	47.0	49.0					3																	81754705		1848	4087	5935	81837395	SO:0001583	missense	2632	exon2	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.203A>C	3.37:g.81754705T>G	ENSP00000410833:p.Lys68Thr	Somatic		Capture	Illumina HiSeq	Phase_I	81837395	NM_000158	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991276	0.35131	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18960	2.18;2.19	5.68	1.96	0.26148	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.101830	0.64402	D	0.000003	T	0.17577	0.0422	L	0.47190	1.495	0.32181	N	0.580295	B;B	0.12013	0.005;0.001	B;B	0.12156	0.004;0.007	T	0.09930	-1.0652	10	0.39692	T	0.17	-10.0489	9.4614	0.38787	0.0:0.2064:0.0:0.7936	.	27;68	E9PGM4;Q04446	.;GLGB_HUMAN	T	68;119;27	ENSP00000410833:K68T;ENSP00000419638:K27T	ENSP00000264326:K119T	K	-	2	0	GBE1	81837395	0.993000	0.37304	0.997000	0.53966	0.970000	0.65996	1.621000	0.36986	0.098000	0.17522	0.460000	0.39030	AAG		0.373	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
CHMP2B	25978	broad.mit.edu	37	3	87302547	87302547	+	Intron	SNP	C	C	T	rs199499269		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:87302547C>T	ENST00000263780.4	+	5	662				CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000472024.1_Intron	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B						cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.?(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTCCCATATCCCCTAGTCAA	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						99.0	92.0	95.0					3																	87302547		2203	4299	6502	87385237	SO:0001627	intron_variant	25978	.			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.425-7C>T	3.37:g.87302547C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87385237	.	B4DJG8|Q53HC7|Q9Y4U6	Intron	SNP	ENST00000263780.4	37	CCDS2918.1																																																																																				0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043	
POU1F1	5449	broad.mit.edu	37	3	87309052	87309052	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:87309052A>G	ENST00000350375.2	-	6	992	c.868T>C	c.(868-870)Tgc>Cgc	p.C290R	POU1F1_ENST00000344265.3_Missense_Mutation_p.C316R|POU1F1_ENST00000560656.1_3'UTR	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	290					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C290R(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TCTTATCTGCACTCAAGATGT	0.343																																					p.C316R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T946C	3						.						67.0	72.0	71.0					3																	87309052		2200	4299	6499	87391742	SO:0001583	missense	5449	exon6			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.868T>C	3.37:g.87309052A>G	ENSP00000263781:p.Cys290Arg	Somatic		Capture	Illumina HiSeq	Phase_I	87391742	NM_001122757	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947858	0.53186	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89875	-2.58;-2.58	6.05	6.05	0.98169	.	0.118254	0.64402	D	0.000007	D	0.93145	0.7817	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	D	0.93690	0.7006	10	0.87932	D	0	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	316;290	P28069-2;P28069	.;PIT1_HUMAN	R	290;316	ENSP00000263781:C290R;ENSP00000342931:C316R	ENSP00000342931:C316R	C	-	1	0	POU1F1	87391742	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	5.858000	0.69532	2.320000	0.78422	0.528000	0.53228	TGC		0.343	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
POU1F1	5449	broad.mit.edu	37	3	87310438	87310438	+	Missense_Mutation	SNP	C	C	T	rs374853152		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:87310438C>T	ENST00000350375.2	-	5	774	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	POU1F1_ENST00000344265.3_Missense_Mutation_p.R243Q|POU1F1_ENST00000560656.1_Intron	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	217					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R217Q(2)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGTTGTTCTTCGTTTTCTTTT	0.289																																					p.R243Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G728A	3						.	C	GLN/ARG,GLN/ARG	0,4396		0,0,2198	64.0	61.0	62.0		650,728	6.0	1.0	3		62	1,8583		0,1,4291	no	missense,missense	POU1F1	NM_000306.2,NM_001122757.1	43,43	0,1,6489	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	217/292,243/318	87310438	1,12979	2198	4292	6490	87393128	SO:0001583	missense	5449	exon5			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.650G>A	3.37:g.87310438C>T	ENSP00000263781:p.Arg217Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87393128	NM_001122757	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434295	0.83776	0.0	1.16E-4	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.96200	-3.94;-3.94	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.100170	0.64402	D	0.000004	D	0.97374	0.9141	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.98	D	0.97461	1.0034	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	243;217	P28069-2;P28069	.;PIT1_HUMAN	Q	217;243	ENSP00000263781:R217Q;ENSP00000342931:R243Q	ENSP00000342931:R243Q	R	-	2	0	POU1F1	87393128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.367000	0.73099	2.836000	0.97738	0.655000	0.94253	CGA		0.289	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
ZNF654	55279	broad.mit.edu	37	3	88188773	88188773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:88188773G>T	ENST00000309495.5	+	1	520	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E66*(1)|p.E105*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGGAAACAAAGAAGTCATCCC	0.343																																					p.E105X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G313T	3						.						48.0	50.0	49.0					3																	88188773		1889	4119	6008	88271463	SO:0001587	stop_gained	55279	exon1			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.313G>T	3.37:g.88188773G>T	ENSP00000312141:p.Glu105*	Somatic		Capture	Illumina HiSeq	Phase_I	88271463	NM_018293	Q9H791|Q9NV14	Nonsense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556837	0.45590	.	.	ENSG00000175105	ENST00000309495	.	.	.	5.14	5.14	0.70334	.	0.931331	0.09076	N	0.852065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	14.4278	0.67227	0.0:0.1589:0.8411:0.0	.	.	.	.	X	105	.	ENSP00000312141:E105X	E	+	1	0	ZNF654	88271463	0.190000	0.23276	0.915000	0.36163	0.203000	0.24098	0.839000	0.27586	2.565000	0.86533	0.555000	0.69702	GAA		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293	
EPHA3	2042	broad.mit.edu	37	3	89259138	89259138	+	Missense_Mutation	SNP	G	G	T	rs369150999		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:89259138G>T	ENST00000336596.2	+	3	507	c.282G>T	c.(280-282)aaG>aaT	p.K94N	EPHA3_ENST00000494014.1_Missense_Mutation_p.K94N|EPHA3_ENST00000452448.2_Missense_Mutation_p.K94N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	94	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.K94N(2)|p.K94K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGCTCAGAAGATTTATGTGG	0.453										TSP Lung(6;0.00050)																											p.K94N												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(2)|skin(1)	c.G282T	3						.	G	ASN/LYS,ASN/LYS	1,4405	2.1+/-5.4	0,1,2202	96.0	95.0	95.0		282,282	3.5	1.0	3		95	0,8600		0,0,4300	no	missense,missense	EPHA3	NM_005233.5,NM_182644.2	94,94	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	94/984,94/540	89259138	1,13005	2203	4300	6503	89341828	SO:0001583	missense	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.282G>T	3.37:g.89259138G>T	ENSP00000337451:p.Lys94Asn	Somatic		Capture	Illumina HiSeq	Phase_I	89341828	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423051	0.62733	2.27E-4	0.0	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.03951	3.75;3.75;3.75	5.34	3.55	0.40652	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.31926	0.97	0.54753	D	0.999984	D;P	0.69078	0.997;0.93	D;P	0.80764	0.994;0.736	T	0.07424	-1.0773	9	.	.	.	.	11.6439	0.51250	0.1447:0.0:0.8553:0.0	.	94;94	P29320;P29320-2	EPHA3_HUMAN;.	N	94	ENSP00000337451:K94N;ENSP00000399926:K94N;ENSP00000419190:K94N	.	K	+	3	2	EPHA3	89341828	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.948000	0.56660	0.629000	0.30376	0.563000	0.77884	AAG		0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPHA3	2042	broad.mit.edu	37	3	89259477	89259477	+	Silent	SNP	G	G	A	rs200567888	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:89259477G>A	ENST00000336596.2	+	3	846	c.621G>A	c.(619-621)aaG>aaA	p.K207K	EPHA3_ENST00000494014.1_Silent_p.K207K|EPHA3_ENST00000452448.2_Silent_p.K207K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	207	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		K -> N (in a pancreatic ductal adenocarcinoma sample; somatic mutation; dbSNP:rs200567888). {ECO:0000269|PubMed:20838624}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.K207K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTACAGTGAAGAATCTGGCTA	0.448										TSP Lung(6;0.00050)																											p.K207K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G621A	3						.						141.0	132.0	135.0					3																	89259477		2203	4300	6503	89342167	SO:0001819	synonymous_variant	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.621G>A	3.37:g.89259477G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89342167	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
PROS1	5627	broad.mit.edu	37	3	93624742	93624742	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:93624742C>T	ENST00000394236.3	-	6	803	c.487G>A	c.(487-489)Gat>Aat	p.D163N	PROS1_ENST00000407433.1_Missense_Mutation_p.D32N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	163	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.D163N(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTTGAGGGATCTTTGCATTCA	0.323																																					p.D163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	3						.						73.0	75.0	74.0					3																	93624742		2192	4293	6485	95107432	SO:0001583	missense	5627	exon6				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.487G>A	3.37:g.93624742C>T	ENSP00000377783:p.Asp163Asn	Somatic		Capture	Illumina HiSeq	Phase_I	95107432	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645554	0.47258	.	.	ENSG00000184500	ENST00000394236;ENST00000407433;ENST00000348974;ENST00000472684	D;D;D;D	0.95482	-2.21;-2.21;-3.72;-2.99	4.44	2.64	0.31445	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.109437	0.64402	N	0.000012	D	0.90007	0.6880	L	0.39085	1.19	0.47037	D	0.999291	B	0.24882	0.113	B	0.21151	0.033	T	0.82170	-0.0590	10	0.14252	T	0.57	.	9.6941	0.40147	0.0:0.7807:0.1415:0.0779	.	163	P07225	PROS_HUMAN	N	163;32;195;32	ENSP00000377783:D163N;ENSP00000385794:D32N;ENSP00000330021:D195N;ENSP00000419616:D32N	ENSP00000330021:D195N	D	-	1	0	PROS1	95107432	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.906000	0.28517	0.510000	0.28216	0.484000	0.47621	GAT		0.323	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
DHFRL1	200895	broad.mit.edu	37	3	93780212	93780212	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:93780212C>A	ENST00000394221.2	-	2	593	c.144G>T	c.(142-144)caG>caT	p.Q48H	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.Q48H|NSUN3_ENST00000314622.4_5'Flank	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	48	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.Q48H(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TCACCAGATTCTGTTTACCCT	0.468																																					p.Q48H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G144T	3						.						143.0	149.0	147.0					3																	93780212		2203	4300	6503	95262902	SO:0001583	missense	200895	exon2			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.144G>T	3.37:g.93780212C>A	ENSP00000377768:p.Gln48His	Somatic		Capture	Illumina HiSeq	Phase_I	95262902	NM_001195643	D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757206	0.49468	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.72051	-0.62;-0.62;-0.62	0.811	0.811	0.18739	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.203867	0.43110	U	0.000617	T	0.80834	0.4699	M	0.85041	2.73	0.48901	D	0.999723	D	0.69078	0.997	D	0.68353	0.957	T	0.79105	-0.1940	10	0.49607	T	0.09	-3.4769	7.4961	0.27490	0.0:1.0:0.0:0.0	.	48	Q86XF0	DYRL1_HUMAN	H	48	ENSP00000319170:Q48H;ENSP00000377768:Q48H;ENSP00000420810:Q48H	ENSP00000319170:Q48H	Q	-	3	2	DHFRL1	95262902	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.823000	0.48081	0.747000	0.32809	0.449000	0.29647	CAG		0.468	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815	
EPHA6	285220	broad.mit.edu	37	3	97202880	97202880	+	Missense_Mutation	SNP	G	G	A	rs367742024		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:97202880G>A	ENST00000514100.1	+	7	595	c.353G>A	c.(352-354)cGt>cAt	p.R118H	EPHA6_ENST00000442602.2_Missense_Mutation_p.R92H|EPHA6_ENST00000502694.1_Missense_Mutation_p.R118H|EPHA6_ENST00000389672.5_Missense_Mutation_p.R726H	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	632	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R632H(1)|p.R118H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGAATTCGTATTGAGAGA	0.368																																					p.R726H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2177A	3						.	G	HIS/ARG,HIS/ARG	0,3702		0,0,1851	93.0	94.0	94.0		2177,353	5.4	1.0	3		94	1,8219		0,1,4109	no	missense,missense	EPHA6	NM_001080448.2,NM_173655.2	29,29	0,1,5960	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	726/1131,118/335	97202880	1,11921	1851	4110	5961	98685570	SO:0001583	missense	285220	exon10			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.353G>A	3.37:g.97202880G>A	ENSP00000421711:p.Arg118His	Somatic		Capture	Illumina HiSeq	Phase_I	98685570	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.104245	0.76983	0.0	1.22E-4	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88908	0.6565	L	0.45698	1.435	0.50039	D	0.999843	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.83275	0.952;0.89;0.996;0.974	D	0.88412	0.3022	9	0.48119	T	0.1	.	19.2931	0.94110	0.0:0.0:1.0:0.0	.	92;631;118;118	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	H	726;118;118;92	ENSP00000374323:R726H;ENSP00000421711:R118H;ENSP00000423950:R118H;ENSP00000403100:R92H	ENSP00000374323:R726H	R	+	2	0	EPHA6	98685570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.397000	0.59690	2.561000	0.86390	0.556000	0.70494	CGT		0.368	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448	
CRYBG3	131544	broad.mit.edu	37	3	97596278	97596278	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:97596278T>G	ENST00000182096.4	+	1	460	c.396T>G	c.(394-396)atT>atG	p.I132M		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2080							carbohydrate binding (GO:0030246)	p.I132M(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGTACAAAATTTATCCTTTAG	0.403																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	3						.						92.0	91.0	91.0					3																	97596278		1913	4120	6033	99078968	SO:0001583	missense	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.396T>G	3.37:g.97596278T>G	ENSP00000182096:p.Ile132Met	Somatic		Capture	Illumina HiSeq	Phase_I	99078968	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	T	16.18	3.048970	0.55110	.	.	ENSG00000080200	ENST00000182096	T	0.78481	-1.18	5.68	0.271	0.15640	.	0.307429	0.27866	N	0.017537	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.64997	-0.6275	10	0.87932	D	0	.	2.8131	0.05447	0.1098:0.2882:0.1122:0.4897	.	132	Q68DQ2	CRBG3_HUMAN	M	132	ENSP00000182096:I132M	ENSP00000182096:I132M	I	+	3	3	CRYBG3	99078968	0.995000	0.38212	0.999000	0.59377	0.977000	0.68977	0.065000	0.14466	0.127000	0.18452	0.528000	0.53228	ATT		0.403	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
MINA	84864	broad.mit.edu	37	3	97664714	97664714	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:97664714C>A	ENST00000333396.7	-	9	1749	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	MINA_ENST00000394198.2_Missense_Mutation_p.K389N|MINA_ENST00000360258.4_Missense_Mutation_p.K388N	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.K388N(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TGTACACCATCTTTTCTTGAG	0.383																																					p.K389N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1167T	3						.						147.0	128.0	134.0					3																	97664714		2203	4299	6502	99147404	SO:0001583	missense	84864	exon9			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1167G>T	3.37:g.97664714C>A	ENSP00000328251:p.Lys389Asn	Somatic		Capture	Illumina HiSeq	Phase_I	99147404	NM_001042533		Missense_Mutation	SNP	ENST00000333396.7	37	CCDS43114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.84|11.84	1.758992|1.758992	0.31137|0.31137	.|.	.|.	ENSG00000170854|ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258|ENST00000503097	T;T;T|.	0.12361|.	2.7;2.7;2.69|.	6.06|6.06	0.616|0.616	0.17613|0.17613	.|.	0.781182|.	0.12554|.	N|.	0.458802|.	T|T	0.58509|0.58509	0.2127|0.2127	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B;B|.	0.17268|.	0.021;0.012|.	B;B|.	0.15870|.	0.014;0.006|.	T|T	0.58393|0.58393	-0.7644|-0.7644	10|6	0.21014|0.87932	T|D	0.42|0	-8.8408|-8.8408	5.9786|5.9786	0.19395|0.19395	0.0:0.4057:0.1314:0.4629|0.0:0.4057:0.1314:0.4629	.|.	388;389|.	Q8IUF8-4;Q8IUF8|.	.;MINA_HUMAN|.	N|I	135;389;389;388|20	ENSP00000328251:K389N;ENSP00000377748:K389N;ENSP00000353395:K388N|.	ENSP00000328251:K389N|ENSP00000421347:R20I	K|R	-|-	3|2	2|0	MINA|MINA	99147404|99147404	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	0.707000|0.707000	0.25704|0.25704	0.362000|0.362000	0.24319|0.24319	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.383	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778	
GABRR3	200959	broad.mit.edu	37	3	97727892	97727892	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:97727892G>T	ENST00000472788.1	-	0	532					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CCTATAAAAAGAATGAGAAAA	0.388																																					.												.	.	0			.	3						.						36.0	31.0	33.0					3																	97727892		1833	4080	5913	99210582			200959	.			Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97727892G>T		Somatic		Capture	Illumina HiSeq	Phase_I	99210582	.	Q9UIV9	Intron	SNP	ENST00000472788.1	37																																																																																					0.388	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2		
OR5AC2	81050	broad.mit.edu	37	3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A	rs565646972		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:97806749G>A	ENST00000358642.2	+	1	733	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A245T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CACATGCGGCGCCCATCTGCT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.001				p.A245T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G733A	3						.						80.0	71.0	74.0					3																	97806749		2203	4300	6503	99289439	SO:0001583	missense	81050	exon1			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.733G>A	3.37:g.97806749G>A	ENSP00000351466:p.Ala245Thr	Somatic		Capture	Illumina HiSeq	Phase_I	99289439	NM_054106		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299850	0.60195	.	.	ENSG00000196578	ENST00000358642	T	0.37235	1.21	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.216069	0.23088	U	0.052068	T	0.52741	0.1753	M	0.62723	1.935	0.22858	N	0.998647	D	0.69078	0.997	D	0.71656	0.974	T	0.41574	-0.9501	10	0.72032	D	0.01	-10.9172	9.6529	0.39908	0.0:0.0:0.792:0.208	.	245	Q9NZP5	O5AC2_HUMAN	T	245	ENSP00000351466:A245T	ENSP00000351466:A245T	A	+	1	0	OR5AC2	99289439	0.119000	0.22226	0.803000	0.32268	0.760000	0.43138	0.875000	0.28079	2.261000	0.74972	0.523000	0.50628	GCC		0.423	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1		
OR5H2	79310	broad.mit.edu	37	3	98002570	98002570	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:98002570C>A	ENST00000355273.2	+	1	839	c.839C>A	c.(838-840)tCt>tAt	p.S280Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S280Y(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGATAGACTCTGTCTTTTAT	0.348																																					p.S280Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839A	3						.						67.0	63.0	64.0					3																	98002570		2203	4300	6503	99485260	SO:0001583	missense	79310	exon1				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.839C>A	3.37:g.98002570C>A	ENSP00000347418:p.Ser280Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	99485260	NM_001005482	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	6.379	0.438081	0.12104	.	.	ENSG00000197938	ENST00000355273	T	0.00274	8.35	3.03	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001415	T	0.00906	0.0030	H	0.96805	3.885	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.27673	-1.0067	10	0.87932	D	0	.	7.7828	0.29074	0.0:0.8674:0.0:0.1326	.	280	Q8NGV7	OR5H2_HUMAN	Y	280	ENSP00000347418:S280Y	ENSP00000347418:S280Y	S	+	2	0	OR5H2	99485260	0.055000	0.20627	0.005000	0.12908	0.002000	0.02628	1.145000	0.31577	0.605000	0.29947	0.411000	0.27672	TCT		0.348	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
OR5K4	403278	broad.mit.edu	37	3	98073003	98073003	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:98073003T>G	ENST00000354924.2	+	1	306	c.306T>G	c.(304-306)taT>taG	p.Y102*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y102*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACAATTTTATTTTCTCTGTC	0.443																																					p.Y102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T306G	3						.						227.0	235.0	232.0					3																	98073003		2203	4300	6503	99555693	SO:0001587	stop_gained	403278	exon1				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.306T>G	3.37:g.98073003T>G	ENSP00000347003:p.Tyr102*	Somatic		Capture	Illumina HiSeq	Phase_I	99555693	NM_001005517		Nonsense_Mutation	SNP	ENST00000354924.2	37	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577261	0.65878	.	.	ENSG00000196098	ENST00000354924	.	.	.	4.77	-0.394	0.12434	.	0.000000	0.30118	U	0.010372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.3219	7.464	0.27312	0.0:0.3798:0.0:0.6202	.	.	.	.	X	102	.	ENSP00000347003:Y102X	Y	+	3	2	OR5K4	99555693	0.000000	0.05858	0.986000	0.45419	0.900000	0.52787	-0.438000	0.06905	-0.132000	0.11557	0.491000	0.48974	TAT		0.443	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
OR5K3	403277	broad.mit.edu	37	3	98110324	98110324	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:98110324T>G	ENST00000383695.1	+	1	815	c.815T>G	c.(814-816)gTt>gGt	p.V272G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V272G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GATATACCTGTTGCTATATTT	0.303																																					p.V272G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T815G	3						.						82.0	79.0	80.0					3																	98110324		2203	4300	6503	99593014	SO:0001583	missense	403277	exon1				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.815T>G	3.37:g.98110324T>G	ENSP00000373194:p.Val272Gly	Somatic		Capture	Illumina HiSeq	Phase_I	99593014	NM_001005516		Missense_Mutation	SNP	ENST00000383695.1	37	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	T	9.084	1.000122	0.19121	.	.	ENSG00000206536	ENST00000383695	T	0.42131	0.98	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.634394	0.12945	N	0.426313	T	0.53417	0.1795	M	0.62209	1.925	0.09310	N	0.999999	P	0.48911	0.917	P	0.55749	0.783	T	0.49688	-0.8913	10	0.72032	D	0.01	-21.5985	7.9085	0.29776	0.0:0.0932:0.0:0.9068	.	272	A6NET4	OR5K3_HUMAN	G	272	ENSP00000373194:V272G	ENSP00000373194:V272G	V	+	2	0	OR5K3	99593014	0.000000	0.05858	0.458000	0.27068	0.426000	0.31534	0.771000	0.26633	2.043000	0.60533	0.491000	0.48974	GTT		0.303	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
GPR15	2838	broad.mit.edu	37	3	98251037	98251037	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:98251037C>A	ENST00000284311.3	+	1	295	c.160C>A	c.(160-162)Ctc>Atc	p.L54I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	54					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L54I(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GAACCTTGTTCTCATGGGAGC	0.493																																					p.L54I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C160A	3						.						82.0	77.0	79.0					3																	98251037		2203	4300	6503	99733727	SO:0001583	missense	2838	exon1				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.160C>A	3.37:g.98251037C>A	ENSP00000284311:p.Leu54Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99733727	NM_005290	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692458	0.48202	.	.	ENSG00000154165	ENST00000284311	T	0.70749	-0.51	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000545	T	0.75510	0.3859	M	0.68317	2.08	0.41466	D	0.988071	P	0.49862	0.929	P	0.52309	0.695	T	0.78476	-0.2189	10	0.72032	D	0.01	-20.6882	11.3729	0.49711	0.0:0.8169:0.1831:0.0	.	54	P49685	GPR15_HUMAN	I	54	ENSP00000284311:L54I	ENSP00000284311:L54I	L	+	1	0	GPR15	99733727	0.987000	0.35691	0.919000	0.36401	0.182000	0.23217	2.248000	0.43160	2.639000	0.89480	0.650000	0.86243	CTC		0.493	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1		
TBC1D23	55773	broad.mit.edu	37	3	100035037	100035037	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:100035037G>T	ENST00000394144.4	+	16	1694				TBC1D23_ENST00000486274.1_Intron|TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000344949.5_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23						positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CACAGGTGTAGTAATACACTT	0.428																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	3						.						90.0	89.0	90.0					3																	100035037		2203	4300	6503	101517727	SO:0001627	intron_variant	55773	.			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1687+6G>T	3.37:g.100035037G>T		Somatic		Capture	Illumina HiSeq	Phase_I	101517727	.	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Intron	SNP	ENST00000394144.4	37	CCDS56265.1																																																																																				0.428	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
ALCAM	214	broad.mit.edu	37	3	105264191	105264191	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:105264191T>G	ENST00000306107.5	+	9	1604				ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000472644.2_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TAAGTAATATTTTTGGTACTA	0.373																																					.												.	.	0			.	3						.						140.0	126.0	131.0					3																	105264191		2203	4300	6503	106746881	SO:0001627	intron_variant	214	.			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1104+12T>G	3.37:g.105264191T>G		Somatic		Capture	Illumina HiSeq	Phase_I	106746881	.	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Intron	SNP	ENST00000306107.5	37	CCDS33810.1																																																																																				0.373	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	
GRAMD1C	54762	broad.mit.edu	37	3	113588447	113588447	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:113588447G>T	ENST00000358160.4	+	3	751				GRAMD1C_ENST00000479212.1_Intron|GRAMD1C_ENST00000452134.2_Intron	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)		p.?(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGTAAAATAGAAATTTTCAA	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						51.0	56.0	54.0					3																	113588447		2201	4293	6494	115071137	SO:0001627	intron_variant	54762	.				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.259+9G>T	3.37:g.113588447G>T		Somatic		Capture	Illumina HiSeq	Phase_I	115071137	.	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Intron	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.308	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
ARHGAP31	57514	broad.mit.edu	37	3	119120658	119120658	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119120658C>A	ENST00000264245.4	+	10	1601					NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACACTTGTTCCTTTTTACTAG	0.478																																					.	Pancreas(7;176 297 5394 51128 51241)											.	.	0			.	3						.						18.0	20.0	19.0					3																	119120658		1924	4112	6036	120603348	SO:0001627	intron_variant	57514	.				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1070-11C>A	3.37:g.119120658C>A		Somatic		Capture	Illumina HiSeq	Phase_I	120603348	.	Q9ULL6	Intron	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																				0.478	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
TIMMDC1	51300	broad.mit.edu	37	3	119219713	119219713	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:119219713T>C	ENST00000494664.1	+	2	562				TIMMDC1_ENST00000493694.1_Intron|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.?(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTGTGGTATGTACTGGTGATC	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						82.0	81.0	81.0					3																	119219713		2203	4300	6503	120702403	SO:0001627	intron_variant	51300	.			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.360+6T>C	3.37:g.119219713T>C		Somatic		Capture	Illumina HiSeq	Phase_I	120702403	.	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Intron	SNP	ENST00000494664.1	37	CCDS33831.1																																																																																				0.398	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589	
STXBP5L	9515	broad.mit.edu	37	3	120973966	120973966	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:120973966T>C	ENST00000273666.6	+	16	1930				STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000492541.1_Intron|STXBP5L_ENST00000497029.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTGGTAAGTTATTTAAAATT	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						20.0	19.0	20.0					3																	120973966		1793	4052	5845	122456656	SO:0001627	intron_variant	9515	.			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1659+7T>C	3.37:g.120973966T>C		Somatic		Capture	Illumina HiSeq	Phase_I	122456656	.	Q4G1B4|Q6PIC3	Intron	SNP	ENST00000273666.6	37	CCDS43137.1																																																																																				0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
POLQ	10721	broad.mit.edu	37	3	121154957	121154957	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121154957C>T	ENST00000264233.5	-	28	7672					NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGGCCTCATCTATGAACAAA	0.368								DNA polymerases (catalytic subunits)																													.	Pancreas(152;907 1925 26081 31236 36904)											.	.	0			.	3						.						175.0	158.0	164.0					3																	121154957		2203	4300	6503	122637647	SO:0001627	intron_variant	10721	.			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7543+11G>A	3.37:g.121154957C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122637647	.	O95160|Q6VMB5	Intron	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
SLC15A2	6565	broad.mit.edu	37	3	121643232	121643232	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:121643232T>C	ENST00000489711.1	+	12	1423		c.e12+2		SLC15A2_ENST00000295605.2_Splice_Site|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.?(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGATGCAGGTATGTGACTCT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						209.0	217.0	214.0					3																	121643232		2203	4300	6503	123125922	SO:0001630	splice_region_variant	6565	.			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1035+2T>C	3.37:g.121643232T>C		Somatic		Capture	Illumina HiSeq	Phase_I	123125922	.	A8K1A5|B4E2A7	Splice_Site	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451384	0.63290	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8488	0.63483	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC15A2	123125922	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	6.604000	0.74150	2.226000	0.72624	0.459000	0.35465	.		0.368	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	Intron
KPNA1	3836	broad.mit.edu	37	3	122215277	122215277	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122215277G>T	ENST00000344337.6	-	2	306					NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.?(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AAAGGTAAAGGATTTACCTGC	0.388																																					.	Melanoma(12;340 801 11196 19797)											.	.	1	Unknown(1)	large_intestine(1)	.	3						.						134.0	129.0	130.0					3																	122215277		2203	4300	6503	123697967	SO:0001627	intron_variant	3836	.			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.129+6C>A	3.37:g.122215277G>T		Somatic		Capture	Illumina HiSeq	Phase_I	123697967	.	D3DN93|Q6IBQ9|Q9BQ56	Intron	SNP	ENST00000344337.6	37	CCDS3013.1																																																																																				0.388	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
SEC22A	26984	broad.mit.edu	37	3	122942581	122942581	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:122942581A>C	ENST00000309934.4	+	2	1242				SEC22A_ENST00000477063.1_Intron|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TAAGGGCCTGATTTTTTTTTC	0.358																																					.												.	.	0			.	3						.						119.0	118.0	118.0					3																	122942581		2203	4300	6503	124425271	SO:0001627	intron_variant	26984	.			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.346+12A>C	3.37:g.122942581A>C		Somatic		Capture	Illumina HiSeq	Phase_I	124425271	.	B2RE26|Q9Y682	Intron	SNP	ENST00000309934.4	37	CCDS3021.1																																																																																				0.358	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430	
MYLK	4638	broad.mit.edu	37	3	123378532	123378532	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:123378532C>T	ENST00000475616.1	-	21	3985				MYLK_ENST00000360304.3_Intron|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000354792.5_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000359169.1_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGATGAAAACTCTCAGAAAA	0.522																																					.												.	.	0			.	3						.						36.0	32.0	34.0					3																	123378532		876	1991	2867	124861222	SO:0001627	intron_variant	4638	.			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3986-2257G>A	3.37:g.123378532C>T		Somatic		Capture	Illumina HiSeq	Phase_I	124861222	.	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Intron	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
KALRN	8997	broad.mit.edu	37	3	124175445	124175445	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124175445C>A	ENST00000240874.3	+	23	3886				KALRN_ENST00000460856.1_Intron|KALRN_ENST00000360013.3_Intron	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTTGTGATCCCTCCATGTGCA	0.483																																					.												.	.	0			.	3						.						77.0	82.0	80.0					3																	124175445		2203	4300	6503	125658135	SO:0001627	intron_variant	8997	.			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3730-12C>A	3.37:g.124175445C>A		Somatic		Capture	Illumina HiSeq	Phase_I	125658135	.	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Intron	SNP	ENST00000240874.3	37	CCDS3027.1																																																																																				0.483	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
ITGB5	3693	broad.mit.edu	37	3	124592292	124592292	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:124592292C>T	ENST00000296181.4	-	2	453		c.e2+1			NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CACCTACATACCTCTTTGGAG	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						244.0	229.0	234.0					3																	124592292		2203	4300	6503	126074982	SO:0001630	splice_region_variant	3693	.			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.156+1G>A	3.37:g.124592292C>T		Somatic		Capture	Illumina HiSeq	Phase_I	126074982	.	B0LPF8|B2RD70	Splice_Site	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005327	0.74932	.	.	ENSG00000082781	ENST00000296181	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.402	0.74849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGB5	126074982	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.400000	0.66320	2.613000	0.88420	0.462000	0.41574	.		0.478	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	Intron
ACPP	55	broad.mit.edu	37	3	132056406	132056406	+	Intron	SNP	G	G	A	rs571910861	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:132056406G>A	ENST00000336375.5	+	5	645				ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Intron	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate						adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.?(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGGTTAAAAGCTAGTTTTGT	0.418																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	3						.						74.0	64.0	67.0					3																	132056406		2203	4300	6503	133539096	SO:0001627	intron_variant	55	.				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.555+8G>A	3.37:g.132056406G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133539096	.	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Intron	SNP	ENST00000336375.5	37	CCDS3073.1																																																																																				0.418	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	
U2SURP	23350	broad.mit.edu	37	3	142741511	142741511	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:142741511A>G	ENST00000473835.2	+	11	1108				U2SURP_ENST00000397933.2_Intron|U2SURP_ENST00000493598.2_Intron	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AATGGTAAGAACATTTTTATT	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						38.0	37.0	37.0					3																	142741511		1786	4057	5843	144224201	SO:0001627	intron_variant	23350	.			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1018+7A>G	3.37:g.142741511A>G		Somatic		Capture	Illumina HiSeq	Phase_I	144224201	.	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Intron	SNP	ENST00000473835.2	37	CCDS46928.1																																																																																				0.318	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
ZIC4	84107	broad.mit.edu	37	3	147113629	147113629	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:147113629G>A	ENST00000383075.3	-	3	1201				ZIC4_ENST00000484399.1_Intron|ZIC4_ENST00000473123.1_Intron|ZIC4_ENST00000525172.2_Intron|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGACAGCGCCGAATACTGACC	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						71.0	82.0	78.0					3																	147113629		2105	4256	6361	148596319	SO:0001627	intron_variant	84107	.			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.688+9C>T	3.37:g.147113629G>A		Somatic		Capture	Illumina HiSeq	Phase_I	148596319	.	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Intron	SNP	ENST00000383075.3	37	CCDS43160.1																																																																																				0.547	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
CPB1	1360	broad.mit.edu	37	3	148562453	148562453	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:148562453T>C	ENST00000491148.1	+	9	1021				CPB1_ENST00000282957.4_Intron			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACTATGTAGTCCACTTTCAG	0.443																																					.												.	.	0			.	3						.						91.0	92.0	92.0					3																	148562453		2203	4300	6503	150045143	SO:0001627	intron_variant	1360	.			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.688-11T>C	3.37:g.148562453T>C		Somatic		Capture	Illumina HiSeq	Phase_I	150045143	.	O60834|Q53XJ0|Q96BQ8	Intron	SNP	ENST00000491148.1	37	CCDS33874.1																																																																																				0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
CLRN1	7401	broad.mit.edu	37	3	150645718	150645718	+	3'UTR	SNP	G	G	A	rs111398745	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:150645718G>A	ENST00000327047.1	-	0	994				RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000295911.2_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1						actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGAAAGGTTTGCCTTTCAGTA	0.358													G|||	16	0.00319489	0.0106	0.0014	5008	,	,		18565	0.0		0.001	False		,,,				2504	0.0				.												.	.	0			.	3						.	G	,,	35,4371	40.0+/-72.8	0,35,2168	48.0	52.0	51.0		,,	2.6	0.2	3	dbSNP_132	51	0,8600		0,0,4300	no	utr-3,intron,utr-3	CLRN1	NM_001195794.1,NM_052995.2,NM_174878.2	,,	0,35,6468	AA,AG,GG		0.0,0.7944,0.2691	,,	,,	150645718	35,12971	2203	4300	6503	152128408	SO:0001624	3_prime_UTR_variant	7401	.			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.*5C>T	3.37:g.150645718G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152128408	.	D3DNJ3|E1ACU9|Q8N6A9	3'UTR	SNP	ENST00000327047.1	37	CCDS3153.1																																																																																				0.358	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1		
MED12L	116931	broad.mit.edu	37	3	151074992	151074992	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:151074992C>T	ENST00000474524.1	+	18	2594				P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCTTTTCTCCTGTTACAGTT	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						56.0	54.0	55.0					3																	151074992		2203	4300	6503	152557682	SO:0001627	intron_variant	116931	.			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2557-9C>T	3.37:g.151074992C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152557682	.	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Intron	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																				0.358	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MBNL1	4154	broad.mit.edu	37	3	152175913	152175913	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:152175913C>T	ENST00000463374.1	+	8	1621				MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000355460.2_Intron|RP11-362A9.3_ENST00000463255.1_RNA	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGTATGTTTCGACAGCCCCA	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						200.0	138.0	159.0					3																	152175913		2203	4300	6503	153658603	SO:0001627	intron_variant	4154	.			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1111-1147C>T	3.37:g.152175913C>T		Somatic		Capture	Illumina HiSeq	Phase_I	153658603	.	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Intron	SNP	ENST00000463374.1	37	CCDS3165.1																																																																																				0.478	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
VEPH1	79674	broad.mit.edu	37	3	156983461	156983461	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:156983461G>A	ENST00000362010.2	-	13	2436				RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Intron|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1							plasma membrane (GO:0005886)		p.?(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGTTGAAGGTAGCAGAATA	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						113.0	106.0	108.0					3																	156983461		2203	4300	6503	158466155	SO:0001627	intron_variant	79674	.			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2129-10C>T	3.37:g.156983461G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158466155	.	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Intron	SNP	ENST00000362010.2	37	CCDS3179.1																																																																																				0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
RSRC1	51319	broad.mit.edu	37	3	158261960	158261960	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:158261960T>G	ENST00000295930.3	+	10	1074				RSRC1_ENST00000475278.2_Intron|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTTTTCTTTTCTTATTTCA	0.353																																					.												.	.	0			.	3						.						55.0	61.0	59.0					3																	158261960		2203	4299	6502	159744654	SO:0001627	intron_variant	51319	.			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.913-12T>G	3.37:g.158261960T>G		Somatic		Capture	Illumina HiSeq	Phase_I	159744654	.	A8K2R9|Q96QK2|Q9NZE5	Intron	SNP	ENST00000295930.3	37	CCDS3181.1																																																																																				0.353	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625	
PLD1	5337	broad.mit.edu	37	3	171404467	171404467	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:171404467T>G	ENST00000351298.4	-	16	1994				PLD1_ENST00000340989.4_Intron|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTCACAAATTACTTACCAG	0.443																																					.	NSCLC(149;2174 3517 34058)											.	.	1	Unknown(1)	large_intestine(1)	.	3						.						123.0	127.0	125.0					3																	171404467		2203	4300	6503	172887161	SO:0001627	intron_variant	5337	.			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1867+7A>C	3.37:g.171404467T>G		Somatic		Capture	Illumina HiSeq	Phase_I	172887161	.		Intron	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																				0.443	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PEX5L	51555	broad.mit.edu	37	3	179537637	179537637	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:179537637G>T	ENST00000467460.1	-	9	1270				PEX5L_ENST00000465751.1_Intron|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000476138.1_Intron|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000472994.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like						maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TATAGGAACAGAATTGGTTAC	0.388																																					.												.	.	0			.	3						.						225.0	200.0	208.0					3																	179537637		2203	4300	6503	181020331	SO:0001627	intron_variant	51555	.			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.939+10C>A	3.37:g.179537637G>T		Somatic		Capture	Illumina HiSeq	Phase_I	181020331	.	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Intron	SNP	ENST00000467460.1	37	CCDS3236.1																																																																																				0.388	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
DCUN1D1	54165	broad.mit.edu	37	3	182679152	182679152	+	Intron	SNP	G	G	A	rs184671977	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:182679152G>A	ENST00000292782.4	-	4	543				DCUN1D1_ENST00000469954.1_Intron	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1							ubiquitin ligase complex (GO:0000151)		p.?(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CATCTGCGTCGTAAAATTAAG	0.313													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14108	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.	G		6,4400	11.4+/-27.6	0,6,2197	204.0	227.0	219.0			-0.5	0.8	3		219	0,8600		0,0,4300	no	intron	DCUN1D1	NM_020640.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461			182679152	6,13000	2203	4300	6503	184161846	SO:0001627	intron_variant	54165	.			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.390-8C>T	3.37:g.182679152G>A		Somatic		Capture	Illumina HiSeq	Phase_I	184161846	.	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Intron	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.313	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
MCF2L2	23101	broad.mit.edu	37	3	182897848	182897848	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:182897848G>A	ENST00000328913.3	-	28	3403				MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Intron	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAACAAAAGGGAAGTAATTAC	0.517																																					.												.	.	0			.	3						.						229.0	217.0	221.0					3																	182897848		2203	4300	6503	184380542	SO:0001627	intron_variant	23101	.			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3105+10C>T	3.37:g.182897848G>A		Somatic		Capture	Illumina HiSeq	Phase_I	184380542	.	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Intron	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
HTR3C	170572	broad.mit.edu	37	3	183776381	183776381	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183776381T>C	ENST00000318351.1	+	6	754					NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.?(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TTTATGTGAGTCCAGGGGCCC	0.522																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						85.0	86.0	86.0					3																	183776381		2203	4300	6503	185259075	SO:0001627	intron_variant	170572	.			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.720+6T>C	3.37:g.183776381T>C		Somatic		Capture	Illumina HiSeq	Phase_I	185259075	.	A2RRR5	Intron	SNP	ENST00000318351.1	37	CCDS3250.1																																																																																				0.522	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770	
DVL3	1857	broad.mit.edu	37	3	183882048	183882048	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:183882048C>A	ENST00000313143.3	+	3	479				DVL3_ENST00000462665.1_Intron|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3						canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGTTTCTCCCTTTCAGCTGG	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						85.0	87.0	86.0					3																	183882048		2203	4300	6503	185364742	SO:0001627	intron_variant	1857	.			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.232-7C>A	3.37:g.183882048C>A		Somatic		Capture	Illumina HiSeq	Phase_I	185364742	.	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Intron	SNP	ENST00000313143.3	37	CCDS3253.1																																																																																				0.547	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
EIF4G1	1981	broad.mit.edu	37	3	184045502	184045502	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184045502G>A	ENST00000346169.2	+	25	4051				EIF4G1_ENST00000435046.2_Intron|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Intron|EIF4G1_ENST00000441154.1_Intron|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Intron|EIF4G1_ENST00000382330.3_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000319274.6_Intron|EIF4G1_ENST00000424196.1_Intron|EIF4G1_ENST00000342981.4_Intron|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Intron|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000352767.3_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTAGGCAGTGGGAGCGGCGT	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						60.0	60.0	60.0					3																	184045502		2203	4300	6503	185528196	SO:0001627	intron_variant	1981	.			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3780+10G>A	3.37:g.184045502G>A		Somatic		Capture	Illumina HiSeq	Phase_I	185528196	.	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Intron	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
VPS8	23355	broad.mit.edu	37	3	184684509	184684509	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:184684509C>A	ENST00000437079.3	+	39	3487				VPS8_ENST00000287546.4_Intron|VPS8_ENST00000446204.2_Intron|VPS8_ENST00000436792.2_Intron	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAAGTAAGTTCTTGAAAATAA	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						94.0	90.0	91.0					3																	184684509		1807	4063	5870	186167203	SO:0001627	intron_variant	23355	.			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3316+8C>A	3.37:g.184684509C>A		Somatic		Capture	Illumina HiSeq	Phase_I	186167203	.	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Intron	SNP	ENST00000437079.3	37	CCDS46971.1																																																																																				0.289	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
SENP2	59343	broad.mit.edu	37	3	185347562	185347562	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:185347562C>A	ENST00000296257.5	+	17	1947				SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2						cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTATGGGGTTCTTTGCAGCAC	0.463																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	3						.						175.0	156.0	163.0					3																	185347562		2203	4300	6503	186830256	SO:0001627	intron_variant	59343	.			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1708-8C>A	3.37:g.185347562C>A		Somatic		Capture	Illumina HiSeq	Phase_I	186830256	.	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Intron	SNP	ENST00000296257.5	37	CCDS33902.1																																																																																				0.463	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	
RFC4	5984	broad.mit.edu	37	3	186508045	186508045	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:186508045C>A	ENST00000392481.2	-	10	1164		c.e10-1		SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Splice_Site|RFC4_ENST00000296273.2_Splice_Site	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.?(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTATTAAATCCTATAATAAAA	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						81.0	83.0	83.0					3																	186508045		2200	4299	6499	187990739	SO:0001630	splice_region_variant	5984	.				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.883-1G>T	3.37:g.186508045C>A		Somatic		Capture	Illumina HiSeq	Phase_I	187990739	.	B4DM41|D3DNV2|Q6FHX7	Splice_Site	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619578	0.28801	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000417876	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4487	0.87586	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFC4	187990739	1.000000	0.71417	0.120000	0.21714	0.097000	0.18754	5.564000	0.67359	2.714000	0.92807	0.655000	0.94253	.		0.343	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	Intron
SST	6750	broad.mit.edu	37	3	187388082	187388082	+	5'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:187388082C>T	ENST00000287641.3	-	0	105					NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin						cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GACAGCATCTCGGCGCCGCGA	0.672																																					.												.	.	0			.	3						.						11.0	11.0	11.0					3																	187388082		2188	4282	6470	188870776	SO:0001623	5_prime_UTR_variant	6750	.				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.-3G>A	3.37:g.187388082C>T		Somatic		Capture	Illumina HiSeq	Phase_I	188870776	.	B2R5G3|P01166	5'UTR	SNP	ENST00000287641.3	37	CCDS3288.1																																																																																				0.672	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048	
ATP13A5	344905	broad.mit.edu	37	3	193018988	193018988	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193018988T>G	ENST00000342358.4	-	24	2893				ATP13A5_ENST00000495496.1_Intron	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5							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)		ACAAAATGATTTTGTTTCATA	0.333																																					.												.	.	0			.	3						.						105.0	112.0	110.0					3																	193018988		2203	4300	6503	194501682	SO:0001627	intron_variant	344905	.			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.2775+11A>C	3.37:g.193018988T>G		Somatic		Capture	Illumina HiSeq	Phase_I	194501682	.	Q6UWS4|Q6ZWL0	Intron	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.333	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A5	344905	broad.mit.edu	37	3	193081891	193081891	+	Intron	SNP	C	C	T	rs189350276	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:193081891C>T	ENST00000342358.4	-	2	355					NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.?(1)		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)		CAGAAAGGCACGCACTGTTGT	0.478													C|||	6	0.00119808	0.0	0.0	5008	,	,		18408	0.006		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.	C		1,4405	2.1+/-5.4	0,1,2202	126.0	121.0	122.0			3.3	0.0	3		122	0,8600		0,0,4300	no	intron	ATP13A5	NM_198505.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			193081891	1,13005	2203	4300	6503	194564585	SO:0001627	intron_variant	344905	.			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.237+4G>A	3.37:g.193081891C>T		Somatic		Capture	Illumina HiSeq	Phase_I	194564585	.	Q6UWS4|Q6ZWL0	Intron	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.478	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
TFRC	7037	broad.mit.edu	37	3	195789719	195789719	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:195789719G>A	ENST00000360110.4	-	12	1574				TFRC_ENST00000465288.1_Intron|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000540528.1_Intron|TFRC_ENST00000420415.1_Intron|TFRC_ENST00000392396.3_Intron	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor						cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.?(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	GGATGATAAAGAATACCTCTA	0.458			T	BCL6	NHL																																.			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	.	.	1	Unknown(1)	large_intestine(1)	.	3						.						80.0	74.0	76.0					3																	195789719		2203	4300	6503	197274116	SO:0001627	intron_variant	7037	.			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1404+5C>T	3.37:g.195789719G>A		Somatic		Capture	Illumina HiSeq	Phase_I	197274116	.	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Intron	SNP	ENST00000360110.4	37	CCDS3312.1																																																																																				0.458	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		
SENP5	205564	broad.mit.edu	37	3	196613266	196613266	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr3:196613266C>A	ENST00000323460.5	+	2	1463	c.1214C>A	c.(1213-1215)tCt>tAt	p.S405Y	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.S405Y	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	405					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S405Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAGACAAGTTCTGTCAGTGAT	0.418																																					p.S405Y	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1214A	3						.						88.0	92.0	90.0					3																	196613266		2203	4300	6503	198097663	SO:0001583	missense	205564	exon2			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1214C>A	3.37:g.196613266C>A	ENSP00000327197:p.Ser405Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	198097663	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	1.483	-0.556722	0.03967	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.33865	1.39;1.39	5.4	1.29	0.21616	.	1.363460	0.04597	N	0.397820	T	0.19327	0.0464	N	0.14661	0.345	0.09310	N	1	B;B	0.33448	0.044;0.412	B;B	0.28232	0.037;0.087	T	0.28202	-1.0051	10	0.72032	D	0.01	0.0711	1.1141	0.01711	0.3321:0.3531:0.1357:0.1791	.	405;405	B4DY82;Q96HI0	.;SENP5_HUMAN	Y	405	ENSP00000327197:S405Y;ENSP00000390231:S405Y	ENSP00000327197:S405Y	S	+	2	0	SENP5	198097663	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.133000	0.15912	0.725000	0.32318	0.655000	0.94253	TCT		0.418	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
HAUS3	79441	broad.mit.edu	37	4	2233740	2233741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:2233740_2233741insT	ENST00000243706.4	-	5	1954_1955	c.1725_1726insA	c.(1723-1728)tattttfs	p.F576fs	POLN_ENST00000382865.1_5'Flank|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Ins_p.F576fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	576					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.F576fs*5(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTTTTAAAAAATATACATAGA	0.272																																					p.F576fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1726_1727insA	4						.																																			2203539	SO:0001589	frameshift_variant	79441	exon5			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1725_1726insA	4.37:g.2233740_2233741insT	ENSP00000243706:p.Phe576fs	Somatic		Capture	Illumina HiSeq	Phase_I	2203538	NM_024511	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Frame_Shift_Ins	INS	ENST00000243706.4	37	CCDS33941.1																																																																																				0.272	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511	
KLHL5	51088	broad.mit.edu	37	4	39114642	39114642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39114642delT	ENST00000504108.1	+	9	2112	c.1829delT	c.(1828-1830)cttfs	p.L610fs	KLHL5_ENST00000359687.2_Frame_Shift_Del_p.L610fs|KLHL5_ENST00000261426.5_Frame_Shift_Del_p.L549fs|KLHL5_ENST00000261425.3_Frame_Shift_Del_p.L564fs|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000381930.3_Frame_Shift_Del_p.L610fs|KLHL5_ENST00000508137.2_Frame_Shift_Del_p.L423fs	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	610						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y611fs*15(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTTTGCAGACTTTATGCAGTT	0.348																																					p.L610fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1829delT	4						.						92.0	88.0	89.0					4																	39114642		2203	4300	6503	38791037	SO:0001589	frameshift_variant	51088	exon9			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1829delT	4.37:g.39114642delT	ENSP00000423897:p.Leu610fs	Somatic		Capture	Illumina HiSeq	Phase_I	38791037	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Frame_Shift_Del	DEL	ENST00000504108.1	37	CCDS33974.1																																																																																				0.348	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
H2AFZ	3015	broad.mit.edu	37	4	100870672	100870672	+	Intron	DEL	C	C	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100870672delC	ENST00000296417.5	-	3	299				H2AFZ_ENST00000529158.1_Intron|RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z						cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CGTGATTCCTCCCCCCCATAT	0.512											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	0			.	4						.																																			101089695	SO:0001627	intron_variant	3015	.			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.82-129G>-	4.37:g.100870672delC		Somatic	1354	Capture	Illumina HiSeq	Phase_I	101089695	.	B2RD56|P17317|Q6I9U0	Frame_Shift_Del	DEL	ENST00000296417.5	37	CCDS3654.1																																																																																				0.512	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106	
ADH6	130	broad.mit.edu	37	4	100131365	100131365	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100131365G>T	ENST00000237653.7	-	5	825	c.441C>A	c.(439-441)ttC>ttA	p.F147L	ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.F147L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.F147L	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	147					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.F147F(2)|p.F147L(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TGTATTCACAGAAGGTGCTGG	0.413																																					p.F147L												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|large_intestine(1)	c.C441A	4						.						112.0	109.0	110.0					4																	100131365		2203	4300	6503	100350388	SO:0001583	missense	130	exon5			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.441C>A	4.37:g.100131365G>T	ENSP00000237653:p.Phe147Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100350388	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637039	0.67130	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653	T;T;T	0.08282	3.11;3.11;3.11	3.93	2.13	0.27403	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.78456	2.415	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.85130	0.985;0.584;0.997	T	0.00684	-1.1611	10	0.87932	D	0	-29.0467	4.8583	0.13570	0.2387:0.0:0.5936:0.1677	.	147;147;147	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	L	147	ENSP00000378358:F147L;ENSP00000378359:F147L;ENSP00000237653:F147L	ENSP00000237653:F147L	F	-	3	2	ADH6	100350388	0.557000	0.26546	0.992000	0.48379	0.930000	0.56654	0.707000	0.25704	0.364000	0.24374	0.460000	0.39030	TTC		0.413	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
ADH6	130	broad.mit.edu	37	4	100134768	100134768	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100134768T>G	ENST00000237653.7	-	3	641	c.257A>C	c.(256-258)aAa>aCa	p.K86T	ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.K86T|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.K86T	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	86					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.K86T(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CCTACCTGGTTTCACTGTGCT	0.458																																					p.K86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257C	4						.						165.0	137.0	147.0					4																	100134768		2203	4300	6503	100353791	SO:0001583	missense	130	exon3			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.257A>C	4.37:g.100134768T>G	ENSP00000237653:p.Lys86Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100353791	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335419	0.41398	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	4.75	2.36	0.29203	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.279814	0.39407	N	0.001367	T	0.24509	0.0594	M	0.88031	2.925	0.80722	D	1	P;D;D	0.76494	0.947;0.999;0.999	P;D;P	0.71656	0.84;0.974;0.892	T	0.00516	-1.1694	10	0.72032	D	0.01	-14.9861	7.7206	0.28729	0.0:0.1788:0.0:0.8212	.	86;86;86	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	T	86	ENSP00000378358:K86T;ENSP00000378359:K86T;ENSP00000237653:K86T;ENSP00000426187:K86T	ENSP00000237653:K86T	K	-	2	0	ADH6	100353791	0.997000	0.39634	0.245000	0.24217	0.078000	0.17371	5.281000	0.65609	0.230000	0.21059	0.383000	0.25322	AAA		0.458	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
ADH1C	126	broad.mit.edu	37	4	100266407	100266407	+	RNA	SNP	C	C	T	rs369178099		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100266407C>T	ENST00000510055.1	-	0	450				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GAGTAAAGAGCGGGATGACTT	0.348																																					p.P92P												.	.	0			c.G276A	4						.	C		0,4398		0,0,2199	89.0	86.0	87.0		276	-7.9	0.0	4		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADH1C	NM_000669.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		92/376	100266407	1,12997	2199	4300	6499	100485430			126	exon4			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266407C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100485430	NM_000669	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Silent	SNP	ENST00000510055.1	37																																																																																					0.348	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
ADH7	131	broad.mit.edu	37	4	100350699	100350699	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100350699A>C	ENST00000209665.4	-	2	386	c.146T>G	c.(145-147)gTt>gGt	p.V49G	ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.V57G|ADH7_ENST00000437033.2_Missense_Mutation_p.V37G	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	49					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.V49G(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CTTAATGCGAACTTCTTTAGT	0.398																																					p.V49G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T146G	4						.						96.0	84.0	88.0					4																	100350699		2203	4300	6503	100569722	SO:0001583	missense	131	exon2			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.146T>G	4.37:g.100350699A>C	ENSP00000209665:p.Val49Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100569722	NM_000673	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049112	0.75846	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.07567	3.18;3.18;3.18	4.14	4.14	0.48551	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.130487	0.51477	D	0.000085	T	0.39655	0.1086	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.57665	-0.7772	10	0.87932	D	0	-1.3561	13.6514	0.62312	1.0:0.0:0.0:0.0	.	49	P40394	ADH7_HUMAN	G	37;49;57	ENSP00000414254:V37G;ENSP00000209665:V49G;ENSP00000420269:V57G	ENSP00000209665:V49G	V	-	2	0	ADH7	100569722	1.000000	0.71417	0.544000	0.28141	0.980000	0.70556	8.212000	0.89756	1.874000	0.54306	0.533000	0.62120	GTT		0.398	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	
TRMT10A	93587	broad.mit.edu	37	4	100470258	100470258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100470258G>A	ENST00000273962.3	-	8	1319	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	TRMT10A_ENST00000394876.2_Missense_Mutation_p.S336F|TRMT10A_ENST00000394877.3_Missense_Mutation_p.S336F	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	336					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.S336F(1)									GTGTGGCAGAGAGTTCACTGT	0.353																																					p.S336F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1007T	4						.						199.0	178.0	185.0					4																	100470258		2203	4300	6503	100689281	SO:0001583	missense	93587	exon8			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.1007C>T	4.37:g.100470258G>A	ENSP00000273962:p.Ser336Phe	Somatic		Capture	Illumina HiSeq	Phase_I	100689281	NM_001134665	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732114	0.30684	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.19806	2.12;2.12;2.12	5.33	0.408	0.16377	.	2.035180	0.01825	N	0.034298	T	0.13670	0.0331	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29701	-1.0003	10	0.66056	D	0.02	-0.1632	1.2858	0.02050	0.3203:0.1292:0.4017:0.1488	.	336	Q8TBZ6	RG9D2_HUMAN	F	336	ENSP00000378343:S336F;ENSP00000273962:S336F;ENSP00000378342:S336F	ENSP00000273962:S336F	S	-	2	0	RG9MTD2	100689281	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.011000	0.13264	0.035000	0.15519	0.655000	0.94253	TCT		0.353	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
TRMT10A	93587	broad.mit.edu	37	4	100479283	100479283	+	Missense_Mutation	SNP	G	G	T	rs562796852		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100479283G>T	ENST00000273962.3	-	3	583	c.271C>A	c.(271-273)Cgt>Agt	p.R91S	TRMT10A_ENST00000394876.2_Missense_Mutation_p.R91S|TRMT10A_ENST00000394877.3_Missense_Mutation_p.R91S	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	91	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R91S(1)									CTTCGAACACGTTTTCTGTCA	0.348																																					p.R91S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C271A	4						.						265.0	214.0	232.0					4																	100479283		2203	4300	6503	100698306	SO:0001583	missense	93587	exon3			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.271C>A	4.37:g.100479283G>T	ENSP00000273962:p.Arg91Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100698306	NM_001134665	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980052	0.74474	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.51325	2.05;2.05;2.05;1.33;0.71	5.78	4.94	0.65067	.	0.225944	0.47455	D	0.000232	T	0.64616	0.2614	M	0.85099	2.735	0.49687	D	0.999815	D	0.62365	0.991	P	0.54815	0.761	T	0.70313	-0.4906	10	0.51188	T	0.08	-3.884	13.2236	0.59903	0.1328:0.0:0.8672:0.0	.	91	Q8TBZ6	RG9D2_HUMAN	S	91	ENSP00000378343:R91S;ENSP00000273962:R91S;ENSP00000378342:R91S;ENSP00000397551:R91S;ENSP00000423628:R91S	ENSP00000273962:R91S	R	-	1	0	RG9MTD2	100698306	1.000000	0.71417	0.750000	0.31169	0.925000	0.55904	5.627000	0.67784	1.586000	0.49944	0.591000	0.81541	CGT		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
DAPP1	27071	broad.mit.edu	37	4	100761453	100761453	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100761453G>T	ENST00000512369.1	+	3	300	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	DAPP1_ENST00000296414.7_Missense_Mutation_p.D78Y	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	78	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)	p.D78Y(1)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TAGGGCCAAAGATTCTGTTAA	0.279																																					p.D78Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232T	4						.						37.0	33.0	34.0					4																	100761453		1788	4065	5853	100980476	SO:0001583	missense	27071	exon3			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.232G>T	4.37:g.100761453G>T	ENSP00000423602:p.Asp78Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100980476	NM_014395	Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218341	0.79464	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89617	-2.54;-2.54	5.35	5.35	0.76521	SH2 motif (5);	0.093628	0.64402	D	0.000001	D	0.94686	0.8286	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	D;D;D	0.66847	0.93;0.944;0.947	D	0.95140	0.8263	10	0.72032	D	0.01	-2.2768	18.6905	0.91581	0.0:0.0:1.0:0.0	.	78;78;78	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	Y	78	ENSP00000296414:D78Y;ENSP00000423602:D78Y	ENSP00000296414:D78Y	D	+	1	0	DAPP1	100980476	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.935000	0.92923	2.510000	0.84645	0.655000	0.94253	GAT		0.279	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1		
CLNK	116449	broad.mit.edu	37	4	10509604	10509604	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:10509604C>A	ENST00000226951.6	-	17	1202	c.963G>T	c.(961-963)gaG>gaT	p.E321D	CLNK_ENST00000515667.1_Missense_Mutation_p.E59D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	321	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.E321D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCATGAATGCCTCTTCCACTG	0.423																																					p.E321D	GBM(87;402 1286 6949 13902 35851)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G963T	4						.						113.0	103.0	106.0					4																	10509604		1948	4158	6106	10118702	SO:0001583	missense	116449	exon17			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.963G>T	4.37:g.10509604C>A	ENSP00000226951:p.Glu321Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10118702	NM_052964	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	4.410	0.075734	0.08485	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	D;D	0.88741	-2.42;-2.42	5.33	2.14	0.27477	SH2 motif (5);	0.708385	0.13357	N	0.393939	T	0.79353	0.4431	L	0.38733	1.17	0.80722	D	1	B	0.19331	0.035	B	0.17433	0.018	T	0.66532	-0.5900	10	0.17832	T	0.49	-15.5609	3.4035	0.07332	0.1955:0.5673:0.0:0.2371	.	321	Q7Z7G1	CLNK_HUMAN	D	321;59;285	ENSP00000226951:E321D;ENSP00000427256:E59D	ENSP00000226951:E321D	E	-	3	2	CLNK	10118702	0.966000	0.33281	0.992000	0.48379	0.015000	0.08874	0.268000	0.18571	0.719000	0.32188	-0.291000	0.09656	GAG		0.423	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
DNAJB14	79982	broad.mit.edu	37	4	100822202	100822202	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:100822202G>T	ENST00000442697.2	-	8	1277	c.1123C>A	c.(1123-1125)Ctt>Att	p.L375I		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	375						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L290I(1)		kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CCTTTATAAAGACTGGTAAGC	0.383																																					p.L375I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123A	4						.						86.0	84.0	85.0					4																	100822202		2203	4300	6503	101041225	SO:0001583	missense	79982	exon8			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.1123C>A	4.37:g.100822202G>T	ENSP00000404381:p.Leu375Ile	Somatic		Capture	Illumina HiSeq	Phase_I	101041225	NM_001031723	Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	G	6.632	0.485074	0.12641	.	.	ENSG00000164031	ENST00000442697	T	0.63744	-0.06	5.67	3.49	0.39957	.	0.199354	0.43747	N	0.000536	T	0.48642	0.1511	L	0.29908	0.895	0.43793	D	0.996335	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.38802	-0.9644	10	0.16420	T	0.52	.	15.7268	0.77766	0.0:0.0:0.73:0.27	.	375;290	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	I	375	ENSP00000404381:L375I	ENSP00000404381:L375I	L	-	1	0	DNAJB14	101041225	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	1.239000	0.32719	1.197000	0.43143	0.650000	0.86243	CTT		0.383	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2	
SLC39A8	64116	broad.mit.edu	37	4	103184218	103184218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:103184218C>A	ENST00000394833.2	-	8	1842	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	SLC39A8_ENST00000424970.2_Intron|SLC39A8_ENST00000356736.4_Nonsense_Mutation_p.E456*	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	456					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)	p.E456*(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATTCGATTTCTCCTGCATAC	0.348																																					p.E456X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1366T	4						.						118.0	113.0	115.0					4																	103184218		2203	4300	6503	103403241	SO:0001587	stop_gained	64116	exon9				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1366G>T	4.37:g.103184218C>A	ENSP00000378310:p.Glu456*	Somatic		Capture	Illumina HiSeq	Phase_I	103403241	NM_001135146	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Nonsense_Mutation	SNP	ENST00000394833.2	37	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	C	39	7.686358	0.98431	.	.	ENSG00000138821	ENST00000356736;ENST00000394833	.	.	.	5.3	4.44	0.53790	.	0.654376	0.16440	N	0.214350	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-11.4623	8.9601	0.35842	0.0:0.8421:0.0:0.1579	.	.	.	.	X	456	.	ENSP00000349174:E456X	E	-	1	0	SLC39A8	103403241	0.715000	0.27946	1.000000	0.80357	0.994000	0.84299	0.393000	0.20817	2.473000	0.83533	0.655000	0.94253	GAA		0.348	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154	
NFKB1	4790	broad.mit.edu	37	4	103451059	103451059	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:103451059G>A	ENST00000505458.1	+	3	383	c.106G>A	c.(106-108)Gca>Aca	p.A36T	NFKB1_ENST00000226574.4_Missense_Mutation_p.A36T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A36T			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	36					apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A36T(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	ACCACAGATGGCACTGCCAAC	0.348																																					p.A36T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	4						.						49.0	50.0	50.0					4																	103451059		2203	4299	6502	103670089	SO:0001583	missense	4790	exon3			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.106G>A	4.37:g.103451059G>A	ENSP00000424790:p.Ala36Thr	Somatic		Capture	Illumina HiSeq	Phase_I	103670089	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441347	0.43326	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000511926;ENST00000507079;ENST00000505458;ENST00000509165	T;T;T	0.36699	1.26;1.24;1.24	4.97	3.26	0.37387	.	1.780940	0.02865	N	0.130749	T	0.20414	0.0491	N	0.03608	-0.345	0.23823	N	0.996743	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17776	-1.0358	10	0.42905	T	0.14	.	6.9235	0.24401	0.0:0.6922:0.2068:0.101	.	36;36	P19838;P19838-2	NFKB1_HUMAN;.	T	36;36;44;44;36;36	ENSP00000226574:A36T;ENSP00000378297:A36T;ENSP00000424790:A36T	ENSP00000226574:A36T	A	+	1	0	NFKB1	103670089	0.675000	0.27558	0.995000	0.50966	0.989000	0.77384	0.111000	0.15458	0.626000	0.30322	0.591000	0.81541	GCA		0.348	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
CENPE	1062	broad.mit.edu	37	4	104029969	104029969	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:104029969G>T	ENST00000265148.3	-	48	8091	c.8002C>A	c.(8002-8004)Ctt>Att	p.L2668I	CENPE_ENST00000380026.3_Missense_Mutation_p.L2547I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2668	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L2631I(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGGACAAAGGCCTAAACTT	0.368																																					p.L2668I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8002A	4						.						94.0	93.0	94.0					4																	104029969		2203	4300	6503	104249418	SO:0001583	missense	1062	exon48			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.8002C>A	4.37:g.104029969G>T	ENSP00000265148:p.Leu2668Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104249418	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378821	0.61735	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.71103	-0.54;-0.52	5.19	4.34	0.51931	.	.	.	.	.	T	0.78855	0.4349	L	0.54323	1.7	0.25242	N	0.989746	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.66948	-0.5794	9	0.59425	D	0.04	.	8.6886	0.34254	0.101:0.0:0.899:0.0	.	2547;2668	Q02224-3;Q02224	.;CENPE_HUMAN	I	2668;2547	ENSP00000265148:L2668I;ENSP00000369365:L2547I	ENSP00000265148:L2668I	L	-	1	0	CENPE	104249418	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.257000	0.43240	2.418000	0.82041	0.655000	0.94253	CTT		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104057513	104057513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:104057513G>A	ENST00000265148.3	-	40	6396	c.6307C>T	c.(6307-6309)Ctt>Ttt	p.L2103F	CENPE_ENST00000380026.3_Missense_Mutation_p.L1982F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2103					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L2103F(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCTTCAAAAGCTCCTAAAGG	0.303																																					p.L2103F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6307T	4						.						55.0	54.0	54.0					4																	104057513		2202	4299	6501	104276962	SO:0001583	missense	1062	exon40			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6307C>T	4.37:g.104057513G>A	ENSP00000265148:p.Leu2103Phe	Somatic		Capture	Illumina HiSeq	Phase_I	104276962	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435177	0.62955	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	D;T	0.82711	-1.64;-0.51	5.26	5.26	0.73747	.	.	.	.	.	D	0.89639	0.6773	M	0.63843	1.955	0.28383	N	0.91942	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.83962	0.0322	9	0.59425	D	0.04	.	14.7332	0.69397	0.0:0.0:1.0:0.0	.	1982;2103	Q02224-3;Q02224	.;CENPE_HUMAN	F	2103;2103;1982	ENSP00000265148:L2103F;ENSP00000369365:L1982F	ENSP00000265148:L2103F	L	-	1	0	CENPE	104276962	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	5.068000	0.64364	2.619000	0.88677	0.637000	0.83480	CTT		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104080192	104080192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:104080192G>A	ENST00000265148.3	-	22	2665	c.2576C>T	c.(2575-2577)tCg>tTg	p.S859L	CENPE_ENST00000380026.3_Missense_Mutation_p.S834L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	859					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.S859L(1)|p.S859_S860insG(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCCAAACTCGAATCAAATTT	0.383																																					p.S859L												.	.	2	Insertion - In frame(1)|Substitution - Missense(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2576T	4						.						61.0	59.0	60.0					4																	104080192		2203	4299	6502	104299641	SO:0001583	missense	1062	exon22			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2576C>T	4.37:g.104080192G>A	ENSP00000265148:p.Ser859Leu	Somatic		Capture	Illumina HiSeq	Phase_I	104299641	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.574831	0.00887	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.72505	-0.66;-0.66;-0.66	5.03	3.86	0.44501	.	.	.	.	.	T	0.25938	0.0632	N	0.00289	-1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.35968	-0.9767	9	0.07482	T	0.82	.	0.909	0.01291	0.4971:0.1623:0.1844:0.1563	.	834;859	Q02224-3;Q02224	.;CENPE_HUMAN	L	859;859;834;859	ENSP00000265148:S859L;ENSP00000369365:S834L;ENSP00000423981:S859L	ENSP00000265148:S859L	S	-	2	0	CENPE	104299641	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.539000	0.23175	0.867000	0.35654	-0.312000	0.09012	TCG		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
RNF212	285498	broad.mit.edu	37	4	1073468	1073468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1073468G>A	ENST00000433731.2	-	8	534	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RNF212_ENST00000382968.5_Missense_Mutation_p.S158L			Q495C1	RN212_HUMAN	ring finger protein 212	158					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S158L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		AACTTCCATCGACTCCAGTCT	0.438																																					p.S158L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C473T	4						.						163.0	144.0	150.0					4																	1073468		2203	4300	6503	1063468	SO:0001583	missense	285498	exon8			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.473C>T	4.37:g.1073468G>A	ENSP00000389709:p.Ser158Leu	Somatic		Capture	Illumina HiSeq	Phase_I	1063468	NM_194439	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622119	0.28889	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	T	0.52295	0.67	3.66	1.9	0.25705	.	.	.	.	.	T	0.38427	0.1040	L	0.54323	1.7	0.52501	D	0.999952	B;B	0.21309	0.054;0.019	B;B	0.14578	0.011;0.006	T	0.22836	-1.0205	9	0.59425	D	0.04	-2.67	5.8096	0.18460	0.2529:0.0:0.7471:0.0	.	158;158	Q495C1;Q495C1-5	RN212_HUMAN;.	L	158	ENSP00000389709:S158L	ENSP00000372428:S158L	S	-	2	0	RNF212	1063468	0.002000	0.14202	0.928000	0.36995	0.026000	0.11368	0.599000	0.24089	0.332000	0.23536	-0.141000	0.14075	TCG		0.438	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439	
TACR3	6870	broad.mit.edu	37	4	104579559	104579559	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:104579559A>C	ENST00000304883.2	-	2	690	c.550T>G	c.(550-552)Tat>Gat	p.Y184D		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	184					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.Y184D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATAGCCATATACCTATATAAA	0.348																																					p.Y184D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T550G	4						.						63.0	62.0	62.0					4																	104579559		2203	4300	6503	104799008	SO:0001630	splice_region_variant	6870	exon2			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.549-1T>G	4.37:g.104579559A>C		Somatic		Capture	Illumina HiSeq	Phase_I	104799008	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026504	0.75390	.	.	ENSG00000169836	ENST00000304883	D	0.88431	-2.38	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.170870	0.53938	D	0.000052	D	0.97043	0.9034	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98676	1.0690	10	0.87932	D	0	.	15.0504	0.71865	1.0:0.0:0.0:0.0	.	184	P29371	NK3R_HUMAN	D	184	ENSP00000303325:Y184D	ENSP00000303325:Y184D	Y	-	1	0	TACR3	104799008	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.252000	0.89840	2.147000	0.66899	0.378000	0.23410	TAT		0.348	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	Missense_Mutation
NPNT	255743	broad.mit.edu	37	4	106861718	106861718	+	Nonsense_Mutation	SNP	C	C	T	rs371895067		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:106861718C>T	ENST00000379987.2	+	7	904	c.688C>T	c.(688-690)Cga>Tga	p.R230*	NPNT_ENST00000427316.2_Nonsense_Mutation_p.R260*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.R230*|NPNT_ENST00000453617.2_Nonsense_Mutation_p.R247*|NPNT_ENST00000506666.1_Nonsense_Mutation_p.R260*|NPNT_ENST00000305572.8_Nonsense_Mutation_p.R230*	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	230	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R230*(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAGCTTTGCTCGATGTTATAA	0.418																																					p.R260X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C778T	4						.	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	181.0	159.0	167.0		688,739,778,688,778	4.4	0.2	4		167	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	NPNT	NM_001033047.2,NM_001184690.1,NM_001184691.1,NM_001184692.1,NM_001184693.1	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	230/566,247/583,260/596,230/537,260/567	106861718	1,13005	2203	4300	6503	107081167	SO:0001587	stop_gained	255743	exon8				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.688C>T	4.37:g.106861718C>T	ENSP00000369323:p.Arg230*	Somatic		Capture	Illumina HiSeq	Phase_I	107081167	NM_001184693	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Nonsense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.516621|4.516621	0.85495|0.85495	2.27E-4|2.27E-4	0.0|0.0	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	.|.	.|.	.|.	5.29|5.29	4.44|4.44	0.53790|0.53790	.|.	0.344802|.	0.29087|.	N|.	0.013184|.	.|T	.|0.54854	.|0.1884	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64262	.|-0.6449	.|3	0.11794|.	T|.	0.64|.	.|.	10.9623|10.9623	0.47393|0.47393	0.1463:0.7129:0.1408:0.0|0.1463:0.7129:0.1408:0.0	.|.	.|.	.|.	.|.	X|L	230;247;260;230;230;260;277|206	.|.	ENSP00000302557:R230X|.	R|S	+|+	1|2	2|0	NPNT|NPNT	107081167|107081167	0.000000|0.000000	0.05858|0.05858	0.218000|0.218000	0.23776|0.23776	0.227000|0.227000	0.25037|0.25037	0.581000|0.581000	0.23819|0.23819	1.210000|1.210000	0.43336|0.43336	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.418	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278	
TBCK	93627	broad.mit.edu	37	4	107154151	107154151	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:107154151A>C	ENST00000273980.5	-	18	2030	c.1583T>G	c.(1582-1584)tTt>tGt	p.F528C	TBCK_ENST00000432496.2_Missense_Mutation_p.F528C|TBCK_ENST00000394708.2_Missense_Mutation_p.F528C|TBCK_ENST00000361687.4_Missense_Mutation_p.F465C|TBCK_ENST00000394706.3_Missense_Mutation_p.F489C					TBC1 domain containing kinase									p.F528C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACACGCCTAAATTTTGCATG	0.363																																					p.F489C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1466G	4						.						135.0	130.0	132.0					4																	107154151		2203	4300	6503	107373600	SO:0001583	missense	93627	exon17				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1583T>G	4.37:g.107154151A>C	ENSP00000273980:p.Phe528Cys	Somatic		Capture	Illumina HiSeq	Phase_I	107373600	NM_001163437		Missense_Mutation	SNP	ENST00000273980.5	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749885	0.89753	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.46	5.46	0.80206	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.984;0.991;0.987	T	0.21586	-1.0241	10	0.87932	D	0	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	528;489;465	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	C	528;528;465;489;528	ENSP00000273980:F528C;ENSP00000405847:F528C;ENSP00000355338:F465C;ENSP00000378196:F489C;ENSP00000378198:F528C	ENSP00000273980:F528C	F	-	2	0	TBCK	107373600	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.141000	0.94612	2.073000	0.62155	0.533000	0.62120	TTT		0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115	
CYP2U1	113612	broad.mit.edu	37	4	108866558	108866558	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:108866558C>A	ENST00000332884.6	+	2	1198	c.923C>A	c.(922-924)tCt>tAt	p.S308Y	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.S99Y	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	308					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S308Y(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CATCAAGAGTCTCTGGATAGA	0.368																																					p.S308Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C923A	4						.						57.0	57.0	57.0					4																	108866558		2203	4300	6503	109086007	SO:0001583	missense	113612	exon2			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.923C>A	4.37:g.108866558C>A	ENSP00000333212:p.Ser308Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	109086007	NM_183075	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467261	0.63625	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.70282	-0.47;-0.47	5.78	4.88	0.63580	.	0.199123	0.51477	D	0.000081	T	0.80476	0.4630	M	0.76938	2.355	0.38098	D	0.937163	P	0.45126	0.851	P	0.53266	0.722	D	0.84692	0.0723	10	0.87932	D	0	.	15.4694	0.75429	0.0:0.762:0.2379:0.0	.	308	Q7Z449	CP2U1_HUMAN	Y	308;265;99	ENSP00000333212:S308Y;ENSP00000423667:S99Y	ENSP00000333212:S308Y	S	+	2	0	CYP2U1	109086007	0.990000	0.36364	0.991000	0.47740	0.977000	0.68977	2.946000	0.49050	2.724000	0.93272	0.563000	0.77884	TCT		0.368	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075	
OSTC	58505	broad.mit.edu	37	4	109578755	109578755	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:109578755T>C	ENST00000361564.4	+	3	455	c.383T>C	c.(382-384)gTc>gCc	p.V128A	OSTC_ENST00000512478.2_Missense_Mutation_p.V128A	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	128					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)		p.V128A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCGTCTGTGTCCTATTGAGT	0.368																																					p.V128A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	4						.						76.0	72.0	73.0					4																	109578755		2203	4300	6503	109798204	SO:0001583	missense	58505	exon3			AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.383T>C	4.37:g.109578755T>C	ENSP00000354676:p.Val128Ala	Somatic		Capture	Illumina HiSeq	Phase_I	109798204	NM_021227	A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.730795	0.89390	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.79141	-1.24;-1.24	4.77	4.77	0.60923	.	0.070582	0.56097	U	0.000035	D	0.84911	0.5577	M	0.84846	2.72	0.80722	D	1	D	0.56746	0.977	P	0.52424	0.698	D	0.87078	0.2164	9	.	.	.	.	14.5667	0.68182	0.0:0.0:0.0:1.0	.	128	Q9NRP0	OSTC_HUMAN	A	128	ENSP00000354676:V128A;ENSP00000426167:V128A	.	V	+	2	0	OSTC	109798204	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	7.597000	0.82733	1.897000	0.54924	0.445000	0.29226	GTC		0.368	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227	
HS3ST1	9957	broad.mit.edu	37	4	11400771	11400771	+	Missense_Mutation	SNP	C	C	T	rs370389171		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:11400771C>T	ENST00000002596.5	-	2	2033	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	287					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.E287K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGAAAATATTCGTGCAGTTTA	0.488																																					p.E287K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G859A	4						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81.0	84.0	83.0		859	5.5	0.9	4		83	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	287/308	11400771	1,13005	2203	4300	6503	11009869	SO:0001583	missense	9957	exon2			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.859G>A	4.37:g.11400771C>T	ENSP00000002596:p.Glu287Lys	Somatic		Capture	Illumina HiSeq	Phase_I	11009869	NM_005114	B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191182	0.09547	2.27E-4	0.0	ENSG00000002587	ENST00000002596	T	0.55930	0.49	5.49	5.49	0.81192	Sulfotransferase domain (1);	0.350601	0.29653	N	0.011541	T	0.31606	0.0802	N	0.03177	-0.4	0.43708	D	0.99617	B	0.14438	0.01	B	0.10450	0.005	T	0.15607	-1.0431	10	0.16896	T	0.51	.	18.3674	0.90396	0.0:1.0:0.0:0.0	.	287	O14792	HS3S1_HUMAN	K	287	ENSP00000002596:E287K	ENSP00000002596:E287K	E	-	1	0	HS3ST1	11009869	0.996000	0.38824	0.918000	0.36340	0.411000	0.31082	2.461000	0.45040	2.571000	0.86741	0.655000	0.94253	GAA		0.488	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
COL25A1	84570	broad.mit.edu	37	4	109780851	109780851	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:109780851C>T	ENST00000399132.1	-	24	1811	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	COL25A1_ENST00000399126.1_Silent_p.E427E|COL25A1_ENST00000399127.1_Silent_p.E408E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.E427E(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGTCTATGATCTCAGTGGCTC	0.502																																					p.E427E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1281A	4						.						194.0	191.0	192.0					4																	109780851		1985	4154	6139	110000300	SO:0001819	synonymous_variant	84570	exon23			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1281G>A	4.37:g.109780851C>T		Somatic		Capture	Illumina HiSeq	Phase_I	110000300	NM_198721		Silent	SNP	ENST00000399132.1	37	CCDS43258.1																																																																																				0.502	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
CCDC109B	55013	broad.mit.edu	37	4	110603861	110603861	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:110603861T>G	ENST00000394650.4	+	5	708	c.575T>G	c.(574-576)aTt>aGt	p.I192S		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	192					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)	p.I104S(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGGAGAAAATTGACCACCTG	0.403																																					p.I192S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T575G	4						.						94.0	89.0	91.0					4																	110603861		2203	4300	6503	110823310	SO:0001583	missense	55013	exon5			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.575T>G	4.37:g.110603861T>G	ENSP00000378145:p.Ile192Ser	Somatic		Capture	Illumina HiSeq	Phase_I	110823310	NM_017918	A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227641	0.79576	.	.	ENSG00000005059	ENST00000394650	T	0.32023	1.47	6.04	6.04	0.98038	Coiled-coil domain containing protein 109, C-terminal (1);	0.124461	0.53938	D	0.000055	T	0.55114	0.1900	M	0.77820	2.39	0.42674	D	0.99352	P	0.51240	0.943	P	0.60236	0.871	T	0.57406	-0.7817	10	0.52906	T	0.07	-26.4906	16.5885	0.84745	0.0:0.0:0.0:1.0	.	192	Q9NWR8	C109B_HUMAN	S	192	ENSP00000378145:I192S	ENSP00000378145:I192S	I	+	2	0	CCDC109B	110823310	1.000000	0.71417	0.944000	0.38274	0.755000	0.42902	6.950000	0.75977	2.317000	0.78254	0.460000	0.39030	ATT		0.403	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918	
CFI	3426	broad.mit.edu	37	4	110662242	110662242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:110662242G>A	ENST00000394634.2	-	13	1766	c.1559C>T	c.(1558-1560)gCc>gTc	p.A520V	CFI_ENST00000394635.3_Missense_Mutation_p.A528V|CFI_ENST00000512148.1_Missense_Mutation_p.A513V	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	520	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A520V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCCTTTACAGGCATCGATGGA	0.458																																					p.A520V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559T	4						.						142.0	150.0	147.0					4																	110662242		2203	4300	6503	110881691	SO:0001583	missense	3426	exon13			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1559C>T	4.37:g.110662242G>A	ENSP00000378130:p.Ala520Val	Somatic		Capture	Illumina HiSeq	Phase_I	110881691	NM_000204	O60442	Missense_Mutation	SNP	ENST00000394634.2	37	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335431	0.81801	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.93426	-3.22;-3.22;-3.22	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.246450	0.38492	N	0.001679	D	0.93455	0.7912	L	0.39397	1.21	0.37873	D	0.930114	P;D;D	0.57257	0.885;0.979;0.972	P;P;P	0.58721	0.666;0.844;0.821	D	0.94762	0.7937	10	0.87932	D	0	-14.9939	12.9092	0.58171	0.0:0.1767:0.8233:0.0	.	528;513;520	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	V	528;520;513	ENSP00000378131:A528V;ENSP00000378130:A520V;ENSP00000427438:A513V	ENSP00000378130:A520V	A	-	2	0	CFI	110881691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.461000	0.73522	2.433000	0.82419	0.644000	0.83932	GCC		0.458	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
RRH	10692	broad.mit.edu	37	4	110754391	110754391	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:110754391C>T	ENST00000317735.4	+	2	237	c.203C>T	c.(202-204)gCt>gTt	p.A68V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	68					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A68V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ATTAACCTGGCTGTTACTGAT	0.413																																					p.A68V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	4						.						99.0	94.0	95.0					4																	110754391		2203	4300	6503	110973840	SO:0001583	missense	10692	exon2			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.203C>T	4.37:g.110754391C>T	ENSP00000314992:p.Ala68Val	Somatic		Capture	Illumina HiSeq	Phase_I	110973840	NM_006583	A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120264	0.94385	.	.	ENSG00000180245	ENST00000317735	T	0.56275	0.47	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80096	-0.1525	10	0.72032	D	0.01	.	18.4596	0.90734	0.0:1.0:0.0:0.0	.	68	O14718	OPSX_HUMAN	V	68	ENSP00000314992:A68V	ENSP00000314992:A68V	A	+	2	0	RRH	110973840	1.000000	0.71417	0.962000	0.40283	0.997000	0.91878	7.776000	0.85560	2.418000	0.82041	0.591000	0.81541	GCT		0.413	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583	
EGF	1950	broad.mit.edu	37	4	110909853	110909853	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:110909853A>G	ENST00000265171.5	+	18	3167	c.2722A>G	c.(2722-2724)Att>Gtt	p.I908V	EGF_ENST00000509793.1_Missense_Mutation_p.I866V|EGF_ENST00000503392.1_Missense_Mutation_p.I908V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	908	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.I908V(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGAGATGGGATTCACTGTCT	0.567																																					p.I908V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2722G	4						.						151.0	144.0	146.0					4																	110909853		2203	4300	6503	111129302	SO:0001583	missense	1950	exon18			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2722A>G	4.37:g.110909853A>G	ENSP00000265171:p.Ile908Val	Somatic		Capture	Illumina HiSeq	Phase_I	111129302	NM_001963	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	6.667	0.491652	0.12702	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.91843	1.75;-2.92;-2.22	5.25	-4.66	0.03329	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.788314	0.11781	N	0.530152	T	0.76997	0.4066	N	0.05441	-0.05	0.09310	N	1	B;B;B	0.18310	0.027;0.022;0.027	B;B;B	0.23419	0.046;0.027;0.046	T	0.65907	-0.6054	10	0.22706	T	0.39	.	3.951	0.09369	0.1494:0.4827:0.2278:0.1401	.	908;866;908	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	866;908;908	ENSP00000424316:I866V;ENSP00000265171:I908V;ENSP00000421384:I908V	ENSP00000265171:I908V	I	+	1	0	EGF	111129302	0.000000	0.05858	0.081000	0.20488	0.390000	0.30446	-0.038000	0.12144	-0.256000	0.09473	-1.063000	0.02288	ATT		0.567	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
ENPEP	2028	broad.mit.edu	37	4	111409741	111409741	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:111409741C>A	ENST00000265162.5	+	2	1031	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	230					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S230Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCAGGAAATCTTTTCCTTGT	0.428																																					p.S230Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689A	4						.						82.0	77.0	79.0					4																	111409741		2203	4300	6503	111629190	SO:0001583	missense	2028	exon2			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.689C>A	4.37:g.111409741C>A	ENSP00000265162:p.Ser230Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	111629190	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685242	0.68157	.	.	ENSG00000138792	ENST00000265162	T	0.04194	3.68	5.03	4.19	0.49359	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.052176	0.85682	D	0.000000	T	0.23171	0.0560	M	0.85777	2.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.02161	-1.1203	10	0.87932	D	0	.	13.3933	0.60836	0.0:0.9234:0.0:0.0766	.	230	Q07075	AMPE_HUMAN	Y	230	ENSP00000265162:S230Y	ENSP00000265162:S230Y	S	+	2	0	ENPEP	111629190	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.487000	0.81328	1.115000	0.41800	0.655000	0.94253	TCT		0.428	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
ENPEP	2028	broad.mit.edu	37	4	111463981	111463981	+	Missense_Mutation	SNP	C	C	T	rs149676891		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:111463981C>T	ENST00000265162.5	+	12	2224	c.1882C>T	c.(1882-1884)Cgt>Tgt	p.R628C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	628					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R628C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TGGGTTTTATCGTGTAAATTA	0.358																																					p.R628C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1882T	4						.	C	CYS/ARG	0,4406		0,0,2203	108.0	111.0	110.0		1882	5.5	1.0	4	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPEP	NM_001977.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	628/958	111463981	1,13005	2203	4300	6503	111683430	SO:0001583	missense	2028	exon12			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1882C>T	4.37:g.111463981C>T	ENSP00000265162:p.Arg628Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111683430	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164859	0.78339	0.0	1.16E-4	ENSG00000138792	ENST00000265162	T	0.10477	2.87	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58775	-0.7577	10	0.87932	D	0	.	17.6176	0.88072	0.0:1.0:0.0:0.0	.	628	Q07075	AMPE_HUMAN	C	628	ENSP00000265162:R628C	ENSP00000265162:R628C	R	+	1	0	ENPEP	111683430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.169000	0.58223	2.611000	0.88343	0.655000	0.94253	CGT		0.358	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
AP1AR	55435	broad.mit.edu	37	4	113181938	113181938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:113181938G>T	ENST00000274000.5	+	5	557	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	AP1AR_ENST00000309703.6_Nonsense_Mutation_p.E68*	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	68					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)	p.E68*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TACTGAGGAAGAAATTGTTGA	0.323																																					p.E68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	4						.						30.0	30.0	30.0					4																	113181938		2202	4292	6494	113401387	SO:0001587	stop_gained	55435	exon5			AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.202G>T	4.37:g.113181938G>T	ENSP00000274000:p.Glu68*	Somatic		Capture	Illumina HiSeq	Phase_I	113401387	NM_001128426	B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Nonsense_Mutation	SNP	ENST00000274000.5	37	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	38	7.185475	0.98121	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.8324	19.801	0.96507	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000274000:E68X	E	+	1	0	AP1AR	113401387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.779000	0.85648	2.682000	0.91365	0.585000	0.79938	GAA		0.323	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569	
ALPK1	80216	broad.mit.edu	37	4	113352969	113352969	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:113352969G>A	ENST00000458497.1	+	11	2545	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	ALPK1_ENST00000177648.9_Missense_Mutation_p.D756N|ALPK1_ENST00000504176.2_Missense_Mutation_p.D678N	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	756							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D756N(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AACCAACTGCGATGTCAAAGA	0.468																																					p.D756N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2266A	4						.						60.0	67.0	65.0					4																	113352969		2203	4300	6503	113572418	SO:0001583	missense	80216	exon11			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2266G>A	4.37:g.113352969G>A	ENSP00000398048:p.Asp756Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113572418	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453011	0.26161	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02863	4.21;4.21;4.13	5.61	1.08	0.20341	.	1.039370	0.07498	N	0.906812	T	0.02533	0.0077	L	0.34521	1.04	0.09310	N	1	B;B;B	0.18968	0.006;0.032;0.008	B;B;B	0.09377	0.004;0.002;0.002	T	0.49818	-0.8899	10	0.16896	T	0.51	-4.3433	5.6758	0.17747	0.3434:0.0:0.5165:0.1401	.	678;678;756	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	N	756;756;678	ENSP00000398048:D756N;ENSP00000177648:D756N;ENSP00000426044:D678N	ENSP00000177648:D756N	D	+	1	0	ALPK1	113572418	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	1.004000	0.29822	0.232000	0.21100	0.655000	0.94253	GAT		0.468	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
ZGRF1	55345	broad.mit.edu	37	4	113508637	113508637	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:113508637G>T	ENST00000505019.1	-	12	3701	c.3576C>A	c.(3574-3576)gtC>gtA	p.V1192V		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1192						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V1192V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTTCATTGACAGCATCAC	0.413																																					p.V1192V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3576A	4						.						229.0	236.0	233.0					4																	113508637		2203	4300	6503	113728086	SO:0001819	synonymous_variant	0	exon12																														ENST00000505019.1:c.3576C>A	4.37:g.113508637G>T		Somatic		Capture	Illumina HiSeq	Phase_I	113728086	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	IGR	SNP	ENST00000505019.1	37																																																																																					0.413	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
ANK2	287	broad.mit.edu	37	4	114276314	114276314	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114276314C>T	ENST00000357077.4	+	38	6593	c.6540C>T	c.(6538-6540)ctC>ctT	p.L2180L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.L2147L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2180					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L2180L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATTTCCACTCGACTACATGA	0.458																																					p.L2180L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6540T	4						.						127.0	119.0	122.0					4																	114276314		2203	4300	6503	114495763	SO:0001819	synonymous_variant	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6540C>T	4.37:g.114276314C>T		Somatic		Capture	Illumina HiSeq	Phase_I	114495763	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114277407	114277407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114277407G>T	ENST00000357077.4	+	38	7686	c.7633G>T	c.(7633-7635)Gaa>Taa	p.E2545*	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E2512*|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2545					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E2545*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGCTCTGAAGAAGTCAGCTA	0.507																																					p.E2545X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7633T	4						.						112.0	115.0	114.0					4																	114277407		2203	4300	6503	114496856	SO:0001587	stop_gained	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7633G>T	4.37:g.114277407G>T	ENSP00000349588:p.Glu2545*	Somatic		Capture	Illumina HiSeq	Phase_I	114496856	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	48	14.861175	0.99813	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	X	2545;2512	.	.	E	+	1	0	ANK2	114496856	1.000000	0.71417	0.988000	0.46212	0.917000	0.54804	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	GAA		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114281999	114281999	+	Missense_Mutation	SNP	C	C	T	rs72556376	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114281999C>T	ENST00000357077.4	+	39	10755	c.10702C>T	c.(10702-10704)Cgg>Tgg	p.R3568W	ANK2_ENST00000510275.2_Missense_Mutation_p.R135W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1483W|ANK2_ENST00000264366.6_Missense_Mutation_p.R3535W|ANK2_ENST00000509550.1_Missense_Mutation_p.R659W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1474W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3568					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3568W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAGCAGGAACGGATCGAGGA	0.448													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18518	0.0		0.001	False		,,,				2504	0.0				p.R1483W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4447T	4						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	137.0	119.0	125.0		4420,10702,4447	3.4	1.0	4	dbSNP_130	125	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	1474/1864,3568/3958,1483/1873	114281999	2,13004	2203	4300	6503	114501448	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10702C>T	4.37:g.114281999C>T	ENSP00000349588:p.Arg3568Trp	Somatic		Capture	Illumina HiSeq	Phase_I	114501448	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912094|3.912094	0.72983|0.72983	0.0|0.0	2.33E-4|2.33E-4	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000504415	D;D;D;D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22|.	5.28|5.28	3.44|3.44	0.39384|0.39384	.|.	0.000000|.	0.46145|.	D|.	0.000304|.	T|T	0.66470|0.66470	0.2792|0.2792	M|M	0.76574|0.76574	2.34|2.34	0.36949|0.36949	D|D	0.892789|0.892789	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;0.997|.	D;D;D;D;P;P|.	0.76575|.	0.937;0.988;0.937;0.929;0.901;0.84|.	T|T	0.71234|0.71234	-0.4653|-0.4653	10|5	0.87932|.	D|.	0|.	.|.	9.7235|9.7235	0.40317|0.40317	0.2187:0.7057:0.0:0.0756|0.2187:0.7057:0.0:0.0756	.|.	659;518;484;1483;3568;1474|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	W|M	1474;518;1483;3568;3535;1474;659;135;578|484;135	ENSP00000421067:R1474W;ENSP00000378044:R1483W;ENSP00000349588:R3568W;ENSP00000264366:R3535W;ENSP00000426944:R659W;ENSP00000421023:R135W;ENSP00000422498:R578W|.	ENSP00000264366:R3535W|.	R|T	+|+	1|2	2|0	ANK2|ANK2	114501448|114501448	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	3.432000|3.432000	0.52824|0.52824	1.238000|1.238000	0.43771|0.43771	0.557000|0.557000	0.71058|0.71058	CGG|ACG		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114288948	114288948	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114288948C>A	ENST00000357077.4	+	42	11312	c.11259C>A	c.(11257-11259)ttC>ttA	p.F3753L	ANK2_ENST00000510275.2_Missense_Mutation_p.F320L|ANK2_ENST00000394537.3_Missense_Mutation_p.F1668L|ANK2_ENST00000264366.6_Missense_Mutation_p.F3720L|ANK2_ENST00000509550.1_Missense_Mutation_p.F844L|ANK2_ENST00000506722.1_Missense_Mutation_p.F1659L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3753					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.F3753L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACAGGATTTCTCAGGGAAAA	0.448																																					p.F1668L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5004A	4						.						95.0	97.0	97.0					4																	114288948		2203	4300	6503	114508397	SO:0001583	missense	287	exon41			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11259C>A	4.37:g.114288948C>A	ENSP00000349588:p.Phe3753Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114508397	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.043495|3.043495	0.55003|0.55003	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960	T;T;T;T;T;D;D|.	0.95788|.	-0.1;-0.08;-0.17;-0.18;-0.86;-1.92;-3.81|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.213578|.	0.32970|.	N|.	0.005440|.	T|T	0.66228|0.66228	0.2768|0.2768	L|L	0.38175|0.38175	1.15|1.15	0.43126|0.43126	D|D	0.994858|0.994858	B;B;B;B;B;B|.	0.24043|.	0.001;0.002;0.003;0.012;0.096;0.001|.	B;B;B;B;B;B|.	0.24006|.	0.001;0.002;0.002;0.012;0.05;0.004|.	T|T	0.61098|0.61098	-0.7131|-0.7131	10|5	0.14252|.	T|.	0.57|.	.|.	19.6502|19.6502	0.95798|0.95798	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	844;703;669;1668;3753;1659|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	L|I	1659;703;1668;3753;3720;1659;844;320;763|670	ENSP00000421067:F1659L;ENSP00000378044:F1668L;ENSP00000349588:F3753L;ENSP00000264366:F3720L;ENSP00000426944:F844L;ENSP00000421023:F320L;ENSP00000422498:F763L|.	ENSP00000264366:F3720L|.	F|L	+|+	3|1	2|0	ANK2|ANK2	114508397|114508397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	3.003000|3.003000	0.49505|0.49505	2.651000|2.651000	0.90000|0.90000	0.491000|0.491000	0.48974|0.48974	TTC|CTC		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114294532	114294532	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114294532A>G	ENST00000357077.4	+	45	11839	c.11786A>G	c.(11785-11787)aAc>aGc	p.N3929S	ANK2_ENST00000510275.2_Missense_Mutation_p.N527S|ANK2_ENST00000394537.3_Missense_Mutation_p.N1844S|ANK2_ENST00000264366.6_Missense_Mutation_p.N3896S|ANK2_ENST00000509550.1_Missense_Mutation_p.N1020S|ANK2_ENST00000506722.1_Missense_Mutation_p.N1835S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3929					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.N3929S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACCTGTCAACATCGAGGAA	0.448																																					p.N1844S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5531G	4						.						116.0	111.0	113.0					4																	114294532		2203	4300	6503	114513981	SO:0001583	missense	287	exon44			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11786A>G	4.37:g.114294532A>G	ENSP00000349588:p.Asn3929Ser	Somatic		Capture	Illumina HiSeq	Phase_I	114513981	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243596	0.22796	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;T;T;T;T;D;D	0.95656	-0.1;-0.08;-0.11;-0.13;-0.86;-1.85;-3.77	6.06	-11.4	0.00090	.	1.925600	0.02573	N	0.097971	D	0.85177	0.5637	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.0;0.0;0.002;0.001	T	0.75572	-0.3271	10	0.02654	T	1	.	13.1289	0.59369	0.589:0.3138:0.0972:0.0	.	1020;6;7;910;876;1844;3929;1835	E9PCH6;A5XEJ9;E9PB80;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.;.;.	S	1835;910;1844;3929;3896;1835;1020;527;939	ENSP00000421067:N1835S;ENSP00000378044:N1844S;ENSP00000349588:N3929S;ENSP00000264366:N3896S;ENSP00000426944:N1020S;ENSP00000421023:N527S;ENSP00000422498:N939S	ENSP00000264366:N3896S	N	+	2	0	ANK2	114513981	0.000000	0.05858	0.000000	0.03702	0.949000	0.60115	-4.536000	0.00219	-2.157000	0.00789	-1.231000	0.01572	AAC		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
TRAM1L1	133022	broad.mit.edu	37	4	118005761	118005761	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:118005761C>A	ENST00000310754.4	-	1	975	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	263	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V263V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAATTAAAGTCACAAGTCTAC	0.433																																					p.V263V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G789T	4						.						69.0	66.0	67.0					4																	118005761		2203	4300	6503	118225209	SO:0001819	synonymous_variant	133022	exon1			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.789G>T	4.37:g.118005761C>A		Somatic		Capture	Illumina HiSeq	Phase_I	118225209	NM_152402	Q8N2L7	Silent	SNP	ENST00000310754.4	37	CCDS3707.1																																																																																				0.433	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
TRAM1L1	133022	broad.mit.edu	37	4	118006295	118006295	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:118006295G>T	ENST00000310754.4	-	1	441	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	85					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F85L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGCATGTAGAAGAAAACCG	0.428																																					p.F85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C255A	4						.						78.0	76.0	77.0					4																	118006295		2203	4300	6503	118225743	SO:0001583	missense	133022	exon1			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.255C>A	4.37:g.118006295G>T	ENSP00000309402:p.Phe85Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118225743	NM_152402	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993977	0.74703	.	.	ENSG00000174599	ENST00000310754	T	0.62105	0.05	4.29	3.45	0.39498	TRAM1-like protein (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78922	-0.2013	10	0.87932	D	0	0.1228	6.7085	0.23264	0.2059:0.0:0.7941:0.0	.	85	Q8N609	TR1L1_HUMAN	L	85	ENSP00000309402:F85L	ENSP00000309402:F85L	F	-	3	2	TRAM1L1	118225743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.715000	0.37971	1.397000	0.46682	0.655000	0.94253	TTC		0.428	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
NDST3	9348	broad.mit.edu	37	4	119059216	119059216	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119059216G>A	ENST00000296499.5	+	5	1635	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	NDST3_ENST00000433996.2_Missense_Mutation_p.G330D	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	411	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G411D(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGGAGCACGGCATTCCAACG	0.418																																					p.G411D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	4						.						88.0	88.0	88.0					4																	119059216		2203	4300	6503	119278664	SO:0001583	missense	9348	exon5			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1232G>A	4.37:g.119059216G>A	ENSP00000296499:p.Gly411Asp	Somatic		Capture	Illumina HiSeq	Phase_I	119278664	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543643	0.27563	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.42900	1.26;0.96	5.39	5.39	0.77823	.	0.307287	0.40302	N	0.001138	T	0.61899	0.2384	M	0.72894	2.215	0.33478	D	0.587052	D;P	0.55800	0.973;0.954	P;P	0.59825	0.831;0.864	T	0.69950	-0.5006	10	0.42905	T	0.14	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	330;411	B4DI67;O95803	.;NDST3_HUMAN	D	411;330	ENSP00000296499:G411D;ENSP00000396625:G330D	ENSP00000296499:G411D	G	+	2	0	NDST3	119278664	1.000000	0.71417	0.986000	0.45419	0.171000	0.22731	4.446000	0.60014	2.519000	0.84933	0.557000	0.71058	GGC		0.418	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
PRSS12	8492	broad.mit.edu	37	4	119239566	119239566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119239566C>A	ENST00000296498.3	-	5	1399	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	373	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E373*(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGCATCTTCTTTATGGCCA	0.507																																					p.E373X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1117T	4						.						116.0	108.0	111.0					4																	119239566		2203	4300	6503	119459014	SO:0001587	stop_gained	8492	exon5			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1117G>T	4.37:g.119239566C>A	ENSP00000296498:p.Glu373*	Somatic		Capture	Illumina HiSeq	Phase_I	119459014	NM_003619	Q9UP16	Nonsense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	42	9.424210	0.99167	.	.	ENSG00000164099	ENST00000296498	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	ENSP00000296498:E373X	E	-	1	0	PRSS12	119459014	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.398000	0.79919	2.730000	0.93505	0.591000	0.81541	GAA		0.507	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
SEC24D	9871	broad.mit.edu	37	4	119652620	119652620	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119652620G>A	ENST00000280551.6	-	21	2957	c.2719C>T	c.(2719-2721)Cgt>Tgt	p.R907C	SEC24D_ENST00000379735.5_Missense_Mutation_p.R908C|SEC24D_ENST00000511481.1_Missense_Mutation_p.R538C|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	907					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.R907C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TCAGAGCAACGAACGGCAGCA	0.483																																					p.R907C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2719T	4						.						130.0	119.0	123.0					4																	119652620		2203	4300	6503	119872068	SO:0001583	missense	9871	exon21			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2719C>T	4.37:g.119652620G>A	ENSP00000280551:p.Arg907Cys	Somatic		Capture	Illumina HiSeq	Phase_I	119872068	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722446	0.96839	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	T;T;T	0.33865	1.39;1.39;1.39	4.85	4.85	0.62838	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.76911	-0.2784	10	0.87932	D	0	-17.8555	18.3355	0.90286	0.0:0.0:1.0:0.0	.	69;908;907	Q9NWP5;O94855-2;O94855	.;.;SC24D_HUMAN	C	907;908;538	ENSP00000280551:R907C;ENSP00000369059:R908C;ENSP00000425491:R538C	ENSP00000280551:R907C	R	-	1	0	SEC24D	119872068	1.000000	0.71417	0.360000	0.25837	0.997000	0.91878	7.868000	0.87116	2.394000	0.81467	0.585000	0.79938	CGT		0.483	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SEC24D	9871	broad.mit.edu	37	4	119726998	119726998	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119726998C>A	ENST00000280551.6	-	7	1151	c.913G>T	c.(913-915)Gga>Tga	p.G305*	SEC24D_ENST00000379735.5_Splice_Site_p.G306*|SEC24D_ENST00000419654.2_De_novo_Start_OutOfFrame			O94855	SC24D_HUMAN	SEC24 family member D	305					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.G305*(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAACAAATACCTTGGTCTTGT	0.388																																					p.G305X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G913T	4						.						141.0	129.0	133.0					4																	119726998		2203	4300	6503	119946446	SO:0001630	splice_region_variant	9871	exon7			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.913+1G>T	4.37:g.119726998C>A		Somatic		Capture	Illumina HiSeq	Phase_I	119946446	NM_014822	Q8IYI7	Nonsense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	39	7.664221	0.98419	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8427	17.5094	0.87756	0.0:1.0:0.0:0.0	.	.	.	.	X	305;306	.	.	G	-	1	0	SEC24D	119946446	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.104000	0.77024	2.422000	0.82143	0.467000	0.42956	GGA		0.388	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Nonsense_Mutation
SEC24D	9871	broad.mit.edu	37	4	119736809	119736809	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119736809C>T	ENST00000280551.6	-	5	708	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	SEC24D_ENST00000379735.5_Missense_Mutation_p.R157Q|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	157	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.R157Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGTGGAGGTCGTGGAGGAGT	0.572																																					p.R157Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	4						.						214.0	193.0	200.0					4																	119736809		2203	4300	6503	119956257	SO:0001583	missense	9871	exon5			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.470G>A	4.37:g.119736809C>T	ENSP00000280551:p.Arg157Gln	Somatic		Capture	Illumina HiSeq	Phase_I	119956257	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529760	0.27387	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.75477	-0.94;-0.93;0.93	5.71	-3.84	0.04256	.	0.660408	0.15282	N	0.270643	T	0.46405	0.1391	N	0.08118	0	0.32027	N	0.600004	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24548	-1.0157	10	0.26408	T	0.33	-3.0613	7.8169	0.29265	0.0:0.1763:0.2339:0.5899	.	157;157	O94855-2;O94855	.;SC24D_HUMAN	Q	157	ENSP00000280551:R157Q;ENSP00000369059:R157Q;ENSP00000426309:R157Q	ENSP00000280551:R157Q	R	-	2	0	SEC24D	119956257	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-1.075000	0.03423	-0.691000	0.05135	-0.119000	0.15052	CGA		0.572	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SYNPO2	171024	broad.mit.edu	37	4	119947922	119947922	+	Missense_Mutation	SNP	T	T	C	rs200290549	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119947922T>C	ENST00000429713.2	+	3	580	c.398T>C	c.(397-399)cTc>cCc	p.L133P	SYNPO2_ENST00000434046.2_Missense_Mutation_p.L133P|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.L133P	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	133						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.L133P(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAATTCTTCCTCGCCCCTGTC	0.522													T|||	4	0.000798722	0.0	0.0	5008	,	,		17593	0.004		0.0	False		,,,				2504	0.0				p.L133P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T398C	4						.	T	PRO/LEU,PRO/LEU,PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	55.0	56.0	56.0		398,398,398	2.2	0.0	4		56	0,8600		0,0,4300	yes	missense,missense,missense	SYNPO2	NM_001128933.1,NM_001128934.1,NM_133477.2	98,98,98	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	133/1094,133/1110,133/1262	119947922	1,13005	2203	4300	6503	120167370	SO:0001583	missense	171024	exon3			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.398T>C	4.37:g.119947922T>C	ENSP00000395143:p.Leu133Pro	Somatic		Capture	Illumina HiSeq	Phase_I	120167370	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	5.042	0.193407	0.09599	2.27E-4	0.0	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.10573	2.87;2.86;2.86	4.78	2.22	0.28083	.	0.949306	0.08673	N	0.910543	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	0.99999	P;B;B;B	0.34462	0.454;0.003;0.072;0.072	B;B;B;B	0.31614	0.133;0.004;0.037;0.037	T	0.41787	-0.9489	10	0.31617	T	0.26	0.0014	6.5787	0.22581	0.0:0.0809:0.1553:0.7638	.	133;133;133;133	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	P	133	ENSP00000306015:L133P;ENSP00000395143:L133P;ENSP00000390965:L133P	ENSP00000306015:L133P	L	+	2	0	SYNPO2	120167370	0.152000	0.22762	0.000000	0.03702	0.002000	0.02628	3.411000	0.52672	0.354000	0.24105	0.455000	0.32223	CTC		0.522	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119948584	119948584	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119948584C>T	ENST00000429713.2	+	3	1242	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R354W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.R354W	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	354						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.R354W(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACCGAGCGCGGCATGCACG	0.517																																					p.R354W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1060T	4						.						29.0	25.0	26.0					4																	119948584		2203	4300	6503	120168032	SO:0001583	missense	171024	exon3			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1060C>T	4.37:g.119948584C>T	ENSP00000395143:p.Arg354Trp	Somatic		Capture	Illumina HiSeq	Phase_I	120168032	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.931839|3.931839	0.73442|0.73442	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	T|T;T;T	0.24350|0.11495	1.86|2.77;2.81;2.8	5.73|5.73	-1.09|-1.09	0.09904|0.09904	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.30759|0.30759	0.0775|0.0775	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.998	T|T	0.22312|0.22312	-1.0220|-1.0220	7|10	0.87932|0.87932	D|D	0|0	-18.071|-18.071	17.914|17.914	0.88943|0.88943	0.8014:0.1986:0.0:0.0|0.8014:0.1986:0.0:0.0	.|.	.|354;354;354;354	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	V|W	305|354	ENSP00000425496:A305V|ENSP00000306015:R354W;ENSP00000395143:R354W;ENSP00000390965:R354W	ENSP00000425496:A305V|ENSP00000306015:R354W	A|R	+|+	2|1	0|2	SYNPO2|SYNPO2	120168032|120168032	0.820000|0.820000	0.29190|0.29190	0.356000|0.356000	0.25785|0.25785	0.997000|0.997000	0.91878|0.91878	1.649000|1.649000	0.37281|0.37281	-0.234000|-0.234000	0.09782|0.09782	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119951693	119951693	+	Missense_Mutation	SNP	C	C	T	rs375410311		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119951693C>T	ENST00000429713.2	+	4	1945	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M	SYNPO2_ENST00000434046.2_Missense_Mutation_p.T588M|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.T588M	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	588						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.T588M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGAATAGAACGGCCAAACCC	0.542																																					p.T588M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1763T	4						.						102.0	95.0	98.0					4																	119951693		2203	4300	6503	120171141	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1763C>T	4.37:g.119951693C>T	ENSP00000395143:p.Thr588Met	Somatic		Capture	Illumina HiSeq	Phase_I	120171141	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	7.009	0.556366	0.13436	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.42900	0.96;0.96;0.96	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.53834	0.1821	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.67145	0.979;0.996;0.959;0.985	B;P;B;B	0.54460	0.307;0.753;0.207;0.297	T	0.54970	-0.8213	9	.	.	.	-18.8661	11.8133	0.52195	0.0:0.9193:0.0:0.0807	.	588;588;588;588	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	M	588	ENSP00000306015:T588M;ENSP00000395143:T588M;ENSP00000390965:T588M	.	T	+	2	0	SYNPO2	120171141	0.998000	0.40836	0.918000	0.36340	0.016000	0.09150	3.914000	0.56401	2.530000	0.85305	0.655000	0.94253	ACG		0.542	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119952737	119952737	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119952737C>A	ENST00000429713.2	+	4	2989	c.2807C>A	c.(2806-2808)gCt>gAt	p.A936D	SYNPO2_ENST00000434046.2_Missense_Mutation_p.A936D|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.A936D	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	936						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.A936D(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACCCACTGGCTGCTCTCAAG	0.537																																					p.A936D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2807A	4						.						83.0	80.0	81.0					4																	119952737		2203	4300	6503	120172185	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2807C>A	4.37:g.119952737C>A	ENSP00000395143:p.Ala936Asp	Somatic		Capture	Illumina HiSeq	Phase_I	120172185	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033668	0.54896	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.11712	2.75;2.78;2.77	5.66	4.81	0.61882	.	0.000000	0.64402	D	0.000007	T	0.34106	0.0886	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.997	D;D;D;D	0.85130	0.997;0.967;0.997;0.958	T	0.09422	-1.0675	9	.	.	.	-9.8683	16.5758	0.84637	0.0:0.8694:0.1306:0.0	.	936;936;936;936	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	D	936	ENSP00000306015:A936D;ENSP00000395143:A936D;ENSP00000390965:A936D	.	A	+	2	0	SYNPO2	120172185	1.000000	0.71417	0.486000	0.27416	0.551000	0.35334	3.871000	0.56077	1.376000	0.46267	0.655000	0.94253	GCT		0.537	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
MYOZ2	51778	broad.mit.edu	37	4	120072141	120072141	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120072141G>T	ENST00000307128.5	+	3	404	c.191G>T	c.(190-192)aGa>aTa	p.R64I		NM_016599.4	NP_057683.1			myozenin 2									p.R64I(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGTCAAAGAAGATCTGACAAA	0.393																																					p.R64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191T	4						.						129.0	120.0	123.0					4																	120072141		2203	4300	6503	120291589	SO:0001583	missense	51778	exon3			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.191G>T	4.37:g.120072141G>T	ENSP00000306997:p.Arg64Ile	Somatic		Capture	Illumina HiSeq	Phase_I	120291589	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186784	0.94923	.	.	ENSG00000172399	ENST00000307128	D	0.82526	-1.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-20.0615	18.7213	0.91694	0.0:0.0:1.0:0.0	.	64	Q9NPC6	MYOZ2_HUMAN	I	64	ENSP00000306997:R64I	ENSP00000306997:R64I	R	+	2	0	MYOZ2	120291589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.765000	0.91724	2.715000	0.92844	0.650000	0.86243	AGA		0.393	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
MYOZ2	51778	broad.mit.edu	37	4	120107206	120107206	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120107206G>T	ENST00000307128.5	+	6	859	c.646G>T	c.(646-648)Gat>Tat	p.D216Y		NM_016599.4	NP_057683.1			myozenin 2									p.D216Y(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTGCTAACAGATCCCAGGTT	0.388																																					p.D216Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646T	4						.						123.0	126.0	125.0					4																	120107206		2203	4300	6503	120326654	SO:0001583	missense	51778	exon6			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.646G>T	4.37:g.120107206G>T	ENSP00000306997:p.Asp216Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120326654	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973421	0.74246	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.83	5.83	0.93111	.	0.200579	0.52532	D	0.000073	T	0.63792	0.2541	L	0.57536	1.79	0.49915	D	0.999835	B	0.17852	0.024	B	0.19148	0.024	T	0.60265	-0.7297	10	0.72032	D	0.01	-26.7214	20.1224	0.97967	0.0:0.0:1.0:0.0	.	216	Q9NPC6	MYOZ2_HUMAN	Y	216	ENSP00000306997:D216Y	ENSP00000306997:D216Y	D	+	1	0	MYOZ2	120326654	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.891000	0.63185	2.749000	0.94314	0.650000	0.86243	GAT		0.388	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
USP53	54532	broad.mit.edu	37	4	120188515	120188515	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120188515G>A	ENST00000274030.6	+	13	2192	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	USP53_ENST00000450251.1_Missense_Mutation_p.R338Q	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.R337Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAATGCATTCGATGCCACTTT	0.388																																					p.R338Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1013A	4						.						118.0	111.0	113.0					4																	120188515		1936	4147	6083	120407963	SO:0001583	missense	54532	exon12			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1013G>A	4.37:g.120188515G>A	ENSP00000274030:p.Arg338Gln	Somatic		Capture	Illumina HiSeq	Phase_I	120407963	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462223	0.63513	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.05580	3.42;3.42	6.02	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.179588	0.49305	D	0.000149	T	0.21103	0.0508	M	0.67397	2.05	0.33175	D	0.548827	D	0.89917	1.0	D	0.81914	0.995	T	0.21965	-1.0230	10	0.49607	T	0.09	-10.3892	11.4225	0.49989	0.1375:0.0:0.8625:0.0	.	338	Q70EK8	UBP53_HUMAN	Q	338	ENSP00000274030:R338Q;ENSP00000409906:R338Q	ENSP00000274030:R338Q	R	+	2	0	USP53	120407963	0.967000	0.33354	0.976000	0.42696	0.954000	0.61252	3.157000	0.50716	1.559000	0.49555	0.655000	0.94253	CGA		0.388	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
FABP2	2169	broad.mit.edu	37	4	120241939	120241939	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120241939T>C	ENST00000274024.3	-	2	413	c.126A>G	c.(124-126)acA>acG	p.T42T		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	42					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.T42T(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TTCCTTCTTGTGTAATTGTCA	0.343																																					p.T42T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A126G	4						.						88.0	97.0	94.0					4																	120241939		2202	4300	6502	120461387	SO:0001819	synonymous_variant	2169	exon2			J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.126A>G	4.37:g.120241939T>C		Somatic		Capture	Illumina HiSeq	Phase_I	120461387	NM_000134	Q2NKJ1	Silent	SNP	ENST00000274024.3	37	CCDS3712.1																																																																																				0.343	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134	
CTBP1	1487	broad.mit.edu	37	4	1222001	1222001	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1222001G>A	ENST00000290921.6	-	3	507	c.326C>T	c.(325-327)tCg>tTg	p.S109L	CTBP1_ENST00000382952.3_Missense_Mutation_p.S98L	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	109					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S109L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ATCCCCGGCCGACTTGATGTC	0.567																																					p.S109L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326T	4						.						160.0	136.0	145.0					4																	1222001		2203	4300	6503	1212001	SO:0001583	missense	1487	exon3			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.326C>T	4.37:g.1222001G>A	ENSP00000290921:p.Ser109Leu	Somatic		Capture	Illumina HiSeq	Phase_I	1212001	NM_001328	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545810	0.86022	.	.	ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180;ENST00000514210;ENST00000515399;ENST00000513420	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	4.85	4.01	0.46588	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	N	0.19112	0.55	0.80722	D	1	P;P	0.42556	0.783;0.783	B;B	0.40199	0.322;0.322	T	0.75847	-0.3173	10	0.87932	D	0	-11.5794	13.0308	0.58840	0.0786:0.0:0.9214:0.0	.	109;98	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	L	98;109;103;98;98;98	ENSP00000372411:S98L;ENSP00000290921:S109L;ENSP00000424684:S103L;ENSP00000426470:S98L;ENSP00000425053:S98L;ENSP00000420983:S98L	ENSP00000290921:S109L	S	-	2	0	CTBP1	1212001	1.000000	0.71417	0.715000	0.30552	0.956000	0.61745	9.386000	0.97228	1.028000	0.39785	0.655000	0.94253	TCG		0.567	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328	
PDE5A	8654	broad.mit.edu	37	4	120473732	120473732	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120473732T>G	ENST00000354960.3	-	9	1688	c.1369A>C	c.(1369-1371)Aaa>Caa	p.K457Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.K405Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.K415Q|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	457	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.K457Q(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TTTCCATTTTTTATAGGTGTA	0.279																																					p.K405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1213C	4						.						57.0	60.0	59.0					4																	120473732		2183	4269	6452	120693180	SO:0001583	missense	8654	exon9			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1369A>C	4.37:g.120473732T>G	ENSP00000347046:p.Lys457Gln	Somatic		Capture	Illumina HiSeq	Phase_I	120693180	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239455	0.58995	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.69306	-0.39;-0.39;-0.39	5.8	4.59	0.56863	GAF (2);	0.470871	0.24999	N	0.033939	T	0.73265	0.3565	M	0.79475	2.455	0.47905	D	0.999542	P;B	0.36660	0.564;0.253	P;B	0.46389	0.515;0.149	T	0.69727	-0.5067	10	0.30078	T	0.28	.	11.905	0.52705	0.1308:0.0:0.0:0.8692	.	457;415	O76074;O76074-2	PDE5A_HUMAN;.	Q	457;405;415	ENSP00000347046:K457Q;ENSP00000377957:K405Q;ENSP00000264805:K415Q	ENSP00000264805:K415Q	K	-	1	0	PDE5A	120693180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.983000	0.63832	0.988000	0.38734	0.528000	0.53228	AAA		0.279	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
NDNF	79625	broad.mit.edu	37	4	121957888	121957888	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:121957888G>T	ENST00000379692.4	-	4	1764	c.1238C>A	c.(1237-1239)cCt>cAt	p.P413H	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	413					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.P413H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTAGCTTTAGGTTTTCCTCT	0.423																																					p.P413H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238A	4						.						120.0	118.0	119.0					4																	121957888		2203	4300	6503	122177338	SO:0001583	missense	79625	exon4			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1238C>A	4.37:g.121957888G>T	ENSP00000369014:p.Pro413His	Somatic		Capture	Illumina HiSeq	Phase_I	122177338	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034450	0.54896	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	4.8	0.61643	.	0.095244	0.85682	D	0.000000	T	0.66167	0.2762	L	0.56769	1.78	0.80722	D	1	P	0.50710	0.938	P	0.53988	0.739	T	0.68379	-0.5424	9	0.52906	T	0.07	-11.9583	14.6029	0.68453	0.07:0.0:0.93:0.0	.	413	Q8TB73	NDNF_HUMAN	H	413	.	ENSP00000369014:P413H	P	-	2	0	NDNF	122177338	1.000000	0.71417	0.858000	0.33744	0.651000	0.38670	8.023000	0.88764	1.386000	0.46466	-0.140000	0.14226	CCT		0.423	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
NDNF	79625	broad.mit.edu	37	4	121958713	121958713	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:121958713G>A	ENST00000379692.4	-	4	939	c.413C>T	c.(412-414)tCg>tTg	p.S138L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	138	Poly-Ser.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.S138L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGAACTAGACGATATAAAATA	0.413																																					p.S138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	4						.						112.0	109.0	110.0					4																	121958713		1916	4136	6052	122178163	SO:0001583	missense	79625	exon4			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.413C>T	4.37:g.121958713G>A	ENSP00000369014:p.Ser138Leu	Somatic		Capture	Illumina HiSeq	Phase_I	122178163	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510967	0.64522	.	.	ENSG00000173376	ENST00000379692;ENST00000515757	.	.	.	6.06	6.06	0.98353	.	0.100312	0.64402	D	0.000001	T	0.60379	0.2264	L	0.51422	1.61	0.80722	D	1	P	0.49090	0.919	P	0.44394	0.448	T	0.61845	-0.6979	9	0.56958	D	0.05	-31.0434	20.6208	0.99490	0.0:0.0:1.0:0.0	.	138	Q8TB73	NDNF_HUMAN	L	138	.	ENSP00000369014:S138L	S	-	2	0	NDNF	122178163	1.000000	0.71417	0.271000	0.24616	0.994000	0.84299	9.855000	0.99526	2.882000	0.98803	0.655000	0.94253	TCG		0.413	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
QRFPR	84109	broad.mit.edu	37	4	122261742	122261742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122261742G>A	ENST00000394427.2	-	2	775	c.364C>T	c.(364-366)Cca>Tca	p.P122S	QRFPR_ENST00000334383.5_Missense_Mutation_p.P122S	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	122					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)|neuropeptide Y receptor activity (GO:0004983)	p.P122S(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGACAAATGGCACCATCTTG	0.398																																					p.P122S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	4						.						121.0	100.0	108.0					4																	122261742		2203	4300	6503	122481192	SO:0001583	missense	84109	exon2			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.364C>T	4.37:g.122261742G>A	ENSP00000377948:p.Pro122Ser	Somatic		Capture	Illumina HiSeq	Phase_I	122481192	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018441	0.54576	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.35789	1.29;1.29	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.047345	0.85682	N	0.000000	T	0.35393	0.0930	L	0.43923	1.385	0.80722	D	1	P;B;B	0.42620	0.785;0.022;0.04	B;B;B	0.39465	0.3;0.099;0.086	T	0.13072	-1.0523	10	0.42905	T	0.14	.	18.9987	0.92824	0.0:0.0:1.0:0.0	.	122;122;122	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	S	122	ENSP00000377948:P122S;ENSP00000335610:P122S	ENSP00000335610:P122S	P	-	1	0	QRFPR	122481192	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.249000	0.95470	2.464000	0.83262	0.579000	0.79373	CCA		0.398	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
BBS7	55212	broad.mit.edu	37	4	122768588	122768588	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122768588C>A	ENST00000264499.4	-	10	1191	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	BBS7_ENST00000506636.1_Missense_Mutation_p.Q336H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	336					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.Q336H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTGCATCTCCTGATTAATTT	0.353									Bardet-Biedl syndrome																												p.Q336H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1008T	4						.						157.0	149.0	152.0					4																	122768588		2203	4300	6503	122988038	SO:0001583	missense	55212	exon10	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1008G>T	4.37:g.122768588C>A	ENSP00000264499:p.Gln336His	Somatic		Capture	Illumina HiSeq	Phase_I	122988038	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783475	0.31593	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.95554	-3.74;-3.74	5.77	4.04	0.47022	WD40 repeat-like-containing domain (1);	0.057529	0.64402	D	0.000001	D	0.92156	0.7513	L	0.56769	1.78	0.52501	D	0.99995	B	0.10296	0.003	B	0.13407	0.009	D	0.88101	0.2819	10	0.46703	T	0.11	-3.8274	5.3814	0.16194	0.1544:0.6291:0.0:0.2165	.	336	Q8IWZ6	BBS7_HUMAN	H	336	ENSP00000264499:Q336H;ENSP00000423626:Q336H	ENSP00000264499:Q336H	Q	-	3	2	BBS7	122988038	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.324000	0.19610	1.454000	0.47793	-0.229000	0.12294	CAG		0.353	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
BBS7	55212	broad.mit.edu	37	4	122780317	122780317	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122780317C>A	ENST00000264499.4	-	5	541	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	BBS7_ENST00000506636.1_Missense_Mutation_p.D120Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	120					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.D120Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGAAAGAGGTCTGAGCCAGAT	0.328									Bardet-Biedl syndrome																												p.D120Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358T	4						.						96.0	100.0	99.0					4																	122780317		2203	4300	6503	122999767	SO:0001583	missense	55212	exon5	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.358G>T	4.37:g.122780317C>A	ENSP00000264499:p.Asp120Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	122999767	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.817154	0.70912	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.71698	-0.59;-0.59	5.17	4.33	0.51752	WD40 repeat-like-containing domain (1);	0.049553	0.85682	D	0.000000	D	0.82549	0.5061	M	0.84846	2.72	0.80722	D	1	D	0.57899	0.981	P	0.59288	0.855	D	0.84442	0.0583	10	0.49607	T	0.09	-11.2598	13.9131	0.63881	0.0:0.9266:0.0:0.0734	.	120	Q8IWZ6	BBS7_HUMAN	Y	120	ENSP00000264499:D120Y;ENSP00000423626:D120Y	ENSP00000264499:D120Y	D	-	1	0	BBS7	122999767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.789000	0.69029	1.197000	0.43143	-0.119000	0.15052	GAC		0.328	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
TRPC3	7222	broad.mit.edu	37	4	122820819	122820819	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122820819A>G	ENST00000379645.3	-	10	2568	c.2495T>C	c.(2494-2496)gTt>gCt	p.V832A	TRPC3_ENST00000264811.5_Missense_Mutation_p.V759A|TRPC3_ENST00000513531.1_Missense_Mutation_p.V704A	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	747					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V759A(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGATTCAAAAACTCTTGAGTT	0.303																																					p.V759A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2276C	4						.						172.0	165.0	168.0					4																	122820819		2203	4300	6503	123040269	SO:0001583	missense	7222	exon9			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2495T>C	4.37:g.122820819A>G	ENSP00000368966:p.Val832Ala	Somatic		Capture	Illumina HiSeq	Phase_I	123040269	NM_003305	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	8.276	0.814410	0.16607	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.79940	-1.32;-1.32;-1.32	5.62	5.62	0.85841	.	0.546737	0.18440	N	0.141158	T	0.55257	0.1909	N	0.01242	-0.935	0.35956	D	0.834265	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.58989	-0.7538	10	0.08381	T	0.77	-34.5083	15.8182	0.78621	1.0:0.0:0.0:0.0	.	747;704;832	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	A	759;832;704	ENSP00000264811:V759A;ENSP00000368966:V832A;ENSP00000426899:V704A	ENSP00000264811:V759A	V	-	2	0	TRPC3	123040269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.657000	0.67996	2.142000	0.66516	0.482000	0.46254	GTT		0.303	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
TRPC3	7222	broad.mit.edu	37	4	122824104	122824104	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122824104A>C	ENST00000379645.3	-	9	2439	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	TRPC3_ENST00000264811.5_Missense_Mutation_p.F716C|TRPC3_ENST00000513531.1_Missense_Mutation_p.F661C	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	704					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.F716C(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAATAAACAAATGATTTTGG	0.373																																					p.F716C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2147G	4						.						119.0	115.0	116.0					4																	122824104		2203	4299	6502	123043554	SO:0001583	missense	7222	exon8			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2366T>G	4.37:g.122824104A>C	ENSP00000368966:p.Phe789Cys	Somatic		Capture	Illumina HiSeq	Phase_I	123043554	NM_003305	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494005	0.84962	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.82711	-1.64;-1.64;-1.64	5.77	5.77	0.91146	.	0.146520	0.49305	D	0.000146	D	0.87414	0.6171	M	0.72894	2.215	0.58432	D	0.999999	P;P;P	0.50943	0.489;0.63;0.94	B;B;P	0.51866	0.325;0.287;0.682	D	0.88823	0.3300	10	0.72032	D	0.01	-0.0632	16.0985	0.81148	1.0:0.0:0.0:0.0	.	704;661;789	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	C	716;789;661	ENSP00000264811:F716C;ENSP00000368966:F789C;ENSP00000426899:F661C	ENSP00000264811:F716C	F	-	2	0	TRPC3	123043554	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.161000	0.64935	2.197000	0.70478	0.455000	0.32223	TTT		0.373	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
KIAA1109	84162	broad.mit.edu	37	4	123192355	123192355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123192355C>T	ENST00000264501.4	+	47	8049	c.7676C>T	c.(7675-7677)tCc>tTc	p.S2559F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2559F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2559F			Q2LD37	K1109_HUMAN	KIAA1109	2559					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2559F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTACTATTTCCTGTCAGTCA	0.408																																					p.S2559F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7676T	4						.						211.0	204.0	206.0					4																	123192355		1913	4126	6039	123411805	SO:0001583	missense	84162	exon45			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7676C>T	4.37:g.123192355C>T	ENSP00000264501:p.Ser2559Phe	Somatic		Capture	Illumina HiSeq	Phase_I	123411805	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.364351|4.364351	0.82463|0.82463	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.25749	.|2.36;2.36;1.78	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.080216	.|0.51477	.|D	.|0.000085	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999966|0.999966	.|P;D;P	.|0.58620	.|0.828;0.983;0.93	.|P;P;P	.|0.53809	.|0.653;0.735;0.564	T|T	0.21930|0.21930	-1.0231|-1.0231	5|10	.|0.72032	.|D	.|0.01	.|.	20.0951|20.0951	0.97834|0.97834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2559;2558;2559	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	S|F	1132|2559	.|ENSP00000264501:S2559F;ENSP00000373390:S2559F;ENSP00000389925:S2559F	.|ENSP00000264501:S2559F	P|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123411805|123411805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.755000|7.755000	0.85180|0.85180	2.753000|2.753000	0.94483|0.94483	0.467000|0.467000	0.42956|0.42956	CCT|TCC		0.408	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123268802	123268802	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123268802C>A	ENST00000264501.4	+	76	13370	c.12997C>A	c.(12997-12999)Cct>Act	p.P4333T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4333T			Q2LD37	K1109_HUMAN	KIAA1109	4333					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P4333T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACCCACATGCCTCAGTCACC	0.488																																					p.P4333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12997A	4						.						102.0	105.0	104.0					4																	123268802		2087	4216	6303	123488252	SO:0001583	missense	84162	exon74			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12997C>A	4.37:g.123268802C>A	ENSP00000264501:p.Pro4333Thr	Somatic		Capture	Illumina HiSeq	Phase_I	123488252	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.367901|2.367901	0.42003|0.42003	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.33216	.|2.5;2.5;1.42	6.16|6.16	4.38|4.38	0.52667|0.52667	.|.	.|0.114877	.|0.64402	.|D	.|0.000013	.|T	.|0.16471	.|0.0396	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20164	.|0.042;0.0	.|B;B	.|0.26310	.|0.068;0.001	.|T	.|0.08700	.|-1.0709	.|10	.|0.11794	.|T	.|0.64	.|.	9.5271|9.5271	0.39171|0.39171	0.1153:0.567:0.3177:0.0|0.1153:0.567:0.3177:0.0	.|.	.|4332;4333	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	X|T	708|4333;4333;1002	.|ENSP00000264501:P4333T;ENSP00000373390:P4333T;ENSP00000410874:P1002T	.|ENSP00000264501:P4333T	C|P	+|+	3|1	2|0	KIAA1109|KIAA1109	123488252|123488252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.915000|2.915000	0.48805|0.48805	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TGC|CCT		0.488	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123283194	123283194	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123283194C>A	ENST00000264501.4	+	86	15183	c.14810C>A	c.(14809-14811)tCt>tAt	p.S4937Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4937Y			Q2LD37	K1109_HUMAN	KIAA1109	4937					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4937Y(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGATTAATTTCTTGGACTGGA	0.323																																					p.S4937Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14810A	4						.						70.0	69.0	69.0					4																	123283194		1799	4069	5868	123502644	SO:0001583	missense	84162	exon84			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14810C>A	4.37:g.123283194C>A	ENSP00000264501:p.Ser4937Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123502644	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.035433|4.035433	0.75617|0.75617	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.52526	.|0.66;0.66;0.66	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Fragile site-associated protein, C-terminal (1);	.|0.055003	.|0.85682	.|D	.|0.000000	T|T	0.70202|0.70202	0.3197|0.3197	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.994;0.997	.|D;D	.|0.83275	.|0.967;0.996	T|T	0.74074|0.74074	-0.3782|-0.3782	5|10	.|0.72032	.|D	.|0.01	.|.	18.5514|18.5514	0.91066|0.91066	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4936;4937	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|Y	1313|4937;4937;1606;538	.|ENSP00000264501:S4937Y;ENSP00000373390:S4937Y;ENSP00000410874:S1606Y	.|ENSP00000264501:S4937Y	L|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123502644|123502644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.673000|7.673000	0.83973|0.83973	2.407000|2.407000	0.81776|0.81776	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ADAD1	132612	broad.mit.edu	37	4	123317432	123317432	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123317432G>T	ENST00000296513.2	+	7	809	c.624G>T	c.(622-624)aaG>aaT	p.K208N	ADAD1_ENST00000388725.2_Missense_Mutation_p.K190N|ADAD1_ENST00000388724.2_Missense_Mutation_p.K208N|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	208					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.K208N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATATGCAAAGATTTCACAGA	0.294																																					p.K190N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G570T	4						.						55.0	61.0	59.0					4																	123317432		2201	4289	6490	123536882	SO:0001583	missense	132612	exon6			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.624G>T	4.37:g.123317432G>T	ENSP00000296513:p.Lys208Asn	Somatic		Capture	Illumina HiSeq	Phase_I	123536882	NM_001159295	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433904	0.62955	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.32515	1.45;1.46;1.46	6.05	2.42	0.29668	Adenosine deaminase/editase (1);	0.148013	0.64402	D	0.000011	T	0.24851	0.0603	L	0.41710	1.295	0.39431	D	0.967087	B;P	0.43938	0.214;0.822	B;B	0.41466	0.326;0.358	T	0.03364	-1.1044	10	0.42905	T	0.14	-4.4236	9.9027	0.41357	0.3448:0.0:0.6552:0.0	.	208;208	Q96M93-2;Q96M93	.;ADAD1_HUMAN	N	208;208;208;190	ENSP00000296513:K208N;ENSP00000373376:K208N;ENSP00000373377:K190N	ENSP00000296513:K208N	K	+	3	2	ADAD1	123536882	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.107000	0.41844	0.455000	0.26910	0.655000	0.94253	AAG		0.294	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
ADAD1	132612	broad.mit.edu	37	4	123332433	123332433	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123332433A>C	ENST00000296513.2	+	9	1090	c.905A>C	c.(904-906)aAa>aCa	p.K302T	ADAD1_ENST00000388725.2_Missense_Mutation_p.K284T|ADAD1_ENST00000388724.2_Missense_Mutation_p.K291T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	302	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.K302T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGATGGAAAAATCAATATTT	0.308																																					p.K284T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A851C	4						.						74.0	75.0	74.0					4																	123332433		2203	4300	6503	123551883	SO:0001583	missense	132612	exon8			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.905A>C	4.37:g.123332433A>C	ENSP00000296513:p.Lys302Thr	Somatic		Capture	Illumina HiSeq	Phase_I	123551883	NM_001159295	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476968	0.63849	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93906	-3.31;-3.31;-3.31	5.74	4.55	0.56014	Adenosine deaminase/editase (3);	0.100127	0.64402	D	0.000003	D	0.95326	0.8483	M	0.66378	2.025	0.46678	D	0.999155	P;D	0.89917	0.567;1.0	P;D	0.77557	0.561;0.99	D	0.93902	0.7189	10	0.39692	T	0.17	-17.026	10.4247	0.44371	0.8641:0.0:0.1359:0.0	.	291;302	Q96M93-2;Q96M93	.;ADAD1_HUMAN	T	302;291;284	ENSP00000296513:K302T;ENSP00000373376:K291T;ENSP00000373377:K284T	ENSP00000296513:K302T	K	+	2	0	ADAD1	123551883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.189000	0.58358	0.997000	0.38969	0.482000	0.46254	AAA		0.308	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
IL21	59067	broad.mit.edu	37	4	123534041	123534041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123534041C>A	ENST00000264497.3	-	4	460	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	128					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)	p.E135*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAGGAATTCTTTGGGTGGT	0.299																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	4						.						80.0	87.0	85.0					4																	123534041		2203	4300	6503	123753491	SO:0001587	stop_gained	59067	exon4			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.403G>T	4.37:g.123534041C>A	ENSP00000264497:p.Glu135*	Somatic		Capture	Illumina HiSeq	Phase_I	123753491	NM_021803	A5J0L4	Nonsense_Mutation	SNP	ENST00000264497.3	37	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423765	0.62733	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	3.91	0.45181	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7765	11.5764	0.50864	0.0:0.8194:0.1806:0.0	.	.	.	.	X	135	.	ENSP00000264497:E135X	E	-	1	0	IL21	123753491	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.002000	0.29796	2.214000	0.71695	0.467000	0.42956	GAA		0.299	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803	
BBS12	166379	broad.mit.edu	37	4	123664030	123664030	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:123664030C>A	ENST00000314218.3	+	2	1176	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	BBS12_ENST00000542236.1_Missense_Mutation_p.S328Y	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	328					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.S328Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAAACTTCTTCTTGTGTTTGT	0.393									Bardet-Biedl syndrome																												p.S328Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C983A	4						.						86.0	74.0	78.0					4																	123664030		2203	4300	6503	123883480	SO:0001583	missense	166379	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.983C>A	4.37:g.123664030C>A	ENSP00000319062:p.Ser328Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123883480	NM_152618	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419530	0.83559	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.82803	-1.65;-1.65	5.78	5.78	0.91487	.	0.191714	0.47455	D	0.000237	D	0.90696	0.7081	M	0.67953	2.075	0.54753	D	0.999985	D	0.89917	1.0	D	0.72338	0.977	D	0.90863	0.4740	10	0.87932	D	0	-4.7687	20.0204	0.97499	0.0:1.0:0.0:0.0	.	328	Q6ZW61	BBS12_HUMAN	Y	328	ENSP00000319062:S328Y;ENSP00000438273:S328Y	ENSP00000319062:S328Y	S	+	2	0	BBS12	123883480	0.997000	0.39634	0.922000	0.36590	0.917000	0.54804	4.211000	0.58507	2.729000	0.93468	0.650000	0.86243	TCT		0.393	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618	
ANKRD50	57182	broad.mit.edu	37	4	125590199	125590199	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:125590199C>T	ENST00000504087.1	-	4	5270	c.4233G>A	c.(4231-4233)aaG>aaA	p.K1411K	ANKRD50_ENST00000515641.1_Silent_p.K1232K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1411								p.K1411K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATCTGAAGCTTCAGAGCTT	0.388																																					p.K1232K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3696A	4						.						101.0	97.0	98.0					4																	125590199		2203	4300	6503	125809649	SO:0001819	synonymous_variant	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4233G>A	4.37:g.125590199C>T		Somatic		Capture	Illumina HiSeq	Phase_I	125809649	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																				0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
ANKRD50	57182	broad.mit.edu	37	4	125592250	125592250	+	Missense_Mutation	SNP	C	C	T	rs377077898		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:125592250C>T	ENST00000504087.1	-	4	3219	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A549T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	728								p.A728T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACAACTGATGCGTGCCCTTTA	0.468																																					p.A549T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1645A	4						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	134.0	116.0	122.0		1645,2182	5.4	0.6	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD50	NM_001167882.1,NM_020337.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	549/1251,728/1430	125592250	1,13005	2203	4300	6503	125811700	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2182G>A	4.37:g.125592250C>T	ENSP00000425658:p.Ala728Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125811700	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709576	0.30322	0.0	1.16E-4	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64991	-0.13;-0.13	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.109274	0.64402	D	0.000010	T	0.36026	0.0952	N	0.02674	-0.535	0.58432	D	0.999996	B	0.32717	0.381	B	0.26770	0.073	T	0.36744	-0.9735	10	0.13853	T	0.58	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	728	Q9ULJ7	ANR50_HUMAN	T	728;549	ENSP00000425658:A728T;ENSP00000425355:A549T	ENSP00000425658:A728T	A	-	1	0	ANKRD50	125811700	1.000000	0.71417	0.632000	0.29296	0.019000	0.09904	7.164000	0.77533	2.820000	0.97059	0.650000	0.86243	GCA		0.468	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126239901	126239901	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126239901G>T	ENST00000394329.3	+	1	2348	c.2335G>T	c.(2335-2337)Gta>Tta	p.V779L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	779	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V779L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGCAATAGTAACCATCAC	0.433																																					p.V779L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2335T	4						.						132.0	121.0	124.0					4																	126239901		1955	4152	6107	126459351	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2335G>T	4.37:g.126239901G>T	ENSP00000377862:p.Val779Leu	Somatic		Capture	Illumina HiSeq	Phase_I	126459351	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651676	0.47362	.	.	ENSG00000196159	ENST00000394329	T	0.47528	0.84	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.31233	U	0.008008	T	0.63896	0.2550	L	0.48877	1.53	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.59026	-0.7531	10	0.34782	T	0.22	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	779	Q6V0I7	FAT4_HUMAN	L	779	ENSP00000377862:V779L	ENSP00000377862:V779L	V	+	1	0	FAT4	126459351	1.000000	0.71417	0.367000	0.25926	0.278000	0.26855	9.666000	0.98612	2.572000	0.86782	0.655000	0.94253	GTA		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126240278	126240278	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126240278G>T	ENST00000394329.3	+	1	2725	c.2712G>T	c.(2710-2712)gaG>gaT	p.E904D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	904	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E904D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTGGTGGAGAATTGGCAGG	0.458																																					p.E904D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2712T	4						.						41.0	43.0	42.0					4																	126240278		1952	4154	6106	126459728	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2712G>T	4.37:g.126240278G>T	ENSP00000377862:p.Glu904Asp	Somatic		Capture	Illumina HiSeq	Phase_I	126459728	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816851	0.50633	.	.	ENSG00000196159	ENST00000394329	T	0.75367	-0.93	5.37	3.63	0.41609	Cadherin (3);Cadherin-like (1);	0.000000	0.34338	U	0.004059	D	0.85004	0.5598	M	0.81179	2.53	0.80722	D	1	D	0.62365	0.991	D	0.87578	0.998	D	0.86144	0.1583	10	0.66056	D	0.02	.	11.2968	0.49282	0.2038:0.0:0.7962:0.0	.	904	Q6V0I7	FAT4_HUMAN	D	904	ENSP00000377862:E904D	ENSP00000377862:E904D	E	+	3	2	FAT4	126459728	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.689000	0.37700	1.270000	0.44297	0.655000	0.94253	GAG		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126241593	126241593	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126241593G>A	ENST00000394329.3	+	1	4040	c.4027G>A	c.(4027-4029)Gat>Aat	p.D1343N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1343	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1343N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGATTCCGATTCAGGTGA	0.393																																					p.D1343N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4027A	4						.						138.0	130.0	133.0					4																	126241593		1893	4107	6000	126461043	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4027G>A	4.37:g.126241593G>A	ENSP00000377862:p.Asp1343Asn	Somatic		Capture	Illumina HiSeq	Phase_I	126461043	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923133	0.73213	.	.	ENSG00000196159	ENST00000394329	T	0.74002	-0.8	4.83	4.83	0.62350	Cadherin (4);Cadherin-like (1);	0.000000	0.35349	U	0.003261	D	0.90807	0.7113	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93742	0.7051	10	0.87932	D	0	.	18.1012	0.89505	0.0:0.0:1.0:0.0	.	1343	Q6V0I7	FAT4_HUMAN	N	1343	ENSP00000377862:D1343N	ENSP00000377862:D1343N	D	+	1	0	FAT4	126461043	1.000000	0.71417	0.847000	0.33407	0.862000	0.49288	9.454000	0.97621	2.513000	0.84729	0.655000	0.94253	GAT		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126328090	126328090	+	Missense_Mutation	SNP	G	G	A	rs200898075		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126328090G>A	ENST00000394329.3	+	3	5376	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	FAT4_ENST00000335110.5_Missense_Mutation_p.R86H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1788	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1788H(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATAGTTTTCGCATCGACCCA	0.468																																					p.R1788H												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G5363A	4						.						120.0	115.0	117.0					4																	126328090		2203	4300	6503	126547540	SO:0001583	missense	79633	exon3			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5363G>A	4.37:g.126328090G>A	ENSP00000377862:p.Arg1788His	Somatic		Capture	Illumina HiSeq	Phase_I	126547540	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060387	0.36373	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01787	4.64;4.64	5.28	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.234704	0.21216	U	0.078237	T	0.01454	0.0047	N	0.16130	0.375	0.45108	D	0.998121	B;B	0.17852	0.011;0.024	B;B	0.18263	0.006;0.021	T	0.61148	-0.7121	10	0.35671	T	0.21	.	9.9562	0.41668	0.1593:0.0:0.8407:0.0	.	86;1788	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	1788;86	ENSP00000377862:R1788H;ENSP00000335169:R86H	ENSP00000335169:R86H	R	+	2	0	FAT4	126547540	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	4.667000	0.61561	2.622000	0.88805	0.585000	0.79938	CGC		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126328170	126328170	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126328170C>T	ENST00000394329.3	+	3	5456	c.5443C>T	c.(5443-5445)Cgt>Tgt	p.R1815C	FAT4_ENST00000335110.5_Missense_Mutation_p.R113C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1815	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1815C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGCTAGTTCGTGCTGATGA	0.468																																					p.R1815C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5443T	4						.						158.0	146.0	150.0					4																	126328170		2203	4300	6503	126547620	SO:0001583	missense	79633	exon3			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5443C>T	4.37:g.126328170C>T	ENSP00000377862:p.Arg1815Cys	Somatic		Capture	Illumina HiSeq	Phase_I	126547620	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019426	0.93462	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.35124	U	0.003435	T	0.13457	0.0326	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00217	-1.1909	10	0.59425	D	0.04	.	19.484	0.95022	0.0:1.0:0.0:0.0	.	113;1815	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	C	1815;113	ENSP00000377862:R1815C;ENSP00000335169:R113C	ENSP00000335169:R113C	R	+	1	0	FAT4	126547620	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.428000	0.80296	2.669000	0.90835	0.650000	0.86243	CGT		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126336405	126336405	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126336405A>C	ENST00000394329.3	+	5	6300	c.6287A>C	c.(6286-6288)aAg>aCg	p.K2096T	FAT4_ENST00000335110.5_Missense_Mutation_p.K394T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2096	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2096T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGGGAAACAAGTTCAGTATT	0.428																																					p.K2096T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6287C	4						.						125.0	128.0	127.0					4																	126336405		2203	4300	6503	126555855	SO:0001583	missense	79633	exon5			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6287A>C	4.37:g.126336405A>C	ENSP00000377862:p.Lys2096Thr	Somatic		Capture	Illumina HiSeq	Phase_I	126555855	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976170	0.34848	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52057	0.68;0.68	5.0	3.83	0.44106	Cadherin (4);Cadherin-like (1);	0.000000	0.35615	U	0.003092	T	0.46946	0.1419	N	0.17564	0.495	0.50039	D	0.999842	D;D	0.76494	0.995;0.999	D;D	0.91635	0.987;0.999	T	0.30208	-0.9986	10	0.19147	T	0.46	.	10.0735	0.42347	0.9212:0.0:0.0788:0.0	.	394;2096	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2096;394	ENSP00000377862:K2096T;ENSP00000335169:K394T	ENSP00000335169:K394T	K	+	2	0	FAT4	126555855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.040000	0.49799	1.873000	0.54277	0.455000	0.32223	AAG		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126336576	126336576	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126336576T>A	ENST00000394329.3	+	5	6471	c.6458T>A	c.(6457-6459)aTc>aAc	p.I2153N	FAT4_ENST00000335110.5_Missense_Mutation_p.I451N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2153	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2153N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACAACCCCATCTTTGCACAA	0.388																																					p.I2153N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6458A	4						.						93.0	88.0	89.0					4																	126336576		2203	4300	6503	126556026	SO:0001583	missense	79633	exon5			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6458T>A	4.37:g.126336576T>A	ENSP00000377862:p.Ile2153Asn	Somatic		Capture	Illumina HiSeq	Phase_I	126556026	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403030	0.25291	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02015	4.5;4.5	5.42	-1.98	0.07480	Cadherin (2);Cadherin-like (1);	1.145110	0.07057	U	0.833053	T	0.02156	0.0067	L	0.44542	1.39	0.09310	N	1	B;B	0.22480	0.07;0.017	B;B	0.24848	0.056;0.024	T	0.49041	-0.8980	10	0.32370	T	0.25	.	0.6283	0.00789	0.2347:0.2002:0.1217:0.4434	.	451;2153	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	2153;451	ENSP00000377862:I2153N;ENSP00000335169:I451N	ENSP00000335169:I451N	I	+	2	0	FAT4	126556026	0.962000	0.33011	0.000000	0.03702	0.811000	0.45836	2.834000	0.48167	-0.567000	0.06046	0.455000	0.32223	ATC		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126367672	126367672	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126367672C>T	ENST00000394329.3	+	8	7431	c.7418C>T	c.(7417-7419)aCt>aTt	p.T2473I	FAT4_ENST00000335110.5_Missense_Mutation_p.T771I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2473	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2473I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATATGTCACTCACATCCCA	0.423																																					p.T2473I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7418T	4						.						168.0	158.0	162.0					4																	126367672		2203	4300	6503	126587122	SO:0001583	missense	79633	exon8			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7418C>T	4.37:g.126367672C>T	ENSP00000377862:p.Thr2473Ile	Somatic		Capture	Illumina HiSeq	Phase_I	126587122	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506216	0.64410	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.46063	0.88;0.88	5.49	5.49	0.81192	Cadherin (3);Cadherin-like (1);	0.000000	0.35262	U	0.003331	T	0.53738	0.1815	L	0.37750	1.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.37888	-0.9686	10	0.10377	T	0.69	.	19.3792	0.94525	0.0:1.0:0.0:0.0	.	771;2473	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2473;771	ENSP00000377862:T2473I;ENSP00000335169:T771I	ENSP00000335169:T771I	T	+	2	0	FAT4	126587122	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	7.602000	0.82796	2.571000	0.86741	0.655000	0.94253	ACT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126370949	126370949	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126370949G>T	ENST00000394329.3	+	9	8791	c.8778G>T	c.(8776-8778)gaG>gaT	p.E2926D	FAT4_ENST00000335110.5_Missense_Mutation_p.E1224D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2926	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2926D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACTGGAGAGATTTTCAATA	0.348																																					p.E2926D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8778T	4						.						58.0	62.0	61.0					4																	126370949		2203	4300	6503	126590399	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8778G>T	4.37:g.126370949G>T	ENSP00000377862:p.Glu2926Asp	Somatic		Capture	Illumina HiSeq	Phase_I	126590399	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898352	0.52227	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.34	2.48	0.30137	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.04003	0.0112	L	0.46741	1.465	0.40411	D	0.979746	D;D;D	0.67145	0.996;0.98;0.976	D;P;P	0.76071	0.987;0.873;0.799	T	0.59584	-0.7427	10	0.13470	T	0.59	.	3.7979	0.08747	0.1768:0.1243:0.5721:0.1268	.	1224;2926;2926	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	2926;1224	ENSP00000377862:E2926D;ENSP00000335169:E1224D	ENSP00000335169:E1224D	E	+	3	2	FAT4	126590399	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.199000	0.42715	0.671000	0.31185	0.655000	0.94253	GAG		0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126371083	126371083	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126371083T>C	ENST00000394329.3	+	9	8925	c.8912T>C	c.(8911-8913)aTc>aCc	p.I2971T	FAT4_ENST00000335110.5_Missense_Mutation_p.I1269T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2971	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2971T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTTACCATCAATATAGTG	0.353																																					p.I2971T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T8912C	4						.						66.0	67.0	67.0					4																	126371083		2203	4299	6502	126590533	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8912T>C	4.37:g.126371083T>C	ENSP00000377862:p.Ile2971Thr	Somatic		Capture	Illumina HiSeq	Phase_I	126590533	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625891	0.66901	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.69685	-0.42;-0.29	5.34	5.34	0.76211	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34603	U	0.003827	T	0.81460	0.4827	M	0.87900	2.915	0.58432	D	0.999993	D;P;P	0.60575	0.988;0.931;0.935	P;P;P	0.57911	0.829;0.745;0.63	D	0.85321	0.1084	10	0.72032	D	0.01	.	15.6238	0.76833	0.0:0.0:0.0:1.0	.	1269;2971;2971	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	2971;1269	ENSP00000377862:I2971T;ENSP00000335169:I1269T	ENSP00000335169:I1269T	I	+	2	0	FAT4	126590533	1.000000	0.71417	0.720000	0.30636	0.883000	0.51084	7.837000	0.86796	2.152000	0.67230	0.533000	0.62120	ATC		0.353	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126372820	126372820	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:126372820G>A	ENST00000394329.3	+	9	10662	c.10649G>A	c.(10648-10650)aGc>aAc	p.S3550N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1848N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3550	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3550N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTGCTGAGCACAGGTCCT	0.488																																					p.S3550N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10649A	4						.						118.0	119.0	119.0					4																	126372820		2203	4300	6503	126592270	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10649G>A	4.37:g.126372820G>A	ENSP00000377862:p.Ser3550Asn	Somatic		Capture	Illumina HiSeq	Phase_I	126592270	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945182	0.73672	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.39997	1.05;1.05	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.41001	U	0.000973	T	0.48390	0.1497	L	0.33093	0.98	0.80722	D	1	B;D;D	0.58970	0.021;0.984;0.976	B;P;P	0.55749	0.021;0.783;0.652	T	0.13683	-1.0500	10	0.17369	T	0.5	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1848;3550;3550	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3550;1848	ENSP00000377862:S3550N;ENSP00000335169:S1848N	ENSP00000335169:S1848N	S	+	2	0	FAT4	126592270	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.596000	0.61055	2.793000	0.96121	0.655000	0.94253	AGC		0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
INTU	27152	broad.mit.edu	37	4	128627647	128627647	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:128627647T>G	ENST00000335251.6	+	12	1897	c.1794T>G	c.(1792-1794)caT>caG	p.H598Q	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	598					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.H598Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TATAGAAACATTATATGCTAT	0.338																																					p.H598Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1794G	4						.						67.0	68.0	68.0					4																	128627647		2203	4300	6503	128847097	SO:0001583	missense	27152	exon12			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1794T>G	4.37:g.128627647T>G	ENSP00000334003:p.His598Gln	Somatic		Capture	Illumina HiSeq	Phase_I	128847097	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179418	0.38511	.	.	ENSG00000164066	ENST00000335251	T	0.33438	1.41	4.75	3.57	0.40892	.	0.051766	0.85682	D	0.000000	T	0.43612	0.1255	M	0.77103	2.36	0.80722	D	1	P	0.52061	0.95	P	0.54238	0.746	T	0.40384	-0.9566	10	0.87932	D	0	-10.0543	5.4266	0.16429	0.0:0.3344:0.0:0.6656	.	598	Q9ULD6	PDZD6_HUMAN	Q	598	ENSP00000334003:H598Q	ENSP00000334003:H598Q	H	+	3	2	INTU	128847097	1.000000	0.71417	0.884000	0.34674	0.122000	0.20287	2.485000	0.45250	0.955000	0.37878	0.528000	0.53228	CAT		0.338	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
HSPA4L	22824	broad.mit.edu	37	4	128748546	128748546	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:128748546T>C	ENST00000296464.4	+	17	2544	c.2133T>C	c.(2131-2133)ctT>ctC	p.L711L	HSPA4L_ENST00000505726.1_Silent_p.L685L|HSPA4L_ENST00000508776.1_Silent_p.L711L|HSPA4L_ENST00000439123.2_Silent_p.L742L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	711					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L711L(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGATCCAACTTGTCATGAAAG	0.378																																					p.L711L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2133C	4						.						104.0	103.0	103.0					4																	128748546		2203	4300	6503	128967996	SO:0001819	synonymous_variant	22824	exon17			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2133T>C	4.37:g.128748546T>C		Somatic		Capture	Illumina HiSeq	Phase_I	128967996	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	CCDS3734.1																																																																																				0.378	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
PLK4	10733	broad.mit.edu	37	4	128803004	128803004	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:128803004C>A	ENST00000270861.5	+	2	323	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000507249.1_Missense_Mutation_p.L17M|PLK4_ENST00000513090.1_Missense_Mutation_p.L17M|PLK4_ENST00000514379.1_5'UTR|PLK4_ENST00000515069.1_Missense_Mutation_p.L17M	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L17M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTTGGAAATCTGCTTGGTAA	0.353																																					p.L17M	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	4						.						87.0	87.0	87.0					4																	128803004		2203	4300	6503	129022454	SO:0001583	missense	10733	exon2			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.49C>A	4.37:g.128803004C>A	ENSP00000270861:p.Leu17Met	Somatic		Capture	Illumina HiSeq	Phase_I	129022454	NM_001190799	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511839	0.64522	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.97	3.12	0.35913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068801	0.64402	D	0.000014	T	0.47414	0.1444	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.986	T	0.49173	-0.8967	10	0.62326	D	0.03	-2.6707	12.1087	0.53827	0.0:0.9151:0.0:0.0849	.	17;17	O00444-2;O00444	.;PLK4_HUMAN	M	17	ENSP00000270861:L17M;ENSP00000421774:L17M;ENSP00000427554:L17M;ENSP00000423412:L17M	ENSP00000270861:L17M	L	+	1	2	PLK4	129022454	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.992000	0.56980	1.004000	0.39156	0.561000	0.74099	CTG		0.353	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
LARP1B	55132	broad.mit.edu	37	4	129099718	129099718	+	Missense_Mutation	SNP	G	G	A	rs369019229		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:129099718G>A	ENST00000326639.6	+	14	2028	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	LARP1B_ENST00000441387.1_Missense_Mutation_p.R606Q|LARP1B_ENST00000354456.3_Missense_Mutation_p.R25Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R547Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	606						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R606Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAAACACCTCGAACACCTAGG	0.383																																					p.R606Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1817A	4						.	G	GLN/ARG	0,4406		0,0,2203	175.0	175.0	175.0		1817	3.7	0.5	4		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARP1B	NM_018078.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	606/915	129099718	1,13005	2203	4300	6503	129319168	SO:0001583	missense	55132	exon14				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1817G>A	4.37:g.129099718G>A	ENSP00000321997:p.Arg606Gln	Somatic		Capture	Illumina HiSeq	Phase_I	129319168	NM_018078	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830959	0.50845	0.0	1.16E-4	ENSG00000138709	ENST00000326639;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T;T	0.46451	1.71;1.01;1.74;1.7;0.87	4.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.80847	2.515	0.36301	D	0.85704	P;P;P	0.49783	0.604;0.928;0.871	B;B;B	0.43658	0.261;0.426;0.135	T	0.58781	-0.7576	10	0.30854	T	0.27	.	11.6833	0.51470	0.0868:0.0:0.9132:0.0	.	25;547;606	Q659C4-5;D6RJB0;Q659C4	.;.;LAR1B_HUMAN	Q	606;547;547;606;25	ENSP00000321997:R606Q;ENSP00000427281:R547Q;ENSP00000264584:R547Q;ENSP00000396521:R606Q;ENSP00000346444:R25Q	ENSP00000264584:R547Q	R	+	2	0	LARP1B	129319168	1.000000	0.71417	0.455000	0.27031	0.627000	0.37826	3.509000	0.53386	1.104000	0.41587	0.467000	0.42956	CGA		0.383	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
UVSSA	57654	broad.mit.edu	37	4	1341968	1341968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1341968A>G	ENST00000389851.4	+	2	536	c.89A>G	c.(88-90)aAa>aGa	p.K30R	UVSSA_ENST00000507531.1_Missense_Mutation_p.K30R|UVSSA_ENST00000511216.1_Missense_Mutation_p.K30R	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	30	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.K30R(1)									GAACTGAAGAAAATTTGCAAG	0.478																																					p.K30R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A89G	4						.						98.0	107.0	104.0					4																	1341968		2203	4300	6503	1331968	SO:0001583	missense	57654	exon2			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.89A>G	4.37:g.1341968A>G	ENSP00000374501:p.Lys30Arg	Somatic		Capture	Illumina HiSeq	Phase_I	1331968	NM_020894	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503286	0.85176	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.22134	1.97;1.97;1.97	4.92	3.73	0.42828	.	0.045004	0.85682	D	0.000000	T	0.41259	0.1151	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	D	0.63703	0.917	T	0.27054	-1.0085	10	0.62326	D	0.03	.	10.2876	0.43577	0.9198:0.0:0.0802:0.0	.	30	Q2YD98	K1530_HUMAN	R	30	ENSP00000425130:K30R;ENSP00000374501:K30R;ENSP00000421741:K30R	ENSP00000374501:K30R	K	+	2	0	KIAA1530	1331968	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	6.028000	0.70889	0.817000	0.34445	0.459000	0.35465	AAA		0.478	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
SCLT1	132320	broad.mit.edu	37	4	129873958	129873958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:129873958G>A	ENST00000281142.5	-	14	1687	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	395					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.S395F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTTAATCGAGAAATTTGTAT	0.259																																					p.S395F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1184T	4						.						123.0	127.0	125.0					4																	129873958		2199	4297	6496	130093408	SO:0001583	missense	132320	exon14			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1184C>T	4.37:g.129873958G>A	ENSP00000281142:p.Ser395Phe	Somatic		Capture	Illumina HiSeq	Phase_I	130093408	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	9.488	1.099938	0.20552	.	.	ENSG00000151466	ENST00000281142	T	0.10382	2.88	4.49	3.63	0.41609	.	0.701948	0.14194	N	0.335177	T	0.12689	0.0308	L	0.56769	1.78	0.80722	D	1	B	0.17667	0.023	B	0.14578	0.011	T	0.03750	-1.1007	9	.	.	.	-0.3991	11.8426	0.52364	0.0893:0.0:0.9107:0.0	.	395	Q96NL6	SCLT1_HUMAN	F	395	ENSP00000281142:S395F	.	S	-	2	0	SCLT1	130093408	1.000000	0.71417	0.700000	0.30305	0.642000	0.38348	1.760000	0.38430	1.074000	0.40909	0.655000	0.94253	TCT		0.259	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
PCDH10	57575	broad.mit.edu	37	4	134072888	134072888	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:134072888C>T	ENST00000264360.5	+	1	2419	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	531	Cadherin 5. {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)	p.F531F(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGCTCCTTCGACTATGAGC	0.562																																					p.F531F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|NS(1)	c.C1593T	4						.						61.0	65.0	64.0					4																	134072888		2188	4273	6461	134292338	SO:0001819	synonymous_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1593C>T	4.37:g.134072888C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134292338	NM_020815	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.562	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	broad.mit.edu	37	4	134072971	134072971	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:134072971C>A	ENST00000264360.5	+	1	2502	c.1676C>A	c.(1675-1677)aCt>aAt	p.T559N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	559	Cadherin 5. {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)	p.T559N(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTAACGCCACTGTCAACATC	0.627																																					p.T559N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1676A	4						.						42.0	48.0	46.0					4																	134072971		2118	4151	6269	134292421	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1676C>A	4.37:g.134072971C>A	ENSP00000264360:p.Thr559Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134292421	NM_020815	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682985	0.88542	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55234	0.53	4.3	4.3	0.51218	Cadherin (5);Cadherin-like (1);	0.000000	0.44483	D	0.000449	T	0.71542	0.3352	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.979	T	0.76165	-0.3059	10	0.72032	D	0.01	.	16.5626	0.84570	0.0:1.0:0.0:0.0	.	559;559	Q9P2E7;Q96SF0	PCD10_HUMAN;.	N	559	ENSP00000264360:T559N	ENSP00000264360:T559N	T	+	2	0	PCDH10	134292421	1.000000	0.71417	0.921000	0.36526	0.767000	0.43475	5.899000	0.69846	2.217000	0.71921	0.655000	0.94253	ACT		0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	broad.mit.edu	37	4	134084408	134084408	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:134084408C>T	ENST00000264360.5	+	4	3900	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1025					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1025M(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGACTAATACGCGAGCGCCT	0.488																																					p.T1025M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3074T	4						.						109.0	119.0	116.0					4																	134084408		2203	4300	6503	134303858	SO:0001583	missense	57575	exon4			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3074C>T	4.37:g.134084408C>T	ENSP00000264360:p.Thr1025Met	Somatic		Capture	Illumina HiSeq	Phase_I	134303858	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029078	0.75504	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.54279	0.58	5.24	5.24	0.73138	.	0.000000	0.40728	N	0.001032	T	0.42268	0.1195	N	0.08118	0	0.40273	D	0.978308	D	0.61080	0.989	P	0.47470	0.548	T	0.51490	-0.8699	10	0.51188	T	0.08	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	1025	Q9P2E7	PCD10_HUMAN	M	1025	ENSP00000264360:T1025M	ENSP00000264360:T1025M	T	+	2	0	PCDH10	134303858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.447000	0.52936	2.717000	0.92951	0.650000	0.86243	ACG		0.488	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	broad.mit.edu	37	4	138442332	138442332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:138442332G>A	ENST00000344876.4	-	4	3645	c.3259C>T	c.(3259-3261)Cca>Tca	p.P1087S	PCDH18_ENST00000510305.1_Missense_Mutation_p.P298S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1086S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P866S|PCDH18_ENST00000511115.1_Missense_Mutation_p.P267S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1087	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1087S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCATGGCTGGCAGCCATTTT	0.502																																					p.P1087S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3259T	4						.						47.0	44.0	45.0					4																	138442332		2203	4300	6503	138661782	SO:0001583	missense	54510	exon4			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3259C>T	4.37:g.138442332G>A	ENSP00000355082:p.Pro1087Ser	Somatic		Capture	Illumina HiSeq	Phase_I	138661782	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867514	0.72065	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53206	0.73;0.73;0.63;1.51;1.46	5.05	5.05	0.67936	.	0.000000	0.43110	D	0.000618	T	0.59088	0.2168	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.61013	-0.7148	10	0.49607	T	0.09	.	18.5017	0.90884	0.0:0.0:1.0:0.0	.	267;866;1086;1087	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	S	1087;1086;866;298;267	ENSP00000355082:P1087S;ENSP00000390688:P1086S;ENSP00000425903:P866S;ENSP00000424269:P298S;ENSP00000425647:P267S	ENSP00000355082:P1087S	P	-	1	0	PCDH18	138661782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.246000	0.95438	2.370000	0.80446	0.586000	0.80456	CCA		0.502	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452430	138452430	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:138452430C>T	ENST00000344876.4	-	1	1199	c.813G>A	c.(811-813)acG>acA	p.T271T	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.T271T|PCDH18_ENST00000507846.1_Silent_p.T51T|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T271T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATCTGGATCCGTGGCATTCA	0.413																																					p.T271T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G813A	4						.						54.0	57.0	56.0					4																	138452430		2200	4300	6500	138671880	SO:0001819	synonymous_variant	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.813G>A	4.37:g.138452430C>T		Somatic		Capture	Illumina HiSeq	Phase_I	138671880	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.413	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452561	138452561	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:138452561C>A	ENST00000344876.4	-	1	1068	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G228C|PCDH18_ENST00000507846.1_Missense_Mutation_p.G8C|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G228C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGGATGAGCCAGACCTCTGA	0.453																																					p.G228C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682T	4						.						74.0	74.0	74.0					4																	138452561		2203	4300	6503	138672011	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.682G>T	4.37:g.138452561C>A	ENSP00000355082:p.Gly228Cys	Somatic		Capture	Illumina HiSeq	Phase_I	138672011	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612848	0.66672	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60424	0.55;0.55;0.19	5.7	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000820	T	0.82185	0.4982	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86942	0.2080	10	0.87932	D	0	.	15.4989	0.75680	0.139:0.861:0.0:0.0	.	8;228;228	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	C	228;228;8	ENSP00000355082:G228C;ENSP00000390688:G228C;ENSP00000425903:G8C	ENSP00000355082:G228C	G	-	1	0	PCDH18	138672011	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	4.829000	0.62737	2.687000	0.91594	0.557000	0.71058	GGC		0.453	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452661	138452661	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:138452661C>A	ENST00000344876.4	-	1	968	c.582G>T	c.(580-582)aaG>aaT	p.K194N	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K194N|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	194	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K194N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTCTGCATACTTGGCTCCAT	0.483																																					p.K194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G582T	4						.						62.0	61.0	62.0					4																	138452661		2203	4300	6503	138672111	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.582G>T	4.37:g.138452661C>A	ENSP00000355082:p.Lys194Asn	Somatic		Capture	Illumina HiSeq	Phase_I	138672111	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206026	0.58234	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.19394	2.15;2.15	5.89	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	D	0.000381	T	0.41465	0.1160	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.34850	-0.9812	10	0.66056	D	0.02	.	13.3726	0.60721	0.0:0.8578:0.0:0.1422	.	194;194	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	N	194	ENSP00000355082:K194N;ENSP00000390688:K194N	ENSP00000355082:K194N	K	-	3	2	PCDH18	138672111	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	0.929000	0.28844	1.430000	0.47334	0.557000	0.71058	AAG		0.483	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452779	138452779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:138452779C>T	ENST00000344876.4	-	1	850	c.464G>A	c.(463-465)cGc>cAc	p.R155H	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R155H|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	155	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R155H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGGGAATGCGAGTCCCAAC	0.433																																					p.R155H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	4						.						70.0	67.0	68.0					4																	138452779		2203	4300	6503	138672229	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.464G>A	4.37:g.138452779C>T	ENSP00000355082:p.Arg155His	Somatic		Capture	Illumina HiSeq	Phase_I	138672229	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792687	0.90453	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.52983	0.64;0.64	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	0.000000	0.43416	D	0.000576	T	0.72495	0.3467	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.947;0.999	T	0.75833	-0.3178	10	0.87932	D	0	.	19.4734	0.94973	0.0:1.0:0.0:0.0	.	155;155	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	H	155	ENSP00000355082:R155H;ENSP00000390688:R155H	ENSP00000355082:R155H	R	-	2	0	PCDH18	138672229	1.000000	0.71417	0.117000	0.21633	0.604000	0.37047	6.047000	0.71038	2.606000	0.88127	0.557000	0.71058	CGC		0.433	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
NAA15	80155	broad.mit.edu	37	4	140297537	140297537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:140297537G>T	ENST00000296543.5	+	16	2289	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.E656*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	656	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E656*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATTGGAAGAAGCTATTAA	0.294																																					p.E656X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1966T	4						.						85.0	80.0	81.0					4																	140297537		1797	4064	5861	140516987	SO:0001587	stop_gained	80155	exon16			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1966G>T	4.37:g.140297537G>T	ENSP00000296543:p.Glu656*	Somatic		Capture	Illumina HiSeq	Phase_I	140516987	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	44	11.071540	0.99511	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.8006	19.6622	0.95877	0.0:0.0:1.0:0.0	.	.	.	.	X	656;530;656	.	ENSP00000296543:E656X	E	+	1	0	NAA15	140516987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.637000	0.89404	0.585000	0.79938	GAA		0.294	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	
RNF150	57484	broad.mit.edu	37	4	141889000	141889000	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:141889000A>T	ENST00000515673.2	-	2	545	c.512T>A	c.(511-513)aTt>aAt	p.I171N	RNF150_ENST00000507500.1_Missense_Mutation_p.I171N|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000420921.2_Missense_Mutation_p.I30N|RNF150_ENST00000306799.3_Missense_Mutation_p.I171N|RNF150_ENST00000379512.2_Missense_Mutation_p.I30N			Q9ULK6	RN150_HUMAN	ring finger protein 150	171	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I80N(1)|p.I171N(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGGCTCAGGAATCATTATGGC	0.478																																					p.I171N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T512A	4						.						218.0	186.0	197.0					4																	141889000		2203	4300	6503	142108450	SO:0001583	missense	57484	exon2			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.512T>A	4.37:g.141889000A>T	ENSP00000425840:p.Ile171Asn	Somatic		Capture	Illumina HiSeq	Phase_I	142108450	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709455	0.89018	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.21932	2.17;2.17;2.76;2.76;2.76;1.98	5.88	5.88	0.94601	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.93328	3.405	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	T	0.70506	-0.4853	10	0.87932	D	0	.	16.2997	0.82804	1.0:0.0:0.0:0.0	.	171;171;171	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	N	30;30;171;171;171;2	ENSP00000368827:I30N;ENSP00000394581:I30N;ENSP00000304321:I171N;ENSP00000425840:I171N;ENSP00000425568:I171N;ENSP00000425947:I2N	ENSP00000304321:I171N	I	-	2	0	RNF150	142108450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.250000	0.74265	0.528000	0.53228	ATT		0.478	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
INPP4B	8821	broad.mit.edu	37	4	143067094	143067094	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:143067094T>C	ENST00000513000.1	-	19	2052	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	INPP4B_ENST00000308502.4_Missense_Mutation_p.D540G|INPP4B_ENST00000262992.4_Missense_Mutation_p.D540G|INPP4B_ENST00000509777.1_Missense_Mutation_p.D540G|INPP4B_ENST00000508116.1_Missense_Mutation_p.D540G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	540					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.D540G(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATCAGTTTGTCCACCATAGC	0.448																																					p.D540G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1619G	4						.						228.0	187.0	201.0					4																	143067094		2203	4300	6503	143286544	SO:0001583	missense	8821	exon19			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1619A>G	4.37:g.143067094T>C	ENSP00000425487:p.Asp540Gly	Somatic		Capture	Illumina HiSeq	Phase_I	143286544	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278412	0.80692	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.972	T	0.70011	-0.4989	10	0.66056	D	0.02	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	411;540	B7Z6T2;O15327	.;INP4B_HUMAN	G	540;540;540;411;540;540;355;355;540;411	ENSP00000425487:D540G;ENSP00000262992:D540G;ENSP00000308441:D540G;ENSP00000423954:D540G;ENSP00000422793:D540G;ENSP00000426207:D355G;ENSP00000427250:D540G;ENSP00000421065:D411G	ENSP00000262992:D540G	D	-	2	0	INPP4B	143286544	1.000000	0.71417	0.953000	0.39169	0.956000	0.61745	6.489000	0.73641	2.330000	0.79161	0.528000	0.53228	GAC		0.448	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
USP38	84640	broad.mit.edu	37	4	144135650	144135650	+	Silent	SNP	C	C	T	rs372611247		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:144135650C>T	ENST00000307017.4	+	9	3027	c.2521C>T	c.(2521-2523)Cta>Tta	p.L841L	USP38_ENST00000510377.1_Silent_p.L841L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	841	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L841L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGTGCCCTATCTATTAAGTTC	0.398																																					p.L841L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2521T	4						.						104.0	98.0	100.0					4																	144135650		2203	4300	6503	144355100	SO:0001819	synonymous_variant	84640	exon9			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2521C>T	4.37:g.144135650C>T		Somatic		Capture	Illumina HiSeq	Phase_I	144355100	NM_032557	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	CCDS3758.1																																																																																				0.398	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
GAB1	2549	broad.mit.edu	37	4	144359747	144359747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:144359747C>T	ENST00000262994.4	+	4	1491	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	GAB1_ENST00000505913.1_Nonsense_Mutation_p.R294*|GAB1_ENST00000262995.4_Nonsense_Mutation_p.R397*	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	397					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R397*(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAACAAATTGCGAAAAGGTCA	0.378																																					p.R397X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1189T	4						.						92.0	87.0	89.0					4																	144359747		2203	4300	6503	144579197	SO:0001587	stop_gained	2549	exon4			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1189C>T	4.37:g.144359747C>T	ENSP00000262994:p.Arg397*	Somatic		Capture	Illumina HiSeq	Phase_I	144579197	NM_207123	A8K152|Q4W5G2|Q6P1W2	Nonsense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	41	8.575669	0.98870	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	.	.	.	5.49	5.49	0.81192	.	0.060160	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-29.1809	13.5302	0.61617	0.2745:0.7255:0.0:0.0	.	.	.	.	X	397;397;294	.	ENSP00000262994:R397X	R	+	1	2	GAB1	144579197	0.925000	0.31364	0.995000	0.50966	0.986000	0.74619	1.598000	0.36740	2.578000	0.87016	0.655000	0.94253	CGA		0.378	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
SMARCA5	8467	broad.mit.edu	37	4	144474322	144474322	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:144474322G>T	ENST00000283131.3	+	24	3606	c.3144G>T	c.(3142-3144)aaG>aaT	p.K1048N	RP11-481K16.2_ENST00000512366.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	1048					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K1048N(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAGAAAAAAGAAGCTGAAAC	0.338																																					p.K1048N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3144T	4						.						141.0	148.0	146.0					4																	144474322		2203	4300	6503	144693772	SO:0001583	missense	8467	exon24			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.3144G>T	4.37:g.144474322G>T	ENSP00000283131:p.Lys1048Asn	Somatic		Capture	Illumina HiSeq	Phase_I	144693772	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989895	0.35131	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91631	-2.88	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	N	0.19112	0.55	0.41738	D	0.989596	B	0.34181	0.44	B	0.30646	0.118	D	0.83578	0.0116	10	0.38643	T	0.18	-2.4744	11.6064	0.51035	0.0819:0.0:0.9181:0.0	.	1048	O60264	SMCA5_HUMAN	N	1048;991;991	ENSP00000283131:K1048N	ENSP00000283131:K1048N	K	+	3	2	SMARCA5	144693772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.220000	0.51207	2.492000	0.84095	0.555000	0.69702	AAG		0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
GYPE	2996	broad.mit.edu	37	4	144826643	144826643	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:144826643G>T	ENST00000358615.4	-	1	69	c.18C>A	c.(16-18)atC>atA	p.I6I	GYPE_ENST00000437468.2_Silent_p.I6I	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	6						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.I6I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					GTAATACAAAGATTATTTTTC	0.353																																					p.I6I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18A	4						.						87.0	93.0	91.0					4																	144826643		2203	4299	6502	145046093	SO:0001819	synonymous_variant	2996	exon1				CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.18C>A	4.37:g.144826643G>T		Somatic		Capture	Illumina HiSeq	Phase_I	145046093	NM_198682	D3DNZ5	Silent	SNP	ENST00000358615.4	37	CCDS47138.1																																																																																				0.353	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
HHIP	64399	broad.mit.edu	37	4	145635479	145635479	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:145635479A>G	ENST00000296575.3	+	9	2181	c.1526A>G	c.(1525-1527)tAc>tGc	p.Y509C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	509					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.Y509C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TATGGAAGCTACGTGTTTGGA	0.403																																					p.Y509C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1526G	4						.						143.0	122.0	129.0					4																	145635479		2203	4300	6503	145854929	SO:0001583	missense	64399	exon9			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1526A>G	4.37:g.145635479A>G	ENSP00000296575:p.Tyr509Cys	Somatic		Capture	Illumina HiSeq	Phase_I	145854929	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660645	0.88154	.	.	ENSG00000164161	ENST00000296575	T	0.32272	1.46	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72491	-0.4277	10	0.87932	D	0	-21.4443	16.1606	0.81704	1.0:0.0:0.0:0.0	.	509	Q96QV1	HHIP_HUMAN	C	509	ENSP00000296575:Y509C	ENSP00000296575:Y509C	Y	+	2	0	HHIP	145854929	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	5.690000	0.68241	2.227000	0.72691	0.460000	0.39030	TAC		0.403	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
HHIP	64399	broad.mit.edu	37	4	145640093	145640093	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:145640093T>G	ENST00000296575.3	+	11	2400	c.1745T>G	c.(1744-1746)aTt>aGt	p.I582S		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	582					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.I582S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTACAAAATTGTAGATCCC	0.294																																					p.I582S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1745G	4						.						96.0	99.0	98.0					4																	145640093		2203	4299	6502	145859543	SO:0001583	missense	64399	exon11			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1745T>G	4.37:g.145640093T>G	ENSP00000296575:p.Ile582Ser	Somatic		Capture	Illumina HiSeq	Phase_I	145859543	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304487	0.60305	.	.	ENSG00000164161	ENST00000296575	T	0.08896	3.04	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.171155	0.51477	D	0.000088	T	0.11750	0.0286	L	0.48986	1.54	0.80722	D	1	B	0.14012	0.009	B	0.11329	0.006	T	0.02104	-1.1213	10	0.87932	D	0	-7.484	16.017	0.80445	0.0:0.0:0.0:1.0	.	582	Q96QV1	HHIP_HUMAN	S	582	ENSP00000296575:I582S	ENSP00000296575:I582S	I	+	2	0	HHIP	145859543	1.000000	0.71417	0.935000	0.37517	0.982000	0.71751	7.503000	0.81632	2.182000	0.69389	0.455000	0.32223	ATT		0.294	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
ANAPC10	10393	broad.mit.edu	37	4	145916572	145916572	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:145916572G>T	ENST00000507656.1	-	5	604	c.511C>A	c.(511-513)Cct>Act	p.P171T	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.P171T|ANAPC10_ENST00000309439.5_Missense_Mutation_p.P171T	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	171	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.P171T(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GTACATCTAGGAAATTTACCA	0.333																																					p.P171T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511A	4						.						136.0	133.0	134.0					4																	145916572		1813	4079	5892	146136022	SO:0001583	missense	10393	exon5			AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"""Anaphase promoting complex subunits"""	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.511C>A	4.37:g.145916572G>T	ENSP00000423995:p.Pro171Thr	Somatic		Capture	Illumina HiSeq	Phase_I	146136022	NM_014885	D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544020	0.65198	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299	T;T;T	0.71934	-0.61;-0.61;-0.61	5.82	5.82	0.92795	Anaphase-promoting complex, subunit 10/DOC domain (2);	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.73598	2.24	0.80722	D	1	P	0.47034	0.889	P	0.50270	0.636	T	0.72766	-0.4194	10	0.12766	T	0.61	-10.5761	20.0937	0.97831	0.0:0.0:1.0:0.0	.	171	Q9UM13	APC10_HUMAN	T	171	ENSP00000423995:P171T;ENSP00000310071:P171T;ENSP00000403891:P171T	ENSP00000310071:P171T	P	-	1	0	ANAPC10	146136022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.677000	0.98645	2.762000	0.94881	0.484000	0.47621	CCT		0.333	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885	
ANAPC10	10393	broad.mit.edu	37	4	145916641	145916641	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:145916641C>T	ENST00000507656.1	-	5	535	c.442G>A	c.(442-444)Gga>Aga	p.G148R	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.G148R|ANAPC10_ENST00000309439.5_Missense_Mutation_p.G148R	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	148	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.G148R(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GTGTCTCTTCCATTCTGGTGA	0.383																																					p.G148R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	4						.						170.0	166.0	167.0					4																	145916641		1846	4088	5934	146136091	SO:0001583	missense	10393	exon5			AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"""Anaphase promoting complex subunits"""	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.442G>A	4.37:g.145916641C>T	ENSP00000423995:p.Gly148Arg	Somatic		Capture	Illumina HiSeq	Phase_I	146136091	NM_014885	D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928095	0.92389	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299;ENST00000514390;ENST00000513054	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.96	5.96	0.96718	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97675	1.0169	10	0.87932	D	0	-19.6516	20.394	0.98981	0.0:1.0:0.0:0.0	.	148	Q9UM13	APC10_HUMAN	R	148	ENSP00000423995:G148R;ENSP00000310071:G148R;ENSP00000403891:G148R;ENSP00000423043:G148R;ENSP00000421609:G148R	ENSP00000310071:G148R	G	-	1	0	ANAPC10	146136091	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.670000	0.83925	2.830000	0.97506	0.585000	0.79938	GGA		0.383	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885	
OTUD4	54726	broad.mit.edu	37	4	146058656	146058656	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:146058656C>A	ENST00000447906.2	-	21	3458	c.3271G>T	c.(3271-3273)Gtc>Ttc	p.V1091F	OTUD4_ENST00000454497.2_Missense_Mutation_p.V1026F|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1091					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.V1025F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGCCCTCTGACATTTCGATGG	0.493																																					p.V1026F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3076T	4						.						120.0	118.0	119.0					4																	146058656		2203	4297	6500	146278106	SO:0001583	missense	54726	exon21				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3271G>T	4.37:g.146058656C>A	ENSP00000395487:p.Val1091Phe	Somatic		Capture	Illumina HiSeq	Phase_I	146278106	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	0.001	-3.205477	0.00025	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.28666	1.6;1.61	6.17	1.04	0.20106	.	1.293310	0.05127	N	0.491720	T	0.13543	0.0328	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25916	-1.0118	10	0.09843	T	0.71	3.9103	5.0979	0.14742	0.4608:0.3057:0.0:0.2335	.	1091;1090	G3V0I6;Q01804	.;OTUD4_HUMAN	F	1026;1091	ENSP00000409279:V1026F;ENSP00000395487:V1091F	ENSP00000395487:V1091F	V	-	1	0	OTUD4	146278106	0.291000	0.24352	0.000000	0.03702	0.029000	0.11900	1.786000	0.38694	0.191000	0.20236	-0.894000	0.02916	GTC		0.493	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
OTUD4	54726	broad.mit.edu	37	4	146062645	146062645	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:146062645T>C	ENST00000447906.2	-	19	2156	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A	OTUD4_ENST00000454497.2_Missense_Mutation_p.T592A|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	657					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.T591A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGCTCAATGTCTGAGGCAAA	0.478																																					p.T592A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1774G	4						.						103.0	97.0	99.0					4																	146062645		2203	4296	6499	146282095	SO:0001583	missense	54726	exon19				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1969A>G	4.37:g.146062645T>C	ENSP00000395487:p.Thr657Ala	Somatic		Capture	Illumina HiSeq	Phase_I	146282095	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.211448	0.79240	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.35236	1.33;1.32	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.32530	0.975	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.50934	0.654;0.452	T	0.11421	-1.0588	10	0.41790	T	0.15	-7.7298	16.6512	0.85203	0.0:0.0:0.0:1.0	.	657;656	G3V0I6;Q01804	.;OTUD4_HUMAN	A	592;657	ENSP00000409279:T592A;ENSP00000395487:T657A	ENSP00000395487:T657A	T	-	1	0	OTUD4	146282095	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.073000	0.57570	2.333000	0.79357	0.482000	0.46254	ACA		0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
ZNF827	152485	broad.mit.edu	37	4	146700531	146700531	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:146700531T>C	ENST00000508784.1	-	9	2743	c.2516A>G	c.(2515-2517)cAc>cGc	p.H839R	ZNF827_ENST00000379448.4_Missense_Mutation_p.H839R|ZNF827_ENST00000513320.1_Missense_Mutation_p.H489R			Q17R98	ZN827_HUMAN	zinc finger protein 827	839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H839R(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTCACCTGTGTGCAGCGAGAG	0.512																																					p.H839R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2516G	4						.						77.0	67.0	70.0					4																	146700531		2203	4300	6503	146919981	SO:0001583	missense	152485	exon9			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2516A>G	4.37:g.146700531T>C	ENSP00000421863:p.His839Arg	Somatic		Capture	Illumina HiSeq	Phase_I	146919981	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	T	25.8	4.678184	0.88542	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	D;D;D	0.81908	-1.55;-1.55;-1.55	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.85710	2.77	0.58432	D	0.999994	D;D;D	0.62365	0.989;0.991;0.989	D;D;D	0.78314	0.985;0.991;0.985	D	0.93074	0.6485	10	0.87932	D	0	-17.7233	16.0742	0.80958	0.0:0.0:0.0:1.0	.	489;839;839	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	R	839;489;839;838;489	ENSP00000421863:H839R;ENSP00000423130:H489R;ENSP00000368761:H839R	ENSP00000281318:H838R	H	-	2	0	ZNF827	146919981	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.665000	0.83852	2.204000	0.70986	0.482000	0.46254	CAC		0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
ZNF827	152485	broad.mit.edu	37	4	146823704	146823704	+	Missense_Mutation	SNP	C	C	T	rs183753225	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:146823704C>T	ENST00000508784.1	-	2	934	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.R236Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R236Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGACTCAAATCGCATGGTCTC	0.512													C|||	3	0.000599042	0.0	0.0043	5008	,	,		17350	0.0		0.0	False		,,,				2504	0.0				p.R236Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G707A	4						.						75.0	69.0	71.0					4																	146823704		2203	4300	6503	147043154	SO:0001583	missense	152485	exon2			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.707G>A	4.37:g.146823704C>T	ENSP00000421863:p.Arg236Gln	Somatic		Capture	Illumina HiSeq	Phase_I	147043154	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	17.20	3.330076	0.60743	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09630	2.96;3.0	5.84	5.84	0.93424	.	0.052511	0.85682	D	0.000000	T	0.06554	0.0168	N	0.24115	0.695	0.41790	D	0.989861	P;P	0.50710	0.897;0.938	B;B	0.42386	0.215;0.386	T	0.03524	-1.1028	10	0.66056	D	0.02	-8.0362	13.344	0.60561	0.0:0.9281:0.0:0.0719	.	236;236	Q17R98;Q17R98-2	ZN827_HUMAN;.	Q	236;236;235	ENSP00000421863:R236Q;ENSP00000368761:R236Q	ENSP00000281318:R235Q	R	-	2	0	ZNF827	147043154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.533000	0.67160	2.768000	0.95171	0.561000	0.74099	CGA		0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
TTC29	83894	broad.mit.edu	37	4	147830237	147830237	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:147830237G>T	ENST00000325106.4	-	5	567	c.341C>A	c.(340-342)cCt>cAt	p.P114H	TTC29_ENST00000513335.1_Missense_Mutation_p.P140H|TTC29_ENST00000398886.4_Missense_Mutation_p.P140H	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	114								p.P114H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTTTATCAGGCTGCTCCTC	0.587																																					p.P114H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341A	4						.						100.0	101.0	101.0					4																	147830237		1942	4142	6084	148049687	SO:0001583	missense	83894	exon5			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.341C>A	4.37:g.147830237G>T	ENSP00000316740:p.Pro114His	Somatic		Capture	Illumina HiSeq	Phase_I	148049687	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542529	0.45280	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.03	2.35	0.29111	.	0.283495	0.34156	N	0.004212	T	0.27559	0.0677	L	0.46157	1.445	0.37706	D	0.924413	P;D;P	0.76494	0.518;0.999;0.518	B;D;B	0.66351	0.104;0.943;0.104	T	0.30794	-0.9966	10	0.19590	T	0.45	-3.256	3.804	0.08770	0.132:0.1304:0.6029:0.1347	.	114;140;114	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	H	140;140;114;114;114	ENSP00000423505:P140H;ENSP00000381861:P140H;ENSP00000316740:P114H;ENSP00000425778:P114H	ENSP00000316740:P114H	P	-	2	0	TTC29	148049687	0.998000	0.40836	0.906000	0.35671	0.886000	0.51366	2.620000	0.46410	0.245000	0.21373	0.655000	0.94253	CCT		0.587	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
TTC29	83894	broad.mit.edu	37	4	147830383	147830383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:147830383C>A	ENST00000325106.4	-	5	421	c.195G>T	c.(193-195)aaG>aaT	p.K65N	TTC29_ENST00000513335.1_Missense_Mutation_p.K91N|TTC29_ENST00000398886.4_Missense_Mutation_p.K91N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	65								p.K65N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGATATTCTTCTTGTAGGAGT	0.438																																					p.K65N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G195T	4						.						45.0	45.0	45.0					4																	147830383		1909	4138	6047	148049833	SO:0001583	missense	83894	exon5			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.195G>T	4.37:g.147830383C>A	ENSP00000316740:p.Lys65Asn	Somatic		Capture	Illumina HiSeq	Phase_I	148049833	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857810	0.71834	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425;ENST00000515315	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.05	4.2	0.49525	.	0.239840	0.34223	N	0.004152	T	0.26882	0.0658	M	0.69823	2.125	0.35163	D	0.770845	P;P;P	0.51791	0.948;0.919;0.948	B;P;B	0.46275	0.391;0.51;0.391	T	0.47699	-0.9097	10	0.48119	T	0.1	-11.1958	15.1315	0.72527	0.1426:0.8574:0.0:0.0	.	65;91;65	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	91;91;65;65;65;91	ENSP00000423505:K91N;ENSP00000381861:K91N;ENSP00000316740:K65N;ENSP00000425778:K65N	ENSP00000316740:K65N	K	-	3	2	TTC29	148049833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.625000	0.37029	1.231000	0.43661	0.655000	0.94253	AAG		0.438	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
PRMT9	90826	broad.mit.edu	37	4	148579069	148579069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:148579069C>A	ENST00000322396.6	-	8	1446	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	PRMT10_ENST00000541232.1_Nonsense_Mutation_p.E289*|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		402	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.E402*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGTATGCCTTCTTTAATAACA	0.353																																					p.E402X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1204T	4						.						87.0	73.0	78.0					4																	148579069		2203	4299	6502	148798519	SO:0001587	stop_gained	90826	exon8																														ENST00000322396.6:c.1204G>T	4.37:g.148579069C>A	ENSP00000314396:p.Glu402*	Somatic		Capture	Illumina HiSeq	Phase_I	148798519	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	39	7.465757	0.98302	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.61	5.61	0.85477	.	0.218559	0.47455	D	0.000238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-7.8036	10.1301	0.42674	0.0:0.852:0.0:0.148	.	.	.	.	X	402;289	.	ENSP00000314396:E402X	E	-	1	0	PRMT10	148798519	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.857000	0.48349	2.639000	0.89480	0.655000	0.94253	GAA		0.353	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
ARHGAP10	79658	broad.mit.edu	37	4	148768342	148768342	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:148768342A>C	ENST00000336498.3	+	4	592	c.353A>C	c.(352-354)aAa>aCa	p.K118T		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.K118T(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCCTTGGAAAAATTCAGAAAA	0.358																																					p.K118T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A353C	4						.						91.0	87.0	89.0					4																	148768342		2203	4300	6503	148987792	SO:0001583	missense	79658	exon4			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.353A>C	4.37:g.148768342A>C	ENSP00000336923:p.Lys118Thr	Somatic		Capture	Illumina HiSeq	Phase_I	148987792	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364145	0.41902	.	.	ENSG00000071205	ENST00000336498	T	0.04862	3.54	5.07	5.07	0.68467	IRSp53/MIM homology domain (IMD) (1);	0.140054	0.64402	D	0.000005	T	0.09113	0.0225	M	0.71036	2.16	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05886	-1.0858	10	0.49607	T	0.09	.	7.791	0.29121	0.9061:0.0:0.0939:0.0	.	118	A1A4S6	RHG10_HUMAN	T	118	ENSP00000336923:K118T	ENSP00000336923:K118T	K	+	2	0	ARHGAP10	148987792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.034000	0.60081	0.482000	0.46254	AAA		0.358	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
CC2D2A	57545	broad.mit.edu	37	4	15556721	15556721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:15556721C>A	ENST00000503292.1	+	21	2693	c.2513C>A	c.(2512-2514)tCa>tAa	p.S838*	CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.S838*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.S838*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.S789*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	838					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.S789*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATGCCATCTCATCTATTGGC	0.458																																					p.S838X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2513A	4						.						79.0	81.0	80.0					4																	15556721		1962	4153	6115	15165819	SO:0001587	stop_gained	57545	exon21			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2513C>A	4.37:g.15556721C>A	ENSP00000421809:p.Ser838*	Somatic		Capture	Illumina HiSeq	Phase_I	15165819	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419358	0.96092	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.53	5.53	0.82687	.	0.400623	0.24534	N	0.037681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.4556	0.94886	0.0:1.0:0.0:0.0	.	.	.	.	X	838;838;789;789;838;789	.	ENSP00000374303:S789X	S	+	2	0	CC2D2A	15165819	1.000000	0.71417	0.971000	0.41717	0.713000	0.41058	5.868000	0.69605	2.613000	0.88420	0.650000	0.86243	TCA		0.458	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
CC2D2A	57545	broad.mit.edu	37	4	15581669	15581669	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:15581669C>T	ENST00000503292.1	+	31	4030	c.3850C>T	c.(3850-3852)Cgt>Tgt	p.R1284C	CC2D2A_ENST00000424120.1_Missense_Mutation_p.R1284C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R1284C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R1176C	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1284					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.R1176C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTTTCCAAATCGTCAGTGCCT	0.368																																					p.R1284C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3850T	4						.						125.0	120.0	122.0					4																	15581669		1842	4101	5943	15190767	SO:0001583	missense	57545	exon31			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3850C>T	4.37:g.15581669C>T	ENSP00000421809:p.Arg1284Cys	Somatic		Capture	Illumina HiSeq	Phase_I	15190767	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941343	0.73557	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97796	1.0241	10	0.59425	D	0.04	.	18.6661	0.91491	0.0:1.0:0.0:0.0	.	1284;1176	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	C	1284;1284;1176;1176;1284;1176	ENSP00000403465:R1284C;ENSP00000398391:R1284C;ENSP00000421809:R1284C;ENSP00000374303:R1176C	ENSP00000374303:R1176C	R	+	1	0	CC2D2A	15190767	1.000000	0.71417	0.205000	0.23548	0.581000	0.36288	5.882000	0.69714	2.411000	0.81874	0.650000	0.86243	CGT		0.368	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
NR3C2	4306	broad.mit.edu	37	4	149035313	149035313	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:149035313G>T	ENST00000358102.3	-	8	3103	c.2741C>A	c.(2740-2742)tCt>tAt	p.S914Y	NR3C2_ENST00000355292.3_Missense_Mutation_p.S918Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.S914Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.S797Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.S918Y	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	914	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S914Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTCTGCCCAGAATTGTTGGG	0.483																																					p.S797Y	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2390A	4						.						151.0	126.0	134.0					4																	149035313		2203	4300	6503	149254763	SO:0001583	missense	4306	exon7			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2741C>A	4.37:g.149035313G>T	ENSP00000350815:p.Ser914Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149254763	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950661	0.92660	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.68	5.68	0.88126	.	0.114824	0.64402	D	0.000007	D	0.97467	0.9171	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.72338	0.893;0.977	D	0.96886	0.9649	9	.	.	.	.	19.8441	0.96702	0.0:0.0:1.0:0.0	.	797;914	B0ZBF5;B0ZBF6	.;.	Y	914;918;914;797;918	ENSP00000341390:S914Y;ENSP00000347441:S918Y;ENSP00000350815:S914Y;ENSP00000423510:S797Y;ENSP00000421481:S918Y	.	S	-	2	0	NR3C2	149254763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.822000	0.99363	2.681000	0.91329	0.650000	0.86243	TCT		0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
BST1	683	broad.mit.edu	37	4	15709250	15709250	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:15709250T>C	ENST00000265016.4	+	3	627	c.432T>C	c.(430-432)tgT>tgC	p.C144C	BST1_ENST00000382346.3_Silent_p.C159C	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	144					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.C144C(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TGAGCTGGTGTCGACAGAAAA	0.433																																					p.C144C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T432C	4						.						119.0	114.0	116.0					4																	15709250		2203	4300	6503	15318348	SO:0001819	synonymous_variant	683	exon3			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.432T>C	4.37:g.15709250T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15318348	NM_004334	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	ENST00000265016.4	37	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	T	8.115	0.779615	0.16120	.	.	ENSG00000109743	ENST00000505785	.	.	.	5.62	4.45	0.53987	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54906	-0.8223	4	.	.	.	-27.7383	7.9771	0.30161	0.0:0.092:0.0:0.908	.	.	.	.	A	40	.	.	V	+	2	0	BST1	15318348	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	0.472000	0.22116	0.980000	0.38523	0.482000	0.46254	GTC		0.433	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334	
LRBA	987	broad.mit.edu	37	4	151749692	151749692	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:151749692T>C	ENST00000357115.3	-	30	5054	c.4811A>G	c.(4810-4812)gAc>gGc	p.D1604G	LRBA_ENST00000535741.1_Missense_Mutation_p.D1604G|LRBA_ENST00000507224.1_Missense_Mutation_p.D1604G|LRBA_ENST00000510413.1_Missense_Mutation_p.D1604G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1604						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1604G(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGCCTGAGTCCCTCCTTCG	0.493																																					p.D1604G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4811G	4						.						356.0	334.0	342.0					4																	151749692		2203	4300	6503	151969142	SO:0001583	missense	987	exon30			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4811A>G	4.37:g.151749692T>C	ENSP00000349629:p.Asp1604Gly	Somatic		Capture	Illumina HiSeq	Phase_I	151969142	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.0|20.0	3.930144|3.930144	0.73327|0.73327	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.66099|.	0.27;0.42;0.27;-0.19|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	1.006350|.	0.07986|.	N|.	0.986345|.	T|T	0.70316|0.70316	0.3210|0.3210	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P;B|.	0.36144|.	0.539;0.073|.	B;B|.	0.34991|.	0.193;0.079|.	T|T	0.69323|0.69323	-0.5175|-0.5175	10|5	0.48119|.	T|.	0.1|.	.|.	15.3232|15.3232	0.74139|0.74139	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1604;1604|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	G|A	1604|257	ENSP00000446299:D1604G;ENSP00000421552:D1604G;ENSP00000349629:D1604G;ENSP00000422180:D1604G|.	ENSP00000349629:D1604G|.	D|T	-|-	2|1	0|0	LRBA|LRBA	151969142|151969142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.543000|5.543000	0.67225|0.67225	2.027000|2.027000	0.59764|0.59764	0.454000|0.454000	0.30748|0.30748	GAC|ACT		0.493	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FBXW7	55294	broad.mit.edu	37	4	153332524	153332524	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:153332524C>T	ENST00000281708.4	-	2	1661	c.432G>A	c.(430-432)acG>acA	p.T144T	FBXW7_ENST00000603841.1_Silent_p.T144T|FBXW7_ENST00000603548.1_Silent_p.T144T|FBXW7_ENST00000604872.1_Silent_p.T144T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	144			T -> R (in dbSNP:rs7660281).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.T144T(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACTGGAGTTCGTGACACTGT	0.423			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.T144T			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G432A	4						.						272.0	197.0	223.0					4																	153332524		2203	4300	6503	153551974	SO:0001819	synonymous_variant	55294	exon2			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.432G>A	4.37:g.153332524C>T		Somatic		Capture	Illumina HiSeq	Phase_I	153551974	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.423	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
TIGD4	201798	broad.mit.edu	37	4	153691255	153691255	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:153691255G>A	ENST00000304337.2	-	2	1722	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	301	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S301F(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TAACTCAATGGATTTTAGGTT	0.368																																					p.S301F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	4						.						121.0	127.0	125.0					4																	153691255		2203	4300	6503	153910705	SO:0001583	missense	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.902C>T	4.37:g.153691255G>A	ENSP00000355162:p.Ser301Phe	Somatic		Capture	Illumina HiSeq	Phase_I	153910705	NM_145720	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301622	0.40694	.	.	ENSG00000169989	ENST00000304337	T	0.44881	0.91	5.93	5.93	0.95920	.	0.000000	0.49305	D	0.000158	T	0.41673	0.1169	M	0.61703	1.905	0.33540	D	0.594799	P	0.44195	0.828	B	0.43194	0.411	T	0.52689	-0.8542	10	0.20046	T	0.44	-8.3983	11.298	0.49290	0.0:0.1361:0.7229:0.141	.	301	Q8IY51	TIGD4_HUMAN	F	301	ENSP00000355162:S301F	ENSP00000355162:S301F	S	-	2	0	TIGD4	153910705	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.114000	0.50383	2.805000	0.96524	0.655000	0.94253	TCC		0.368	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
TIGD4	201798	broad.mit.edu	37	4	153691588	153691588	+	Missense_Mutation	SNP	C	C	T	rs138989925		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:153691588C>T	ENST00000304337.2	-	2	1389	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	190	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R190Q(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGGTAACATTCGATAAAGCAG	0.348																																					p.R190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	4						.	C	GLN/ARG	0,4406		0,0,2203	64.0	66.0	65.0		569	5.7	1.0	4	dbSNP_134	65	1,8593	1.2+/-3.3	0,1,4296	no	missense	TIGD4	NM_145720.3	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/513	153691588	1,12999	2203	4297	6500	153911038	SO:0001583	missense	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.569G>A	4.37:g.153691588C>T	ENSP00000355162:p.Arg190Gln	Somatic		Capture	Illumina HiSeq	Phase_I	153911038	NM_145720	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	6.924	0.540159	0.13250	0.0	1.16E-4	ENSG00000169989	ENST00000304337	T	0.42131	0.98	5.7	5.7	0.88788	.	0.000000	0.36409	N	0.002612	T	0.28962	0.0719	L	0.42529	1.33	0.30162	N	0.802108	P	0.34724	0.465	B	0.25405	0.06	T	0.26155	-1.0111	10	0.30078	T	0.28	-11.9026	8.1622	0.31204	0.0:0.811:0.0:0.189	.	190	Q8IY51	TIGD4_HUMAN	Q	190	ENSP00000355162:R190Q	ENSP00000355162:R190Q	R	-	2	0	TIGD4	153911038	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.846000	0.27682	2.861000	0.98227	0.655000	0.94253	CGA		0.348	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
FHDC1	85462	broad.mit.edu	37	4	153875371	153875371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:153875371C>A	ENST00000511601.1	+	4	751	c.563C>A	c.(562-564)tCt>tAt	p.S188Y	FHDC1_ENST00000260008.3_Missense_Mutation_p.S188Y			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	188	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.S188Y(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTTTCAAGGTCTCCTCGGTCC	0.433																																					p.S188Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C563A	4						.						86.0	86.0	86.0					4																	153875371		2203	4300	6503	154094821	SO:0001583	missense	85462	exon3			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.563C>A	4.37:g.153875371C>A	ENSP00000427567:p.Ser188Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	154094821	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725195	0.89298	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.19394	2.15;2.15	5.9	5.9	0.94986	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.106126	0.64402	D	0.000003	T	0.58906	0.2155	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66464	-0.5917	10	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	188	Q9C0D6	FHDC1_HUMAN	Y	188	ENSP00000427567:S188Y;ENSP00000260008:S188Y	ENSP00000260008:S188Y	S	+	2	0	FHDC1	154094821	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.047000	0.76599	2.797000	0.96272	0.655000	0.94253	TCT		0.433	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FHDC1	85462	broad.mit.edu	37	4	153881906	153881906	+	Missense_Mutation	SNP	C	C	T	rs561578259		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:153881906C>T	ENST00000511601.1	+	6	948	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R254W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	254	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.R254W(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTATTCACTTCGGATTGAAGC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		17604	0.001		0.0	False		,,,				2504	0.0				p.R254W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C760T	4						.						101.0	100.0	100.0					4																	153881906		2202	4300	6502	154101356	SO:0001583	missense	85462	exon5			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.760C>T	4.37:g.153881906C>T	ENSP00000427567:p.Arg254Trp	Somatic		Capture	Illumina HiSeq	Phase_I	154101356	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078861	0.76528	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.40756	1.02;1.02	5.9	4.13	0.48395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82402	-0.0475	10	0.87932	D	0	.	14.8981	0.70659	0.3898:0.6102:0.0:0.0	.	254	Q9C0D6	FHDC1_HUMAN	W	254	ENSP00000427567:R254W;ENSP00000260008:R254W	ENSP00000260008:R254W	R	+	1	2	FHDC1	154101356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.163000	0.58183	0.777000	0.33496	0.655000	0.94253	CGG		0.328	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
TRIM2	23321	broad.mit.edu	37	4	154237137	154237137	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:154237137G>A	ENST00000437508.2	+	8	1888	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	TRIM2_ENST00000338700.5_Missense_Mutation_p.D590N	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	563					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D563N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTCTCCTCCGATGGGAAATT	0.408																																					p.D590N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1768A	4						.						50.0	54.0	52.0					4																	154237137		2203	4300	6503	154456587	SO:0001583	missense	23321	exon8			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1687G>A	4.37:g.154237137G>A	ENSP00000415812:p.Asp563Asn	Somatic		Capture	Illumina HiSeq	Phase_I	154456587	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720443	0.89205	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.90900	-2.75;-2.75	5.07	5.07	0.68467	Six-bladed beta-propeller, TolB-like (1);	0.046127	0.85682	D	0.000000	D	0.85852	0.5793	L	0.42632	1.34	0.80722	D	1	P;P	0.47302	0.893;0.825	B;B	0.34722	0.142;0.188	D	0.86047	0.1523	10	0.33940	T	0.23	-15.3656	18.8059	0.92037	0.0:0.0:1.0:0.0	.	590;563	D3DP09;Q9C040	.;TRIM2_HUMAN	N	563;590	ENSP00000415812:D563N;ENSP00000339659:D590N	ENSP00000339659:D590N	D	+	1	0	TRIM2	154456587	1.000000	0.71417	0.939000	0.37840	0.860000	0.49131	9.813000	0.99286	2.506000	0.84524	0.650000	0.86243	GAT		0.408	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
KIAA0922	23240	broad.mit.edu	37	4	154523697	154523697	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:154523697C>A	ENST00000409663.3	+	23	2506	c.2454C>A	c.(2452-2454)ttC>ttA	p.F818L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.F819L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.F735L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	818						integral component of membrane (GO:0016021)		p.F671L(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTTTCAGGTTCACTCCAGACT	0.393																																					p.F818L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2454A	4						.						74.0	73.0	74.0					4																	154523697		2203	4300	6503	154743147	SO:0001583	missense	23240	exon23			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2454C>A	4.37:g.154523697C>A	ENSP00000386574:p.Phe818Leu	Somatic		Capture	Illumina HiSeq	Phase_I	154743147	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534889	0.64972	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.42131	1.2;0.98;1.19;0.99	5.62	-2.33	0.06724	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.87971	2.92	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.99;0.999;0.993	T	0.69785	-0.5051	10	0.72032	D	0.01	-24.8539	13.4432	0.61125	0.0:0.7523:0.0:0.2477	.	735;819;818	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	818;735;819;596	ENSP00000386574:F818L;ENSP00000409663:F735L;ENSP00000386787:F819L;ENSP00000240487:F596L	ENSP00000240487:F596L	F	+	3	2	KIAA0922	154743147	0.971000	0.33674	0.991000	0.47740	0.826000	0.46750	0.078000	0.14761	-0.335000	0.08451	-0.150000	0.13652	TTC		0.393	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
RNF175	285533	broad.mit.edu	37	4	154633695	154633695	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:154633695G>A	ENST00000347063.4	-	8	1170	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	266						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I266I(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TTTTCCCAACGATACACCAAC	0.393																																					p.I266I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C798T	4						.						78.0	74.0	75.0					4																	154633695		1911	4127	6038	154853145	SO:0001819	synonymous_variant	285533	exon8			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.798C>T	4.37:g.154633695G>A		Somatic		Capture	Illumina HiSeq	Phase_I	154853145	NM_173662	C9JL66|Q8NB61	Silent	SNP	ENST00000347063.4	37	CCDS47149.1																																																																																				0.393	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662	
DCHS2	54798	broad.mit.edu	37	4	155157658	155157658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155157658C>A	ENST00000357232.4	-	25	6780	c.6781G>T	c.(6781-6783)Gaa>Taa	p.E2261*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2261	Cadherin 20. {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)	p.E2261*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGTTTTCTTCTAAGTAAAAA	0.373																																					p.E2261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6781T	4						.						89.0	96.0	93.0					4																	155157658		2203	4300	6503	155377108	SO:0001587	stop_gained	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6781G>T	4.37:g.155157658C>A	ENSP00000349768:p.Glu2261*	Somatic		Capture	Illumina HiSeq	Phase_I	155377108	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	46	12.658042	0.99686	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.64	5.64	0.86602	.	0.077358	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	.	.	.	X	2261	.	ENSP00000349768:E2261X	E	-	1	0	DCHS2	155377108	1.000000	0.71417	0.930000	0.37139	0.900000	0.52787	6.079000	0.71291	2.637000	0.89404	0.563000	0.77884	GAA		0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155157992	155157992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155157992G>T	ENST00000357232.4	-	25	6446	c.6447C>A	c.(6445-6447)ttC>ttA	p.F2149L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2149	Cadherin 19. {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)	p.F2149L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAATGAAAGAACTTAGTTT	0.393																																					p.F2149L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6447A	4						.						91.0	90.0	90.0					4																	155157992		2203	4300	6503	155377442	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6447C>A	4.37:g.155157992G>T	ENSP00000349768:p.Phe2149Leu	Somatic		Capture	Illumina HiSeq	Phase_I	155377442	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.833508	0.00579	.	.	ENSG00000197410	ENST00000357232	T	0.50277	0.75	5.95	-5.21	0.02815	Cadherin (4);Cadherin-like (1);	0.984952	0.08291	N	0.968465	T	0.14570	0.0352	N	0.03917	-0.325	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.05620	T	0.96	.	2.6625	0.05031	0.4253:0.0754:0.2754:0.2239	.	2149	Q6V1P9	PCD23_HUMAN	L	2149	ENSP00000349768:F2149L	ENSP00000349768:F2149L	F	-	3	2	DCHS2	155377442	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.046000	0.03525	-0.588000	0.05882	0.563000	0.77884	TTC		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155160397	155160397	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155160397C>A	ENST00000357232.4	-	24	6051	c.6052G>T	c.(6052-6054)Gac>Tac	p.D2018Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2018	Cadherin 18. {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)	p.D2018Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTTCTAAGTCTGTGGCTGAC	0.378																																					p.D2018Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6052T	4						.						65.0	64.0	65.0					4																	155160397		2203	4300	6503	155379847	SO:0001583	missense	54798	exon24			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6052G>T	4.37:g.155160397C>A	ENSP00000349768:p.Asp2018Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	155379847	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509395	0.64522	.	.	ENSG00000197410	ENST00000357232	T	0.75260	-0.92	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94713	0.7894	10	0.87932	D	0	.	18.2689	0.90062	0.0:1.0:0.0:0.0	.	2018	Q6V1P9	PCD23_HUMAN	Y	2018	ENSP00000349768:D2018Y	ENSP00000349768:D2018Y	D	-	1	0	DCHS2	155379847	1.000000	0.71417	0.979000	0.43373	0.411000	0.31082	5.870000	0.69620	2.741000	0.93983	0.555000	0.69702	GAC		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155237036	155237036	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155237036C>T	ENST00000357232.4	-	15	3758	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1253	Cadherin 10. {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)	p.Q1253Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTCAAAGTCTGGGATGAAG	0.418																																					p.Q1253Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3759A	4						.						115.0	109.0	111.0					4																	155237036		2203	4300	6503	155456486	SO:0001819	synonymous_variant	54798	exon15			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3759G>A	4.37:g.155237036C>T		Somatic		Capture	Illumina HiSeq	Phase_I	155456486	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155241708	155241708	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155241708C>A	ENST00000357232.4	-	14	3477	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1160	Cadherin 9. {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)	p.D1160Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGTTGTGGTCATTTACATCC	0.473																																					p.D1160Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3478T	4						.						200.0	190.0	194.0					4																	155241708		2203	4300	6503	155461158	SO:0001583	missense	54798	exon14			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3478G>T	4.37:g.155241708C>A	ENSP00000349768:p.Asp1160Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	155461158	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310732	0.81358	.	.	ENSG00000197410	ENST00000357232	T	0.65549	-0.16	5.59	5.59	0.84812	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.075755	0.52532	D	0.000061	D	0.88945	0.6575	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93361	0.6727	10	0.87932	D	0	.	19.5985	0.95549	0.0:1.0:0.0:0.0	.	1160	Q6V1P9	PCD23_HUMAN	Y	1160	ENSP00000349768:D1160Y	ENSP00000349768:D1160Y	D	-	1	0	DCHS2	155461158	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.487000	0.81328	2.636000	0.89361	0.563000	0.77884	GAC		0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155243611	155243611	+	Missense_Mutation	SNP	C	C	T	rs149408596		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155243611C>T	ENST00000357232.4	-	13	2682	c.2683G>A	c.(2683-2685)Gcc>Acc	p.A895T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	895	Cadherin 7. {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)	p.A895T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATTGTTGGCGTCAATCTTA	0.358																																					p.A895T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2683A	4						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	149.0	125.0	133.0		2683	4.9	1.0	4	dbSNP_134	133	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	895/2917	155243611	1,13005	2203	4300	6503	155463061	SO:0001583	missense	54798	exon13			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2683G>A	4.37:g.155243611C>T	ENSP00000349768:p.Ala895Thr	Somatic		Capture	Illumina HiSeq	Phase_I	155463061	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510239	0.85282	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.47869	0.83	5.73	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.176208	0.37955	N	0.001867	T	0.43743	0.1261	L	0.31065	0.9	0.80722	D	1	D	0.71674	0.998	P	0.51806	0.68	T	0.20739	-1.0266	10	0.22109	T	0.4	.	11.9463	0.52930	0.0:0.8606:0.0:0.1394	.	895	Q6V1P9	PCD23_HUMAN	T	895	ENSP00000349768:A895T	ENSP00000349768:A895T	A	-	1	0	DCHS2	155463061	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.020000	0.30027	1.552000	0.49463	0.655000	0.94253	GCC		0.358	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
PLRG1	5356	broad.mit.edu	37	4	155468976	155468976	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155468976C>T	ENST00000499023.2	-	3	272	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PLRG1_ENST00000393905.2_Missense_Mutation_p.R49H|PLRG1_ENST00000302078.5_Missense_Mutation_p.R49H	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	49					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.R49H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				ATACTCATTACGAAGCTTGAT	0.333																																					p.R49H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G146A	4						.						96.0	91.0	93.0					4																	155468976		2203	4300	6503	155688426	SO:0001583	missense	5356	exon3			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.146G>A	4.37:g.155468976C>T	ENSP00000424417:p.Arg49His	Somatic		Capture	Illumina HiSeq	Phase_I	155688426	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356029	0.41700	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61859	0.07;0.07;0.09	5.96	3.94	0.45596	.	0.101015	0.64402	D	0.000003	T	0.54191	0.1843	M	0.65975	2.015	0.48632	D	0.999685	B;B	0.13145	0.007;0.002	B;B	0.08055	0.003;0.001	T	0.52881	-0.8516	10	0.25751	T	0.34	-8.6873	14.0197	0.64545	0.0:0.8592:0.0:0.1408	.	49;49	O43660-2;O43660	.;PLRG1_HUMAN	H	49;49;49;47	ENSP00000424417:R49H;ENSP00000377483:R49H;ENSP00000303191:R49H	ENSP00000303191:R49H	R	-	2	0	PLRG1	155688426	0.943000	0.32029	1.000000	0.80357	0.998000	0.95712	1.369000	0.34227	1.533000	0.49186	0.655000	0.94253	CGT		0.333	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
FGB	2244	broad.mit.edu	37	4	155490793	155490793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155490793G>T	ENST00000302068.4	+	7	1149	c.1086G>T	c.(1084-1086)caG>caT	p.Q362H	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.Q143H	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	362	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.Q362H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCACTGTACAGAATGAAGCCA	0.458																																					p.Q362H	NSCLC(106;1133 1613 21870 46110 52656)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1086T	4						.						122.0	106.0	111.0					4																	155490793		2203	4300	6503	155710243	SO:0001583	missense	2244	exon7				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1086G>T	4.37:g.155490793G>T	ENSP00000306099:p.Gln362His	Somatic		Capture	Illumina HiSeq	Phase_I	155710243	NM_005141	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194678	0.22037	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81247	-1.47;-1.47	5.53	2.76	0.32466	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.262799	0.44902	N	0.000416	T	0.75810	0.3900	L	0.32530	0.975	0.49915	D	0.99983	D;P	0.55385	0.971;0.842	P;P	0.55545	0.778;0.581	T	0.70821	-0.4768	10	0.41790	T	0.15	.	3.7273	0.08480	0.1337:0.2441:0.496:0.1261	.	345;362	B4E1D3;P02675	.;FIBB_HUMAN	H	362;345;143	ENSP00000306099:Q362H;ENSP00000426757:Q143H	ENSP00000306099:Q362H	Q	+	3	2	FGB	155710243	1.000000	0.71417	0.221000	0.23827	0.493000	0.33554	2.829000	0.48128	0.333000	0.23563	0.655000	0.94253	CAG		0.458	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
FGA	2243	broad.mit.edu	37	4	155505902	155505902	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155505902A>C	ENST00000302053.3	-	6	2053	c.1975T>G	c.(1975-1977)Ttt>Gtt	p.F659V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	659	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.F659V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAAACAGAAAAAATCTTACTG	0.403																																					p.F659V	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1975G	4						.						52.0	53.0	52.0					4																	155505902		2203	4300	6503	155725352	SO:0001583	missense	2243	exon6				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1975T>G	4.37:g.155505902A>C	ENSP00000306361:p.Phe659Val	Somatic		Capture	Illumina HiSeq	Phase_I	155725352	NM_000508	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450673	0.26074	.	.	ENSG00000171560	ENST00000302053	T	0.77229	-1.08	5.46	4.24	0.50183	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.164918	0.56097	D	0.000032	T	0.60856	0.2301	N	0.12527	0.23	0.80722	D	1	B	0.23937	0.094	B	0.32149	0.141	T	0.57382	-0.7821	10	0.31617	T	0.26	.	8.3705	0.32412	0.7809:0.1443:0.0748:0.0	.	659	P02671	FIBA_HUMAN	V	659	ENSP00000306361:F659V	ENSP00000306361:F659V	F	-	1	0	FGA	155725352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.340000	0.43974	2.066000	0.61787	0.528000	0.53228	TTT		0.403	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
FGG	2266	broad.mit.edu	37	4	155527861	155527861	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155527861G>A	ENST00000336098.3	-	8	1163	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	FGG_ENST00000407946.1_Silent_p.Y383Y|FGG_ENST00000405164.1_Silent_p.Y383Y|FGG_ENST00000404648.3_Silent_p.Y375Y	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	375	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.Y375Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACATACCTTGGTAATAAACTC	0.323																																					p.Y375Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1125T	4						.						139.0	133.0	135.0					4																	155527861		2203	4300	6503	155747311	SO:0001819	synonymous_variant	2266	exon8				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1125C>T	4.37:g.155527861G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155747311	NM_021870	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	CCDS3788.1																																																																																				0.323	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
FGG	2266	broad.mit.edu	37	4	155533713	155533713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155533713G>T	ENST00000336098.3	-	1	87	c.49C>A	c.(49-51)Ctt>Att	p.L17I	FGG_ENST00000407946.1_Missense_Mutation_p.L17I|FGG_ENST00000405164.1_Missense_Mutation_p.L17I|FGG_ENST00000404648.3_Missense_Mutation_p.L17I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	17					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.L17I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGAAATAAAAGAGCATAGAAG	0.418																																					p.L17I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	4						.						89.0	97.0	94.0					4																	155533713		2203	4300	6503	155753163	SO:0001583	missense	2266	exon1				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.49C>A	4.37:g.155533713G>T	ENSP00000336829:p.Leu17Ile	Somatic		Capture	Illumina HiSeq	Phase_I	155753163	NM_021870	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233573	0.39498	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.60920	0.22;0.19;0.18;0.15	5.83	1.55	0.23275	.	0.396202	0.27270	N	0.020121	T	0.58481	0.2125	L	0.60455	1.87	0.09310	N	1	B;P;P;P	0.52842	0.314;0.926;0.926;0.956	B;P;P;P	0.54026	0.065;0.554;0.554;0.74	T	0.49523	-0.8931	10	0.51188	T	0.08	.	5.2857	0.15700	0.3383:0.1495:0.5122:0.0	.	17;17;17;17	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	I	17	ENSP00000384860:L17I;ENSP00000384101:L17I;ENSP00000336829:L17I;ENSP00000384552:L17I	ENSP00000336829:L17I	L	-	1	0	FGG	155753163	0.112000	0.22096	0.004000	0.12327	0.308000	0.27856	0.570000	0.23653	0.363000	0.24346	0.655000	0.94253	CTT		0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
RBM46	166863	broad.mit.edu	37	4	155720212	155720212	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155720212A>G	ENST00000281722.3	+	4	1133	c.898A>G	c.(898-900)Agt>Ggt	p.S300G	RBM46_ENST00000514866.1_Missense_Mutation_p.S300G|RBM46_ENST00000510397.1_Missense_Mutation_p.S300G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S300G(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGATGGAGCAAGTATTGAGGT	0.363																																					p.S300G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A898G	4						.						92.0	86.0	88.0					4																	155720212		2203	4300	6503	155939662	SO:0001583	missense	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.898A>G	4.37:g.155720212A>G	ENSP00000281722:p.Ser300Gly	Somatic		Capture	Illumina HiSeq	Phase_I	155939662	NM_144979	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	A	5.635	0.301907	0.10678	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.16457	2.34;2.34;2.34	6.17	2.48	0.30137	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.222578	0.53938	N	0.000047	T	0.12008	0.0292	L	0.41492	1.28	0.29375	N	0.863748	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.0;0.004	T	0.17501	-1.0367	10	0.24483	T	0.36	-10.6788	7.1042	0.25354	0.7461:0.1254:0.1285:0.0	.	300;300;300	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	G	300	ENSP00000424500:S300G;ENSP00000281722:S300G;ENSP00000422813:S300G	ENSP00000281722:S300G	S	+	1	0	RBM46	155939662	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	1.398000	0.34554	0.553000	0.29044	0.533000	0.62120	AGT		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
PROM1	8842	broad.mit.edu	37	4	16026840	16026840	+	Missense_Mutation	SNP	C	C	T	rs200352674		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:16026840C>T	ENST00000510224.1	-	6	853	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PROM1_ENST00000543373.1_Missense_Mutation_p.R193Q|PROM1_ENST00000447510.2_Missense_Mutation_p.R202Q|PROM1_ENST00000540805.1_Missense_Mutation_p.R202Q|PROM1_ENST00000539194.1_Missense_Mutation_p.R202Q|PROM1_ENST00000508167.1_Missense_Mutation_p.R193Q|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000505450.1_Missense_Mutation_p.R193Q			O43490	PROM1_HUMAN	prominin 1	202					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.R201Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CAAGAGAGTTCGCAAGTCCTT	0.408																																					p.R193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	4						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3750		0,0,1875	168.0	161.0	163.0		578,578,605,605,578,578,605	2.0	0.0	4		163	1,8195		0,1,4097	yes	missense,missense,missense,missense,missense,missense,missense	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	43,43,43,43,43,43,43	0,1,5972	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	193/857,193/857,202/843,202/835,193/834,193/826,202/866	16026840	1,11945	1875	4098	5973	15635938	SO:0001583	missense	8842	exon5			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.605G>A	4.37:g.16026840C>T	ENSP00000426809:p.Arg202Gln	Somatic		Capture	Illumina HiSeq	Phase_I	15635938	NM_001145847	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693010	0.48202	0.0	1.22E-4	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.7	1.97	0.26223	.	0.523574	0.20998	N	0.081916	T	0.26738	0.0654	L	0.36672	1.1	0.09310	N	1	P;P;P;P;P;P	0.47962	0.882;0.882;0.882;0.882;0.812;0.903	B;B;B;B;B;B	0.40038	0.212;0.212;0.15;0.212;0.141;0.317	T	0.18116	-1.0347	10	0.12103	T	0.63	1.0479	8.7003	0.34320	0.0:0.5824:0.0:0.4176	.	193;202;193;202;193;202	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	Q	202;202;202;193;193;202;193	ENSP00000415481:R202Q;ENSP00000438045:R202Q;ENSP00000443620:R202Q;ENSP00000426090:R193Q;ENSP00000427346:R193Q;ENSP00000426809:R202Q;ENSP00000445526:R193Q	ENSP00000415481:R202Q	R	-	2	0	PROM1	15635938	0.047000	0.20315	0.001000	0.08648	0.699000	0.40488	0.294000	0.19047	0.258000	0.21686	0.563000	0.77884	CGA		0.408	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
PROM1	8842	broad.mit.edu	37	4	16034998	16034998	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:16034998T>G	ENST00000510224.1	-	5	686	c.438A>C	c.(436-438)cgA>cgC	p.R146R	PROM1_ENST00000543373.1_Silent_p.R137R|PROM1_ENST00000447510.2_Silent_p.R146R|PROM1_ENST00000540805.1_Silent_p.R146R|PROM1_ENST00000539194.1_Silent_p.R146R|PROM1_ENST00000508167.1_Silent_p.R137R|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000505450.1_Silent_p.R137R			O43490	PROM1_HUMAN	prominin 1	146					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.R146R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTTCCTTCTGTCGCTGGTGCA	0.428																																					p.R137R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A411C	4						.						95.0	86.0	89.0					4																	16034998		1887	4126	6013	15644096	SO:0001819	synonymous_variant	8842	exon4			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.438A>C	4.37:g.16034998T>G		Somatic		Capture	Illumina HiSeq	Phase_I	15644096	NM_001145847	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
RBM46	166863	broad.mit.edu	37	4	155720468	155720468	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155720468C>A	ENST00000281722.3	+	4	1389	c.1154C>A	c.(1153-1155)tCt>tAt	p.S385Y	RBM46_ENST00000514866.1_Missense_Mutation_p.S385Y|RBM46_ENST00000510397.1_Missense_Mutation_p.S385Y	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	385							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S385Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGTATGTATTCTTTAAAATCC	0.358																																					p.S385Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154A	4						.						66.0	64.0	65.0					4																	155720468		2203	4300	6503	155939918	SO:0001583	missense	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1154C>A	4.37:g.155720468C>A	ENSP00000281722:p.Ser385Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	155939918	NM_144979	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425573	0.43020	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.19938	2.13;2.11;2.27	6.17	6.17	0.99709	.	0.054537	0.85682	D	0.000000	T	0.31979	0.0814	L	0.43152	1.355	0.50632	D	0.99988	D;P;D	0.62365	0.991;0.952;0.981	P;P;P	0.57548	0.823;0.496;0.592	T	0.01639	-1.1306	10	0.02654	T	1	-20.1224	20.8794	0.99867	0.0:1.0:0.0:0.0	.	385;385;385	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	Y	385	ENSP00000424500:S385Y;ENSP00000281722:S385Y;ENSP00000422813:S385Y	ENSP00000281722:S385Y	S	+	2	0	RBM46	155939918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.195000	0.65131	2.941000	0.99782	0.655000	0.94253	TCT		0.358	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
GUCY1A3	2982	broad.mit.edu	37	4	156631770	156631770	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156631770C>T	ENST00000296518.7	+	6	662	c.453C>T	c.(451-453)atC>atT	p.I151I	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Silent_p.I151I|GUCY1A3_ENST00000506455.1_Silent_p.I151I|GUCY1A3_ENST00000455639.2_Silent_p.I151I|GUCY1A3_ENST00000513574.1_Silent_p.I151I|GUCY1A3_ENST00000511108.1_Silent_p.I151I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	151					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.I151I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAAAACATCCTTGGGGTGG	0.418																																					p.I151I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	4						.						67.0	75.0	72.0					4																	156631770		2203	4299	6502	156851220	SO:0001819	synonymous_variant	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.453C>T	4.37:g.156631770C>T		Somatic		Capture	Illumina HiSeq	Phase_I	156851220	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.418	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156632281	156632281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156632281G>T	ENST00000296518.7	+	6	1173	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.E64*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.E322*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	322				Missing (in Ref. 1; CAA47145). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.E322*(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAATTTTGAAGAATACTTTGA	0.388																																					p.E322X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G964T	4						.						67.0	70.0	69.0					4																	156632281		2203	4300	6503	156851731	SO:0001587	stop_gained	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.964G>T	4.37:g.156632281G>T	ENSP00000296518:p.Glu322*	Somatic		Capture	Illumina HiSeq	Phase_I	156851731	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	41	8.546869	0.98857	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	.	.	.	X	322;322;322;322;64;322;322	.	ENSP00000296518:E322X	E	+	1	0	GUCY1A3	156851731	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.122000	0.94380	2.876000	0.98609	0.643000	0.83706	GAA		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156634363	156634363	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156634363C>A	ENST00000296518.7	+	7	1409	c.1200C>A	c.(1198-1200)ctC>ctA	p.L400L	GUCY1A3_ENST00000393832.3_Silent_p.L142L|GUCY1A3_ENST00000511507.1_Silent_p.L400L|GUCY1A3_ENST00000506455.1_Silent_p.L400L|GUCY1A3_ENST00000455639.2_Silent_p.L400L|GUCY1A3_ENST00000513574.1_Silent_p.L400L|GUCY1A3_ENST00000511108.1_Silent_p.L400L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	400					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.L400L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGCTCTACCTCTCAGACATCC	0.483																																					p.L400L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1200A	4						.						94.0	91.0	92.0					4																	156634363		2203	4300	6503	156853813	SO:0001819	synonymous_variant	2982	exon7				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1200C>A	4.37:g.156634363C>A		Somatic		Capture	Illumina HiSeq	Phase_I	156853813	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.483	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156638432	156638432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156638432C>A	ENST00000296518.7	+	8	1903	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S307Y|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S565Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	565	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.S565Y(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGTTATGTCTCCCCATGGA	0.428																																					p.S565Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1694A	4						.						119.0	109.0	112.0					4																	156638432		2203	4300	6503	156857882	SO:0001583	missense	2982	exon8				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1694C>A	4.37:g.156638432C>A	ENSP00000296518:p.Ser565Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156857882	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888494	0.91814	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.88228	0.6380	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	D	0.85588	0.1244	10	0.30854	T	0.27	.	19.6996	0.96048	0.0:1.0:0.0:0.0	.	565;565	B3KU69;Q02108	.;GCYA3_HUMAN	Y	565;565;565;565;307;565;565	ENSP00000424361:S565Y;ENSP00000421493:S565Y;ENSP00000426968:S565Y;ENSP00000412201:S565Y;ENSP00000377418:S307Y;ENSP00000296518:S565Y;ENSP00000426040:S565Y	ENSP00000296518:S565Y	S	+	2	0	GUCY1A3	156857882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.768000	0.85345	2.646000	0.89796	0.655000	0.94253	TCT		0.428	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156651186	156651186	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156651186C>T	ENST00000296518.7	+	10	2085	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.L368F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L626F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L626F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L626F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L626F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	626					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.L626F(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTCAGATTACTCAAAGACTG	0.358																																					p.L626F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1876T	4						.						57.0	60.0	59.0					4																	156651186		2203	4300	6503	156870636	SO:0001583	missense	2982	exon10				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1876C>T	4.37:g.156651186C>T	ENSP00000296518:p.Leu626Phe	Somatic		Capture	Illumina HiSeq	Phase_I	156870636	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651732	0.67472	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	6.14	6.14	0.99180	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.53938	D	0.000050	D	0.96134	0.8740	H	0.98314	4.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.96997	0.9726	10	0.87932	D	0	.	14.3564	0.66740	0.0:0.9247:0.0:0.0753	.	626;626	B3KU69;Q02108	.;GCYA3_HUMAN	F	626;626;626;368;626;626	ENSP00000424361:L626F;ENSP00000421493:L626F;ENSP00000412201:L626F;ENSP00000377418:L368F;ENSP00000296518:L626F;ENSP00000426040:L626F	ENSP00000296518:L626F	L	+	1	0	GUCY1A3	156870636	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	2.690000	0.47001	2.927000	0.99377	0.637000	0.83480	CTC		0.358	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1B3	2983	broad.mit.edu	37	4	156726280	156726280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156726280G>A	ENST00000264424.8	+	13	1817	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.D554N|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.D601N|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.D559N|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.D511N|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.D546N|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.D511N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	579					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.D579N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGAAAATTCAGATCCACAATT	0.398																																					p.D579N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1735A	4						.						90.0	80.0	83.0					4																	156726280		1859	4093	5952	156945730	SO:0001583	missense	2983	exon13			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1735G>A	4.37:g.156726280G>A	ENSP00000264424:p.Asp579Asn	Somatic		Capture	Illumina HiSeq	Phase_I	156945730	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753412	0.89753	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.56	5.56	0.83823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.89030	0.6599	M	0.75615	2.305	0.80722	D	1	D;B;B;D;D	0.89917	0.999;0.118;0.372;1.0;0.999	D;B;B;D;D	0.72625	0.978;0.243;0.212;0.978;0.97	D	0.85756	0.1346	10	0.22109	T	0.4	.	19.5312	0.95230	0.0:0.0:1.0:0.0	.	559;601;554;546;579	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	N	511;601;559;554;579;546;511	ENSP00000427226:D511N;ENSP00000426786:D601N;ENSP00000426319:D559N;ENSP00000422313:D554N;ENSP00000264424:D579N;ENSP00000420842:D546N;ENSP00000425065:D511N	ENSP00000264424:D579N	D	+	1	0	GUCY1B3	156945730	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.669000	0.98622	2.612000	0.88384	0.650000	0.86243	GAT		0.398	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ASIC5	51802	broad.mit.edu	37	4	156773395	156773395	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156773395C>A	ENST00000537611.2	-	4	705	c.659G>T	c.(658-660)aGa>aTa	p.R220I		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	220					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.R220I(1)									ACTCACTTTTCTCTTTGCTTG	0.368																																					p.R220I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659T	4						.						127.0	127.0	127.0					4																	156773395		2203	4300	6503	156992845	SO:0001583	missense	51802	exon4			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.659G>T	4.37:g.156773395C>A	ENSP00000442477:p.Arg220Ile	Somatic		Capture	Illumina HiSeq	Phase_I	156992845	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684611	0.14973	.	.	ENSG00000256394	ENST00000537611	T	0.62639	0.01	4.79	-0.407	0.12385	.	1.786380	0.02971	N	0.144438	T	0.48696	0.1514	L	0.34521	1.04	0.19575	N	0.999964	B	0.06786	0.001	B	0.08055	0.003	T	0.19484	-1.0304	10	0.33940	T	0.23	-12.713	4.1429	0.10201	0.1588:0.3734:0.0:0.4678	.	220	Q9NY37	ACCN5_HUMAN	I	220	ENSP00000442477:R220I	ENSP00000264432:R220I	R	-	2	0	ACCN5	156992845	0.130000	0.22417	0.010000	0.14722	0.268000	0.26511	0.290000	0.18975	0.049000	0.15920	-0.484000	0.04775	AGA		0.368	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
TDO2	6999	broad.mit.edu	37	4	156835558	156835558	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156835558G>T	ENST00000536354.2	+	8	874	c.810G>T	c.(808-810)gaG>gaT	p.E270D		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.E270D(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TATTTGATGAGAAACGTCATG	0.353																																					p.E270D	Colon(57;928 1036 2595 6946 26094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G810T	4						.						109.0	112.0	111.0					4																	156835558		2202	4300	6502	157055008	SO:0001583	missense	6999	exon8				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.810G>T	4.37:g.156835558G>T	ENSP00000444788:p.Glu270Asp	Somatic		Capture	Illumina HiSeq	Phase_I	157055008	NM_005651		Missense_Mutation	SNP	ENST00000536354.2	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713361	0.48517	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.66	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.58354	1.805	0.43499	D	0.995742	B	0.22003	0.063	B	0.22152	0.038	T	0.43589	-0.9382	9	0.27082	T	0.32	-27.8507	9.0191	0.36188	0.3496:0.0:0.6504:0.0	.	270	P48775	T23O_HUMAN	D	270	.	ENSP00000281525:E270D	E	+	3	2	TDO2	157055008	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.176000	0.50863	0.431000	0.26258	-0.119000	0.15052	GAG		0.353	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651	
PDGFC	56034	broad.mit.edu	37	4	157689081	157689081	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:157689081G>T	ENST00000502773.1	-	5	1255	c.765C>A	c.(763-765)ttC>ttA	p.F255L	PDGFC_ENST00000542208.1_Missense_Mutation_p.F100L|PDGFC_ENST00000541126.1_Missense_Mutation_p.F92L|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	255					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.F255L(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGGACACTGAGAAGTTACGAG	0.433																																					p.F255L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C765A	4						.						187.0	173.0	178.0					4																	157689081		2203	4300	6503	157908531	SO:0001583	missense	56034	exon5			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.765C>A	4.37:g.157689081G>T	ENSP00000422464:p.Phe255Leu	Somatic		Capture	Illumina HiSeq	Phase_I	157908531	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270985	0.80469	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.41400	2.57;1.0;1.0	5.35	3.61	0.41365	Platelet-derived growth factor (PDGF) (2);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.63428	1.95	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	D;D	0.76071	0.987;0.982	T	0.59359	-0.7469	10	0.72032	D	0.01	-24.7185	9.3347	0.38043	0.2216:0.0:0.7784:0.0	.	100;255	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	L	255;92;100	ENSP00000422464:F255L;ENSP00000442943:F92L;ENSP00000439728:F100L	ENSP00000422464:F255L	F	-	3	2	PDGFC	157908531	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.230000	0.42999	1.259000	0.44117	0.655000	0.94253	TTC		0.433	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1		
GLRB	2743	broad.mit.edu	37	4	158091876	158091876	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:158091876T>G	ENST00000264428.4	+	10	1760	c.1490T>G	c.(1489-1491)tTa>tGa	p.L497*	GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000509282.1_Nonsense_Mutation_p.L497*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	497					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.L497*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TCTATATATTTATGATAAATC	0.313																																					p.L497X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1490G	4						.						44.0	48.0	47.0					4																	158091876		2202	4297	6499	158311326	SO:0001587	stop_gained	2743	exon10			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1490T>G	4.37:g.158091876T>G	ENSP00000264428:p.Leu497*	Somatic		Capture	Illumina HiSeq	Phase_I	158311326	NM_001166060	A8K3K2|D3DP23|F5GWE1	Nonsense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	T	38	6.924672	0.97940	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4159	0.83738	0.0:0.0:0.0:1.0	.	.	.	.	X	497	.	ENSP00000264428:L497X	L	+	2	0	GLRB	158311326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TTA		0.313	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	
GRIA2	2891	broad.mit.edu	37	4	158262473	158262473	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:158262473C>A	ENST00000264426.9	+	12	2181	c.1902C>A	c.(1900-1902)atC>atA	p.I634I	GRIA2_ENST00000393815.2_Silent_p.I587I|GRIA2_ENST00000296526.7_Silent_p.I634I|GRIA2_ENST00000449365.1_Silent_p.I587I|GRIA2_ENST00000507898.1_Silent_p.I587I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	634					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.I634I(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGATCATAATCTCCTCCTACA	0.433																																					p.I634I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1902A	4						.						200.0	192.0	195.0					4																	158262473		2203	4299	6502	158481923	SO:0001819	synonymous_variant	2891	exon12				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1902C>A	4.37:g.158262473C>A		Somatic		Capture	Illumina HiSeq	Phase_I	158481923	NM_001083619	A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																				0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIA2	2891	broad.mit.edu	37	4	158282178	158282178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:158282178G>A	ENST00000264426.9	+	14	2587	c.2308G>A	c.(2308-2310)Gca>Aca	p.A770T	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	770					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A770T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGTTAACCTCGCAGTACTAAA	0.393																																					p.A770T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2308A	4						.						69.0	70.0	69.0					4																	158282178		2201	4300	6501	158501628	SO:0001583	missense	2891	exon14				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2308G>A	4.37:g.158282178G>A	ENSP00000264426:p.Ala770Thr	Somatic		Capture	Illumina HiSeq	Phase_I	158501628	NM_001083619	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057825	0.76074	.	.	ENSG00000120251	ENST00000264426;ENST00000421983	T	0.47528	0.84	5.82	5.82	0.92795	Ionotropic glutamate receptor (2);	.	.	.	.	T	0.75087	0.3802	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.77943	-0.2398	9	0.66056	D	0.02	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	38;770	B8XY72;P42262	.;GRIA2_HUMAN	T	770;55	ENSP00000264426:A770T	ENSP00000264426:A770T	A	+	1	0	GRIA2	158501628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.748000	0.94277	0.655000	0.94253	GCA		0.393	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
RXFP1	59350	broad.mit.edu	37	4	159520580	159520580	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:159520580C>A	ENST00000307765.5	+	4	640	c.389C>A	c.(388-390)gCa>gAa	p.A130E	RXFP1_ENST00000423548.1_Missense_Mutation_p.A130E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A130E|RXFP1_ENST00000448688.2_Missense_Mutation_p.A49E|RXFP1_ENST00000470033.1_Missense_Mutation_p.A97E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A49E	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	130					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.A130E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATGTGACTGCAATGTAAGTA	0.373																																					p.A130E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389A	4						.						108.0	94.0	98.0					4																	159520580		1863	4100	5963	159740030	SO:0001583	missense	59350	exon4			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.389C>A	4.37:g.159520580C>A	ENSP00000303248:p.Ala130Glu	Somatic		Capture	Illumina HiSeq	Phase_I	159740030	NM_021634	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	6.914	0.538260	0.13188	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000423548;ENST00000448688;ENST00000343542;ENST00000470033	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.02	-1.18	0.09617	Leucine-rich repeat-containing N-terminal (1);	0.813676	0.11404	N	0.567549	T	0.20495	0.0493	N	0.01729	-0.75	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.002;0.002;0.003	T	0.21143	-1.0254	10	0.21014	T	0.42	.	5.5955	0.17325	0.3585:0.0739:0.0:0.5676	.	157;49;130;97;130	B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;Q9HBX9	.;.;.;.;RXFP1_HUMAN	E	49;130;130;49;130;97	ENSP00000423306:A49E;ENSP00000303248:A130E;ENSP00000405841:A130E;ENSP00000414885:A49E;ENSP00000345889:A130E;ENSP00000420712:A97E	ENSP00000303248:A130E	A	+	2	0	RXFP1	159740030	0.030000	0.19436	0.003000	0.11579	0.957000	0.61999	0.512000	0.22755	-0.388000	0.07797	-0.423000	0.05987	GCA		0.373	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
ETFDH	2110	broad.mit.edu	37	4	159606270	159606270	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:159606270C>A	ENST00000511912.1	+	5	837	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ETFDH_ENST00000307738.5_Missense_Mutation_p.H122N	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	169					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.H169N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AATGAATAATCATGGCAATTA	0.348																																					p.H169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C505A	4						.						90.0	91.0	90.0					4																	159606270		2203	4300	6503	159825720	SO:0001583	missense	2110	exon5			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.505C>A	4.37:g.159606270C>A	ENSP00000426638:p.His169Asn	Somatic		Capture	Illumina HiSeq	Phase_I	159825720	NM_004453	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191900	0.78902	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95554	-3.58;-3.74;-3.58	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96324	0.8801	M	0.85710	2.77	0.80722	D	1	B;B	0.24675	0.109;0.109	B;B	0.31812	0.136;0.104	D	0.94418	0.7638	10	0.66056	D	0.02	-32.6273	19.8926	0.96935	0.0:1.0:0.0:0.0	.	122;169	B4E3R9;Q16134	.;ETFD_HUMAN	N	169;4;122	ENSP00000426638:H169N;ENSP00000422735:H4N;ENSP00000303552:H122N	ENSP00000303552:H122N	H	+	1	0	ETFDH	159825720	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.709000	0.92574	0.563000	0.77884	CAT		0.348	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		
PPID	5481	broad.mit.edu	37	4	159636528	159636528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:159636528C>T	ENST00000307720.3	-	6	780	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	225	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)	p.D225N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTTTTTAAGTCTTCTGTTATT	0.244																																					p.D225N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	4						.						7.0	7.0	7.0					4																	159636528		1918	3931	5849	159855978	SO:0001583	missense	5481	exon6				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.673G>A	4.37:g.159636528C>T	ENSP00000303754:p.Asp225Asn	Somatic		Capture	Illumina HiSeq	Phase_I	159855978	NM_005038	B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486025	0.44147	.	.	ENSG00000171497	ENST00000307720	T	0.73681	-0.77	5.41	3.69	0.42338	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.000000	0.45867	D	0.000333	T	0.68686	0.3028	M	0.64260	1.97	0.35048	D	0.760365	B	0.06786	0.001	B	0.11329	0.006	T	0.68595	-0.5367	10	0.36615	T	0.2	-11.5847	9.6704	0.40008	0.0:0.786:0.0:0.214	.	225	Q08752	PPID_HUMAN	N	225	ENSP00000303754:D225N	ENSP00000303754:D225N	D	-	1	0	PPID	159855978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.876000	0.48498	0.766000	0.33244	0.650000	0.86243	GAC		0.244	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038	
RAPGEF2	9693	broad.mit.edu	37	4	160264195	160264195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:160264195G>A	ENST00000264431.4	+	15	2919	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	834	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.E822K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAATAAATACGAAAAACTATT	0.398																																					p.E834K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2500A	4						.						93.0	86.0	88.0					4																	160264195		1894	4122	6016	160483645	SO:0001583	missense	9693	exon15			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2500G>A	4.37:g.160264195G>A	ENSP00000264431:p.Glu834Lys	Somatic		Capture	Illumina HiSeq	Phase_I	160483645	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238376	0.95240	.	.	ENSG00000109756	ENST00000264431	T	0.26518	1.73	5.7	5.7	0.88788	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	N	0.03903	-0.33	0.80722	D	1	D	0.52996	0.957	P	0.49637	0.617	T	0.29397	-1.0013	10	0.62326	D	0.03	.	19.834	0.96648	0.0:0.0:1.0:0.0	.	834	Q9Y4G8	RPGF2_HUMAN	K	834	ENSP00000264431:E834K	ENSP00000264431:E834K	E	+	1	0	RAPGEF2	160483645	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.757000	0.98924	2.685000	0.91497	0.561000	0.74099	GAA		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
FSTL5	56884	broad.mit.edu	37	4	162402249	162402249	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:162402249C>A	ENST00000306100.5	-	13	1967	c.1531G>T	c.(1531-1533)Gac>Tac	p.D511Y	FSTL5_ENST00000536695.1_Missense_Mutation_p.D510Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.D501Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.D510Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	511						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D511Y(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGAACTTGTCTTTGACATTA	0.383																																					p.D510Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1528T	4						.						173.0	164.0	168.0					4																	162402249		2203	4300	6503	162621699	SO:0001583	missense	56884	exon13			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1531G>T	4.37:g.162402249C>A	ENSP00000305334:p.Asp511Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	162621699	NM_001128427	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521626	0.85600	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.98	T	0.57458	-0.7808	10	0.66056	D	0.02	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	501;510;511	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	511;510;501;510	ENSP00000305334:D511Y;ENSP00000368462:D510Y;ENSP00000389270:D501Y;ENSP00000440409:D510Y	ENSP00000305334:D511Y	D	-	1	0	FSTL5	162621699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.255000	0.78338	2.566000	0.86566	0.650000	0.86243	GAC		0.383	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
FSTL5	56884	broad.mit.edu	37	4	162431556	162431556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:162431556C>A	ENST00000306100.5	-	11	1769	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E444*|FSTL5_ENST00000427802.2_Intron|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E444*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	445						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E445*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTACCTTCTTCTCTCCATAAT	0.244																																					p.E444X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1330T	4						.						45.0	46.0	46.0					4																	162431556		2191	4268	6459	162651006	SO:0001587	stop_gained	56884	exon11			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1333G>T	4.37:g.162431556C>A	ENSP00000305334:p.Glu445*	Somatic		Capture	Illumina HiSeq	Phase_I	162651006	NM_001128427	E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	41	9.103902	0.99066	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000536695	.	.	.	5.4	5.4	0.78164	.	0.047279	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.9003	0.79369	0.0:1.0:0.0:0.0	.	.	.	.	X	445;444;444	.	ENSP00000305334:E445X	E	-	1	0	FSTL5	162651006	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.480000	0.60243	2.522000	0.85027	0.557000	0.71058	GAA		0.244	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
FSTL5	56884	broad.mit.edu	37	4	162459420	162459420	+	Missense_Mutation	SNP	G	G	A	rs186644009		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:162459420G>A	ENST00000306100.5	-	10	1646	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	FSTL5_ENST00000536695.1_Missense_Mutation_p.R403C|FSTL5_ENST00000427802.2_Missense_Mutation_p.R403C|FSTL5_ENST00000379164.4_Missense_Mutation_p.R403C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	404	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R404C(2)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTCATAGCGCACATTGCTT	0.398																																					p.R403C												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1207T	4						.						223.0	194.0	204.0					4																	162459420		2203	4300	6503	162678870	SO:0001583	missense	56884	exon10			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1210C>T	4.37:g.162459420G>A	ENSP00000305334:p.Arg404Cys	Somatic		Capture	Illumina HiSeq	Phase_I	162678870	NM_001128427	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948700	0.92660	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097141	0.64402	D	0.000001	T	0.77618	0.4157	L	0.52759	1.655	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.65773	0.938;0.784;0.91	T	0.79035	-0.1968	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:0.0:1.0:0.0	.	403;403;404	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	C	404;403;403;403	ENSP00000305334:R404C;ENSP00000368462:R403C;ENSP00000389270:R403C;ENSP00000440409:R403C	ENSP00000305334:R404C	R	-	1	0	FSTL5	162678870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.358000	0.97109	2.602000	0.87976	0.563000	0.77884	CGC		0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
NPY1R	4886	broad.mit.edu	37	4	164246624	164246624	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:164246624C>T	ENST00000296533.2	-	3	1517	c.986G>A	c.(985-987)aGa>aAa	p.R329K	NPY1R_ENST00000509586.1_Missense_Mutation_p.R86K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	329					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R329K(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGCAAGTCTCTCTGGAAGTT	0.423																																					p.R329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G986A	4						.						114.0	125.0	122.0					4																	164246624		2203	4300	6503	164466074	SO:0001583	missense	4886	exon3				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.986G>A	4.37:g.164246624C>T	ENSP00000354652:p.Arg329Lys	Somatic		Capture	Illumina HiSeq	Phase_I	164466074	NM_000909	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	3.311	-0.140826	0.06669	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.54071	0.59;0.59	5.48	4.45	0.53987	.	0.062095	0.64402	D	0.000015	T	0.23249	0.0562	N	0.02120	-0.675	0.52099	D	0.999943	B	0.06786	0.001	B	0.04013	0.001	T	0.24870	-1.0148	10	0.02654	T	1	.	15.1451	0.72643	0.0:0.9207:0.0:0.0793	.	329	P25929	NPY1R_HUMAN	K	329;86	ENSP00000354652:R329K;ENSP00000427284:R86K	ENSP00000354652:R329K	R	-	2	0	NPY1R	164466074	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.598000	0.61069	2.565000	0.86533	0.655000	0.94253	AGA		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1		
TKTL2	84076	broad.mit.edu	37	4	164393620	164393620	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:164393620C>T	ENST00000280605.3	-	1	1427	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	423						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V423I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGTGGATACCCCACAGTGG	0.478																																					p.V423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267A	4						.						48.0	49.0	49.0					4																	164393620		2203	4300	6503	164613070	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1267G>A	4.37:g.164393620C>T	ENSP00000280605:p.Val423Ile	Somatic		Capture	Illumina HiSeq	Phase_I	164613070	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	6.308	0.424954	0.11987	.	.	ENSG00000151005	ENST00000280605	D	0.90261	-2.64	4.3	0.522	0.17053	Transketolase-like, pyrimidine-binding domain (2);	0.071344	0.56097	D	0.000038	D	0.83617	0.5293	L	0.42744	1.35	0.50171	D	0.999851	B	0.23650	0.089	B	0.29716	0.106	T	0.72401	-0.4305	10	0.52906	T	0.07	-10.1955	2.7468	0.05270	0.148:0.5363:0.1439:0.1719	.	423	Q9H0I9	TKTL2_HUMAN	I	423	ENSP00000280605:V423I	ENSP00000280605:V423I	V	-	1	0	TKTL2	164613070	0.204000	0.23447	0.005000	0.12908	0.038000	0.13279	0.845000	0.27668	0.043000	0.15746	-0.137000	0.14449	GTA		0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
TMA16	55319	broad.mit.edu	37	4	164435252	164435252	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:164435252C>A	ENST00000358572.5	+	4	522	c.181C>A	c.(181-183)Cat>Aat	p.H61N	TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513272.1_Missense_Mutation_p.H61N|TMA16_ENST00000508268.1_Missense_Mutation_p.H61N|TMA16_ENST00000513134.1_Missense_Mutation_p.H61N	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	61						nucleus (GO:0005634)		p.H61N(1)									GTTTCAAAATCATCTTGATCC	0.333																																					p.H61N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	4						.						97.0	89.0	91.0					4																	164435252		1832	4074	5906	164654702	SO:0001583	missense	55319	exon4				CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.181C>A	4.37:g.164435252C>A	ENSP00000351380:p.His61Asn	Somatic		Capture	Illumina HiSeq	Phase_I	164654702	NM_018352	Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	CCDS43278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498239|2.498239	0.44455|0.44455	.|.	.|.	ENSG00000198498|ENSG00000198498	ENST00000358572;ENST00000513272;ENST00000513134;ENST00000508268|ENST00000509657	T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59|.	5.39|5.39	4.53|4.53	0.55603|0.55603	.|.	0.046761|.	0.85682|.	D|.	0.000000|.	T|.	0.67335|.	0.2882|.	L|L	0.52266|0.52266	1.64|1.64	0.47308|0.47308	D|D	0.999388|0.999388	B|.	0.21520|.	0.057|.	B|.	0.20767|.	0.031|.	T|.	0.65573|.	-0.6135|.	10|.	0.28530|.	T|.	0.3|.	-11.6385|-11.6385	15.1544|15.1544	0.72730|0.72730	0.0:0.8576:0.1424:0.0|0.0:0.8576:0.1424:0.0	.|.	61|.	Q96EY4|.	CD043_HUMAN|.	N|X	61|99	ENSP00000351380:H61N;ENSP00000426933:H61N;ENSP00000423901:H61N;ENSP00000423375:H61N|.	ENSP00000351380:H61N|.	H|S	+|+	1|2	0|0	C4orf43|C4orf43	164654702|164654702	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.891000|0.891000	0.51852|0.51852	2.959000|2.959000	0.49153|0.49153	1.359000|1.359000	0.45940|0.45940	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.333	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352	
MARCH1	55016	broad.mit.edu	37	4	164450136	164450136	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:164450136G>T	ENST00000503008.1	-	8	1610	c.634C>A	c.(634-636)Ctt>Att	p.L212I	MARCH1_ENST00000514618.1_Missense_Mutation_p.L468I|RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000274056.7_Missense_Mutation_p.L212I|MARCH1_ENST00000339875.5_Missense_Mutation_p.L195I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	212					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L195I(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGAAGACAAGACCTCCTGTG	0.438																																					p.L212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634A	4						.						71.0	69.0	70.0					4																	164450136		2203	4300	6503	164669586	SO:0001583	missense	55016	exon8			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.634C>A	4.37:g.164450136G>T	ENSP00000427223:p.Leu212Ile	Somatic		Capture	Illumina HiSeq	Phase_I	164669586	NM_001166373	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297749	0.60086	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.35048	1.76;1.76;1.33;1.37	5.58	4.74	0.60224	.	0.000000	0.64402	D	0.000016	T	0.39886	0.1095	L	0.56280	1.765	0.51233	D	0.99991	P;P	0.48911	0.502;0.917	B;P	0.48627	0.134;0.584	T	0.15407	-1.0438	10	0.31617	T	0.26	-20.9066	11.1451	0.48426	0.1421:0.0:0.8579:0.0	.	212;195	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	I	212;212;468;195	ENSP00000274056:L212I;ENSP00000427223:L212I;ENSP00000421322:L468I;ENSP00000345676:L195I	ENSP00000274056:L212I	L	-	1	0	MARCH1	164669586	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	5.722000	0.68485	1.500000	0.48636	0.655000	0.94253	CTT		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
TRIM60	166655	broad.mit.edu	37	4	165961416	165961416	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:165961416C>T	ENST00000512596.1	+	3	408	c.192C>T	c.(190-192)agC>agT	p.S64S	TRIM60_ENST00000508504.1_Silent_p.S64S|TRIM60_ENST00000341062.5_Silent_p.S64S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	64						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S64S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CATACAAGAGCTTCAGGAGGA	0.483																																					p.S64S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	4						.						130.0	123.0	125.0					4																	165961416		2203	4300	6503	166180866	SO:0001819	synonymous_variant	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.192C>T	4.37:g.165961416C>T		Somatic		Capture	Illumina HiSeq	Phase_I	166180866	NM_152620	Q8NA35	Silent	SNP	ENST00000512596.1	37	CCDS3808.1																																																																																				0.483	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
KLHL2	11275	broad.mit.edu	37	4	166232625	166232625	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:166232625C>T	ENST00000226725.6	+	11	1506	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	KLHL2_ENST00000514860.1_Missense_Mutation_p.S420F|KLHL2_ENST00000538127.1_Missense_Mutation_p.S328F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S319F|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.S250F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	416					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.S416F(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGTTTGTCATCTGTGGAAGCA	0.368																																					p.S420F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1259T	4						.						296.0	268.0	278.0					4																	166232625		2203	4300	6503	166452075	SO:0001583	missense	11275	exon11			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1247C>T	4.37:g.166232625C>T	ENSP00000226725:p.Ser416Phe	Somatic		Capture	Illumina HiSeq	Phase_I	166452075	NM_001161521	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299423	0.81136	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.64	5.64	0.86602	Galactose oxidase, beta-propeller (1);	0.109676	0.64402	D	0.000005	D	0.94115	0.8113	H	0.98199	4.17	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.77557	0.99;0.985;0.99	D	0.95879	0.8897	10	0.87932	D	0	.	19.7186	0.96134	0.0:1.0:0.0:0.0	.	420;416;416	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	F	416;420;328;319;250	ENSP00000226725:S416F;ENSP00000424198:S420F;ENSP00000437526:S328F;ENSP00000408974:S319F;ENSP00000424108:S250F	ENSP00000226725:S416F	S	+	2	0	KLHL2	166452075	1.000000	0.71417	0.223000	0.23860	0.115000	0.19883	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	TCT		0.368	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
SLBP	7884	broad.mit.edu	37	4	1701316	1701316	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1701316C>T	ENST00000489418.1	-	5	820	c.454G>A	c.(454-456)Gat>Aat	p.D152N	SLBP_ENST00000318386.4_Missense_Mutation_p.D159N|SLBP_ENST00000488267.1_Missense_Mutation_p.D117N|SLBP_ENST00000429429.2_Missense_Mutation_p.D113N	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	152	RNA-binding.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.D152N(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			ATATAACGATCGTAGGCAATT	0.433																																					p.D152N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	4						.						168.0	155.0	160.0					4																	1701316		2203	4300	6503	1671114	SO:0001583	missense	7884	exon5			Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"""histone binding protein"""	602422	"""stem-loop (histone) binding protein"""			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.454G>A	4.37:g.1701316C>T	ENSP00000417686:p.Asp152Asn	Somatic		Capture	Illumina HiSeq	Phase_I	1671114	NM_006527	B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	CCDS3350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.214683|5.214683	0.95104|0.95104	.|.	.|.	ENSG00000163950|ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.152066|.	0.56097|.	D|.	0.000027|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.991;0.985;0.991;0.997|.	D;P;P;P;P|.	0.70227|.	0.968;0.808;0.576;0.819;0.851|.	T|T	0.76634|0.76634	-0.2887|-0.2887	9|5	0.42905|.	T|.	0.14|.	-12.5927|-12.5927	18.7654|18.7654	0.91869|0.91869	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	117;159;113;132;152|.	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.;.;.;.;SLBP_HUMAN|.	N|Q	113;152;132;159;117|159	.|.	ENSP00000316490:D159N|.	D|R	-|-	1|2	0|0	SLBP|SLBP	1671114|1671114	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.994000|0.994000	0.84299|0.84299	7.142000|7.142000	0.77339|0.77339	2.440000|2.440000	0.82611|0.82611	0.644000|0.644000	0.83932|0.83932	GAT|CGA		0.433	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527	
CPE	1363	broad.mit.edu	37	4	166385551	166385551	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:166385551A>C	ENST00000402744.4	+	2	597	c.317A>C	c.(316-318)gAa>gCa	p.E106A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	106					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.E106A(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGAGCCTGAATTTAAATAC	0.373											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E106A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A317C	4						.						97.0	93.0	94.0					4																	166385551		2203	4300	6503	166605001	SO:0001583	missense	1363	exon2			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.317A>C	4.37:g.166385551A>C	ENSP00000386104:p.Glu106Ala	Somatic	1854	Capture	Illumina HiSeq	Phase_I	166605001	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939126	0.73557	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10668	2.85	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01078	-1.1459	10	0.87932	D	0	-19.2058	15.2255	0.73348	1.0:0.0:0.0:0.0	.	106	P16870	CBPE_HUMAN	A	106;70	ENSP00000386104:E106A	ENSP00000261510:E70A	E	+	2	0	CPE	166605001	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.269000	0.95684	2.009000	0.58944	0.477000	0.44152	GAA		0.373	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
TLL1	7092	broad.mit.edu	37	4	166999172	166999172	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:166999172G>A	ENST00000061240.2	+	18	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	811	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTGGCCACCGAATCAAATTA	0.458																																					p.R811Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2432A	4						.						112.0	97.0	102.0					4																	166999172		2203	4300	6503	167218622	SO:0001583	missense	7092	exon18			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2432G>A	4.37:g.166999172G>A	ENSP00000061240:p.Arg811Gln	Somatic		Capture	Illumina HiSeq	Phase_I	167218622	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389475	0.82902	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17528	2.27;2.27	5.78	5.78	0.91487	CUB (5);	0.000000	0.64402	U	0.000002	T	0.42494	0.1205	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.02713	-1.1120	10	0.28530	T	0.3	.	20.0215	0.97504	0.0:0.0:1.0:0.0	.	834;811	E9PD25;O43897	.;TLL1_HUMAN	Q	811;834	ENSP00000061240:R811Q;ENSP00000426082:R834Q	ENSP00000061240:R811Q	R	+	2	0	TLL1	167218622	1.000000	0.71417	0.965000	0.40720	0.138000	0.21146	9.779000	0.99018	2.735000	0.93741	0.650000	0.86243	CGA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
DDX60	55601	broad.mit.edu	37	4	169204608	169204608	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:169204608T>C	ENST00000393743.3	-	13	2002	c.1711A>G	c.(1711-1713)Aaa>Gaa	p.K571E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	571					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.K571E(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTGCCTTTTTGCTCTTGGGC	0.333																																					p.K571E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1711G	4						.						62.0	64.0	63.0					4																	169204608		2203	4300	6503	169441183	SO:0001583	missense	55601	exon13			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1711A>G	4.37:g.169204608T>C	ENSP00000377344:p.Lys571Glu	Somatic		Capture	Illumina HiSeq	Phase_I	169441183	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357773	0.24598	.	.	ENSG00000137628	ENST00000393743	T	0.20200	2.09	4.29	4.29	0.51040	.	0.200097	0.34531	N	0.003900	T	0.19287	0.0463	L	0.46614	1.455	0.27084	N	0.963022	B	0.16802	0.019	B	0.15870	0.014	T	0.08911	-1.0699	10	0.29301	T	0.29	.	12.8384	0.57786	0.0:0.0:0.0:1.0	.	571	Q8IY21	DDX60_HUMAN	E	571	ENSP00000377344:K571E	ENSP00000377344:K571E	K	-	1	0	DDX60	169441183	0.997000	0.39634	0.647000	0.29507	0.465000	0.32709	2.909000	0.48758	1.916000	0.55485	0.460000	0.39030	AAA		0.333	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60	55601	broad.mit.edu	37	4	169209354	169209354	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:169209354G>T	ENST00000393743.3	-	9	1445	c.1154C>A	c.(1153-1155)gCt>gAt	p.A385D		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	385					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.A385D(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAGTAAAAAGCAATATTCTT	0.249																																					p.A385D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1154A	4						.						56.0	67.0	63.0					4																	169209354		2163	4249	6412	169445929	SO:0001583	missense	55601	exon9			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1154C>A	4.37:g.169209354G>T	ENSP00000377344:p.Ala385Asp	Somatic		Capture	Illumina HiSeq	Phase_I	169445929	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626287	0.66901	.	.	ENSG00000137628	ENST00000393743	T	0.27104	1.69	4.86	4.02	0.46733	.	0.200144	0.34906	N	0.003597	T	0.48114	0.1482	M	0.77103	2.36	0.33457	D	0.5844	D	0.62365	0.991	D	0.63957	0.92	T	0.65800	-0.6080	10	0.72032	D	0.01	.	12.1595	0.54096	0.0852:0.0:0.9148:0.0	.	385	Q8IY21	DDX60_HUMAN	D	385	ENSP00000377344:A385D	ENSP00000377344:A385D	A	-	2	0	DDX60	169445929	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.852000	0.55934	1.189000	0.43028	0.460000	0.39030	GCT		0.249	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
PALLD	23022	broad.mit.edu	37	4	169432682	169432682	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:169432682C>A	ENST00000505667.1	+	2	200	c.27C>A	c.(25-27)tcC>tcA	p.S9S	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'Flank|PALLD_ENST00000261509.6_Silent_p.S9S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	9					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.S9S(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCATGAGTCCTTCTATGACT	0.483									Pancreatic Cancer, Familial Clustering of																												p.S9S	Esophageal Squamous(109;1482 1532 18347 40239 51172)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27A	4						.						68.0	68.0	68.0					4																	169432682		2203	4300	6503	169669257	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.27C>A	4.37:g.169432682C>A		Somatic		Capture	Illumina HiSeq	Phase_I	169669257	NM_016081	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																				0.483	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
SH3RF1	57630	broad.mit.edu	37	4	170057765	170057765	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170057765A>G	ENST00000284637.9	-	5	1113	c.772T>C	c.(772-774)Tcg>Ccg	p.S258P	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	258	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S258P(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTAGCAGCCGAGTTAAACTGC	0.448																																					p.S258P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T772C	4						.						76.0	76.0	76.0					4																	170057765		2203	4300	6503	170294340	SO:0001583	missense	57630	exon5			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.772T>C	4.37:g.170057765A>G	ENSP00000284637:p.Ser258Pro	Somatic		Capture	Illumina HiSeq	Phase_I	170294340	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763779	0.15914	.	.	ENSG00000154447	ENST00000284637	T	0.04809	3.55	5.48	5.48	0.80851	Src homology-3 domain (2);	0.334602	0.32736	N	0.005716	T	0.04543	0.0124	N	0.21373	0.66	0.48511	D	0.999665	B	0.30664	0.289	B	0.33339	0.162	T	0.51687	-0.8674	10	0.37606	T	0.19	-18.6253	10.8292	0.46650	0.8251:0.0:0.0:0.1749	.	258	Q7Z6J0	SH3R1_HUMAN	P	258	ENSP00000284637:S258P	ENSP00000284637:S258P	S	-	1	0	SH3RF1	170294340	1.000000	0.71417	0.997000	0.53966	0.104000	0.19210	3.351000	0.52232	2.214000	0.71695	0.533000	0.62120	TCG		0.448	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
NEK1	4750	broad.mit.edu	37	4	170429410	170429410	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170429410G>A	ENST00000439128.2	-	19	2378	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	NEK1_ENST00000511633.1_Missense_Mutation_p.R564C|NEK1_ENST00000512193.1_Missense_Mutation_p.R511C|NEK1_ENST00000510533.1_Missense_Mutation_p.R536C|NEK1_ENST00000507142.1_Missense_Mutation_p.R608C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	580					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R608C(3)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTTCACCACGAAGTTTGGCT	0.363																																					p.R608C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1822T	4						.						93.0	88.0	89.0					4																	170429410		1834	4097	5931	170665985	SO:0001583	missense	4750	exon21			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1738C>T	4.37:g.170429410G>A	ENSP00000408020:p.Arg580Cys	Somatic		Capture	Illumina HiSeq	Phase_I	170665985	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722317	0.68959	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.76316	-1.01;-0.77;-0.87;-0.8;-0.89	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000004	D	0.86896	0.6043	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.997	D	0.87902	0.2691	10	0.87932	D	0	.	14.3595	0.66761	0.0:0.0:0.852:0.148	.	511;564;608;536;580	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	C	580;564;536;608;511	ENSP00000408020:R580C;ENSP00000423332:R564C;ENSP00000427653:R536C;ENSP00000424757:R608C;ENSP00000424938:R511C	ENSP00000408020:R580C	R	-	1	0	NEK1	170665985	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.898000	0.63238	2.607000	0.88179	0.591000	0.81541	CGT		0.363	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
NEK1	4750	broad.mit.edu	37	4	170459006	170459006	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170459006C>T	ENST00000439128.2	-	18	2259	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	NEK1_ENST00000511633.1_Missense_Mutation_p.R496Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R471Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R496Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R540Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R540Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTCCCGTTTTCGCTGCAGGAA	0.393																																					p.R540Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1619A	4						.						293.0	281.0	285.0					4																	170459006		1863	4095	5958	170695581	SO:0001583	missense	4750	exon19			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1619G>A	4.37:g.170459006C>T	ENSP00000408020:p.Arg540Gln	Somatic		Capture	Illumina HiSeq	Phase_I	170695581	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438333	0.96168	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.72394	-0.65;-0.65;-0.63;-0.64;-0.63	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000043	D	0.84543	0.5495	M	0.71581	2.175	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.84802	0.0785	10	0.72032	D	0.01	.	19.8969	0.96969	0.0:1.0:0.0:0.0	.	471;496;540;496;540	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	540;496;496;540;471	ENSP00000408020:R540Q;ENSP00000423332:R496Q;ENSP00000427653:R496Q;ENSP00000424757:R540Q;ENSP00000424938:R471Q	ENSP00000408020:R540Q	R	-	2	0	NEK1	170695581	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.040000	0.70980	2.799000	0.96334	0.650000	0.86243	CGA		0.393	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
NEK1	4750	broad.mit.edu	37	4	170476898	170476898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170476898G>A	ENST00000439128.2	-	17	2175	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.A512V	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	512					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A512V(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTAGACACCGCCTTCAATCT	0.408																																					p.A512V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1535T	4						.						80.0	79.0	80.0					4																	170476898		1878	4111	5989	170713473	SO:0001583	missense	4750	exon18			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1535C>T	4.37:g.170476898G>A	ENSP00000408020:p.Ala512Val	Somatic		Capture	Illumina HiSeq	Phase_I	170713473	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707856	0.48412	.	.	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.68765	-0.35;-0.31	5.67	3.74	0.42951	.	0.255273	0.27549	N	0.018867	T	0.52693	0.1750	L	0.44542	1.39	0.80722	D	1	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.43637	-0.9379	10	0.36615	T	0.2	.	5.0552	0.14529	0.1904:0.0:0.5553:0.2542	.	512;512;512	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	V	512	ENSP00000408020:A512V;ENSP00000424757:A512V	ENSP00000408020:A512V	A	-	2	0	NEK1	170713473	0.841000	0.29509	0.597000	0.28824	0.987000	0.75469	1.097000	0.30988	0.562000	0.29204	0.591000	0.81541	GCG		0.408	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
NEK1	4750	broad.mit.edu	37	4	170498197	170498197	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170498197G>T	ENST00000439128.2	-	11	1542	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	NEK1_ENST00000511633.1_Missense_Mutation_p.S301Y|NEK1_ENST00000512193.1_Missense_Mutation_p.S301Y|NEK1_ENST00000510533.1_Missense_Mutation_p.S301Y|NEK1_ENST00000507142.1_Missense_Mutation_p.S301Y	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	301					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.S301Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGGCATAACAGAAATCGAGTT	0.328																																					p.S301Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C902A	4						.						93.0	85.0	87.0					4																	170498197		1797	4067	5864	170734772	SO:0001583	missense	4750	exon12			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.902C>A	4.37:g.170498197G>T	ENSP00000408020:p.Ser301Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	170734772	NM_001199397	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.878814|2.878814	0.51801|0.51801	.|.	.|.	ENSG00000137601|ENSG00000137601	ENST00000505119|ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.|T;T;T;T;T	.|0.69685	.|-0.4;-0.41;-0.4;-0.42;-0.4	5.32|5.32	4.42|4.42	0.53409|0.53409	.|Protein kinase-like domain (1);	.|0.256423	.|0.27932	.|N	.|0.017272	T|T	0.64260|0.64260	0.2582|0.2582	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	0.999998|0.999998	.|B;P;P;P;P;P	.|0.47350	.|0.394;0.826;0.826;0.722;0.894;0.734	.|B;P;P;P;P;B	.|0.46362	.|0.317;0.514;0.514;0.514;0.514;0.316	T|T	0.60151|0.60151	-0.7319|-0.7319	5|10	.|0.41790	.|T	.|0.15	.|.	15.4178|15.4178	0.74983|0.74983	0.0:0.1393:0.8607:0.0|0.0:0.1393:0.8607:0.0	.|.	.|301;301;301;301;301;301	.|Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.|.;.;.;.;.;NEK1_HUMAN	L|Y	82|301	.|ENSP00000408020:S301Y;ENSP00000423332:S301Y;ENSP00000427653:S301Y;ENSP00000424757:S301Y;ENSP00000424938:S301Y	.|ENSP00000408020:S301Y	F|S	-|-	3|2	2|0	NEK1|NEK1	170734772|170734772	1.000000|1.000000	0.71417|0.71417	0.685000|0.685000	0.30070|0.30070	0.566000|0.566000	0.35808|0.35808	3.969000|3.969000	0.56816|0.56816	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.328	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
CLCN3	1182	broad.mit.edu	37	4	170610214	170610214	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170610214G>T	ENST00000513761.1	+	5	998	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	CLCN3_ENST00000360642.3_Missense_Mutation_p.D147Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.D147Y|CLCN3_ENST00000504131.2_Missense_Mutation_p.D130Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	147					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.D147Y(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CGGATTAATAGACATTGCTGC	0.418																																					p.D147Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439T	4						.						150.0	147.0	148.0					4																	170610214		2203	4300	6503	170846789	SO:0001583	missense	1182	exon5			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.439G>T	4.37:g.170610214G>T	ENSP00000424603:p.Asp147Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	170846789	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545107	0.65198	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.51	4.65	0.58169	Chloride channel, core (2);	0.044604	0.85682	D	0.000000	D	0.95310	0.8478	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.996;0.996;0.996;0.993;0.997	D	0.95800	0.8832	10	0.87932	D	0	-9.9329	16.1149	0.81301	0.0:0.1341:0.8659:0.0	.	147;130;120;147;147	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Y	147;147;147;147;147;130;120	ENSP00000425160:D147Y;ENSP00000424603:D147Y;ENSP00000261514:D147Y;ENSP00000353857:D147Y;ENSP00000424540:D130Y;ENSP00000425323:D120Y	ENSP00000261514:D147Y	D	+	1	0	CLCN3	170846789	1.000000	0.71417	0.999000	0.59377	0.303000	0.27691	9.869000	0.99810	1.273000	0.44346	0.650000	0.86243	GAC		0.418	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
CLCN3	1182	broad.mit.edu	37	4	170618463	170618463	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170618463T>C	ENST00000513761.1	+	9	1700	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	CLCN3_ENST00000360642.3_Missense_Mutation_p.Y354H|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y381H|CLCN3_ENST00000504131.2_Missense_Mutation_p.Y364H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	381					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.Y381H(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTATGTGGAGTATCATACACC	0.403																																					p.Y381H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1141C	4						.						159.0	155.0	156.0					4																	170618463		2203	4300	6503	170855038	SO:0001583	missense	1182	exon9			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1141T>C	4.37:g.170618463T>C	ENSP00000424603:p.Tyr381His	Somatic		Capture	Illumina HiSeq	Phase_I	170855038	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077197	0.76415	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.84	4.66	0.58398	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.83275	0.992;0.996;0.994;0.992;0.967	D	0.96963	0.9703	10	0.87932	D	0	-8.7675	11.8542	0.52427	0.0:0.0683:0.0:0.9317	.	354;364;354;381;381	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	H	381;381;354;364;354	ENSP00000424603:Y381H;ENSP00000261514:Y381H;ENSP00000353857:Y354H;ENSP00000424540:Y364H;ENSP00000425323:Y354H	ENSP00000261514:Y381H	Y	+	1	0	CLCN3	170855038	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.043000	0.40175	0.455000	0.32223	TAT		0.403	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
C4orf27	54969	broad.mit.edu	37	4	170652862	170652862	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170652862C>A	ENST00000393381.2	-	7	977	c.902G>T	c.(901-903)gGc>gTc	p.G301V		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	301						nucleus (GO:0005634)		p.G301V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CACATGTGAGCCATAGCAAAA	0.448																																					p.G301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G902T	4						.						120.0	104.0	109.0					4																	170652862		2203	4300	6503	170889437	SO:0001583	missense	54969	exon7			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.902G>T	4.37:g.170652862C>A	ENSP00000406598:p.Gly301Val	Somatic		Capture	Illumina HiSeq	Phase_I	170889437	NM_017867		Missense_Mutation	SNP	ENST00000393381.2	37	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751203	0.49257	.	.	ENSG00000056050	ENST00000393381	T	0.55588	0.51	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84747	0.0754	10	0.87932	D	0	-21.5071	18.1799	0.89773	0.0:1.0:0.0:0.0	.	301	Q9NWY4	CD027_HUMAN	V	301	ENSP00000406598:G301V	ENSP00000406598:G301V	G	-	2	0	C4orf27	170889437	1.000000	0.71417	0.900000	0.35374	0.015000	0.08874	5.580000	0.67464	2.377000	0.81083	0.462000	0.41574	GGC		0.448	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867	
GLRA3	8001	broad.mit.edu	37	4	175564972	175564972	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:175564972G>T	ENST00000274093.3	-	10	1862	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	GLRA3_ENST00000340217.5_Missense_Mutation_p.L439I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	454					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.L454I(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCATGCCTAAGAATTTTATAG	0.403																																					p.L439I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1315A	4						.						87.0	96.0	93.0					4																	175564972		2203	4300	6503	175801547	SO:0001583	missense	8001	exon9			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1360C>A	4.37:g.175564972G>T	ENSP00000274093:p.Leu454Ile	Somatic		Capture	Illumina HiSeq	Phase_I	175801547	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167603	0.38315	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.84370	-1.84;-1.84	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.057478	0.64402	D	0.000001	T	0.71409	0.3336	N	0.20574	0.59	0.54753	D	0.999987	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.63932	-0.6525	10	0.02654	T	1	.	11.9178	0.52776	0.0:0.1225:0.7357:0.1418	.	439;454	O75311-2;O75311	.;GLRA3_HUMAN	I	454;439	ENSP00000274093:L454I;ENSP00000345284:L439I	ENSP00000274093:L454I	L	-	1	0	GLRA3	175801547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.777000	0.55364	2.779000	0.95612	0.591000	0.81541	CTT		0.403	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
GLRA3	8001	broad.mit.edu	37	4	175603979	175603979	+	Missense_Mutation	SNP	C	C	G	rs368953565	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:175603979C>G	ENST00000274093.3	-	6	1188	c.686G>C	c.(685-687)cGa>cCa	p.R229P	GLRA3_ENST00000340217.5_Missense_Mutation_p.R229P	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R229P(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGTGCAGTATCGTAAATCTTT	0.373																																					p.R229P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686C	4						.						146.0	139.0	141.0					4																	175603979		2203	4300	6503	175840554	SO:0001583	missense	8001	exon6			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.686G>C	4.37:g.175603979C>G	ENSP00000274093:p.Arg229Pro	Somatic		Capture	Illumina HiSeq	Phase_I	175840554	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669682	0.67814	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78707	-1.2;-1.2	5.62	5.62	0.85841	Neurotransmitter-gated ion-channel ligand-binding (3);	0.054951	0.64402	D	0.000001	D	0.86053	0.5841	M	0.78916	2.43	0.50039	D	0.999847	P;P	0.47762	0.534;0.9	B;P	0.57720	0.306;0.826	D	0.86071	0.1538	10	0.48119	T	0.1	.	15.2743	0.73728	0.1408:0.8592:0.0:0.0	.	229;229	O75311-2;O75311	.;GLRA3_HUMAN	P	229	ENSP00000274093:R229P;ENSP00000345284:R229P	ENSP00000274093:R229P	R	-	2	0	GLRA3	175840554	0.470000	0.25854	1.000000	0.80357	0.919000	0.55068	4.680000	0.61656	2.642000	0.89623	0.655000	0.94253	CGA		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
GLRA3	8001	broad.mit.edu	37	4	175649721	175649721	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:175649721G>T	ENST00000274093.3	-	4	898	c.396C>A	c.(394-396)ttC>ttA	p.F132L	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.F132L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	132					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.F132L(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CATTGGCAAAGAACAAATCAG	0.408																																					p.F132L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C396A	4						.						119.0	125.0	123.0					4																	175649721		2203	4300	6503	175886296	SO:0001583	missense	8001	exon4			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.396C>A	4.37:g.175649721G>T	ENSP00000274093:p.Phe132Leu	Somatic		Capture	Illumina HiSeq	Phase_I	175886296	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799556	0.70567	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.79247	-1.25;-1.25	4.65	4.65	0.58169	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.86502	2.82	0.50632	D	0.999889	D;D	0.63046	0.989;0.992	D;D	0.67900	0.923;0.954	D	0.88379	0.3000	10	0.87932	D	0	.	8.9265	0.35643	0.1677:0.0:0.8323:0.0	.	132;132	O75311-2;O75311	.;GLRA3_HUMAN	L	132	ENSP00000274093:F132L;ENSP00000345284:F132L	ENSP00000274093:F132L	F	-	3	2	GLRA3	175886296	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.590000	0.53979	2.300000	0.77407	0.557000	0.71058	TTC		0.408	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
ADAM29	11086	broad.mit.edu	37	4	175898449	175898449	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:175898449G>A	ENST00000359240.3	+	5	2443	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.K591K|ADAM29_ENST00000404450.4_Silent_p.K591K|ADAM29_ENST00000514159.1_Silent_p.K591K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	591	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K591K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGGGATGAAGGGACCTGATA	0.408																																					p.K591K	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1773A	4						.						204.0	184.0	191.0					4																	175898449		2203	4300	6503	176135024	SO:0001819	synonymous_variant	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1773G>A	4.37:g.175898449G>A		Somatic		Capture	Illumina HiSeq	Phase_I	176135024	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.408	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
GPM6A	2823	broad.mit.edu	37	4	176556136	176556136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:176556136C>A	ENST00000280187.7	-	8	802	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	GPM6A_ENST00000515090.1_Missense_Mutation_p.D246Y|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Missense_Mutation_p.D242Y|GPM6A_ENST00000393658.2_Missense_Mutation_p.D253Y	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	253					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.D253Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GACTTGATGTCTTCATACTTC	0.428																																					p.D253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757T	4						.						116.0	100.0	106.0					4																	176556136		2203	4300	6503	176793130	SO:0001583	missense	2823	exon7				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.757G>T	4.37:g.176556136C>A	ENSP00000280187:p.Asp253Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	176793130	NM_201591	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106237	0.94292	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99915	1.1221	10	0.87932	D	0	-21.0388	20.3627	0.98863	0.0:1.0:0.0:0.0	.	246;242;253	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	Y	253;253;242;246	ENSP00000280187:D253Y;ENSP00000377268:D253Y;ENSP00000421578:D242Y;ENSP00000423984:D246Y	ENSP00000280187:D253Y	D	-	1	0	GPM6A	176793130	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GAC		0.428	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
WDR17	116966	broad.mit.edu	37	4	177046287	177046287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177046287G>T	ENST00000280190.4	+	6	799	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.E191*|WDR17_ENST00000507824.2_Intron|WDR17_ENST00000508596.1_Nonsense_Mutation_p.E191*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	215								p.E215*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTGAGACCAGAATCTCTTGA	0.338																																					p.E215X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G643T	4						.						109.0	107.0	108.0					4																	177046287		2203	4300	6503	177283281	SO:0001587	stop_gained	116966	exon6			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.643G>T	4.37:g.177046287G>T	ENSP00000280190:p.Glu215*	Somatic		Capture	Illumina HiSeq	Phase_I	177283281	NM_170710	E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147520	0.94603	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190	.	.	.	5.61	4.77	0.60923	.	0.174526	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-11.3419	14.6259	0.68621	0.0699:0.0:0.9301:0.0	.	.	.	.	X	191;191;215	.	ENSP00000280190:E215X	E	+	1	0	WDR17	177283281	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	9.167000	0.94773	1.369000	0.46134	0.650000	0.86243	GAA		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
WDR17	116966	broad.mit.edu	37	4	177093625	177093625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177093625G>T	ENST00000280190.4	+	26	3475	c.3319G>T	c.(3319-3321)Gaa>Taa	p.E1107*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.E1083*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.E1082*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.E1068*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1107								p.E1107*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTAAGTCAAGAACCTGAAAA	0.333																																					p.E1107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3319T	4						.						71.0	75.0	74.0					4																	177093625		2203	4300	6503	177330619	SO:0001587	stop_gained	116966	exon26			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3319G>T	4.37:g.177093625G>T	ENSP00000280190:p.Glu1107*	Somatic		Capture	Illumina HiSeq	Phase_I	177330619	NM_170710	E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.597867|10.597867	0.99434|0.99434	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.200617|.	0.42053|.	D|.	0.000776|.	.|T	.|0.80088	.|0.4559	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77544	.|-0.2548	.|3	0.48119|.	T|.	0.1|.	-20.8454|-20.8454	20.178|20.178	0.98191|0.98191	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1068;1083;1107;1083|341	.|.	ENSP00000280190:E1107X|.	E|R	+|+	1|2	0|0	WDR17|WDR17	177330619|177330619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.112000|7.112000	0.77086|0.77086	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
WDR17	116966	broad.mit.edu	37	4	177100691	177100691	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177100691C>T	ENST00000280190.4	+	31	4086	c.3930C>T	c.(3928-3930)ttC>ttT	p.F1310F	WDR17_ENST00000393643.2_Silent_p.F1286F|WDR17_ENST00000507824.2_Silent_p.F1285F|WDR17_ENST00000508596.1_Silent_p.F1271F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1310								p.F1310F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGAATCCATTCTCACCTTTAG	0.403																																					p.F1310F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3930T	4						.						151.0	138.0	142.0					4																	177100691		2203	4300	6503	177337685	SO:0001819	synonymous_variant	116966	exon31			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3930C>T	4.37:g.177100691C>T		Somatic		Capture	Illumina HiSeq	Phase_I	177337685	NM_170710	E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045476	0.19748	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.6	3.88	0.44766	.	.	.	.	.	T	0.61185	0.2327	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57400	-0.7818	4	.	.	.	-19.5796	10.1994	0.43073	0.0:0.7694:0.0:0.2306	.	.	.	.	F	545	.	.	L	+	1	0	WDR17	177337685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	0.848000	0.35191	0.655000	0.94253	CTC		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
SPATA4	132851	broad.mit.edu	37	4	177114732	177114732	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177114732C>A	ENST00000280191.2	-	2	328	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	74						cytoplasm (GO:0005737)		p.D74Y(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		tttgaaaaatctctgatCCGT	0.294																																					p.D74Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220T	4						.						32.0	31.0	32.0					4																	177114732		2202	4299	6501	177351726	SO:0001630	splice_region_variant	132851	exon2			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.219-1G>T	4.37:g.177114732C>A		Somatic		Capture	Illumina HiSeq	Phase_I	177351726	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292626	0.59976	.	.	ENSG00000150628	ENST00000280191	T	0.26373	1.74	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.68887	-0.5290	10	0.87932	D	0	-15.0941	16.2318	0.82347	0.0:1.0:0.0:0.0	.	74	Q8NEY3	SPAT4_HUMAN	Y	74	ENSP00000280191:D74Y	ENSP00000280191:D74Y	D	-	1	0	SPATA4	177351726	0.996000	0.38824	1.000000	0.80357	0.650000	0.38633	4.248000	0.58760	2.640000	0.89533	0.561000	0.74099	GAT		0.294	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	Missense_Mutation
ASB5	140458	broad.mit.edu	37	4	177142387	177142387	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177142387C>T	ENST00000296525.3	-	5	702	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ASB5_ENST00000511879.1_5'Flank|ASB5_ENST00000512254.1_Missense_Mutation_p.E144K	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	197					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.E197K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGAGGAATTTCTTGGTCAACA	0.418																																					p.E197K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	4						.						115.0	106.0	109.0					4																	177142387		2203	4300	6503	177379381	SO:0001583	missense	140458	exon5			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.589G>A	4.37:g.177142387C>T	ENSP00000296525:p.Glu197Lys	Somatic		Capture	Illumina HiSeq	Phase_I	177379381	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404784	0.25378	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.63417	-0.04;0.1	5.91	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.090822	0.85682	D	0.000000	T	0.32041	0.0816	N	0.01679	-0.765	0.24836	N	0.992496	B;B	0.21225	0.012;0.053	B;B	0.24155	0.045;0.051	T	0.14924	-1.0455	10	0.02654	T	1	-13.9224	14.8513	0.70297	0.2619:0.7381:0.0:0.0	.	197;144	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	K	197;144	ENSP00000296525:E197K;ENSP00000422877:E144K	ENSP00000296525:E197K	E	-	1	0	ASB5	177379381	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	5.328000	0.65887	1.494000	0.48533	0.655000	0.94253	GAA		0.418	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
SPCS3	60559	broad.mit.edu	37	4	177249469	177249469	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177249469G>A	ENST00000503362.1	+	5	644	c.531G>A	c.(529-531)acG>acA	p.T177T	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	177					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.T177T(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		ATGAAATAACGAAGAGTTATT	0.343																																					p.T177T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G531A	4						.						56.0	51.0	53.0					4																	177249469		1821	4075	5896	177486463	SO:0001819	synonymous_variant	60559	exon5			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.531G>A	4.37:g.177249469G>A		Somatic		Capture	Illumina HiSeq	Phase_I	177486463	NM_021928	P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	CCDS54823.1																																																																																				0.343	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928	
VEGFC	7424	broad.mit.edu	37	4	177605096	177605096	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177605096C>A	ENST00000280193.2	-	7	1659	c.1244G>T	c.(1243-1245)aGa>aTa	p.R415I	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	415					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.R415I(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CATTTGTGGTCTTTTCCAATA	0.423																																					p.R415I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244T	4						.						137.0	126.0	130.0					4																	177605096		1881	4109	5990	177842090	SO:0001583	missense	7424	exon7			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1244G>T	4.37:g.177605096C>A	ENSP00000280193:p.Arg415Ile	Somatic		Capture	Illumina HiSeq	Phase_I	177842090	NM_005429	B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197164	0.79015	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.78760	-0.2078	9	0.87932	D	0	-20.5376	19.9225	0.97093	0.0:1.0:0.0:0.0	.	415	P49767	VEGFC_HUMAN	I	415	.	ENSP00000280193:R415I	R	-	2	0	VEGFC	177842090	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	5.108000	0.64609	2.780000	0.95670	0.655000	0.94253	AGA		0.423	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
VEGFC	7424	broad.mit.edu	37	4	177608561	177608561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:177608561C>A	ENST00000280193.2	-	6	1340	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	309	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E309*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGTCTAGTTCTTTGTGGGGT	0.507																																					p.E309X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G925T	4						.						151.0	135.0	140.0					4																	177608561		1924	4143	6067	177845555	SO:0001587	stop_gained	7424	exon6			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.925G>T	4.37:g.177608561C>A	ENSP00000280193:p.Glu309*	Somatic		Capture	Illumina HiSeq	Phase_I	177845555	NM_005429	B2R9Q8	Nonsense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	41	8.687841	0.98914	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.87	5.87	0.94306	.	0.114600	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-23.2265	20.2227	0.98327	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000280193:E309X	E	-	1	0	VEGFC	177845555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.850000	0.48294	2.778000	0.95560	0.650000	0.86243	GAA		0.507	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
NEIL3	55247	broad.mit.edu	37	4	178274863	178274863	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:178274863A>G	ENST00000264596.3	+	8	1559	c.1441A>G	c.(1441-1443)Aac>Gac	p.N481D	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	481					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.N481D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAAAAGCTGCAACCCTGGATA	0.343								Base excision repair (BER), DNA glycosylases																													p.N481D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1441G	4						.						64.0	64.0	64.0					4																	178274863		2203	4300	6503	178511857	SO:0001583	missense	55247	exon8			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1441A>G	4.37:g.178274863A>G	ENSP00000264596:p.Asn481Asp	Somatic		Capture	Illumina HiSeq	Phase_I	178511857	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	6.555	0.470644	0.12461	.	.	ENSG00000109674	ENST00000264596	T	0.03982	3.74	5.09	-0.394	0.12434	.	1.073720	0.07027	N	0.827796	T	0.05593	0.0147	M	0.62723	1.935	0.09310	N	1	B	0.24092	0.097	B	0.18871	0.023	T	0.44513	-0.9323	10	0.37606	T	0.19	-0.9797	1.6976	0.02865	0.5611:0.1413:0.1611:0.1365	.	481	Q8TAT5	NEIL3_HUMAN	D	481	ENSP00000264596:N481D	ENSP00000264596:N481D	N	+	1	0	NEIL3	178511857	0.000000	0.05858	0.004000	0.12327	0.607000	0.37147	0.520000	0.22878	0.060000	0.16281	0.455000	0.32223	AAC		0.343	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
TENM3	55714	broad.mit.edu	37	4	183675994	183675994	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:183675994A>G	ENST00000511685.1	+	22	4597	c.4474A>G	c.(4474-4476)Aat>Gat	p.N1492D	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1492D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1492					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1492D(1)									AGATCTAGGGAATATCCGGAT	0.463																																					p.N1492D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4474G	4						.						87.0	86.0	86.0					4																	183675994		1923	4126	6049	183912988	SO:0001583	missense	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4474A>G	4.37:g.183675994A>G	ENSP00000424226:p.Asn1492Asp	Somatic		Capture	Illumina HiSeq	Phase_I	183912988	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761320	0.69763	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16743	2.32;2.32	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.49712	0.1573	M	0.91196	3.185	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60606	-0.7230	9	0.59425	D	0.04	.	15.3157	0.74074	1.0:0.0:0.0:0.0	.	1492	Q9P273	TEN3_HUMAN	D	1492	ENSP00000424226:N1492D;ENSP00000385276:N1492D	ENSP00000385276:N1492D	N	+	1	0	ODZ3	183912988	1.000000	0.71417	0.596000	0.28811	0.637000	0.38172	9.139000	0.94554	2.210000	0.71456	0.460000	0.39030	AAT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
WWC2	80014	broad.mit.edu	37	4	184166599	184166599	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:184166599C>T	ENST00000403733.3	+	6	832	c.633C>T	c.(631-633)agC>agT	p.S211S	WWC2_ENST00000504005.1_Intron|WWC2_ENST00000378925.3_Silent_p.S113S|WWC2_ENST00000448232.2_Silent_p.S211S|WWC2_ENST00000513834.1_Silent_p.S211S	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	211					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S211S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAGGCCAGAGCGGGTATGAAC	0.348																																					p.S211S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	4						.						39.0	39.0	39.0					4																	184166599		2203	4300	6503	184403593	SO:0001819	synonymous_variant	80014	exon6			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.633C>T	4.37:g.184166599C>T		Somatic		Capture	Illumina HiSeq	Phase_I	184403593	NM_024949	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	CCDS34109.2																																																																																				0.348	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
WWC2	80014	broad.mit.edu	37	4	184186252	184186252	+	Silent	SNP	C	C	T	rs148638637	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:184186252C>T	ENST00000403733.3	+	12	2230	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	WWC2_ENST00000504005.1_Silent_p.F359F|WWC2_ENST00000378925.3_Silent_p.F579F|WWC2_ENST00000448232.2_Silent_p.F677F|WWC2_ENST00000513834.1_Silent_p.F628F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	677					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.F677F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ATGAAGCTTTCGTGAAACAGT	0.498													C|||	8	0.00159744	0.0	0.0	5008	,	,		16280	0.005		0.0	False		,,,				2504	0.0031				p.F677F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2031T	4						.	C		1,4405	2.1+/-5.4	0,1,2202	96.0	97.0	96.0		2031	1.2	0.5	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WWC2	NM_024949.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		677/1193	184186252	2,13004	2203	4300	6503	184423246	SO:0001819	synonymous_variant	80014	exon12			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2031C>T	4.37:g.184186252C>T		Somatic		Capture	Illumina HiSeq	Phase_I	184423246	NM_024949	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	CCDS34109.2																																																																																				0.498	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
CDKN2AIP	55602	broad.mit.edu	37	4	184368296	184368296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:184368296G>T	ENST00000504169.1	+	3	1666	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	487	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.E487*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCCACTAAAAGAATTGGCAGA	0.418																																					p.E487X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1459T	4						.						127.0	132.0	130.0					4																	184368296		2203	4300	6503	184605290	SO:0001587	stop_gained	55602	exon3			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1459G>T	4.37:g.184368296G>T	ENSP00000427108:p.Glu487*	Somatic		Capture	Illumina HiSeq	Phase_I	184605290	NM_017632	Q8TBM5|Q9NYH0	Nonsense_Mutation	SNP	ENST00000504169.1	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	G	38	6.891095	0.97912	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.49	5.49	0.81192	.	0.076645	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.2487	19.5755	0.95441	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000427108:E487X	E	+	1	0	CDKN2AIP	184605290	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.899000	0.92544	2.865000	0.98341	0.655000	0.94253	GAA		0.418	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632	
RWDD4	201965	broad.mit.edu	37	4	184562607	184562607	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:184562607G>T	ENST00000326397.5	-	8	821	c.549C>A	c.(547-549)ggC>ggA	p.G183G	RWDD4_ENST00000512740.1_Silent_p.G120G|RWDD4_ENST00000327570.9_Silent_p.G182G|RWDD4_ENST00000510968.1_Silent_p.G88G	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	183								p.G183G(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CATCCTTAGAGCCAGTTTTGC	0.318																																					p.G183G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549A	4						.						76.0	83.0	81.0					4																	184562607		2203	4294	6497	184799601	SO:0001819	synonymous_variant	201965	exon7			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.549C>A	4.37:g.184562607G>T		Somatic		Capture	Illumina HiSeq	Phase_I	184799601	NM_152682	B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	ENST00000326397.5	37	CCDS34111.1																																																																																				0.318	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682	
TRAPPC11	60684	broad.mit.edu	37	4	184628024	184628024	+	Silent	SNP	C	C	T	rs537217298		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:184628024C>T	ENST00000334690.6	+	28	3322	c.3120C>T	c.(3118-3120)acC>acT	p.T1040T	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Silent_p.T1040T|TRAPPC11_ENST00000512476.1_Silent_p.T646T	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1040					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.T1040T(2)									AGAATAAGACCGACTTAGTTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.001				p.T1040T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3120T	4						.						136.0	121.0	126.0					4																	184628024		2203	4300	6503	184865018	SO:0001819	synonymous_variant	60684	exon28				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3120C>T	4.37:g.184628024C>T		Somatic		Capture	Illumina HiSeq	Phase_I	184865018	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																				0.428	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
IRF2	3660	broad.mit.edu	37	4	185339750	185339750	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:185339750C>A	ENST00000393593.3	-	4	507	c.300G>T	c.(298-300)aaG>aaT	p.K100N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	100					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K100N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TATTTCCTTTCTTTATGCTTT	0.403																																					p.K100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	4						.						143.0	137.0	139.0					4																	185339750		2203	4300	6503	185576744	SO:0001583	missense	3660	exon4				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.300G>T	4.37:g.185339750C>A	ENSP00000377218:p.Lys100Asn	Somatic		Capture	Illumina HiSeq	Phase_I	185576744	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	0.566	-0.843346	0.02671	.	.	ENSG00000168310	ENST00000393593;ENST00000502750;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D;D	0.97772	-4.53;-1.6;-4.53;-4.53;-4.53	4.85	2.21	0.28008	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.088042	0.85682	D	0.000000	D	0.95595	0.8568	N	0.12746	0.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91171	0.4968	10	0.15499	T	0.54	.	8.4306	0.32755	0.0:0.6984:0.0:0.3016	.	100	P14316	IRF2_HUMAN	N	100;12;100;100;100;100	ENSP00000377218:K100N;ENSP00000423074:K12N;ENSP00000427204:K100N;ENSP00000424552:K100N;ENSP00000422860:K100N	ENSP00000377218:K100N	K	-	3	2	IRF2	185576744	0.998000	0.40836	1.000000	0.80357	0.620000	0.37586	0.596000	0.24044	0.356000	0.24157	-0.254000	0.11334	AAG		0.403	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
IRF2	3660	broad.mit.edu	37	4	185340688	185340688	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:185340688G>A	ENST00000393593.3	-	3	329	c.122C>T	c.(121-123)gCg>gTg	p.A41V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	41					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGTCTAGCCGCATGCATCCA	0.423																																					p.A41V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122T	4						.						108.0	109.0	109.0					4																	185340688		2203	4300	6503	185577682	SO:0001583	missense	3660	exon3				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.122C>T	4.37:g.185340688G>A	ENSP00000377218:p.Ala41Val	Somatic		Capture	Illumina HiSeq	Phase_I	185577682	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135806	0.94517	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	4.99	4.99	0.66335	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99785	1.1029	10	0.87932	D	0	-9.6502	18.4742	0.90786	0.0:0.0:1.0:0.0	.	41	P14316	IRF2_HUMAN	V	41	ENSP00000377218:A41V;ENSP00000427204:A41V;ENSP00000424552:A41V;ENSP00000422860:A41V	ENSP00000377218:A41V	A	-	2	0	IRF2	185577682	1.000000	0.71417	0.957000	0.39632	0.942000	0.58702	9.645000	0.98471	2.581000	0.87130	0.655000	0.94253	GCG		0.423	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
CASP3	836	broad.mit.edu	37	4	185553461	185553461	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:185553461C>A	ENST00000308394.4	-	5	530	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	CASP3_ENST00000393588.4_Missense_Mutation_p.D90Y|CASP3_ENST00000517513.1_Missense_Mutation_p.D90Y|CASP3_ENST00000523916.1_Missense_Mutation_p.D90Y|CASP3_ENST00000393585.2_Missense_Mutation_p.D90Y	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	90					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)	p.D90Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CGTGTAAGATCATTTTTATTC	0.358																																					p.D90Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G268T	4						.						130.0	122.0	125.0					4																	185553461		2203	4300	6503	185790455	SO:0001583	missense	836	exon4			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.268G>T	4.37:g.185553461C>A	ENSP00000311032:p.Asp90Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	185790455	NM_032991	A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577413	0.45902	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000438467;ENST00000517513;ENST00000393588;ENST00000447121	T;T;T;T;T;T	0.52526	0.66;3.75;0.66;3.75;3.75;3.75	6.17	4.42	0.53409	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.083403	0.85682	D	0.000000	T	0.74574	0.3734	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.81066	-0.1101	10	0.87932	D	0	.	11.8046	0.52147	0.1227:0.8136:0.0:0.0637	.	90;90	P42574;A8MVM1	CASP3_HUMAN;.	Y	90;90;90;99;90;90;90	ENSP00000311032:D90Y;ENSP00000377210:D90Y;ENSP00000428929:D90Y;ENSP00000428372:D90Y;ENSP00000377213:D90Y;ENSP00000407142:D90Y	ENSP00000311032:D90Y	D	-	1	0	CASP3	185790455	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	4.175000	0.58263	1.590000	0.49995	0.655000	0.94253	GAT		0.358	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	
PRIMPOL	201973	broad.mit.edu	37	4	185599466	185599466	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:185599466G>T	ENST00000314970.6	+	8	1358	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.D309Y|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.D309Y|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.D180Y	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	309					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.D309Y(1)									GGTTACTGAAGATAACAAATT	0.323																																					p.D309Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925T	4						.						48.0	50.0	49.0					4																	185599466		2201	4294	6495	185836460	SO:0001583	missense	201973	exon8			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.925G>T	4.37:g.185599466G>T	ENSP00000313816:p.Asp309Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	185836460	NM_152683	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	CCDS3837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.352302|1.352302	0.24512|0.24512	.|.	.|.	ENSG00000164306|ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834|ENST00000508001	T;T;T;T|.	0.34275|.	1.38;1.37;1.38;1.38|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.102446|.	0.64402|.	D|.	0.000003|.	T|T	0.78717|0.78717	0.4327|0.4327	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.56563|.	0.786;0.801|.	T|T	0.77773|0.77773	-0.2462|-0.2462	10|6	0.72032|0.52906	D|T	0.01|0.07	-18.6248|-18.6248	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	309;309|.	Q96LW4;D6RDM1|.	CC111_HUMAN;.|.	Y|N	309;180;309;309|12	ENSP00000313816:D309Y;ENSP00000421913:D180Y;ENSP00000420860:D309Y;ENSP00000425316:D309Y|.	ENSP00000313816:D309Y|ENSP00000424639:K12N	D|K	+|+	1|3	0|2	CCDC111|CCDC111	185836460|185836460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	8.532000|8.532000	0.90613|0.90613	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.323	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683	
CENPU	79682	broad.mit.edu	37	4	185623534	185623534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:185623534C>A	ENST00000281453.5	-	9	929	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	MLF1IP_ENST00000541971.1_Nonsense_Mutation_p.E287*|MLF1IP_ENST00000506535.1_5'UTR	NM_024629.3	NP_078905.2												p.E287*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		ATGAATTGTTCTTTAACATTA	0.343																																					p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	4						.						127.0	131.0	129.0					4																	185623534		2203	4300	6503	185860528	SO:0001587	stop_gained	79682	exon9																														ENST00000281453.5:c.859G>T	4.37:g.185623534C>A	ENSP00000281453:p.Glu287*	Somatic		Capture	Illumina HiSeq	Phase_I	185860528	NM_024629		Nonsense_Mutation	SNP	ENST00000281453.5	37	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960149	0.53400	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971	.	.	.	4.41	3.57	0.40892	.	0.288414	0.30011	N	0.010640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.1776	8.3819	0.32477	0.0:0.8951:0.0:0.1049	.	.	.	.	X	287	.	ENSP00000281453:E287X	E	-	1	0	MLF1IP	185860528	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.248000	0.43160	1.462000	0.47948	0.557000	0.71058	GAA		0.343	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		
SLC25A4	291	broad.mit.edu	37	4	186066971	186066971	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186066971T>G	ENST00000281456.6	+	3	789	c.657T>G	c.(655-657)agT>agG	p.S219R		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	219					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)	p.S219R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTGCCCAGAGTGTGACGGCAG	0.562																																					p.S219R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T657G	4						.						111.0	87.0	95.0					4																	186066971		2203	4300	6503	186303965	SO:0001583	missense	291	exon3			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.657T>G	4.37:g.186066971T>G	ENSP00000281456:p.Ser219Arg	Somatic		Capture	Illumina HiSeq	Phase_I	186303965	NM_001151	D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134420	0.37630	.	.	ENSG00000151729	ENST00000281456	T	0.79352	-1.26	5.54	-11.1	0.00147	Mitochondrial carrier domain (2);	0.350700	0.33854	N	0.004495	T	0.73837	0.3638	M	0.83118	2.625	0.31556	N	0.658165	B	0.26002	0.139	B	0.29942	0.109	T	0.54754	-0.8246	10	0.46703	T	0.11	-22.2567	16.7406	0.85458	0.0654:0.2086:0.0:0.7259	.	219	P12235	ADT1_HUMAN	R	219	ENSP00000281456:S219R	ENSP00000281456:S219R	S	+	3	2	SLC25A4	186303965	0.000000	0.05858	0.004000	0.12327	0.744000	0.42396	-2.890000	0.00710	-2.330000	0.00633	-0.977000	0.02584	AGT		0.562	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151	
CFAP97	57587	broad.mit.edu	37	4	186112298	186112298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186112298T>C	ENST00000458385.2	-	2	172	c.53A>G	c.(52-54)gAc>gGc	p.D18G	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D18G|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D18G	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		18								p.D18G(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AAAGTCACTGTCAAAGAAAGA	0.308																																					p.D18G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A53G	4						.						42.0	39.0	40.0					4																	186112298		1827	4080	5907	186349292	SO:0001583	missense	57587	exon2																														ENST00000458385.2:c.53A>G	4.37:g.186112298T>C	ENSP00000409964:p.Asp18Gly	Somatic		Capture	Illumina HiSeq	Phase_I	186349292	NM_020827	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874911	0.51695	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.75170	0.3813	M	0.69823	2.125	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.78132	-0.2323	10	0.72032	D	0.01	-13.1165	15.8276	0.78727	0.0:0.0:0.0:1.0	.	18;18	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	G	18	ENSP00000409964:D18G;ENSP00000423312:D18G;ENSP00000296775:D18G;ENSP00000420832:D18G	ENSP00000296775:D18G	D	-	2	0	KIAA1430	186349292	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	6.445000	0.73456	2.122000	0.65172	0.533000	0.62120	GAC		0.308	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2		
SNX25	83891	broad.mit.edu	37	4	186180031	186180031	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186180031C>T	ENST00000504273.1	+	3	346	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	SNX25_ENST00000264694.8_Silent_p.L18L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	18	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L18L(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGATTACATTCTGTCCTGGTA	0.423																																					p.L18L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C52T	4						.						128.0	120.0	123.0					4																	186180031		2203	4300	6503	186417025	SO:0001819	synonymous_variant	83891	exon3			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.52C>T	4.37:g.186180031C>T		Somatic		Capture	Illumina HiSeq	Phase_I	186417025	NM_031953	Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	CCDS34116.1																																																																																				0.423	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
LRP2BP	55805	broad.mit.edu	37	4	186298110	186298110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186298110C>A	ENST00000328559.7	-	2	980	c.169G>T	c.(169-171)Gga>Tga	p.G57*	LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.G57*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.G31*|LRP2BP_ENST00000362004.3_Nonsense_Mutation_p.G59*|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	57						cytoplasm (GO:0005737)		p.G57*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AGAGTGTCTCCTTTCAGTATT	0.358																																					p.G57X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G169T	4						.						122.0	119.0	120.0					4																	186298110		2203	4300	6503	186535104	SO:0001587	stop_gained	55805	exon2			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.169G>T	4.37:g.186298110C>A	ENSP00000332681:p.Gly57*	Somatic		Capture	Illumina HiSeq	Phase_I	186535104	NM_018409	A6NJR7|A7E219|B3KX83|Q9NSN6	Nonsense_Mutation	SNP	ENST00000328559.7	37	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	50	17.077823	0.99878	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	.	.	.	5.79	5.79	0.91817	.	0.056067	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.0091	19.6358	0.95733	0.0:1.0:0.0:0.0	.	.	.	.	X	59;57;31;57;57	.	ENSP00000332681:G57X	G	-	1	0	LRP2BP	186535104	0.999000	0.42202	0.976000	0.42696	0.054000	0.15201	5.287000	0.65645	2.746000	0.94184	0.561000	0.74099	GGA		0.358	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409	
CCDC110	256309	broad.mit.edu	37	4	186379789	186379789	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186379789G>T	ENST00000307588.3	-	6	2027	c.1952C>A	c.(1951-1953)tCt>tAt	p.S651Y	CCDC110_ENST00000510617.1_Missense_Mutation_p.S651Y|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.S614Y	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	651						nucleus (GO:0005634)		p.S651Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCAGCAGTAGATTCTTGTAA	0.323																																					p.S651Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1952A	4						.						87.0	93.0	91.0					4																	186379789		2202	4295	6497	186616783	SO:0001583	missense	256309	exon6			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1952C>A	4.37:g.186379789G>T	ENSP00000306776:p.Ser651Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	186616783	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	0.124	-1.122043	0.01785	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.35048	1.33;1.33;1.33	5.54	3.77	0.43336	.	0.500539	0.18618	N	0.135963	T	0.40670	0.1126	L	0.60455	1.87	0.09310	N	1	D;D;D	0.56035	0.974;0.974;0.974	P;P;P	0.54312	0.748;0.748;0.748	T	0.26950	-1.0088	10	0.02654	T	1	-1.1126	10.5552	0.45112	0.0:0.2703:0.5899:0.1399	.	651;614;651	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Y	614;651;651	ENSP00000377172:S614Y;ENSP00000306776:S651Y;ENSP00000427246:S651Y	ENSP00000306776:S651Y	S	-	2	0	CCDC110	186616783	0.448000	0.25681	0.892000	0.35008	0.685000	0.39939	1.430000	0.34914	0.768000	0.33290	0.650000	0.86243	TCT		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
CCDC110	256309	broad.mit.edu	37	4	186380033	186380033	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186380033C>A	ENST00000307588.3	-	6	1783	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	CCDC110_ENST00000510617.1_Nonsense_Mutation_p.E570*|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.E533*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	570						nucleus (GO:0005634)		p.E570*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCTTCCATTTCTATACTCATT	0.308																																					p.E570X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1708T	4						.						99.0	96.0	97.0					4																	186380033		2201	4292	6493	186617027	SO:0001587	stop_gained	256309	exon6			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1708G>T	4.37:g.186380033C>A	ENSP00000306776:p.Glu570*	Somatic		Capture	Illumina HiSeq	Phase_I	186617027	NM_152775	Q86YI9|Q8N7W0	Nonsense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	37	6.021499	0.97211	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.85	5.85	0.93711	.	0.125552	0.36740	N	0.002436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.0737	12.5939	0.56456	0.0:0.9218:0.0:0.0782	.	.	.	.	X	533;570;570	.	ENSP00000306776:E570X	E	-	1	0	CCDC110	186617027	0.897000	0.30589	0.992000	0.48379	0.832000	0.47134	1.950000	0.40323	2.755000	0.94549	0.655000	0.94253	GAA		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
CCDC110	256309	broad.mit.edu	37	4	186380551	186380551	+	Missense_Mutation	SNP	C	C	T	rs565208809		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:186380551C>T	ENST00000307588.3	-	6	1265	c.1190G>A	c.(1189-1191)aGa>aAa	p.R397K	CCDC110_ENST00000510617.1_Missense_Mutation_p.R397K|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.R360K	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	397						nucleus (GO:0005634)		p.R397K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAATGGTTGTCTTTCTTTGTC	0.333																																					p.R397K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190A	4						.						151.0	150.0	151.0					4																	186380551		2203	4299	6502	186617545	SO:0001583	missense	256309	exon6			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1190G>A	4.37:g.186380551C>T	ENSP00000306776:p.Arg397Lys	Somatic		Capture	Illumina HiSeq	Phase_I	186617545	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.602823	0.00849	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05649	3.42;3.41;3.42	5.81	-6.74	0.01743	.	1.721050	0.02888	N	0.133798	T	0.02888	0.0086	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40627	-0.9553	10	0.05833	T	0.94	4.8588	0.809	0.01089	0.4202:0.1302:0.2088:0.2408	.	397;360;397	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	K	360;397;397	ENSP00000377172:R360K;ENSP00000306776:R397K;ENSP00000427246:R397K	ENSP00000306776:R397K	R	-	2	0	CCDC110	186617545	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.367000	0.07553	-1.269000	0.02436	-0.181000	0.13052	AGA		0.333	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
FAM149A	25854	broad.mit.edu	37	4	187084771	187084771	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187084771C>A	ENST00000356371.5	+	10	1900	c.1900C>A	c.(1900-1902)Ctt>Att	p.L634I	FAM149A_ENST00000503432.1_Missense_Mutation_p.L343I|FAM149A_ENST00000389354.5_Missense_Mutation_p.L343I|FAM149A_ENST00000227065.4_Missense_Mutation_p.L343I|FAM149A_ENST00000502970.1_Missense_Mutation_p.L343I|FAM149A_ENST00000514153.1_Missense_Mutation_p.L343I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	634								p.L343I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGACGAAGTTCTTCGGGGAAC	0.448																																					p.L343I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1027A	4						.						50.0	55.0	53.0					4																	187084771		2203	4300	6503	187321765	SO:0001583	missense	25854	exon9			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1900C>A	4.37:g.187084771C>A	ENSP00000348732:p.Leu634Ile	Somatic		Capture	Illumina HiSeq	Phase_I	187321765	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	16.51|16.51|16.51	3.144386|3.144386|3.144386	0.57044|0.57044|0.57044	.|.|.	.|.|.	ENSG00000109794|ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354|ENST00000512271	.|T;T;T;T;T;T|.	.|0.15834|.	.|2.54;2.39;2.54;2.54;2.54;2.54|.	5.19|5.19|5.19	5.19|5.19|5.19	0.71726|0.71726|0.71726	.|.|.	.|0.000000|.	.|0.56097|.	.|D|.	.|0.000040|.	T|T|T	0.65123|0.65123|0.65123	0.2661|0.2661|0.2661	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.41608|0.41608|0.41608	D|D|D	0.988898|0.988898|0.988898	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.83275|.	.|0.996;0.996|.	T|T|T	0.64723|0.64723|0.64723	-0.6340|-0.6340|-0.6340	5|10|5	.|0.40728|.	.|T|.	.|0.16|.	-19.8376|-19.8376|-19.8376	11.8158|11.8158|11.8158	0.52209|0.52209|0.52209	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.|.	.|634;634|.	.|A5PLN7-3;A5PLN7|.	.|.;F149A_HUMAN|.	L|I|Y	20|343;634;343;343;343;343|20	.|ENSP00000426835:L343I;ENSP00000348732:L634I;ENSP00000227065:L343I;ENSP00000427155:L343I;ENSP00000424380:L343I;ENSP00000374005:L343I|.	.|ENSP00000227065:L343I|.	F|L|S	+|+|+	3|1|2	2|0|0	FAM149A|FAM149A|FAM149A	187321765|187321765|187321765	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.989000|0.989000|0.989000	0.46669|0.46669|0.46669	0.643000|0.643000|0.643000	0.38383|0.38383|0.38383	2.691000|2.691000|2.691000	0.47010|0.47010|0.47010	2.429000|2.429000|2.429000	0.82318|0.82318|0.82318	0.298000|0.298000|0.298000	0.19748|0.19748|0.19748	TTC|CTT|TCT		0.448	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
FAT1	2195	broad.mit.edu	37	4	187525066	187525066	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187525066C>A	ENST00000441802.2	-	19	10823	c.10614G>T	c.(10612-10614)gaG>gaT	p.E3538D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3538	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E3538D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATAGATGCTCTCCTCAATTA	0.433										HNSCC(5;0.00058)																											p.E3538D	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10614T	4						.						77.0	78.0	77.0					4																	187525066		1896	4122	6018	187762060	SO:0001583	missense	2195	exon19			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10614G>T	4.37:g.187525066C>A	ENSP00000406229:p.Glu3538Asp	Somatic		Capture	Illumina HiSeq	Phase_I	187762060	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010052	0.35415	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01745	4.66	5.06	0.21	0.15231	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	M	0.70787	2.145	0.58432	D	0.999996	D	0.76494	0.999	D	0.63033	0.91	T	0.29971	-0.9994	10	0.33940	T	0.23	.	9.4833	0.38913	0.0:0.4002:0.0:0.5998	.	3538	Q14517	FAT1_HUMAN	D	3538;3540	ENSP00000406229:E3538D	ENSP00000260147:E3540D	E	-	3	2	FAT1	187762060	0.841000	0.29509	0.994000	0.49952	0.561000	0.35649	-0.034000	0.12225	0.042000	0.15717	-0.253000	0.11424	GAG		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187540596	187540596	+	Missense_Mutation	SNP	C	C	T	rs374821045		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187540596C>T	ENST00000441802.2	-	10	7353	c.7144G>A	c.(7144-7146)Gac>Aac	p.D2382N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2382	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2382N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATTGAGGTCGGTAACGTCC	0.502										HNSCC(5;0.00058)																											p.D2382N	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7144A	4						.						59.0	60.0	60.0					4																	187540596		2082	4216	6298	187777590	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7144G>A	4.37:g.187540596C>T	ENSP00000406229:p.Asp2382Asn	Somatic		Capture	Illumina HiSeq	Phase_I	187777590	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437325	0.83885	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.84298	-1.83	5.14	5.14	0.70334	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92981	0.6406	10	0.42905	T	0.14	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	2382	Q14517	FAT1_HUMAN	N	2382;2384	ENSP00000406229:D2382N	ENSP00000260147:D2384N	D	-	1	0	FAT1	187777590	1.000000	0.71417	0.976000	0.42696	0.621000	0.37620	5.891000	0.69782	2.834000	0.97654	0.650000	0.86243	GAC		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187542151	187542151	+	Silent	SNP	C	C	T	rs375007936		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187542151C>T	ENST00000441802.2	-	10	5798	c.5589G>A	c.(5587-5589)gcG>gcA	p.A1863A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1863	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1863A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTTACATTCGCTGCATACT	0.393										HNSCC(5;0.00058)																											p.A1863A	Colon(197;1040 2055 4143 4984 49344)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5589A	4						.	C		0,3862		0,0,1931	67.0	67.0	67.0		5589	-7.0	0.9	4		67	1,8255		0,1,4127	no	coding-synonymous	FAT1	NM_005245.3		0,1,6058	TT,TC,CC		0.0121,0.0,0.0083		1863/4589	187542151	1,12117	1931	4128	6059	187779145	SO:0001819	synonymous_variant	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5589G>A	4.37:g.187542151C>T		Somatic		Capture	Illumina HiSeq	Phase_I	187779145	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187629028	187629028	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187629028T>G	ENST00000441802.2	-	2	2163	c.1954A>C	c.(1954-1956)Aat>Cat	p.N652H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	652	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N652H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGCAAAATTTTCTCCATCT	0.458										HNSCC(5;0.00058)																											p.N652H	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1954C	4						.						74.0	71.0	72.0					4																	187629028		1898	4125	6023	187866022	SO:0001583	missense	2195	exon2			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1954A>C	4.37:g.187629028T>G	ENSP00000406229:p.Asn652His	Somatic		Capture	Illumina HiSeq	Phase_I	187866022	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	4.954	0.177243	0.09443	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.38560	1.13	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.145201	0.64402	D	0.000012	T	0.21427	0.0516	N	0.03253	-0.375	0.45662	D	0.998582	B	0.11235	0.004	B	0.11329	0.006	T	0.11792	-1.0573	10	0.12766	T	0.61	.	15.5918	0.76537	0.0:0.0:0.0:1.0	.	652	Q14517	FAT1_HUMAN	H	652	ENSP00000406229:N652H	ENSP00000260147:N652H	N	-	1	0	FAT1	187866022	1.000000	0.71417	0.880000	0.34516	0.498000	0.33706	4.260000	0.58835	2.263000	0.75096	0.533000	0.62120	AAT		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
ZFP42	132625	broad.mit.edu	37	4	188923979	188923979	+	Missense_Mutation	SNP	G	G	T	rs12641972		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:188923979G>T	ENST00000326866.4	+	4	426	c.18G>T	c.(16-18)aaG>aaT	p.K6N	ZFP42_ENST00000509524.1_Missense_Mutation_p.K6N	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	6					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K6N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGCAACTGAAGAAACGGGCAA	0.537																																					p.K6N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18T	4						.						68.0	74.0	72.0					4																	188923979		2203	4300	6503	189160973	SO:0001583	missense	132625	exon4			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.18G>T	4.37:g.188923979G>T	ENSP00000317686:p.Lys6Asn	Somatic		Capture	Illumina HiSeq	Phase_I	189160973	NM_174900	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448526	0.26074	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.13778	2.56;2.56	4.18	-1.01	0.10169	.	0.260572	0.32161	N	0.006497	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.20638	-1.0269	10	0.87932	D	0	.	2.5891	0.04838	0.1779:0.4199:0.2597:0.1425	rs12641972;rs12641972	6	Q96MM3	ZFP42_HUMAN	N	6	ENSP00000317686:K6N;ENSP00000424662:K6N	ENSP00000317686:K6N	K	+	3	2	ZFP42	189160973	0.733000	0.28132	0.021000	0.16686	0.302000	0.27658	0.623000	0.24447	-0.247000	0.09597	0.563000	0.77884	AAG		0.537	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
TRIML1	339976	broad.mit.edu	37	4	189061066	189061066	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:189061066G>T	ENST00000332517.3	+	1	494	c.354G>T	c.(352-354)caG>caT	p.Q118H	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	118					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q118H(1)		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)		TCGTAGCCCAGAGCCATGGTG	0.602																																					p.Q118H	Melanoma(31;213 1036 16579 23968 32372)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G354T	4						.						50.0	47.0	48.0					4																	189061066		2203	4300	6503	189298060	SO:0001583	missense	339976	exon1			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.354G>T	4.37:g.189061066G>T	ENSP00000327738:p.Gln118His	Somatic		Capture	Illumina HiSeq	Phase_I	189298060	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775926	0.31411	.	.	ENSG00000184108	ENST00000332517	T	0.63913	-0.07	5.06	-5.2	0.02823	.	0.709798	0.12799	N	0.438182	T	0.40015	0.1100	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18967	-1.0320	10	0.54805	T	0.06	-5.3655	4.3288	0.11053	0.3368:0.0:0.3959:0.2673	.	118	Q8N9V2	TRIML_HUMAN	H	118	ENSP00000327738:Q118H	ENSP00000327738:Q118H	Q	+	3	2	TRIML1	189298060	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.069000	0.11542	-0.880000	0.03997	0.561000	0.74099	CAG		0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
ZNF595	152687	broad.mit.edu	37	4	86287	86287	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:86287G>T	ENST00000339368.6	+	0	1096							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGTCCACAAGCCTGAATGAA	0.383																																					p.A298S												.	.	0			c.G892T	4						.						37.0	39.0	38.0					4																	86287		2095	4259	6354	76287	SO:0001624	3_prime_UTR_variant	152687	exon4			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1093G>T	4.37:g.86287G>T		Somatic		Capture	Illumina HiSeq	Phase_I	76287	NM_182524		Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.383	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
ZNF595	152687	broad.mit.edu	37	4	87061	87061	+	3'UTR	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:87061A>T	ENST00000339368.6	+	0	1870							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAACATAAGAAAATTCATTCT	0.373																																					p.K556X												.	.	0			c.A1666T	4						.						44.0	51.0	48.0					4																	87061		2100	4240	6340	77061	SO:0001624	3_prime_UTR_variant	152687	exon4			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1867A>T	4.37:g.87061A>T		Somatic		Capture	Illumina HiSeq	Phase_I	77061	NM_182524		Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.373	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
ZNF721	170960	broad.mit.edu	37	4	437072	437072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:437072C>T	ENST00000338977.5	-	2	1196	c.1148G>A	c.(1147-1149)gGc>gAc	p.G383D	ZNF721_ENST00000511833.2_Missense_Mutation_p.G395D|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165D(1)|p.G395D(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAAGGCTTTGCCACACTCTTC	0.428																																					p.G395D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1184A	4						.						88.0	94.0	92.0					4																	437072		2133	4263	6396	427072	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1148G>A	4.37:g.437072C>T	ENSP00000340524:p.Gly383Asp	Somatic		Capture	Illumina HiSeq	Phase_I	427072	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	14.58	2.576988	0.45902	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07444	3.19;3.19	0.71	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14442	0.0349	L	0.33293	1	0.38880	D	0.956889	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.991	T	0.10989	-1.0606	9	0.52906	T	0.07	.	7.2684	0.26242	0.0:0.9999:0.0:1.0E-4	.	383;395;395	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	383;395	ENSP00000340524:G383D;ENSP00000428878:G395D	ENSP00000340524:G383D	G	-	2	0	ZNF721	427072	0.149000	0.22717	0.012000	0.15200	0.033000	0.12548	0.605000	0.24179	0.677000	0.31305	0.194000	0.17425	GGC		0.428	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
TMEM175	84286	broad.mit.edu	37	4	945033	945033	+	Missense_Mutation	SNP	C	C	T	rs376563142		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:945033C>T	ENST00000264771.4	+	5	514	c.329C>T	c.(328-330)gCc>gTc	p.A110V	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A28V|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	110						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.A110V(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GACACACTTGCCCTGCTCAAC	0.468																																					p.A110V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329T	4						.	C	VAL/ALA	0,4406		0,0,2203	270.0	238.0	249.0		329	4.8	1.0	4		249	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM175	NM_032326.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	110/505	945033	1,13005	2203	4300	6503	935033	SO:0001583	missense	84286	exon5			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.329C>T	4.37:g.945033C>T	ENSP00000264771:p.Ala110Val	Somatic		Capture	Illumina HiSeq	Phase_I	935033	NM_032326	D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	16.98	3.271327	0.59649	0.0	1.16E-4	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.44850	0.1313	L	0.38175	1.15	0.51482	D	0.999925	P;P;D	0.55172	0.486;0.497;0.97	B;B;P	0.55923	0.372;0.369;0.787	T	0.15925	-1.0420	10	0.17369	T	0.5	-21.9664	13.3172	0.60413	0.0:1.0:0.0:0.0	.	28;110;28	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	V	109;110;97;28;28;28;28;28;110	ENSP00000424746:A109V;ENSP00000264771:A110V;ENSP00000425181:A97V;ENSP00000425867:A28V;ENSP00000421750:A28V;ENSP00000423669:A28V;ENSP00000424208:A28V;ENSP00000425763:A110V	ENSP00000264771:A110V	A	+	2	0	TMEM175	935033	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.891000	0.75639	2.221000	0.72209	0.579000	0.79373	GCC		0.468	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326	
NELFA	7469	broad.mit.edu	37	4	1991465	1991465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1991465C>T	ENST00000411638.2	-	3	529	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NELFA_ENST00000542778.1_Missense_Mutation_p.A37T|NELFA_ENST00000382882.3_Missense_Mutation_p.A183T	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	172					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A172T(1)									CGCAGCGTGGCGCTCTTGGGT	0.572																																					p.A183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	4						.						107.0	127.0	120.0					4																	1991465		2203	4300	6503	1961263	SO:0001583	missense	7469	exon3			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.514G>A	4.37:g.1991465C>T	ENSP00000399165:p.Ala172Thr	Somatic		Capture	Illumina HiSeq	Phase_I	1961263	NM_005663	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	C	37	6.041174	0.97226	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T;T	0.58506	1.48;0.33;0.38;1.48;1.48	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81132	-0.1072	10	0.62326	D	0.03	-25.6591	18.1998	0.89834	0.0:1.0:0.0:0.0	.	172	Q9H3P2	NELFA_HUMAN	T	183;176;37;172;188;102	ENSP00000372335:A183T;ENSP00000387647:A176T;ENSP00000445757:A37T;ENSP00000399165:A172T;ENSP00000395761:A188T	ENSP00000372335:A183T	A	-	1	0	WHSC2	1961263	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.692000	0.84203	2.306000	0.77630	0.609000	0.83330	GCC		0.572	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
NELFA	7469	broad.mit.edu	37	4	1993286	1993286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:1993286C>A	ENST00000411638.2	-	2	382	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000382882.3_Nonsense_Mutation_p.E134*	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	123					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E123*(1)									TCTCTAAGTTCTCCCAAAATA	0.428																																					p.E134X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G400T	4						.						91.0	101.0	97.0					4																	1993286		2203	4300	6503	1963084	SO:0001587	stop_gained	7469	exon2			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.367G>T	4.37:g.1993286C>A	ENSP00000399165:p.Glu123*	Somatic		Capture	Illumina HiSeq	Phase_I	1963084	NM_005663	A2A2T1|O95392	Nonsense_Mutation	SNP	ENST00000411638.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.883434|12.883434	0.99703|0.99703	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000411649|ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762	.|.	.|.	.|.	5.12|5.12	4.28|4.28	0.50868|0.50868	.|.	0.045959|0.045959	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.72787|.	0.3504|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75496|.	-0.3297|.	5|.	.|0.62326	.|D	.|0.03	-20.4808|-20.4808	13.5841|13.5841	0.61919|0.61919	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	.|.	.|.	.|.	D|X	106|134;127;123;139;53	.|.	.|ENSP00000372335:E134X	E|E	-|-	3|1	2|0	WHSC2|WHSC2	1963084|1963084	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.812000|0.812000	0.45895|0.45895	7.653000|7.653000	0.83643|0.83643	1.169000|1.169000	0.42739|0.42739	0.462000|0.462000	0.41574|0.41574	GAG|GAA		0.428	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
NOP14	8602	broad.mit.edu	37	4	2951824	2951824	+	Silent	SNP	G	G	A	rs181539206		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:2951824G>A	ENST00000314262.6	-	8	1167	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	NOP14_ENST00000502735.1_Silent_p.S373S|NOP14_ENST00000416614.2_Silent_p.S373S|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Silent_p.S373S|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	373					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.S373S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTGGGCTGTCGCTCTCCTCTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19880	0.001		0.0	False		,,,				2504	0.0				p.S373S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119T	4						.						312.0	305.0	307.0					4																	2951824		2203	4300	6503	2921622	SO:0001819	synonymous_variant	8602	exon8			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1119C>T	4.37:g.2951824G>A		Somatic		Capture	Illumina HiSeq	Phase_I	2921622	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.552	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
GRK4	2868	broad.mit.edu	37	4	3037162	3037162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:3037162C>T	ENST00000398052.4	+	13	1662	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	GRK4_ENST00000398051.4_Missense_Mutation_p.A408V|GRK4_ENST00000504933.1_Missense_Mutation_p.A440V|GRK4_ENST00000509545.1_Intron|GRK4_ENST00000345167.6_Missense_Mutation_p.A408V	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	440	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in dbSNP:rs1801058).		G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.A440V(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGAGGGAGCGGCTGGGGTG	0.542																																					p.A440V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1319T	4						.						75.0	74.0	74.0					4																	3037162		2203	4300	6503	3006960	SO:0001583	missense	2868	exon13				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1319C>T	4.37:g.3037162C>T	ENSP00000381129:p.Ala440Val	Somatic		Capture	Illumina HiSeq	Phase_I	3006960	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985412	0.53934	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.55	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136991	0.48286	N	0.000194	T	0.51839	0.1698	L	0.42686	1.345	0.80722	D	1	P;P;P;P	0.48998	0.918;0.592;0.918;0.888	B;B;B;B	0.33121	0.158;0.133;0.054;0.137	T	0.53049	-0.8493	10	0.54805	T	0.06	-15.0313	12.4595	0.55723	0.0:0.8407:0.0:0.1593	.	408;408;440;440	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	V	408;440;408;440	ENSP00000381128:A408V;ENSP00000381129:A440V;ENSP00000264764:A408V;ENSP00000427445:A440V	ENSP00000264764:A408V	A	+	2	0	GRK4	3006960	0.978000	0.34361	0.002000	0.10522	0.815000	0.46073	2.517000	0.45529	0.383000	0.24910	0.561000	0.74099	GCG		0.542	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
HTT	3064	broad.mit.edu	37	4	3133099	3133099	+	Silent	SNP	G	G	A	rs374740113		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:3133099G>A	ENST00000355072.5	+	15	2218	c.2073G>A	c.(2071-2073)tcG>tcA	p.S691S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	691					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.S691S(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TATCTGCTTCGTTTTTGCTAA	0.463																																					p.S691S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2073A	4						.	G		1,3967		0,1,1983	111.0	104.0	106.0		2073	-10.1	0.1	4		106	0,8312		0,0,4156	no	coding-synonymous	HTT	NM_002111.6		0,1,6139	AA,AG,GG		0.0,0.0252,0.0081		691/3143	3133099	1,12279	1984	4156	6140	3102897	SO:0001819	synonymous_variant	3064	exon15			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2073G>A	4.37:g.3133099G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3102897	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	broad.mit.edu	37	4	3182386	3182386	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:3182386G>A	ENST00000355072.5	+	36	4894					NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.?(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGTAAGAGGAATGTATGTT	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						104.0	106.0	105.0					4																	3182386		2033	4190	6223	3152184	SO:0001627	intron_variant	3064	.			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4749+8G>A	4.37:g.3182386G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3152184	.	Q9UQB7	Intron	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.438	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
OTOP1	133060	broad.mit.edu	37	4	4190672	4190672	+	Missense_Mutation	SNP	C	C	T	rs554408396		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:4190672C>T	ENST00000296358.4	-	6	1721	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		28434	0.0		0.0	False		,,,				2504	0.0				p.R566Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1697A	4						.						58.0	61.0	60.0					4																	4190672		2203	4300	6503	4241573	SO:0001583	missense	133060	exon6			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1697G>A	4.37:g.4190672C>T	ENSP00000296358:p.Arg566Gln	Somatic		Capture	Illumina HiSeq	Phase_I	4241573	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.408874	0.83340	.	.	ENSG00000163982	ENST00000296358	T	0.20069	2.1	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.40308	-0.9570	10	0.87932	D	0	0.0829	15.7183	0.77688	0.0:1.0:0.0:0.0	.	566	Q7RTM1	OTOP1_HUMAN	Q	566	ENSP00000296358:R566Q	ENSP00000296358:R566Q	R	-	2	0	OTOP1	4241573	1.000000	0.71417	0.968000	0.41197	0.763000	0.43281	5.386000	0.66238	1.998000	0.58463	0.536000	0.68110	CGA		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
ZBTB49	166793	broad.mit.edu	37	4	4304190	4304190	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:4304190G>A	ENST00000337872.4	+	3	748	c.627G>A	c.(625-627)caG>caA	p.Q209Q	ZBTB49_ENST00000355834.3_Silent_p.Q209Q|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q209Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTTTCAAACAGCCAAATTACT	0.438																																					p.Q209Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	4						.						51.0	53.0	52.0					4																	4304190		2203	4300	6503	4355091	SO:0001819	synonymous_variant	166793	exon3			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.627G>A	4.37:g.4304190G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4355091	NM_145291	Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																				0.438	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
ZBTB49	166793	broad.mit.edu	37	4	4322742	4322742	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:4322742A>G	ENST00000337872.4	+	8	2118	c.1997A>G	c.(1996-1998)gAc>gGc	p.D666G	ZBTB49_ENST00000355834.3_Missense_Mutation_p.D544G|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D149G|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	666					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D666G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGAGTTAGTGACCAGGAGAAG	0.527																																					p.D666G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1997G	4						.						51.0	49.0	50.0					4																	4322742		2203	4300	6503	4373643	SO:0001583	missense	166793	exon8			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1997A>G	4.37:g.4322742A>G	ENSP00000338807:p.Asp666Gly	Somatic		Capture	Illumina HiSeq	Phase_I	4373643	NM_145291	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.421527	0.43020	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.13778	2.56;2.89;3.22	4.19	-2.43	0.06522	.	1.060770	0.07389	N	0.888695	T	0.08088	0.0202	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.40117	-0.9580	10	0.44086	T	0.13	.	2.9309	0.05799	0.518:0.2731:0.0771:0.1318	.	544;666	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	G	544;666;149	ENSP00000348091:D544G;ENSP00000338807:D666G;ENSP00000445653:D149G	ENSP00000338807:D666G	D	+	2	0	ZBTB49	4373643	0.001000	0.12720	0.000000	0.03702	0.959000	0.62525	1.216000	0.32443	-0.177000	0.10690	0.374000	0.22700	GAC		0.527	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
CYTL1	54360	broad.mit.edu	37	4	5018686	5018686	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5018686G>T	ENST00000307746.4	-	3	230	c.204C>A	c.(202-204)taC>taA	p.Y68*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	68					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.Y68*(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCAGCACACAGTAATTCTGGG	0.562																																					p.Y68X	Colon(15;457 478 29696 43408 47165)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C204A	4						.						69.0	73.0	71.0					4																	5018686		2203	4300	6503	5069587	SO:0001587	stop_gained	54360	exon3			AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.204C>A	4.37:g.5018686G>T	ENSP00000303550:p.Tyr68*	Somatic		Capture	Illumina HiSeq	Phase_I	5069587	NM_018659		Nonsense_Mutation	SNP	ENST00000307746.4	37	CCDS3379.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957009	0.92726	.	.	ENSG00000170891	ENST00000307746	.	.	.	4.94	4.09	0.47781	.	0.220720	0.40222	N	0.001159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6304	9.183	0.37154	0.1011:0.0:0.8989:0.0	.	.	.	.	X	68	.	ENSP00000303550:Y68X	Y	-	3	2	CYTL1	5069587	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	3.252000	0.51461	1.072000	0.40860	0.561000	0.74099	TAC		0.562	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659	
EVC2	132884	broad.mit.edu	37	4	5586353	5586353	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5586353G>A	ENST00000344408.5	-	17	3107	c.3054C>T	c.(3052-3054)agC>agT	p.S1018S	EVC2_ENST00000344938.1_Silent_p.S1018S|EVC2_ENST00000310917.2_Silent_p.S938S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1018					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1018S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CACTCACCCGGCTGTGCGACT	0.597																																					p.S1018S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3054T	4						.						39.0	40.0	39.0					4																	5586353		2203	4300	6503	5637254	SO:0001819	synonymous_variant	132884	exon17			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3054C>T	4.37:g.5586353G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5637254	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.597	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	broad.mit.edu	37	4	5627468	5627468	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5627468T>G	ENST00000344408.5	-	13	2100				EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2						smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCATCATGCCTTATATACCTT	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						204.0	197.0	199.0					4																	5627468		2203	4300	6503	5678369	SO:0001627	intron_variant	132884	.			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2046+7A>C	4.37:g.5627468T>G		Somatic		Capture	Illumina HiSeq	Phase_I	5678369	.	Q86YT3|Q86YT4|Q8NG49	Intron	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.398	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	broad.mit.edu	37	4	5627575	5627575	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5627575G>T	ENST00000344408.5	-	13	2000	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	EVC2_ENST00000344938.1_Silent_p.V649V|EVC2_ENST00000310917.2_Silent_p.V569V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	649					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V649V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGATTGAAAAGACTTCTGTCT	0.408																																					p.V649V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1947A	4						.						169.0	156.0	160.0					4																	5627575		2203	4300	6503	5678476	SO:0001819	synonymous_variant	132884	exon13			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1947C>A	4.37:g.5627575G>T		Somatic		Capture	Illumina HiSeq	Phase_I	5678476	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.408	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	broad.mit.edu	37	4	5642236	5642236	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5642236C>A	ENST00000344408.5	-	10	1524				EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2						smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCAGACCTGTCTTACCCTCTC	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						342.0	280.0	301.0					4																	5642236		2203	4300	6503	5693137	SO:0001627	intron_variant	132884	.			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1470+4G>T	4.37:g.5642236C>A		Somatic		Capture	Illumina HiSeq	Phase_I	5693137	.	Q86YT3|Q86YT4|Q8NG49	Intron	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.478	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC	2121	broad.mit.edu	37	4	5720963	5720963	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5720963T>G	ENST00000264956.6	+	2	358				EVC_ENST00000509451.1_Intron|EVC_ENST00000382674.2_Intron	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome						cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTCCTGACCTTCGGGTTTTA	0.537																																					.												.	.	0			.	4						.						122.0	131.0	128.0					4																	5720963		2203	4300	6503	5771864	SO:0001627	intron_variant	2121	.			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.175-12T>G	4.37:g.5720963T>G		Somatic		Capture	Illumina HiSeq	Phase_I	5771864	.		Intron	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																				0.537	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
EVC	2121	broad.mit.edu	37	4	5731067	5731067	+	Missense_Mutation	SNP	G	G	T	rs567280707		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5731067G>T	ENST00000264956.6	+	3	518	c.334G>T	c.(334-336)Gca>Tca	p.A112S	EVC_ENST00000509451.1_Missense_Mutation_p.A112S|EVC_ENST00000382674.2_Missense_Mutation_p.A112S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	112					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A112S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CAATATCACAGCATTCGCCCT	0.473																																					p.A112S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334T	4						.						142.0	129.0	133.0					4																	5731067		2203	4300	6503	5781968	SO:0001583	missense	2121	exon3			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.334G>T	4.37:g.5731067G>T	ENSP00000264956:p.Ala112Ser	Somatic		Capture	Illumina HiSeq	Phase_I	5781968	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159767	0.57368	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.73897	-0.79;-0.79;-0.56	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.64997	1.995	0.53688	D	0.999975	D	0.56035	0.974	P	0.54499	0.754	D	0.83931	0.0306	10	0.87932	D	0	.	17.495	0.87715	0.0:0.0:1.0:0.0	.	112	P57679	EVC_HUMAN	S	112	ENSP00000264956:A112S;ENSP00000372120:A112S;ENSP00000426774:A112S	ENSP00000264956:A112S	A	+	1	0	EVC	5781968	0.998000	0.40836	0.650000	0.29550	0.018000	0.09664	5.581000	0.67471	2.442000	0.82660	0.655000	0.94253	GCA		0.473	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
EVC	2121	broad.mit.edu	37	4	5747029	5747029	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5747029A>C	ENST00000264956.6	+	7	1084	c.900A>C	c.(898-900)gaA>gaC	p.E300D	EVC_ENST00000509451.1_Missense_Mutation_p.E300D|EVC_ENST00000382674.2_Missense_Mutation_p.E300D	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	300					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E300D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGATGTGGAAAAGAAGGAGA	0.433																																					p.E300D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A900C	4						.						131.0	128.0	129.0					4																	5747029		2203	4300	6503	5797930	SO:0001583	missense	2121	exon7			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.900A>C	4.37:g.5747029A>C	ENSP00000264956:p.Glu300Asp	Somatic		Capture	Illumina HiSeq	Phase_I	5797930	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.703341	0.30232	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.75589	-0.95;-0.95;-0.54	5.4	-3.18	0.05186	.	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	M	0.65498	2.005	0.45567	D	0.99851	D	0.76494	0.999	D	0.80764	0.994	T	0.80522	-0.1345	10	0.66056	D	0.02	.	14.7177	0.69284	0.2995:0.0:0.7005:0.0	.	300	P57679	EVC_HUMAN	D	300	ENSP00000264956:E300D;ENSP00000372120:E300D;ENSP00000426774:E300D	ENSP00000264956:E300D	E	+	3	2	EVC	5797930	1.000000	0.71417	0.578000	0.28575	0.006000	0.05464	0.536000	0.23129	-0.914000	0.03827	-0.385000	0.06624	GAA		0.433	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
C4orf50	389197	broad.mit.edu	37	4	5969168	5969168	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:5969168T>C	ENST00000324058.5	-	5	519	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C4orf50_ENST00000531445.1_Missense_Mutation_p.K618E			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	144								p.K144E(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATCTCAGACTTGACGTCCAGG	0.512																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	4						.						144.0	126.0	132.0					4																	5969168		2203	4300	6503	6020069	SO:0001583	missense	0	.			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.430A>G	4.37:g.5969168T>C	ENSP00000317287:p.Lys144Glu	Somatic		Capture	Illumina HiSeq	Phase_I	6020069	.		IGR	SNP	ENST00000324058.5	37		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399503	0.01165	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.19669	2.13;2.13	2.99	0.141	0.14811	.	1.305730	0.05264	N	0.516271	T	0.05593	0.0147	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34329	-0.9833	10	0.02654	T	1	-1.0281	5.0197	0.14354	0.0:0.4973:0.0:0.5027	.	144	Q6ZRC1	CD050_HUMAN	E	618;144	ENSP00000437121:K618E;ENSP00000317287:K144E	ENSP00000317287:K144E	K	-	1	0	C4orf50	6020069	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.031000	0.13710	-0.008000	0.14320	-0.242000	0.12053	AAG		0.512	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405	
KIAA0232	9778	broad.mit.edu	37	4	6863322	6863322	+	Missense_Mutation	SNP	G	G	A	rs370128398		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:6863322G>A	ENST00000307659.5	+	7	1668	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E405K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	405							ATP binding (GO:0005524)	p.E405K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GTGGTACACCGAGCCAATTGC	0.433																																					p.E405K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1213A	4						.	G	LYS/GLU,LYS/GLU	0,3762		0,0,1881	59.0	61.0	61.0		1213,1213	5.7	1.0	4		61	1,8229		0,1,4114	no	missense,missense	KIAA0232	NM_001100590.1,NM_014743.2	56,56	0,1,5995	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	405/1396,405/1396	6863322	1,11991	1881	4115	5996	6914223	SO:0001583	missense	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1213G>A	4.37:g.6863322G>A	ENSP00000303928:p.Glu405Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6914223	NM_014743	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787887	0.96945	0.0	1.22E-4	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80248	-0.1461	9	0.87932	D	0	-23.9516	19.9169	0.97065	0.0:0.0:1.0:0.0	.	405	Q92628	K0232_HUMAN	K	405	.	ENSP00000303928:E405K	E	+	1	0	KIAA0232	6914223	1.000000	0.71417	0.976000	0.42696	0.967000	0.64934	9.386000	0.97228	2.715000	0.92844	0.655000	0.94253	GAG		0.433	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
TBC1D14	57533	broad.mit.edu	37	4	7012435	7012435	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:7012435A>G	ENST00000409757.4	+	11	1698	c.1574A>G	c.(1573-1575)gAt>gGt	p.D525G	TBC1D14_ENST00000446947.2_Missense_Mutation_p.D172G|TBC1D14_ENST00000410031.1_Missense_Mutation_p.D297G|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D525G|TBC1D14_ENST00000451522.2_Missense_Mutation_p.D245G	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	525	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.D510G(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GATACTGCAGATGCCTTTATT	0.473																																					p.D525G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1574G	4						.						306.0	253.0	271.0					4																	7012435		2203	4300	6503	7063336	SO:0001583	missense	57533	exon11			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1574A>G	4.37:g.7012435A>G	ENSP00000386921:p.Asp525Gly	Somatic		Capture	Illumina HiSeq	Phase_I	7063336	NM_001113361	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	A	31	5.090382	0.94149	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36	5.45	5.45	0.79879	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.88377	2.95	0.80722	D	1	D;B;B	0.63880	0.993;0.338;0.417	D;B;P	0.63283	0.913;0.187;0.472	T	0.10567	-1.0624	10	0.72032	D	0.01	-30.3657	14.704	0.69174	1.0:0.0:0.0:0.0	.	172;245;525	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	G	525;525;297;245;178;172	ENSP00000404041:D525G;ENSP00000386921:D525G;ENSP00000386343:D297G;ENSP00000388886:D245G;ENSP00000389082:D178G;ENSP00000405875:D172G	ENSP00000386921:D525G	D	+	2	0	TBC1D14	7063336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.885000	0.92439	2.081000	0.62600	0.448000	0.29417	GAT		0.473	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	
CCDC96	257236	broad.mit.edu	37	4	7043545	7043545	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:7043545G>A	ENST00000310085.4	-	1	1183	c.1121C>T	c.(1120-1122)gCc>gTc	p.A374V	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	374								p.A374V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CAGCCGCACGGCGCTCATCTC	0.592																																					p.A374V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1121T	4						.						73.0	82.0	79.0					4																	7043545		2203	4300	6503	7094446	SO:0001583	missense	257236	exon1			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1121C>T	4.37:g.7043545G>A	ENSP00000309285:p.Ala374Val	Somatic		Capture	Illumina HiSeq	Phase_I	7094446	NM_153376	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456693	0.43634	.	.	ENSG00000173013	ENST00000310085	T	0.50548	0.74	3.98	3.11	0.35812	.	0.655227	0.14214	N	0.333887	T	0.39279	0.1072	L	0.49126	1.545	0.09310	N	1	P	0.43788	0.817	B	0.41988	0.372	T	0.17745	-1.0359	10	0.32370	T	0.25	-8.3935	6.183	0.20482	0.0945:0.0:0.6052:0.3003	.	374	Q2M329	CCD96_HUMAN	V	374	ENSP00000309285:A374V	ENSP00000309285:A374V	A	-	2	0	CCDC96	7094446	0.082000	0.21442	0.417000	0.26559	0.756000	0.42949	1.407000	0.34657	2.068000	0.61886	0.462000	0.41574	GCC		0.592	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
GRPEL1	80273	broad.mit.edu	37	4	7062676	7062676	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:7062676G>A	ENST00000264954.4	-	4	731	c.567C>T	c.(565-567)ggC>ggT	p.G189G	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	189					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)	p.G189G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGGCCACTGTGCCTGGCTCCT	0.572																																					p.G189G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	4						.						117.0	122.0	121.0					4																	7062676		2203	4300	6503	7113577	SO:0001819	synonymous_variant	80273	exon4			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.567C>T	4.37:g.7062676G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7113577	NM_025196	B2R783|Q549M6	Silent	SNP	ENST00000264954.4	37	CCDS3396.1																																																																																				0.572	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196	
SORCS2	57537	broad.mit.edu	37	4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T	rs370833021		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A713V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGATGAGGCGGTGCTCTTT	0.587																																					p.A863V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2588T	4						.	C	VAL/ALA	0,4052		0,0,2026	46.0	48.0	47.0		2588	2.0	0.0	4		47	1,8347		0,1,4173	no	missense	SORCS2	NM_020777.2	64	0,1,6199	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	863/1160	7725587	1,12399	2026	4174	6200	7776487	SO:0001583	missense	57537	exon19			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2588C>T	4.37:g.7725587C>T	ENSP00000422185:p.Ala863Val	Somatic		Capture	Illumina HiSeq	Phase_I	7776487	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767768	0.31320	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68903	-0.36;-0.36	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (3);	0.261105	0.28883	U	0.013831	T	0.62134	0.2403	M	0.65498	2.005	0.44899	D	0.997912	P;D	0.63880	0.895;0.993	B;B	0.43018	0.198;0.405	T	0.62973	-0.6740	10	0.56958	D	0.05	.	9.4847	0.38922	0.0:0.8919:0.0:0.1081	.	691;863	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	863;691	ENSP00000422185:A863V;ENSP00000329124:A691V	ENSP00000329124:A691V	A	+	2	0	SORCS2	7776487	1.000000	0.71417	0.028000	0.17463	0.002000	0.02628	6.946000	0.75953	0.399000	0.25367	-0.373000	0.07131	GCG		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
AFAP1	60312	broad.mit.edu	37	4	7811480	7811480	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:7811480C>A	ENST00000360265.4	-	8	1149	c.915G>T	c.(913-915)aaG>aaT	p.K305N	AFAP1_ENST00000420658.1_Missense_Mutation_p.K305N|AFAP1_ENST00000358461.2_Missense_Mutation_p.K305N|AFAP1_ENST00000382543.3_Missense_Mutation_p.K305N			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	305						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.K305N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGGAACTTTTCTTCCTCTTCA	0.373																																					p.K305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	4						.						120.0	111.0	114.0					4																	7811480		2203	4300	6503	7862380	SO:0001583	missense	60312	exon9			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.915G>T	4.37:g.7811480C>A	ENSP00000353402:p.Lys305Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7862380	NM_198595	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507833	0.64410	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.22134	2.01;1.97;2.01;1.97	5.15	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	M	0.64404	1.975	0.49299	D	0.999775	D;D	0.69078	0.997;0.968	P;B	0.58928	0.848;0.4	T	0.05852	-1.0860	10	0.87932	D	0	-25.6383	8.2742	0.31862	0.0:0.5734:0.0:0.4266	.	305;305	E9PDT7;Q8N556	.;AFAP1_HUMAN	N	305	ENSP00000353402:K305N;ENSP00000410689:K305N;ENSP00000351245:K305N;ENSP00000371983:K305N	ENSP00000351245:K305N	K	-	3	2	AFAP1	7862380	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	0.319000	0.19522	0.504000	0.28082	0.655000	0.94253	AAG		0.373	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
SH3TC1	54436	broad.mit.edu	37	4	8233830	8233830	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:8233830G>T	ENST00000245105.3	+	13	3145	c.3078G>T	c.(3076-3078)gaG>gaT	p.E1026D	SH3TC1_ENST00000539824.1_Missense_Mutation_p.E950D	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1026								p.E1026D(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGTGCTGGAGGGGCAGCTCC	0.672																																					p.E1026D	NSCLC(145;2298 2623 35616 37297)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3078T	4						.						51.0	47.0	49.0					4																	8233830		2203	4300	6503	8284730	SO:0001583	missense	54436	exon13			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3078G>T	4.37:g.8233830G>T	ENSP00000245105:p.Glu1026Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8284730	NM_018986	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266894	0.80469	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	D;D	0.82167	-1.57;-1.58	4.53	3.67	0.42095	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.74881	2.28	0.48632	D	0.999682	D	0.89917	1.0	D	0.85130	0.997	D	0.90165	0.4231	10	0.54805	T	0.06	-29.6021	13.5379	0.61657	0.081:0.0:0.919:0.0	.	1026	Q8TE82	S3TC1_HUMAN	D	764;1026;950;855	ENSP00000245105:E1026D;ENSP00000441045:E950D	ENSP00000245105:E1026D	E	+	3	2	SH3TC1	8284730	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.282000	0.76494	0.449000	0.29647	GAG		0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
CPZ	8532	broad.mit.edu	37	4	8607726	8607726	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:8607726G>T	ENST00000360986.4	+	5	894	c.720G>T	c.(718-720)gaG>gaT	p.E240D	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E229D|CPZ_ENST00000382480.2_Missense_Mutation_p.E103D	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	240					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E240D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587																																					p.E240D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G720T	4						.						90.0	81.0	84.0					4																	8607726		2203	4300	6503	8658626	SO:0001583	missense	8532	exon5			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.720G>T	4.37:g.8607726G>T	ENSP00000354255:p.Glu240Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8658626	NM_001014447	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	19.59	3.856802	0.71834	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11821	2.74;2.74;2.74	3.34	2.35	0.29111	Peptidase M14, carboxypeptidase A (2);	0.288219	0.32753	U	0.005688	T	0.28433	0.0703	M	0.74881	2.28	0.80722	D	1	D;D	0.65815	0.99;0.995	P;D	0.65140	0.719;0.932	T	0.02933	-1.1092	10	0.87932	D	0	-18.4575	5.2799	0.15670	0.2931:0.0:0.7069:0.0	.	229;240	Q66K79-2;Q66K79	.;CBPZ_HUMAN	D	240;103;229	ENSP00000354255:E240D;ENSP00000371920:E103D;ENSP00000315074:E229D	ENSP00000315074:E229D	E	+	3	2	CPZ	8658626	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.444000	0.44890	1.713000	0.51359	0.461000	0.40582	GAG		0.587	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
SLIT2	9353	broad.mit.edu	37	4	20525510	20525510	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:20525510C>T	ENST00000504154.1	+	13	1510	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	SLIT2_ENST00000503823.1_Missense_Mutation_p.R420W|SLIT2_ENST00000273739.5_Missense_Mutation_p.R424W|SLIT2_ENST00000503837.1_Missense_Mutation_p.R424W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	420					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R420W(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCACCTCTTCGGGCCATTCA	0.428																																					p.R420W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1258T	4						.						163.0	152.0	155.0					4																	20525510		2203	4300	6503	20134608	SO:0001583	missense	9353	exon13			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1258C>T	4.37:g.20525510C>T	ENSP00000422591:p.Arg420Trp	Somatic		Capture	Illumina HiSeq	Phase_I	20134608	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536540	0.65085	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.3	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.937	T	0.72551	-0.4259	10	0.87932	D	0	.	15.1706	0.72869	0.1465:0.8535:0.0:0.0	.	420;420	O94813-3;O94813	.;SLIT2_HUMAN	W	420;420;424;424;424	ENSP00000427548:R420W;ENSP00000422591:R420W;ENSP00000273739:R424W;ENSP00000422261:R424W	ENSP00000273739:R424W	R	+	1	2	SLIT2	20134608	0.977000	0.34250	1.000000	0.80357	0.842000	0.47809	2.507000	0.45442	1.302000	0.44855	0.650000	0.86243	CGG		0.428	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	broad.mit.edu	37	4	20541068	20541068	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:20541068T>C	ENST00000504154.1	+	19	2089	c.1837T>C	c.(1837-1839)Ttg>Ctg	p.L613L	SLIT2_ENST00000503823.1_Silent_p.L605L|SLIT2_ENST00000273739.5_Silent_p.L617L|SLIT2_ENST00000503837.1_Silent_p.L609L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	613					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.L613L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCAGGATGTTGAGAAGCAA	0.393																																					p.L613L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1837C	4						.						153.0	147.0	149.0					4																	20541068		2203	4300	6503	20150166	SO:0001819	synonymous_variant	9353	exon19			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1837T>C	4.37:g.20541068T>C		Somatic		Capture	Illumina HiSeq	Phase_I	20150166	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.393	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	broad.mit.edu	37	4	20555580	20555580	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:20555580T>G	ENST00000504154.1	+	26	2966	c.2714T>G	c.(2713-2715)tTt>tGt	p.F905C	SLIT2_ENST00000503823.1_Missense_Mutation_p.F897C|SLIT2_ENST00000273739.5_Missense_Mutation_p.F909C|SLIT2_ENST00000503837.1_Missense_Mutation_p.F901C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	905	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.F905C(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCCAAAAAATTTACCTGTCAA	0.353																																					p.F905C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2714G	4						.						80.0	82.0	81.0					4																	20555580		2203	4300	6503	20164678	SO:0001583	missense	9353	exon26			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2714T>G	4.37:g.20555580T>G	ENSP00000422591:p.Phe905Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20164678	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.32|19.32	3.804455|3.804455	0.70682|0.70682	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;D;D;D|.	0.89746|.	-1.67;-1.67;-1.58;-1.66;-2.56|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.89739|0.89739	0.3932|0.3932	10|5	0.72032|.	D|.	0.01|.	.|.	15.4878|15.4878	0.75582|0.75582	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	897;905|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|M	897;905;909;901;901;106|35	ENSP00000427548:F897C;ENSP00000422591:F905C;ENSP00000273739:F909C;ENSP00000422261:F901C;ENSP00000421975:F106C|.	ENSP00000273739:F909C|.	F|I	+|+	2|3	0|3	SLIT2|SLIT2	20164678|20164678	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.783000|0.783000	0.44284|0.44284	7.997000|7.997000	0.88414|0.88414	2.128000|2.128000	0.65567|0.65567	0.377000|0.377000	0.23210|0.23210	TTT|ATT		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	broad.mit.edu	37	4	20620405	20620405	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:20620405G>T	ENST00000504154.1	+	37	4615	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1447W|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1468W|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1451W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1455	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.G1455W(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCTTGTCGAGGGGAAAGGAT	0.433																																					p.G1455W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4363T	4						.						94.0	97.0	96.0					4																	20620405		2203	4300	6503	20229503	SO:0001583	missense	9353	exon37			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4363G>T	4.37:g.20620405G>T	ENSP00000422591:p.Gly1455Trp	Somatic		Capture	Illumina HiSeq	Phase_I	20229503	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127694	0.77549	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.46;-1.46;-1.4;-1.44	6.07	6.07	0.98685	Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90906	0.7142	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90792	0.4687	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1447;1455	O94813-3;O94813	.;SLIT2_HUMAN	W	1447;1455;1468;1451;1451	ENSP00000427548:G1447W;ENSP00000422591:G1455W;ENSP00000273739:G1468W;ENSP00000422261:G1451W	ENSP00000273739:G1468W	G	+	1	0	SLIT2	20229503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GGG		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
KCNIP4	80333	broad.mit.edu	37	4	20751288	20751288	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:20751288G>A	ENST00000382152.2	-	5	593	c.426C>T	c.(424-426)ttC>ttT	p.F142F	KCNIP4_ENST00000447367.2_Silent_p.F108F|KCNIP4_ENST00000382148.3_Silent_p.F117F|KCNIP4_ENST00000382150.4_Silent_p.F121F|KCNIP4_ENST00000359001.5_Silent_p.F80F|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Silent_p.F80F	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	142	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F121F(2)|p.F108F(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGCTTACCTCGAAACTCACAG	0.358																																					p.F80F												.	.	4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	c.C240T	4						.						105.0	96.0	99.0					4																	20751288		2203	4300	6503	20360386	SO:0001819	synonymous_variant	80333	exon4			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.426C>T	4.37:g.20751288G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20360386	NM_001035004	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	CCDS43216.1																																																																																				0.358	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221	
GPR125	166647	broad.mit.edu	37	4	22389573	22389573	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:22389573C>T	ENST00000334304.5	-	19	3990	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1241					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.D1241N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTACAAGCATCGCTGCTGTCT	0.468																																					p.D1241N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3721A	4						.						107.0	102.0	104.0					4																	22389573		2203	4300	6503	21998671	SO:0001583	missense	166647	exon19			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3721G>A	4.37:g.22389573C>T	ENSP00000334952:p.Asp1241Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21998671	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899505	0.72754	.	.	ENSG00000152990	ENST00000334304	T	0.55588	0.51	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.992;0.997	P;P	0.58660	0.843;0.734	T	0.69266	-0.5190	10	0.52906	T	0.07	-37.8528	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1098;1241	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	N	1241	ENSP00000334952:D1241N	ENSP00000334952:D1241N	D	-	1	0	GPR125	21998671	1.000000	0.71417	0.917000	0.36280	0.961000	0.63080	7.294000	0.78760	2.857000	0.98124	0.650000	0.86243	GAT		0.468	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
MIR573	693158	broad.mit.edu	37	4	24521840	24521840	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:24521840C>T	ENST00000384964.1	-	0	73					NR_030299.1				microRNA 573																		CCCTGACAAGCGACATAACTT	0.393																																					.												.	.	0			.	4						.						213.0	200.0	204.0					4																	24521840		1568	3582	5150	24130938			0	.					4p15.2	2011-09-12		2008-12-18	ENSG00000207697	ENSG00000207697		"""ncRNAs / Micro RNAs"""	32829	non-coding RNA	RNA, micro				MIRN573			Standard	NR_030299		Approved	hsa-mir-573	uc021xmx.1				4.37:g.24521840C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24130938	.		IGR	SNP	ENST00000384964.1	37																																																																																					0.393	MIR573-201	KNOWN	basic	miRNA	miRNA		NR_030299	
DHX15	1665	broad.mit.edu	37	4	24556419	24556419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:24556419G>A	ENST00000336812.4	-	5	1165	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	337					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R337*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATAACTGTTCGAATTGCTGCT	0.378																																					p.R337X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1009T	4						.						178.0	170.0	172.0					4																	24556419		2203	4300	6503	24165517	SO:0001587	stop_gained	1665	exon5			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1009C>T	4.37:g.24556419G>A	ENSP00000336741:p.Arg337*	Somatic		Capture	Illumina HiSeq	Phase_I	24165517	NM_001358	Q9NQT7	Nonsense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565978	0.98361	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	6.05	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	16.1713	0.81820	0.0:0.0:0.8661:0.1339	.	.	.	.	X	337;326	.	ENSP00000336741:R337X	R	-	1	2	DHX15	24165517	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.208000	0.72165	2.878000	0.98634	0.650000	0.86243	CGA		0.378	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	
DHX15	1665	broad.mit.edu	37	4	24578022	24578022	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:24578022C>T	ENST00000336812.4	-	2	507	c.351G>A	c.(349-351)ccG>ccA	p.P117P		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	117					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.P117P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGTTGGTGAACGGATTAATGC	0.448																																					p.P117P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	4						.						261.0	241.0	248.0					4																	24578022		2203	4300	6503	24187120	SO:0001819	synonymous_variant	1665	exon2			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.351G>A	4.37:g.24578022C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24187120	NM_001358	Q9NQT7	Silent	SNP	ENST00000336812.4	37	CCDS33966.1																																																																																				0.448	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	
LGI2	55203	broad.mit.edu	37	4	25005431	25005431	+	Missense_Mutation	SNP	C	C	T	rs139886364		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:25005431C>T	ENST00000382114.4	-	8	1465	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	427						extracellular region (GO:0005576)		p.R427Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATTTTGCATTCGGAAGCTCTT	0.517																																					p.R427Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280A	4						.	C	GLN/ARG	0,4406		0,0,2203	206.0	216.0	213.0		1280	3.8	0.0	4	dbSNP_134	213	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LGI2	NM_018176.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	427/546	25005431	2,13004	2203	4300	6503	24614529	SO:0001583	missense	55203	exon8			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1280G>A	4.37:g.25005431C>T	ENSP00000371548:p.Arg427Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24614529	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	7.040	0.562416	0.13498	0.0	2.33E-4	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.13657	2.57	5.58	3.85	0.44370	.	0.239689	0.40554	N	0.001075	T	0.08088	0.0202	L	0.29908	0.895	0.18873	N	0.999988	B	0.29646	0.253	B	0.23150	0.044	T	0.35822	-0.9773	10	0.15499	T	0.54	-10.1292	7.5064	0.27547	0.0:0.7196:0.1376:0.1428	.	427	Q8N0V4	LGI2_HUMAN	Q	427;75	ENSP00000371548:R427Q	ENSP00000282970:R75Q	R	-	2	0	LGI2	24614529	0.260000	0.24053	0.017000	0.16124	0.404000	0.30871	2.711000	0.47177	0.708000	0.31955	0.557000	0.71058	CGA		0.517	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
LGI2	55203	broad.mit.edu	37	4	25005709	25005709	+	Silent	SNP	G	G	A	rs191824666	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:25005709G>A	ENST00000382114.4	-	8	1187	c.1002C>T	c.(1000-1002)atC>atT	p.I334I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	334						extracellular region (GO:0005576)		p.I334I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCTCGTCGTCGATCTGAAACA	0.438													G|||	2	0.000399361	0.0	0.0029	5008	,	,		21600	0.0		0.0	False		,,,				2504	0.0				p.I334I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002T	4						.						141.0	141.0	141.0					4																	25005709		2203	4300	6503	24614807	SO:0001819	synonymous_variant	55203	exon8			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1002C>T	4.37:g.25005709G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24614807	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	CCDS3431.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	7.812	0.715839	0.15306	.	.	ENSG00000153012	ENST00000282970	.	.	.	5.55	1.54	0.23209	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55774	-0.8088	5	0.87932	D	0	-33.8627	5.3573	0.16067	0.3923:0.0:0.4519:0.1558	.	.	.	.	L	8	.	ENSP00000282970:S8L	S	-	2	0	LGI2	24614807	0.926000	0.31397	0.999000	0.59377	0.983000	0.72400	-0.040000	0.12104	0.302000	0.22762	-0.252000	0.11476	TCG		0.438	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
ANAPC4	29945	broad.mit.edu	37	4	25417166	25417166	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:25417166A>C	ENST00000315368.3	+	26	2043				ANAPC4_ENST00000510092.1_Intron	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GAAGAAGGTAAGTCTTGAATC	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						107.0	107.0	107.0					4																	25417166		2203	4300	6503	25026264	SO:0001627	intron_variant	29945	.			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1901+4A>C	4.37:g.25417166A>C		Somatic		Capture	Illumina HiSeq	Phase_I	25026264	.	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Intron	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																				0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
SLC34A2	10568	broad.mit.edu	37	4	25677861	25677861	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:25677861C>A	ENST00000382051.3	+	13	1613	c.1563C>A	c.(1561-1563)atC>atA	p.I521I	SLC34A2_ENST00000504570.1_Silent_p.I520I|SLC34A2_ENST00000503434.1_Silent_p.I520I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	521					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.I521I(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGGCAACATCTCTGCCAAGT	0.597			T	ROS1	NSCLC																																p.I521I			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1563A	4						.						172.0	151.0	158.0					4																	25677861		2203	4300	6503	25286959	SO:0001819	synonymous_variant	10568	exon13			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1563C>A	4.37:g.25677861C>A		Somatic		Capture	Illumina HiSeq	Phase_I	25286959	NM_006424	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.597	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
SEL1L3	23231	broad.mit.edu	37	4	25821487	25821487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:25821487C>A	ENST00000399878.3	-	8	1488	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.E303*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.E421*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	456						integral component of membrane (GO:0016021)		p.E303*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATACTATTTCTTGAACCTCA	0.418																																					p.E456X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1366T	4						.						83.0	78.0	80.0					4																	25821487		1953	4138	6091	25430585	SO:0001587	stop_gained	23231	exon8			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1366G>T	4.37:g.25821487C>A	ENSP00000382767:p.Glu456*	Somatic		Capture	Illumina HiSeq	Phase_I	25430585	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	36	5.945286	0.97134	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	.	.	.	6.17	6.17	0.99709	.	0.476291	0.26404	N	0.024578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.476	16.3795	0.83443	0.0:1.0:0.0:0.0	.	.	.	.	X	456;421;303	.	ENSP00000264868:E421X	E	-	1	0	SEL1L3	25430585	0.998000	0.40836	0.079000	0.20413	0.138000	0.21146	4.218000	0.58554	2.941000	0.99782	0.655000	0.94253	GAA		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
CCKAR	886	broad.mit.edu	37	4	26490892	26490892	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:26490892G>A	ENST00000295589.3	-	2	521	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	109					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.F109F(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557																																					p.F109F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	4						.						161.0	145.0	150.0					4																	26490892		2203	4300	6503	26099990	SO:0001819	synonymous_variant	886	exon2			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.327C>T	4.37:g.26490892G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26099990	NM_000730	B2R9Z5	Silent	SNP	ENST00000295589.3	37	CCDS3438.1																																																																																				0.557	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
Unknown	0	broad.mit.edu	37	4	27162484	27162484	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:27162484G>T								RP11-415C15.1 (20811 upstream) : AC024132.1 (46642 downstream)																							GGTTTATAAAGAGATTACATT	0.418																																					.												.	.	0			.	4						.						1093.0	956.0	998.0					4																	27162484		876	1991	2867	26771582	SO:0001628	intergenic_variant	0	.																															4.37:g.27162484G>T		Somatic		Capture	Illumina HiSeq	Phase_I	26771582	.		IGR	SNP		37																																																																																				0	0.418								
PCDH7	5099	broad.mit.edu	37	4	30724556	30724556	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:30724556C>A	ENST00000361762.2	+	1	2520	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V	PCDH7_ENST00000543491.1_Silent_p.V504V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	504	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V457V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAACGTGGTCATCGTGGCGG	0.597																																					p.V504V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512A	4						.						66.0	55.0	59.0					4																	30724556		2203	4300	6503	30333654	SO:0001819	synonymous_variant	5099	exon1			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1512C>A	4.37:g.30724556C>A		Somatic		Capture	Illumina HiSeq	Phase_I	30333654	NM_001173523	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	3.623	-0.077198	0.07184	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.26	3.51	0.40186	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55786	-0.8086	4	.	.	.	.	8.928	0.35652	0.0:0.7231:0.1316:0.1453	.	.	.	.	N	194	.	.	H	+	1	0	PCDH7	30333654	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.570000	0.23653	1.448000	0.47680	0.655000	0.94253	CAT		0.597	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
ARAP2	116984	broad.mit.edu	37	4	36069844	36069844	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:36069844G>T	ENST00000303965.4	-	33	5289	c.4800C>A	c.(4798-4800)tcC>tcA	p.S1600S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1600					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.S1600S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGAGTCCACGGACTCTTTAT	0.458																																					p.S1600S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4800A	4						.						80.0	83.0	82.0					4																	36069844		2203	4300	6503	35746239	SO:0001819	synonymous_variant	116984	exon33			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4800C>A	4.37:g.36069844G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35746239	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																				0.458	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36152626	36152626	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:36152626C>T	ENST00000303965.4	-	16	3282	c.2793G>A	c.(2791-2793)ttG>ttA	p.L931L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	931	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L931L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATAGTAACTCAAGAAGCCTC	0.308																																					p.L931L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2793A	4						.						128.0	128.0	128.0					4																	36152626		2203	4299	6502	35829021	SO:0001819	synonymous_variant	116984	exon16			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2793G>A	4.37:g.36152626C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35829021	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																				0.308	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36162092	36162092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:36162092C>A	ENST00000303965.4	-	13	2920	c.2431G>T	c.(2431-2433)Gaa>Taa	p.E811*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	811	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E811*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTATTTAATTCTTCTTTGGTG	0.279																																					p.E811X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2431T	4						.						32.0	33.0	33.0					4																	36162092		2199	4281	6480	35838487	SO:0001587	stop_gained	116984	exon13			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2431G>T	4.37:g.36162092C>A	ENSP00000302895:p.Glu811*	Somatic		Capture	Illumina HiSeq	Phase_I	35838487	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	45	11.330916	0.99547	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.67	5.67	0.87782	.	0.116102	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.269	0.82606	0.0:0.8587:0.1413:0.0	.	.	.	.	X	811	.	ENSP00000302895:E811X	E	-	1	0	ARAP2	35838487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.797000	0.47877	2.670000	0.90874	0.655000	0.94253	GAA		0.279	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RELL1	768211	broad.mit.edu	37	4	37636637	37636637	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:37636637G>A	ENST00000454158.2	-	5	640	c.552C>T	c.(550-552)ggC>ggT	p.G184G	RELL1_ENST00000314117.4_Silent_p.G184G	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	184						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.G184G(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CGACAACACCGCCCACCGTAT	0.612																																					p.G184G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	4						.						76.0	78.0	77.0					4																	37636637		2083	4198	6281	37313032	SO:0001819	synonymous_variant	768211	exon5			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.552C>T	4.37:g.37636637G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37313032	NM_001085399	Q8NBK1	Silent	SNP	ENST00000454158.2	37	CCDS43221.1																																																																																				0.612	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400	
TBC1D1	23216	broad.mit.edu	37	4	38119760	38119760	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38119760T>C	ENST00000261439.4	+	17	3264	c.2909T>C	c.(2908-2910)tTc>tCc	p.F970S	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	970	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.F970S(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCCCCCTGGTTCCTCACCATG	0.522																																					p.F970S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2909C	4						.						147.0	145.0	146.0					4																	38119760		2203	4300	6503	37796155	SO:0001583	missense	23216	exon17			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2909T>C	4.37:g.38119760T>C	ENSP00000261439:p.Phe970Ser	Somatic		Capture	Illumina HiSeq	Phase_I	37796155	NM_015173	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988420	0.93106	.	.	ENSG00000065882	ENST00000261439;ENST00000454732	T	0.30448	1.53	5.7	5.7	0.88788	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000006	T	0.69079	0.3071	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80291	-0.1444	10	0.87932	D	0	-21.2616	15.9765	0.80071	0.0:0.0:0.0:1.0	.	702;970	Q6PJJ8;Q86TI0	.;TBCD1_HUMAN	S	970;234	ENSP00000261439:F970S	ENSP00000261439:F970S	F	+	2	0	TBC1D1	37796155	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.539000	0.82063	2.172000	0.68678	0.533000	0.62120	TTC		0.522	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
TLR1	7096	broad.mit.edu	37	4	38800127	38800127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38800127G>T	ENST00000502213.2	-	3	555	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	TLR1_ENST00000308979.2_Missense_Mutation_p.S109Y			Q15399	TLR1_HUMAN	toll-like receptor 1	109					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S109F(1)|p.S109Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGGGTGGCAAGAAATCTTCAC	0.378																																					p.S109Y	GBM(5;216 373 40795 46382)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C326A	4						.						129.0	128.0	129.0					4																	38800127		2203	4300	6503	38476522	SO:0001583	missense	7096	exon4			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.326C>A	4.37:g.38800127G>T	ENSP00000421259:p.Ser109Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38476522	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	6.731	0.503606	0.12822	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940	T;T;T	0.19806	2.12;2.12;4.2	4.79	3.94	0.45596	.	0.438298	0.21684	N	0.070669	T	0.22627	0.0546	L	0.55103	1.725	0.29605	N	0.847378	B	0.31318	0.319	B	0.39935	0.314	T	0.13308	-1.0514	10	0.37606	T	0.19	.	5.7111	0.17935	0.1532:0.0:0.5862:0.2606	.	109	Q15399	TLR1_HUMAN	Y	109	ENSP00000354932:S109Y;ENSP00000421259:S109Y;ENSP00000421856:S109Y	ENSP00000354932:S109Y	S	-	2	0	TLR1	38476522	0.971000	0.33674	0.995000	0.50966	0.026000	0.11368	1.276000	0.33156	1.327000	0.45338	0.655000	0.94253	TCT		0.378	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
TLR6	10333	broad.mit.edu	37	4	38829844	38829844	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38829844A>G	ENST00000381950.1	-	1	1316	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	TLR6_ENST00000436693.2_Silent_p.S417S			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	417					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S417S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGTCTACCAGATTCCAAAG	0.363																																					p.S417S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1251C	4						.						97.0	104.0	101.0					4																	38829844		2203	4300	6503	38506239	SO:0001819	synonymous_variant	10333	exon2				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1251T>C	4.37:g.38829844A>G		Somatic		Capture	Illumina HiSeq	Phase_I	38506239	NM_006068	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	CCDS3446.1																																																																																				0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
TLR6	10333	broad.mit.edu	37	4	38830311	38830311	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38830311T>C	ENST00000381950.1	-	1	849	c.784A>G	c.(784-786)Act>Gct	p.T262A	TLR6_ENST00000436693.2_Missense_Mutation_p.T262A			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	262					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T262A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTTCCAAGTCGTTTCTATG	0.338																																					p.T262A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A784G	4						.						67.0	70.0	69.0					4																	38830311		2203	4300	6503	38506706	SO:0001583	missense	10333	exon2				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.784A>G	4.37:g.38830311T>C	ENSP00000371376:p.Thr262Ala	Somatic		Capture	Illumina HiSeq	Phase_I	38506706	NM_006068	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	5.560	0.288114	0.10513	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.39406	1.08;1.08	5.56	4.35	0.52113	.	0.351422	0.27060	N	0.021139	T	0.36276	0.0961	M	0.72479	2.2	0.27458	N	0.95323	B	0.20164	0.042	B	0.20955	0.032	T	0.32295	-0.9912	10	0.23302	T	0.38	.	3.7968	0.08743	0.0:0.183:0.1973:0.6197	.	262	Q9Y2C9	TLR6_HUMAN	A	262	ENSP00000389600:T262A;ENSP00000371376:T262A	ENSP00000371376:T262A	T	-	1	0	TLR6	38506706	0.000000	0.05858	0.999000	0.59377	0.485000	0.33311	-0.198000	0.09505	0.920000	0.36970	0.397000	0.26171	ACT		0.338	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
TLR6	10333	broad.mit.edu	37	4	38830681	38830681	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38830681G>A	ENST00000381950.1	-	1	479	c.414C>T	c.(412-414)atC>atT	p.I138I	TLR6_ENST00000436693.2_Silent_p.I138I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	138					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.I138I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCTTACAGATGGGCAGGG	0.383																																					p.I138I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	4						.						60.0	59.0	59.0					4																	38830681		2203	4300	6503	38507076	SO:0001819	synonymous_variant	10333	exon2				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.414C>T	4.37:g.38830681G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38507076	NM_006068	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	CCDS3446.1																																																																																				0.383	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
FAM114A1	92689	broad.mit.edu	37	4	38880018	38880018	+	Missense_Mutation	SNP	G	G	A	rs149201693		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38880018G>A	ENST00000358869.2	+	3	495	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	107						cytoplasm (GO:0005737)		p.E107K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGATCCGAAATACCCCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.0				p.E107K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	4						.	G	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	63.0	61.0	61.0		319	4.6	1.0	4	dbSNP_134	61	0,8598		0,0,4299	no	missense	FAM114A1	NM_138389.2	56	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	107/564	38880018	1,12999	2201	4299	6500	38556413	SO:0001583	missense	92689	exon3				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.319G>A	4.37:g.38880018G>A	ENSP00000351740:p.Glu107Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38556413	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314829	0.60524	2.27E-4	0.0	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.36340	1.26;2.75	4.61	4.61	0.57282	.	0.219720	0.45867	D	0.000330	T	0.35451	0.0932	M	0.68952	2.095	0.44976	D	0.997991	D	0.55385	0.971	B	0.38020	0.263	T	0.45056	-0.9287	10	0.56958	D	0.05	-14.6459	14.8012	0.69916	0.0:0.0:1.0:0.0	.	107	Q8IWE2	NXP20_HUMAN	K	107	ENSP00000422965:E107K;ENSP00000351740:E107K	ENSP00000351740:E107K	E	+	1	0	FAM114A1	38556413	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	5.276000	0.65580	2.546000	0.85860	0.491000	0.48974	GAA		0.493	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
TMEM156	80008	broad.mit.edu	37	4	38990598	38990598	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:38990598G>T	ENST00000381938.3	-	4	727					NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156							integral component of membrane (GO:0016021)		p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TATCTGTAAAGAAAACAAATA	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						50.0	52.0	51.0					4																	38990598		2200	4300	6500	38666993	SO:0001627	intron_variant	80008	.			AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.620-8C>A	4.37:g.38990598G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38666993	.	Q9H5N9	Intron	SNP	ENST00000381938.3	37	CCDS3448.1																																																																																				0.313	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
KLHL5	51088	broad.mit.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39083717C>T	ENST00000504108.1	+	4	1259	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLHL5_ENST00000359687.2_Missense_Mutation_p.R326C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R265C|KLHL5_ENST00000261425.3_Missense_Mutation_p.R280C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R326C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R139C	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	326						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R326C(3)|p.R326G(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTGGAATTCGTTCTTTTGC	0.393																																					p.R326C												.	.	4	Substitution - Missense(4)	large_intestine(3)|kidney(1)	c.C976T	4						.						204.0	193.0	197.0					4																	39083717		2203	4300	6503	38760112	SO:0001583	missense	51088	exon4			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.976C>T	4.37:g.39083717C>T	ENSP00000423897:p.Arg326Cys	Somatic		Capture	Illumina HiSeq	Phase_I	38760112	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058313	0.93846	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.45	5.45	0.79879	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.996	D	0.85224	0.1028	10	0.87932	D	0	.	19.6602	0.95864	0.0:1.0:0.0:0.0	.	265;326;326	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	C	360;280;139;326;326;326;265	ENSP00000261425:R280C;ENSP00000423080:R139C;ENSP00000423897:R326C;ENSP00000352716:R326C;ENSP00000371355:R326C;ENSP00000261426:R265C	ENSP00000261425:R280C	R	+	1	0	KLHL5	38760112	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.729000	0.93468	0.460000	0.39030	CGT		0.393	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
RFC1	5981	broad.mit.edu	37	4	39328261	39328261	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39328261C>A	ENST00000381897.1	-	6	698		c.e6-1		RFC1_ENST00000349703.2_Splice_Site|RFC1_ENST00000418436.1_Splice_Site	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa						DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.?(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTGTGAAAGCTATATTTCAA	0.343																																					.	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Unknown(1)	large_intestine(1)	.	4						.						82.0	76.0	78.0					4																	39328261		2203	4300	6503	39004656	SO:0001630	splice_region_variant	5981	.			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.565-1G>T	4.37:g.39328261C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39004656	.	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Splice_Site	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950695	0.34377	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1909	0.93666	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFC1	39004656	1.000000	0.71417	0.964000	0.40570	0.138000	0.21146	5.270000	0.65547	2.536000	0.85505	0.557000	0.71058	.		0.343	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	Intron
RFC1	5981	broad.mit.edu	37	4	39329269	39329269	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39329269T>G	ENST00000381897.1	-	5	572	c.439A>C	c.(439-441)Aac>Cac	p.N147H	RFC1_ENST00000349703.2_Missense_Mutation_p.N147H|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	147					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.N147H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTCTTAGTGTTTTCTTCATTC	0.338																																					p.N147H	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A439C	4						.						166.0	141.0	149.0					4																	39329269		2203	4300	6503	39005664	SO:0001583	missense	5981	exon5			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.439A>C	4.37:g.39329269T>G	ENSP00000371321:p.Asn147His	Somatic		Capture	Illumina HiSeq	Phase_I	39005664	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960286	0.34565	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.29917	1.55;1.55	5.64	4.45	0.53987	.	0.522516	0.24312	N	0.039631	T	0.42268	0.1195	L	0.54323	1.7	0.09310	N	1	D;D	0.57571	0.966;0.98	P;P	0.56700	0.641;0.804	T	0.23119	-1.0197	10	0.45353	T	0.12	-14.8865	11.0915	0.48119	0.138:0.0:0.0:0.862	.	147;147	P35251;P35251-2	RFC1_HUMAN;.	H	147;147;119	ENSP00000371321:N147H;ENSP00000261424:N147H	ENSP00000261424:N147H	N	-	1	0	RFC1	39005664	1.000000	0.71417	0.478000	0.27316	0.242000	0.25591	3.552000	0.53705	1.057000	0.40506	0.523000	0.50628	AAC		0.338	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RPL9	6133	broad.mit.edu	37	4	39458073	39458073	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39458073C>T	ENST00000449470.2	-	4	792	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000513731.1_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000261434.3_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.R115Q	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R115Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CAAGAAATTTCGGATTTCAAC	0.393																																					p.R115Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344A	4						.						41.0	42.0	42.0					4																	39458073		2203	4299	6502	39134468	SO:0001583	missense	6133	exon5			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.344G>A	4.37:g.39458073C>T	ENSP00000400467:p.Arg115Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39134468	NM_000661		Missense_Mutation	SNP	ENST00000449470.2	37	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470749	0.63625	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.66	3.95	0.45737	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	T	0.56615	0.1997	M	0.83012	2.62	0.58432	D	0.999995	P;B	0.40638	0.725;0.059	B;B	0.33960	0.113;0.173	T	0.60697	-0.7212	9	0.54805	T	0.06	.	11.4179	0.49962	0.0:0.8549:0.0:0.1451	.	115;115	B4DLV8;P32969	.;RL9_HUMAN	Q	115	.	ENSP00000346022:R115Q	R	-	2	0	RPL9	39134468	1.000000	0.71417	0.914000	0.36105	0.860000	0.49131	7.741000	0.84997	0.759000	0.33084	-0.258000	0.10820	CGA		0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
UGDH	7358	broad.mit.edu	37	4	39506037	39506037	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39506037C>A	ENST00000316423.6	-	10	1605	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	UGDH_ENST00000501493.2_Splice_Site_p.K354N|UGDH_ENST00000507089.1_Splice_Site_p.K324N|UGDH_ENST00000506179.1_Splice_Site_p.K421N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	421					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.K421N(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GTTACCTTACCTTAAACATGT	0.403																																					p.K354N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	4						.						99.0	90.0	93.0					4																	39506037		2203	4300	6503	39182432	SO:0001630	splice_region_variant	7358	exon9			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1263+1G>T	4.37:g.39506037C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39182432	NM_001184700	B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834625	0.71373	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.44	5.44	0.79542	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.79614	2.46	0.80722	D	1	P;B	0.42248	0.774;0.301	B;B	0.40982	0.345;0.159	T	0.81435	-0.0934	9	.	.	.	-0.8396	18.2765	0.90085	0.0:1.0:0.0:0.0	.	354;421	B3KUU2;O60701	.;UGDH_HUMAN	N	421;354;421;324	ENSP00000319501:K421N;ENSP00000422909:K354N;ENSP00000421757:K421N;ENSP00000426560:K324N	.	K	-	3	2	UGDH	39182432	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.411000	0.80078	2.546000	0.85860	0.650000	0.86243	AAG		0.403	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	Missense_Mutation
UGDH	7358	broad.mit.edu	37	4	39506118	39506118	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39506118G>A	ENST00000316423.6	-	10	1524	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	UGDH_ENST00000501493.2_Silent_p.L327L|UGDH_ENST00000507089.1_Silent_p.L297L|UGDH_ENST00000506179.1_Silent_p.L394L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	394					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.L394L(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AAATGGTCACGAGCCGGGACA	0.408																																					p.L327L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981T	4						.						82.0	72.0	75.0					4																	39506118		2203	4300	6503	39182513	SO:0001819	synonymous_variant	7358	exon9			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1182C>T	4.37:g.39506118G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39182513	NM_001184700	B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	CCDS3455.1																																																																																				0.408	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	
UBE2K	3093	broad.mit.edu	37	4	39739141	39739141	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39739141C>A	ENST00000261427.5	+	2	441				UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000438068.2_Intron|UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000445950.2_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)	p.?(1)		large_intestine(1)|lung(1)|ovary(2)	4						AAGGCAAGTACTTTTTTCTGT	0.308																																					.	NSCLC(101;689 1592 16105 29682 31745)											.	.	1	Unknown(1)	large_intestine(1)	.	4						.						47.0	49.0	49.0					4																	39739141		2203	4297	6500	39415536	SO:0001627	intron_variant	3093	.			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.157+8C>A	4.37:g.39739141C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39415536	.	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Intron	SNP	ENST00000261427.5	37	CCDS33976.1																																																																																				0.308	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339	
PDS5A	23244	broad.mit.edu	37	4	39868526	39868526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:39868526G>A	ENST00000303538.8	-	23	3136	c.2597C>T	c.(2596-2598)gCg>gTg	p.A866V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.A866V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AACCAACATCGCTGATAATAA	0.388																																					p.A866V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2597T	4						.						72.0	68.0	69.0					4																	39868526		1871	4118	5989	39544921	SO:0001583	missense	23244	exon23			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2597C>T	4.37:g.39868526G>A	ENSP00000303427:p.Ala866Val	Somatic		Capture	Illumina HiSeq	Phase_I	39544921	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682536	0.88542	.	.	ENSG00000121892	ENST00000303538	T	0.65364	-0.15	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.74881	2.28	0.80722	D	1	D	0.60575	0.988	P	0.56612	0.802	T	0.76329	-0.2999	9	.	.	.	-8.5539	19.4681	0.94951	0.0:0.0:1.0:0.0	.	866	Q29RF7	PDS5A_HUMAN	V	866	ENSP00000303427:A866V	.	A	-	2	0	PDS5A	39544921	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.864000	0.99589	2.581000	0.87130	0.655000	0.94253	GCG		0.388	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
N4BP2	55728	broad.mit.edu	37	4	40103911	40103911	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:40103911C>T	ENST00000261435.6	+	4	862	c.446C>T	c.(445-447)gCt>gTt	p.A149V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	149					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.A149V(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATACAGAATGCTTTTGAGAAA	0.338																																					p.A149V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	4						.						75.0	74.0	74.0					4																	40103911		2203	4300	6503	39780306	SO:0001583	missense	55728	exon4			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.446C>T	4.37:g.40103911C>T	ENSP00000261435:p.Ala149Val	Somatic		Capture	Illumina HiSeq	Phase_I	39780306	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511433	0.85389	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	D;D	0.81659	-1.52;-1.52	5.98	5.98	0.97165	.	0.483897	0.20683	N	0.087603	D	0.84902	0.5575	L	0.32530	0.975	0.32377	N	0.55504	D;D	0.76494	0.999;0.997	D;P	0.65323	0.934;0.861	D	0.86486	0.1794	10	0.72032	D	0.01	-20.8328	18.6172	0.91306	0.0:1.0:0.0:0.0	.	149;149	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	149;69;69	ENSP00000261435:A149V;ENSP00000422057:A69V	ENSP00000261435:A149V	A	+	2	0	N4BP2	39780306	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.404000	0.52623	2.837000	0.97791	0.591000	0.81541	GCT		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
NSUN7	79730	broad.mit.edu	37	4	40800906	40800906	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:40800906A>C	ENST00000381782.2	+	10	1880	c.1385A>C	c.(1384-1386)aAa>aCa	p.K462T	NSUN7_ENST00000316607.5_Missense_Mutation_p.K462T	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	462							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.K462T(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTGGGAATAAAGGACAACCT	0.313																																					p.K462T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1385C	4						.						77.0	76.0	76.0					4																	40800906		2202	4298	6500	40495663	SO:0001583	missense	79730	exon10			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1385A>C	4.37:g.40800906A>C	ENSP00000371201:p.Lys462Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40495663	NM_024677	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184657	0.57909	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.20463	2.89;2.07	5.12	5.12	0.69794	.	0.105777	0.64402	D	0.000007	T	0.31544	0.0800	L	0.50333	1.59	0.43130	D	0.994864	D;D	0.56521	0.959;0.976	P;P	0.52217	0.496;0.693	T	0.04165	-1.0972	10	0.52906	T	0.07	-22.3543	14.868	0.70430	1.0:0.0:0.0:0.0	.	462;462	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	T	462	ENSP00000371201:K462T;ENSP00000319127:K462T	ENSP00000319127:K462T	K	+	2	0	NSUN7	40495663	1.000000	0.71417	0.924000	0.36721	0.872000	0.50106	6.321000	0.72881	2.072000	0.62099	0.533000	0.62120	AAA		0.313	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677	
SLC30A9	10463	broad.mit.edu	37	4	42037301	42037301	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:42037301G>T	ENST00000264451.7	+	7	800	c.620G>T	c.(619-621)aGa>aTa	p.R207I		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	207					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R207I(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTATTTAGAAACCAAAAA	0.303																																					p.R207I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620T	4						.						54.0	59.0	57.0					4																	42037301		2198	4286	6484	41732058	SO:0001583	missense	10463	exon7			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.620G>T	4.37:g.42037301G>T	ENSP00000264451:p.Arg207Ile	Somatic		Capture	Illumina HiSeq	Phase_I	41732058	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942205	0.34283	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.57107	0.42	4.48	1.8	0.24995	.	0.256266	0.44285	D	0.000477	T	0.35624	0.0938	L	0.27053	0.805	0.80722	D	1	B	0.20368	0.044	B	0.21546	0.035	T	0.14200	-1.0481	10	0.49607	T	0.09	-1.1921	7.3916	0.26913	0.2981:0.0:0.7019:0.0	.	207	Q6PML9	ZNT9_HUMAN	I	207;35	ENSP00000264451:R207I	ENSP00000264451:R207I	R	+	2	0	SLC30A9	41732058	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.857000	0.27831	0.624000	0.30286	0.484000	0.47621	AGA		0.303	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
SLC30A9	10463	broad.mit.edu	37	4	42065036	42065036	+	Silent	SNP	G	G	A	rs143350504		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:42065036G>A	ENST00000264451.7	+	11	1110	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	310					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S310S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTTCTTCGCTAATTAGTG	0.348																																					p.S310S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	4						.	G		1,4405	2.1+/-5.4	0,1,2202	209.0	201.0	204.0		930	-5.7	0.8	4	dbSNP_134	204	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC30A9	NM_006345.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		310/569	42065036	3,13003	2203	4300	6503	41759793	SO:0001819	synonymous_variant	10463	exon11			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.930G>A	4.37:g.42065036G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41759793	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	CCDS3465.1																																																																																				0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
ATP8A1	10396	broad.mit.edu	37	4	42448667	42448667	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:42448667C>T	ENST00000381668.5	-	31	3128				ATP8A1_ENST00000264449.10_Intron|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGTACCTGTACGAAAAGGAGA	0.413																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	4						.						92.0	84.0	87.0					4																	42448667		2203	4300	6503	42143424	SO:0001627	intron_variant	10396	.			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2897-6G>A	4.37:g.42448667C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42143424	.	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Intron	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.413	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42545953	42545953	+	Missense_Mutation	SNP	C	C	T	rs147389955	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:42545953C>T	ENST00000381668.5	-	20	1934	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R553Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	568					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R553Q(1)|p.R568Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCAGTAGAGTCGTAACTTTCC	0.323																																					p.R568Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1703A	4						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	80.0	84.0		1658,1703	5.8	1.0	4	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	553/1150,568/1165	42545953	1,13005	2203	4300	6503	42240710	SO:0001583	missense	10396	exon20			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1703G>A	4.37:g.42545953C>T	ENSP00000371084:p.Arg568Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42240710	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298481	0.95574	2.27E-4	0.0	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.83335	-1.71;-1.71	5.82	5.82	0.92795	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;P	0.70227	0.968;0.93;0.862	D	0.91420	0.5158	10	0.51188	T	0.08	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	553;553;568	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Q	568;553	ENSP00000371084:R568Q;ENSP00000264449:R553Q	ENSP00000264449:R553Q	R	-	2	0	ATP8A1	42240710	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.864000	0.75494	2.753000	0.94483	0.557000	0.71058	CGA		0.323	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42596349	42596349	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:42596349C>A	ENST00000381668.5	-	7	682				ATP8A1_ENST00000264449.10_Missense_Mutation_p.G161C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G161C(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TACTCTTTGCCTTTTATTATA	0.358																																					p.G161C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481T	4						.						174.0	172.0	172.0					4																	42596349		1845	4083	5928	42291106	SO:0001627	intron_variant	10396	exon7			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.451-3448G>T	4.37:g.42596349C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42291106	NM_001105529	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419795	0.83559	.	.	ENSG00000124406	ENST00000264449	T	0.74842	-0.88	5.7	5.7	0.88788	.	.	.	.	.	T	0.69522	0.3120	N	0.02854	-0.475	0.80722	D	1	P	0.50617	0.937	P	0.57548	0.823	T	0.79035	-0.1968	9	0.72032	D	0.01	.	19.8201	0.96590	0.0:1.0:0.0:0.0	.	161	Q32M35	.	C	161	ENSP00000264449:G161C	ENSP00000264449:G161C	G	-	1	0	ATP8A1	42291106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.745000	0.74860	2.693000	0.91896	0.563000	0.77884	GGC		0.358	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
GABRG1	2565	broad.mit.edu	37	4	46066524	46066524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46066524C>T	ENST00000295452.4	-	5	726	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	187					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E187K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGATAACATTCTGCATTAATT	0.279																																					p.E187K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G559A	4						.						67.0	74.0	71.0					4																	46066524		2202	4291	6493	45761281	SO:0001583	missense	2565	exon5			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.559G>A	4.37:g.46066524C>T	ENSP00000295452:p.Glu187Lys	Somatic		Capture	Illumina HiSeq	Phase_I	45761281	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098429	0.94197	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79033	-1.23	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86875	0.2038	10	0.66056	D	0.02	.	19.14	0.93444	0.0:1.0:0.0:0.0	.	187	Q8N1C3	GBRG1_HUMAN	K	187	ENSP00000295452:E187K	ENSP00000295452:E187K	E	-	1	0	GABRG1	45761281	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.980000	0.70516	2.769000	0.95229	0.491000	0.48974	GAA		0.279	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GABRG1	2565	broad.mit.edu	37	4	46085994	46085994	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46085994C>A	ENST00000295452.4	-	3	489					NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.?(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTAATATTTCTTACTTACCA	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						35.0	34.0	34.0					4																	46085994		2193	4282	6475	45780751	SO:0001627	intron_variant	2565	.			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.321+8G>T	4.37:g.46085994C>A		Somatic		Capture	Illumina HiSeq	Phase_I	45780751	.	Q5H9T8	Intron	SNP	ENST00000295452.4	37	CCDS3470.1																																																																																				0.308	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GABRG1	2565	broad.mit.edu	37	4	46125846	46125846	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46125846T>C	ENST00000295452.4	-	1	252	c.85A>G	c.(85-87)Acc>Gcc	p.T29A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	29					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T29A(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATGCAGGGTCAGTAACAAG	0.413																																					p.T29A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A85G	4						.						75.0	79.0	78.0					4																	46125846		2203	4300	6503	45820603	SO:0001583	missense	2565	exon1			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.85A>G	4.37:g.46125846T>C	ENSP00000295452:p.Thr29Ala	Somatic		Capture	Illumina HiSeq	Phase_I	45820603	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	T	7.624	0.677420	0.14841	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.65549	-0.16	4.88	3.7	0.42460	.	1.038110	0.07550	N	0.915275	T	0.48607	0.1509	L	0.36672	1.1	0.25450	N	0.988011	B	0.02656	0.0	B	0.01281	0.0	T	0.36407	-0.9749	10	0.10377	T	0.69	.	7.1622	0.25671	0.0:0.1001:0.0:0.8999	.	29	Q8N1C3	GBRG1_HUMAN	A	29	ENSP00000295452:T29A	ENSP00000295452:T29A	T	-	1	0	GABRG1	45820603	0.992000	0.36948	0.989000	0.46669	0.330000	0.28571	0.948000	0.29096	1.010000	0.39314	0.460000	0.39030	ACC		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
COX7B2	170712	broad.mit.edu	37	4	46736955	46736955	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46736955C>T	ENST00000396533.1	-	0	505				COX7B2_ENST00000302930.5_3'UTR|COX7B2_ENST00000543208.1_3'UTR|COX7B2_ENST00000355591.3_3'UTR			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2							integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						ATTACAGCAACTGTGATGGTT	0.358																																					.												.	.	0			.	4						.						78.0	71.0	73.0					4																	46736955		2203	4300	6503	46431712	SO:0001624	3_prime_UTR_variant	170712	.			AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.*9G>A	4.37:g.46736955C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46431712	.	Q32Q40	3'UTR	SNP	ENST00000396533.1	37	CCDS3472.2																																																																																				0.358	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902	
GABRA4	2557	broad.mit.edu	37	4	46966986	46966986	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46966986C>T	ENST00000264318.3	-	8	2117		c.e8+1			NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4						central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTCAAATACCTGCAGAGGG	0.408																																					.	Ovarian(6;283 369 8234 12290 33402)											.	.	1	Unknown(1)	large_intestine(1)	.	4						.						67.0	74.0	71.0					4																	46966986		2202	4298	6500	46661743	SO:0001630	splice_region_variant	2557	.				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1134+1G>A	4.37:g.46966986C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46661743	.	Q8IYR7	Splice_Site	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270237	0.23221	.	.	ENSG00000109158	ENST00000264318	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4801	0.55837	0.0:0.8313:0.1687:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA4	46661743	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	1.948000	0.40303	2.481000	0.83766	0.591000	0.81541	.		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		Intron
GABRA4	2557	broad.mit.edu	37	4	46967223	46967223	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:46967223T>C	ENST00000264318.3	-	8	1880	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	300					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T300A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTAGTGTGGTCATGGTGAGG	0.438																																					p.T300A	Ovarian(6;283 369 8234 12290 33402)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A898G	4						.						168.0	133.0	145.0					4																	46967223		2203	4300	6503	46661980	SO:0001583	missense	2557	exon8				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.898A>G	4.37:g.46967223T>C	ENSP00000264318:p.Thr300Ala	Somatic		Capture	Illumina HiSeq	Phase_I	46661980	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533107	0.85812	.	.	ENSG00000109158	ENST00000264318	D	0.93133	-3.17	4.66	4.66	0.58398	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.122005	0.53938	D	0.000042	D	0.95430	0.8516	L	0.58354	1.805	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	D	0.95806	0.8837	10	0.87932	D	0	.	13.4301	0.61051	0.0:0.0:0.0:1.0	.	300	P48169	GBRA4_HUMAN	A	300	ENSP00000264318:T300A	ENSP00000264318:T300A	T	-	1	0	GABRA4	46661980	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.868000	0.87116	1.944000	0.56390	0.482000	0.46254	ACC		0.438	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GABRB1	2560	broad.mit.edu	37	4	47322224	47322224	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47322224G>T	ENST00000295454.3	+	5	834	c.542G>T	c.(541-543)aGt>aTt	p.S181I	GABRB1_ENST00000538619.1_Missense_Mutation_p.S111I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	181	Agonist binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.S181I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGATCGAAAGTTGTGAGTTA	0.433																																					p.S181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542T	4						.						109.0	95.0	99.0					4																	47322224		2203	4300	6503	47016981	SO:0001583	missense	2560	exon5				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.542G>T	4.37:g.47322224G>T	ENSP00000295454:p.Ser181Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47016981	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660929	0.88154	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86769	-2.17;-2.17	4.98	4.98	0.66077	Neurotransmitter-gated ion-channel ligand-binding (3);	0.376195	0.26380	N	0.024708	D	0.95909	0.8668	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.996	D	0.97222	0.9878	10	0.87932	D	0	-14.1449	15.771	0.78167	0.0:0.0:1.0:0.0	.	111;181	F5GXV5;P18505	.;GBRB1_HUMAN	I	181;111	ENSP00000295454:S181I;ENSP00000440330:S111I	ENSP00000295454:S181I	S	+	2	0	GABRB1	47016981	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.091000	0.94151	2.585000	0.87301	0.585000	0.79938	AGT		0.433	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
GABRB1	2560	broad.mit.edu	37	4	47408849	47408849	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47408849A>G	ENST00000295454.3	+	8	1278	c.986A>G	c.(985-987)tAc>tGc	p.Y329C	GABRB1_ENST00000538619.1_Missense_Mutation_p.Y259C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	329					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.Y329C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGTAAATTACATCTTCTTT	0.423																																					p.Y329C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A986G	4						.						164.0	160.0	161.0					4																	47408849		2203	4300	6503	47103606	SO:0001583	missense	2560	exon8				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.986A>G	4.37:g.47408849A>G	ENSP00000295454:p.Tyr329Cys	Somatic		Capture	Illumina HiSeq	Phase_I	47103606	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963873	0.74131	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.87966	-2.32;-2.32	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.203312	0.33553	N	0.004786	D	0.94059	0.8096	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.87578	0.791;0.998	D	0.95091	0.8222	10	0.87932	D	0	-13.8888	14.0816	0.64925	1.0:0.0:0.0:0.0	.	259;329	F5GXV5;P18505	.;GBRB1_HUMAN	C	329;259	ENSP00000295454:Y329C;ENSP00000440330:Y259C	ENSP00000295454:Y329C	Y	+	2	0	GABRB1	47103606	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	1.995000	0.58328	0.383000	0.25322	TAC		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
ATP10D	57205	broad.mit.edu	37	4	47514823	47514823	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47514823G>T	ENST00000273859.3	+	2	535	c.266G>T	c.(265-267)aGa>aTa	p.R89I	ATP10D_ENST00000504445.1_Missense_Mutation_p.R89I	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	89					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R89I(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTGTGCCAAGAAATTTATTT	0.328																																					p.R89I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G266T	4						.						63.0	68.0	66.0					4																	47514823		2203	4300	6503	47209580	SO:0001583	missense	57205	exon2			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.266G>T	4.37:g.47514823G>T	ENSP00000273859:p.Arg89Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47209580	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594882	0.66219	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.81078	-1.45;-1.45	5.44	5.44	0.79542	.	0.056934	0.64402	D	0.000003	D	0.82953	0.5149	L	0.48260	1.515	0.48135	D	0.999592	P;P	0.49961	0.93;0.866	P;P	0.51170	0.564;0.661	D	0.84381	0.0549	10	0.66056	D	0.02	-21.2124	18.6067	0.91268	0.0:0.0:1.0:0.0	.	89;89	Q9P241;Q6PEW3	AT10D_HUMAN;.	I	89	ENSP00000273859:R89I;ENSP00000420909:R89I	ENSP00000273859:R89I	R	+	2	0	ATP10D	47209580	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	6.737000	0.74816	2.698000	0.92095	0.650000	0.86243	AGA		0.328	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
ATP10D	57205	broad.mit.edu	37	4	47556863	47556863	+	Missense_Mutation	SNP	G	G	A	rs561130132		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47556863G>A	ENST00000273859.3	+	11	2025	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	586					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D586N(2)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTACATTATCGACTTTTTCAT	0.413																																					p.D586N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1756A	4						.						118.0	117.0	117.0					4																	47556863		2203	4300	6503	47251620	SO:0001583	missense	57205	exon11			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1756G>A	4.37:g.47556863G>A	ENSP00000273859:p.Asp586Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47251620	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004461	0.74932	.	.	ENSG00000145246	ENST00000273859	T	0.64260	-0.09	5.19	5.19	0.71726	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.059108	0.64402	D	0.000003	T	0.80314	0.4600	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82548	-0.0402	10	0.72032	D	0.01	-24.2762	18.0879	0.89463	0.0:0.0:1.0:0.0	.	586	Q9P241	AT10D_HUMAN	N	586	ENSP00000273859:D586N	ENSP00000273859:D586N	D	+	1	0	ATP10D	47251620	1.000000	0.71417	0.955000	0.39395	0.046000	0.14306	9.779000	0.99018	2.565000	0.86533	0.655000	0.94253	GAC		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
ATP10D	57205	broad.mit.edu	37	4	47560276	47560276	+	Missense_Mutation	SNP	C	C	T	rs145762869		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47560276C>T	ENST00000273859.3	+	12	2689	c.2420C>T	c.(2419-2421)tCg>tTg	p.S807L	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	807					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S807L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGTTACTGTCGGTGGCTTCC	0.403																																					p.S807L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2420T	4						.	C	LEU/SER	0,4406		0,0,2203	107.0	106.0	106.0		2420	4.7	0.7	4	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP10D	NM_020453.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	807/1427	47560276	1,13005	2203	4300	6503	47255033	SO:0001583	missense	57205	exon12			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2420C>T	4.37:g.47560276C>T	ENSP00000273859:p.Ser807Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47255033	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	2.681	-0.275407	0.05679	0.0	1.16E-4	ENSG00000145246	ENST00000273859	D	0.84298	-1.83	4.65	4.65	0.58169	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.264693	0.35320	N	0.003281	T	0.79161	0.4399	L	0.54965	1.715	0.19945	N	0.999941	B	0.25719	0.132	B	0.18561	0.022	T	0.64837	-0.6313	10	0.25751	T	0.34	-15.7285	10.0999	0.42497	0.1519:0.701:0.1472:0.0	.	807	Q9P241	AT10D_HUMAN	L	807	ENSP00000273859:S807L	ENSP00000273859:S807L	S	+	2	0	ATP10D	47255033	0.085000	0.21516	0.654000	0.29608	0.005000	0.04900	3.697000	0.54764	2.578000	0.87016	0.561000	0.74099	TCG		0.403	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
ATP10D	57205	broad.mit.edu	37	4	47570890	47570890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47570890G>T	ENST00000273859.3	+	16	3159	c.2890G>T	c.(2890-2892)Gaa>Taa	p.E964*		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	964					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E964*(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTTGAAAGAACTTCAGAA	0.493																																					p.E964X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2890T	4						.						70.0	73.0	72.0					4																	47570890		2203	4300	6503	47265647	SO:0001587	stop_gained	57205	exon16			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2890G>T	4.37:g.47570890G>T	ENSP00000273859:p.Glu964*	Somatic		Capture	Illumina HiSeq	Phase_I	47265647	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204445	0.99099	.	.	ENSG00000145246	ENST00000273859	.	.	.	6.07	6.07	0.98685	.	0.235583	0.42682	D	0.000670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.9259	16.0125	0.80411	0.0:0.0:0.8653:0.1347	.	.	.	.	X	964	.	ENSP00000273859:E964X	E	+	1	0	ATP10D	47265647	1.000000	0.71417	0.984000	0.44739	0.591000	0.36615	4.210000	0.58500	2.884000	0.98904	0.655000	0.94253	GAA		0.493	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
CORIN	10699	broad.mit.edu	37	4	47625592	47625592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47625592C>T	ENST00000273857.4	-	19	2535	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	CORIN_ENST00000508498.1_Missense_Mutation_p.E707K|CORIN_ENST00000515827.1_5'Flank|CORIN_ENST00000505909.1_Missense_Mutation_p.E809K|CORIN_ENST00000502252.1_Missense_Mutation_p.E779K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	846	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.E846K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCTTACCCCTCGAAGCAGTGG	0.502																																					p.E846K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2536A	4						.						89.0	86.0	87.0					4																	47625592		2203	4300	6503	47320349	SO:0001583	missense	10699	exon19			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2536G>A	4.37:g.47625592C>T	ENSP00000273857:p.Glu846Lys	Somatic		Capture	Illumina HiSeq	Phase_I	47320349	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411049	0.62399	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	N	0.05574	-0.02	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67900	0.941;0.954	D	0.87665	0.2537	10	0.27785	T	0.31	.	18.9577	0.92665	0.0:1.0:0.0:0.0	.	779;846	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	K	846;707;779;809	ENSP00000273857:E846K;ENSP00000425597:E707K;ENSP00000424212:E779K;ENSP00000425401:E809K	ENSP00000273857:E846K	E	-	1	0	CORIN	47320349	1.000000	0.71417	0.983000	0.44433	0.626000	0.37791	5.458000	0.66679	2.539000	0.85634	0.585000	0.79938	GAG		0.502	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CORIN	10699	broad.mit.edu	37	4	47625750	47625750	+	Missense_Mutation	SNP	C	C	T	rs143333327	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47625750C>T	ENST00000273857.4	-	19	2377	c.2378G>A	c.(2377-2379)cGc>cAc	p.R793H	CORIN_ENST00000508498.1_Missense_Mutation_p.R654H|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.R756H|CORIN_ENST00000502252.1_Missense_Mutation_p.R726H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	793	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.R793H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGCAGCAGGGCGGCGCCCACA	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		19625	0.001		0.001	False		,,,				2504	0.0				p.R793H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2378A	4						.	C	HIS/ARG	0,4406		0,0,2203	83.0	83.0	83.0		2378	5.2	1.0	4	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	CORIN	NM_006587.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	793/1043	47625750	1,13005	2203	4300	6503	47320507	SO:0001583	missense	10699	exon19			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2378G>A	4.37:g.47625750C>T	ENSP00000273857:p.Arg793His	Somatic		Capture	Illumina HiSeq	Phase_I	47320507	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	32	5.180425	0.94846	0.0	1.16E-4	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.60548	0.18;0.18;0.18;0.56	5.25	5.25	0.73442	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.78314	0.991;0.799	T	0.79955	-0.1585	10	0.49607	T	0.09	.	19.2089	0.93746	0.0:1.0:0.0:0.0	.	726;793	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	H	793;654;726;756	ENSP00000273857:R793H;ENSP00000425597:R654H;ENSP00000424212:R726H;ENSP00000425401:R756H	ENSP00000273857:R793H	R	-	2	0	CORIN	47320507	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.719000	0.54926	2.611000	0.88343	0.585000	0.79938	CGC		0.532	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CORIN	10699	broad.mit.edu	37	4	47628537	47628537	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47628537C>A	ENST00000273857.4	-	17	2199	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	CORIN_ENST00000508498.1_Splice_Site_p.E595*|CORIN_ENST00000515827.1_Intron|CORIN_ENST00000505909.1_Splice_Site_p.E697*|CORIN_ENST00000502252.1_Splice_Site_p.E667*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	734	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.E734*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACAGATGGTTCTCTGATACAA	0.413																																					p.E734X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2200T	4						.						135.0	129.0	131.0					4																	47628537		2203	4300	6503	47323294	SO:0001630	splice_region_variant	10699	exon17			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2199-1G>T	4.37:g.47628537C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47323294	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Nonsense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640736	0.96693	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	.	.	.	5.26	4.41	0.53225	.	0.558813	0.18753	N	0.132134	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.4903	0.67647	0.0:0.8538:0.1462:0.0	.	.	.	.	X	734;595;667;697	.	ENSP00000273857:E734X	E	-	1	0	CORIN	47323294	0.970000	0.33590	0.936000	0.37596	0.037000	0.13140	1.479000	0.35453	1.438000	0.47492	0.650000	0.86243	GAA		0.413	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		Nonsense_Mutation
CORIN	10699	broad.mit.edu	37	4	47765553	47765553	+	Missense_Mutation	SNP	C	C	T	rs200249247		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47765553C>T	ENST00000273857.4	-	4	459	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CORIN_ENST00000504584.1_Missense_Mutation_p.A154T|CORIN_ENST00000508498.1_Missense_Mutation_p.A15T|CORIN_ENST00000505909.1_Missense_Mutation_p.A154T|CORIN_ENST00000502252.1_Missense_Mutation_p.A87T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	154	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A154T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTCAGCGTGGCGTGGTAGGGC	0.453																																					p.A154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	4						.						141.0	134.0	137.0					4																	47765553		2203	4300	6503	47460310	SO:0001583	missense	10699	exon4			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.460G>A	4.37:g.47765553C>T	ENSP00000273857:p.Ala154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47460310	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.068877	0.00382	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.99	-2.44	0.06502	Frizzled domain (5);	0.439498	0.22500	N	0.059251	T	0.29556	0.0737	N	0.00652	-1.29	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	T	0.42447	-0.9451	10	0.02654	T	1	.	4.5175	0.11943	0.3072:0.1875:0.0:0.5053	.	154;154;87;15;154	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	T	154;15;87;154;154	ENSP00000273857:A154T;ENSP00000425597:A15T;ENSP00000424212:A87T;ENSP00000425401:A154T;ENSP00000423216:A154T	ENSP00000273857:A154T	A	-	1	0	CORIN	47460310	0.998000	0.40836	0.005000	0.12908	0.000000	0.00434	0.640000	0.24705	-0.957000	0.03627	-4.319000	0.00007	GCC		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
NFXL1	152518	broad.mit.edu	37	4	47899976	47899976	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:47899976A>T	ENST00000507489.1	-	9	1381				NFXL1_ENST00000329043.3_Intron|NFXL1_ENST00000381538.3_Intron	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AAAAAAAACAAGTCTTACTTG	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						44.0	43.0	43.0					4																	47899976		2203	4300	6503	47594733	SO:0001627	intron_variant	152518	.			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1204+7T>A	4.37:g.47899976A>T		Somatic		Capture	Illumina HiSeq	Phase_I	47594733	.	B1Q2K1|Q86VG1|Q8WVH1	Intron	SNP	ENST00000507489.1	37	CCDS3478.2																																																																																				0.368	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	
TEC	7006	broad.mit.edu	37	4	48151601	48151601	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:48151601T>C	ENST00000381501.3	-	11	1136	c.979A>G	c.(979-981)Att>Gtt	p.I327V	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	327	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I327V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGATATTCAATAATCTCAGGA	0.343																																					p.I327V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A979G	4						.						177.0	170.0	172.0					4																	48151601		2203	4300	6503	47846358	SO:0001583	missense	7006	exon11			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.979A>G	4.37:g.48151601T>C	ENSP00000370912:p.Ile327Val	Somatic		Capture	Illumina HiSeq	Phase_I	47846358	NM_003215	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472416	0.63737	.	.	ENSG00000135605	ENST00000381501	D	0.91631	-2.88	5.8	5.8	0.92144	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	L	0.53671	1.685	0.58432	D	0.99999	P	0.47191	0.891	P	0.49276	0.605	D	0.89808	0.3980	10	0.18710	T	0.47	.	16.1606	0.81704	0.0:0.0:0.0:1.0	.	327	P42680	TEC_HUMAN	V	327	ENSP00000370912:I327V	ENSP00000370912:I327V	I	-	1	0	TEC	47846358	1.000000	0.71417	0.993000	0.49108	0.287000	0.27160	5.154000	0.64894	2.227000	0.72691	0.460000	0.39030	ATT		0.343	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		
FRYL	285527	broad.mit.edu	37	4	48525088	48525088	+	Missense_Mutation	SNP	G	G	A	rs560681341		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:48525088G>A	ENST00000503238.1	-	51	7350	c.7351C>T	c.(7351-7353)Cgc>Tgc	p.R2451C	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.R2451C|FRYL_ENST00000358350.4_Missense_Mutation_p.R2451C|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R2451C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGCGCCTGCGAACTCCCCAG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		17779	0.0		0.0	False		,,,				2504	0.001				p.R2451C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7351T	4						.						94.0	94.0	94.0					4																	48525088		1878	4122	6000	48219845	SO:0001583	missense	285527	exon54			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7351C>T	4.37:g.48525088G>A	ENSP00000426064:p.Arg2451Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48219845	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.532716|4.532716	0.85812|0.85812	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	5.62|5.62	4.76|4.76	0.60689|0.60689	.|.	0.055562|.	0.64402|.	D|.	0.000001|.	T|T	0.72220|0.72220	0.3433|0.3433	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.72982|.	0.549;0.953;0.979|.	T|T	0.72083|0.72083	-0.4397|-0.4397	10|5	0.66056|.	D|.	0.02|.	.|.	15.743|15.743	0.77918|0.77918	0.0:0.0:0.8624:0.1376|0.0:0.0:0.8624:0.1376	.|.	1281;2451;2451|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	C|L	2451|1320	ENSP00000426064:R2451C;ENSP00000351113:R2451C;ENSP00000441114:R2451C|.	ENSP00000351113:R2451C|.	R|S	-|-	1|2	0|0	FRYL|FRYL	48219845|48219845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.869000|9.869000	0.99810|0.99810	1.331000|1.331000	0.45412|0.45412	0.460000|0.460000	0.39030|0.39030	CGC|TCG		0.458	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
OCIAD2	132299	broad.mit.edu	37	4	48887497	48887497	+	3'UTR	SNP	G	G	T	rs373172740		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:48887497G>T	ENST00000508632.1	-	0	701				OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_3'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2							endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CACAGACACAGAATTTAGGAA	0.353																																					.												.	.	0			.	4						.	G	,	0,4406		0,0,2203	167.0	167.0	167.0		,	-0.1	0.0	4		167	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3	OCIAD2	NM_001014446.1,NM_152398.2	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	,	48887497	1,13005	2203	4300	6503	48582254	SO:0001624	3_prime_UTR_variant	132299	.			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.*4C>A	4.37:g.48887497G>T		Somatic		Capture	Illumina HiSeq	Phase_I	48582254	.	B4DPE7|Q8N544	3'UTR	SNP	ENST00000508632.1	37	CCDS33981.1																																																																																				0.353	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398	
CWH43	80157	broad.mit.edu	37	4	48994006	48994006	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:48994006G>A	ENST00000226432.4	+	4	593	c.410G>A	c.(409-411)cGc>cAc	p.R137H	CWH43_ENST00000513409.1_Missense_Mutation_p.R110H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	137					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.R137H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTGTTCTACGCATATGGTAT	0.373																																					p.R137H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	4						.						189.0	171.0	177.0					4																	48994006		2203	4300	6503	48688763	SO:0001583	missense	80157	exon4				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.410G>A	4.37:g.48994006G>A	ENSP00000226432:p.Arg137His	Somatic		Capture	Illumina HiSeq	Phase_I	48688763	NM_025087	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179912	0.78564	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52295	1.26;0.67	5.42	4.58	0.56647	.	0.000000	0.56097	D	0.000021	T	0.65015	0.2651	M	0.67953	2.075	0.39571	D	0.969276	D	0.89917	1.0	D	0.91635	0.999	T	0.67639	-0.5619	9	.	.	.	.	12.8683	0.57951	0.075:0.0:0.925:0.0	.	137	Q9H720	PG2IP_HUMAN	H	137;110	ENSP00000226432:R137H;ENSP00000422802:R110H	.	R	+	2	0	CWH43	48688763	0.874000	0.30092	0.997000	0.53966	0.976000	0.68499	3.520000	0.53465	1.531000	0.49152	0.491000	0.48974	CGC		0.373	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
LRRC66	339977	broad.mit.edu	37	4	52861201	52861201	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:52861201C>A	ENST00000343457.3	-	4	1993	c.1987G>T	c.(1987-1989)Gac>Tac	p.D663Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	663						integral component of membrane (GO:0016021)		p.D663Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGCCTGTGTCTCTTGGGTCA	0.547																																					p.D663Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1987T	4						.						81.0	80.0	80.0					4																	52861201		2007	4165	6172	52555958	SO:0001583	missense	339977	exon4			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1987G>T	4.37:g.52861201C>A	ENSP00000341944:p.Asp663Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52555958	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340810	0.24339	.	.	ENSG00000188993	ENST00000343457	T	0.37235	1.21	3.93	-0.114	0.13564	.	1.169730	0.06419	N	0.721988	T	0.22820	0.0551	L	0.27053	0.805	0.09310	N	1	B	0.25563	0.129	B	0.16289	0.015	T	0.26849	-1.0091	10	0.72032	D	0.01	-0.0195	3.4658	0.07549	0.1574:0.4017:0.3456:0.0953	.	663	Q68CR7	LRC66_HUMAN	Y	663	ENSP00000341944:D663Y	ENSP00000341944:D663Y	D	-	1	0	LRRC66	52555958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-0.191000	0.10448	-0.211000	0.12701	GAC		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
SGCB	6443	broad.mit.edu	37	4	52895019	52895019	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:52895019G>A	ENST00000381431.5	-	4	720	c.498C>T	c.(496-498)atC>atT	p.I166I	SGCB_ENST00000535450.1_Silent_p.I96I	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	166	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.I166I(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACTGCATGCCGATGTCACTTG	0.343																																					p.I166I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	4						.						75.0	74.0	74.0					4																	52895019		2203	4300	6503	52589776	SO:0001819	synonymous_variant	6443	exon4			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.498C>T	4.37:g.52895019G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52589776	NM_000232	B7Z635|O00661	Silent	SNP	ENST00000381431.5	37	CCDS3488.1																																																																																				0.343	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
SPATA18	132671	broad.mit.edu	37	4	52944896	52944896	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:52944896T>C	ENST00000295213.4	+	8	1394				SPATA18_ENST00000419395.2_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATTTTTATGTGCAGGAGGCA	0.393																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	4						.						106.0	95.0	99.0					4																	52944896		2203	4300	6503	52639653	SO:0001627	intron_variant	132671	.			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1021-5T>C	4.37:g.52944896T>C		Somatic		Capture	Illumina HiSeq	Phase_I	52639653	.	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Intron	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.393	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
SPATA18	132671	broad.mit.edu	37	4	52946092	52946092	+	Intron	SNP	G	G	T	rs201158542		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:52946092G>T	ENST00000295213.4	+	9	1729				SPATA18_ENST00000419395.2_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCAAGTAAGAGACACAGGAGC	0.393																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	4						.						123.0	119.0	120.0					4																	52946092		2203	4300	6503	52640849	SO:0001627	intron_variant	132671	.			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1355+7G>T	4.37:g.52946092G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52640849	.	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Intron	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.393	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
SCFD2	152579	broad.mit.edu	37	4	53740198	53740198	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:53740198G>A	ENST00000401642.3	-	9	2126	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	SCFD2_ENST00000388940.4_Missense_Mutation_p.P620S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	665					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.P665S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGTTAAGTGGCTTCAGGAGT	0.498																																					p.P665S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1993T	4						.						132.0	115.0	121.0					4																	53740198		2203	4300	6503	53434955	SO:0001583	missense	152579	exon9			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1993C>T	4.37:g.53740198G>A	ENSP00000384182:p.Pro665Ser	Somatic		Capture	Illumina HiSeq	Phase_I	53434955	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395832	0.62177	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80738	-1.41;-1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88357	0.2985	10	0.46703	T	0.11	.	17.7481	0.88426	0.0:0.0:1.0:0.0	.	620;665	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	S	665;620	ENSP00000384182:P665S;ENSP00000373592:P620S	ENSP00000373592:P620S	P	-	1	0	SCFD2	53434955	1.000000	0.71417	0.990000	0.47175	0.049000	0.14656	6.493000	0.73658	2.508000	0.84585	0.655000	0.94253	CCA		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
SCFD2	152579	broad.mit.edu	37	4	54179905	54179905	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:54179905C>T	ENST00000401642.3	-	3	1166	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SCFD2_ENST00000388940.4_Missense_Mutation_p.E345K	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	345					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.E345K(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTAAAGCTTCCCATAGGGCT	0.423																																					p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	4						.						132.0	110.0	117.0					4																	54179905		2203	4300	6503	53874662	SO:0001583	missense	152579	exon3			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1033G>A	4.37:g.54179905C>T	ENSP00000384182:p.Glu345Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53874662	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802312	0.50315	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78924	-1.22;-1.22	5.8	5.8	0.92144	.	0.177521	0.47852	D	0.000209	T	0.79741	0.4498	M	0.65975	2.015	0.80722	D	1	P;P	0.45902	0.868;0.792	B;B	0.44163	0.443;0.197	T	0.78679	-0.2110	10	0.35671	T	0.21	.	18.8252	0.92115	0.0:1.0:0.0:0.0	.	345;345	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	K	345	ENSP00000384182:E345K;ENSP00000373592:E345K	ENSP00000373592:E345K	E	-	1	0	SCFD2	53874662	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.128000	0.77217	2.758000	0.94735	0.561000	0.74099	GAA		0.423	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
FIP1L1	81608	broad.mit.edu	37	4	54324954	54324954	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:54324954G>A	ENST00000337488.6	+	17	1828	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R471Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R539Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	545	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R545Q(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGTCTTCTCGAAGGTTTGCT	0.403			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.R539Q			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616A	4						.						71.0	83.0	79.0					4																	54324954		2202	4300	6502	54019711	SO:0001583	missense	81608	exon17			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1634G>A	4.37:g.54324954G>A	ENSP00000336752:p.Arg545Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54019711	NM_001134937	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546319	0.65198	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	D;D;D	0.93906	-3.21;-3.21;-3.31	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000012	D	0.95220	0.8450	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.69078	0.996;0.993;0.997;0.994	P;P;D;P	0.66847	0.855;0.72;0.947;0.885	D	0.95429	0.8514	10	0.72032	D	0.01	-9.8944	16.8596	0.86014	0.0:0.0:1.0:0.0	.	539;539;471;545	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	Q	545;539;471;205	ENSP00000336752:R545Q;ENSP00000351383:R539Q;ENSP00000302993:R471Q	ENSP00000302993:R471Q	R	+	2	0	FIP1L1	54019711	1.000000	0.71417	0.994000	0.49952	0.051000	0.14879	7.280000	0.78610	2.706000	0.92434	0.591000	0.81541	CGA		0.403	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
LNX1	84708	broad.mit.edu	37	4	54373570	54373570	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:54373570A>G	ENST00000263925.7	-	4	1003	c.689T>C	c.(688-690)gTt>gCt	p.V230A	LNX1-AS1_ENST00000511989.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.V134A|LNX1-AS1_ENST00000514364.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	230	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V134A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTTCGAAGAACACTCAAAGC	0.468																																					p.V230A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T689C	4						.						104.0	100.0	101.0					4																	54373570		2203	4300	6503	54068327	SO:0001583	missense	84708	exon4			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.689T>C	4.37:g.54373570A>G	ENSP00000263925:p.Val230Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54068327	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.260229	0.39995	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08102	3.13;4.59	5.13	1.46	0.22682	.	0.175822	0.49916	N	0.000132	T	0.04861	0.0131	N	0.24115	0.695	0.43207	D	0.995061	B;B	0.16603	0.007;0.018	B;B	0.14578	0.009;0.011	T	0.41645	-0.9497	10	0.10636	T	0.68	.	9.3344	0.38040	0.8383:0.0:0.1617:0.0	.	230;134	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	A	134;68;230	ENSP00000302879:V134A;ENSP00000263925:V230A	ENSP00000263925:V230A	V	-	2	0	LNX1	54068327	1.000000	0.71417	0.937000	0.37676	0.936000	0.57629	3.453000	0.52978	0.112000	0.17975	0.454000	0.30748	GTT		0.468	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
CHIC2	26511	broad.mit.edu	37	4	54876267	54876267	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:54876267C>A	ENST00000263921.3	-	6	882	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.D146Y	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	165						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)		p.D165Y(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AAATGCTAATCTGGTCGAAAA	0.338			T	ETV6	AML																																p.D165Y			Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493T	4						.						53.0	55.0	54.0					4																	54876267		2203	4300	6503	54571024	SO:0001583	missense	26511	exon6			AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.493G>T	4.37:g.54876267C>A	ENSP00000263921:p.Asp165Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54571024	NM_012110	B2R639	Missense_Mutation	SNP	ENST00000263921.3	37	CCDS3493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.050758|4.050758	0.75960|0.75960	.|.	.|.	ENSG00000109220|ENSG00000109220	ENST00000263921;ENST00000512964|ENST00000510894	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77170|0.77170	0.4091|0.4091	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74023|.	0.982|.	T|T	0.74578|0.74578	-0.3619|-0.3619	9|5	0.87932|.	D|.	0|.	.|.	20.2527|20.2527	0.98410|0.98410	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q9UKJ5|.	CHIC2_HUMAN|.	Y|I	165;146|136	.|.	ENSP00000263921:D165Y|.	D|R	-|-	1|2	0|0	CHIC2|CHIC2	54571024|54571024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.120000|7.120000	0.77153|0.77153	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.338	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2		
GSX2	170825	broad.mit.edu	37	4	54966586	54966586	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:54966586G>A	ENST00000326902.2	+	1	389	c.75G>A	c.(73-75)ccG>ccA	p.P25P	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.P25P	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	25					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P25P(1)		endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TGCCTGAACCGCACCCCGGGC	0.667																																					p.P25P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	4						.						44.0	38.0	40.0					4																	54966586		2203	4300	6503	54661343	SO:0001819	synonymous_variant	170825	exon1				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.75G>A	4.37:g.54966586G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54661343	NM_133267		Silent	SNP	ENST00000326902.2	37	CCDS3494.1																																																																																				0.667	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267	
PDGFRA	5156	broad.mit.edu	37	4	55127268	55127268	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55127268G>T	ENST00000257290.5	+	3	387	c.56G>T	c.(55-57)aGc>aTc	p.S19I	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.S19I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	19					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S19I(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GCAGGGCTGAGCCTAATCCTC	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.S19I	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G56T	4						.						92.0	89.0	90.0					4																	55127268		2203	4300	6503	54822025	SO:0001583	missense	5156	exon3	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.56G>T	4.37:g.55127268G>T	ENSP00000257290:p.Ser19Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54822025	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062578	0.36373	.	.	ENSG00000134853	ENST00000257290;ENST00000508170;ENST00000512143;ENST00000503856;ENST00000504461;ENST00000512522	T;T;T;T;T;T	0.74842	-0.88;1.58;1.76;1.44;1.44;2.32	5.97	5.97	0.96955	Immunoglobulin-like (1);	0.717676	0.11450	U	0.562884	T	0.58892	0.2154	N	0.08118	0	0.21064	N	0.999793	B;B	0.22983	0.019;0.078	B;B	0.24541	0.002;0.054	T	0.43327	-0.9398	10	0.22109	T	0.4	.	16.0409	0.80680	0.0:0.0:0.8578:0.1422	.	19;19	P16234;P16234-2	PGFRA_HUMAN;.	I	19;19;44;19;19;19	ENSP00000257290:S19I;ENSP00000425648:S19I;ENSP00000425626:S44I;ENSP00000425902:S19I;ENSP00000426472:S19I;ENSP00000425232:S19I	ENSP00000257290:S19I	S	+	2	0	PDGFRA	54822025	0.998000	0.40836	0.709000	0.30452	0.106000	0.19336	4.177000	0.58276	2.835000	0.97688	0.591000	0.81541	AGC		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55127461	55127461	+	Silent	SNP	G	G	A	rs569343676		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55127461G>A	ENST00000257290.5	+	3	580	c.249G>A	c.(247-249)acG>acA	p.T83T	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.T83T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	83	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T83T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTTTTGTGACGGTCTTGGAAG	0.507			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		14564	0.0		0.0	False		,,,				2504	0.0				p.T83T	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	4						.						179.0	189.0	186.0					4																	55127461		2203	4300	6503	54822218	SO:0001819	synonymous_variant	5156	exon3	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.249G>A	4.37:g.55127461G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54822218	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.507	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55133493	55133493	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55133493T>C	ENST00000257290.5	+	6	1128	c.797T>C	c.(796-798)gTc>gCc	p.V266A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	266	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V266A(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAAATCAAAGTCCCATCCATC	0.493			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.V266A	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T797C	4						.						103.0	105.0	104.0					4																	55133493		2203	4300	6503	54828250	SO:0001583	missense	5156	exon6	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.797T>C	4.37:g.55133493T>C	ENSP00000257290:p.Val266Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54828250	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	8.485	0.860764	0.17178	.	.	ENSG00000134853	ENST00000257290	T	0.70516	-0.49	5.67	3.11	0.35812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.704916	0.10842	U	0.628160	T	0.62600	0.2441	L	0.56769	1.78	0.80722	D	1	B;B	0.22003	0.003;0.063	B;B	0.22753	0.009;0.041	T	0.48468	-0.9033	10	0.05525	T	0.97	.	10.8261	0.46633	0.2524:0.0:0.0:0.7476	.	266;266	P16234-3;P16234	.;PGFRA_HUMAN	A	266	ENSP00000257290:V266A	ENSP00000257290:V266A	V	+	2	0	PDGFRA	54828250	1.000000	0.71417	0.012000	0.15200	0.936000	0.57629	3.443000	0.52907	0.365000	0.24400	0.260000	0.18958	GTC		0.493	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55133597	55133597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55133597G>T	ENST00000257290.5	+	6	1232	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	301	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E301*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGAGGTCAAAGAAATGAAGAA	0.458			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.E301X	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G901T	4						.						74.0	79.0	77.0					4																	55133597		2203	4300	6503	54828354	SO:0001587	stop_gained	5156	exon6	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.901G>T	4.37:g.55133597G>T	ENSP00000257290:p.Glu301*	Somatic		Capture	Illumina HiSeq	Phase_I	54828354	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	39	7.679490	0.98428	.	.	ENSG00000134853	ENST00000257290	.	.	.	5.79	2.95	0.34219	.	0.527164	0.13992	U	0.348703	.	.	.	.	.	.	0.27784	N	0.943053	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.564	0.27868	0.1994:0.1217:0.6789:0.0	.	.	.	.	X	301	.	ENSP00000257290:E301X	E	+	1	0	PDGFRA	54828354	0.999000	0.42202	0.996000	0.52242	0.948000	0.59901	1.941000	0.40233	1.466000	0.48025	0.462000	0.41574	GAA		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55133778	55133778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55133778G>T	ENST00000257290.5	+	7	1322	c.991G>T	c.(991-993)Gaa>Taa	p.E331*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	331	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E331*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAACCTGCATGAAGTCAAACA	0.428			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.E331X	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G991T	4						.						78.0	77.0	78.0					4																	55133778		2203	4300	6503	54828535	SO:0001587	stop_gained	5156	exon7	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.991G>T	4.37:g.55133778G>T	ENSP00000257290:p.Glu331*	Somatic		Capture	Illumina HiSeq	Phase_I	54828535	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	40	8.459382	0.98820	.	.	ENSG00000134853	ENST00000257290	.	.	.	5.79	4.95	0.65309	.	0.258546	0.19851	U	0.104622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.1003	0.86647	0.0:0.1265:0.8735:0.0	.	.	.	.	X	331	.	ENSP00000257290:E331X	E	+	1	0	PDGFRA	54828535	1.000000	0.71417	0.730000	0.30809	0.921000	0.55340	5.347000	0.65998	1.433000	0.47394	0.462000	0.41574	GAA		0.428	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55153687	55153687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55153687C>T	ENST00000257290.5	+	19	2984	c.2653C>T	c.(2653-2655)Ctc>Ttc	p.L885F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L645F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L885F(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGCATTCTGCTCTGGGAGAT	0.493			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.L885F	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2653T	4						.						273.0	234.0	247.0					4																	55153687		2203	4300	6503	54848444	SO:0001583	missense	5156	exon19	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2653C>T	4.37:g.55153687C>T	ENSP00000257290:p.Leu885Phe	Somatic		Capture	Illumina HiSeq	Phase_I	54848444	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644686	0.87859	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.91996	-2.95;-2.95	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29040	U	0.013326	D	0.95433	0.8517	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95621	0.8681	10	0.87932	D	0	.	19.3834	0.94546	0.0:1.0:0.0:0.0	.	885	P16234	PGFRA_HUMAN	F	645;885	ENSP00000423325:L645F;ENSP00000257290:L885F	ENSP00000423325:L645F	L	+	1	0	FIP1L1;PDGFRA	54848444	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.003000	0.70701	2.593000	0.87608	0.591000	0.81541	CTC		0.493	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55161294	55161294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55161294C>T	ENST00000257290.5	+	23	3456	c.3125C>T	c.(3124-3126)tCg>tTg	p.S1042L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S802L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1042	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S1042L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCCTCCAGCTCGCAGACCTCT	0.502			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.S1042L	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3125T	4						.						104.0	94.0	98.0					4																	55161294		2203	4300	6503	54856051	SO:0001583	missense	5156	exon23	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3125C>T	4.37:g.55161294C>T	ENSP00000257290:p.Ser1042Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54856051	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151466	0.78001	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77489	-1.1;-0.94	5.75	5.75	0.90469	.	0.000000	0.29059	U	0.013280	D	0.82706	0.5095	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80226	-0.1470	10	0.32370	T	0.25	.	19.9335	0.97129	0.0:1.0:0.0:0.0	.	1042	P16234	PGFRA_HUMAN	L	802;1042	ENSP00000423325:S802L;ENSP00000257290:S1042L	ENSP00000423325:S802L	S	+	2	0	FIP1L1;PDGFRA	54856051	1.000000	0.71417	0.964000	0.40570	0.697000	0.40408	7.487000	0.81328	2.722000	0.93159	0.462000	0.41574	TCG		0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	broad.mit.edu	37	4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A	rs200950545		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55561758G>A	ENST00000288135.5	+	2	245	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	50	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V50M(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.V50M		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G148A	4						.						117.0	104.0	108.0					4																	55561758		2203	4300	6503	55256515	SO:0001583	missense	3815	exon2	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.148G>A	4.37:g.55561758G>A	ENSP00000288135:p.Val50Met	Somatic		Capture	Illumina HiSeq	Phase_I	55256515	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011355	0.19277	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.12465	2.68;2.68	5.19	4.28	0.50868	Immunoglobulin-like fold (1);	1.342190	0.05132	N	0.492744	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	1	P;P	0.52061	0.95;0.926	B;P	0.46685	0.273;0.524	T	0.10706	-1.0618	10	0.37606	T	0.19	.	5.8268	0.18558	0.0967:0.0:0.6994:0.2039	.	50;50	P10721-2;P10721	.;KIT_HUMAN	M	50	ENSP00000288135:V50M;ENSP00000390987:V50M	ENSP00000288135:V50M	V	+	1	0	KIT	55256515	0.026000	0.19158	0.006000	0.13384	0.001000	0.01503	2.646000	0.46630	2.706000	0.92434	0.650000	0.86243	GTG		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	broad.mit.edu	37	4	55592136	55592136	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55592136G>A	ENST00000288135.5	+	9	1557	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	487	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D479fs*2(1)|p.G487D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCACAATGGCACGGTTGAA	0.408		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.G487D		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)	c.G1460A	4						.						140.0	125.0	130.0					4																	55592136		2203	4300	6503	55286893	SO:0001583	missense	3815	exon9	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1460G>A	4.37:g.55592136G>A	ENSP00000288135:p.Gly487Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55286893	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105160	0.77096	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.08102	3.13;3.13	6.02	6.02	0.97574	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.32763	0.0840	M	0.81239	2.535	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.97110	0.966;1.0	T	0.00428	-1.1745	10	0.35671	T	0.21	.	18.7212	0.91694	0.0:0.0:1.0:0.0	.	487;487	P10721-2;P10721	.;KIT_HUMAN	D	487	ENSP00000288135:G487D;ENSP00000390987:G487D	ENSP00000288135:G487D	G	+	2	0	KIT	55286893	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.581000	0.60949	2.865000	0.98341	0.655000	0.94253	GGC		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KDR	3791	broad.mit.edu	37	4	55976899	55976899	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:55976899G>T	ENST00000263923.4	-	8	1308	c.1013C>A	c.(1012-1014)tCt>tAt	p.S338Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	338	Ig-like C2-type 4.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S338Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCACCAGAGATTCCATGCC	0.398			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.S338Y			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013A	4						.						65.0	71.0	69.0					4																	55976899		2203	4300	6503	55671656	SO:0001583	missense	3791	exon8			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1013C>A	4.37:g.55976899G>T	ENSP00000263923:p.Ser338Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55671656	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561251	0.65538	.	.	ENSG00000128052	ENST00000263923	T	0.78126	-1.15	5.65	5.65	0.86999	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.248547	0.41294	D	0.000908	D	0.87208	0.6120	M	0.83312	2.635	0.32481	N	0.541483	D;D	0.76494	0.999;0.996	D;D	0.69479	0.964;0.914	D	0.88194	0.2879	10	0.30078	T	0.28	.	13.8098	0.63256	0.0:0.0:0.8375:0.1624	.	338;338	P35968-2;P35968	.;VGFR2_HUMAN	Y	338	ENSP00000263923:S338Y	ENSP00000263923:S338Y	S	-	2	0	KDR	55671656	1.000000	0.71417	0.762000	0.31397	0.714000	0.41099	4.519000	0.60517	2.665000	0.90641	0.563000	0.77884	TCT		0.398	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
SRD5A3	79644	broad.mit.edu	37	4	56230356	56230356	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:56230356C>T	ENST00000264228.4	+	3	708	c.480C>T	c.(478-480)gtC>gtT	p.V160V	SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	160					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.V160V(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TGATTCACGTCGTGCAGTACT	0.483																																					p.V160V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	4						.						302.0	232.0	256.0					4																	56230356		2203	4300	6503	55925113	SO:0001819	synonymous_variant	79644	exon3			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.480C>T	4.37:g.56230356C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55925113	NM_024592	Q4W5Q6	Silent	SNP	ENST00000264228.4	37	CCDS3498.1																																																																																				0.483	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592	
EXOC1	55763	broad.mit.edu	37	4	56756457	56756457	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:56756457T>G	ENST00000381295.2	+	12	1792	c.1444T>G	c.(1444-1446)Tca>Gca	p.S482A	EXOC1_ENST00000346134.7_Missense_Mutation_p.S482A|EXOC1_ENST00000349598.6_Missense_Mutation_p.S467A	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	482					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S482A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGTTCAGAGTTCAGGGAATCG	0.393																																					p.S482A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1444G	4						.						157.0	147.0	150.0					4																	56756457		2203	4300	6503	56451214	SO:0001583	missense	55763	exon12			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1444T>G	4.37:g.56756457T>G	ENSP00000370695:p.Ser482Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56451214	NM_018261	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116278	0.37339	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.45	5.45	0.79879	.	0.114837	0.64402	D	0.000009	T	0.44435	0.1293	L	0.39397	1.21	0.49915	D	0.99983	B;B	0.09022	0.0;0.002	B;B	0.13407	0.001;0.009	T	0.32666	-0.9898	9	0.09590	T	0.72	.	10.7163	0.46015	0.1422:0.0:0.0:0.8578	.	467;482	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	A	482;482;467	.	ENSP00000326514:S482A	S	+	1	0	EXOC1	56451214	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.702000	0.61817	2.086000	0.62901	0.533000	0.62120	TCA		0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
POLR2B	5431	broad.mit.edu	37	4	57877004	57877004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:57877004G>T	ENST00000381227.1	+	13	2052	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*	POLR2B_ENST00000431623.2_Nonsense_Mutation_p.E472*|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.E547*|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.E540*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	547					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.E547*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTTTTAGAAGAATGGAGTAT	0.333																																					p.E547X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1639T	4						.						80.0	85.0	83.0					4																	57877004		2201	4299	6500	57571761	SO:0001587	stop_gained	5431	exon12				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1639G>T	4.37:g.57877004G>T	ENSP00000370625:p.Glu547*	Somatic		Capture	Illumina HiSeq	Phase_I	57571761	NM_000938	A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	42	9.808787	0.99270	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	.	.	.	X	547;472;540;547	.	ENSP00000312735:E547X	E	+	1	0	POLR2B	57571761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.622000	0.98378	2.720000	0.93068	0.650000	0.86243	GAA		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
POLR2B	5431	broad.mit.edu	37	4	57881683	57881683	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:57881683G>A	ENST00000381227.1	+	15	2229	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	POLR2B_ENST00000431623.2_Missense_Mutation_p.D531N|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.D606N|POLR2B_ENST00000441246.2_Missense_Mutation_p.D599N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	606					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.D606N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATGATCAGAGATATTCGAGA	0.328																																					p.D606N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	4						.						98.0	103.0	101.0					4																	57881683		2203	4300	6503	57576440	SO:0001583	missense	5431	exon14				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1816G>A	4.37:g.57881683G>A	ENSP00000370625:p.Asp606Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57576440	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388413	0.95988	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.74	5.74	0.90152	RNA polymerase Rpb2, domain 4 (1);	0.092190	0.64402	D	0.000001	T	0.81079	0.4748	L	0.54965	1.715	0.80722	D	1	P;P	0.37141	0.584;0.584	B;P	0.45946	0.364;0.498	T	0.76833	-0.2813	10	0.30078	T	0.28	.	19.9173	0.97066	0.0:0.0:1.0:0.0	.	531;606	C9J4M6;P30876	.;RPB2_HUMAN	N	606;531;599;606	ENSP00000370625:D606N;ENSP00000391096:D531N;ENSP00000391452:D599N;ENSP00000312735:D606N	ENSP00000312735:D606N	D	+	1	0	POLR2B	57576440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.582000	0.98214	2.707000	0.92482	0.563000	0.77884	GAT		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
POLR2B	5431	broad.mit.edu	37	4	57881794	57881794	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:57881794T>A	ENST00000381227.1	+	15	2340	c.1927T>A	c.(1927-1929)Ttg>Atg	p.L643M	POLR2B_ENST00000431623.2_Missense_Mutation_p.L568M|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.L643M|POLR2B_ENST00000441246.2_Missense_Mutation_p.L636M			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	643					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.L643M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATTGACCAATTGAAAGAGAG	0.338																																					p.L643M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1927A	4						.						96.0	104.0	101.0					4																	57881794		2203	4300	6503	57576551	SO:0001583	missense	5431	exon14				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1927T>A	4.37:g.57881794T>A	ENSP00000370625:p.Leu643Met	Somatic		Capture	Illumina HiSeq	Phase_I	57576551	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990653	0.54041	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.6	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.85710	2.77	0.58432	D	0.999997	P;P	0.42357	0.777;0.777	B;B	0.42030	0.373;0.373	T	0.79349	-0.1840	10	0.72032	D	0.01	.	8.13	0.31022	0.0:0.3842:0.0:0.6158	.	568;643	C9J4M6;P30876	.;RPB2_HUMAN	M	643;568;636;643	ENSP00000370625:L643M;ENSP00000391096:L568M;ENSP00000391452:L636M;ENSP00000312735:L643M	ENSP00000312735:L643M	L	+	1	2	POLR2B	57576551	0.371000	0.25056	0.966000	0.40874	0.988000	0.76386	0.369000	0.20416	0.414000	0.25790	0.379000	0.24179	TTG		0.338	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
LPHN3	23284	broad.mit.edu	37	4	62449403	62449403	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:62449403C>T	ENST00000514591.1	+	4	384				LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000504896.1_Intron|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000508693.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000512091.2_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000509896.1_Intron|LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000514996.1_Intron			Q9HAR2	LPHN3_HUMAN	latrophilin 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCAGTCAGTCCTGTGGTCAG	0.363																																					.												.	.	0			.	4						.						321.0	298.0	305.0					4																	62449403		876	1991	2867	62131998	SO:0001627	intron_variant	23284	.			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.56-3542C>T	4.37:g.62449403C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62131998	.	E9PE04|O94867|Q9NWK5	Intron	SNP	ENST00000514591.1	37	CCDS54768.1																																																																																				0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62800601	62800601	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:62800601T>G	ENST00000514591.1	+	13	2281	c.1952T>G	c.(1951-1953)tTg>tGg	p.L651W	LPHN3_ENST00000507164.1_Missense_Mutation_p.L719W|LPHN3_ENST00000508946.1_Missense_Mutation_p.L651W|LPHN3_ENST00000545650.1_Missense_Mutation_p.L651W|LPHN3_ENST00000507625.1_Missense_Mutation_p.L719W|LPHN3_ENST00000504896.1_Missense_Mutation_p.L651W|LPHN3_ENST00000514157.1_Missense_Mutation_p.L651W|LPHN3_ENST00000508693.1_Missense_Mutation_p.L719W|LPHN3_ENST00000506700.1_Missense_Mutation_p.L651W|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000512091.2_Missense_Mutation_p.L651W|LPHN3_ENST00000506746.1_Missense_Mutation_p.L719W|LPHN3_ENST00000509896.1_Missense_Mutation_p.L719W|LPHN3_ENST00000506720.1_Missense_Mutation_p.L719W|LPHN3_ENST00000511324.1_Missense_Mutation_p.L719W|LPHN3_ENST00000514996.1_Missense_Mutation_p.L651W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	638					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.L651W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCACAAGCTTTGAATGCATGG	0.483																																					p.L651W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T1952G	4						.						84.0	87.0	86.0					4																	62800601		2049	4211	6260	62483196	SO:0001583	missense	23284	exon11			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1952T>G	4.37:g.62800601T>G	ENSP00000422533:p.Leu651Trp	Somatic		Capture	Illumina HiSeq	Phase_I	62483196	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.118756|3.118756	0.56505|0.56505	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10860	.|2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.43|5.43	3.0|3.0	0.34707|0.34707	.|Domain of unknown function DUF3497 (1);	.|0.139485	.|0.49916	.|D	.|0.000132	T|T	0.18215|0.18215	0.0437|0.0437	L|L	0.41492|0.41492	1.28|1.28	0.38667|0.38667	D|D	0.952219|0.952219	.|D;D;D	.|0.69078	.|0.993;0.997;0.993	.|P;P;P	.|0.60173	.|0.87;0.87;0.724	T|T	0.01508|0.01508	-1.1337|-1.1337	5|10	.|0.72032	.|D	.|0.01	.|.	9.3238|9.3238	0.37980|0.37980	0.0:0.149:0.0:0.851|0.0:0.149:0.0:0.851	.|.	.|651;638;651	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|W	108|651;651;719;719;651;638;651;638;651;719;719;719;651;651;651;719;719;651	.|ENSP00000423388:L651W;ENSP00000422533:L651W;ENSP00000423787:L719W;ENSP00000425033:L719W;ENSP00000424120:L651W;ENSP00000439831:L651W;ENSP00000421476:L719W;ENSP00000424030:L719W;ENSP00000421372:L719W;ENSP00000425201:L651W;ENSP00000423434:L651W;ENSP00000421627:L651W;ENSP00000420931:L719W;ENSP00000425884:L719W;ENSP00000424258:L651W	.|ENSP00000280009:L651W	F|L	+|+	3|2	2|0	LPHN3|LPHN3	62483196|62483196	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.979000|0.979000	0.70002|0.70002	2.571000|2.571000	0.45990|0.45990	0.498000|0.498000	0.27948|0.27948	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62910205	62910205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:62910205G>A	ENST00000514591.1	+	24	3877	c.3548G>A	c.(3547-3549)cGa>cAa	p.R1183Q	LPHN3_ENST00000507164.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R1183Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1174Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R1183Q(8)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GACACGGTTCGAAAGCAGTCA	0.383																																					p.R1183Q												.	.	8	Substitution - Missense(8)	large_intestine(8)	c.G3548A	4						.						51.0	51.0	51.0					4																	62910205		1917	4140	6057	62592800	SO:0001583	missense	23284	exon22			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3548G>A	4.37:g.62910205G>A	ENSP00000422533:p.Arg1183Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62592800	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237803	0.79800	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74209	-0.64;-0.77;-0.67;-0.65;-0.63;-0.77;-0.68;-0.7;-0.79;-0.66;-0.68;-0.79;-0.82;-0.79;-0.77	6.08	5.22	0.72569	GPCR, family 2, latrophilin, C-terminal (1);	0.063748	0.64402	D	0.000014	D	0.85053	0.5609	M	0.65975	2.015	0.51012	D	0.999903	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.99	D	0.86724	0.1944	10	0.72032	D	0.01	.	16.6528	0.85221	0.0:0.0:0.8692:0.1308	.	1183;1161;1183	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Q	1183;1183;1251;1242;1174;1183;1161;1183;1242;1251;1242;1174;1183;1183;1251;1242;1174	ENSP00000423388:R1183Q;ENSP00000422533:R1183Q;ENSP00000423787:R1251Q;ENSP00000425033:R1242Q;ENSP00000424120:R1174Q;ENSP00000439831:R1183Q;ENSP00000421476:R1242Q;ENSP00000424030:R1251Q;ENSP00000421372:R1242Q;ENSP00000425201:R1174Q;ENSP00000423434:R1183Q;ENSP00000421627:R1183Q;ENSP00000420931:R1251Q;ENSP00000425884:R1242Q;ENSP00000424258:R1174Q	ENSP00000280009:R1183Q	R	+	2	0	LPHN3	62592800	1.000000	0.71417	0.959000	0.39883	0.443000	0.32047	9.476000	0.97823	1.534000	0.49203	0.655000	0.94253	CGA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
TECRL	253017	broad.mit.edu	37	4	65145912	65145912	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:65145912T>A	ENST00000381210.3	-	12	1080	c.970A>T	c.(970-972)Att>Ttt	p.I324F	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	324					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.I324F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGTGTAAAAATTCCAACTAGA	0.274																																					p.I324F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A970T	4						.						29.0	30.0	30.0					4																	65145912		2175	4239	6414	64828507	SO:0001583	missense	253017	exon12			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.970A>T	4.37:g.65145912T>A	ENSP00000370607:p.Ile324Phe	Somatic		Capture	Illumina HiSeq	Phase_I	64828507	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.048265|2.048265	0.36181|0.36181	.|.	.|.	ENSG00000205678|ENSG00000205678	ENST00000511997|ENST00000381210	.|T	.|0.32272	.|1.46	5.09|5.09	1.37|1.37	0.22104|0.22104	.|3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	.|0.311884	.|0.34932	.|N	.|0.003578	T|T	0.20820|0.20820	0.0501|0.0501	L|L	0.43646|0.43646	1.37|1.37	0.44366|0.44366	D|D	0.997265|0.997265	.|B	.|0.13145	.|0.007	.|B	.|0.14023	.|0.01	T|T	0.05989|0.05989	-1.0852|-1.0852	6|10	0.87932|0.24483	D|T	0|0.36	-11.881|-11.881	6.2514|6.2514	0.20848|0.20848	0.0:0.3002:0.0:0.6998|0.0:0.3002:0.0:0.6998	.|.	.|324	.|Q5HYJ1	.|TECRL_HUMAN	D|F	23|324	.|ENSP00000370607:I324F	ENSP00000423975:E23D|ENSP00000370607:I324F	E|I	-|-	3|1	2|0	TECRL|TECRL	64828507|64828507	0.150000|0.150000	0.22732|0.22732	0.896000|0.896000	0.35187|0.35187	0.998000|0.998000	0.95712|0.95712	0.186000|0.186000	0.16978|0.16978	0.364000|0.364000	0.24374|0.24374	0.528000|0.528000	0.53228|0.53228	GAA|ATT		0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
TECRL	253017	broad.mit.edu	37	4	65240883	65240883	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:65240883A>G	ENST00000381210.3	-	2	397				TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.?(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TAATATATAAAACTTACATGC	0.234																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						8.0	9.0	8.0					4																	65240883		2033	4060	6093	64923478	SO:0001627	intron_variant	253017	.			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.286+6T>C	4.37:g.65240883A>G		Somatic		Capture	Illumina HiSeq	Phase_I	64923478	.		Intron	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.234	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
EPHA5	2044	broad.mit.edu	37	4	66230870	66230870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:66230870C>A	ENST00000273854.3	-	12	2701	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E702*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E679*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E538*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	701	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.E701*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACAGGTAATTCTCTTTTTCCT	0.368										TSP Lung(17;0.13)																											p.E701X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2101T	4						.						163.0	167.0	166.0					4																	66230870		2203	4300	6503	65913465	SO:0001587	stop_gained	2044	exon12			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2101G>T	4.37:g.66230870C>A	ENSP00000273854:p.Glu701*	Somatic		Capture	Illumina HiSeq	Phase_I	65913465	NM_004439	Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	46	12.468544	0.99670	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	.	.	.	X	701;538;679;702	.	ENSP00000273854:E701X	E	-	1	0	EPHA5	65913465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.834000	0.97654	0.650000	0.86243	GAA		0.368	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
EPHA5	2044	broad.mit.edu	37	4	66233087	66233087	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:66233087G>T	ENST00000273854.3	-	10	2512	c.1912C>A	c.(1912-1914)Cat>Aat	p.H638N	EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N|EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	638					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.H638N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCCCATTATGAAAATGCATC	0.338										TSP Lung(17;0.13)																											p.H638N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1912A	4						.						117.0	101.0	106.0					4																	66233087		2203	4300	6503	65915682	SO:0001583	missense	2044	exon10			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1912C>A	4.37:g.66233087G>T	ENSP00000273854:p.His638Asn	Somatic		Capture	Illumina HiSeq	Phase_I	65915682	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290970	0.40494	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000063	T	0.10937	0.0267	L	0.29908	0.895	0.49130	D	0.999757	B;B;B;P	0.36483	0.258;0.024;0.375;0.555	B;B;B;B	0.36922	0.119;0.009;0.236;0.22	T	0.19063	-1.0317	10	0.28530	T	0.3	.	18.5097	0.90911	0.0:0.0:1.0:0.0	.	617;639;616;638	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	638;475;616;639	ENSP00000273854:H638N;ENSP00000389208:H475N;ENSP00000346899:H616N;ENSP00000427638:H639N	ENSP00000273854:H638N	H	-	1	0	EPHA5	65915682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.793000	0.99091	2.465000	0.83290	0.460000	0.39030	CAT		0.338	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
UBA6	55236	broad.mit.edu	37	4	68496173	68496173	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:68496173G>T	ENST00000322244.5	-	26	2388					NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAGGCTTAAAGAATATCTTAC	0.308																																					.												.	.	0			.	4						.						72.0	67.0	69.0					4																	68496173		2197	4285	6482	68178768	SO:0001627	intron_variant	55236	.			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2328+10C>A	4.37:g.68496173G>T		Somatic		Capture	Illumina HiSeq	Phase_I	68178768	.	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Intron	SNP	ENST00000322244.5	37	CCDS3516.1																																																																																				0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11D	9407	broad.mit.edu	37	4	68699082	68699082	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:68699082C>A	ENST00000283916.6	-	7	630	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.D61Y|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	178					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.D178Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTTATTAGGTCTGGACCGGCC	0.478																																					p.D178Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G532T	4						.						124.0	116.0	119.0					4																	68699082		2203	4300	6503	68381677	SO:0001583	missense	9407	exon7			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.532G>T	4.37:g.68699082C>A	ENSP00000283916:p.Asp178Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	68381677	NM_004262	Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638926	0.67130	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88741	-2.41;-2.42	5.6	3.87	0.44632	Peptidase cysteine/serine, trypsin-like (1);	0.307834	0.28072	N	0.016713	D	0.85609	0.5736	N	0.08118	0	0.40124	D	0.976639	D	0.76494	0.999	D	0.64042	0.921	D	0.86766	0.1970	10	0.62326	D	0.03	.	9.5632	0.39383	0.0:0.8314:0.0:0.1686	.	178	O60235	TM11D_HUMAN	Y	178;61	ENSP00000283916:D178Y;ENSP00000442045:D61Y	ENSP00000283916:D178Y	D	-	1	0	TMPRSS11D	68381677	0.770000	0.28543	0.994000	0.49952	0.758000	0.43043	1.642000	0.37207	1.363000	0.46019	0.650000	0.86243	GAC		0.478	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262	
TMPRSS11A	339967	broad.mit.edu	37	4	68777138	68777138	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:68777138A>G	ENST00000334830.7	-	10	1934	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C	TMPRSS11A_ENST00000396188.2_Silent_p.C393C|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Silent_p.C392C			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	396	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.C396C(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CCTTTTGACCACAGTTATCTC	0.388																																					p.C396C	NSCLC(26;2 894 10941 14480 22546)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1188C	4						.						171.0	161.0	165.0					4																	68777138		2203	4300	6503	68459733	SO:0001819	synonymous_variant	339967	exon10			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1188T>C	4.37:g.68777138A>G		Somatic		Capture	Illumina HiSeq	Phase_I	68459733	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Silent	SNP	ENST00000334830.7	37	CCDS3519.1																																																																																				0.388	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
TMPRSS11F	389208	broad.mit.edu	37	4	68928493	68928493	+	Intron	SNP	G	G	A	rs371088689		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:68928493G>A	ENST00000356291.2	-	8	1075				UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R112W(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GGATTTGGCCGCCCTCTGCGG	0.423																																					.												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	.	4						.	G		1,4395	2.1+/-5.4	0,1,2197	153.0	159.0	157.0			0.2	0.0	4		157	0,8600		0,0,4300	no	intron	TMPRSS11F	NM_207407.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077			68928493	1,12995	2198	4300	6498	68611088	SO:0001627	intron_variant	401135	.			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1015+1909C>T	4.37:g.68928493G>A		Somatic		Capture	Illumina HiSeq	Phase_I	68611088	.	A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																				0.423	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
YTHDC1	91746	broad.mit.edu	37	4	69199076	69199076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69199076G>T	ENST00000344157.4	-	5	1258	c.923C>A	c.(922-924)tCt>tAt	p.S308Y	YTHDC1_ENST00000355665.3_Missense_Mutation_p.S308Y|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S308Y	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	308					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S308Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AACAATTGGAGATATGCCTCT	0.328																																					p.S308Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C923A	4						.						220.0	232.0	228.0					4																	69199076		2203	4300	6503	68881671	SO:0001583	missense	91746	exon5			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.923C>A	4.37:g.69199076G>T	ENSP00000339245:p.Ser308Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	68881671	NM_133370	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754012	0.49362	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30981	1.71;1.51	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.45975	0.1369	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.65815	0.994;0.995	D;P	0.74348	0.983;0.854	T	0.44298	-0.9337	10	0.87932	D	0	.	19.9152	0.97057	0.0:0.0:1.0:0.0	.	308;308	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Y	308	ENSP00000339245:S308Y;ENSP00000347888:S308Y	ENSP00000339245:S308Y	S	-	2	0	YTHDC1	68881671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.784000	0.95788	0.585000	0.79938	TCT		0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
YTHDC1	91746	broad.mit.edu	37	4	69203444	69203444	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69203444C>A	ENST00000344157.4	-	3	640	c.305G>T	c.(304-306)aGa>aTa	p.R102I	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R102I|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R102I	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	102					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R102I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCTTTCAGATCTTTGATATTC	0.378																																					p.R102I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305T	4						.						169.0	163.0	165.0					4																	69203444		2203	4300	6503	68886039	SO:0001583	missense	91746	exon3			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.305G>T	4.37:g.69203444C>A	ENSP00000339245:p.Arg102Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68886039	NM_133370	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307273	0.81247	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28895	1.59;1.66	5.57	5.57	0.84162	.	0.051230	0.85682	D	0.000000	T	0.45935	0.1367	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.80764	0.994;0.944	T	0.45906	-0.9229	10	0.72032	D	0.01	.	19.5388	0.95266	0.0:1.0:0.0:0.0	.	102;102	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	I	102	ENSP00000339245:R102I;ENSP00000347888:R102I	ENSP00000339245:R102I	R	-	2	0	YTHDC1	68886039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.715000	0.68430	2.597000	0.87782	0.585000	0.79938	AGA		0.378	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
UGT2B17	7367	broad.mit.edu	37	4	69416431	69416431	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69416431A>G	ENST00000317746.2	-	5	1319	c.1277T>C	c.(1276-1278)tTg>tCg	p.L426S		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	426					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.L426S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TGCATTGAGCAAATCTCTACT	0.413																																					p.L426S	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1277C	4						.						149.0	120.0	130.0					4																	69416431		2100	3985	6085	69099026	SO:0001583	missense	7367	exon5			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1277T>C	4.37:g.69416431A>G	ENSP00000320401:p.Leu426Ser	Somatic		Capture	Illumina HiSeq	Phase_I	69099026	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766554	0.49574	.	.	ENSG00000197888	ENST00000317746	T	0.72615	-0.67	2.77	2.77	0.32553	.	0.102569	0.40064	U	0.001192	D	0.85164	0.5634	H	0.96662	3.86	0.24514	N	0.994198	.	.	.	.	.	.	T	0.77978	-0.2384	8	0.87932	D	0	.	8.7585	0.34661	1.0:0.0:0.0:0.0	.	.	.	.	S	426	ENSP00000320401:L426S	ENSP00000320401:L426S	L	-	2	0	UGT2B17	69099026	0.894000	0.30519	0.321000	0.25320	0.019000	0.09904	8.171000	0.89675	1.134000	0.42165	0.369000	0.22263	TTG		0.413	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2B17	7367	broad.mit.edu	37	4	69417606	69417606	+	Missense_Mutation	SNP	C	C	A	rs150513792	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69417606C>A	ENST00000317746.2	-	4	1071	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	343					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.K343N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TATTTGGCTTCTTGCCATCAA	0.343																																					p.K343N	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1029T	4						.						93.0	82.0	86.0					4																	69417606		2089	3914	6003	69100201	SO:0001583	missense	7367	exon4			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1029G>T	4.37:g.69417606C>A	ENSP00000320401:p.Lys343Asn	Somatic		Capture	Illumina HiSeq	Phase_I	69100201	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	C	4.871	0.161933	0.09287	.	.	ENSG00000197888	ENST00000317746	T	0.61392	0.11	2.68	1.79	0.24919	.	0.149339	0.42821	U	0.000643	T	0.48840	0.1522	L	0.41356	1.27	0.25182	N	0.990198	.	.	.	.	.	.	T	0.38286	-0.9668	8	0.39692	T	0.17	.	7.6284	0.28226	0.0:0.8589:0.0:0.1411	.	.	.	.	N	343	ENSP00000320401:K343N	ENSP00000320401:K343N	K	-	3	2	UGT2B17	69100201	1.000000	0.71417	0.612000	0.29024	0.114000	0.19823	1.041000	0.30291	0.292000	0.22492	0.194000	0.17425	AAG		0.343	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2B15	7366	broad.mit.edu	37	4	69536114	69536114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69536114C>A	ENST00000338206.5	-	1	232	c.223G>T	c.(223-225)Gaa>Taa	p.E75*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	75					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GGATAAACTTCTAATTTAATA	0.348																																					.												.	.	0			.	4						.						101.0	117.0	111.0					4																	69536114		2203	4296	6499	69570719	SO:0001587	stop_gained	7366	.			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.223G>T	4.37:g.69536114C>A	ENSP00000341045:p.Glu75*	Somatic		Capture	Illumina HiSeq	Phase_I	69570719	.	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Nonsense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	19.99	3.929409	0.73327	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.79	2.79	0.32731	.	0.191310	0.32819	U	0.005603	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	11.3195	0.49412	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000341045:E75X	E	-	1	0	UGT2B15	69218709	1.000000	0.71417	0.106000	0.21319	0.315000	0.28087	3.554000	0.53720	1.536000	0.49237	0.442000	0.29010	GAA		0.348	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076	
UGT2B7	7364	broad.mit.edu	37	4	69962375	69962375	+	Missense_Mutation	SNP	T	T	G	rs61361928	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:69962375T>G	ENST00000508661.1	+	1	164	c.137T>G	c.(136-138)cTt>cGt	p.L46R	UGT2B7_ENST00000305231.7_Missense_Mutation_p.L46R|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	46					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.L46R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTGGATGAGCTTATTCAGAGA	0.428																																					p.L46R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T137G	4						.						124.0	129.0	127.0					4																	69962375		2203	4300	6503	69996964	SO:0001583	missense	7364	exon1			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.137T>G	4.37:g.69962375T>G	ENSP00000427659:p.Leu46Arg	Somatic		Capture	Illumina HiSeq	Phase_I	69996964	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	13.27	2.186711	0.38609	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	D;D	0.85088	-1.94;-1.94	2.54	1.24	0.21308	.	0.000000	0.48767	U	0.000162	D	0.93930	0.8057	H	0.98507	4.25	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85524	0.1205	9	.	.	.	.	5.9819	0.19411	0.2314:0.0:0.0:0.7686	.	46;46	E9PBP8;P16662	.;UD2B7_HUMAN	R	46	ENSP00000304811:L46R;ENSP00000427659:L46R	.	L	+	2	0	UGT2B7	69996964	0.972000	0.33761	0.005000	0.12908	0.003000	0.03518	5.066000	0.64351	0.184000	0.20083	0.260000	0.18958	CTT		0.428	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
UGT2B11	10720	broad.mit.edu	37	4	70079851	70079851	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70079851A>C	ENST00000446444.1	-	1	598	c.590T>G	c.(589-591)gTt>gGt	p.V197G	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	197					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V197G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTGACATAACAATAGGTAT	0.373																																					p.V197G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T590G	4						.						64.0	64.0	64.0					4																	70079851		2202	4295	6497	70114440	SO:0001583	missense	10720	exon1			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.590T>G	4.37:g.70079851A>C	ENSP00000387683:p.Val197Gly	Somatic		Capture	Illumina HiSeq	Phase_I	70114440	NM_001073	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	1.277	-0.611372	0.03690	.	.	ENSG00000213759	ENST00000446444	T	0.61274	0.12	1.96	0.78	0.18556	.	1.185740	0.06681	U	0.767952	T	0.48624	0.1510	L	0.55017	1.72	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.39742	-0.9599	10	0.35671	T	0.21	.	3.4697	0.07562	0.592:0.0:0.408:0.0	.	197	O75310	UDB11_HUMAN	G	197	ENSP00000387683:V197G	ENSP00000387683:V197G	V	-	2	0	UGT2B11	70114440	0.000000	0.05858	0.027000	0.17364	0.141000	0.21300	-0.772000	0.04694	0.898000	0.36418	0.155000	0.16302	GTT		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B11	10720	broad.mit.edu	37	4	70080236	70080236	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70080236C>T	ENST00000446444.1	-	1	213	c.205G>A	c.(205-207)Gca>Aca	p.A69T	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	69					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A69T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGTGGATGCATCATTGGGA	0.368																																					p.A69T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205A	4						.						58.0	66.0	63.0					4																	70080236		2197	4288	6485	70114825	SO:0001583	missense	10720	exon1			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.205G>A	4.37:g.70080236C>T	ENSP00000387683:p.Ala69Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70114825	NM_001073	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.093	-1.164501	0.01673	.	.	ENSG00000213759	ENST00000446444	T	0.61980	0.06	1.96	-3.91	0.04168	.	0.544621	0.17031	U	0.189682	T	0.24967	0.0606	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15350	-1.0440	10	0.12766	T	0.61	.	1.4311	0.02334	0.2478:0.2927:0.3225:0.137	.	69	O75310	UDB11_HUMAN	T	69	ENSP00000387683:A69T	ENSP00000387683:A69T	A	-	1	0	UGT2B11	70114825	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-7.012000	0.00046	-2.626000	0.00437	-1.621000	0.00791	GCA		0.368	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B4	7363	broad.mit.edu	37	4	70346561	70346561	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70346561C>T	ENST00000305107.6	-	6	1424	c.1378G>A	c.(1378-1380)Gca>Aca	p.A460T	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Missense_Mutation_p.A324T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	460					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A460T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAGAAGACTGCTCGATCAAGG	0.428																																					p.A460T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	4						.						117.0	117.0	117.0					4																	70346561		2203	4300	6503	70381150	SO:0001583	missense	7363	exon6			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1378G>A	4.37:g.70346561C>T	ENSP00000305221:p.Ala460Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70381150	NM_021139	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859575	0.51376	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.71341	-0.56;-0.56	2.11	0.319	0.15873	.	0.000000	0.64402	U	0.000004	D	0.82614	0.5075	M	0.90198	3.095	0.26963	N	0.965754	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72374	-0.4313	10	0.72032	D	0.01	.	6.0099	0.19569	0.0:0.7004:0.0:0.2996	.	324;460	A6NCP7;P06133	.;UD2B4_HUMAN	T	460;324	ENSP00000305221:A460T;ENSP00000370486:A324T	ENSP00000305221:A460T	A	-	1	0	UGT2B4	70381150	0.979000	0.34478	0.104000	0.21259	0.636000	0.38137	2.541000	0.45735	0.048000	0.15891	0.305000	0.20034	GCA		0.428	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
UGT2A1	10941	broad.mit.edu	37	4	70455287	70455287	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70455287C>T	ENST00000503640.1	-	6	1442	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E419K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E463K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E472K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E629K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	463					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E463K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGACAAACTCGATCCAGAAG	0.453																																					p.E464K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	4						.						129.0	128.0	128.0					4																	70455287		2203	4300	6503	70489876	SO:0001583	missense	10941	exon6			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1387G>A	4.37:g.70455287C>T	ENSP00000424478:p.Glu463Lys	Somatic		Capture	Illumina HiSeq	Phase_I	70489876	NM_001105677	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527063	0.85706	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.86740	2.835	.	.	.	D;D;P;B;P	0.89917	1.0;0.96;0.901;0.178;0.768	D;P;B;B;B	0.81914	0.995;0.63;0.271;0.025;0.12	D	0.88790	0.3277	9	0.72032	D	0.01	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	629;629;419;472;463	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	K	472;463;419;629;463	ENSP00000387888:E472K;ENSP00000424478:E463K;ENSP00000421432:E419K;ENSP00000425497:E629K;ENSP00000286604:E463K	ENSP00000286604:E463K	E	-	1	0	UGT2A1	70489876	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.520000	0.81821	2.526000	0.85167	0.579000	0.79373	GAG		0.453	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
UGT2A1	10941	broad.mit.edu	37	4	70505004	70505004	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70505004C>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.E119*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.E320*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E119*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTCCTAGTTCTTTGTAGAAA	0.373																																					p.E111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G331T	4						.						100.0	97.0	98.0					4																	70505004		1843	4081	5924	70539593	SO:0001627	intron_variant	10941	exon1			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7643G>T	4.37:g.70505004C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70539593	NM_001105677	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Nonsense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891207	0.72524	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	.	.	.	5.85	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6663	0.56844	0.0:0.9206:0.0:0.0794	.	.	.	.	X	119;320	.	ENSP00000387888:E119X	E	-	1	0	UGT2A1	70539593	0.007000	0.16637	1.000000	0.80357	0.271000	0.26615	0.804000	0.27098	1.494000	0.48533	-0.225000	0.12378	GAA		0.373	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
SULT1B1	27284	broad.mit.edu	37	4	70596219	70596219	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70596219C>A	ENST00000310613.3	-	7	1075	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	260					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.G260W(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGTATTTACCTTTACGCATA	0.358																																					p.G260W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778T	4						.						122.0	117.0	118.0					4																	70596219		2203	4300	6503	70630808	SO:0001630	splice_region_variant	27284	exon7			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.778+1G>T	4.37:g.70596219C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70630808	NM_014465	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741162	0.30865	.	.	ENSG00000173597	ENST00000310613	T	0.03801	3.8	4.27	3.41	0.39046	Sulfotransferase domain (1);	0.000000	0.56097	D	0.000033	T	0.38348	0.1037	H	0.99712	4.72	0.49299	D	0.999777	D	0.89917	1.0	D	0.97110	1.0	T	0.60480	-0.7255	9	.	.	.	.	11.4092	0.49915	0.1825:0.8175:0.0:0.0	.	260	O43704	ST1B1_HUMAN	W	260	ENSP00000308770:G260W	.	G	-	1	0	SULT1B1	70630808	1.000000	0.71417	0.984000	0.44739	0.065000	0.16274	5.795000	0.69074	0.910000	0.36722	-0.518000	0.04402	GGG		0.358	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	Missense_Mutation
SULT1B1	27284	broad.mit.edu	37	4	70599875	70599875	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:70599875C>A	ENST00000310613.3	-	5	780	c.483G>T	c.(481-483)gaG>gaT	p.E161D		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	161					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.E161D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTAAGAATTTCTCCAGATATT	0.289																																					p.E161D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G483T	4						.						23.0	23.0	23.0					4																	70599875		2199	4295	6494	70634464	SO:0001583	missense	27284	exon5			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.483G>T	4.37:g.70599875C>A	ENSP00000308770:p.Glu161Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70634464	NM_014465	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	6.968	0.548565	0.13312	.	.	ENSG00000173597	ENST00000310613	T	0.01902	4.57	4.81	3.97	0.46021	Sulfotransferase domain (1);	0.000000	0.56097	D	0.000036	T	0.02610	0.0079	L	0.47716	1.5	0.37807	D	0.927921	B	0.06786	0.001	B	0.09377	0.004	T	0.43845	-0.9366	10	0.44086	T	0.13	.	6.6292	0.22847	0.1756:0.7311:0.0:0.0934	.	161	O43704	ST1B1_HUMAN	D	161	ENSP00000308770:E161D	ENSP00000308770:E161D	E	-	3	2	SULT1B1	70634464	0.947000	0.32204	0.997000	0.53966	0.321000	0.28281	0.192000	0.17096	1.172000	0.42781	-0.459000	0.05422	GAG		0.289	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
SMR3B	10879	broad.mit.edu	37	4	71255398	71255398	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:71255398G>T	ENST00000304915.3	+	3	222	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SMR3B_ENST00000504825.1_Missense_Mutation_p.G25C	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	25						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G25C(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				GAGTCAAAGAGGCCCCAGGGG	0.483																																					p.G25C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73T	4						.						68.0	73.0	72.0					4																	71255398		2203	4300	6503	71289987	SO:0001583	missense	10879	exon3			D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.73G>T	4.37:g.71255398G>T	ENSP00000302400:p.Gly25Cys	Somatic		Capture	Illumina HiSeq	Phase_I	71289987	NM_006685	B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	1.515	-0.548502	0.04024	.	.	ENSG00000171201	ENST00000504825;ENST00000304915;ENST00000381030	T;T	0.39229	1.09;1.09	1.58	0.657	0.17850	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.40701	-0.9549	8	0.87932	D	0	.	5.8579	0.18730	0.0:0.3316:0.6684:0.0	.	25	P02814	SMR3B_HUMAN	C	25	ENSP00000423138:G25C;ENSP00000302400:G25C	ENSP00000302400:G25C	G	+	1	0	SMR3B	71289987	0.005000	0.15991	0.021000	0.16686	0.163000	0.22366	0.961000	0.29267	0.189000	0.20188	0.205000	0.17691	GGC		0.483	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685	
ENAM	10117	broad.mit.edu	37	4	71508717	71508717	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:71508717G>T	ENST00000396073.3	+	9	1855	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	525					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.R525I(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTAGGGTCAAGAAGGATGCCA	0.418																																					p.R525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1574T	4						.						76.0	76.0	76.0					4																	71508717		2203	4300	6503	71727581	SO:0001583	missense	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1574G>T	4.37:g.71508717G>T	ENSP00000379383:p.Arg525Ile	Somatic		Capture	Illumina HiSeq	Phase_I	71727581	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546181	0.27652	.	.	ENSG00000132464	ENST00000396073	T	0.40476	1.03	5.41	1.21	0.21127	.	0.305092	0.29133	N	0.013049	T	0.63141	0.2486	M	0.89353	3.025	0.46823	D	0.999211	D	0.69078	0.997	D	0.73708	0.981	T	0.61501	-0.7050	10	0.87932	D	0	-8.2956	6.817	0.23837	0.466:0.0:0.534:0.0	.	525	Q9NRM1	ENAM_HUMAN	I	525	ENSP00000379383:R525I	ENSP00000379383:R525I	R	+	2	0	ENAM	71727581	1.000000	0.71417	0.979000	0.43373	0.075000	0.17131	1.703000	0.37846	0.004000	0.14682	0.655000	0.94253	AGA		0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
ENAM	10117	broad.mit.edu	37	4	71509246	71509246	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:71509246C>A	ENST00000396073.3	+	9	2384	c.2103C>A	c.(2101-2103)ccC>ccA	p.P701P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	701					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P701P(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATATCTTCCCTATTCTTTAG	0.383																																					p.P701P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2103A	4						.						76.0	77.0	77.0					4																	71509246		2203	4300	6503	71728110	SO:0001819	synonymous_variant	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2103C>A	4.37:g.71509246C>A		Somatic		Capture	Illumina HiSeq	Phase_I	71728110	NM_031889	Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.383	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
UTP3	57050	broad.mit.edu	37	4	71555361	71555361	+	Missense_Mutation	SNP	C	C	T	rs150475938	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:71555361C>T	ENST00000254803.2	+	1	1166	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	323					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R323C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			CTCAGAAATTCGTCATCTGTT	0.428													C|||	7	0.00139776	0.0	0.0	5008	,	,		20942	0.0069		0.0	False		,,,				2504	0.0				p.R323C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C967T	4						.						148.0	146.0	147.0					4																	71555361		2203	4300	6503	71774225	SO:0001583	missense	57050	exon1			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.967C>T	4.37:g.71555361C>T	ENSP00000254803:p.Arg323Cys	Somatic		Capture	Illumina HiSeq	Phase_I	71774225	NM_020368	Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	10.41	1.342677	0.24339	.	.	ENSG00000132467	ENST00000254803	T	0.32023	1.47	4.62	4.62	0.57501	.	0.061122	0.64402	D	0.000004	T	0.20618	0.0496	M	0.66939	2.045	0.80722	D	1	B	0.33448	0.412	B	0.24269	0.052	T	0.09907	-1.0653	10	0.59425	D	0.04	-4.7006	8.9263	0.35643	0.0:0.8355:0.0:0.1645	.	323	Q9NQZ2	SAS10_HUMAN	C	323	ENSP00000254803:R323C	ENSP00000254803:R323C	R	+	1	0	UTP3	71774225	0.368000	0.25031	0.865000	0.33974	0.585000	0.36419	1.818000	0.39012	2.542000	0.85734	0.563000	0.77884	CGT		0.428	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368	
SLC4A4	8671	broad.mit.edu	37	4	72102324	72102324	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:72102324G>A	ENST00000264485.5	+	2	148	c.31G>A	c.(31-33)Gct>Act	p.A11T	SLC4A4_ENST00000425175.1_Missense_Mutation_p.A11T|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A11T	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	11					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.A11T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGACAGAGGGGCTTCCTTCCT	0.443																																					p.A11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	4						.						114.0	116.0	116.0					4																	72102324		1890	4108	5998	72321188	SO:0001583	missense	8671	exon2			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.31G>A	4.37:g.72102324G>A	ENSP00000264485:p.Ala11Thr	Somatic		Capture	Illumina HiSeq	Phase_I	72321188	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787433	0.90367	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	T;T;T	0.78003	-1.14;-1.14;-0.76	5.82	5.82	0.92795	.	0.102379	0.64402	D	0.000003	D	0.87426	0.6174	M	0.63428	1.95	0.80722	D	1	P;D;D	0.71674	0.944;0.998;0.981	P;D;P	0.78314	0.661;0.991;0.783	D	0.87265	0.2282	10	0.66056	D	0.02	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	11;11;11	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	T	11	ENSP00000264485:A11T;ENSP00000393557:A11T;ENSP00000307349:A11T	ENSP00000264485:A11T	A	+	1	0	SLC4A4	72321188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.760000	0.94817	0.655000	0.94253	GCT		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
SLC4A4	8671	broad.mit.edu	37	4	72399970	72399970	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:72399970C>T	ENST00000264485.5	+	18	2424	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	SLC4A4_ENST00000425175.1_Silent_p.F769F|SLC4A4_ENST00000351898.6_Silent_p.F769F|SLC4A4_ENST00000340595.3_Silent_p.F725F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	769	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.F725F(2)|p.F769F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAGGTTGGTTCGTTCCACCGT	0.423																																					p.F725F												.	.	3	Substitution - coding silent(3)	large_intestine(2)|skin(1)	c.C2175T	4						.						74.0	72.0	73.0					4																	72399970		2203	4300	6503	72618834	SO:0001819	synonymous_variant	8671	exon15			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2307C>T	4.37:g.72399970C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72618834	NM_003759	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	CCDS43236.1																																																																																				0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
NPFFR2	10886	broad.mit.edu	37	4	72994476	72994476	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:72994476C>A	ENST00000308744.6	+	2	572	c.474C>A	c.(472-474)ttC>ttA	p.F158L	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F59L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.F56L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	158					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.F158L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTCTGATCTTCTTTTTGTGCA	0.363																																					p.F59L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C177A	4						.						213.0	193.0	200.0					4																	72994476		2203	4300	6503	73213340	SO:0001583	missense	10886	exon3			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.474C>A	4.37:g.72994476C>A	ENSP00000307822:p.Phe158Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73213340	NM_001144756	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221117	0.58560	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.40756	1.02;1.02;1.02	5.9	0.616	0.17613	.	0.000000	0.53938	D	0.000042	T	0.51770	0.1694	L	0.49126	1.545	0.58432	D	0.999996	D;D	0.65815	0.991;0.995	D;D	0.65684	0.937;0.922	T	0.47005	-0.9150	10	0.48119	T	0.1	.	11.3276	0.49458	0.0:0.5917:0.0:0.4082	.	59;158	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	158;59;56	ENSP00000307822:F158L;ENSP00000379321:F59L;ENSP00000351599:F56L	ENSP00000307822:F158L	F	+	3	2	NPFFR2	73213340	0.985000	0.35326	0.998000	0.56505	0.456000	0.32438	0.673000	0.25203	0.111000	0.17947	-0.142000	0.14014	TTC		0.363	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
ADAMTS3	9508	broad.mit.edu	37	4	73169776	73169776	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:73169776C>A	ENST00000286657.4	-	17	2318	c.2282G>T	c.(2281-2283)gGc>gTc	p.G761V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	761	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G761V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATATAATGGCCTGTAGCCTG	0.378																																					p.G761V	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2282T	4						.						138.0	144.0	142.0					4																	73169776		2203	4300	6503	73388640	SO:0001583	missense	9508	exon17			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2282G>T	4.37:g.73169776C>A	ENSP00000286657:p.Gly761Val	Somatic		Capture	Illumina HiSeq	Phase_I	73388640	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332389	0.81801	.	.	ENSG00000156140	ENST00000286657	T	0.57907	0.37	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80585	-0.1317	10	0.87932	D	0	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	761	O15072	ATS3_HUMAN	V	761	ENSP00000286657:G761V	ENSP00000286657:G761V	G	-	2	0	ADAMTS3	73388640	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.730000	0.84881	2.623000	0.88846	0.655000	0.94253	GGC		0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
COX18	285521	broad.mit.edu	37	4	73933783	73933783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:73933783G>A	ENST00000295890.4	-	2	488	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	COX18_ENST00000421792.2_5'Flank|COX18_ENST00000507544.2_Missense_Mutation_p.R133C	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	133					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)	p.R133C(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTTGCACGAACTGCAACT	0.408																																					p.R133C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397T	4						.						156.0	143.0	147.0					4																	73933783		2203	4300	6503	74152647	SO:0001583	missense	285521	exon2			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.397C>T	4.37:g.73933783G>A	ENSP00000295890:p.Arg133Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74152647	NM_173827	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032320	0.35893	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.5	2.59	0.31030	.	0.260319	0.44483	N	0.000447	T	0.42063	0.1186	L	0.41236	1.265	0.44619	D	0.997596	B;B	0.20459	0.019;0.045	B;B	0.21546	0.022;0.035	T	0.14671	-1.0464	9	0.31617	T	0.26	0.029	4.1917	0.10424	0.3545:0.0:0.4971:0.1484	.	133;133	B7ZL88;Q8N8Q8	.;COX18_HUMAN	C	133	.	ENSP00000295890:R133C	R	-	1	0	COX18	74152647	0.539000	0.26402	0.995000	0.50966	0.926000	0.56050	1.165000	0.31822	0.169000	0.19679	0.561000	0.74099	CGT		0.408	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827	
ANKRD17	26057	broad.mit.edu	37	4	74000968	74000968	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:74000968C>T	ENST00000358602.4	-	16	3216	c.3100G>A	c.(3100-3102)Gca>Aca	p.A1034T	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A783T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A921T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1034					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1034T(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTGCAGATGCTCTTCCACTG	0.388																																					p.A783T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2347A	4						.						220.0	199.0	206.0					4																	74000968		2203	4300	6503	74219832	SO:0001583	missense	26057	exon15			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3100G>A	4.37:g.74000968C>T	ENSP00000351416:p.Ala1034Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74219832	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474418	0.43942	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66460	-0.21;-0.09;-0.19	5.28	3.56	0.40772	Ankyrin repeat-containing domain (1);	0.188708	0.36444	N	0.002587	T	0.45677	0.1354	N	0.16478	0.41	0.28016	N	0.934691	B;B;B;B;B	0.26512	0.001;0.007;0.151;0.0;0.0	B;B;B;B;B	0.20184	0.001;0.009;0.028;0.001;0.001	T	0.30357	-0.9981	10	0.28530	T	0.3	.	8.9727	0.35917	0.0:0.7735:0.0:0.2265	.	555;1033;783;1034;921	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	T	1034;783;921;1034	ENSP00000351416:A1034T;ENSP00000332265:A783T;ENSP00000427151:A921T	ENSP00000332265:A783T	A	-	1	0	ANKRD17	74219832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.090000	0.41682	0.617000	0.30160	-0.150000	0.13652	GCA		0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
AFM	173	broad.mit.edu	37	4	74357772	74357772	+	Nonsense_Mutation	SNP	C	C	T	rs201056224		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:74357772C>T	ENST00000226355.3	+	8	1120	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	343	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.R343*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGTCAAGAACGAGATGCTGA	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17455	0.0		0.0	False		,,,				2504	0.0				p.R343X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1027T	4						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	82.0	82.0	82.0		1027	1.7	1.0	4		82	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	AFM	NM_001133.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		343/600	74357772	3,13003	2203	4300	6503	74576636	SO:0001587	stop_gained	173	exon8			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1027C>T	4.37:g.74357772C>T	ENSP00000226355:p.Arg343*	Somatic		Capture	Illumina HiSeq	Phase_I	74576636	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Nonsense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	34	5.304947	0.95601	2.27E-4	2.33E-4	ENSG00000079557	ENST00000226355	.	.	.	4.87	1.74	0.24563	.	1.093860	0.07067	N	0.834823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	6.2882	0.21045	0.2287:0.6702:0.0:0.1011	.	.	.	.	X	343	.	ENSP00000226355:R343X	R	+	1	2	AFM	74576636	0.286000	0.24305	0.976000	0.42696	0.931000	0.56810	0.056000	0.14256	0.291000	0.22468	0.449000	0.29647	CGA		0.353	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
RCHY1	25898	broad.mit.edu	37	4	76407873	76407873	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76407873G>T	ENST00000324439.5	-	9	1059	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212I|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181I|RCHY1_ENST00000512706.1_Missense_Mutation_p.L199I	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	221					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318																																					p.L221I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C661A	4						.						69.0	68.0	68.0					4																	76407873		2203	4300	6503	76626897	SO:0001583	missense	25898	exon9			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.661C>A	4.37:g.76407873G>T	ENSP00000321239:p.Leu221Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76626897	NM_015436	B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705042	0.48412	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.33216	1.42;1.43;1.42	5.87	5.87	0.94306	Rubredoxin-type Fe(Cys)4 protein (1);	0.165279	0.53938	D	0.000057	T	0.36026	0.0952	M	0.70787	2.145	0.80722	D	1	B;B;B;B	0.30870	0.208;0.051;0.208;0.298	B;B;B;B	0.25759	0.028;0.012;0.028;0.063	T	0.11767	-1.0574	10	0.46703	T	0.11	-15.3632	17.7183	0.88344	0.0:0.0:1.0:0.0	.	172;199;212;221	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	I	221;181;199;212;172	ENSP00000321239:L221I;ENSP00000370220:L181I;ENSP00000423976:L199I	ENSP00000321239:L221I	L	-	1	0	RCHY1	76626897	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.757000	0.62213	2.770000	0.95276	0.650000	0.86243	CTC		0.318	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436	
C4orf26	152816	broad.mit.edu	37	4	76489391	76489391	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76489391C>A	ENST00000311623.4	+	2	170	c.135C>A	c.(133-135)atC>atA	p.I45I	C4orf26_ENST00000435974.2_Missense_Mutation_p.S60Y	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	45						extracellular region (GO:0005576)		p.I45I(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACTGCCAGATCTTTACACTCA	0.537																																					p.I45I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C135A	4						.						95.0	96.0	96.0					4																	76489391		2203	4300	6503	76708415	SO:0001819	synonymous_variant	152816	exon2			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.135C>A	4.37:g.76489391C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76708415	NM_178497	B4DTI3|E7ETQ0|Q8TEC3	Silent	SNP	ENST00000311623.4	37	CCDS3569.1	.	.	.	.	.	.	.	.	.	.	C	9.668	1.146075	0.21288	.	.	ENSG00000174792	ENST00000435974	T	0.52526	0.66	4.9	2.2	0.27929	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.23550	N	0.997433	P	0.44816	0.844	B	0.42319	0.383	T	0.27536	-1.0071	8	0.87932	D	0	.	4.47	0.11708	0.1762:0.6384:0.0:0.1854	.	60	E7ETQ0	.	Y	60	ENSP00000406925:S60Y	ENSP00000406925:S60Y	S	+	2	0	C4orf26	76708415	1.000000	0.71417	0.937000	0.37676	0.929000	0.56500	1.205000	0.32308	0.353000	0.24079	0.644000	0.83932	TCT		0.537	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
C4orf26	152816	broad.mit.edu	37	4	76489486	76489486	+	Missense_Mutation	SNP	G	G	A	rs149011730		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76489486G>A	ENST00000311623.4	+	2	265	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	C4orf26_ENST00000435974.2_Missense_Mutation_p.E92K	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	77						extracellular region (GO:0005576)		p.R77Q(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTTTCCACGAAGGCCCAGA	0.517																																					p.R77Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230A	4						.	G	LYS/GLU,GLN/ARG	0,4406		0,0,2203	127.0	128.0	128.0		274,230	-0.6	0.0	4	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C4orf26	NM_001206981.1,NM_178497.3	56,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	92/177,77/131	76489486	2,13004	2203	4300	6503	76708510	SO:0001583	missense	152816	exon2			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.230G>A	4.37:g.76489486G>A	ENSP00000311307:p.Arg77Gln	Somatic		Capture	Illumina HiSeq	Phase_I	76708510	NM_178497	B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	37	CCDS3569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.33|12.33	1.904482|1.904482	0.33628|0.33628	0.0|0.0	2.33E-4|2.33E-4	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|T	0.46063|0.30981	0.88|1.51	4.73|4.73	-0.559|-0.559	0.11792|0.11792	.|.	.|0.492419	.|0.17243	.|N	.|0.181444	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B|P	0.32350|0.35401	0.366|0.499	B|B	0.20184|0.17979	0.028|0.02	T|T	0.26326|0.26326	-1.0106|-1.0106	8|9	.|.	.|.	.|.	.|.	7.9099|7.9099	0.29785|0.29785	0.5455:0.0:0.4545:0.0|0.5455:0.0:0.4545:0.0	.|.	92|77	E7ETQ0|Q17RF5	.|CD026_HUMAN	K|Q	92|77	ENSP00000406925:E92K|ENSP00000311307:R77Q	.|.	E|R	+|+	1|2	0|0	C4orf26|C4orf26	76708510|76708510	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.092000|-0.092000	0.11129|0.11129	-0.266000|-0.266000	0.09339|0.09339	-0.145000|-0.145000	0.13849|0.13849	GAA|CGA		0.517	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
CDKL2	8999	broad.mit.edu	37	4	76522361	76522361	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76522361T>G	ENST00000429927.2	-	9	1783	c.1080A>C	c.(1078-1080)aaA>aaC	p.K360N	CDKL2_ENST00000307465.4_Missense_Mutation_p.K360N	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	360					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.K360N(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTCCATCAATTTTTGAGCCTT	0.338																																					p.K360N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1080C	4						.						70.0	69.0	69.0					4																	76522361		2203	4300	6503	76741385	SO:0001583	missense	8999	exon9			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1080A>C	4.37:g.76522361T>G	ENSP00000412365:p.Lys360Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76741385	NM_003948	B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990309	0.54041	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.74002	0.99;-0.8	4.74	3.51	0.40186	.	.	.	.	.	T	0.75155	0.3811	L	0.34521	1.04	0.24192	N	0.995549	D;D	0.76494	0.999;0.999	D;D	0.71656	0.922;0.974	T	0.62364	-0.6870	9	0.87932	D	0	-13.9562	3.7416	0.08532	0.1908:0.0996:0.0:0.7096	.	360;360	B4DH08;Q92772	.;CDKL2_HUMAN	N	360	ENSP00000412365:K360N;ENSP00000306340:K360N	ENSP00000306340:K360N	K	-	3	2	CDKL2	76741385	0.992000	0.36948	0.637000	0.29366	0.773000	0.43773	2.652000	0.46682	0.773000	0.33404	0.482000	0.46254	AAA		0.338	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
G3BP2	9908	broad.mit.edu	37	4	76571607	76571607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76571607G>A	ENST00000359707.4	-	11	1876	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	G3BP2_ENST00000357854.3_Missense_Mutation_p.T331I|G3BP2_ENST00000395719.3_Missense_Mutation_p.T364I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	364	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.T364I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACACCCTTGGTATTGATGCG	0.348																																					p.T364I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1091T	4						.						138.0	150.0	146.0					4																	76571607		2203	4300	6503	76790631	SO:0001583	missense	9908	exon11			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1091C>T	4.37:g.76571607G>A	ENSP00000352738:p.Thr364Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76790631	NM_203505	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164683	0.94727	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.87966	-2.32;-2.32;-2.32	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	L	0.40543	1.245	0.80722	D	1	D;P	0.76494	0.999;0.823	D;P	0.78314	0.991;0.636	D	0.88567	0.3127	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	331;364	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	I	364;364;331	ENSP00000379069:T364I;ENSP00000352738:T364I;ENSP00000350518:T331I	ENSP00000350518:T331I	T	-	2	0	G3BP2	76790631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.462000	0.97649	2.941000	0.99782	0.655000	0.94253	ACC		0.348	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A	rs267600258		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393																																					p.R78C												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C232T	4						.						199.0	199.0	199.0					4																	76582860		2203	4300	6503	76801884	SO:0001583	missense	9908	exon4			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.232C>T	4.37:g.76582860G>A	ENSP00000352738:p.Arg78Cys	Somatic		Capture	Illumina HiSeq	Phase_I	76801884	NM_203505	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	G3BP2	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT		0.393	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	
NUP54	53371	broad.mit.edu	37	4	77055476	77055476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:77055476C>T	ENST00000264883.3	-	5	702	c.562G>A	c.(562-564)Gat>Aat	p.D188N	NUP54_ENST00000514987.1_Missense_Mutation_p.D140N|NUP54_ENST00000458189.2_Missense_Mutation_p.D8N|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_Missense_Mutation_p.D8N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	188	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.D188N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ACTAGCCCATCTTCATCTTTA	0.338																																					p.D188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	4						.						68.0	60.0	63.0					4																	77055476		2203	4300	6503	77274500	SO:0001583	missense	53371	exon5			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.562G>A	4.37:g.77055476C>T	ENSP00000264883:p.Asp188Asn	Somatic		Capture	Illumina HiSeq	Phase_I	77274500	NM_017426	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279881	0.95489	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.84	5.84	0.93424	.	0.045792	0.85682	D	0.000000	D	0.82815	0.5119	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.984	T	0.78957	-0.1999	9	0.26408	T	0.33	-29.3541	20.1392	0.98050	0.0:1.0:0.0:0.0	.	140;8;188	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	188;8;140;8	.	ENSP00000264883:D188N	D	-	1	0	NUP54	77274500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.209000	0.77916	2.765000	0.95021	0.557000	0.71058	GAT		0.338	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3		
SCARB2	950	broad.mit.edu	37	4	77100662	77100662	+	Intron	SNP	C	C	A	rs368407038		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:77100662C>A	ENST00000264896.2	-	4	962				SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2						cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.?(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AAAGAAAAATCTACTTACCTC	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						62.0	65.0	64.0					4																	77100662		2203	4300	6503	77319686	SO:0001627	intron_variant	950	.			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.612+7G>T	4.37:g.77100662C>A		Somatic		Capture	Illumina HiSeq	Phase_I	77319686	.	B4DKD8|E7EM68|Q53Y63	Intron	SNP	ENST00000264896.2	37	CCDS3577.1																																																																																				0.413	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	
CCDC158	339965	broad.mit.edu	37	4	77317424	77317424	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:77317424C>T	ENST00000388914.3	-	3	438	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.E96K	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	96								p.E96K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAACTCACTTCATTTAGTCTT	0.393																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	4						.						71.0	70.0	70.0					4																	77317424		1873	4101	5974	77536448	SO:0001583	missense	339965	exon3			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.286G>A	4.37:g.77317424C>T	ENSP00000373566:p.Glu96Lys	Somatic		Capture	Illumina HiSeq	Phase_I	77536448	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007302	0.93287	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.38077	1.18;1.16	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000140	T	0.43722	0.1260	N	0.19112	0.55	0.32624	N	0.522887	D;D	0.71674	0.996;0.998	D;D	0.78314	0.99;0.991	T	0.41822	-0.9487	10	0.20519	T	0.43	.	15.8168	0.78608	0.0:1.0:0.0:0.0	.	96;96	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	K	96	ENSP00000373566:E96K;ENSP00000401742:E96K	ENSP00000316815:E96K	E	-	1	0	CCDC158	77536448	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.854000	0.55949	2.809000	0.96659	0.557000	0.71058	GAA		0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
FRAS1	80144	broad.mit.edu	37	4	79173680	79173680	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:79173680C>T	ENST00000325942.6	+	5	884	c.444C>T	c.(442-444)tgC>tgT	p.C148C	FRAS1_ENST00000264899.6_Silent_p.C148C|FRAS1_ENST00000264895.6_Silent_p.C148C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	148	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.C148C(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGAAGCTGCTGCCCAGTTT	0.567																																					p.C148C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C444T	4						.						60.0	63.0	62.0					4																	79173680		1966	4151	6117	79392704	SO:0001819	synonymous_variant	80144	exon5			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.444C>T	4.37:g.79173680C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79392704	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126305	0.20959	.	.	ENSG00000138759	ENST00000502446	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.74824	0.3767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72623	-0.4237	4	.	.	.	.	18.5374	0.91015	0.0:1.0:0.0:0.0	.	.	.	.	V	77	.	.	A	+	2	0	FRAS1	79392704	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.312000	0.43726	2.751000	0.94390	0.650000	0.86243	GCT		0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	broad.mit.edu	37	4	79385258	79385258	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:79385258T>C	ENST00000264895.6	+	48	7287	c.6847T>C	c.(6847-6849)Tca>Cca	p.S2283P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2283					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.S2283P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAGAAACATTCAGATGCCTT	0.423																																					p.S2283P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6847C	4						.						111.0	105.0	107.0					4																	79385258		1977	4154	6131	79604282	SO:0001583	missense	80144	exon48			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6847T>C	4.37:g.79385258T>C	ENSP00000264895:p.Ser2283Pro	Somatic		Capture	Illumina HiSeq	Phase_I	79604282	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.773|7.773	0.707778|0.707778	0.15239|0.15239	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.30448	.|1.53	5.72|5.72	-6.98|-6.98	0.01611|0.01611	.|.	.|0.854949	.|0.10380	.|N	.|0.681676	T|T	0.29028|0.29028	0.0721|0.0721	M|M	0.84511|0.84511	2.7|2.7	0.09310|0.09310	N|N	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.09377	.|0.004	T|T	0.41945|0.41945	-0.9480|-0.9480	5|10	.|0.32370	.|T	.|0.25	.|.	6.9008|6.9008	0.24281|0.24281	0.4296:0.0:0.2195:0.3508|0.4296:0.0:0.2195:0.3508	.|.	.|2283	.|E9PHH6	.|.	S|P	511|2283	.|ENSP00000264895:S2283P	.|ENSP00000264895:S2283P	F|S	+|+	2|1	0|0	FRAS1|FRAS1	79604282|79604282	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.227000|0.227000	0.17795|0.17795	-0.546000|-0.546000	0.06216|0.06216	-0.347000|-0.347000	0.07816|0.07816	TTC|TCA		0.423	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79437039	79437039	+	Nonsense_Mutation	SNP	C	C	T	rs201947516		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:79437039C>T	ENST00000264895.6	+	66	10701	c.10261C>T	c.(10261-10263)Cga>Tga	p.R3421*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3417					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.R3421*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCAGCGTGCGAGAGCCGAA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19468	0.0		0.0	False		,,,				2504	0.0				p.R3421X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C10261T	4	GRCh37	CM083505	FRAS1	M		.	C	stop/ARG	1,4163		0,1,2081	117.0	124.0	122.0		10261	4.1	1.0	4		122	1,8421		0,1,4210	yes	stop-gained	FRAS1	NM_025074.6		0,2,6291	TT,TC,CC		0.0119,0.024,0.0159		3421/4013	79437039	2,12584	2082	4211	6293	79656063	SO:0001587	stop_gained	80144	exon66			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10261C>T	4.37:g.79437039C>T	ENSP00000264895:p.Arg3421*	Somatic		Capture	Illumina HiSeq	Phase_I	79656063	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.813553|9.813553	0.99271|0.99271	2.4E-4|2.4E-4	1.19E-4|1.19E-4	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.97|5.97	4.07|4.07	0.47477|0.47477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.40719|.	0.1128|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28138|.	-1.0053|.	4|.	.|0.02654	.|T	.|1	.|.	14.0605|14.0605	0.64797|0.64797	0.4138:0.5862:0.0:0.0|0.4138:0.5862:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1649|3421	.|.	.|ENSP00000264895:R3421X	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79656063|79656063	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.465000|0.465000	0.32709|0.32709	1.020000|1.020000	0.30027|0.30027	1.532000|1.532000	0.49169|0.49169	-0.230000|-0.230000	0.12252|0.12252	GCG|CGA		0.557	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79440632	79440632	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:79440632A>G	ENST00000264895.6	+	67	10977	c.10537A>G	c.(10537-10539)Aca>Gca	p.T3513A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3509					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.T3513A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTGGAGAACAGGTATGCC	0.473																																					p.T3513A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10537G	4						.						192.0	186.0	188.0					4																	79440632		1891	4117	6008	79659656	SO:0001583	missense	80144	exon67			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10537A>G	4.37:g.79440632A>G	ENSP00000264895:p.Thr3513Ala	Somatic		Capture	Illumina HiSeq	Phase_I	79659656	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.88|18.88	3.718151|3.718151	0.68844|0.68844	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.12147	.|2.71	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32346|0.32346	0.0826|0.0826	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.01319|0.01319	-1.1386|-1.1386	5|10	.|0.46703	.|T	.|0.11	.|.	15.6989|15.6989	0.77528|0.77528	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3513	.|E9PHH6	.|.	S|A	1741|3513	.|ENSP00000264895:T3513A	.|ENSP00000264895:T3513A	N|T	+|+	2|1	0|0	FRAS1|FRAS1	79659656|79659656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	8.829000|8.829000	0.92055|0.92055	2.107000|2.107000	0.64212|0.64212	0.482000|0.482000	0.46254|0.46254	AAC|ACA		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79460507	79460507	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:79460507C>A	ENST00000264895.6	+	73	11798	c.11358C>A	c.(11356-11358)caC>caA	p.H3786Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3782					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.H3786Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGAGGCTCACTTTGCCTCTG	0.418																																					p.H3786Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11358A	4						.						156.0	154.0	154.0					4																	79460507		1920	4145	6065	79679531	SO:0001583	missense	80144	exon73			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11358C>A	4.37:g.79460507C>A	ENSP00000264895:p.His3786Gln	Somatic		Capture	Illumina HiSeq	Phase_I	79679531	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.166933|3.166933	0.57476|0.57476	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.63744|.	-0.06|.	5.87|5.87	4.15|4.15	0.48705|0.48705	.|.	0.113531|.	0.64402|.	D|.	0.000012|.	T|T	0.49064|0.49064	0.1535|0.1535	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.59424|.	0.857|.	T|T	0.35301|0.35301	-0.9794|-0.9794	10|5	0.35671|.	T|.	0.21|.	.|.	11.0522|11.0522	0.47896|0.47896	0.0:0.7988:0.0:0.2012|0.0:0.7988:0.0:0.2012	.|.	3786|.	E9PHH6|.	.|.	Q|I	3786|2015	ENSP00000264895:H3786Q|.	ENSP00000264895:H3786Q|.	H|L	+|+	3|1	2|0	FRAS1|FRAS1	79679531|79679531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	2.568000|2.568000	0.45965|0.45965	0.812000|0.812000	0.34326|0.34326	0.655000|0.655000	0.94253|0.94253	CAC|CTT		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NAA11	84779	broad.mit.edu	37	4	80246960	80246960	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:80246960C>A	ENST00000286794.4	-	1	244	c.72G>T	c.(70-72)gaG>gaT	p.E24D	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	24	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.E24D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTGGTAGTTCTCAGGAAGGC	0.498																																					p.E24D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G72T	4						.						103.0	101.0	102.0					4																	80246960		2190	4299	6489	80465984	SO:0001583	missense	84779	exon1				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.72G>T	4.37:g.80246960C>A	ENSP00000286794:p.Glu24Asp	Somatic		Capture	Illumina HiSeq	Phase_I	80465984	NM_032693	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918722	0.52546	.	.	ENSG00000156269	ENST00000286794	T	0.31769	1.48	5.04	4.2	0.49525	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.64371	0.2592	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.73000	-0.4120	9	.	.	.	-24.2446	11.3191	0.49410	0.0:0.9101:0.0:0.0899	.	24	Q9BSU3	NAA11_HUMAN	D	24	ENSP00000286794:E24D	.	E	-	3	2	NAA11	80465984	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	2.379000	0.44318	2.793000	0.96121	0.563000	0.77884	GAG		0.498	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1		
GK2	2712	broad.mit.edu	37	4	80328290	80328290	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:80328290A>C	ENST00000358842.3	-	1	1082	c.1065T>G	c.(1063-1065)tcT>tcG	p.S355S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.S355S(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AACAGCCATAAGAAGTTCCTA	0.433																																					p.S355S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1065G	4						.						111.0	105.0	107.0					4																	80328290		2203	4300	6503	80547314	SO:0001819	synonymous_variant	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1065T>G	4.37:g.80328290A>C		Somatic		Capture	Illumina HiSeq	Phase_I	80547314	NM_033214	Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	CCDS3585.1																																																																																				0.433	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
ANTXR2	118429	broad.mit.edu	37	4	80899213	80899213	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:80899213C>T	ENST00000307333.7	-	15	1297	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	ANTXR2_ENST00000404191.1_Missense_Mutation_p.R355Q|ANTXR2_ENST00000346652.6_Missense_Mutation_p.R329Q|ANTXR2_ENST00000403729.2_Missense_Mutation_p.R432Q	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	432					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R432Q(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGGTTTGGGTCGAGGTGGTCT	0.453									Juvenile Hyaline Fibromatosis																												p.R432Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1295A	4						.						281.0	274.0	276.0					4																	80899213		1928	4132	6060	81118237	SO:0001583	missense	118429	exon15	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1295G>A	4.37:g.80899213C>T	ENSP00000306185:p.Arg432Gln	Somatic		Capture	Illumina HiSeq	Phase_I	81118237	NM_001145794	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	C	5.989	0.366358	0.11352	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.78	2.85	0.33270	Anthrax toxin receptor, C-terminal (2);	0.577015	0.17955	N	0.156385	T	0.65533	0.2700	L	0.43152	1.355	0.09310	N	1	B;B;B	0.17852	0.013;0.024;0.019	B;B;B	0.20384	0.002;0.029;0.01	T	0.50857	-0.8778	10	0.26408	T	0.33	-2.7849	4.912	0.13827	0.0:0.5163:0.1466:0.3371	.	329;432;432	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	Q	432;355;329;432	ENSP00000385575:R432Q;ENSP00000384028:R355Q;ENSP00000314883:R329Q;ENSP00000306185:R432Q	ENSP00000306185:R432Q	R	-	2	0	ANTXR2	81118237	0.003000	0.15002	0.000000	0.03702	0.025000	0.11179	0.864000	0.27926	0.264000	0.21851	0.585000	0.79938	CGA		0.453	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
FGF5	2250	broad.mit.edu	37	4	81207672	81207672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:81207672G>T	ENST00000312465.7	+	3	879	c.653G>T	c.(652-654)aGa>aTa	p.R218I	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	218					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.R218I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTTCTGCCAAGATTCAAGCAG	0.502																																					p.R218I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653T	4						.						76.0	79.0	78.0					4																	81207672		2203	4300	6503	81426696	SO:0001583	missense	2250	exon3			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.653G>T	4.37:g.81207672G>T	ENSP00000311697:p.Arg218Ile	Somatic		Capture	Illumina HiSeq	Phase_I	81426696	NM_004464	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227140	0.58668	.	.	ENSG00000138675	ENST00000312465	T	0.68181	-0.31	5.68	5.68	0.88126	.	0.040237	0.85682	D	0.000000	T	0.76104	0.3941	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.77938	-0.2400	10	0.87932	D	0	.	19.7923	0.96464	0.0:0.0:1.0:0.0	.	218	P12034	FGF5_HUMAN	I	218	ENSP00000311697:R218I	ENSP00000311697:R218I	R	+	2	0	FGF5	81426696	1.000000	0.71417	0.838000	0.33150	0.008000	0.06430	7.797000	0.85911	2.693000	0.91896	0.655000	0.94253	AGA		0.502	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
BMP3	651	broad.mit.edu	37	4	81967605	81967605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:81967605C>T	ENST00000282701.2	+	2	1350	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	344					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.R344W(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGGCCTCATCGGAAGAGCCA	0.493																																					p.R344W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1030T	4						.						45.0	46.0	46.0					4																	81967605		2203	4300	6503	82186629	SO:0001583	missense	651	exon2			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1030C>T	4.37:g.81967605C>T	ENSP00000282701:p.Arg344Trp	Somatic		Capture	Illumina HiSeq	Phase_I	82186629	NM_001201	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038312	0.19669	.	.	ENSG00000152785	ENST00000282701	T	0.74737	-0.87	5.16	3.28	0.37604	.	0.211174	0.50627	D	0.000103	T	0.53981	0.1830	N	0.08118	0	0.09310	N	0.999994	B	0.28291	0.206	B	0.13407	0.009	T	0.54807	-0.8238	10	0.66056	D	0.02	.	14.8548	0.70329	0.0:0.7271:0.2729:0.0	.	344	P12645	BMP3_HUMAN	W	344	ENSP00000282701:R344W	ENSP00000282701:R344W	R	+	1	2	BMP3	82186629	0.997000	0.39634	0.381000	0.26106	0.009000	0.06853	3.559000	0.53756	1.287000	0.44583	-0.175000	0.13238	CGG		0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
PRKG2	5593	broad.mit.edu	37	4	82056361	82056361	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:82056361C>A	ENST00000395578.1	-	14	1840	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	PRKG2_ENST00000264399.1_Missense_Mutation_p.R575I|PRKG2_ENST00000418486.2_Missense_Mutation_p.R546I|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.R155I			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.R575I(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCAAGTCTCTGTAGATAAT	0.403																																					p.R575I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1724T	4						.						134.0	130.0	132.0					4																	82056361		2203	4300	6503	82275385	SO:0001583	missense	5593	exon13			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1724G>T	4.37:g.82056361C>A	ENSP00000378945:p.Arg575Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82275385	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318742	0.81469	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.77	5.77	0.91146	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	0.65923	0.2738	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79259	-0.1877	10	0.87932	D	0	-28.2886	19.5855	0.95488	0.0:1.0:0.0:0.0	.	546;575	E7EPE6;Q13237	.;KGP2_HUMAN	I	575;575;546;155	ENSP00000378945:R575I;ENSP00000264399:R575I;ENSP00000389038:R546I;ENSP00000439967:R155I	ENSP00000264399:R575I	R	-	2	0	PRKG2	82275385	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	7.764000	0.85297	2.720000	0.93068	0.650000	0.86243	AGA		0.403	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
PRKG2	5593	broad.mit.edu	37	4	82088304	82088304	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:82088304A>C	ENST00000395578.1	-	6	1029				PRKG2_ENST00000264399.1_Intron|RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000418486.2_Intron			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTTACTTCAAAATTTCTTAC	0.279																																					.												.	.	0			.	4						.						19.0	21.0	20.0					4																	82088304		2175	4260	6435	82307328	SO:0001627	intron_variant	5593	.			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.912+10T>G	4.37:g.82088304A>C		Somatic		Capture	Illumina HiSeq	Phase_I	82307328	.	B4DMX3|E7EPE6|O00125|O60916	Intron	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																				0.279	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
ENOPH1	58478	broad.mit.edu	37	4	83369094	83369094	+	Missense_Mutation	SNP	G	G	A	rs374821138		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:83369094G>A	ENST00000273920.3	+	2	374	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.E36K(1)|p.E36Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TCCTTACATCGAAGAAAATGT	0.368																																					p.E36K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G106A	4						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		106	0.1	1.0	4		77	0,8600		0,0,4300	no	missense	ENOPH1	NM_021204.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	36/262	83369094	1,13005	2203	4300	6503	83588118	SO:0001583	missense	58478	exon2				CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.106G>A	4.37:g.83369094G>A	ENSP00000273920:p.Glu36Lys	Somatic		Capture	Illumina HiSeq	Phase_I	83588118	NM_021204		Missense_Mutation	SNP	ENST00000273920.3	37	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	5.030	0.191206	0.09547	2.27E-4	0.0	ENSG00000145293	ENST00000273920;ENST00000456931	T	0.05447	3.44	5.62	0.0525	0.14302	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.229809	0.48286	N	0.000190	T	0.01592	0.0051	N	0.00841	-1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50154	-0.8861	10	0.15066	T	0.55	-3.2829	6.4836	0.22077	0.6221:0.2423:0.1356:0.0	.	36	Q9UHY7	ENOPH_HUMAN	K	36	ENSP00000273920:E36K	ENSP00000273920:E36K	E	+	1	0	ENOPH1	83588118	1.000000	0.71417	0.997000	0.53966	0.128000	0.20619	3.333000	0.52090	0.154000	0.19237	-1.078000	0.02229	GAA		0.368	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204	
ENOPH1	58478	broad.mit.edu	37	4	83375977	83375977	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:83375977C>T	ENST00000273920.3	+	4	760	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ENOPH1_ENST00000509635.1_Silent_p.F76F	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.F164F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AACTGTTATTCGGGCATTCTA	0.423																																					p.F164F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	4						.						260.0	237.0	244.0					4																	83375977		2203	4300	6503	83595001	SO:0001819	synonymous_variant	58478	exon4				CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.492C>T	4.37:g.83375977C>T		Somatic		Capture	Illumina HiSeq	Phase_I	83595001	NM_021204		Silent	SNP	ENST00000273920.3	37	CCDS3594.1																																																																																				0.423	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204	
THAP9	79725	broad.mit.edu	37	4	83827713	83827713	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:83827713T>G	ENST00000302236.5	+	3	564	c.513T>G	c.(511-513)atT>atG	p.I171M		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	171					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.I171M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TACGATTAATTGATGCACTTG	0.383																																					p.I171M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T513G	4						.						69.0	68.0	68.0					4																	83827713		2203	4300	6503	84046737	SO:0001583	missense	79725	exon3			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.513T>G	4.37:g.83827713T>G	ENSP00000305533:p.Ile171Met	Somatic		Capture	Illumina HiSeq	Phase_I	84046737	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727617	0.30593	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.39229	1.09	3.87	1.45	0.22620	.	0.164731	0.29806	N	0.011146	T	0.43322	0.1242	L	0.29908	0.895	0.25087	N	0.990887	D	0.71674	0.998	D	0.76071	0.987	T	0.17776	-1.0358	10	0.33141	T	0.24	-18.935	5.351	0.16036	0.0:0.2333:0.0:0.7667	.	171	Q9H5L6	THAP9_HUMAN	M	171	ENSP00000305533:I171M	ENSP00000305533:I171M	I	+	3	3	THAP9	84046737	0.996000	0.38824	0.995000	0.50966	0.977000	0.68977	0.039000	0.13884	0.333000	0.23563	0.482000	0.46254	ATT		0.383	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
THAP9	79725	broad.mit.edu	37	4	83838260	83838260	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:83838260T>G	ENST00000302236.5	+	5	946	c.895T>G	c.(895-897)Ttg>Gtg	p.L299V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	299			L -> F (in dbSNP:rs897945). {ECO:0000269|PubMed:14702039}.		DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.L299V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAGTCACAGTTTGCAGGGGTT	0.413																																					p.L299V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T895G	4						.						137.0	128.0	131.0					4																	83838260		2203	4300	6503	84057284	SO:0001583	missense	79725	exon5			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.895T>G	4.37:g.83838260T>G	ENSP00000305533:p.Leu299Val	Somatic		Capture	Illumina HiSeq	Phase_I	84057284	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	9.594	1.126803	0.20959	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.43294	0.95	3.7	-0.245	0.13027	.	1.365610	0.05330	N	0.528170	T	0.26882	0.0658	L	0.43152	1.355	0.54753	D	0.999981	P	0.37061	0.58	B	0.32090	0.14	T	0.41215	-0.9521	10	0.10111	T	0.7	-2.6801	2.9826	0.05958	0.198:0.3447:0.0:0.4573	.	299	Q9H5L6	THAP9_HUMAN	V	299	ENSP00000305533:L299V	ENSP00000305533:L299V	L	+	1	2	THAP9	84057284	0.010000	0.17322	0.979000	0.43373	0.177000	0.22998	-0.118000	0.10692	-0.021000	0.14009	-0.256000	0.11100	TTG		0.413	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
HPSE	10855	broad.mit.edu	37	4	84231969	84231969	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:84231969G>T	ENST00000405413.2	-	6	884	c.748C>A	c.(748-750)Cat>Aat	p.H250N	HPSE_ENST00000512196.1_Missense_Mutation_p.H250N|HPSE_ENST00000513463.1_Missense_Mutation_p.H192N|HPSE_ENST00000311412.5_Missense_Mutation_p.H250N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	250					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.H250N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	AGAAGTTTATGCAATTGAATA	0.383																																					p.H250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748A	4						.						132.0	130.0	131.0					4																	84231969		2203	4300	6503	84450993	SO:0001583	missense	10855	exon6			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.748C>A	4.37:g.84231969G>T	ENSP00000384262:p.His250Asn	Somatic		Capture	Illumina HiSeq	Phase_I	84450993	NM_001166498	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303557	0.40795	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.2	5.2	0.72013	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.705023	0.14582	N	0.310803	T	0.45796	0.1360	L	0.61036	1.89	0.26980	N	0.965387	P;P;P	0.45428	0.549;0.835;0.858	B;B;P	0.49387	0.423;0.371;0.609	T	0.37079	-0.9721	10	0.51188	T	0.08	-4.3993	18.5366	0.91013	0.0:0.0:1.0:0.0	.	250;192;250	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	N	250;250;250;192	ENSP00000308107:H250N;ENSP00000384262:H250N;ENSP00000423265:H250N;ENSP00000421365:H192N	ENSP00000308107:H250N	H	-	1	0	HPSE	84450993	0.992000	0.36948	0.830000	0.32933	0.892000	0.51952	4.170000	0.58229	2.706000	0.92434	0.585000	0.79938	CAT		0.383	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
HELQ	113510	broad.mit.edu	37	4	84350880	84350880	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:84350880T>C	ENST00000295488.3	-	12	2477	c.2315A>G	c.(2314-2316)gAc>gGc	p.D772G	HELQ_ENST00000510985.1_Missense_Mutation_p.D705G	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	772					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D772G(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGATAGATGTCATCAAGATT	0.323								Other identified genes with known or suspected DNA repair function																													p.D772G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2315G	4						.						40.0	36.0	37.0					4																	84350880		2200	4298	6498	84569904	SO:0001583	missense	113510	exon12			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2315A>G	4.37:g.84350880T>C	ENSP00000295488:p.Asp772Gly	Somatic		Capture	Illumina HiSeq	Phase_I	84569904	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	9.609	1.130859	0.21041	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.48836	0.8;0.8	5.22	4.02	0.46733	.	0.192944	0.45606	D	0.000346	T	0.49813	0.1579	M	0.79693	2.465	0.46167	D	0.998907	B;B	0.14805	0.007;0.011	B;B	0.17722	0.004;0.019	T	0.55522	-0.8128	10	0.56958	D	0.05	-9.0364	11.221	0.48855	0.0:0.0741:0.0:0.9259	.	705;772	E3W980;Q8TDG4	.;HELQ_HUMAN	G	772;705	ENSP00000295488:D772G;ENSP00000424539:D705G	ENSP00000295488:D772G	D	-	2	0	HELQ	84569904	0.996000	0.38824	0.968000	0.41197	0.407000	0.30961	3.210000	0.51129	1.959000	0.56917	0.383000	0.25322	GAC		0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
FAM175A	84142	broad.mit.edu	37	4	84391408	84391408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:84391408C>A	ENST00000321945.7	-	5	532	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	FAM175A_ENST00000506553.1_Nonsense_Mutation_p.E93*|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	142					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.E142*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GAGCAGCTTTCTGTTATTATA	0.363																																					p.E142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G424T	4						.						89.0	94.0	92.0					4																	84391408		2203	4300	6503	84610432	SO:0001587	stop_gained	84142	exon5			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.424G>T	4.37:g.84391408C>A	ENSP00000369857:p.Glu142*	Somatic		Capture	Illumina HiSeq	Phase_I	84610432	NM_139076	A5JJ07|Q9H8I1|Q9H9N4	Nonsense_Mutation	SNP	ENST00000321945.7	37	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	C	37	6.254094	0.97417	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	5.9	0.94986	.	0.156736	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-23.7471	15.8407	0.78842	0.1363:0.8637:0.0:0.0	.	.	.	.	X	142;93;93	.	ENSP00000369857:E142X	E	-	1	0	FAM175A	84610432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.705000	0.47127	2.786000	0.95864	0.563000	0.77884	GAA		0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	
AGPAT9	84803	broad.mit.edu	37	4	84519836	84519836	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:84519836T>C	ENST00000395226.2	+	12	1383	c.1165T>C	c.(1165-1167)Tct>Cct	p.S389P	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S389P|AGPAT9_ENST00000509044.1_3'UTR	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	389					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.S389P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAGGGTTAAGTCTGCTATTGC	0.308																																					p.S389P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1165C	4						.						86.0	91.0	89.0					4																	84519836		2203	4300	6503	84738860	SO:0001583	missense	84803	exon11			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1165T>C	4.37:g.84519836T>C	ENSP00000378651:p.Ser389Pro	Somatic		Capture	Illumina HiSeq	Phase_I	84738860	NM_032717	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.922761	0.73213	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.66689	-0.5860	10	0.39692	T	0.17	-15.8959	15.6633	0.77206	0.0:0.0:0.0:1.0	.	389	Q53EU6	GPAT3_HUMAN	P	389	ENSP00000378651:S389P;ENSP00000264409:S389P	ENSP00000264409:S389P	S	+	1	0	AGPAT9	84738860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.323000	0.52014	2.090000	0.63153	0.455000	0.32223	TCT		0.308	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
WDFY3	23001	broad.mit.edu	37	4	85612867	85612867	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85612867G>T	ENST00000295888.4	-	60	9528	c.9121C>A	c.(9121-9123)Ctt>Att	p.L3041I	WDFY3_ENST00000322366.6_Missense_Mutation_p.L3024I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3041	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L3041I(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGGGATAAGAACCTTATTC	0.408																																					p.L3041I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9121A	4						.						113.0	103.0	106.0					4																	85612867		2203	4300	6503	85831891	SO:0001583	missense	23001	exon60			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9121C>A	4.37:g.85612867G>T	ENSP00000295888:p.Leu3041Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85831891	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106174	0.77096	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.38077	1.16;1.16	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.66933	-0.5798	10	0.52906	T	0.07	.	19.7663	0.96342	0.0:0.0:1.0:0.0	.	3041	Q8IZQ1	WDFY3_HUMAN	I	3024;3041	ENSP00000318466:L3024I;ENSP00000295888:L3041I	ENSP00000295888:L3041I	L	-	1	0	WDFY3	85831891	1.000000	0.71417	0.801000	0.32222	0.240000	0.25518	7.930000	0.87610	2.741000	0.93983	0.650000	0.86243	CTT		0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85623552	85623552	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85623552G>T	ENST00000295888.4	-	56	8957	c.8550C>A	c.(8548-8550)ttC>ttA	p.F2850L	WDFY3_ENST00000322366.6_Missense_Mutation_p.F2833L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2850	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.F2850L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAAATAAAAGAACTCTGGGA	0.433																																					p.F2850L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8550A	4						.						96.0	105.0	102.0					4																	85623552		2203	4300	6503	85842576	SO:0001583	missense	23001	exon56			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8550C>A	4.37:g.85623552G>T	ENSP00000295888:p.Phe2850Leu	Somatic		Capture	Illumina HiSeq	Phase_I	85842576	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729669	0.69074	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.71461	-0.57;-0.57;-0.57	5.86	0.305	0.15801	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82888	-0.0234	10	0.66056	D	0.02	.	11.5526	0.50729	0.4663:0.0:0.5337:0.0	.	2850	Q8IZQ1	WDFY3_HUMAN	L	2833;2850;453	ENSP00000318466:F2833L;ENSP00000295888:F2850L;ENSP00000424987:F453L	ENSP00000295888:F2850L	F	-	3	2	WDFY3	85842576	1.000000	0.71417	0.998000	0.56505	0.661000	0.39034	2.283000	0.43470	0.052000	0.16007	-0.312000	0.09012	TTC		0.433	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85634389	85634389	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85634389A>T	ENST00000295888.4	-	51	8372	c.7965T>A	c.(7963-7965)ttT>ttA	p.F2655L	WDFY3_ENST00000322366.6_Missense_Mutation_p.F2638L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2655	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.F2655L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTACAGCCAAAAACCTGAAAA	0.418																																					p.F2655L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7965A	4						.						126.0	126.0	126.0					4																	85634389		2203	4300	6503	85853413	SO:0001583	missense	23001	exon51			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7965T>A	4.37:g.85634389A>T	ENSP00000295888:p.Phe2655Leu	Somatic		Capture	Illumina HiSeq	Phase_I	85853413	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783571	0.31593	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.60797	0.22;0.23;0.16	5.65	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	N	0.02275	-0.615	0.80722	D	1	B	0.27140	0.169	B	0.20577	0.03	T	0.24154	-1.0168	10	0.02654	T	1	.	8.0857	0.30771	0.784:0.0:0.216:0.0	.	2655	Q8IZQ1	WDFY3_HUMAN	L	2638;2655;258	ENSP00000318466:F2638L;ENSP00000295888:F2655L;ENSP00000424987:F258L	ENSP00000295888:F2655L	F	-	3	2	WDFY3	85853413	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.669000	0.46825	0.527000	0.28560	0.533000	0.62120	TTT		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85711007	85711007	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85711007G>A	ENST00000295888.4	-	22	3948	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1181C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1181					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R1181C(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCGAAAGCGAGCACAGCAT	0.413																																					p.R1181C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3541T	4						.						113.0	108.0	110.0					4																	85711007		2203	4300	6503	85930031	SO:0001583	missense	23001	exon22			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3541C>T	4.37:g.85711007G>A	ENSP00000295888:p.Arg1181Cys	Somatic		Capture	Illumina HiSeq	Phase_I	85930031	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836002	0.71373	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.71817	-0.6;-0.6	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);	0.052572	0.85682	D	0.000000	T	0.72479	0.3465	M	0.74647	2.275	0.80722	D	1	B	0.21688	0.059	B	0.17722	0.019	T	0.72462	-0.4286	10	0.56958	D	0.05	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	1181	Q8IZQ1	WDFY3_HUMAN	C	1181	ENSP00000318466:R1181C;ENSP00000295888:R1181C	ENSP00000295888:R1181C	R	-	1	0	WDFY3	85930031	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.474000	0.81024	2.365000	0.80145	0.561000	0.74099	CGC		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358																																					p.V280V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	4						.						87.0	92.0	90.0					4																	85750273		2203	4300	6503	85969297	SO:0001819	synonymous_variant	23001	exon9			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.840C>T	4.37:g.85750273G>A		Somatic		Capture	Illumina HiSeq	Phase_I	85969297	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																				0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85771108	85771108	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:85771108A>T	ENST00000295888.4	-	5	658	c.251T>A	c.(250-252)gTc>gAc	p.V84D	WDFY3_ENST00000322366.6_Missense_Mutation_p.V84D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	84					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V84D(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGTCGTGAGACTTGTGTTGT	0.363																																					p.V84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T251A	4						.						137.0	133.0	135.0					4																	85771108		2203	4300	6503	85990132	SO:0001583	missense	23001	exon5			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.251T>A	4.37:g.85771108A>T	ENSP00000295888:p.Val84Asp	Somatic		Capture	Illumina HiSeq	Phase_I	85990132	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.3|28.3	4.906533|4.906533	0.92107|0.92107	.|.	.|.	ENSG00000163625|ENSG00000163625	ENST00000514071|ENST00000322366;ENST00000295888	.|T;T	.|0.71934	.|-0.61;-0.61	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.68943	.|0.961;0.961	D|D	0.83729|0.83729	0.0197|0.0197	5|10	.|0.87932	.|D	.|0	.|.	15.5483|15.5483	0.76126|0.76126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|84;84	.|E2QRK8;Q8IZQ1	.|.;WDFY3_HUMAN	T|D	21|84	.|ENSP00000318466:V84D;ENSP00000295888:V84D	.|ENSP00000295888:V84D	S|V	-|-	1|2	0|0	WDFY3|WDFY3	85990132|85990132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.203000|9.203000	0.95033|0.95033	2.208000|2.208000	0.71279|0.71279	0.533000|0.533000	0.62120|0.62120	TCT|GTC		0.363	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
MAPK10	5602	broad.mit.edu	37	4	86988942	86988942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:86988942C>A	ENST00000359221.3	-	10	1495	c.969G>T	c.(967-969)gaG>gaT	p.E323D	MAPK10_ENST00000395166.1_Missense_Mutation_p.E285D|MAPK10_ENST00000395169.3_Missense_Mutation_p.E285D|MAPK10_ENST00000395157.3_Missense_Mutation_p.E178D|MAPK10_ENST00000449047.2_Missense_Mutation_p.E178D|MAPK10_ENST00000361569.2_Missense_Mutation_p.E323D|MAPK10_ENST00000395160.3_Missense_Mutation_p.E178D|MAPK10_ENST00000395161.2_Missense_Mutation_p.E323D			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.E178D(1)|p.E323D(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GTTTATTGTGCTCGGAGTCCG	0.498																																					p.E178D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G534T	4						.						109.0	99.0	103.0					4																	86988942		2203	4300	6503	87207966	SO:0001583	missense	5602	exon5			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.969G>T	4.37:g.86988942C>A	ENSP00000352157:p.Glu323Asp	Somatic		Capture	Illumina HiSeq	Phase_I	87207966	NM_138981	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.977925|2.977925	0.53720|0.53720	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|D;D;D;D;D;D;D;D	.|0.83075	.|-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.46|5.46	4.62|4.62	0.57501|0.57501	.|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|T	0.74884|0.74884	0.3775|0.3775	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.11329	.|0.004;0.004;0.002;0.003;0.006	T|T	0.69687|0.69687	-0.5078|-0.5078	5|10	.|0.39692	.|T	.|0.17	-22.044|-22.044	9.4508|9.4508	0.38725|0.38725	0.0:0.7956:0.0:0.2044|0.0:0.7956:0.0:0.2044	.|.	.|209;178;285;323;323	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	S|D	236|285;323;178;323;285;178;178;323	.|ENSP00000378598:E285D;ENSP00000352157:E323D;ENSP00000378586:E178D;ENSP00000355297:E323D;ENSP00000378595:E285D;ENSP00000378589:E178D;ENSP00000414469:E178D;ENSP00000378590:E323D	.|ENSP00000352157:E323D	A|E	-|-	1|3	0|2	MAPK10|MAPK10	87207966|87207966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.120000|1.120000	0.31271|0.31271	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GCA|GAG		0.498	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:87671632C>T	ENST00000411767.2	+	18	2723	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Missense_Mutation_p.S887L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	887					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S887L(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413																																					p.S887L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2660T	4						.						152.0	149.0	150.0					4																	87671632		1883	4121	6004	87890656	SO:0001583	missense	5783	exon18				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2660C>T	4.37:g.87671632C>T	ENSP00000407249:p.Ser887Leu	Somatic		Capture	Illumina HiSeq	Phase_I	87890656	NM_080683	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319143	0.81469	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54675	0.56;0.62;0.61;0.62	5.9	5.9	0.94986	.	0.000000	0.43110	D	0.000609	T	0.70753	0.3260	M	0.62723	1.935	0.49798	D	0.999821	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.64410	0.925;0.918;0.925	T	0.70182	-0.4942	10	0.59425	D	0.04	.	20.274	0.98482	0.0:1.0:0.0:0.0	.	887;887;887	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	L	887;887;887;887;855	ENSP00000408368:S887L;ENSP00000394794:S887L;ENSP00000407249:S887L;ENSP00000426626:S887L	ENSP00000349909:S855L	S	+	2	0	PTPN13	87890656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.024000	0.70857	2.797000	0.96272	0.650000	0.86243	TCG		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87692602	87692602	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:87692602T>C	ENST00000411767.2	+	31	5145	c.5082T>C	c.(5080-5082)caT>caC	p.H1694H	PTPN13_ENST00000511467.1_Silent_p.H1699H|PTPN13_ENST00000427191.2_Silent_p.H1675H|PTPN13_ENST00000316707.6_Silent_p.H1503H|PTPN13_ENST00000436978.1_Silent_p.H1699H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1694					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.H1699H(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAGTCATCATGAAGCACCCA	0.403																																					p.H1694H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5082C	4						.						98.0	97.0	97.0					4																	87692602		2033	4196	6229	87911626	SO:0001819	synonymous_variant	5783	exon31				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5082T>C	4.37:g.87692602T>C		Somatic		Capture	Illumina HiSeq	Phase_I	87911626	NM_080683	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																				0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
AFF1	4299	broad.mit.edu	37	4	88035513	88035513	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:88035513T>G	ENST00000307808.6	+	11	1932				AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1						positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTTTCCTTATTTTTAGCCTGA	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						12.0	16.0	15.0					4																	88035513		2054	4086	6140	88254537	SO:0001627	intron_variant	4299	.			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1513-6T>G	4.37:g.88035513T>G		Somatic		Capture	Illumina HiSeq	Phase_I	88254537	.	B4DTU1|E9PBM3	Intron	SNP	ENST00000307808.6	37	CCDS3616.1																																																																																				0.458	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
DMP1	1758	broad.mit.edu	37	4	88584026	88584026	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:88584026G>T	ENST00000339673.6	+	6	1195	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D350Y|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	366					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)	p.D366Y(1)		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)		GTCCAGGGGAGATAACCCCGA	0.537																																					p.D350Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048T	4						.						158.0	160.0	160.0					4																	88584026		2203	4300	6503	88803050	SO:0001583	missense	1758	exon5			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.1096G>T	4.37:g.88584026G>T	ENSP00000340935:p.Asp366Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	88803050	NM_001079911	A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444010	0.43429	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60171	0.21;0.21	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000007	T	0.76463	0.3991	M	0.76328	2.33	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79191	-0.1905	10	0.87932	D	0	-36.1546	16.9946	0.86363	0.0:0.0:1.0:0.0	.	350;366	Q13316-2;Q13316	.;DMP1_HUMAN	Y	366;350	ENSP00000340935:D366Y;ENSP00000282479:D350Y	ENSP00000282479:D350Y	D	+	1	0	DMP1	88803050	0.930000	0.31532	0.806000	0.32338	0.009000	0.06853	2.471000	0.45127	2.523000	0.85059	0.655000	0.94253	GAT		0.537	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1		
PKD2	5311	broad.mit.edu	37	4	88989098	88989098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:88989098C>T	ENST00000508588.1	+	8	1056	c.661C>T	c.(661-663)Cga>Tga	p.R221*	PKD2_ENST00000237596.2_Nonsense_Mutation_p.R803*|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Nonsense_Mutation_p.R221*			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R803*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CATGAGCAGCCGAAGTTTCCC	0.517																																					p.R803X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2407T	4	GRCh37	CM012179	PKD2	M		.						128.0	114.0	119.0					4																	88989098		2203	4300	6503	89208122	SO:0001587	stop_gained	5311	exon13			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.661C>T	4.37:g.88989098C>T	ENSP00000427131:p.Arg221*	Somatic		Capture	Illumina HiSeq	Phase_I	89208122	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	C	40	8.274272	0.98737	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.68	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3324	14.6202	0.68579	0.2739:0.7261:0.0:0.0	.	.	.	.	X	803;221;221	.	ENSP00000237596:R803X	R	+	1	2	PKD2	89208122	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	2.800000	0.47900	0.674000	0.31244	0.563000	0.77884	CGA		0.517	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
ABCG2	9429	broad.mit.edu	37	4	89013397	89013397	+	Missense_Mutation	SNP	T	T	C	rs372911459		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89013397T>C	ENST00000237612.3	-	16	2502	c.1957A>G	c.(1957-1959)Aaa>Gaa	p.K653E	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	653					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K653E(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAAGAATATTTTTTAAGAAAT	0.338																																					p.K653E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1957G	4						.	T	GLU/LYS	0,4404		0,0,2202	38.0	41.0	40.0		1957	4.6	1.0	4		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG2	NM_004827.2	56	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	653/656	89013397	1,13003	2202	4300	6502	89232421	SO:0001583	missense	9429	exon16			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1957A>G	4.37:g.89013397T>C	ENSP00000237612:p.Lys653Glu	Somatic		Capture	Illumina HiSeq	Phase_I	89232421	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357959	0.82243	0.0	1.16E-4	ENSG00000118777	ENST00000237612	D	0.86627	-2.15	5.81	4.64	0.57946	.	0.085280	0.85682	D	0.000000	D	0.92828	0.7719	M	0.81497	2.545	0.50467	D	0.999879	D	0.89917	1.0	D	0.91635	0.999	D	0.92837	0.6285	10	0.72032	D	0.01	-5.2972	11.4158	0.49951	0.0:0.0708:0.0:0.9292	.	653	Q9UNQ0	ABCG2_HUMAN	E	653	ENSP00000237612:K653E	ENSP00000237612:K653E	K	-	1	0	ABCG2	89232421	1.000000	0.71417	0.970000	0.41538	0.900000	0.52787	6.100000	0.71473	1.037000	0.40024	-0.326000	0.08463	AAA		0.338	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
ABCG2	9429	broad.mit.edu	37	4	89034593	89034593	+	Silent	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89034593A>T	ENST00000237612.3	-	9	1601	c.1056T>A	c.(1054-1056)ctT>ctA	p.L352L	ABCG2_ENST00000515655.1_Silent_p.L352L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	352					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L352L(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CACCCCCGGAAAGTTGATGTA	0.433																																					p.L352L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1056A	4						.						154.0	157.0	156.0					4																	89034593		2203	4300	6503	89253617	SO:0001819	synonymous_variant	9429	exon9			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1056T>A	4.37:g.89034593A>T		Somatic		Capture	Illumina HiSeq	Phase_I	89253617	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1																																																																																				0.433	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
ABCG2	9429	broad.mit.edu	37	4	89052305	89052305	+	Missense_Mutation	SNP	G	G	A	rs372192400		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89052305G>A	ENST00000237612.3	-	5	984	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	ABCG2_ENST00000515655.1_Missense_Mutation_p.R147W	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	147	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R147W(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTTGCAAGCCGAAGAGCTGCT	0.408																																					p.R147W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C439T	4						.	G	TRP/ARG	0,4406		0,0,2203	226.0	203.0	210.0		439	5.4	1.0	4		210	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG2	NM_004827.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	147/656	89052305	1,13005	2203	4300	6503	89271329	SO:0001583	missense	9429	exon5			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.439C>T	4.37:g.89052305G>A	ENSP00000237612:p.Arg147Trp	Somatic		Capture	Illumina HiSeq	Phase_I	89271329	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807379	0.90623	0.0	1.16E-4	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.41758	0.99;0.99	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71151	-0.4676	10	0.87932	D	0	-1.1612	13.9922	0.64374	0.0:0.0:0.8485:0.1515	.	147;147;147	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	W	147	ENSP00000426917:R147W;ENSP00000237612:R147W	ENSP00000237612:R147W	R	-	1	2	ABCG2	89271329	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.330000	0.59266	2.677000	0.91161	0.655000	0.94253	CGG		0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
PPM1K	152926	broad.mit.edu	37	4	89183743	89183743	+	3'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89183743G>A	ENST00000608933.1	-	0	1512				PPM1K_ENST00000508256.1_3'UTR|PPM1K_ENST00000295908.7_3'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K						protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTCCCAGCTGGTAATCAGGCC	0.438																																					.												.	.	0			.	4						.						75.0	71.0	73.0					4																	89183743		2203	4300	6503	89402767	SO:0001624	3_prime_UTR_variant	152926	.			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.*4C>T	4.37:g.89183743G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89402767	.	B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	3'UTR	SNP	ENST00000608933.1	37	CCDS3629.1																																																																																				0.438	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542	
HERC6	55008	broad.mit.edu	37	4	89349834	89349834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89349834C>T	ENST00000264346.7	+	16	2097	c.2038C>T	c.(2038-2040)Cgc>Tgc	p.R680C	HERC6_ENST00000380265.5_Missense_Mutation_p.R644C	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	680					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R680C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGACGAAGTCGCCTGGTTAA	0.373																																					p.V643V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1929T	4						.						38.0	36.0	37.0					4																	89349834		1848	4102	5950	89568857	SO:0001583	missense	55008	exon15			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2038C>T	4.37:g.89349834C>T	ENSP00000264346:p.Arg680Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89568857	NM_001165136	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008091	0.35415	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.67865	0.91;-0.29	4.25	4.25	0.50352	HECT (1);	0.098475	0.42294	D	0.000731	T	0.46756	0.1409	N	0.08118	0	0.80722	D	1	D;P	0.54964	0.969;0.876	B;B	0.43123	0.409;0.153	T	0.52734	-0.8536	10	0.42905	T	0.14	.	12.3559	0.55176	0.0:1.0:0.0:0.0	.	644;680	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	C	644;680	ENSP00000369617:R644C;ENSP00000264346:R680C	ENSP00000264346:R680C	R	+	1	0	HERC6	89568857	0.000000	0.05858	0.761000	0.31378	0.307000	0.27823	0.365000	0.20348	2.356000	0.79943	0.467000	0.42956	CGC		0.373	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HERC5	51191	broad.mit.edu	37	4	89397143	89397143	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89397143T>G	ENST00000264350.3	+	12	1697	c.1544T>G	c.(1543-1545)gTt>gGt	p.V515G	HERC5_ENST00000508159.1_Missense_Mutation_p.V153G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	515					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V515G(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTGCAAAGGTTGTTTGTAAA	0.403																																					p.V515G	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1544G	4						.						140.0	139.0	139.0					4																	89397143		2203	4300	6503	89616166	SO:0001583	missense	51191	exon12			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1544T>G	4.37:g.89397143T>G	ENSP00000264350:p.Val515Gly	Somatic		Capture	Illumina HiSeq	Phase_I	89616166	NM_016323	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	3.764	-0.049105	0.07407	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.38077	1.16;1.23	4.79	2.98	0.34508	.	0.336995	0.23431	N	0.048241	T	0.22666	0.0547	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.19128	-1.0315	10	0.72032	D	0.01	.	7.2599	0.26197	0.0:0.7961:0.0:0.2039	.	515	Q9UII4	HERC5_HUMAN	G	515;153	ENSP00000264350:V515G;ENSP00000424129:V153G	ENSP00000264350:V515G	V	+	2	0	HERC5	89616166	0.000000	0.05858	0.006000	0.13384	0.014000	0.08584	0.137000	0.15995	0.729000	0.32403	-0.285000	0.09966	GTT		0.403	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
HERC5	51191	broad.mit.edu	37	4	89415460	89415460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89415460G>T	ENST00000264350.3	+	18	2575	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	AC083829.1_ENST00000408152.2_RNA|HERC5_ENST00000508159.1_Nonsense_Mutation_p.E446*	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	808	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E808*(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGACTTGAAAGAACTCAGTCC	0.388																																					p.E808X	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2422T	4						.						74.0	76.0	75.0					4																	89415460		2203	4300	6503	89634483	SO:0001587	stop_gained	51191	exon18			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2422G>T	4.37:g.89415460G>T	ENSP00000264350:p.Glu808*	Somatic		Capture	Illumina HiSeq	Phase_I	89634483	NM_016323	B2RTQ1|Q69G20	Nonsense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	41	8.730913	0.98931	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	.	.	.	4.48	4.48	0.54585	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.0376	0.71761	0.0:0.0:1.0:0.0	.	.	.	.	X	808;446	.	ENSP00000264350:E808X	E	+	1	0	HERC5	89634483	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.298000	0.89944	2.479000	0.83701	0.491000	0.48974	GAA		0.388	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
FAM13A	10144	broad.mit.edu	37	4	89912172	89912172	+	Missense_Mutation	SNP	C	C	T	rs80274904	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:89912172C>T	ENST00000264344.5	-	4	764	c.557G>A	c.(556-558)cGc>cAc	p.R186H	FAM13A_ENST00000515600.1_Missense_Mutation_p.R186H|FAM13A_ENST00000509094.1_Missense_Mutation_p.R186H|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	186	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R186H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AACATTCATGCGATTCTGCAC	0.413													C|||	29	0.00579073	0.0219	0.0	5008	,	,		16727	0.0		0.0	False		,,,				2504	0.0				p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	4						.	C	HIS/ARG	50,4356	51.6+/-87.1	0,50,2153	155.0	136.0	142.0		557	4.5	1.0	4	dbSNP_132	142	0,8600		0,0,4300	yes	missense	FAM13A	NM_014883.2	29	0,50,6453	TT,TC,CC		0.0,1.1348,0.3844	probably-damaging	186/1024	89912172	50,12956	2203	4300	6503	90131195	SO:0001583	missense	10144	exon4			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.557G>A	4.37:g.89912172C>T	ENSP00000264344:p.Arg186His	Somatic		Capture	Illumina HiSeq	Phase_I	90131195	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	17.71	3.457433	0.63401	0.011348	0.0	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	T;T;T	0.20200	2.09;2.09;2.09	4.51	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.143553	0.45361	D	0.000374	T	0.38746	0.1052	M	0.83312	2.635	0.53688	D	0.999972	P;D	0.89917	0.769;1.0	B;D	0.69824	0.147;0.966	T	0.37865	-0.9687	9	.	.	.	.	12.9343	0.58305	0.0:0.9201:0.0:0.0799	.	186;186	Q6P521;O94988	.;FA13A_HUMAN	H	186	ENSP00000264344:R186H;ENSP00000426517:R186H;ENSP00000422345:R186H	.	R	-	2	0	FAM13A	90131195	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	3.808000	0.55598	2.791000	0.96007	0.655000	0.94253	CGC		0.413	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
GPRIN3	285513	broad.mit.edu	37	4	90169210	90169210	+	Silent	SNP	G	G	A	rs151282830	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90169210G>A	ENST00000609438.1	-	2	2570	c.2052C>T	c.(2050-2052)gtC>gtT	p.V684V	GPRIN3_ENST00000333209.4_Silent_p.V684V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	684								p.V684V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CATCCCACACGACGTCCCTGA	0.537																																					p.V684V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2052T	4						.	G		0,4406		0,0,2203	63.0	59.0	60.0		2052	-11.1	0.2	4	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPRIN3	NM_198281.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		684/777	90169210	1,13005	2203	4300	6503	90388233	SO:0001819	synonymous_variant	285513	exon2			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2052C>T	4.37:g.90169210G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90388233	NM_198281	Q8IVE4	Silent	SNP	ENST00000609438.1	37	CCDS34030.1																																																																																				0.537	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
SNCA	6622	broad.mit.edu	37	4	90756691	90756691	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90756691T>G	ENST00000394986.1	-	2	543				SNCA_ENST00000345009.4_Intron|SNCA_ENST00000505199.1_Intron|SNCA_ENST00000394991.3_Intron|SNCA_ENST00000506244.1_Intron|RP11-67M1.1_ENST00000501215.1_RNA|SNCA_ENST00000502987.1_Intron|SNCA_ENST00000394989.2_Intron|SNCA_ENST00000336904.3_Intron|RP11-67M1.1_ENST00000513653.1_RNA|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000508895.1_Intron			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.?(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		ATTTGGGGTTTACCTACCTAC	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						200.0	185.0	190.0					4																	90756691		2203	4300	6503	90975714	SO:0001627	intron_variant	6622	.			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.121+6A>C	4.37:g.90756691T>G		Somatic		Capture	Illumina HiSeq	Phase_I	90975714	.	A8K2A4|Q13701|Q4JHI3|Q6IAU6	Intron	SNP	ENST00000394986.1	37	CCDS3634.1																																																																																				0.443	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2		
MMRN1	22915	broad.mit.edu	37	4	90848968	90848968	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90848968T>G	ENST00000394980.1	+	6	1297	c.978T>G	c.(976-978)gaT>gaG	p.D326E	MMRN1_ENST00000394981.1_Missense_Mutation_p.D292E|MMRN1_ENST00000264790.2_Missense_Mutation_p.D326E|MMRN1_ENST00000508372.1_Missense_Mutation_p.D68E			Q13201	MMRN1_HUMAN	multimerin 1	326					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.D326E(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAATGACTGATCAGGTGAACT	0.353																																					p.D326E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T978G	4						.						101.0	109.0	107.0					4																	90848968		2203	4299	6502	91067991	SO:0001583	missense	22915	exon5			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.978T>G	4.37:g.90848968T>G	ENSP00000378431:p.Asp326Glu	Somatic		Capture	Illumina HiSeq	Phase_I	91067991	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.904010	0.00512	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.69561	0.37;0.37;-0.41;-0.01	5.0	-1.49	0.08718	.	0.417546	0.23951	N	0.042950	T	0.33760	0.0874	N	0.11255	0.115	0.22982	N	0.998479	B;B	0.12013	0.005;0.005	B;B	0.14578	0.011;0.003	T	0.31503	-0.9941	10	0.02654	T	1	.	5.564	0.17160	0.1762:0.1828:0.51:0.131	.	292;326	Q13201-2;Q13201	.;MMRN1_HUMAN	E	326;326;292;68	ENSP00000378431:D326E;ENSP00000264790:D326E;ENSP00000378432:D292E;ENSP00000426461:D68E	ENSP00000264790:D326E	D	+	3	2	MMRN1	91067991	0.974000	0.33945	0.338000	0.25549	0.033000	0.12548	-0.074000	0.11450	-0.484000	0.06763	-0.221000	0.12465	GAT		0.353	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90856341	90856341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90856341G>T	ENST00000394980.1	+	7	1829	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.E504*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.E246*			Q13201	MMRN1_HUMAN	multimerin 1	504					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.E504*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTGTATTATGAATCCCTCAA	0.388																																					p.E504X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1510T	4						.						91.0	90.0	90.0					4																	90856341		2203	4300	6503	91075364	SO:0001587	stop_gained	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1510G>T	4.37:g.90856341G>T	ENSP00000378431:p.Glu504*	Somatic		Capture	Illumina HiSeq	Phase_I	91075364	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410978	0.96072	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.12	4.25	0.50352	.	0.154316	0.43919	D	0.000514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.8173	0.78612	0.0:0.2647:0.7353:0.0	.	.	.	.	X	504;504;246	.	ENSP00000264790:E504X	E	+	1	0	MMRN1	91075364	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	2.705000	0.47127	1.422000	0.47177	0.591000	0.81541	GAA		0.388	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90857607	90857607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90857607G>A	ENST00000394980.1	+	7	3095	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.E926K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E668K			Q13201	MMRN1_HUMAN	multimerin 1	926					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.E926K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTCTCCACGAAGTTTTAAC	0.373																																					p.E926K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2776A	4						.						64.0	66.0	65.0					4																	90857607		2203	4299	6502	91076630	SO:0001583	missense	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2776G>A	4.37:g.90857607G>A	ENSP00000378431:p.Glu926Lys	Somatic		Capture	Illumina HiSeq	Phase_I	91076630	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113286	0.77210	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70516	-0.19;-0.19;-0.49	5.3	5.3	0.74995	.	0.066531	0.64402	D	0.000009	T	0.79534	0.4462	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.53809	0.735	T	0.80926	-0.1164	10	0.62326	D	0.03	.	19.8519	0.96744	0.0:0.0:1.0:0.0	.	926	Q13201	MMRN1_HUMAN	K	926;926;668	ENSP00000378431:E926K;ENSP00000264790:E926K;ENSP00000426461:E668K	ENSP00000264790:E926K	E	+	1	0	MMRN1	91076630	0.997000	0.39634	0.125000	0.21846	0.893000	0.52053	2.818000	0.48041	2.861000	0.98227	0.655000	0.94253	GAA		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90857868	90857868	+	Missense_Mutation	SNP	G	G	A	rs372333120		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:90857868G>A	ENST00000394980.1	+	7	3356	c.3037G>A	c.(3037-3039)Gca>Aca	p.A1013T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1013T|MMRN1_ENST00000508372.1_Missense_Mutation_p.A755T			Q13201	MMRN1_HUMAN	multimerin 1	1013					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.A1013S(1)|p.A1013T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAAATTAACGCACTTAAGAA	0.383																																					p.A1013T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3037A	4						.	G	THR/ALA	0,4368		0,0,2184	59.0	64.0	63.0		3037	1.0	0.0	4		63	1,8533		0,1,4266	no	missense	MMRN1	NM_007351.2	58	0,1,6450	AA,AG,GG		0.0117,0.0,0.0078	benign	1013/1229	90857868	1,12901	2184	4267	6451	91076891	SO:0001583	missense	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3037G>A	4.37:g.90857868G>A	ENSP00000378431:p.Ala1013Thr	Somatic		Capture	Illumina HiSeq	Phase_I	91076891	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.863083	0.00064	0.0	1.17E-4	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.65364	0.2;0.2;-0.15	4.96	1.02	0.19986	.	0.755923	0.12227	N	0.487838	T	0.18718	0.0449	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.02654	T	1	.	1.3357	0.02144	0.4593:0.1726:0.2438:0.1243	.	1013	Q13201	MMRN1_HUMAN	T	1013;1013;755	ENSP00000378431:A1013T;ENSP00000264790:A1013T;ENSP00000426461:A755T	ENSP00000264790:A1013T	A	+	1	0	MMRN1	91076891	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.632000	0.05489	0.089000	0.17243	-0.946000	0.02672	GCA		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
CCSER1	401145	broad.mit.edu	37	4	91389459	91389459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:91389459G>T	ENST00000509176.1	+	5	1966	c.1678G>T	c.(1678-1680)Gaa>Taa	p.E560*	CCSER1_ENST00000333691.8_Nonsense_Mutation_p.E560*|CCSER1_ENST00000432775.2_Nonsense_Mutation_p.E560*	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	560								p.E560*(1)|p.E562*(1)									ACCAATGATAGAAATGAAGAA	0.383																																					p.E560X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1678T	4						.						74.0	72.0	72.0					4																	91389459		1842	4081	5923	91608482	SO:0001587	stop_gained	401145	exon5				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1678G>T	4.37:g.91389459G>T	ENSP00000425040:p.Glu560*	Somatic		Capture	Illumina HiSeq	Phase_I	91608482	NM_001145065	Q4W5M0|Q86V57	Nonsense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	39	7.344857	0.98224	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	.	.	.	4.63	4.63	0.57726	.	0.741166	0.13069	N	0.416263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.8765	15.2528	0.73561	0.0:0.0:1.0:0.0	.	.	.	.	X	560	.	ENSP00000329482:E560X	E	+	1	0	FAM190A	91608482	0.999000	0.42202	0.376000	0.26042	0.939000	0.58152	5.103000	0.64578	2.514000	0.84764	0.467000	0.42956	GAA		0.383	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
CCSER1	401145	broad.mit.edu	37	4	91760062	91760062	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:91760062C>T	ENST00000509176.1	+	8	2382				CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1									p.E43K(1)									CATTACGATTCGCCTGCTTGC	0.423																																					p.E43K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	4						.						91.0	99.0	96.0					4																	91760062		1498	2693	4191	91979085	SO:0001627	intron_variant	7117	exon1				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2094+23066C>T	4.37:g.91760062C>T		Somatic		Capture	Illumina HiSeq	Phase_I	91979085	NM_183049	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.755543	0.31046	.	.	ENSG00000187653	ENST00000402089;ENST00000507623;ENST00000380638	.	.	.	2.42	0.536	0.17138	.	0.172687	0.26971	N	0.021572	T	0.30634	0.0771	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04294	-1.0962	8	0.21540	T	0.41	-19.189	4.588	0.12291	0.0:0.651:0.0:0.349	rs11544908	43	A8MW06	TMSL3_HUMAN	K	43;68;43	.	ENSP00000370012:E43K	E	-	1	0	TMSL3	91979085	0.924000	0.31332	0.978000	0.43139	0.886000	0.51366	1.171000	0.31896	-0.017000	0.14103	0.271000	0.19318	GAA		0.423	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
GRID2	2895	broad.mit.edu	37	4	94145832	94145832	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:94145832A>G	ENST00000282020.4	+	7	1289	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G	GRID2_ENST00000510992.1_Missense_Mutation_p.D249G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	344					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.D344G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AAGCTGGAGGACCGAAAGTGG	0.443																																					p.D344G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1031G	4						.						85.0	81.0	83.0					4																	94145832		2203	4300	6503	94364855	SO:0001583	missense	2895	exon7			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1031A>G	4.37:g.94145832A>G	ENSP00000282020:p.Asp344Gly	Somatic		Capture	Illumina HiSeq	Phase_I	94364855	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889846	0.72524	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.83591	-1.74;-1.74;-1.74	5.53	5.53	0.82687	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.43923	1.385	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.85130	0.992;0.996;0.997	D	0.88899	0.3351	10	0.62326	D	0.03	.	15.6884	0.77430	1.0:0.0:0.0:0.0	.	249;344;249	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	G	344;249;25	ENSP00000282020:D344G;ENSP00000421257:D249G;ENSP00000423331:D25G	ENSP00000282020:D344G	D	+	2	0	GRID2	94364855	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.339000	0.96797	2.100000	0.63781	0.533000	0.62120	GAC		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
ATOH1	474	broad.mit.edu	37	4	94751008	94751008	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:94751008T>G	ENST00000306011.3	+	1	967	c.931T>G	c.(931-933)Ttg>Gtg	p.L311V		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	311					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L311V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAAAAGAATTTGTCTCCTTC	0.587																																					p.L311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T931G	4						.						78.0	85.0	82.0					4																	94751008		2203	4300	6503	94970031	SO:0001583	missense	474	exon1			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.931T>G	4.37:g.94751008T>G	ENSP00000302216:p.Leu311Val	Somatic		Capture	Illumina HiSeq	Phase_I	94970031	NM_005172	Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	T	5.973	0.363552	0.11296	.	.	ENSG00000172238	ENST00000306011	D	0.97710	-4.5	4.25	-1.39	0.08997	.	0.653614	0.14265	N	0.330573	D	0.92870	0.7732	L	0.27053	0.805	0.24006	N	0.99619	P	0.47409	0.895	B	0.41236	0.351	D	0.87592	0.2491	10	0.16420	T	0.52	-9.5841	10.5014	0.44808	0.0:0.7816:0.0:0.2184	.	311	Q92858	ATOH1_HUMAN	V	311	ENSP00000302216:L311V	ENSP00000302216:L311V	L	+	1	2	ATOH1	94970031	0.994000	0.37717	0.653000	0.29593	0.236000	0.25371	1.122000	0.31295	-0.625000	0.05604	-0.427000	0.05922	TTG		0.587	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
SMARCAD1	56916	broad.mit.edu	37	4	95155158	95155158	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:95155158G>T	ENST00000354268.4	+	4	495	c.422G>T	c.(421-423)aGa>aTa	p.R141I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R141I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	141					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R141I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATGGCACGTAGAAATGATGAT	0.363																																					p.R141I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422T	4						.						69.0	69.0	69.0					4																	95155158		2203	4300	6503	95374181	SO:0001583	missense	56916	exon4			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.422G>T	4.37:g.95155158G>T	ENSP00000346217:p.Arg141Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95374181	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717358	0.30413	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15834	2.39;2.39;2.39	5.81	5.81	0.92471	.	0.764642	0.11065	N	0.603579	T	0.27278	0.0669	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.71870	0.944;0.975	T	0.02144	-1.1206	10	0.17832	T	0.49	-1.7301	15.5785	0.76414	0.0:0.0:1.0:0.0	.	141;141	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	I	141	ENSP00000351947:R141I;ENSP00000415576:R141I;ENSP00000346217:R141I	ENSP00000346217:R141I	R	+	2	0	SMARCAD1	95374181	1.000000	0.71417	0.997000	0.53966	0.306000	0.27790	1.569000	0.36428	2.736000	0.93811	0.655000	0.94253	AGA		0.363	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
SMARCAD1	56916	broad.mit.edu	37	4	95199848	95199848	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:95199848C>A	ENST00000354268.4	+	18	2333	c.2260C>A	c.(2260-2262)Ctt>Att	p.L754I	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.L324I|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L754I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	754					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L754I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTATTTGGGTCTTTTCAACAG	0.363																																					p.L754I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2260A	4						.						73.0	79.0	77.0					4																	95199848		2183	4296	6479	95418871	SO:0001583	missense	56916	exon18			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2260C>A	4.37:g.95199848C>A	ENSP00000346217:p.Leu754Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95418871	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997665	0.93227	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.44688	D	0.000424	T	0.74230	0.3689	N	0.12887	0.27	0.80722	D	1	P;P	0.52061	0.95;0.938	P;P	0.61874	0.895;0.832	T	0.70350	-0.4896	10	0.19147	T	0.46	-18.4496	20.3052	0.98627	0.0:1.0:0.0:0.0	.	754;754	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	I	754;754;754;324	ENSP00000351947:L754I;ENSP00000415576:L754I;ENSP00000346217:L754I;ENSP00000423286:L324I	ENSP00000346217:L754I	L	+	1	0	SMARCAD1	95418871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.070000	0.71220	2.814000	0.96858	0.650000	0.86243	CTT		0.363	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
BMPR1B	658	broad.mit.edu	37	4	96069996	96069996	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:96069996T>G	ENST00000515059.1	+	11	1457	c.1174T>G	c.(1174-1176)Ttc>Gtc	p.F392V	BMPR1B_ENST00000440890.2_Missense_Mutation_p.F422V|BMPR1B_ENST00000264568.4_Missense_Mutation_p.F392V|BMPR1B_ENST00000394931.1_Missense_Mutation_p.F392V	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.F392V(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAGAAATCACTTCCAGTCTTA	0.443																																					p.F392V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1174G	4						.						200.0	174.0	183.0					4																	96069996		2203	4300	6503	96289019	SO:0001583	missense	658	exon11			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1174T>G	4.37:g.96069996T>G	ENSP00000426617:p.Phe392Val	Somatic		Capture	Illumina HiSeq	Phase_I	96289019	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	T	32	5.147921	0.94603	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.79926	2.475	0.80722	D	1	D	0.57571	0.98	D	0.66716	0.946	T	0.82520	-0.0416	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	392	O00238	BMR1B_HUMAN	V	392;392;392;422;392;392	ENSP00000426617:F392V;ENSP00000425444:F392V;ENSP00000421671:F392V;ENSP00000401907:F422V;ENSP00000264568:F392V;ENSP00000378389:F392V	ENSP00000264568:F392V	F	+	1	0	BMPR1B	96289019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TTC		0.443	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
UNC5C	8633	broad.mit.edu	37	4	96123988	96123988	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:96123988G>A	ENST00000453304.1	-	12	2378	c.2030C>T	c.(2029-2031)gCg>gTg	p.A677V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	677					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.A677V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTTCGCAGCCGCTTTGGTGGT	0.597																																					p.A677V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2030T	4						.						121.0	116.0	118.0					4																	96123988		2203	4300	6503	96343011	SO:0001583	missense	8633	exon12			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2030C>T	4.37:g.96123988G>A	ENSP00000406022:p.Ala677Val	Somatic		Capture	Illumina HiSeq	Phase_I	96343011	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882934	0.72410	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.56776	0.74;0.44	5.47	4.62	0.57501	.	0.167687	0.52532	D	0.000073	T	0.43299	0.1241	L	0.45051	1.395	0.80722	D	1	P;P	0.46020	0.482;0.871	B;B	0.35240	0.103;0.198	T	0.43393	-0.9394	10	0.40728	T	0.16	.	16.5715	0.84613	0.0:0.1306:0.8694:0.0	.	677;677	A8K385;O95185	.;UNC5C_HUMAN	V	677;636;696	ENSP00000406022:A677V;ENSP00000426924:A696V	ENSP00000328673:A636V	A	-	2	0	UNC5C	96343011	1.000000	0.71417	0.883000	0.34634	0.937000	0.57800	7.938000	0.87678	1.428000	0.47296	0.561000	0.74099	GCG		0.597	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
UNC5C	8633	broad.mit.edu	37	4	96199414	96199414	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:96199414G>T	ENST00000453304.1	-	4	938	c.590C>A	c.(589-591)gCt>gAt	p.A197D	UNC5C_ENST00000506749.1_Missense_Mutation_p.A197D|UNC5C_ENST00000504962.1_Missense_Mutation_p.A197D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	197	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.A197D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTCACCTCAGCCACTGGGAT	0.453																																					p.A197D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C590A	4						.						137.0	123.0	128.0					4																	96199414		2203	4300	6503	96418437	SO:0001583	missense	8633	exon4			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.590C>A	4.37:g.96199414G>T	ENSP00000406022:p.Ala197Asp	Somatic		Capture	Illumina HiSeq	Phase_I	96418437	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654461	0.67472	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.90650	3.135	0.80722	D	1	B;B;B	0.20459	0.045;0.012;0.005	B;B;B	0.29598	0.104;0.016;0.011	T	0.77117	-0.2706	10	0.87932	D	0	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	197;197;197	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	D	197;156;197;197;197	ENSP00000406022:A197D;ENSP00000426924:A197D;ENSP00000426153:A197D;ENSP00000425117:A197D	ENSP00000328673:A156D	A	-	2	0	UNC5C	96418437	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.813000	0.99286	2.654000	0.90174	0.563000	0.77884	GCT		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
PDHA2	5161	broad.mit.edu	37	4	96761892	96761892	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:96761892G>A	ENST00000295266.4	+	1	654	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	197					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.A197A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGCGCTGCGAATCAGGGGC	0.468																																					p.A197A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G591A	4						.						60.0	65.0	63.0					4																	96761892		2203	4300	6503	96980915	SO:0001819	synonymous_variant	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.591G>A	4.37:g.96761892G>A		Somatic		Capture	Illumina HiSeq	Phase_I	96980915	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																				0.468	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
STPG2	285555	broad.mit.edu	37	4	99064247	99064247	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:99064247C>T	ENST00000295268.3	-	1	144	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	19								p.A19T(1)									CCCACATGGGCCTCAGTGCTG	0.592											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A19T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	4						.						59.0	44.0	49.0					4																	99064247		2203	4300	6503	99283270	SO:0001583	missense	285555	exon1			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.55G>A	4.37:g.99064247C>T	ENSP00000295268:p.Ala19Thr	Somatic	1340	Capture	Illumina HiSeq	Phase_I	99283270	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406212	0.42715	.	.	ENSG00000163116	ENST00000295268	T	0.11712	2.75	5.53	4.69	0.59074	.	1.450380	0.04187	N	0.327505	T	0.09642	0.0237	N	0.22421	0.69	0.22292	N	0.999229	B	0.29432	0.244	B	0.26770	0.073	T	0.35773	-0.9775	10	0.22706	T	0.39	0.5004	9.9093	0.41394	0.0:0.9073:0.0:0.0927	.	19	Q8N412	CD037_HUMAN	T	19	ENSP00000295268:A19T	ENSP00000295268:A19T	A	-	1	0	C4orf37	99283270	0.557000	0.26546	0.850000	0.33497	0.998000	0.95712	1.400000	0.34577	1.340000	0.45581	0.650000	0.86243	GCC		0.592	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	
RAP1GDS1	5910	broad.mit.edu	37	4	99355178	99355178	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:99355178T>G	ENST00000408927.3	+	13	1645	c.1532T>G	c.(1531-1533)cTt>cGt	p.L511R	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L463R|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L512R|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L420R|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L462R|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L511R	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	511					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.L511R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATGAAGCTCTTGTTGCTTTG	0.358			T	NUP98	T-ALL																																p.L511R			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1532G	4						.						121.0	115.0	117.0					4																	99355178		1903	4122	6025	99574201	SO:0001583	missense	5910	exon13				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1532T>G	4.37:g.99355178T>G	ENSP00000386153:p.Leu511Arg	Somatic		Capture	Illumina HiSeq	Phase_I	99574201	NM_001100427	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335181	0.81801	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.92	5.92	0.95590	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.994;0.998;0.998	T	0.81516	-0.0897	10	0.45353	T	0.12	-6.3032	16.3533	0.83225	0.0:0.0:0.0:1.0	.	420;462;463;511;512;511	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	R	463;420;511;511;462;512	ENSP00000369503:L463R;ENSP00000264572:L420R;ENSP00000386153:L511R;ENSP00000407157:L511R;ENSP00000386223:L462R;ENSP00000340454:L512R	ENSP00000264572:L420R	L	+	2	0	RAP1GDS1	99574201	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.178000	0.77657	2.257000	0.74773	0.454000	0.30748	CTT		0.358	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
TSPAN5	10098	broad.mit.edu	37	4	99403203	99403203	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:99403203G>T	ENST00000305798.3	-	4	805	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Silent_p.R64R	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	135					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.R135R(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		ATGTCATCCCGATATGCTCTG	0.393																																					p.R135R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C403A	4						.						153.0	155.0	154.0					4																	99403203		2203	4300	6503	99622226	SO:0001819	synonymous_variant	10098	exon4				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.403C>A	4.37:g.99403203G>T		Somatic		Capture	Illumina HiSeq	Phase_I	99622226	NM_005723	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Silent	SNP	ENST00000305798.3	37	CCDS3646.1																																																																																				0.393	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723	
TSPAN5	10098	broad.mit.edu	37	4	99579358	99579358	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:99579358T>G	ENST00000305798.3	-	1	422	c.20A>C	c.(19-21)aAg>aCg	p.K7T	RP11-1299A16.3_ENST00000569927.1_RNA|TSPAN5_ENST00000505184.1_5'Flank	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	7					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.K7T(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TTCAGGACCCTTGTAGTGCTT	0.537																																					p.K7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A20C	4						.						142.0	136.0	138.0					4																	99579358		2203	4300	6503	99798381	SO:0001583	missense	10098	exon1				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.20A>C	4.37:g.99579358T>G	ENSP00000307701:p.Lys7Thr	Somatic		Capture	Illumina HiSeq	Phase_I	99798381	NM_005723	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608485	0.46527	.	.	ENSG00000168785	ENST00000305798	T	0.27890	1.64	4.19	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.35414	1.06	0.80722	D	1	B	0.22909	0.077	B	0.20184	0.028	T	0.04307	-1.0961	10	0.34782	T	0.22	.	9.6802	0.40065	0.0:0.0838:0.0:0.9162	.	7	P62079	TSN5_HUMAN	T	7	ENSP00000307701:K7T	ENSP00000307701:K7T	K	-	2	0	TSPAN5	99798381	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.571000	0.74000	0.645000	0.30675	0.254000	0.18369	AAG		0.537	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723	
PPP3CA	5530	broad.mit.edu	37	4	102001680	102001680	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:102001680A>T	ENST00000394854.3	-	8	1639				PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000394853.4_Intron|PPP3CA_ENST00000512215.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme						calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGTATTTAAAAACACTTACCT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						59.0	59.0	59.0					4																	102001680		2202	4295	6497	102220703	SO:0001627	intron_variant	5530	.				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.955+8T>A	4.37:g.102001680A>T		Somatic		Capture	Illumina HiSeq	Phase_I	102220703	.	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Intron	SNP	ENST00000394854.3	37	CCDS34037.1																																																																																				0.303	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	
UBE2D3	7323	broad.mit.edu	37	4	103730817	103730817	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:103730817C>A	ENST00000453744.2	-	4	634				UBE2D3_ENST00000394801.4_Intron|UBE2D3_ENST00000350435.7_Intron|UBE2D3_ENST00000394803.5_Intron|UBE2D3_ENST00000513098.1_Intron|UBE2D3_ENST00000394804.2_Intron|UBE2D3_ENST00000504211.1_Intron|UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000338145.3_Intron|UBE2D3_ENST00000502404.1_Intron|UBE2D3_ENST00000507845.1_Intron|UBE2D3_ENST00000343106.5_Intron|UBE2D3_ENST00000321805.7_Intron|UBE2D3_ENST00000505207.1_Intron|UBE2D3_ENST00000349311.8_Intron	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TTTAAAAATTCTTAATACTTA	0.254																																					.												.	.	0			.	4						.						29.0	32.0	31.0					4																	103730817		2187	4294	6481	103949928	SO:0001627	intron_variant	7323	.			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.120+11G>T	4.37:g.103730817C>A		Somatic		Capture	Illumina HiSeq	Phase_I	103949928	.	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Intron	SNP	ENST00000453744.2	37	CCDS3660.1																																																																																				0.254	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893	
CENPE	1062	broad.mit.edu	37	4	104098215	104098215	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:104098215G>T	ENST00000265148.3	-	14	1332				CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAAAGAAGAAGAAATCAAAAT	0.284																																					.												.	.	0			.	4						.						54.0	52.0	53.0					4																	104098215		2199	4276	6475	104317664	SO:0001627	intron_variant	1062	.			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1243-12C>A	4.37:g.104098215G>T		Somatic		Capture	Illumina HiSeq	Phase_I	104317664	.	A6NKY9|A8K2U7|Q4LE75	Intron	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CASP6	839	broad.mit.edu	37	4	110615670	110615670	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:110615670C>A	ENST00000265164.2	-	5	561				AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000510324.1_Intron|CASP6_ENST00000352981.3_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TGATAATGTACTCAGTCTTAC	0.368																																					.												.	.	0			.	4						.						81.0	75.0	77.0					4																	110615670		2203	4300	6503	110835119	SO:0001627	intron_variant	839	.			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.483+10G>T	4.37:g.110615670C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110835119	.	Q9BQE7	Intron	SNP	ENST00000265164.2	37	CCDS3684.1																																																																																				0.368	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226	
PITX2	5308	broad.mit.edu	37	4	111554104	111554104	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:111554104C>A	ENST00000354925.2	-	4	1752				PITX2_ENST00000394598.2_Intron|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.?(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGGTTCTTACCTAATT	0.637																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						128.0	131.0	130.0					4																	111554104		2203	4300	6503	111773553	SO:0001627	intron_variant	5308	.			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.46+4G>T	4.37:g.111554104C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111773553	.	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Intron	SNP	ENST00000354925.2	37	CCDS3692.1																																																																																				0.637	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
ANK2	287	broad.mit.edu	37	4	114232400	114232400	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:114232400A>G	ENST00000357077.4	+	24	2601				ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCCTCTGATTGTTTCAAG	0.408																																					.												.	.	0			.	4						.						125.0	113.0	117.0					4																	114232400		2203	4300	6503	114451849	SO:0001627	intron_variant	287	.			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2549-11A>G	4.37:g.114232400A>G		Somatic		Capture	Illumina HiSeq	Phase_I	114451849	.	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Intron	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
NDST4	64579	broad.mit.edu	37	4	115750937	115750937	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:115750937A>C	ENST00000264363.2	-	13	3178					NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4						heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGATTAAAAAATTATTACCT	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						65.0	66.0	66.0					4																	115750937		2202	4298	6500	115970386	SO:0001627	intron_variant	64579	.			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2499+8T>G	4.37:g.115750937A>C		Somatic		Capture	Illumina HiSeq	Phase_I	115970386	.	Q2KHM8	Intron	SNP	ENST00000264363.2	37	CCDS3706.1																																																																																				0.333	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
NDST3	9348	broad.mit.edu	37	4	119176736	119176736	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:119176736C>A	ENST00000296499.5	+	14	2905					NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3						heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTCTCTCCTCCTCTCCACTTA	0.393																																					.												.	.	0			.	4						.						66.0	60.0	62.0					4																	119176736		2203	4300	6503	119396184	SO:0001627	intron_variant	9348	.			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2503-12C>A	4.37:g.119176736C>A		Somatic		Capture	Illumina HiSeq	Phase_I	119396184	.	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Intron	SNP	ENST00000296499.5	37	CCDS3708.1																																																																																				0.393	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
MAD2L1	4085	broad.mit.edu	37	4	120987809	120987809	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:120987809G>T	ENST00000296509.6	-	1	413				RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GCCTGCGCGAGAACTTACAGA	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						41.0	42.0	41.0					4																	120987809		2203	4300	6503	121207257	SO:0001627	intron_variant	4085	.			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.73+7C>A	4.37:g.120987809G>T		Somatic		Capture	Illumina HiSeq	Phase_I	121207257	.	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Intron	SNP	ENST00000296509.6	37	CCDS3715.1																																																																																				0.607	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2		
BBS7	55212	broad.mit.edu	37	4	122782652	122782652	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:122782652G>T	ENST00000264499.4	-	4	525				BBS7_ENST00000506636.1_Intron	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7						brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGAACAAAAGACATACATAG	0.313									Bardet-Biedl syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						58.0	60.0	59.0					4																	122782652		2203	4300	6503	123002102	SO:0001627	intron_variant	55212	.	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.341+6C>A	4.37:g.122782652G>T		Somatic		Capture	Illumina HiSeq	Phase_I	123002102	.	Q4W5P8|Q8N581|Q9NVI4	Intron	SNP	ENST00000264499.4	37	CCDS3724.1																																																																																				0.313	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
LARP1B	55132	broad.mit.edu	37	4	129127572	129127572	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:129127572T>C	ENST00000326639.6	+	18	2520				LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000506199.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CCTTTTATTTTCTCTTTATAG	0.274																																					.												.	.	0			.	4						.						30.0	34.0	33.0					4																	129127572		2178	4287	6465	129347022	SO:0001627	intron_variant	55132	.				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2310-11T>C	4.37:g.129127572T>C		Somatic		Capture	Illumina HiSeq	Phase_I	129347022	.	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Intron	SNP	ENST00000326639.6	37	CCDS3738.1																																																																																				0.274	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
GYPB	2994	broad.mit.edu	37	4	145039861	145039861	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:145039861A>G	ENST00000283126.7	-	1	93				GYPA_ENST00000504786.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000535709.1_Intron|GYPA_ENST00000360771.4_Intron|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000512064.1_Intron			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TCAAATATTAACATACCTGGT	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						102.0	102.0	102.0					4																	145039861		2203	4299	6502	145259311	SO:0001627	intron_variant	2993	.				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21890T>C	4.37:g.145039861A>G		Somatic		Capture	Illumina HiSeq	Phase_I	145259311	.	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Intron	SNP	ENST00000283126.7	37																																																																																					0.318	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100	
OTUD4	54726	broad.mit.edu	37	4	146077076	146077076	+	Intron	SNP	T	T	A	rs144099199|rs546012681	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:146077076T>A	ENST00000447906.2	-	8	878				OTUD4_ENST00000454497.2_Intron|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4						protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAACCACTTTTAAAAAAAATA	0.318																																					.												.	.	0			.	4						.						47.0	50.0	49.0					4																	146077076		2203	4299	6502	146296526	SO:0001627	intron_variant	54726	.				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.690+11A>T	4.37:g.146077076T>A		Somatic		Capture	Illumina HiSeq	Phase_I	146296526	.	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Intron	SNP	ENST00000447906.2	37																																																																																					0.318	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
FGG	2266	broad.mit.edu	37	4	155533365	155533365	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:155533365A>T	ENST00000336098.3	-	3	162				FGG_ENST00000407946.1_Intron|FGG_ENST00000405164.1_Intron|FGG_ENST00000404648.3_Intron	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGAAAATATAACAGTGATTAA	0.328																																					.												.	.	0			.	4						.						51.0	47.0	48.0					4																	155533365		2202	4300	6502	155752815	SO:0001627	intron_variant	2266	.				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.124-12T>A	4.37:g.155533365A>T		Somatic		Capture	Illumina HiSeq	Phase_I	155752815	.	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Intron	SNP	ENST00000336098.3	37	CCDS3788.1																																																																																				0.328	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
GUCY1A3	2982	broad.mit.edu	37	4	156629453	156629453	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:156629453G>T	ENST00000296518.7	+	5	585				GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000511507.1_Intron|GUCY1A3_ENST00000506455.1_Intron|GUCY1A3_ENST00000455639.2_Intron|GUCY1A3_ENST00000513574.1_Intron|GUCY1A3_ENST00000511108.1_Intron|GUCY1A3_ENST00000515602.1_Intron			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.?(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAGGTAATAGAATTGTTTAT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						41.0	48.0	45.0					4																	156629453		2202	4295	6497	156848903	SO:0001627	intron_variant	2982	.				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.376+7G>T	4.37:g.156629453G>T		Somatic		Capture	Illumina HiSeq	Phase_I	156848903	.	D3DP19|D6RDW3|O43843|Q8TAH3	Intron	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.303	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TMEM144	55314	broad.mit.edu	37	4	159156665	159156665	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:159156665G>T	ENST00000296529.6	+	8	1083				TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144							integral component of membrane (GO:0016021)		p.?(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGTGTAAGGAGAGGTTACTTC	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						112.0	98.0	103.0					4																	159156665		2203	4300	6503	159376115	SO:0001627	intron_variant	55314	.			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.563+8G>T	4.37:g.159156665G>T		Somatic		Capture	Illumina HiSeq	Phase_I	159376115	.	D3DP24|Q49A05|Q9NUT3	Intron	SNP	ENST00000296529.6	37	CCDS3799.1																																																																																				0.388	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
AADAT	51166	broad.mit.edu	37	4	170985982	170985982	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:170985982A>C	ENST00000337664.4	-	11	1304				AADAT_ENST00000515480.1_Intron|AADAT_ENST00000353187.2_Intron|AADAT_ENST00000509167.1_Intron	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase						2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CAAACCTACAAACAAAAGAAG	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						63.0	62.0	63.0					4																	170985982		2203	4300	6503	171222557	SO:0001627	intron_variant	51166	.			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.1028-6T>G	4.37:g.170985982A>C		Somatic		Capture	Illumina HiSeq	Phase_I	171222557	.	B3KP84|Q9UL02	Intron	SNP	ENST00000337664.4	37	CCDS3814.1																																																																																				0.333	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228	
FBXO8	26269	broad.mit.edu	37	4	175162243	175162243	+	Intron	SNP	G	G	A	rs373783765		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:175162243G>A	ENST00000393674.2	-	4	1438				FBXO8_ENST00000503293.1_Intron	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.?(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GTTAATTTTCGTTTTTACCTT	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		18573	0.0		0.001	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.	G		0,4404		0,0,2202	85.0	80.0	81.0			-10.2	0.0	4		81	9,8585	5.7+/-21.5	0,9,4288	no	intron	FBXO8	NM_012180.2		0,9,6490	AA,AG,GG		0.1047,0.0,0.0692			175162243	9,12989	2202	4297	6499	175398818	SO:0001627	intron_variant	26269	.			AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.575+7C>T	4.37:g.175162243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	175398818	.	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Intron	SNP	ENST00000393674.2	37	CCDS3820.1																																																																																				0.289	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	
GPM6A	2823	broad.mit.edu	37	4	176556220	176556220	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:176556220G>T	ENST00000280187.7	-	8	730				GPM6A_ENST00000515090.1_Intron|GPM6A_ENST00000506219.1_Intron|GPM6A_ENST00000506894.1_Intron|GPM6A_ENST00000393658.2_Intron	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A						neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TAATCAAAGAGAAAAATAATT	0.388																																					.												.	.	0			.	4						.						39.0	40.0	40.0					4																	176556220		2203	4300	6503	176793214	SO:0001627	intron_variant	2823	.				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.685-12C>A	4.37:g.176556220G>T		Somatic		Capture	Illumina HiSeq	Phase_I	176793214	.	B7Z642|E9PHI5|Q92602	Intron	SNP	ENST00000280187.7	37	CCDS3824.1																																																																																				0.388	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
TLR3	7098	broad.mit.edu	37	4	187005334	187005334	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187005334A>C	ENST00000296795.3	+	4	2590				TLR3_ENST00000504367.1_Intron	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAGGTAGGTAAACATTGTGAA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						33.0	36.0	35.0					4																	187005334		2159	4276	6435	187242328	SO:0001627	intron_variant	7098	.			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2486+8A>C	4.37:g.187005334A>C		Somatic		Capture	Illumina HiSeq	Phase_I	187242328	.	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Intron	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																				0.333	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
FAM149A	25854	broad.mit.edu	37	4	187075804	187075804	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:187075804C>A	ENST00000356371.5	+	6	1256				FAM149A_ENST00000503432.1_Intron|FAM149A_ENST00000514829.1_Intron|FAM149A_ENST00000389354.5_Intron|FAM149A_ENST00000227065.4_Intron|FAM149A_ENST00000502970.1_Intron|FAM149A_ENST00000514153.1_Intron			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TAAATAGAATCTTATTTGACA	0.333																																					.												.	.	0			.	4						.						67.0	68.0	68.0					4																	187075804		2203	4300	6503	187312798	SO:0001627	intron_variant	25854	.			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1256+12C>A	4.37:g.187075804C>A		Somatic		Capture	Illumina HiSeq	Phase_I	187312798	.	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Intron	SNP	ENST00000356371.5	37																																																																																					0.333	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
TUBB7P	56604	broad.mit.edu	37	4	190904376	190904376	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr4:190904376C>A								FRG1 (20017 upstream) : RNA5SP174 (31916 downstream)																							GCTTCGTTATCTATGCAGAAG	0.537																																					p.R202I												.	.	0			c.G605T	4						.						15.0	24.0	21.0					4																	190904376		1908	4054	5962	191141370	SO:0001628	intergenic_variant	56604	exon4																															4.37:g.190904376C>A		Somatic		Capture	Illumina HiSeq	Phase_I	191141370	NM_020040		Missense_Mutation	SNP		37																																																																																				0	0.537								
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401																																					p.I1980fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.5938_5939insT	5						.																																			90015433	SO:0001589	frameshift_variant	84059	exon28			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5944dupT	5.37:g.89979682_89979682dupT	ENSP00000384582:p.Ile1980fs	Somatic		Capture	Illumina HiSeq	Phase_I	90015432	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	CCDS47246.1																																																																																				0.401	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GOLPH3	64083	broad.mit.edu	37	5	32126720	32126720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32126720delT	ENST00000265070.6	-	4	810	c.495delA	c.(493-495)aaafs	p.K165fs	GOLPH3_ENST00000512668.1_5'UTR	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	165					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K165fs*6(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATAATGCAATTTTAATGGAT	0.318																																					p.K165fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.495delA	5						.						86.0	88.0	87.0					5																	32126720		2203	4300	6503	32162477	SO:0001589	frameshift_variant	64083	exon4			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.495delA	5.37:g.32126720delT	ENSP00000265070:p.Lys165fs	Somatic		Capture	Illumina HiSeq	Phase_I	32162477	NM_022130	Q9UIW5	Frame_Shift_Del	DEL	ENST00000265070.6	37	CCDS3896.1																																																																																				0.318	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130	
ST8SIA4	7903	broad.mit.edu	37	5	100147758	100147758	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:100147758G>T	ENST00000231461.5	-	5	1183	c.873C>A	c.(871-873)ttC>ttA	p.F291L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	291					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F291L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTTCATCACAGAATCTTGTGG	0.363																																					p.F291L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C873A	5						.						61.0	61.0	61.0					5																	100147758		2203	4299	6502	100175657	SO:0001583	missense	7903	exon5			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.873C>A	5.37:g.100147758G>T	ENSP00000231461:p.Phe291Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100175657	NM_005668	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765272	0.49574	.	.	ENSG00000113532	ENST00000231461	T	0.25250	1.81	5.77	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	N	0.16233	0.39	0.80722	D	1	D	0.54047	0.964	P	0.56216	0.794	T	0.04307	-1.0961	10	0.02654	T	1	-5.5365	11.5667	0.50809	0.349:0.0:0.651:0.0	.	291	Q92187	SIA8D_HUMAN	L	291	ENSP00000231461:F291L	ENSP00000231461:F291L	F	-	3	2	ST8SIA4	100175657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.563000	0.45922	0.378000	0.24764	-0.136000	0.14681	TTC		0.363	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
ST8SIA4	7903	broad.mit.edu	37	5	100191996	100191996	+	Missense_Mutation	SNP	C	C	T	rs372014886		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:100191996C>T	ENST00000231461.5	-	4	918	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	203					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R203Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ACTCTCATTTCGAAAGCCTCC	0.418																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	5						.	C	GLN/ARG	0,4406		0,0,2203	152.0	139.0	144.0		608	5.3	1.0	5		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST8SIA4	NM_005668.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	203/360	100191996	1,13005	2203	4300	6503	100219895	SO:0001583	missense	7903	exon4			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.608G>A	5.37:g.100191996C>T	ENSP00000231461:p.Arg203Gln	Somatic		Capture	Illumina HiSeq	Phase_I	100219895	NM_005668	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565257	0.27915	0.0	1.16E-4	ENSG00000113532	ENST00000231461	T	0.18657	2.2	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.13927	0.0337	N	0.16368	0.405	0.80722	D	1	P	0.37824	0.609	B	0.35688	0.208	T	0.10019	-1.0648	10	0.12430	T	0.62	-19.3482	18.1509	0.89674	0.0:1.0:0.0:0.0	.	203	Q92187	SIA8D_HUMAN	Q	203	ENSP00000231461:R203Q	ENSP00000231461:R203Q	R	-	2	0	ST8SIA4	100219895	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.051000	0.41307	2.751000	0.94390	0.591000	0.81541	CGA		0.418	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
ST8SIA4	7903	broad.mit.edu	37	5	100192065	100192065	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:100192065T>G	ENST00000231461.5	-	4	849	c.539A>C	c.(538-540)gAt>gCt	p.D180A		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	180					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.D180A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AGTTCCCACATCTGCAGCAAA	0.358																																					p.D180A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539C	5						.						74.0	71.0	72.0					5																	100192065		2203	4300	6503	100219964	SO:0001583	missense	7903	exon4			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.539A>C	5.37:g.100192065T>G	ENSP00000231461:p.Asp180Ala	Somatic		Capture	Illumina HiSeq	Phase_I	100219964	NM_005668	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211942	0.79240	.	.	ENSG00000113532	ENST00000231461	T	0.57107	0.42	5.32	5.32	0.75619	.	0.060281	0.64402	D	0.000005	D	0.82646	0.5082	H	0.98314	4.2	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.89346	0.3657	10	0.87932	D	0	-1.1069	14.6008	0.68441	0.0:0.0:0.0:1.0	.	180	Q92187	SIA8D_HUMAN	A	180	ENSP00000231461:D180A	ENSP00000231461:D180A	D	-	2	0	ST8SIA4	100219964	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.836000	0.86788	2.220000	0.72140	0.482000	0.46254	GAT		0.358	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
ST8SIA4	7903	broad.mit.edu	37	5	100231359	100231359	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:100231359T>G	ENST00000231461.5	-	2	554	c.244A>C	c.(244-246)Agg>Cgg	p.R82R	ST8SIA4_ENST00000451528.2_Splice_Site_p.R82R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	82					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R82R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GAAACTCACCTTATCTCTAGG	0.363																																					p.R82R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A244C	5						.						108.0	103.0	105.0					5																	100231359		2203	4299	6502	100259258	SO:0001630	splice_region_variant	7903	exon2			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.245+1A>C	5.37:g.100231359T>G		Somatic		Capture	Illumina HiSeq	Phase_I	100259258	NM_005668	A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	ENST00000231461.5	37	CCDS4091.1																																																																																				0.363	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	Silent
SLCO4C1	353189	broad.mit.edu	37	5	101575005	101575005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:101575005G>T	ENST00000310954.6	-	12	2250	c.1964C>A	c.(1963-1965)gCt>gAt	p.A655D		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.A655D(1)|p.A655V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATCCAGCAAGCTCCTTTAAT	0.328																																					p.A655D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1964A	5						.						107.0	104.0	105.0					5																	101575005		2202	4300	6502	101602904	SO:0001583	missense	353189	exon12			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1964C>A	5.37:g.101575005G>T	ENSP00000309741:p.Ala655Asp	Somatic		Capture	Illumina HiSeq	Phase_I	101602904	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365007	0.82463	.	.	ENSG00000173930	ENST00000310954	T	0.46063	0.88	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	T	0.68787	0.3039	M	0.90705	3.14	0.43522	D	0.995799	D	0.54207	0.965	P	0.62885	0.908	T	0.69734	-0.5065	10	0.27082	T	0.32	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	655	Q6ZQN7	SO4C1_HUMAN	D	655	ENSP00000309741:A655D	ENSP00000309741:A655D	A	-	2	0	SLCO4C1	101602904	1.000000	0.71417	0.907000	0.35723	0.934000	0.57294	4.906000	0.63293	2.558000	0.86282	0.650000	0.86243	GCT		0.328	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
SLCO6A1	133482	broad.mit.edu	37	5	101755638	101755638	+	Missense_Mutation	SNP	A	A	G	rs549494351		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:101755638A>G	ENST00000506729.1	-	8	1535	c.1364T>C	c.(1363-1365)aTg>aCg	p.M455T	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.M393T|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.M455T|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	455						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.M455T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATAAATCTCATAAGGGCTTT	0.368																																					p.M455T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1364C	5						.						82.0	86.0	85.0					5																	101755638		2203	4300	6503	101783537	SO:0001583	missense	133482	exon8			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1364T>C	5.37:g.101755638A>G	ENSP00000421339:p.Met455Thr	Somatic		Capture	Illumina HiSeq	Phase_I	101783537	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917775	0.33815	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81163	-1.46;-1.46;-1.46	4.81	4.81	0.61882	Major facilitator superfamily domain, general substrate transporter (1);	0.137086	0.49916	D	0.000125	D	0.88633	0.6489	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.65773	0.929;0.938	D	0.89374	0.3677	10	0.52906	T	0.07	.	12.2462	0.54572	1.0:0.0:0.0:0.0	.	393;455	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	T	455;455;393	ENSP00000421339:M455T;ENSP00000369135:M455T;ENSP00000373671:M393T	ENSP00000369135:M455T	M	-	2	0	SLCO6A1	101783537	1.000000	0.71417	0.774000	0.31636	0.053000	0.15095	5.464000	0.66719	2.144000	0.66660	0.533000	0.62120	ATG		0.368	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
SLCO6A1	133482	broad.mit.edu	37	5	101834355	101834355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:101834355C>T	ENST00000506729.1	-	1	365	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R65Q|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R65Q|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R65Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTCCTTTTTCGGAAACCGCC	0.542																																					p.R65Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G194A	5						.						143.0	156.0	152.0					5																	101834355		2203	4300	6503	101862254	SO:0001583	missense	133482	exon1			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.194G>A	5.37:g.101834355C>T	ENSP00000421339:p.Arg65Gln	Somatic		Capture	Illumina HiSeq	Phase_I	101862254	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	3.693	-0.063083	0.07273	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.43688	0.97;0.97;1.0;0.94;0.94	3.11	-6.21	0.02065	.	.	.	.	.	T	0.13286	0.0322	N	0.11560	0.145	0.09310	N	1	B;B;B	0.26363	0.128;0.147;0.079	B;B;B	0.14578	0.011;0.009;0.005	T	0.21999	-1.0229	9	0.07030	T	0.85	.	1.9164	0.03298	0.1264:0.1632:0.2575:0.4529	.	65;65;65	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Q	65	ENSP00000421339:R65Q;ENSP00000369135:R65Q;ENSP00000373671:R65Q;ENSP00000421990:R65Q;ENSP00000369138:R65Q	ENSP00000369135:R65Q	R	-	2	0	SLCO6A1	101862254	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.059000	0.03479	-2.496000	0.00513	0.484000	0.47621	CGA		0.542	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
SLCO6A1	133482	broad.mit.edu	37	5	101834423	101834423	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:101834423C>T	ENST00000506729.1	-	1	297	c.126G>A	c.(124-126)tcG>tcA	p.S42S	SLCO6A1_ENST00000389019.3_Silent_p.S42S|SLCO6A1_ENST00000513675.1_Silent_p.S42S|SLCO6A1_ENST00000379807.3_Silent_p.S42S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.S42S|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S42S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCCCGGGCTTCGAGGACTTCG	0.577																																					p.S42S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	5						.						126.0	143.0	137.0					5																	101834423		2203	4300	6503	101862322	SO:0001819	synonymous_variant	133482	exon1			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.126G>A	5.37:g.101834423C>T		Somatic		Capture	Illumina HiSeq	Phase_I	101862322	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	CCDS34206.1																																																																																				0.577	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PAM	5066	broad.mit.edu	37	5	102309960	102309960	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:102309960C>A	ENST00000438793.3	+	14	1773	c.1303C>A	c.(1303-1305)Ctt>Att	p.L435I	PAM_ENST00000348126.2_Intron|PAM_ENST00000346918.2_Missense_Mutation_p.L435I|PAM_ENST00000274392.9_Missense_Mutation_p.L338I|PAM_ENST00000304400.7_Missense_Mutation_p.L435I|PAM_ENST00000379787.4_De_novo_Start_OutOfFrame|PAM_ENST00000455264.2_Missense_Mutation_p.L435I	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	435	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.L435I(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAAAAAGGATCTTGGTCGATC	0.418																																					p.L435I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1303A	5						.						137.0	121.0	127.0					5																	102309960		2203	4300	6503	102337859	SO:0001583	missense	5066	exon14			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1303C>A	5.37:g.102309960C>A	ENSP00000396493:p.Leu435Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102337859	NM_138822	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.790527|2.790527	0.50102|0.50102	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578|ENST00000379799	T;T;T;T;T|.	0.66460|.	0.64;0.5;0.64;-0.21;0.53|.	5.44|5.44	4.56|4.56	0.56223|0.56223	.|.	0.140128|.	0.49305|.	D|.	0.000149|.	T|T	0.69097|0.69097	0.3073|0.3073	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B;P;P;P|.	0.41673|.	0.499;0.366;0.759;0.576;0.499|.	B;B;B;B;B|.	0.43331|.	0.302;0.237;0.416;0.153;0.416|.	T|T	0.67783|0.67783	-0.5581|-0.5581	10|5	0.33141|.	T|.	0.24|.	.|.	16.6003|16.6003	0.84812|0.84812	0.0:0.8697:0.1303:0.0|0.0:0.8697:0.1303:0.0	.|.	338;435;435;435;435|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5|.	.;AMD_HUMAN;.;.;.|.	I|Y	435;435;435;338;435;78|207	ENSP00000396493:L435I;ENSP00000282992:L435I;ENSP00000306100:L435I;ENSP00000274392:L338I;ENSP00000403461:L435I|.	ENSP00000274392:L338I|.	L|S	+|+	1|2	0|0	PAM|PAM	102337859|102337859	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.918000|0.918000	0.54935|0.54935	3.780000|3.780000	0.55386|0.55386	1.411000|1.411000	0.46957|0.46957	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.418	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
PAM	5066	broad.mit.edu	37	5	102355501	102355501	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:102355501A>G	ENST00000438793.3	+	22	2909	c.2439A>G	c.(2437-2439)gaA>gaG	p.E813E	PAM_ENST00000348126.2_Silent_p.E706E|PAM_ENST00000346918.2_Silent_p.E813E|PAM_ENST00000274392.9_Silent_p.E716E|PAM_ENST00000304400.7_Silent_p.E813E|PAM_ENST00000379787.4_Silent_p.E193E|PAM_ENST00000455264.2_Silent_p.E813E	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	813	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.E813E(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGAATTGGAACATCGATCAG	0.338																																					p.E813E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2439G	5						.						107.0	109.0	109.0					5																	102355501		2203	4300	6503	102383400	SO:0001819	synonymous_variant	5066	exon22			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2439A>G	5.37:g.102355501A>G		Somatic		Capture	Illumina HiSeq	Phase_I	102383400	NM_138822	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.767|8.767	0.924889|0.924889	0.18056|0.18056	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.17|6.17	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.63861|0.63861	0.2547|0.2547	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63862|0.63862	-0.6541|-0.6541	4|4	.|.	.|.	.|.	.|.	14.0398|14.0398	0.64667|0.64667	0.4446:0.0:0.5554:0.0|0.4446:0.0:0.5554:0.0	.|.	.|.	.|.	.|.	S|A	108|586	.|.	.|.	N|T	+|+	2|1	0|0	PAM|PAM	102383400|102383400	0.998000|0.998000	0.40836|0.40836	0.992000|0.992000	0.48379|0.48379	0.929000|0.929000	0.56500|0.56500	0.540000|0.540000	0.23191|0.23191	-0.229000|-0.229000	0.09854|0.09854	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.338	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
GIN1	54826	broad.mit.edu	37	5	102423619	102423619	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:102423619G>A	ENST00000399004.2	-	8	1646	c.1552C>T	c.(1552-1554)Ctt>Ttt	p.L518F	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	518					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.L518F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AAGTATTCAAGAACCTGGTTT	0.269																																					p.L518F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1552T	5						.						41.0	38.0	39.0					5																	102423619		1802	4065	5867	102451518	SO:0001583	missense	54826	exon8			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1552C>T	5.37:g.102423619G>A	ENSP00000381970:p.Leu518Phe	Somatic		Capture	Illumina HiSeq	Phase_I	102451518	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771576	0.69992	.	.	ENSG00000145723	ENST00000399004	T	0.23147	1.92	5.67	4.74	0.60224	.	0.563857	0.13293	U	0.398872	T	0.27205	0.0667	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	T	0.01688	-1.1295	10	0.72032	D	0.01	-19.1792	7.0187	0.24902	0.0837:0.0:0.6626:0.2537	.	518	Q9NXP7	GIN1_HUMAN	F	518	ENSP00000381970:L518F	ENSP00000381970:L518F	L	-	1	0	GIN1	102451518	0.990000	0.36364	1.000000	0.80357	0.989000	0.77384	1.969000	0.40510	2.829000	0.97493	0.655000	0.94253	CTT		0.269	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
PPIP5K2	23262	broad.mit.edu	37	5	102508931	102508931	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:102508931C>T	ENST00000358359.3	+	20	2868	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R787C|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R787C|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	787					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R787C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAGAAAAATTCGCTCAGACCT	0.353																																					p.R787C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2359T	5						.						79.0	83.0	82.0					5																	102508931		2203	4300	6503	102536830	SO:0001583	missense	23262	exon19			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2359C>T	5.37:g.102508931C>T	ENSP00000351126:p.Arg787Cys	Somatic		Capture	Illumina HiSeq	Phase_I	102536830	NM_015216	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.942909	0.92526	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.50786	0.1636	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;P;D	0.64877	0.892;0.886;0.93	T	0.49986	-0.8880	10	0.72032	D	0.01	.	19.3591	0.94428	0.0:1.0:0.0:0.0	.	787;787;787	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	C	787;787;787;787;61	ENSP00000313070:R787C;ENSP00000351126:R787C;ENSP00000416016:R787C;ENSP00000424948:R61C	ENSP00000313070:R787C	R	+	1	0	PPIP5K2	102536830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.572000	0.86782	0.650000	0.86243	CGC		0.353	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
CCT5	22948	broad.mit.edu	37	5	10256073	10256073	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:10256073C>A	ENST00000280326.4	+	4	758	c.338C>A	c.(337-339)gCt>gAt	p.A113D	CCT5_ENST00000506600.1_Missense_Mutation_p.A20D|CCT5_ENST00000503026.1_Missense_Mutation_p.A92D|CCT5_ENST00000515390.1_Missense_Mutation_p.A58D|CCT5_ENST00000515676.1_Missense_Mutation_p.A75D	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	113					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.A113D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GCAGTCCTGGCTGGTGCCTTG	0.448																																					p.A113D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C338A	5						.						64.0	56.0	59.0					5																	10256073		2203	4300	6503	10309073	SO:0001583	missense	22948	exon4			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.338C>A	5.37:g.10256073C>A	ENSP00000280326:p.Ala113Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10309073	NM_012073	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286445	0.95517	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96100	0.8729	H	0.99922	4.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.996;0.996	D	0.98256	1.0496	10	0.87932	D	0	-12.5405	18.6888	0.91576	0.0:1.0:0.0:0.0	.	20;58;111;113;113	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	D	113;92;58;86;75;20	ENSP00000280326:A113D;ENSP00000423318:A92D;ENSP00000426923:A58D;ENSP00000427297:A75D;ENSP00000423052:A20D	ENSP00000280326:A113D	A	+	2	0	CCT5	10309073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	2.651000	0.90000	0.644000	0.83932	GCT		0.448	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2		
MARCH6	10299	broad.mit.edu	37	5	10378927	10378927	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:10378927G>T	ENST00000274140.5	+	3	305	c.173G>T	c.(172-174)aGa>aTa	p.R58I	MARCH6_ENST00000449913.2_Missense_Mutation_p.R58I|MARCH6_ENST00000503788.1_Intron	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	58					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R58I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGCAAGCACAGATTTGCTTTT	0.338																																					p.R58I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173T	5						.						130.0	118.0	122.0					5																	10378927		2202	4300	6502	10431927	SO:0001583	missense	10299	exon3			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.173G>T	5.37:g.10378927G>T	ENSP00000274140:p.Arg58Ile	Somatic		Capture	Illumina HiSeq	Phase_I	10431927	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260107	0.95368	.	.	ENSG00000145495	ENST00000449913;ENST00000274140	T;T	0.29655	1.56;1.56	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.66196	0.942;0.732	T	0.56836	-0.7913	10	0.52906	T	0.07	-19.6198	20.4375	0.99097	0.0:0.0:1.0:0.0	.	58;58	B4DT33;O60337	.;MARH6_HUMAN	I	58	ENSP00000414643:R58I;ENSP00000274140:R58I	ENSP00000274140:R58I	R	+	2	0	MARCH6	10431927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.450000	0.97607	2.906000	0.99361	0.655000	0.94253	AGA		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
C5orf30	90355	broad.mit.edu	37	5	102611630	102611630	+	Missense_Mutation	SNP	G	G	A	rs189792579		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:102611630G>A	ENST00000319933.2	+	3	318	c.10G>A	c.(10-12)Gat>Aat	p.D4N	C5orf30_ENST00000510890.1_Missense_Mutation_p.D4N|C5orf30_ENST00000515669.1_Missense_Mutation_p.D4N	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	4					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)		p.D4N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AATGGAAGTCGATATTAATGG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20032	0.0		0.0	False		,,,				2504	0.0				p.D4N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10A	5						.	G	ASN/ASP	2,4394		0,2,2196	34.0	37.0	36.0		10	6.1	1.0	5		36	0,8584		0,0,4292	yes	missense	C5orf30	NM_033211.2	23	0,2,6488	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	4/207	102611630	2,12978	2198	4292	6490	102639529	SO:0001583	missense	90355	exon3				CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.10G>A	5.37:g.102611630G>A	ENSP00000326110:p.Asp4Asn	Somatic		Capture	Illumina HiSeq	Phase_I	102639529	NM_033211		Missense_Mutation	SNP	ENST00000319933.2	37	CCDS4095.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.423303	0.96111	4.55E-4	0.0	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74368	-0.3688	9	0.87932	D	0	-26.684	20.6208	0.99490	0.0:0.0:1.0:0.0	.	4	Q96GV9	CE030_HUMAN	N	4	.	ENSP00000326110:D4N	D	+	1	0	C5orf30	102639529	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.115000	0.77110	2.882000	0.98803	0.655000	0.94253	GAT		0.507	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211	
FER	2241	broad.mit.edu	37	5	108380493	108380493	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:108380493C>T	ENST00000281092.4	+	15	2210	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	FER_ENST00000438717.2_Missense_Mutation_p.A434V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.A609V(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTACAAGAAGCCAAGTGAGtt	0.239																																					p.A609V	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1826T	5						.						43.0	48.0	47.0					5																	108380493		2186	4288	6474	108408392	SO:0001583	missense	2241	exon15			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1826C>T	5.37:g.108380493C>T	ENSP00000281092:p.Ala609Val	Somatic		Capture	Illumina HiSeq	Phase_I	108408392	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	35	5.581810	0.96578	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.32272	1.46;1.46	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.142736	0.64402	D	0.000007	T	0.43010	0.1228	L	0.28115	0.83	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.37174	-0.9717	10	0.87932	D	0	-6.0042	19.8131	0.96556	0.0:1.0:0.0:0.0	.	609	P16591	FER_HUMAN	V	609;434	ENSP00000281092:A609V;ENSP00000394297:A434V	ENSP00000281092:A609V	A	+	2	0	FER	108408392	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.614000	0.82996	2.754000	0.94517	0.585000	0.79938	GCC		0.239	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
FER	2241	broad.mit.edu	37	5	108521974	108521974	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:108521974T>C	ENST00000281092.4	+	19	2661	c.2277T>C	c.(2275-2277)tgT>tgC	p.C759C	FER_ENST00000438717.2_Silent_p.C584C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	759	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.C759C(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TAGGGGTTTGTCCGTACCCTG	0.493																																					p.C759C	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2277C	5						.						251.0	228.0	236.0					5																	108521974		2202	4300	6502	108549873	SO:0001819	synonymous_variant	2241	exon19			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2277T>C	5.37:g.108521974T>C		Somatic		Capture	Illumina HiSeq	Phase_I	108549873	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																				0.493	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
MAN2A1	4124	broad.mit.edu	37	5	109120470	109120470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:109120470G>A	ENST00000261483.4	+	10	2655	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	535					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.A535T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACTATTTCGCCCTGAGACA	0.328																																					p.A535T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1603A	5						.						68.0	69.0	69.0					5																	109120470		2202	4300	6502	109148369	SO:0001583	missense	4124	exon10				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1603G>A	5.37:g.109120470G>A	ENSP00000261483:p.Ala535Thr	Somatic		Capture	Illumina HiSeq	Phase_I	109148369	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840232	0.91117	.	.	ENSG00000112893	ENST00000261483	D	0.85258	-1.96	5.95	5.95	0.96441	Glycoside hydrolase, family 38, central domain (2);	0.107337	0.64402	D	0.000004	D	0.87708	0.6245	L	0.55743	1.74	0.58432	D	0.999998	P	0.41947	0.766	P	0.47402	0.546	D	0.87026	0.2132	10	0.54805	T	0.06	-15.1371	20.3931	0.98965	0.0:0.0:1.0:0.0	.	535	Q16706	MA2A1_HUMAN	T	535	ENSP00000261483:A535T	ENSP00000261483:A535T	A	+	1	0	MAN2A1	109148369	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.785000	0.75089	2.824000	0.97209	0.655000	0.94253	GCC		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
WDR36	134430	broad.mit.edu	37	5	110428069	110428069	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:110428069G>T	ENST00000513710.2	+	1	87	c.83G>T	c.(82-84)aGg>aTg	p.R28M	WDR36_ENST00000506538.2_Missense_Mutation_p.R28M|CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_5'UTR			Q8NI36	WDR36_HUMAN	WD repeat domain 36	28					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.R28M(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTCTGGCAGAGGACTGTTCCA	0.597																																					p.R28M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83T	5						.						70.0	77.0	75.0					5																	110428069		2202	4300	6502	110455968	SO:0001583	missense	134430	exon1			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.83G>T	5.37:g.110428069G>T	ENSP00000424628:p.Arg28Met	Somatic		Capture	Illumina HiSeq	Phase_I	110455968	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371547	0.24771	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.68331	-0.32;-0.32	4.7	-1.8	0.07907	.	3.081050	0.01024	N	0.004035	T	0.45458	0.1343	N	0.08118	0	0.20196	N	0.999924	B	0.22683	0.073	B	0.25987	0.065	T	0.33624	-0.9861	10	0.87932	D	0	12.6157	2.0688	0.03609	0.1991:0.0992:0.3944:0.3072	.	28	Q8NI36	WDR36_HUMAN	M	28	ENSP00000423067:R28M;ENSP00000424628:R28M	ENSP00000423067:R28M	R	+	2	0	WDR36	110455968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.650000	0.24858	-0.854000	0.04131	-1.944000	0.00493	AGG		0.597	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
CAMK4	814	broad.mit.edu	37	5	110730452	110730452	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:110730452C>T	ENST00000282356.4	+	5	829	c.431C>T	c.(430-432)gCc>gTc	p.A144V	CAMK4_ENST00000512453.1_Missense_Mutation_p.A144V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A144V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTGCAGATGCCGTTAAACAA	0.388																																					p.A144V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	5						.						140.0	139.0	139.0					5																	110730452		2202	4300	6502	110758351	SO:0001583	missense	814	exon5			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.431C>T	5.37:g.110730452C>T	ENSP00000282356:p.Ala144Val	Somatic		Capture	Illumina HiSeq	Phase_I	110758351	NM_001744	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732273	0.48939	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.45668	0.89;0.89	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184026	0.46758	D	0.000265	T	0.20577	0.0495	N	0.00996	-1.065	0.58432	D	0.999999	P	0.38827	0.649	B	0.40659	0.336	T	0.31392	-0.9945	9	.	.	.	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	144	Q16566	KCC4_HUMAN	V	144	ENSP00000422634:A144V;ENSP00000282356:A144V	.	A	+	2	0	CAMK4	110758351	0.998000	0.40836	0.999000	0.59377	0.954000	0.61252	4.322000	0.59215	2.680000	0.91292	0.467000	0.42956	GCC		0.388	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
CTNND2	1501	broad.mit.edu	37	5	11082937	11082937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:11082937C>T	ENST00000304623.8	-	16	2848	c.2659G>A	c.(2659-2661)Gct>Act	p.A887T	CTNND2_ENST00000359640.2_Missense_Mutation_p.A829T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A454T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A550T|CTNND2_ENST00000511377.1_Missense_Mutation_p.A796T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	887					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A887T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTCGGACAGCGGCTCGGATA	0.542																																					p.A887T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2659A	5						.						77.0	70.0	72.0					5																	11082937		2203	4300	6503	11135937	SO:0001583	missense	1501	exon16			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2659G>A	5.37:g.11082937C>T	ENSP00000307134:p.Ala887Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11135937	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448832	0.84101	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	N	0.04820	-0.15	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.70135	-0.4955	10	0.21540	T	0.41	-8.8044	18.4893	0.90841	0.0:1.0:0.0:0.0	.	550;479;887	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	887;829;796;454;550	ENSP00000307134:A887T;ENSP00000352661:A829T;ENSP00000426510:A796T;ENSP00000391155:A454T;ENSP00000426887:A550T	ENSP00000307134:A887T	A	-	1	0	CTNND2	11135937	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.007000	0.70731	2.439000	0.82584	0.563000	0.77884	GCT		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:11117571G>A	ENST00000304623.8	-	13	2457	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000511377.1_Silent_p.I665I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527																																					p.I756I												.	.	4	Substitution - coding silent(4)	large_intestine(3)|lung(1)	c.C2268T	5						.						190.0	168.0	176.0					5																	11117571		2203	4300	6503	11170571	SO:0001819	synonymous_variant	1501	exon13			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2268C>T	5.37:g.11117571G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11170571	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
CAMK4	814	broad.mit.edu	37	5	110819882	110819882	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:110819882C>T	ENST00000282356.4	+	11	1538	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	CAMK4_ENST00000512453.1_Silent_p.G380G|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	380					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.G380G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AAATTCAAGGCGATGGGGCCC	0.522																																					p.G380G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140T	5						.						57.0	61.0	60.0					5																	110819882		2202	4300	6502	110847781	SO:0001819	synonymous_variant	814	exon11			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1140C>T	5.37:g.110819882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	110847781	NM_001744	D3DSZ7	Silent	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																				0.522	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
APC	324	broad.mit.edu	37	5	112090592	112090592	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112090592C>A	ENST00000457016.1	+	2	385	c.5C>A	c.(4-6)gCt>gAt	p.A2D	APC_ENST00000505350.1_3'UTR|APC_ENST00000508376.2_Missense_Mutation_p.A2D|APC_ENST00000257430.4_Missense_Mutation_p.A2D			P25054	APC_HUMAN	adenomatous polyposis coli	2	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A2D(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAAGGATGGCTGCAGCTTCA	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A2D	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	5						.						75.0	74.0	74.0					5																	112090592		2202	4300	6502	112118491	SO:0001583	missense	324	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5C>A	5.37:g.112090592C>A	ENSP00000413133:p.Ala2Asp	Somatic		Capture	Illumina HiSeq	Phase_I	112118491	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167266	0.94768	.	.	ENSG00000134982	ENST00000509732;ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	T;D;D;D;D	0.86627	2.33;-2.15;-2.15;-2.15;-2.15	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90821	0.4709	10	0.87932	D	0	-18.247	19.7528	0.96275	0.0:1.0:0.0:0.0	.	2	P25054	APC_HUMAN	D	2	ENSP00000426541:A2D;ENSP00000413133:A2D;ENSP00000257430:A2D;ENSP00000427089:A2D;ENSP00000423828:A2D	ENSP00000257430:A2D	A	+	2	0	APC	112118491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.179000	0.77665	2.673000	0.90976	0.591000	0.81541	GCT		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112163669	112163669	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112163669C>T	ENST00000457016.1	+	13	1972	c.1592C>T	c.(1591-1593)gCc>gTc	p.A531V	APC_ENST00000508376.2_Missense_Mutation_p.A531V|APC_ENST00000257430.4_Missense_Mutation_p.A531V|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.P27S			P25054	APC_HUMAN	adenomatous polyposis coli	531	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A531V(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCACTTGTGGCCCAACTAAAA	0.378		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A513V	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C1538T	5						.						94.0	91.0	92.0					5																	112163669		2202	4300	6502	112191568	SO:0001583	missense	324	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1592C>T	5.37:g.112163669C>T	ENSP00000413133:p.Ala531Val	Somatic		Capture	Illumina HiSeq	Phase_I	112191568	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449693	0.96205	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.79771	-0.1663	10	0.87932	D	0	-10.4058	19.6223	0.95663	0.0:1.0:0.0:0.0	.	533;531	Q4LE70;P25054	.;APC_HUMAN	V	531;513;531;531;531	ENSP00000413133:A531V;ENSP00000423224:A513V;ENSP00000257430:A531V;ENSP00000427089:A531V;ENSP00000423828:A531V	ENSP00000257430:A531V	A	+	2	0	APC	112191568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.707000	0.92482	0.655000	0.94253	GCC		0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112170665	112170665	+	Silent	SNP	C	C	T	rs370783137		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112170665C>T	ENST00000457016.1	+	15	2141	c.1761C>T	c.(1759-1761)agC>agT	p.S587S	APC_ENST00000508376.2_Silent_p.S587S|APC_ENST00000257430.4_Silent_p.S587S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	587	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)|p.S587S(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCCTCAAAAGCGTATTGAGTG	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S569S	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|skin(1)	c.C1707T	5						.	C	,,	1,4403	2.1+/-5.4	0,1,2201	153.0	130.0	138.0		1761,1761,1707	-3.0	0.9	5		138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	587/2844,587/2844,569/2826	112170665	1,13003	2202	4300	6502	112198564	SO:0001819	synonymous_variant	324	exon13	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1761C>T	5.37:g.112170665C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112198564	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R1432X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Nonsense,0 	.	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	c.C4294T	5	GRCh37	CM930030	APC	M	rs121913332	.						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*	Somatic		Capture	Illumina HiSeq	Phase_I	112203538	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112176277	112176277	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112176277C>T	ENST00000457016.1	+	16	5366	c.4986C>T	c.(4984-4986)atC>atT	p.I1662I	APC_ENST00000508376.2_Silent_p.I1662I|APC_ENST00000257430.4_Silent_p.I1662I|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1662	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I1662I(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCTAACAATCGAATCCCCTC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.I1644I	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	3	Unknown(1)|Substitution - coding silent(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	c.C4932T	5						.						69.0	66.0	67.0					5																	112176277		2202	4300	6502	112204176	SO:0001819	synonymous_variant	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4986C>T	5.37:g.112176277C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112204176	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112178577	112178577	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112178577C>T	ENST00000457016.1	+	16	7666	c.7286C>T	c.(7285-7287)tCt>tTt	p.S2429F	APC_ENST00000508376.2_Missense_Mutation_p.S2429F|APC_ENST00000257430.4_Missense_Mutation_p.S2429F|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2429	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S2429F(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGTGAATCTGATAGATCA	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S2411F	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C7232T	5						.						72.0	73.0	73.0					5																	112178577		2202	4300	6502	112206476	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7286C>T	5.37:g.112178577C>T	ENSP00000413133:p.Ser2429Phe	Somatic		Capture	Illumina HiSeq	Phase_I	112206476	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495684	0.64186	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.86562	-2.14;-2.14;-2.14	6.06	6.06	0.98353	Adenomatous polyposis coli protein basic domain (1);	0.150241	0.64402	D	0.000012	D	0.93074	0.7795	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	D	0.91395	0.5138	9	.	.	.	-14.8345	20.6208	0.99490	0.0:1.0:0.0:0.0	.	2431;2429	Q4LE70;P25054	.;APC_HUMAN	F	2429	ENSP00000413133:S2429F;ENSP00000257430:S2429F;ENSP00000427089:S2429F	.	S	+	2	0	APC	112206476	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.454000	0.66651	2.882000	0.98803	0.655000	0.94253	TCT		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	broad.mit.edu	37	5	112418587	112418587	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112418587T>A	ENST00000302475.4	-	9	1747	c.1184A>T	c.(1183-1185)gAg>gTg	p.E395V	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E332V|MCC_ENST00000408903.3_Missense_Mutation_p.E585V	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	395					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E395V(1)|p.E585V(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CACCTCAAACTCTCTAATCTT	0.478																																					p.E585V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1754T	5						.						254.0	210.0	225.0					5																	112418587		2202	4300	6502	112446486	SO:0001583	missense	4163	exon11				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1184A>T	5.37:g.112418587T>A	ENSP00000305617:p.Glu395Val	Somatic		Capture	Illumina HiSeq	Phase_I	112446486	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406657	0.83230	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39592	2.23;2.24;1.07	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.27053	0.805	0.58432	D	0.999998	D;P;D;B	0.61080	0.981;0.824;0.989;0.274	D;B;D;B	0.72625	0.95;0.403;0.978;0.112	T	0.55724	-0.8096	10	0.66056	D	0.02	-24.1463	14.5846	0.68315	0.0:0.0:0.0:1.0	.	395;357;585;395	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	V	395;332;585	ENSP00000305617:E395V;ENSP00000421615:E332V;ENSP00000386227:E585V	ENSP00000305617:E395V	E	-	2	0	MCC	112446486	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.352000	0.73027	1.908000	0.55244	0.383000	0.25322	GAG		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
TSSK1B	83942	broad.mit.edu	37	5	112769820	112769820	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112769820C>T	ENST00000390666.3	-	1	908	c.717G>A	c.(715-717)aaG>aaA	p.K239K	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.K239K(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCAGGTGCTTGGAGCGTG	0.587																																					p.K239K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G717A	5						.						82.0	74.0	77.0					5																	112769820		2202	4300	6502	112797719	SO:0001819	synonymous_variant	83942	exon1			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.717G>A	5.37:g.112769820C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112797719	NM_032028	B2R8D9	Silent	SNP	ENST00000390666.3	37	CCDS4112.1																																																																																				0.587	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
TSSK1B	83942	broad.mit.edu	37	5	112770407	112770407	+	Missense_Mutation	SNP	C	C	T	rs371539722		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112770407C>T	ENST00000390666.3	-	1	321	c.130G>A	c.(130-132)Gac>Aac	p.D44N	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	44	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D44N(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTCTTGCGGTCGATGATCTTG	0.483																																					p.D44N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G130A	5						.						52.0	57.0	55.0					5																	112770407		2181	4289	6470	112798306	SO:0001583	missense	83942	exon1			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.130G>A	5.37:g.112770407C>T	ENSP00000375081:p.Asp44Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112798306	NM_032028	B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350844	0.61183	.	.	ENSG00000212122	ENST00000390666	T	0.64260	-0.09	2.67	2.67	0.31697	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	0.36101	U	0.002798	T	0.47838	0.1467	N	0.17248	0.465	0.32757	N	0.505575	P	0.47302	0.893	P	0.45167	0.472	T	0.62831	-0.6771	10	0.59425	D	0.04	.	11.0865	0.48091	0.0:1.0:0.0:0.0	.	44	Q9BXA7	TSSK1_HUMAN	N	44	ENSP00000375081:D44N	ENSP00000375081:D44N	D	-	1	0	TSSK1B	112798306	0.984000	0.35163	0.996000	0.52242	0.813000	0.45954	2.745000	0.47459	1.538000	0.49270	0.563000	0.77884	GAC		0.483	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
TSSK1B	83942	broad.mit.edu	37	5	112770520	112770520	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112770520A>G	ENST00000390666.3	-	1	208	c.17T>C	c.(16-18)gTc>gCc	p.V6A	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	6					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.V6A(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCGCTTGAGGACAGCAGCGTC	0.557																																					p.V6A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T17C	5						.						41.0	43.0	43.0					5																	112770520		2131	4266	6397	112798419	SO:0001583	missense	83942	exon1			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.17T>C	5.37:g.112770520A>G	ENSP00000375081:p.Val6Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112798419	NM_032028	B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091409	0.20471	.	.	ENSG00000212122	ENST00000390666	T	0.68331	-0.32	2.67	2.67	0.31697	.	0.266897	0.19429	U	0.114498	T	0.50292	0.1607	L	0.28608	0.87	0.24677	N	0.993381	B	0.21225	0.053	B	0.16722	0.016	T	0.47195	-0.9136	10	0.59425	D	0.04	.	7.1084	0.25376	1.0:0.0:0.0:0.0	.	6	Q9BXA7	TSSK1_HUMAN	A	6	ENSP00000375081:V6A	ENSP00000375081:V6A	V	-	2	0	TSSK1B	112798419	1.000000	0.71417	0.997000	0.53966	0.399000	0.30720	3.394000	0.52551	1.260000	0.44134	0.460000	0.39030	GTC		0.557	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
YTHDC2	64848	broad.mit.edu	37	5	112884292	112884292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112884292G>A	ENST00000161863.4	+	11	1763	c.1550G>A	c.(1549-1551)cGt>cAt	p.R517H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R517H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	517					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.R517H(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCTGCAGGACGTGGCTTTGCA	0.358																																					p.R517H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1550A	5						.						119.0	122.0	121.0					5																	112884292		2202	4300	6502	112912191	SO:0001583	missense	64848	exon11			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1550G>A	5.37:g.112884292G>A	ENSP00000161863:p.Arg517His	Somatic		Capture	Illumina HiSeq	Phase_I	112912191	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028610	0.54790	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.64991	-0.13;-0.13	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.145914	0.47455	D	0.000231	T	0.46946	0.1419	L	0.28608	0.87	0.40210	D	0.977618	P	0.35807	0.522	B	0.27608	0.081	T	0.53704	-0.8401	10	0.54805	T	0.06	.	12.7731	0.57432	0.076:0.0:0.924:0.0	.	517	Q9H6S0	YTDC2_HUMAN	H	517;517;427	ENSP00000161863:R517H;ENSP00000423101:R517H	ENSP00000161863:R517H	R	+	2	0	YTHDC2	112912191	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.536000	0.67180	2.667000	0.90743	0.557000	0.71058	CGT		0.358	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
YTHDC2	64848	broad.mit.edu	37	5	112889319	112889319	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:112889319G>A	ENST00000161863.4	+	14	2113	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E634K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	634	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.E634K(2)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATATGACGAAATTGTTGG	0.363																																					p.E634K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1900A	5						.						135.0	132.0	133.0					5																	112889319		2202	4300	6502	112917218	SO:0001583	missense	64848	exon14			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1900G>A	5.37:g.112889319G>A	ENSP00000161863:p.Glu634Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112917218	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346700	0.82022	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.72167	0.76;-0.63	5.56	5.56	0.83823	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.88842	2.985	0.47778	D	0.999518	P	0.52692	0.955	B	0.42653	0.394	D	0.83722	0.0193	10	0.59425	D	0.04	.	19.5081	0.95127	0.0:0.0:1.0:0.0	.	634	Q9H6S0	YTDC2_HUMAN	K	634;634;544	ENSP00000161863:E634K;ENSP00000423101:E634K	ENSP00000161863:E634K	E	+	1	0	YTHDC2	112917218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.133000	0.77259	2.597000	0.87782	0.650000	0.86243	GAA		0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
CTNND2	1501	broad.mit.edu	37	5	11346569	11346569	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:11346569G>T	ENST00000304623.8	-	9	1732	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	CTNND2_ENST00000359640.2_Missense_Mutation_p.P515T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.P82T|CTNND2_ENST00000503622.1_Missense_Mutation_p.P178T|CTNND2_ENST00000511377.1_Missense_Mutation_p.P424T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	515					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P515T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGCTGTATGGAGACTCAACA	0.602																																					p.P515T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543A	5						.						108.0	113.0	111.0					5																	11346569		2203	4300	6503	11399569	SO:0001583	missense	1501	exon9			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1543C>A	5.37:g.11346569G>T	ENSP00000307134:p.Pro515Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11399569	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789727	0.90367	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77489	-0.99;-1.06;-0.99;-1.09;-1.1	5.9	5.9	0.94986	.	0.198452	0.44902	D	0.000420	D	0.82660	0.5085	L	0.54323	1.7	0.58432	D	0.999995	B;B;D	0.63880	0.321;0.155;0.993	B;B;P	0.53954	0.136;0.096;0.738	T	0.79678	-0.1703	10	0.33940	T	0.23	-9.4511	20.3298	0.98711	0.0:0.0:1.0:0.0	.	178;82;515	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	515;515;424;82;178	ENSP00000307134:P515T;ENSP00000352661:P515T;ENSP00000426510:P424T;ENSP00000391155:P82T;ENSP00000426887:P178T	ENSP00000307134:P515T	P	-	1	0	CTNND2	11399569	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.434000	0.97515	2.810000	0.96702	0.585000	0.79938	CCA		0.602	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
KCNN2	3781	broad.mit.edu	37	5	113831789	113831789	+	Silent	SNP	C	C	T	rs573113551		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:113831789C>T	ENST00000512097.3	+	9	2668	c.1650C>T	c.(1648-1650)caC>caT	p.H550H	KCNN2_ENST00000503706.1_Silent_p.H202H|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.H550H			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	550					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.H550H(2)|p.H202H(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACGACAAGCACGTCACTTACA	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		17795	0.001		0.0	False		,,,				2504	0.0				p.H550H												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C1650T	5						.						120.0	114.0	116.0					5																	113831789		2202	4300	6502	113859688	SO:0001819	synonymous_variant	3781	exon8			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1650C>T	5.37:g.113831789C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113859688	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	CCDS4114.1																																																																																				0.547	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
AP3S1	1176	broad.mit.edu	37	5	115177764	115177764	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:115177764C>A	ENST00000316788.7	+	1	587	c.30C>A	c.(28-30)aaC>aaA	p.N10K	ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	10					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)	p.N10K(1)		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)		TCTTCAACAACCACGGGAAGC	0.692																																					p.N10K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C30A	5						.						14.0	15.0	15.0					5																	115177764		2202	4299	6501	115205663	SO:0001583	missense	1176	exon1			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.30C>A	5.37:g.115177764C>A	ENSP00000325369:p.Asn10Lys	Somatic		Capture	Illumina HiSeq	Phase_I	115205663	NM_001284	O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433897	0.96150	.	.	ENSG00000177879	ENST00000316788	T	0.41400	1.0	5.25	5.25	0.73442	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.49126	1.545	0.58432	D	0.999991	D;D	0.63046	0.992;0.992	D;D	0.66351	0.943;0.943	T	0.59778	-0.7390	10	0.62326	D	0.03	.	17.9779	0.89132	0.0:1.0:0.0:0.0	.	10;10	B2R4I8;Q92572	.;AP3S1_HUMAN	K	10	ENSP00000325369:N10K	ENSP00000325369:N10K	N	+	3	2	AP3S1	115205663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.916000	0.56416	2.617000	0.88574	0.655000	0.94253	AAC		0.692	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
LVRN	206338	broad.mit.edu	37	5	115320353	115320353	+	Missense_Mutation	SNP	G	G	A	rs377469881		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:115320353G>A	ENST00000357872.4	+	3	1049	c.925G>A	c.(925-927)Gca>Aca	p.A309T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		309						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A309T(2)									TTACTTAGTCGCATTTGTTAT	0.433																																					p.A309T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G925A	5						.	G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	116.0	88.0	98.0		925	4.9	0.1	5		98	0,8600		0,0,4300	no	missense	AQPEP	NM_173800.4	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	309/991	115320353	1,13003	2202	4300	6502	115348252	SO:0001583	missense	206338	exon3																														ENST00000357872.4:c.925G>A	5.37:g.115320353G>A	ENSP00000350541:p.Ala309Thr	Somatic		Capture	Illumina HiSeq	Phase_I	115348252	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390618	0.62066	2.27E-4	0.0	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.09630	2.96	4.93	4.93	0.64822	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.64402	D	0.000009	T	0.46073	0.1374	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62062	-0.6933	10	0.72032	D	0.01	.	17.274	0.87110	0.0:0.0:1.0:0.0	.	309	Q6Q4G3	AMPQ_HUMAN	T	309;298	ENSP00000350541:A309T	ENSP00000350541:A309T	A	+	1	0	AC010282.1	115348252	1.000000	0.71417	0.083000	0.20561	0.159000	0.22180	5.966000	0.70395	2.449000	0.82847	0.557000	0.71058	GCA		0.433	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
LVRN	206338	broad.mit.edu	37	5	115346532	115346532	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:115346532T>G	ENST00000357872.4	+	14	2312	c.2188T>G	c.(2188-2190)Ttg>Gtg	p.L730V		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		730						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L730V(1)									CTTGGTAAACTTGGTAACCAG	0.308																																					p.L730V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2188G	5						.						138.0	143.0	141.0					5																	115346532		2202	4300	6502	115374431	SO:0001583	missense	206338	exon14																														ENST00000357872.4:c.2188T>G	5.37:g.115346532T>G	ENSP00000350541:p.Leu730Val	Somatic		Capture	Illumina HiSeq	Phase_I	115374431	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040110	0.35989	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.09817	2.94	6.03	4.05	0.47172	.	0.000000	0.49305	D	0.000144	T	0.24928	0.0605	M	0.83774	2.66	0.30304	N	0.789179	D	0.67145	0.996	P	0.60345	0.873	T	0.23226	-1.0194	10	0.46703	T	0.11	.	3.474	0.07578	0.0:0.3639:0.2045:0.4315	.	730	Q6Q4G3	AMPQ_HUMAN	V	730;719	ENSP00000350541:L730V	ENSP00000350541:L730V	L	+	1	2	AC010282.1	115374431	0.991000	0.36638	0.995000	0.50966	0.187000	0.23431	1.661000	0.37408	1.348000	0.45733	0.533000	0.62120	TTG		0.308	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
LVRN	206338	broad.mit.edu	37	5	115351418	115351418	+	Silent	SNP	C	C	T	rs143698388		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:115351418C>T	ENST00000357872.4	+	18	2836	c.2712C>T	c.(2710-2712)gtC>gtT	p.V904V	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		904						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V904V(1)									GCCGGTATGTCGCAAAAGACT	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18521	0.0		0.0	False		,,,				2504	0.0				p.V904V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2712T	5						.	C		2,4402	4.2+/-10.8	0,2,2200	78.0	76.0	77.0		2712	-11.2	0.0	5	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	AQPEP	NM_173800.4		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		904/991	115351418	2,13002	2202	4300	6502	115379317	SO:0001819	synonymous_variant	206338	exon18																														ENST00000357872.4:c.2712C>T	5.37:g.115351418C>T		Somatic		Capture	Illumina HiSeq	Phase_I	115379317	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																				0.413	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
DMXL1	1657	broad.mit.edu	37	5	118485664	118485664	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:118485664G>A	ENST00000311085.8	+	18	4222	c.4142G>A	c.(4141-4143)aGc>aAc	p.S1381N	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381N	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381								p.S1381N(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTAGTGGAAGCACTACCAGA	0.448																																					p.S1381N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4142A	5						.						76.0	75.0	75.0					5																	118485664		2202	4300	6502	118513563	SO:0001583	missense	1657	exon18			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4142G>A	5.37:g.118485664G>A	ENSP00000309690:p.Ser1381Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118513563	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091469	0.55968	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.42131	0.98;0.98	5.43	2.53	0.30540	.	0.034797	0.85682	D	0.000000	T	0.41305	0.1153	M	0.75447	2.3	0.49299	D	0.999772	P;B	0.40000	0.698;0.008	B;B	0.35971	0.215;0.044	T	0.39502	-0.9611	10	0.52906	T	0.07	-0.947	12.2836	0.54779	0.0:0.1147:0.7037:0.1816	.	1381;1381	F5H269;Q9Y485	.;DMXL1_HUMAN	N	1381	ENSP00000309690:S1381N;ENSP00000439479:S1381N	ENSP00000309690:S1381N	S	+	2	0	DMXL1	118513563	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.335000	0.72949	0.300000	0.22699	0.563000	0.77884	AGC		0.448	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
TNFAIP8	25816	broad.mit.edu	37	5	118729012	118729012	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:118729012T>G	ENST00000503646.1	+	3	1221	c.533T>G	c.(532-534)tTt>tGt	p.F178C	TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.F168C|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.F180C|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.F178C|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.F190C			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	178					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)	p.F178C(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTTGGGAATTTTAAACCCCAC	0.363																																					p.F168C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T503G	5						.						88.0	91.0	90.0					5																	118729012		1855	4107	5962	118756911	SO:0001583	missense	25816	exon2			AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.533T>G	5.37:g.118729012T>G	ENSP00000421848:p.Phe178Cys	Somatic		Capture	Illumina HiSeq	Phase_I	118756911	NM_001077654	B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488742	0.44249	.	.	ENSG00000145779	ENST00000274456;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.93	3.24	0.37175	.	0.254426	0.33309	N	0.005044	T	0.34513	0.0900	N	0.20483	0.58	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;P	0.64506	0.926;0.912;0.83	T	0.06058	-1.0848	10	0.37606	T	0.19	-9.0694	11.3964	0.49845	0.3044:0.0:0.0:0.6956	.	190;178;168	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	C	168;190;178;178;180	ENSP00000274456:F168C;ENSP00000427424:F190C;ENSP00000422245:F178C;ENSP00000421848:F178C;ENSP00000427160:F180C	ENSP00000274456:F168C	F	+	2	0	TNFAIP8	118756911	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.045000	0.49838	1.051000	0.40369	0.482000	0.46254	TTT		0.363	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350	
FAM170A	340069	broad.mit.edu	37	5	118968500	118968500	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:118968500G>A	ENST00000515256.1	+	2	300	c.128G>A	c.(127-129)gGc>gAc	p.G43D				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	43					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G43D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GTGGCCAAAGGCTGGAGCCAA	0.517																																					p.G43D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128A	5						.						92.0	94.0	93.0					5																	118968500		1946	4126	6072	118996399	SO:0001583	missense	340069	exon2			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.128G>A	5.37:g.118968500G>A	ENSP00000422684:p.Gly43Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118996399	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	G	10.37	1.330736	0.24167	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T;T	0.28895	1.59;1.59	4.28	-2.33	0.06724	.	1.834120	0.02743	N	0.116527	T	0.15609	0.0376	N	0.16478	0.41	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.003	T	0.08351	-1.0726	9	.	.	.	3.4019	0.5266	0.00621	0.1933:0.2497:0.2187:0.3383	.	43;43	A1A519;A2VCN0	F170A_HUMAN;.	D	43	ENSP00000422684:G43D;ENSP00000423697:G43D	.	G	+	2	0	FAM170A	118996399	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.572000	0.05881	-0.486000	0.06744	0.655000	0.94253	GGC		0.517	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
ZNF474	133923	broad.mit.edu	37	5	121488283	121488283	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:121488283A>G	ENST00000296600.4	+	2	981	c.598A>G	c.(598-600)Aac>Gac	p.N200D	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	200							metal ion binding (GO:0046872)	p.N200D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACCACACTCAAACAGTTCTGA	0.502																																					p.N200D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A598G	5						.						103.0	97.0	99.0					5																	121488283		2203	4300	6503	121516182	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.598A>G	5.37:g.121488283A>G	ENSP00000296600:p.Asn200Asp	Somatic		Capture	Illumina HiSeq	Phase_I	121516182	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.318891	0.01320	.	.	ENSG00000164185	ENST00000296600	T	0.46063	0.88	4.64	0.693	0.18056	.	1.185790	0.06757	U	0.781093	T	0.27419	0.0673	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25187	-1.0139	10	0.18276	T	0.48	-2.1841	8.1692	0.31245	0.7417:0.0:0.2583:0.0	.	200	Q6S9Z5	ZN474_HUMAN	D	200	ENSP00000296600:N200D	ENSP00000296600:N200D	N	+	1	0	ZNF474	121516182	0.030000	0.19436	0.000000	0.03702	0.000000	0.00434	1.861000	0.39438	0.027000	0.15297	-0.256000	0.11100	AAC		0.502	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
SNCAIP	9627	broad.mit.edu	37	5	121786917	121786917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:121786917C>T	ENST00000261368.8	+	10	2637	c.2375C>T	c.(2374-2376)gCc>gTc	p.A792V	CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.A350V|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A839V|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.A426V|SNCAIP_ENST00000414317.2_Missense_Mutation_p.A394V|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.A732V|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A839V|CTC-210G5.1_ENST00000505546.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	792					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.A792V(1)|p.A839V(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGAAAGTTGCCACAAGTCCC	0.527																																					p.A792V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2375T	5						.						57.0	59.0	58.0					5																	121786917		2203	4300	6503	121814816	SO:0001583	missense	9627	exon10			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2375C>T	5.37:g.121786917C>T	ENSP00000261368:p.Ala792Val	Somatic		Capture	Illumina HiSeq	Phase_I	121814816	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962210	0.92791	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.22134	3.84;4.44;2.09;1.97;4.44;4.28;1.97;4.03	5.87	5.87	0.94306	.	0.051634	0.85682	D	0.000000	T	0.49830	0.1580	M	0.69823	2.125	0.54753	D	0.99998	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.978;1.0;0.999;1.0;0.998;1.0	D;D;P;D;D;D;D;D	0.87578	0.984;0.952;0.847;0.998;0.986;0.998;0.987;0.996	T	0.45687	-0.9244	10	0.87932	D	0	-21.3594	20.2192	0.98319	0.0:1.0:0.0:0.0	.	732;420;394;732;426;426;839;792	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	V	350;732;792;839;732;426;839;394	ENSP00000441681:A350V;ENSP00000422106:A732V;ENSP00000261368:A792V;ENSP00000368848:A839V;ENSP00000368851:A732V;ENSP00000368854:A426V;ENSP00000261367:A839V;ENSP00000394392:A394V	ENSP00000261367:A839V	A	+	2	0	SNCAIP	121814816	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.497000	0.81536	2.780000	0.95670	0.655000	0.94253	GCC		0.527	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
SNX2	6643	broad.mit.edu	37	5	122139298	122139298	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:122139298G>T	ENST00000379516.2	+	6	741	c.633G>T	c.(631-633)aaG>aaT	p.K211N	SNX2_ENST00000514949.1_Missense_Mutation_p.K94N|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	211	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.K211N(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		CTCCAGAAAAGAGTATAGTAG	0.318																																					p.K211N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G633T	5						.						61.0	61.0	61.0					5																	122139298		2202	4299	6501	122167197	SO:0001583	missense	6643	exon6			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.633G>T	5.37:g.122139298G>T	ENSP00000368831:p.Lys211Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122167197	NM_003100	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300631	0.60195	.	.	ENSG00000205302	ENST00000379516;ENST00000505934;ENST00000514949	T;T;T	0.55234	0.53;0.53;0.53	5.54	2.83	0.33086	Phox homologous domain (5);	0.047393	0.85682	D	0.000000	T	0.77198	0.4095	H	0.96518	3.835	0.58432	D	0.999999	D	0.61697	0.99	D	0.74348	0.983	T	0.76958	-0.2766	10	0.72032	D	0.01	-18.7569	7.6639	0.28419	0.4506:0.0:0.5494:0.0	.	211	O60749	SNX2_HUMAN	N	211;210;94	ENSP00000368831:K211N;ENSP00000422413:K210N;ENSP00000421663:K94N	ENSP00000368831:K211N	K	+	3	2	SNX2	122167197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.839000	0.39220	0.315000	0.23110	0.484000	0.47621	AAG		0.318	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
CEP120	153241	broad.mit.edu	37	5	122685653	122685653	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:122685653C>A	ENST00000306467.5	-	19	3015	c.2711G>T	c.(2710-2712)aGa>aTa	p.R904I	CEP120_ENST00000306481.6_Missense_Mutation_p.R878I|CEP120_ENST00000328236.5_Missense_Mutation_p.R904I			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	904					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R904I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CAATTCATTTCTTATATCCAA	0.373																																					p.R878I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2633T	5						.						107.0	100.0	102.0					5																	122685653		2203	4299	6502	122713552	SO:0001583	missense	153241	exon19			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2711G>T	5.37:g.122685653C>A	ENSP00000303058:p.Arg904Ile	Somatic		Capture	Illumina HiSeq	Phase_I	122713552	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431569	0.83776	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.32753	1.44;1.44;1.44	5.6	5.6	0.85130	.	0.070344	0.53938	U	0.000058	T	0.51278	0.1665	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.48714	-0.9011	10	0.62326	D	0.03	-15.0112	19.612	0.95610	0.0:1.0:0.0:0.0	.	904	Q8N960	CE120_HUMAN	I	904;904;878	ENSP00000303058:R904I;ENSP00000327504:R904I;ENSP00000307419:R878I	ENSP00000303058:R904I	R	-	2	0	CEP120	122713552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.134000	0.57990	2.632000	0.89209	0.563000	0.77884	AGA		0.373	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
CEP120	153241	broad.mit.edu	37	5	122722225	122722225	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:122722225C>A	ENST00000306467.5	-	10	1871	c.1567G>T	c.(1567-1569)Gac>Tac	p.D523Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D497Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D523Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	523					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D523Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGAAGGTGTCTTGCAGCTGA	0.318																																					p.D497Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489T	5						.						55.0	53.0	53.0					5																	122722225		2203	4300	6503	122750124	SO:0001583	missense	153241	exon10			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1567G>T	5.37:g.122722225C>A	ENSP00000303058:p.Asp523Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	122750124	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710744	0.68730	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.46	5.46	0.80206	.	0.166295	0.51477	D	0.000093	T	0.54382	0.1855	M	0.61703	1.905	0.80722	D	1	P	0.47841	0.901	P	0.46275	0.51	T	0.59873	-0.7372	10	0.87932	D	0	-23.1219	17.466	0.87632	0.0:1.0:0.0:0.0	.	523	Q8N960	CE120_HUMAN	Y	523;523;497;497	ENSP00000303058:D523Y;ENSP00000327504:D523Y;ENSP00000307419:D497Y;ENSP00000421620:D497Y	ENSP00000303058:D523Y	D	-	1	0	CEP120	122750124	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.826000	0.69293	2.724000	0.93272	0.585000	0.79938	GAC		0.318	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
CEP120	153241	broad.mit.edu	37	5	122729173	122729173	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:122729173T>C	ENST00000306467.5	-	6	935	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E	CEP120_ENST00000306481.6_Missense_Mutation_p.K185E|CEP120_ENST00000328236.5_Missense_Mutation_p.K211E|CEP120_ENST00000395431.2_Missense_Mutation_p.K211E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	211					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K211E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTGGAAGTTTCATGGTACAT	0.313																																					p.K185E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A553G	5						.						95.0	91.0	92.0					5																	122729173		1816	4076	5892	122757072	SO:0001583	missense	153241	exon6			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.631A>G	5.37:g.122729173T>C	ENSP00000303058:p.Lys211Glu	Somatic		Capture	Illumina HiSeq	Phase_I	122757072	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894496	0.52121	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.46063	2.2;2.2;2.2;0.88	5.69	5.69	0.88448	.	0.053584	0.64402	D	0.000001	T	0.52191	0.1719	L	0.54323	1.7	0.52099	D	0.99994	D	0.53462	0.96	P	0.52454	0.699	T	0.54248	-0.8322	10	0.59425	D	0.04	-27.5993	15.9428	0.79771	0.0:0.0:0.0:1.0	.	211	Q8N960	CE120_HUMAN	E	211;211;185;185;211	ENSP00000303058:K211E;ENSP00000327504:K211E;ENSP00000307419:K185E;ENSP00000421620:K185E	ENSP00000303058:K211E	K	-	1	0	CEP120	122757072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.182000	0.69389	0.482000	0.46254	AAA		0.313	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
CSNK1G3	1456	broad.mit.edu	37	5	122926143	122926143	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:122926143A>C	ENST00000361991.2	+	8	911	c.881A>C	c.(880-882)gAt>gCt	p.D294A	CSNK1G3_ENST00000395412.1_Missense_Mutation_p.D294A|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.D182A|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.D219A|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.D294A|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.D294A|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.D295A|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.D294A|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.D294A			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D294A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAA	0.264																																					p.D294A	Pancreas(187;2868 2964 4353 6297)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A881C	5						.						61.0	68.0	66.0					5																	122926143		2201	4283	6484	122954042	SO:0001583	missense	1456	exon9			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.881A>C	5.37:g.122926143A>C	ENSP00000354942:p.Asp294Ala	Somatic		Capture	Illumina HiSeq	Phase_I	122954042	NM_001044723	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	CCDS4135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.227210|4.227210	0.79576|0.79576	.|.	.|.	ENSG00000151292|ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683|ENST00000515322	T;T;T;T;T;T;T;T;T|.	0.06849|.	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.68531|0.68531	0.3011|0.3011	L|L	0.54863|0.54863	1.705|1.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.64830|.	0.994;0.994;0.972;0.966;0.994;0.988|.	D;P;D;P;P;P|.	0.67103|.	0.949;0.901;0.916;0.754;0.901;0.754|.	T|T	0.67098|0.67098	-0.5756|-0.5756	10|5	0.62326|.	D|.	0.03|.	.|.	15.0453|15.0453	0.71822|0.71822	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	219;295;182;294;294;294|.	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2|.	.;.;.;.;KC1G3_HUMAN;.|.	A|L	294;294;294;182;219;294;295;294;294|43	ENSP00000378807:D294A;ENSP00000378806:D294A;ENSP00000334735:D294A;ENSP00000421385:D182A;ENSP00000421998:D219A;ENSP00000429412:D294A;ENSP00000423838:D295A;ENSP00000354942:D294A;ENSP00000353904:D294A|.	ENSP00000334735:D294A|.	D|I	+|+	2|1	0|0	CSNK1G3|CSNK1G3	122954042|122954042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.261000|9.261000	0.95576|0.95576	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.264	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	
GRAMD3	65983	broad.mit.edu	37	5	125828609	125828609	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:125828609A>G	ENST00000285689.3	+	14	1721	c.1260A>G	c.(1258-1260)atA>atG	p.I420M	GRAMD3_ENST00000513040.1_Missense_Mutation_p.I435M|GRAMD3_ENST00000544396.1_Missense_Mutation_p.I316M|GRAMD3_ENST00000511134.1_Missense_Mutation_p.I404M|GRAMD3_ENST00000542322.1_Missense_Mutation_p.I428M|GRAMD3_ENST00000515200.1_Missense_Mutation_p.I398M|GRAMD3_ENST00000543198.1_3'UTR|RP11-517I3.1_ENST00000515808.1_RNA|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000502348.1_Missense_Mutation_p.I311M	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	420						cytoplasmic microtubule (GO:0005881)		p.I420M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATTTCAAGATACAAAATAACT	0.338																																					p.I428M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1284G	5						.						51.0	51.0	51.0					5																	125828609		2203	4300	6503	125856508	SO:0001583	missense	65983	exon15			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1260A>G	5.37:g.125828609A>G	ENSP00000285689:p.Ile420Met	Somatic		Capture	Illumina HiSeq	Phase_I	125856508	NM_001146321	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655094	0.67472	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T	0.45668	0.89;0.93;0.96;0.92;1.02;1.02;0.96	5.9	3.43	0.39272	.	0.050661	0.85682	D	0.000000	T	0.53465	0.1798	M	0.65498	2.005	0.40621	D	0.981768	D;P;D;D;D	0.59357	0.964;0.912;0.985;0.981;0.964	P;P;P;P;P	0.58077	0.832;0.768;0.787;0.621;0.832	T	0.54728	-0.8250	10	0.87932	D	0	.	8.5575	0.33489	0.6911:0.0:0.0:0.3089	.	404;316;428;435;420	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	M	435;420;398;428;316;311;404	ENSP00000426120:I435M;ENSP00000285689:I420M;ENSP00000426143:I398M;ENSP00000441876:I428M;ENSP00000444049:I316M;ENSP00000427596:I311M;ENSP00000426088:I404M	ENSP00000285689:I420M	I	+	3	3	GRAMD3	125856508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.210000	0.65214	0.442000	0.26555	0.528000	0.53228	ATA		0.338	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
PHAX	51808	broad.mit.edu	37	5	125960530	125960530	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:125960530C>A	ENST00000297540.4	+	5	1874	c.1179C>A	c.(1177-1179)atC>atA	p.I393I		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	393					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.I393I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ATTTGGACATCTTTTAAGTAC	0.388																																					p.I393I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179A	5						.						87.0	93.0	91.0					5																	125960530		2202	4300	6502	125988429	SO:0001819	synonymous_variant	51808	exon5			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1179C>A	5.37:g.125960530C>A		Somatic		Capture	Illumina HiSeq	Phase_I	125988429	NM_032177	Q9H8W1	Silent	SNP	ENST00000297540.4	37	CCDS4138.1																																																																																				0.388	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
TEX43	389320	broad.mit.edu	37	5	125971872	125971872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:125971872C>T	ENST00000357147.3	+	3	357	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		115								p.S115L(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTTTGCATTCGCCTCTCTCC	0.403																																					p.S115L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	5						.						97.0	101.0	100.0					5																	125971872		2203	4300	6503	125999771	SO:0001583	missense	389320	exon3																														ENST00000357147.3:c.344C>T	5.37:g.125971872C>T	ENSP00000349669:p.Ser115Leu	Somatic		Capture	Illumina HiSeq	Phase_I	125999771	NM_207408		Missense_Mutation	SNP	ENST00000357147.3	37	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235984	0.58886	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	4.29	0.51040	.	0.000000	0.47093	D	0.000251	T	0.49201	0.1543	L	0.29908	0.895	0.33321	D	0.567368	D	0.69078	0.997	P	0.58970	0.849	T	0.62286	-0.6886	9	0.87932	D	0	-15.4886	10.0725	0.42341	0.0:0.9034:0.0:0.0966	.	115	Q6ZNM6	CE048_HUMAN	L	115	.	ENSP00000349669:S115L	S	+	2	0	C5orf48	125999771	0.974000	0.33945	0.965000	0.40720	0.567000	0.35839	2.475000	0.45162	2.365000	0.80145	0.462000	0.41574	TCG		0.403	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1		
LMNB1	4001	broad.mit.edu	37	5	126154710	126154710	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:126154710A>C	ENST00000261366.5	+	6	1397	c.1036A>C	c.(1036-1038)Atg>Ctg	p.M346L	LMNB1_ENST00000395354.1_Missense_Mutation_p.M346L|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	346	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.M346L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGAGAGAGAGATGGCGGAAAT	0.418																																					p.M136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A406C	5						.						121.0	119.0	120.0					5																	126154710		2203	4300	6503	126182609	SO:0001583	missense	4001	exon6			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1036A>C	5.37:g.126154710A>C	ENSP00000261366:p.Met346Leu	Somatic		Capture	Illumina HiSeq	Phase_I	126182609	NM_001198557	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478600	0.44044	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.84516	-1.86;-1.86	5.74	3.35	0.38373	Filament (1);	0.224867	0.50627	D	0.000105	T	0.61664	0.2365	N	0.02751	-0.505	0.43137	D	0.994889	B	0.02656	0.0	B	0.06405	0.002	T	0.58555	-0.7616	10	0.02654	T	1	.	10.6729	0.45768	0.8102:0.0:0.1898:0.0	.	346	P20700	LMNB1_HUMAN	L	346	ENSP00000261366:M346L;ENSP00000378761:M346L	ENSP00000261366:M346L	M	+	1	0	LMNB1	126182609	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.272000	0.43373	1.118000	0.41863	0.460000	0.39030	ATG		0.418	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573	
MEGF10	84466	broad.mit.edu	37	5	126771138	126771138	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:126771138T>G	ENST00000274473.6	+	17	2328	c.2061T>G	c.(2059-2061)tcT>tcG	p.S687S	MEGF10_ENST00000503335.2_Silent_p.S687S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.S687S(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTGACAGATCTTGTCAGTGTT	0.418																																					p.S687S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2061G	5						.						119.0	98.0	105.0					5																	126771138		2203	4300	6503	126799037	SO:0001819	synonymous_variant	84466	exon17			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2061T>G	5.37:g.126771138T>G		Somatic		Capture	Illumina HiSeq	Phase_I	126799037	NM_032446	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.418	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
CTXN3	613212	broad.mit.edu	37	5	126993319	126993319	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:126993319C>A	ENST00000379445.3	+	3	657	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.L36M	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	36						integral component of membrane (GO:0016021)		p.L36M(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TTTTGTGATTCTGTTGTTTAT	0.478																																					p.L36M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106A	5						.						164.0	144.0	151.0					5																	126993319		2203	4300	6503	127021218	SO:0001583	missense	613212	exon3			AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.106C>A	5.37:g.126993319C>A	ENSP00000368758:p.Leu36Met	Somatic		Capture	Illumina HiSeq	Phase_I	127021218	NM_001127385	B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731764	0.48939	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.36520	1.25;1.25	4.52	0.866	0.19079	.	0.369485	0.28182	N	0.016297	T	0.28067	0.0692	.	.	.	0.42593	D	0.993256	P	0.41710	0.76	B	0.41440	0.357	T	0.02991	-1.1085	9	0.46703	T	0.11	-2.2107	5.2113	0.15318	0.1258:0.3106:0.0:0.5636	.	36	Q4LDR2	CTXN3_HUMAN	M	36	ENSP00000368758:L36M;ENSP00000378732:L36M	ENSP00000368758:L36M	L	+	1	2	CTXN3	127021218	0.147000	0.22687	0.996000	0.52242	0.974000	0.67602	0.110000	0.15437	-0.066000	0.12998	-0.254000	0.11334	CTG		0.478	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841	
FBN2	2201	broad.mit.edu	37	5	127611839	127611839	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:127611839G>A	ENST00000508053.1	-	65	8459	c.7485C>T	c.(7483-7485)tgC>tgT	p.C2495C	FBN2_ENST00000262464.4_Silent_p.C2495C			P35556	FBN2_HUMAN	fibrillin 2	2495	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2495C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGACTGGGAGCATTCATCAA	0.423																																					p.C2495C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7485T	5						.						159.0	139.0	146.0					5																	127611839		2203	4300	6503	127639738	SO:0001819	synonymous_variant	2201	exon59			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7485C>T	5.37:g.127611839G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127639738	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127671155	127671155	+	Missense_Mutation	SNP	G	G	A	rs200481467		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:127671155G>A	ENST00000508053.1	-	35	4813	c.3839C>T	c.(3838-3840)tCg>tTg	p.S1280L	FBN2_ENST00000507835.1_Missense_Mutation_p.S130L|FBN2_ENST00000508989.1_Missense_Mutation_p.S1247L|FBN2_ENST00000262464.4_Missense_Mutation_p.S1280L			P35556	FBN2_HUMAN	fibrillin 2	1280	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1280L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGCACACGATCTCCCATC	0.433																																					p.S1280L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3839T	5						.	G	LEU/SER	0,4406		0,0,2203	164.0	157.0	159.0		3839	5.2	0.3	5		159	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN2	NM_001999.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1280/2913	127671155	1,13005	2203	4300	6503	127699054	SO:0001583	missense	2201	exon29			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3839C>T	5.37:g.127671155G>A	ENSP00000424571:p.Ser1280Leu	Somatic		Capture	Illumina HiSeq	Phase_I	127699054	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045433	0.55110	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.97066	-4.23;-4.23;-3.0;-4.23	5.24	5.24	0.73138	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.113243	0.38663	N	0.001612	D	0.96194	0.8759	M	0.62723	1.935	0.36658	D	0.877762	P;P	0.51933	0.949;0.574	B;B	0.42422	0.387;0.137	D	0.98356	1.0546	10	0.66056	D	0.02	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	1247;1280	D6RJI3;P35556	.;FBN2_HUMAN	L	1280;1280;130;1247	ENSP00000262464:S1280L;ENSP00000424571:S1280L;ENSP00000426839:S130L;ENSP00000425596:S1247L	ENSP00000262464:S1280L	S	-	2	0	FBN2	127699054	0.937000	0.31787	0.345000	0.25642	0.828000	0.46876	2.434000	0.44802	2.884000	0.98904	0.655000	0.94253	TCG		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127866386	127866386	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:127866386G>A	ENST00000508053.1	-	9	1312	c.338C>T	c.(337-339)cCg>cTg	p.P113L	FBN2_ENST00000508989.1_Intron|FBN2_ENST00000262464.4_Splice_Site_p.P113L			P35556	FBN2_HUMAN	fibrillin 2	113	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P113L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTACAAATCGCTGTAGAAAG	0.323																																					p.P113L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C338T	5						.						86.0	78.0	81.0					5																	127866386		2203	4300	6503	127894285	SO:0001630	splice_region_variant	2201	exon3			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.338-1C>T	5.37:g.127866386G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127894285	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023489	0.75390	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000502468	D;D;T	0.87491	-2.26;-2.26;0.12	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	D	0.93426	0.7903	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93786	0.7088	10	0.72032	D	0.01	.	18.3138	0.90210	0.0:0.0:1.0:0.0	.	113;113	E9PHW4;P35556	.;FBN2_HUMAN	L	113	ENSP00000262464:P113L;ENSP00000424571:P113L;ENSP00000424753:P113L	ENSP00000262464:P113L	P	-	2	0	FBN2	127894285	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.127000	0.94417	2.836000	0.97738	0.655000	0.94253	CCG		0.323	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Missense_Mutation
ADAMTS19	171019	broad.mit.edu	37	5	128990051	128990051	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:128990051T>G	ENST00000274487.4	+	14	2356	c.2211T>G	c.(2209-2211)ctT>ctG	p.L737L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	737	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L737L(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCCTATTCTTCTATCAGAAA	0.368																																					p.L737L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2211G	5						.						95.0	99.0	97.0					5																	128990051		2203	4300	6503	129017950	SO:0001819	synonymous_variant	171019	exon14			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2211T>G	5.37:g.128990051T>G		Somatic		Capture	Illumina HiSeq	Phase_I	129017950	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ADAMTS19	171019	broad.mit.edu	37	5	129070782	129070782	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:129070782C>T	ENST00000274487.4	+	22	3597	c.3452C>T	c.(3451-3453)aCc>aTc	p.T1151I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1151						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1151I(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATGTAAATACCATAACATCA	0.343																																					p.T1151I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3452T	5						.						92.0	96.0	95.0					5																	129070782		2203	4300	6503	129098681	SO:0001583	missense	171019	exon22			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3452C>T	5.37:g.129070782C>T	ENSP00000274487:p.Thr1151Ile	Somatic		Capture	Illumina HiSeq	Phase_I	129098681	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267550	0.80469	.	.	ENSG00000145808	ENST00000274487	T	0.65364	-0.15	4.41	4.41	0.53225	.	0.088102	0.45867	D	0.000338	T	0.67325	0.2881	N	0.24115	0.695	0.54753	D	0.999988	D	0.89917	1.0	D	0.74348	0.983	T	0.65405	-0.6176	9	.	.	.	.	18.3087	0.90192	0.0:1.0:0.0:0.0	.	1151	Q8TE59	ATS19_HUMAN	I	1151	ENSP00000274487:T1151I	.	T	+	2	0	ADAMTS19	129098681	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	6.802000	0.75175	2.741000	0.93983	0.585000	0.79938	ACC		0.343	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
CHSY3	337876	broad.mit.edu	37	5	129521032	129521032	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:129521032G>T	ENST00000305031.4	+	3	2555	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	733					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.D733Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACGATGTAGAGACAATACAAT	0.418																																					p.D733Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2197T	5						.						117.0	111.0	113.0					5																	129521032		2203	4300	6503	129548931	SO:0001583	missense	337876	exon3			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2197G>T	5.37:g.129521032G>T	ENSP00000302629:p.Asp733Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	129548931	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762342	0.31228	.	.	ENSG00000198108	ENST00000305031	T	0.15139	2.45	4.33	4.33	0.51752	.	0.000000	0.49916	D	0.000126	T	0.18923	0.0454	L	0.34521	1.04	0.51482	D	0.999927	B	0.34181	0.44	B	0.41135	0.348	T	0.05209	-1.0899	9	.	.	.	-2.7262	17.7523	0.88438	0.0:0.0:1.0:0.0	.	733	Q70JA7	CHSS3_HUMAN	Y	733	ENSP00000302629:D733Y	.	D	+	1	0	CHSY3	129548931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.103000	0.64578	2.686000	0.91538	0.650000	0.86243	GAC		0.418	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
RAPGEF6	51735	broad.mit.edu	37	5	130799875	130799875	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:130799875G>T	ENST00000509018.1	-	18	2544	c.2339C>A	c.(2338-2340)gCt>gAt	p.A780D	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A780D|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A780D|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A830D|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A785D|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.A780D|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A495D|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A780D	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	780	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.A780D(1)|p.A785D(1)|p.A830D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCATGAACAGCATGAAAAAC	0.388																																					p.A780D	Melanoma(168;435 1955 13113 13877 23213)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2339A	5						.						107.0	94.0	98.0					5																	130799875		2203	4300	6503	130827774	SO:0001583	missense	51735	exon18			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2339C>A	5.37:g.130799875G>T	ENSP00000421684:p.Ala780Asp	Somatic		Capture	Illumina HiSeq	Phase_I	130827774	NM_001164389	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929494	0.92389	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.64	5.64	0.86602	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.215770	0.47852	D	0.000212	T	0.49201	0.1543	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;P;D	0.67145	0.963;0.996;0.975;0.958;0.988;0.954;0.991	P;D;P;P;D;P;D	0.68483	0.864;0.958;0.743;0.783;0.93;0.786;0.934	T	0.49466	-0.8937	10	0.87932	D	0	.	19.6995	0.96047	0.0:0.0:1.0:0.0	.	780;780;780;495;830;785;780	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	D	780;785;780;780;785;495;780;780;830	ENSP00000421684:A780D;ENSP00000309298:A785D;ENSP00000426081:A780D;ENSP00000296859:A780D;ENSP00000426910:A495D;ENSP00000311419:A780D;ENSP00000425389:A780D;ENSP00000426948:A830D	ENSP00000426948:A830D	A	-	2	0	RAPGEF6;FNIP1	130827774	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.214000	0.65236	2.652000	0.90054	0.650000	0.86243	GCT		0.388	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
PDLIM4	8572	broad.mit.edu	37	5	131607758	131607758	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:131607758G>A	ENST00000253754.3	+	7	893	c.829G>A	c.(829-831)Gag>Aag	p.E277K	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Silent_p.P237P	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	277	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)	p.E277K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACCATCCCGAGTGCTTCAT	0.612																																					p.E277K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	5						.						153.0	111.0	125.0					5																	131607758		2203	4300	6503	131635657	SO:0001583	missense	8572	exon7			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.829G>A	5.37:g.131607758G>A	ENSP00000253754:p.Glu277Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131635657	NM_003687	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281153	0.95489	.	.	ENSG00000131435	ENST00000253754	D	0.88354	-2.37	5.05	4.16	0.48862	Zinc finger, LIM-type (5);	0.238186	0.41194	D	0.000929	D	0.92364	0.7577	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.56163	0.793	D	0.92857	0.6302	9	0.66056	D	0.02	-17.3093	15.2133	0.73244	0.0:0.1416:0.8584:0.0	.	277	P50479	PDLI4_HUMAN	K	277	ENSP00000253754:E277K	ENSP00000253754:E277K	E	+	1	0	PDLIM4	131635657	1.000000	0.71417	0.797000	0.32132	0.992000	0.81027	7.968000	0.87980	1.068000	0.40764	0.655000	0.94253	GAG		0.612	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687	
RAD50	10111	broad.mit.edu	37	5	131944842	131944842	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:131944842C>A	ENST00000265335.6	+	18	3250	c.2863C>A	c.(2863-2865)Cat>Aat	p.H955N	RAD50_ENST00000378823.3_Missense_Mutation_p.H816N			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	955					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.H816N(1)|p.H955N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAAAATATTCATGGCTATAT	0.269								Homologous recombination																													p.H955N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2863A	5						.						30.0	35.0	33.0					5																	131944842		2090	4243	6333	131972741	SO:0001583	missense	10111	exon18			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2863C>A	5.37:g.131944842C>A	ENSP00000265335:p.His955Asn	Somatic		Capture	Illumina HiSeq	Phase_I	131972741	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	2.289	-0.362947	0.05103	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.16597	2.33;2.33	5.18	4.11	0.48088	.	0.422650	0.27331	N	0.019847	T	0.06188	0.0160	N	0.04508	-0.205	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	10	0.15952	T	0.53	-11.4402	5.1735	0.15122	0.3216:0.5398:0.0:0.1385	.	955	Q92878	RAD50_HUMAN	N	816;955	ENSP00000368100:H816N;ENSP00000265335:H955N	ENSP00000265335:H955N	H	+	1	0	RAD50	131972741	0.014000	0.17966	0.997000	0.53966	0.983000	0.72400	0.133000	0.15912	2.423000	0.82170	0.557000	0.71058	CAT		0.269	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
IL4	3565	broad.mit.edu	37	5	132015484	132015484	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:132015484C>T	ENST00000231449.2	+	3	327	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.R72C	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	88					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)	p.R88C(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GAAGGACACTCGCTGCCTGGG	0.577																																					p.R88C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262T	5						.						79.0	78.0	78.0					5																	132015484		2203	4300	6503	132043383	SO:0001583	missense	3565	exon3			M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.262C>T	5.37:g.132015484C>T	ENSP00000231449:p.Arg88Cys	Somatic		Capture	Illumina HiSeq	Phase_I	132043383	NM_000589	Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027857	0.35797	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.39997	1.05;1.05	1.76	0.772	0.18510	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.152966	0.31145	N	0.008177	T	0.36248	0.0960	N	0.22421	0.69	0.09310	N	1	D;D	0.63880	0.965;0.993	P;P	0.56216	0.794;0.794	T	0.18085	-1.0348	10	0.72032	D	0.01	.	5.6241	0.17473	0.3216:0.6784:0.0:0.0	.	72;88	Q5FC01;P05112	.;IL4_HUMAN	C	88;72	ENSP00000231449:R88C;ENSP00000325190:R72C	ENSP00000231449:R88C	R	+	1	0	IL4	132043383	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.619000	0.24388	-0.002000	0.14469	-0.175000	0.13238	CGC		0.577	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589	
KIF3A	11127	broad.mit.edu	37	5	132037825	132037825	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:132037825C>T	ENST00000378746.4	-	13	1975	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R589Q|KIF3A_ENST00000403231.1_Missense_Mutation_p.R613Q	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	586					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.R589Q(1)|p.R586Q(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCTGAAGTCGAAGCTCCCG	0.418																																					p.R586Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1757A	5						.						79.0	80.0	80.0					5																	132037825		2203	4300	6503	132065724	SO:0001583	missense	11127	exon13			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1757G>A	5.37:g.132037825C>T	ENSP00000368020:p.Arg586Gln	Somatic		Capture	Illumina HiSeq	Phase_I	132065724	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006719	0.74932	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.09255	3.0;3.0;3.0	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	N	0.04063	-0.285	0.80722	D	1	D;D;B;D	0.64830	0.994;0.994;0.029;0.994	D;D;B;P	0.64042	0.921;0.921;0.004;0.885	T	0.42241	-0.9463	10	0.35671	T	0.21	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	613;613;586;612	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	Q	586;589;613;613	ENSP00000368020:R586Q;ENSP00000368009:R589Q;ENSP00000385808:R613Q	ENSP00000368009:R589Q	R	-	2	0	KIF3A	132065724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CGA		0.418	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
SHROOM1	134549	broad.mit.edu	37	5	132160744	132160744	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:132160744T>G	ENST00000378679.3	-	5	1804	c.1000A>C	c.(1000-1002)Acc>Ccc	p.T334P	SHROOM1_ENST00000319854.3_Missense_Mutation_p.T334P|SHROOM1_ENST00000378676.1_Missense_Mutation_p.T334P|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	334					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.T334P(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGGGGGTTTCTGCTCCT	0.527																																					p.T334P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1000C	5						.						137.0	141.0	140.0					5																	132160744		2203	4300	6503	132188643	SO:0001583	missense	134549	exon5			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1000A>C	5.37:g.132160744T>G	ENSP00000367950:p.Thr334Pro	Somatic		Capture	Illumina HiSeq	Phase_I	132188643	NM_001172700	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629521	0.28978	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.20332	2.08;2.08;2.08	4.49	-0.681	0.11342	.	0.868843	0.10173	N	0.706877	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999993	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.28933	-1.0028	10	0.37606	T	0.19	-0.0931	8.124	0.30988	0.1266:0.0:0.6172:0.2562	.	334;334	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	P	334	ENSP00000367950:T334P;ENSP00000324245:T334P;ENSP00000367947:T334P	ENSP00000324245:T334P	T	-	1	0	SHROOM1	132188643	0.006000	0.16342	0.145000	0.22337	0.851000	0.48451	-0.836000	0.04382	-0.242000	0.09667	0.459000	0.35465	ACC		0.527	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	
PPP2CA	5515	broad.mit.edu	37	5	133536763	133536763	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:133536763G>T	ENST00000481195.1	-	4	769	c.489C>A	c.(487-489)atC>atA	p.I163I	PPP2CA_ENST00000231504.5_5'Flank|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	163					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.I163I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	GTAGACAGAAGATCTGAAAAG	0.433																																					p.I163I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489A	5						.						95.0	94.0	94.0					5																	133536763		2203	4300	6503	133564662	SO:0001819	synonymous_variant	5515	exon4				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.489C>A	5.37:g.133536763G>T		Somatic		Capture	Illumina HiSeq	Phase_I	133564662	NM_002715	P05323|P13197	Silent	SNP	ENST00000481195.1	37	CCDS4173.1																																																																																				0.433	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715	
SEC24A	10802	broad.mit.edu	37	5	133996964	133996964	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:133996964A>C	ENST00000398844.2	+	2	541	c.253A>C	c.(253-255)Act>Cct	p.T85P	SEC24A_ENST00000322887.4_Missense_Mutation_p.T85P	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.T85P(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTGGGCAGACTCTTAATAG	0.502																																					p.T85P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A253C	5						.						163.0	162.0	162.0					5																	133996964		1940	4159	6099	134024863	SO:0001583	missense	10802	exon2			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.253A>C	5.37:g.133996964A>C	ENSP00000381823:p.Thr85Pro	Somatic		Capture	Illumina HiSeq	Phase_I	134024863	NM_021982	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056843	0.76074	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97186	-4.28;-4.28	5.78	3.34	0.38264	.	0.567557	0.13112	U	0.412932	D	0.94902	0.8352	M	0.61703	1.905	0.52099	D	0.999942	P	0.41366	0.747	B	0.38842	0.283	D	0.89741	0.3933	10	0.21540	T	0.41	-6.6974	10.3955	0.44198	0.8659:0.0:0.1341:0.0	.	85	O95486	SC24A_HUMAN	P	85	ENSP00000381823:T85P;ENSP00000321749:T85P	ENSP00000321749:T85P	T	+	1	0	SEC24A	134024863	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	2.651000	0.46674	0.428000	0.26173	0.533000	0.62120	ACT		0.502	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		
SEC24A	10802	broad.mit.edu	37	5	134007549	134007549	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:134007549G>A	ENST00000398844.2	+	4	1078	c.790G>A	c.(790-792)Gac>Aac	p.D264N	SEC24A_ENST00000322887.4_Missense_Mutation_p.D264N	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.D264N(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAGTTACGACGAGATTGA	0.308																																					p.D264N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	5						.						138.0	123.0	128.0					5																	134007549		1847	4094	5941	134035448	SO:0001583	missense	10802	exon4			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.790G>A	5.37:g.134007549G>A	ENSP00000381823:p.Asp264Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134035448	NM_021982	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468906	0.84533	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.46451	1.16;0.87	5.28	5.28	0.74379	.	0.437967	0.26411	N	0.024539	T	0.53916	0.1826	L	0.48642	1.525	0.46241	D	0.998942	D	0.89917	1.0	P	0.60886	0.88	T	0.44329	-0.9335	10	0.27785	T	0.31	-17.082	17.0754	0.86585	0.0:0.0:1.0:0.0	.	264	O95486	SC24A_HUMAN	N	264	ENSP00000381823:D264N;ENSP00000321749:D264N	ENSP00000321749:D264N	D	+	1	0	SEC24A	134035448	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.029000	0.70895	2.464000	0.83262	0.591000	0.81541	GAC		0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		
SEC24A	10802	broad.mit.edu	37	5	134041031	134041031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:134041031C>T	ENST00000398844.2	+	17	2743	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	819					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.R819C(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAAGAATTCGTGTTCATAC	0.368																																					p.R819C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2455T	5						.						236.0	211.0	219.0					5																	134041031		1877	4110	5987	134068930	SO:0001583	missense	10802	exon17			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2455C>T	5.37:g.134041031C>T	ENSP00000381823:p.Arg819Cys	Somatic		Capture	Illumina HiSeq	Phase_I	134068930	NM_021982	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201535	0.94997	.	.	ENSG00000113615	ENST00000398844	D	0.90504	-2.68	5.98	5.98	0.97165	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.97247	0.9100	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97641	1.0148	10	0.87932	D	0	-16.2872	20.4561	0.99145	0.0:1.0:0.0:0.0	.	583;819	B4E205;O95486	.;SC24A_HUMAN	C	819	ENSP00000381823:R819C	ENSP00000381823:R819C	R	+	1	0	SEC24A	134068930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.847000	0.97988	0.591000	0.81541	CGT		0.368	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		
DDX46	9879	broad.mit.edu	37	5	134102657	134102657	+	Missense_Mutation	SNP	G	G	A	rs188688500		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:134102657G>A	ENST00000354283.4	+	3	392	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	DDX46_ENST00000452510.2_Missense_Mutation_p.R86Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	86	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R86Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGATCTCGAAGTAGAGAC	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16803	0.0		0.0	False		,,,				2504	0.0				p.R86Q	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	5						.						47.0	55.0	52.0					5																	134102657		2203	4300	6503	134130556	SO:0001583	missense	9879	exon3				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.257G>A	5.37:g.134102657G>A	ENSP00000346236:p.Arg86Gln	Somatic		Capture	Illumina HiSeq	Phase_I	134130556	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.22	3.333321	0.60853	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.51817	0.69;0.69	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.84948	2.725	0.58432	D	0.999999	B	0.25105	0.118	B	0.18871	0.023	T	0.49661	-0.8916	10	0.14252	T	0.57	-6.5749	13.8629	0.63571	0.073:0.0:0.927:0.0	.	86	Q7L014	DDX46_HUMAN	Q	86	ENSP00000416534:R86Q;ENSP00000346236:R86Q	ENSP00000346236:R86Q	R	+	2	0	DDX46	134130556	1.000000	0.71417	0.961000	0.40146	0.993000	0.82548	8.075000	0.89502	1.261000	0.44149	0.561000	0.74099	CGA		0.473	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
DDX46	9879	broad.mit.edu	37	5	134113269	134113269	+	Missense_Mutation	SNP	G	G	A	rs10447293		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:134113269G>A	ENST00000354283.4	+	6	754	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	DDX46_ENST00000452510.2_Missense_Mutation_p.E207K			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	207	Poly-Asp.		E -> Q (in dbSNP:rs10447293).		mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E207K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTAGATGACGAAGATGATCC	0.393																																					p.E207K	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G619A	5						.						121.0	123.0	122.0					5																	134113269		2203	4300	6503	134141168	SO:0001583	missense	9879	exon6				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.619G>A	5.37:g.134113269G>A	ENSP00000346236:p.Glu207Lys	Somatic		Capture	Illumina HiSeq	Phase_I	134141168	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739868	0.69304	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.42131	0.98;0.98	5.8	5.8	0.92144	.	0.298001	0.41194	D	0.000939	T	0.43010	0.1228	L	0.50333	1.59	0.51767	D	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.42905	T	0.14	-26.9649	20.0545	0.97645	0.0:0.0:1.0:0.0	.	207	Q7L014	DDX46_HUMAN	K	207	ENSP00000416534:E207K;ENSP00000346236:E207K	ENSP00000346236:E207K	E	+	1	0	DDX46	134141168	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.809000	0.86057	2.748000	0.94277	0.655000	0.94253	GAA		0.393	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
CATSPER3	347732	broad.mit.edu	37	5	134305691	134305691	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:134305691T>G	ENST00000282611.6	+	2	247	c.161T>G	c.(160-162)aTa>aGa	p.I54R	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	54					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.I54R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTTTAAGATAATTATGATT	0.403																																					p.I54R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T161G	5						.						216.0	196.0	203.0					5																	134305691		2203	4300	6503	134333590	SO:0001583	missense	347732	exon2			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.161T>G	5.37:g.134305691T>G	ENSP00000282611:p.Ile54Arg	Somatic		Capture	Illumina HiSeq	Phase_I	134333590	NM_178019	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676293	0.47886	.	.	ENSG00000152705	ENST00000282611	D	0.97480	-4.4	5.53	4.37	0.52481	.	0.397445	0.22100	N	0.064632	D	0.93739	0.7999	L	0.29908	0.895	0.09310	N	0.999999	P	0.44578	0.838	P	0.44990	0.466	D	0.87868	0.2669	10	0.40728	T	0.16	-8.2936	7.308	0.26459	0.0:0.1711:0.0:0.8289	.	54	Q86XQ3	CTSR3_HUMAN	R	54	ENSP00000282611:I54R	ENSP00000282611:I54R	I	+	2	0	CATSPER3	134333590	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	1.108000	0.31123	1.062000	0.40625	0.456000	0.33151	ATA		0.403	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019	
TGFBI	7045	broad.mit.edu	37	5	135388645	135388645	+	Silent	SNP	C	C	T	rs373071121		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:135388645C>T	ENST00000442011.2	+	8	1124	c.963C>T	c.(961-963)atC>atT	p.I321I	TGFBI_ENST00000305126.8_Silent_p.I321I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	321	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.I321I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGAAGCCATCGTTGCGGGGC	0.557																																					p.I321I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963T	5						.	C		0,4278		0,0,2139	72.0	80.0	77.0		963	-11.3	0.0	5		77	1,8497		0,1,4248	no	coding-synonymous	TGFBI	NM_000358.2		0,1,6387	TT,TC,CC		0.0118,0.0,0.0078		321/684	135388645	1,12775	2139	4249	6388	135416544	SO:0001819	synonymous_variant	7045	exon8			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.963C>T	5.37:g.135388645C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135416544	NM_000358	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511645	0.04200	0.0	1.18E-4	ENSG00000120708	ENST00000514554	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79042	-0.1965	4	.	.	.	-22.7169	19.1955	0.93686	0.0:0.2994:0.0:0.7006	.	.	.	.	C	39	.	.	R	+	1	0	TGFBI	135416544	0.108000	0.22018	0.001000	0.08648	0.177000	0.22998	-0.468000	0.06656	-3.119000	0.00239	-1.553000	0.00894	CGT		0.557	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		
SMAD5	4090	broad.mit.edu	37	5	135496780	135496780	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:135496780T>C	ENST00000545279.1	+	4	999	c.639T>C	c.(637-639)agT>agC	p.S213S	SMAD5_ENST00000545620.1_Silent_p.S213S|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	213					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)	p.S213S(1)		central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCAGGAAGTCCATTTCAGC	0.443																																					p.S213S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T639C	5						.						112.0	112.0	112.0					5																	135496780		1851	4103	5954	135524679	SO:0001819	synonymous_variant	4090	exon5			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.639T>C	5.37:g.135496780T>C		Somatic		Capture	Illumina HiSeq	Phase_I	135524679	NM_001001419	O14688|Q15798|Q9UQA1	Silent	SNP	ENST00000545279.1	37		.	.	.	.	.	.	.	.	.	.	T	9.136	1.012735	0.19277	.	.	ENSG00000113658	ENST00000507637	D	0.93488	-3.23	5.59	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94002	0.7276	7	0.72032	D	0.01	.	8.2941	0.31976	0.0:0.1483:0.0:0.8517	.	.	.	.	P	36	ENSP00000427474:S36P	ENSP00000427474:S36P	S	+	1	0	SMAD5	135524679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.007000	0.40883	2.114000	0.64651	0.528000	0.53228	TCC		0.443	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903	
TRPC7	57113	broad.mit.edu	37	5	135587449	135587449	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:135587449G>A	ENST00000513104.1	-	6	1749	c.1467C>T	c.(1465-1467)cgC>cgT	p.R489R	TRPC7_ENST00000426057.2_Silent_p.R373R|TRPC7_ENST00000355180.3_Silent_p.R428R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	489					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R489R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCCATGAAGCGTGCTGTGA	0.597																																					p.R489R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1467T	5						.						62.0	69.0	67.0					5																	135587449		2129	4235	6364	135615348	SO:0001819	synonymous_variant	57113	exon6			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1467C>T	5.37:g.135587449G>A		Somatic		Capture	Illumina HiSeq	Phase_I	135615348	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973136	0.18736	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	4.91	1.0	0.19881	.	.	.	.	.	T	0.45856	0.1363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26573	-1.0099	4	.	.	.	-16.5507	3.8802	0.09074	0.1149:0.4845:0.265:0.1356	.	.	.	.	F	373;428;434	.	.	L	-	1	0	TRPC7	135615348	0.976000	0.34144	0.969000	0.41365	0.904000	0.53231	0.182000	0.16900	0.258000	0.21686	-0.929000	0.02709	CTT		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
TRPC7	57113	broad.mit.edu	37	5	135692834	135692834	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:135692834G>T	ENST00000513104.1	-	2	524	c.242C>A	c.(241-243)gCt>gAt	p.A81D	TRPC7_ENST00000426057.2_Missense_Mutation_p.A81D|TRPC7_ENST00000355180.3_Missense_Mutation_p.A81D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	81					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A81D(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCTGCAGAGCGTTCTGCCC	0.607																																					p.A81D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C242A	5						.						80.0	89.0	86.0					5																	135692834		2199	4299	6498	135720733	SO:0001583	missense	57113	exon2			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.242C>A	5.37:g.135692834G>T	ENSP00000426070:p.Ala81Asp	Somatic		Capture	Illumina HiSeq	Phase_I	135720733	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497386	0.85069	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.70399	-0.48;-0.48;-0.48	5.0	5.0	0.66597	Ankyrin repeat-containing domain (3);	0.050638	0.85682	D	0.000000	D	0.90380	0.6989	H	0.97962	4.115	0.46113	D	0.998876	P;D;D;D	0.89917	0.762;1.0;0.998;0.998	B;D;D;D	0.80764	0.378;0.983;0.994;0.986	D	0.93874	0.7165	10	0.87932	D	0	-15.5777	18.5076	0.90902	0.0:0.0:1.0:0.0	.	81;81;81;81	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	D	81	ENSP00000347312:A81D;ENSP00000441628:A81D;ENSP00000426070:A81D	ENSP00000265193:A81D	A	-	2	0	TRPC7	135720733	1.000000	0.71417	0.580000	0.28601	0.975000	0.68041	9.657000	0.98554	2.608000	0.88229	0.561000	0.74099	GCT		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
KLHL3	26249	broad.mit.edu	37	5	137013247	137013247	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137013247G>T	ENST00000309755.4	-	6	1066	c.623C>A	c.(622-624)tCt>tAt	p.S208Y	KLHL3_ENST00000508657.1_Missense_Mutation_p.S176Y|KLHL3_ENST00000394937.3_Missense_Mutation_p.S208Y|KLHL3_ENST00000541417.1_Missense_Mutation_p.S88Y|KLHL3_ENST00000506491.1_Missense_Mutation_p.S126Y	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	208	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.S208Y(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTCTTCTGAAGAAACGGTCAG	0.493																																					p.S208Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623A	5						.						124.0	118.0	120.0					5																	137013247		2203	4300	6503	137041146	SO:0001583	missense	26249	exon6			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.623C>A	5.37:g.137013247G>T	ENSP00000312397:p.Ser208Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	137041146	NM_017415	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282866	0.80692	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.54	4.54	0.55810	BTB/Kelch-associated (2);	0.061398	0.64402	D	0.000002	T	0.79627	0.4478	M	0.81942	2.565	0.58432	D	0.999997	P;P;D	0.60160	0.844;0.953;0.987	P;P;D	0.65323	0.56;0.722;0.934	T	0.82051	-0.0649	10	0.87932	D	0	.	11.3457	0.49559	0.0838:0.0:0.9162:0.0	.	168;208;208	D6RH21;Q9UH77;Q8N4I8	.;KLHL3_HUMAN;.	Y	126;176;208;88;168;208	ENSP00000424828:S126Y;ENSP00000422099:S176Y;ENSP00000312397:S208Y;ENSP00000440319:S88Y;ENSP00000426173:S168Y;ENSP00000378395:S208Y	ENSP00000312397:S208Y	S	-	2	0	KLHL3	137041146	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.306000	0.78905	2.513000	0.84729	0.557000	0.71058	TCT		0.493	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2		
PKD2L2	27039	broad.mit.edu	37	5	137244497	137244497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137244497C>A	ENST00000508883.1	+	8	1216	c.1190C>A	c.(1189-1191)tCa>tAa	p.S397*	PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.S397*|PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.S375*|PKD2L2_ENST00000350250.4_Nonsense_Mutation_p.S363*			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	397					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S397*(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTCAGCTGTCATCAACCTTG	0.308																																					p.S397X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1190A	5						.						99.0	88.0	92.0					5																	137244497		1827	4079	5906	137272396	SO:0001587	stop_gained	27039	exon8			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1190C>A	5.37:g.137244497C>A	ENSP00000424725:p.Ser397*	Somatic		Capture	Illumina HiSeq	Phase_I	137272396	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Nonsense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	C	37	6.144460	0.97320	.	.	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	.	.	.	5.82	5.82	0.92795	.	0.000000	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4159	19.688	0.95987	0.0:1.0:0.0:0.0	.	.	.	.	X	363;375;397;397	.	ENSP00000290431:S397X	S	+	2	0	PKD2L2	137272396	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.786000	0.85741	2.756000	0.94617	0.561000	0.74099	TCA		0.308	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
FAM13B	51306	broad.mit.edu	37	5	137284652	137284652	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137284652C>A	ENST00000033079.3	-	17	2537	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	FAM13B_ENST00000420893.2_Missense_Mutation_p.D696Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.D600Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	696					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D696Y(1)		endometrium(4)|kidney(2)|lung(5)	11						ACCTTGATATCTTCTGGAAGA	0.358																																					p.D696Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2086T	5						.						102.0	103.0	103.0					5																	137284652		2203	4300	6503	137312551	SO:0001583	missense	51306	exon17			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2086G>T	5.37:g.137284652C>A	ENSP00000033079:p.Asp696Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	137312551	NM_001101800	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881365	0.72294	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.28454	2.75;1.61;2.78	5.02	5.02	0.67125	.	0.250126	0.40064	N	0.001186	T	0.51363	0.1670	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.73380	0.971;0.98;0.906	T	0.53308	-0.8457	10	0.87932	D	0	-15.2743	11.8717	0.52523	0.0:0.9188:0.0:0.0812	.	600;696;696	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	Y	696;600;696	ENSP00000033079:D696Y;ENSP00000394669:D600Y;ENSP00000388521:D696Y	ENSP00000033079:D696Y	D	-	1	0	FAM13B	137312551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.709000	0.68384	2.503000	0.84419	0.644000	0.83932	GAT		0.358	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
WNT8A	7478	broad.mit.edu	37	5	137426386	137426386	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137426386C>T	ENST00000398754.1	+	6	685	c.680C>T	c.(679-681)gCt>gTt	p.A227V	WNT8A_ENST00000506684.1_Missense_Mutation_p.A245V	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	227					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A227V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGCTGAGAGCTGGGAACAGC	0.557																																					p.A227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	5						.						44.0	49.0	47.0					5																	137426386		1953	4146	6099	137454285	SO:0001583	missense	7478	exon6			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.680C>T	5.37:g.137426386C>T	ENSP00000381739:p.Ala227Val	Somatic		Capture	Illumina HiSeq	Phase_I	137454285	NM_058244	Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764307	0.69878	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76186	-1.0;-1.0;-1.0	5.09	5.09	0.68999	.	0.402200	0.29205	N	0.012830	T	0.78233	0.4251	L	0.43598	1.365	0.58432	D	0.999996	P;B;D	0.53462	0.736;0.167;0.96	B;B;P	0.54100	0.314;0.168;0.742	T	0.78036	-0.2361	10	0.45353	T	0.12	.	18.6905	0.91581	0.0:1.0:0.0:0.0	.	245;245;227	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	V	245;245;227	ENSP00000426653:A245V;ENSP00000424809:A245V;ENSP00000381739:A227V	ENSP00000354726:A227V	A	+	2	0	WNT8A	137454285	1.000000	0.71417	0.948000	0.38648	0.934000	0.57294	7.651000	0.83577	2.643000	0.89663	0.557000	0.71058	GCT		0.557	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
NME5	8382	broad.mit.edu	37	5	137474373	137474373	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137474373T>C	ENST00000265191.2	-	2	146	c.97A>G	c.(97-99)Att>Gtt	p.I33V		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	33					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.I33V(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAAGAATAATATCTTGTATC	0.353																																					p.I33V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A97G	5						.						132.0	121.0	125.0					5																	137474373		2203	4300	6503	137502272	SO:0001583	missense	8382	exon2			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.97A>G	5.37:g.137474373T>C	ENSP00000265191:p.Ile33Val	Somatic		Capture	Illumina HiSeq	Phase_I	137502272	NM_003551	B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727230	0.30593	.	.	ENSG00000112981	ENST00000265191	T	0.53857	0.6	5.45	5.45	0.79879	.	0.293640	0.38005	N	0.001849	T	0.41050	0.1142	L	0.41492	1.28	0.33700	D	0.61444	B	0.19445	0.036	B	0.19666	0.026	T	0.47446	-0.9117	10	0.09590	T	0.72	.	12.3157	0.54955	0.0:0.0:0.1508:0.8492	.	33	P56597	NDK5_HUMAN	V	33	ENSP00000265191:I33V	ENSP00000265191:I33V	I	-	1	0	NME5	137502272	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.266000	0.33039	2.078000	0.62432	0.459000	0.35465	ATT		0.353	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551	
KIF20A	10112	broad.mit.edu	37	5	137520605	137520605	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137520605A>G	ENST00000394894.3	+	14	2019	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	KIF20A_ENST00000508792.1_Missense_Mutation_p.E580G	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	598					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.E598G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGATGGTAGAACAGATGCAA	0.498																																					p.E598G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1793G	5						.						131.0	127.0	128.0					5																	137520605		2203	4300	6503	137548504	SO:0001583	missense	10112	exon14			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1793A>G	5.37:g.137520605A>G	ENSP00000378356:p.Glu598Gly	Somatic		Capture	Illumina HiSeq	Phase_I	137548504	NM_005733	B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807607	0.50421	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.72942	-0.68;-0.7	5.41	5.41	0.78517	.	0.000000	0.42548	D	0.000685	T	0.68256	0.2981	L	0.58101	1.795	0.53688	D	0.999978	P;B	0.37176	0.586;0.321	B;B	0.36922	0.236;0.045	T	0.69624	-0.5095	10	0.41790	T	0.15	-13.2001	15.6116	0.76727	1.0:0.0:0.0:0.0	.	580;598	B4DL79;O95235	.;KI20A_HUMAN	G	598;580	ENSP00000378356:E598G;ENSP00000420880:E580G	ENSP00000378356:E598G	E	+	2	0	KIF20A	137548504	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	6.182000	0.71995	2.276000	0.75962	0.455000	0.32223	GAA		0.498	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	
CDC23	8697	broad.mit.edu	37	5	137525534	137525534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137525534C>A	ENST00000394886.2	-	14	1516	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.D490Y(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAATAGATATCTTGGATATAT	0.368																																					p.D496Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1486T	5						.						121.0	117.0	118.0					5																	137525534		2203	4300	6503	137553433	SO:0001583	missense	8697	exon14			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1486G>T	5.37:g.137525534C>A	ENSP00000378350:p.Asp496Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	137553433	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433874	0.83776	.	.	ENSG00000094880	ENST00000394886	T	0.37058	1.22	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	L	0.46157	1.445	0.80722	D	1	P	0.35033	0.481	B	0.30716	0.119	T	0.22871	-1.0204	10	0.62326	D	0.03	-21.0632	19.3555	0.94410	0.0:1.0:0.0:0.0	.	496	Q9UJX2	CDC23_HUMAN	Y	496	ENSP00000378350:D496Y	ENSP00000378350:D496Y	D	-	1	0	CDC23	137553433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.813000	0.96785	0.561000	0.74099	GAT		0.368	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
CDC25C	995	broad.mit.edu	37	5	137625208	137625208	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137625208C>A	ENST00000323760.6	-	10	1187	c.909G>T	c.(907-909)aaG>aaT	p.K303N	CDC25C_ENST00000357274.3_Missense_Mutation_p.K260N|CDC25C_ENST00000513970.1_Missense_Mutation_p.K303N|CDC25C_ENST00000514555.1_Missense_Mutation_p.K273N|CDC25C_ENST00000348983.3_Missense_Mutation_p.K230N|CDC25C_ENST00000415130.2_Missense_Mutation_p.K230N|CDC25C_ENST00000356505.3_Missense_Mutation_p.K273N	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	303					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.K303N(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTTGACATACTTCAGATCTT	0.428																																					p.K303N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G909T	5						.						164.0	145.0	151.0					5																	137625208		2203	4300	6503	137653107	SO:0001583	missense	995	exon10			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.909G>T	5.37:g.137625208C>A	ENSP00000321656:p.Lys303Asn	Somatic		Capture	Illumina HiSeq	Phase_I	137653107	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010539|3.010539	0.54361|0.54361	.|.	.|.	ENSG00000158402|ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555|ENST00000514017	T;T;T;T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45;1.45;1.45;1.45|.	5.39|5.39	4.51|4.51	0.55191|0.55191	Rhodanese-like (2);|.	0.267081|.	0.32884|.	N|.	0.005523|.	T|T	0.68311|0.68311	0.2987|0.2987	M|M	0.81942|0.81942	2.565|2.565	0.41574|0.41574	D|D	0.988707|0.988707	D;D;D;D|.	0.67145|.	0.995;0.996;0.996;0.992|.	P;P;P;P|.	0.62649|.	0.905;0.857;0.864;0.738|.	T|T	0.69621|0.69621	-0.5096|-0.5096	10|5	0.87932|.	D|.	0|.	-17.7931|-17.7931	7.5562|7.5562	0.27824|0.27824	0.0:0.7748:0.0:0.2252|0.0:0.7748:0.0:0.2252	.|.	320;273;230;303|.	G3V1P6;P30307-2;P30307-4;P30307|.	.;.;.;MPIP3_HUMAN|.	N|L	303;273;260;230;230;303;320;273|98	ENSP00000321656:K303N;ENSP00000348898:K273N;ENSP00000349821:K260N;ENSP00000345205:K230N;ENSP00000392631:K230N;ENSP00000424795:K303N;ENSP00000425470:K273N|.	ENSP00000321656:K303N|.	K|V	-|-	3|1	2|0	CDC25C|CDC25C	137653107|137653107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.737000|1.737000	0.38197|0.38197	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	AAG|GTA		0.428	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1		
KDM3B	51780	broad.mit.edu	37	5	137726766	137726766	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137726766C>A	ENST00000314358.5	+	8	1645	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	KDM3B_ENST00000394866.1_Missense_Mutation_p.P138H|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	482					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P482H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCATCGCAACCTTTGACTTTT	0.463																																					p.P482H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1445A	5						.						78.0	78.0	78.0					5																	137726766		2203	4300	6503	137754665	SO:0001583	missense	51780	exon8			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1445C>A	5.37:g.137726766C>A	ENSP00000326563:p.Pro482His	Somatic		Capture	Illumina HiSeq	Phase_I	137754665	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883973	0.33255	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.51817	0.69;0.69	5.57	5.57	0.84162	.	0.345446	0.27917	N	0.017325	T	0.42966	0.1226	N	0.19112	0.55	0.80722	D	1	P;B	0.35656	0.514;0.214	B;B	0.40329	0.326;0.159	T	0.45205	-0.9277	10	0.66056	D	0.02	-24.522	19.5355	0.95253	0.0:1.0:0.0:0.0	.	138;482	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	482;272;138	ENSP00000326563:P482H;ENSP00000378335:P138H	ENSP00000326563:P482H	P	+	2	0	KDM3B	137754665	0.962000	0.33011	1.000000	0.80357	0.528000	0.34623	3.577000	0.53885	2.602000	0.87976	0.650000	0.86243	CCT		0.463	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
KDM3B	51780	broad.mit.edu	37	5	137727110	137727110	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137727110T>A	ENST00000314358.5	+	8	1989	c.1789T>A	c.(1789-1791)Tcc>Acc	p.S597T	KDM3B_ENST00000394866.1_Missense_Mutation_p.S253T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	597					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.S597T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCTGCAGAGTCCATGCCCAC	0.552																																					p.S597T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1789A	5						.						64.0	61.0	62.0					5																	137727110		2203	4300	6503	137755009	SO:0001583	missense	51780	exon8			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1789T>A	5.37:g.137727110T>A	ENSP00000326563:p.Ser597Thr	Somatic		Capture	Illumina HiSeq	Phase_I	137755009	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.745085	0.30955	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.65364	-0.15;-0.15	5.57	4.33	0.51752	.	0.539171	0.20554	N	0.090057	T	0.45696	0.1355	N	0.24115	0.695	0.80722	D	1	B;B	0.25105	0.11;0.118	B;B	0.22601	0.04;0.018	T	0.35674	-0.9779	10	0.21014	T	0.42	-6.6937	12.2971	0.54854	0.0:0.0:0.1414:0.8586	.	253;597	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	597;387;253	ENSP00000326563:S597T;ENSP00000378335:S253T	ENSP00000326563:S597T	S	+	1	0	KDM3B	137755009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.995000	0.49441	2.115000	0.64714	0.533000	0.62120	TCC		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
KDM3B	51780	broad.mit.edu	37	5	137756608	137756608	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137756608A>G	ENST00000314358.5	+	15	4129	c.3929A>G	c.(3928-3930)gAc>gGc	p.D1310G	KDM3B_ENST00000394866.1_Missense_Mutation_p.D966G|KDM3B_ENST00000542866.1_Missense_Mutation_p.D342G	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1310					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.D1310G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACCCCCTTGGACACAGGCATA	0.532																																					p.D1310G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3929G	5						.						101.0	87.0	92.0					5																	137756608		2203	4300	6503	137784507	SO:0001583	missense	51780	exon15			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3929A>G	5.37:g.137756608A>G	ENSP00000326563:p.Asp1310Gly	Somatic		Capture	Illumina HiSeq	Phase_I	137784507	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907096	0.72868	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74842	-0.29;-0.88;-0.78	5.63	5.63	0.86233	.	0.047350	0.85682	D	0.000000	T	0.71970	0.3403	L	0.49778	1.585	0.58432	D	0.999993	P;P	0.44816	0.844;0.764	B;B	0.41764	0.366;0.335	T	0.75819	-0.3183	10	0.62326	D	0.03	-26.9944	15.8169	0.78608	1.0:0.0:0.0:0.0	.	966;1310	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	G	1310;1100;966;342	ENSP00000326563:D1310G;ENSP00000378335:D966G;ENSP00000439462:D342G	ENSP00000326563:D1310G	D	+	2	0	KDM3B	137784507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.730000	0.91510	2.138000	0.66242	0.459000	0.35465	GAC		0.532	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
KDM3B	51780	broad.mit.edu	37	5	137765569	137765569	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137765569T>G	ENST00000314358.5	+	21	5008	c.4808T>G	c.(4807-4809)aTt>aGt	p.I1603S	KDM3B_ENST00000394866.1_Missense_Mutation_p.I1259S|KDM3B_ENST00000542866.1_Missense_Mutation_p.I635S	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1603	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.I1603S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGCAGAGGATTCATGATGGA	0.493																																					p.I1603S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4808G	5						.						91.0	86.0	88.0					5																	137765569		2203	4300	6503	137793468	SO:0001583	missense	51780	exon21			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4808T>G	5.37:g.137765569T>G	ENSP00000326563:p.Ile1603Ser	Somatic		Capture	Illumina HiSeq	Phase_I	137793468	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.767017	0.90020	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72615	-0.67;-0.67;-0.67	5.82	5.82	0.92795	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.051313	0.85682	D	0.000000	T	0.68705	0.3030	N	0.24115	0.695	0.80722	D	1	P;P	0.51057	0.936;0.941	P;P	0.53401	0.725;0.707	T	0.67749	-0.5590	10	0.31617	T	0.26	2.2239	16.1614	0.81721	0.0:0.0:0.0:1.0	.	1259;1603	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	1603;1393;1259;635	ENSP00000326563:I1603S;ENSP00000378335:I1259S;ENSP00000439462:I635S	ENSP00000326563:I1603S	I	+	2	0	KDM3B	137793468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.951000	0.87819	2.219000	0.72066	0.533000	0.62120	ATT		0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
CTNNA1	1495	broad.mit.edu	37	5	138160287	138160287	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:138160287G>A	ENST00000302763.7	+	6	747	c.657G>A	c.(655-657)ccG>ccA	p.P219P	CTNNA1_ENST00000518825.1_Silent_p.P219P|CTNNA1_ENST00000355078.5_Silent_p.P116P	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	219	Involved in homodimerization.		P -> S (in dbSNP:rs28363406). {ECO:0000269|Ref.6}.		adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.P219P(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAACGTTCCGATCCTCTATA	0.493																																					p.P219P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	5						.						86.0	76.0	80.0					5																	138160287		2203	4300	6503	138188186	SO:0001819	synonymous_variant	1495	exon6			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.657G>A	5.37:g.138160287G>A		Somatic		Capture	Illumina HiSeq	Phase_I	138188186	NM_001903	Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																				0.493	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
CTNNA1	1495	broad.mit.edu	37	5	138261054	138261054	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:138261054T>C	ENST00000302763.7	+	13	1947	c.1857T>C	c.(1855-1857)taT>taC	p.Y619Y	CTNNA1_ENST00000518825.1_Silent_p.Y619Y|CTNNA1_ENST00000355078.5_Silent_p.Y516Y|CTNNA1_ENST00000540387.1_Silent_p.Y249Y	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	619					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.Y619Y(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCTGGTATATGATGGCATCC	0.483																																					p.Y619Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1857C	5						.						106.0	95.0	99.0					5																	138261054		2203	4300	6503	138288953	SO:0001819	synonymous_variant	1495	exon13			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1857T>C	5.37:g.138261054T>C		Somatic		Capture	Illumina HiSeq	Phase_I	138288953	NM_001903	Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																				0.483	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
CTNNA1	1495	broad.mit.edu	37	5	138269768	138269768	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:138269768A>G	ENST00000302763.7	+	18	2801	c.2711A>G	c.(2710-2712)gAc>gGc	p.D904G	CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D801G|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D534G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	904					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.D904G(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGCTATGGACAGCATCTAA	0.522																																					p.D904G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2711G	5						.						39.0	39.0	39.0					5																	138269768		2203	4300	6503	138297667	SO:0001583	missense	1495	exon18			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2711A>G	5.37:g.138269768A>G	ENSP00000304669:p.Asp904Gly	Somatic		Capture	Illumina HiSeq	Phase_I	138297667	NM_001903	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817682	0.50633	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000540387;ENST00000520520	T;T;T	0.35605	1.74;1.3;1.88	4.77	4.77	0.60923	.	0.159172	0.56097	D	0.000039	T	0.34890	0.0913	L	0.43152	1.355	0.58432	D	0.999991	B;B	0.30068	0.038;0.267	B;B	0.35899	0.064;0.213	T	0.14337	-1.0476	10	0.34782	T	0.22	-5.4939	14.1296	0.65245	1.0:0.0:0.0:0.0	.	781;904	B4DKT9;P35221	.;CTNA1_HUMAN	G	801;904;927;889;534;134	ENSP00000347190:D801G;ENSP00000304669:D904G;ENSP00000438476:D534G	ENSP00000304669:D904G	D	+	2	0	CTNNA1	138297667	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	8.704000	0.91351	2.014000	0.59158	0.459000	0.35465	GAC		0.522	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
MATR3	9782	broad.mit.edu	37	5	138643996	138643996	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:138643996T>G	ENST00000394805.3	+	2	1227	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	MATR3_ENST00000510056.1_Missense_Mutation_p.L298V|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.L298V|MATR3_ENST00000509990.1_Missense_Mutation_p.L298V|MATR3_ENST00000394800.2_Missense_Mutation_p.L298V|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.L298V	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	298					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.L298V(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATATGTGATTTGCCAGTTCA	0.378																																					p.L298V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T892G	5						.						116.0	117.0	117.0					5																	138643996		2203	4300	6503	138671895	SO:0001583	missense	9782	exon2			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.892T>G	5.37:g.138643996T>G	ENSP00000378284:p.Leu298Val	Somatic		Capture	Illumina HiSeq	Phase_I	138671895	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.783|6.783	0.513478|0.513478	0.12944|0.12944	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	.|T;T;T;T;T;T;T	.|0.38240	.|1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.4|5.4	4.09|4.09	0.47781|0.47781	.|Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	.|0.140096	.|0.64402	.|D	.|0.000005	T|T	0.11836|0.11836	0.0288|0.0288	N|N	0.01874|0.01874	-0.695|-0.695	0.31832|0.31832	N|N	0.624571|0.624571	.|B;B;B	.|0.23591	.|0.018;0.088;0.018	.|B;B;B	.|0.18263	.|0.01;0.021;0.01	T|T	0.17837|0.17837	-1.0356|-1.0356	5|10	.|0.06757	.|T	.|0.87	-3.7732|-3.7732	9.835|9.835	0.40965|0.40965	0.2641:0.0:0.0:0.7359|0.2641:0.0:0.0:0.7359	.|.	.|298;298;298	.|D6REM6;A8MXP9;P43243	.|.;.;MATR3_HUMAN	M|V	71|298	.|ENSP00000423533:L298V;ENSP00000354346:L298V;ENSP00000422319:L298V;ENSP00000378279:L298V;ENSP00000378284:L298V;ENSP00000423290:L298V;ENSP00000426743:L298V	.|ENSP00000354346:L298V	I|L	+|+	3|1	3|2	MATR3|MATR3	138671895|138671895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.140000|3.140000	0.50585|0.50585	2.171000|2.171000	0.68590|0.68590	0.459000|0.459000	0.35465|0.35465	ATT|TTG		0.378	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
DNAH5	1767	broad.mit.edu	37	5	13820543	13820543	+	Silent	SNP	C	C	T	rs571519805		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13820543C>T	ENST00000265104.4	-	41	6857	c.6753G>A	c.(6751-6753)acG>acA	p.T2251T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2251	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2251T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCACTCTCTGCGTTTCGAATA	0.507									Kartagener syndrome																												p.T2251T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6753A	5						.						115.0	97.0	103.0					5																	13820543		2203	4300	6503	13873543	SO:0001819	synonymous_variant	1767	exon41	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6753G>A	5.37:g.13820543C>T		Somatic		Capture	Illumina HiSeq	Phase_I	13873543	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13850782	13850782	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13850782A>G	ENST00000265104.4	-	31	5197	c.5093T>C	c.(5092-5094)aTa>aCa	p.I1698T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1698	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1698T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTGGCATATTTCCAACTG	0.488									Kartagener syndrome																												p.I1698T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5093C	5						.						65.0	63.0	63.0					5																	13850782		2203	4300	6503	13903782	SO:0001583	missense	1767	exon31	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5093T>C	5.37:g.13850782A>G	ENSP00000265104:p.Ile1698Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13903782	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813026	0.32053	.	.	ENSG00000039139	ENST00000265104	T	0.60299	0.2	5.63	5.63	0.86233	Dynein heavy chain, domain-2 (1);	0.202441	0.49305	D	0.000142	T	0.42966	0.1226	N	0.17723	0.515	0.58432	D	0.999999	B	0.06786	0.001	B	0.14023	0.01	T	0.30504	-0.9976	10	0.16896	T	0.51	.	15.8443	0.78876	1.0:0.0:0.0:0.0	.	1698	Q8TE73	DYH5_HUMAN	T	1698	ENSP00000265104:I1698T	ENSP00000265104:I1698T	I	-	2	0	DNAH5	13903782	1.000000	0.71417	0.888000	0.34837	0.967000	0.64934	5.964000	0.70379	2.142000	0.66516	0.482000	0.46254	ATA		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13850872	13850872	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13850872C>A	ENST00000265104.4	-	31	5107	c.5003G>T	c.(5002-5004)cGg>cTg	p.R1668L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1668	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1668L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATGTGCCCGAGTCATGAT	0.468									Kartagener syndrome																												p.R1668L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5003T	5						.						103.0	101.0	102.0					5																	13850872		2203	4300	6503	13903872	SO:0001583	missense	1767	exon31	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5003G>T	5.37:g.13850872C>A	ENSP00000265104:p.Arg1668Leu	Somatic		Capture	Illumina HiSeq	Phase_I	13903872	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550824	0.96501	.	.	ENSG00000039139	ENST00000265104	T	0.61510	0.1	5.75	5.75	0.90469	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.85945	2.785	0.80722	D	1	P	0.42161	0.772	P	0.49012	0.598	T	0.76677	-0.2871	10	0.62326	D	0.03	.	19.946	0.97183	0.0:1.0:0.0:0.0	.	1668	Q8TE73	DYH5_HUMAN	L	1668	ENSP00000265104:R1668L	ENSP00000265104:R1668L	R	-	2	0	DNAH5	13903872	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.597000	0.82733	2.711000	0.92665	0.591000	0.81541	CGG		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13862815	13862815	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13862815T>C	ENST00000265104.4	-	29	4742	c.4638A>G	c.(4636-4638)caA>caG	p.Q1546Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1546	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1546Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTCAGCTTTTGCTCAATGT	0.438									Kartagener syndrome																												p.Q1546Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4638G	5						.						227.0	205.0	212.0					5																	13862815		2203	4300	6503	13915815	SO:0001819	synonymous_variant	1767	exon29	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4638A>G	5.37:g.13862815T>C		Somatic		Capture	Illumina HiSeq	Phase_I	13915815	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13864623	13864623	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13864623C>T	ENST00000265104.4	-	28	4583	c.4479G>A	c.(4477-4479)gaG>gaA	p.E1493E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1493	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1493E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTGCCGCTCCATCATGG	0.483									Kartagener syndrome																												p.E1493E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4479A	5						.						62.0	60.0	61.0					5																	13864623		2203	4300	6503	13917623	SO:0001819	synonymous_variant	1767	exon28	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4479G>A	5.37:g.13864623C>T		Somatic		Capture	Illumina HiSeq	Phase_I	13917623	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MATR3	9782	broad.mit.edu	37	5	138654715	138654715	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:138654715G>T	ENST00000394805.3	+	8	1762	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I	MATR3_ENST00000510056.1_Missense_Mutation_p.R476I|MATR3_ENST00000503811.1_Missense_Mutation_p.R188I|MATR3_ENST00000361059.2_Missense_Mutation_p.R476I|MATR3_ENST00000509990.1_Missense_Mutation_p.R476I|MATR3_ENST00000394800.2_Missense_Mutation_p.R476I|MATR3_ENST00000502499.1_Missense_Mutation_p.R138I|MATR3_ENST00000504203.1_Missense_Mutation_p.R138I|MATR3_ENST00000502929.1_Missense_Mutation_p.R476I	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	476					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.R476I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGTATAAAAGAATAAAGGTA	0.353																																					p.R476I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427T	5						.						41.0	41.0	41.0					5																	138654715		2203	4300	6503	138682614	SO:0001583	missense	9782	exon8			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1427G>T	5.37:g.138654715G>T	ENSP00000378284:p.Arg476Ile	Somatic		Capture	Illumina HiSeq	Phase_I	138682614	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.072766|5.072766	0.93950|0.93950	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811	.|T;T;T;T;T;T;T;T;T;T	.|0.73258	.|-0.72;-0.72;-0.14;-0.73;-0.73;-0.72;-0.14;-0.73;-0.67;-0.14	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Nucleotide-binding, alpha-beta plait (1);	.|0.293716	.|0.40728	.|N	.|0.001034	.|T	.|0.77883	.|0.4197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.65815	.|0.995;0.995;0.995;0.995;0.94;0.995	.|D;D;D;D;P;D	.|0.75484	.|0.986;0.979;0.986;0.979;0.835;0.979	.|T	.|0.78735	.|-0.2088	.|10	.|0.56958	.|D	.|0.05	-12.2241|-12.2241	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|188;476;188;476;476;476	.|B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.|.;.;.;.;.;MATR3_HUMAN	X|I	236|476;476;138;476;476;476;138;476;74;188	.|ENSP00000423533:R476I;ENSP00000354346:R476I;ENSP00000421218:R138I;ENSP00000422319:R476I;ENSP00000378279:R476I;ENSP00000378284:R476I;ENSP00000426030:R138I;ENSP00000426743:R476I;ENSP00000422649:R74I;ENSP00000423587:R188I	.|ENSP00000354346:R476I	E|R	+|+	1|2	0|0	MATR3|MATR3	138682614|138682614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	6.766000|6.766000	0.74970|0.74970	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.353	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
DNAH5	1767	broad.mit.edu	37	5	13883178	13883178	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13883178C>A	ENST00000265104.4	-	20	3113	c.3009G>T	c.(3007-3009)aaG>aaT	p.K1003N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1003	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1003N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGTTCTGCTTCATGTTAG	0.433									Kartagener syndrome																												p.K1003N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3009T	5						.						109.0	103.0	105.0					5																	13883178		2203	4300	6503	13936178	SO:0001583	missense	1767	exon20	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3009G>T	5.37:g.13883178C>A	ENSP00000265104:p.Lys1003Asn	Somatic		Capture	Illumina HiSeq	Phase_I	13936178	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	6.135	0.393105	0.11638	.	.	ENSG00000039139	ENST00000265104	T	0.23754	1.89	6.03	5.08	0.68730	.	0.147663	0.64402	D	0.000014	T	0.12902	0.0313	N	0.08118	0	0.52099	D	0.999948	B	0.06786	0.001	B	0.06405	0.002	T	0.09314	-1.0680	10	0.32370	T	0.25	.	9.3304	0.38018	0.0:0.7579:0.0:0.2421	.	1003	Q8TE73	DYH5_HUMAN	N	1003	ENSP00000265104:K1003N	ENSP00000265104:K1003N	K	-	3	2	DNAH5	13936178	0.412000	0.25392	0.995000	0.50966	0.247000	0.25773	0.211000	0.17474	1.401000	0.46761	0.557000	0.71058	AAG		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PSD2	84249	broad.mit.edu	37	5	139216544	139216544	+	Missense_Mutation	SNP	G	G	A	rs202188936		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:139216544G>A	ENST00000274710.3	+	10	1757	c.1552G>A	c.(1552-1554)Gtc>Atc	p.V518I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	518	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.V518I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCACGGCGTCCTGACCCG	0.642																																					p.V518I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1552A	5						.	G	ILE/VAL	1,4405		0,1,2202	128.0	114.0	119.0		1552	3.4	0.9	5		119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSD2	NM_032289.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	518/772	139216544	2,13004	2203	4300	6503	139196728	SO:0001583	missense	84249	exon10			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1552G>A	5.37:g.139216544G>A	ENSP00000274710:p.Val518Ile	Somatic		Capture	Illumina HiSeq	Phase_I	139196728	NM_032289	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778671	0.31502	2.27E-4	1.16E-4	ENSG00000146005	ENST00000274710	T	0.79141	-1.24	5.27	3.42	0.39159	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.204155	0.41712	D	0.000836	T	0.57932	0.2087	N	0.21097	0.63	0.45718	D	0.998623	B	0.27416	0.178	B	0.18561	0.022	T	0.49597	-0.8923	10	0.16420	T	0.52	.	7.6711	0.28460	0.1434:0.1418:0.7149:0.0	.	518	Q9BQI7	PSD2_HUMAN	I	518	ENSP00000274710:V518I	ENSP00000274710:V518I	V	+	1	0	PSD2	139196728	1.000000	0.71417	0.869000	0.34112	0.764000	0.43329	3.770000	0.55310	1.170000	0.42753	0.484000	0.47621	GTC		0.642	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
PFDN1	5201	broad.mit.edu	37	5	139680081	139680081	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:139680081C>T	ENST00000261813.4	-	2	167	c.120G>A	c.(118-120)acG>acA	p.T40T	PFDN1_ENST00000514611.1_5'UTR|PFDN1_ENST00000524074.1_Silent_p.T40T|PFDN1_ENST00000510217.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	40					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T40T(1)		endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGCTTTTTCGTTCTGTTTA	0.383																																					p.T40T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	5						.						273.0	226.0	242.0					5																	139680081		2203	4300	6503	139660265	SO:0001819	synonymous_variant	5201	exon2			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.120G>A	5.37:g.139680081C>T		Somatic		Capture	Illumina HiSeq	Phase_I	139660265	NM_002622	B2RD02|Q53F95|Q96EX6	Silent	SNP	ENST00000261813.4	37	CCDS4222.1																																																																																				0.383	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622	
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13920716C>T	ENST00000265104.4	-	6	775	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	224	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCACACTTTCGAAGGTTCAC	0.393									Kartagener syndrome																												p.R224Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G671A	5						.						106.0	103.0	104.0					5																	13920716		2202	4299	6501	13973716	SO:0001583	missense	1767	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.671G>A	5.37:g.13920716C>T	ENSP00000265104:p.Arg224Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13973716	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	2.481	-0.319707	0.05386	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	6.07	3.46	0.39613	.	0.160905	0.52532	N	0.000074	T	0.09512	0.0234	N	0.08118	0	0.21933	N	0.999469	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	10	0.12103	T	0.63	.	10.1659	0.42879	0.0:0.1769:0.0:0.8231	.	224	Q8TE73	DYH5_HUMAN	Q	224	ENSP00000265104:R224Q	ENSP00000265104:R224Q	R	-	2	0	DNAH5	13973716	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.758000	0.62220	0.190000	0.20209	-1.851000	0.00568	CGA		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
HBEGF	1839	broad.mit.edu	37	5	139715545	139715545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:139715545T>C	ENST00000230990.6	-	4	768	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	HBEGF_ENST00000507104.1_Missense_Mutation_p.T156A	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	156					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T156A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCATAGGTATATAAGCGA	0.532																																					p.T156A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A466G	5						.						135.0	116.0	122.0					5																	139715545		2203	4300	6503	139695729	SO:0001583	missense	1839	exon4				CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"""Diphtheria toxin receptor (heparin-binding EGF-like growth factor)"", ""heparin-binding epidermal growth factor"""	126150	"""diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"""	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.466A>G	5.37:g.139715545T>C	ENSP00000230990:p.Thr156Ala	Somatic		Capture	Illumina HiSeq	Phase_I	139695729	NM_001945	B2R821	Missense_Mutation	SNP	ENST00000230990.6	37	CCDS4223.1	.	.	.	.	.	.	.	.	.	.	T	6.334	0.429757	0.11987	.	.	ENSG00000113070	ENST00000230990;ENST00000507104	T;T	0.30182	1.54;1.54	5.86	0.344	0.16006	.	0.571417	0.20362	N	0.093830	T	0.12178	0.0296	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21415	-1.0246	10	0.08837	T	0.75	-0.0027	1.3934	0.02255	0.3787:0.1129:0.111:0.3973	.	156	Q99075	HBEGF_HUMAN	A	156	ENSP00000230990:T156A;ENSP00000425696:T156A	ENSP00000230990:T156A	T	-	1	0	HBEGF	139695729	0.011000	0.17503	0.304000	0.25085	0.839000	0.47603	0.257000	0.18369	0.069000	0.16605	0.533000	0.62120	ACC		0.532	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251665.2	NM_001945	
ANKHD1	54882	broad.mit.edu	37	5	139820661	139820661	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:139820661G>T	ENST00000360839.2	+	5	1001	c.847G>T	c.(847-849)Ggt>Tgt	p.G283C	ANKHD1_ENST00000394723.3_Missense_Mutation_p.G283C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G283C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G283C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G272C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	283						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G283C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGTGGAGGTTACTTAGA	0.378																																					p.G283C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G847T	5						.						128.0	121.0	123.0					5																	139820661		2203	4300	6503	139800845	SO:0001583	missense	404734	exon5			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.847G>T	5.37:g.139820661G>T	ENSP00000354085:p.Gly283Cys	Somatic		Capture	Illumina HiSeq	Phase_I	139800845	NM_024668	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042889	0.93685	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-0.79;-0.79;0.07;-0.79;-1.2	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90182	0.4243	10	0.59425	D	0.04	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	283;283;283;272;283	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	C	283;297;283;283;283;283;269;272;283	ENSP00000354085:G283C;ENSP00000297183:G283C;ENSP00000394489:G283C;ENSP00000378212:G283C;ENSP00000421069:G269C;ENSP00000378211:G272C;ENSP00000432016:G283C	ENSP00000432016:G283C	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139800845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.753000	0.94483	0.585000	0.79938	GGT		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
ANKHD1	54882	broad.mit.edu	37	5	139889762	139889762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:139889762G>A	ENST00000360839.2	+	22	4254	c.4100G>A	c.(4099-4101)cGc>cAc	p.R1367H	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1367H|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1367H	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1367						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R1367H(2)|p.R578H(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCATTTCGCAAGGTAATT	0.383																																					p.R1367H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G4100A	5						.						68.0	67.0	67.0					5																	139889762		2203	4300	6503	139869946	SO:0001583	missense	404734	exon22			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4100G>A	5.37:g.139889762G>A	ENSP00000354085:p.Arg1367His	Somatic		Capture	Illumina HiSeq	Phase_I	139869946	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.479782|5.479782	0.96307|0.96307	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219	.|T;T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.07;-0.25	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77665|0.77665	0.4164|0.4164	L|L	0.39633|0.39633	1.23|1.23	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.97;1.0;0.999;1.0;1.0;1.0	.|P;D;D;D;D;D	.|0.87578	.|0.846;0.996;0.996;0.998;0.998;0.998	T|T	0.78785|0.78785	-0.2068|-0.2068	5|10	.|0.87932	.|D	.|0	.|.	19.8369|19.8369	0.96660|0.96660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1367;578;1367;1386;1367;1367	.|E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	T|H	593|1367;1400;1367;1367;901;578;1386;520;23;1367	.|ENSP00000354085:R1367H;ENSP00000297183:R1367H;ENSP00000394489:R1386H;ENSP00000405602:R520H;ENSP00000393204:R23H;ENSP00000432016:R1367H	.|ENSP00000432016:R1367H	A|R	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139869946|139869946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.767000|2.767000	0.95098|0.95098	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
TMCO6	55374	broad.mit.edu	37	5	140023377	140023377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140023377G>A	ENST00000394671.3	+	9	1032	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	311					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502																																					p.V311M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	5						.						77.0	81.0	80.0					5																	140023377		2095	4230	6325	140003561	SO:0001583	missense	55374	exon9			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.931G>A	5.37:g.140023377G>A	ENSP00000378166:p.Val311Met	Somatic		Capture	Illumina HiSeq	Phase_I	140003561	NM_018502	Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864023	0.71949	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.50813	1.48;0.73;1.48	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.067263	0.64402	D	0.000010	T	0.61085	0.2319	L	0.34521	1.04	0.41941	D	0.990617	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.63812	-0.6552	10	0.87932	D	0	-15.1891	19.3067	0.94165	0.0:0.0:1.0:0.0	.	317;311	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	M	311;71;317	ENSP00000378166:V311M;ENSP00000444474:V71M;ENSP00000252100:V317M	ENSP00000252100:V317M	V	+	1	0	TMCO6	140003561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.969000	0.56816	2.673000	0.90976	0.556000	0.70494	GTG		0.502	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502	
PCDHA1	56147	broad.mit.edu	37	5	140166855	140166855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140166855G>T	ENST00000504120.2	+	1	980	c.980G>T	c.(979-981)aGt>aTt	p.S327I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S327I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S327I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S327I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAAGGAAGTCCTCCGATG	0.373																																					p.S327I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G980T	5						.						88.0	94.0	92.0					5																	140166855		2203	4300	6503	140147039	SO:0001583	missense	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.980G>T	5.37:g.140166855G>T	ENSP00000420840:p.Ser327Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140147039	NM_031411	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	3.042	-0.197182	0.06259	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01821	4.62;4.62;4.62	4.04	-2.81	0.05805	Cadherin (4);Cadherin-like (1);	0.624103	0.13985	U	0.349215	T	0.01421	0.0046	L	0.38531	1.155	0.09310	N	1	B;B;B	0.16802	0.002;0.019;0.003	B;B;B	0.19148	0.004;0.024;0.005	T	0.47156	-0.9139	10	0.18276	T	0.48	.	6.8545	0.24032	0.3623:0.3181:0.3196:0.0	.	327;327;327	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	327	ENSP00000420840:S327I;ENSP00000378129:S327I;ENSP00000367373:S327I	ENSP00000367373:S327I	S	+	2	0	PCDHA1	140147039	0.000000	0.05858	0.011000	0.14972	0.896000	0.52359	-0.178000	0.09782	-0.275000	0.09219	0.542000	0.68232	AGT		0.373	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA1	56147	broad.mit.edu	37	5	140167171	140167171	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140167171G>A	ENST00000504120.2	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA1_ENST00000394633.3_Silent_p.S432S|PCDHA1_ENST00000378133.3_Silent_p.S432S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S432S(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.637																																					p.S432S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1296A	5						.						83.0	89.0	87.0					5																	140167171		2203	4299	6502	140147355	SO:0001819	synonymous_variant	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1296G>A	5.37:g.140167171G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140147355	NM_031411	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																				0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA1	56147	broad.mit.edu	37	5	140167384	140167384	+	Silent	SNP	G	G	A	rs552435448	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140167384G>A	ENST00000504120.2	+	1	1509	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA1_ENST00000394633.3_Silent_p.A503A|PCDHA1_ENST00000378133.3_Silent_p.A503A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A503A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGCTGTCGAACT	0.677													.|||	4	0.000798722	0.0	0.0	5008	,	,		12943	0.0		0.0	False		,,,				2504	0.0041				p.A503A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1509A	5						.						57.0	59.0	58.0					5																	140167384		2203	4300	6503	140147568	SO:0001819	synonymous_variant	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1509G>A	5.37:g.140167384G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140147568	NM_031411	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																				0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA2	56146	broad.mit.edu	37	5	140175117	140175117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140175117G>A	ENST00000526136.1	+	1	568	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E190K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E190K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E190K(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTAAGCGAATCTTTGTC	0.458																																					p.E190K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G568A	5						.						96.0	103.0	100.0					5																	140175117		2203	4300	6503	140155301	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.568G>A	5.37:g.140175117G>A	ENSP00000431748:p.Glu190Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140155301	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.345388	0.00222	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.19669	2.13;2.13;2.13	3.87	-0.573	0.11742	Cadherin (4);Cadherin-like (1);	1.785050	0.04145	U	0.320225	T	0.01940	0.0061	N	0.00004	-3.325	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.12837	0.001;0.008;0.001	T	0.51012	-0.8759	10	0.02654	T	1	.	2.703	0.05154	0.4567:0.2339:0.2208:0.0886	.	190;190;190	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	190	ENSP00000430584:E190K;ENSP00000367372:E190K;ENSP00000431748:E190K	ENSP00000367372:E190K	E	+	1	0	PCDHA2	140155301	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.760000	0.04756	0.058000	0.16222	-0.153000	0.13522	GAA		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA2	56146	broad.mit.edu	37	5	140175632	140175632	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140175632G>T	ENST00000526136.1	+	1	1083	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E361D|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E361D	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E361D(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTCAGAGAACGCTTCCC	0.483																																					p.E361D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1083T	5						.						94.0	79.0	84.0					5																	140175632		2203	4300	6503	140155816	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1083G>T	5.37:g.140175632G>T	ENSP00000431748:p.Glu361Asp	Somatic		Capture	Illumina HiSeq	Phase_I	140155816	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.917962	0.52546	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.75367	-0.93;-0.93;-0.93	4.12	0.241	0.15494	Cadherin (3);Cadherin-like (1);	0.000000	0.39985	U	0.001209	D	0.88819	0.6540	H	0.97340	3.985	0.28869	N	0.895063	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82428	-0.0462	10	0.87932	D	0	.	8.9304	0.35666	0.3046:0.0:0.6954:0.0	.	361;361;361	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	D	361	ENSP00000430584:E361D;ENSP00000367372:E361D;ENSP00000431748:E361D	ENSP00000367372:E361D	E	+	3	2	PCDHA2	140155816	0.709000	0.27886	0.135000	0.22099	0.912000	0.54170	-0.137000	0.10389	-0.214000	0.10078	0.650000	0.86243	GAG		0.483	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA2	56146	broad.mit.edu	37	5	140176266	140176266	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140176266G>A	ENST00000526136.1	+	1	1717	c.1717G>A	c.(1717-1719)Gct>Act	p.A573T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A573T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A573T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	573					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A573T(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGCACCGCTGCTGGCGC	0.687																																					p.A573T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1717A	5						.						98.0	93.0	95.0					5																	140176266		2203	4298	6501	140156450	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1717G>A	5.37:g.140176266G>A	ENSP00000431748:p.Ala573Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140156450	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	0.167	-1.075714	0.01903	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52057	0.74;0.68;0.71	3.91	2.97	0.34412	Cadherin-like (1);	418.844000	0.01468	N	0.016148	T	0.28995	0.0720	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.17268	0.021;0.003;0.002	B;B;B	0.15870	0.014;0.005;0.005	T	0.22034	-1.0228	10	0.18710	T	0.47	.	7.6158	0.28156	0.2155:0.0:0.7845:0.0	.	573;573;573	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	573	ENSP00000430584:A573T;ENSP00000367372:A573T;ENSP00000431748:A573T	ENSP00000367372:A573T	A	+	1	0	PCDHA2	140156450	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.256000	0.18351	0.683000	0.31428	-0.389000	0.06534	GCT		0.687	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA2	56146	broad.mit.edu	37	5	140176744	140176744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140176744G>A	ENST00000526136.1	+	1	2195	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R732H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R732H	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	732					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R732H(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTGCGCGCGCGCCAGGA	0.682																																					p.R732H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2195A	5						.						49.0	52.0	51.0					5																	140176744		2203	4299	6502	140156928	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2195G>A	5.37:g.140176744G>A	ENSP00000431748:p.Arg732His	Somatic		Capture	Illumina HiSeq	Phase_I	140156928	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	3.358	-0.131079	0.06753	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	D;D;D	0.96011	-3.88;-3.88;-3.88	4.0	3.1	0.35709	.	0.365474	0.19533	U	0.111984	D	0.85243	0.5652	N	0.08118	0	0.09310	N	1	B;B;B	0.30709	0.291;0.004;0.001	B;B;B	0.15870	0.014;0.007;0.005	T	0.75789	-0.3194	10	0.21540	T	0.41	.	8.1013	0.30859	0.1238:0.0:0.8762:0.0	.	732;732;732	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	732	ENSP00000430584:R732H;ENSP00000367372:R732H;ENSP00000431748:R732H	ENSP00000367372:R732H	R	+	2	0	PCDHA2	140156928	.	.	0.013000	0.15412	0.001000	0.01503	.	.	1.944000	0.56390	0.585000	0.79938	CGC		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA3	56145	broad.mit.edu	37	5	140180927	140180927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140180927G>A	ENST00000522353.2	+	1	145	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A49T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A49T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCGCAGGACCT	0.652																																					p.A49T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G145A	5						.						51.0	61.0	58.0					5																	140180927		2203	4300	6503	140161111	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.145G>A	5.37:g.140180927G>A	ENSP00000429808:p.Ala49Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140161111	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	19.66	3.868920	0.72065	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55413	0.52;0.52	4.48	3.61	0.41365	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38663	U	0.001605	T	0.69708	0.3141	M	0.85542	2.76	0.36226	D	0.852295	D;D	0.76494	0.985;0.999	B;P	0.58454	0.408;0.839	T	0.80390	-0.1402	10	0.72032	D	0.01	.	12.8043	0.57605	0.081:0.0:0.919:0.0	.	49;49	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	49	ENSP00000429808:A49T;ENSP00000434086:A49T	ENSP00000429808:A49T	A	+	1	0	PCDHA3	140161111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.367000	0.73099	1.029000	0.39812	0.586000	0.80456	GCG		0.652	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA3	56145	broad.mit.edu	37	5	140181333	140181333	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140181333G>T	ENST00000522353.2	+	1	551	c.551G>T	c.(550-552)aGa>aTa	p.R184I	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R184I|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R184I(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTTAAAAGAAATGATGAG	0.368																																					p.R184I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G551T	5						.						59.0	63.0	62.0					5																	140181333		2203	4300	6503	140161517	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.551G>T	5.37:g.140181333G>T	ENSP00000429808:p.Arg184Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140161517	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	1.966	-0.437734	0.04636	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52057	0.68;0.68	4.86	-0.358	0.12575	Cadherin (4);Cadherin-like (1);	0.546870	0.14841	U	0.295286	T	0.31606	0.0802	L	0.42581	1.335	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.008	T	0.20075	-1.0286	10	0.44086	T	0.13	.	1.8481	0.03163	0.3718:0.197:0.3202:0.111	.	184;184	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	I	184	ENSP00000429808:R184I;ENSP00000434086:R184I	ENSP00000429808:R184I	R	+	2	0	PCDHA3	140161517	0.000000	0.05858	0.936000	0.37596	0.125000	0.20455	-2.034000	0.01424	0.213000	0.20722	-0.373000	0.07131	AGA		0.368	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA5	56143	broad.mit.edu	37	5	140202933	140202933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140202933G>A	ENST00000529859.1	+	1	1573	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PCDHA5_ENST00000529619.1_Missense_Mutation_p.E525K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E525K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E525K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAAGTGGA	0.692																																					p.E525K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1573A	5						.						49.0	57.0	54.0					5																	140202933		2203	4296	6499	140183117	SO:0001583	missense	56143	exon1			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1573G>A	5.37:g.140202933G>A	ENSP00000436557:p.Glu525Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140183117	NM_031501	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125667	0.77436	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.72394	-0.65;-0.65;-0.65	3.86	3.86	0.44501	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.89536	0.6743	H	0.97707	4.06	0.44660	D	0.997642	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93750	0.7058	9	0.87932	D	0	.	16.2179	0.82239	0.0:0.0:1.0:0.0	.	525;525;525	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	525	ENSP00000433416:E525K;ENSP00000436557:E525K;ENSP00000367366:E525K	ENSP00000367366:E525K	E	+	1	0	PCDHA5	140183117	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.159000	0.71856	1.864000	0.54056	0.461000	0.40582	GAG		0.692	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHA6	56142	broad.mit.edu	37	5	140208802	140208802	+	Missense_Mutation	SNP	G	G	A	rs369380988		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140208802G>A	ENST00000529310.1	+	1	1240	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D376N|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D376N(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGAACGACCTCGATTC	0.498																																					p.D376N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1126A	5						.						152.0	144.0	146.0					5																	140208802		2203	4300	6503	140188986	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1126G>A	5.37:g.140208802G>A	ENSP00000433378:p.Asp376Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140188986	NM_031849	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977662	0.53720	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.41400	1.0;1.0	3.7	3.7	0.42460	Cadherin (4);Cadherin-like (1);	0.000000	0.38111	U	0.001815	T	0.79064	0.4383	H	0.99211	4.47	0.40342	D	0.979041	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89340	0.3653	10	0.87932	D	0	.	15.9817	0.80114	0.0:0.0:1.0:0.0	.	376;376;376	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	N	376	ENSP00000433378:D376N;ENSP00000434113:D376N	ENSP00000434113:D376N	D	+	1	0	PCDHA6	140188986	1.000000	0.71417	0.168000	0.22838	0.332000	0.28634	9.598000	0.98277	2.055000	0.61198	0.313000	0.20887	GAC		0.498	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA6	56142	broad.mit.edu	37	5	140209906	140209906	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140209906G>A	ENST00000529310.1	+	1	2344	c.2230G>A	c.(2230-2232)Gca>Aca	p.A744T	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	744					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A744T(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCCAGCGCAGTGGGGAG	0.682																																					p.A744T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2230A	5						.						44.0	45.0	45.0					5																	140209906		2203	4299	6502	140190090	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2230G>A	5.37:g.140209906G>A	ENSP00000433378:p.Ala744Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140190090	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253845	0.22965	.	.	ENSG00000081842	ENST00000529310	T	0.15139	2.45	3.98	3.98	0.46160	.	0.220936	0.22040	U	0.065461	T	0.26448	0.0646	M	0.89658	3.05	0.80722	D	1	B;B	0.31040	0.305;0.056	B;B	0.32533	0.147;0.012	T	0.14755	-1.0461	10	0.52906	T	0.07	.	7.2432	0.26107	0.0891:0.0:0.7417:0.1693	.	744;744	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	744	ENSP00000433378:A744T	ENSP00000433378:A744T	A	+	1	0	PCDHA6	140190090	1.000000	0.71417	0.991000	0.47740	0.207000	0.24258	3.504000	0.53347	2.216000	0.71823	0.306000	0.20318	GCA		0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA8	56140	broad.mit.edu	37	5	140222794	140222794	+	Missense_Mutation	SNP	G	G	A	rs370596725		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140222794G>A	ENST00000531613.1	+	1	1888	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E630K|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E630K(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.652																																					p.E630K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1888A	5						.						111.0	109.0	110.0					5																	140222794		2198	4268	6466	140202978	SO:0001583	missense	56140	exon1			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1888G>A	5.37:g.140222794G>A	ENSP00000434655:p.Glu630Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140202978	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071754	0.55646	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53206	0.63;0.63	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.37053	U	0.002270	T	0.74107	0.3673	M	0.92604	3.325	0.34961	D	0.752209	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.86403	0.1743	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	630;630	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	630	ENSP00000434655:E630K;ENSP00000367363:E630K	ENSP00000367363:E630K	E	+	1	0	PCDHA8	140202978	0.999000	0.42202	0.998000	0.56505	0.026000	0.11368	3.610000	0.54125	1.624000	0.50355	0.313000	0.20887	GAG		0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA9	9752	broad.mit.edu	37	5	140229038	140229038	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140229038G>T	ENST00000532602.1	+	1	1991	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.V320F|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	320	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)	p.V320F(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGATCCCAGTCGAGGCTGT	0.448																																					p.V320F	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G958T	5						.						63.0	59.0	60.0					5																	140229038		2195	4262	6457	140209222	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.958G>T	5.37:g.140229038G>T	ENSP00000436042:p.Val320Phe	Somatic		Capture	Illumina HiSeq	Phase_I	140209222	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776053	0.49786	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.71698	-0.59;-0.59	3.79	-1.3	0.09259	Cadherin (4);Cadherin-like (1);	0.000000	0.29066	U	0.013254	D	0.85383	0.5684	H	0.97186	3.955	0.09310	N	1	D;P	0.61697	0.99;0.935	D;P	0.78314	0.991;0.528	T	0.75551	-0.3278	10	0.87932	D	0	.	5.9138	0.19043	0.525:0.0:0.3426:0.1324	.	320;320	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	F	320	ENSP00000436042:V320F;ENSP00000367362:V320F	ENSP00000367362:V320F	V	+	1	0	PCDHA9	140209222	0.000000	0.05858	0.004000	0.12327	0.156000	0.22039	-0.869000	0.04232	-0.446000	0.07149	0.313000	0.20887	GTC		0.448	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA9	9752	broad.mit.edu	37	5	140230052	140230052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140230052G>A	ENST00000532602.1	+	1	3005	c.1972G>A	c.(1972-1974)Gcg>Acg	p.A658T	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A658T|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	658	Cadherin 6. {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)	p.A658T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGAGCCAGCGCTGACGGC	0.697																																					p.A658T	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1972A	5						.						43.0	47.0	46.0					5																	140230052		2197	4268	6465	140210236	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1972G>A	5.37:g.140230052G>A	ENSP00000436042:p.Ala658Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140210236	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155572	0.21454	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52295	0.67;0.67	4.13	-0.434	0.12283	Cadherin (4);Cadherin-like (1);	0.706306	0.10568	U	0.659451	T	0.40094	0.1103	L	0.43598	1.365	0.09310	N	1	B;B	0.17667	0.001;0.023	B;B	0.19148	0.024;0.007	T	0.41822	-0.9487	10	0.62326	D	0.03	.	11.8638	0.52482	0.0889:0.5126:0.3984:0.0	.	658;658	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	658	ENSP00000436042:A658T;ENSP00000367362:A658T	ENSP00000367362:A658T	A	+	1	0	PCDHA9	140210236	0.000000	0.05858	0.256000	0.24389	0.285000	0.27093	-0.252000	0.08806	-0.021000	0.14009	0.313000	0.20887	GCG		0.697	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	broad.mit.edu	37	5	140235780	140235780	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140235780G>T	ENST00000307360.5	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q49H|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49H(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCGCAGGACCTGGGGC	0.642																																					p.Q49H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G147T	5						.						51.0	58.0	55.0					5																	140235780		2196	4268	6464	140215964	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.147G>T	5.37:g.140235780G>T	ENSP00000304234:p.Gln49His	Somatic		Capture	Illumina HiSeq	Phase_I	140215964	NM_018901	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913156	0.33815	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.28454	1.61;1.61	4.27	1.53	0.23141	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.50548	0.1622	M	0.85542	2.76	0.30962	N	0.723509	D;P;D	0.65815	0.995;0.861;0.995	P;P;P	0.62435	0.728;0.518;0.902	T	0.53732	-0.8397	9	0.87932	D	0	.	5.6525	0.17625	0.2344:0.1403:0.6253:0.0	.	49;49;49	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	49	ENSP00000421030:Q49H;ENSP00000304234:Q49H	ENSP00000304234:Q49H	Q	+	3	2	PCDHA10	140215964	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	1.784000	0.38674	0.211000	0.20683	-0.222000	0.12452	CAG		0.642	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA11	56138	broad.mit.edu	37	5	140249499	140249499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140249499G>A	ENST00000398640.2	+	1	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E271K(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGAGACGAAGGAGTCAA	0.388																																					p.E271K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	5						.						34.0	34.0	34.0					5																	140249499		1928	4143	6071	140229683	SO:0001583	missense	56138	exon1			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.811G>A	5.37:g.140249499G>A	ENSP00000381636:p.Glu271Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140229683	NM_031861	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763721	0.49574	.	.	ENSG00000249158	ENST00000398640	T	0.52295	0.67	5.71	5.71	0.89125	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.67571	0.2907	M	0.84846	2.72	0.38162	D	0.939055	D;D	0.61697	0.981;0.99	P;B	0.56960	0.81;0.382	T	0.75725	-0.3217	9	0.87932	D	0	.	15.3504	0.74380	0.0:0.139:0.861:0.0	.	271;271	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	K	271	ENSP00000381636:E271K	ENSP00000381636:E271K	E	+	1	0	PCDHA11	140229683	1.000000	0.71417	0.992000	0.48379	0.002000	0.02628	5.412000	0.66392	2.707000	0.92482	0.655000	0.94253	GAA		0.388	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHA12	56137	broad.mit.edu	37	5	140255868	140255868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140255868G>A	ENST00000398631.2	+	1	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	271	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)	p.E271K(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATCCAGACGAAGGACTTAA	0.388																																					p.E271K	Pancreas(113;759 1672 13322 24104 50104)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G811A	5						.						108.0	111.0	110.0					5																	140255868		1866	4099	5965	140236052	SO:0001583	missense	56137	exon1			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.811G>A	5.37:g.140255868G>A	ENSP00000381628:p.Glu271Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140236052	NM_031864	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631655	0.67015	.	.	ENSG00000251664	ENST00000398631	T	0.52295	0.67	5.07	3.26	0.37387	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.67599	0.2910	M	0.90650	3.135	0.28968	N	0.88941	P;P	0.47191	0.867;0.891	P;P	0.55011	0.52;0.766	T	0.65307	-0.6200	9	0.72032	D	0.01	.	11.1018	0.48179	0.1546:0.0:0.8454:0.0	.	271;271	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	K	271	ENSP00000381628:E271K	ENSP00000381628:E271K	E	+	1	0	PCDHA12	140236052	0.959000	0.32827	0.673000	0.29887	0.775000	0.43874	2.839000	0.48207	1.134000	0.42165	0.591000	0.81541	GAA		0.388	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHA13	56136	broad.mit.edu	37	5	140263503	140263503	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140263503G>A	ENST00000289272.2	+	1	1650	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.T550T|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	550	Cadherin 5. {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)	p.T550T(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.687																																					p.T550T	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1650A	5						.						70.0	76.0	74.0					5																	140263503		2203	4298	6501	140243687	SO:0001819	synonymous_variant	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1650G>A	5.37:g.140263503G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140243687	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHAC1	56135	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522																																					p.E339K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1015A	5						.						161.0	151.0	154.0					5																	140307492		2203	4300	6503	140287676	SO:0001583	missense	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1015G>A	5.37:g.140307492G>A	ENSP00000253807:p.Glu339Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140287676	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616330	0.46736	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.59638	0.25;0.25	5.91	4.07	0.47477	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.64260	0.2582	M	0.64404	1.975	0.29974	N	0.818347	D;D	0.60575	0.986;0.988	P;P	0.48840	0.584;0.592	T	0.66622	-0.5877	9	0.87932	D	0	.	16.3146	0.82913	0.0:0.2579:0.7421:0.0	.	339;339	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	339	ENSP00000386356:E339K;ENSP00000253807:E339K	ENSP00000253807:E339K	E	+	1	0	PCDHAC1	140287676	0.990000	0.36364	0.019000	0.16419	0.048000	0.14542	2.733000	0.47360	0.778000	0.33520	0.462000	0.41574	GAA		0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHAC2	56134	broad.mit.edu	37	5	140346930	140346930	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140346930C>T	ENST00000289269.5	+	1	1111	c.579C>T	c.(577-579)ttC>ttT	p.F193F	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F193F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCACTTCGAGCTGGACC	0.627																																					p.F193F	Melanoma(190;638 2083 3390 11909 52360)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	5						.						30.0	26.0	28.0					5																	140346930		2203	4299	6502	140327114	SO:0001819	synonymous_variant	56134	exon1			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.579C>T	5.37:g.140346930C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140327114	NM_018899	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																				0.627	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB2	56133	broad.mit.edu	37	5	140474846	140474846	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140474846C>T	ENST00000194155.4	+	1	620	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R158C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTAATAGAACGTGCCCAGGA	0.383																																					p.R158C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	5						.						30.0	32.0	31.0					5																	140474846		2201	4300	6501	140455030	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.472C>T	5.37:g.140474846C>T	ENSP00000194155:p.Arg158Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140455030	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059672	0.19987	.	.	ENSG00000112852	ENST00000194155	T	0.53423	0.62	5.14	-1.79	0.07932	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37293	0.0998	M	0.67569	2.06	0.09310	N	1	B	0.21520	0.057	B	0.18561	0.022	T	0.40757	-0.9546	9	0.46703	T	0.11	.	0.7886	0.01053	0.3707:0.244:0.1862:0.1992	.	158	Q9Y5E7	PCDB2_HUMAN	C	158	ENSP00000194155:R158C	ENSP00000194155:R158C	R	+	1	0	PCDHB2	140455030	0.000000	0.05858	0.873000	0.34254	0.925000	0.55904	-2.353000	0.01090	-0.235000	0.09767	0.655000	0.94253	CGT		0.383	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB3	56132	broad.mit.edu	37	5	140481185	140481185	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140481185G>A	ENST00000231130.2	+	1	952	c.952G>A	c.(952-954)Gac>Aac	p.D318N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D318N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTCGACATCGAGGC	0.428																																					p.D318N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G952A	5						.						59.0	63.0	61.0					5																	140481185		2203	4300	6503	140461369	SO:0001583	missense	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.952G>A	5.37:g.140481185G>A	ENSP00000231130:p.Asp318Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140461369	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.896772	0.00522	.	.	ENSG00000113205	ENST00000231130	T	0.49139	0.79	4.93	3.12	0.35913	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.25158	0.0611	N	0.11870	0.19	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.18085	-1.0348	9	0.17832	T	0.49	.	5.7343	0.18057	0.2557:0.0:0.5982:0.1461	.	318	Q9Y5E6	PCDB3_HUMAN	N	318	ENSP00000231130:D318N	ENSP00000231130:D318N	D	+	1	0	PCDHB3	140461369	0.000000	0.05858	0.014000	0.15608	0.530000	0.34684	-1.942000	0.01541	1.210000	0.43336	0.655000	0.94253	GAC		0.428	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB4	56131	broad.mit.edu	37	5	140502384	140502384	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140502384A>C	ENST00000194152.1	+	1	804	c.804A>C	c.(802-804)atA>atC	p.I268I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I268I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGAGATATAGATGCTGGAA	0.423																																					p.I268I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A804C	5						.						104.0	117.0	113.0					5																	140502384		2202	4300	6502	140482568	SO:0001819	synonymous_variant	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.804A>C	5.37:g.140502384A>C		Somatic		Capture	Illumina HiSeq	Phase_I	140482568	NM_018938	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.423	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB4	56131	broad.mit.edu	37	5	140503397	140503397	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140503397T>C	ENST00000194152.1	+	1	1817	c.1817T>C	c.(1816-1818)cTc>cCc	p.L606P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	606	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L606P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAGCTGCTCAAGGCCACG	0.716																																					p.L606P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1817C	5						.						18.0	18.0	18.0					5																	140503397		2067	4101	6168	140483581	SO:0001583	missense	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1817T>C	5.37:g.140503397T>C	ENSP00000194152:p.Leu606Pro	Somatic		Capture	Illumina HiSeq	Phase_I	140483581	NM_018938	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762112	0.49468	.	.	ENSG00000081818	ENST00000194152	T	0.58358	0.34	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73497	0.3594	M	0.86178	2.8	0.58432	D	0.999991	D	0.89917	1.0	D	0.79108	0.992	T	0.79014	-0.1976	9	0.87932	D	0	.	13.0999	0.59214	0.0:0.0:0.0:1.0	.	606	Q9Y5E5	PCDB4_HUMAN	P	606	ENSP00000194152:L606P	ENSP00000194152:L606P	L	+	2	0	PCDHB4	140483581	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.139000	0.16036	1.813000	0.52934	0.397000	0.26171	CTC		0.716	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB5	26167	broad.mit.edu	37	5	140515167	140515167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140515167G>T	ENST00000231134.5	+	1	368	c.151G>T	c.(151-153)Gac>Tac	p.D51Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D51Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCAAAAGACCTGGGTCT	0.498																																					p.D51Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G151T	5						.						65.0	70.0	68.0					5																	140515167		2203	4300	6503	140495351	SO:0001583	missense	26167	exon1			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.151G>T	5.37:g.140515167G>T	ENSP00000231134:p.Asp51Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	140495351	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800653	0.70567	.	.	ENSG00000113209	ENST00000231134	T	0.34667	1.35	5.37	5.37	0.77165	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.75027	0.3794	H	0.97240	3.965	0.51012	D	0.999906	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	9	0.87932	D	0	.	19.0701	0.93130	0.0:0.0:1.0:0.0	.	51	Q9Y5E4	PCDB5_HUMAN	Y	51	ENSP00000231134:D51Y	ENSP00000231134:D51Y	D	+	1	0	PCDHB5	140495351	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.441000	0.80485	2.683000	0.91414	0.555000	0.69702	GAC		0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB5	26167	broad.mit.edu	37	5	140516233	140516233	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140516233G>T	ENST00000231134.5	+	1	1434	c.1217G>T	c.(1216-1218)aGa>aTa	p.R406I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R406I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGACACAGAGAACACTGGAC	0.498																																					p.R406I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217T	5						.						109.0	102.0	105.0					5																	140516233		2203	4300	6503	140496417	SO:0001583	missense	26167	exon1			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1217G>T	5.37:g.140516233G>T	ENSP00000231134:p.Arg406Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140496417	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	2.484	-0.319070	0.05386	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.54071	0.59	4.84	1.01	0.19927	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52677	0.1749	M	0.80847	2.515	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.50857	-0.8778	9	0.51188	T	0.08	.	9.1764	0.37114	0.2999:0.0:0.7001:0.0	.	406	Q9Y5E4	PCDB5_HUMAN	I	406;190	ENSP00000231134:R406I	ENSP00000231134:R406I	R	+	2	0	PCDHB5	140496417	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.749000	0.04813	0.210000	0.20664	-0.266000	0.10368	AGA		0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB5	26167	broad.mit.edu	37	5	140516479	140516479	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140516479C>T	ENST00000231134.5	+	1	1680	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S488L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.642																																					p.S488L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1463T	5						.						100.0	99.0	100.0					5																	140516479		2203	4300	6503	140496663	SO:0001583	missense	26167	exon1			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1463C>T	5.37:g.140516479C>T	ENSP00000231134:p.Ser488Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140496663	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420015	0.42918	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.03094	4.05	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12263	0.0298	M	0.87827	2.91	0.30521	N	0.768435	B	0.31435	0.323	B	0.37198	0.243	T	0.00817	-1.1554	9	0.72032	D	0.01	.	16.1213	0.81359	0.0:1.0:0.0:0.0	.	488	Q9Y5E4	PCDB5_HUMAN	L	488;272	ENSP00000231134:S488L	ENSP00000231134:S488L	S	+	2	0	PCDHB5	140496663	0.002000	0.14202	1.000000	0.80357	0.895000	0.52256	1.560000	0.36331	2.317000	0.78254	0.485000	0.47835	TCG		0.642	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB6	56130	broad.mit.edu	37	5	140530442	140530442	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140530442G>A	ENST00000231136.1	+	1	604	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E66K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E202K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGACCGCGAGGAGCAGCC	0.597																																					p.E202K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604A	5						.						65.0	69.0	68.0					5																	140530442		2203	4300	6503	140510626	SO:0001583	missense	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.604G>A	5.37:g.140530442G>A	ENSP00000231136:p.Glu202Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140510626	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732178	0.89390	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.72394	-0.65;-0.65	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91026	0.7177	H	0.98754	4.32	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.94880	0.8038	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	202	Q9Y5E3	PCDB6_HUMAN	K	66;202	ENSP00000438466:E66K;ENSP00000231136:E202K	ENSP00000231136:E202K	E	+	1	0	PCDHB6	140510626	1.000000	0.71417	0.952000	0.39060	0.604000	0.37047	7.966000	0.87956	2.394000	0.81467	0.561000	0.74099	GAG		0.597	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB6	56130	broad.mit.edu	37	5	140531677	140531677	+	Silent	SNP	C	C	T	rs528095699		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140531677C>T	ENST00000231136.1	+	1	1839	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	PCDHB6_ENST00000543635.1_Silent_p.F477F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F613F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTCTGTTCGGCGTGTGGG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.001				p.F613F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1839T	5						.																																			140511861	SO:0001819	synonymous_variant	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1839C>T	5.37:g.140531677C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140511861	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																				0.672	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB7	56129	broad.mit.edu	37	5	140552652	140552652	+	Missense_Mutation	SNP	C	C	T	rs377570891		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140552652C>T	ENST00000231137.3	+	1	410	c.236C>T	c.(235-237)tCg>tTg	p.S79L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	79	Cadherin 1. {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)	p.S79L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGTTCGCTTACTGGT	0.473																																					p.S79L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C236T	5						.						85.0	88.0	87.0					5																	140552652		2203	4300	6503	140532836	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.236C>T	5.37:g.140552652C>T	ENSP00000231137:p.Ser79Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140532836	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.198534	0.00299	.	.	ENSG00000113212	ENST00000231137	T	0.16196	2.36	4.61	0.223	0.15292	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.02230	0.0069	N	0.00132	-2.035	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44467	-0.9326	9	0.06891	T	0.86	.	1.1053	0.01693	0.1301:0.2991:0.2494:0.3214	.	79	Q9Y5E2	PCDB7_HUMAN	L	79	ENSP00000231137:S79L	ENSP00000231137:S79L	S	+	2	0	PCDHB7	140532836	0.000000	0.05858	0.619000	0.29118	0.020000	0.10135	-2.199000	0.01238	0.405000	0.25532	-0.345000	0.07892	TCG		0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB7	56129	broad.mit.edu	37	5	140554360	140554360	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140554360C>T	ENST00000231137.3	+	1	2118	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	648	Cadherin 6. {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)	p.G648G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAATGGCGAGCCTCCGC	0.716																																					p.G648G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944T	5						.						22.0	36.0	32.0					5																	140554360		2087	4204	6291	140534544	SO:0001819	synonymous_variant	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1944C>T	5.37:g.140554360C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140534544	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.716	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB8	56128	broad.mit.edu	37	5	140558873	140558873	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140558873G>A	ENST00000239444.2	+	1	1503	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	420	Cadherin 4. {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)	p.V420I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTACAACGTCACTATCAC	0.517																																					p.V420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1258A	5						.						167.0	201.0	189.0					5																	140558873		2203	4300	6503	140539057	SO:0001583	missense	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1258G>A	5.37:g.140558873G>A	ENSP00000239444:p.Val420Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140539057	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.386427	0.00202	.	.	ENSG00000120322	ENST00000239444	T	0.36878	1.23	4.08	-8.17	0.01057	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06508	0.0167	N	0.00268	-1.735	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.41610	-0.9499	9	0.02654	T	1	.	10.6257	0.45506	0.3149:0.1146:0.5705:0.0	.	420	Q9UN66	PCDB8_HUMAN	I	420	ENSP00000239444:V420I	ENSP00000239444:V420I	V	+	1	0	PCDHB8	140539057	0.000000	0.05858	0.712000	0.30502	0.008000	0.06430	-1.563000	0.02154	-1.494000	0.01833	-1.483000	0.00984	GTC		0.517	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB16	57717	broad.mit.edu	37	5	140564268	140564268	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140564268C>T	ENST00000361016.2	+	1	3289	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	712					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R712W(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682																																					p.R712W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2134T	5						.						68.0	78.0	74.0					5																	140564268		2196	4287	6483	140544452	SO:0001583	missense	57717	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2134C>T	5.37:g.140564268C>T	ENSP00000354293:p.Arg712Trp	Somatic		Capture	Illumina HiSeq	Phase_I	140544452	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	12.63	1.996809	0.35226	.	.	ENSG00000196963	ENST00000361016	T	0.17054	2.3	3.91	-1.09	0.09904	.	0.249082	0.20865	N	0.084278	T	0.30448	0.0765	H	0.98048	4.135	0.09310	N	1	P	0.36412	0.552	B	0.33690	0.168	T	0.33471	-0.9867	10	0.87932	D	0	.	7.4933	0.27475	0.697:0.1547:0.0:0.1482	.	712	Q9NRJ7	PCDBG_HUMAN	W	712	ENSP00000354293:R712W	ENSP00000354293:R712W	R	+	1	2	PCDHB16	140544452	0.000000	0.05858	0.353000	0.25747	0.127000	0.20565	0.647000	0.24812	-0.246000	0.09611	-2.031000	0.00424	CGG		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	broad.mit.edu	37	5	140568267	140568267	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140568267T>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACACCCTGTTCGTCCGGGAG	0.622																																					p.S459P												.	.	0			c.T1375C	5						.						109.0	117.0	114.0					5																	140568267		2203	4297	6500	140548451	SO:0001628	intergenic_variant	56127	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568267T>C		Somatic		Capture	Illumina HiSeq	Phase_I	140548451	NM_019119	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.622	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	broad.mit.edu	37	5	140569062	140569062	+	5'Flank	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140569062G>A	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662																																					p.A724T												.	.	0			c.G2170A	5						.						54.0	68.0	63.0					5																	140569062		2202	4297	6499	140549246	SO:0001631	upstream_gene_variant	56127	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569062G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	140549246	NM_019119	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	broad.mit.edu	37	5	140572253	140572253	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140572253C>A	ENST00000239446.4	+	1	312	c.128C>A	c.(127-129)tCc>tAc	p.S43Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	43	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S43Y(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAAAGGATCCTTTGTGGTC	0.493																																					p.S43Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128A	5						.						53.0	59.0	57.0					5																	140572253		2178	4291	6469	140552437	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.128C>A	5.37:g.140572253C>A	ENSP00000239446:p.Ser43Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	140552437	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006803	0.35415	.	.	ENSG00000120324	ENST00000239446	T	0.39592	1.07	3.35	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.63450	0.2512	M	0.81497	2.545	0.24338	N	0.99498	P	0.48911	0.917	P	0.60682	0.878	T	0.55879	-0.8071	9	0.45353	T	0.12	.	15.0182	0.71605	0.0:1.0:0.0:0.0	.	43	Q9UN67	PCDBA_HUMAN	Y	43	ENSP00000239446:S43Y	ENSP00000239446:S43Y	S	+	2	0	PCDHB10	140552437	0.621000	0.27077	0.820000	0.32676	0.673000	0.39480	4.603000	0.61105	1.925000	0.55765	0.549000	0.68633	TCC		0.493	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	broad.mit.edu	37	5	140572991	140572991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140572991G>A	ENST00000239446.4	+	1	1050	c.866G>A	c.(865-867)cGa>cAa	p.R289Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R289Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAATATTCGAACAACCTTT	0.358																																					p.R289Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G866A	5						.						68.0	74.0	72.0					5																	140572991		2202	4300	6502	140553175	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.866G>A	5.37:g.140572991G>A	ENSP00000239446:p.Arg289Gln	Somatic		Capture	Illumina HiSeq	Phase_I	140553175	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	0.649	-0.810120	0.02798	.	.	ENSG00000120324	ENST00000239446	T	0.01725	4.67	3.41	0.178	0.15058	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01287	0.0042	L	0.28556	0.865	0.09310	N	1	B	0.21381	0.055	B	0.22753	0.041	T	0.49624	-0.8920	9	0.18276	T	0.48	.	0.7678	0.01018	0.1993:0.1628:0.3461:0.2919	.	289	Q9UN67	PCDBA_HUMAN	Q	289	ENSP00000239446:R289Q	ENSP00000239446:R289Q	R	+	2	0	PCDHB10	140553175	0.000000	0.05858	0.110000	0.21437	0.659000	0.38960	-3.282000	0.00528	-0.086000	0.12550	-0.321000	0.08615	CGA		0.358	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB11	56125	broad.mit.edu	37	5	140579644	140579644	+	Silent	SNP	C	C	T	rs377046428		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140579644C>T	ENST00000354757.3	+	1	297	c.297C>T	c.(295-297)atC>atT	p.I99I	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I99I(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTTCCATCGAGCCTTGCG	0.453																																					p.I99I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	5						.	C		0,4406		0,0,2203	120.0	131.0	127.0		297	-5.6	0.0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDHB11	NM_018931.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		99/798	140579644	1,13005	2203	4300	6503	140559828	SO:0001819	synonymous_variant	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.297C>T	5.37:g.140579644C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140559828	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.453	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB11	56125	broad.mit.edu	37	5	140579990	140579990	+	Missense_Mutation	SNP	C	C	A	rs528395705	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140579990C>A	ENST00000354757.3	+	1	643	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L215M(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCTCTGCTCTGGATGGTGG	0.502																																					p.L215M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643A	5						.						78.0	80.0	79.0					5																	140579990		2203	4300	6503	140560174	SO:0001583	missense	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.643C>A	5.37:g.140579990C>A	ENSP00000346802:p.Leu215Met	Somatic		Capture	Illumina HiSeq	Phase_I	140560174	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712489	0.30322	.	.	ENSG00000197479	ENST00000354757	T	0.52057	0.68	2.7	-0.637	0.11504	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47469	0.1447	L	0.48642	1.525	0.09310	N	1	P	0.46912	0.886	P	0.57283	0.817	T	0.36915	-0.9728	9	0.48119	T	0.1	.	0.6725	0.00861	0.1565:0.2395:0.2342:0.3699	.	215	Q9Y5F2	PCDBB_HUMAN	M	215	ENSP00000346802:L215M	ENSP00000346802:L215M	L	+	1	2	PCDHB11	140560174	0.000000	0.05858	0.163000	0.22734	0.207000	0.24258	-4.721000	0.00194	-0.028000	0.13850	0.467000	0.42956	CTG		0.502	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB11	56125	broad.mit.edu	37	5	140580080	140580080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140580080G>A	ENST00000354757.3	+	1	733	c.733G>A	c.(733-735)Gct>Act	p.A245T	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	245					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A245T(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGAGCAGGCTTTTTATGA	0.488																																					p.A245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	5						.						169.0	171.0	170.0					5																	140580080		2203	4300	6503	140560264	SO:0001583	missense	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.733G>A	5.37:g.140580080G>A	ENSP00000346802:p.Ala245Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140560264	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	5.909	0.351867	0.11182	.	.	ENSG00000197479	ENST00000354757	T	0.01767	4.65	2.7	-4.62	0.03370	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00967	0.0032	N	0.10733	0.035	0.23174	N	0.998175	B	0.11235	0.004	B	0.17722	0.019	T	0.46569	-0.9182	9	0.41790	T	0.15	.	3.0315	0.06108	0.2118:0.1412:0.466:0.1811	.	245	Q9Y5F2	PCDBB_HUMAN	T	245	ENSP00000346802:A245T	ENSP00000346802:A245T	A	+	1	0	PCDHB11	140560264	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-6.564000	0.00061	-1.415000	0.02022	-0.373000	0.07131	GCT		0.488	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB11	56125	broad.mit.edu	37	5	140581249	140581249	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140581249C>T	ENST00000354757.3	+	1	1902	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D	PCDHB11_ENST00000536699.1_Silent_p.D269D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D634D(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCGGCCAAGC	0.697																																					p.D634D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	5						.						8.0	10.0	9.0					5																	140581249		1689	3497	5186	140561433	SO:0001819	synonymous_variant	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1902C>T	5.37:g.140581249C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140561433	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.697	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB12	56124	broad.mit.edu	37	5	140588928	140588928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140588928C>T	ENST00000239450.2	+	1	638	c.449C>T	c.(448-450)gCt>gTt	p.A150V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A150V(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTGGTGCTGTGTTCTTG	0.383																																					p.A150V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C449T	5						.						86.0	90.0	89.0					5																	140588928		2203	4300	6503	140569112	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.449C>T	5.37:g.140588928C>T	ENSP00000239450:p.Ala150Val	Somatic		Capture	Illumina HiSeq	Phase_I	140569112	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	5.345	0.249033	0.10130	.	.	ENSG00000120328	ENST00000239450	T	0.51071	0.72	4.25	3.37	0.38596	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41328	0.1154	L	0.58428	1.81	0.18873	N	0.999983	B	0.06786	0.001	B	0.14578	0.011	T	0.39143	-0.9628	9	0.54805	T	0.06	.	5.0967	0.14737	0.1659:0.6537:0.0:0.1805	.	150	Q9Y5F1	PCDBC_HUMAN	V	150	ENSP00000239450:A150V	ENSP00000239450:A150V	A	+	2	0	PCDHB12	140569112	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.961000	0.29267	0.901000	0.36495	0.561000	0.74099	GCT		0.383	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB12	56124	broad.mit.edu	37	5	140589058	140589058	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140589058G>A	ENST00000239450.2	+	1	768	c.579G>A	c.(577-579)gaG>gaA	p.E193E	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E193E(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACCCTGAGTTAGTTCTGG	0.468																																					p.E193E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G579A	5						.						64.0	65.0	64.0					5																	140589058		2203	4300	6503	140569242	SO:0001819	synonymous_variant	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.579G>A	5.37:g.140589058G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140569242	NM_018932	B4DDU1	Silent	SNP	ENST00000239450.2	37	CCDS4254.1																																																																																				0.468	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB13	56123	broad.mit.edu	37	5	140595783	140595783	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140595783G>A	ENST00000341948.4	+	1	2275	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	696					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S696S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCTTCGC	0.687																																					p.S696S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2088A	5						.						87.0	92.0	90.0					5																	140595783		2197	4288	6485	140575967	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2088G>A	5.37:g.140595783G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140575967	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB14	56122	broad.mit.edu	37	5	140604130	140604130	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140604130G>A	ENST00000239449.4	+	1	1053	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	PCDHB14_ENST00000515856.2_Silent_p.S198S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	351					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S351S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATATCGTCGATTACAAAGA	0.428																																					p.S351S	Ovarian(141;50 1831 27899 33809 37648)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1053A	5						.						87.0	95.0	92.0					5																	140604130		2203	4300	6503	140584314	SO:0001819	synonymous_variant	56122	exon1			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1053G>A	5.37:g.140604130G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140584314	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																				0.428	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
PCDHB15	56121	broad.mit.edu	37	5	140626087	140626087	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140626087C>T	ENST00000231173.3	+	1	941	c.941C>T	c.(940-942)tCg>tTg	p.S314L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S314L(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGTCTTCGTATGATCTA	0.403																																					p.S314L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C941T	5						.						113.0	115.0	114.0					5																	140626087		2202	4300	6502	140606271	SO:0001583	missense	56121	exon1			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.941C>T	5.37:g.140626087C>T	ENSP00000231173:p.Ser314Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140606271	NM_018935	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	3.246	-0.154232	0.06585	.	.	ENSG00000113248	ENST00000231173	T	0.53206	0.63	4.56	2.61	0.31194	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.35422	0.0931	L	0.43152	1.355	0.09310	N	1	B	0.23937	0.094	B	0.28139	0.086	T	0.22487	-1.0215	9	0.12103	T	0.63	.	6.8718	0.24125	0.3337:0.5735:0.0:0.0927	.	314	Q9Y5E8	PCDBF_HUMAN	L	314	ENSP00000231173:S314L	ENSP00000231173:S314L	S	+	2	0	PCDHB15	140606271	0.000000	0.05858	0.854000	0.33618	0.115000	0.19883	-1.322000	0.02695	2.255000	0.74692	0.491000	0.48974	TCG		0.403	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
SLC25A2	83884	broad.mit.edu	37	5	140682699	140682699	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140682699T>G	ENST00000239451.4	-	1	913	c.734A>C	c.(733-735)aAa>aCa	p.K245T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	245					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K245T(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TCCTGCCTGTTTCCCATACAT	0.408																																					p.K245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A734C	5						.						81.0	77.0	78.0					5																	140682699		2203	4300	6503	140662883	SO:0001583	missense	83884	exon1			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.734A>C	5.37:g.140682699T>G	ENSP00000239451:p.Lys245Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140662883	NM_031947	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509609	0.27036	.	.	ENSG00000120329	ENST00000239451	T	0.80480	-1.38	3.79	3.79	0.43588	Mitochondrial carrier domain (2);	0.108700	0.64402	U	0.000010	T	0.75019	0.3793	L	0.33485	1.01	0.58432	D	0.999994	B	0.33528	0.416	B	0.42163	0.378	T	0.74284	-0.3715	10	0.40728	T	0.16	-7.8299	11.1494	0.48449	0.0:0.0:0.0:1.0	.	245	Q9BXI2	ORNT2_HUMAN	T	245	ENSP00000239451:K245T	ENSP00000239451:K245T	K	-	2	0	SLC25A2	140662883	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	3.771000	0.55318	1.966000	0.57179	0.533000	0.62120	AAA		0.408	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947	
TAF7	6879	broad.mit.edu	37	5	140698684	140698684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140698684C>T	ENST00000313368.5	-	1	1646	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	310					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)	p.E310K(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGATTTTCCACTTTCATG	0.463																																					p.E310K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	5						.						131.0	117.0	121.0					5																	140698684		2203	4300	6503	140678868	SO:0001583	missense	6879	exon1			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.928G>A	5.37:g.140698684C>T	ENSP00000312709:p.Glu310Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140678868	NM_005642	B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590916	0.86851	.	.	ENSG00000178913	ENST00000313368	T	0.25414	1.8	4.3	4.3	0.51218	.	0.051029	0.85682	D	0.000000	T	0.50103	0.1596	M	0.76574	2.34	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	T	0.54990	-0.8210	10	0.72032	D	0.01	-16.8684	14.6781	0.68996	0.0:1.0:0.0:0.0	.	310	Q15545	TAF7_HUMAN	K	310	ENSP00000312709:E310K	ENSP00000312709:E310K	E	-	1	0	TAF7	140678868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.392000	0.81423	0.655000	0.94253	GAA		0.463	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642	
PCDHGA1	56114	broad.mit.edu	37	5	140710437	140710437	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140710437C>T	ENST00000517417.1	+	1	186	c.186C>T	c.(184-186)ggC>ggT	p.G62G	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.G62G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	62	Cadherin 1. {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)	p.G62G(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGATGGCGGAGTCCGCA	0.572																																					p.G62G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C186T	5						.						103.0	110.0	108.0					5																	140710437		2203	4300	6503	140690621	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.186C>T	5.37:g.140710437C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140690621	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.572	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA1	56114	broad.mit.edu	37	5	140710682	140710682	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140710682A>C	ENST00000517417.1	+	1	431	c.431A>C	c.(430-432)gAa>gCa	p.E144A	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E144A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	144	Cadherin 2. {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)	p.E144A(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGAATGAAATAACGACT	0.403																																					p.E144A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A431C	5						.						99.0	108.0	105.0					5																	140710682		2203	4299	6502	140690866	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.431A>C	5.37:g.140710682A>C	ENSP00000431083:p.Glu144Ala	Somatic		Capture	Illumina HiSeq	Phase_I	140690866	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694508	0.68386	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.76316	-1.01;-1.01	4.2	4.2	0.49525	Cadherin (3);Cadherin-like (1);	0.126926	0.34802	N	0.003678	D	0.93916	0.8053	H	0.99955	5.045	0.37653	D	0.922465	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	10	0.87932	D	0	.	13.4192	0.60987	1.0:0.0:0.0:0.0	.	144;144	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	A	144	ENSP00000431083:E144A;ENSP00000367345:E144A	ENSP00000367345:E144A	E	+	2	0	PCDHGA1	140690866	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.078000	0.94023	1.905000	0.55150	0.533000	0.62120	GAA		0.403	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA1	56114	broad.mit.edu	37	5	140712341	140712341	+	Missense_Mutation	SNP	C	C	T	rs140634036	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140712341C>T	ENST00000517417.1	+	1	2090	c.2090C>T	c.(2089-2091)gCg>gTg	p.A697V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A697V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	697					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A697V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGCGGCGGCCGCGGTC	0.672													N|||	6	0.00119808	0.0008	0.0014	5008	,	,		15339	0.004		0.0	False		,,,				2504	0.0				p.A697V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2090T	5						.	T	VAL/ALA,VAL/ALA	0,4406		0,0,2203	74.0	85.0	82.0		2090,2090	3.9	0.6	5	dbSNP_134	82	1,8593	816.2+/-406.9	0,1,4296	no	missense,missense	PCDHGA1	NM_018912.2,NM_031993.1	64,64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	697/932,697/824	140712341	1,12999	2203	4297	6500	140692525	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2090C>T	5.37:g.140712341C>T	ENSP00000431083:p.Ala697Val	Somatic		Capture	Illumina HiSeq	Phase_I	140692525	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	4.337	0.062044	0.08339	0.0	1.16E-4	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.44482	0.96;0.92	3.87	3.87	0.44632	.	0.000000	0.44483	N	0.000457	T	0.04497	0.0123	N	0.00002	-3.525	0.23416	N	0.99772	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	10	0.02654	T	1	.	7.9558	0.30042	0.0:0.0968:0.0:0.9032	.	697;697	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	697	ENSP00000431083:A697V;ENSP00000367345:A697V	ENSP00000367345:A697V	A	+	2	0	PCDHGA1	140692525	1.000000	0.71417	0.633000	0.29310	0.028000	0.11728	4.018000	0.57174	0.659000	0.30945	-0.352000	0.07741	GCG		0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu	37	5	140719086	140719086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140719086G>A	ENST00000394576.2	+	1	548	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	183	Cadherin 2. {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)	p.R183Q(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACGTGCGAAGGGGAGCT	0.552																																					p.R183Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G548A	5						.						90.0	87.0	88.0					5																	140719086		2203	4300	6503	140699270	SO:0001583	missense	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.548G>A	5.37:g.140719086G>A	ENSP00000378077:p.Arg183Gln	Somatic		Capture	Illumina HiSeq	Phase_I	140699270	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	0.020	-1.434696	0.01108	.	.	ENSG00000081853	ENST00000394576	T	0.20069	2.1	5.26	4.15	0.48705	Cadherin (4);Cadherin-like (1);	0.234251	0.21629	U	0.071510	T	0.05960	0.0155	N	0.02876	-0.465	0.09310	N	1	B;B	0.16396	0.007;0.017	B;B	0.11329	0.006;0.004	T	0.45234	-0.9275	10	0.02654	T	1	.	4.0955	0.09988	0.3265:0.0:0.6735:0.0	.	183;183	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	183	ENSP00000378077:R183Q	ENSP00000378077:R183Q	R	+	2	0	PCDHGA2	140699270	0.023000	0.18921	0.975000	0.42487	0.036000	0.12997	2.649000	0.46656	2.629000	0.89072	0.655000	0.94253	CGA		0.552	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA2	56113	broad.mit.edu	37	5	140719842	140719842	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140719842A>G	ENST00000394576.2	+	1	1304	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	435	Cadherin 4. {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)	p.D435G(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCACGGATGCTCACATT	0.527																																					p.D435G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1304G	5						.						85.0	88.0	87.0					5																	140719842		2203	4300	6503	140700026	SO:0001583	missense	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1304A>G	5.37:g.140719842A>G	ENSP00000378077:p.Asp435Gly	Somatic		Capture	Illumina HiSeq	Phase_I	140700026	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	0.409	-0.914198	0.02415	.	.	ENSG00000081853	ENST00000394576	T	0.01685	4.69	4.64	2.17	0.27698	Cadherin (5);Cadherin-like (1);	0.171732	0.26995	U	0.021460	T	0.01592	0.0051	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.15052	0.005;0.012	T	0.45483	-0.9258	10	0.54805	T	0.06	.	4.6906	0.12780	0.6072:0.1565:0.2363:0.0	.	435;435	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	G	435	ENSP00000378077:D435G	ENSP00000378077:D435G	D	+	2	0	PCDHGA2	140700026	0.000000	0.05858	0.106000	0.21319	0.039000	0.13416	-0.005000	0.12855	0.356000	0.24157	-0.466000	0.05196	GAT		0.527	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA2	56113	broad.mit.edu	37	5	140720426	140720426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140720426C>T	ENST00000394576.2	+	1	1888	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	630	Cadherin 6. {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)	p.R630*(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGAGCCCTGCT	0.687																																					p.R630X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1888T	5						.						36.0	44.0	41.0					5																	140720426		2201	4292	6493	140700610	SO:0001587	stop_gained	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1888C>T	5.37:g.140720426C>T	ENSP00000378077:p.Arg630*	Somatic		Capture	Illumina HiSeq	Phase_I	140700610	NM_032009	Q52LL6|Q9Y5D5	Nonsense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.052225	0.55218	.	.	ENSG00000081853	ENST00000394576	.	.	.	5.14	3.11	0.35812	.	0.000000	0.37483	U	0.002061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9024	0.79392	0.155:0.845:0.0:0.0	.	.	.	.	X	630	.	ENSP00000378077:R630X	R	+	1	2	PCDHGA2	140700610	0.971000	0.33674	0.049000	0.19019	0.093000	0.18481	2.563000	0.45922	0.487000	0.27698	0.485000	0.47835	CGA		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGB1	56104	broad.mit.edu	37	5	140730713	140730713	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140730713G>A	ENST00000523390.1	+	1	886	c.886G>A	c.(886-888)Gac>Aac	p.D296N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	296	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)	p.D296N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATACTGGCGACATCACAAC	0.453																																					p.D296N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G886A	5						.						129.0	129.0	129.0					5																	140730713		1947	4144	6091	140710897	SO:0001583	missense	56104	exon1			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.886G>A	5.37:g.140730713G>A	ENSP00000429273:p.Asp296Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140710897	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	6.278	0.419443	0.11928	.	.	ENSG00000254221	ENST00000523390	T	0.01705	4.68	5.43	3.6	0.41247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01627	0.0052	N	0.17674	0.51	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.13407	0.005;0.009	T	0.46638	-0.9177	9	0.59425	D	0.04	.	7.6688	0.28447	0.1443:0.0:0.7212:0.1345	.	296;296	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	296	ENSP00000429273:D296N	ENSP00000429273:D296N	D	+	1	0	PCDHGB1	140710897	0.000000	0.05858	0.019000	0.16419	0.338000	0.28826	0.855000	0.27805	0.734000	0.32515	0.563000	0.77884	GAC		0.453	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB2	56103	broad.mit.edu	37	5	140740020	140740020	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140740020C>T	ENST00000522605.1	+	1	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	106	Cadherin 1. {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)	p.F106F(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGGATTTCGATACTGTCG	0.383																																					p.F106F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C318T	5						.						80.0	81.0	81.0					5																	140740020		1848	4102	5950	140720204	SO:0001819	synonymous_variant	56103	exon1			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.318C>T	5.37:g.140740020C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140720204	NM_032096	Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	CCDS54924.1																																																																																				0.383	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGA6	56109	broad.mit.edu	37	5	140754024	140754024	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140754024A>G	ENST00000517434.1	+	1	374	c.374A>G	c.(373-375)gAc>gGc	p.D125G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	125	Cadherin 1. {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)	p.D125G(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATAGTGGACATTAATGAC	0.453																																					p.D125G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A374G	5						.						74.0	76.0	75.0					5																	140754024		1970	4186	6156	140734208	SO:0001583	missense	56109	exon1			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.374A>G	5.37:g.140754024A>G	ENSP00000429601:p.Asp125Gly	Somatic		Capture	Illumina HiSeq	Phase_I	140734208	NM_032086	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	18.59	3.656418	0.67586	.	.	ENSG00000253731	ENST00000517434	T	0.76968	-1.06	5.23	4.06	0.47325	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31747	U	0.007135	D	0.93187	0.7830	H	0.99659	4.685	0.36323	D	0.858397	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96535	0.9396	10	0.87932	D	0	.	12.6931	0.56988	0.8623:0.1377:0.0:0.0	.	125;125	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	G	125	ENSP00000429601:D125G	ENSP00000429601:D125G	D	+	2	0	PCDHGA6	140734208	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.257000	0.78362	1.085000	0.41206	0.533000	0.62120	GAC		0.453	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
PCDHGA7	56108	broad.mit.edu	37	5	140764119	140764119	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140764119C>T	ENST00000518325.1	+	1	1653	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	551	Cadherin 5. {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)	p.F551F(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGTTCGTGCTGGACC	0.577																																					p.F551F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1653T	5						.						86.0	99.0	95.0					5																	140764119		2193	4297	6490	140744303	SO:0001819	synonymous_variant	56108	exon1			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1653C>T	5.37:g.140764119C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140744303	NM_032087	B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.577	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA8	9708	broad.mit.edu	37	5	140772933	140772933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140772933G>T	ENST00000398604.2	+	1	553	c.553G>T	c.(553-555)Gga>Tga	p.G185*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	185	Cadherin 2. {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)	p.G185*(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAGACTGGAGACAATGG	0.617																																					p.G185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G553T	5						.						51.0	57.0	55.0					5																	140772933		2158	4286	6444	140753117	SO:0001587	stop_gained	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.553G>T	5.37:g.140772933G>T	ENSP00000381605:p.Gly185*	Somatic		Capture	Illumina HiSeq	Phase_I	140753117	NM_032088	A7MCZ4|O15039	Nonsense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	13.68	2.310575	0.40895	.	.	ENSG00000253767	ENST00000398604	.	.	.	5.41	1.6	0.23607	.	0.000000	0.30575	U	0.009339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	5.448	0.16546	0.2939:0.1357:0.5704:0.0	.	.	.	.	X	185	.	ENSP00000381605:G185X	G	+	1	0	PCDHGA8	140753117	0.000000	0.05858	0.528000	0.27938	0.279000	0.26890	-0.103000	0.10940	0.264000	0.21851	0.655000	0.94253	GGA		0.617	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGA8	9708	broad.mit.edu	37	5	140773888	140773888	+	Missense_Mutation	SNP	C	C	T	rs11575959	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140773888C>T	ENST00000398604.2	+	1	1508	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	503	Cadherin 5. {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)	p.S503L(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGTCCTCGTATATCTCC	0.567																																					p.S503L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1508T	5						.						48.0	56.0	54.0					5																	140773888		2167	4283	6450	140754072	SO:0001583	missense	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1508C>T	5.37:g.140773888C>T	ENSP00000381605:p.Ser503Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140754072	NM_032088	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.448369	0.43429	.	.	ENSG00000253767	ENST00000398604	T	0.51817	0.69	4.33	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.30639	U	0.009190	T	0.76962	0.4061	H	0.95437	3.67	0.39932	D	0.9743	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.933	D	0.86194	0.1614	10	0.87932	D	0	.	17.3525	0.87327	0.0:1.0:0.0:0.0	.	503;503	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	503	ENSP00000381605:S503L	ENSP00000381605:S503L	S	+	2	0	PCDHGA8	140754072	0.316000	0.24580	0.025000	0.17156	0.002000	0.02628	4.757000	0.62213	2.361000	0.80049	0.650000	0.86243	TCG		0.567	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGA8	9708	broad.mit.edu	37	5	140774266	140774266	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140774266C>T	ENST00000398604.2	+	1	1886	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	629	Cadherin 6. {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)	p.A629V(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.682																																					p.A629V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1886T	5						.						25.0	30.0	29.0					5																	140774266		2182	4246	6428	140754450	SO:0001583	missense	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1886C>T	5.37:g.140774266C>T	ENSP00000381605:p.Ala629Val	Somatic		Capture	Illumina HiSeq	Phase_I	140754450	NM_032088	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	8.801	0.932894	0.18131	.	.	ENSG00000253767	ENST00000398604	T	0.51071	0.72	5.02	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.682808	0.10879	U	0.624014	T	0.38241	0.1033	L	0.31065	0.9	0.09310	N	1	B;P	0.38992	0.355;0.653	B;B	0.36608	0.229;0.103	T	0.15665	-1.0429	10	0.44086	T	0.13	.	13.1649	0.59565	0.0:0.9222:0.0:0.0778	.	629;629	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	629	ENSP00000381605:A629V	ENSP00000381605:A629V	A	+	2	0	PCDHGA8	140754450	0.000000	0.05858	0.017000	0.16124	0.337000	0.28794	0.938000	0.28965	1.143000	0.42306	-0.145000	0.13849	GCG		0.682	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGB6	56100	broad.mit.edu	37	5	140788609	140788609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140788609C>A	ENST00000520790.1	+	1	840	c.840C>A	c.(838-840)taC>taA	p.Y280*	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	280	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)	p.Y280*(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAACTACTACTTCCGAAGCA	0.423																																					p.Y280X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C840A	5						.						73.0	74.0	74.0					5																	140788609		1915	4109	6024	140768793	SO:0001587	stop_gained	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.840C>A	5.37:g.140788609C>A	ENSP00000428603:p.Tyr280*	Somatic		Capture	Illumina HiSeq	Phase_I	140768793	NM_018926	Q9Y5C5	Nonsense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	-	24.1	4.497219	0.85069	.	.	ENSG00000253305	ENST00000520790	.	.	.	5.34	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	5.0826	0.14664	0.0:0.4537:0.1414:0.4049	.	.	.	.	X	280	.	ENSP00000428603:Y280X	Y	+	3	2	PCDHGB6	140768793	0.000000	0.05858	0.993000	0.49108	0.951000	0.60555	-0.759000	0.04761	0.218000	0.20820	0.467000	0.42956	TAC		0.423	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB6	56100	broad.mit.edu	37	5	140788781	140788781	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140788781C>A	ENST00000520790.1	+	1	1012	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	338	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)	p.L338I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAGAAATCCTTGATGAAAA	0.423																																					p.L338I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1012A	5						.						101.0	101.0	101.0					5																	140788781		1888	4116	6004	140768965	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1012C>A	5.37:g.140788781C>A	ENSP00000428603:p.Leu338Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140768965	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	-	8.995	0.978782	0.18812	.	.	ENSG00000253305	ENST00000520790	T	0.55413	0.52	5.33	2.16	0.27623	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.48978	0.1530	L	0.53729	1.69	0.09310	N	1	B;P	0.37101	0.299;0.582	B;B	0.40506	0.259;0.331	T	0.31916	-0.9926	9	0.30854	T	0.27	.	10.4351	0.44430	0.2036:0.6026:0.1938:0.0	.	338;338	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	I	338	ENSP00000428603:L338I	ENSP00000428603:L338I	L	+	1	0	PCDHGB6	140768965	0.000000	0.05858	0.026000	0.17262	0.816000	0.46133	-0.193000	0.09573	0.606000	0.29965	-0.515000	0.04445	CTT		0.423	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB6	56100	broad.mit.edu	37	5	140789634	140789634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140789634G>A	ENST00000520790.1	+	1	1865	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	622	Cadherin 6. {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)	p.R622H(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGCTGCGCACTGGGGAG	0.687																																					p.R622H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1865A	5						.						22.0	26.0	25.0					5																	140789634		2137	4255	6392	140769818	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1865G>A	5.37:g.140789634G>A	ENSP00000428603:p.Arg622His	Somatic		Capture	Illumina HiSeq	Phase_I	140769818	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	0.037	-1.303773	0.01353	.	.	ENSG00000253305	ENST00000520790	T	0.52526	0.66	4.99	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	N	0.02412	-0.56	0.09310	N	1	P;P	0.49961	0.93;0.839	P;B	0.54346	0.749;0.347	T	0.18147	-1.0346	9	0.02654	T	1	.	7.9792	0.30172	0.3131:0.0:0.6869:0.0	.	622;622	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	622	ENSP00000428603:R622H	ENSP00000428603:R622H	R	+	2	0	PCDHGB6	140769818	0.000000	0.05858	0.999000	0.59377	0.031000	0.12232	0.625000	0.24477	0.519000	0.28406	-0.251000	0.11542	CGC		0.687	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB6	56100	broad.mit.edu	37	5	140789916	140789916	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140789916G>A	ENST00000520790.1	+	1	2147	c.2147G>A	c.(2146-2148)cGa>cAa	p.R716Q	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	716					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R716Q(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGCCTGCGACGCTCTCTC	0.577																																					p.R716Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2147A	5						.						142.0	149.0	147.0					5																	140789916		2075	4216	6291	140770100	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2147G>A	5.37:g.140789916G>A	ENSP00000428603:p.Arg716Gln	Somatic		Capture	Illumina HiSeq	Phase_I	140770100	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	14.89	2.670362	0.47677	.	.	ENSG00000253305	ENST00000520790	T	0.13901	2.55	5.18	3.41	0.39046	.	.	.	.	.	T	0.28797	0.0714	L	0.55743	1.74	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.947;0.985	T	0.05037	-1.0910	9	0.49607	T	0.09	.	8.8022	0.34916	0.228:0.0:0.772:0.0	.	716;716	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	716	ENSP00000428603:R716Q	ENSP00000428603:R716Q	R	+	2	0	PCDHGB6	140770100	0.002000	0.14202	0.112000	0.21494	0.573000	0.36030	1.280000	0.33202	0.592000	0.29728	0.563000	0.77884	CGA		0.577	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGA10	56106	broad.mit.edu	37	5	140793053	140793053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140793053C>T	ENST00000398610.2	+	1	311	c.311C>T	c.(310-312)gCg>gTg	p.A104V	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	104	Cadherin 1. {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)	p.A104V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCGCGCGGTGCGTG	0.517																																					p.A104V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	5						.						67.0	81.0	76.0					5																	140793053		2141	4283	6424	140773237	SO:0001583	missense	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.311C>T	5.37:g.140793053C>T	ENSP00000381611:p.Ala104Val	Somatic		Capture	Illumina HiSeq	Phase_I	140773237	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.051130	0.36181	.	.	ENSG00000253846	ENST00000398610	T	0.28069	1.63	5.78	4.0	0.46444	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.24431	0.0592	L	0.45581	1.43	0.09310	N	1	B;B	0.27316	0.049;0.175	B;B	0.18561	0.005;0.022	T	0.16100	-1.0414	9	0.32370	T	0.25	.	7.6885	0.28554	0.3919:0.5335:0.0:0.0746	.	104;104	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	104	ENSP00000381611:A104V	ENSP00000381611:A104V	A	+	2	0	PCDHGA10	140773237	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.162000	0.10012	0.786000	0.33708	0.557000	0.71058	GCG		0.517	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGB7	56099	broad.mit.edu	37	5	140798684	140798684	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140798684G>A	ENST00000398594.2	+	1	1258	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	420	Cadherin 4. {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)	p.V420I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTACAACGTCACCATCGC	0.488																																					p.V420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1258A	5						.						40.0	46.0	44.0					5																	140798684		2133	4226	6359	140778868	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1258G>A	5.37:g.140798684G>A	ENSP00000381594:p.Val420Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140778868	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.451202	0.01080	.	.	ENSG00000254122	ENST00000398594	T	0.19105	2.17	5.74	-1.1	0.09872	Cadherin (4);Cadherin-like (1);	0.307617	0.17041	U	0.189315	T	0.07143	0.0181	N	0.03177	-0.4	0.09310	N	0.999996	B;B	0.26602	0.154;0.108	B;B	0.34418	0.182;0.075	T	0.40942	-0.9536	10	0.02654	T	1	.	6.8384	0.23949	0.5537:0.1262:0.32:0.0	.	420;420	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	420	ENSP00000381594:V420I	ENSP00000381594:V420I	V	+	1	0	PCDHGB7	140778868	0.001000	0.12720	0.328000	0.25416	0.679000	0.39708	0.050000	0.14120	-0.107000	0.12088	-0.339000	0.08088	GTC		0.488	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGA11	56105	broad.mit.edu	37	5	140803008	140803008	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140803008G>A	ENST00000398587.2	+	1	2247	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	738					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T738T(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGCCCACGTCACATTTTG	0.567																																					p.T738T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2214A	5						.						50.0	56.0	54.0					5																	140803008		2202	4299	6501	140783192	SO:0001819	synonymous_variant	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2214G>A	5.37:g.140803008G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140783192	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																				0.567	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PCDHGC4	56098	broad.mit.edu	37	5	140866864	140866864	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140866864C>T	ENST00000306593.1	+	1	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	708					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F708F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTCATTCGTGGCACTAC	0.527																																					p.F708F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	5						.						141.0	110.0	121.0					5																	140866864		2203	4300	6503	140847048	SO:0001819	synonymous_variant	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2124C>T	5.37:g.140866864C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140847048	NM_018928	Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																				0.527	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
PCDH12	51294	broad.mit.edu	37	5	141336689	141336689	+	Missense_Mutation	SNP	G	G	A	rs538237213	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:141336689G>A	ENST00000231484.3	-	1	1938	c.728C>T	c.(727-729)gCg>gTg	p.A243V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A243V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAAACGCAGGGCTATT	0.512													G|||	4	0.000798722	0.0	0.0	5008	,	,		21012	0.004		0.0	False		,,,				2504	0.0				p.A243V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C728T	5						.						92.0	91.0	91.0					5																	141336689		2203	4300	6503	141316873	SO:0001583	missense	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.728C>T	5.37:g.141336689G>A	ENSP00000231484:p.Ala243Val	Somatic		Capture	Illumina HiSeq	Phase_I	141316873	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.331	-0.956050	0.02267	.	.	ENSG00000113555	ENST00000231484	T	0.59083	0.29	5.32	2.95	0.34219	Cadherin (2);Cadherin-like (1);	0.401822	0.28290	N	0.015889	T	0.21387	0.0515	N	0.01410	-0.885	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	8.2203	0.31537	0.8358:0.0:0.1642:0.0	.	243	Q9NPG4	PCD12_HUMAN	V	243	ENSP00000231484:A243V	ENSP00000231484:A243V	A	-	2	0	PCDH12	141316873	0.570000	0.26651	0.674000	0.29902	0.929000	0.56500	4.233000	0.58651	0.476000	0.27440	-0.294000	0.09567	GCG		0.512	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
NDFIP1	80762	broad.mit.edu	37	5	141511397	141511397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:141511397G>T	ENST00000253814.4	+	2	558	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	30					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)	p.E30*(1)		large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTCTGGAGAACCTGAACA	0.393																																					p.E30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G88T	5						.						133.0	144.0	140.0					5																	141511397		2203	4300	6503	141491581	SO:0001587	stop_gained	80762	exon2			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.88G>T	5.37:g.141511397G>T	ENSP00000253814:p.Glu30*	Somatic		Capture	Illumina HiSeq	Phase_I	141491581	NM_030571	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Nonsense_Mutation	SNP	ENST00000253814.4	37	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	G	40	7.916378	0.98560	.	.	ENSG00000131507	ENST00000253814;ENST00000313129	.	.	.	5.74	3.91	0.45181	.	0.254112	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-7.2711	15.4432	0.75204	0.0:0.2631:0.7368:0.0	.	.	.	.	X	30	.	ENSP00000253814:E30X	E	+	1	0	NDFIP1	141491581	0.999000	0.42202	0.415000	0.26534	0.972000	0.66771	3.653000	0.54446	0.731000	0.32448	0.591000	0.81541	GAA		0.393	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571	
FGF1	2246	broad.mit.edu	37	5	141993589	141993589	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:141993589C>T	ENST00000359370.6	-	2	183	c.104G>A	c.(103-105)gGc>gAc	p.G35D	FGF1_ENST00000494579.1_Intron|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.G35D|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000360966.5_Missense_Mutation_p.G35D|FGF1_ENST00000337706.2_Missense_Mutation_p.G35D|FGF1_ENST00000378046.1_Missense_Mutation_p.G35D|FGF1_ENST00000407758.1_Missense_Mutation_p.G35D	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	35					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)	p.G35D(2)		large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	CAGGAAGTGGCCCCCGTTGCT	0.557																																					p.G35D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G104A	5						.						130.0	118.0	122.0					5																	141993589		2203	4300	6503	141973773	SO:0001583	missense	2246	exon3			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.104G>A	5.37:g.141993589C>T	ENSP00000352329:p.Gly35Asp	Somatic		Capture	Illumina HiSeq	Phase_I	141973773	NM_001144934	B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869900	0.91587	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000360966;ENST00000407758;ENST00000441680;ENST00000419524;ENST00000394496;ENST00000411960	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.84676	0.0714	10	0.87932	D	0	.	19.6414	0.95758	0.0:1.0:0.0:0.0	.	35;35;35;35	Q16089;A8K147;P05230-2;P05230	.;.;.;FGF1_HUMAN	D	35	ENSP00000352329:G35D;ENSP00000367285:G35D;ENSP00000338548:G35D;ENSP00000354231:G35D;ENSP00000383969:G35D;ENSP00000404742:G35D;ENSP00000396195:G35D;ENSP00000378005:G35D;ENSP00000399458:G35D	ENSP00000338548:G35D	G	-	2	0	FGF1	141973773	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	6.571000	0.74000	2.655000	0.90218	0.650000	0.86243	GGC		0.557	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800	
TRIO	7204	broad.mit.edu	37	5	14287144	14287144	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14287144A>C	ENST00000344204.4	+	4	536	c.512A>C	c.(511-513)aAt>aCt	p.N171T	TRIO_ENST00000537187.1_Missense_Mutation_p.N171T|TRIO_ENST00000509967.2_Missense_Mutation_p.N122T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	171	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N171T(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGAGGACTAATTTTGGCAGT	0.463																																					p.N171T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A512C	5						.						85.0	83.0	84.0					5																	14287144		2203	4300	6503	14340144	SO:0001583	missense	7204	exon4			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.512A>C	5.37:g.14287144A>C	ENSP00000339299:p.Asn171Thr	Somatic		Capture	Illumina HiSeq	Phase_I	14340144	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701485	0.68501	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	D;D;D	0.83591	-1.74;-1.74;-1.74	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	L	0.49126	1.545	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.957;0.992	D	0.89413	0.3704	10	0.62326	D	0.03	.	15.8659	0.79063	1.0:0.0:0.0:0.0	.	122;171	F5H228;O75962	.;TRIO_HUMAN	T	171;171;122	ENSP00000339299:N171T;ENSP00000446348:N171T;ENSP00000445592:N122T	ENSP00000339299:N171T	N	+	2	0	TRIO	14340144	1.000000	0.71417	0.977000	0.42913	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.528000	0.53228	AAT		0.463	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
TRIO	7204	broad.mit.edu	37	5	14336771	14336771	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14336771C>T	ENST00000344204.4	+	11	2005	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	TRIO_ENST00000537187.1_Missense_Mutation_p.R661W|TRIO_ENST00000509967.2_Missense_Mutation_p.R612W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	661					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R661W(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGATTTCGTTCGGCGTGTTGA	0.507																																					p.R661W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1981T	5						.						106.0	92.0	97.0					5																	14336771		2203	4300	6503	14389771	SO:0001583	missense	7204	exon11			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1981C>T	5.37:g.14336771C>T	ENSP00000339299:p.Arg661Trp	Somatic		Capture	Illumina HiSeq	Phase_I	14389771	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548605	0.65311	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52526	0.66;0.66;0.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.62196	-0.6905	10	0.72032	D	0.01	.	13.3676	0.60694	0.2639:0.7361:0.0:0.0	.	612;661;661	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	W	661;661;612;348	ENSP00000339299:R661W;ENSP00000446348:R661W;ENSP00000445592:R612W	ENSP00000339299:R661W	R	+	1	2	TRIO	14389771	0.966000	0.33281	0.940000	0.37924	0.995000	0.86356	2.370000	0.44240	2.548000	0.85928	0.650000	0.86243	CGG		0.507	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
NR3C1	2908	broad.mit.edu	37	5	142780379	142780379	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:142780379G>T	ENST00000343796.2	-	2	1019	c.26C>A	c.(25-27)cCt>cAt	p.P9H	NR3C1_ENST00000394464.2_Missense_Mutation_p.P9H|NR3C1_ENST00000394466.2_Missense_Mutation_p.P9H|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000503201.1_Missense_Mutation_p.P9H|NR3C1_ENST00000231509.3_Missense_Mutation_p.P9H|NR3C1_ENST00000415690.2_Missense_Mutation_p.P9H|NR3C1_ENST00000504572.1_Missense_Mutation_p.P9H|NR3C1_ENST00000424646.2_Missense_Mutation_p.P9H	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	9	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.P9H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TTCTCTACCAGGAGTTAATGA	0.413																																					p.P9H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C26A	5						.						49.0	49.0	49.0					5																	142780379		2203	4300	6503	142760572	SO:0001583	missense	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.26C>A	5.37:g.142780379G>T	ENSP00000343205:p.Pro9His	Somatic		Capture	Illumina HiSeq	Phase_I	142760572	NM_001018077	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381419	0.42207	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	D;D;D;D;D;D;D;D;T;T;T;T;T	0.84070	-1.61;-1.61;-1.57;-1.8;-1.61;-1.61;-1.61;-1.61;2.02;2.02;2.02;2.02;2.02	4.94	4.94	0.65067	.	2.637020	0.01171	N	0.006861	D	0.87935	0.6303	L	0.56769	1.78	0.80722	D	1	D;D;P	0.60575	0.988;0.97;0.938	P;P;P	0.51487	0.62;0.671;0.62	T	0.76233	-0.3034	10	0.56958	D	0.05	.	13.5348	0.61641	0.0773:0.0:0.9227:0.0	.	9;9;9	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	H	9	ENSP00000377977:P9H;ENSP00000343205:P9H;ENSP00000387672:P9H;ENSP00000405282:P9H;ENSP00000422518:P9H;ENSP00000377979:P9H;ENSP00000231509:P9H;ENSP00000427672:P9H;ENSP00000424747:P9H;ENSP00000425313:P9H;ENSP00000420856:P9H;ENSP00000426478:P9H;ENSP00000425374:P9H	ENSP00000231509:P9H	P	-	2	0	NR3C1	142760572	0.955000	0.32602	0.092000	0.20876	0.755000	0.42902	4.510000	0.60455	2.295000	0.77249	0.655000	0.94253	CCT		0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
TRIO	7204	broad.mit.edu	37	5	14477049	14477049	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14477049C>A	ENST00000344204.4	+	41	6154	c.6130C>A	c.(6130-6132)Cta>Ata	p.L2044I	TRIO_ENST00000537187.1_Missense_Mutation_p.L2044I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2044	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L2044I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAGAAAAACTAGGATCCCT	0.363																																					p.L2044I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6130A	5						.						117.0	110.0	112.0					5																	14477049		2203	4300	6503	14530049	SO:0001583	missense	7204	exon41			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6130C>A	5.37:g.14477049C>A	ENSP00000339299:p.Leu2044Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14530049	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022993	0.75275	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T;T	0.64618	-0.11;-0.11;0.0	5.39	3.6	0.41247	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	T	0.64034	0.2562	N	0.25380	0.74	0.48236	D	0.999618	D;D	0.63046	0.992;0.978	D;D	0.79108	0.969;0.992	T	0.65236	-0.6217	10	0.66056	D	0.02	.	7.6659	0.28430	0.0:0.6936:0.0:0.3064	.	2044;2044	O75962-5;O75962	.;TRIO_HUMAN	I	2044;2044;1731;124	ENSP00000339299:L2044I;ENSP00000446348:L2044I;ENSP00000426342:L1731I	ENSP00000339299:L2044I	L	+	1	2	TRIO	14530049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.365000	0.52335	1.267000	0.44247	0.585000	0.79938	CTA		0.363	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
PRELID2	153768	broad.mit.edu	37	5	145197617	145197617	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145197617C>T	ENST00000334744.4	-	5	296	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	PRELID2_ENST00000358004.2_Splice_Site_p.V70M|PRELID2_ENST00000394450.2_Splice_Site_p.V41M|PRELID2_ENST00000505416.1_Splice_Site_p.V70M|PRELID2_ENST00000511435.1_Splice_Site_p.V70M	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	82	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)	p.V82M(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAATGCTCACCTGTCCAACA	0.433																																					p.V41M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121A	5						.						73.0	64.0	67.0					5																	145197617		2203	4300	6503	145177810	SO:0001630	splice_region_variant	153768	exon5			AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.244-1G>A	5.37:g.145197617C>T		Somatic		Capture	Illumina HiSeq	Phase_I	145177810	NM_138492	G5EA01|Q96EQ3	Missense_Mutation	SNP	ENST00000334744.4	37	CCDS34262.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355275	0.41700	.	.	ENSG00000186314	ENST00000358004;ENST00000334744;ENST00000394450;ENST00000505416;ENST00000511435	T;T;T;T;T	0.49720	2.15;2.17;0.77;2.15;2.12	5.84	4.08	0.47627	PRELI/MSF1 (2);	0.348268	0.25372	N	0.031155	T	0.46619	0.1402	L	0.41236	1.265	0.36870	D	0.888879	P;B;P	0.48016	0.602;0.25;0.904	B;B;P	0.51866	0.398;0.186;0.682	T	0.53229	-0.8468	10	0.59425	D	0.04	-52.1006	6.7791	0.23636	0.142:0.7113:0.0:0.1466	.	70;70;82	D6RAB6;G5EA01;Q8N945	.;.;PRLD2_HUMAN	M	70;82;41;70;70	ENSP00000350694:V70M;ENSP00000335675:V82M;ENSP00000377965:V41M;ENSP00000424730:V70M;ENSP00000422789:V70M	ENSP00000335675:V82M	V	-	1	0	PRELID2	145177810	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	1.535000	0.36061	0.831000	0.34780	-0.781000	0.03364	GTG		0.433	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000372970.1	NM_182960	Missense_Mutation
LARS	51520	broad.mit.edu	37	5	145532781	145532781	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145532781C>T	ENST00000394434.2	-	13	1406	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	LARS_ENST00000545646.1_Missense_Mutation_p.A368T|LARS_ENST00000274562.9_Missense_Mutation_p.A387T|LARS_ENST00000510191.1_Missense_Mutation_p.A360T	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	414	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.A414T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCATATTTTGCTCGTAAGGCC	0.348																																					p.A414T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	5						.						88.0	88.0	88.0					5																	145532781		2203	4299	6502	145512974	SO:0001583	missense	51520	exon13			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1240G>A	5.37:g.145532781C>T	ENSP00000377954:p.Ala414Thr	Somatic		Capture	Illumina HiSeq	Phase_I	145512974	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891658	0.52014	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.2	4.32	0.51571	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.471231	0.23560	N	0.046878	T	0.22627	0.0546	N	0.17723	0.515	0.24671	N	0.993412	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13255	-1.0516	10	0.30078	T	0.28	-8.964	10.0904	0.42443	0.0:0.79:0.1363:0.0736	.	387;368;414	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	T	414;368;360;387	ENSP00000377954:A414T;ENSP00000437791:A368T;ENSP00000426005:A360T;ENSP00000274562:A387T	ENSP00000274562:A387T	A	-	1	0	LARS	145512974	0.848000	0.29623	0.969000	0.41365	0.985000	0.73830	1.265000	0.33027	1.277000	0.44412	0.650000	0.86243	GCA		0.348	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
TRIO	7204	broad.mit.edu	37	5	14504649	14504649	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14504649C>T	ENST00000344204.4	+	55	8583	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_ENST00000537187.1_Silent_p.V2677V|TRIO_ENST00000344135.5_Silent_p.V352V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2853V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587																																					p.V2853V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8559T	5						.						179.0	180.0	180.0					5																	14504649		2203	4300	6503	14557649	SO:0001819	synonymous_variant	7204	exon55			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8559C>T	5.37:g.14504649C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14557649	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
TRIO	7204	broad.mit.edu	37	5	14508315	14508315	+	Silent	SNP	C	C	T	rs200447498		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14508315C>T	ENST00000344204.4	+	57	9102	c.9078C>T	c.(9076-9078)ttC>ttT	p.F3026F	TRIO_ENST00000537187.1_Silent_p.F2850F|TRIO_ENST00000344135.5_Silent_p.F525F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3026	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F3026F(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAAGGAGTTCGTGTGCTTCC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19115	0.0		0.0	False		,,,				2504	0.0				p.F3026F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9078T	5						.						79.0	85.0	83.0					5																	14508315		2203	4300	6503	14561315	SO:0001819	synonymous_variant	7204	exon57			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.9078C>T	5.37:g.14508315C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14561315	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
LARS	51520	broad.mit.edu	37	5	145557224	145557224	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145557224C>A	ENST00000394434.2	-	2	177	c.11G>T	c.(10-12)aGa>aTa	p.R4I	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.R4I|LARS_ENST00000274562.9_Missense_Mutation_p.R4I|LARS_ENST00000510191.1_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	4					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R4I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGTTCCTTTTCTTTCCTATTG	0.373																																					p.R4I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11T	5						.						103.0	96.0	98.0					5																	145557224		2202	4299	6501	145537417	SO:0001583	missense	51520	exon2			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.11G>T	5.37:g.145557224C>A	ENSP00000377954:p.Arg4Ile	Somatic		Capture	Illumina HiSeq	Phase_I	145537417	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201580	0.94997	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000274562;ENST00000360930	T;T;T	0.64618	-0.11;-0.1;-0.08	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.64404	1.975	0.80722	D	1	D;P;P	0.57899	0.981;0.683;0.793	P;B;B	0.52217	0.693;0.391;0.439	T	0.73183	-0.4063	10	0.54805	T	0.06	.	19.1978	0.93696	0.0:1.0:0.0:0.0	.	4;4;4	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	I	4	ENSP00000377954:R4I;ENSP00000437791:R4I;ENSP00000274562:R4I	ENSP00000274562:R4I	R	-	2	0	LARS	145537417	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.743000	0.74848	2.618000	0.88619	0.655000	0.94253	AGA		0.373	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
RBM27	54439	broad.mit.edu	37	5	145641279	145641279	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145641279G>A	ENST00000265271.5	+	13	2266	c.2100G>A	c.(2098-2100)caG>caA	p.Q700Q	RBM27_ENST00000506502.1_Silent_p.Q645Q	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	700	Gln-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q700Q(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCTCACAGCAGCACCATC	0.517																																					p.Q700Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2100A	5						.						83.0	78.0	79.0					5																	145641279		1568	3582	5150	145621472	SO:0001819	synonymous_variant	54439	exon13			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2100G>A	5.37:g.145641279G>A		Somatic		Capture	Illumina HiSeq	Phase_I	145621472	NM_018989	Q8IYW9	Silent	SNP	ENST00000265271.5	37	CCDS43378.1																																																																																				0.517	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
POU4F3	5459	broad.mit.edu	37	5	145719823	145719823	+	Missense_Mutation	SNP	G	G	A	rs113824781		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145719823G>A	ENST00000230732.4	+	2	922	c.833G>A	c.(832-834)cGc>cAc	p.R278H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R278H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCGCAAACGCACGTCCATC	0.612																																					p.R278H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	5						.						54.0	52.0	53.0					5																	145719823		2203	4300	6503	145700016	SO:0001583	missense	5459	exon2			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.833G>A	5.37:g.145719823G>A	ENSP00000230732:p.Arg278His	Somatic		Capture	Illumina HiSeq	Phase_I	145700016	NM_002700	O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270121	0.80469	.	.	ENSG00000091010	ENST00000230732	D	0.99167	-5.51	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97244	0.9893	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:1.0:0.0	.	278	Q15319	PO4F3_HUMAN	H	278	ENSP00000230732:R278H	ENSP00000230732:R278H	R	+	2	0	POU4F3	145700016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.627000	0.98412	2.372000	0.80975	0.462000	0.41574	CGC		0.612	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
PPP2R2B	5521	broad.mit.edu	37	5	145980013	145980013	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145980013C>T	ENST00000394413.3	-	7	1371	c.801G>A	c.(799-801)gaG>gaA	p.E267E	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Silent_p.E256E|PPP2R2B_ENST00000394414.1_Silent_p.E333E|PPP2R2B_ENST00000336640.6_Silent_p.E270E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Silent_p.E267E|PPP2R2B_ENST00000508545.2_Silent_p.E256E|PPP2R2B_ENST00000394411.4_Silent_p.E267E|PPP2R2B_ENST00000504198.1_Silent_p.E273E|PPP2R2B_ENST00000394409.3_Silent_p.E325E|PPP2R2B_ENST00000453001.1_Silent_p.E267E			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	267					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E270E(1)|p.E325E(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCTTCCGGCTCTTCAAAAA	0.408																																					p.E267E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G801A	5						.						56.0	56.0	56.0					5																	145980013		2203	4300	6503	145960206	SO:0001819	synonymous_variant	5521	exon8			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.801G>A	5.37:g.145980013C>T		Somatic		Capture	Illumina HiSeq	Phase_I	145960206	NM_181675	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	CCDS4284.1																																																																																				0.408	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678	
DPYSL3	1809	broad.mit.edu	37	5	146780341	146780341	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:146780341C>T	ENST00000398514.3	-	10	1395	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	DPYSL3_ENST00000343218.5_Missense_Mutation_p.A456T|CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	342					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.A342T(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCAATTGCTTTCTGGGCA	0.562																																					p.A456T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1366A	5						.						109.0	115.0	113.0					5																	146780341		2199	4300	6499	146760534	SO:0001583	missense	1809	exon10			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1024G>A	5.37:g.146780341C>T	ENSP00000381526:p.Ala342Thr	Somatic		Capture	Illumina HiSeq	Phase_I	146760534	NM_001197294	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.999903|5.999903	0.97189|0.97189	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218|ENST00000520473	D;D|.	0.90261|.	-2.64;-2.64|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77491|0.77491	0.4138|0.4138	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.993;0.997|.	D;P|.	0.63957|.	0.92;0.887|.	T|T	0.75872|0.75872	-0.3164|-0.3164	10|5	0.87932|.	D|.	0|.	-15.3432|-15.3432	19.8184|19.8184	0.96581|0.96581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	456;342|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	T|N	342;456|40	ENSP00000381526:A342T;ENSP00000343690:A456T|.	ENSP00000343690:A456T|.	A|S	-|-	1|2	0|0	DPYSL3|DPYSL3	146760534|146760534	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.980000|0.980000	0.70556|0.70556	7.694000|7.694000	0.84235|0.84235	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.562	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
DPYSL3	1809	broad.mit.edu	37	5	146798019	146798019	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:146798019T>C	ENST00000398514.3	-	3	675	c.304A>G	c.(304-306)Acc>Gcc	p.T102A	DPYSL3_ENST00000343218.5_Missense_Mutation_p.T216A|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	102					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.T102A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCATGGTGGTGCCACCT	0.423																																					p.T216A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A646G	5						.						211.0	209.0	210.0					5																	146798019		2016	4186	6202	146778212	SO:0001583	missense	1809	exon3			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.304A>G	5.37:g.146798019T>C	ENSP00000381526:p.Thr102Ala	Somatic		Capture	Illumina HiSeq	Phase_I	146778212	NM_001197294	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	T	32	5.106000	0.94292	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.95412	-3.7;-3.7	6.17	6.17	0.99709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.77004	0.989;0.914	D	0.99239	1.0884	10	0.87932	D	0	-11.4887	16.8222	0.85835	0.0:0.0:0.0:1.0	.	216;102	B3SXQ8;Q14195	.;DPYL3_HUMAN	A	102;216	ENSP00000381526:T102A;ENSP00000343690:T216A	ENSP00000343690:T216A	T	-	1	0	DPYSL3	146778212	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	ACC		0.423	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
JAKMIP2	9832	broad.mit.edu	37	5	147011044	147011044	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147011044G>T	ENST00000265272.5	-	14	2274	c.1807C>A	c.(1807-1809)Ctc>Atc	p.L603I	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L582I|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L561I	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	603						Golgi apparatus (GO:0005794)		p.L603I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTTGGAGATTAAATGGA	0.358																																					p.L603I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1807A	5						.						88.0	84.0	85.0					5																	147011044		2203	4300	6503	146991237	SO:0001583	missense	9832	exon14			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1807C>A	5.37:g.147011044G>T	ENSP00000265272:p.Leu603Ile	Somatic		Capture	Illumina HiSeq	Phase_I	146991237	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451462	0.84209	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.26373	1.74;1.74;1.74	4.84	4.84	0.62591	.	0.085006	0.49305	D	0.000142	T	0.44685	0.1305	M	0.63843	1.955	0.58432	D	0.999998	D;P;P;P	0.61697	0.99;0.844;0.844;0.844	D;B;B;B	0.63597	0.916;0.259;0.259;0.259	T	0.22173	-1.0224	10	0.14656	T	0.56	.	17.9236	0.88975	0.0:0.0:1.0:0.0	.	561;603;582;603	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	I	582;603;561;582	ENSP00000421398:L582I;ENSP00000265272:L603I;ENSP00000328989:L561I	ENSP00000265272:L603I	L	-	1	0	JAKMIP2	146991237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.404000	0.66344	2.385000	0.81259	0.655000	0.94253	CTC		0.358	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
JAKMIP2	9832	broad.mit.edu	37	5	147019295	147019295	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147019295C>A	ENST00000265272.5	-	10	1897	c.1430G>T	c.(1429-1431)aGa>aTa	p.R477I	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R477I|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R435I	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	477						Golgi apparatus (GO:0005794)		p.R477I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCGAAATCTTAGTTCAGA	0.413																																					p.R477I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430T	5						.						207.0	208.0	208.0					5																	147019295		2203	4300	6503	146999488	SO:0001583	missense	9832	exon10			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1430G>T	5.37:g.147019295C>A	ENSP00000265272:p.Arg477Ile	Somatic		Capture	Illumina HiSeq	Phase_I	146999488	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328475	0.95733	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.31247	1.52;1.5;1.5	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.71870	0.975;0.975;0.975;0.975	T	0.59815	-0.7383	10	0.87932	D	0	.	20.1065	0.97896	0.0:1.0:0.0:0.0	.	435;477;477;477	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	I	477;477;435;477	ENSP00000421398:R477I;ENSP00000265272:R477I;ENSP00000328989:R435I	ENSP00000265272:R477I	R	-	2	0	JAKMIP2	146999488	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.262000	0.78410	2.836000	0.97738	0.655000	0.94253	AGA		0.413	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
OTULIN	90268	broad.mit.edu	37	5	14673797	14673797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:14673797G>T	ENST00000284274.4	+	2	277	c.199G>T	c.(199-201)Gaa>Taa	p.E67*		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		67					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.E67*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAAGGAGAAAGAATTGCTTAT	0.353																																					p.E67X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G199T	5						.						182.0	175.0	177.0					5																	14673797		1858	4101	5959	14726797	SO:0001587	stop_gained	90268	exon2																														ENST00000284274.4:c.199G>T	5.37:g.14673797G>T	ENSP00000284274:p.Glu67*	Somatic		Capture	Illumina HiSeq	Phase_I	14726797	NM_138348	D3DTD3|Q8NAS0|Q96IA3	Nonsense_Mutation	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084157	0.94100	.	.	ENSG00000154124	ENST00000284274	.	.	.	5.36	5.36	0.76844	.	0.398388	0.26574	N	0.023619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-16.6899	14.5847	0.68315	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000284274:E67X	E	+	1	0	FAM105B	14726797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.875000	0.56108	2.507000	0.84556	0.555000	0.69702	GAA		0.353	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		
JAKMIP2	9832	broad.mit.edu	37	5	147024525	147024525	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147024525T>G	ENST00000265272.5	-	6	1438	c.971A>C	c.(970-972)aAa>aCa	p.K324T	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K324T|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K282T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	324						Golgi apparatus (GO:0005794)		p.K324T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGAGGTTTACATTGCTT	0.478																																					p.K324T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971C	5						.						175.0	172.0	173.0					5																	147024525		2203	4300	6503	147004718	SO:0001583	missense	9832	exon6			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.971A>C	5.37:g.147024525T>G	ENSP00000265272:p.Lys324Thr	Somatic		Capture	Illumina HiSeq	Phase_I	147004718	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844362	0.91197	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82255	-1.59;-1.59;-1.59	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90167	0.6927	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	D	0.89747	0.3937	10	0.40728	T	0.16	.	15.9029	0.79397	0.0:0.0:0.0:1.0	.	282;324;324;324	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	T	324;324;282;324	ENSP00000421398:K324T;ENSP00000265272:K324T;ENSP00000328989:K282T	ENSP00000265272:K324T	K	-	2	0	JAKMIP2	147004718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.621000	0.83083	2.217000	0.71921	0.482000	0.46254	AAA		0.478	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
SPINK5	11005	broad.mit.edu	37	5	147474014	147474014	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147474014G>T	ENST00000256084.7	+	9	806	c.764G>T	c.(763-765)gGc>gTc	p.G255V	SPINK5_ENST00000398454.1_Missense_Mutation_p.G255V|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.G255V	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	255	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G255V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGCATGGCAACAAATGT	0.433																																					p.G255V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G764T	5						.						138.0	138.0	138.0					5																	147474014		1909	4114	6023	147454207	SO:0001583	missense	11005	exon9			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.764G>T	5.37:g.147474014G>T	ENSP00000256084:p.Gly255Val	Somatic		Capture	Illumina HiSeq	Phase_I	147454207	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661554	0.67700	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.04	4.16	0.48862	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.53938	D	0.000057	T	0.20210	0.0486	M	0.84082	2.675	0.51012	D	0.999903	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.979;0.999;0.998	T	0.00491	-1.1708	10	0.45353	T	0.12	-4.4485	9.6095	0.39654	0.0973:0.0:0.9027:0.0	.	236;255;255;255	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	V	255;255;236;255	ENSP00000381472:G255V;ENSP00000352936:G255V;ENSP00000421519:G236V;ENSP00000256084:G255V	ENSP00000256084:G255V	G	+	2	0	SPINK5	147454207	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.902000	0.39848	1.255000	0.44051	0.650000	0.86243	GGC		0.433	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
SPINK5	11005	broad.mit.edu	37	5	147477462	147477462	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147477462G>T	ENST00000256084.7	+	11	957	c.915G>T	c.(913-915)aaG>aaT	p.K305N	SPINK5_ENST00000398454.1_Missense_Mutation_p.K305N|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.K305N	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	305	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K305N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGGCAAAGAATGGAATAC	0.348																																					p.K305N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G915T	5						.						107.0	95.0	99.0					5																	147477462		1823	4089	5912	147457655	SO:0001583	missense	11005	exon11			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.915G>T	5.37:g.147477462G>T	ENSP00000256084:p.Lys305Asn	Somatic		Capture	Illumina HiSeq	Phase_I	147457655	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121394	0.56613	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.58	4.7	0.59300	Proteinase inhibitor I1, Kazal (1);	0.731842	0.12248	N	0.485886	T	0.21427	0.0516	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.69078	0.996;0.997;0.996;0.995	P;D;D;D	0.69142	0.889;0.962;0.917;0.948	T	0.12268	-1.0554	10	0.17832	T	0.49	-2.0796	11.0383	0.47816	0.0873:0.0:0.9127:0.0	.	286;305;305;305	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	N	305;305;286;305	ENSP00000381472:K305N;ENSP00000352936:K305N;ENSP00000421519:K286N;ENSP00000256084:K305N	ENSP00000256084:K305N	K	+	3	2	SPINK5	147457655	0.005000	0.15991	0.013000	0.15412	0.059000	0.15707	0.716000	0.25836	1.486000	0.48398	0.655000	0.94253	AAG		0.348	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
SPINK5	11005	broad.mit.edu	37	5	147477550	147477550	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147477550G>T	ENST00000256084.7	+	11	1045	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	SPINK5_ENST00000398454.1_Missense_Mutation_p.A335S|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.A335S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	335	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.		A -> V (in dbSNP:rs34482796). {ECO:0000269|PubMed:10419450, ECO:0000269|PubMed:16374478}.		anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A335S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTGTCAAGCCTACTTGTG	0.398																																					p.A335S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1003T	5						.						107.0	95.0	99.0					5																	147477550		1859	4104	5963	147457743	SO:0001583	missense	11005	exon11			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1003G>T	5.37:g.147477550G>T	ENSP00000256084:p.Ala335Ser	Somatic		Capture	Illumina HiSeq	Phase_I	147457743	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658788	0.67586	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.4	5.4	0.78164	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.283230	0.25386	N	0.031058	T	0.17492	0.0420	M	0.76328	2.33	0.22954	N	0.998511	B;B;P	0.40032	0.395;0.184;0.699	B;B;P	0.50860	0.279;0.4;0.652	T	0.08743	-1.0707	10	0.21014	T	0.42	-0.5071	15.0512	0.71872	0.0:0.0:1.0:0.0	.	335;335;335	Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;ISK5_HUMAN;.	S	335;335;316;335	ENSP00000381472:A335S;ENSP00000352936:A335S;ENSP00000421519:A316S;ENSP00000256084:A335S	ENSP00000256084:A335S	A	+	1	0	SPINK5	147457743	0.996000	0.38824	1.000000	0.80357	0.786000	0.44442	4.745000	0.62125	2.713000	0.92767	0.591000	0.81541	GCC		0.398	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
SPINK5	11005	broad.mit.edu	37	5	147498002	147498002	+	Silent	SNP	C	C	T	rs532661964		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147498002C>T	ENST00000256084.7	+	23	2157	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	SPINK5_ENST00000398454.1_Silent_p.D705D|SPINK5_ENST00000359874.3_Silent_p.D705D	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	705	Kazal-like 11. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D705D(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCAGGACGAATGTGCTG	0.413																																					p.D705D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2115T	5						.						118.0	118.0	118.0					5																	147498002		1883	4099	5982	147478195	SO:0001819	synonymous_variant	11005	exon23			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2115C>T	5.37:g.147498002C>T		Somatic		Capture	Illumina HiSeq	Phase_I	147478195	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																				0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
SPINK5	11005	broad.mit.edu	37	5	147505378	147505378	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147505378C>A	ENST00000256084.7	+	29	2874	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	SPINK5_ENST00000359874.3_Missense_Mutation_p.F974L	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	944	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F944L(1)|p.F974L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAAAGTTCTATACAAACA	0.443																																					p.F974L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2922A	5						.						259.0	252.0	254.0					5																	147505378		1929	4155	6084	147485571	SO:0001583	missense	11005	exon30			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2832C>A	5.37:g.147505378C>A	ENSP00000256084:p.Phe944Leu	Somatic		Capture	Illumina HiSeq	Phase_I	147485571	NM_001127698	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.207073	0.01568	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.04083	3.71;3.71	5.5	-11.0	0.00169	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	1.002810	0.08039	N	0.994805	T	0.01489	0.0048	N	0.04132	-0.27	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.43360	-0.9396	10	0.34782	T	0.22	0.6544	1.5327	0.02539	0.1133:0.2992:0.2228:0.3648	.	974;944	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	L	974;944	ENSP00000352936:F974L;ENSP00000256084:F944L	ENSP00000256084:F944L	F	+	3	2	SPINK5	147485571	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-3.032000	0.00637	-2.029000	0.00930	0.655000	0.94253	TTC		0.443	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
HTR4	3360	broad.mit.edu	37	5	147902879	147902879	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:147902879G>T	ENST00000377888.3	-	5	522	c.384C>A	c.(382-384)gtC>gtA	p.V128V	HTR4_ENST00000517929.1_Silent_p.V128V|HTR4_ENST00000521530.1_Silent_p.V128V|HTR4_ENST00000521735.1_Silent_p.V128V|HTR4_ENST00000362016.2_Silent_p.V128V|HTR4_ENST00000520514.1_Silent_p.V128V|HTR4_ENST00000314512.6_Silent_p.V128V|HTR4_ENST00000360693.3_Silent_p.V128V|HTR4_ENST00000354217.2_Silent_p.V128V	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	128					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.V128V(3)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	TGTTCCTATAGACCAAAGGCT	0.502																																					p.V128V	GBM(120;370 1604 14007 17804 41573)											.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C384A	5						.						56.0	51.0	53.0					5																	147902879		2203	4300	6503	147883072	SO:0001819	synonymous_variant	3360	exon4			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.384C>A	5.37:g.147902879G>T		Somatic		Capture	Illumina HiSeq	Phase_I	147883072	NM_001040169	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	CCDS4291.1																																																																																				0.502	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870	
SH3TC2	79628	broad.mit.edu	37	5	148407565	148407565	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:148407565G>A	ENST00000515425.1	-	11	1831	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	SH3TC2_ENST00000538184.1_Missense_Mutation_p.A124V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A462V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A570V|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	577					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.A462V(1)|p.A577V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTAGATGGCAGCCAAATT	0.552																																					p.A577V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1730T	5						.						92.0	86.0	88.0					5																	148407565		2203	4300	6503	148387758	SO:0001583	missense	79628	exon11			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1730C>T	5.37:g.148407565G>A	ENSP00000423660:p.Ala577Val	Somatic		Capture	Illumina HiSeq	Phase_I	148387758	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380290	0.82682	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.062767	0.64402	D	0.000007	D	0.84257	0.5432	L	0.57536	1.79	0.52501	D	0.999957	P;D;D;D	0.58620	0.952;0.983;0.983;0.983	P;P;P;P	0.56088	0.678;0.791;0.791;0.791	T	0.81947	-0.0700	10	0.40728	T	0.16	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	462;570;577;577	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	124;577;570;462	ENSP00000441427:A124V;ENSP00000423660:A577V;ENSP00000421860:A570V;ENSP00000377886:A462V	ENSP00000377886:A462V	A	-	2	0	SH3TC2	148387758	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.928000	0.87587	2.873000	0.98535	0.563000	0.77884	GCC		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
AFAP1L1	134265	broad.mit.edu	37	5	148695474	148695474	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:148695474C>A	ENST00000296721.4	+	10	1209	c.1111C>A	c.(1111-1113)Cac>Aac	p.H371N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.H371N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	371						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H371N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGTGATCACGGTAGGAG	0.617																																					p.H371N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1111A	5						.						62.0	57.0	58.0					5																	148695474		2203	4300	6503	148675667	SO:0001583	missense	134265	exon10			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1111C>A	5.37:g.148695474C>A	ENSP00000296721:p.His371Asn	Somatic		Capture	Illumina HiSeq	Phase_I	148675667	NM_152406	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710502	0.03230	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11277	2.79;2.79	5.72	4.67	0.58626	.	0.512237	0.22282	N	0.062115	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.32241	-0.9914	10	0.08837	T	0.75	-6.9743	13.58	0.61896	0.0:0.9141:0.0:0.0859	.	371;371	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	371	ENSP00000296721:H371N;ENSP00000424427:H371N	ENSP00000296721:H371N	H	+	1	0	AFAP1L1	148675667	0.692000	0.27719	0.943000	0.38184	0.006000	0.05464	1.494000	0.35616	2.706000	0.92434	0.561000	0.74099	CAC		0.617	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
ARHGEF37	389337	broad.mit.edu	37	5	149006714	149006714	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149006714A>G	ENST00000333677.6	+	11	1703	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	514	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T514A(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTACCAGGTGACAAGCAACAT	0.602																																					p.T514A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1540G	5						.						103.0	118.0	113.0					5																	149006714		2138	4236	6374	148986907	SO:0001583	missense	389337	exon11			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1540A>G	5.37:g.149006714A>G	ENSP00000328083:p.Thr514Ala	Somatic		Capture	Illumina HiSeq	Phase_I	148986907	NM_001001669	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635928	0.67130	.	.	ENSG00000183111	ENST00000333677	T	0.08102	3.13	5.39	4.2	0.49525	Src homology-3 domain (2);Variant SH3 (1);	0.214863	0.47093	D	0.000260	T	0.13157	0.0319	M	0.81802	2.56	0.40265	D	0.978224	P	0.44946	0.846	B	0.42625	0.393	T	0.16660	-1.0395	10	0.12430	T	0.62	.	11.5715	0.50836	0.8664:0.0:0.0:0.1336	.	514	A1IGU5	ARH37_HUMAN	A	514	ENSP00000328083:T514A	ENSP00000328083:T514A	T	+	1	0	ARHGEF37	148986907	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	6.259000	0.72494	0.842000	0.35045	0.459000	0.35465	ACA		0.602	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669	
PDE6A	5145	broad.mit.edu	37	5	149278950	149278950	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149278950C>T	ENST00000255266.5	-	9	1370	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	417	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E417E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CCATGAGCGTCTCATCCATTT	0.493																																					p.E417E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	5						.						140.0	130.0	134.0					5																	149278950		2203	4300	6503	149259143	SO:0001819	synonymous_variant	5145	exon9				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1251G>A	5.37:g.149278950C>T		Somatic		Capture	Illumina HiSeq	Phase_I	149259143	NM_000440	Q0P638	Silent	SNP	ENST00000255266.5	37	CCDS4299.1																																																																																				0.493	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
PDE6A	5145	broad.mit.edu	37	5	149314137	149314137	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149314137C>A	ENST00000255266.5	-	2	738	c.619G>T	c.(619-621)Gat>Tat	p.D207Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	207	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.D207Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	ACCTCTTCATCTCTCTTGGTG	0.473																																					p.D207Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G619T	5						.						149.0	130.0	136.0					5																	149314137		2203	4300	6503	149294330	SO:0001583	missense	5145	exon2				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.619G>T	5.37:g.149314137C>A	ENSP00000255266:p.Asp207Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149294330	NM_000440	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447126	0.63178	.	.	ENSG00000132915	ENST00000255266	T	0.79749	-1.3	5.99	5.99	0.97316	GAF (2);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94414	0.7634	10	0.87932	D	0	.	17.9715	0.89115	0.0:1.0:0.0:0.0	.	207	P16499	PDE6A_HUMAN	Y	207	ENSP00000255266:D207Y	ENSP00000255266:D207Y	D	-	1	0	PDE6A	149294330	1.000000	0.71417	0.918000	0.36340	0.171000	0.22731	7.800000	0.85949	2.840000	0.97914	0.655000	0.94253	GAT		0.473	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
PDE6A	5145	broad.mit.edu	37	5	149324193	149324193	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149324193G>A	ENST00000255266.5	-	1	163	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	15					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.S15L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCCAATATTCGAGTCCAGGAA	0.577																																					p.S15L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	5						.						45.0	39.0	41.0					5																	149324193		2203	4300	6503	149304386	SO:0001583	missense	5145	exon1				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.44C>T	5.37:g.149324193G>A	ENSP00000255266:p.Ser15Leu	Somatic		Capture	Illumina HiSeq	Phase_I	149304386	NM_000440	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215956	0.39201	.	.	ENSG00000132915	ENST00000255266	T	0.62364	0.03	5.68	5.68	0.88126	.	0.302356	0.31784	N	0.007079	T	0.55369	0.1916	L	0.60455	1.87	0.32771	N	0.503773	B	0.28512	0.214	B	0.23716	0.048	T	0.61262	-0.7098	10	0.22706	T	0.39	.	12.2461	0.54571	0.0:0.0:0.8301:0.1699	.	15	P16499	PDE6A_HUMAN	L	15	ENSP00000255266:S15L	ENSP00000255266:S15L	S	-	2	0	PDE6A	149304386	0.694000	0.27738	0.959000	0.39883	0.726000	0.41606	1.769000	0.38522	2.679000	0.91253	0.561000	0.74099	TCG		0.577	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
SLC26A2	1836	broad.mit.edu	37	5	149357473	149357473	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149357473A>T	ENST00000286298.4	+	2	526	c.258A>T	c.(256-258)aaA>aaT	p.K86N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	86					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.K86N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAAGCCAAAAATATGATTT	0.403																																					p.K86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A258T	5						.						86.0	87.0	87.0					5																	149357473		2203	4300	6503	149337666	SO:0001583	missense	1836	exon2			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.258A>T	5.37:g.149357473A>T	ENSP00000286298:p.Lys86Asn	Somatic		Capture	Illumina HiSeq	Phase_I	149337666	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160953	0.57368	.	.	ENSG00000155850	ENST00000286298	D	0.94613	-3.47	5.63	3.24	0.37175	.	0.086238	0.85682	D	0.000000	D	0.93374	0.7887	M	0.66939	2.045	0.27284	N	0.958037	P	0.45044	0.849	P	0.47346	0.544	D	0.86160	0.1593	10	0.28530	T	0.3	.	9.6448	0.39861	0.8587:0.0:0.1413:0.0	.	86	P50443	S26A2_HUMAN	N	86	ENSP00000286298:K86N	ENSP00000286298:K86N	K	+	3	2	SLC26A2	149337666	1.000000	0.71417	0.386000	0.26170	0.715000	0.41141	2.664000	0.46783	0.420000	0.25954	0.533000	0.62120	AAA		0.403	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
SLC26A2	1836	broad.mit.edu	37	5	149357787	149357787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149357787C>T	ENST00000286298.4	+	2	840	c.572C>T	c.(571-573)gCt>gTt	p.A191V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	191					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.A191V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCCCATAGTGCTCCTTCCTTA	0.428																																					p.A191V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572T	5						.						152.0	138.0	142.0					5																	149357787		2203	4300	6503	149337980	SO:0001583	missense	1836	exon2			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.572C>T	5.37:g.149357787C>T	ENSP00000286298:p.Ala191Val	Somatic		Capture	Illumina HiSeq	Phase_I	149337980	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798950	0.02841	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.95238	-3.29;-3.65	4.98	0.153	0.14897	.	1.246420	0.05280	N	0.519244	D	0.87350	0.6155	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72937	-0.4140	10	0.23302	T	0.38	.	0.8925	0.01257	0.3099:0.3065:0.1033:0.2802	.	191	P50443	S26A2_HUMAN	V	191;82	ENSP00000286298:A191V;ENSP00000426053:A82V	ENSP00000286298:A191V	A	+	2	0	SLC26A2	149337980	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.042000	0.12063	0.144000	0.18951	-0.251000	0.11542	GCT		0.428	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
SLC26A2	1836	broad.mit.edu	37	5	149360042	149360042	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149360042A>G	ENST00000286298.4	+	3	1154	c.886A>G	c.(886-888)Aac>Gac	p.N296D		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	296					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N296D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTCTTCAGAAACATCCATAA	0.433																																					p.N296D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A886G	5						.						158.0	145.0	149.0					5																	149360042		2203	4300	6503	149340235	SO:0001583	missense	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.886A>G	5.37:g.149360042A>G	ENSP00000286298:p.Asn296Asp	Somatic		Capture	Illumina HiSeq	Phase_I	149340235	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382515	0.61845	.	.	ENSG00000155850	ENST00000286298	D	0.93307	-3.2	5.47	5.47	0.80525	Sulphate transporter (1);	0.042714	0.85682	D	0.000000	D	0.96216	0.8766	M	0.77406	2.37	0.44085	D	0.996844	D	0.60160	0.987	D	0.68039	0.955	D	0.95924	0.8933	10	0.44086	T	0.13	.	15.6019	0.76631	1.0:0.0:0.0:0.0	.	296	P50443	S26A2_HUMAN	D	296	ENSP00000286298:N296D	ENSP00000286298:N296D	N	+	1	0	SLC26A2	149340235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.306000	0.78905	2.081000	0.62600	0.472000	0.43445	AAC		0.433	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
SLC26A2	1836	broad.mit.edu	37	5	149361317	149361317	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149361317G>A	ENST00000286298.4	+	3	2429	c.2161G>A	c.(2161-2163)Gta>Ata	p.V721I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	721					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.V721I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGCAGAAGTATCTAAAAA	0.383																																					p.V721I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2161A	5						.						56.0	62.0	60.0					5																	149361317		2203	4299	6502	149341510	SO:0001583	missense	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.2161G>A	5.37:g.149361317G>A	ENSP00000286298:p.Val721Ile	Somatic		Capture	Illumina HiSeq	Phase_I	149341510	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	3.465	-0.109241	0.06924	.	.	ENSG00000155850	ENST00000286298	D	0.93488	-3.23	5.72	5.72	0.89469	.	0.759418	0.13074	N	0.415869	D	0.86167	0.5868	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.73017	-0.4115	10	0.29301	T	0.29	.	15.1275	0.72494	0.0:0.0:0.8579:0.1421	.	721	P50443	S26A2_HUMAN	I	721	ENSP00000286298:V721I	ENSP00000286298:V721I	V	+	1	0	SLC26A2	149341510	0.102000	0.21896	0.132000	0.22025	0.247000	0.25773	1.785000	0.38684	2.705000	0.92388	0.655000	0.94253	GTA		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
CSF1R	1436	broad.mit.edu	37	5	149452867	149452867	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149452867T>C	ENST00000286301.3	-	7	1370	c.1079A>G	c.(1078-1080)tAc>tGc	p.Y360C	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	360	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.Y360C(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTACCTGTATGTGTCCTT	0.547																																					p.Y360C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1079G	5						.						241.0	210.0	221.0					5																	149452867		2203	4300	6503	149433060	SO:0001583	missense	1436	exon7			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1079A>G	5.37:g.149452867T>C	ENSP00000286301:p.Tyr360Cys	Somatic		Capture	Illumina HiSeq	Phase_I	149433060	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522892	0.44866	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.27720	1.65	4.81	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.156867	0.29972	N	0.010727	T	0.48624	0.1510	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69142	0.96;0.962	T	0.44952	-0.9294	10	0.45353	T	0.12	.	10.7667	0.46297	0.0:0.0:0.0:1.0	.	212;360	B4E2Y8;P07333	.;CSF1R_HUMAN	C	360;212	ENSP00000286301:Y360C	ENSP00000286301:Y360C	Y	-	2	0	CSF1R	149433060	1.000000	0.71417	0.984000	0.44739	0.300000	0.27592	2.190000	0.42630	1.808000	0.52836	0.533000	0.62120	TAC		0.547	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
PDGFRB	5159	broad.mit.edu	37	5	149514543	149514543	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149514543T>C	ENST00000261799.4	-	4	870	c.401A>G	c.(400-402)gAa>gGa	p.E134G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	134	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.E134G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGAATAGTTCCTCGGCATC	0.522			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.E134G			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A401G	5						.						99.0	102.0	101.0					5																	149514543		2203	4300	6503	149494736	SO:0001583	missense	5159	exon4			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.401A>G	5.37:g.149514543T>C	ENSP00000261799:p.Glu134Gly	Somatic		Capture	Illumina HiSeq	Phase_I	149494736	NM_002609	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.691995	0.68271	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.39592	1.07;1.07;1.07	5.6	5.6	0.85130	Immunoglobulin-like fold (1);	0.386872	0.22696	N	0.056754	T	0.37839	0.1018	L	0.58101	1.795	0.42043	D	0.991087	B;P	0.47762	0.096;0.9	B;B	0.33620	0.053;0.167	T	0.46005	-0.9222	10	0.56958	D	0.05	.	15.7743	0.78198	0.0:0.0:0.0:1.0	.	134;134	B5A957;P09619	.;PGFRB_HUMAN	G	134;70;134	ENSP00000261799:E134G;ENSP00000429218:E70G;ENSP00000430715:E134G	ENSP00000261799:E134G	E	-	2	0	PDGFRB	149494736	1.000000	0.71417	0.848000	0.33437	0.837000	0.47467	5.673000	0.68109	2.136000	0.66102	0.533000	0.62120	GAA		0.522	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
CAMK2A	815	broad.mit.edu	37	5	149602593	149602593	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149602593G>A	ENST00000348628.6	-	17	2057	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	CAMK2A_ENST00000398376.3_Silent_p.I475I|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	464					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.I475I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGACGATCTGCCATT	0.632																																					p.I475I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1425T	5						.						71.0	83.0	79.0					5																	149602593		2183	4293	6476	149582786	SO:0001819	synonymous_variant	815	exon18			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1392C>T	5.37:g.149602593G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149582786	NM_015981	Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	CCDS43386.1																																																																																				0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981	
SYNPO	11346	broad.mit.edu	37	5	150028806	150028806	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150028806G>T	ENST00000394243.1	+	3	2075	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	SYNPO_ENST00000519664.1_Missense_Mutation_p.E323D|SYNPO_ENST00000522122.1_Missense_Mutation_p.E567D|SYNPO_ENST00000307662.4_Missense_Mutation_p.E323D	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	567					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.E323D(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTACACTGAGACCTTGTCCA	0.617																																					p.E323D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	5						.						65.0	71.0	69.0					5																	150028806		2203	4300	6503	150008999	SO:0001583	missense	11346	exon2			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1701G>T	5.37:g.150028806G>T	ENSP00000377789:p.Glu567Asp	Somatic		Capture	Illumina HiSeq	Phase_I	150008999	NM_007286	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951876	0.53293	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.25912	1.77;1.77;1.77	5.18	4.31	0.51392	.	0.000000	0.56097	D	0.000021	T	0.34978	0.0916	L	0.32530	0.975	0.38985	D	0.95903	D;D	0.76494	0.998;0.999	D;D	0.71414	0.941;0.973	T	0.18366	-1.0339	10	0.56958	D	0.05	-25.8847	8.3636	0.32374	0.2409:0.0:0.7591:0.0	.	323;567	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	D	567;567;323;323	ENSP00000377789:E567D;ENSP00000428378:E567D;ENSP00000429268:E323D	ENSP00000302139:E323D	E	+	3	2	SYNPO	150008999	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	0.548000	0.23314	1.177000	0.42855	0.561000	0.74099	GAG		0.617	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286	
ANXA6	309	broad.mit.edu	37	5	150501738	150501738	+	Silent	SNP	G	G	A	rs372417182		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150501738G>A	ENST00000354546.5	-	17	1544	c.1317C>T	c.(1315-1317)taC>taT	p.Y439Y	ANXA6_ENST00000521512.1_Silent_p.Y232Y|ANXA6_ENST00000356496.5_Silent_p.Y439Y|ANXA6_ENST00000523714.1_Silent_p.Y407Y|ANXA6_ENST00000377751.5_Silent_p.Y96Y	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	439					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.Y439Y(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTGGCATCGTAATGGGCCG	0.557																																					p.Y439Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1317T	5						.	G	,	0,4090		0,0,2045	67.0	69.0	68.0		1317,1221	-9.6	0.3	5		68	1,8427		0,1,4213	no	coding-synonymous,coding-synonymous	ANXA6	NM_001155.4,NM_001193544.1	,	0,1,6258	AA,AG,GG		0.0119,0.0,0.0080	,	439/674,407/642	150501738	1,12517	2045	4214	6259	150481931	SO:0001819	synonymous_variant	309	exon17			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1317C>T	5.37:g.150501738G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150481931	NM_001155	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																				0.557	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	
ANXA6	309	broad.mit.edu	37	5	150509049	150509049	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150509049G>T	ENST00000354546.5	-	12	1064	c.837C>A	c.(835-837)gtC>gtA	p.V279V	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Silent_p.V279V|ANXA6_ENST00000523714.1_Silent_p.V247V|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	279					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.V279V(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTACGGGAGACCATGATGC	0.552																																					p.V279V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837A	5						.						60.0	60.0	60.0					5																	150509049		2000	4161	6161	150489242	SO:0001819	synonymous_variant	309	exon12			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.837C>A	5.37:g.150509049G>T		Somatic		Capture	Illumina HiSeq	Phase_I	150489242	NM_001155	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																				0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	
SLC36A3	285641	broad.mit.edu	37	5	150657119	150657119	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150657119G>A	ENST00000335230.3	-	10	1659	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	SLC36A3_ENST00000377713.3_Silent_p.I457I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	416						integral component of membrane (GO:0016021)		p.I416I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGATGACGATCTCCAGGA	0.542																																					p.I457I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	5						.						97.0	87.0	90.0					5																	150657119		2203	4300	6503	150637312	SO:0001819	synonymous_variant	285641	exon11			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1248C>T	5.37:g.150657119G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150637312	NM_001145017	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	CCDS4314.1																																																																																				0.542	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774	
FAT2	2196	broad.mit.edu	37	5	150891851	150891851	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150891851G>C	ENST00000261800.5	-	20	11792	c.11780C>G	c.(11779-11781)gCc>gGc	p.A3927G	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3927	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3927G(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCAGGGGCCAGCAGATC	0.587																																					p.A3927G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11780G	5						.						68.0	65.0	66.0					5																	150891851		2203	4300	6503	150872044	SO:0001583	missense	2196	exon20			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11780C>G	5.37:g.150891851G>C	ENSP00000261800:p.Ala3927Gly	Somatic		Capture	Illumina HiSeq	Phase_I	150872044	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	2.086	-0.409586	0.04799	.	.	ENSG00000086570	ENST00000261800	T	0.71222	-0.55	4.63	-9.26	0.00662	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	1.948520	0.02703	N	0.111947	T	0.41328	0.1154	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39187	-0.9626	10	0.18710	T	0.47	.	12.1936	0.54284	0.1324:0.2665:0.6012:0.0	.	3927;1032	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	G	3927	ENSP00000261800:A3927G	ENSP00000261800:A3927G	A	-	2	0	FAT2	150872044	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.642000	0.05427	-2.139000	0.00807	-1.170000	0.01741	GCC		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150930189	150930189	+	Missense_Mutation	SNP	G	G	A	rs556459301		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150930189G>A	ENST00000261800.5	-	7	4552	c.4540C>T	c.(4540-4542)Ctc>Ttc	p.L1514F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1514	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1514F(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGAGCCGAGGTCCAATTTT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21382	0.0		0.0	False		,,,				2504	0.001				p.L1514F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4540T	5						.						94.0	87.0	89.0					5																	150930189		2203	4300	6503	150910382	SO:0001583	missense	2196	exon7			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4540C>T	5.37:g.150930189G>A	ENSP00000261800:p.Leu1514Phe	Somatic		Capture	Illumina HiSeq	Phase_I	150910382	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.597	-0.830506	0.02734	.	.	ENSG00000086570	ENST00000261800	T	0.51071	0.72	5.23	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.362916	0.20546	N	0.090206	T	0.29914	0.0748	L	0.29908	0.895	0.29506	N	0.854592	B	0.22080	0.064	B	0.22880	0.042	T	0.11155	-1.0599	10	0.13470	T	0.59	.	7.5438	0.27755	0.1373:0.0:0.6924:0.1703	.	1514	Q9NYQ8	FAT2_HUMAN	F	1514	ENSP00000261800:L1514F	ENSP00000261800:L1514F	L	-	1	0	FAT2	150910382	1.000000	0.71417	0.980000	0.43619	0.021000	0.10359	3.138000	0.50570	2.425000	0.82216	0.650000	0.86243	CTC		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150946747	150946747	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:150946747C>T	ENST00000261800.5	-	1	1758	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	582	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S582S(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGTCATTATCGATTTCCCTA	0.403																																					p.S582S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1746A	5						.						85.0	88.0	87.0					5																	150946747		2203	4300	6503	150926940	SO:0001819	synonymous_variant	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1746G>A	5.37:g.150946747C>T		Somatic		Capture	Illumina HiSeq	Phase_I	150926940	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GLRA1	2741	broad.mit.edu	37	5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T	rs561848502		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:151239373C>T	ENST00000455880.2	-	4	735	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000274576.4_Missense_Mutation_p.R150Q			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	150					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.R150Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19631	0.001		0.0	False		,,,				2504	0.0				p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	5						.						167.0	143.0	151.0					5																	151239373		2203	4300	6503	151219566	SO:0001583	missense	2741	exon4				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.449G>A	5.37:g.151239373C>T	ENSP00000411593:p.Arg150Gln	Somatic		Capture	Illumina HiSeq	Phase_I	151219566	NM_000171	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055686	0.55325	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.77358	-1.09;-1.09;-1.09	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051373	0.85682	D	0.000000	T	0.66499	0.2795	N	0.21448	0.665	0.37418	D	0.913535	P;P;P	0.45240	0.854;0.683;0.701	B;B;B	0.43658	0.426;0.212;0.3	T	0.69363	-0.5165	10	0.34782	T	0.22	.	10.2814	0.43541	0.0:0.8533:0.0:0.1467	.	150;67;150	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	Q	150;150;67	ENSP00000274576:R150Q;ENSP00000411593:R150Q;ENSP00000445913:R67Q	ENSP00000274576:R150Q	R	-	2	0	GLRA1	151219566	0.996000	0.38824	0.988000	0.46212	0.994000	0.84299	2.991000	0.49409	2.746000	0.94184	0.655000	0.94253	CGG		0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
NMUR2	56923	broad.mit.edu	37	5	151784617	151784617	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:151784617C>A	ENST00000255262.3	-	1	223	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	20					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.D20Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGGAATGGATCTTCTAGTTTC	0.522																																					p.D20Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58T	5						.						95.0	102.0	100.0					5																	151784617		2203	4300	6503	151764810	SO:0001583	missense	56923	exon1			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.58G>T	5.37:g.151784617C>A	ENSP00000255262:p.Asp20Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	151764810	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841537	0.16963	.	.	ENSG00000132911	ENST00000255262	T	0.70869	-0.52	5.43	5.43	0.79202	.	0.214109	0.34603	N	0.003821	T	0.74382	0.3709	L	0.36672	1.1	0.42004	D	0.990909	D	0.76494	0.999	D	0.63488	0.915	T	0.75246	-0.3385	10	0.51188	T	0.08	-8.6115	11.6651	0.51368	0.0:0.9195:0.0:0.0805	.	20	Q9GZQ4	NMUR2_HUMAN	Y	20	ENSP00000255262:D20Y	ENSP00000255262:D20Y	D	-	1	0	NMUR2	151764810	0.003000	0.15002	0.627000	0.29227	0.023000	0.10783	0.931000	0.28871	2.547000	0.85894	0.655000	0.94253	GAT		0.522	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GRIA1	2890	broad.mit.edu	37	5	153065884	153065884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:153065884C>T	ENST00000285900.5	+	8	1472	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	GRIA1_ENST00000448073.4_Nonsense_Mutation_p.R387*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.R297*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.R387*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.R377*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.R308*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	377					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R377*(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGACGGCATCCGAAAGGTAAG	0.512																																					p.R377X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1129T	5						.						98.0	89.0	92.0					5																	153065884		2203	4300	6503	153046077	SO:0001587	stop_gained	2890	exon8				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1129C>T	5.37:g.153065884C>T	ENSP00000285900:p.Arg377*	Somatic		Capture	Illumina HiSeq	Phase_I	153046077	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonsense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	37	6.492604	0.97612	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.23	2.32	0.28847	.	0.061429	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7135	0.62682	0.5498:0.4502:0.0:0.0	.	.	.	.	X	377;377;297;331;377;308;308;387;387	.	ENSP00000285900:R377X	R	+	1	2	GRIA1	153046077	0.541000	0.26417	0.999000	0.59377	0.727000	0.41649	0.800000	0.27042	0.159000	0.19401	-0.182000	0.12963	CGA		0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GRIA1	2890	broad.mit.edu	37	5	153085558	153085558	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:153085558T>G	ENST00000285900.5	+	11	2097	c.1754T>G	c.(1753-1755)tTt>tGt	p.F585C	GRIA1_ENST00000448073.4_Missense_Mutation_p.F595C|GRIA1_ENST00000518142.1_Missense_Mutation_p.F505C|GRIA1_ENST00000518783.1_Missense_Mutation_p.F595C|GRIA1_ENST00000340592.5_Missense_Mutation_p.F585C|GRIA1_ENST00000521843.2_Missense_Mutation_p.F516C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	585					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.F585Y(2)|p.F585C(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCCAATGAGTTTGGGATATTC	0.507																																					p.F585C												.	.	3	Substitution - Missense(3)	liver(2)|large_intestine(1)	c.T1754G	5						.						142.0	126.0	131.0					5																	153085558		2203	4300	6503	153065751	SO:0001583	missense	2890	exon11				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1754T>G	5.37:g.153085558T>G	ENSP00000285900:p.Phe585Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153065751	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194482	0.78902	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.97430	1.88;1.88;1.88;-4.38;1.88;1.88;1.88	5.06	5.06	0.68205	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.91090	3.175	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	0.87578	0.986;0.986;0.998;0.986;0.976;0.997	D	0.99751	1.1018	10	0.87932	D	0	.	14.2848	0.66240	0.0:0.0:0.0:1.0	.	595;595;505;595;585;585	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	C	585;585;505;539;585;516;516;595;595	ENSP00000285900:F585C;ENSP00000427920:F505C;ENSP00000339343:F585C;ENSP00000427864:F516C;ENSP00000442108:F516C;ENSP00000428994:F595C;ENSP00000415569:F595C	ENSP00000285900:F585C	F	+	2	0	GRIA1	153065751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	2.020000	0.59435	0.533000	0.62120	TTT		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
HAND1	9421	broad.mit.edu	37	5	153857159	153857159	+	Missense_Mutation	SNP	C	C	T	rs374536409		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:153857159C>T	ENST00000231121.2	-	1	665	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	137	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R137H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGTGGCTAGGCGCAGAGTCTT	0.597																																					p.R137H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	5						.						162.0	133.0	143.0					5																	153857159		2203	4300	6503	153837352	SO:0001583	missense	9421	exon1			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.410G>A	5.37:g.153857159C>T	ENSP00000231121:p.Arg137His	Somatic		Capture	Illumina HiSeq	Phase_I	153837352	NM_004821		Missense_Mutation	SNP	ENST00000231121.2	37	CCDS4327.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186333	0.94885	.	.	ENSG00000113196	ENST00000231121	D	0.98249	-4.82	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99802	1.1036	10	0.66056	D	0.02	-34.0029	16.0319	0.80585	0.0:1.0:0.0:0.0	.	137	O96004	HAND1_HUMAN	H	137	ENSP00000231121:R137H	ENSP00000231121:R137H	R	-	2	0	HAND1	153837352	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.620000	0.83070	2.367000	0.80283	0.462000	0.41574	CGC		0.597	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821	
KIF4B	285643	broad.mit.edu	37	5	154393792	154393792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:154393792G>A	ENST00000435029.4	+	1	533	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.E125K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTCTTCAAAGAAATTGATAA	0.378																																					p.E125K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G373A	5						.						81.0	87.0	85.0					5																	154393792		2203	4300	6503	154373985	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.373G>A	5.37:g.154393792G>A	ENSP00000387875:p.Glu125Lys	Somatic		Capture	Illumina HiSeq	Phase_I	154373985	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	7.951	0.744905	0.15710	.	.	ENSG00000226650	ENST00000435029	T	0.74842	-0.88	1.93	1.93	0.25924	Kinesin, motor domain (4);	.	.	.	.	T	0.44329	0.1288	N	0.01729	-0.75	0.50632	D	0.999882	B	0.21753	0.06	B	0.29077	0.098	T	0.38134	-0.9675	9	0.06891	T	0.86	.	9.8543	0.41077	0.0:0.0:1.0:0.0	.	125	Q2VIQ3	KIF4B_HUMAN	K	125	ENSP00000387875:E125K	ENSP00000387875:E125K	E	+	1	0	KIF4B	154373985	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	2.868000	0.48436	1.404000	0.46819	0.655000	0.94253	GAA		0.378	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
KIF4B	285643	broad.mit.edu	37	5	154396877	154396877	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:154396877G>T	ENST00000435029.4	+	1	3618	c.3458G>T	c.(3457-3459)gGa>gTa	p.G1153V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1153	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1153V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGACCCCAGGATTGAGCTTC	0.537																																					p.G1153V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3458T	5						.						109.0	110.0	110.0					5																	154396877		2203	4300	6503	154377070	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3458G>T	5.37:g.154396877G>T	ENSP00000387875:p.Gly1153Val	Somatic		Capture	Illumina HiSeq	Phase_I	154377070	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563220	0.27915	.	.	ENSG00000226650	ENST00000435029	T	0.69806	-0.43	1.48	1.48	0.22813	.	.	.	.	.	T	0.68118	0.2966	L	0.56769	1.78	0.58432	D	0.999999	D	0.56746	0.977	P	0.55577	0.779	T	0.66135	-0.5999	9	0.42905	T	0.14	.	6.3773	0.21515	0.0:0.0:1.0:0.0	.	1153	Q2VIQ3	KIF4B_HUMAN	V	1153	ENSP00000387875:G1153V	ENSP00000387875:G1153V	G	+	2	0	KIF4B	154377070	0.784000	0.28713	0.998000	0.56505	0.393000	0.30537	1.730000	0.38125	1.138000	0.42230	0.563000	0.77884	GGA		0.537	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
FAM71B	153745	broad.mit.edu	37	5	156589945	156589945	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:156589945G>T	ENST00000302938.4	-	2	1426	c.1331C>A	c.(1330-1332)tCt>tAt	p.S444Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	444						nucleus (GO:0005634)		p.S444Y(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGTGATGAGAACTTTTCCT	0.507																																					p.S444Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1331A	5						.						167.0	160.0	162.0					5																	156589945		2203	4300	6503	156522523	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1331C>A	5.37:g.156589945G>T	ENSP00000305596:p.Ser444Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156522523	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132273	0.77662	.	.	ENSG00000170613	ENST00000302938	T	0.18502	2.21	4.64	3.77	0.43336	.	0.000000	0.40640	N	0.001056	T	0.38480	0.1042	M	0.78049	2.395	0.35564	D	0.804894	D	0.89917	1.0	D	0.68192	0.956	T	0.53906	-0.8372	10	0.87932	D	0	-9.6746	9.6228	0.39732	0.0999:0.0:0.9001:0.0	.	444	Q8TC56	FA71B_HUMAN	Y	444	ENSP00000305596:S444Y	ENSP00000305596:S444Y	S	-	2	0	FAM71B	156522523	1.000000	0.71417	0.893000	0.35052	0.490000	0.33462	2.765000	0.47621	1.256000	0.44068	0.655000	0.94253	TCT		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
FAM71B	153745	broad.mit.edu	37	5	156590152	156590152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:156590152G>A	ENST00000302938.4	-	2	1219	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus (GO:0005634)		p.A375V(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTGCAAACGCCGCACTCAA	0.582																																					p.A375V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1124T	5						.						39.0	41.0	40.0					5																	156590152		2203	4300	6503	156522730	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1124C>T	5.37:g.156590152G>A	ENSP00000305596:p.Ala375Val	Somatic		Capture	Illumina HiSeq	Phase_I	156522730	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	3.071	-0.191206	0.06299	.	.	ENSG00000170613	ENST00000302938	T	0.19394	2.15	3.54	-0.0969	0.13635	.	0.605340	0.13755	N	0.365004	T	0.07098	0.0180	N	0.04355	-0.22	0.09310	N	1	B	0.29037	0.231	B	0.15484	0.013	T	0.32295	-0.9912	10	0.29301	T	0.29	-9.8611	5.7952	0.18383	0.5674:0.0:0.4326:0.0	.	375	Q8TC56	FA71B_HUMAN	V	375	ENSP00000305596:A375V	ENSP00000305596:A375V	A	-	2	0	FAM71B	156522730	0.009000	0.17119	0.003000	0.11579	0.004000	0.04260	0.786000	0.26844	-0.033000	0.13736	-0.367000	0.07326	GCG		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
CYFIP2	26999	broad.mit.edu	37	5	156723693	156723693	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:156723693G>A	ENST00000521420.1	+	4	311	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E100K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E100K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E25K|CYFIP2_ENST00000347377.6_Missense_Mutation_p.E100K					cytoplasmic FMR1 interacting protein 2									p.E100K(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAATGCAACGAGCAGCCCAA	0.463																																					p.E100K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G298A	5						.						115.0	114.0	115.0					5																	156723693		1952	4139	6091	156656271	SO:0001583	missense	26999	exon5			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.220G>A	5.37:g.156723693G>A	ENSP00000430904:p.Glu74Lys	Somatic		Capture	Illumina HiSeq	Phase_I	156656271	NM_001037332		Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	G	19.78	3.891709	0.72524	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.81239	2.535	0.80722	D	1	D;B;P;P	0.59767	0.986;0.384;0.633;0.826	B;B;B;B	0.44278	0.445;0.023;0.249;0.305	T	0.59778	-0.7390	10	0.38643	T	0.18	-13.114	17.6316	0.88109	0.0:0.0:1.0:0.0	.	74;100;100;100	E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;CYFP2_HUMAN	K	100;74;100;100;25	ENSP00000325817:E100K;ENSP00000430904:E74K;ENSP00000313567:E100K;ENSP00000366799:E100K;ENSP00000444645:E25K	ENSP00000325817:E100K	E	+	1	0	CYFIP2	156656271	1.000000	0.71417	0.959000	0.39883	0.477000	0.33069	9.671000	0.98627	2.155000	0.67459	0.563000	0.77884	GAG		0.463	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	
CLINT1	9685	broad.mit.edu	37	5	157218765	157218765	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:157218765G>T	ENST00000411809.2	-	10	1530	c.1326C>A	c.(1324-1326)ttC>ttA	p.F442L	CLINT1_ENST00000523094.1_Missense_Mutation_p.F424L|CLINT1_ENST00000523908.1_Missense_Mutation_p.F442L|CLINT1_ENST00000530742.1_Missense_Mutation_p.F424L|CLINT1_ENST00000296951.5_Missense_Mutation_p.F424L	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	442					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.F424L(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATCATAGAGAAATTCATAC	0.448																																					p.F442L	Colon(22;427 587 2170 6147 14291)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1326A	5						.						143.0	140.0	141.0					5																	157218765		1915	4143	6058	157151343	SO:0001583	missense	9685	exon10			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1326C>A	5.37:g.157218765G>T	ENSP00000388340:p.Phe442Leu	Somatic		Capture	Illumina HiSeq	Phase_I	157151343	NM_014666	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389040	0.42308	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.69	4.81	0.61882	.	0.369444	0.34133	N	0.004225	T	0.25232	0.0613	L	0.29908	0.895	0.48511	D	0.99966	B;B	0.14438	0.01;0.004	B;B	0.12837	0.008;0.006	T	0.09100	-1.0690	10	0.08837	T	0.75	-3.2407	7.5013	0.27520	0.1352:0.145:0.7198:0.0	.	442;442	B7Z6F8;Q14677	.;EPN4_HUMAN	L	424;424;442;424;442	ENSP00000429345:F424L;ENSP00000433419:F424L;ENSP00000388340:F442L;ENSP00000296951:F424L;ENSP00000429824:F442L	ENSP00000296951:F424L	F	-	3	2	CLINT1	157151343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.438000	0.35002	2.857000	0.98124	0.650000	0.86243	TTC		0.448	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	
UBLCP1	134510	broad.mit.edu	37	5	158711932	158711932	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:158711932G>A	ENST00000296786.6	+	11	1276	c.950G>A	c.(949-951)gGa>gAa	p.G317E		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	317						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.G317E(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGAAGCAAGGACAGTAGTTA	0.343																																					p.G317E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G950A	5						.						138.0	140.0	140.0					5																	158711932		2203	4298	6501	158644510	SO:0001583	missense	134510	exon11			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.950G>A	5.37:g.158711932G>A	ENSP00000296786:p.Gly317Glu	Somatic		Capture	Illumina HiSeq	Phase_I	158644510	NM_145049	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725686	0.30593	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.89	0.94794	.	0.250556	0.42294	D	0.000740	T	0.55210	0.1906	L	0.38531	1.155	0.39478	D	0.967833	B	0.19817	0.039	B	0.17433	0.018	T	0.49214	-0.8963	9	0.31617	T	0.26	-21.8598	18.4294	0.90620	0.0:0.0:1.0:0.0	.	317	Q8WVY7	UBCP1_HUMAN	E	317	.	ENSP00000296786:G317E	G	+	2	0	UBLCP1	158644510	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.541000	0.67212	2.785000	0.95823	0.643000	0.83706	GGA		0.343	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
IL12B	3593	broad.mit.edu	37	5	158745801	158745801	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:158745801A>G	ENST00000231228.2	-	6	1253	c.798T>C	c.(796-798)caT>caC	p.H266H	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	266	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.H266H(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGTAGGAATGTGGAGTAC	0.488																																					p.H266H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T798C	5						.						124.0	111.0	116.0					5																	158745801		2203	4300	6503	158678379	SO:0001819	synonymous_variant	3593	exon6			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.798T>C	5.37:g.158745801A>G		Somatic		Capture	Illumina HiSeq	Phase_I	158678379	NM_002187		Silent	SNP	ENST00000231228.2	37	CCDS4346.1																																																																																				0.488	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
IL12B	3593	broad.mit.edu	37	5	158749444	158749445	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:158749444_158749445GT>AC	ENST00000231228.2	-	4	894_895	c.439_440AC>GT	c.(439-441)ACa>GTa	p.T147V		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	147					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.T147>?(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTACTGATTGTCGTCAGCCAC	0.381																																					.												.	.	1	Complex(1)	large_intestine(1)	c.439_440GT	5						NA																																			158682023	SO:0001583	missense	3593	exon4			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.439_440delinsAC	5.37:g.158749444_158749445delinsAC	ENSP00000231228:p.Thr147Val	Somatic		Capture	Illumina HiSeq	Phase_I	158682022	NM_002187		Missense_Mutation	DNP	ENST00000231228.2	37	CCDS4346.1																																																																																				0.381	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
PTTG1	9232	broad.mit.edu	37	5	159851318	159851318	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:159851318C>A	ENST00000393964.1	+	3	754	c.351C>A	c.(349-351)ttC>ttA	p.F117L	PTTG1_ENST00000520452.1_Missense_Mutation_p.F117L|PTTG1_ENST00000352433.5_Missense_Mutation_p.F117L|PTTG1_ENST00000519287.1_3'UTR	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F117L(1)		breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TAGAAAAATTCTTTCCCTTCA	0.373																																					p.F117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C351A	5						.						111.0	115.0	114.0					5																	159851318		2203	4300	6503	159783896	SO:0001583	missense	9232	exon4			AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.351C>A	5.37:g.159851318C>A	ENSP00000377536:p.Phe117Leu	Somatic		Capture	Illumina HiSeq	Phase_I	159783896	NM_004219		Missense_Mutation	SNP	ENST00000393964.1	37	CCDS4353.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491276	0.26774	.	.	ENSG00000164611	ENST00000352433;ENST00000520452;ENST00000393964	T;T;T	0.39997	1.05;1.05;1.05	5.16	1.19	0.21007	.	0.319927	0.32819	N	0.005604	T	0.23926	0.0579	L	0.37561	1.115	0.33690	D	0.613235	B	0.02656	0.0	B	0.12837	0.008	T	0.09684	-1.0663	9	.	.	.	-3.2942	1.0163	0.01508	0.1591:0.4145:0.1549:0.2715	.	117	O95997	PTTG1_HUMAN	L	117	ENSP00000344936:F117L;ENSP00000430642:F117L;ENSP00000377536:F117L	.	F	+	3	2	PTTG1	159783896	0.991000	0.36638	1.000000	0.80357	0.968000	0.65278	-0.029000	0.12329	0.203000	0.20529	-0.263000	0.10527	TTC		0.373	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219	
GABRB2	2561	broad.mit.edu	37	5	160886771	160886771	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:160886771G>T	ENST00000393959.1	-	4	316	c.317C>A	c.(316-318)aCt>aAt	p.T106N	GABRB2_ENST00000517901.1_Missense_Mutation_p.T43N|GABRB2_ENST00000274547.2_Missense_Mutation_p.T106N|GABRB2_ENST00000520240.1_Missense_Mutation_p.T106N|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Missense_Mutation_p.T106N			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	106					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.T106N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTGTCCAGAGTCAAGTTTAA	0.413																																					p.T106N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C317A	5						.						88.0	81.0	84.0					5																	160886771		2203	4300	6503	160819349	SO:0001583	missense	2561	exon5				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.317C>A	5.37:g.160886771G>T	ENSP00000377531:p.Thr106Asn	Somatic		Capture	Illumina HiSeq	Phase_I	160819349	NM_021911	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947620	0.92593	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.85630	2.765	0.80722	D	1	P;D;D;D	0.71674	0.93;0.998;0.988;0.997	D;D;D;D	0.72075	0.919;0.976;0.925;0.945	D	0.91998	0.5608	10	0.66056	D	0.02	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	106;43;106;106	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	N	106;106;106;106;43	ENSP00000377531:T106N;ENSP00000274547:T106N;ENSP00000274546:T106N;ENSP00000429320:T106N;ENSP00000430532:T43N	ENSP00000274547:T106N	T	-	2	0	GABRB2	160819349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.695000	0.98691	2.455000	0.83008	0.655000	0.94253	ACT		0.413	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
GABRA6	2559	broad.mit.edu	37	5	161116058	161116058	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161116058A>C	ENST00000274545.5	+	4	762	c.329A>C	c.(328-330)aAa>aCa	p.K110T	GABRA6_ENST00000523217.1_Missense_Mutation_p.K100T|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	110					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K110T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGTCAGTAAAATCTGGACG	0.413										TCGA Ovarian(5;0.080)																											p.K110T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A329C	5						.						71.0	72.0	72.0					5																	161116058		2203	4299	6502	161048636	SO:0001583	missense	2559	exon4				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.329A>C	5.37:g.161116058A>C	ENSP00000274545:p.Lys110Thr	Somatic		Capture	Illumina HiSeq	Phase_I	161048636	NM_000811	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.063750|4.063750	0.76187|0.76187	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	T|T;T;T;T	0.79653|0.80480	-1.29|-1.38;-1.38;-1.38;-1.38	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91147|0.91147	0.7212|0.7212	M|M	0.88640|0.88640	2.97|2.97	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.92750|0.92750	0.6215|0.6215	8|10	0.22706|0.87932	T|D	0.39|0	.|.	16.1778|16.1778	0.81874|0.81874	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|110	.|Q16445	.|GBRA6_HUMAN	Q|T	50|110;100;57;5	ENSP00000429943:K50Q|ENSP00000274545:K110T;ENSP00000430527:K100T;ENSP00000430212:K57T;ENSP00000427989:K5T	ENSP00000429943:K50Q|ENSP00000274545:K110T	K|K	+|+	1|2	0|0	GABRA6|GABRA6	161048636|161048636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.221000|6.221000	0.72243|0.72243	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.413	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
GABRA6	2559	broad.mit.edu	37	5	161128572	161128572	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)																											p.S385S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1155T	5						.						104.0	104.0	104.0					5																	161128572		2203	4300	6503	161061150	SO:0001819	synonymous_variant	2559	exon9				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1155C>T	5.37:g.161128572C>T		Somatic		Capture	Illumina HiSeq	Phase_I	161061150	NM_000811	A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	CCDS4356.1																																																																																				0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
GABRA1	2554	broad.mit.edu	37	5	161309635	161309635	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161309635G>T	ENST00000428797.2	+	8	986	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GABRA1_ENST00000437025.2_Missense_Mutation_p.D211Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D211Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D211Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D211Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D211Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	211					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D211Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTAGCAGAAGATGGATCACG	0.403																																					p.D211Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	5						.						161.0	140.0	147.0					5																	161309635		2203	4300	6503	161242213	SO:0001583	missense	2554	exon7				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.631G>T	5.37:g.161309635G>T	ENSP00000393097:p.Asp211Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	161242213	NM_001127646	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751638	0.89753	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90792	0.4687	10	0.87932	D	0	.	18.3886	0.90474	0.0:0.0:1.0:0.0	.	211	P14867	GBRA1_HUMAN	Y	211	ENSP00000023897:D211Y;ENSP00000393097:D211Y;ENSP00000377517:D211Y;ENSP00000415441:D211Y;ENSP00000408041:D211Y;ENSP00000414232:D211Y	ENSP00000023897:D211Y	D	+	1	0	GABRA1	161242213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.695000	0.98691	2.657000	0.90304	0.650000	0.86243	GAT		0.403	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GABRA1	2554	broad.mit.edu	37	5	161322872	161322872	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161322872A>C	ENST00000428797.2	+	10	1412	c.1057A>C	c.(1057-1059)Aag>Cag	p.K353Q	GABRA1_ENST00000437025.2_Missense_Mutation_p.K353Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.K353Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.K353Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.K353Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.K353Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	353					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K353Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTTCCAGAAAAGGTAAATGC	0.393																																					p.K353Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1057C	5						.						173.0	159.0	164.0					5																	161322872		2203	4300	6503	161255450	SO:0001583	missense	2554	exon9				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1057A>C	5.37:g.161322872A>C	ENSP00000393097:p.Lys353Gln	Somatic		Capture	Illumina HiSeq	Phase_I	161255450	NM_001127646	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646608	0.47258	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.221172	0.45867	D	0.000336	T	0.74191	0.3684	N	0.22421	0.69	0.58432	D	0.999999	B	0.16166	0.016	B	0.16722	0.016	T	0.69833	-0.5038	10	0.41790	T	0.15	.	15.2283	0.73367	1.0:0.0:0.0:0.0	.	353	P14867	GBRA1_HUMAN	Q	353	ENSP00000023897:K353Q;ENSP00000393097:K353Q;ENSP00000377517:K353Q;ENSP00000415441:K353Q;ENSP00000408041:K353Q;ENSP00000414232:K353Q	ENSP00000023897:K353Q	K	+	1	0	GABRA1	161255450	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.850000	0.92190	1.993000	0.58246	0.528000	0.53228	AAG		0.393	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
MYO10	4651	broad.mit.edu	37	5	16680191	16680191	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:16680191G>A	ENST00000513610.1	-	33	4861	c.4407C>T	c.(4405-4407)taC>taT	p.Y1469Y	MYO10_ENST00000427430.2_Silent_p.Y826Y|MYO10_ENST00000515803.1_Silent_p.Y808Y|MYO10_ENST00000505695.1_Silent_p.Y808Y|MYO10_ENST00000274203.9_Silent_p.Y826Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1469	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.Y1469Y(1)|p.Y1469*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTGCGCCCGTACACGGTGA	0.612																																					p.Y1469Y												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.C4407T	5						.						64.0	67.0	66.0					5																	16680191		2091	4211	6302	16733191	SO:0001819	synonymous_variant	4651	exon33			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4407C>T	5.37:g.16680191G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16733191	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MAT2B	27430	broad.mit.edu	37	5	162930427	162930427	+	5'Flank	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:162930427G>A	ENST00000321757.6	+	0	0				MAT2B_ENST00000518095.1_5'Flank|MAT2B_ENST00000280969.5_Silent_p.E9E	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta						cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.E9E(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	AGGACATGGAGCAGGTAAGAA	0.433																																					p.E9E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G27A	5						.						136.0	132.0	133.0					5																	162930427		2203	4300	6503	162863005	SO:0001631	upstream_gene_variant	27430	exon1			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379		5.37:g.162930427G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	162863005	NM_182796	B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	5'Flank	SNP	ENST00000321757.6	37	CCDS4365.1																																																																																				0.433	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283	
TENM2	57451	broad.mit.edu	37	5	167545356	167545356	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:167545356T>G	ENST00000518659.1	+	10	1912	c.1873T>G	c.(1873-1875)Tac>Gac	p.Y625D	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.Y625D|TENM2_ENST00000519204.1_Missense_Mutation_p.Y504D|TENM2_ENST00000520394.1_Missense_Mutation_p.Y393D|TENM2_ENST00000403607.2_Missense_Mutation_p.Y458D	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	625	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Y458D(1)|p.Y625D(1)									GTGCCAGTGCTACAGCGGCTG	0.572																																					p.Y625D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1873G	5						.						161.0	163.0	162.0					5																	167545356		2144	4254	6398	167477934	SO:0001583	missense	57451	exon10			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1873T>G	5.37:g.167545356T>G	ENSP00000429430:p.Tyr625Asp	Somatic		Capture	Illumina HiSeq	Phase_I	167477934	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	T	16.96	3.265468	0.59431	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	4.79	4.79	0.61399	EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.123452	0.56097	D	0.000026	T	0.16599	0.0399	N	0.12527	0.23	0.46774	D	0.999196	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.961;0.996;0.956	T	0.20605	-1.0270	10	0.35671	T	0.21	.	14.3485	0.66682	0.0:0.0:0.0:1.0	.	625;393;504	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	D	625;625;504;393;458	ENSP00000429430:Y625D;ENSP00000438635:Y625D;ENSP00000428964:Y504D;ENSP00000427874:Y393D;ENSP00000384905:Y458D	ENSP00000384905:Y458D	Y	+	1	0	ODZ2	167477934	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.157000	0.64911	1.793000	0.52555	0.460000	0.39030	TAC		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
MYO10	4651	broad.mit.edu	37	5	16704716	16704716	+	Missense_Mutation	SNP	G	G	A	rs200913263		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:16704716G>A	ENST00000513610.1	-	22	2702	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MYO10_ENST00000427430.2_Missense_Mutation_p.R107W|MYO10_ENST00000515803.1_Missense_Mutation_p.R89W|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000505695.1_Missense_Mutation_p.R89W|MYO10_ENST00000274203.9_Missense_Mutation_p.R107W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	750	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.R750W(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACATGGGCCCGAATCACCATG	0.567																																					p.R750W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2248T	5						.						67.0	72.0	70.0					5																	16704716		2002	4172	6174	16757716	SO:0001583	missense	4651	exon22			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2248C>T	5.37:g.16704716G>A	ENSP00000421280:p.Arg750Trp	Somatic		Capture	Illumina HiSeq	Phase_I	16757716	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697759	0.88830	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	T;D;D;D;D;T	0.95272	-0.61;-3.66;-3.66;-3.66;-3.66;-0.61	5.37	5.37	0.77165	.	.	.	.	.	D	0.96549	0.8874	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64595	0.927;0.912	D	0.96956	0.9698	9	0.87932	D	0	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	391;750	Q69YP8;Q9HD67	.;MYO10_HUMAN	W	750;89;107;89;107;761	ENSP00000421280:R750W;ENSP00000425051:R89W;ENSP00000274203:R107W;ENSP00000421170:R89W;ENSP00000391106:R107W;ENSP00000421309:R761W	ENSP00000274203:R107W	R	-	1	2	MYO10	16757716	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	9.807000	0.99171	2.509000	0.84616	0.563000	0.77884	CGG		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
TENM2	57451	broad.mit.edu	37	5	167626886	167626886	+	Silent	SNP	C	C	T	rs374408633		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:167626886C>T	ENST00000518659.1	+	17	3219	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I	TENM2_ENST00000545108.1_Silent_p.I1060I|TENM2_ENST00000519204.1_Silent_p.I939I|TENM2_ENST00000520394.1_Silent_p.I828I|TENM2_ENST00000403607.2_Silent_p.I884I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1060					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I893I(1)|p.I1060I(1)									ATGAAGAAATCGAGCTCCCTG	0.493																																					p.I1051I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3153T	5						.	C		0,3868		0,0,1934	164.0	158.0	160.0		3153	-3.9	1.0	5		160	2,8298		0,2,4148	no	coding-synonymous	ODZ2	NM_001122679.1		0,2,6082	TT,TC,CC		0.0241,0.0,0.0164		1051/2766	167626886	2,12166	1934	4150	6084	167559464	SO:0001819	synonymous_variant	57451	exon17			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3180C>T	5.37:g.167626886C>T		Somatic		Capture	Illumina HiSeq	Phase_I	167559464	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
PANK3	79646	broad.mit.edu	37	5	167990927	167990927	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:167990927C>A	ENST00000239231.6	-	4	1095	c.779G>T	c.(778-780)aGa>aTa	p.R260I	MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	260					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R260I(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAAACCAAATCTTTCATAATC	0.383																																					p.R260I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G779T	5						.						116.0	121.0	119.0					5																	167990927		2203	4300	6503	167923505	SO:0001583	missense	79646	exon4			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.779G>T	5.37:g.167990927C>A	ENSP00000239231:p.Arg260Ile	Somatic		Capture	Illumina HiSeq	Phase_I	167923505	NM_024594	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310934	0.95629	.	.	ENSG00000120137	ENST00000239231	D	0.99567	-6.18	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.85197	2.74	0.80722	D	1	P	0.45240	0.854	P	0.57009	0.811	D	0.98036	1.0379	10	0.62326	D	0.03	-16.5051	17.4478	0.87583	0.0:1.0:0.0:0.0	.	260	Q9H999	PANK3_HUMAN	I	260	ENSP00000239231:R260I	ENSP00000239231:R260I	R	-	2	0	PANK3	167923505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.669000	0.83911	2.432000	0.82394	0.591000	0.81541	AGA		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
DOCK2	1794	broad.mit.edu	37	5	169081470	169081470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169081470G>A	ENST00000256935.8	+	2	187	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	36	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R36Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGTGGTGCGAATACAGGAG	0.582																																					p.R36Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G107A	5						.						75.0	76.0	76.0					5																	169081470		2203	4300	6503	169014048	SO:0001583	missense	1794	exon2			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.107G>A	5.37:g.169081470G>A	ENSP00000256935:p.Arg36Gln	Somatic		Capture	Illumina HiSeq	Phase_I	169014048	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112237	0.20795	.	.	ENSG00000134516	ENST00000256935	T	0.08546	3.08	5.82	4.03	0.46877	Src homology-3 domain (3);Variant SH3 (1);	0.326244	0.31784	N	0.007071	T	0.03220	0.0094	N	0.03029	-0.43	0.29144	N	0.878796	B	0.12013	0.005	B	0.09377	0.004	T	0.33059	-0.9883	10	0.23302	T	0.38	.	7.9945	0.30261	0.1785:0.0:0.8215:0.0	.	36	Q92608	DOCK2_HUMAN	Q	36	ENSP00000256935:R36Q	ENSP00000256935:R36Q	R	+	2	0	DOCK2	169014048	0.540000	0.26410	0.451000	0.26982	0.753000	0.42808	2.247000	0.43151	1.465000	0.48006	0.655000	0.94253	CGA		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169108851	169108851	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169108851G>A	ENST00000256935.8	+	7	654	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	192					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D192N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCAACTGATAAAATCAC	0.373																																					p.D192N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	5						.						130.0	124.0	126.0					5																	169108851		2203	4300	6503	169041429	SO:0001583	missense	1794	exon7			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.574G>A	5.37:g.169108851G>A	ENSP00000256935:p.Asp192Asn	Somatic		Capture	Illumina HiSeq	Phase_I	169041429	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687664	0.29962	.	.	ENSG00000134516	ENST00000256935	T	0.50277	0.75	4.7	2.86	0.33363	.	0.807841	0.11840	N	0.524413	T	0.30039	0.0752	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.21014	T	0.42	.	3.6698	0.08269	0.113:0.1589:0.5654:0.1627	.	192	Q92608	DOCK2_HUMAN	N	192	ENSP00000256935:D192N	ENSP00000256935:D192N	D	+	1	0	DOCK2	169041429	0.965000	0.33210	0.299000	0.25016	0.786000	0.44442	2.313000	0.43735	0.495000	0.27882	0.655000	0.94253	GAT		0.373	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169138993	169138993	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169138993C>A	ENST00000256935.8	+	16	1617	c.1537C>A	c.(1537-1539)Cat>Aat	p.H513N	DOCK2_ENST00000520908.1_Missense_Mutation_p.D39E|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	513	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.H513N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGTTTCGACATCGGTCATC	0.493																																					p.H513N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1537A	5						.						204.0	172.0	183.0					5																	169138993		2203	4300	6503	169071571	SO:0001583	missense	1794	exon16			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1537C>A	5.37:g.169138993C>A	ENSP00000256935:p.His513Asn	Somatic		Capture	Illumina HiSeq	Phase_I	169071571	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.408624|4.408624	0.83340|0.83340	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.06449|0.17528	3.3|2.27	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48554|0.48554	0.1506|0.1506	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	B|D;D	0.31153|0.89917	0.31|1.0;1.0	B|D;D	0.24974|0.97110	0.057|1.0;0.999	T|T	0.46020|0.46020	-0.9221|-0.9221	9|10	0.02654|0.37606	T|T	1|0.19	.|.	19.3773|19.3773	0.94517|0.94517	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	39|513;513	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	E|N	39|513;31	ENSP00000429283:D39E|ENSP00000256935:H513N	ENSP00000429283:D39E|ENSP00000256935:H513N	D|H	+|+	3|1	2|0	DOCK2|DOCK2	169071571|169071571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.770000|7.770000	0.85390|0.85390	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CAT		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169141087	169141087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169141087G>A	ENST00000256935.8	+	18	1795	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R64Q|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	572	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R572Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCTTATCGACACCATGTG	0.572																																					p.R572Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1715A	5						.						71.0	67.0	69.0					5																	169141087		2203	4300	6503	169073665	SO:0001583	missense	1794	exon18			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1715G>A	5.37:g.169141087G>A	ENSP00000256935:p.Arg572Gln	Somatic		Capture	Illumina HiSeq	Phase_I	169073665	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.949674	0.97134	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.13657	2.57;3.28	5.9	5.9	0.94986	.	0.120057	0.56097	D	0.000021	T	0.37571	0.1008	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.80764	0.994;0.845;0.928	T	0.00787	-1.1566	10	0.25751	T	0.34	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	64;572;572	E7ERW7;E5RFJ0;Q92608	.;.;DOCK2_HUMAN	Q	572;90;64	ENSP00000256935:R572Q;ENSP00000429283:R64Q	ENSP00000256935:R572Q	R	+	2	0	DOCK2	169073665	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.249000	0.95470	2.797000	0.96272	0.655000	0.94253	CGA		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169186768	169186768	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169186768G>A	ENST00000256935.8	+	24	2516	c.2436G>A	c.(2434-2436)gcG>gcA	p.A812A	DOCK2_ENST00000520908.1_Silent_p.A304A|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	812					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A812A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTTGATGCGAAGTTACTCA	0.473																																					p.A812A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2436A	5						.						247.0	225.0	232.0					5																	169186768		2203	4300	6503	169119346	SO:0001819	synonymous_variant	1794	exon24			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2436G>A	5.37:g.169186768G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169119346	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.473	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
FOXI1	2299	broad.mit.edu	37	5	169533060	169533060	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169533060G>T	ENST00000306268.6	+	1	160	c.99G>T	c.(97-99)gaG>gaT	p.E33D	FOXI1_ENST00000449804.2_Missense_Mutation_p.E33D			Q12951	FOXI1_HUMAN	forkhead box I1	33	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E33D(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACTATGAGAACTTCTTCC	0.677									Pendred syndrome																												p.E33D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	5						.						27.0	29.0	29.0					5																	169533060		2203	4299	6502	169465638	SO:0001583	missense	2299	exon1	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.99G>T	5.37:g.169533060G>T	ENSP00000304286:p.Glu33Asp	Somatic		Capture	Illumina HiSeq	Phase_I	169465638	NM_144769	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520260	0.27211	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.93763	-3.13;-3.28	4.5	1.52	0.23074	.	0.058720	0.64402	D	0.000002	T	0.79958	0.4536	N	0.10874	0.06	0.38907	D	0.95744	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.68424	-0.5412	10	0.02654	T	1	.	5.6298	0.17504	0.25:0.1369:0.6131:0.0	.	33;33	Q12951-2;Q12951	.;FOXI1_HUMAN	D	33	ENSP00000304286:E33D;ENSP00000415483:E33D	ENSP00000304286:E33D	E	+	3	2	FOXI1	169465638	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.377000	0.34317	0.300000	0.22699	0.491000	0.48974	GAG		0.677	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
LCP2	3937	broad.mit.edu	37	5	169677744	169677744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169677744C>T	ENST00000046794.5	-	20	2084	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.R285Q	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	490	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.R490Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTCTTTCCCTCGGAGTCCAGT	0.413																																					p.R490Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1469A	5						.						127.0	120.0	122.0					5																	169677744		1893	4101	5994	169610322	SO:0001583	missense	3937	exon20				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1469G>A	5.37:g.169677744C>T	ENSP00000046794:p.Arg490Gln	Somatic		Capture	Illumina HiSeq	Phase_I	169610322	NM_005565	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208421	0.79240	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	D;D	0.88354	-2.37;-2.37	5.53	5.53	0.82687	SH2 motif (4);	0.070917	0.56097	D	0.000033	D	0.85673	0.5751	L	0.39898	1.24	0.39343	D	0.965622	P;B	0.44776	0.843;0.339	B;B	0.44044	0.439;0.23	D	0.86011	0.1501	10	0.42905	T	0.14	-9.2657	12.4454	0.55647	0.0:0.9187:0.0:0.0813	.	285;490	E7ESF6;Q13094	.;LCP2_HUMAN	Q	490;285	ENSP00000046794:R490Q;ENSP00000428871:R285Q	ENSP00000046794:R490Q	R	-	2	0	LCP2	169610322	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.552000	0.45828	2.611000	0.88343	0.462000	0.41574	CGA		0.413	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
GABRP	2568	broad.mit.edu	37	5	170222300	170222300	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:170222300G>A	ENST00000518525.1	+	6	793	c.329G>A	c.(328-330)cGc>cAc	p.R110H	GABRP_ENST00000519598.1_Missense_Mutation_p.R110H|GABRP_ENST00000265294.4_Missense_Mutation_p.R110H|GABRP_ENST00000519385.1_Missense_Mutation_p.R110H			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	110					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R110H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGATGCCCGCCTCGTGGAG	0.562																																					p.R110H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	5						.						120.0	124.0	123.0					5																	170222300		2203	4300	6503	170154878	SO:0001583	missense	2568	exon5			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.329G>A	5.37:g.170222300G>A	ENSP00000430100:p.Arg110His	Somatic		Capture	Illumina HiSeq	Phase_I	170154878	NM_014211	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406535	0.96051	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.952	D	0.88215	0.2893	10	0.66056	D	0.02	.	19.5561	0.95349	0.0:0.0:1.0:0.0	.	110;110	E7EWG0;O00591	.;GBRP_HUMAN	H	110	ENSP00000428804:R110H;ENSP00000430188:R110H;ENSP00000430100:R110H;ENSP00000265294:R110H;ENSP00000430727:R110H;ENSP00000430772:R110H	ENSP00000265294:R110H	R	+	2	0	GABRP	170154878	1.000000	0.71417	0.930000	0.37139	0.983000	0.72400	9.795000	0.99099	2.784000	0.95788	0.643000	0.83706	CGC		0.562	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
FBXW11	23291	broad.mit.edu	37	5	171305067	171305067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:171305067G>T	ENST00000265094.5	-	7	993	c.856C>A	c.(856-858)Ctg>Atg	p.L286M	FBXW11_ENST00000296933.6_Missense_Mutation_p.L273M|FBXW11_ENST00000393802.2_Missense_Mutation_p.L252M|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000425623.2_Missense_Mutation_p.L254M	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	286					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L286M(1)|p.L273M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCATACTGCAGACAGAGGACA	0.433																																					p.L252M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C754A	5						.						118.0	101.0	107.0					5																	171305067		2203	4300	6503	171237672	SO:0001583	missense	23291	exon6			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.856C>A	5.37:g.171305067G>T	ENSP00000265094:p.Leu286Met	Somatic		Capture	Illumina HiSeq	Phase_I	171237672	NM_033645	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438016	0.83885	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.22	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;0.996	D;D;D;D	0.97110	0.988;0.989;1.0;0.98	T	0.78311	-0.2253	10	0.72032	D	0.01	-13.2637	13.6715	0.62427	0.0755:0.0:0.9245:0.0	.	254;252;286;273	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	M	273;286;252;254	ENSP00000296933:L273M;ENSP00000265094:L286M;ENSP00000377391:L252M;ENSP00000444929:L254M	ENSP00000265094:L286M	L	-	1	2	FBXW11	171237672	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.944000	0.87722	1.327000	0.45338	0.579000	0.79373	CTG		0.433	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	
UBTD2	92181	broad.mit.edu	37	5	171638918	171638918	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:171638918G>A	ENST00000393792.2	-	3	1026	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	207	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.F207F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGCTCTTCGAACTTCATTT	0.493																																					p.F207F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	5						.						84.0	79.0	81.0					5																	171638918		2203	4300	6503	171571523	SO:0001819	synonymous_variant	92181	exon3			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.621C>T	5.37:g.171638918G>A		Somatic		Capture	Illumina HiSeq	Phase_I	171571523	NM_152277	Q8TDQ3	Silent	SNP	ENST00000393792.2	37	CCDS4379.2																																																																																				0.493	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277	
UBTD2	92181	broad.mit.edu	37	5	171639000	171639000	+	Missense_Mutation	SNP	C	C	T	rs150478250		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:171639000C>T	ENST00000393792.2	-	3	944	c.539G>A	c.(538-540)cGg>cAg	p.R180Q		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	180	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.R180Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCATGCAACCGTCTCTTCAT	0.488																																					p.R180Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	5						.	C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	151.0	132.0	139.0		539	6.0	0.6	5	dbSNP_134	139	0,8600		0,0,4300	no	missense	UBTD2	NM_152277.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	180/235	171639000	2,13004	2203	4300	6503	171571605	SO:0001583	missense	92181	exon3			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.539G>A	5.37:g.171639000C>T	ENSP00000377381:p.Arg180Gln	Somatic		Capture	Illumina HiSeq	Phase_I	171571605	NM_152277	Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584970	0.46110	4.54E-4	0.0	ENSG00000168246	ENST00000393792	T	0.72942	-0.7	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	L	0.37800	1.135	0.80722	D	1	D	0.63046	0.992	P	0.55260	0.772	T	0.68085	-0.5502	10	0.26408	T	0.33	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	180	Q8WUN7	UBTD2_HUMAN	Q	180	ENSP00000377381:R180Q	ENSP00000377381:R180Q	R	-	2	0	UBTD2	171571605	1.000000	0.71417	0.571000	0.28486	0.526000	0.34562	4.944000	0.63561	2.832000	0.97577	0.655000	0.94253	CGG		0.488	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277	
SH3PXD2B	285590	broad.mit.edu	37	5	171766149	171766149	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:171766149G>A	ENST00000311601.5	-	13	2130	c.1960C>T	c.(1960-1962)Cca>Tca	p.P654S	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	654					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.P654S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCTGAGGTGGCTCCGTTTTG	0.577																																					p.P654S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1960T	5						.						103.0	100.0	101.0					5																	171766149		2203	4300	6503	171698754	SO:0001583	missense	285590	exon13			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1960C>T	5.37:g.171766149G>A	ENSP00000309714:p.Pro654Ser	Somatic		Capture	Illumina HiSeq	Phase_I	171698754	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085120	0.20390	.	.	ENSG00000174705	ENST00000311601	T	0.62232	0.04	5.46	3.59	0.41128	.	0.452954	0.25050	N	0.033540	T	0.46073	0.1374	L	0.34521	1.04	0.50813	D	0.999898	P	0.39282	0.666	B	0.35039	0.194	T	0.36720	-0.9736	9	.	.	.	-4.3634	10.5714	0.45202	0.0:0.1435:0.7076:0.1489	.	654	A1X283	SPD2B_HUMAN	S	654	ENSP00000309714:P654S	.	P	-	1	0	SH3PXD2B	171698754	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	2.253000	0.43205	1.271000	0.44313	0.555000	0.69702	CCA		0.577	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
SH3PXD2B	285590	broad.mit.edu	37	5	171766328	171766328	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:171766328A>C	ENST00000311601.5	-	13	1951	c.1781T>G	c.(1780-1782)aTg>aGg	p.M594R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	594					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.M594R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCCAGCCCCATGTCATTTTT	0.562																																					p.M594R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1781G	5						.						55.0	65.0	62.0					5																	171766328		2202	4300	6502	171698933	SO:0001583	missense	285590	exon13			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1781T>G	5.37:g.171766328A>C	ENSP00000309714:p.Met594Arg	Somatic		Capture	Illumina HiSeq	Phase_I	171698933	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935664	0.52972	.	.	ENSG00000174705	ENST00000311601	T	0.70631	-0.5	5.83	3.37	0.38596	.	0.155416	0.56097	D	0.000036	T	0.53753	0.1816	L	0.34521	1.04	0.58432	D	0.999996	B	0.20780	0.048	B	0.14023	0.01	T	0.36841	-0.9731	9	.	.	.	-24.4576	7.1301	0.25496	0.7746:0.1477:0.0777:0.0	.	594	A1X283	SPD2B_HUMAN	R	594	ENSP00000309714:M594R	.	M	-	2	0	SH3PXD2B	171698933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.884000	0.69729	0.433000	0.26313	0.459000	0.35465	ATG		0.562	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
CREBRF	153222	broad.mit.edu	37	5	172550120	172550120	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:172550120G>T	ENST00000296953.2	+	8	2038	c.1719G>T	c.(1717-1719)gaG>gaT	p.E573D	CREBRF_ENST00000540014.1_Missense_Mutation_p.E575D	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	573	bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E573D(1)									TCAAGCAAGAGATTGTAAACC	0.373																																					p.E573D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1719T	5						.						93.0	105.0	101.0					5																	172550120		2203	4300	6503	172482726	SO:0001583	missense	153222	exon8			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1719G>T	5.37:g.172550120G>T	ENSP00000296953:p.Glu573Asp	Somatic		Capture	Illumina HiSeq	Phase_I	172482726	NM_153607	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568871	0.65765	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.23348	1.91;1.91	5.3	3.42	0.39159	.	0.048443	0.85682	N	0.000000	T	0.13457	0.0326	L	0.27053	0.805	0.47778	D	0.99951	B	0.02656	0.0	B	0.08055	0.003	T	0.12016	-1.0564	10	0.14252	T	0.57	.	4.3085	0.10958	0.3074:0.1776:0.515:0.0	.	573	Q8IUR6	CE041_HUMAN	D	573;575;573;573	ENSP00000296953:E573D;ENSP00000440075:E575D	ENSP00000296953:E573D	E	+	3	2	C5orf41	172482726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.861000	0.39438	0.656000	0.30886	0.655000	0.94253	GAG		0.373	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607	
BNIP1	662	broad.mit.edu	37	5	172581348	172581348	+	Silent	SNP	G	G	A	rs147710868	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:172581348G>A	ENST00000351486.5	+	3	232	c.201G>A	c.(199-201)gaG>gaA	p.E67E	BNIP1_ENST00000231668.9_Silent_p.E110E|BNIP1_ENST00000393770.4_Silent_p.E67E|BNIP1_ENST00000352523.6_Silent_p.E110E	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	67					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.E110E(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGCTAAAGAGCAAGACAAAG	0.443													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19679	0.0		0.0	False		,,,				2504	0.0				p.E110E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G330A	5						.	G	,,,	0,4406		0,0,2203	72.0	71.0	72.0		201,201,330,330	4.8	1.0	5	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BNIP1	NM_001205.2,NM_013978.2,NM_013979.2,NM_013980.2	,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,	67/229,67/195,110/272,110/238	172581348	3,13003	2203	4300	6503	172513954	SO:0001819	synonymous_variant	662	exon4			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.201G>A	5.37:g.172581348G>A		Somatic		Capture	Illumina HiSeq	Phase_I	172513954	NM_013980	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Silent	SNP	ENST00000351486.5	37	CCDS4384.1																																																																																				0.443	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979	
CPEB4	80315	broad.mit.edu	37	5	173317785	173317785	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:173317785G>A	ENST00000265085.5	+	1	2503	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000334035.5_Missense_Mutation_p.R350H|CPEB4_ENST00000519835.1_Missense_Mutation_p.R350H|CPEB4_ENST00000520867.1_Missense_Mutation_p.R350H	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	350					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R350H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTATGCTCGCCCCAGCTCT	0.453																																					p.R350H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1049A	5						.						57.0	56.0	56.0					5																	173317785		2203	4300	6503	173250391	SO:0001583	missense	80315	exon1			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1049G>A	5.37:g.173317785G>A	ENSP00000265085:p.Arg350His	Somatic		Capture	Illumina HiSeq	Phase_I	173250391	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.082981|4.082981	0.76642|0.76642	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.|T;T;T;T	.|0.65364	.|0.21;-0.15;-0.06;-0.03	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78666|0.78666	0.4319|0.4319	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.79784	.|0.985;0.993;0.981;0.985	T|T	0.79985|0.79985	-0.1572|-0.1572	5|10	.|0.62326	.|D	.|0.03	-12.051|-12.051	19.0351|19.0351	0.92974|0.92974	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|350;350;350;350	.|B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.|.;.;.;CPEB4_HUMAN	T|H	36|350	.|ENSP00000265085:R350H;ENSP00000429092:R350H;ENSP00000334533:R350H;ENSP00000429048:R350H	.|ENSP00000265085:R350H	A|R	+|+	1|2	0|0	CPEB4|CPEB4	173250391|173250391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.827000|9.827000	0.99397|0.99397	2.500000|2.500000	0.84329|0.84329	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.453	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
CPEB4	80315	broad.mit.edu	37	5	173378936	173378936	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:173378936G>A	ENST00000265085.5	+	8	3229	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	CPEB4_ENST00000517880.1_Missense_Mutation_p.R185Q|CPEB4_ENST00000522336.1_Missense_Mutation_p.R202Q|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R575Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R567Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R567Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	592	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R592Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGACCATTACGAGCTGGTATG	0.408																																					p.R592Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1775A	5						.						126.0	107.0	114.0					5																	173378936		2203	4300	6503	173311542	SO:0001583	missense	80315	exon8			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1775G>A	5.37:g.173378936G>A	ENSP00000265085:p.Arg592Gln	Somatic		Capture	Illumina HiSeq	Phase_I	173311542	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830032	0.91036	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	L	0.32530	0.975	0.80722	D	1	D;D;D;P;D	0.76494	0.997;0.996;0.999;0.895;0.997	P;D;P;B;P	0.64595	0.848;0.927;0.895;0.285;0.848	T	0.08310	-1.0728	10	0.72032	D	0.01	-8.5689	19.6502	0.95798	0.0:0.0:1.0:0.0	.	567;575;567;202;592	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	Q	592;567;575;567;202;185	ENSP00000265085:R592Q;ENSP00000429092:R567Q;ENSP00000334533:R575Q;ENSP00000429048:R567Q;ENSP00000430345:R202Q;ENSP00000427990:R185Q	ENSP00000265085:R592Q	R	+	2	0	CPEB4	173311542	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.813000	0.99286	2.714000	0.92807	0.650000	0.86243	CGA		0.408	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
MSX2	4488	broad.mit.edu	37	5	174156373	174156373	+	Silent	SNP	G	G	A	rs150352201		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:174156373G>A	ENST00000239243.6	+	2	718	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	197					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.A197A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGCCAAGGCGAAAAGACTGC	0.542																																					p.A197A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G591A	5						.	G		0,4406		0,0,2203	62.0	63.0	62.0		591	-11.1	0.5	5	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MSX2	NM_002449.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		197/268	174156373	1,13005	2203	4300	6503	174088979	SO:0001819	synonymous_variant	4488	exon2			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.591G>A	5.37:g.174156373G>A		Somatic		Capture	Illumina HiSeq	Phase_I	174088979	NM_002449	D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	CCDS4392.1																																																																																				0.542	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3		
DRD1	1812	broad.mit.edu	37	5	174869971	174869971	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:174869971G>A	ENST00000393752.2	-	2	1124	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	44					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V44V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGGCAGCACAGACCAGCGTGT	0.577																																					p.V44V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	5						.						97.0	84.0	88.0					5																	174869971		2203	4300	6503	174802577	SO:0001819	synonymous_variant	1812	exon2			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.132C>T	5.37:g.174869971G>A		Somatic		Capture	Illumina HiSeq	Phase_I	174802577	NM_000794	B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	CCDS4393.1																																																																																				0.577	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794	
HRH2	3274	broad.mit.edu	37	5	175110579	175110579	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:175110579G>A	ENST00000231683.2	+	1	2116	c.343G>A	c.(343-345)Gac>Aac	p.D115N	HRH2_ENST00000377291.2_Missense_Mutation_p.D115N	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	115					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.D115N(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GATCAGCCTCGACCGGTACTG	0.537																																					p.D115N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	5						.						120.0	101.0	108.0					5																	175110579		2203	4300	6503	175043185	SO:0001583	missense	3274	exon1				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.343G>A	5.37:g.175110579G>A	ENSP00000231683:p.Asp115Asn	Somatic		Capture	Illumina HiSeq	Phase_I	175043185	NM_022304	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795476	0.90453	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.85484	-1.99;-1.99	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96459	0.9340	10	0.87932	D	0	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	115;115	P25021;Q7Z5R9	HRH2_HUMAN;.	N	115	ENSP00000366506:D115N;ENSP00000231683:D115N	ENSP00000231683:D115N	D	+	1	0	HRH2	175043185	1.000000	0.71417	0.952000	0.39060	0.924000	0.55760	8.010000	0.88615	2.579000	0.87056	0.462000	0.41574	GAC		0.537	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
HRH2	3274	broad.mit.edu	37	5	175111105	175111105	+	Missense_Mutation	SNP	C	C	T	rs367866082		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:175111105C>T	ENST00000231683.2	+	1	2642	c.869C>T	c.(868-870)gCg>gTg	p.A290V	HRH2_ENST00000377291.2_Missense_Mutation_p.A290V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	290					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A290V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTGTATGCTGCGCTGAACAGA	0.572																																					p.A290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	5						.	C	VAL/ALA,VAL/ALA	1,4405		0,1,2202	115.0	91.0	99.0		869,869	4.3	0.0	5		99	0,8600		0,0,4300	no	missense,missense	HRH2	NM_001131055.1,NM_022304.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	290/398,290/360	175111105	1,13005	2203	4300	6503	175043711	SO:0001583	missense	3274	exon1				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.869C>T	5.37:g.175111105C>T	ENSP00000231683:p.Ala290Val	Somatic		Capture	Illumina HiSeq	Phase_I	175043711	NM_022304	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991893	0.35131	2.27E-4	0.0	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.35973	1.28;1.28	5.17	4.29	0.51040	.	0.419437	0.25701	N	0.028870	T	0.25269	0.0614	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.23650	0.089;0.055	B;B	0.17433	0.018;0.012	T	0.09618	-1.0666	10	0.16896	T	0.51	.	12.1869	0.54245	0.0:0.918:0.0:0.082	.	290;290	P25021;Q7Z5R9	HRH2_HUMAN;.	V	290	ENSP00000366506:A290V;ENSP00000231683:A290V	ENSP00000231683:A290V	A	+	2	0	HRH2	175043711	0.958000	0.32768	0.004000	0.12327	0.299000	0.27559	4.785000	0.62418	2.420000	0.82092	0.555000	0.69702	GCG		0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
CDHR2	54825	broad.mit.edu	37	5	176011589	176011589	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176011589G>A	ENST00000510636.1	+	19	2581	c.2307G>A	c.(2305-2307)gaG>gaA	p.E769E	CDHR2_ENST00000506348.1_Silent_p.E769E|CDHR2_ENST00000261944.5_Silent_p.E769E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	769	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E769E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGATTACGAGACACAGCCCG	0.602																																					p.E769E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2307A	5						.						66.0	68.0	67.0					5																	176011589		2203	4300	6503	175944195	SO:0001819	synonymous_variant	54825	exon19			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2307G>A	5.37:g.176011589G>A		Somatic		Capture	Illumina HiSeq	Phase_I	175944195	NM_001171976	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																				0.602	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
GPRIN1	114787	broad.mit.edu	37	5	176025065	176025065	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176025065C>A	ENST00000303991.4	-	2	1948	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	591					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.D591Y(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACACGGGATCCACCTTCCCC	0.562																																					p.D591Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1771T	5						.						79.0	81.0	81.0					5																	176025065		2203	4300	6503	175957671	SO:0001583	missense	114787	exon2			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1771G>T	5.37:g.176025065C>A	ENSP00000305839:p.Asp591Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	175957671	NM_052899	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925034	0.52759	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.14766	2.48	3.49	2.59	0.31030	.	0.775970	0.10551	N	0.661508	T	0.25457	0.0619	L	0.57536	1.79	0.09310	N	1	D	0.60160	0.987	P	0.55391	0.775	T	0.07424	-1.0773	10	0.62326	D	0.03	-1.7276	9.7282	0.40344	0.0:0.8891:0.0:0.1109	.	591	Q7Z2K8	GRIN1_HUMAN	Y	591	ENSP00000305839:D591Y	ENSP00000305839:D591Y	D	-	1	0	GPRIN1	175957671	0.008000	0.16893	0.012000	0.15200	0.162000	0.22319	0.885000	0.28227	1.477000	0.48234	0.450000	0.29827	GAT		0.562	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
GPRIN1	114787	broad.mit.edu	37	5	176025748	176025748	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176025748G>T	ENST00000303991.4	-	2	1265	c.1088C>A	c.(1087-1089)aCt>aAt	p.T363N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	363					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.T363N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGGCACAGTTTCTACATT	0.607																																					p.T363N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1088A	5						.						44.0	43.0	43.0					5																	176025748		2203	4300	6503	175958354	SO:0001583	missense	114787	exon2			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1088C>A	5.37:g.176025748G>T	ENSP00000305839:p.Thr363Asn	Somatic		Capture	Illumina HiSeq	Phase_I	175958354	NM_052899	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820664	0.32145	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10477	2.87	4.83	-2.84	0.05751	.	0.662404	0.12631	N	0.452177	T	0.08582	0.0213	L	0.50333	1.59	0.09310	N	1	B	0.31859	0.343	B	0.33254	0.16	T	0.37291	-0.9712	10	0.18276	T	0.48	0.0014	6.7949	0.23719	0.4251:0.1135:0.4614:0.0	.	363	Q7Z2K8	GRIN1_HUMAN	N	363	ENSP00000305839:T363N	ENSP00000305839:T363N	T	-	2	0	GPRIN1	175958354	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.233000	0.09041	-0.985000	0.03503	-0.463000	0.05309	ACT		0.607	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
ZNF346	23567	broad.mit.edu	37	5	176477792	176477792	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176477792C>A	ENST00000358149.3	+	5	601	c.558C>A	c.(556-558)ttC>ttA	p.F186L	ZNF346_ENST00000503425.1_Missense_Mutation_p.F154L|ZNF346_ENST00000261948.4_Missense_Mutation_p.F211L|ZNF346_ENST00000506693.1_Missense_Mutation_p.F88L|ZNF346_ENST00000503039.1_Missense_Mutation_p.F211L|ZNF346_ENST00000511834.1_Missense_Mutation_p.F202L|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000512315.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	186					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F186L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACAAGTTCTGCAGCCTCT	0.478																																					p.F186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C558A	5						.						112.0	105.0	107.0					5																	176477792		2203	4300	6503	176410398	SO:0001583	missense	23567	exon5			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.558C>A	5.37:g.176477792C>A	ENSP00000350869:p.Phe186Leu	Somatic		Capture	Illumina HiSeq	Phase_I	176410398	NM_012279	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219181	0.95104	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.044446	0.85682	D	0.000000	T	0.42585	0.1209	M	0.68952	2.095	0.58432	D	0.999996	P;D;D;P	0.57899	0.908;0.973;0.981;0.855	P;P;P;P	0.57776	0.676;0.827;0.734;0.455	T	0.15896	-1.0421	10	0.46703	T	0.11	.	19.3255	0.94260	0.0:1.0:0.0:0.0	.	88;154;211;186	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	L	186;88;154;211;202;211	ENSP00000350869:F186L;ENSP00000423515:F88L;ENSP00000421212:F154L;ENSP00000261948:F211L;ENSP00000425725:F202L;ENSP00000424495:F211L	ENSP00000261948:F211L	F	+	3	2	ZNF346	176410398	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.217000	0.65252	2.544000	0.85801	0.655000	0.94253	TTC		0.478	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	
NSD1	64324	broad.mit.edu	37	5	176562133	176562133	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176562133G>T	ENST00000439151.2	+	2	74	c.29G>T	c.(28-30)aGa>aTa	p.R10I	NSD1_ENST00000511258.1_5'UTR|NSD1_ENST00000354179.4_5'UTR|NSD1_ENST00000347982.4_5'UTR|NSD1_ENST00000361032.4_Missense_Mutation_p.R10I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	10					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R10I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTACCCAGAAGAAATTGTCTG	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R10I			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G29T	5						.						101.0	105.0	104.0					5																	176562133		2203	4300	6503	176494739	SO:0001583	missense	64324	exon2	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.29G>T	5.37:g.176562133G>T	ENSP00000395929:p.Arg10Ile	Somatic		Capture	Illumina HiSeq	Phase_I	176494739	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661832	0.67700	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93307	-3.14;-3.2	5.19	5.19	0.71726	.	0.110120	0.41294	N	0.000907	D	0.92502	0.7619	N	0.08118	0	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.71656	0.974;0.942;0.961	D	0.94455	0.7671	10	0.87932	D	0	.	17.6524	0.88168	0.0:0.0:1.0:0.0	.	10;10;10	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	I	10	ENSP00000395929:R10I;ENSP00000354310:R10I	ENSP00000354310:R10I	R	+	2	0	NSD1	176494739	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.839000	0.55835	2.686000	0.91538	0.650000	0.86243	AGA		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176618976	176618976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176618976G>T	ENST00000439151.2	+	3	1064	c.1019G>T	c.(1018-1020)aGg>aTg	p.R340M	NSD1_ENST00000354179.4_Missense_Mutation_p.R71M|NSD1_ENST00000347982.4_Missense_Mutation_p.R71M|NSD1_ENST00000361032.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	340	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R340M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGCCCTGCAGGATTTGTTCT	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R340M			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1019T	5						.						94.0	96.0	95.0					5																	176618976		2203	4300	6503	176551582	SO:0001583	missense	64324	exon3	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1019G>T	5.37:g.176618976G>T	ENSP00000395929:p.Arg340Met	Somatic		Capture	Illumina HiSeq	Phase_I	176551582	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257738	0.39896	.	.	ENSG00000165671	ENST00000510954;ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.44	3.64	0.41730	PWWP (3);	0.363720	0.23472	N	0.047808	T	0.51975	0.1706	N	0.16656	0.425	0.28299	N	0.923203	P;P	0.43231	0.763;0.801	P;P	0.50791	0.518;0.65	T	0.46289	-0.9202	10	0.08599	T	0.76	.	5.322	0.15885	0.2435:0.1476:0.6089:0.0	.	71;340	Q96L73-2;Q96L73	.;NSD1_HUMAN	M	71;71;71;71;340;71	ENSP00000423982:R71M;ENSP00000346111:R71M;ENSP00000423372:R71M;ENSP00000395929:R340M;ENSP00000343209:R71M	ENSP00000343209:R71M	R	+	2	0	NSD1	176551582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.470000	0.35354	0.665000	0.31066	0.591000	0.81541	AGG		0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176639039	176639039	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176639039A>G	ENST00000439151.2	+	5	3684	c.3639A>G	c.(3637-3639)atA>atG	p.I1213M	NSD1_ENST00000354179.4_Missense_Mutation_p.I944M|NSD1_ENST00000347982.4_Missense_Mutation_p.I944M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1110M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1213					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I1213M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCAAGCATACTTGAGGAAC	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.I1213M			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3639G	5						.						85.0	83.0	83.0					5																	176639039		2203	4300	6503	176571645	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3639A>G	5.37:g.176639039A>G	ENSP00000395929:p.Ile1213Met	Somatic		Capture	Illumina HiSeq	Phase_I	176571645	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	6.515	0.463171	0.12402	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94046	-3.25;-3.25;-3.25;-3.34	4.49	-2.69	0.06022	.	1.015180	0.07885	N	0.970256	D	0.87002	0.6069	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32526	0.374;0.374;0.257	B;B;B	0.41764	0.366;0.203;0.131	T	0.77640	-0.2512	9	.	.	.	.	7.8663	0.29539	0.238:0.6434:0.1186:0.0	.	944;1110;1213	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	944;1213;944;1110	ENSP00000346111:I944M;ENSP00000395929:I1213M;ENSP00000343209:I944M;ENSP00000354310:I1110M	.	I	+	3	3	NSD1	176571645	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.105000	0.15333	-0.291000	0.09012	-0.313000	0.08912	ATA		0.478	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176662835	176662835	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176662835G>T	ENST00000439151.2	+	6	3855	c.3810G>T	c.(3808-3810)gaG>gaT	p.E1270D	NSD1_ENST00000354179.4_Missense_Mutation_p.E1001D|NSD1_ENST00000347982.4_Missense_Mutation_p.E1001D|NSD1_ENST00000361032.4_Missense_Mutation_p.E1167D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1270					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1270D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCGGTCAGAGAAGAAACGCC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.E1270D			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3810T	5						.						57.0	60.0	59.0					5																	176662835		2203	4300	6503	176595441	SO:0001583	missense	64324	exon6	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3810G>T	5.37:g.176662835G>T	ENSP00000395929:p.Glu1270Asp	Somatic		Capture	Illumina HiSeq	Phase_I	176595441	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117959	0.77323	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96992	-4.17;-4.17;-4.17;-4.2	5.15	4.27	0.50696	.	0.000000	0.56097	D	0.000024	D	0.96112	0.8733	L	0.32530	0.975	0.33865	D	0.634214	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.77557	0.99;0.99;0.978	D	0.97025	0.9746	10	0.59425	D	0.04	.	11.3492	0.49577	0.0888:0.0:0.9112:0.0	.	1001;1167;1270	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	D	1001;1270;1001;1167	ENSP00000346111:E1001D;ENSP00000395929:E1270D;ENSP00000343209:E1001D;ENSP00000354310:E1167D	ENSP00000343209:E1001D	E	+	3	2	NSD1	176595441	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.850000	0.39328	2.421000	0.82119	0.655000	0.94253	GAG		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176665479	176665479	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176665479A>C	ENST00000439151.2	+	7	4208	c.4163A>C	c.(4162-4164)gAg>gCg	p.E1388A	NSD1_ENST00000354179.4_Missense_Mutation_p.E1119A|NSD1_ENST00000347982.4_Missense_Mutation_p.E1119A|NSD1_ENST00000361032.4_Missense_Mutation_p.E1285A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1388					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1388A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGCCCTTGAGTCTGAGGAA	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.E1388A			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4163C	5						.						91.0	92.0	92.0					5																	176665479		2203	4300	6503	176598085	SO:0001583	missense	64324	exon7	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4163A>C	5.37:g.176665479A>C	ENSP00000395929:p.Glu1388Ala	Somatic		Capture	Illumina HiSeq	Phase_I	176598085	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334652	0.60853	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94138	-3.25;-3.27;-3.25;-3.36	5.44	5.44	0.79542	.	0.178473	0.39759	N	0.001264	D	0.85822	0.5786	N	0.19112	0.55	0.31078	N	0.712234	B;P;B	0.36837	0.328;0.571;0.1	B;B;B	0.30855	0.079;0.121;0.036	D	0.86028	0.1511	10	0.41790	T	0.15	.	11.8154	0.52207	1.0:0.0:0.0:0.0	.	1119;1285;1388	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	1119;1388;1119;1285	ENSP00000346111:E1119A;ENSP00000395929:E1388A;ENSP00000343209:E1119A;ENSP00000354310:E1285A	ENSP00000343209:E1119A	E	+	2	0	NSD1	176598085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.745000	0.62125	2.285000	0.76669	0.533000	0.62120	GAG		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
SLC34A1	6569	broad.mit.edu	37	5	176815278	176815278	+	Splice_Site	SNP	C	C	A	rs553501979		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:176815278C>A	ENST00000324417.5	+	8	932	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	SLC34A1_ENST00000512593.1_Splice_Site_p.L281M	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	281					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L281M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCCCACAGCTGGACGAGTC	0.592																																					p.L281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C841A	5						.						124.0	111.0	115.0					5																	176815278		2203	4300	6503	176747884	SO:0001630	splice_region_variant	6569	exon8			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.841-1C>A	5.37:g.176815278C>A		Somatic		Capture	Illumina HiSeq	Phase_I	176747884	NM_001167579	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354300	0.41700	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.55760	0.5;1.12	5.28	3.14	0.36123	.	0.000000	0.64402	D	0.000005	T	0.76364	0.3977	M	0.92604	3.325	0.41246	D	0.986674	D	0.89917	1.0	D	0.83275	0.996	T	0.81835	-0.0750	9	.	.	.	-1.6293	11.5165	0.50524	0.0:0.7781:0.0:0.2219	.	281	Q06495	NPT2A_HUMAN	M	281	ENSP00000423022:L281M;ENSP00000321424:L281M	.	L	+	1	2	SLC34A1	176747884	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	2.504000	0.45416	1.243000	0.43853	0.561000	0.74099	CTG		0.592	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	Missense_Mutation
PROP1	5626	broad.mit.edu	37	5	177421251	177421251	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGAGTGCGGGCGGCCCC	0.662																																					p.P66P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G198A	5						.						34.0	37.0	36.0					5																	177421251		2203	4300	6503	177353857	SO:0001819	synonymous_variant	5626	exon2			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T		Somatic		Capture	Illumina HiSeq	Phase_I	177353857	NM_006261		Silent	SNP	ENST00000308304.2	37	CCDS4430.1																																																																																				0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261	
PHYKPL	85007	broad.mit.edu	37	5	177633801	177633801	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:177633801G>T	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K149N|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K149N|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K149N|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K149N|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K149N|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.K149N|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K149N	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.K149N(1)								L-Alanine(DB00160)	TGGCTATGAAGAAGGACCCGG	0.527																																					p.K149N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	5						.						81.0	88.0	86.0					5																	177633801		2203	4300	6503	177566407	SO:0001628	intergenic_variant	3182	exon4			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177633801G>T		Somatic		Capture	Illumina HiSeq	Phase_I	177566407	NM_031266	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591601	0.66219	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.12	3.34	0.38264	.	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	L	0.37561	1.115	0.50632	D	0.999884	D;D;D	0.71674	0.983;0.99;0.998	P;D;D	0.71656	0.889;0.948;0.974	D	0.87699	0.2559	10	0.87932	D	0	.	7.0842	0.25247	0.2778:0.0:0.7222:0.0	.	149;149;149	D6RD18;Q99729-3;Q99729-2	.;.;.	N	149	ENSP00000351108:K149N;ENSP00000422501:K149N;ENSP00000348093:K149N;ENSP00000427110:K149N;ENSP00000423495:K149N;ENSP00000427465:K149N;ENSP00000425031:K149N	ENSP00000348093:K149N	K	+	3	2	HNRNPAB	177566407	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.260000	0.32968	0.549000	0.28973	0.313000	0.20887	AAG		0.527	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
PHYKPL	85007	broad.mit.edu	37	5	177636358	177636358	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:177636358G>T	ENST00000308158.5	-	13	1619				HNRNPAB_ENST00000515193.1_Nonsense_Mutation_p.E233*|HNRNPAB_ENST00000506259.1_Nonsense_Mutation_p.E233*|HNRNPAB_ENST00000355836.5_Nonsense_Mutation_p.E233*|HNRNPAB_ENST00000506339.1_Nonsense_Mutation_p.E233*|HNRNPAB_ENST00000504898.1_Nonsense_Mutation_p.E233*|HNRNPAB_ENST00000358344.3_Nonsense_Mutation_p.E233*|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000514633.1_Nonsense_Mutation_p.E233*	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E233*(1)								L-Alanine(DB00160)	CCAGCCCAAAGAAGTCTATCA	0.577																																					p.E233X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G697T	5						.						98.0	94.0	95.0					5																	177636358		2203	4300	6503	177568964	SO:0001627	intron_variant	3182	exon6			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-442C>A	5.37:g.177636358G>T		Somatic		Capture	Illumina HiSeq	Phase_I	177568964	NM_031266	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Nonsense_Mutation	SNP	ENST00000308158.5	37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	37	6.152623	0.97329	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	.	.	.	4.87	4.0	0.46444	.	0.171941	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8124	0.46555	0.0939:0.0:0.9061:0.0	.	.	.	.	X	233	.	ENSP00000348093:E233X	E	+	1	0	HNRNPAB	177568964	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	7.493000	0.81493	1.024000	0.39682	0.305000	0.20034	GAA		0.577	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
ZNF354A	6940	broad.mit.edu	37	5	178139258	178139258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178139258G>A	ENST00000335815.2	-	5	1818	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	541					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)	p.R541*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGAATCCTTCGATGCTGAATA	0.373																																					p.R541X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1621T	5						.						123.0	120.0	121.0					5																	178139258		2203	4300	6503	178071864	SO:0001587	stop_gained	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1621C>T	5.37:g.178139258G>A	ENSP00000337122:p.Arg541*	Somatic		Capture	Illumina HiSeq	Phase_I	178071864	NM_005649	Q9UNJ8	Nonsense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	37	5.980928	0.97168	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.96	2.01	0.26516	.	0.000000	0.29034	N	0.013346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-4.3248	11.9763	0.53094	0.0:0.0:0.3925:0.6075	.	.	.	.	X	541	.	ENSP00000337122:R541X	R	-	1	2	ZNF354A	178071864	0.002000	0.14202	0.423000	0.26634	0.979000	0.70002	0.171000	0.16685	0.302000	0.22762	0.650000	0.86243	CGA		0.373	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
ZNF354A	6940	broad.mit.edu	37	5	178139338	178139338	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178139338C>A	ENST00000335815.2	-	5	1738	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	514					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)	p.R514I(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGTATGAATTCTCTGGTGATT	0.398																																					p.R514I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1541T	5						.						113.0	111.0	112.0					5																	178139338		2203	4300	6503	178071944	SO:0001583	missense	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1541G>T	5.37:g.178139338C>A	ENSP00000337122:p.Arg514Ile	Somatic		Capture	Illumina HiSeq	Phase_I	178071944	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454256	0.63290	.	.	ENSG00000169131	ENST00000335815	T	0.24908	1.83	5.26	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003789	T	0.40522	0.1120	L	0.47190	1.495	0.45035	D	0.998058	D	0.89917	1.0	D	0.87578	0.998	T	0.20974	-1.0259	10	0.59425	D	0.04	-19.5819	10.1317	0.42682	0.0:0.8316:0.0:0.1683	.	514	O60765	Z354A_HUMAN	I	514	ENSP00000337122:R514I	ENSP00000337122:R514I	R	-	2	0	ZNF354A	178071944	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	1.176000	0.31957	1.460000	0.47911	0.650000	0.86243	AGA		0.398	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
ZNF354B	117608	broad.mit.edu	37	5	178310672	178310672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178310672G>T	ENST00000322434.3	+	5	1445	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	407					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)	p.E407*(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACACCGGAGAAAAGCCCTA	0.393																																					p.E407X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1219T	5						.						35.0	40.0	38.0					5																	178310672		2188	4288	6476	178243278	SO:0001587	stop_gained	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1219G>T	5.37:g.178310672G>T	ENSP00000327143:p.Glu407*	Somatic		Capture	Illumina HiSeq	Phase_I	178243278	NM_058230	A8K0V2|Q5U5Z4	Nonsense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	38	7.259046	0.98168	.	.	ENSG00000178338	ENST00000322434	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-33.7794	12.5651	0.56306	0.0:0.0:1.0:0.0	.	.	.	.	X	407	.	ENSP00000327143:E407X	E	+	1	0	ZNF354B	178243278	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.787000	0.55439	1.789000	0.52484	0.555000	0.69702	GAA		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZFP2	80108	broad.mit.edu	37	5	178359169	178359169	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178359169T>C	ENST00000361362.2	+	5	1385	c.855T>C	c.(853-855)ctT>ctC	p.L285L	ZFP2_ENST00000503510.2_Silent_p.L285L|ZFP2_ENST00000520301.1_Silent_p.L285L|ZFP2_ENST00000523286.1_Silent_p.L285L	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	285					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)	p.L285L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GCTCAACTCTTACCCTACATC	0.388																																					p.L285L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T855C	5						.						74.0	76.0	75.0					5																	178359169		2203	4300	6503	178291775	SO:0001819	synonymous_variant	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.855T>C	5.37:g.178359169T>C		Somatic		Capture	Illumina HiSeq	Phase_I	178291775	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	CCDS4440.1																																																																																				0.388	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
ZNF454	285676	broad.mit.edu	37	5	178391689	178391689	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178391689C>A	ENST00000320129.3	+	5	587	c.284C>A	c.(283-285)aCt>aAt	p.T95N	ZNF454_ENST00000519564.1_Missense_Mutation_p.T95N	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	95					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)	p.T95N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAGAAATCTACTGTCAAGGCA	0.413																																					p.T95N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	5						.						46.0	48.0	47.0					5																	178391689		2203	4300	6503	178324295	SO:0001583	missense	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.284C>A	5.37:g.178391689C>A	ENSP00000326249:p.Thr95Asn	Somatic		Capture	Illumina HiSeq	Phase_I	178324295	NM_182594	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	5.806	0.333020	0.11013	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.08008	3.14;3.14	5.05	2.14	0.27477	.	1.053860	0.07567	N	0.917997	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.25884	0.064	T	0.47446	-0.9117	10	0.18276	T	0.48	-1.7883	4.7448	0.13031	0.0:0.6211:0.1788:0.2002	.	95	Q8N9F8	ZN454_HUMAN	N	95	ENSP00000326249:T95N;ENSP00000430354:T95N	ENSP00000326249:T95N	T	+	2	0	ZNF454	178324295	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.111000	0.10807	0.703000	0.31848	0.650000	0.86243	ACT		0.413	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF454	285676	broad.mit.edu	37	5	178392048	178392048	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178392048A>C	ENST00000320129.3	+	5	946	c.643A>C	c.(643-645)Aga>Cga	p.R215R	ZNF454_ENST00000519564.1_Silent_p.R215R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	215					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)	p.R215R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TAAGGAGAAAAGATATGAATG	0.348																																					p.R215R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A643C	5						.						58.0	63.0	61.0					5																	178392048		2203	4300	6503	178324654	SO:0001819	synonymous_variant	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.643A>C	5.37:g.178392048A>C		Somatic		Capture	Illumina HiSeq	Phase_I	178324654	NM_182594	Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	CCDS4441.1																																																																																				0.348	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF454	285676	broad.mit.edu	37	5	178392411	178392411	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:178392411G>A	ENST00000320129.3	+	5	1309	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	ZNF454_ENST00000519564.1_Missense_Mutation_p.A336T	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	336					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)	p.A336T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATGTGGAAAAGCCTTTAATCA	0.418																																					p.A336T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	5						.						55.0	59.0	58.0					5																	178392411		2203	4300	6503	178325017	SO:0001583	missense	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1006G>A	5.37:g.178392411G>A	ENSP00000326249:p.Ala336Thr	Somatic		Capture	Illumina HiSeq	Phase_I	178325017	NM_182594	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415418	0.25552	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.36157	1.27;1.27	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000973	T	0.24928	0.0605	N	0.11560	0.145	0.27396	N	0.954987	P	0.43788	0.817	P	0.47744	0.556	T	0.05835	-1.0861	10	0.30078	T	0.28	-2.0073	9.6297	0.39772	0.0:0.0:0.7917:0.2083	.	336	Q8N9F8	ZN454_HUMAN	T	336	ENSP00000326249:A336T;ENSP00000430354:A336T	ENSP00000326249:A336T	A	+	1	0	ZNF454	178325017	0.021000	0.18746	1.000000	0.80357	0.040000	0.13550	0.673000	0.25203	2.344000	0.79699	0.650000	0.86243	GCC		0.418	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
HNRNPH1	3187	broad.mit.edu	37	5	179044626	179044626	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179044626T>G	ENST00000356731.5	-	8	2481	c.946A>C	c.(946-948)Aga>Cga	p.R316R	HNRNPH1_ENST00000510411.1_Silent_p.R316R|HNRNPH1_ENST00000329433.6_Silent_p.R316R|HNRNPH1_ENST00000511300.2_Silent_p.R46R|HNRNPH1_ENST00000393432.4_Silent_p.R316R|HNRNPH1_ENST00000442819.2_Silent_p.R316R|HNRNPH1_ENST00000524180.1_5'Flank			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	316	2 X 16 AA Gly-rich approximate repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.R316R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATGTGTACTCTCACAGGGTTG	0.388																																					p.R316R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A946C	5						.						97.0	95.0	96.0					5																	179044626		2203	4300	6503	178977232	SO:0001819	synonymous_variant	3187	exon9			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.946A>C	5.37:g.179044626T>G		Somatic		Capture	Illumina HiSeq	Phase_I	178977232	NM_005520	B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	t	7.995	0.754200	0.15778	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.68	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6743	13.5847	0.61924	0.0:0.0:0.3027:0.6973	.	.	.	.	C	190	.	.	X	-	3	0	HNRNPH1	178977232	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.577000	0.53885	1.067000	0.40740	-0.321000	0.08615	TGA		0.388	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	
RNF130	55819	broad.mit.edu	37	5	179440072	179440072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179440072C>T	ENST00000261947.4	-	3	1080	c.682G>A	c.(682-684)Gac>Aac	p.D228N	MIR340_ENST00000362125.1_RNA|RNF130_ENST00000521389.1_Missense_Mutation_p.D228N|RNF130_ENST00000522208.2_Missense_Mutation_p.D228N	NM_001280801.1	NP_001267730.1			ring finger protein 130									p.D228N(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTCCTGTCGCGTGCATTT	0.403																																					p.D228N	GBM(24;432 554 38471 39699 51728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	5						.						188.0	162.0	171.0					5																	179440072		2203	4300	6503	179372678	SO:0001583	missense	55819	exon3			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.682G>A	5.37:g.179440072C>T	ENSP00000261947:p.Asp228Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179372678	NM_018434		Missense_Mutation	SNP	ENST00000261947.4	37		.	.	.	.	.	.	.	.	.	.	C	27.3	4.818927	0.90873	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.05382	3.46;3.45;3.48	5.79	5.79	0.91817	.	0.045332	0.85682	D	0.000000	T	0.07863	0.0197	L	0.38175	1.15	0.80722	D	1	P;P	0.46142	0.873;0.751	B;B	0.41135	0.348;0.246	T	0.44682	-0.9312	10	0.15499	T	0.54	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	245;228	Q59EL1;Q86XS8	.;GOLI_HUMAN	N	228	ENSP00000429509:D228N;ENSP00000430237:D228N;ENSP00000261947:D228N	ENSP00000261947:D228N	D	-	1	0	RNF130	179372678	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	4.792000	0.62467	2.723000	0.93209	0.655000	0.94253	GAC		0.403	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
GFPT2	9945	broad.mit.edu	37	5	179739524	179739524	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179739524G>T	ENST00000253778.8	-	15	1621	c.1452C>A	c.(1450-1452)atC>atA	p.I484I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	484	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.I484I(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCACCAGAGAGATGAACTGAC	0.413																																					p.I484I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1452A	5						.						99.0	93.0	95.0					5																	179739524		1941	4140	6081	179672130	SO:0001819	synonymous_variant	9945	exon15			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1452C>A	5.37:g.179739524G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179672130	NM_005110	Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	CCDS43411.1																																																																																				0.413	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
CNOT6	57472	broad.mit.edu	37	5	179992944	179992944	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179992944C>A	ENST00000393356.1	+	9	1108	c.684C>A	c.(682-684)atC>atA	p.I228I	CNOT6_ENST00000261951.4_Silent_p.I228I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	228	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.I228I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTCAAGAAATCTTGAGCTGCA	0.428																																					p.I228I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C684A	5						.						100.0	91.0	94.0					5																	179992944		2203	4300	6503	179925550	SO:0001819	synonymous_variant	57472	exon7			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.684C>A	5.37:g.179992944C>A		Somatic		Capture	Illumina HiSeq	Phase_I	179925550	NM_015455	A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	CCDS4455.1																																																																																				0.428	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	
OR2Y1	134083	broad.mit.edu	37	5	180166678	180166678	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:180166678A>G	ENST00000307832.2	-	1	421	c.381T>C	c.(379-381)tgT>tgC	p.C127C		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C127C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGTGGACGACAGACAGCAG	0.592																																					p.C127C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T381C	5						.						75.0	63.0	67.0					5																	180166678		2203	4300	6503	180099284	SO:0001819	synonymous_variant	134083	exon1			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.381T>C	5.37:g.180166678A>G		Somatic		Capture	Illumina HiSeq	Phase_I	180099284	NM_001001657	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	CCDS34323.1																																																																																				0.592	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682	
TRIM7	81786	broad.mit.edu	37	5	180626117	180626117	+	Splice_Site	SNP	C	C	T	rs267600589		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:180626117C>T	ENST00000274773.7	-	4	911	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Splice_Site_p.E76K|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Splice_Site_p.E102K|TRIM7_ENST00000422067.2_Splice_Site_p.E76K|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000361809.3_Splice_Site_p.E76K	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	284						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E284K(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTTTGAATTCCTGGAAGGAA	0.493																																					p.E284K	Esophageal Squamous(128;2258 2308 35507 48647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	5						.						120.0	125.0	123.0					5																	180626117		2203	4300	6503	180558723	SO:0001630	splice_region_variant	81786	exon4			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.850-1G>A	5.37:g.180626117C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180558723	NM_203293	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.740392	0.49045	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	4.5	4.5	0.54988	.	0.481288	0.18788	N	0.131123	T	0.06096	0.0158	L	0.40543	1.245	0.31871	N	0.619706	B;B	0.24258	0.1;0.082	B;B	0.21917	0.024;0.037	T	0.02064	-1.1220	10	0.72032	D	0.01	.	13.4451	0.61136	0.0:1.0:0.0:0.0	.	284;102	Q9C029;Q9C029-4	TRIM7_HUMAN;.	K	284;76;76;102;76	ENSP00000274773:E284K;ENSP00000376991:E76K;ENSP00000355059:E76K;ENSP00000376994:E102K;ENSP00000391458:E76K	ENSP00000274773:E284K	E	-	1	0	TRIM7	180558723	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	4.107000	0.57811	2.461000	0.83175	0.550000	0.68814	GAA		0.493	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296	Missense_Mutation
PLEKHG4B	153478	broad.mit.edu	37	5	156195	156195	+	Missense_Mutation	SNP	G	G	A	rs138938524		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:156195G>A	ENST00000283426.6	+	8	1200	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	384							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E384K(2)|p.E384*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGTCGCCGAGTTAATTGA	0.582																																					p.E384K												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|ovary(1)	c.G1150A	5						.	G	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	125.0	116.0	119.0		1150	0.6	0.0	5	dbSNP_134	119	0,8600		0,0,4300	no	missense	PLEKHG4B	NM_052909.3	56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	384/1272	156195	3,13003	2203	4300	6503	209195	SO:0001583	missense	153478	exon8			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1150G>A	5.37:g.156195G>A	ENSP00000283426:p.Glu384Lys	Somatic		Capture	Illumina HiSeq	Phase_I	209195	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334320	0.41297	6.81E-4	0.0	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;2.98	3.65	0.651	0.17817	.	.	.	.	.	T	0.30386	0.0763	M	0.63843	1.955	0.09310	N	1	D	0.67145	0.996	P	0.50570	0.644	T	0.17776	-1.0358	9	0.16420	T	0.52	.	2.1558	0.03811	0.1172:0.1948:0.4879:0.2001	.	384	Q96PX9	PKH4B_HUMAN	K	384;298	ENSP00000283426:E384K;ENSP00000422493:E298K	ENSP00000283426:E384K	E	+	1	0	PLEKHG4B	209195	0.997000	0.39634	0.000000	0.03702	0.006000	0.05464	5.044000	0.64214	-0.241000	0.09681	-0.373000	0.07131	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
CCDC127	133957	broad.mit.edu	37	5	205710	205710	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:205710A>G	ENST00000296824.3	-	3	617	c.485T>C	c.(484-486)tTt>tCt	p.F162S		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	162								p.F162S(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AACAGCTTCAAATTCTTTCAG	0.478																																					p.F162S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T485C	5						.						64.0	69.0	68.0					5																	205710		2203	4300	6503	258710	SO:0001583	missense	133957	exon3			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.485T>C	5.37:g.205710A>G	ENSP00000296824:p.Phe162Ser	Somatic		Capture	Illumina HiSeq	Phase_I	258710	NM_145265		Missense_Mutation	SNP	ENST00000296824.3	37	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649803	0.29336	.	.	ENSG00000164366	ENST00000296824	T	0.49720	0.77	5.68	4.48	0.54585	.	0.211643	0.51477	D	0.000096	T	0.46367	0.1389	M	0.72479	2.2	0.34185	D	0.671432	B	0.30973	0.302	B	0.29176	0.099	T	0.60110	-0.7327	10	0.72032	D	0.01	-6.9159	10.2315	0.43258	0.8515:0.0:0.0:0.1485	.	162	Q96BQ5	CC127_HUMAN	S	162	ENSP00000296824:F162S	ENSP00000296824:F162S	F	-	2	0	CCDC127	258710	1.000000	0.71417	0.046000	0.18839	0.097000	0.18754	6.687000	0.74552	0.946000	0.37632	0.459000	0.35465	TTT		0.478	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265	
SDHA	6389	broad.mit.edu	37	5	233687	233687	+	Missense_Mutation	SNP	G	G	A	rs200526913	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:233687G>A	ENST00000264932.6	+	8	1106	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	SDHA_ENST00000510361.1_Missense_Mutation_p.A283T|SDHA_ENST00000504309.1_Missense_Mutation_p.A331T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	331					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.A331T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGCGATACGCCCCTGTCGC	0.527									Familial Paragangliomas				G|||	4	0.000798722	0.0	0.0	5008	,	,		19149	0.004		0.0	False		,,,				2504	0.0				p.A331T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	5						.						175.0	155.0	162.0					5																	233687		2203	4300	6503	286687	SO:0001583	missense	6389	exon8	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.991G>A	5.37:g.233687G>A	ENSP00000264932:p.Ala331Thr	Somatic		Capture	Illumina HiSeq	Phase_I	286687	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	26.7	4.763998	0.89932	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.44881	0.91;0.91;0.91	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.75398	0.3844	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.987;0.971;0.984;0.957;0.957	D	0.84738	0.0749	10	0.87932	D	0	.	15.0787	0.72096	0.0:0.0:1.0:0.0	.	283;331;331;331;337	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	331;186;331;283	ENSP00000264932:A331T;ENSP00000426514:A331T;ENSP00000427703:A283T	ENSP00000264932:A331T	A	+	1	0	SDHA	286687	1.000000	0.71417	0.660000	0.29694	0.702000	0.40608	8.719000	0.91436	2.195000	0.70347	0.650000	0.86243	GCC		0.527	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
ADAMTS16	170690	broad.mit.edu	37	5	5239964	5239964	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:5239964G>A	ENST00000274181.7	+	16	2587	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	817	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D817N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTACTTTCGACTACAGACG	0.517																																					p.D817N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2449A	5						.						98.0	96.0	97.0					5																	5239964		1867	4100	5967	5292964	SO:0001583	missense	170690	exon16			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2449G>A	5.37:g.5239964G>A	ENSP00000274181:p.Asp817Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5292964	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196456	0.22037	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.51325	0.71	5.56	-0.818	0.10833	ADAM-TS Spacer 1 (1);	0.626077	0.16009	N	0.233894	T	0.24586	0.0596	N	0.17674	0.51	0.27034	N	0.964167	B;B	0.18310	0.009;0.027	B;B	0.15484	0.008;0.013	T	0.08868	-1.0701	10	0.38643	T	0.18	.	2.4602	0.04539	0.2123:0.3512:0.3166:0.1199	.	817;817	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	817	ENSP00000274181:D817N	ENSP00000274181:D817N	D	+	1	0	ADAMTS16	5292964	0.589000	0.26807	0.004000	0.12327	0.716000	0.41182	0.845000	0.27668	-0.508000	0.06540	0.655000	0.94253	GAC		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ICE1	23379	broad.mit.edu	37	5	5447605	5447605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:5447605G>A	ENST00000296564.7	+	8	712	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	KIAA0947_ENST00000512608.1_3'UTR	NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		164					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.E164K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTTGAAAAGGAATTTAAGAA	0.398																																					p.E164K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G490A	5						.						30.0	27.0	28.0					5																	5447605		1834	4023	5857	5500605	SO:0001583	missense	23379	exon8																														ENST00000296564.7:c.490G>A	5.37:g.5447605G>A	ENSP00000296564:p.Glu164Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5500605	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469568	0.84533	.	.	ENSG00000164151	ENST00000296564	T	0.11930	2.73	5.87	4.99	0.66335	.	0.065316	0.64402	D	0.000013	T	0.26085	0.0636	L	0.32530	0.975	0.25652	N	0.986085	D	0.89917	1.0	D	0.81914	0.995	T	0.04607	-1.0939	10	0.72032	D	0.01	-34.1908	12.9075	0.58160	0.0:0.1628:0.8372:0.0	.	164	Q9Y2F5	K0947_HUMAN	K	164	ENSP00000296564:E164K	ENSP00000296564:E164K	E	+	1	0	KIAA0947	5500605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.952000	0.56691	1.440000	0.47531	0.655000	0.94253	GAA		0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ADCY2	108	broad.mit.edu	37	5	7695883	7695883	+	Silent	SNP	C	C	T	rs200439471		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:7695883C>T	ENST00000338316.4	+	6	977	c.888C>T	c.(886-888)atC>atT	p.I296I	ADCY2_ENST00000537121.1_Silent_p.I116I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	296					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I296I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACGCTGACATCGTTGGCTTTA	0.408																																					p.I296I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	5						.						92.0	83.0	86.0					5																	7695883		2203	4300	6503	7748883	SO:0001819	synonymous_variant	108	exon6			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.888C>T	5.37:g.7695883C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7748883	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
ADCY2	108	broad.mit.edu	37	5	7773058	7773058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:7773058G>A	ENST00000338316.4	+	18	2317	c.2228G>A	c.(2227-2229)aGc>aAc	p.S743N	ADCY2_ENST00000537121.1_Missense_Mutation_p.S563N	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	743					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.S743N(1)|p.S743I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTATCTACAGCTGCATTCTG	0.473																																					p.S743N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G2228A	5						.						323.0	271.0	289.0					5																	7773058		2203	4300	6503	7826058	SO:0001583	missense	108	exon18			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2228G>A	5.37:g.7773058G>A	ENSP00000342952:p.Ser743Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7826058	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756483	0.49362	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82619	-1.15;-1.63	4.87	4.87	0.63330	.	0.185804	0.56097	D	0.000026	T	0.79953	0.4535	L	0.55834	1.745	0.53005	D	0.999968	B;B	0.21688	0.059;0.042	B;B	0.19148	0.024;0.022	T	0.76677	-0.2871	10	0.39692	T	0.17	.	15.807	0.78520	0.0:0.0:1.0:0.0	.	563;743	B7Z2C1;Q08462	.;ADCY2_HUMAN	N	743;576;563	ENSP00000342952:S743N;ENSP00000444803:S563N	ENSP00000342952:S743N	S	+	2	0	ADCY2	7826058	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.023000	0.93683	2.261000	0.74972	0.467000	0.42956	AGC		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
ADCY2	108	broad.mit.edu	37	5	7789868	7789868	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:7789868C>T	ENST00000338316.4	+	20	2672	c.2583C>T	c.(2581-2583)ccC>ccT	p.P861P	ADCY2_ENST00000537121.1_Silent_p.P681P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	861					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P861P(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACGTGCTTCCCGCGCACGTGG	0.577																																					p.P861P												.	.	3	Substitution - coding silent(3)	large_intestine(1)|lung(1)|central_nervous_system(1)	c.C2583T	5						.						57.0	58.0	57.0					5																	7789868		2203	4300	6503	7842868	SO:0001819	synonymous_variant	108	exon20			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2583C>T	5.37:g.7789868C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7842868	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.577	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
FASTKD3	79072	broad.mit.edu	37	5	7867578	7867578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:7867578G>A	ENST00000264669.5	-	2	755	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	207					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R207C(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTCTGAGACGATTTTGGCAT	0.438																																					p.R207C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C619T	5						.						105.0	105.0	105.0					5																	7867578		2203	4300	6503	7920578	SO:0001583	missense	79072	exon2			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.619C>T	5.37:g.7867578G>A	ENSP00000264669:p.Arg207Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7920578	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544157	0.65198	.	.	ENSG00000124279	ENST00000264669;ENST00000504695	T;T	0.29142	1.58;1.58	4.74	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.58081	-0.7699	10	0.41790	T	0.15	-16.2643	14.4021	0.67053	0.0:0.0:0.8513:0.1487	.	207	Q14CZ7	FAKD3_HUMAN	C	207	ENSP00000264669:R207C;ENSP00000426008:R207C	ENSP00000264669:R207C	R	-	1	0	FASTKD3	7920578	0.999000	0.42202	0.010000	0.14722	0.961000	0.63080	3.154000	0.50693	1.187000	0.43000	0.650000	0.86243	CGT		0.438	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
SEMA5A	9037	broad.mit.edu	37	5	9337844	9337844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:9337844C>A	ENST00000382496.5	-	4	870	c.205G>T	c.(205-207)Gaa>Taa	p.E69*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	69	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.E69*(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACAACAAGTTCTTTCTGTCCT	0.393																																					p.E69X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G205T	5						.						86.0	80.0	82.0					5																	9337844		2203	4300	6503	9390844	SO:0001587	stop_gained	9037	exon4			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.205G>T	5.37:g.9337844C>A	ENSP00000371936:p.Glu69*	Somatic		Capture	Illumina HiSeq	Phase_I	9390844	NM_003966	D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	38	6.961790	0.97967	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	14.6252	0.68616	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000371936:E69X	E	-	1	0	SEMA5A	9390844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.413000	0.66399	2.600000	0.87896	0.655000	0.94253	GAA		0.393	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
CTNND2	1501	broad.mit.edu	37	5	10988364	10988364	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:10988364G>A	ENST00000304623.8	-	20	3401				CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Intron|CTNND2_ENST00000495388.2_Intron|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTACATAAAGAAATCAAAAG	0.527											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						112.0	102.0	106.0					5																	10988364		2203	4300	6503	11041364	SO:0001627	intron_variant	1501	.			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3212-10C>T	5.37:g.10988364G>A		Somatic	668	Capture	Illumina HiSeq	Phase_I	11041364	.	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Intron	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
DNAH5	1767	broad.mit.edu	37	5	13876927	13876927	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:13876927C>A	ENST00000265104.4	-	22	3367		c.e22-1		CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAAGGTATCTAAAAAGAAA	0.323									Kartagener syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						52.0	58.0	56.0					5																	13876927		2203	4300	6503	13929927	SO:0001630	splice_region_variant	1767	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3263-1G>T	5.37:g.13876927C>A		Somatic		Capture	Illumina HiSeq	Phase_I	13929927	.	Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741491	0.69304	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.75	0.96263	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13929927	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.592000	0.74095	2.749000	0.94314	0.655000	0.94253	.		0.323	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron
MYO10	4651	broad.mit.edu	37	5	16763666	16763666	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:16763666G>T	ENST00000513610.1	-	14	1882					NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTGTAGAAAGATTTTAAACA	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						139.0	122.0	127.0					5																	16763666		1825	4091	5916	16816666	SO:0001627	intron_variant	4651	.			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1428-10C>A	5.37:g.16763666G>T		Somatic		Capture	Illumina HiSeq	Phase_I	16816666	.	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Intron	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.343	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
CDH18	1016	broad.mit.edu	37	5	19473834	19473834	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:19473834G>T	ENST00000507958.1	-	15	2873				CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Intron|CDH18_ENST00000382275.1_Intron|CDH18_ENST00000510297.1_Intron|CDH18_ENST00000506372.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCTGAGGAAGAATGGAAAAA	0.398																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	5						.																																			19509591	SO:0001627	intron_variant	1016	.			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1883-9C>A	5.37:g.19473834G>T		Somatic		Capture	Illumina HiSeq	Phase_I	19509591	.	A8K0I2|B4DHG6|Q8N5Z2	Intron	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.398	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19571762	19571762	+	Silent	SNP	G	G	A	rs140338437		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:19571762G>A	ENST00000507958.1	-	10	2169	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	CDH18_ENST00000502796.1_Silent_p.Y393Y|CDH18_ENST00000274170.4_Silent_p.Y393Y|CDH18_ENST00000382275.1_Silent_p.Y393Y|CDH18_ENST00000506372.1_Silent_p.Y393Y|CDH18_ENST00000511273.1_Silent_p.Y393Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y393Y(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGCATTTTCGTAGACTTCCA	0.433																																					p.Y393Y												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.C1179T	5						.	G	,	1,4405	2.1+/-5.4	0,1,2202	157.0	129.0	138.0		1179,1179	-6.2	0.9	5	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH18	NM_001167667.1,NM_004934.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	393/575,393/791	19571762	2,13004	2203	4300	6503	19607519	SO:0001819	synonymous_variant	1016	exon8			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1179C>T	5.37:g.19571762G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19607519	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19571893	19571893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:19571893C>T	ENST00000507958.1	-	10	2038	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	CDH18_ENST00000502796.1_Missense_Mutation_p.A350T|CDH18_ENST00000274170.4_Missense_Mutation_p.A350T|CDH18_ENST00000382275.1_Missense_Mutation_p.A350T|CDH18_ENST00000506372.1_Missense_Mutation_p.A350T|CDH18_ENST00000511273.1_Missense_Mutation_p.A350T			Q13634	CAD18_HUMAN	cadherin 18, type 2	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A350T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTGTATTTGCTCCTTCTATG	0.343																																					p.A350T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1048A	5						.						91.0	88.0	89.0					5																	19571893		2203	4300	6503	19607650	SO:0001583	missense	1016	exon8			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1048G>A	5.37:g.19571893C>T	ENSP00000425093:p.Ala350Thr	Somatic		Capture	Illumina HiSeq	Phase_I	19607650	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574043	0.28092	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.17	5.17	0.71159	Cadherin (5);Cadherin-like (1);	0.224353	0.46442	D	0.000290	T	0.25791	0.0628	N	0.03930	-0.32	0.42617	D	0.993333	B;B	0.26876	0.019;0.162	B;B	0.23018	0.029;0.043	T	0.12993	-1.0526	9	.	.	.	.	17.5963	0.88013	0.0:1.0:0.0:0.0	.	350;350	B4DHG6;Q13634	.;CAD18_HUMAN	T	350;350;350;350;350;350;296;350	ENSP00000371710:A350T;ENSP00000425093:A350T;ENSP00000274170:A350T;ENSP00000424931:A350T;ENSP00000422138:A350T;ENSP00000427383:A296T;ENSP00000425854:A350T	.	A	-	1	0	CDH18	19607650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.808000	0.47963	2.591000	0.87537	0.655000	0.94253	GCA		0.343	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH12	1010	broad.mit.edu	37	5	21817149	21817149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:21817149C>A	ENST00000382254.1	-	9	1993	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.E263*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.E303*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E303*(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTCAATTTCTGCATTTTGT	0.393										HNSCC(59;0.17)																											p.E303X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G907T	5						.						126.0	124.0	125.0					5																	21817149		2203	4300	6503	21852906	SO:0001587	stop_gained	1010	exon9			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.907G>T	5.37:g.21817149C>A	ENSP00000371689:p.Glu303*	Somatic		Capture	Illumina HiSeq	Phase_I	21852906	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.195760	0.99357	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	.	.	.	X	303;303;263	.	ENSP00000371689:E303X	E	-	1	0	CDH12	21852906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.314000	0.78988	2.435000	0.82474	0.585000	0.79938	GAA		0.393	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM9	56979	broad.mit.edu	37	5	23509216	23509216	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:23509216G>T	ENST00000296682.3	+	2	251					NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCATGGTGAGAAGTGGAGGA	0.567										HNSCC(3;0.000094)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						72.0	83.0	79.0					5																	23509216		1995	4169	6164	23544973	SO:0001627	intron_variant	56979	.			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.69+5G>T	5.37:g.23509216G>T		Somatic		Capture	Illumina HiSeq	Phase_I	23544973	.	B4DX22|Q27Q50	Intron	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23521174	23521174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:23521174G>T	ENST00000296682.3	+	6	576	c.394G>T	c.(394-396)Gaa>Taa	p.E132*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	132					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.E132*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGTTTGAAAGAATTGTCAAG	0.423										HNSCC(3;0.000094)																											p.E132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G394T	5						.						95.0	91.0	92.0					5																	23521174		1873	4108	5981	23556931	SO:0001587	stop_gained	56979	exon6			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.394G>T	5.37:g.23521174G>T	ENSP00000296682:p.Glu132*	Somatic		Capture	Illumina HiSeq	Phase_I	23556931	NM_020227	B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.31	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-1.4766	4.6207	0.12449	0.131:0.2267:0.6424:0.0	.	.	.	.	X	132	.	ENSP00000296682:E132X	E	+	1	0	PRDM9	23556931	0.039000	0.19947	0.006000	0.13384	0.012000	0.07955	0.090000	0.15025	0.371000	0.24564	0.531000	0.56144	GAA		0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23522441	23522441	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:23522441G>T	ENST00000296682.3	+	7	719	c.537G>T	c.(535-537)aaG>aaT	p.K179N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	179					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.K179N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGAAAGAAAGATGTATAGCC	0.448										HNSCC(3;0.000094)																											p.K179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G537T	5						.						159.0	163.0	162.0					5																	23522441		1918	4150	6068	23558198	SO:0001583	missense	56979	exon7			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.537G>T	5.37:g.23522441G>T	ENSP00000296682:p.Lys179Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23558198	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	7.110	0.575922	0.13623	.	.	ENSG00000164256	ENST00000296682	T	0.08896	3.04	3.63	-2.61	0.06171	SSXRD motif (1);	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.31256	0.316	B	0.28991	0.097	T	0.39603	-0.9606	9	0.49607	T	0.09	-7.0536	0.4587	0.00513	0.2135:0.1616:0.2959:0.329	.	179	Q9NQV7	PRDM9_HUMAN	N	179	ENSP00000296682:K179N	ENSP00000296682:K179N	K	+	3	2	PRDM9	23558198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.516000	0.06282	-0.270000	0.09285	-4.185000	0.00009	AAG		0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23526841	23526841	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:23526841G>T	ENST00000296682.3	+	11	1826	c.1644G>T	c.(1642-1644)ggG>ggT	p.G548G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	548					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.G548G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACATACAGGGGAGAAGCTCT	0.483										HNSCC(3;0.000094)																											p.G548G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1644T	5						.						85.0	91.0	89.0					5																	23526841		2167	4292	6459	23562598	SO:0001819	synonymous_variant	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1644G>T	5.37:g.23526841G>T		Somatic		Capture	Illumina HiSeq	Phase_I	23562598	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.617	-0.822781	0.02755	.	.	ENSG00000164256	ENST00000253473	.	.	.	2.53	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1746	0.48593	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDM9	23562598	0.196000	0.23350	1.000000	0.80357	0.227000	0.25037	-1.005000	0.03674	1.706000	0.51276	0.400000	0.26472	.		0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23527535	23527535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:23527535G>T	ENST00000296682.3	+	11	2520	c.2338G>T	c.(2338-2340)Gag>Tag	p.E780*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	780					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.E780*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGTCTGCAGGGAGTGTGGGCG	0.592										HNSCC(3;0.000094)																											p.E780X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2338T	5						.						79.0	78.0	78.0					5																	23527535		2186	4291	6477	23563292	SO:0001587	stop_gained	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2338G>T	5.37:g.23527535G>T	ENSP00000296682:p.Glu780*	Somatic		Capture	Illumina HiSeq	Phase_I	23563292	NM_020227	B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238134	0.79800	.	.	ENSG00000164256	ENST00000296682	.	.	.	2.92	1.03	0.20045	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.1469	0.20291	0.1196:0.1914:0.689:0.0	.	.	.	.	X	780	.	ENSP00000296682:E780X	E	+	1	0	PRDM9	23563292	0.000000	0.05858	0.998000	0.56505	0.023000	0.10783	-0.791000	0.04599	0.266000	0.21894	-1.509000	0.00949	GAG		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH10	1008	broad.mit.edu	37	5	24505295	24505295	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:24505295G>T	ENST00000264463.4	-	8	1826	c.1319C>A	c.(1318-1320)tCt>tAt	p.S440Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S440Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTATAAAGAGATCCATTTCC	0.363										HNSCC(23;0.051)																											p.S440Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1319A	5						.						106.0	100.0	102.0					5																	24505295		2203	4300	6503	24541052	SO:0001583	missense	1008	exon8			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1319C>A	5.37:g.24505295G>T	ENSP00000264463:p.Ser440Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24541052	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644262	0.87859	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.055023	0.85682	D	0.000000	T	0.65801	0.2726	M	0.78285	2.405	0.51012	D	0.999909	D	0.56287	0.975	P	0.55260	0.772	T	0.70008	-0.4990	10	0.72032	D	0.01	.	18.5333	0.91000	0.0:0.0:1.0:0.0	.	440	Q9Y6N8	CAD10_HUMAN	Y	440	ENSP00000264463:S440Y	ENSP00000264463:S440Y	S	-	2	0	CDH10	24541052	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	9.405000	0.97313	2.600000	0.87896	0.655000	0.94253	TCT		0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24509886	24509886	+	Missense_Mutation	SNP	C	C	T	rs138533676		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:24509886C>T	ENST00000264463.4	-	7	1552	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E349K(3)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTCTGCTTCGACTTTCAGA	0.378										HNSCC(23;0.051)																											p.E349K												.	.	3	Substitution - Missense(3)	large_intestine(2)|central_nervous_system(1)	c.G1045A	5						.	C	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	71.0	72.0	72.0		1045	5.0	1.0	5	dbSNP_134	72	0,8600		0,0,4300	no	missense	CDH10	NM_006727.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	349/789	24509886	2,13004	2203	4300	6503	24545643	SO:0001583	missense	1008	exon7			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1045G>A	5.37:g.24509886C>T	ENSP00000264463:p.Glu349Lys	Somatic		Capture	Illumina HiSeq	Phase_I	24545643	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973677	0.74246	4.54E-4	0.0	ENSG00000040731	ENST00000264463	T	0.01705	4.68	5.03	5.03	0.67393	Cadherin (5);Cadherin-like (1);	0.048877	0.85682	D	0.000000	T	0.07234	0.0183	L	0.56396	1.775	0.43164	D	0.994951	D	0.62365	0.991	P	0.59424	0.857	T	0.27297	-1.0078	10	0.42905	T	0.14	.	17.6996	0.88291	0.0:1.0:0.0:0.0	.	349	Q9Y6N8	CAD10_HUMAN	K	349	ENSP00000264463:E349K	ENSP00000264463:E349K	E	-	1	0	CDH10	24545643	0.990000	0.36364	0.997000	0.53966	0.879000	0.50718	2.869000	0.48444	2.502000	0.84385	0.561000	0.74099	GAA		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24535915	24535915	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:24535915T>G	ENST00000264463.4	-	4	1050	c.543A>C	c.(541-543)caA>caC	p.Q181H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q181H(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTGTGACTTGCACCACAG	0.458										HNSCC(23;0.051)																											p.Q181H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A543C	5						.						106.0	97.0	100.0					5																	24535915		2203	4300	6503	24571672	SO:0001583	missense	1008	exon4			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.543A>C	5.37:g.24535915T>G	ENSP00000264463:p.Gln181His	Somatic		Capture	Illumina HiSeq	Phase_I	24571672	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483395	0.63962	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.178083	0.51477	D	0.000085	T	0.08492	0.0211	M	0.66560	2.04	0.36602	D	0.874729	D	0.89917	1.0	D	0.77004	0.989	T	0.04268	-1.0964	10	0.87932	D	0	.	11.7296	0.51728	0.0:0.0683:0.0:0.9316	.	181	Q9Y6N8	CAD10_HUMAN	H	181	ENSP00000264463:Q181H	ENSP00000264463:Q181H	Q	-	3	2	CDH10	24571672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.915000	0.28638	1.146000	0.42352	0.533000	0.62120	CAA		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24593582	24593582	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:24593582A>T	ENST00000264463.4	-	2	525	c.18T>A	c.(16-18)ttT>ttA	p.F6L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	6					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F6L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGTAGCAAAAATTGATGTA	0.398										HNSCC(23;0.051)																											p.F6L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T18A	5						.						67.0	58.0	61.0					5																	24593582		2201	4299	6500	24629339	SO:0001583	missense	1008	exon2			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.18T>A	5.37:g.24593582A>T	ENSP00000264463:p.Phe6Leu	Somatic		Capture	Illumina HiSeq	Phase_I	24629339	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483563	0.44147	.	.	ENSG00000040731	ENST00000264463	T	0.52295	0.67	4.37	1.88	0.25563	.	0.671703	0.13951	N	0.351552	T	0.29620	0.0739	L	0.36672	1.1	0.25035	N	0.991247	B	0.02656	0.0	B	0.01281	0.0	T	0.28004	-1.0057	10	0.08599	T	0.76	.	5.0587	0.14546	0.6652:0.1552:0.1795:0.0	.	6	Q9Y6N8	CAD10_HUMAN	L	6	ENSP00000264463:F6L	ENSP00000264463:F6L	F	-	3	2	CDH10	24629339	0.999000	0.42202	0.994000	0.49952	0.979000	0.70002	0.753000	0.26376	0.171000	0.19730	0.477000	0.44152	TTT		0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH9	1007	broad.mit.edu	37	5	26885752	26885752	+	Missense_Mutation	SNP	G	G	A	rs577458372		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:26885752G>A	ENST00000231021.4	-	11	2025	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	618					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A618V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGTAGAATCGCAACGAGAGC	0.512																																					p.A618V	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1853T	5						.						76.0	66.0	69.0					5																	26885752		2203	4300	6503	26921509	SO:0001583	missense	1007	exon11			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1853C>T	5.37:g.26885752G>A	ENSP00000231021:p.Ala618Val	Somatic		Capture	Illumina HiSeq	Phase_I	26921509	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660946	0.96734	.	.	ENSG00000113100	ENST00000231021	T	0.62232	0.04	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.62184	0.754;0.899	D	0.85532	0.1210	9	.	.	.	.	18.82	0.92092	0.0:0.0:1.0:0.0	.	211;618	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	618	ENSP00000231021:A618V	.	A	-	2	0	CDH9	26921509	1.000000	0.71417	0.748000	0.31131	0.943000	0.58893	9.820000	0.99359	2.797000	0.96272	0.563000	0.77884	GCG		0.512	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26890057	26890057	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:26890057T>G	ENST00000231021.4	-	9	1572	c.1400A>C	c.(1399-1401)aAa>aCa	p.K467T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K467T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCTACTTTGTTTTGGGTTATC	0.383																																					p.K467T	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1400C	5						.						148.0	152.0	150.0					5																	26890057		2203	4300	6503	26925814	SO:0001583	missense	1007	exon9			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1400A>C	5.37:g.26890057T>G	ENSP00000231021:p.Lys467Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26925814	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259102	0.39896	.	.	ENSG00000113100	ENST00000231021	T	0.51325	0.71	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.220319	0.43747	D	0.000530	T	0.40909	0.1136	L	0.37697	1.125	0.43622	D	0.996002	B;B	0.33777	0.425;0.028	B;B	0.36766	0.232;0.071	T	0.23583	-1.0184	9	.	.	.	.	14.3453	0.66658	0.0:0.0:0.0:1.0	.	60;467	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	467	ENSP00000231021:K467T	.	K	-	2	0	CDH9	26925814	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.686000	0.54685	2.074000	0.62210	0.450000	0.29827	AAA		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26902801	26902801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:26902801C>T	ENST00000231021.4	-	7	1209	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R346K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCATCCACTCTTAAAGTATA	0.338																																					p.R346K	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	5						.						72.0	72.0	72.0					5																	26902801		2203	4300	6503	26938558	SO:0001583	missense	1007	exon7			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1037G>A	5.37:g.26902801C>T	ENSP00000231021:p.Arg346Lys	Somatic		Capture	Illumina HiSeq	Phase_I	26938558	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	5.170	0.216860	0.09810	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.62	2.74	0.32292	Cadherin (5);Cadherin-like (1);	0.329436	0.33980	N	0.004374	T	0.21267	0.0512	N	0.04355	-0.22	0.28302	N	0.92309	B	0.02656	0.0	B	0.13407	0.009	T	0.16748	-1.0392	9	.	.	.	.	7.8054	0.29200	0.0:0.6575:0.0:0.3425	.	346	Q9ULB4	CADH9_HUMAN	K	346	ENSP00000231021:R346K	.	R	-	2	0	CDH9	26938558	0.408000	0.25360	1.000000	0.80357	0.977000	0.68977	-0.235000	0.09016	0.654000	0.30846	0.650000	0.86243	AGA		0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26906067	26906067	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:26906067C>T	ENST00000231021.4	-	5	984		c.e5+1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATTTCTTACTCTGGGGAAA	0.428																																					.	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Unknown(1)	large_intestine(1)	.	5						.						165.0	160.0	162.0					5																	26906067		2203	4300	6503	26941824	SO:0001630	splice_region_variant	1007	.			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.811+1G>A	5.37:g.26906067C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26941824	.	Q3B7I5	Splice_Site	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417896	0.83449	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH9	26941824	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	.		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Intron
CDH9	1007	broad.mit.edu	37	5	26906150	26906150	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:26906150G>T	ENST00000231021.4	-	5	901	c.729C>A	c.(727-729)ggC>ggA	p.G243G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G243G(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCCCATCTGGCCACCCATGT	0.453																																					p.G243G	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729A	5						.						233.0	211.0	218.0					5																	26906150		2203	4300	6503	26941907	SO:0001819	synonymous_variant	1007	exon5			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.729C>A	5.37:g.26906150G>T		Somatic		Capture	Illumina HiSeq	Phase_I	26941907	NM_016279	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.453	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
DROSHA	29102	broad.mit.edu	37	5	31401640	31401640	+	Missense_Mutation	SNP	G	G	A	rs561462275		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:31401640G>A	ENST00000511367.2	-	35	4268	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	DROSHA_ENST00000344624.3_Missense_Mutation_p.R1342W|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1305W|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1305W	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1342	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R1342W(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCGATGAACCGCTTCTGATGG	0.348																																					p.R1342W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4024T	5						.						147.0	129.0	134.0					5																	31401640		1837	4077	5914	31437397	SO:0001583	missense	29102	exon35			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.4024C>T	5.37:g.31401640G>A	ENSP00000425979:p.Arg1342Trp	Somatic		Capture	Illumina HiSeq	Phase_I	31437397	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133815	0.94517	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.53423	1.21;1.21;0.62;0.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64595	0.927;0.838	T	0.60383	-0.7274	10	0.87932	D	0	-18.0905	20.181	0.98201	0.0:0.0:1.0:0.0	.	1305;1342	E7EMP9;Q9NRR4	.;RNC_HUMAN	W	1342;1342;1305;1305;1267	ENSP00000425979:R1342W;ENSP00000339845:R1342W;ENSP00000409335:R1305W;ENSP00000424161:R1305W	ENSP00000265075:R1267W	R	-	1	2	DROSHA	31437397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.141000	0.94612	2.840000	0.97914	0.655000	0.94253	CGG		0.348	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31437400	31437400	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:31437400T>C	ENST00000511367.2	-	23	3132	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S	DROSHA_ENST00000344624.3_Missense_Mutation_p.N963S|DROSHA_ENST00000442743.1_Missense_Mutation_p.N926S|DROSHA_ENST00000513349.1_Missense_Mutation_p.N926S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	963	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.N963S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCATTGTGGTTAATCCTACA	0.388																																					p.N963S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2888G	5						.						48.0	45.0	46.0					5																	31437400		1829	4075	5904	31473157	SO:0001583	missense	29102	exon23			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2888A>G	5.37:g.31437400T>C	ENSP00000425979:p.Asn963Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31473157	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438020	0.25900	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.35	5.35	0.76521	Ribonuclease III (4);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.08118	0	0.80722	D	1	B;B	0.28880	0.226;0.086	B;B	0.24394	0.04;0.053	T	0.69176	-0.5214	10	0.25106	T	0.35	-28.4199	15.4481	0.75248	0.0:0.0:0.0:1.0	.	926;963	E7EMP9;Q9NRR4	.;RNC_HUMAN	S	963;963;926;926;888;919	ENSP00000425979:N963S;ENSP00000339845:N963S;ENSP00000409335:N926S;ENSP00000424161:N926S	ENSP00000265075:N888S	N	-	2	0	DROSHA	31473157	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.608000	0.74168	2.371000	0.80710	0.533000	0.62120	AAC		0.388	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31511162	31511162	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:31511162G>A	ENST00000511367.2	-	8	1656	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	DROSHA_ENST00000344624.3_Missense_Mutation_p.T471M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T434M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T434M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	471					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.T471M(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATCGAGCTTCGTCTTTGGAGG	0.478																																					p.T471M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1412T	5						.						132.0	127.0	129.0					5																	31511162		1994	4179	6173	31546919	SO:0001583	missense	29102	exon8			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1412C>T	5.37:g.31511162G>A	ENSP00000425979:p.Thr471Met	Somatic		Capture	Illumina HiSeq	Phase_I	31546919	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428188	0.83667	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.47869	1.42;1.42;0.83;0.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.77557	0.85;0.713;0.99	T	0.59059	-0.7525	10	0.46703	T	0.11	-19.1614	20.8598	0.99761	0.0:0.0:1.0:0.0	.	403;434;471	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	M	471;471;434;434;396;427	ENSP00000425979:T471M;ENSP00000339845:T471M;ENSP00000409335:T434M;ENSP00000424161:T434M	ENSP00000265075:T396M	T	-	2	0	DROSHA	31546919	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	ACG		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31515283	31515283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:31515283C>A	ENST00000511367.2	-	7	1346	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E368*|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E331*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E331*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	368					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E368*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CGGTCTTTTTCTTCCTCCCAA	0.438																																					p.E368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1102T	5						.						143.0	134.0	136.0					5																	31515283		1837	4086	5923	31551040	SO:0001587	stop_gained	29102	exon7			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1102G>T	5.37:g.31515283C>A	ENSP00000425979:p.Glu368*	Somatic		Capture	Illumina HiSeq	Phase_I	31551040	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.628029|4.628029	0.87560|0.87560	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.154380|.	0.56097|.	D|.	0.000025|.	.|T	.|0.76307	.|0.3969	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74948	.|-0.3490	.|3	0.48119|.	T|.	0.1|.	-22.6976|-22.6976	19.38|19.38	0.94529|0.94529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	368;368;331;331;293;324;135|129	.|.	ENSP00000265075:E293X|.	E|R	-|-	1|2	0|0	DROSHA|DROSHA	31551040|31551040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.458000|7.458000	0.80787|0.80787	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	32089981	32089981	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32089981C>A	ENST00000438447.1	+	20	6815	c.6427C>A	c.(6427-6429)Cat>Aat	p.H2143N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H2143N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2143	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.H2143N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATCCACAAGTCATCCATCCTC	0.552																																					p.H2143N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6427A	5						.						98.0	96.0	97.0					5																	32089981		2203	4300	6503	32125738	SO:0001583	missense	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6427C>A	5.37:g.32089981C>A	ENSP00000402033:p.His2143Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32125738	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691711	0.30052	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06218	3.33;3.33	5.04	-1.27	0.09347	.	1.169420	0.06219	N	0.686420	T	0.05640	0.0148	L	0.50333	1.59	0.09310	N	1	B	0.29432	0.244	B	0.26770	0.073	T	0.44967	-0.9293	10	0.12766	T	0.61	.	4.0992	0.10005	0.1607:0.3877:0.0:0.4516	.	2143	O15018	PDZD2_HUMAN	N	2143;1944;2143	ENSP00000402033:H2143N;ENSP00000282493:H2143N	ENSP00000282493:H2143N	H	+	1	0	PDZD2	32125738	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.563000	0.05943	-0.134000	0.11516	0.561000	0.74099	CAT		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	32093114	32093114	+	Missense_Mutation	SNP	C	C	T	rs372031921		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32093114C>T	ENST00000438447.1	+	21	8217	c.7829C>T	c.(7828-7830)gCg>gTg	p.A2610V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A2610V			O15018	PDZD2_HUMAN	PDZ domain containing 2	2610					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A2610V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATTCAGGAAGCGAAAGCACAA	0.507											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2610V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7829T	5						.	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	80.0	81.0	80.0		7829	4.0	1.0	5		80	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	2610/2840	32093114	2,13004	2203	4300	6503	32128871	SO:0001583	missense	23037	exon20			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7829C>T	5.37:g.32093114C>T	ENSP00000402033:p.Ala2610Val	Somatic	829	Capture	Illumina HiSeq	Phase_I	32128871	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690120	0.48097	4.54E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38722	1.12;1.12	5.8	4.0	0.46444	PDZ/DHR/GLGF (1);	0.127580	0.35936	N	0.002896	T	0.34716	0.0907	M	0.61703	1.905	0.32539	N	0.533936	B	0.29037	0.231	B	0.17098	0.017	T	0.41662	-0.9496	10	0.30078	T	0.28	.	8.0514	0.30581	0.0:0.7522:0.0:0.2478	.	2610	O15018	PDZD2_HUMAN	V	2610;2411;2610	ENSP00000402033:A2610V;ENSP00000282493:A2610V	ENSP00000282493:A2610V	A	+	2	0	PDZD2	32128871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.575000	0.36493	0.788000	0.33755	0.561000	0.74099	GCG		0.507	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
MTMR12	54545	broad.mit.edu	37	5	32268851	32268851	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32268851C>T	ENST00000382142.3	-	6	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	180						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.R180Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378																																					p.R180Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	5						.						128.0	120.0	123.0					5																	32268851		2203	4300	6503	32304608	SO:0001583	missense	54545	exon6			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.539G>A	5.37:g.32268851C>T	ENSP00000371577:p.Arg180Gln	Somatic		Capture	Illumina HiSeq	Phase_I	32304608	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412317	0.96072	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.81659	-1.52;-1.52;-1.52	5.61	5.61	0.85477	.	0.069179	0.64402	D	0.000018	D	0.88032	0.6328	L	0.57536	1.79	0.41300	D	0.987032	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.963;0.92	D	0.84977	0.0886	10	0.27082	T	0.32	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	180;180;180	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	180	ENSP00000280285:R180Q;ENSP00000371577:R180Q;ENSP00000264934:R180Q	ENSP00000264934:R180Q	R	-	2	0	MTMR12	32304608	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.062000	0.64326	2.653000	0.90120	0.655000	0.94253	CGA		0.378	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
NPR3	4883	broad.mit.edu	37	5	32724817	32724817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32724817T>A	ENST00000265074.8	+	2	1126	c.783T>A	c.(781-783)tgT>tgA	p.C261*	NPR3_ENST00000415685.2_Nonsense_Mutation_p.C45*|NPR3_ENST00000434067.2_Nonsense_Mutation_p.C45*|NPR3_ENST00000415167.2_Nonsense_Mutation_p.C261*	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	261					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.C261*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGATCATGTGTGCGAGCAGTG	0.537																																					p.C261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T783A	5						.						176.0	178.0	177.0					5																	32724817		2198	4290	6488	32760574	SO:0001587	stop_gained	4883	exon2				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.783T>A	5.37:g.32724817T>A	ENSP00000265074:p.Cys261*	Somatic		Capture	Illumina HiSeq	Phase_I	32760574	NM_000908	A2RRD1|B4DT84|E7EPG9	Nonsense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	T	42	9.299149	0.99128	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	.	.	.	5.37	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3205	10.5483	0.45072	0.0:0.0833:0.0:0.9167	.	.	.	.	X	38;45;45;261;261	.	ENSP00000265074:C261X	C	+	3	2	NPR3	32760574	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.561000	0.45905	0.731000	0.32448	0.533000	0.62120	TGT		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
NPR3	4883	broad.mit.edu	37	5	32786366	32786366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32786366G>T	ENST00000265074.8	+	8	1884	c.1541G>T	c.(1540-1542)aGg>aTg	p.R514M	NPR3_ENST00000415685.2_Missense_Mutation_p.R297M|NPR3_ENST00000434067.2_Missense_Mutation_p.R298M|NPR3_ENST00000415167.2_Missense_Mutation_p.R513M|AC026703.1_ENST00000326958.1_5'Flank	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	514					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.R514M(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACCATTGAGAGGCGAACCCAG	0.418																																					p.R513M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1538T	5						.						69.0	65.0	66.0					5																	32786366		1838	4085	5923	32822123	SO:0001583	missense	4883	exon8				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1541G>T	5.37:g.32786366G>T	ENSP00000265074:p.Arg514Met	Somatic		Capture	Illumina HiSeq	Phase_I	32822123	NM_000908	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522105	0.85600	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	6.17	6.17	0.99709	.	0.094270	0.64402	D	0.000001	T	0.59783	0.2219	L	0.27053	0.805	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.55127	-0.8189	10	0.40728	T	0.16	-26.1788	20.8794	0.99867	0.0:0.0:1.0:0.0	.	297;514;513	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	M	298;297;514;513	ENSP00000388408:R298M;ENSP00000402490:R297M;ENSP00000265074:R514M;ENSP00000398028:R513M	ENSP00000265074:R514M	R	+	2	0	NPR3	32822123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.443000	0.90320	2.941000	0.99782	0.655000	0.94253	AGG		0.418	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
NPR3	4883	broad.mit.edu	37	5	32789873	32789873	+	3'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:32789873G>T	ENST00000265074.8	+	0	5391				AC026703.1_ENST00000326958.1_Nonstop_Mutation_p.*122Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.*122Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CCATTGCATAGATCTCATGCA	0.423																																					p.X122Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G366T	5						.						119.0	93.0	102.0					5																	32789873		2203	4300	6503	32825630	SO:0001624	3_prime_UTR_variant	79614	exon1				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3422G>T	5.37:g.32789873G>T		Somatic		Capture	Illumina HiSeq	Phase_I	32825630	NM_024563	A2RRD1|B4DT84|E7EPG9	Nonstop_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	4.866	0.161031	0.09287	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.92	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2392	0.20780	0.0:0.2103:0.4481:0.3417	.	.	.	.	Y	122	.	.	X	+	3	2	AC026703.1	32825630	0.735000	0.28153	0.008000	0.14137	0.161000	0.22273	1.961000	0.40432	0.754000	0.32968	0.591000	0.81541	TAG		0.423	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
TARS	6897	broad.mit.edu	37	5	33455041	33455041	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:33455041A>C	ENST00000265112.3	+	5	764				TARS_ENST00000541634.1_Intron|TARS_ENST00000414361.2_Intron|TARS_ENST00000455217.2_Intron|TARS_ENST00000502553.1_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.?(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTTTCTTTAAATTTTCAGGT	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						81.0	82.0	82.0					5																	33455041		2203	4300	6503	33490798	SO:0001627	intron_variant	6897	.			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.454-9A>C	5.37:g.33455041A>C		Somatic		Capture	Illumina HiSeq	Phase_I	33490798	.	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Intron	SNP	ENST00000265112.3	37	CCDS3899.1																																																																																				0.393	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
ADAMTS12	81792	broad.mit.edu	37	5	33527316	33527316	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:33527316G>A	ENST00000504830.1	-	24	5097	c.4762C>T	c.(4762-4764)Ctc>Ttc	p.L1588F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L1503F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1588					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1588F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACTTTTGGAGCAACCGTTGC	0.532										HNSCC(64;0.19)																											p.L1588F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4762T	5						.						266.0	242.0	250.0					5																	33527316		2203	4300	6503	33563073	SO:0001583	missense	81792	exon24			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4762C>T	5.37:g.33527316G>A	ENSP00000422554:p.Leu1588Phe	Somatic		Capture	Illumina HiSeq	Phase_I	33563073	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495994	0.26774	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62105	0.09;0.05	5.57	3.47	0.39725	.	0.960117	0.08581	N	0.924463	T	0.48909	0.1526	L	0.31294	0.92	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.002	T	0.32455	-0.9906	10	0.24483	T	0.36	.	8.6789	0.34196	0.201:0.0:0.799:0.0	.	1503;1588	P58397-3;P58397	.;ATS12_HUMAN	F	1588;1503	ENSP00000422554:L1588F;ENSP00000344847:L1503F	ENSP00000344847:L1503F	L	-	1	0	ADAMTS12	33563073	0.894000	0.30519	0.002000	0.10522	0.002000	0.02628	1.192000	0.32150	1.370000	0.46153	0.655000	0.94253	CTC		0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33527483	33527483	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:33527483G>T	ENST00000504830.1	-	24	4942				ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGGAAGGAGAAAAAGAATA	0.393										HNSCC(64;0.19)																											.												.	.	0			.	5						.						63.0	62.0	62.0					5																	33527483		2203	4300	6503	33563240	SO:0001627	intron_variant	81792	.			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4607-12C>A	5.37:g.33527483G>T		Somatic		Capture	Illumina HiSeq	Phase_I	33563240	.	A2RRN9|A5D6V6|Q6UWL3	Intron	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.393	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33535029	33535029	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:33535029T>G	ENST00000504830.1	-	23	4850	c.4515A>C	c.(4513-4515)aaA>aaC	p.K1505N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1420N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1505	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1505N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTCTTCAGTTTTATTGCCCT	0.478										HNSCC(64;0.19)																											p.K1505N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4515C	5						.						136.0	128.0	131.0					5																	33535029		2203	4300	6503	33570786	SO:0001583	missense	81792	exon23			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4515A>C	5.37:g.33535029T>G	ENSP00000422554:p.Lys1505Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33570786	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469734	0.12461	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53423	0.62;0.62	5.13	5.13	0.70059	.	0.579097	0.19611	N	0.110124	T	0.36220	0.0959	L	0.28740	0.885	0.58432	D	0.999999	B;B	0.31413	0.275;0.322	B;B	0.34824	0.12;0.19	T	0.12837	-1.0532	10	0.17832	T	0.49	.	11.6286	0.51160	0.0:0.0:0.0:1.0	.	1420;1505	P58397-3;P58397	.;ATS12_HUMAN	N	1505;1420	ENSP00000422554:K1505N;ENSP00000344847:K1420N	ENSP00000344847:K1420N	K	-	3	2	ADAMTS12	33570786	0.552000	0.26505	0.059000	0.19551	0.314000	0.28054	1.284000	0.33249	2.064000	0.61679	0.460000	0.39030	AAA		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33549455	33549455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:33549455G>A	ENST00000504830.1	-	21	4494	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1302C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1387	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1387C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAATCTCGCGTATCTTGAAG	0.557										HNSCC(64;0.19)																											p.R1387C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4159T	5						.						85.0	95.0	92.0					5																	33549455		2203	4300	6503	33585212	SO:0001583	missense	81792	exon21			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4159C>T	5.37:g.33549455G>A	ENSP00000422554:p.Arg1387Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33585212	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097921	0.76870	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.78924	-1.22;-1.22	5.16	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.92765	0.6227	10	0.87932	D	0	.	12.2147	0.54400	0.0:0.0:0.8289:0.1711	.	1302;1387	P58397-3;P58397	.;ATS12_HUMAN	C	1387;1302	ENSP00000422554:R1387C;ENSP00000344847:R1302C	ENSP00000344847:R1302C	R	-	1	0	ADAMTS12	33585212	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.136000	0.58004	1.140000	0.42260	0.650000	0.86243	CGC		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
C1QTNF3	114899	broad.mit.edu	37	5	34020768	34020768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34020768G>A	ENST00000231338.7	-	6	748	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RP11-1084J3.4_ENST00000382079.3_Nonsense_Mutation_p.R205*|C1QTNF3_ENST00000513065.1_5'Flank|C1QTNF3_ENST00000382065.3_Nonsense_Mutation_p.R294*	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R294*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TTGCCCATTCGCAGCCAAACC	0.463																																					p.R294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C880T	5						.						179.0	161.0	167.0					5																	34020768		2203	4300	6503	34056525	SO:0001587	stop_gained	114899	exon6			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.661C>T	5.37:g.34020768G>A	ENSP00000231338:p.Arg221*	Somatic		Capture	Illumina HiSeq	Phase_I	34056525	NM_181435	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Nonsense_Mutation	SNP	ENST00000231338.7	37	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	G	41	8.942952	0.99012	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	.	.	.	5.84	-2.14	0.07123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	19.5717	0.95423	0.0:0.0:0.7058:0.2942	.	.	.	.	X	174;294;221	.	ENSP00000231338:R221X	R	-	1	2	C1QTNF3	34056525	0.989000	0.36119	0.859000	0.33776	0.984000	0.73092	1.283000	0.33237	-0.146000	0.11274	-0.274000	0.10170	CGA		0.463	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945	
RAI14	26064	broad.mit.edu	37	5	34811110	34811110	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34811110C>A	ENST00000265109.3	+	8	737				RAI14_ENST00000397449.1_Intron|RAI14_ENST00000503673.1_Intron|RAI14_ENST00000515799.1_Intron|RAI14_ENST00000512629.1_Intron|RAI14_ENST00000506376.1_Intron|RAI14_ENST00000507276.1_Intron|RAI14_ENST00000428746.2_Intron	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGAATTTGTCTCCTAGGATG	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						259.0	255.0	257.0					5																	34811110		2203	4300	6503	34846867	SO:0001627	intron_variant	26064	.			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.451-7C>A	5.37:g.34811110C>A		Somatic		Capture	Illumina HiSeq	Phase_I	34846867	.	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Intron	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.433	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34811961	34811961	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34811961C>T	ENST00000265109.3	+	9	934	c.647C>T	c.(646-648)tCt>tTt	p.S216F	RAI14_ENST00000397449.1_Missense_Mutation_p.S209F|RAI14_ENST00000503673.1_Missense_Mutation_p.S216F|RAI14_ENST00000515799.1_Missense_Mutation_p.S219F|RAI14_ENST00000512629.1_Missense_Mutation_p.S216F|RAI14_ENST00000506376.1_Missense_Mutation_p.S208F|RAI14_ENST00000428746.2_Missense_Mutation_p.S216F	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	216						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S216F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTTGTAGATTCTCTTGGATAC	0.398																																					p.S216F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	5						.						88.0	90.0	89.0					5																	34811961		2203	4300	6503	34847718	SO:0001583	missense	26064	exon10			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.647C>T	5.37:g.34811961C>T	ENSP00000265109:p.Ser216Phe	Somatic		Capture	Illumina HiSeq	Phase_I	34847718	NM_001145521	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850230	0.51270	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.64170	0.2574	L	0.49640	1.575	0.42590	D	0.993245	D;D;D;D	0.54397	0.958;0.966;0.958;0.966	P;P;P;P	0.49637	0.483;0.617;0.483;0.617	T	0.66701	-0.5857	9	0.54805	T	0.06	-9.1383	13.3311	0.60488	0.0:0.918:0.0:0.082	.	208;216;219;216	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	F	216;216;216;216;219;208;209	ENSP00000265109:S216F;ENSP00000422377:S216F;ENSP00000388725:S216F;ENSP00000422942:S216F;ENSP00000427123:S219F;ENSP00000423854:S208F;ENSP00000380591:S209F	ENSP00000265109:S216F	S	+	2	0	RAI14	34847718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.686000	0.91538	0.650000	0.86243	TCT		0.398	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34812037	34812037	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34812037C>A	ENST00000265109.3	+	9	1010	c.723C>A	c.(721-723)atC>atA	p.I241I	RAI14_ENST00000397449.1_Silent_p.I234I|RAI14_ENST00000503673.1_Silent_p.I241I|RAI14_ENST00000515799.1_Silent_p.I244I|RAI14_ENST00000512629.1_Silent_p.I241I|RAI14_ENST00000506376.1_Silent_p.I233I|RAI14_ENST00000428746.2_Silent_p.I241I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	241						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I241I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TATCAAAAATCTCTCAGGATG	0.348																																					p.I241I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723A	5						.						64.0	69.0	68.0					5																	34812037		2200	4300	6500	34847794	SO:0001819	synonymous_variant	26064	exon10			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.723C>A	5.37:g.34812037C>A		Somatic		Capture	Illumina HiSeq	Phase_I	34847794	NM_001145521	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.348	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
TTC23L	153657	broad.mit.edu	37	5	34850317	34850317	+	Nonsense_Mutation	SNP	C	C	T	rs369077244		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34850317C>T	ENST00000505624.1	+	4	386	c.283C>T	c.(283-285)Cga>Tga	p.R95*	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	95								p.R95*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GGAGCTGATTCGATGTGTCAT	0.438																																					p.R95X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C283T	5						.	C	stop/ARG	0,3848		0,0,1924	211.0	211.0	211.0		283	4.0	1.0	5		211	1,8265		0,1,4132	no	stop-gained	TTC23L	NM_144725.3		0,1,6056	TT,TC,CC		0.0121,0.0,0.0083		95/362	34850317	1,12113	1924	4133	6057	34886074	SO:0001587	stop_gained	153657	exon4				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.283C>T	5.37:g.34850317C>T	ENSP00000422188:p.Arg95*	Somatic		Capture	Illumina HiSeq	Phase_I	34886074	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Nonsense_Mutation	SNP	ENST00000505624.1	37	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115464	0.94339	0.0	1.21E-4	ENSG00000205838	ENST00000505624;ENST00000535797	.	.	.	4.84	3.97	0.46021	.	0.073944	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6451	9.0586	0.36421	0.0:0.8997:0.0:0.1003	.	.	.	.	X	95	.	ENSP00000425242:R95X	R	+	1	2	TTC23L	34886074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.258000	0.43249	1.241000	0.43820	0.655000	0.94253	CGA		0.438	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725	
BRIX1	55299	broad.mit.edu	37	5	34925005	34925005	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:34925005T>C	ENST00000336767.5	+	9	1080	c.717T>C	c.(715-717)aaT>aaC	p.N239N	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	239	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N239N(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTGTCTTAAATCTCATAAAGA	0.358																																					p.N239N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T717C	5						.						84.0	85.0	84.0					5																	34925005		2203	4300	6503	34960762	SO:0001819	synonymous_variant	55299	exon9				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.717T>C	5.37:g.34925005T>C		Somatic		Capture	Illumina HiSeq	Phase_I	34960762	NM_018321	A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	CCDS34143.1																																																																																				0.358	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321	
AGXT2	64902	broad.mit.edu	37	5	35003956	35003956	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35003956C>T	ENST00000231420.6	-	13	1549	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	450					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.R450Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGGAAGAGGCCGACAGCTTAT	0.393											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R450Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1349A	5						.						105.0	101.0	102.0					5																	35003956		2203	4300	6503	35039713	SO:0001583	missense	64902	exon13			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1349G>A	5.37:g.35003956C>T	ENSP00000231420:p.Arg450Gln	Somatic	852	Capture	Illumina HiSeq	Phase_I	35039713	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	8.118	0.780237	0.16120	.	.	ENSG00000113492	ENST00000231420	T	0.19250	2.16	5.58	4.35	0.52113	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.574907	0.19829	N	0.105121	T	0.05960	0.0155	N	0.00483	-1.445	0.24237	N	0.995379	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33033	-0.9884	10	0.23302	T	0.38	-7.8014	9.7672	0.40567	0.0:0.0796:0.0:0.9204	.	375;450	E9PDL7;Q9BYV1	.;AGT2_HUMAN	Q	450	ENSP00000231420:R450Q	ENSP00000231420:R450Q	R	-	2	0	AGXT2	35039713	0.005000	0.15991	0.748000	0.31131	0.001000	0.01503	0.840000	0.27600	0.933000	0.37291	-0.290000	0.09829	CGG		0.393	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
AGXT2	64902	broad.mit.edu	37	5	35033635	35033635	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35033635G>T	ENST00000231420.6	-	6	805	c.605C>A	c.(604-606)cCt>cAt	p.P202H	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	202					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.P202H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AAGTGTGTAAGGACTGCATCC	0.488																																					p.P202H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605A	5						.						96.0	81.0	86.0					5																	35033635		2203	4300	6503	35069392	SO:0001583	missense	64902	exon6			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.605C>A	5.37:g.35033635G>T	ENSP00000231420:p.Pro202His	Somatic		Capture	Illumina HiSeq	Phase_I	35069392	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573303	0.86542	.	.	ENSG00000113492	ENST00000231420	T	0.18960	2.18	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097394	0.64402	D	0.000001	T	0.37293	0.0998	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.73708	0.964;0.981;0.946	T	0.02610	-1.1134	10	0.45353	T	0.12	-4.1975	20.2245	0.98337	0.0:0.0:1.0:0.0	.	110;202;202	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	H	202	ENSP00000231420:P202H	ENSP00000231420:P202H	P	-	2	0	AGXT2	35069392	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.865000	0.87049	2.861000	0.98227	0.650000	0.86243	CCT		0.488	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
SPEF2	79925	broad.mit.edu	37	5	35667346	35667346	+	Missense_Mutation	SNP	G	G	A	rs34852821	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35667346G>A	ENST00000356031.3	+	9	1494	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	SPEF2_ENST00000440995.2_Missense_Mutation_p.R447Q|SPEF2_ENST00000509059.1_Missense_Mutation_p.R447Q|SPEF2_ENST00000282469.6_Missense_Mutation_p.R447Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	447			R -> Q (in dbSNP:rs34852821).		axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R447Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAGACTATCGAATGTTGACA	0.333													G|||	26	0.00519169	0.0189	0.0014	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0				p.R447Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1340A	5						.	G	GLN/ARG,GLN/ARG	106,4300	80.4+/-118.8	0,106,2097	72.0	69.0	70.0		1340,1340	5.7	1.0	5	dbSNP_126	70	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense	SPEF2	NM_024867.3,NM_144722.3	43,43	0,108,6394	AA,AG,GG		0.0233,2.4058,0.8305	probably-damaging,probably-damaging	447/1823,447/515	35667346	108,12896	2203	4299	6502	35703103	SO:0001583	missense	79925	exon9			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1340G>A	5.37:g.35667346G>A	ENSP00000348314:p.Arg447Gln	Somatic		Capture	Illumina HiSeq	Phase_I	35703103	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	29.2	4.985725	0.93044	0.024058	2.33E-4	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.65	5.65	0.86999	.	0.066930	0.64402	D	0.000011	T	0.30792	0.0776	M	0.82517	2.595	0.80722	D	1	D;D;P	0.89917	0.996;1.0;0.912	P;D;P	0.69307	0.773;0.963;0.455	T	0.30119	-0.9989	10	0.54805	T	0.06	.	19.3298	0.94281	0.0:0.0:1.0:0.0	rs34852821;rs56836481	447;447;447	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	Q	447	ENSP00000282469:R447Q;ENSP00000348314:R447Q;ENSP00000421593:R447Q;ENSP00000412125:R447Q	ENSP00000282469:R447Q	R	+	2	0	SPEF2	35703103	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	5.405000	0.66351	2.675000	0.91044	0.555000	0.69702	CGA		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
SPEF2	79925	broad.mit.edu	37	5	35691347	35691347	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35691347C>T	ENST00000356031.3	+	11	1887	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F	SPEF2_ENST00000440995.2_Missense_Mutation_p.S578F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.S578F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	578					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S578F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTAAGGTCTCTACAAAAA	0.378																																					p.S578F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1733T	5						.						85.0	87.0	86.0					5																	35691347		1864	4102	5966	35727104	SO:0001583	missense	79925	exon11			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1733C>T	5.37:g.35691347C>T	ENSP00000348314:p.Ser578Phe	Somatic		Capture	Illumina HiSeq	Phase_I	35727104	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	5.277	0.236505	0.10023	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.75	0.379	0.16213	.	0.892392	0.09868	N	0.745330	T	0.09642	0.0237	N	0.01352	-0.895	0.53005	D	0.999962	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13415	-1.0510	10	0.45353	T	0.12	.	3.411	0.07359	0.1847:0.3452:0.0:0.4701	.	578;578;578	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	F	578;578;578;89	ENSP00000348314:S578F;ENSP00000421593:S578F;ENSP00000412125:S578F;ENSP00000421744:S89F	ENSP00000348314:S578F	S	+	2	0	SPEF2	35727104	0.048000	0.20356	0.930000	0.37139	0.986000	0.74619	-0.259000	0.08721	0.371000	0.24564	0.585000	0.79938	TCT		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
CAPSL	133690	broad.mit.edu	37	5	35910467	35910467	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35910467C>A	ENST00000397367.2	-	3	442		c.e3+1		CAPSL_ENST00000514524.1_Splice_Site|CAPSL_ENST00000397366.1_Splice_Site	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like							cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GGGCCACTTACTCTTAATGTG	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						115.0	109.0	111.0					5																	35910467		2203	4300	6503	35946224	SO:0001630	splice_region_variant	133690	.			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.315+1G>T	5.37:g.35910467C>A		Somatic		Capture	Illumina HiSeq	Phase_I	35946224	.		Splice_Site	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466651	0.84425	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9855	0.92767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPSL	35946224	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.149000	0.77396	2.491000	0.84063	0.462000	0.41574	.		0.393	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	Intron
UGT3A1	133688	broad.mit.edu	37	5	35991279	35991279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:35991279C>T	ENST00000274278.3	-	1	421	c.64G>A	c.(64-66)Gct>Act	p.A22T	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A22T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A22T|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	22						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.A22T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTGGCAGCCTCTGAGAGC	0.602																																					p.A22T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64A	5						.						120.0	118.0	119.0					5																	35991279		2203	4300	6503	36027036	SO:0001583	missense	133688	exon1				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.64G>A	5.37:g.35991279C>T	ENSP00000274278:p.Ala22Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36027036	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342804	0.82022	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.70516	-0.01;0.08;-0.49	2.13	1.18	0.20946	.	0.124537	0.32624	U	0.005853	T	0.78742	0.4331	M	0.76574	2.34	0.80722	D	1	D;P;D	0.69078	0.997;0.893;0.969	D;P;P	0.83275	0.996;0.587;0.663	T	0.74765	-0.3554	10	0.48119	T	0.1	.	5.7346	0.18059	0.3167:0.6833:0.0:0.0	.	22;22;22	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	T	22	ENSP00000274278:A22T;ENSP00000427079:A22T;ENSP00000426100:A22T	ENSP00000274278:A22T	A	-	1	0	UGT3A1	36027036	0.002000	0.14202	0.933000	0.37362	0.943000	0.58893	0.667000	0.25112	0.403000	0.25479	0.313000	0.20887	GCT		0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
UGT3A2	167127	broad.mit.edu	37	5	36037940	36037940	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:36037940C>A	ENST00000282507.3	-	6	1355	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E384D|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E116D	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	418					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E418D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCCAATGTCTCTGCCTTGA	0.448																																					p.E384D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1152T	5						.						176.0	163.0	167.0					5																	36037940		2203	4300	6503	36073697	SO:0001583	missense	167127	exon5				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1254G>T	5.37:g.36037940C>A	ENSP00000282507:p.Glu418Asp	Somatic		Capture	Illumina HiSeq	Phase_I	36073697	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	7.213	0.595763	0.13875	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.64438	-0.1;-0.1;3.13	3.18	1.32	0.21799	.	0.000000	0.64402	U	0.000004	T	0.48132	0.1483	L	0.41415	1.275	0.33467	D	0.585652	B;B	0.23249	0.082;0.053	B;B	0.30495	0.116;0.058	T	0.47129	-0.9141	10	0.22109	T	0.4	.	6.7578	0.23524	0.0:0.5528:0.3413:0.1058	.	384;418	E9PFK7;Q3SY77	.;UD3A2_HUMAN	D	418;384;116	ENSP00000282507:E418D;ENSP00000427404:E384D;ENSP00000445367:E116D	ENSP00000282507:E418D	E	-	3	2	UGT3A2	36073697	0.011000	0.17503	0.841000	0.33234	0.591000	0.36615	-0.556000	0.05992	0.335000	0.23614	0.563000	0.77884	GAG		0.448	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
LMBRD2	92255	broad.mit.edu	37	5	36115183	36115183	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:36115183G>T	ENST00000296603.4	-	12	1938	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	492						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F492L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAAACCCAAGAAATTAAGAC	0.323																																					p.F492L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1476A	5						.						78.0	77.0	77.0					5																	36115183		2203	4300	6503	36150940	SO:0001583	missense	92255	exon12				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1476C>A	5.37:g.36115183G>T	ENSP00000296603:p.Phe492Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36150940	NM_001007527	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378303	0.82682	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.32272	1.46	5.46	4.4	0.53042	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.61013	-0.7148	10	0.49607	T	0.09	-13.1256	12.9014	0.58126	0.1252:0.0:0.8748:0.0	.	492	Q68DH5	LMBD2_HUMAN	L	492;386	ENSP00000296603:F492L	ENSP00000296603:F492L	F	-	3	2	LMBRD2	36150940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.837000	0.39201	2.565000	0.86533	0.650000	0.86243	TTC		0.323	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	
NIPBL	25836	broad.mit.edu	37	5	36985782	36985782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:36985782C>T	ENST00000282516.8	+	10	2999	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R834*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	834					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.R834*(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAGCGACATCGAGGGGATCA	0.408																																					p.R834X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2500T	5	GRCh37	CM062926	NIPBL	M		.						67.0	65.0	66.0					5																	36985782		2203	4300	6503	37021539	SO:0001587	stop_gained	25836	exon10			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2500C>T	5.37:g.36985782C>T	ENSP00000282516:p.Arg834*	Somatic		Capture	Illumina HiSeq	Phase_I	37021539	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	42	9.361687	0.99148	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.99	4.1	0.47936	.	0.062210	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-7.278	12.9252	0.58257	0.5024:0.4976:0.0:0.0	.	.	.	.	X	834	.	ENSP00000282516:R834X	R	+	1	2	NIPBL	37021539	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	3.501000	0.53325	1.515000	0.48885	0.655000	0.94253	CGA		0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NIPBL	25836	broad.mit.edu	37	5	37057339	37057339	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:37057339C>T	ENST00000282516.8	+	43	7814	c.7315C>T	c.(7315-7317)Cca>Tca	p.P2439S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2439S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2439					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.P2439S(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCCTGTTTTCCATACCAGAC	0.378																																					p.P2439S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7315T	5						.						100.0	92.0	95.0					5																	37057339		2203	4300	6503	37093096	SO:0001583	missense	25836	exon43			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7315C>T	5.37:g.37057339C>T	ENSP00000282516:p.Pro2439Ser	Somatic		Capture	Illumina HiSeq	Phase_I	37093096	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029962	0.93575	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96136	-3.92;-3.92	5.82	5.82	0.92795	.	0.053427	0.85682	D	0.000000	D	0.98137	0.9385	M	0.88105	2.93	0.80722	D	1	D;D;D	0.65815	0.995;0.977;0.994	D;D;D	0.73380	0.98;0.966;0.966	D	0.98136	1.0433	10	0.56958	D	0.05	-11.3342	20.1178	0.97943	0.0:1.0:0.0:0.0	.	2439;2439;2439	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	S	2439	ENSP00000282516:P2439S;ENSP00000406266:P2439S	ENSP00000282516:P2439S	P	+	1	0	NIPBL	37093096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.759000	0.94783	0.557000	0.71058	CCA		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37107766	37107766	+	Missense_Mutation	SNP	C	C	T	rs372215544		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:37107766C>T	ENST00000508244.1	-	51	9625	c.9532G>A	c.(9532-9534)Gaa>Aaa	p.E3178K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E3178K|C5orf42_ENST00000274258.7_Missense_Mutation_p.E2076K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3178						integral component of membrane (GO:0016021)		p.E2076K(1)|p.E3178K(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCATGTCTTCGATGGCATTC	0.587																																					p.E3178K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9532A	5						.	C	LYS/GLU	0,4406		0,0,2203	49.0	38.0	42.0		9532	5.6	0.5	5		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5orf42	NM_023073.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3178/3198	37107766	1,13005	2203	4300	6503	37143523	SO:0001583	missense	65250	exon52				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9532G>A	5.37:g.37107766C>T	ENSP00000421690:p.Glu3178Lys	Somatic		Capture	Illumina HiSeq	Phase_I	37143523	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	36	5.641556	0.96704	0.0	1.16E-4	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.58	5.58	0.84498	.	0.498628	0.20654	N	0.088146	T	0.66076	0.2753	M	0.68593	2.085	0.33566	D	0.598004	D;D	0.71674	0.986;0.998	P;P	0.56751	0.636;0.805	T	0.75889	-0.3158	10	0.87932	D	0	.	14.9478	0.71047	0.0:1.0:0.0:0.0	.	3178;2076	E9PH94;Q9H799	.;CE042_HUMAN	K	3178;3178;2076;2244	ENSP00000421690:E3178K;ENSP00000389014:E3178K;ENSP00000274258:E2076K;ENSP00000424223:E2244K	ENSP00000274258:E2076K	E	-	1	0	C5orf42	37143523	0.996000	0.38824	0.548000	0.28192	0.988000	0.76386	4.410000	0.59774	2.906000	0.99361	0.655000	0.94253	GAA		0.587	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37158409	37158409	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:37158409C>A	ENST00000508244.1	-	38	7822	c.7729G>T	c.(7729-7731)Gat>Tat	p.D2577Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.D2577Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1457Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2577						integral component of membrane (GO:0016021)		p.D1457Y(1)|p.D2577Y(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGATAGACATCTGGGACCAAG	0.378																																					p.D2577Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7729T	5						.						102.0	97.0	99.0					5																	37158409		2203	4300	6503	37194166	SO:0001583	missense	65250	exon39				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7729G>T	5.37:g.37158409C>A	ENSP00000421690:p.Asp2577Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37194166	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758749	0.49468	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.35789	1.29;1.29;1.47;1.49	5.58	5.58	0.84498	.	0.000000	0.49916	D	0.000130	T	0.56232	0.1971	L	0.50333	1.59	0.47276	D	0.999372	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.56914	-0.7900	10	0.87932	D	0	.	17.7442	0.88415	0.0:1.0:0.0:0.0	.	2577;1457	E9PH94;Q9H799	.;CE042_HUMAN	Y	2577;2577;1457;1625;1457	ENSP00000421690:D2577Y;ENSP00000389014:D2577Y;ENSP00000274258:D1457Y;ENSP00000424223:D1625Y	ENSP00000274258:D1457Y	D	-	1	0	C5orf42	37194166	1.000000	0.71417	0.882000	0.34594	0.106000	0.19336	3.314000	0.51943	2.618000	0.88619	0.655000	0.94253	GAT		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
GDNF	2668	broad.mit.edu	37	5	37815749	37815749	+	3'UTR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:37815749G>A	ENST00000326524.2	-	0	839				GDNF_ENST00000344622.4_3'UTR	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor						adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CTCTGGAGCCGGAGTCAGATA	0.458																																					.												.	.	0			.	5						.						98.0	88.0	91.0					5																	37815749		2203	4300	6503	37851506	SO:0001624	3_prime_UTR_variant	0	.				CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.*4C>T	5.37:g.37815749G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37851506	.	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	IGR	SNP	ENST00000326524.2	37	CCDS3922.1																																																																																				0.458	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514	
EGFLAM	133584	broad.mit.edu	37	5	38406322	38406322	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38406322T>A	ENST00000354891.3	+	7	1153	c.807T>A	c.(805-807)gaT>gaA	p.D269E	EGFLAM-AS2_ENST00000514377.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D35E|EGFLAM-AS2_ENST00000512603.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D269E|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	269					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.D269E(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACGACTTAGATTTGGATATTT	0.468																																					p.D269E	Colon(62;485 1295 3347 17454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T807A	5						.						107.0	105.0	106.0					5																	38406322		2203	4300	6503	38442079	SO:0001583	missense	133584	exon7			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.807T>A	5.37:g.38406322T>A	ENSP00000346964:p.Asp269Glu	Somatic		Capture	Illumina HiSeq	Phase_I	38442079	NM_152403	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689534	0.68271	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;D	0.83914	0.64;0.47;-1.78	5.39	-1.26	0.09376	.	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	M	0.71581	2.175	0.80722	D	1	P;P;D	0.54397	0.801;0.943;0.966	B;P;P	0.51170	0.355;0.459;0.661	T	0.81699	-0.0814	10	0.66056	D	0.02	-4.5415	9.9653	0.41721	0.0:0.5575:0.0:0.4425	.	35;269;269	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	269;269;35;35	ENSP00000346964:D269E;ENSP00000313084:D269E;ENSP00000337607:D35E	ENSP00000313084:D269E	D	+	3	2	EGFLAM	38442079	0.973000	0.33851	0.977000	0.42913	0.995000	0.86356	-0.004000	0.12878	-0.206000	0.10203	0.379000	0.24179	GAT		0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
EGFLAM	133584	broad.mit.edu	37	5	38463124	38463124	+	Intron	SNP	G	G	T	rs375920608		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38463124G>T	ENST00000354891.3	+	22	3245				EGFLAM_ENST00000514476.1_Intron|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000397210.3_Intron|EGFLAM_ENST00000506135.1_Intron|EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains						extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTAAGTGACCGACCCTCGACC	0.468																																					.	Colon(62;485 1295 3347 17454)											.	.	0			.	5						.						101.0	86.0	91.0					5																	38463124		2203	4300	6503	38498881	SO:0001627	intron_variant	133584	.			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2899+11G>T	5.37:g.38463124G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38498881	.	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Intron	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																				0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
LIFR	3977	broad.mit.edu	37	5	38481917	38481917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38481917G>T	ENST00000263409.4	-	20	3236	c.3074C>A	c.(3073-3075)aCt>aAt	p.T1025N	LIFR_ENST00000453190.2_Missense_Mutation_p.T1025N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1025					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.T1025N(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GTAACCCGCAGTTTTATCTAA	0.448			T	PLAG1	salivary adenoma																																p.T1025N	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3074A	5						.						119.0	113.0	115.0					5																	38481917		2203	4300	6503	38517674	SO:0001583	missense	3977	exon20			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3074C>A	5.37:g.38481917G>T	ENSP00000263409:p.Thr1025Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38517674	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.961050	0.34565	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56444	0.46;0.46	5.94	5.06	0.68205	.	0.846105	0.11063	N	0.603760	T	0.46132	0.1377	L	0.41236	1.265	0.28904	N	0.893117	P	0.43169	0.8	B	0.37943	0.261	T	0.47100	-0.9143	10	0.49607	T	0.09	-4.8376	14.5548	0.68094	0.0696:0.0:0.9304:0.0	.	1025	P42702	LIFR_HUMAN	N	1025	ENSP00000263409:T1025N;ENSP00000398368:T1025N	ENSP00000263409:T1025N	T	-	2	0	LIFR	38517674	0.954000	0.32549	0.015000	0.15790	0.288000	0.27193	2.995000	0.49441	2.812000	0.96745	0.557000	0.71058	ACT		0.448	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	broad.mit.edu	37	5	38510602	38510602	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38510602C>T	ENST00000263409.4	-	7	1117	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E319K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	319					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E319K(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTATCTTCGGTTGTAAAA	0.343			T	PLAG1	salivary adenoma																																p.E319K	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G955A	5						.						75.0	73.0	73.0					5																	38510602		2203	4300	6503	38546359	SO:0001583	missense	3977	exon7			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.955G>A	5.37:g.38510602C>T	ENSP00000263409:p.Glu319Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38546359	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	2.080	-0.410953	0.04799	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.63913	-0.07;-0.07	5.61	0.974	0.19715	.	1.308700	0.04625	N	0.402531	T	0.54240	0.1846	L	0.60455	1.87	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.19712	-1.0297	10	0.15952	T	0.53	-0.358	5.0558	0.14531	0.0:0.5255:0.1571:0.3173	.	319	P42702	LIFR_HUMAN	K	319	ENSP00000263409:E319K;ENSP00000398368:E319K	ENSP00000263409:E319K	E	-	1	0	LIFR	38546359	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.217000	0.17603	0.246000	0.21394	-0.181000	0.13052	GAA		0.343	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	broad.mit.edu	37	5	38527354	38527354	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38527354A>G	ENST00000263409.4	-	4	462	c.300T>C	c.(298-300)atT>atC	p.I100I	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.I100I	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	100	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.I100I(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAGAGCTGGAATTTTAATAC	0.264			T	PLAG1	salivary adenoma																																p.I100I	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T300C	5						.						59.0	62.0	61.0					5																	38527354		2201	4297	6498	38563111	SO:0001819	synonymous_variant	3977	exon4			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.300T>C	5.37:g.38527354A>G		Somatic		Capture	Illumina HiSeq	Phase_I	38563111	NM_001127671	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.264	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
OSMR	9180	broad.mit.edu	37	5	38884014	38884014	+	Silent	SNP	C	C	T	rs552047042	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38884014C>T	ENST00000274276.3	+	5	906	c.504C>T	c.(502-504)taC>taT	p.Y168Y	OSMR_ENST00000502536.1_Silent_p.Y168Y	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	168					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.Y168Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCATTTGTTACGTTTCTAGGA	0.353													C|||	18	0.00359425	0.0	0.0	5008	,	,		22004	0.0		0.0	False		,,,				2504	0.0184				p.Y168Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	5						.						113.0	103.0	106.0					5																	38884014		2203	4300	6503	38919771	SO:0001819	synonymous_variant	9180	exon5			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.504C>T	5.37:g.38884014C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38919771	NM_003999	Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	CCDS3928.1																																																																																				0.353	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
RICTOR	253260	broad.mit.edu	37	5	38950689	38950689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38950689G>T	ENST00000357387.3	-	31	3291	c.3261C>A	c.(3259-3261)ttC>ttA	p.F1087L	RICTOR_ENST00000296782.5_Missense_Mutation_p.F1087L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.F1087L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAGAAGCAAAGAAAGGGAATG	0.358																																					p.F1087L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3261A	5						.						140.0	143.0	142.0					5																	38950689		2203	4300	6503	38986446	SO:0001583	missense	253260	exon31				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3261C>A	5.37:g.38950689G>T	ENSP00000349959:p.Phe1087Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38986446	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602503	0.28534	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.41065	1.01;1.01	5.86	4.04	0.47022	.	0.133709	0.64402	D	0.000001	T	0.28896	0.0717	L	0.29908	0.895	0.36079	D	0.842649	B;B	0.20671	0.047;0.047	B;B	0.18561	0.022;0.022	T	0.32268	-0.9913	10	0.87932	D	0	-15.653	7.1132	0.25403	0.2876:0.0:0.7124:0.0	.	1087;1087	Q6R327;Q6R327-3	RICTR_HUMAN;.	L	1087	ENSP00000349959:F1087L;ENSP00000296782:F1087L	ENSP00000296782:F1087L	F	-	3	2	RICTOR	38986446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.430000	0.44766	1.594000	0.50039	0.650000	0.86243	TTC		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
RICTOR	253260	broad.mit.edu	37	5	38967304	38967304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:38967304C>T	ENST00000357387.3	-	14	1207	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	RICTOR_ENST00000296782.5_Missense_Mutation_p.A393T	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.A393T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATCAGTGCCAAATAATTA	0.308																																					p.A393T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1177A	5						.						131.0	154.0	146.0					5																	38967304		2203	4298	6501	39003061	SO:0001583	missense	253260	exon14				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1177G>A	5.37:g.38967304C>T	ENSP00000349959:p.Ala393Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39003061	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397517	0.96009	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.56103	0.48;0.49	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.64676	1.99	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.79784	0.97;0.993	T	0.73729	-0.3891	10	0.87932	D	0	-16.0649	19.4635	0.94929	0.0:1.0:0.0:0.0	.	393;393	Q6R327;Q6R327-3	RICTR_HUMAN;.	T	393	ENSP00000349959:A393T;ENSP00000296782:A393T	ENSP00000296782:A393T	A	-	1	0	RICTOR	39003061	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.221000	0.78016	2.661000	0.90470	0.591000	0.81541	GCA		0.308	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
FYB	2533	broad.mit.edu	37	5	39138763	39138763	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:39138763C>A	ENST00000351578.6	-	6	1580	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	FYB_ENST00000512982.1_Missense_Mutation_p.D464Y|FYB_ENST00000540520.1_Missense_Mutation_p.D474Y|FYB_ENST00000505428.1_Missense_Mutation_p.D464Y|FYB_ENST00000515010.1_Missense_Mutation_p.D464Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	464					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.D464Y(2)|p.D474Y(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCATACATGTCTTCATATGTT	0.289																																					p.D464Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1390T	5						.						72.0	69.0	70.0					5																	39138763		1797	4058	5855	39174520	SO:0001583	missense	2533	exon6			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1390G>T	5.37:g.39138763C>A	ENSP00000316460:p.Asp464Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39174520	NM_199335	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746185	0.69418	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.29142	1.58;1.58;1.62;1.62;1.62	5.54	5.54	0.83059	.	0.295409	0.35378	N	0.003246	T	0.55689	0.1936	M	0.66939	2.045	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56872	-0.7907	10	0.72032	D	0.01	.	17.283	0.87133	0.0:1.0:0.0:0.0	.	474;464	B4DLN2;O15117	.;FYB_HUMAN	Y	464;464;464;464;474;464	ENSP00000316460:D464Y;ENSP00000426346:D464Y;ENSP00000425845:D464Y;ENSP00000427114:D464Y;ENSP00000442840:D474Y	ENSP00000316460:D464Y	D	-	1	0	FYB	39174520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.785000	0.62418	2.615000	0.88500	0.655000	0.94253	GAC		0.289	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
DAB2	1601	broad.mit.edu	37	5	39394413	39394413	+	Missense_Mutation	SNP	C	C	T	rs143700405	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:39394413C>T	ENST00000320816.6	-	2	477	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	DAB2_ENST00000339788.6_Missense_Mutation_p.E4K|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.E4K|DAB2_ENST00000509337.1_Missense_Mutation_p.E4K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	4					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.E4K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTTCTACTTCGTTAGACATG	0.483													C|||	5	0.000998403	0.0	0.0	5008	,	,		19744	0.0		0.003	False		,,,				2504	0.002				p.E4K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10A	5						.	C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	145.0	130.0	135.0		10	5.9	1.0	5	dbSNP_134	135	19,8581	14.0+/-48.4	0,19,4281	yes	missense	DAB2	NM_001343.3	56	0,22,6481	TT,TC,CC		0.2209,0.0681,0.1692	probably-damaging	4/771	39394413	22,12984	2203	4300	6503	39430170	SO:0001583	missense	1601	exon2			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.10G>A	5.37:g.39394413C>T	ENSP00000313391:p.Glu4Lys	Somatic		Capture	Illumina HiSeq	Phase_I	39430170	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	31	5.073968	0.94000	6.81E-4	0.002209	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	T;T;T;T	0.42131	0.98;1.08;0.98;0.98	5.87	5.87	0.94306	.	0.357573	0.36409	N	0.002617	T	0.65595	0.2706	M	0.66939	2.045	0.47476	D	0.999435	D;D	0.89917	1.0;1.0	D;D	0.74348	0.923;0.983	T	0.65689	-0.6107	10	0.72032	D	0.01	-21.2772	20.1948	0.98239	0.0:1.0:0.0:0.0	.	4;4	P98082;P98082-3	DAB2_HUMAN;.	K	4	ENSP00000313391:E4K;ENSP00000345508:E4K;ENSP00000439919:E4K;ENSP00000426245:E4K	ENSP00000313391:E4K	E	-	1	0	DAB2	39430170	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	5.154000	0.64894	2.782000	0.95742	0.561000	0.74099	GAA		0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
CARD6	84674	broad.mit.edu	37	5	40852810	40852810	+	Missense_Mutation	SNP	G	G	A	rs199835164		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:40852810G>A	ENST00000254691.5	+	3	1575	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	459					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.R459H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTTTTGTGCGTCTAGGATAC	0.433																																					p.R459H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1376A	5						.						86.0	90.0	89.0					5																	40852810		2203	4300	6503	40888567	SO:0001583	missense	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1376G>A	5.37:g.40852810G>A	ENSP00000254691:p.Arg459His	Somatic		Capture	Illumina HiSeq	Phase_I	40888567	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858369	0.71834	.	.	ENSG00000132357	ENST00000254691	T	0.30981	1.51	5.48	3.72	0.42706	.	0.000000	0.56097	D	0.000022	T	0.33962	0.0881	M	0.84326	2.69	0.80722	D	1	P	0.49696	0.927	B	0.36030	0.216	T	0.45991	-0.9223	10	0.87932	D	0	-8.2544	12.3661	0.55230	0.0961:0.0:0.9039:0.0	.	459	Q9BX69	CARD6_HUMAN	H	459	ENSP00000254691:R459H	ENSP00000254691:R459H	R	+	2	0	CARD6	40888567	1.000000	0.71417	0.688000	0.30117	0.980000	0.70556	3.365000	0.52335	0.896000	0.36366	0.650000	0.86243	CGT		0.433	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
CARD6	84674	broad.mit.edu	37	5	40854209	40854209	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:40854209A>G	ENST00000254691.5	+	3	2974	c.2775A>G	c.(2773-2775)tcA>tcG	p.S925S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	925					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.S925S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTGGGGCTTCAAATCCAGCTC	0.507																																					p.S925S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2775G	5						.						125.0	136.0	132.0					5																	40854209		2203	4300	6503	40889966	SO:0001819	synonymous_variant	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2775A>G	5.37:g.40854209A>G		Somatic		Capture	Illumina HiSeq	Phase_I	40889966	NM_032587	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.507	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
C7	730	broad.mit.edu	37	5	40962238	40962238	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:40962238T>C	ENST00000313164.9	+	13	2072	c.1713T>C	c.(1711-1713)tgT>tgC	p.C571C		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	571	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C571C(1)					Ovarian(839;0.0112)				CAGAATTCTGTCCATCACCTC	0.358																																					p.C571C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1713C	5						.						106.0	97.0	100.0					5																	40962238		1846	4091	5937	40997995	SO:0001819	synonymous_variant	730	exon13			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1713T>C	5.37:g.40962238T>C		Somatic		Capture	Illumina HiSeq	Phase_I	40997995	NM_000587	Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	CCDS47201.1																																																																																				0.358	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
MROH2B	133558	broad.mit.edu	37	5	41000446	41000446	+	Missense_Mutation	SNP	C	C	T	rs367639574		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41000446C>T	ENST00000399564.4	-	39	4808	c.4358G>A	c.(4357-4359)cGt>cAt	p.R1453H	MROH2B_ENST00000506092.2_Missense_Mutation_p.R1008H	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1453								p.R1453H(1)|p.R1453L(1)									CAAGACATCACGGCAAGCCTG	0.483																																					p.R1453H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4358A	5						.	C	HIS/ARG	2,3826		0,2,1912	50.0	50.0	50.0		4358	6.0	1.0	5		50	0,8246		0,0,4123	no	missense	HEATR7B2	NM_173489.4	29	0,2,6035	TT,TC,CC		0.0,0.0522,0.0166	possibly-damaging	1453/1586	41000446	2,12072	1914	4123	6037	41036203	SO:0001583	missense	133558	exon39				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4358G>A	5.37:g.41000446C>T	ENSP00000382476:p.Arg1453His	Somatic		Capture	Illumina HiSeq	Phase_I	41036203	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725222	0.89298	5.22E-4	0.0	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65364	-0.15;-0.15	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.097397	0.46145	D	0.000301	T	0.72479	0.3465	M	0.63843	1.955	0.40382	D	0.979456	D	0.65815	0.995	P	0.55824	0.785	T	0.74405	-0.3676	10	0.59425	D	0.04	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	1453	Q7Z745	HTRB2_HUMAN	H	1008;1158;1453	ENSP00000441504:R1008H;ENSP00000382476:R1453H	ENSP00000296803:R1158H	R	-	2	0	HEATR7B2	41036203	0.999000	0.42202	1.000000	0.80357	0.909000	0.53808	2.172000	0.42463	2.840000	0.97914	0.655000	0.94253	CGT		0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MROH2B	133558	broad.mit.edu	37	5	41007531	41007531	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41007531A>C	ENST00000399564.4	-	34	4084	c.3634T>G	c.(3634-3636)Ttg>Gtg	p.L1212V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L767V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1212								p.L1212V(1)									TGGGCTTGCAAACATTTTAAA	0.448																																					p.L1212V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3634G	5						.						61.0	56.0	58.0					5																	41007531		1856	4095	5951	41043288	SO:0001583	missense	133558	exon34				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3634T>G	5.37:g.41007531A>C	ENSP00000382476:p.Leu1212Val	Somatic		Capture	Illumina HiSeq	Phase_I	41043288	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	5.256	0.232699	0.09969	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.02301	4.35;4.59	6.08	1.63	0.23807	Armadillo-type fold (1);	0.118064	0.37483	N	0.002061	T	0.01523	0.0049	N	0.20685	0.6	0.31036	N	0.716825	B	0.12013	0.005	B	0.14023	0.01	T	0.44065	-0.9352	10	0.09843	T	0.71	.	8.8178	0.35007	0.1873:0.3233:0.4894:0.0	.	1212	Q7Z745	HTRB2_HUMAN	V	767;917;1212	ENSP00000441504:L767V;ENSP00000382476:L1212V	ENSP00000296803:L917V	L	-	1	2	HEATR7B2	41043288	0.796000	0.28864	0.501000	0.27601	0.406000	0.30931	0.111000	0.15458	-0.010000	0.14271	-0.274000	0.10170	TTG		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MROH2B	133558	broad.mit.edu	37	5	41018468	41018468	+	Missense_Mutation	SNP	G	G	A	rs369144504		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41018468G>A	ENST00000399564.4	-	27	3188	c.2738C>T	c.(2737-2739)gCg>gTg	p.A913V	MROH2B_ENST00000506092.2_Missense_Mutation_p.A468V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	913								p.A913V(1)									CAGCACTTTCGCAGTGATCTG	0.393																																					p.A913V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2738T	5						.						107.0	97.0	100.0					5																	41018468		1871	4105	5976	41054225	SO:0001583	missense	133558	exon27				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2738C>T	5.37:g.41018468G>A	ENSP00000382476:p.Ala913Val	Somatic		Capture	Illumina HiSeq	Phase_I	41054225	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639507	0.47153	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69685	-0.24;-0.42	5.96	5.09	0.68999	Armadillo-type fold (1);	0.312863	0.27513	N	0.019027	T	0.58235	0.2108	L	0.32530	0.975	0.09310	N	1	D	0.56035	0.974	P	0.47251	0.542	T	0.50676	-0.8800	10	0.13108	T	0.6	.	13.0642	0.59024	0.0:0.1728:0.8272:0.0	.	913	Q7Z745	HTRB2_HUMAN	V	468;618;913	ENSP00000441504:A468V;ENSP00000382476:A913V	ENSP00000296803:A618V	A	-	2	0	HEATR7B2	41054225	0.567000	0.26626	0.019000	0.16419	0.671000	0.39405	2.974000	0.49272	1.519000	0.48950	0.655000	0.94253	GCG		0.393	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MROH2B	133558	broad.mit.edu	37	5	41033206	41033206	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41033206G>A	ENST00000399564.4	-	23	2748	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	MROH2B_ENST00000506092.2_Silent_p.V321V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	766								p.V766V(1)									CAGCATCTTGGACAGCAATGC	0.453																																					p.V766V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2298T	5						.						123.0	115.0	117.0					5																	41033206		2026	4186	6212	41068963	SO:0001819	synonymous_variant	133558	exon23				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2298C>T	5.37:g.41033206G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41068963	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MROH2B	133558	broad.mit.edu	37	5	41049424	41049424	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41049424T>C	ENST00000399564.4	-	14	1909	c.1459A>G	c.(1459-1461)Agt>Ggt	p.S487G	MROH2B_ENST00000506092.2_Missense_Mutation_p.S42G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	487								p.S487G(1)									TCCTTGGCACTGTGCTGCTTC	0.453																																					p.S487G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1459G	5						.						92.0	88.0	89.0					5																	41049424		1964	4156	6120	41085181	SO:0001583	missense	133558	exon14				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1459A>G	5.37:g.41049424T>C	ENSP00000382476:p.Ser487Gly	Somatic		Capture	Illumina HiSeq	Phase_I	41085181	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	7.448	0.642063	0.14451	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.08008	3.14;3.14	5.7	2.94	0.34122	Armadillo-type fold (1);	0.278703	0.25714	N	0.028797	T	0.02533	0.0077	N	0.01352	-0.895	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.44513	-0.9323	10	0.25106	T	0.35	.	6.5618	0.22491	0.0:0.2436:0.0:0.7564	.	487	Q7Z745	HTRB2_HUMAN	G	42;191;487	ENSP00000441504:S42G;ENSP00000382476:S487G	ENSP00000296803:S191G	S	-	1	0	HEATR7B2	41085181	0.000000	0.05858	0.008000	0.14137	0.641000	0.38312	0.005000	0.13129	0.302000	0.22762	0.528000	0.53228	AGT		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
C6	729	broad.mit.edu	37	5	41159289	41159289	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41159289G>A	ENST00000263413.3	-	12	2015	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	C6_ENST00000337836.5_Missense_Mutation_p.S584L|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	584	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S584L(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCGGGTTCTCGATCTCTTATA	0.498																																					p.S584L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1751T	5						.						94.0	99.0	98.0					5																	41159289		2203	4300	6503	41195046	SO:0001583	missense	729	exon12			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1751C>T	5.37:g.41159289G>A	ENSP00000263413:p.Ser584Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41195046	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554915	0.27739	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.17854	2.25;2.25	5.23	2.3	0.28687	.	0.848332	0.10630	N	0.652274	T	0.14527	0.0351	L	0.42008	1.315	0.28955	N	0.890192	P	0.45827	0.867	B	0.43194	0.411	T	0.13791	-1.0496	10	0.33141	T	0.24	-1.39	4.115	0.10077	0.0792:0.3677:0.3443:0.2088	.	584	P13671	CO6_HUMAN	L	584	ENSP00000338861:S584L;ENSP00000263413:S584L	ENSP00000263413:S584L	S	-	2	0	C6	41195046	0.622000	0.27085	0.866000	0.34008	0.003000	0.03518	1.086000	0.30853	0.890000	0.36211	-0.894000	0.02916	TCG		0.498	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
C6	729	broad.mit.edu	37	5	41195985	41195985	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41195985C>A	ENST00000263413.3	-	5	760	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	C6_ENST00000337836.5_Missense_Mutation_p.D166Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	166	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.D166Y(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTGAATTGTCTCCACAGTCA	0.413																																					p.D166Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496T	5						.						220.0	195.0	203.0					5																	41195985		2203	4300	6503	41231742	SO:0001583	missense	729	exon5			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.496G>T	5.37:g.41195985C>A	ENSP00000263413:p.Asp166Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	41231742	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628227	0.87560	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.97688	-4.49;-4.49	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98281	1.0508	10	0.87932	D	0	-26.1381	18.4936	0.90856	0.0:1.0:0.0:0.0	.	166	P13671	CO6_HUMAN	Y	166	ENSP00000338861:D166Y;ENSP00000263413:D166Y	ENSP00000263413:D166Y	D	-	1	0	C6	41231742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	2.657000	0.90304	0.650000	0.86243	GAC		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
PLCXD3	345557	broad.mit.edu	37	5	41382161	41382161	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41382161G>T	ENST00000377801.3	-	2	653	c.579C>A	c.(577-579)gtC>gtA	p.V193V	PLCXD3_ENST00000328457.3_Silent_p.V193V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	193	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.V193V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TATGGTAGAAGACCAGCACTT	0.498																																					p.V193V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579A	5						.						76.0	72.0	74.0					5																	41382161		2203	4300	6503	41417918	SO:0001819	synonymous_variant	345557	exon2				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.579C>A	5.37:g.41382161G>T		Somatic		Capture	Illumina HiSeq	Phase_I	41417918	NM_001005473	A6NL04	Silent	SNP	ENST00000377801.3	37	CCDS34150.1																																																																																				0.498	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
PLCXD3	345557	broad.mit.edu	37	5	41382633	41382633	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41382633G>T	ENST00000377801.3	-	2	181	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S36Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	36	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.S36Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGAATCATGAGACCCTAGGAG	0.463																																					p.S36Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107A	5						.						37.0	41.0	40.0					5																	41382633		2181	4283	6464	41418390	SO:0001583	missense	345557	exon2				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.107C>A	5.37:g.41382633G>T	ENSP00000367032:p.Ser36Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	41418390	NM_001005473	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332357	0.81801	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.93	5.93	0.95920	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.000000	0.85682	D	0.000000	D	0.86155	0.5865	M	0.90483	3.12	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.87798	0.2623	9	0.87932	D	0	-14.009	20.3368	0.98748	0.0:0.0:1.0:0.0	.	36	Q63HM9	PLCX3_HUMAN	Y	36	.	ENSP00000333751:S36Y	S	-	2	0	PLCXD3	41418390	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.434000	0.97515	2.805000	0.96524	0.655000	0.94253	TCT		0.463	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
OXCT1	5019	broad.mit.edu	37	5	41794858	41794858	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41794858A>G	ENST00000196371.5	-	12	1260				OXCT1_ENST00000509987.1_Intron|OXCT1_ENST00000512084.1_5'Flank|OXCT1_ENST00000513081.1_5'Flank|OXCT1_ENST00000510634.1_5'Flank	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCCTAAACACACACACACA	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						54.0	53.0	54.0					5																	41794858		2203	4300	6503	41830615	SO:0001627	intron_variant	5019	.			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1100-7T>C	5.37:g.41794858A>G		Somatic		Capture	Illumina HiSeq	Phase_I	41830615	.	B2R5V2|B7Z528	Intron	SNP	ENST00000196371.5	37	CCDS3937.1																																																																																				0.403	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	
C5orf51	285636	broad.mit.edu	37	5	41917356	41917356	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:41917356G>A	ENST00000381647.2	+	6	859	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	280								p.T280T(2)		endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGAATACAACGAATGCAAAAC	0.343																																					p.T280T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G840A	5						.						77.0	76.0	76.0					5																	41917356		2203	4300	6503	41953113	SO:0001819	synonymous_variant	285636	exon6			AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.840G>A	5.37:g.41917356G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41953113	NM_175921	A2RRM9	Silent	SNP	ENST00000381647.2	37	CCDS34151.1																																																																																				0.343	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921	
GHR	2690	broad.mit.edu	37	5	42700031	42700031	+	Missense_Mutation	SNP	A	A	C	rs45477803	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:42700031A>C	ENST00000230882.4	+	6	735	c.545A>C	c.(544-546)gAt>gCt	p.D182A	GHR_ENST00000357703.3_Missense_Mutation_p.D160A|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	182	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D182A(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CGCAATGCAGATATTCAGAAA	0.408																																					p.D182A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A545C	5						.						129.0	113.0	119.0					5																	42700031		2203	4300	6503	42735788	SO:0001583	missense	2690	exon6				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.545A>C	5.37:g.42700031A>C	ENSP00000230882:p.Asp182Ala	Somatic		Capture	Illumina HiSeq	Phase_I	42735788	NM_000163	Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700805	0.88924	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.94457	-3.43;-3.43	5.91	5.91	0.95273	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98925	1.0785	10	0.87932	D	0	-18.0234	16.3513	0.83213	1.0:0.0:0.0:0.0	.	182	P10912	GHR_HUMAN	A	182;160;182	ENSP00000230882:D182A;ENSP00000350335:D160A	ENSP00000230882:D182A	D	+	2	0	GHR	42735788	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.652000	0.91083	2.252000	0.74401	0.533000	0.62120	GAT		0.408	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
GHR	2690	broad.mit.edu	37	5	42718218	42718218	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:42718218C>A	ENST00000230882.4	+	9	1130	c.940C>A	c.(940-942)Ctc>Atc	p.L314I	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.L292I|GHR_ENST00000537449.1_Missense_Mutation_p.L127I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	314					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L314I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCAGATCTCCTCAAGGTAAC	0.323																																					p.L314I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940A	5						.						46.0	46.0	46.0					5																	42718218		2203	4296	6499	42753975	SO:0001583	missense	2690	exon9				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.940C>A	5.37:g.42718218C>A	ENSP00000230882:p.Leu314Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42753975	NM_000163	Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398954	0.42512	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	D;D;D	0.89746	-2.56;-2.43;-1.79	5.72	3.84	0.44239	.	0.182249	0.47852	D	0.000215	D	0.88706	0.6509	M	0.91663	3.23	0.58432	D	0.999994	P	0.44006	0.824	B	0.36092	0.217	D	0.87324	0.2320	10	0.87932	D	0	-4.6536	7.3027	0.26430	0.0:0.665:0.0:0.335	.	314	P10912	GHR_HUMAN	I	314;292;127	ENSP00000230882:L314I;ENSP00000350335:L292I;ENSP00000442206:L127I	ENSP00000230882:L314I	L	+	1	0	GHR	42753975	0.970000	0.33590	0.992000	0.48379	0.607000	0.37147	2.122000	0.41987	0.787000	0.33731	-0.194000	0.12790	CTC		0.323	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
GHR	2690	broad.mit.edu	37	5	42718876	42718876	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:42718876C>A	ENST00000230882.4	+	10	1457	c.1267C>A	c.(1267-1269)Ctc>Atc	p.L423I	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.L401I|GHR_ENST00000537449.1_Missense_Mutation_p.L236I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	423					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L423I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGAAGCAGATCTCTTATGCCT	0.448																																					p.L423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1267A	5						.						85.0	75.0	78.0					5																	42718876		2203	4300	6503	42754633	SO:0001583	missense	2690	exon10				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1267C>A	5.37:g.42718876C>A	ENSP00000230882:p.Leu423Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42754633	NM_000163	Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389541	0.42410	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.52295	0.67;0.67;0.67	6.02	5.14	0.70334	.	0.285709	0.34580	N	0.003843	T	0.60457	0.2270	M	0.87758	2.905	0.49687	D	0.999816	B	0.17465	0.022	B	0.32022	0.139	T	0.61831	-0.6982	10	0.48119	T	0.1	-6.8049	16.6496	0.85185	0.131:0.869:0.0:0.0	.	423	P10912	GHR_HUMAN	I	423;401;236	ENSP00000230882:L423I;ENSP00000350335:L401I;ENSP00000442206:L236I	ENSP00000230882:L423I	L	+	1	0	GHR	42754633	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.138000	0.42140	1.532000	0.49169	0.591000	0.81541	CTC		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
PAIP1	10605	broad.mit.edu	37	5	43556110	43556110	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:43556110G>T	ENST00000306846.3	-	2	498				PAIP1_ENST00000436644.2_Intron|PAIP1_ENST00000338972.4_Intron|PAIP1_ENST00000514514.1_Intron	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTCTGCAAAAGAAAAAAAAAC	0.448																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						68.0	77.0	74.0					5																	43556110		2200	4300	6500	43591867	SO:0001627	intron_variant	10605	.			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.266-9C>A	5.37:g.43556110G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43591867	.	A6NKV8|O60455|Q96B61|Q9BS63	Intron	SNP	ENST00000306846.3	37	CCDS3947.1																																																																																				0.448	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
HCN1	348980	broad.mit.edu	37	5	45262140	45262140	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:45262140C>T	ENST00000303230.4	-	8	2613	c.2556G>A	c.(2554-2556)ccG>ccA	p.P852P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	852					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P852P(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCCTCGGTTCGGGGGGATGG	0.632																																					p.P852P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.G2556A	5						.						52.0	62.0	58.0					5																	45262140		2203	4300	6503	45297897	SO:0001819	synonymous_variant	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2556G>A	5.37:g.45262140C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45297897	NM_021072		Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PARP8	79668	broad.mit.edu	37	5	50056143	50056143	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:50056143G>T	ENST00000281631.5	+	5	450	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PARP8_ENST00000505697.2_Missense_Mutation_p.D98Y|PARP8_ENST00000505554.1_Missense_Mutation_p.D77Y|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.D98Y|PARP8_ENST00000514067.2_Missense_Mutation_p.D98Y|PARP8_ENST00000511363.2_Intron	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	98						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D98Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAAAACAAATGACATTAACTG	0.229																																					p.D98Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292T	5						.						16.0	17.0	17.0					5																	50056143		2114	4214	6328	50091900	SO:0001583	missense	79668	exon6			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.292G>T	5.37:g.50056143G>T	ENSP00000281631:p.Asp98Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	50091900	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039716	0.75732	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000503046;ENST00000505554	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.60959	-0.7159	8	.	.	.	-19.2492	17.339	0.87291	0.0:0.0:1.0:0.0	.	98;98	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	Y	98;98;98;98;98;77	.	.	D	+	1	0	PARP8	50091900	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.744000	0.68664	2.779000	0.95612	0.591000	0.81541	GAC		0.229	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
PARP8	79668	broad.mit.edu	37	5	50091129	50091129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:50091129G>A	ENST00000281631.5	+	12	1464	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	PARP8_ENST00000505697.2_Missense_Mutation_p.A436T|PARP8_ENST00000505554.1_Missense_Mutation_p.A415T|PARP8_ENST00000514342.2_Missense_Mutation_p.A189T|PARP8_ENST00000503750.2_Missense_Mutation_p.A436T|PARP8_ENST00000514067.2_Missense_Mutation_p.A436T|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	436						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A436T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTACTCCAGTGCCCCCAAGTC	0.448																																					p.A436T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306A	5						.						83.0	85.0	85.0					5																	50091129		2203	4300	6503	50126886	SO:0001583	missense	79668	exon13			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1306G>A	5.37:g.50091129G>A	ENSP00000281631:p.Ala436Thr	Somatic		Capture	Illumina HiSeq	Phase_I	50126886	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231268	0.22626	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.49	5.49	0.81192	.	0.271682	0.36234	N	0.002719	T	0.40423	0.1116	N	0.14661	0.345	0.42695	D	0.993593	B;B;B	0.33238	0.0;0.403;0.0	B;B;B	0.25405	0.001;0.06;0.001	T	0.27773	-1.0064	8	.	.	.	-1.2234	19.7306	0.96180	0.0:0.0:1.0:0.0	.	328;436;436	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	T	436;436;189;436;436;415;189;189	.	.	A	+	1	0	PARP8	50126886	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.770000	0.55310	2.707000	0.92482	0.655000	0.94253	GCC		0.448	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
PARP8	79668	broad.mit.edu	37	5	50117054	50117054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:50117054A>G	ENST00000281631.5	+	16	1834	c.1676A>G	c.(1675-1677)gAt>gGt	p.D559G	PARP8_ENST00000505697.2_Missense_Mutation_p.D559G|PARP8_ENST00000505554.1_Missense_Mutation_p.D538G|PARP8_ENST00000514342.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	559						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D559G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAGGTGGTAGATCTACTAGTA	0.398																																					p.D559G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1676G	5						.						156.0	141.0	146.0					5																	50117054		2203	4300	6503	50152811	SO:0001583	missense	79668	exon17			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1676A>G	5.37:g.50117054A>G	ENSP00000281631:p.Asp559Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50152811	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691403	0.68271	.	.	ENSG00000151883	ENST00000505697;ENST00000281631;ENST00000505554	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.67397	2.05	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.76785	-0.2831	8	.	.	.	-22.9069	16.3473	0.83146	1.0:0.0:0.0:0.0	.	451;559	B4DQ81;Q8N3A8	.;PARP8_HUMAN	G	559;559;538	.	.	D	+	2	0	PARP8	50152811	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	GAT		0.398	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
ISL1	3670	broad.mit.edu	37	5	50680543	50680543	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:50680543A>G	ENST00000230658.7	+	2	782	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	ISL1_ENST00000511384.1_Missense_Mutation_p.Y66C|CTD-2314G24.2_ENST00000559112.2_RNA	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	66	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.Y66C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGAAAACCTACTGTAAAAGA	0.408																																					p.Y66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197G	5						.						187.0	177.0	180.0					5																	50680543		1873	4115	5988	50716300	SO:0001583	missense	3670	exon2			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.197A>G	5.37:g.50680543A>G	ENSP00000230658:p.Tyr66Cys	Somatic		Capture	Illumina HiSeq	Phase_I	50716300	NM_002202	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548921	0.65311	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.92348	-3.02;-3.02	6.16	6.16	0.99307	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99667	1.0995	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	66	P61371	ISL1_HUMAN	C	66	ENSP00000230658:Y66C;ENSP00000422676:Y66C	ENSP00000230658:Y66C	Y	+	2	0	ISL1	50716300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.305000	0.96197	2.367000	0.80283	0.528000	0.53228	TAC		0.408	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
ITGA1	3672	broad.mit.edu	37	5	52205981	52205981	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:52205981C>A	ENST00000282588.6	+	14	2057					NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCTGTTTATCTTTCTTCCAG	0.353																																					.												.	.	0			.	5						.						59.0	70.0	66.0					5																	52205981		2203	4300	6503	52241738	SO:0001627	intron_variant	3672	.			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1600-11C>A	5.37:g.52205981C>A		Somatic		Capture	Illumina HiSeq	Phase_I	52241738	.	B2RNU0	Intron	SNP	ENST00000282588.6	37	CCDS3955.1																																																																																				0.353	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
ITGA1	3672	broad.mit.edu	37	5	52235716	52235716	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:52235716C>A	ENST00000282588.6	+	26	3685	c.3227C>A	c.(3226-3228)tCt>tAt	p.S1076Y	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1076					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.S1076Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATCTCACTTCTTCTGACATC	0.318																																					p.S1076Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3227A	5						.						124.0	104.0	111.0					5																	52235716		2202	4300	6502	52271473	SO:0001583	missense	3672	exon26			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3227C>A	5.37:g.52235716C>A	ENSP00000282588:p.Ser1076Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52271473	NM_181501	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512483	0.44660	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	6.05	6.05	0.98169	.	0.302249	0.37715	N	0.001967	T	0.40595	0.1123	L	0.38175	1.15	0.28895	N	0.893626	P	0.39311	0.667	B	0.34931	0.192	T	0.48210	-0.9055	10	0.59425	D	0.04	.	17.518	0.87779	0.0:1.0:0.0:0.0	.	1076	P56199	ITA1_HUMAN	Y	1076	ENSP00000282588:S1076Y	ENSP00000282588:S1076Y	S	+	2	0	ITGA1	52271473	1.000000	0.71417	0.645000	0.29479	0.393000	0.30537	5.048000	0.64238	2.878000	0.98634	0.650000	0.86243	TCT		0.318	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
ITGA2	3673	broad.mit.edu	37	5	52377521	52377521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:52377521G>T	ENST00000296585.5	+	26	3282	c.3139G>T	c.(3139-3141)Gaa>Taa	p.E1047*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1047					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.E1047*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCACACCAAAGAATTGGTGAG	0.408																																					p.E1047X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3139T	5						.						69.0	65.0	66.0					5																	52377521		2203	4299	6502	52413278	SO:0001587	stop_gained	3673	exon26				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3139G>T	5.37:g.52377521G>T	ENSP00000296585:p.Glu1047*	Somatic		Capture	Illumina HiSeq	Phase_I	52413278	NM_002203	Q14595	Nonsense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	39	7.379137	0.98248	.	.	ENSG00000164171	ENST00000296585	.	.	.	6.08	6.08	0.98989	.	0.399199	0.29783	N	0.011206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.4517	0.90705	0.0:0.0:1.0:0.0	.	.	.	.	X	1047	.	ENSP00000296585:E1047X	E	+	1	0	ITGA2	52413278	1.000000	0.71417	0.981000	0.43875	0.107000	0.19398	6.732000	0.74790	2.894000	0.99253	0.655000	0.94253	GAA		0.408	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
HSPB3	8988	broad.mit.edu	37	5	53751813	53751813	+	Missense_Mutation	SNP	G	G	A	rs371683736		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:53751813G>A	ENST00000302005.1	+	1	369	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	65					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R65Q(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ACGCCACCCCGAGAAGGCAAA	0.557																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	5						.						76.0	70.0	72.0					5																	53751813		2203	4300	6503	53787570	SO:0001583	missense	8988	exon1			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.194G>A	5.37:g.53751813G>A	ENSP00000303394:p.Arg65Gln	Somatic		Capture	Illumina HiSeq	Phase_I	53787570	NM_006308		Missense_Mutation	SNP	ENST00000302005.1	37	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	4.215	0.038670	0.08148	.	.	ENSG00000169271	ENST00000302005	D	0.92699	-3.09	5.89	-8.57	0.00900	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	2.031750	0.02724	N	0.114379	T	0.76378	0.3979	N	0.02368	-0.58	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68812	-0.5310	10	0.16420	T	0.52	-36.026	9.7356	0.40386	0.3281:0.2506:0.4213:0.0	.	65	Q12988	HSPB3_HUMAN	Q	65	ENSP00000303394:R65Q	ENSP00000303394:R65Q	R	+	2	0	HSPB3	53787570	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.225000	0.09151	-1.125000	0.02932	-0.150000	0.13652	CGA		0.557	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
HSPB3	8988	broad.mit.edu	37	5	53752076	53752076	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:53752076C>T	ENST00000302005.1	+	0	632					NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3						cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TAAGTGACATCGTATCGGTTC	0.423																																					.												.	.	0			.	5						.						92.0	87.0	89.0					5																	53752076		2203	4300	6503	53787833	SO:0001624	3_prime_UTR_variant	8988	.			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.*4C>T	5.37:g.53752076C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53787833	.		3'UTR	SNP	ENST00000302005.1	37	CCDS3961.1																																																																																				0.423	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
GZMK	3003	broad.mit.edu	37	5	54320524	54320524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:54320524C>T	ENST00000231009.2	+	2	171	c.101C>T	c.(100-102)tCa>tTa	p.S34L	CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|ESM1_ENST00000598310.1_5'Flank	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	34	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			S -> Q (in Ref. 7; AA sequence). {ECO:0000305}.		extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S34L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAAGAAGTGTCACCTCATTCC	0.438																																					p.S34L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C101T	5						.						63.0	64.0	63.0					5																	54320524		2203	4300	6503	54356281	SO:0001583	missense	3003	exon2			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.101C>T	5.37:g.54320524C>T	ENSP00000231009:p.Ser34Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54356281	NM_002104	B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570775	0.28003	.	.	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	5.11	-0.253	0.12996	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.355500	0.04782	N	0.429952	T	0.78329	0.4266	N	0.20610	0.595	0.09310	N	1	B	0.26120	0.142	B	0.27608	0.081	T	0.63541	-0.6614	10	0.29301	T	0.29	.	1.2644	0.02008	0.2557:0.3938:0.1189:0.2316	.	34	P49863	GRAK_HUMAN	L	34	ENSP00000231009:S34L	ENSP00000231009:S34L	S	+	2	0	GZMK	54356281	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.715000	0.04997	0.091000	0.17302	0.591000	0.81541	TCA		0.438	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
GZMK	3003	broad.mit.edu	37	5	54320634	54320634	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:54320634C>T	ENST00000231009.2	+	2	281	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|ESM1_ENST00000598310.1_5'Flank	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	71	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R71W(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGCCAATATCGGTGAGTCCT	0.458																																					p.R71W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	5						.						45.0	47.0	47.0					5																	54320634		2203	4300	6503	54356391	SO:0001630	splice_region_variant	3003	exon2			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.212+1C>T	5.37:g.54320634C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54356391	NM_002104	B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231108	0.22626	.	.	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	4.55	-3.32	0.04973	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.620050	0.03844	N	0.271092	T	0.80819	0.4696	L	0.39020	1.185	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.61816	-0.6985	10	0.46703	T	0.11	.	1.0944	0.01670	0.1325:0.2794:0.26:0.328	.	71	P49863	GRAK_HUMAN	W	71	ENSP00000231009:R71W	ENSP00000231009:R71W	R	+	1	2	GZMK	54356391	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.684000	0.00394	-0.723000	0.04915	-0.186000	0.12905	CGG		0.458	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	Missense_Mutation
GZMK	3003	broad.mit.edu	37	5	54326252	54326252	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:54326252C>T	ENST00000231009.2	+	3	282				CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATTGTCTTTGCTTTTTTTAGG	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						120.0	113.0	116.0					5																	54326252		2203	4300	6503	54362009	SO:0001627	intron_variant	3003	.			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.213-10C>T	5.37:g.54326252C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54362009	.	B2R563	Intron	SNP	ENST00000231009.2	37	CCDS3964.1																																																																																				0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
GZMK	3003	broad.mit.edu	37	5	54327360	54327360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:54327360C>T	ENST00000231009.2	+	4	602	c.532C>T	c.(532-534)Cga>Tga	p.R178*	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R178*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCCTAAGTCGAAAACTTTG	0.478																																					p.R178X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C532T	5						.						88.0	84.0	86.0					5																	54327360		2203	4300	6503	54363117	SO:0001587	stop_gained	3003	exon4			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.532C>T	5.37:g.54327360C>T	ENSP00000231009:p.Arg178*	Somatic		Capture	Illumina HiSeq	Phase_I	54363117	NM_002104	B2R563	Nonsense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611489	0.66558	.	.	ENSG00000113088	ENST00000231009	.	.	.	5.16	1.97	0.26223	.	0.065645	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6764	0.23095	0.6174:0.289:0.0:0.0935	.	.	.	.	X	178	.	ENSP00000231009:R178X	R	+	1	2	GZMK	54363117	0.627000	0.27129	0.715000	0.30552	0.627000	0.37826	1.104000	0.31074	0.656000	0.30886	0.655000	0.94253	CGA		0.478	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
DHX29	54505	broad.mit.edu	37	5	54570457	54570457	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:54570457C>T	ENST00000251636.5	-	16	2823	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	892	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.R892I(1)|p.R892K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAATAAAATCTTCTATCATT	0.313																																					p.R892K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2675A	5						.						29.0	29.0	29.0					5																	54570457		2200	4284	6484	54606214	SO:0001583	missense	54505	exon16			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2675G>A	5.37:g.54570457C>T	ENSP00000251636:p.Arg892Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54606214	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553904	0.86231	.	.	ENSG00000067248	ENST00000251636	T	0.02579	4.24	4.99	4.99	0.66335	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.34521	1.04	0.54753	D	0.999986	P	0.37423	0.594	B	0.43052	0.406	T	0.59016	-0.7533	10	0.25106	T	0.35	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	892	Q7Z478	DHX29_HUMAN	K	892	ENSP00000251636:R892K	ENSP00000251636:R892K	R	-	2	0	DHX29	54606214	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.221000	0.78016	2.478000	0.83669	0.563000	0.77884	AGA		0.313	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
DDX4	54514	broad.mit.edu	37	5	55076914	55076914	+	Missense_Mutation	SNP	G	G	A	rs534079199		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:55076914G>A	ENST00000505374.1	+	9	609	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DDX4_ENST00000511853.1_Missense_Mutation_p.E40K|DDX4_ENST00000353507.5_Missense_Mutation_p.E139K|DDX4_ENST00000514278.2_Missense_Mutation_p.E153K|DDX4_ENST00000354991.5_Missense_Mutation_p.E139K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	173	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.E173K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGACCCAGACGAATGTATGCA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		16899	0.001		0.0	False		,,,				2504	0.0				p.E173K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	5						.						97.0	97.0	97.0					5																	55076914		2203	4300	6503	55112671	SO:0001583	missense	54514	exon9			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.517G>A	5.37:g.55076914G>A	ENSP00000424838:p.Glu173Lys	Somatic		Capture	Illumina HiSeq	Phase_I	55112671	NM_024415	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	9.480	1.097997	0.20552	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.21361	2.02;2.06;2.03;3.59;2.02;2.01	5.39	3.59	0.41128	.	0.255620	0.30658	N	0.009159	T	0.06962	0.0177	N	0.02011	-0.69	0.28353	N	0.920806	B;B;B;B	0.28258	0.002;0.205;0.003;0.002	B;B;B;B	0.22152	0.004;0.038;0.002;0.001	T	0.19943	-1.0290	10	0.31617	T	0.26	-10.6248	7.2969	0.26397	0.0906:0.1763:0.7331:0.0	.	153;40;139;173	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	K	139;153;173;153;139;40	ENSP00000334167:E139K;ENSP00000425359:E153K;ENSP00000424838:E173K;ENSP00000427167:E153K;ENSP00000347087:E139K;ENSP00000423123:E40K	ENSP00000334167:E139K	E	+	1	0	DDX4	55112671	1.000000	0.71417	0.622000	0.29159	0.005000	0.04900	1.855000	0.39378	0.814000	0.34374	-0.143000	0.13931	GAA		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
IL31RA	133396	broad.mit.edu	37	5	55168150	55168150	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:55168150A>C	ENST00000447346.2	+	4	390	c.325A>C	c.(325-327)Aat>Cat	p.N109H	IL31RA_ENST00000396834.1_Missense_Mutation_p.N90H|IL31RA_ENST00000359040.5_Missense_Mutation_p.N109H|IL31RA_ENST00000354961.4_Missense_Mutation_p.N90H|IL31RA_ENST00000396836.2_Missense_Mutation_p.N109H|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000490985.1_5'UTR	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	77	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.N109H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TACAAGTGAAAATCGTGCTTC	0.348																																					p.N109H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A325C	5						.						79.0	82.0	81.0					5																	55168150		2203	4299	6502	55203907	SO:0001583	missense	133396	exon4			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.325A>C	5.37:g.55168150A>C	ENSP00000415900:p.Asn109His	Somatic		Capture	Illumina HiSeq	Phase_I	55203907	NM_139017	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296837	0.60086	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000354961	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	3.36	0.864	0.19068	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.077890	0.02470	U	0.087390	T	0.47340	0.1440	L	0.59436	1.845	0.09310	N	1	D;D;P;D;D	0.65815	0.966;0.958;0.799;0.958;0.995	P;P;P;P;P	0.61201	0.873;0.66;0.568;0.799;0.885	T	0.44097	-0.9350	10	0.07644	T	0.81	-31.1157	5.1519	0.15015	0.7364:0.0:0.2636:0.0	.	77;109;90;109;109	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	H	109;90;109;109;90	ENSP00000380048:N109H;ENSP00000380046:N90H;ENSP00000415900:N109H;ENSP00000351935:N109H;ENSP00000347047:N90H	ENSP00000347047:N90H	N	+	1	0	IL31RA	55203907	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.267000	0.18552	0.072000	0.16694	0.460000	0.39030	AAT		0.348	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
IL31RA	133396	broad.mit.edu	37	5	55195971	55195971	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:55195971C>T	ENST00000447346.2	+	8	1134				IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396836.2_Intron|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000490985.1_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A						cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTAAGTAGAGCATCAACTTCT	0.458																																					.												.	.	0			.	5						.						62.0	69.0	67.0					5																	55195971		2203	4300	6503	55231728	SO:0001627	intron_variant	133396	.			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1069+11C>T	5.37:g.55195971C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55231728	.	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Intron	SNP	ENST00000447346.2	37	CCDS3970.2																																																																																				0.458	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
ANKRD55	79722	broad.mit.edu	37	5	55407326	55407326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:55407326G>T	ENST00000341048.4	-	10	1400	c.1249C>A	c.(1249-1251)Ctc>Atc	p.L417I	ANKRD55_ENST00000434982.2_Missense_Mutation_p.L129I|ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000504958.2_Missense_Mutation_p.L374I	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	417								p.L417I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCTGGTAAGAGATATTTTGAA	0.483																																					p.L417I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1249A	5						.						119.0	121.0	120.0					5																	55407326		2203	4300	6503	55443083	SO:0001583	missense	79722	exon10			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1249C>A	5.37:g.55407326G>T	ENSP00000342295:p.Leu417Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55443083	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729988	0.48939	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.51574	1.02;0.7;1.12	5.59	5.59	0.84812	.	0.169618	0.39615	N	0.001312	T	0.39306	0.1073	L	0.32530	0.975	0.37786	D	0.927177	B;B	0.31077	0.014;0.307	B;B	0.31946	0.012;0.138	T	0.44329	-0.9335	10	0.62326	D	0.03	.	13.266	0.60133	0.0727:0.0:0.9273:0.0	.	417;416	B3KVT8;Q3KP44	.;ANR55_HUMAN	I	417;417;374;129	ENSP00000342295:L417I;ENSP00000424230:L374I;ENSP00000429421:L129I	ENSP00000342295:L417I	L	-	1	0	ANKRD55	55443083	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.964000	0.56780	2.810000	0.96702	0.650000	0.86243	CTC		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
MAP3K1	4214	broad.mit.edu	37	5	56161771	56161771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:56161771C>A	ENST00000399503.3	+	6	1268	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	423	Poly-Ser.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S260*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACATTGTCATCATCTAGTACT	0.348																																					p.S423X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1268A	5						.						97.0	93.0	94.0					5																	56161771		1880	4110	5990	56197528	SO:0001587	stop_gained	4214	exon6			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1268C>A	5.37:g.56161771C>A	ENSP00000382423:p.Ser423*	Somatic		Capture	Illumina HiSeq	Phase_I	56197528	NM_005921		Nonsense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	37	6.418626	0.97550	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.72	5.72	0.89469	.	0.083491	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	.	.	.	X	423	.	ENSP00000382423:S423X	S	+	2	0	MAP3K1	56197528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.421000	0.73353	2.695000	0.91970	0.650000	0.86243	TCA		0.348	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
MAP3K1	4214	broad.mit.edu	37	5	56189427	56189427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:56189427C>T	ENST00000399503.3	+	20	4459	c.4459C>T	c.(4459-4461)Cgt>Tgt	p.R1487C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R1324C(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGTGGCTCTTCGTTGTTTAGA	0.448																																					p.R1487C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4459T	5						.						135.0	128.0	130.0					5																	56189427		1966	4166	6132	56225184	SO:0001583	missense	4214	exon20			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4459C>T	5.37:g.56189427C>T	ENSP00000382423:p.Arg1487Cys	Somatic		Capture	Illumina HiSeq	Phase_I	56225184	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922897	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.67523	-0.27	6.04	6.04	0.98038	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	0.78868	0.4351	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78735	-0.2088	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	1487	Q13233	M3K1_HUMAN	C	1487	ENSP00000382423:R1487C	ENSP00000382423:R1487C	R	+	1	0	MAP3K1	56225184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.806000	0.75195	2.873000	0.98535	0.561000	0.74099	CGT		0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
SETD9	133383	broad.mit.edu	37	5	56207374	56207374	+	Intron	SNP	G	G	A	rs377461298		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:56207374G>A	ENST00000285947.2	+	2	852				AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9								methyltransferase activity (GO:0008168)										GTAACAGCACGATTAATATTA	0.378																																					.												.	.	0			.	5						.	G	,	0,4396		0,0,2198	87.0	92.0	90.0		,	-0.5	0.0	5		90	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron	C5orf35	NM_001171990.1,NM_153706.3	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	,	56207374	1,12993	2198	4299	6497	56243131	SO:0001627	intron_variant	133383	.			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.466+11G>A	5.37:g.56207374G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56243131	.	F5H713	Intron	SNP	ENST00000285947.2	37	CCDS3972.1																																																																																				0.378	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706	
MIER3	166968	broad.mit.edu	37	5	56242838	56242838	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:56242838T>G	ENST00000381199.3	-	3	105	c.95A>C	c.(94-96)gAc>gCc	p.D32A	MIER3_ENST00000381213.3_Missense_Mutation_p.D32A|MIER3_ENST00000381226.3_Missense_Mutation_p.D37A|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000546593.1_5'Flank			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D32A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		ATCATCATAGTCATGGACCAA	0.358																																					p.D32A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95C	5						.						81.0	77.0	78.0					5																	56242838		2203	4300	6503	56278595	SO:0001583	missense	166968	exon3			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.95A>C	5.37:g.56242838T>G	ENSP00000370596:p.Asp32Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56278595	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	T	29.5	5.015013	0.93404	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000336942	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.6	5.6	0.85130	.	0.042307	0.85682	D	0.000000	T	0.38585	0.1046	M	0.73598	2.24	0.80722	D	1	P;D;D	0.55605	0.956;0.972;0.972	P;P;P	0.51550	0.578;0.673;0.673	T	0.33497	-0.9866	10	0.87932	D	0	-0.9734	16.0773	0.80976	0.0:0.0:0.0:1.0	.	32;37;32	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	A	37;32;32;5	ENSP00000370624:D37A;ENSP00000370611:D32A;ENSP00000370596:D32A;ENSP00000337027:D5A	ENSP00000337027:D5A	D	-	2	0	MIER3	56278595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.254000	0.74563	0.482000	0.46254	GAC		0.358	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
PDE4D	5144	broad.mit.edu	37	5	58999527	58999527	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:58999527G>A	ENST00000340635.6	-	1	631				PDE4D_ENST00000546160.1_Intron|MIR582_ENST00000365731.2_RNA|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	aaagagcacagattgacttgt	0.398																																					.												.	.	0			.	5						.						50.0	42.0	45.0					5																	58999527		1565	3569	5134	59035284	SO:0001627	intron_variant	5144	.				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+189467C>T	5.37:g.58999527G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59035284	.	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	RNA	SNP	ENST00000340635.6	37	CCDS47213.1																																																																																				0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
KIF2A	3796	broad.mit.edu	37	5	61681323	61681323	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:61681323C>A	ENST00000401507.3	+	20	2359	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	KIF2A_ENST00000506857.1_Missense_Mutation_p.S637Y|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.S721Y|KIF2A_ENST00000381103.2_Missense_Mutation_p.S663Y	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	683					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S656C(1)|p.S721C(1)|p.S656Y(1)|p.S721Y(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAAGTGAAATCTTTCCGTGCA	0.428																																					p.S683Y												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C2048A	5						.						54.0	50.0	51.0					5																	61681323		2203	4299	6502	61717080	SO:0001583	missense	3796	exon20			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2048C>A	5.37:g.61681323C>A	ENSP00000385622:p.Ser683Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	61717080	NM_004520	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119889	0.56613	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.74737	-0.7;-0.7;-0.87;-0.7	6.03	6.03	0.97812	.	0.111999	0.64402	D	0.000006	T	0.77968	0.4210	L	0.40543	1.245	0.58432	D	0.999999	B;P;P;B	0.39717	0.375;0.684;0.604;0.413	B;P;P;B	0.48598	0.379;0.583;0.45;0.287	T	0.77021	-0.2742	10	0.59425	D	0.04	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	721;721;683;663	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	Y	683;663;721;637	ENSP00000385622:S683Y;ENSP00000370493:S663Y;ENSP00000385000:S721Y;ENSP00000423772:S637Y	ENSP00000370493:S663Y	S	+	2	0	KIF2A	61717080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.525000	0.67110	2.854000	0.98071	0.655000	0.94253	TCT		0.428	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	
ISCA1P1	389293	broad.mit.edu	37	5	62072810	62072810	+	IGR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:62072810A>C								IPO11 (148401 upstream) : None (None downstream)														p.L94R(1)									TGTTCCTAAAAGTGTTAGCTG	0.358																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	5						.						89.0	100.0	96.0					5																	62072810		2201	4295	6496	62108566	SO:0001628	intergenic_variant	0	.																															5.37:g.62072810A>C		Somatic		Capture	Illumina HiSeq	Phase_I	62108566	.		IGR	SNP		37																																																																																				0	0.358								
HTR1A	3350	broad.mit.edu	37	5	63256668	63256668	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:63256668G>A	ENST00000323865.3	-	1	1112	c.879C>T	c.(877-879)atC>atT	p.I293I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	293					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.I293I(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTGCACCTCGATCACCTCCA	0.647																																					p.I293I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879T	5						.						39.0	38.0	38.0					5																	63256668		2203	4300	6503	63292424	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.879C>T	5.37:g.63256668G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63292424	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
HTR1A	3350	broad.mit.edu	37	5	63257163	63257163	+	Silent	SNP	G	G	A	rs199699351		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:63257163G>A	ENST00000323865.3	-	1	617	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	128					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.C128C(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCGATGGCGCACAGGTGCA	0.622																																					p.C128C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	5						.						69.0	64.0	66.0					5																	63257163		2203	4300	6503	63292919	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.384C>T	5.37:g.63257163G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63292919	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
RGS7BP	401190	broad.mit.edu	37	5	63894270	63894270	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:63894270T>A	ENST00000334025.2	+	5	1008					NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AAGGTGAGTCTTGTCACTTCT	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						138.0	148.0	145.0					5																	63894270		2203	4300	6503	63930026	SO:0001627	intron_variant	401190	.			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.682+8T>A	5.37:g.63894270T>A		Somatic		Capture	Illumina HiSeq	Phase_I	63930026	.	B7Z3X1	Intron	SNP	ENST00000334025.2	37	CCDS34170.1																																																																																				0.358	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875	
CWC27	10283	broad.mit.edu	37	5	64079757	64079757	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:64079757C>G	ENST00000381070.3	+	4	564	c.347C>G	c.(346-348)aCa>aGa	p.T116R	CWC27_ENST00000508024.1_Missense_Mutation_p.T116R	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	116	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T116R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TTTTTCTTCACACTGGGTCGA	0.403																																					p.T116R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347G	5						.						181.0	172.0	175.0					5																	64079757		2203	4300	6503	64115513	SO:0001583	missense	10283	exon4			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.347C>G	5.37:g.64079757C>G	ENSP00000370460:p.Thr116Arg	Somatic		Capture	Illumina HiSeq	Phase_I	64115513	NM_005869	O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786829	0.70337	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.27720	1.65;1.65	5.15	5.15	0.70609	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	H	0.99619	4.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87288	0.2297	10	0.87932	D	0	.	19.1672	0.93562	0.0:1.0:0.0:0.0	.	116;116;116;116	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	R	116	ENSP00000370460:T116R;ENSP00000426802:T116R	ENSP00000370460:T116R	T	+	2	0	CWC27	64115513	1.000000	0.71417	0.970000	0.41538	0.333000	0.28666	7.226000	0.78060	2.833000	0.97629	0.585000	0.79938	ACA		0.403	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
ADAMTS6	11174	broad.mit.edu	37	5	64522001	64522001	+	IGR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:64522001T>G								ADAMTS6 (27409 upstream) : ADAMTS6 (71033 downstream)														p.N660T(1)									AGTGTAGAAATTATAACCTTC	0.448																																					p.N660T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1979C	5						.						105.0	98.0	101.0					5																	64522001		2203	4300	6503	64557757	SO:0001628	intergenic_variant	11174	exon16																															5.37:g.64522001T>G		Somatic		Capture	Illumina HiSeq	Phase_I	64557757	NM_197941		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	T	15.33	2.802430	0.50315	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.04654	3.58;3.58	5.2	5.2	0.72013	.	0.139511	0.64402	D	0.000006	T	0.06600	0.0169	L	0.48935	1.535	0.80722	D	1	B;B	0.26744	0.158;0.078	B;B	0.30782	0.082;0.12	T	0.34030	-0.9845	10	0.13470	T	0.59	.	15.0583	0.71933	0.0:0.0:0.0:1.0	.	660;660	D6R9L6;Q9UKP5	.;ATS6_HUMAN	T	660;610;660	ENSP00000370443:N660T;ENSP00000423551:N660T	ENSP00000261306:N610T	N	-	2	0	ADAMTS6	64557757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.634000	0.83273	1.933000	0.56026	0.528000	0.53228	AAT	0	0.448								
CENPK	64105	broad.mit.edu	37	5	64817343	64817343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:64817343C>A	ENST00000396679.1	-	10	824	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CENPK_ENST00000242872.3_Nonsense_Mutation_p.E204*|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000510693.1_Nonsense_Mutation_p.E141*|CENPK_ENST00000508421.1_Nonsense_Mutation_p.E174*|CENPK_ENST00000514814.1_Nonsense_Mutation_p.E204*	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	204					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.E204*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		ACAGATGATTCTTGAATGTTT	0.313																																					p.E204X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G610T	5						.						165.0	126.0	139.0					5																	64817343		2202	4300	6502	64853099	SO:0001587	stop_gained	64105	exon10			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.610G>T	5.37:g.64817343C>A	ENSP00000379911:p.Glu204*	Somatic		Capture	Illumina HiSeq	Phase_I	64853099	NM_022145	Q9H4L0	Nonsense_Mutation	SNP	ENST00000396679.1	37	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601776	0.66445	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.28	4.39	0.52855	.	0.483091	0.25570	N	0.029780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-7.1091	14.5027	0.67732	0.0:0.9242:0.0:0.0757	.	.	.	.	X	204;204;204;174;141	.	ENSP00000242872:E204X	E	-	1	0	CENPK	64853099	1.000000	0.71417	0.999000	0.59377	0.262000	0.26303	1.962000	0.40442	2.608000	0.88229	0.655000	0.94253	GAA		0.313	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145	
PPWD1	23398	broad.mit.edu	37	5	64865547	64865547	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:64865547C>T	ENST00000261308.5	+	3	460	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	PPWD1_ENST00000535264.1_Missense_Mutation_p.R100C|PPWD1_ENST00000538977.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	130					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R130C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TAAACATTTTCGTAGTCACCT	0.289																																					p.R130C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	5						.						60.0	63.0	62.0					5																	64865547		2203	4295	6498	64901303	SO:0001583	missense	23398	exon3			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.388C>T	5.37:g.64865547C>T	ENSP00000261308:p.Arg130Cys	Somatic		Capture	Illumina HiSeq	Phase_I	64901303	NM_015342	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505914	0.85282	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000502703;ENST00000505380	T;T;T;T	0.67345	-0.12;-0.12;-0.26;-0.12	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.90050	0.4148	10	0.87932	D	0	.	19.0887	0.93217	0.0:1.0:0.0:0.0	.	100;130	F5H7P7;Q96BP3	.;PPWD1_HUMAN	C	130;100;34;49	ENSP00000261308:R130C;ENSP00000442371:R100C;ENSP00000427054:R34C;ENSP00000423234:R49C	ENSP00000261308:R130C	R	+	1	0	PPWD1	64901303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.845000	0.62853	2.605000	0.88082	0.655000	0.94253	CGT		0.289	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342	
ERBB2IP	55914	broad.mit.edu	37	5	65319204	65319204	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:65319204A>C	ENST00000284037.5	+	9	1061				ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000380943.2_Intron|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Intron|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTATATGAGATTTTAAAT	0.318																																					.												.	.	0			.	5						.						101.0	104.0	103.0					5																	65319204		2203	4300	6503	65354960	SO:0001627	intron_variant	55914	.				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.672+12A>C	5.37:g.65319204A>C		Somatic		Capture	Illumina HiSeq	Phase_I	65354960	.	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Intron	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																				0.318	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
ERBB2IP	55914	broad.mit.edu	37	5	65349250	65349250	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:65349250T>G	ENST00000284037.5	+	21	2493	c.2104T>G	c.(2104-2106)Ttt>Gtt	p.F702V	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.F702V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.F702V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.F702V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.F702V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.F702V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.F702V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.F702V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.F698V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	702					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.F702V(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGATGAAAATTTTAACAGCCT	0.259																																					p.F702V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2104G	5						.						42.0	51.0	48.0					5																	65349250		2177	4268	6445	65385006	SO:0001583	missense	55914	exon21				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2104T>G	5.37:g.65349250T>G	ENSP00000284037:p.Phe702Val	Somatic		Capture	Illumina HiSeq	Phase_I	65385006	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550448	0.27739	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.38560	1.33;1.33;1.33;1.53;1.13;1.41;1.32;1.36;1.13	5.04	5.04	0.67666	.	0.183881	0.51477	D	0.000090	T	0.29028	0.0721	N	0.22421	0.69	0.34022	D	0.652755	B;B;B;P;B;B;P	0.43662	0.317;0.212;0.212;0.722;0.278;0.035;0.814	B;B;B;B;B;B;B	0.36666	0.167;0.114;0.114;0.118;0.057;0.012;0.23	T	0.45571	-0.9252	10	0.39692	T	0.17	.	15.0675	0.72008	0.0:0.0:0.0:1.0	.	702;702;702;698;702;702;702	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	V	702;702;702;702;702;702;698;702;702	ENSP00000284037:F702V;ENSP00000370330:F702V;ENSP00000370326:F702V;ENSP00000370323:F702V;ENSP00000370322:F702V;ENSP00000370325:F702V;ENSP00000422766:F698V;ENSP00000426632:F702V;ENSP00000422015:F702V	ENSP00000284037:F702V	F	+	1	0	ERBB2IP	65385006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.059000	0.41384	2.015000	0.59207	0.482000	0.46254	TTT		0.259	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
ERBB2IP	55914	broad.mit.edu	37	5	65350520	65350520	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:65350520G>T	ENST00000284037.5	+	21	3763	c.3374G>T	c.(3373-3375)aGa>aTa	p.R1125I	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R1125I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R1121I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1125					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.R1125I(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGATCACAGAGACCCCTTTCT	0.468																																					p.R1125I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3374T	5						.						58.0	53.0	54.0					5																	65350520		2203	4300	6503	65386276	SO:0001583	missense	55914	exon21				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3374G>T	5.37:g.65350520G>T	ENSP00000284037:p.Arg1125Ile	Somatic		Capture	Illumina HiSeq	Phase_I	65386276	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.053836|4.053836	0.75960|0.75960	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000511671|ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.|T;T;T;T;T;T;T;T;T	.|0.78707	.|-0.78;-0.77;-0.73;-0.51;-1.2;-0.47;-0.76;-0.73;-1.2	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86727|0.86727	0.6002|0.6002	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.998;0.999;1.0;0.999	.|D;D;D;D;D;D;D	.|0.91635	.|0.999;0.997;0.997;0.996;0.994;0.999;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	19.943|19.943	0.97172|0.97172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1125;1125;1125;1121;1125;1125;1125	.|Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.|.;.;.;.;LAP2_HUMAN;.;.	D|I	20|1125;1125;1125;1125;1125;1125;1121;1125;1125	.|ENSP00000284037:R1125I;ENSP00000370330:R1125I;ENSP00000370326:R1125I;ENSP00000370323:R1125I;ENSP00000370322:R1125I;ENSP00000370325:R1125I;ENSP00000422766:R1121I;ENSP00000426632:R1125I;ENSP00000422015:R1125I	.|ENSP00000284037:R1125I	E|R	+|+	3|2	2|0	ERBB2IP|ERBB2IP	65386276|65386276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	9.121000|9.121000	0.94375|0.94375	2.722000|2.722000	0.93159|0.93159	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.468	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
CD180	4064	broad.mit.edu	37	5	66480120	66480120	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:66480120G>T	ENST00000256447.4	-	3	708	c.551C>A	c.(550-552)gCt>gAt	p.A184D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	184					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A184D(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTAGTGTATAGCATTATTCTG	0.418																																					p.A184D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551A	5						.						89.0	84.0	86.0					5																	66480120		2203	4300	6503	66515876	SO:0001583	missense	4064	exon3			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.551C>A	5.37:g.66480120G>T	ENSP00000256447:p.Ala184Asp	Somatic		Capture	Illumina HiSeq	Phase_I	66515876	NM_005582	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639532	0.29157	.	.	ENSG00000134061	ENST00000256447	T	0.79653	-1.29	5.92	5.06	0.68205	.	0.437392	0.23215	N	0.050631	T	0.74427	0.3715	M	0.72479	2.2	0.31042	N	0.716239	D	0.55800	0.973	B	0.42692	0.395	T	0.71381	-0.4610	10	0.12103	T	0.63	.	5.4309	0.16452	0.0751:0.1169:0.6335:0.1746	.	184	Q99467	CD180_HUMAN	D	184	ENSP00000256447:A184D	ENSP00000256447:A184D	A	-	2	0	CD180	66515876	0.988000	0.35896	0.991000	0.47740	0.829000	0.46940	0.957000	0.29215	1.521000	0.48983	0.655000	0.94253	GCT		0.418	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
CD180	4064	broad.mit.edu	37	5	66481746	66481746	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:66481746A>T	ENST00000256447.4	-	2	347	c.190T>A	c.(190-192)Ttt>Att	p.F64I		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	64					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F64I(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTAGGCAAAAAATTAAAGCTG	0.333																																					p.F64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T190A	5						.						83.0	87.0	86.0					5																	66481746		2203	4300	6503	66517502	SO:0001583	missense	4064	exon2			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.190T>A	5.37:g.66481746A>T	ENSP00000256447:p.Phe64Ile	Somatic		Capture	Illumina HiSeq	Phase_I	66517502	NM_005582	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635192	0.47049	.	.	ENSG00000134061	ENST00000256447	T	0.79749	-1.3	5.67	3.03	0.35002	.	0.401526	0.23208	N	0.050716	T	0.69324	0.3098	M	0.66939	2.045	0.23831	N	0.996724	P	0.38370	0.628	B	0.22753	0.041	T	0.57499	-0.7801	10	0.22706	T	0.39	.	7.6375	0.28274	0.5194:0.362:0.0:0.1186	.	64	Q99467	CD180_HUMAN	I	64	ENSP00000256447:F64I	ENSP00000256447:F64I	F	-	1	0	CD180	66517502	0.986000	0.35501	1.000000	0.80357	0.934000	0.57294	1.349000	0.33998	0.879000	0.35944	0.533000	0.62120	TTT		0.333	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
PIK3R1	5295	broad.mit.edu	37	5	67588951	67588951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:67588951C>T	ENST00000521381.1	+	9	1658	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R48*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R78*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	348	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R348*(7)|p.R48*(1)|p.R78*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAAAAACTTCGAGATACAGC	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.R348X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	11	Substitution - Nonsense(9)|Whole gene deletion(1)|Unknown(1)	large_intestine(5)|endometrium(5)|lung(1)	c.C1042T	5						.						84.0	86.0	85.0					5																	67588951		2203	4300	6503	67624707	SO:0001587	stop_gained	5295	exon8			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1042C>T	5.37:g.67588951C>T	ENSP00000428056:p.Arg348*	Somatic		Capture	Illumina HiSeq	Phase_I	67624707	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.145650	0.97324	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	.	.	.	5.02	5.02	0.67125	.	0.118259	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6425	18.8724	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;348;348;78;78;48;78;21	.	ENSP00000274335:R348X	R	+	1	2	PIK3R1	67624707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.939000	0.48995	2.770000	0.95276	0.484000	0.47621	CGA		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
CCDC125	202243	broad.mit.edu	37	5	68578615	68578615	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:68578615C>A	ENST00000396496.2	-	12	1584	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y	CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000511257.1_Missense_Mutation_p.D368Y|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.D493Y			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	493						cytoplasm (GO:0005737)		p.D493Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TAGTTTGGATCTATTTGAGAG	0.348																																					p.D493Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477T	5						.						94.0	99.0	97.0					5																	68578615		2202	4300	6502	68614371	SO:0001583	missense	202243	exon11			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1477G>T	5.37:g.68578615C>A	ENSP00000379754:p.Asp493Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	68614371	NM_176816	Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571008	0.45798	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T	0.52526	0.66;0.66	5.15	4.27	0.50696	.	0.529394	0.18516	N	0.138911	T	0.49830	0.1580	L	0.51422	1.61	0.09310	N	0.999998	P	0.52061	0.95	P	0.51355	0.667	T	0.41342	-0.9514	10	0.54805	T	0.06	-4.1301	8.5351	0.33357	0.1748:0.6565:0.1686:0.0	.	493	Q86Z20	CC125_HUMAN	Y	493;493;368	ENSP00000379754:D493Y;ENSP00000379756:D493Y	ENSP00000379754:D493Y	D	-	1	0	CCDC125	68614371	0.000000	0.05858	0.196000	0.23383	0.087000	0.18053	-0.050000	0.11904	1.379000	0.46325	-0.181000	0.13052	GAT		0.348	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816	
CCDC125	202243	broad.mit.edu	37	5	68616293	68616293	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:68616293T>G	ENST00000396496.2	-	2	182	c.75A>C	c.(73-75)gaA>gaC	p.E25D	CCDC125_ENST00000383374.2_Missense_Mutation_p.E25D|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.E25D			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	25						cytoplasm (GO:0005737)		p.E25D(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTAAATCACCTTCTGTCATGT	0.433																																					p.E25D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A75C	5						.						132.0	127.0	129.0					5																	68616293		2203	4300	6503	68652049	SO:0001583	missense	202243	exon1			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.75A>C	5.37:g.68616293T>G	ENSP00000379754:p.Glu25Asp	Somatic		Capture	Illumina HiSeq	Phase_I	68652049	NM_176816	Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	t	6.493	0.459103	0.12342	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.47177	0.86;0.86;0.85	4.92	-1.84	0.07809	.	0.540708	0.17623	N	0.167671	T	0.27594	0.0678	L	0.41027	1.25	0.23933	N	0.996421	B;B	0.20052	0.041;0.006	B;B	0.20184	0.028;0.016	T	0.21143	-1.0254	10	0.09843	T	0.71	.	4.4798	0.11762	0.5562:0.0984:0.0:0.3454	.	25;25	F8W912;Q86Z20	.;CC125_HUMAN	D	25	ENSP00000379754:E25D;ENSP00000379756:E25D;ENSP00000372865:E25D	ENSP00000372865:E25D	E	-	3	2	CCDC125	68652049	0.999000	0.42202	0.990000	0.47175	0.906000	0.53458	0.694000	0.25512	-0.013000	0.14199	0.375000	0.23000	GAA		0.433	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816	
RAD17	5884	broad.mit.edu	37	5	68682026	68682026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:68682026C>T	ENST00000509734.1	+	9	1429	c.751C>T	c.(751-753)Cga>Tga	p.R251*	RAD17_ENST00000345306.6_Nonsense_Mutation_p.R240*|RAD17_ENST00000521422.1_Nonsense_Mutation_p.R75*|RAD17_ENST00000380774.3_Nonsense_Mutation_p.R251*|RAD17_ENST00000361732.2_Nonsense_Mutation_p.R240*|RAD17_ENST00000354868.5_Nonsense_Mutation_p.R240*|RAD17_ENST00000354312.3_Nonsense_Mutation_p.R240*|RAD17_ENST00000282891.6_Nonsense_Mutation_p.R154*|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Nonsense_Mutation_p.R75*|RAD17_ENST00000305138.4_Nonsense_Mutation_p.R240*			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	251					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R240*(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGGATTGGTCGATGTCCTCT	0.328								Other conserved DNA damage response genes																													p.R240X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C718T	5						.						82.0	90.0	87.0					5																	68682026		2203	4294	6497	68717782	SO:0001587	stop_gained	5884	exon8			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.751C>T	5.37:g.68682026C>T	ENSP00000426191:p.Arg251*	Somatic		Capture	Illumina HiSeq	Phase_I	68717782	NM_133344	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Nonsense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	44	10.971762	0.99497	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0367	13.4131	0.60954	0.1579:0.8421:0.0:0.0	.	.	.	.	X	240;251;240;75;240;240;240;154;75;251	.	ENSP00000282891:R154X	R	+	1	2	RAD17	68717782	0.996000	0.38824	0.785000	0.31869	0.943000	0.58893	2.648000	0.46647	2.555000	0.86185	0.585000	0.79938	CGA		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344	
RAD17	5884	broad.mit.edu	37	5	68687850	68687850	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:68687850T>G	ENST00000509734.1	+	12	1900				RAD17_ENST00000354312.3_Intron|RAD17_ENST00000380774.3_Intron|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Intron|RAD17_ENST00000361732.2_Intron|RAD17_ENST00000358030.2_Intron|RAD17_ENST00000345306.6_Intron|RAD17_ENST00000521422.1_Intron|RAD17_ENST00000354868.5_Intron|RAD17_ENST00000282891.6_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.?(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTAAGAAATTTTTACACTTT	0.299								Other conserved DNA damage response genes																													.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						31.0	37.0	35.0					5																	68687850		2181	4293	6474	68723606	SO:0001627	intron_variant	5884	.			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1222+10T>G	5.37:g.68687850T>G		Somatic		Capture	Illumina HiSeq	Phase_I	68723606	.	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Intron	SNP	ENST00000509734.1	37	CCDS4003.1																																																																																				0.299	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344	
Unknown	0	broad.mit.edu	37	5	70370085	70370085	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70370085C>A								GTF2H2 (6606 upstream) : snoU13 (14373 downstream)																							CTCCAACCATCTTCTTGATGT	0.353																																					.												.	.	0			.	5						.						100.0	81.0	87.0					5																	70370085		809	1561	2370	70405841	SO:0001628	intergenic_variant	4950	.																															5.37:g.70370085C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70405841	.		Missense_Mutation	SNP		37																																																																																				0	0.353								
BDP1	55814	broad.mit.edu	37	5	70798585	70798585	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70798585G>A	ENST00000358731.4	+	15	2471	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	736					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E736E(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCAATGTAGAGAAGAATGAAA	0.403																																					p.E736E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2208A	5						.						86.0	81.0	83.0					5																	70798585		1890	4113	6003	70834341	SO:0001819	synonymous_variant	55814	exon15			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2208G>A	5.37:g.70798585G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70834341	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.403	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70805860	70805860	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70805860G>T	ENST00000358731.4	+	17	3204	c.2941G>T	c.(2941-2943)Gac>Tac	p.D981Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	981	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D981Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGAGGAAATAGACAAAAATTT	0.448																																					p.D981Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2941T	5						.						68.0	70.0	69.0					5																	70805860		1823	4072	5895	70841616	SO:0001583	missense	55814	exon17			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2941G>T	5.37:g.70805860G>T	ENSP00000351575:p.Asp981Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70841616	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051913	0.36181	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.22336	1.96	3.96	2.1	0.27182	.	3.923910	0.01251	U	0.008898	T	0.25494	0.0620	L	0.39898	1.24	0.09310	N	0.999997	P;P;P	0.49447	0.924;0.868;0.924	P;B;P	0.47981	0.563;0.397;0.563	T	0.10428	-1.0630	10	0.62326	D	0.03	.	4.6318	0.12506	0.1147:0.0:0.6598:0.2255	.	981;981;981	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	981;561	ENSP00000351575:D981Y	ENSP00000351575:D981Y	D	+	1	0	BDP1	70841616	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.443000	0.06862	0.592000	0.29728	0.305000	0.20034	GAC		0.448	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70806514	70806514	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70806514G>T	ENST00000358731.4	+	17	3858	c.3595G>T	c.(3595-3597)Gat>Tat	p.D1199Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1199	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D1199Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATAGAGACAGATTTGGAAGA	0.428																																					p.D1199Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3595T	5						.						101.0	100.0	100.0					5																	70806514		1891	4123	6014	70842270	SO:0001583	missense	55814	exon17			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3595G>T	5.37:g.70806514G>T	ENSP00000351575:p.Asp1199Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70842270	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800332	0.16397	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.22336	1.96	3.36	-1.89	0.07689	.	2.649960	0.01695	N	0.026862	T	0.11836	0.0288	L	0.34521	1.04	0.19775	N	0.999959	B;P;B	0.39883	0.037;0.693;0.437	B;B;B	0.36186	0.012;0.219;0.132	T	0.11060	-1.0603	10	0.10377	T	0.69	.	0.4634	0.00520	0.2123:0.1617:0.2962:0.3297	.	1199;1199;1199	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	1199;779	ENSP00000351575:D1199Y	ENSP00000351575:D1199Y	D	+	1	0	BDP1	70842270	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.310000	0.08135	-0.461000	0.06993	0.313000	0.20887	GAT		0.428	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70818667	70818667	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70818667G>T	ENST00000358731.4	+	24	5541	c.5278G>T	c.(5278-5280)Gat>Tat	p.D1760Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1760					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D1760Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGCAAAAATAGATGCGGAATT	0.383																																					p.D1760Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5278T	5						.						92.0	91.0	91.0					5																	70818667		1820	4081	5901	70854423	SO:0001583	missense	55814	exon24			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5278G>T	5.37:g.70818667G>T	ENSP00000351575:p.Asp1760Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70854423	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	7.014	0.557433	0.13436	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.18174	2.23	5.81	-1.18	0.09617	.	0.756283	0.12132	N	0.496701	T	0.10508	0.0257	L	0.40543	1.245	0.09310	N	0.999999	P;P	0.42456	0.587;0.78	B;B	0.36959	0.146;0.237	T	0.18681	-1.0329	10	0.87932	D	0	.	2.5301	0.04701	0.1485:0.1086:0.3826:0.3603	.	1760;1760	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Y	1760;1340	ENSP00000351575:D1760Y	ENSP00000351575:D1760Y	D	+	1	0	BDP1	70854423	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.278000	0.18753	-0.116000	0.11893	-1.713000	0.00713	GAT		0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
MCCC2	64087	broad.mit.edu	37	5	70900172	70900172	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:70900172C>A	ENST00000340941.6	+	6	640				MCCC2_ENST00000509358.2_Intron|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000510895.2_Intron	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTTCTCATTTCTTGTCTTCAG	0.393																																					.												.	.	0			.	5						.						135.0	114.0	121.0					5																	70900172		2203	4300	6503	70935928	SO:0001627	intron_variant	64087	.			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.512-11C>A	5.37:g.70900172C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70935928	.	A6NIY9|Q96C27|Q9Y4L7	Intron	SNP	ENST00000340941.6	37	CCDS34184.1																																																																																				0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		
MAP1B	4131	broad.mit.edu	37	5	71482516	71482516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71482516G>T	ENST00000296755.7	+	4	743	c.445G>T	c.(445-447)Gag>Tag	p.E149*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	149					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E149*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATACCGGAGAGCTCATTCT	0.488																																					p.E149X	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G445T	5						.						112.0	111.0	111.0					5																	71482516		2203	4300	6503	71518272	SO:0001587	stop_gained	4131	exon4			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.445G>T	5.37:g.71482516G>T	ENSP00000296755:p.Glu149*	Somatic		Capture	Illumina HiSeq	Phase_I	71518272	NM_005909	A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	37	6.375356	0.97515	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.6152	19.8968	0.96969	0.0:0.0:1.0:0.0	.	.	.	.	X	149;149;23	.	ENSP00000296755:E149X	E	+	1	0	MAP1B	71518272	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	9.722000	0.98770	2.691000	0.91804	0.655000	0.94253	GAG		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71490728	71490728	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71490728G>A	ENST00000296755.7	+	5	1844	c.1546G>A	c.(1546-1548)Gcc>Acc	p.A516T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	516					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.A516T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGCCACTGGCCACCCAAAA	0.512																																					p.A516T	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1546A	5						.						36.0	38.0	38.0					5																	71490728		2202	4299	6501	71526484	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1546G>A	5.37:g.71490728G>A	ENSP00000296755:p.Ala516Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71526484	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324799	0.41197	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.22134	1.97;1.97;1.97	5.63	5.63	0.86233	.	0.107179	0.40818	N	0.001009	T	0.17280	0.0415	L	0.38175	1.15	0.41536	D	0.988485	B;B	0.30741	0.293;0.189	B;B	0.22386	0.039;0.039	T	0.02560	-1.1141	10	0.62326	D	0.03	-18.9175	12.9563	0.58430	0.0737:0.0:0.9263:0.0	.	390;516	A2BDK6;P46821	.;MAP1B_HUMAN	T	516;533;390	ENSP00000296755:A516T;ENSP00000423444:A533T;ENSP00000423416:A390T	ENSP00000296755:A516T	A	+	1	0	MAP1B	71526484	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.611000	0.61162	2.644000	0.89710	0.563000	0.77884	GCC		0.512	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71491721	71491721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71491721G>T	ENST00000296755.7	+	5	2837	c.2539G>T	c.(2539-2541)Gag>Tag	p.E847*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	847					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E847*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGGCTGAAGAGGTCGATGT	0.478																																					p.E847X	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2539T	5						.						120.0	118.0	119.0					5																	71491721		2203	4300	6503	71527477	SO:0001587	stop_gained	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2539G>T	5.37:g.71491721G>T	ENSP00000296755:p.Glu847*	Somatic		Capture	Illumina HiSeq	Phase_I	71527477	NM_005909	A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	42	9.419248	0.99166	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.8443	19.4736	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	X	847	.	ENSP00000296755:E847X	E	+	1	0	MAP1B	71527477	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.235000	0.78143	2.596000	0.87737	0.591000	0.81541	GAG		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71493887	71493887	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71493887G>A	ENST00000296755.7	+	5	5003	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1569					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.D1569N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AACAACAGATGATGTGTCTCC	0.517																																					p.D1569N	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4705A	5						.						119.0	97.0	105.0					5																	71493887		2203	4300	6503	71529643	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4705G>A	5.37:g.71493887G>A	ENSP00000296755:p.Asp1569Asn	Somatic		Capture	Illumina HiSeq	Phase_I	71529643	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058694	0.55325	.	.	ENSG00000131711	ENST00000296755	T	0.03358	3.96	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000004	T	0.10809	0.0264	L	0.27053	0.805	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.12243	-1.0555	10	0.66056	D	0.02	-23.4903	18.7095	0.91651	0.0:0.0:1.0:0.0	.	1443;1569	A2BDK6;P46821	.;MAP1B_HUMAN	N	1569	ENSP00000296755:D1569N	ENSP00000296755:D1569N	D	+	1	0	MAP1B	71529643	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.241000	0.89816	2.435000	0.82474	0.313000	0.20887	GAT		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71495280	71495280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71495280G>A	ENST00000296755.7	+	5	6396	c.6098G>A	c.(6097-6099)cGa>cAa	p.R2033Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2033					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R2033Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACAACACGAACCCCTGAT	0.448																																					p.R2033Q	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6098A	5						.						116.0	128.0	124.0					5																	71495280		2203	4300	6503	71531036	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6098G>A	5.37:g.71495280G>A	ENSP00000296755:p.Arg2033Gln	Somatic		Capture	Illumina HiSeq	Phase_I	71531036	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025153	0.08054	.	.	ENSG00000131711	ENST00000296755	T	0.02890	4.12	5.57	2.25	0.28309	.	0.465133	0.18013	N	0.154481	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.04013	0.001;0.001	T	0.49409	-0.8943	10	0.17832	T	0.49	-0.2481	7.0415	0.25023	0.507:0.0:0.493:0.0	.	1907;2033	A2BDK6;P46821	.;MAP1B_HUMAN	Q	2033	ENSP00000296755:R2033Q	ENSP00000296755:R2033Q	R	+	2	0	MAP1B	71531036	0.000000	0.05858	0.014000	0.15608	0.152000	0.21847	0.509000	0.22707	0.662000	0.31006	0.643000	0.83706	CGA		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MRPS27	23107	broad.mit.edu	37	5	71609979	71609979	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71609979C>A	ENST00000261413.5	-	2	119	c.80G>T	c.(79-81)aGa>aTa	p.R27I	MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000522095.1_Missense_Mutation_p.R27I|MRPS27_ENST00000457646.4_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.R27I|RN7SL153P_ENST00000486501.2_RNA	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	27						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.R27I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AAGCAGGTATCTTTTACCTGA	0.328																																					p.R27I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80T	5						.						142.0	119.0	127.0					5																	71609979		2203	4299	6502	71645735	SO:0001583	missense	23107	exon2			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.80G>T	5.37:g.71609979C>A	ENSP00000261413:p.Arg27Ile	Somatic		Capture	Illumina HiSeq	Phase_I	71645735	NM_015084	B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459761	0.84317	.	.	ENSG00000113048	ENST00000261413;ENST00000513900;ENST00000522095	T;T;T	0.72167	-0.63;-0.63;-0.63	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.84314	0.0512	10	0.72032	D	0.01	-13.0937	15.4018	0.74845	0.0:1.0:0.0:0.0	.	27;27	B4DRT2;Q92552	.;RT27_HUMAN	I	27	ENSP00000261413:R27I;ENSP00000426941:R27I;ENSP00000430590:R27I	ENSP00000261413:R27I	R	-	2	0	MRPS27	71645735	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.748000	0.55142	2.707000	0.92482	0.561000	0.74099	AGA		0.328	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084	
PTCD2	79810	broad.mit.edu	37	5	71616258	71616258	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:71616258C>A	ENST00000380639.5	+	1	65	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	MRPS27_ENST00000515404.1_5'Flank|PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000543322.1_Missense_Mutation_p.L17I|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000503868.1_Missense_Mutation_p.L17I	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	17					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.L17I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAATCGAGTTCTCCTGCAGGC	0.627																																					p.L17I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	5						.						50.0	57.0	54.0					5																	71616258		2132	4259	6391	71652014	SO:0001583	missense	79810	exon1			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.49C>A	5.37:g.71616258C>A	ENSP00000370013:p.Leu17Ile	Somatic		Capture	Illumina HiSeq	Phase_I	71652014	NM_024754	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125184	0.37533	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.03	0.0446	0.14226	.	0.823703	0.10638	N	0.651393	T	0.17789	0.0427	L	0.29908	0.895	0.20638	N	0.999871	P;P	0.40180	0.705;0.58	B;B	0.34385	0.181;0.061	T	0.13229	-1.0517	9	0.87932	D	0	.	4.6855	0.12755	0.0:0.4432:0.2985:0.2584	.	17;17	E9PFV7;Q8WV60	.;PTCD2_HUMAN	I	17	.	ENSP00000308948:L17I	L	+	1	0	PTCD2	71652014	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.566000	0.05922	-0.190000	0.10465	0.561000	0.74099	CTC		0.627	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
TNPO1	3842	broad.mit.edu	37	5	72185728	72185728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72185728C>A	ENST00000337273.5	+	14	2071	c.1645C>A	c.(1645-1647)Ctt>Att	p.L549I	TNPO1_ENST00000523768.1_Missense_Mutation_p.L499I|TNPO1_ENST00000454282.1_Missense_Mutation_p.L499I|TNPO1_ENST00000506351.2_Missense_Mutation_p.L541I	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	549					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.L541I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CCTGCTCATTCTTTACGATGC	0.363																																					p.L541I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1621A	5						.						112.0	106.0	108.0					5																	72185728		2203	4300	6503	72221484	SO:0001583	missense	3842	exon14			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1645C>A	5.37:g.72185728C>A	ENSP00000336712:p.Leu549Ile	Somatic		Capture	Illumina HiSeq	Phase_I	72221484	NM_153188	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838025	0.91117	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.93241	3.395	0.80722	D	1	D;P	0.60160	0.987;0.911	D;D	0.68943	0.961;0.919	D	0.89966	0.4090	10	0.87932	D	0	-13.3601	19.0553	0.93062	0.0:1.0:0.0:0.0	.	499;549	Q92973-3;Q92973	.;TNPO1_HUMAN	I	549;499;499;541;60	ENSP00000336712:L549I;ENSP00000398524:L499I;ENSP00000428899:L499I;ENSP00000425118:L541I	ENSP00000336712:L549I	L	+	1	0	TNPO1	72221484	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.442000	0.80503	2.588000	0.87417	0.650000	0.86243	CTT		0.363	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
TNPO1	3842	broad.mit.edu	37	5	72195822	72195822	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72195822C>T	ENST00000337273.5	+	21	2764				TNPO1_ENST00000523768.1_Intron|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000506351.2_Intron	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACCGTGATTGCGTTACCTTAG	0.413																																					.												.	.	0			.	5						.						249.0	198.0	215.0					5																	72195822		2203	4300	6503	72231578	SO:0001627	intron_variant	3842	.			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2339-11C>T	5.37:g.72195822C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72231578	.	B4DVC6|Q92957|Q92975	Intron	SNP	ENST00000337273.5	37	CCDS43329.1																																																																																				0.413	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
FCHO2	115548	broad.mit.edu	37	5	72286423	72286423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72286423G>T	ENST00000430046.2	+	4	435	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	FCHO2_ENST00000341845.6_Nonsense_Mutation_p.E107*|FCHO2_ENST00000512348.1_Nonsense_Mutation_p.E107*|FCHO2_ENST00000287761.6_Nonsense_Mutation_p.E107*	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	107	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E107*(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTATGGAGAAGAACAAGTAAA	0.284																																					p.E107X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G319T	5						.						34.0	33.0	33.0					5																	72286423		1783	4033	5816	72322179	SO:0001587	stop_gained	115548	exon4			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.319G>T	5.37:g.72286423G>T	ENSP00000393776:p.Glu107*	Somatic		Capture	Illumina HiSeq	Phase_I	72322179	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Nonsense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.232612|5.232612	0.95207|0.95207	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761|ENST00000507345	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.150342|.	0.64402|.	D|.	0.000014|.	.|T	.|0.75155	.|0.3811	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72268	.|-0.4343	.|3	0.29301|.	T|.	0.29|.	-23.463|-23.463	18.4761|18.4761	0.90793|0.90793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	107|76	.|.	ENSP00000287761:E107X|.	E|K	+|+	1|3	0|2	FCHO2|FCHO2	72322179|72322179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.225000|9.225000	0.95219|0.95219	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.284	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
FCHO2	115548	broad.mit.edu	37	5	72313048	72313048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72313048G>T	ENST00000430046.2	+	8	825	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	FCHO2_ENST00000341845.6_Nonsense_Mutation_p.E237*|FCHO2_ENST00000512348.1_Nonsense_Mutation_p.E204*|FCHO2_ENST00000287761.6_Nonsense_Mutation_p.E237*	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	237	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E237*(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGTCCATGAAGAATTTATAAA	0.274																																					p.E237X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G709T	5						.						18.0	18.0	18.0					5																	72313048		1776	4031	5807	72348804	SO:0001587	stop_gained	115548	exon8			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.709G>T	5.37:g.72313048G>T	ENSP00000393776:p.Glu237*	Somatic		Capture	Illumina HiSeq	Phase_I	72348804	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Nonsense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085551|4.085551	0.76642|0.76642	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761|ENST00000507345	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.045576|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76285	.|0.3966	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74987	.|-0.3476	.|3	0.23302|.	T|.	0.38|.	-23.0323|-23.0323	19.3434|19.3434	0.94355|0.94355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	237;237;204;237|206	.|.	ENSP00000287761:E237X|.	E|K	+|+	1|3	0|2	FCHO2|FCHO2	72348804|72348804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.854000|7.854000	0.86942|0.86942	2.566000|2.566000	0.86566|0.86566	0.585000|0.585000	0.79938|0.79938	GAA|AAG		0.274	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
FCHO2	115548	broad.mit.edu	37	5	72377614	72377614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72377614C>A	ENST00000430046.2	+	23	2101	c.1985C>A	c.(1984-1986)tCa>tAa	p.S662*	FCHO2_ENST00000341845.6_Nonsense_Mutation_p.S662*|FCHO2_ENST00000512348.1_Nonsense_Mutation_p.S629*	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	662	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S662*(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTAAAGGTATCATCAAATGGT	0.353																																					p.S662X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1985A	5						.						90.0	82.0	85.0					5																	72377614		1844	4103	5947	72413370	SO:0001587	stop_gained	115548	exon23			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1985C>A	5.37:g.72377614C>A	ENSP00000393776:p.Ser662*	Somatic		Capture	Illumina HiSeq	Phase_I	72413370	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Nonsense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	36	5.631165	0.96682	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	.	.	.	5.65	5.65	0.86999	.	0.278748	0.34531	N	0.003886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.623	13.1248	0.59349	0.0:0.9278:0.0:0.0721	.	.	.	.	X	662;662;629	.	ENSP00000344034:S662X	S	+	2	0	FCHO2	72413370	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	2.200000	0.42724	2.941000	0.99782	0.655000	0.94253	TCA		0.353	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
ANKRA2	57763	broad.mit.edu	37	5	72856980	72856980	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72856980G>T	ENST00000296785.3	-	3	1081	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	141						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)	p.V141V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GTGTGGTAGAGACCTCATTTC	0.348																																					p.V141V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423A	5						.						319.0	286.0	297.0					5																	72856980		2203	4300	6503	72892736	SO:0001819	synonymous_variant	57763	exon3			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.423C>A	5.37:g.72856980G>T		Somatic		Capture	Illumina HiSeq	Phase_I	72892736	NM_023039		Silent	SNP	ENST00000296785.3	37	CCDS4020.1																																																																																				0.348	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	
UTP15	84135	broad.mit.edu	37	5	72863199	72863199	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:72863199G>T	ENST00000296792.4	+	2	285	c.30G>T	c.(28-30)caG>caT	p.Q10H	UTP15_ENST00000508491.1_Missense_Mutation_p.Q10H|ANKRA2_ENST00000296785.3_5'Flank|UTP15_ENST00000543251.1_Intron	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	10					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.Q10H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGCTATTCAGACATATCCTA	0.368																																					p.Q10H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G30T	5						.						125.0	130.0	128.0					5																	72863199		2203	4300	6503	72898955	SO:0001583	missense	84135	exon2			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.30G>T	5.37:g.72863199G>T	ENSP00000296792:p.Gln10His	Somatic		Capture	Illumina HiSeq	Phase_I	72898955	NM_032175	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526583	0.27299	.	.	ENSG00000164338	ENST00000513824;ENST00000296792;ENST00000508491	T;T	0.57273	0.47;0.41	4.96	1.12	0.20585	.	0.252463	0.40144	N	0.001170	T	0.35856	0.0946	L	0.36672	1.1	0.54753	D	0.999989	P;P	0.51653	0.947;0.947	B;B	0.40741	0.339;0.339	T	0.07328	-1.0778	10	0.46703	T	0.11	.	5.8275	0.18562	0.3664:0.1254:0.5082:0.0	.	10;10	B4DXK8;Q8TED0	.;UTP15_HUMAN	H	10	ENSP00000296792:Q10H;ENSP00000424609:Q10H	ENSP00000296792:Q10H	Q	+	3	2	UTP15	72898955	0.875000	0.30112	0.989000	0.46669	0.994000	0.84299	0.505000	0.22642	-0.013000	0.14199	0.563000	0.77884	CAG		0.368	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
ARHGEF28	64283	broad.mit.edu	37	5	73128155	73128155	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73128155T>C	ENST00000426542.2	+	9	1044				ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000296799.4_Intron|ARHGEF28_ENST00000296794.6_Intron|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000545377.1_Intron			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28						central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.?(2)									TTCATTTTTGTACTCTAGATC	0.413																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	5						.						93.0	80.0	84.0					5																	73128155		1831	4089	5920	73163911	SO:0001627	intron_variant	64283	.				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1025-8T>C	5.37:g.73128155T>C		Somatic		Capture	Illumina HiSeq	Phase_I	73163911	.	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Intron	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.413	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73154029	73154029	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73154029T>C	ENST00000426542.2	+	15	2052	c.2032T>C	c.(2032-2034)Tca>Cca	p.S678P	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S678P|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S678P|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S365P|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S678P|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S678P|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S678P			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	678					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.S678P(1)									GGGGAAAGAGTCACTGCAGTG	0.438																																					p.S678P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2032C	5						.						213.0	209.0	210.0					5																	73154029		1902	4133	6035	73189785	SO:0001583	missense	64283	exon16				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2032T>C	5.37:g.73154029T>C	ENSP00000412175:p.Ser678Pro	Somatic		Capture	Illumina HiSeq	Phase_I	73189785	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020591	0.54576	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.35	4.17	0.49024	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.94624	0.8267	M	0.62723	1.935	0.27125	N	0.96204	D;D;D;D	0.76494	0.998;0.999;0.997;0.997	D;D;D;D	0.74023	0.962;0.982;0.968;0.947	D	0.88314	0.2958	9	0.59425	D	0.04	.	11.2836	0.49210	0.137:0.0:0.0:0.863	.	365;678;678;678	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	P	678;678;678;678;678;678;365	ENSP00000296794:S678P;ENSP00000441913:S678P;ENSP00000441436:S678P;ENSP00000287898:S678P;ENSP00000411459:S678P;ENSP00000412175:S678P;ENSP00000296799:S365P	ENSP00000287898:S678P	S	+	1	0	RP11-428C6.1	73189785	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	2.268000	0.43338	0.858000	0.35431	-0.490000	0.04691	TCA		0.438	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73169076	73169076	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73169076G>T	ENST00000426542.2	+	21	2834				ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000296799.4_Intron|ARHGEF28_ENST00000296794.6_Intron|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000545377.1_Intron			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28						central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.?(1)									CAACAGGTAAGAAGAGCTTAA	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						39.0	38.0	38.0					5																	73169076		1872	4108	5980	73204832	SO:0001627	intron_variant	64283	.				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2814+5G>T	5.37:g.73169076G>T		Somatic		Capture	Illumina HiSeq	Phase_I	73204832	.	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Intron	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.383	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73181725	73181725	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73181725G>T	ENST00000426542.2	+	24	3126	c.3106G>T	c.(3106-3108)Gac>Tac	p.D1036Y	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D1036Y|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D1036Y|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D723Y|ARHGEF28_ENST00000512883.1_5'Flank|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D1036Y|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D1036Y|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.D1036Y			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1036	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.D1036Y(1)									CTTAATTAAAGACATGATTGC	0.323																																					p.D1036Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3106T	5						.						55.0	54.0	54.0					5																	73181725		1833	4086	5919	73217481	SO:0001583	missense	64283	exon25				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3106G>T	5.37:g.73181725G>T	ENSP00000412175:p.Asp1036Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73217481	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122997	0.77436	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.92	5.04	0.67666	Dbl homology (DH) domain (5);	.	.	.	.	T	0.76521	0.3999	L	0.60067	1.865	0.43902	D	0.996533	D;D;D;D	0.89917	1.0;0.998;0.983;0.978	D;D;D;D	0.91635	0.999;0.985;0.963;0.938	T	0.78964	-0.1996	9	0.66056	D	0.02	.	16.3662	0.83325	0.0:0.0:0.8669:0.1331	.	723;1036;1036;1036	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	Y	1036;1036;1036;1036;1036;1036;723	ENSP00000296794:D1036Y;ENSP00000441913:D1036Y;ENSP00000441436:D1036Y;ENSP00000287898:D1036Y;ENSP00000411459:D1036Y;ENSP00000412175:D1036Y;ENSP00000296799:D723Y	ENSP00000287898:D1036Y	D	+	1	0	RP11-428C6.1	73217481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.603000	0.82811	1.472000	0.48140	0.655000	0.94253	GAC		0.323	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73200062	73200062	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73200062T>G	ENST00000426542.2	+	31	4110	c.4090T>G	c.(4090-4092)Ttt>Gtt	p.F1364V	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F1364V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F1364V|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F1051V|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.F284V|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F1364V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F1320V|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.F1364V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1364					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.F1364V(1)|p.F284V(1)									ATGTAGAAATTTTCCAGGTTC	0.363																																					p.F1364V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4090G	5						.						181.0	168.0	172.0					5																	73200062		1835	4087	5922	73235818	SO:0001583	missense	64283	exon32				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4090T>G	5.37:g.73200062T>G	ENSP00000412175:p.Phe1364Val	Somatic		Capture	Illumina HiSeq	Phase_I	73235818	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	9.426	1.084405	0.20309	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.86	0.572	0.17357	.	0.288824	0.18126	U	0.150897	T	0.16428	0.0395	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B	0.25772	0.007;0.001;0.002;0.134;0.001	B;B;B;B;B	0.19946	0.005;0.007;0.007;0.027;0.002	T	0.25467	-1.0131	10	0.17832	T	0.49	.	3.9416	0.09329	0.2626:0.1416:0.0:0.5958	.	1051;1364;1364;284;1364	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	V	1364;1364;1364;1320;1364;1364;1051;284	ENSP00000296794:F1364V;ENSP00000441913:F1364V;ENSP00000441436:F1364V;ENSP00000287898:F1320V;ENSP00000411459:F1364V;ENSP00000412175:F1364V;ENSP00000296799:F1051V;ENSP00000421081:F284V	ENSP00000287898:F1320V	F	+	1	0	RP11-428C6.1	73235818	0.002000	0.14202	0.182000	0.23118	0.952000	0.60782	0.527000	0.22987	0.144000	0.18951	-0.301000	0.09380	TTT		0.363	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73207412	73207412	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73207412T>G	ENST00000426542.2	+	34	4968				ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000296799.4_Intron|ARHGEF28_ENST00000512883.1_Intron|ARHGEF28_ENST00000296794.6_3'UTR|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000545377.1_Intron			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28						central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TAATTAACACTTTAAACATCA	0.418																																					.												.	.	0			.	5						.						21.0	21.0	21.0					5																	73207412		2019	4169	6188	73243168	SO:0001627	intron_variant	64283	.				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4948+12T>G	5.37:g.73207412T>G		Somatic		Capture	Illumina HiSeq	Phase_I	73243168	.	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Intron	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.418	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ENC1	8507	broad.mit.edu	37	5	73930636	73930636	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:73930636C>T	ENST00000302351.4	-	2	2805	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.D559N|ENC1_ENST00000510316.1_Missense_Mutation_p.D486N	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	559				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D559N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		AATGTTGGATCGTAGCAGTCC	0.493																																					p.D559N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1675A	5						.						118.0	91.0	100.0					5																	73930636		2203	4300	6503	73966392	SO:0001583	missense	8507	exon2			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1675G>A	5.37:g.73930636C>T	ENSP00000306356:p.Asp559Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73966392	NM_003633	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649509	0.87958	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.86769	-2.17;-2.17;-2.17	5.75	5.75	0.90469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90708	0.4625	10	0.39692	T	0.17	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	559	O14682	ENC1_HUMAN	N	559;486;559	ENSP00000306356:D559N;ENSP00000423804:D486N;ENSP00000446289:D559N	ENSP00000306356:D559N	D	-	1	0	ENC1	73966392	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.818000	0.86416	2.714000	0.92807	0.561000	0.74099	GAT		0.493	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633	
HMGCR	3156	broad.mit.edu	37	5	74640131	74640131	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:74640131C>A	ENST00000287936.4	+	4	495	c.339C>A	c.(337-339)ttC>ttA	p.F113L	HMGCR_ENST00000511206.1_Missense_Mutation_p.F113L|HMGCR_ENST00000343975.5_Missense_Mutation_p.F113L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	113	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.F113L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCATTCACTTCTTAGACAAAG	0.294																																					p.F113L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C339A	5						.						84.0	81.0	82.0					5																	74640131		2202	4297	6499	74675887	SO:0001583	missense	3156	exon4				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.339C>A	5.37:g.74640131C>A	ENSP00000287936:p.Phe113Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74675887	NM_000859	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.583828|3.583828	0.65992|0.65992	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975|ENST00000544469	D;D;D|.	0.89485|.	-2.52;-2.52;-2.52|.	5.52|5.52	3.73|3.73	0.42828|0.42828	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30135|0.30135	0.0755|0.0755	N|N	0.05534|0.05534	-0.03|-0.03	0.80722|0.80722	D|D	1|1	B;P;B|.	0.46859|.	0.276;0.885;0.276|.	B;P;B|.	0.48524|.	0.137;0.58;0.137|.	T|T	0.16808|0.16808	-1.0390|-1.0390	10|6	0.13853|0.72032	T|D	0.58|0.01	-18.6704|-18.6704	5.4301|5.4301	0.16448|0.16448	0.1584:0.6189:0.0:0.2227|0.1584:0.6189:0.0:0.2227	.|.	113;113;113|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	L|I	113|45	ENSP00000426745:F113L;ENSP00000287936:F113L;ENSP00000340816:F113L|.	ENSP00000287936:F113L|ENSP00000440782:L45I	F|L	+|+	3|1	2|0	HMGCR|HMGCR	74675887|74675887	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.744000|0.744000	0.26245|0.26245	1.329000|1.329000	0.45376|0.45376	0.491000|0.491000	0.48974|0.48974	TTC|CTT		0.294	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		
POLK	51426	broad.mit.edu	37	5	74893576	74893576	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:74893576C>A	ENST00000241436.4	+	14	2662	c.2490C>A	c.(2488-2490)agC>agA	p.S830R	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000504026.1_Missense_Mutation_p.A454D|POLK_ENST00000380481.3_Missense_Mutation_p.S740R|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.S632R|POLK_ENST00000508526.1_Missense_Mutation_p.S632R	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	830					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S830R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTAAAGGTAGCTCAAGTGGAG	0.254								DNA polymerases (catalytic subunits)																													p.S830R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2490A	5						.						45.0	48.0	47.0					5																	74893576		2197	4290	6487	74929332	SO:0001583	missense	51426	exon14			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2490C>A	5.37:g.74893576C>A	ENSP00000241436:p.Ser830Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74929332	NM_016218	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.053|0.053	-1.245697|-1.245697	0.01481|0.01481	.|.	.|.	ENSG00000122008|ENSG00000122008	ENST00000504026|ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T|T;T;T;T	0.42900|0.55760	0.96|1.25;0.5;0.5;1.25	4.47|4.47	3.6|3.6	0.41247|0.41247	.|.	.|1.430510	.|0.03851	.|N	.|0.272327	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B|B;B	0.02656|0.11235	0.0|0.004;0.001	B|B;B	0.06405|0.16289	0.002|0.015;0.004	T|T	0.22521|0.22521	-1.0214|-1.0214	9|10	0.42905|0.33141	T|T	0.14|0.24	0.0487|0.0487	4.4472|4.4472	0.11604|0.11604	0.1785:0.6294:0.0:0.1921|0.1785:0.6294:0.0:0.1921	.|.	454|632;830	Q5Q9G5|Q9UBT6-3;Q9UBT6	.|.;POLK_HUMAN	D|R	454|830;632;632;740	ENSP00000425075:A454D|ENSP00000241436:S830R;ENSP00000342256:S632R;ENSP00000426853:S632R;ENSP00000369848:S740R	ENSP00000425075:A454D|ENSP00000241436:S830R	A|S	+|+	2|3	0|2	POLK|POLK	74929332|74929332	0.001000|0.001000	0.12720|0.12720	0.257000|0.257000	0.24404|0.24404	0.253000|0.253000	0.25986|0.25986	0.166000|0.166000	0.16583|0.16583	1.000000|1.000000	0.39049|0.39049	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.254	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	
POC5	134359	broad.mit.edu	37	5	74990616	74990616	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:74990616A>C	ENST00000428202.2	-	6	743	c.554T>G	c.(553-555)tTt>tGt	p.F185C	POC5_ENST00000514838.2_Missense_Mutation_p.F157C|POC5_ENST00000446329.2_Missense_Mutation_p.F160C|POC5_ENST00000380475.2_Missense_Mutation_p.F68C|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000510798.1_Missense_Mutation_p.F68C	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	185					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F159C(1)|p.F185C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGTCAATAAAATTAAGTCT	0.303																																					p.F185C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T554G	5						.						53.0	52.0	52.0					5																	74990616		1803	4082	5885	75026372	SO:0001583	missense	134359	exon6			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.554T>G	5.37:g.74990616A>C	ENSP00000410216:p.Phe185Cys	Somatic		Capture	Illumina HiSeq	Phase_I	75026372	NM_001099271	B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892033	0.52014	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T	0.52754	1.69;1.28;0.65;0.65;1.68	5.6	5.6	0.85130	.	0.150415	0.64402	D	0.000008	T	0.68778	0.3038	M	0.74881	2.28	0.50813	D	0.999896	D;P;P	0.89917	1.0;0.594;0.594	D;B;B	0.73380	0.98;0.274;0.274	T	0.73046	-0.4106	10	0.87932	D	0	-28.5029	15.8396	0.78835	1.0:0.0:0.0:0.0	.	68;185;160	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	C	185;157;68;68;160;68	ENSP00000410216:F185C;ENSP00000420971:F157C;ENSP00000369842:F68C;ENSP00000426796:F68C;ENSP00000399481:F160C	ENSP00000369842:F68C	F	-	2	0	POC5	75026372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.357000	0.73051	2.138000	0.66242	0.529000	0.55759	TTT		0.303	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408	
F2RL2	2151	broad.mit.edu	37	5	75913655	75913655	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:75913655C>T	ENST00000296641.4	-	2	1080	c.877G>A	c.(877-879)Gat>Aat	p.D293N	F2RL2_ENST00000504899.1_Missense_Mutation_p.D271N|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	293					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.D293N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CATCTATGATCGTATGCATTA	0.383																																					p.D293N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G877A	5						.						93.0	83.0	86.0					5																	75913655		2203	4300	6503	75949411	SO:0001583	missense	2151	exon2			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.877G>A	5.37:g.75913655C>T	ENSP00000296641:p.Asp293Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75949411	NM_004101	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	C	5.246	0.230783	0.09969	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36520	1.25;1.25	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.327871	0.31821	N	0.007015	T	0.23492	0.0568	N	0.21097	0.63	0.09310	N	1	P	0.52316	0.952	B	0.41510	0.359	T	0.14727	-1.0462	10	0.12103	T	0.63	-16.8876	13.2938	0.60286	0.0:0.9244:0.0:0.0756	.	293	O00254	PAR3_HUMAN	N	293;271	ENSP00000296641:D293N;ENSP00000426703:D271N	ENSP00000296641:D293N	D	-	1	0	F2RL2	75949411	0.999000	0.42202	0.151000	0.22473	0.182000	0.23217	4.428000	0.59894	2.477000	0.83638	0.563000	0.77884	GAT		0.383	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3		
PDE8B	8622	broad.mit.edu	37	5	76621554	76621554	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:76621554G>T	ENST00000264917.5	+	3	635	c.590G>T	c.(589-591)aGg>aTg	p.R197M	PDE8B_ENST00000340978.3_Splice_Site_p.R197M|PDE8B_ENST00000342343.4_Splice_Site_p.R177M|PDE8B_ENST00000346042.3_Splice_Site_p.R197M|PDE8B_ENST00000333194.4_Splice_Site_p.R197M	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	197					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R197M(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCAGTGTGCAGGTACCTTCTC	0.299																																					p.R177M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530T	5						.						61.0	63.0	62.0					5																	76621554		2201	4300	6501	76657310	SO:0001630	splice_region_variant	8622	exon2			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.590+1G>T	5.37:g.76621554G>T		Somatic		Capture	Illumina HiSeq	Phase_I	76657310	NM_001029853	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687730	0.88639	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000502945	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.79	5.79	0.91817	Signal transduction response regulator, receiver domain (1);	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.994;0.992;0.995	T	0.76358	-0.2988	10	0.87932	D	0	.	20.0816	0.97778	0.0:0.0:1.0:0.0	.	197;197;197;177;197	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	M	73;197;197;197;177;197;73	ENSP00000425720:R73M;ENSP00000345446:R197M;ENSP00000330428:R197M;ENSP00000264917:R197M;ENSP00000345646:R177M;ENSP00000331336:R197M;ENSP00000426200:R73M	ENSP00000264917:R197M	R	+	2	0	PDE8B	76657310	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.364000	0.73086	2.743000	0.94032	0.650000	0.86243	AGG		0.299	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	Missense_Mutation
PDE8B	8622	broad.mit.edu	37	5	76709036	76709036	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:76709036G>A	ENST00000264917.5	+	17	1858	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	PDE8B_ENST00000340978.3_Missense_Mutation_p.E558K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E585K|PDE8B_ENST00000505283.1_Missense_Mutation_p.E70K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E508K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E550K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	605	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E605K(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCAAGTGATCGAAGCCAACTA	0.483																																					p.E585K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1753A	5						.						204.0	188.0	194.0					5																	76709036		2203	4300	6503	76744792	SO:0001583	missense	8622	exon16			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1813G>A	5.37:g.76709036G>A	ENSP00000264917:p.Glu605Lys	Somatic		Capture	Illumina HiSeq	Phase_I	76744792	NM_001029853	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635464	0.96682	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.7	5.7	0.88788	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.091906	0.64402	D	0.000001	D	0.90553	0.7039	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.999;0.997	D	0.91632	0.5319	10	0.87932	D	0	.	19.8266	0.96619	0.0:0.0:1.0:0.0	.	508;558;550;585;605	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	K	558;508;605;585;550;70	ENSP00000345446:E558K;ENSP00000330428:E508K;ENSP00000264917:E605K;ENSP00000345646:E585K;ENSP00000331336:E550K;ENSP00000423461:E70K	ENSP00000264917:E605K	E	+	1	0	PDE8B	76744792	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.808000	0.99193	2.691000	0.91804	0.561000	0.74099	GAA		0.483	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
PDE8B	8622	broad.mit.edu	37	5	76721656	76721656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:76721656G>A	ENST00000264917.5	+	21	2528	c.2483G>A	c.(2482-2484)aGc>aAc	p.S828N	PDE8B_ENST00000340978.3_Missense_Mutation_p.S781N|PDE8B_ENST00000342343.4_Missense_Mutation_p.S808N|PDE8B_ENST00000505283.1_Missense_Mutation_p.S293N|WDR41_ENST00000512033.1_5'Flank|PDE8B_ENST00000346042.3_Missense_Mutation_p.S731N|PDE8B_ENST00000333194.4_Missense_Mutation_p.S773N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	828	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S828N(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AATACCTGTAGCATCCCCAAG	0.438																																					p.S808N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2423A	5						.						153.0	138.0	143.0					5																	76721656		2203	4300	6503	76757412	SO:0001583	missense	8622	exon20			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2483G>A	5.37:g.76721656G>A	ENSP00000264917:p.Ser828Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76757412	NM_001029853	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159186	0.78226	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	6.08	6.08	0.98989	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	N	0.16656	0.425	0.80722	D	1	B;B;B;B;B	0.33120	0.093;0.346;0.346;0.346;0.398	B;B;B;B;B	0.33392	0.065;0.102;0.16;0.102;0.163	T	0.65726	-0.6098	10	0.39692	T	0.17	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	731;781;773;808;828	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	781;731;828;808;773;293	ENSP00000345446:S781N;ENSP00000330428:S731N;ENSP00000264917:S828N;ENSP00000345646:S808N;ENSP00000331336:S773N;ENSP00000423461:S293N	ENSP00000264917:S828N	S	+	2	0	PDE8B	76757412	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	AGC		0.438	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
OTP	23440	broad.mit.edu	37	5	76932823	76932823	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:76932823C>T	ENST00000306422.3	-	2	1408	c.270G>A	c.(268-270)ccG>ccA	p.P90P	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	90					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P90P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGCTGGGGTTCGGGCCGCCCT	0.697																																					p.P90P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G270A	5						.						46.0	54.0	51.0					5																	76932823		2203	4299	6502	76968579	SO:0001819	synonymous_variant	23440	exon2				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.270G>A	5.37:g.76932823C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76968579	NM_032109		Silent	SNP	ENST00000306422.3	37	CCDS4039.1																																																																																				0.697	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2		
TBCA	6902	broad.mit.edu	37	5	77004065	77004065	+	Splice_Site	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:77004065A>G	ENST00000380377.4	-	2	263		c.e2+1		TBCA_ENST00000520039.1_Intron|TBCA_ENST00000520361.1_Splice_Site|TBCA_ENST00000306388.6_Splice_Site|TBCA_ENST00000522370.1_Splice_Site|TBCA_ENST00000518338.2_Splice_Site|TBCA_ENST00000517679.1_Splice_Site	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)	p.?(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		ATATAATTTTACCTGCTTTTT	0.269																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						95.0	89.0	91.0					5																	77004065		2203	4292	6495	77039821	SO:0001630	splice_region_variant	6902	.			AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.159+1T>C	5.37:g.77004065A>G		Somatic		Capture	Illumina HiSeq	Phase_I	77039821	.	B4DT30	Splice_Site	SNP	ENST00000380377.4	37	CCDS4040.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027804	0.54790	.	.	ENSG00000171530	ENST00000380377;ENST00000517679;ENST00000306388;ENST00000520361;ENST00000522370	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3418	0.32247	0.9098:0.0:0.0902:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBCA	77039821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.357000	0.59436	1.936000	0.56123	0.455000	0.32223	.		0.269	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607	Intron
AP3B1	8546	broad.mit.edu	37	5	77477330	77477330	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:77477330C>T	ENST00000255194.6	-	8	1118		c.e8+1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.?(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTTTAACATACCGCAGCATTC	0.338									Hermansky-Pudlak syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						78.0	78.0	78.0					5																	77477330		2203	4300	6503	77513086	SO:0001630	splice_region_variant	8546	.	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.942+1G>A	5.37:g.77477330C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77513086	.	E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927624	0.92389	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77513086	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.460000	0.80816	2.805000	0.96524	0.655000	0.94253	.		0.338	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		Intron
AP3B1	8546	broad.mit.edu	37	5	77590268	77590268	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:77590268C>A	ENST00000255194.6	-	1	304				AP3B1_ENST00000519295.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.?(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCAAACCTTTCTCCTCACTTC	0.657									Hermansky-Pudlak syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						47.0	53.0	51.0					5																	77590268		2203	4300	6503	77626024	SO:0001627	intron_variant	8546	.	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.128+7G>T	5.37:g.77590268C>A		Somatic		Capture	Illumina HiSeq	Phase_I	77626024	.	E5RJ68|O00580|Q7Z393|Q9HD66	Intron	SNP	ENST00000255194.6	37	CCDS4041.1																																																																																				0.657	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
ARSB	411	broad.mit.edu	37	5	78076387	78076387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:78076387G>A	ENST00000264914.4	-	8	1971	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	479					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.R479W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCAGGGTCCCGATCAATATCA	0.498																																					p.R479W	Melanoma(169;563 1968 25780 26156 52266)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1435T	5						.						102.0	95.0	97.0					5																	78076387		2203	4300	6503	78112143	SO:0001583	missense	411	exon8			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1435C>T	5.37:g.78076387G>A	ENSP00000264914:p.Arg479Trp	Somatic		Capture	Illumina HiSeq	Phase_I	78112143	NM_000046	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438933	0.63067	.	.	ENSG00000113273	ENST00000264914	D	0.92858	-3.12	5.58	2.77	0.32553	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.279680	0.04818	N	0.436414	D	0.92087	0.7492	L	0.57536	1.79	0.09310	N	0.999999	D	0.57899	0.981	P	0.47299	0.543	T	0.79659	-0.1711	10	0.66056	D	0.02	.	9.2399	0.37489	0.0685:0.0:0.6727:0.2588	.	479	P15848	ARSB_HUMAN	W	479	ENSP00000264914:R479W	ENSP00000264914:R479W	R	-	1	2	ARSB	78112143	0.253000	0.23982	0.008000	0.14137	0.859000	0.49053	1.532000	0.36029	0.275000	0.22094	0.555000	0.69702	CGG		0.498	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046	
ARSB	411	broad.mit.edu	37	5	78260411	78260411	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:78260411T>C	ENST00000264914.4	-	3	1054	c.518A>G	c.(517-519)gAa>gGa	p.E173G	ARSB_ENST00000565165.1_Missense_Mutation_p.E173G|ARSB_ENST00000396151.3_Missense_Mutation_p.E173G	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	173					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.E173G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATAATAATCTTCACTACCCAG	0.373																																					p.E173G	Melanoma(169;563 1968 25780 26156 52266)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A518G	5						.						86.0	74.0	78.0					5																	78260411		2203	4300	6503	78296167	SO:0001583	missense	411	exon4			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.518A>G	5.37:g.78260411T>C	ENSP00000264914:p.Glu173Gly	Somatic		Capture	Illumina HiSeq	Phase_I	78296167	NM_198709	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045003	0.75846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98792	-5.14;-5.14	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	N	0.16790	0.44	0.80722	D	1	D;P	0.67145	0.996;0.893	D;P	0.70487	0.969;0.823	D	0.97261	0.9904	10	0.22706	T	0.39	.	15.6521	0.77104	0.0:0.0:0.0:1.0	.	173;173	Q8N322;P15848	.;ARSB_HUMAN	G	173	ENSP00000264914:E173G;ENSP00000379455:E173G	ENSP00000264914:E173G	E	-	2	0	ARSB	78296167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.673000	0.68109	2.150000	0.67090	0.528000	0.53228	GAA		0.373	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046	
BHMT	635	broad.mit.edu	37	5	78415191	78415191	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:78415191G>A	ENST00000274353.5	+	3	383	c.276G>A	c.(274-276)gaG>gaA	p.E92E	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	92	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E92E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATGTCTTAGAGAAGATATCTG	0.458																																					p.E92E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276A	5						.						103.0	97.0	99.0					5																	78415191		2203	4300	6503	78450947	SO:0001819	synonymous_variant	635	exon3			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.276G>A	5.37:g.78415191G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78450947	NM_001713	Q9UNI9	Silent	SNP	ENST00000274353.5	37	CCDS4046.1																																																																																				0.458	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
HOMER1	9456	broad.mit.edu	37	5	78746936	78746936	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:78746936T>A	ENST00000334082.6	-	3	1613	c.171A>T	c.(169-171)atA>atT	p.I57I	HOMER1_ENST00000508576.1_Silent_p.I57I|HOMER1_ENST00000282260.6_Silent_p.I57I|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	57	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)	p.I57I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TGGTACTATTTATTATTGCCT	0.368																																					p.I57I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A171T	5						.						99.0	92.0	94.0					5																	78746936		1821	4101	5922	78782692	SO:0001819	synonymous_variant	9456	exon3			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.171A>T	5.37:g.78746936T>A		Somatic		Capture	Illumina HiSeq	Phase_I	78782692	NM_004272	B2R688|O96003|Q86YM5	Silent	SNP	ENST00000334082.6	37	CCDS43335.1																																																																																				0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
PAPD4	167153	broad.mit.edu	37	5	78936750	78936750	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:78936750G>A	ENST00000296783.3	+	6	841	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	PAPD4_ENST00000423041.2_Missense_Mutation_p.R181Q|PAPD4_ENST00000428308.2_Missense_Mutation_p.R181Q|PAPD4_ENST00000453514.1_Missense_Mutation_p.R181Q|PAPD4_ENST00000504233.1_Missense_Mutation_p.R181Q			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	181					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.R181Q(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAACTCTGTCGAACACAGCTG	0.348																																					p.R181Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	5						.						71.0	71.0	71.0					5																	78936750		2203	4300	6503	78972506	SO:0001583	missense	167153	exon5			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.542G>A	5.37:g.78936750G>A	ENSP00000296783:p.Arg181Gln	Somatic		Capture	Illumina HiSeq	Phase_I	78972506	NM_001114394	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676268	0.67928	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.77004	0.555;0.989;0.944	T	0.43130	-0.9410	10	0.28530	T	0.3	-7.9738	20.275	0.98485	0.0:0.0:1.0:0.0	.	181;181;181	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	Q	181	ENSP00000397563:R181Q;ENSP00000393412:R181Q;ENSP00000421966:R181Q;ENSP00000396861:R181Q;ENSP00000296783:R181Q	ENSP00000296783:R181Q	R	+	2	0	PAPD4	78972506	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	9.110000	0.94302	2.800000	0.96347	0.455000	0.32223	CGA		0.348	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
CMYA5	202333	broad.mit.edu	37	5	79032024	79032024	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79032024C>A	ENST00000446378.2	+	2	7467	c.7436C>A	c.(7435-7437)tCt>tAt	p.S2479Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2479					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S2479Y(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAACTCTGTGGCCCCA	0.383																																					p.S2479Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7436A	5						.						50.0	51.0	51.0					5																	79032024		1825	4090	5915	79067780	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7436C>A	5.37:g.79032024C>A	ENSP00000394770:p.Ser2479Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	79067780	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	6.746	0.506505	0.12883	.	.	ENSG00000164309	ENST00000446378	T	0.18338	2.22	5.85	-5.61	0.02489	.	2.172160	0.02023	N	0.047965	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	1	P	0.51653	0.947	B	0.37601	0.254	T	0.34825	-0.9813	10	0.72032	D	0.01	.	1.6579	0.02785	0.207:0.2459:0.1028:0.4443	.	2479	Q8N3K9	CMYA5_HUMAN	Y	2479	ENSP00000394770:S2479Y	ENSP00000394770:S2479Y	S	+	2	0	CMYA5	79067780	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-1.709000	0.01890	-0.606000	0.05746	0.655000	0.94253	TCT		0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79035093	79035093	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79035093A>C	ENST00000446378.2	+	2	10536	c.10505A>C	c.(10504-10506)aAa>aCa	p.K3502T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3502					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K3502T(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGGCACAAAAAGAGCTGAAA	0.433																																					p.K3502T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A10505C	5						.						75.0	69.0	71.0					5																	79035093		1923	4129	6052	79070849	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10505A>C	5.37:g.79035093A>C	ENSP00000394770:p.Lys3502Thr	Somatic		Capture	Illumina HiSeq	Phase_I	79070849	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	4.030	0.003006	0.07866	.	.	ENSG00000164309	ENST00000446378	T	0.37584	1.19	6.03	2.27	0.28462	.	0.221678	0.31747	N	0.007121	T	0.31295	0.0792	M	0.65975	2.015	0.28727	N	0.902703	B	0.27498	0.18	B	0.23150	0.044	T	0.29027	-1.0025	10	0.66056	D	0.02	.	5.3368	0.15961	0.5069:0.2866:0.2065:0.0	.	3502	Q8N3K9	CMYA5_HUMAN	T	3502	ENSP00000394770:K3502T	ENSP00000394770:K3502T	K	+	2	0	CMYA5	79070849	0.990000	0.36364	0.858000	0.33744	0.038000	0.13279	0.681000	0.25320	0.144000	0.18951	-0.331000	0.08364	AAA		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79048550	79048550	+	Silent	SNP	G	G	A	rs202168717	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79048550G>A	ENST00000446378.2	+	6	11074	c.11043G>A	c.(11041-11043)gcG>gcA	p.A3681A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3681					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A3681A(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCCTGCTGCGTTTTCCCTTT	0.373																																					p.A3681A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G11043A	5						.	G		1,3673		0,1,1836	92.0	88.0	90.0		11043	-12.3	0.0	5		90	1,8155		0,1,4077	no	coding-synonymous	CMYA5	NM_153610.3		0,2,5913	AA,AG,GG		0.0123,0.0272,0.0169		3681/4070	79048550	2,11828	1837	4078	5915	79084306	SO:0001819	synonymous_variant	202333	exon6			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11043G>A	5.37:g.79048550G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79084306	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
MTX3	345778	broad.mit.edu	37	5	79282773	79282773	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79282773C>A	ENST00000512528.1	-	7	759	c.739G>T	c.(739-741)Ggc>Tgc	p.G247C	MTX3_ENST00000509852.1_Splice_Site_p.D247Y|MTX3_ENST00000512560.1_Splice_Site_p.G186C			Q5HYI7	MTX3_HUMAN	metaxin 3	247					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.D247Y(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GCCAGCTTACCTCCAAGACTA	0.363																																					p.D247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739T	5						.						98.0	96.0	97.0					5																	79282773		1869	4103	5972	79318529	SO:0001630	splice_region_variant	345778	exon7			BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.739+1G>T	5.37:g.79282773C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79318529	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.93|13.93|13.93	2.382596|2.382596|2.382596	0.42207|0.42207|0.42207	.|.|.	.|.|.	ENSG00000177034|ENSG00000177034|ENSG00000177034	ENST00000509852|ENST00000418095|ENST00000512560;ENST00000512528	T|.|T;T	0.46819|.|0.46819	0.86|.|0.87;0.86	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.36386|.|0.36386	0.0965|.|0.0965	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.45342|0.45342|0.45342	D|D|D	0.998336|0.998336|0.998336	B|.|B	0.22909|.|0.10296	0.077|.|0.003	B|.|B	0.19391|.|0.08055	0.025|.|0.003	T|.|T	0.08597|.|0.08597	-1.0714|.|-1.0714	8|.|8	.|.|.	.|.|.	.|.|.	.|.|.	15.0423|15.0423|15.0423	0.71799|0.71799|0.71799	0.0:0.9309:0.0:0.0691|0.0:0.9309:0.0:0.0691|0.0:0.9309:0.0:0.0691	.|.|.	247|.|247	Q5HYI7-4|.|Q5HYI7	.|.|MTX3_HUMAN	Y|X|C	247|247|186;247	ENSP00000423302:D247Y|.|ENSP00000423600:G186C;ENSP00000424798:G247C	.|.|.	D|E|G	-|-|-	1|1|1	0|0|0	MTX3|MTX3|MTX3	79318529|79318529|79318529	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.937000|0.937000|0.937000	0.57800|0.57800|0.57800	2.302000|2.302000|2.302000	0.43637|0.43637|0.43637	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GAA|GGC		0.363	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	Missense_Mutation
THBS4	7060	broad.mit.edu	37	5	79335943	79335943	+	Silent	SNP	C	C	T	rs367779999		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79335943C>T	ENST00000350881.2	+	2	322	c.132C>T	c.(130-132)ggC>ggT	p.G44G	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	44	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G44G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCCAGGCGCTCTGCTGC	0.488																																					p.G44G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	5						.	C		2,4404	4.2+/-10.8	0,2,2201	77.0	79.0	79.0		132	-10.6	0.0	5		79	0,8600		0,0,4300	no	coding-synonymous	THBS4	NM_003248.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		44/962	79335943	2,13004	2203	4300	6503	79371699	SO:0001819	synonymous_variant	7060	exon2				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.132C>T	5.37:g.79335943C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79371699	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.488	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
THBS4	7060	broad.mit.edu	37	5	79355738	79355738	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79355738C>A	ENST00000350881.2	+	7	1177				CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Intron	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4						behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTAAAAGTTCACTTAGACTG	0.517																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						94.0	94.0	94.0					5																	79355738		2203	4300	6503	79391494	SO:0001627	intron_variant	7060	.				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.987+10C>A	5.37:g.79355738C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79391494	.	B2R909|Q86TG2	Intron	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
THBS4	7060	broad.mit.edu	37	5	79374967	79374967	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79374967C>A	ENST00000350881.2	+	19	2587	c.2397C>A	c.(2395-2397)atC>atA	p.I799I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Silent_p.I708I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	799	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.I799I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGGCTTTATCTTTGGCTACC	0.493																																					p.I799I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2397A	5						.						131.0	121.0	124.0					5																	79374967		2203	4300	6503	79410723	SO:0001819	synonymous_variant	7060	exon19				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2397C>A	5.37:g.79374967C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79410723	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.493	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
ZFYVE16	9765	broad.mit.edu	37	5	79741078	79741078	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79741078C>A	ENST00000338008.5	+	6	2761				ZFYVE16_ENST00000505560.1_Intron|ZFYVE16_ENST00000510158.1_Intron	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16						BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.?(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAATTGATTCTAGGACTATG	0.328																																					.	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Unknown(1)	large_intestine(1)	.	5						.						99.0	96.0	97.0					5																	79741078		2203	4300	6503	79776834	SO:0001627	intron_variant	9765	.			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2582-4C>A	5.37:g.79741078C>A		Somatic		Capture	Illumina HiSeq	Phase_I	79776834	.	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Intron	SNP	ENST00000338008.5	37	CCDS4050.1																																																																																				0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ZFYVE16	9765	broad.mit.edu	37	5	79752363	79752363	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79752363A>G	ENST00000338008.5	+	12	3954	c.3774A>G	c.(3772-3774)atA>atG	p.I1258M	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I1258M|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I1258M	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1258					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.I1258M(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GCATAAAAATACCACGGAAAA	0.299																																					p.I1258M	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3774G	5						.						94.0	91.0	92.0					5																	79752363		2202	4298	6500	79788119	SO:0001583	missense	9765	exon12			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3774A>G	5.37:g.79752363A>G	ENSP00000337159:p.Ile1258Met	Somatic		Capture	Illumina HiSeq	Phase_I	79788119	NM_014733	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627573	0.66901	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.55588	0.51;0.51;0.51	5.69	0.0717	0.14383	Domain of unknown function DUF3480 (1);	0.091372	0.46758	D	0.000270	T	0.62454	0.2429	M	0.66939	2.045	0.50632	D	0.999884	P;D	0.71674	0.845;0.998	P;D	0.67900	0.886;0.954	T	0.61033	-0.7144	10	0.87932	D	0	-10.1385	7.2074	0.25915	0.3872:0.3728:0.0:0.24	.	68;1258	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	M	1258	ENSP00000337159:I1258M;ENSP00000423663:I1258M;ENSP00000426848:I1258M	ENSP00000337159:I1258M	I	+	3	3	ZFYVE16	79788119	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	1.037000	0.30241	0.062000	0.16340	0.477000	0.44152	ATA		0.299	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
MSH3	4437	broad.mit.edu	37	5	79968076	79968076	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:79968076A>G	ENST00000265081.6	+	5	886	c.806A>G	c.(805-807)gAg>gGg	p.E269G		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	269	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.E260G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAGCCCGAGAGCTCAATATT	0.318								Mismatch excision repair (MMR)																													p.E269G	Melanoma(88;1010 1399 13793 26548 36275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A806G	5						.						79.0	78.0	79.0					5																	79968076		2203	4300	6503	80003832	SO:0001583	missense	4437	exon5			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.806A>G	5.37:g.79968076A>G	ENSP00000265081:p.Glu269Gly	Somatic		Capture	Illumina HiSeq	Phase_I	80003832	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000299	0.74818	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90197	-2.63	5.69	5.69	0.88448	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.053759	0.64402	D	0.000001	D	0.96219	0.8767	M	0.91920	3.255	0.48452	D	0.999659	D	0.89917	1.0	D	0.78314	0.991	D	0.96988	0.9720	9	.	.	.	-25.4665	15.6249	0.76848	1.0:0.0:0.0:0.0	.	269	P20585	MSH3_HUMAN	G	269;260	ENSP00000265081:E269G	.	E	+	2	0	MSH3	80003832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	2.178000	0.69098	0.528000	0.53228	GAG		0.318	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
MSH3	4437	broad.mit.edu	37	5	80071530	80071530	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:80071530G>T	ENST00000265081.6	+	16	2351	c.2271G>T	c.(2269-2271)aaG>aaT	p.K757N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	757					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.K748N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TAGAAATAAAGAACTCTGCTG	0.269								Mismatch excision repair (MMR)																													p.K757N	Melanoma(88;1010 1399 13793 26548 36275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2271T	5						.						56.0	59.0	58.0					5																	80071530		2200	4297	6497	80107286	SO:0001583	missense	4437	exon16			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2271G>T	5.37:g.80071530G>T	ENSP00000265081:p.Lys757Asn	Somatic		Capture	Illumina HiSeq	Phase_I	80107286	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471637	0.63737	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90069	-2.61	5.54	5.54	0.83059	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.66506	2.035	0.40032	D	0.975542	D	0.89917	1.0	D	0.97110	1.0	D	0.92576	0.6070	9	.	.	.	-21.5582	12.0215	0.53346	0.0816:0.0:0.9184:0.0	.	757	P20585	MSH3_HUMAN	N	757;748	ENSP00000265081:K757N	.	K	+	3	2	MSH3	80107286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.151000	0.77411	2.607000	0.88179	0.585000	0.79938	AAG		0.269	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
RASGRF2	5924	broad.mit.edu	37	5	80497209	80497209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:80497209C>T	ENST00000265080.4	+	19	2921	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R952*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTTTTGCGAGACCCAGA	0.403																																					p.R952X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2854T	5						.						73.0	83.0	80.0					5																	80497209		2203	4300	6503	80532965	SO:0001587	stop_gained	5924	exon19			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2854C>T	5.37:g.80497209C>T	ENSP00000265080:p.Arg952*	Somatic		Capture	Illumina HiSeq	Phase_I	80532965	NM_006909	B9EG89|Q9UK56	Nonsense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420475	0.98803	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.89	3.91	0.45181	.	0.275269	0.34932	N	0.003566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9024	0.70689	0.312:0.688:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265080:R952X	R	+	1	2	RASGRF2	80532965	0.502000	0.26107	0.996000	0.52242	0.985000	0.73830	0.688000	0.25422	1.463000	0.47967	0.561000	0.74099	CGA		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
CKMT2	1160	broad.mit.edu	37	5	80553567	80553567	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:80553567G>A	ENST00000424301.2	+	8	1009	c.771G>A	c.(769-771)aaG>aaA	p.K257K	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.K257K|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Silent_p.K257K	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	257	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.K257K(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATTATGATAAGACATTTCTCA	0.378																																					p.K257K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	5						.						114.0	104.0	107.0					5																	80553567		2203	4300	6503	80589323	SO:0001819	synonymous_variant	1160	exon8				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.771G>A	5.37:g.80553567G>A		Somatic		Capture	Illumina HiSeq	Phase_I	80589323	NM_001825	Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	CCDS4053.1																																																																																				0.378	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
ZCCHC9	84240	broad.mit.edu	37	5	80600772	80600772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:80600772G>T	ENST00000254037.2	+	1	3351	c.196G>T	c.(196-198)Gag>Tag	p.E66*	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Nonsense_Mutation_p.E66*|ZCCHC9_ENST00000380199.5_Nonsense_Mutation_p.E66*|ZCCHC9_ENST00000407610.3_Nonsense_Mutation_p.E66*			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	66					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E66*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAAGAAAAAAGAGTACTTAAA	0.368																																					p.E66X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G196T	5						.						72.0	72.0	72.0					5																	80600772		2203	4300	6503	80636528	SO:0001587	stop_gained	84240	exon2			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.196G>T	5.37:g.80600772G>T	ENSP00000254037:p.Glu66*	Somatic		Capture	Illumina HiSeq	Phase_I	80636528	NM_001131036	B2RAE7|Q9H027	Nonsense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	G	39	7.651478	0.98412	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	.	.	.	5.18	4.26	0.50523	.	0.562506	0.20226	N	0.096589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-31.8617	15.2837	0.73810	0.0:0.0:0.8598:0.1402	.	.	.	.	X	66	.	ENSP00000254037:E66X	E	+	1	0	ZCCHC9	80636528	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.739000	0.55075	2.544000	0.85801	0.655000	0.94253	GAG		0.368	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280	
ATG10	83734	broad.mit.edu	37	5	81474350	81474350	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:81474350C>A	ENST00000282185.3	+	5	691	c.397C>A	c.(397-399)Cat>Aat	p.H133N	ATG10_ENST00000514253.2_3'UTR|ATG10_ENST00000458350.3_Missense_Mutation_p.H133N|ATG10_ENST00000513634.1_Missense_Mutation_p.H133N	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	133					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)	p.H133N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GGAAGGAGTTCATGAGTGCTA	0.413																																					p.H133N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397A	5						.						212.0	183.0	193.0					5																	81474350		2203	4300	6503	81510106	SO:0001583	missense	83734	exon5			AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.397C>A	5.37:g.81474350C>A	ENSP00000282185:p.His133Asn	Somatic		Capture	Illumina HiSeq	Phase_I	81510106	NM_031482	B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743062	0.49151	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.44881	1.91;1.91;0.91	5.54	5.54	0.83059	Autophagy-related protein 3 (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.27053	0.805	0.47341	D	0.999391	D;P	0.64830	0.994;0.643	P;P	0.61658	0.892;0.565	T	0.28996	-1.0026	10	0.26408	T	0.33	-7.288	18.8233	0.92106	0.0:1.0:0.0:0.0	.	133;133	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	N	133	ENSP00000282185:H133N;ENSP00000404938:H133N;ENSP00000425225:H133N	ENSP00000282185:H133N	H	+	1	0	ATG10	81510106	1.000000	0.71417	0.946000	0.38457	0.951000	0.60555	5.317000	0.65822	2.765000	0.95021	0.484000	0.47621	CAT		0.413	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028	
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T	rs371506768		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547																																					p.C141C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	5						.	C		0,4406		0,0,2203	97.0	84.0	89.0		423	-6.3	0.0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	81649623	SO:0001819	synonymous_variant	92270	exon4			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	5.37:g.81613867C>T		Somatic		Capture	Illumina HiSeq	Phase_I	81649623	NM_001017971		Silent	SNP	ENST00000380167.4	37	CCDS34196.1																																																																																				0.547	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971	
XRCC4	7518	broad.mit.edu	37	5	82499370	82499370	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82499370G>T	ENST00000511817.1	+	5	562		c.e5-1		XRCC4_ENST00000509268.1_Splice_Site|XRCC4_ENST00000282268.3_Splice_Site|XRCC4_ENST00000396027.4_Splice_Site|XRCC4_ENST00000338635.6_Splice_Site			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4						cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TACTTTTTTAGATTTGAAAAA	0.299								Non-homologous end-joining																													.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						71.0	79.0	76.0					5																	82499370		2203	4298	6501	82535126	SO:0001630	splice_region_variant	7518	.			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.483-1G>T	5.37:g.82499370G>T		Somatic		Capture	Illumina HiSeq	Phase_I	82535126	.	A8K3X4|Q9BS72|Q9UP94	Splice_Site	SNP	ENST00000511817.1	37	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343701	0.61073	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3915	0.94584	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XRCC4	82535126	1.000000	0.71417	0.838000	0.33150	0.682000	0.39822	6.982000	0.76173	2.683000	0.91414	0.555000	0.69702	.		0.299	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	Intron
VCAN	1462	broad.mit.edu	37	5	82815539	82815539	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82815539G>A	ENST00000265077.3	+	7	1979	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D424N|VCAN_ENST00000342785.4_Missense_Mutation_p.D472N|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	472	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D472N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTATGCTACGGATTCATGGGA	0.418																																					p.D472N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414A	5						.						108.0	108.0	108.0					5																	82815539		2203	4300	6503	82851295	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1414G>A	5.37:g.82815539G>A	ENSP00000265077:p.Asp472Asn	Somatic		Capture	Illumina HiSeq	Phase_I	82851295	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435128	0.25813	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86164	-1.98;-2.06;-2.08	5.4	5.4	0.78164	.	0.620087	0.15941	N	0.237174	D	0.85911	0.5807	L	0.54323	1.7	0.19775	N	0.999952	P;P	0.43094	0.688;0.799	B;B	0.40901	0.218;0.343	T	0.79843	-0.1632	10	0.38643	T	0.18	.	17.5244	0.87795	0.0:0.0:1.0:0.0	.	472;472	P13611-3;P13611	.;CSPG2_HUMAN	N	472;472;424	ENSP00000265077:D472N;ENSP00000342768:D472N;ENSP00000425959:D424N	ENSP00000265077:D472N	D	+	1	0	VCAN	82851295	0.931000	0.31567	0.024000	0.17045	0.017000	0.09413	5.768000	0.68858	2.809000	0.96659	0.655000	0.94253	GAT		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82816372	82816372	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82816372C>T	ENST00000265077.3	+	7	2812	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.F701F|VCAN_ENST00000342785.4_Silent_p.F749F|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	749	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.F749F(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTTTTGATTTCCCAACATTGA	0.383																																					p.F749F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2247T	5						.						65.0	66.0	65.0					5																	82816372		2203	4300	6503	82852128	SO:0001819	synonymous_variant	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2247C>T	5.37:g.82816372C>T		Somatic		Capture	Illumina HiSeq	Phase_I	82852128	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82816704	82816704	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82816704G>T	ENST00000265077.3	+	7	3144	c.2579G>T	c.(2578-2580)aGt>aTt	p.S860I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S812I|VCAN_ENST00000342785.4_Missense_Mutation_p.S860I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	860	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S860I(1)|p.S860N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTCCAGATAGTACTCAAAAG	0.413																																					p.S860I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2579T	5						.						102.0	104.0	103.0					5																	82816704		2203	4300	6503	82852460	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2579G>T	5.37:g.82816704G>T	ENSP00000265077:p.Ser860Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82852460	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	3.775	-0.046767	0.07407	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.23754	1.89;1.89;1.89	6.07	3.2	0.36748	.	0.513863	0.20818	N	0.085114	T	0.23014	0.0556	L	0.54323	1.7	0.19300	N	0.999971	B;B	0.21381	0.029;0.055	B;B	0.15870	0.013;0.014	T	0.13229	-1.0517	10	0.42905	T	0.14	.	9.7066	0.40220	0.0:0.1329:0.5942:0.2729	.	860;860	P13611-3;P13611	.;CSPG2_HUMAN	I	860;860;812	ENSP00000265077:S860I;ENSP00000342768:S860I;ENSP00000425959:S812I	ENSP00000265077:S860I	S	+	2	0	VCAN	82852460	0.000000	0.05858	0.685000	0.30070	0.117000	0.20001	0.406000	0.21032	1.566000	0.49654	-0.169000	0.13324	AGT		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82834109	82834109	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82834109A>G	ENST00000265077.3	+	8	5852	c.5287A>G	c.(5287-5289)Aca>Gca	p.T1763A	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T776A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1763	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T1763A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAATGTAGCTACATCTAGTGA	0.383																																					p.T1763A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5287G	5						.						73.0	76.0	75.0					5																	82834109		2203	4300	6503	82869865	SO:0001583	missense	1462	exon8			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5287A>G	5.37:g.82834109A>G	ENSP00000265077:p.Thr1763Ala	Somatic		Capture	Illumina HiSeq	Phase_I	82869865	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	7.828	0.719194	0.15372	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86097	-2.06;-2.07;3.07	5.82	-2.77	0.05877	.	1.126930	0.06497	N	0.735587	T	0.67449	0.2894	N	0.17474	0.49	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.56251	-0.8010	10	0.02654	T	1	.	6.9381	0.24478	0.4746:0.3298:0.1956:0.0	.	776;1763	P13611-2;P13611	.;CSPG2_HUMAN	A	1763;776;776	ENSP00000265077:T1763A;ENSP00000340062:T776A;ENSP00000426251:T776A	ENSP00000265077:T1763A	T	+	1	0	VCAN	82869865	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.332000	0.07904	-1.162000	0.02797	-1.139000	0.01908	ACA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82835677	82835677	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82835677C>A	ENST00000265077.3	+	8	7420	c.6855C>A	c.(6853-6855)ccC>ccA	p.P2285P	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.P1298P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2285	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P2285P(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CATTATATCCCCACACTTCTC	0.383																																					p.P2285P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6855A	5						.						88.0	89.0	89.0					5																	82835677		2203	4300	6503	82871433	SO:0001819	synonymous_variant	1462	exon8			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6855C>A	5.37:g.82835677C>A		Somatic		Capture	Illumina HiSeq	Phase_I	82871433	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82835774	82835774	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82835774A>G	ENST00000265077.3	+	8	7517	c.6952A>G	c.(6952-6954)Aca>Gca	p.T2318A	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1331A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2318	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T2318A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGTATCTCAAACAGACATCTT	0.428																																					p.T2318A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6952G	5						.						115.0	110.0	112.0					5																	82835774		2203	4300	6503	82871530	SO:0001583	missense	1462	exon8			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6952A>G	5.37:g.82835774A>G	ENSP00000265077:p.Thr2318Ala	Somatic		Capture	Illumina HiSeq	Phase_I	82871530	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698337	0.30142	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.37752	1.18;1.18	6.07	4.92	0.64577	.	0.287924	0.30969	N	0.008505	T	0.39708	0.1088	L	0.55990	1.75	0.51233	D	0.99991	B;D	0.58268	0.141;0.982	B;P	0.51266	0.041;0.664	T	0.25328	-1.0135	10	0.48119	T	0.1	.	6.8308	0.23909	0.8541:0.0:0.1459:0.0	.	1331;2318	P13611-2;P13611	.;CSPG2_HUMAN	A	2318;1331	ENSP00000265077:T2318A;ENSP00000340062:T1331A	ENSP00000265077:T2318A	T	+	1	0	VCAN	82871530	0.002000	0.14202	0.182000	0.23118	0.057000	0.15508	1.059000	0.30517	2.330000	0.79161	0.528000	0.53228	ACA		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82836350	82836350	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82836350G>T	ENST00000265077.3	+	8	8093	c.7528G>T	c.(7528-7530)Gtg>Ttg	p.V2510L	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V1523L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2510	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V2510L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTCAAATACAGTGTCATATGA	0.433																																					p.V2510L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7528T	5						.						63.0	63.0	63.0					5																	82836350		2203	4300	6503	82872106	SO:0001583	missense	1462	exon8			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7528G>T	5.37:g.82836350G>T	ENSP00000265077:p.Val2510Leu	Somatic		Capture	Illumina HiSeq	Phase_I	82872106	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	4.556	0.103284	0.08731	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.32272	1.46;1.46	6.08	-8.22	0.01037	.	2.145610	0.01690	N	0.026638	T	0.18509	0.0444	L	0.43152	1.355	0.09310	N	1	B;B	0.20261	0.043;0.025	B;B	0.20955	0.032;0.014	T	0.19712	-1.0297	10	0.10902	T	0.67	.	2.5866	0.04832	0.4822:0.1606:0.2204:0.1368	.	1523;2510	P13611-2;P13611	.;CSPG2_HUMAN	L	2510;1523	ENSP00000265077:V2510L;ENSP00000340062:V1523L	ENSP00000265077:V2510L	V	+	1	0	VCAN	82872106	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-1.052000	0.03503	-1.481000	0.01863	-0.218000	0.12543	GTG		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82836517	82836517	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82836517A>C	ENST00000265077.3	+	8	8260	c.7695A>C	c.(7693-7695)gaA>gaC	p.E2565D	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1578D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2565	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2565D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCATCCTTGAAATTCTACCTG	0.323																																					p.E2565D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7695C	5						.						55.0	59.0	57.0					5																	82836517		2203	4300	6503	82872273	SO:0001583	missense	1462	exon8			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7695A>C	5.37:g.82836517A>C	ENSP00000265077:p.Glu2565Asp	Somatic		Capture	Illumina HiSeq	Phase_I	82872273	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246691	0.39697	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.40756	1.02;1.02	6.04	2.13	0.27403	.	0.088415	0.49305	N	0.000141	T	0.37404	0.1002	M	0.66939	2.045	0.80722	D	1	B;B	0.29115	0.233;0.149	B;B	0.29598	0.104;0.048	T	0.11155	-1.0599	10	0.44086	T	0.13	.	7.0978	0.25319	0.6075:0.1349:0.0:0.2577	.	1578;2565	P13611-2;P13611	.;CSPG2_HUMAN	D	2565;1578	ENSP00000265077:E2565D;ENSP00000340062:E1578D	ENSP00000265077:E2565D	E	+	3	2	VCAN	82872273	0.991000	0.36638	0.963000	0.40424	0.985000	0.73830	0.937000	0.28951	0.117000	0.18138	0.460000	0.39030	GAA		0.323	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82849249	82849249	+	Missense_Mutation	SNP	G	G	A	rs373863261		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:82849249G>A	ENST00000265077.3	+	11	10125	c.9560G>A	c.(9559-9561)cGa>cAa	p.R3187Q	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.R446Q|VCAN_ENST00000512590.2_Missense_Mutation_p.R1385Q|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.R1433Q|VCAN_ENST00000343200.5_Missense_Mutation_p.R2200Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R3187Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTGCCCATCGACGCACATGG	0.483																																					p.R446Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	5						.						155.0	134.0	141.0					5																	82849249		2203	4300	6503	82885005	SO:0001583	missense	1462	exon9			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9560G>A	5.37:g.82849249G>A	ENSP00000265077:p.Arg3187Gln	Somatic		Capture	Illumina HiSeq	Phase_I	82885005	NM_001126336	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958900	0.97145	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.51477	D	0.000089	T	0.39886	0.1095	L	0.49778	1.585	0.51767	D	0.999938	D;D;D;D	0.89917	0.998;0.973;0.958;1.0	P;B;D;D	0.71870	0.776;0.12;0.927;0.975	T	0.02617	-1.1133	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1433;446;2200;3187	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	Q	3187;2200;1433;1385;446	ENSP00000265077:R3187Q;ENSP00000340062:R2200Q;ENSP00000342768:R1433Q;ENSP00000425959:R1385Q;ENSP00000421362:R446Q	ENSP00000265077:R3187Q	R	+	2	0	VCAN	82885005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.923000	0.87546	2.882000	0.98803	0.655000	0.94253	CGA		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
EDIL3	10085	broad.mit.edu	37	5	83239340	83239340	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:83239340G>A	ENST00000296591.5	-	11	1759	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	EDIL3_ENST00000380138.3_Silent_p.I437I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	447	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.I447I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGGGAGGGTCGATGACATTTT	0.448																																					p.I447I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1341T	5						.						149.0	139.0	142.0					5																	83239340		2203	4300	6503	83275096	SO:0001819	synonymous_variant	10085	exon11			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1341C>T	5.37:g.83239340G>A		Somatic		Capture	Illumina HiSeq	Phase_I	83275096	NM_005711	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																				0.448	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
RASA1	5921	broad.mit.edu	37	5	86564679	86564679	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:86564679G>A	ENST00000274376.6	+	1	975	c.411G>A	c.(409-411)ctG>ctA	p.L137L	RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	137	Poly-Pro.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.L137L(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTCCCCCTCTGCCCCCTCCCC	0.627																																					p.L137L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G411A	5						.						28.0	32.0	30.0					5																	86564679		2202	4300	6502	86600435	SO:0001819	synonymous_variant	5921	exon1				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.411G>A	5.37:g.86564679G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86600435	NM_002890	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	CCDS34200.1																																																																																				0.627	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
RASA1	5921	broad.mit.edu	37	5	86564705	86564705	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:86564705T>C	ENST00000274376.6	+	1	1001	c.437T>C	c.(436-438)tTg>tCg	p.L146S	RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	146					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.L146S(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCCCTTTGGGGGCGGGC	0.622																																					p.L146S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T437C	5						.						24.0	32.0	30.0					5																	86564705		2161	4250	6411	86600461	SO:0001583	missense	5921	exon1				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.437T>C	5.37:g.86564705T>C	ENSP00000274376:p.Leu146Ser	Somatic		Capture	Illumina HiSeq	Phase_I	86600461	NM_002890	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005632	0.35415	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	T	0.72505	-0.66	4.07	1.56	0.23342	.	1.710450	0.03565	N	0.227661	T	0.45498	0.1345	N	0.08118	0	0.80722	D	1	B;B	0.33694	0.421;0.036	B;B	0.29862	0.108;0.017	T	0.56577	-0.7956	10	0.07813	T	0.8	.	5.7669	0.18231	0.0:0.0988:0.1715:0.7297	.	179;146	Q59GK3;P20936	.;RASA1_HUMAN	S	146;179	ENSP00000274376:L146S	ENSP00000274376:L146S	L	+	2	0	RASA1	86600461	0.977000	0.34250	0.980000	0.43619	0.781000	0.44180	1.505000	0.35736	1.608000	0.50180	0.459000	0.35465	TTG		0.622	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
RASA1	5921	broad.mit.edu	37	5	86659263	86659263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:86659263G>T	ENST00000274376.6	+	11	2116	c.1552G>T	c.(1552-1554)Gga>Tga	p.G518*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.G352*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.G351*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.G341*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	518	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.G518*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAACCAAAAGGATTAATAGA	0.348																																					p.G518X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1552T	5						.						99.0	99.0	99.0					5																	86659263		2203	4300	6503	86695019	SO:0001587	stop_gained	5921	exon11				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1552G>T	5.37:g.86659263G>T	ENSP00000274376:p.Gly518*	Somatic		Capture	Illumina HiSeq	Phase_I	86695019	NM_002890	B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	44	10.802626	0.99470	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.5777	0.95452	0.0:0.0:1.0:0.0	.	.	.	.	X	518;551;341;351;352	.	ENSP00000274376:G518X	G	+	1	0	RASA1	86695019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.832000	0.99423	2.621000	0.88768	0.467000	0.42956	GGA		0.348	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
MEF2C	4208	broad.mit.edu	37	5	88018645	88018645	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:88018645C>A	ENST00000437473.2	-	11	1615	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	MEF2C_ENST00000514015.1_Splice_Site_p.D368Y|MEF2C_ENST00000514028.1_Missense_Mutation_p.D400Y|MEF2C_ENST00000340208.5_Missense_Mutation_p.D410Y|MEF2C_ENST00000506554.1_Missense_Mutation_p.E375D|MEF2C_ENST00000539796.1_Missense_Mutation_p.D344Y|MEF2C_ENST00000504921.2_Missense_Mutation_p.D400Y|MEF2C_ENST00000510942.1_Missense_Mutation_p.D392Y|MEF2C_ENST00000508569.1_Splice_Site_p.D360Y|MEF2C_ENST00000424173.2_Missense_Mutation_p.D390Y|CTC-467M3.1_ENST00000510274.1_RNA	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	400					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)	p.D390Y(1)|p.D400Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGGTACGGTCTCTAGGAGGA	0.527										HNSCC(66;0.2)																											p.D400Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1198T	5						.						123.0	124.0	123.0					5																	88018645		1975	4169	6144	88054401	SO:0001583	missense	4208	exon11			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1198G>T	5.37:g.88018645C>A	ENSP00000396219:p.Asp400Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	88054401	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.309697|3.309697	0.60414|0.60414	.|.	.|.	ENSG00000081189|ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796|ENST00000506554	T;T;T;T;T;T;T;T;T|T	0.69175|0.68331	-0.38;-0.37;-0.36;-0.36;-0.36;-0.37;-0.16;-0.16;0.06|-0.32	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78541|0.78541	0.4299|0.4299	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.989;1.0;1.0;1.0|.	P;D;D;D|.	0.87578|.	0.762;0.993;0.998;0.987|.	T|T	0.79971|0.79971	-0.1578|-0.1578	10|7	0.87932|0.87932	D|D	0|0	-9.4729|-9.4729	19.2105|19.2105	0.93753|0.93753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	390;410;400;392|.	C9JMZ0;F8W7V7;Q06413;Q06413-2|.	.;.;MEF2C_HUMAN;.|.	Y|D	410;390;400;400;400;392;360;368;344|375	ENSP00000340874:D410Y;ENSP00000389610:D390Y;ENSP00000421925:D400Y;ENSP00000426665:D400Y;ENSP00000396219:D400Y;ENSP00000422390:D392Y;ENSP00000423597:D360Y;ENSP00000424606:D368Y;ENSP00000441153:D344Y|ENSP00000425636:E375D	ENSP00000340874:D410Y|ENSP00000425636:E375D	D|E	-|-	1|3	0|2	MEF2C|MEF2C	88054401|88054401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.445000|7.445000	0.80570|0.80570	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAC|GAG		0.527	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
MEF2C	4208	broad.mit.edu	37	5	88047697	88047697	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:88047697C>T	ENST00000437473.2	-	5	983	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	MEF2C_ENST00000514015.1_Missense_Mutation_p.R189Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R189Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R207Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R189Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R141Q|MEF2C_ENST00000504921.2_Missense_Mutation_p.R189Q|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.R189Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R189Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R187Q	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	189					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)	p.R187Q(1)|p.R189Q(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACTTGGAGGTCGATGTGTTAC	0.473										HNSCC(66;0.2)																											p.R189Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G566A	5						.						290.0	282.0	284.0					5																	88047697		2025	4178	6203	88083453	SO:0001583	missense	4208	exon5			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.566G>A	5.37:g.88047697C>T	ENSP00000396219:p.Arg189Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88083453	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285600	0.95517	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87491	0.01;0.02;0.04;0.01;0.01;-0.04;-0.31;-0.31;-0.24;0.29;-2.26;-2.25	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.97;0.996;0.974;0.999	D	0.94117	0.7376	10	0.72032	D	0.01	-2.9988	19.8938	0.96942	0.0:1.0:0.0:0.0	.	187;207;189;189	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Q	207;187;189;189;189;189;189;189;189;141;187;187	ENSP00000340874:R207Q;ENSP00000389610:R187Q;ENSP00000421925:R189Q;ENSP00000426665:R189Q;ENSP00000396219:R189Q;ENSP00000422390:R189Q;ENSP00000425636:R189Q;ENSP00000423597:R189Q;ENSP00000424606:R189Q;ENSP00000441153:R141Q;ENSP00000423826:R187Q;ENSP00000423656:R187Q	ENSP00000340874:R207Q	R	-	2	0	MEF2C	88083453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.703000	0.92315	0.460000	0.39030	CGA		0.473	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
GPR98	84059	broad.mit.edu	37	5	90016023	90016023	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:90016023C>A	ENST00000405460.2	+	44	9702	c.9606C>A	c.(9604-9606)atC>atA	p.I3202I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3202					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I3202I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTCAGTATCTCTGCAGTTG	0.383																																					p.I3202I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9606A	5						.						47.0	46.0	46.0					5																	90016023		1797	4061	5858	90051779	SO:0001819	synonymous_variant	84059	exon44			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9606C>A	5.37:g.90016023C>A		Somatic		Capture	Illumina HiSeq	Phase_I	90051779	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882069	0.17467	.	.	ENSG00000164199	ENST00000509621	.	.	.	6.08	0.748	0.18376	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55704	-0.8099	4	.	.	.	.	11.8727	0.52529	0.0:0.6707:0.0:0.3293	.	.	.	.	Y	768	.	.	S	+	2	0	GPR98	90051779	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	0.697000	0.25556	0.169000	0.19679	-0.140000	0.14226	TCT		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90072290	90072290	+	Missense_Mutation	SNP	C	C	T	rs534226753		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:90072290C>T	ENST00000405460.2	+	61	12520	c.12424C>T	c.(12424-12426)Cgg>Tgg	p.R4142W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4142	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4142W(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATAATTATTCGGGGTGATAA	0.418																																					p.R4142W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C12424T	5						.						104.0	103.0	104.0					5																	90072290		1922	4129	6051	90108046	SO:0001583	missense	84059	exon61			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12424C>T	5.37:g.90072290C>T	ENSP00000384582:p.Arg4142Trp	Somatic		Capture	Illumina HiSeq	Phase_I	90108046	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268763	0.40095	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28069	1.63	5.27	4.37	0.52481	.	0.316290	0.31199	N	0.008073	T	0.33644	0.0870	L	0.50333	1.59	0.18873	N	0.999989	D	0.69078	0.997	P	0.50490	0.642	T	0.21449	-1.0245	10	0.62326	D	0.03	.	7.0323	0.24975	0.4295:0.491:0.0:0.0796	.	4142	Q8WXG9	GPR98_HUMAN	W	4142	ENSP00000384582:R4142W	ENSP00000296619:R4142W	R	+	1	2	GPR98	90108046	0.000000	0.05858	0.644000	0.29465	0.157000	0.22087	0.055000	0.14229	1.287000	0.44583	0.637000	0.83480	CGG		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90136810	90136810	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:90136810T>G	ENST00000405460.2	+	78	17115				GPR98_ENST00000425867.2_Intron	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGTAAGTTTTTGTGAATAT	0.303																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						40.0	39.0	39.0					5																	90136810		1848	4103	5951	90172566	SO:0001627	intron_variant	84059	.			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17019+8T>G	5.37:g.90136810T>G		Somatic		Capture	Illumina HiSeq	Phase_I	90172566	.	O75171|Q8TF58|Q9H0X5|Q9UL61	Intron	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.303	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90144517	90144517	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:90144517C>A	ENST00000405460.2	+	79	17179	c.17083C>A	c.(17083-17085)Ctt>Att	p.L5695I	GPR98_ENST00000425867.2_Missense_Mutation_p.L1356I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5695					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L5695I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATGAGATTCTTTGTTCTCT	0.358																																					p.L5695I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17083A	5						.						65.0	60.0	61.0					5																	90144517		1815	4077	5892	90180273	SO:0001583	missense	84059	exon79			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17083C>A	5.37:g.90144517C>A	ENSP00000384582:p.Leu5695Ile	Somatic		Capture	Illumina HiSeq	Phase_I	90180273	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954449	0.92726	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.46451	0.87;0.94	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.996	P;D;D	0.80764	0.838;0.994;0.922	T	0.60662	-0.7219	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1356;5695;1356	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5695;5695;1356	ENSP00000384582:L5695I;ENSP00000392618:L1356I	.	L	+	1	0	GPR98	90180273	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.802000	0.47916	2.824000	0.97209	0.655000	0.94253	CTT		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
MCTP1	79772	broad.mit.edu	37	5	94288938	94288938	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94288938C>A	ENST00000515393.1	-	3	965	c.966G>T	c.(964-966)gaG>gaT	p.E322D	MCTP1_ENST00000429576.2_Missense_Mutation_p.E101D|MCTP1_ENST00000505208.1_Missense_Mutation_p.E101D|MCTP1_ENST00000312216.8_Missense_Mutation_p.E101D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	322	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E322D(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATACAATGGCTCCCTAAGAT	0.358																																					p.E322D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G966T	5						.						95.0	87.0	90.0					5																	94288938		2203	4300	6503	94314694	SO:0001583	missense	79772	exon3				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.966G>T	5.37:g.94288938C>A	ENSP00000424126:p.Glu322Asp	Somatic		Capture	Illumina HiSeq	Phase_I	94314694	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.960770|1.960770	0.34565|0.34565	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000503301|ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780;ENST00000510732	.|T;T;T;T;T;T;T;T	.|0.69561	.|-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.41	5.28|5.28	-0.0246|-0.0246	0.13938|0.13938	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.110120	.|0.64402	.|D	.|0.000011	T|T	0.46639|0.46639	0.1403|0.1403	N|N	0.12920|0.12920	0.275|0.275	0.49130|0.49130	D|D	0.999759|0.999759	.|B;B;B	.|0.23806	.|0.091;0.025;0.003	.|B;B;B	.|0.38803	.|0.282;0.023;0.017	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.18276	.|T	.|0.48	-19.071|-19.071	4.6957|4.6957	0.12802|0.12802	0.1461:0.4105:0.0:0.4434|0.1461:0.4105:0.0:0.4434	.|.	.|322;101;101	.|Q6DN14;Q6DN14-3;Q6DN14-2	.|MCTP1_HUMAN;.;.	S|D	131|322;101;101;101;101;63;83;82;116	.|ENSP00000424126:E322D;ENSP00000391639:E101D;ENSP00000308957:E101D;ENSP00000423410:E101D;ENSP00000426438:E101D;ENSP00000424936:E83D;ENSP00000421543:E82D;ENSP00000422219:E116D	.|ENSP00000308957:E101D	A|E	-|-	1|3	0|2	MCTP1|MCTP1	94314694|94314694	0.964000|0.964000	0.33143|0.33143	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	0.054000|0.054000	0.14205|0.14205	0.280000|0.280000	0.22209|0.22209	0.460000|0.460000	0.39030|0.39030	GCC|GAG		0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
MCTP1	79772	broad.mit.edu	37	5	94289034	94289034	+	Silent	SNP	G	G	A	rs528783201		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94289034G>A	ENST00000515393.1	-	3	869	c.870C>T	c.(868-870)atC>atT	p.I290I	MCTP1_ENST00000429576.2_Silent_p.I69I|MCTP1_ENST00000505208.1_Silent_p.I69I|MCTP1_ENST00000312216.8_Silent_p.I69I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	290	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.I290I(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTTTCCTCCGATTTTAAACT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15344	0.0		0.001	False		,,,				2504	0.0				p.I290I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	5						.						106.0	93.0	97.0					5																	94289034		2202	4300	6502	94314790	SO:0001819	synonymous_variant	79772	exon3				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.870C>T	5.37:g.94289034G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94314790	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	8.310	0.821954	0.16678	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.58	3.03	0.35002	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	-8.401	9.7349	0.40382	0.8579:0.0:0.1421:0.0	.	.	.	.	W	99	.	.	R	-	1	2	MCTP1	94314790	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.125000	0.42016	0.394000	0.25230	-0.691000	0.03719	CGG		0.373	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
FAM81B	153643	broad.mit.edu	37	5	94764394	94764394	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94764394C>T	ENST00000283357.5	+	6	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	248						nucleus (GO:0005634)		p.F248F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTCAAGAATTCGTGCCCGCCC	0.408																																					p.F248F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	5						.						126.0	116.0	119.0					5																	94764394		1847	4093	5940	94790150	SO:0001819	synonymous_variant	153643	exon6				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.744C>T	5.37:g.94764394C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94790150	NM_152548		Silent	SNP	ENST00000283357.5	37	CCDS43341.1																																																																																				0.408	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
TTC37	9652	broad.mit.edu	37	5	94805477	94805477	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94805477T>G	ENST00000358746.2	-	41	4795					NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.?(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATGAAGATTCTTCATACCTTG	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						66.0	74.0	71.0					5																	94805477		2203	4300	6503	94831233	SO:0001627	intron_variant	9652	.			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4496+6A>C	5.37:g.94805477T>G		Somatic		Capture	Illumina HiSeq	Phase_I	94831233	.	O15077|Q6PJI3	Intron	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																				0.338	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
TTC37	9652	broad.mit.edu	37	5	94820541	94820541	+	Missense_Mutation	SNP	C	C	T	rs74664147	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94820541C>T	ENST00000358746.2	-	38	4238	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1314						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.E1314K(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGAATTTTTCGTCTTTAACT	0.353													T|||	14	0.00279553	0.0045	0.0	5008	,	,		18689	0.006		0.0	False		,,,				2504	0.002				p.E1314K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3940A	5						.	T	LYS/GLU	27,4377	822.2+/-416.4	0,27,2175	99.0	100.0	100.0		3940	5.9	0.9	5	dbSNP_131	100	0,8598		0,0,4299	yes	missense	TTC37	NM_014639.3	56	0,27,6474	TT,TC,CC		0.0,0.6131,0.2077	benign	1314/1565	94820541	27,12975	2202	4299	6501	94846297	SO:0001583	missense	9652	exon38			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3940G>A	5.37:g.94820541C>T	ENSP00000351596:p.Glu1314Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94846297	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	T	2.151	-0.394590	0.04899	0.006131	0.0	ENSG00000198677	ENST00000358746	T	0.75477	-0.94	5.86	5.86	0.93980	.	0.189493	0.56097	N	0.000032	T	0.39064	0.1064	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21008	-1.0258	10	0.09084	T	0.74	.	12.0857	0.53695	0.0:0.0669:0.0:0.9331	.	1314	Q6PGP7	TTC37_HUMAN	K	1314	ENSP00000351596:E1314K	ENSP00000351596:E1314K	E	-	1	0	TTC37	94846297	1.000000	0.71417	0.922000	0.36590	0.176000	0.22953	2.904000	0.48719	1.047000	0.40274	-0.269000	0.10298	GAA		0.353	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
SPATA9	83890	broad.mit.edu	37	5	94999665	94999665	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:94999665T>G	ENST00000274432.8	-	4	607	c.466A>C	c.(466-468)Att>Ctt	p.I156L	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I156L(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ACCAAATAAATTAGTGCTGCA	0.284																																					p.I156L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A466C	5						.						24.0	25.0	24.0					5																	94999665		2199	4279	6478	95025421	SO:0001583	missense	83890	exon4			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.466A>C	5.37:g.94999665T>G	ENSP00000274432:p.Ile156Leu	Somatic		Capture	Illumina HiSeq	Phase_I	95025421	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233098	0.58777	.	.	ENSG00000145757	ENST00000274432	T	0.28454	1.61	5.57	4.41	0.53225	.	0.000000	0.56097	D	0.000040	T	0.25568	0.0622	L	0.27053	0.805	0.80722	D	1	P	0.40332	0.713	B	0.43575	0.424	T	0.04153	-1.0973	10	0.87932	D	0	-12.9639	9.1202	0.36782	0.0:0.0842:0.0:0.9158	.	156	Q9BWV2	SPAT9_HUMAN	L	156	ENSP00000274432:I156L	ENSP00000274432:I156L	I	-	1	0	SPATA9	95025421	1.000000	0.71417	0.907000	0.35723	0.995000	0.86356	4.253000	0.58791	0.964000	0.38108	0.533000	0.62120	ATT		0.284	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
ELL2	22936	broad.mit.edu	37	5	95255133	95255133	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:95255133G>A	ENST00000237853.4	-	3	661	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ELL2_ENST00000431061.2_Silent_p.F104F|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	104					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.F104F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTTACCTGGAGAATGTTTGCT	0.333																																					p.F104F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	5						.						84.0	91.0	89.0					5																	95255133		2203	4300	6503	95280889	SO:0001819	synonymous_variant	22936	exon3			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.312C>T	5.37:g.95255133G>A		Somatic		Capture	Illumina HiSeq	Phase_I	95280889	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																				0.333	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
PCSK1	5122	broad.mit.edu	37	5	95759067	95759067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:95759067C>T	ENST00000311106.3	-	4	730	c.493G>A	c.(493-495)Gta>Ata	p.V165I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.V118I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	165	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.V165I(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCATCCAGTACGGTGATAACA	0.493																																					p.V118I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	5						.						191.0	138.0	156.0					5																	95759067		2203	4300	6503	95784823	SO:0001583	missense	5122	exon4				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.493G>A	5.37:g.95759067C>T	ENSP00000308024:p.Val165Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95784823	NM_001177875	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792018	0.50102	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89343	-2.5;-2.5	6.03	6.03	0.97812	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	N	0.11724	0.165	0.58432	D	0.999999	D	0.55605	0.972	P	0.49708	0.62	T	0.79455	-0.1796	10	0.02654	T	1	-6.9442	20.1519	0.98089	0.0:1.0:0.0:0.0	.	165	P29120	NEC1_HUMAN	I	165;118	ENSP00000308024:V165I;ENSP00000421600:V118I	ENSP00000308024:V165I	V	-	1	0	PCSK1	95784823	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	5.779000	0.68948	2.861000	0.98227	0.655000	0.94253	GTA		0.493	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
ERAP1	51752	broad.mit.edu	37	5	96139113	96139113	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:96139113C>T	ENST00000443439.2	-	2	583	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ERAP1_ENST00000296754.3_Missense_Mutation_p.E173K|CTD-2260A17.3_ENST00000606346.1_RNA|CTD-2260A17.3_ENST00000606656.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	173					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.E173K(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TACCTCAGTTCCCCTTCCTTG	0.403																																					p.E173K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	5						.						61.0	64.0	63.0					5																	96139113		2203	4300	6503	96164869	SO:0001583	missense	51752	exon2			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.517G>A	5.37:g.96139113C>T	ENSP00000406304:p.Glu173Lys	Somatic		Capture	Illumina HiSeq	Phase_I	96164869	NM_001040458	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232650	0.79688	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02656	4.21;4.21	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.097993	0.64402	D	0.000002	T	0.06645	0.0170	L	0.49699	1.58	0.52501	D	0.999959	P;P	0.36354	0.549;0.494	B;B	0.42138	0.377;0.343	T	0.41998	-0.9477	10	0.35671	T	0.21	.	19.0105	0.92871	0.0:1.0:0.0:0.0	.	173;173	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	K	173	ENSP00000296754:E173K;ENSP00000406304:E173K	ENSP00000296754:E173K	E	-	1	0	ERAP1	96164869	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.850000	0.62889	2.589000	0.87451	0.561000	0.74099	GAA		0.403	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
LNPEP	4012	broad.mit.edu	37	5	96358010	96358010	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:96358010G>A	ENST00000231368.5	+	14	3075	c.2383G>A	c.(2383-2385)Gta>Ata	p.V795I	LNPEP_ENST00000395770.3_Missense_Mutation_p.V781I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	795					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V795I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTAGACTAGGGTATTTAAATT	0.403																																					p.V795I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2383A	5						.						54.0	55.0	55.0					5																	96358010		2203	4300	6503	96383766	SO:0001583	missense	4012	exon14			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2383G>A	5.37:g.96358010G>A	ENSP00000231368:p.Val795Ile	Somatic		Capture	Illumina HiSeq	Phase_I	96383766	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.764075	0.00651	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05717	3.4;3.4	5.6	1.63	0.23807	.	0.430508	0.29106	N	0.013138	T	0.01320	0.0043	N	0.00399	-1.545	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.47005	-0.9150	10	0.13470	T	0.59	.	3.6952	0.08361	0.3681:0.1822:0.4496:0.0	.	795	Q9UIQ6	LCAP_HUMAN	I	795;781	ENSP00000231368:V795I;ENSP00000379117:V781I	ENSP00000231368:V795I	V	+	1	0	LNPEP	96383766	0.632000	0.27172	0.867000	0.34043	0.144000	0.21451	0.125000	0.15749	0.825000	0.34637	0.655000	0.94253	GTA		0.403	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
LIX1	167410	broad.mit.edu	37	5	96460244	96460244	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:96460244A>G	ENST00000274382.4	-	2	467	c.172T>C	c.(172-174)Tca>Cca	p.S58P	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	58								p.S58P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCTGGCAGTGACTCATAGACC	0.488																																					p.S58P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T172C	5						.						110.0	94.0	99.0					5																	96460244		2203	4300	6503	96486000	SO:0001583	missense	167410	exon2				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.172T>C	5.37:g.96460244A>G	ENSP00000274382:p.Ser58Pro	Somatic		Capture	Illumina HiSeq	Phase_I	96486000	NM_153234	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056012	0.55325	.	.	ENSG00000145721	ENST00000274382;ENST00000512378	T	0.49432	0.78	5.46	5.46	0.80206	.	0.118877	0.64402	D	0.000014	T	0.59865	0.2225	L	0.54323	1.7	0.51482	D	0.999928	D	0.69078	0.997	P	0.59288	0.855	T	0.59936	-0.7360	10	0.45353	T	0.12	-9.5692	15.4926	0.75619	1.0:0.0:0.0:0.0	.	58	Q8N485	LIX1_HUMAN	P	58;34	ENSP00000274382:S58P	ENSP00000274382:S58P	S	-	1	0	LIX1	96486000	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	2.707000	0.47143	2.199000	0.70637	0.402000	0.26972	TCA		0.488	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
FAM174A	345757	broad.mit.edu	37	5	99897787	99897787	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:99897787G>T	ENST00000312637.4	+	2	690	c.464G>T	c.(463-465)aGa>aTa	p.R155I	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	155						integral component of membrane (GO:0016021)		p.R155I(1)|p.R155T(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGACTAGGAGATATGGAGTT	0.294																																					p.R155I												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G464T	5						.						135.0	129.0	131.0					5																	99897787		2203	4300	6503	99925686	SO:0001583	missense	345757	exon2			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.464G>T	5.37:g.99897787G>T	ENSP00000307954:p.Arg155Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99925686	NM_198507	A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	37	CCDS4090.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609222	0.66558	.	.	ENSG00000174132	ENST00000312637	T	0.52295	0.67	5.21	3.41	0.39046	.	0.099482	0.42964	D	0.000628	T	0.60064	0.2240	M	0.65498	2.005	0.47905	D	0.999546	D	0.76494	0.999	D	0.75020	0.985	T	0.59107	-0.7516	9	.	.	.	-8.3357	6.4999	0.22164	0.2784:0.0:0.7216:0.0	.	155	Q8TBP5	F174A_HUMAN	I	155	ENSP00000307954:R155I	.	R	+	2	0	FAM174A	99925686	1.000000	0.71417	0.634000	0.29324	0.953000	0.61014	2.829000	0.48128	1.200000	0.43188	0.467000	0.42956	AGA		0.294	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507	
SLCO6A1	133482	broad.mit.edu	37	5	101774472	101774472	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:101774472T>A	ENST00000506729.1	-	7	1303				SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379807.3_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAATCTGaaataaaaataagt	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						15.0	17.0	16.0					5																	101774472		2117	4250	6367	101802371	SO:0001627	intron_variant	133482	.			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1132-7A>T	5.37:g.101774472T>A		Somatic		Capture	Illumina HiSeq	Phase_I	101802371	.	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Intron	SNP	ENST00000506729.1	37	CCDS34206.1																																																																																				0.289	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PJA2	9867	broad.mit.edu	37	5	108714956	108714956	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:108714956C>T	ENST00000361189.2	-	4	472		c.e4-1		PJA2_ENST00000361557.3_Splice_Site|PJA2_ENST00000511624.1_Splice_Site	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GGACTGGAACCTTCATAAAAA	0.289																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						27.0	28.0	28.0					5																	108714956		2194	4297	6491	108742855	SO:0001630	splice_region_variant	9867	.			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.233-1G>A	5.37:g.108714956C>T		Somatic		Capture	Illumina HiSeq	Phase_I	108742855	.	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Splice_Site	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470865	0.43942	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2242	0.86965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PJA2	108742855	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.440000	0.52886	2.729000	0.93468	0.650000	0.86243	.		0.289	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819	Intron
CAMK4	814	broad.mit.edu	37	5	110712548	110712548	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:110712548C>A	ENST00000282356.4	+	4	701				CAMK4_ENST00000512453.1_Intron	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTTTTATATCTTTCCCTAGA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						58.0	69.0	65.0					5																	110712548		2199	4300	6499	110740447	SO:0001627	intron_variant	814	.			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.304-10C>A	5.37:g.110712548C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110740447	.	D3DSZ7	Intron	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																				0.338	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
DTWD2	285605	broad.mit.edu	37	5	118310284	118310284	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:118310284T>G	ENST00000510708.1	-	1	252				DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000304058.4_Intron	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2											breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AAAAACAATCTTATTCCGAGC	0.318																																					.												.	.	0			.	5						.						28.0	25.0	26.0					5																	118310284		1564	3553	5117	118338183	SO:0001627	intron_variant	285605	.				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.218+13704A>C	5.37:g.118310284T>G		Somatic		Capture	Illumina HiSeq	Phase_I	118338183	.		RNA	SNP	ENST00000510708.1	37	CCDS34216.1																																																																																				0.318	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666	
DMXL1	1657	broad.mit.edu	37	5	118479525	118479525	+	Intron	SNP	A	A	T	rs184928450	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:118479525A>T	ENST00000311085.8	+	14	2456				DMXL1_ENST00000539542.1_Intron	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		aaatttttttaaaaaaaaCAG	0.289													A|||	9	0.00179712	0.0068	0.0	5008	,	,		12795	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	5						.						41.0	46.0	45.0					5																	118479525		2190	4287	6477	118507424	SO:0001627	intron_variant	1657	.			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2377-11A>T	5.37:g.118479525A>T		Somatic		Capture	Illumina HiSeq	Phase_I	118507424	.		Intron	SNP	ENST00000311085.8	37	CCDS4125.1																																																																																				0.289	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
P4HA2	8974	broad.mit.edu	37	5	131539541	131539541	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:131539541C>T	ENST00000401867.1	-	11	1720		c.e11-1		P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000379100.2_Splice_Site			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II						peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGCCAGGAGCTGGGCAAAAA	0.512																																					.	Esophageal Squamous(68;117 1135 17362 19256 34242)											.	.	1	Unknown(1)	large_intestine(1)	.	5						.						47.0	46.0	46.0					5																	131539541		2203	4300	6503	131567440	SO:0001630	splice_region_variant	8974	.			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1152-1G>A	5.37:g.131539541C>T		Somatic		Capture	Illumina HiSeq	Phase_I	131567440	.	D3DQ85|D3DQ86|Q8WWN0	Splice_Site	SNP	ENST00000401867.1	37	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048268	0.75846	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7167	0.96124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA2	131567440	1.000000	0.71417	0.996000	0.52242	0.659000	0.38960	7.441000	0.80485	2.667000	0.90743	0.655000	0.94253	.		0.512	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199	Intron
HSPA4	3308	broad.mit.edu	37	5	132439728	132439728	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:132439728G>A	ENST00000304858.2	+	18	2608					NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4						chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTAATTTAAGACTTTTTTTT	0.333																																					.	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Unknown(1)	large_intestine(1)	.	5						.						58.0	59.0	59.0					5																	132439728		2203	4300	6503	132467627	SO:0001627	intron_variant	3308	.			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2319+10G>A	5.37:g.132439728G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132467627	.	O95756|Q2TAL4|Q9BUK9	Intron	SNP	ENST00000304858.2	37	CCDS4166.1																																																																																				0.333	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
FSTL4	23105	broad.mit.edu	37	5	132902922	132902922	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:132902922G>T	ENST00000265342.7	-	3	376					NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAAGAAAAGAAAGACTTTG	0.343																																					.												.	.	0			.	5						.						82.0	86.0	85.0					5																	132902922		2203	4300	6503	132930821	SO:0001627	intron_variant	23105	.			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.127-12C>A	5.37:g.132902922G>T		Somatic		Capture	Illumina HiSeq	Phase_I	132930821	.	Q8TBU0|Q9UPU1	Intron	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																				0.343	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
SMAD5	4090	broad.mit.edu	37	5	135499087	135499087	+	Intron	SNP	G	G	T	rs375714326		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:135499087G>T	ENST00000514641.2	+	5	1137				SMAD5_ENST00000545279.1_Intron|SMAD5_ENST00000545620.1_Intron			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGGTAAGAGAAGTACTCAC	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.	G	,,	1,3687		0,1,1843	89.0	84.0	86.0		,,	3.6	0.5	5		86	0,8196		0,0,4098	no	intron,intron,intron	SMAD5	NM_001001419.1,NM_001001420.1,NM_005903.5	,,	0,1,5941	TT,TG,GG		0.0,0.0271,0.0084	,,	,,	135499087	1,11883	1844	4098	5942	135526986	SO:0001627	intron_variant	4090	.			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.1137+7G>T	5.37:g.135499087G>T		Somatic		Capture	Illumina HiSeq	Phase_I	135526986	.	O14688|Q15798|Q9UQA1	Intron	SNP	ENST00000514641.2	37																																																																																					0.328	SMAD5-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000372096.2	NM_005903	
CDC23	8697	broad.mit.edu	37	5	137528191	137528191	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137528191A>C	ENST00000394886.2	-	10	1197		c.e10+1			NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATAGATAATCACCTATAAGCC	0.463																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						112.0	100.0	104.0					5																	137528191		2203	4300	6503	137556090	SO:0001630	splice_region_variant	8697	.			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1166+1T>G	5.37:g.137528191A>C		Somatic		Capture	Illumina HiSeq	Phase_I	137556090	.	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Splice_Site	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897160	0.72639	.	.	ENSG00000094880	ENST00000394886	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC23	137556090	1.000000	0.71417	0.998000	0.56505	0.748000	0.42578	9.041000	0.93788	2.279000	0.76181	0.533000	0.62120	.		0.463	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		Intron
CDC23	8697	broad.mit.edu	37	5	137537797	137537797	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137537797C>T	ENST00000394886.2	-	4	446					NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAAAAAATTCGTACCTAAGC	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						81.0	82.0	81.0					5																	137537797		2201	4300	6501	137565696	SO:0001627	intron_variant	8697	.			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.415+4G>A	5.37:g.137537797C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137565696	.	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Intron	SNP	ENST00000394886.2	37	CCDS4200.2																																																																																				0.348	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
HSPA9	3313	broad.mit.edu	37	5	137892289	137892289	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:137892289A>C	ENST00000297185.3	-	16	1947				SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.?(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCACTTAAAAAAAGAAAACAA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						59.0	61.0	60.0					5																	137892289		2203	4300	6503	137920188	SO:0001627	intron_variant	3313	.			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1822-8T>G	5.37:g.137892289A>C		Somatic		Capture	Illumina HiSeq	Phase_I	137920188	.	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Intron	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																				0.358	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134	
HARS	3035	broad.mit.edu	37	5	140070432	140070432	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140070432G>T	ENST00000504156.1	-	2	900				HARS2_ENST00000435019.2_5'Flank|HARS_ENST00000415192.2_Intron|HARS2_ENST00000448069.2_5'Flank|HARS_ENST00000448240.1_Intron|HARS_ENST00000438307.2_Intron|HARS2_ENST00000508522.1_5'Flank|HARS2_ENST00000432671.2_5'Flank|HARS_ENST00000457527.2_Intron|HARS2_ENST00000437649.2_5'Flank|HARS_ENST00000431330.2_Intron|HARS2_ENST00000230771.3_5'Flank|HARS_ENST00000307633.3_Intron	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase						gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTACAGGAATGATATTACCTT	0.498																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	5						.						74.0	78.0	77.0					5																	140070432		2203	4300	6503	140050616	SO:0001627	intron_variant	3035	.			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.180+7C>A	5.37:g.140070432G>T		Somatic		Capture	Illumina HiSeq	Phase_I	140050616	.	B4DHQ1|B4DY73|D6REN6|J3KNE5	Intron	SNP	ENST00000504156.1	37	CCDS4237.1																																																																																				0.498	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109	
PCDHGB3	56102	broad.mit.edu	37	5	140799862	140799862	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:140799862T>G	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATGTATTTAATCCTTTT	0.294																																					.												.	.	0			.	5						.						29.0	29.0	29.0					5																	140799862		1789	4060	5849	140780046	SO:0001627	intron_variant	56099	.			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+47486T>G	5.37:g.140799862T>G		Somatic		Capture	Illumina HiSeq	Phase_I	140780046	.	A7E229|Q9Y5C7	Intron	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.294	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
ARAP3	64411	broad.mit.edu	37	5	141044951	141044951	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:141044951G>T	ENST00000239440.4	-	18	2638				ARAP3_ENST00000513878.1_Intron|ARAP3_ENST00000512390.1_Intron|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGGGAGGAGAATCAGTGGA	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						134.0	141.0	138.0					5																	141044951		2203	4300	6503	141025135	SO:0001627	intron_variant	64411	.			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2573-10C>A	5.37:g.141044951G>T		Somatic		Capture	Illumina HiSeq	Phase_I	141025135	.	B4DIT1|D3DQE3	Intron	SNP	ENST00000239440.4	37	CCDS4266.1																																																																																				0.438	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
LARS	51520	broad.mit.edu	37	5	145519759	145519759	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:145519759A>C	ENST00000394434.2	-	21	2315				LARS_ENST00000545646.1_Intron|LARS_ENST00000510191.1_Intron|LARS_ENST00000274562.9_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGATGCAATAAGCCTTACCTT	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						72.0	72.0	72.0					5																	145519759		2203	4300	6503	145499952	SO:0001627	intron_variant	51520	.			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2148+7T>G	5.37:g.145519759A>C		Somatic		Capture	Illumina HiSeq	Phase_I	145499952	.	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Intron	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																				0.343	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
ABLIM3	22885	broad.mit.edu	37	5	148577971	148577971	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:148577971T>G	ENST00000506113.1	+	3	817				ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Intron|ABLIM3_ENST00000309868.7_Intron|ABLIM3_ENST00000504238.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGAGTGGGCGACCAG	0.617																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						32.0	30.0	31.0					5																	148577971		2203	4300	6503	148558164	SO:0001627	intron_variant	22885	.			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.335+6T>G	5.37:g.148577971T>G		Somatic		Capture	Illumina HiSeq	Phase_I	148558164	.	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Intron	SNP	ENST00000506113.1	37	CCDS4294.1																																																																																				0.617	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
TCOF1	6949	broad.mit.edu	37	5	149775833	149775833	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:149775833C>A	ENST00000504761.2	+	24	3781				TCOF1_ENST00000451292.1_Intron|TCOF1_ENST00000445265.2_Intron|TCOF1_ENST00000377797.3_Intron|TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000513346.1_Intron			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1						skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCACATTCTCTCTCCATA	0.552																																					.												.	.	0			.	5						.						63.0	71.0	68.0					5																	149775833		2203	4300	6503	149756026	SO:0001627	intron_variant	6949	.				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3782-12C>A	5.37:g.149775833C>A		Somatic		Capture	Illumina HiSeq	Phase_I	149756026	.	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Intron	SNP	ENST00000504761.2	37	CCDS54936.1																																																																																				0.552	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	
EBF1	1879	broad.mit.edu	37	5	158126116	158126116	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:158126116C>A	ENST00000313708.6	-	0	2061				EBF1_ENST00000380654.4_3'UTR|EBF1_ENST00000517373.1_3'UTR|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGGCAATTCTTTCACATAG	0.368			T	HMGA2	lipoma																																.			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	0			.	5						.						89.0	92.0	91.0					5																	158126116		2203	4300	6503	158058694	SO:0001624	3_prime_UTR_variant	1879	.			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.*3G>T	5.37:g.158126116C>A		Somatic		Capture	Illumina HiSeq	Phase_I	158058694	.	Q8IW11	3'UTR	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.368	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
TTC1	7265	broad.mit.edu	37	5	159470132	159470132	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:159470132C>A	ENST00000231238.5	+	5	614				TTC1_ENST00000520274.1_Intron|TTC1_ENST00000522793.1_Intron	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1						protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TACTGTTTTTCTTTTTAGGAC	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						95.0	96.0	96.0					5																	159470132		2203	4300	6503	159402710	SO:0001627	intron_variant	7265	.			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.505-8C>A	5.37:g.159470132C>A		Somatic		Capture	Illumina HiSeq	Phase_I	159402710	.	B2RCT2|D3DQJ8|Q9BVT3	Intron	SNP	ENST00000231238.5	37	CCDS4348.1																																																																																				0.343	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
PTTG1	9232	broad.mit.edu	37	5	159849422	159849422	+	Intron	SNP	A	A	C	rs372935262		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:159849422A>C	ENST00000393964.1	+	1	494				PTTG1_ENST00000352433.5_Intron|PTTG1_ENST00000519287.1_Intron|PTTG1_ENST00000520452.1_Intron	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TAAGTATACAAGGCTGCAGTC	0.488																																					.												.	.	0			.	5						.						57.0	58.0	58.0					5																	159849422		2203	4300	6503	159782000	SO:0001627	intron_variant	9232	.			AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.91+12A>C	5.37:g.159849422A>C		Somatic		Capture	Illumina HiSeq	Phase_I	159782000	.		Intron	SNP	ENST00000393964.1	37	CCDS4353.1																																																																																				0.488	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219	
GLRXP3	100132510	broad.mit.edu	37	5	161178514	161178514	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161178514G>T								GABRA6 (48916 upstream) : GABRA1 (95682 downstream)														p.V87V(1)									GTTGCATAGAGACTAGATCAC	0.507																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	5						.						160.0	149.0	153.0					5																	161178514		876	1991	2867	161111092	SO:0001628	intergenic_variant	0	.																															5.37:g.161178514G>T		Somatic		Capture	Illumina HiSeq	Phase_I	161111092	.		IGR	SNP		37																																																																																				0	0.507								
GABRA1	2554	broad.mit.edu	37	5	161277816	161277816	+	De_novo_Start_InFrame	SNP	G	G	A	rs376266596		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161277816G>A	ENST00000428797.2	+	0	355				GABRA1_ENST00000023897.6_De_novo_Start_InFrame|GABRA1_ENST00000420560.1_De_novo_Start_InFrame|GABRA1_ENST00000393943.4_De_novo_Start_InFrame|GABRA1_ENST00000437025.2_De_novo_Start_InFrame|GABRA1_ENST00000444819.1_De_novo_Start_InFrame	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCCAGCCCGCGATGAGGAAAA	0.473																																					.												.	.	0			.	5						.	G	,,,,,,	0,4406		0,0,2203	104.0	101.0	102.0		,,,,,,	-2.7	0.8	5		102	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5	GABRA1	NM_000806.5,NM_001127643.1,NM_001127644.1,NM_001127645.1,NM_001127646.1,NM_001127647.1,NM_001127648.1	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,,,	161277816	1,13005	2203	4300	6503	161210394			2554	.				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586		5.37:g.161277816G>A		Somatic		Capture	Illumina HiSeq	Phase_I	161210394	.	D3DQK6|Q8N629	5'UTR	SNP	ENST00000428797.2	37	CCDS4357.1																																																																																				0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GABRG2	2566	broad.mit.edu	37	5	161579416	161579416	+	Intron	SNP	G	G	T	rs377711860		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:161579416G>T	ENST00000361925.4	+	9	1348				GABRG2_ENST00000356592.3_Intron|GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Intron			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAGTTGCATAGAAATTTACCA	0.289																																					.												.	.	0			.	5						.						77.0	82.0	81.0					5																	161579416		875	1990	2865	161511994	SO:0001627	intron_variant	2566	.				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1129-683G>T	5.37:g.161579416G>T		Somatic		Capture	Illumina HiSeq	Phase_I	161511994	.	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Intron	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.289	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
PANK3	79646	broad.mit.edu	37	5	167986174	167986174	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:167986174G>T	ENST00000239231.6	-	6	1253				MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TAAAAGAAAAGAACAAAGAAA	0.254																																					.												.	.	0			.	5						.						25.0	25.0	25.0					5																	167986174		2190	4292	6482	167918752	SO:0001627	intron_variant	79646	.			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.937-12C>A	5.37:g.167986174G>T		Somatic		Capture	Illumina HiSeq	Phase_I	167918752	.	D3DQL1|Q53FJ9|Q7RTX4	Intron	SNP	ENST00000239231.6	37	CCDS4368.1																																																																																				0.254	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
DOCK2	1794	broad.mit.edu	37	5	169496135	169496135	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:169496135C>A	ENST00000256935.8	+	46	4724				DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000520908.1_Intron	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATCTGTCCTCCCCAGGCCTT	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						68.0	53.0	58.0					5																	169496135		2203	4300	6503	169428713	SO:0001627	intron_variant	1794	.			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4645-6C>A	5.37:g.169496135C>A		Somatic		Capture	Illumina HiSeq	Phase_I	169428713	.	Q2M3I0|Q96AK7	Intron	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
SIMC1	375484	broad.mit.edu	37	5	175716702	175716702	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:175716702C>T	ENST00000443967.1	+	4	525	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R59C			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	40							SUMO polymer binding (GO:0032184)	p.R40C(1)									GACAAAAGATCGCAGTGGACT	0.423																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	5						.						72.0	67.0	69.0					5																	175716702		2203	4300	6503	175649308	SO:0001583	missense	375484	.			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.118C>T	5.37:g.175716702C>T	ENSP00000406571:p.Arg40Cys	Somatic		Capture	Illumina HiSeq	Phase_I	175649308	.	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	C	11.80	1.746947	0.30955	.	.	ENSG00000170085	ENST00000443967;ENST00000429602	T;T	0.36699	1.99;1.24	4.55	3.68	0.42216	.	0.165377	0.29239	N	0.012734	T	0.26304	0.0642	.	.	.	0.22199	N	0.999298	B;B	0.25521	0.128;0.022	B;B	0.17722	0.019;0.005	T	0.21793	-1.0235	9	0.66056	D	0.02	-3.2062	8.3711	0.32415	0.0:0.8922:0.0:0.1078	.	59;40	B4DRM7;Q8NDZ2	.;CE025_HUMAN	C	40;59	ENSP00000406571:R40C;ENSP00000410552:R59C	ENSP00000410552:R59C	R	+	1	0	C5orf25	175649308	0.909000	0.30893	0.924000	0.36721	0.630000	0.37929	3.205000	0.51090	1.136000	0.42199	-0.335000	0.08231	CGC		0.423	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567	
SIMC1	375484	broad.mit.edu	37	5	175717758	175717758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:175717758C>T	ENST00000443967.1	+	4	1581	c.1174C>T	c.(1174-1176)Ctc>Ttc	p.L392F	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.L411F			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	392							SUMO polymer binding (GO:0032184)	p.L392F(1)									AGTTCCTTGGCTCTCTGTCAT	0.512																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	5						.						80.0	79.0	80.0					5																	175717758		2203	4297	6500	175650364	SO:0001583	missense	375484	.			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1174C>T	5.37:g.175717758C>T	ENSP00000406571:p.Leu392Phe	Somatic		Capture	Illumina HiSeq	Phase_I	175650364	.	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	C	17.72	3.458684	0.63401	.	.	ENSG00000170085	ENST00000443967;ENST00000429602	T;T	0.40476	1.83;1.03	4.54	3.64	0.41730	.	0.173927	0.27906	N	0.017368	T	0.46698	0.1406	.	.	.	0.27027	N	0.964339	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.962	T	0.27400	-1.0075	9	0.09590	T	0.72	-16.7251	9.6424	0.39846	0.0:0.768:0.232:0.0	.	411;392	B4DRM7;Q8NDZ2	.;CE025_HUMAN	F	392;411	ENSP00000406571:L392F;ENSP00000410552:L411F	ENSP00000410552:L411F	L	+	1	0	C5orf25	175650364	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.987000	0.29603	2.348000	0.79779	0.603000	0.83216	CTC		0.512	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567	
C5orf45	51149	broad.mit.edu	37	5	179268896	179268896	+	Intron	SNP	G	G	A	rs201261866		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179268896G>A	ENST00000292586.6	-	5	540				C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000518219.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000521333.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45											breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAACGGAGACGCACTTGGTAC	0.607																																					.												.	.	0			.	5						.	G	,	0,4406		0,0,2203	112.0	115.0	114.0		,	-7.8	0.0	5		114	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron	C5orf45	NM_001017987.2,NM_016175.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	179268896	1,13005	2203	4300	6503	179201502	SO:0001627	intron_variant	51149	.				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.449+10C>T	5.37:g.179268896G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179201502	.	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Intron	SNP	ENST00000292586.6	37	CCDS34319.1																																																																																				0.607	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175	
RASGEF1C	255426	broad.mit.edu	37	5	179529151	179529151	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179529151G>T	ENST00000393371.2	-	12	1600				RASGEF1C_ENST00000522500.1_Intron|RASGEF1C_ENST00000361132.4_Intron			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(1)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTAGACAGAAAATGAAGT	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						76.0	71.0	72.0					5																	179529151		2203	4300	6503	179461757	SO:0001627	intron_variant	255426	.			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1304-8C>A	5.37:g.179529151G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179461757	.	D3DWQ7|Q7Z4T0|Q8NA49	Intron	SNP	ENST00000393371.2	37	CCDS4452.1																																																																																				0.408	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062	
MAPK9	5601	broad.mit.edu	37	5	179691840	179691840	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:179691840C>T	ENST00000452135.2	-	4	551		c.e4-1		MAPK9_ENST00000455781.1_Splice_Site|MAPK9_ENST00000343111.6_Splice_Site|MAPK9_ENST00000425491.2_Splice_Site|MAPK9_ENST00000539014.1_Splice_Site|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000393360.3_Splice_Site|MAPK9_ENST00000397072.3_Splice_Site|MAPK9_ENST00000347470.4_Splice_Site			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.?(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACTAATTATCTGAAAAGAGA	0.259																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	5						.						29.0	31.0	30.0					5																	179691840		2165	4264	6429	179624446	SO:0001630	splice_region_variant	5601	.			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.253-1G>A	5.37:g.179691840C>T		Somatic		Capture	Illumina HiSeq	Phase_I	179624446	.	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Splice_Site	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754773	0.69648	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1609	0.93531	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAPK9	179624446	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.711000	0.84669	2.541000	0.85698	0.655000	0.94253	.		0.259	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		Intron
Unknown	0	broad.mit.edu	37	5	180409437	180409437	+	IGR	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:180409437A>C								BTNL8 (31531 upstream) : BTNL3 (6407 downstream)																							GATTGCAGAAAGGGCAAAAAT	0.428																																					.												.	.	0			.	5						.						120.0	100.0	107.0					5																	180409437		2158	3949	6107	180342043	SO:0001628	intergenic_variant	79908	.																															5.37:g.180409437A>C		Somatic		Capture	Illumina HiSeq	Phase_I	180342043	.		Intron	SNP		37																																																																																				0	0.428								
TRIM41	90933	broad.mit.edu	37	5	180661941	180661941	+	3'UTR	SNP	G	G	T	rs371194975		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr5:180661941G>T	ENST00000315073.5	+	0	2769				TRIM41_ENST00000351937.5_Nonsense_Mutation_p.E493*	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E493*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCTAAAGAACCCTCCTG	0.547																																					p.E493X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1477T	5						.	G	,stop/GLU	0,4406		0,0,2203	87.0	92.0	90.0		,1477	0.5	0.0	5		90	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,stop-gained	TRIM41	NM_033549.3,NM_201627.1	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	,493/519	180661941	1,13005	2203	4300	6503	180594547	SO:0001624	3_prime_UTR_variant	90933	exon7			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*166G>T	5.37:g.180661941G>T		Somatic		Capture	Illumina HiSeq	Phase_I	180594547	NM_201627	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	3'UTR	SNP	ENST00000315073.5	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	40	8.430082	0.98808	0.0	1.16E-4	ENSG00000146063	ENST00000351937	.	.	.	4.58	0.488	0.16848	.	.	.	.	.	.	.	.	.	.	.	0.22796	N	0.998726	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5759	0.07934	0.3108:0.0:0.5139:0.1753	.	.	.	.	X	493	.	ENSP00000336749:E493X	E	+	1	0	TRIM41	180594547	0.277000	0.24220	0.019000	0.16419	0.826000	0.46750	0.422000	0.21296	-0.038000	0.13624	0.305000	0.20034	GAA		0.547	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
MUT	4594	broad.mit.edu	37	6	49425612	49425613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:49425612_49425613insT	ENST00000274813.3	-	3	671_672	c.544_545insA	c.(544-546)atgfs	p.M182fs		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	182					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.M182fs*29(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAACTGACATTTTTTCTAAA	0.386																																					p.M182fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.545_546insA	6	GRCh37	CI002205	MUT	I		.																																			49533572	SO:0001589	frameshift_variant	4594	exon3				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.545dupA	6.37:g.49425618_49425618dupT	ENSP00000274813:p.Met182fs	Somatic		Capture	Illumina HiSeq	Phase_I	49533571	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Frame_Shift_Ins	INS	ENST00000274813.3	37	CCDS4924.1																																																																																				0.386	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
C6orf48	50854	broad.mit.edu	37	6	31807422	31807422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31807422delA	ENST00000375640.3	+	4	937	c.210delA	c.(208-210)ggafs	p.G70fs	C6orf48_ENST00000395788.3_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000375633.1_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000395789.1_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000375639.2_Frame_Shift_Del_p.G70fs|SNORD52_ENST00000364884.1_RNA|C6orf48_ENST00000375642.2_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000375641.2_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000375635.2_Frame_Shift_Del_p.G70fs|C6orf48_ENST00000375638.3_Frame_Shift_Del_p.G70fs	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	70								p.M72fs*>4(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4						TTATTGGGGGAAAAATGCCTG	0.368																																					p.G70fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.210delA	6						.						111.0	109.0	109.0					6																	31807422		2203	4300	6503	31915401	SO:0001589	frameshift_variant	50854	exon4			AJ249732	CCDS34416.1	6p21.33	2011-12-13			ENSG00000204387	ENSG00000204387			19078	protein-coding gene	gene with protein product		605447				8096093	Standard	NM_001287483		Approved	D6S57, G8	uc003rjy.2	Q9UBA6	OTTHUMG00000031175	ENST00000375640.3:c.210delA	6.37:g.31807422delA	ENSP00000364791:p.Gly70fs	Somatic		Capture	Illumina HiSeq	Phase_I	31915401	NM_001040438	Q9BW21|Q9UBA7|Q9UBA8	Frame_Shift_Del	DEL	ENST00000375640.3	37	CCDS34416.1																																																																																				0.368	C6orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076332.2	NM_001040437	
MCHR2	84539	broad.mit.edu	37	6	100369045	100369045	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:100369045G>A	ENST00000281806.2	-	6	1108	c.794C>T	c.(793-795)gCc>gTc	p.A265V	MCHR2_ENST00000369212.2_Missense_Mutation_p.A265V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A265V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGATAAGGGGCAGCACTCAG	0.483																																					p.A265V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794T	6						.						213.0	191.0	199.0					6																	100369045		2203	4300	6503	100475766	SO:0001583	missense	84539	exon6			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.794C>T	6.37:g.100369045G>A	ENSP00000281806:p.Ala265Val	Somatic		Capture	Illumina HiSeq	Phase_I	100475766	NM_001040179	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591971	0.66219	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71698	-0.59;-0.59;-0.59	5.05	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.309590	0.25701	N	0.028874	T	0.63651	0.2529	M	0.80982	2.52	0.34901	D	0.746474	P	0.38535	0.635	B	0.43194	0.411	T	0.65817	-0.6076	10	0.37606	T	0.19	.	11.3785	0.49743	0.0891:0.0:0.9109:0.0	.	265	Q969V1	MCHR2_HUMAN	V	265	ENSP00000403490:A265V;ENSP00000281806:A265V;ENSP00000358214:A265V	ENSP00000281806:A265V	A	-	2	0	MCHR2	100475766	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	3.217000	0.51184	1.121000	0.41925	0.655000	0.94253	GCC		0.483	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
SIM1	6492	broad.mit.edu	37	6	100838578	100838578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:100838578C>T	ENST00000369208.3	-	12	2742	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T	SIM1_ENST00000262901.4_Missense_Mutation_p.A654T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	654	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A654T(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGAGATAGTGCGGTGGGACTG	0.453																																					p.A654T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1960A	6						.						194.0	195.0	194.0					6																	100838578		2203	4300	6503	100945299	SO:0001583	missense	6492	exon11			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1960G>A	6.37:g.100838578C>T	ENSP00000358210:p.Ala654Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100945299	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.682695	0.00745	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.29397	1.57;1.57	6.03	4.25	0.50352	Single-minded, C-terminal (2);	0.358466	0.32287	N	0.006309	T	0.06142	0.0159	N	0.14661	0.345	0.21697	N	0.999588	B	0.10296	0.003	B	0.06405	0.002	T	0.36261	-0.9755	10	0.20046	T	0.44	.	11.6605	0.51343	0.0:0.751:0.0:0.249	.	654	P81133	SIM1_HUMAN	T	654	ENSP00000358210:A654T;ENSP00000262901:A654T	ENSP00000262901:A654T	A	-	1	0	SIM1	100945299	0.015000	0.18098	0.919000	0.36401	0.195000	0.23768	0.190000	0.17057	0.454000	0.26884	-1.151000	0.01829	GCA		0.453	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
SIM1	6492	broad.mit.edu	37	6	100896495	100896495	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:100896495G>A	ENST00000369208.3	-	7	1385	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SIM1_ENST00000262901.4_Silent_p.F201F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	201					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F201F(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCAGCCGTCGAAGGGGGACA	0.597																																					p.F201F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	6						.						48.0	48.0	48.0					6																	100896495		2203	4300	6503	101003216	SO:0001819	synonymous_variant	6492	exon6			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.603C>T	6.37:g.100896495G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101003216	NM_005068	Q5TDP7	Silent	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																				0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
SIM1	6492	broad.mit.edu	37	6	100897271	100897271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:100897271G>A	ENST00000369208.3	-	6	1293	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	SIM1_ENST00000262901.4_Missense_Mutation_p.R171C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	171					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R171C(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGGCGTTACGCTTGGCCAAG	0.632																																					p.R171C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511T	6						.						47.0	42.0	44.0					6																	100897271		2203	4300	6503	101003992	SO:0001583	missense	6492	exon5			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.511C>T	6.37:g.100897271G>A	ENSP00000358210:p.Arg171Cys	Somatic		Capture	Illumina HiSeq	Phase_I	101003992	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958110	0.73902	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.34472	1.36;1.36	5.54	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73436	-0.3983	10	0.87932	D	0	.	15.0473	0.71838	0.0:0.0:0.1589:0.8411	.	171	P81133	SIM1_HUMAN	C	171	ENSP00000358210:R171C;ENSP00000262901:R171C	ENSP00000262901:R171C	R	-	1	0	SIM1	101003992	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.221000	0.42917	0.146000	0.19002	-0.182000	0.12963	CGT		0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
GRIK2	2898	broad.mit.edu	37	6	102124605	102124605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:102124605G>T	ENST00000421544.1	+	4	1139	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	GRIK2_ENST00000369134.4_Nonsense_Mutation_p.E168*|GRIK2_ENST00000369138.1_Nonsense_Mutation_p.E217*|GRIK2_ENST00000358361.3_Nonsense_Mutation_p.E217*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.E217*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.E217*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.E217*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	217					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E217*(2)|p.E217K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTTACTAAAAGAAATGAAAAG	0.363																																					p.E217X												.	.	4	Substitution - Missense(2)|Substitution - Nonsense(2)	large_intestine(4)	c.G649T	6						.						77.0	79.0	78.0					6																	102124605		2203	4300	6503	102231298	SO:0001587	stop_gained	2898	exon4				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.649G>T	6.37:g.102124605G>T	ENSP00000397026:p.Glu217*	Somatic		Capture	Illumina HiSeq	Phase_I	102231298	NM_175768	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	45	11.357228	0.99551	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	.	.	.	5.77	4.9	0.64082	.	0.053978	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9797	0.71303	0.0684:0.0:0.9316:0.0	.	.	.	.	X	217;217;217;217;217;217;217;168;179	.	ENSP00000313276:E217X	E	+	1	0	GRIK2	102231298	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.867000	0.99620	1.461000	0.47929	-0.157000	0.13467	GAA		0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102337587	102337587	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:102337587T>G	ENST00000421544.1	+	11	2087	c.1597T>G	c.(1597-1599)Ttt>Gtt	p.F533V	GRIK2_ENST00000369134.4_Missense_Mutation_p.F484V|GRIK2_ENST00000369138.1_Missense_Mutation_p.F533V|GRIK2_ENST00000413795.1_Missense_Mutation_p.F533V|GRIK2_ENST00000369137.3_Missense_Mutation_p.F533V|GRIK2_ENST00000318991.6_Missense_Mutation_p.F533V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	533					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.F533V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCCAAGCCCTTTATGACACT	0.433																																					p.F533V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1597G	6						.						143.0	139.0	141.0					6																	102337587		2203	4300	6503	102444280	SO:0001583	missense	2898	exon11				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1597T>G	6.37:g.102337587T>G	ENSP00000397026:p.Phe533Val	Somatic		Capture	Illumina HiSeq	Phase_I	102444280	NM_175768	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831727	0.91036	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.78456	2.415	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.11991	-1.0565	10	0.87932	D	0	.	15.7892	0.78338	0.0:0.0:0.0:1.0	.	533;533;533	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	533;533;533;533;533;533;484;132	ENSP00000397026:F533V;ENSP00000405596:F533V;ENSP00000358134:F533V;ENSP00000358133:F533V;ENSP00000313276:F533V;ENSP00000358130:F484V;ENSP00000407140:F132V	ENSP00000313276:F533V	F	+	1	0	GRIK2	102444280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.123000	0.65237	0.528000	0.53228	TTT		0.433	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
TFAP2A	7020	broad.mit.edu	37	6	10404875	10404875	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10404875G>T	ENST00000482890.1	-	5	982	c.630C>A	c.(628-630)gtC>gtA	p.V210V	TFAP2A_ENST00000319516.4_Silent_p.V206V|TFAP2A_ENST00000379608.3_Silent_p.V204V|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Silent_p.V212V|TFAP2A_ENST00000379604.2_Silent_p.V210V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	210					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V210V(1)|p.V204V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTGAACAGAAGACTTCGTTGG	0.612																																					p.V210V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C630A	6						.						80.0	78.0	79.0					6																	10404875		2203	4300	6503	10512861	SO:0001819	synonymous_variant	7020	exon4			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.630C>A	6.37:g.10404875G>T		Somatic		Capture	Illumina HiSeq	Phase_I	10512861	NM_003220	Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712046	0.30322	.	.	ENSG00000137203	ENST00000475264	.	.	.	5.47	2.55	0.30701	.	.	.	.	.	T	0.45637	0.1352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	-13.9209	9.8835	0.41247	0.073:0.3916:0.5354:0.0	.	.	.	.	Y	115	.	.	S	-	2	0	TFAP2A	10512861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.864000	0.27926	0.668000	0.31126	-0.175000	0.13238	TCT		0.612	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220	
GRIK2	2898	broad.mit.edu	37	6	102337722	102337722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:102337722C>A	ENST00000421544.1	+	11	2222	c.1732C>A	c.(1732-1734)Ctc>Atc	p.L578I	GRIK2_ENST00000369134.4_Missense_Mutation_p.L529I|GRIK2_ENST00000369138.1_Missense_Mutation_p.L578I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L578I|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.L578I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	578					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L578I(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAGTTGTGTGCTCTTTGTCAT	0.408																																					p.L578I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1732A	6						.						171.0	168.0	169.0					6																	102337722		2203	4300	6503	102444415	SO:0001583	missense	2898	exon11				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1732C>A	6.37:g.102337722C>A	ENSP00000397026:p.Leu578Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102444415	NM_175768	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572199	0.86542	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;3.28	5.61	5.61	0.85477	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	L	0.41961	1.31	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.987;0.993;0.987	T	0.61559	-0.7038	10	0.54805	T	0.06	.	19.6378	0.95744	0.0:1.0:0.0:0.0	.	578;578;578	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	578;578;578;578;578;529;177	ENSP00000397026:L578I;ENSP00000405596:L578I;ENSP00000358134:L578I;ENSP00000313276:L578I;ENSP00000358130:L529I;ENSP00000407140:L177I	ENSP00000313276:L578I	L	+	1	0	GRIK2	102444415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.631000	0.89168	0.655000	0.94253	CTC		0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
HACE1	57531	broad.mit.edu	37	6	105219890	105219890	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:105219890G>A	ENST00000262903.4	-	18	2200	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	642	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.R642W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCAGCAAACCGAAAATAGTTC	0.358																																					p.R642W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1924T	6						.						94.0	90.0	91.0					6																	105219890		2203	4300	6503	105326583	SO:0001583	missense	57531	exon18			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1924C>T	6.37:g.105219890G>A	ENSP00000262903:p.Arg642Trp	Somatic		Capture	Illumina HiSeq	Phase_I	105326583	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.15|19.15	3.772317|3.772317	0.69992|0.69992	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903|ENST00000518503;ENST00000518402	T|.	0.58210|.	0.35|.	5.58|5.58	4.7|4.7	0.59300|0.59300	HECT (4);|.	0.062175|.	0.64402|.	D|.	0.000004|.	T|T	0.59742|0.59742	0.2216|0.2216	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.99;0.995;0.999|.	P;P;P|.	0.58077|.	0.745;0.832;0.736|.	T|T	0.61267|0.61267	-0.7097|-0.7097	10|5	0.87932|.	D|.	0|.	.|.	13.3181|13.3181	0.60419|0.60419	0.0:0.0:0.5948:0.4052|0.0:0.0:0.5948:0.4052	.|.	131;642;295|.	B4DFM6;Q8IYU2;Q8IYU2-3|.	.;HACE1_HUMAN;.|.	W|L	642|124;76	ENSP00000262903:R642W|.	ENSP00000262903:R642W|.	R|S	-|-	1|2	2|0	HACE1|HACE1	105326583|105326583	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	3.488000|3.488000	0.53229|0.53229	1.320000|1.320000	0.45209|0.45209	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.358	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
HACE1	57531	broad.mit.edu	37	6	105244587	105244587	+	Silent	SNP	C	C	T	rs142028357		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:105244587C>T	ENST00000262903.4	-	9	1035	c.759G>A	c.(757-759)ccG>ccA	p.P253P	HACE1_ENST00000369125.2_Silent_p.P253P	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	253					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.P253P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GAAAAAGCCTCGGGTGATATT	0.328																																					p.P253P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G759A	6						.	C		0,4404		0,0,2202	85.0	84.0	84.0		759	-1.7	1.0	6	dbSNP_134	84	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	HACE1	NM_020771.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		253/910	105244587	1,12999	2202	4298	6500	105351280	SO:0001819	synonymous_variant	57531	exon9			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.759G>A	6.37:g.105244587C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105351280	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1																																																																																				0.328	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
GCNT2	2651	broad.mit.edu	37	6	10557087	10557087	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10557087G>A	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.C144Y|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.C144Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTATTAAGCTGCTTCCCAAAC	0.458																																					p.C144Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	6						.						87.0	88.0	88.0					6																	10557087		2203	4300	6503	10665073	SO:0001627	intron_variant	2651	exon1			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27018G>A	6.37:g.10557087G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10665073	NM_001491		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216140	0.79352	.	.	ENSG00000111846	ENST00000316170	T	0.12984	2.63	5.05	5.05	0.67936	.	.	.	.	.	T	0.45597	0.1350	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.63853	-0.6543	9	0.87932	D	0	.	18.3752	0.90433	0.0:0.0:1.0:0.0	.	144	Q06430	GNT2B_HUMAN	Y	144	ENSP00000314844:C144Y	ENSP00000314844:C144Y	C	+	2	0	GCNT2	10665073	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.487000	0.97945	2.491000	0.84063	0.655000	0.94253	TGC		0.458	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
POPDC3	64208	broad.mit.edu	37	6	105609777	105609777	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:105609777C>A	ENST00000254765.3	-	2	286	c.8G>T	c.(7-9)aGa>aTa	p.R3I	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	3					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R3I(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ACTTGAATTTCTTTCCATGGC	0.408																																					p.R3I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8T	6						.						109.0	109.0	109.0					6																	105609777		2169	4287	6456	105716470	SO:0001583	missense	64208	exon2			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.8G>T	6.37:g.105609777C>A	ENSP00000254765:p.Arg3Ile	Somatic		Capture	Illumina HiSeq	Phase_I	105716470	NM_022361	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878669	0.33162	.	.	ENSG00000132429	ENST00000254765	T	0.41758	0.99	5.72	-0.884	0.10597	.	0.935097	0.09270	N	0.825279	T	0.09069	0.0224	N	0.08118	0	0.35471	D	0.797356	B	0.28512	0.214	B	0.19946	0.027	T	0.15636	-1.0430	10	0.40728	T	0.16	-2.8608	10.7691	0.46312	0.0:0.3412:0.0:0.6588	.	3	Q9HBV1	POPD3_HUMAN	I	3	ENSP00000254765:R3I	ENSP00000254765:R3I	R	-	2	0	POPDC3	105716470	0.993000	0.37304	0.974000	0.42286	0.824000	0.46624	0.177000	0.16801	-0.104000	0.12154	-0.136000	0.14681	AGA		0.408	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	
QRSL1	55278	broad.mit.edu	37	6	107100203	107100203	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:107100203C>T	ENST00000369046.4	+	6	781	c.677C>T	c.(676-678)tCg>tTg	p.S226L	QRSL1_ENST00000369044.1_Missense_Mutation_p.S226L	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.S226L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CTGGTGAATTCGATGGATGTG	0.438																																					p.S226L	NSCLC(192;2127 2142 11668 26277 49545)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C677T	6						.						113.0	102.0	106.0					6																	107100203		2203	4300	6503	107206896	SO:0001583	missense	55278	exon6			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.677C>T	6.37:g.107100203C>T	ENSP00000358042:p.Ser226Leu	Somatic		Capture	Illumina HiSeq	Phase_I	107206896	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466284	0.84425	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.58506	0.33;0.33	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	H	0.95151	3.63	0.80722	D	1	D;P	0.56521	0.976;0.794	P;B	0.51516	0.672;0.174	D	0.83490	0.0069	10	0.87932	D	0	-10.9476	20.3495	0.98807	0.0:1.0:0.0:0.0	.	226;226	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	L	226	ENSP00000358042:S226L;ENSP00000358040:S226L	ENSP00000358040:S226L	S	+	2	0	QRSL1	107206896	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.416000	0.80143	2.814000	0.96858	0.591000	0.81541	TCG		0.438	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
C6orf203	51250	broad.mit.edu	37	6	107361386	107361386	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:107361386C>A	ENST00000405204.2	+	2	1029	c.422C>A	c.(421-423)tCt>tAt	p.S141Y	C6orf203_ENST00000311381.5_Missense_Mutation_p.S141Y|C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000443043.1_Missense_Mutation_p.S146Y	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	141						mitochondrion (GO:0005739)		p.S141Y(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GCAGTTCAGTCTTTTCGGTAT	0.403																																					p.S146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437A	6						.						107.0	104.0	105.0					6																	107361386		2203	4300	6503	107468079	SO:0001583	missense	51250	exon3			AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.422C>A	6.37:g.107361386C>A	ENSP00000384867:p.Ser141Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	107468079	NM_001142470	B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290506	0.59976	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.37915	1.17;1.17;1.17	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69537	-0.5119	10	0.87932	D	0	-18.0958	20.6647	0.99678	0.0:1.0:0.0:0.0	.	141	Q9P0P8	CF203_HUMAN	Y	146;141;141	ENSP00000390153:S146Y;ENSP00000384867:S141Y;ENSP00000310951:S141Y	ENSP00000310951:S141Y	S	+	2	0	C6orf203	107468079	1.000000	0.71417	0.986000	0.45419	0.013000	0.08279	5.281000	0.65609	2.890000	0.99128	0.655000	0.94253	TCT		0.403	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487	
SCML4	256380	broad.mit.edu	37	6	108071011	108071011	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108071011A>G	ENST00000369020.3	-	3	408	c.163T>C	c.(163-165)Tct>Cct	p.S55P	SCML4_ENST00000369021.3_Missense_Mutation_p.S26P|SCML4_ENST00000369022.2_5'UTR	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	55					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S26P(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGAACCCGAGACTTGATCTGG	0.547																																					p.S55P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T163C	6						.						63.0	65.0	65.0					6																	108071011		2203	4300	6503	108177704	SO:0001583	missense	256380	exon3				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.163T>C	6.37:g.108071011A>G	ENSP00000358016:p.Ser55Pro	Somatic		Capture	Illumina HiSeq	Phase_I	108177704	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	A	3.269	-0.149437	0.06585	.	.	ENSG00000146285	ENST00000369020;ENST00000369021;ENST00000440927	T;T;T	0.47869	1.05;0.86;0.83	5.31	0.0293	0.14162	.	.	.	.	.	T	0.09069	0.0224	L	0.29908	0.895	0.43263	D	0.995209	B;B;B	0.29136	0.002;0.001;0.234	B;B;B	0.27887	0.002;0.002;0.084	T	0.35574	-0.9783	9	0.02654	T	1	.	3.7502	0.08563	0.5455:0.0:0.2096:0.2449	.	55;55;26	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	P	55;26;26	ENSP00000358016:S55P;ENSP00000358017:S26P;ENSP00000404688:S26P	ENSP00000358016:S55P	S	-	1	0	SCML4	108177704	1.000000	0.71417	0.987000	0.45799	0.097000	0.18754	1.262000	0.32992	-0.235000	0.09767	-0.290000	0.09829	TCT		0.547	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
SEC63	11231	broad.mit.edu	37	6	108192973	108192973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108192973C>A	ENST00000369002.4	-	21	2397	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	740	Asp/Glu-rich (highly acidic).				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.E740*(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCACTGTCCTCCTGGTCTTCA	0.443																																					p.E740X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2218T	6						.						168.0	155.0	159.0					6																	108192973		2203	4297	6500	108299666	SO:0001587	stop_gained	11231	exon21			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.2218G>T	6.37:g.108192973C>A	ENSP00000357998:p.Glu740*	Somatic		Capture	Illumina HiSeq	Phase_I	108299666	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	41	8.856245	0.98980	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	.	.	.	5.54	5.54	0.83059	.	0.045596	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-18.7957	19.8369	0.96660	0.0:1.0:0.0:0.0	.	.	.	.	X	740;358	.	ENSP00000357998:E740X	E	-	1	0	SEC63	108299666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.726000	0.68515	2.767000	0.95098	0.591000	0.81541	GAG		0.443	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
SEC63	11231	broad.mit.edu	37	6	108194023	108194023	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108194023T>G	ENST00000369002.4	-	20	2307	c.2128A>C	c.(2128-2130)Aaa>Caa	p.K710Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	710	SEC63 2.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K710Q(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTCAATGGTTTAATCTGatcc	0.343																																					p.K710Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2128C	6						.						33.0	31.0	31.0					6																	108194023		2161	4238	6399	108300716	SO:0001583	missense	11231	exon20			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.2128A>C	6.37:g.108194023T>G	ENSP00000357998:p.Lys710Gln	Somatic		Capture	Illumina HiSeq	Phase_I	108300716	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423584	0.25639	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.54279	0.58	4.93	4.93	0.64822	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	N	0.12961	0.28	0.53688	D	0.99997	B;D	0.71674	0.217;0.998	B;D	0.76071	0.044;0.987	T	0.28650	-1.0037	10	0.10111	T	0.7	-21.6431	13.9796	0.64297	0.0:0.0:0.0:1.0	.	710;710	Q9UGP8;B3KQF0	SEC63_HUMAN;.	Q	710;328	ENSP00000357998:K710Q	ENSP00000357998:K710Q	K	-	1	0	SEC63	108300716	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.917000	0.63369	2.200000	0.70718	0.482000	0.46254	AAA		0.343	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
NR2E1	7101	broad.mit.edu	37	6	108508664	108508664	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108508664C>A	ENST00000368986.4	+	9	1863	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	NR2E1_ENST00000368983.3_Silent_p.I422I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	385	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I385I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCAGTGATATCTAAGCTCACA	0.393																																					p.I385I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1155A	6						.						105.0	99.0	101.0					6																	108508664		2203	4300	6503	108615357	SO:0001819	synonymous_variant	7101	exon9			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1155C>A	6.37:g.108508664C>A		Somatic		Capture	Illumina HiSeq	Phase_I	108615357	NM_003269	Q6ZMP8	Silent	SNP	ENST00000368986.4	37	CCDS5063.1																																																																																				0.393	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		
LACE1	246269	broad.mit.edu	37	6	108840903	108840903	+	Missense_Mutation	SNP	C	C	T	rs185227588		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108840903C>T	ENST00000368977.4	+	12	1393	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	403						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.R403C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ATTTCAGGTGCGTATAATTTG	0.353																																					p.R403C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207T	6						.						138.0	132.0	134.0					6																	108840903		2203	4300	6503	108947596	SO:0001583	missense	246269	exon12			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1207C>T	6.37:g.108840903C>T	ENSP00000357973:p.Arg403Cys	Somatic		Capture	Illumina HiSeq	Phase_I	108947596	NM_145315	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347856	0.61183	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.76727	2.345	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.76176	-0.3055	9	0.87932	D	0	-7.3946	19.6956	0.96023	0.0:1.0:0.0:0.0	.	403	Q8WV93	LACE1_HUMAN	C	403	.	ENSP00000357973:R403C	R	+	1	0	LACE1	108947596	1.000000	0.71417	0.999000	0.59377	0.229000	0.25112	6.496000	0.73670	2.757000	0.94681	0.561000	0.74099	CGT		0.353	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
GCM2	9247	broad.mit.edu	37	6	10874513	10874513	+	Silent	SNP	C	C	T	rs149925208		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10874513C>T	ENST00000379491.4	-	5	1383	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	412					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.S412S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGTTACAGCTCGAAAGGCTCT	0.547																																					p.S412S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1236A	6						.						91.0	88.0	89.0					6																	10874513		2203	4300	6503	10982499	SO:0001819	synonymous_variant	9247	exon5			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1236G>A	6.37:g.10874513C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10982499	NM_004752	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.547	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T	rs200953294		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18389	0.001		0.0	False		,,,				2504	0.0				p.R67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	6						.						97.0	77.0	84.0					6																	10877516		2203	4300	6503	10985502	SO:0001583	missense	9247	exon2			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.200G>A	6.37:g.10877516C>T	ENSP00000368805:p.Arg67His	Somatic		Capture	Illumina HiSeq	Phase_I	10985502	NM_004752	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	GCM2	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC		0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
SESN1	27244	broad.mit.edu	37	6	109323533	109323533	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:109323533C>A	ENST00000356644.7	-	2	210	c.116G>T	c.(115-117)aGa>aTa	p.R39I	SESN1_ENST00000302071.2_5'UTR|SESN1_ENST00000436639.2_Missense_Mutation_p.R98I	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	39					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.R98I(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TCGAGGAATTCTAATGCCAAG	0.418																																					p.R98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293T	6						.						139.0	118.0	125.0					6																	109323533		2203	4300	6503	109430226	SO:0001583	missense	27244	exon2			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.116G>T	6.37:g.109323533C>A	ENSP00000349061:p.Arg39Ile	Somatic		Capture	Illumina HiSeq	Phase_I	109430226	NM_014454	Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144047	0.77888	.	.	ENSG00000080546	ENST00000436639;ENST00000356644	T;T	0.18960	2.18;2.18	5.7	4.83	0.62350	.	0.042622	0.85682	D	0.000000	T	0.11239	0.0274	N	0.08118	0	0.80722	D	1	P;P	0.52061	0.95;0.917	P;P	0.53809	0.735;0.451	T	0.17077	-1.0381	10	0.52906	T	0.07	-53.1322	14.6565	0.68835	0.0:0.9306:0.0:0.0694	.	98;39	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	I	98;39	ENSP00000393762:R98I;ENSP00000349061:R39I	ENSP00000349061:R39I	R	-	2	0	SESN1	109430226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.699000	0.68310	1.414000	0.47017	0.655000	0.94253	AGA		0.418	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454	
PPIL6	285755	broad.mit.edu	37	6	109757345	109757345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:109757345C>A	ENST00000521072.2	-	2	773	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Nonsense_Mutation_p.E65*|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	65					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E65*(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CATGCAAATTCTTGAAGAGGA	0.328																																					p.E65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G193T	6						.						104.0	111.0	109.0					6																	109757345		2203	4300	6503	109864038	SO:0001587	stop_gained	285755	exon2				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.193G>T	6.37:g.109757345C>A	ENSP00000427929:p.Glu65*	Somatic		Capture	Illumina HiSeq	Phase_I	109864038	NM_001111298	A9NIU0|A9NIU9|E7EX15	Nonsense_Mutation	SNP	ENST00000521072.2	37	CCDS5074.1	.	.	.	.	.	.	.	.	.	.	C	41	9.080323	0.99059	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	.	.	.	5.48	5.48	0.80851	.	0.056759	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.3185	14.4164	0.67153	0.0:0.8515:0.1485:0.0	.	.	.	.	X	65	.	ENSP00000392257:E65X	E	-	1	0	PPIL6	109864038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.257000	0.51500	2.580000	0.87095	0.655000	0.94253	GAA		0.328	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4		
ZBTB24	9841	broad.mit.edu	37	6	109787329	109787329	+	Missense_Mutation	SNP	G	G	T	rs554644990		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:109787329G>T	ENST00000230122.3	-	7	1986	c.1819C>A	c.(1819-1821)Ctt>Att	p.L607I	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	607					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L607I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGCTGAAAGAATTAAATTC	0.488																																					p.L607I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819A	6						.						98.0	99.0	98.0					6																	109787329		2203	4300	6503	109894022	SO:0001583	missense	9841	exon7			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1819C>A	6.37:g.109787329G>T	ENSP00000230122:p.Leu607Ile	Somatic		Capture	Illumina HiSeq	Phase_I	109894022	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159839	0.78226	.	.	ENSG00000112365	ENST00000230122	T	0.11169	2.8	5.95	5.95	0.96441	.	0.228496	0.37393	N	0.002120	T	0.06826	0.0174	L	0.27053	0.805	0.32440	N	0.546849	P	0.52577	0.954	P	0.47206	0.541	T	0.03344	-1.1046	10	0.62326	D	0.03	-17.9812	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	607	O43167	ZBT24_HUMAN	I	607	ENSP00000230122:L607I	ENSP00000230122:L607I	L	-	1	0	ZBTB24	109894022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.401000	0.52601	2.821000	0.97095	0.650000	0.86243	CTT		0.488	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
ZBTB24	9841	broad.mit.edu	37	6	109802388	109802388	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:109802388C>T	ENST00000230122.3	-	2	1009	c.842G>A	c.(841-843)aGg>aAg	p.R281K		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	281					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R281K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TCCACAGATCCTCTTGGCTGA	0.498																																					p.R281K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	6						.						116.0	111.0	113.0					6																	109802388		2203	4300	6503	109909081	SO:0001583	missense	9841	exon2			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.842G>A	6.37:g.109802388C>T	ENSP00000230122:p.Arg281Lys	Somatic		Capture	Illumina HiSeq	Phase_I	109909081	NM_001164313	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196579	0.38806	.	.	ENSG00000112365	ENST00000230122	T	0.10960	2.82	5.37	2.27	0.28462	.	0.179295	0.64402	N	0.000010	T	0.02047	0.0064	L	0.29908	0.895	0.32133	N	0.58647	B;B	0.18166	0.026;0.002	B;B	0.21917	0.037;0.004	T	0.43925	-0.9361	10	0.33940	T	0.23	-17.8853	2.4727	0.04568	0.1459:0.533:0.1412:0.1799	.	281;281	O43167-2;O43167	.;ZBT24_HUMAN	K	281	ENSP00000230122:R281K	ENSP00000230122:R281K	R	-	2	0	ZBTB24	109909081	0.689000	0.27690	0.979000	0.43373	0.945000	0.59286	1.091000	0.30915	0.251000	0.21505	0.561000	0.74099	AGG		0.498	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
SYCP2L	221711	broad.mit.edu	37	6	10903167	10903167	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10903167C>T	ENST00000283141.6	+	8	908	c.612C>T	c.(610-612)ttC>ttT	p.F204F	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Silent_p.F45F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	204						nucleus (GO:0005634)		p.F204F(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAAAAAAATTCCCTTTGTCAG	0.388																																					p.F204F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	6						.						125.0	118.0	121.0					6																	10903167		1928	4155	6083	11011153	SO:0001819	synonymous_variant	221711	exon8			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.612C>T	6.37:g.10903167C>T		Somatic		Capture	Illumina HiSeq	Phase_I	11011153	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	CCDS43423.1																																																																																				0.388	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
AK9	221264	broad.mit.edu	37	6	109993198	109993198	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:109993198G>A	ENST00000424296.2	-	5	331	c.255C>T	c.(253-255)agC>agT	p.S85S	AK9_ENST00000368948.2_Silent_p.S85S|AK9_ENST00000285397.5_Silent_p.S85S|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	85	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.S85S(2)									TGCTTTGACCGCTGATCAACA	0.323																																					p.S85S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C255T	6						.						112.0	106.0	108.0					6																	109993198		2203	4300	6503	110099891	SO:0001819	synonymous_variant	221264	exon5			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.255C>T	6.37:g.109993198G>A		Somatic		Capture	Illumina HiSeq	Phase_I	110099891	NM_145025	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	CCDS55048.1																																																																																				0.323	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
GPR6	2830	broad.mit.edu	37	6	110301378	110301378	+	Missense_Mutation	SNP	C	C	T	rs199868747		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:110301378C>T	ENST00000275169.3	+	1	1081	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	GPR6_ENST00000414000.2_Missense_Mutation_p.R370C	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	355					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R355C(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGTGCCCTTTCGTTCCAGGTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.001		0.0	False		,,,				2504	0.0				p.R355C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	6						.						101.0	105.0	103.0					6																	110301378		2203	4300	6503	110408071	SO:0001583	missense	2830	exon1				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.1063C>T	6.37:g.110301378C>T	ENSP00000275169:p.Arg355Cys	Somatic		Capture	Illumina HiSeq	Phase_I	110408071	NM_005284	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.01	3.001178	0.54254	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.38560	1.13;1.13	4.93	4.93	0.64822	.	0.138709	0.49916	D	0.000132	T	0.22166	0.0534	L	0.35341	1.055	0.80722	D	1	B;B	0.31054	0.306;0.157	B;B	0.21546	0.016;0.035	T	0.11966	-1.0566	10	0.66056	D	0.02	.	18.3227	0.90244	0.0:1.0:0.0:0.0	.	370;355	B4DHS9;P46095	.;GPR6_HUMAN	C	333;370;355	ENSP00000406986:R370C;ENSP00000275169:R355C	ENSP00000275169:R355C	R	+	1	0	GPR6	110408071	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.923000	0.70045	2.560000	0.86352	0.655000	0.94253	CGT		0.592	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1		
DDO	8528	broad.mit.edu	37	6	110714274	110714274	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:110714274G>T	ENST00000368924.3	-	5	829	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	DDO_ENST00000368923.3_Missense_Mutation_p.L213M	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	244					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.L272M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TCCGGGGACAGATTCCAGTCC	0.522																																					p.L213M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637A	6						.						138.0	147.0	144.0					6																	110714274		2203	4300	6503	110820967	SO:0001583	missense	8528	exon4			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.814C>A	6.37:g.110714274G>T	ENSP00000357920:p.Leu272Met	Somatic		Capture	Illumina HiSeq	Phase_I	110820967	NM_004032	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111387	0.56398	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.82081	-1.57;-1.57;-1.57	5.84	4.08	0.47627	.	0.075981	0.53938	D	0.000047	T	0.81574	0.4851	M	0.67953	2.075	0.44719	D	0.997715	D;P	0.61697	0.99;0.956	P;P	0.56163	0.793;0.625	T	0.81064	-0.1102	10	0.42905	T	0.14	-8.752	10.6783	0.45799	0.2047:0.0:0.7953:0.0	.	213;272	Q99489-4;Q99489-3	.;.	M	272;213;244	ENSP00000357920:L272M;ENSP00000357919:L213M;ENSP00000357921:L244M	ENSP00000357919:L213M	L	-	1	2	DDO	110820967	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	2.935000	0.48963	0.829000	0.34733	0.563000	0.77884	CTG		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1		
GTF3C6	112495	broad.mit.edu	37	6	111283699	111283699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111283699G>T	ENST00000329970.7	+	5	562	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	snoU13_ENST00000458794.1_RNA|GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	118					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E118*(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGAAGGAGAAGAAAACATAGG	0.368																																					p.E118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G352T	6						.						68.0	66.0	66.0					6																	111283699		2203	4300	6503	111390392	SO:0001587	stop_gained	112495	exon5			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.352G>T	6.37:g.111283699G>T	ENSP00000357863:p.Glu118*	Somatic		Capture	Illumina HiSeq	Phase_I	111390392	NM_138408	Q5VXN2	Nonsense_Mutation	SNP	ENST00000329970.7	37	CCDS5087.1	.	.	.	.	.	.	.	.	.	.	g	37	6.310853	0.97462	.	.	ENSG00000155115	ENST00000329970	.	.	.	4.49	4.49	0.54785	.	0.248587	0.43747	D	0.000528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.0054	17.2276	0.86975	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000357863:E118X	E	+	1	0	GTF3C6	111390392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.531000	0.73820	2.240000	0.73641	0.558000	0.71614	GAA		0.368	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408	
KIAA1919	91749	broad.mit.edu	37	6	111587861	111587861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111587861G>T	ENST00000368847.4	+	4	1449	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	366					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.E366*(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCCCTGGGAGAAATGGCTAT	0.433																																					p.E366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	6						.						99.0	100.0	99.0					6																	111587861		2203	4300	6503	111694554	SO:0001587	stop_gained	91749	exon4			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1096G>T	6.37:g.111587861G>T	ENSP00000357840:p.Glu366*	Somatic		Capture	Illumina HiSeq	Phase_I	111694554	NM_153369	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Nonsense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	39	7.800641	0.98498	.	.	ENSG00000173214	ENST00000368847	.	.	.	5.92	5.02	0.67125	.	0.045054	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.7909	16.5	0.84254	0.0:0.0:0.8685:0.1315	.	.	.	.	X	366	.	ENSP00000357840:E366X	E	+	1	0	KIAA1919	111694554	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.010000	0.76353	2.806000	0.96561	0.551000	0.68910	GAA		0.433	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369	
REV3L	5980	broad.mit.edu	37	6	111689163	111689163	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111689163T>C	ENST00000358835.3	-	15	6282	c.5828A>G	c.(5827-5829)gAc>gGc	p.D1943G	REV3L_ENST00000435970.1_Missense_Mutation_p.D1865G|REV3L_ENST00000368802.3_Missense_Mutation_p.D1943G|REV3L_ENST00000368805.1_Missense_Mutation_p.D1943G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1943					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.D1865G(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAAGGAAAAGTCTCCCTCAAA	0.463								DNA polymerases (catalytic subunits)																													p.D1943G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5828G	6						.						61.0	58.0	59.0					6																	111689163		2203	4300	6503	111795856	SO:0001583	missense	5980	exon14			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5828A>G	6.37:g.111689163T>C	ENSP00000351697:p.Asp1943Gly	Somatic		Capture	Illumina HiSeq	Phase_I	111795856	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512256	0.85389	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.65	5.65	0.86999	Ribonuclease H-like (1);	0.119454	0.56097	D	0.000032	T	0.56077	0.1961	L	0.54323	1.7	0.50467	D	0.999879	D	0.71674	0.998	P	0.59703	0.862	T	0.55945	-0.8060	10	0.41790	T	0.15	-5.3184	16.1778	0.81874	0.0:0.0:0.0:1.0	.	1943	O60673	DPOLZ_HUMAN	G	1943;1943;1943;1865;16	ENSP00000357792:D1943G;ENSP00000357795:D1943G;ENSP00000351697:D1943G;ENSP00000402003:D1865G	ENSP00000351697:D1943G	D	-	2	0	REV3L	111795856	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.407000	0.80029	2.279000	0.76181	0.533000	0.62120	GAC		0.463	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111694619	111694619	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111694619A>C	ENST00000358835.3	-	14	5393	c.4939T>G	c.(4939-4941)Ttt>Gtt	p.F1647V	REV3L_ENST00000435970.1_Missense_Mutation_p.F1569V|REV3L_ENST00000368802.3_Missense_Mutation_p.F1647V|REV3L_ENST00000368805.1_Missense_Mutation_p.F1647V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1647					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F1569V(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTAATATCAAAATTATAATTA	0.348								DNA polymerases (catalytic subunits)																													p.F1647V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4939G	6						.						43.0	46.0	45.0					6																	111694619		2201	4300	6501	111801312	SO:0001583	missense	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4939T>G	6.37:g.111694619A>C	ENSP00000351697:p.Phe1647Val	Somatic		Capture	Illumina HiSeq	Phase_I	111801312	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508249	0.64410	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.05139	3.58;3.58;3.58;3.49	5.84	5.84	0.93424	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.63843	1.955	0.50171	D	0.999854	D	0.76494	0.999	D	0.80764	0.994	T	0.00533	-1.1685	10	0.54805	T	0.06	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1647	O60673	DPOLZ_HUMAN	V	1647;1647;1647;1569	ENSP00000357792:F1647V;ENSP00000357795:F1647V;ENSP00000351697:F1647V;ENSP00000402003:F1569V	ENSP00000351697:F1647V	F	-	1	0	REV3L	111801312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.671000	0.91174	2.228000	0.72767	0.533000	0.62120	TTT		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
ERVFRD-1	405754	broad.mit.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:11104936C>T	ENST00000472091.1	-	2	983	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R203Q|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	203					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.R203Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	6						.						73.0	82.0	79.0					6																	11104936		2203	4300	6503	11212922	SO:0001583	missense	405754	exon2			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.608G>A	6.37:g.11104936C>T	ENSP00000420174:p.Arg203Gln	Somatic		Capture	Illumina HiSeq	Phase_I	11212922	NM_207582		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	C	5.755	0.323699	0.10900	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.14640	2.49;2.49	0.225	0.225	0.15325	.	.	.	.	.	T	0.01387	0.0045	N	0.22421	0.69	0.09310	N	1	D	0.52996	0.957	B	0.29077	0.098	T	0.41592	-0.9500	8	0.11794	T	0.64	.	.	.	.	.	203	P60508	EFRD1_HUMAN	Q	203	ENSP00000420174:R203Q;ENSP00000444461:R203Q	ENSP00000420174:R203Q	R	-	2	0	ERVFRD-1	11212922	0.261000	0.24063	0.035000	0.18076	0.035000	0.12851	0.305000	0.19254	0.300000	0.22699	0.305000	0.20034	CGA		0.463	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582	
REV3L	5980	broad.mit.edu	37	6	111709226	111709226	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111709226G>T	ENST00000358835.3	-	9	1379	c.925C>A	c.(925-927)Ctc>Atc	p.L309I	REV3L_ENST00000435970.1_Missense_Mutation_p.L231I|REV3L_ENST00000368802.3_Missense_Mutation_p.L309I|REV3L_ENST00000368805.1_Missense_Mutation_p.L309I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	309					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.L231I(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTGTTTGAGAATTTCCTGA	0.284								DNA polymerases (catalytic subunits)																													p.L309I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925A	6						.						49.0	52.0	51.0					6																	111709226		2203	4296	6499	111815919	SO:0001583	missense	5980	exon8			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.925C>A	6.37:g.111709226G>T	ENSP00000351697:p.Leu309Ile	Somatic		Capture	Illumina HiSeq	Phase_I	111815919	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691965	0.88735	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000006	T	0.47801	0.1465	L	0.46885	1.475	0.41804	D	0.989936	D	0.69078	0.997	D	0.78314	0.991	T	0.45977	-0.9224	10	0.56958	D	0.05	.	19.0474	0.93027	0.0:0.0:1.0:0.0	.	309	O60673	DPOLZ_HUMAN	I	309;309;309;231	ENSP00000357792:L309I;ENSP00000357795:L309I;ENSP00000351697:L309I;ENSP00000402003:L231I	ENSP00000351697:L309I	L	-	1	0	REV3L	111815919	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.470000	0.60175	2.493000	0.84123	0.591000	0.81541	CTC		0.284	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
FYN	2534	broad.mit.edu	37	6	112024169	112024169	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112024169G>A	ENST00000354650.3	-	8	1222	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.R206C|FYN_ENST00000368678.4_Missense_Mutation_p.R206C|FYN_ENST00000229470.5_Missense_Mutation_p.R157C|FYN_ENST00000229471.4_Missense_Mutation_p.R206C|FYN_ENST00000356013.2_Missense_Mutation_p.R206C|FYN_ENST00000368682.3_Missense_Mutation_p.R206C|FYN_ENST00000538466.1_Missense_Mutation_p.R206C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	206	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R206C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCAAGTTTGCGAATTTTATAA	0.408																																					p.R206C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	6						.						163.0	157.0	159.0					6																	112024169		2203	4300	6503	112130862	SO:0001583	missense	2534	exon6			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.616C>T	6.37:g.112024169G>A	ENSP00000346671:p.Arg206Cys	Somatic		Capture	Illumina HiSeq	Phase_I	112130862	NM_153048	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873557	0.91664	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	6.03	6.03	0.97812	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.965;0.978;1.0	D;B;P;D	0.91635	0.999;0.408;0.651;0.999	D	0.94621	0.7813	10	0.87932	D	0	.	16.0955	0.81117	0.0:0.0:0.8656:0.1344	.	157;206;206;206	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	C	206;206;206;206;206;157;206;206;157;206	ENSP00000357671:R206C;ENSP00000346671:R206C;ENSP00000229471:R206C;ENSP00000357656:R206C;ENSP00000357667:R206C;ENSP00000229470:R157C;ENSP00000348295:R206C;ENSP00000440646:R206C;ENSP00000427993:R206C	ENSP00000229470:R157C	R	-	1	0	FYN	112130862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.569000	0.73992	2.854000	0.98071	0.655000	0.94253	CGC		0.408	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
TUBE1	51175	broad.mit.edu	37	6	112405412	112405412	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112405412T>G	ENST00000368662.5	-	4	268	c.190A>C	c.(190-192)Ata>Cta	p.I64L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	64					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.I64L(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	AAAGAACATATTTTTCCCTTG	0.313																																					p.I64L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A190C	6						.						99.0	102.0	101.0					6																	112405412		2203	4300	6503	112512105	SO:0001583	missense	51175	exon4			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.190A>C	6.37:g.112405412T>G	ENSP00000357651:p.Ile64Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112512105	NM_016262	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814171	0.70912	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191;ENST00000368657	T	0.69685	-0.42	5.97	4.8	0.61643	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.67397	2.05	0.53005	D	0.999961	B	0.31640	0.333	B	0.32533	0.147	T	0.55835	-0.8078	10	0.48119	T	0.1	.	12.3673	0.55236	0.1264:0.0:0.0:0.8736	.	64	Q9UJT0	TBE_HUMAN	L	20;64;20;64	ENSP00000357651:I64L	ENSP00000357646:I64L	I	-	1	0	TUBE1	112512105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.082000	0.64450	1.064000	0.40671	0.533000	0.62120	ATA		0.313	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262	
NEDD9	4739	broad.mit.edu	37	6	11192673	11192673	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:11192673C>T	ENST00000379446.5	-	4	734	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.D190N	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	190	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.D190N(2)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGAGGGATGTCGTATACCTGA	0.433																																					p.D190N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G568A	6						.						91.0	82.0	85.0					6																	11192673		2203	4300	6503	11300659	SO:0001583	missense	4739	exon4			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.568G>A	6.37:g.11192673C>T	ENSP00000368759:p.Asp190Asn	Somatic		Capture	Illumina HiSeq	Phase_I	11300659	NM_006403	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	c	33	5.196848	0.94960	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.55930	0.49;0.61	5.62	5.62	0.85841	.	0.091701	0.64402	D	0.000001	T	0.73916	0.3648	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.999;1.0	T	0.76269	-0.3021	10	0.66056	D	0.02	-39.2675	20.062	0.97678	0.0:1.0:0.0:0.0	.	190;190;190	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	N	190	ENSP00000368759:D190N;ENSP00000422871:D190N	ENSP00000368759:D190N	D	-	1	0	NEDD9	11300659	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	6.090000	0.71397	2.816000	0.96949	0.645000	0.84053	GAC		0.433	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403	
LAMA4	3910	broad.mit.edu	37	6	112435386	112435386	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112435386G>T	ENST00000230538.7	-	38	5616	c.5219C>A	c.(5218-5220)tCt>tAt	p.S1740Y	LAMA4_ENST00000389463.4_Missense_Mutation_p.S1733Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.S1733Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.S1733Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1740	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.S1733Y(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACCACATTAGAATCTCTAAT	0.423																																					p.S1740Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5219A	6						.						82.0	74.0	77.0					6																	112435386		2203	4300	6503	112542079	SO:0001583	missense	3910	exon38				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5219C>A	6.37:g.112435386G>T	ENSP00000230538:p.Ser1740Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112542079	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807379	0.70797	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.76	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.283000	0.31554	N	0.007451	T	0.71542	0.3352	L	0.34521	1.04	0.80722	D	1	D;D	0.61080	0.989;0.986	P;P	0.58077	0.832;0.742	T	0.73877	-0.3844	10	0.54805	T	0.06	.	10.1608	0.42851	0.0714:0.1376:0.791:0.0	.	1740;1733	Q16363;Q16363-2	LAMA4_HUMAN;.	Y	1740;1733;1733;1733	ENSP00000230538:S1740Y;ENSP00000429488:S1733Y;ENSP00000374114:S1733Y;ENSP00000416470:S1733Y	ENSP00000230538:S1740Y	S	-	2	0	LAMA4	112542079	1.000000	0.71417	0.982000	0.44146	0.948000	0.59901	4.474000	0.60203	2.882000	0.98803	0.655000	0.94253	TCT		0.423	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
HDAC2	3066	broad.mit.edu	37	6	114264668	114264668	+	Nonsense_Mutation	SNP	G	G	A	rs267600769		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:114264668G>A	ENST00000519065.1	-	12	1601	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	HDAC2_ENST00000519108.1_Nonsense_Mutation_p.R379*|HDAC2_ENST00000368632.2_Nonsense_Mutation_p.R379*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.R503*			Q92769	HDAC2_HUMAN	histone deacetylase 2	409					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R409*(3)|p.R503*(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TCTGATGCTCGAACTGCACAG	0.378																																					p.R409X												HDAC2,skin,NS,Substitution - Nonsense,0 	.	4	Substitution - Nonsense(4)	large_intestine(2)|skin(2)	c.C1225T	6						.						84.0	73.0	76.0					6																	114264668		1825	4078	5903	114371361	SO:0001587	stop_gained	3066	exon12			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1225C>T	6.37:g.114264668G>A	ENSP00000430432:p.Arg409*	Somatic		Capture	Illumina HiSeq	Phase_I	114371361	NM_001527	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Nonsense_Mutation	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	38	6.695250	0.97768	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	.	.	.	6.06	4.19	0.49359	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8615	10.7642	0.46283	0.0674:0.0:0.8007:0.1319	.	.	.	.	X	409;503;379;379	.	ENSP00000357621:R379X	R	-	1	2	HDAC2	114371361	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.177000	0.65032	1.567000	0.49668	0.650000	0.86243	CGA		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
HS3ST5	222537	broad.mit.edu	37	6	114378554	114378554	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:114378554T>G	ENST00000312719.5	-	5	2096	c.908A>C	c.(907-909)aAg>aCg	p.K303T	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.K303T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	303					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.K303T(1)|p.K303R(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGCCAGGCACTTATTAAAGAT	0.398																																					p.K303T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A908C	6						.						61.0	66.0	64.0					6																	114378554		2203	4300	6503	114485247	SO:0001583	missense	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.908A>C	6.37:g.114378554T>G	ENSP00000427888:p.Lys303Thr	Somatic		Capture	Illumina HiSeq	Phase_I	114485247	NM_153612	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013207	0.54468	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.85773	-2.03;-2.03	5.9	5.9	0.94986	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	L	0.48877	1.53	0.53005	D	0.999966	D	0.76494	0.999	D	0.70227	0.968	D	0.88757	0.3254	10	0.56958	D	0.05	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	303	Q8IZT8	HS3S5_HUMAN	T	303	ENSP00000427888:K303T;ENSP00000440332:K303T	ENSP00000427888:K303T	K	-	2	0	HS3ST5	114485247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.127000	0.64727	2.264000	0.75181	0.533000	0.62120	AAG		0.398	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
NT5DC1	221294	broad.mit.edu	37	6	116439096	116439096	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:116439096T>C	ENST00000319550.4	+	6	599	c.517T>C	c.(517-519)Tca>Cca	p.S173P		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	173							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S173P(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TTATAAAATGTCAGCTTTTAA	0.323																																					p.S173P	Colon(128;1440 1664 38087 41475 42869)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T517C	6						.						95.0	96.0	96.0					6																	116439096		2203	4297	6500	116545789	SO:0001583	missense	221294	exon6			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.517T>C	6.37:g.116439096T>C	ENSP00000326858:p.Ser173Pro	Somatic		Capture	Illumina HiSeq	Phase_I	116545789	NM_152729	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720725	0.68959	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.22743	1.94;1.94	5.76	3.22	0.36961	HAD-like domain (1);	0.191111	0.47455	D	0.000233	T	0.17874	0.0429	L	0.59436	1.845	0.49299	D	0.999779	D;P;D	0.60575	0.983;0.916;0.988	P;P;P	0.58928	0.848;0.808;0.828	T	0.04811	-1.0925	10	0.23891	T	0.37	-19.7495	6.3867	0.21563	0.2325:0.0685:0.0:0.699	.	123;173;173	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	P	173	ENSP00000326858:S173P;ENSP00000393578:S173P	ENSP00000326858:S173P	S	+	1	0	NT5DC1	116545789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.704000	0.47118	1.110000	0.41699	0.533000	0.62120	TCA		0.323	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729	
DSE	29940	broad.mit.edu	37	6	116747852	116747852	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:116747852C>A	ENST00000331677.3	+	4	976	c.532C>A	c.(532-534)Ctt>Att	p.L178I	DSE_ENST00000359564.2_Missense_Mutation_p.L178I|DSE_ENST00000452085.3_Missense_Mutation_p.L178I|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L197I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	178					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.L178I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGAGAAGTTTCTTGAAGTGAT	0.463																																					p.L178I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532A	6						.						113.0	101.0	105.0					6																	116747852		2203	4300	6503	116854545	SO:0001583	missense	29940	exon3			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.532C>A	6.37:g.116747852C>A	ENSP00000332151:p.Leu178Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116854545	NM_013352	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409940	0.62399	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	6.06	6.06	0.98353	.	0.060835	0.64402	D	0.000002	T	0.14056	0.0340	L	0.31476	0.935	0.80722	D	1	P;P	0.36144	0.539;0.539	B;B	0.30782	0.12;0.12	T	0.03875	-1.0996	9	.	.	.	-21.5965	20.6208	0.99490	0.0:1.0:0.0:0.0	.	197;178	B7Z765;Q9UL01	.;DSE_HUMAN	I	178;197;178;178	ENSP00000404049:L178I;ENSP00000441152:L197I;ENSP00000332151:L178I;ENSP00000352567:L178I	.	L	+	1	0	DSE	116854545	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.764000	0.62264	2.882000	0.98803	0.655000	0.94253	CTT		0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
FAM26E	254228	broad.mit.edu	37	6	116833255	116833255	+	Silent	SNP	G	G	A	rs372266185		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:116833255G>A	ENST00000368599.3	+	1	447	c.396G>A	c.(394-396)acG>acA	p.T132T	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	132					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T132T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGAGCGGGACGAGAAGTTCAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19837	0.0		0.0	False		,,,				2504	0.001				p.T132T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	6						.	G	,	1,4405	2.1+/-5.4	0,1,2202	61.0	57.0	58.0		,396	-8.5	0.0	6		58	0,8600		0,0,4300	no	intron,coding-synonymous	FAM26E,BET3L	NM_001139444.2,NM_153711.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,132/310	116833255	1,13005	2203	4300	6503	116939948	SO:0001819	synonymous_variant	254228	exon1			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.396G>A	6.37:g.116833255G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116939948	NM_153711	B2RDJ9|B3KSR3	Silent	SNP	ENST00000368599.3	37	CCDS5108.1																																																																																				0.493	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711	
RSPH4A	345895	broad.mit.edu	37	6	116949247	116949247	+	Missense_Mutation	SNP	G	G	T	rs563352149	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:116949247G>T	ENST00000229554.5	+	3	1514	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.K459N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	459					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.K459N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAAAATCAAGAAATTTTTCA	0.393									Kartagener syndrome																												p.K459N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1377T	6						.						61.0	63.0	62.0					6																	116949247		2203	4300	6503	117055940	SO:0001583	missense	345895	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1377G>T	6.37:g.116949247G>T	ENSP00000229554:p.Lys459Asn	Somatic		Capture	Illumina HiSeq	Phase_I	117055940	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196986	0.58126	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.26223	1.75;1.75	5.74	3.02	0.34903	.	0.147541	0.56097	D	0.000032	T	0.38772	0.1053	M	0.88640	2.97	0.41012	D	0.985012	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.958	T	0.30090	-0.9990	10	0.38643	T	0.18	-24.3537	7.5559	0.27824	0.3317:0.0:0.6683:0.0	.	459;459	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	N	459;459;254	ENSP00000357570:K459N;ENSP00000229554:K459N	ENSP00000229554:K459N	K	+	3	2	RSPH4A	117055940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.841000	0.27613	0.363000	0.24346	0.655000	0.94253	AAG		0.393	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
FAM162B	221303	broad.mit.edu	37	6	117083173	117083173	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:117083173G>A	ENST00000368557.4	-	3	503	c.357C>T	c.(355-357)atC>atT	p.I119I		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	119						integral component of membrane (GO:0016021)		p.I119I(1)		large_intestine(2)|lung(4)	6						CAAAGCAGGCGATAATTGTGA	0.393																																					p.I119I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	6						.						191.0	184.0	186.0					6																	117083173		1909	4126	6035	117189866	SO:0001819	synonymous_variant	221303	exon3			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.357C>T	6.37:g.117083173G>A		Somatic		Capture	Illumina HiSeq	Phase_I	117189866	NM_001085480	Q8IXW8	Silent	SNP	ENST00000368557.4	37	CCDS43497.1																																																																																				0.393	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381	
RFX6	222546	broad.mit.edu	37	6	117245850	117245850	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:117245850G>A	ENST00000332958.2	+	15	1590	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R525Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTTGATTCGAATGCTTCTC	0.383																																					p.R525Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1574A	6						.						137.0	131.0	133.0					6																	117245850		2203	4300	6503	117352543	SO:0001583	missense	222546	exon15			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1574G>A	6.37:g.117245850G>A	ENSP00000332208:p.Arg525Gln	Somatic		Capture	Illumina HiSeq	Phase_I	117352543	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514946	0.85389	.	.	ENSG00000185002	ENST00000332958	T	0.62105	0.05	5.32	4.39	0.52855	.	0.127580	0.52532	D	0.000066	T	0.74336	0.3703	M	0.82823	2.61	0.51767	D	0.999937	D	0.89917	1.0	P	0.62649	0.905	T	0.77259	-0.2654	10	0.56958	D	0.05	-11.989	15.7537	0.78009	0.0:0.1365:0.8635:0.0	.	525	Q8HWS3	RFX6_HUMAN	Q	525	ENSP00000332208:R525Q	ENSP00000332208:R525Q	R	+	2	0	RFX6	117352543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.451000	0.80668	2.646000	0.89796	0.655000	0.94253	CGA		0.383	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
ROS1	6098	broad.mit.edu	37	6	117609848	117609848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:117609848C>T	ENST00000368508.3	-	43	7049	c.6851G>A	c.(6850-6852)gGt>gAt	p.G2284D	ROS1_ENST00000368507.3_Missense_Mutation_p.G2278D	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2284					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G2284D(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTTTCTTCACCTTGGCCACA	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.G2284D			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6851A	6						.						96.0	96.0	96.0					6																	117609848		2203	4300	6503	117716541	SO:0001583	missense	6098	exon43			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6851G>A	6.37:g.117609848C>T	ENSP00000357494:p.Gly2284Asp	Somatic		Capture	Illumina HiSeq	Phase_I	117716541	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853679	0.32791	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70164	-0.46;-0.46	4.5	3.61	0.41365	.	0.687987	0.12810	N	0.437257	T	0.22475	0.0542	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17806	-1.0357	10	0.08381	T	0.77	.	6.8805	0.24170	0.0:0.8052:0.0:0.1948	.	2284	P08922	ROS1_HUMAN	D	2284;2278	ENSP00000357494:G2284D;ENSP00000357493:G2278D	ENSP00000357493:G2278D	G	-	2	0	ROS1	117716541	0.864000	0.29904	0.754000	0.31244	0.924000	0.55760	0.968000	0.29357	2.337000	0.79520	0.563000	0.77884	GGT		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117641081	117641081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:117641081C>T	ENST00000368508.3	-	36	6088	c.5890G>A	c.(5890-5892)Gca>Aca	p.A1964T	ROS1_ENST00000368507.3_Missense_Mutation_p.A1958T|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1964	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1964T(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTCCACTGCTGTTCCTTCA	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.A1964T			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5890A	6						.						201.0	182.0	189.0					6																	117641081		2203	4300	6503	117747774	SO:0001583	missense	6098	exon36			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5890G>A	6.37:g.117641081C>T	ENSP00000357494:p.Ala1964Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117747774	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821787	0.90873	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83506	-1.73;-1.73	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.87301	0.6143	M	0.64080	1.96	0.80722	D	1	D	0.59357	0.985	P	0.59012	0.85	D	0.87771	0.2605	10	0.87932	D	0	.	19.0797	0.93177	0.0:1.0:0.0:0.0	.	1964	P08922	ROS1_HUMAN	T	1964;1958	ENSP00000357494:A1964T;ENSP00000357493:A1958T	ENSP00000357493:A1958T	A	-	1	0	ROS1	117747774	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.164000	0.64954	2.824000	0.97209	0.655000	0.94253	GCA		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117680988	117680988	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:117680988T>G	ENST00000368508.3	-	23	3830	c.3632A>C	c.(3631-3633)aAt>aCt	p.N1211T	ROS1_ENST00000368507.3_Missense_Mutation_p.N1206T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1211					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N1211T(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTAGAGCGATTGTGCAAGTG	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.N1211T			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3632C	6						.						130.0	125.0	127.0					6																	117680988		2203	4300	6503	117787681	SO:0001583	missense	6098	exon23			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3632A>C	6.37:g.117680988T>G	ENSP00000357494:p.Asn1211Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117787681	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490013	0.26686	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.89939	-2.59;-2.59	5.04	-1.06	0.10002	.	0.366526	0.26183	N	0.025842	T	0.60779	0.2295	L	0.27053	0.805	0.09310	N	1	B	0.30793	0.295	B	0.28553	0.091	T	0.56559	-0.7959	10	0.54805	T	0.06	.	2.3602	0.04305	0.1223:0.1822:0.125:0.5704	.	1211	P08922	ROS1_HUMAN	T	1211;1206	ENSP00000357494:N1211T;ENSP00000357493:N1206T	ENSP00000357493:N1206T	N	-	2	0	ROS1	117787681	0.242000	0.23868	0.007000	0.13788	0.895000	0.52256	0.447000	0.21710	0.034000	0.15491	0.533000	0.62120	AAT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ADTRP	84830	broad.mit.edu	37	6	11778854	11778854	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:11778854T>G	ENST00000414691.3	-	1	549	c.139A>C	c.(139-141)Acg>Ccg	p.T47P	ADTRP_ENST00000229583.5_Missense_Mutation_p.T47P|ADTRP_ENST00000379413.2_Missense_Mutation_p.T47P	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T47P(1)									TTAAGCAGCGTCATATATTTC	0.398																																					p.T47P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A139C	6						.						279.0	277.0	278.0					6																	11778854		2203	4300	6503	11886840	SO:0001583	missense	84830	exon1			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.139A>C	6.37:g.11778854T>G	ENSP00000404416:p.Thr47Pro	Somatic		Capture	Illumina HiSeq	Phase_I	11886840	NM_001143948	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565647	0.45694	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.83	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.89478	3.035	0.48341	D	0.999633	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.981	D	0.84245	0.0474	10	0.72032	D	0.01	-10.0888	10.3331	0.43833	0.1465:0.0:0.0:0.8535	.	47;47	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	P	47	ENSP00000404416:T47P;ENSP00000229583:T47P;ENSP00000368723:T47P;ENSP00000368726:T47P;ENSP00000422927:T47P	ENSP00000229583:T47P	T	-	1	0	C6orf105	11886840	1.000000	0.71417	0.970000	0.41538	0.030000	0.12068	4.241000	0.58707	1.011000	0.39340	0.402000	0.26972	ACG		0.398	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744	
SLC35F1	222553	broad.mit.edu	37	6	118635343	118635343	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:118635343G>T	ENST00000360388.4	+	8	1356	c.1155G>T	c.(1153-1155)caG>caT	p.Q385H		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	385					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Q385H(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACAGCTCAGGTGGAACCCT	0.602																																					p.Q385H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1155T	6						.						114.0	98.0	104.0					6																	118635343		2203	4300	6503	118742036	SO:0001583	missense	222553	exon8			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1155G>T	6.37:g.118635343G>T	ENSP00000353557:p.Gln385His	Somatic		Capture	Illumina HiSeq	Phase_I	118742036	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875410	0.33162	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.56	2.81	0.32909	.	0.201611	0.43579	D	0.000543	T	0.15392	0.0371	N	0.08118	0	0.36623	D	0.875853	B	0.10296	0.003	B	0.09377	0.004	T	0.03608	-1.1020	9	0.45353	T	0.12	.	11.0341	0.47791	0.2044:0.0:0.7956:0.0	.	385	Q5T1Q4	S35F1_HUMAN	H	385	.	ENSP00000353557:Q385H	Q	+	3	2	SLC35F1	118742036	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.993000	0.40747	0.727000	0.32360	0.655000	0.94253	CAG		0.602	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	
CEP85L	387119	broad.mit.edu	37	6	118953769	118953769	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:118953769C>A	ENST00000368491.3	-	2	700	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.D30Y|CEP85L_ENST00000392500.3_Missense_Mutation_p.D30Y|CEP85L_ENST00000419517.2_Missense_Mutation_p.D27Y	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	27						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D27Y(1)									GATGAATAATCTGGGCCTAAA	0.378																																					p.D27Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79T	6						.						78.0	71.0	74.0					6																	118953769		1851	4100	5951	119060462	SO:0001583	missense	387119	exon2			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.79G>T	6.37:g.118953769C>A	ENSP00000357477:p.Asp27Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	119060462	NM_001042475	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200167	0.58126	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.65	5.65	0.86999	.	1.119980	0.06813	N	0.790622	T	0.23094	0.0558	N	0.08118	0	0.54753	D	0.999982	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.68483	0.958;0.958;0.944;0.919	T	0.48043	-0.9069	10	0.87932	D	0	-9.8475	19.724	0.96154	0.0:1.0:0.0:0.0	.	30;27;30;27	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	Y	27;30;30;30;27	ENSP00000357477:D27Y;ENSP00000357474:D30Y;ENSP00000392131:D30Y;ENSP00000376288:D30Y;ENSP00000393317:D27Y	ENSP00000357474:D30Y	D	-	1	0	C6orf204	119060462	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	5.661000	0.68025	2.654000	0.90174	0.557000	0.71058	GAT		0.378	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	
MCM9	254394	broad.mit.edu	37	6	119232893	119232893	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:119232893T>C	ENST00000316316.6	-	7	1358	c.1072A>G	c.(1072-1074)Aaa>Gaa	p.K358E	MCM9_ENST00000316068.3_Missense_Mutation_p.K358E	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	358	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K358E(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AACTGAGATTTCCCTGTGCCA	0.383																																					p.K358E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1072G	6						.						96.0	85.0	89.0					6																	119232893		2203	4300	6503	119274592	SO:0001583	missense	254394	exon7			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1072A>G	6.37:g.119232893T>C	ENSP00000314505:p.Lys358Glu	Somatic		Capture	Illumina HiSeq	Phase_I	119274592	NM_153255	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	32	5.159315	0.94686	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;D	0.82526	-0.51;-1.62	5.85	5.85	0.93711	.	.	.	.	.	D	0.95459	0.8525	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97837	1.0266	9	0.87932	D	0	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	358	Q9NXL9-2	.	E	358	ENSP00000314505:K358E;ENSP00000312870:K358E	ENSP00000312870:K358E	K	-	1	0	MCM9	119274592	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.363000	0.79516	2.234000	0.73211	0.533000	0.62120	AAA		0.383	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
FAM184A	79632	broad.mit.edu	37	6	119301414	119301414	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:119301414C>T	ENST00000338891.7	-	10	2633	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Silent_p.T730T|FAM184A_ENST00000352896.5_Silent_p.T610T|FAM184A_ENST00000368475.4_Silent_p.T610T	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730						extracellular space (GO:0005615)		p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAAGCTCTTGCGTAAGCCGCT	0.423																																					p.T730T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2190A	6						.						127.0	119.0	122.0					6																	119301414		1905	4128	6033	119343113	SO:0001819	synonymous_variant	79632	exon10			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2190G>A	6.37:g.119301414C>T		Somatic		Capture	Illumina HiSeq	Phase_I	119343113	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
HIVEP1	3096	broad.mit.edu	37	6	12015869	12015869	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:12015869G>A	ENST00000379388.2	+	2	340	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HIVEP1_ENST00000484210.1_Missense_Mutation_p.R3Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R3Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGATGCCTCGAACTAAACAA	0.368																																					p.R3Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8A	6						.						124.0	120.0	121.0					6																	12015869		1828	4088	5916	12123855	SO:0001583	missense	3096	exon2			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8G>A	6.37:g.12015869G>A	ENSP00000368698:p.Arg3Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12123855	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869938	0.72065	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545;ENST00000484210	T	0.14391	2.51	5.42	5.42	0.78866	.	.	.	.	.	T	0.21590	0.0520	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00909	-1.1518	9	0.87932	D	0	-2.4865	16.7144	0.85394	0.0:0.0:1.0:0.0	.	3	P15822	ZEP1_HUMAN	Q	3	ENSP00000368698:R3Q	ENSP00000368698:R3Q	R	+	2	0	HIVEP1	12123855	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.945000	0.70226	2.537000	0.85549	0.655000	0.94253	CGA		0.368	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
FAM184A	79632	broad.mit.edu	37	6	119345756	119345756	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:119345756C>T	ENST00000338891.7	-	2	825	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E8K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E128K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E8K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E8K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	128						extracellular space (GO:0005615)		p.E128K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAAATTCTGTCAAAGCC	0.393																																					p.E128K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	6						.						93.0	84.0	87.0					6																	119345756		1843	4101	5944	119387455	SO:0001583	missense	79632	exon2			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.382G>A	6.37:g.119345756C>T	ENSP00000342604:p.Glu128Lys	Somatic		Capture	Illumina HiSeq	Phase_I	119387455	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095472	0.94197	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.54536	-0.8279	10	0.42905	T	0.14	-18.2283	19.8753	0.96867	0.0:1.0:0.0:0.0	.	128;8;128	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	128;8;8;128;8	ENSP00000342604:E128K;ENSP00000326608:E8K;ENSP00000357460:E8K;ENSP00000430442:E128K;ENSP00000429826:E8K	ENSP00000342604:E128K	E	-	1	0	FAM184A	119387455	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.440000	0.80464	2.711000	0.92665	0.655000	0.94253	GAA		0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	broad.mit.edu	37	6	121605029	121605029	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:121605029A>G	ENST00000398212.2	-	13	1449	c.1400T>C	c.(1399-1401)gTt>gCt	p.V467A	TBC1D32_ENST00000275159.6_Missense_Mutation_p.V467A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	467					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.V467A(1)									GGTAAAAAGAACAAGCAGATC	0.299																																					p.V467A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1400C	6						.						71.0	70.0	70.0					6																	121605029		1803	4063	5866	121646728	SO:0001583	missense	221322	exon13			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1400T>C	6.37:g.121605029A>G	ENSP00000381270:p.Val467Ala	Somatic		Capture	Illumina HiSeq	Phase_I	121646728	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.237181	0.39498	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25414	1.8;1.8	5.58	4.4	0.53042	.	0.068099	0.64402	D	0.000019	T	0.24547	0.0595	M	0.71581	2.175	0.39002	D	0.959375	P	0.52061	0.95	P	0.49999	0.628	T	0.04140	-1.0974	10	0.51188	T	0.08	-8.0361	11.5869	0.50923	0.851:0.149:0.0:0.0	.	467	Q96NH3	BROMI_HUMAN	A	467	ENSP00000275159:V467A;ENSP00000381270:V467A	ENSP00000275159:V467A	V	-	2	0	C6orf170	121646728	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	5.952000	0.70282	0.934000	0.37316	0.459000	0.35465	GTT		0.299	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121655435	121655435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:121655435C>A	ENST00000398212.2	-	1	191	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.E48*	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	48					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.E48*(1)									TGAAAATTTTCATCAGTTTCC	0.428																																					p.E48X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G142T	6						.						55.0	54.0	54.0					6																	121655435		1829	4094	5923	121697134	SO:0001587	stop_gained	221322	exon1			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.142G>T	6.37:g.121655435C>A	ENSP00000381270:p.Glu48*	Somatic		Capture	Illumina HiSeq	Phase_I	121697134	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158771	0.98103	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	.	.	.	5.25	5.25	0.73442	.	0.199014	0.42548	D	0.000693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.2678	19.0491	0.93036	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000275159:E48X	E	-	1	0	C6orf170	121697134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.816000	0.62642	2.740000	0.93945	0.313000	0.20887	GAA		0.428	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
RNF217	154214	broad.mit.edu	37	6	125404022	125404022	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:125404022T>G	ENST00000521654.2	+	6	1568	c.1568T>G	c.(1567-1569)tTt>tGt	p.F523C	RNF217_ENST00000275184.6_Missense_Mutation_p.F167C|RNF217_ENST00000560949.1_Missense_Mutation_p.F288C|RNF217_ENST00000368414.2_Missense_Mutation_p.F85C|RNF217_ENST00000359704.2_Missense_Mutation_p.I269M			Q8TC41	RN217_HUMAN	ring finger protein 217	523					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I269M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TTATTTGTATTTCCTATCTAT	0.338																																					p.I269M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T807G	6						.						116.0	109.0	111.0					6																	125404022		2203	4300	6503	125445721	SO:0001583	missense	154214	exon9			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1568T>G	6.37:g.125404022T>G	ENSP00000428698:p.Phe523Cys	Somatic		Capture	Illumina HiSeq	Phase_I	125445721	NM_152553	H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	ENST00000521654.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.33|15.33	2.801339|2.801339	0.50315|0.50315	.|.	.|.	ENSG00000146373|ENSG00000146373	ENST00000521654;ENST00000368414;ENST00000275184|ENST00000359704	T|T	0.45276|0.49139	0.9|0.79	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.234276	.|0.30575	.|N	.|0.009331	T|T	0.27933|0.27933	0.0688|0.0688	L|L	0.36672|0.36672	1.1|1.1	0.37637|0.37637	D|D	0.921896|0.921896	D|B	0.58620|0.34103	0.983|0.437	P|B	0.47075|0.32980	0.536|0.156	T|T	0.32640|0.32640	-0.9899|-0.9899	9|10	0.34782|0.87932	T|D	0.22|0	.|.	15.3831|15.3831	0.74676|0.74676	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	288|269	F2Z2M4|Q8TC41	.|RN217_HUMAN	C|M	288;85;167|269	ENSP00000275184:F167C|ENSP00000352734:I269M	ENSP00000275184:F167C|ENSP00000352734:I269M	F|I	+|+	2|3	0|3	RNF217|RNF217	125445721|125445721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.369000|5.369000	0.66138|0.66138	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.338	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553	
TPD52L1	7164	broad.mit.edu	37	6	125578304	125578304	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:125578304G>T	ENST00000534000.1	+	6	782	c.486G>T	c.(484-486)aaG>aaT	p.K162N	TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000368402.5_Intron|TPD52L1_ENST00000527711.1_Splice_Site_p.K149N|TPD52L1_ENST00000528193.1_Missense_Mutation_p.K162N|TPD52L1_ENST00000304877.13_Splice_Site_p.K167N|TPD52L1_ENST00000532429.1_Splice_Site_p.K133N|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000368388.2_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	162					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K162N(1)		endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CAAGCCTCAAGGTACAGATGA	0.458																																					p.K162N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G486T	6						.						85.0	82.0	83.0					6																	125578304		2203	4300	6503	125620003	SO:0001630	splice_region_variant	7164	exon6			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.486+1G>T	6.37:g.125578304G>T		Somatic		Capture	Illumina HiSeq	Phase_I	125620003	NM_003287	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355826	0.82243	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000392484	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.08	6.08	0.98989	.	0.047210	0.85682	D	0.000000	T	0.52141	0.1716	M	0.85373	2.75	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.58962	-0.7543	10	0.87932	D	0	-35.9719	12.7291	0.57187	0.0756:0.0:0.9244:0.0	.	162	Q16890	TPD53_HUMAN	N	167;162;149;162;133;162	ENSP00000306285:K167N;ENSP00000434142:K162N;ENSP00000436953:K149N;ENSP00000434743:K162N;ENSP00000435447:K133N	ENSP00000306285:K167N	K	+	3	2	TPD52L1	125620003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.376000	0.59556	2.894000	0.99253	0.591000	0.81541	AAG		0.458	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		Missense_Mutation
HDDC2	51020	broad.mit.edu	37	6	125598320	125598320	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:125598320G>T	ENST00000398153.2	-	5	487	c.445C>A	c.(445-447)Ctt>Att	p.L149I	HDDC2_ENST00000608456.1_5'Flank|HDDC2_ENST00000368377.4_Missense_Mutation_p.L115I|HDDC2_ENST00000608295.1_3'UTR	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	149						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.L149I(1)		endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GATGCTTGAAGAATCATTTCA	0.413																																					p.L149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445A	6						.						178.0	158.0	164.0					6																	125598320		1878	4117	5995	125640019	SO:0001583	missense	51020	exon5			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.445C>A	6.37:g.125598320G>T	ENSP00000381220:p.Leu149Ile	Somatic		Capture	Illumina HiSeq	Phase_I	125640019	NM_016063	Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	37	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642952	0.67244	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.50277	0.75;0.75;0.75	5.97	5.97	0.96955	Metal-dependent phosphohydrolase, HD domain (1);HD domain (1);	0.116682	0.64402	D	0.000012	T	0.34687	0.0906	L	0.45581	1.43	0.51012	D	0.999908	B	0.27951	0.195	B	0.31016	0.123	T	0.10894	-1.0610	10	0.41790	T	0.15	.	19.1953	0.93686	0.0:0.0:1.0:0.0	.	149	Q7Z4H3	HDDC2_HUMAN	I	115;149;115	ENSP00000316242:L115I;ENSP00000381220:L149I;ENSP00000357361:L115I	ENSP00000316242:L115I	L	-	1	0	HDDC2	125640019	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.038000	0.57318	2.828000	0.97474	0.655000	0.94253	CTT		0.413	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063	
RNF146	81847	broad.mit.edu	37	6	127608260	127608260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:127608260C>T	ENST00000368314.1	+	3	926	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Nonsense_Mutation_p.R168*|RNF146_ENST00000309649.3_Nonsense_Mutation_p.R167*|RNF146_ENST00000608991.1_Nonsense_Mutation_p.R167*|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	168	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R167*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GAAGATTAAGCGAGATATAAT	0.423																																					p.R167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C499T	6						.						72.0	73.0	72.0					6																	127608260		2203	4300	6503	127649953	SO:0001587	stop_gained	81847	exon5			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.502C>T	6.37:g.127608260C>T	ENSP00000357297:p.Arg168*	Somatic		Capture	Illumina HiSeq	Phase_I	127649953	NM_030963	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Nonsense_Mutation	SNP	ENST00000368314.1	37	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277773	0.95459	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	.	.	.	5.8	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8392	10.9829	0.47506	0.3427:0.5402:0.1171:0.0	.	.	.	.	X	168;167;167	.	ENSP00000309365:R167X	R	+	1	2	RNF146	127649953	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.878000	0.48515	0.307000	0.22880	0.655000	0.94253	CGA		0.423	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963	
ECHDC1	55862	broad.mit.edu	37	6	127637601	127637601	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:127637601A>C	ENST00000531967.1	-	4	931	c.428T>G	c.(427-429)tTt>tGt	p.F143C	ECHDC1_ENST00000309620.9_Intron|ECHDC1_ENST00000454591.2_Missense_Mutation_p.F62C|ECHDC1_ENST00000454859.3_Missense_Mutation_p.F137C|ECHDC1_ENST00000474289.2_Missense_Mutation_p.F137C|ECHDC1_ENST00000368289.2_Intron|ECHDC1_ENST00000528402.1_Intron|RNA5SP217_ENST00000515959.1_RNA|ECHDC1_ENST00000430841.2_Missense_Mutation_p.F137C|ECHDC1_ENST00000368291.2_Intron	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	143						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.F143C(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TTACCTCATAAATCTTGTTAA	0.279																																					p.F137C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T410G	6						.						96.0	91.0	93.0					6																	127637601		1794	4072	5866	127679294	SO:0001583	missense	55862	exon4			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.428T>G	6.37:g.127637601A>C	ENSP00000436585:p.Phe143Cys	Somatic		Capture	Illumina HiSeq	Phase_I	127679294	NM_001002030	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	CCDS47471.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.7|20.7|20.7	4.034763|4.034763|4.034763	0.75617|0.75617|0.75617	.|.|.	.|.|.	ENSG00000093144|ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000430841;ENST00000436638;ENST00000534442|ENST00000368293;ENST00000525745|ENST00000461239	T;T;T;T;T;T|.|.	0.68331|.|.	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32|.|.	5.64|5.64|5.64	5.64|5.64|5.64	0.86602|0.86602|0.86602	Crotonase, core (1);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.55162|0.55162|0.55162	0.1903|0.1903|0.1903	L|L|L	0.58810|0.58810|0.58810	1.83|1.83|1.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.65815|.|.	0.995|.|.	D|.|.	0.67900|.|.	0.954|.|.	T|T|T	0.56450|0.56450|0.56450	-0.7977|-0.7977|-0.7977	9|6|5	0.66056|0.42905|.	D|T|.	0.02|0.14|.	.|.|.	13.3915|13.3915|13.3915	0.60827|0.60827|0.60827	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	143|.|.	Q9NTX5|.|.	ECHD1_HUMAN|.|.	C|M|V	137;143;137;62;137;137;137|95;163|2	ENSP00000401751:F137C;ENSP00000436585:F143C;ENSP00000434908:F137C;ENSP00000404866:F62C;ENSP00000402492:F137C;ENSP00000435502:F137C|.|.	ENSP00000436703:F137C|ENSP00000357276:I95M|.	F|I|L	-|-|-	2|3|1	0|3|2	ECHDC1|ECHDC1|ECHDC1	127679294|127679294|127679294	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	6.680000|6.680000|6.680000	0.74518|0.74518|0.74518	2.148000|2.148000|2.148000	0.66965|0.66965|0.66965	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|ATT|TTA		0.279	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2		
KIAA0408	9729	broad.mit.edu	37	6	127768627	127768627	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:127768627G>A	ENST00000483725.3	-	5	1173	c.837C>T	c.(835-837)agC>agT	p.S279S	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	279								p.S279S(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CAGAATCCGAGCTGGGAAAAT	0.428																																					p.S279S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837T	6						.						114.0	117.0	116.0					6																	127768627		2203	4300	6503	127810320	SO:0001819	synonymous_variant	9729	exon5			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.837C>T	6.37:g.127768627G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127810320	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	CCDS34531.1																																																																																				0.428	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	
SOGA3	387104	broad.mit.edu	37	6	127797552	127797552	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:127797552C>A	ENST00000525778.1	-	6	2364	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I	SOGA3_ENST00000556132.1_Missense_Mutation_p.R540I|SOGA3_ENST00000465909.2_Missense_Mutation_p.R540I|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.R540I|SOGA3_ENST00000368268.2_Missense_Mutation_p.R540I			Q5TF21	SOGA3_HUMAN	SOGA family member 3	540					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R540I(1)									CATTTTCTTTCTCATCAAAGC	0.433																																					p.R540I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1619T	6						.						96.0	92.0	93.0					6																	127797552		1860	4102	5962	127839245	SO:0001583	missense	387104	exon6			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1619G>T	6.37:g.127797552C>A	ENSP00000434570:p.Arg540Ile	Somatic		Capture	Illumina HiSeq	Phase_I	127839245	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473905	0.84640	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.03202	-1.1061	10	0.56958	D	0.05	-14.3129	19.4511	0.94867	0.0:1.0:0.0:0.0	.	540	Q5TF21	CF174_HUMAN	I	540	ENSP00000451768:R540I;ENSP00000357251:R540I;ENSP00000434570:R540I;ENSP00000435559:R540I	ENSP00000435559:R540I	R	-	2	0	C6orf174	127839245	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.815000	0.86186	2.613000	0.88420	0.561000	0.74099	AGA		0.433	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
THEMIS	387357	broad.mit.edu	37	6	128135058	128135058	+	Missense_Mutation	SNP	C	C	T	rs368013855		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:128135058C>T	ENST00000368248.2	-	4	876	c.728G>A	c.(727-729)cGc>cAc	p.R243H	THEMIS_ENST00000543064.1_Missense_Mutation_p.R243H|THEMIS_ENST00000537166.1_Missense_Mutation_p.R208H|THEMIS_ENST00000368250.1_Missense_Mutation_p.R164H	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	243	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R243H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGGGAGGATGCGGATTATATC	0.343																																					p.R243H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	6						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4394		0,0,2197	84.0	92.0	89.0		728,728,623	3.0	1.0	6		89	1,8599		0,1,4299	no	missense,missense,missense	THEMIS	NM_001010923.2,NM_001164685.1,NM_001164687.1	29,29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	243/642,243/681,208/607	128135058	1,12993	2197	4300	6497	128176751	SO:0001583	missense	387357	exon4			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.728G>A	6.37:g.128135058C>T	ENSP00000357231:p.Arg243His	Somatic		Capture	Illumina HiSeq	Phase_I	128176751	NM_001164685	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	9.855	1.194788	0.22037	0.0	1.16E-4	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.46451	2.57;2.57;2.57;2.57;0.87	5.73	2.99	0.34606	.	0.337248	0.31760	N	0.007109	T	0.09247	0.0228	N	0.17082	0.46	0.35186	D	0.772924	B;B	0.16166	0.011;0.016	B;B	0.12837	0.003;0.008	T	0.10989	-1.0606	10	0.22706	T	0.39	-1.9163	5.891	0.18913	0.0:0.5283:0.0:0.4717	.	243;243	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	164;243;243;208;11	ENSP00000357233:R164H;ENSP00000439594:R243H;ENSP00000357231:R243H;ENSP00000439863:R208H;ENSP00000387740:R11H	ENSP00000357231:R243H	R	-	2	0	THEMIS	128176751	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.392000	0.34486	0.779000	0.33543	0.557000	0.71058	CGC		0.343	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
THEMIS	387357	broad.mit.edu	37	6	128150770	128150770	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:128150770A>C	ENST00000368248.2	-	3	708	c.560T>G	c.(559-561)aTt>aGt	p.I187S	THEMIS_ENST00000543064.1_Missense_Mutation_p.I187S|THEMIS_ENST00000537166.1_Missense_Mutation_p.I152S|THEMIS_ENST00000368250.1_Missense_Mutation_p.I108S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	187	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I187S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCATTCAACAATCTCCTTTAG	0.348																																					p.I187S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T560G	6						.						137.0	132.0	134.0					6																	128150770		2203	4300	6503	128192463	SO:0001583	missense	387357	exon3			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.560T>G	6.37:g.128150770A>C	ENSP00000357231:p.Ile187Ser	Somatic		Capture	Illumina HiSeq	Phase_I	128192463	NM_001164685	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168290	0.78339	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.74258	2.255	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.48854	-0.8998	10	0.87932	D	0	-19.3885	16.806	0.85666	1.0:0.0:0.0:0.0	.	187;187	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	108;187;187;152	ENSP00000357233:I108S;ENSP00000439594:I187S;ENSP00000357231:I187S;ENSP00000439863:I152S	ENSP00000357231:I187S	I	-	2	0	THEMIS	128192463	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	7.425000	0.80255	2.367000	0.80283	0.529000	0.55759	ATT		0.348	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
LAMA2	3908	broad.mit.edu	37	6	129470225	129470225	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:129470225T>C	ENST00000421865.2	+	7	1060	c.1011T>C	c.(1009-1011)acT>acC	p.T337T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	337	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.T337T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTTTCTAACTAAAACTGAAT	0.403																																					p.T337T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1011C	6						.						82.0	85.0	84.0					6																	129470225		2203	4299	6502	129511918	SO:0001819	synonymous_variant	3908	exon7			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1011T>C	6.37:g.129470225T>C		Somatic		Capture	Illumina HiSeq	Phase_I	129511918	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129511377	129511377	+	Missense_Mutation	SNP	C	C	T	rs143626559	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:129511377C>T	ENST00000421865.2	+	11	1544	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	499	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R499C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGACTGTAGTCGTTGCAAATC	0.428																																					p.R499C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495T	6						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	136.0	134.0	135.0		1495,1495	4.9	1.0	6	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	499/3123,499/3119	129511377	1,13005	2203	4300	6503	129553070	SO:0001583	missense	3908	exon11			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1495C>T	6.37:g.129511377C>T	ENSP00000400365:p.Arg499Cys	Somatic		Capture	Illumina HiSeq	Phase_I	129553070	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653618	0.88056	0.0	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.64991	-0.13	5.79	4.92	0.64577	EGF-like, laminin (4);	0.283582	0.34531	N	0.003887	T	0.76442	0.3988	H	0.95402	3.665	0.80722	D	1	D;D	0.61080	0.989;0.986	P;P	0.53954	0.738;0.643	D	0.84303	0.0506	10	0.59425	D	0.04	.	15.4681	0.75419	0.1393:0.8607:0.0:0.0	.	499;499	A6NF00;P24043	.;LAMA2_HUMAN	C	499	ENSP00000400365:R499C	ENSP00000346769:R499C	R	+	1	0	LAMA2	129553070	0.945000	0.32115	0.957000	0.39632	0.978000	0.69477	3.855000	0.55957	1.441000	0.47550	0.655000	0.94253	CGT		0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129714359	129714359	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:129714359C>T	ENST00000421865.2	+	37	5453	c.5404C>T	c.(5404-5406)Cgc>Tgc	p.R1802C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1802	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1802C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAAGCTAATCGCCTATTTGC	0.448																																					p.R1802C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5404T	6						.						93.0	93.0	93.0					6																	129714359		2203	4300	6503	129756052	SO:0001583	missense	3908	exon37			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5404C>T	6.37:g.129714359C>T	ENSP00000400365:p.Arg1802Cys	Somatic		Capture	Illumina HiSeq	Phase_I	129756052	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019604	0.35606	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.39	3.5	0.40072	Laminin I (1);	0.432911	0.25771	N	0.028401	T	0.04318	0.0119	L	0.27053	0.805	0.40894	D	0.984091	D;D	0.63046	0.992;0.992	P;P	0.49887	0.625;0.625	T	0.42207	-0.9465	10	0.36615	T	0.2	.	5.2743	0.15641	0.1325:0.5437:0.2485:0.0752	.	1802;1802	A6NF00;P24043	.;LAMA2_HUMAN	C	1802	ENSP00000400365:R1802C	ENSP00000346769:R1802C	R	+	1	0	LAMA2	129756052	0.010000	0.17322	0.500000	0.27589	0.077000	0.17291	0.746000	0.26275	1.276000	0.44395	0.591000	0.81541	CGC		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129722392	129722392	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:129722392C>T	ENST00000421865.2	+	38	5518	c.5469C>T	c.(5467-5469)agC>agT	p.S1823S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1823	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S1823S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGTTGAAAGCGGCAAACGAC	0.398																																					p.S1823S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5469T	6						.						141.0	140.0	141.0					6																	129722392		2203	4300	6503	129764085	SO:0001819	synonymous_variant	3908	exon38			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5469C>T	6.37:g.129722392C>T		Somatic		Capture	Illumina HiSeq	Phase_I	129764085	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129823819	129823819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:129823819G>T	ENST00000421865.2	+	59	8309	c.8260G>T	c.(8260-8262)Gaa>Taa	p.E2754*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2754					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E2754*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGTGCTGCAGAATCAGAACC	0.393																																					p.E2750X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8248T	6						.						80.0	80.0	80.0					6																	129823819		2203	4300	6503	129865512	SO:0001587	stop_gained	3908	exon58			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8260G>T	6.37:g.129823819G>T	ENSP00000400365:p.Glu2754*	Somatic		Capture	Illumina HiSeq	Phase_I	129865512	NM_001079823	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	49	15.575362	0.99838	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	6.17	6.17	0.99709	.	0.239284	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	2754;2753;2754;772	.	.	E	+	1	0	LAMA2	129865512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.256000	0.72473	2.941000	0.99782	0.655000	0.94253	GAA		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
L3MBTL3	84456	broad.mit.edu	37	6	130363911	130363911	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:130363911G>T	ENST00000529410.1	+	5	546	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D23Y|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D23Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D23Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D23Y|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D23Y			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	23					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D23Y(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGACTGGAAAGATGGAGTGGG	0.393																																					p.D23Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67T	6						.						185.0	162.0	170.0					6																	130363911		2203	4300	6503	130405604	SO:0001583	missense	84456	exon3			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.67G>T	6.37:g.130363911G>T	ENSP00000431962:p.Asp23Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	130405604	NM_032438	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141359	0.77775	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.70986	1.64;1.58;1.64;-0.53;1.58;1.58;1.64	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	M	0.72118	2.19	0.44181	D	0.996998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82621	-0.0367	10	0.87932	D	0	.	16.7465	0.85474	0.0:0.0:1.0:0.0	.	23;23	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Y	23	ENSP00000431962:D23Y;ENSP00000437185:D23Y;ENSP00000354526:D23Y;ENSP00000433257:D23Y;ENSP00000357121:D23Y;ENSP00000436706:D23Y;ENSP00000357118:D23Y	ENSP00000354526:D23Y	D	+	1	0	L3MBTL3	130405604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.310000	0.72830	2.687000	0.91594	0.591000	0.81541	GAT		0.393	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	
SAMD3	154075	broad.mit.edu	37	6	130475971	130475971	+	Splice_Site	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:130475971T>C	ENST00000368134.2	-	11	1630	c.1022A>G	c.(1021-1023)cAg>cGg	p.Q341R	SAMD3_ENST00000437477.2_Splice_Site_p.Q341R|SAMD3_ENST00000457563.2_Splice_Site_p.Q365R|SAMD3_ENST00000439090.2_Splice_Site_p.Q341R	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	341								p.Q341R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAAAGATACCTGATAAGGGCA	0.284																																					p.Q341R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022G	6						.						46.0	44.0	45.0					6																	130475971		2203	4300	6503	130517664	SO:0001630	splice_region_variant	154075	exon9			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1023+1A>G	6.37:g.130475971T>C		Somatic		Capture	Illumina HiSeq	Phase_I	130517664	NM_001017373	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.00|19.00	3.742826|3.742826	0.69418|0.69418	.|.	.|.	ENSG00000164483|ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477|ENST00000463253	T;T;T;T|.	0.54279|.	0.6;0.58;0.6;0.6|.	5.45|5.45	4.3|4.3	0.51218|0.51218	.|.	0.093647|.	0.47455|.	N|.	0.000224|.	T|T	0.50820|0.50820	0.1638|0.1638	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	B|.	0.20887|.	0.049|.	B|.	0.17433|.	0.018|.	T|T	0.52200|0.52200	-0.8607|-0.8607	10|5	0.48119|.	T|.	0.1|.	.|.	9.9999|9.9999	0.41922|0.41922	0.0:0.077:0.0:0.923|0.0:0.077:0.0:0.923	.|.	341|.	Q8N6K7|.	SAMD3_HUMAN|.	R|G	341;365;341;341|10	ENSP00000357116:Q341R;ENSP00000402092:Q365R;ENSP00000403565:Q341R;ENSP00000391163:Q341R|.	ENSP00000357116:Q341R|.	Q|R	-|-	2|1	0|2	SAMD3|SAMD3	130517664|130517664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.335000|3.335000	0.52105|0.52105	1.017000|1.017000	0.39495|0.39495	0.460000|0.460000	0.39030|0.39030	CAG|AGA		0.284	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	Missense_Mutation
AKAP7	9465	broad.mit.edu	37	6	131490293	131490293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:131490293G>T	ENST00000431975.2	+	5	567	c.469G>T	c.(469-471)Gaa>Taa	p.E157*	AKAP7_ENST00000368123.4_Nonsense_Mutation_p.E135*|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.E156*	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	157						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.E135*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		ATTCATAGAAGAACTCCTCCA	0.338																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	6						.						108.0	112.0	111.0					6																	131490293		2203	4300	6503	131531986	SO:0001587	stop_gained	9465	exon4			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.469G>T	6.37:g.131490293G>T	ENSP00000405252:p.Glu157*	Somatic		Capture	Illumina HiSeq	Phase_I	131531986	NM_016377	B4DUC3|Q9HCZ8	Nonsense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706393	0.89018	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	.	.	.	5.9	5.9	0.94986	.	0.055299	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.5973	15.779	0.78246	0.0:0.0:1.0:0.0	.	.	.	.	X	157;156;135	.	ENSP00000357105:E135X	E	+	1	0	AKAP7	131531986	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	6.018000	0.70811	2.788000	0.95919	0.650000	0.86243	GAA		0.338	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842	
AKAP7	9465	broad.mit.edu	37	6	131540945	131540945	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:131540945A>G	ENST00000431975.2	+	7	945	c.847A>G	c.(847-849)Att>Gtt	p.I283V	AKAP7_ENST00000263050.3_Missense_Mutation_p.I19V|AKAP7_ENST00000368123.4_Missense_Mutation_p.I261V|AKAP7_ENST00000541650.1_Missense_Mutation_p.I282V|AKAP7_ENST00000537868.1_Missense_Mutation_p.I19V	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	283						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.I261V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTCCATTGTGATTGGTGAGTG	0.269																																					p.I261V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A781G	6						.						71.0	73.0	72.0					6																	131540945		2202	4299	6501	131582638	SO:0001583	missense	9465	exon6			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.847A>G	6.37:g.131540945A>G	ENSP00000405252:p.Ile283Val	Somatic		Capture	Illumina HiSeq	Phase_I	131582638	NM_016377	B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254679	0.22965	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123;ENST00000537868;ENST00000263050	T;T;T	0.42513	0.97;0.97;0.97	5.77	0.74	0.18330	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.415428	0.25578	N	0.029704	T	0.06462	0.0166	N	0.12746	0.255	0.23550	N	0.997436	B;B	0.10296	0.003;0.002	B;B	0.13407	0.004;0.009	T	0.33879	-0.9851	10	0.27082	T	0.32	-8.3861	2.8785	0.05639	0.453:0.0:0.2467:0.3003	.	282;283	F5GXD1;Q9P0M2	.;AKA7G_HUMAN	V	283;282;261;19;19	ENSP00000405252:I283V;ENSP00000441048:I282V;ENSP00000357105:I261V	ENSP00000263050:I19V	I	+	1	0	AKAP7	131582638	0.025000	0.19082	0.931000	0.37212	0.995000	0.86356	0.068000	0.14531	0.109000	0.17891	0.533000	0.62120	ATT		0.269	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842	
MED23	9439	broad.mit.edu	37	6	131915248	131915248	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:131915248G>A	ENST00000368068.3	-	23	3402	c.3223C>T	c.(3223-3225)Cta>Tta	p.L1075L	MED23_ENST00000403834.3_Silent_p.L1081L|MED23_ENST00000354577.4_Silent_p.L1081L|MED23_ENST00000545957.1_Silent_p.L716L|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.L1075L|MED23_ENST00000368058.1_Silent_p.L1081L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1075					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.L1081L(1)|p.L1075L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTATCGACTAGTCTGCCAATC	0.333																																					p.L1075L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3223T	6						.						105.0	97.0	99.0					6																	131915248		2203	4300	6503	131956941	SO:0001819	synonymous_variant	9439	exon23			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3223C>T	6.37:g.131915248G>A		Somatic		Capture	Illumina HiSeq	Phase_I	131956941	NM_004830	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	CCDS5147.1																																																																																				0.333	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
CTGF	1490	broad.mit.edu	37	6	132270533	132270533	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:132270533G>A	ENST00000367976.3	-	5	1121	c.921C>T	c.(919-921)tgC>tgT	p.C307C	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	307	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.C307C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CGCCGTCAGGGCACTTGAACT	0.527																																					p.C307C	Esophageal Squamous(127;510 1660 12817 24400 38449)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	6						.						151.0	142.0	145.0					6																	132270533		2203	4300	6503	132312226	SO:0001819	synonymous_variant	1490	exon5			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.921C>T	6.37:g.132270533G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132312226	NM_001901	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																				0.527	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901	
TAAR6	319100	broad.mit.edu	37	6	132891927	132891927	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:132891927C>A	ENST00000275198.1	+	1	467	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	156					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)	p.S156Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ATCAGCGTGTCCTGGATCCTG	0.502																																					p.S156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467A	6						.						241.0	238.0	239.0					6																	132891927		2203	4300	6503	132933620	SO:0001583	missense	319100	exon1			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.467C>A	6.37:g.132891927C>A	ENSP00000275198:p.Ser156Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	132933620	NM_175067	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	2.692	-0.272982	0.05716	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.72167	-0.63	5.11	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.121976	0.34725	N	0.003735	D	0.83631	0.5296	H	0.96604	3.85	0.28150	N	0.929414	P	0.40211	0.707	P	0.55667	0.781	T	0.80982	-0.1139	10	0.66056	D	0.02	-17.1843	14.1595	0.65438	0.0:0.5349:0.4651:0.0	.	156	Q96RI8	TAAR6_HUMAN	Y	156;139	ENSP00000275198:S156Y	ENSP00000275198:S156Y	S	+	2	0	TAAR6	132933620	0.001000	0.12720	1.000000	0.80357	0.032000	0.12392	1.151000	0.31651	1.380000	0.46344	-0.133000	0.14855	TCC		0.502	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
TAAR5	9038	broad.mit.edu	37	6	132910243	132910243	+	Silent	SNP	G	G	A	rs142528485	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:132910243G>A	ENST00000258034.2	-	1	634	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	195					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.L195L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTATTGAGCAGCAGCTGGCAA	0.488																																					p.L195L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C583T	6						.						44.0	45.0	45.0					6																	132910243		2202	4297	6499	132951936	SO:0001819	synonymous_variant	9038	exon1			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.583C>T	6.37:g.132910243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132951936	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.488	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
TAAR1	134864	broad.mit.edu	37	6	132966784	132966784	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:132966784T>G	ENST00000275216.1	-	1	358	c.359A>C	c.(358-360)gAc>gCc	p.D120A		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	120					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)	p.D120A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ATAGTAGCGGTCAATGGAGAT	0.408																																					p.D120A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A359C	6						.						71.0	66.0	67.0					6																	132966784		2203	4299	6502	133008477	SO:0001583	missense	134864	exon1			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.359A>C	6.37:g.132966784T>G	ENSP00000275216:p.Asp120Ala	Somatic		Capture	Illumina HiSeq	Phase_I	133008477	NM_138327	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337889	0.81911	.	.	ENSG00000146399	ENST00000275216	D	0.85702	-2.02	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.049601	0.85682	D	0.000000	D	0.95884	0.8660	H	0.99444	4.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97952	1.0332	10	0.87932	D	0	-12.9617	16.3786	0.83431	0.0:0.0:0.0:1.0	.	120	Q96RJ0	TAAR1_HUMAN	A	120	ENSP00000275216:D120A	ENSP00000275216:D120A	D	-	2	0	TAAR1	133008477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.269000	0.75478	0.454000	0.30748	GAC		0.408	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
VNN1	8876	broad.mit.edu	37	6	133014420	133014420	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133014420A>G	ENST00000367928.4	-	4	582	c.569T>C	c.(568-570)gTa>gCa	p.V190A		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	190	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.V190A(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CTCCTTGGGTACATTGAATTG	0.368																																					p.V190A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T569C	6						.						66.0	65.0	65.0					6																	133014420		2203	4300	6503	133056113	SO:0001583	missense	8876	exon4			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.569T>C	6.37:g.133014420A>G	ENSP00000356905:p.Val190Ala	Somatic		Capture	Illumina HiSeq	Phase_I	133056113	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	0.570	-0.841352	0.02692	.	.	ENSG00000112299	ENST00000367928	D	0.89810	-2.57	5.95	0.192	0.15134	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	2.595140	0.01128	N	0.005924	T	0.65863	0.2732	L	0.35644	1.08	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.54377	-0.8303	10	0.14656	T	0.56	-21.722	4.3629	0.11211	0.4003:0.0:0.3515:0.2482	.	190	O95497	VNN1_HUMAN	A	190	ENSP00000356905:V190A	ENSP00000356905:V190A	V	-	2	0	VNN1	133056113	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.196000	0.09532	-0.246000	0.09611	-0.177000	0.13119	GTA		0.368	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
VNN1	8876	broad.mit.edu	37	6	133015269	133015269	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133015269A>G	ENST00000367928.4	-	3	407	c.394T>C	c.(394-396)Tct>Cct	p.S132P		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	132	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.S132P(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACATAGATAGAGTTGTTCTTG	0.433																																					p.S132P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T394C	6						.						143.0	130.0	135.0					6																	133015269		2203	4300	6503	133056962	SO:0001583	missense	8876	exon3			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.394T>C	6.37:g.133015269A>G	ENSP00000356905:p.Ser132Pro	Somatic		Capture	Illumina HiSeq	Phase_I	133056962	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563454	0.65651	.	.	ENSG00000112299	ENST00000367928	D	0.86030	-2.06	6.07	2.19	0.27852	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.155772	0.45606	D	0.000345	D	0.90359	0.6983	M	0.91140	3.18	0.41884	D	0.990337	D	0.71674	0.998	D	0.76575	0.988	D	0.89638	0.3860	10	0.66056	D	0.02	-23.266	9.0573	0.36414	0.6391:0.2444:0.0:0.1165	.	132	O95497	VNN1_HUMAN	P	132	ENSP00000356905:S132P	ENSP00000356905:S132P	S	-	1	0	VNN1	133056962	0.897000	0.30589	0.407000	0.26434	0.850000	0.48378	0.681000	0.25320	0.132000	0.18615	0.528000	0.53228	TCT		0.433	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
VNN2	8875	broad.mit.edu	37	6	133077060	133077060	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133077060A>G	ENST00000326499.6	-	3	583	c.459T>C	c.(457-459)tgT>tgC	p.C153C	VNN2_ENST00000526192.1_5'UTR|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Silent_p.C153C|VNN2_ENST00000525270.1_Silent_p.C100C	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	153	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.C153C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CATTAGGAGGACATGTGGAGT	0.453																																					p.C153C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T459C	6						.						154.0	131.0	139.0					6																	133077060		2203	4300	6503	133118753	SO:0001819	synonymous_variant	8875	exon3			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.459T>C	6.37:g.133077060A>G		Somatic		Capture	Illumina HiSeq	Phase_I	133118753	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.453	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
EYA4	2070	broad.mit.edu	37	6	133777744	133777744	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133777744G>T	ENST00000367895.5	+	6	792	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S	EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.A110S|RP1-283K11.2_ENST00000457081.1_RNA|EYA4_ENST00000525849.1_Missense_Mutation_p.A87S|EYA4_ENST00000355286.6_Missense_Mutation_p.A87S|EYA4_ENST00000531901.1_Missense_Mutation_p.A110S|EYA4_ENST00000431403.2_Missense_Mutation_p.A110S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	110					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.A110S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGAAACCACAGCCACGACTGG	0.453																																					p.A87S	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259T	6						.						214.0	210.0	212.0					6																	133777744		2203	4300	6503	133819437	SO:0001583	missense	2070	exon5			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.328G>T	6.37:g.133777744G>T	ENSP00000356870:p.Ala110Ser	Somatic		Capture	Illumina HiSeq	Phase_I	133819437	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	9.458	1.092236	0.20471	.	.	ENSG00000112319	ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.38	1.68	0.24146	.	0.212024	0.48767	N	0.000175	T	0.05227	0.0139	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.45673	-0.9245	10	0.02654	T	1	-15.3994	9.4514	0.38727	0.7299:0.0:0.2701:0.0	.	110;87;110;110	F2Z2Y1;O95677-2;O95677-4;O95677	.;.;.;EYA4_HUMAN	S	110;110;87;110;87;110	ENSP00000356870:A110S;ENSP00000347294:A110S;ENSP00000347434:A87S;ENSP00000432770:A110S;ENSP00000433219:A87S;ENSP00000404558:A110S	ENSP00000347294:A110S	A	+	1	0	EYA4	133819437	0.996000	0.38824	0.984000	0.44739	0.987000	0.75469	2.872000	0.48467	-0.176000	0.10707	-0.982000	0.02568	GCC		0.453	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
EYA4	2070	broad.mit.edu	37	6	133834068	133834068	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133834068C>A	ENST00000367895.5	+	16	1857	c.1393C>A	c.(1393-1395)Ctt>Att	p.L465I	EYA4_ENST00000430974.2_Missense_Mutation_p.L417I|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000452339.2_Missense_Mutation_p.L411I|EYA4_ENST00000355167.3_Missense_Mutation_p.L465I|EYA4_ENST00000525849.1_Missense_Mutation_p.L442I|EYA4_ENST00000355286.6_Missense_Mutation_p.L442I|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.L471I|EYA4_ENST00000431403.2_Missense_Mutation_p.L465I	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	465					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.L465I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAGTGCAAACCTTTGTTTGCC	0.383																																					p.L442I	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1324A	6						.						84.0	89.0	87.0					6																	133834068		2203	4300	6503	133875761	SO:0001583	missense	2070	exon15			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1393C>A	6.37:g.133834068C>A	ENSP00000356870:p.Leu465Ile	Somatic		Capture	Illumina HiSeq	Phase_I	133875761	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886065	0.91814	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.41	5.41	0.78517	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	L	0.58428	1.81	0.80722	D	1	P;P;D;D;P;P	0.71674	0.83;0.542;0.998;0.998;0.83;0.83	P;B;D;D;P;P	0.83275	0.674;0.327;0.996;0.996;0.674;0.756	D	0.85507	0.1195	10	0.36615	T	0.2	-13.4479	19.5625	0.95378	0.0:1.0:0.0:0.0	.	471;417;411;442;465;465	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	I	411;417;465;465;442;471;442;465	ENSP00000395916:L411I;ENSP00000388670:L417I;ENSP00000356870:L465I;ENSP00000347294:L465I;ENSP00000347434:L442I;ENSP00000432770:L471I;ENSP00000433219:L442I;ENSP00000404558:L465I	ENSP00000347294:L465I	L	+	1	0	EYA4	133875761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.679000	0.91253	0.650000	0.86243	CTT		0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
SLC2A12	154091	broad.mit.edu	37	6	134312299	134312299	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:134312299C>T	ENST00000275230.5	-	5	2003	c.1848G>A	c.(1846-1848)gaG>gaA	p.E616E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	616					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.E616E(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCCATTAGGTCTCTGGAGAAA	0.493																																					p.E616E	Melanoma(122;1663 1672 14489 35294 41228)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1848A	6						.						218.0	214.0	216.0					6																	134312299		2203	4300	6503	134353992	SO:0001819	synonymous_variant	154091	exon5			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1848G>A	6.37:g.134312299C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134353992	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	CCDS5169.1																																																																																				0.493	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
SGK1	6446	broad.mit.edu	37	6	134493900	134493900	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:134493900G>T	ENST00000237305.7	-	7	650	c.562C>A	c.(562-564)Ctc>Atc	p.L188I	SGK1_ENST00000413996.3_Missense_Mutation_p.L202I|SGK1_ENST00000367857.5_Missense_Mutation_p.L178I|SGK1_ENST00000367858.5_Missense_Mutation_p.L283I|SGK1_ENST00000475719.2_Missense_Mutation_p.L144I|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.L216I	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.L178I(1)|p.L216I(1)|p.L283I(1)|p.L188I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCCCTCTGGAGATGGTAGAAC	0.453																																					p.L202I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C604A	6						.						63.0	55.0	58.0					6																	134493900		2203	4300	6503	134535593	SO:0001583	missense	6446	exon7			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.562C>A	6.37:g.134493900G>T	ENSP00000237305:p.Leu188Ile	Somatic		Capture	Illumina HiSeq	Phase_I	134535593	NM_001143678	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006556	0.93287	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	N	0.17922	0.545	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	T	0.73081	-0.4095	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	216;202;144;178;283;188	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	I	283;202;188;178;216;144	ENSP00000356832:L283I;ENSP00000396242:L202I;ENSP00000237305:L188I;ENSP00000356831:L178I;ENSP00000434450:L216I;ENSP00000434302:L144I	ENSP00000237305:L188I	L	-	1	0	SGK1	134535593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.984000	0.88150	2.941000	0.99782	0.655000	0.94253	CTC		0.453	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
ALDH8A1	64577	broad.mit.edu	37	6	135271176	135271176	+	Missense_Mutation	SNP	C	C	T	rs150345681	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:135271176C>T	ENST00000265605.2	-	1	84	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A6T|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A6T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	6					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A6T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ATCAAAAGTGCGTTTGTTCCA	0.448													C|||	3	0.000599042	0.0	0.0	5008	,	,		19818	0.0		0.003	False		,,,				2504	0.0				p.A6T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	6						.	C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	103.0	103.0	103.0		16,16,16	0.7	0.0	6	dbSNP_134	103	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	58,58,58	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign,benign,benign	6/438,6/488,6/434	135271176	8,12998	2203	4300	6503	135312869	SO:0001583	missense	64577	exon1			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.16G>A	6.37:g.135271176C>T	ENSP00000265605:p.Ala6Thr	Somatic		Capture	Illumina HiSeq	Phase_I	135312869	NM_170771	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.19	2.758936	0.49468	4.54E-4	6.98E-4	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.76186	-1.0;-0.99;-1.0	6.14	0.675	0.17952	.	0.376195	0.27294	N	0.020038	T	0.30293	0.0760	N	0.17082	0.46	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.11329	0.004;0.006;0.003	T	0.31558	-0.9939	10	0.19147	T	0.46	.	7.8484	0.29440	0.0:0.5556:0.1117:0.3328	.	6;6;6	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	T	6	ENSP00000265605:A6T;ENSP00000356819:A6T;ENSP00000356821:A6T	ENSP00000265605:A6T	A	-	1	0	ALDH8A1	135312869	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.277000	0.08502	0.128000	0.18479	0.650000	0.86243	GCA		0.448	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		
PDE7B	27115	broad.mit.edu	37	6	136500168	136500168	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136500168C>A	ENST00000308191.6	+	10	1140	c.837C>A	c.(835-837)atC>atA	p.I279I	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	279	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.I279I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCTCCTTGATCTTGGCAACAG	0.433																																					p.I279I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837A	6						.						185.0	170.0	175.0					6																	136500168		2203	4300	6503	136541861	SO:0001819	synonymous_variant	27115	exon10			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.837C>A	6.37:g.136500168C>A		Somatic		Capture	Illumina HiSeq	Phase_I	136541861	NM_018945	Q5W154	Silent	SNP	ENST00000308191.6	37	CCDS5175.1																																																																																				0.433	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1		
MTFR2	113115	broad.mit.edu	37	6	136554602	136554602	+	Missense_Mutation	SNP	C	C	A	rs2274139	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136554602C>A	ENST00000420702.1	-	7	1294	c.905G>T	c.(904-906)aGa>aTa	p.R302I	MTFR2_ENST00000451457.2_Missense_Mutation_p.R302I	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	302					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)		p.R302I(1)									TGAATTCTGTCTTTTCCTCTT	0.308																																					p.R302I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905T	6						.						55.0	59.0	58.0					6																	136554602		2203	4297	6500	136596295	SO:0001583	missense	113115	exon7			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.905G>T	6.37:g.136554602C>A	ENSP00000395232:p.Arg302Ile	Somatic		Capture	Illumina HiSeq	Phase_I	136596295	NM_138419	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.48|13.48	2.248833|2.248833	0.39797|0.39797	.|.	.|.	ENSG00000146410|ENSG00000146410	ENST00000532958|ENST00000451457;ENST00000420702	.|T;T	.|0.49432	.|0.78;0.78	5.59|5.59	4.73|4.73	0.59995|0.59995	.|.	.|0.215784	.|0.46442	.|D	.|0.000295	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.49126|0.49126	1.545|1.545	0.45704|0.45704	D|D	0.998613|0.998613	.|P	.|0.35383	.|0.498	.|B	.|0.35470	.|0.203	T|T	0.18304|0.18304	-1.0341|-1.0341	6|10	0.44086|0.54805	T|T	0.13|0.06	-21.3532|-21.3532	10.6018|10.6018	0.45371|0.45371	0.0:0.8433:0.0:0.1567|0.0:0.8433:0.0:0.1567	rs2274139;rs2274139|rs2274139;rs2274139	.|302	.|Q6P444	.|FA54A_HUMAN	N|I	39|302	.|ENSP00000407010:R302I;ENSP00000395232:R302I	ENSP00000435348:K39N|ENSP00000395232:R302I	K|R	-|-	3|2	2|0	FAM54A|FAM54A	136596295|136596295	0.978000|0.978000	0.34361|0.34361	0.970000|0.970000	0.41538|0.41538	0.560000|0.560000	0.35617|0.35617	1.098000|1.098000	0.31000|0.31000	1.367000|1.367000	0.46095|0.46095	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA		0.308	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419	
BCLAF1	9774	broad.mit.edu	37	6	136582500	136582500	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136582500C>A	ENST00000531224.1	-	12	2912	c.2660G>T	c.(2659-2661)tGg>tTg	p.W887L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.W714L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.W838L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.W885L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.W836L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.W836L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.W105L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	887					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.W887L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCATGAGTCCATTTAGGACT	0.428																																					p.W836L	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2507T	6						.						236.0	238.0	237.0					6																	136582500		2203	4300	6503	136624193	SO:0001583	missense	9774	exon11			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2660G>T	6.37:g.136582500C>A	ENSP00000435210:p.Trp887Leu	Somatic		Capture	Illumina HiSeq	Phase_I	136624193	NM_001077440	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567724|3.567724	0.65651|0.65651	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000534762|ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	.|T;T;T;T;T;T;T	.|0.52983	.|4.35;4.35;4.35;2.12;4.35;0.64;4.35	5.5|5.5	4.63|4.63	0.57726|0.57726	.|.	.|0.203323	.|0.35903	.|N	.|0.002901	T|T	0.44265|0.44265	0.1285|0.1285	L|L	0.46157|0.46157	1.445|1.445	0.50039|0.50039	D|D	0.99984|0.99984	.|B;B;B;B;B	.|0.31351	.|0.008;0.117;0.008;0.008;0.32	.|B;B;B;B;P	.|0.46659	.|0.006;0.043;0.006;0.006;0.523	T|T	0.53809|0.53809	-0.8386|-0.8386	5|10	.|0.87932	.|D	.|0	-0.9156|-0.9156	15.6203|15.6203	0.76802|0.76802	0.1387:0.8613:0.0:0.0|0.1387:0.8613:0.0:0.0	.|.	.|885;166;836;887;714	.|Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.|.;.;.;BCLF1_HUMAN;.	I|L	153|887;836;838;714;885;105;836	.|ENSP00000435210:W887L;ENSP00000229446:W836L;ENSP00000435441:W838L;ENSP00000436501:W714L;ENSP00000434826:W885L;ENSP00000031135:W105L;ENSP00000376159:W836L	.|ENSP00000031135:W105L	M|W	-|-	3|2	0|0	BCLAF1|BCLAF1	136624193|136624193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.370000|6.370000	0.73114|0.73114	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
BCLAF1	9774	broad.mit.edu	37	6	136589371	136589371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136589371C>A	ENST00000531224.1	-	10	2578	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.E603*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.E776*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000031135.9_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	776					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E776*(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTTAAATTCTTCTTCTCTT	0.383																																					p.E774X	Colon(142;1534 1789 5427 7063 28491)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2320T	6						.						175.0	162.0	167.0					6																	136589371		2203	4300	6503	136631064	SO:0001587	stop_gained	9774	exon10			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2326G>T	6.37:g.136589371C>A	ENSP00000435210:p.Glu776*	Somatic		Capture	Illumina HiSeq	Phase_I	136631064	NM_001077440	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.208172|9.208172	0.99101|0.99101	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348|ENST00000534762	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	.|T	.|0.54791	.|0.1880	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54523	.|-0.8281	.|4	0.12430|.	T|.	0.62|.	-11.1231|-11.1231	12.4947|12.4947	0.55921|0.55921	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	.|.	.|.	.|.	X|I	776;774;776;603;774;774|42	.|.	ENSP00000229446:E774X|.	E|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136631064|136631064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.166000|3.166000	0.50785|0.50785	2.549000|2.549000	0.85964|0.85964	0.484000|0.484000	0.47621|0.47621	GAA|AGA		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
BCLAF1	9774	broad.mit.edu	37	6	136599439	136599439	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136599439C>A	ENST00000531224.1	-	4	832	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	BCLAF1_ENST00000530767.1_Missense_Mutation_p.D194Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D194Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D192Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D192Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D192Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	194					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D194Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCAGATGGGTCATGTTCAAAT	0.423																																					p.D192Y	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574T	6						.						268.0	258.0	262.0					6																	136599439		2203	4300	6503	136641132	SO:0001583	missense	9774	exon4			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.580G>T	6.37:g.136599439C>A	ENSP00000435210:p.Asp194Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	136641132	NM_001077440	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540264	0.65085	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.17959	0.0431	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.38415	-0.9662	10	0.62326	D	0.03	-4.0993	19.9831	0.97336	0.0:1.0:0.0:0.0	.	192;192;194;194	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Y	194;192;194;194;192;192;194	ENSP00000435210:D194Y;ENSP00000229446:D192Y;ENSP00000435441:D194Y;ENSP00000436501:D194Y;ENSP00000434826:D192Y;ENSP00000376159:D192Y;ENSP00000431734:D194Y	ENSP00000229446:D192Y	D	-	1	0	BCLAF1	136641132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.725000	0.54970	2.728000	0.93425	0.650000	0.86243	GAC		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
MAP7	9053	broad.mit.edu	37	6	136681169	136681169	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136681169G>A	ENST00000354570.3	-	14	2214	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	MAP7_ENST00000432797.2_Splice_Site_p.R456*|MAP7_ENST00000454590.1_Splice_Site_p.R624*|MAP7_ENST00000544465.1_Splice_Site_p.R587*|MAP7_ENST00000438100.2_Splice_Site_p.R587*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	602					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R602*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCCTCAAGTCGCTATAGGAAA	0.343																																					p.R624X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1870T	6						.						73.0	79.0	77.0					6																	136681169		2203	4300	6503	136722862	SO:0001630	splice_region_variant	9053	exon15			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1804-1C>T	6.37:g.136681169G>A		Somatic		Capture	Illumina HiSeq	Phase_I	136722862	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	38	7.059424	0.98036	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	.	.	.	5.95	4.12	0.48240	.	0.180747	0.26907	N	0.021882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5988	14.8848	0.70560	0.0:0.0:0.6091:0.3909	.	.	.	.	X	602;624;587;587;456;508	.	ENSP00000344217:R508X	R	-	1	2	MAP7	136722862	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.840000	0.55843	0.793000	0.33875	0.655000	0.94253	CGA		0.343	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	Nonsense_Mutation
MAP3K5	4217	broad.mit.edu	37	6	136977571	136977571	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:136977571A>C	ENST00000359015.4	-	10	1914	c.1554T>G	c.(1552-1554)atT>atG	p.I518M	MAP3K5_ENST00000355845.4_De_novo_Start_OutOfFrame	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	518					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.I518M(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TATATATTAAAATTGTCTCTA	0.393																																					p.I518M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1554G	6						.						113.0	107.0	109.0					6																	136977571		2203	4300	6503	137019264	SO:0001583	missense	4217	exon10			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1554T>G	6.37:g.136977571A>C	ENSP00000351908:p.Ile518Met	Somatic		Capture	Illumina HiSeq	Phase_I	137019264	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253965	0.59212	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.15017	2.46	5.74	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.999	D;D;D	0.91635	0.958;0.999;0.998	T	0.03008	-1.1083	10	0.59425	D	0.04	.	5.4277	0.16436	0.7275:0.0:0.1421:0.1304	.	598;363;518	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	M	518;598	ENSP00000351908:I518M	ENSP00000351908:I518M	I	-	3	3	MAP3K5	137019264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.559000	0.36320	1.002000	0.39104	0.533000	0.62120	ATT		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
RNF182	221687	broad.mit.edu	37	6	13977386	13977386	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:13977386T>A	ENST00000488300.1	+	3	559	c.36T>A	c.(34-36)tcT>tcA	p.S12S	RNF182_ENST00000537663.1_Silent_p.S12S|RNF182_ENST00000537388.1_Silent_p.S12S|RNF182_ENST00000544682.1_Silent_p.S12S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	12					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S12S(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CTGCGGAGTCTCAGGCCTCTG	0.463																																					p.S12S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T36A	6						.						110.0	113.0	112.0					6																	13977386		2203	4300	6503	14085365	SO:0001819	synonymous_variant	221687	exon4			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.36T>A	6.37:g.13977386T>A		Somatic		Capture	Illumina HiSeq	Phase_I	14085365	NM_001165032	B2RDG2|Q8NBG3	Silent	SNP	ENST00000488300.1	37	CCDS4531.1																																																																																				0.463	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737	
CD83	9308	broad.mit.edu	37	6	14131907	14131907	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:14131907A>G	ENST00000379153.3	+	3	481	c.310A>G	c.(310-312)Aca>Gca	p.T104A		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	104	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T104A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CAACTCGGGGACATACAGGTG	0.522																																					p.T104A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A310G	6						.						154.0	137.0	143.0					6																	14131907		2203	4300	6503	14239886	SO:0001583	missense	9308	exon3			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.310A>G	6.37:g.14131907A>G	ENSP00000368450:p.Thr104Ala	Somatic		Capture	Illumina HiSeq	Phase_I	14239886	NM_004233	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	A	0.256	-1.002877	0.02128	.	.	ENSG00000112149	ENST00000379153	T	0.70631	-0.5	5.61	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.053840	0.07339	N	0.880456	T	0.37265	0.0997	L	0.35854	1.095	0.09310	N	1	P	0.42078	0.77	B	0.37550	0.253	T	0.16070	-1.0415	10	0.22706	T	0.39	-1.5744	7.9601	0.30066	0.7857:0.1365:0.0778:0.0	.	104	Q01151	CD83_HUMAN	A	104	ENSP00000368450:T104A	ENSP00000368450:T104A	T	+	1	0	CD83	14239886	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.689000	0.37700	0.125000	0.18397	-1.139000	0.01908	ACA		0.522	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1		
HECA	51696	broad.mit.edu	37	6	139487776	139487776	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:139487776G>T	ENST00000367658.2	+	2	912	c.627G>T	c.(625-627)aaG>aaT	p.K209N	RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	209					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.K209N(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCTCCGAGAAGAACACAGGGA	0.607																																					p.K209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G627T	6						.						37.0	43.0	41.0					6																	139487776		2203	4300	6503	139529469	SO:0001583	missense	51696	exon2			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.627G>T	6.37:g.139487776G>T	ENSP00000356630:p.Lys209Asn	Somatic		Capture	Illumina HiSeq	Phase_I	139529469	NM_016217		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567583	0.65651	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.27	0.50696	.	0.049461	0.85682	D	0.000000	T	0.41650	0.1168	L	0.27053	0.805	0.58432	D	0.999999	D	0.56746	0.977	P	0.55923	0.787	T	0.43988	-0.9357	9	0.49607	T	0.09	.	13.4988	0.61442	0.0748:0.0:0.9252:0.0	.	209	Q9UBI9	HDC_HUMAN	N	209	.	ENSP00000356630:K209N	K	+	3	2	HECA	139529469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.040000	0.49799	1.402000	0.46780	0.655000	0.94253	AAG		0.607	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
GPR126	57211	broad.mit.edu	37	6	142630707	142630707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:142630707G>A	ENST00000230173.6	+	2	505	c.29G>A	c.(28-30)aGc>aAc	p.S10N	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.S10N|GPR126_ENST00000296932.8_Missense_Mutation_p.S10N|GPR126_ENST00000367609.3_Missense_Mutation_p.S10N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	10					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S10N(1)|p.S9N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CGAATGTGGAGCTGCCATTGG	0.393																																					p.S10N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G29A	6						.						89.0	86.0	87.0					6																	142630707		1876	4105	5981	142672400	SO:0001583	missense	57211	exon2			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.29G>A	6.37:g.142630707G>A	ENSP00000230173:p.Ser10Asn	Somatic		Capture	Illumina HiSeq	Phase_I	142672400	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842321	0.32513	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.25085	1.82;1.83;1.83;1.83;2.0;1.84	5.54	2.62	0.31277	.	0.916196	0.09285	N	0.823153	T	0.04998	0.0134	N	0.19112	0.55	0.19300	N	0.999977	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.001;0.003	T	0.44112	-0.9349	10	0.23302	T	0.38	.	7.1208	0.25444	0.3094:0.0:0.6906:0.0	.	10;10;10;10;9	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	N	10;10;10;10;9;9	ENSP00000230173:S10N;ENSP00000356580:S10N;ENSP00000296932:S10N;ENSP00000356581:S10N;ENSP00000446287:S9N;ENSP00000438366:S9N	ENSP00000230173:S10N	S	+	2	0	GPR126	142672400	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.686000	0.25392	0.312000	0.23038	0.557000	0.71058	AGC		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	broad.mit.edu	37	6	143074790	143074790	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:143074790G>A	ENST00000367604.1	-	9	7434	c.6795C>T	c.(6793-6795)ggC>ggT	p.G2265G	HIVEP2_ENST00000012134.2_Silent_p.G2265G|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.G2265G			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G2265G(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCCCTGACGCGCCTTTCTTCT	0.557																																					p.G2265G	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6795T	6						.						61.0	66.0	64.0					6																	143074790		1942	4132	6074	143116483	SO:0001819	synonymous_variant	3097	exon10			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6795C>T	6.37:g.143074790G>A		Somatic		Capture	Illumina HiSeq	Phase_I	143116483	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
AIG1	51390	broad.mit.edu	37	6	143458008	143458008	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:143458008A>G	ENST00000275235.4	+	2	203	c.178A>G	c.(178-180)Act>Gct	p.T60A	AIG1_ENST00000357847.4_Missense_Mutation_p.T60A|AIG1_ENST00000494282.2_Missense_Mutation_p.T60A|AIG1_ENST00000367598.5_Missense_Mutation_p.T60A|AIG1_ENST00000344492.5_Intron			Q9NVV5	AIG1_HUMAN	androgen-induced 1	60						integral component of membrane (GO:0016021)		p.T60A(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CTGTGTGCTGACTGATCTTTC	0.507																																					p.T60A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A178G	6						.						205.0	197.0	200.0					6																	143458008		2203	4300	6503	143499701	SO:0001583	missense	51390	exon2			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.178A>G	6.37:g.143458008A>G	ENSP00000275235:p.Thr60Ala	Somatic		Capture	Illumina HiSeq	Phase_I	143499701	NM_016108	B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	ENST00000275235.4	37		.	.	.	.	.	.	.	.	.	.	A	15.02	2.707953	0.48412	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000367598;ENST00000357847;ENST00000275235	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.91	5.91	0.95273	.	0.200602	0.51477	D	0.000094	T	0.09024	0.0223	L	0.38175	1.15	0.44508	D	0.997455	B;B;B;B	0.26002	0.019;0.114;0.015;0.139	B;B;B;B	0.28305	0.038;0.053;0.022;0.088	T	0.09684	-1.0663	10	0.11485	T	0.65	-10.4453	11.4291	0.50029	0.8654:0.0:0.0:0.1346	.	60;60;60;56	B4DPX2;Q9NVV5-2;Q9NVV5-5;E7ENG8	.;.;.;.	A	56;56;60;60;60	ENSP00000356573:T56A;ENSP00000356570:T60A;ENSP00000350509:T60A;ENSP00000275235:T60A	ENSP00000275235:T60A	T	+	1	0	AIG1	143499701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.495000	0.73665	2.269000	0.75478	0.533000	0.62120	ACT		0.507	AIG1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000042510.1	NM_016108	
UTRN	7402	broad.mit.edu	37	6	144803440	144803440	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:144803440G>T	ENST00000367545.3	+	26	3603	c.3603G>T	c.(3601-3603)caG>caT	p.Q1201H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1201					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q1201H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGGTGGCCAGGAGTTGACGT	0.448																																					p.Q1201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3603T	6						.						123.0	120.0	121.0					6																	144803440		2203	4300	6503	144845133	SO:0001583	missense	7402	exon26			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3603G>T	6.37:g.144803440G>T	ENSP00000356515:p.Gln1201His	Somatic		Capture	Illumina HiSeq	Phase_I	144845133	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498600	0.44455	.	.	ENSG00000152818	ENST00000367545	T	0.51574	0.7	5.51	4.46	0.54185	.	0.153325	0.30020	N	0.010609	T	0.22936	0.0554	N	0.02539	-0.55	0.80722	D	1	P	0.52316	0.952	P	0.54759	0.76	T	0.22521	-1.0214	10	0.44086	T	0.13	.	11.7034	0.51583	0.1516:0.0:0.8484:0.0	.	1201	P46939	UTRO_HUMAN	H	1201	ENSP00000356515:Q1201H	ENSP00000356515:Q1201H	Q	+	3	2	UTRN	144845133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.777000	0.26718	2.584000	0.87258	0.563000	0.77884	CAG		0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144838077	144838077	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:144838077A>C	ENST00000367545.3	+	38	5534	c.5534A>C	c.(5533-5535)aAa>aCa	p.K1845T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1845					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K1845T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGATACAACAAAATTAAGGTA	0.323																																					p.K1845T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5534C	6						.						63.0	65.0	64.0					6																	144838077		2203	4297	6500	144879770	SO:0001583	missense	7402	exon38			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5534A>C	6.37:g.144838077A>C	ENSP00000356515:p.Lys1845Thr	Somatic		Capture	Illumina HiSeq	Phase_I	144879770	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	2.129	-0.399466	0.04865	.	.	ENSG00000152818	ENST00000367545	T	0.38722	1.12	5.77	4.61	0.57282	.	0.106321	0.41823	D	0.000816	T	0.15565	0.0375	L	0.36672	1.1	0.80722	D	1	B	0.24533	0.105	B	0.21708	0.036	T	0.05022	-1.0911	10	0.25106	T	0.35	.	9.6238	0.39739	0.8111:0.0:0.1889:0.0	.	1845	P46939	UTRO_HUMAN	T	1845	ENSP00000356515:K1845T	ENSP00000356515:K1845T	K	+	2	0	UTRN	144879770	0.793000	0.28825	0.970000	0.41538	0.982000	0.71751	1.497000	0.35649	1.128000	0.42052	0.528000	0.53228	AAA		0.323	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	broad.mit.edu	37	6	146244873	146244873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:146244873C>A	ENST00000367505.2	-	18	3715	c.3451G>T	c.(3451-3453)Gaa>Taa	p.E1151*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.E1151*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.E1160*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.E1160*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1151					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1160*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATAGTAAATTCTATTGCTCTG	0.353																																					p.E1160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3478T	6						.						124.0	109.0	114.0					6																	146244873		1830	4090	5920	146286566	SO:0001587	stop_gained	257218	exon18			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3451G>T	6.37:g.146244873C>A	ENSP00000356475:p.Glu1151*	Somatic		Capture	Illumina HiSeq	Phase_I	146286566	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	45	11.823840	0.99607	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.1	4.21	0.49690	.	0.240114	0.35805	N	0.002979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.2939	12.1323	0.53950	0.0:0.5547:0.4453:0.0	.	.	.	.	X	1151;1160;1160;1151	.	ENSP00000275233:E1151X	E	-	1	0	SHPRH	146286566	1.000000	0.71417	0.798000	0.32154	0.984000	0.73092	7.099000	0.76981	2.374000	0.81015	0.591000	0.81541	GAA		0.353	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	broad.mit.edu	37	6	146276107	146276107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:146276107C>A	ENST00000367505.2	-	2	616	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.E118*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.E118*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.E118*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	118					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E118*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGTTAATTCTCCTAGAAAT	0.338																																					p.E118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G352T	6						.						71.0	66.0	67.0					6																	146276107		1806	4066	5872	146317800	SO:0001587	stop_gained	257218	exon2			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.352G>T	6.37:g.146276107C>A	ENSP00000356475:p.Glu118*	Somatic		Capture	Illumina HiSeq	Phase_I	146317800	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	41	8.628147	0.98890	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.66	5.66	0.87406	.	0.069812	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.1517	19.7365	0.96208	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000275233:E118X	E	-	1	0	SHPRH	146317800	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.977000	0.76141	2.672000	0.90937	0.655000	0.94253	GAA		0.338	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
STXBP5	134957	broad.mit.edu	37	6	147684799	147684799	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:147684799C>T	ENST00000321680.6	+	24	2874	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	STXBP5_ENST00000367480.3_Silent_p.C905C|STXBP5_ENST00000179882.6_Silent_p.C613C|STXBP5_ENST00000367481.3_Silent_p.C922C	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	958					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.C922C(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACAGTATCTGCCTTGCCTGTT	0.373																																					p.C922C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2766T	6						.						98.0	89.0	92.0					6																	147684799		2203	4300	6503	147726492	SO:0001819	synonymous_variant	134957	exon22			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2874C>T	6.37:g.147684799C>T		Somatic		Capture	Illumina HiSeq	Phase_I	147726492	NM_139244	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	CCDS47499.1																																																																																				0.373	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
SASH1	23328	broad.mit.edu	37	6	148865270	148865270	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:148865270C>T	ENST00000367467.3	+	18	3139	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	888					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.V888V(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACTCTGCTGTCGACAATGCAT	0.552																																					p.V888V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2664T	6						.						128.0	141.0	137.0					6																	148865270		2203	4300	6503	148906963	SO:0001819	synonymous_variant	23328	exon18			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2664C>T	6.37:g.148865270C>T		Somatic		Capture	Illumina HiSeq	Phase_I	148906963	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																				0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
ULBP1	80329	broad.mit.edu	37	6	150290457	150290457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:150290457G>T	ENST00000229708.3	+	3	629	c.586G>T	c.(586-588)Gaa>Taa	p.E196*		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	196	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.E196*(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTGGCTTGAAGAATTTTTGAT	0.448																																					p.E196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G586T	6						.						89.0	91.0	90.0					6																	150290457		2203	4300	6503	150332150	SO:0001587	stop_gained	80329	exon3			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.586G>T	6.37:g.150290457G>T	ENSP00000229708:p.Glu196*	Somatic		Capture	Illumina HiSeq	Phase_I	150332150	NM_025218	Q5VY81|Q8IZW3|Q8IZX6	Nonsense_Mutation	SNP	ENST00000229708.3	37	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	g	11.51	1.659116	0.29515	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	.	.	.	2.13	-4.26	0.03755	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.056	0.14533	0.241:0.0:0.5716:0.1874	.	.	.	.	X	196	.	ENSP00000229708:E196X	E	+	1	0	ULBP1	150332150	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-2.159000	0.01280	-1.561000	0.01684	0.195000	0.17529	GAA		0.448	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
RAET1L	154064	broad.mit.edu	37	6	150342081	150342081	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:150342081G>T	ENST00000367341.1	-	3	590	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F197L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	197	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.F197L(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TGCCCATCAAGAAGTCCTCAA	0.473																																					p.F197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C591A	6						.						214.0	196.0	202.0					6																	150342081		2203	4300	6503	150383774	SO:0001583	missense	154064	exon3			AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.591C>A	6.37:g.150342081G>T	ENSP00000356310:p.Phe197Leu	Somatic		Capture	Illumina HiSeq	Phase_I	150383774	NM_130900	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.934158	0.34096	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.08546	3.08;3.08	1.91	-1.48	0.08745	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.07773	0.0195	M	0.75264	2.295	0.09310	N	1	P	0.50943	0.94	P	0.59889	0.865	T	0.14476	-1.0471	9	0.87932	D	0	.	0.6739	0.00863	0.171:0.2399:0.3459:0.2431	.	197	Q5VY80	RET1L_HUMAN	L	197	ENSP00000356310:F197L;ENSP00000286380:F197L	ENSP00000286380:F197L	F	-	3	2	RAET1L	150383774	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.017000	0.12590	-0.450000	0.07107	0.491000	0.48974	TTC		0.473	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900	
MTHFD1L	25902	broad.mit.edu	37	6	151331063	151331063	+	Missense_Mutation	SNP	G	G	A	rs566588384		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:151331063G>A	ENST00000367321.3	+	21	2508	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	745	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.R745Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GCAACGGTGCGAGCTCTGAAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		15861	0.0		0.0	False		,,,				2504	0.001				p.R745Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2234A	6						.						90.0	87.0	88.0					6																	151331063		2203	4300	6503	151372756	SO:0001583	missense	25902	exon21			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2234G>A	6.37:g.151331063G>A	ENSP00000356290:p.Arg745Gln	Somatic		Capture	Illumina HiSeq	Phase_I	151372756	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659206	0.96734	.	.	ENSG00000120254	ENST00000367321	T	0.32023	1.47	4.43	4.43	0.53597	Formate-tetrahydrofolate ligase, FTHFS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.91510	3.215	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.994	P;D;P	0.66497	0.874;0.944;0.818	T	0.69907	-0.5018	10	0.72032	D	0.01	.	17.0632	0.86553	0.0:0.0:1.0:0.0	.	746;500;745	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Q	745	ENSP00000356290:R745Q	ENSP00000356290:R745Q	R	+	2	0	MTHFD1L	151372756	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.813000	0.99286	2.010000	0.58986	0.650000	0.86243	CGA		0.488	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
MTHFD1L	25902	broad.mit.edu	37	6	151355635	151355635	+	Missense_Mutation	SNP	A	A	C	rs373771820		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:151355635A>C	ENST00000367321.3	+	25	2867	c.2593A>C	c.(2593-2595)Att>Ctt	p.I865L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	865	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.I865L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCAGGTTCCAATTGTGGACAA	0.343																																					p.I865L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2593C	6						.						64.0	65.0	65.0					6																	151355635		2203	4300	6503	151397328	SO:0001583	missense	25902	exon25			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2593A>C	6.37:g.151355635A>C	ENSP00000356290:p.Ile865Leu	Somatic		Capture	Illumina HiSeq	Phase_I	151397328	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144802	0.21288	.	.	ENSG00000120254	ENST00000367321	T	0.20881	2.04	5.22	2.82	0.32997	.	0.099543	0.64402	D	0.000003	T	0.05273	0.0140	N	0.20574	0.59	0.80722	D	1	B;B;B	0.16396	0.017;0.002;0.004	B;B;B	0.21708	0.036;0.029;0.013	T	0.21245	-1.0251	10	0.19147	T	0.46	.	13.0584	0.58994	0.9293:0.0:0.0707:0.0	.	866;620;865	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	L	865	ENSP00000356290:I865L	ENSP00000356290:I865L	I	+	1	0	MTHFD1L	151397328	0.982000	0.34865	1.000000	0.80357	0.912000	0.54170	2.754000	0.47532	0.393000	0.25203	-1.366000	0.01203	ATT		0.343	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
AKAP12	9590	broad.mit.edu	37	6	151672096	151672096	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:151672096G>T	ENST00000253332.1	+	3	2759	c.2570G>T	c.(2569-2571)aGg>aTg	p.R857M	AKAP12_ENST00000402676.2_Missense_Mutation_p.R857M|AKAP12_ENST00000359755.5_Missense_Mutation_p.R752M|AKAP12_ENST00000354675.6_Missense_Mutation_p.R759M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	857					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.R857M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTGTAGAAAGGGAGAAAATG	0.567																																					p.R857M	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2570T	6						.						90.0	101.0	97.0					6																	151672096		2203	4300	6503	151713789	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2570G>T	6.37:g.151672096G>T	ENSP00000253332:p.Arg857Met	Somatic		Capture	Illumina HiSeq	Phase_I	151713789	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799214	0.50208	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08720	3.06;3.06;3.07;3.07	5.49	2.29	0.28610	.	0.293298	0.24766	N	0.035767	T	0.05273	0.0140	M	0.72118	2.19	0.38280	D	0.94241	P;P;P	0.47191	0.891;0.891;0.826	P;P;B	0.45610	0.487;0.487;0.292	T	0.18618	-1.0331	10	0.52906	T	0.07	.	3.6163	0.08078	0.3193:0.0:0.4954:0.1853	.	752;759;857	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	857;857;759;752	ENSP00000384537:R857M;ENSP00000253332:R857M;ENSP00000346702:R759M;ENSP00000352794:R752M	ENSP00000253332:R857M	R	+	2	0	AKAP12	151713789	1.000000	0.71417	0.970000	0.41538	0.470000	0.32858	1.505000	0.35736	0.688000	0.31529	-1.156000	0.01807	AGG		0.567	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	broad.mit.edu	37	6	151672797	151672797	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:151672797G>A	ENST00000253332.1	+	3	3460	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N	AKAP12_ENST00000402676.2_Missense_Mutation_p.D1091N|AKAP12_ENST00000359755.5_Missense_Mutation_p.D986N|AKAP12_ENST00000354675.6_Missense_Mutation_p.D993N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1091					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.D1091N(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAAGAGACGGATGTAGTGTT	0.532																																					p.D1091N	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3271A	6						.						52.0	53.0	53.0					6																	151672797		2203	4300	6503	151714490	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3271G>A	6.37:g.151672797G>A	ENSP00000253332:p.Asp1091Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151714490	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129673	0.56721	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09073	3.02;3.02;3.04;3.04	4.94	-0.65	0.11457	.	0.763149	0.11187	N	0.590374	T	0.01800	0.0057	L	0.32530	0.975	0.09310	N	1	P;P;P	0.37276	0.589;0.589;0.454	B;B;B	0.36608	0.229;0.229;0.115	T	0.46205	-0.9208	10	0.20519	T	0.43	.	7.0946	0.25303	0.0724:0.351:0.468:0.1086	.	986;993;1091	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	1091;1091;993;986	ENSP00000384537:D1091N;ENSP00000253332:D1091N;ENSP00000346702:D993N;ENSP00000352794:D986N	ENSP00000253332:D1091N	D	+	1	0	AKAP12	151714490	0.001000	0.12720	0.000000	0.03702	0.132000	0.20833	0.785000	0.26830	0.117000	0.18138	0.455000	0.32223	GAT		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
CCDC170	80129	broad.mit.edu	37	6	151865710	151865710	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:151865710G>A	ENST00000239374.7	+	4	546	c.447G>A	c.(445-447)aaG>aaA	p.K149K	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Silent_p.K149K	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	149								p.K149K(1)									CTAACAGAAAGTGTTCAAAAG	0.353																																					p.K149K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	6						.						63.0	60.0	61.0					6																	151865710		1840	4087	5927	151907403	SO:0001819	synonymous_variant	80129	exon4			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.447G>A	6.37:g.151865710G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151907403	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
ESR1	2099	broad.mit.edu	37	6	152129072	152129072	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152129072G>A	ENST00000206249.3	+	1	387	c.25G>A	c.(25-27)Gca>Aca	p.A9T	ESR1_ENST00000440973.1_Missense_Mutation_p.A9T|ESR1_ENST00000338799.5_Missense_Mutation_p.A9T|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000406599.1_Missense_Mutation_p.A9T|ESR1_ENST00000443427.1_Missense_Mutation_p.A9T|ESR1_ENST00000456483.2_Missense_Mutation_p.A9T	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	9	Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A9T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCACACCAAAGCATCTGGGAT	0.662																																					p.A9T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	6						.						34.0	32.0	33.0					6																	152129072		2203	4300	6503	152170765	SO:0001583	missense	2099	exon2			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.25G>A	6.37:g.152129072G>A	ENSP00000206249:p.Ala9Thr	Somatic		Capture	Illumina HiSeq	Phase_I	152170765	NM_001122741	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	0.229	-1.022483	0.02061	.	.	ENSG00000091831	ENST00000404742;ENST00000440973;ENST00000338799;ENST00000456483;ENST00000446550;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	T;D;D;D;T;D;D;T	0.92595	0.78;-3.07;-3.07;-2.63;0.79;-3.07;-3.07;-0.57	5.06	3.07	0.35406	.	0.464574	0.24748	N	0.035939	T	0.56470	0.1987	N	0.01267	-0.92	0.80722	D	1	B;B;B;B	0.26483	0.15;0.001;0.002;0.001	B;B;B;B	0.26310	0.068;0.002;0.004;0.002	T	0.62086	-0.6928	10	0.10636	T	0.68	.	4.0934	0.09980	0.2546:0.0:0.5437:0.2017	.	9;9;9;9	Q9H2M1;A8KAF4;G4XH65;P03372	.;.;.;ESR1_HUMAN	T	9	ENSP00000385373:A9T;ENSP00000405330:A9T;ENSP00000342630:A9T;ENSP00000415934:A9T;ENSP00000411105:A9T;ENSP00000387500:A9T;ENSP00000206249:A9T;ENSP00000384064:A9T	ENSP00000206249:A9T	A	+	1	0	ESR1	152170765	1.000000	0.71417	0.995000	0.50966	0.129000	0.20672	2.208000	0.42797	2.349000	0.79799	0.563000	0.77884	GCA		0.662	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
ESR1	2099	broad.mit.edu	37	6	152201885	152201885	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152201885G>A	ENST00000206249.3	+	3	1101	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ESR1_ENST00000440973.1_Missense_Mutation_p.E247K|ESR1_ENST00000338799.5_Missense_Mutation_p.E247K|ESR1_ENST00000427531.2_Missense_Mutation_p.E74K|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.E247K|ESR1_ENST00000456483.2_Missense_Mutation_p.E247K	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	247	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E247K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TAAATGCTACGAAGTGGGAAT	0.542																																					p.E247K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	6						.						51.0	51.0	51.0					6																	152201885		2203	4300	6503	152243578	SO:0001583	missense	2099	exon4			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.739G>A	6.37:g.152201885G>A	ENSP00000206249:p.Glu247Lys	Somatic		Capture	Illumina HiSeq	Phase_I	152243578	NM_001122741	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759890	0.96898	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	5.42	5.42	0.78866	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.046732	0.85682	D	0.000000	D	0.96433	0.8836	N	0.16602	0.42	0.80722	D	1	D;D;P;D;D	0.89917	0.992;0.999;0.926;1.0;1.0	P;D;P;D;D	0.81914	0.702;0.989;0.61;0.991;0.995	D	0.98221	1.0478	10	0.87932	D	0	.	19.2083	0.93744	0.0:0.0:1.0:0.0	.	28;54;247;247;247	E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.;.;.;.;ESR1_HUMAN	K	247;247;247;28;247;247;72;175;74;32	ENSP00000405330:E247K;ENSP00000342630:E247K;ENSP00000415934:E247K;ENSP00000387500:E247K;ENSP00000206249:E247K;ENSP00000445454:E74K;ENSP00000401995:E32K	ENSP00000206249:E247K	E	+	1	0	ESR1	152243578	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.620000	0.98373	2.563000	0.86464	0.655000	0.94253	GAA		0.542	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	broad.mit.edu	37	6	152476106	152476106	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152476106G>T	ENST00000367255.5	-	133	24651	c.24050C>A	c.(24049-24051)tCt>tAt	p.S8017Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S7946Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7629Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8017Y|SYNE1_ENST00000539504.1_Missense_Mutation_p.S172Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2541Y|SYNE1_ENST00000354674.4_Missense_Mutation_p.S172Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7946Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8017					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S8017Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTTCTGAAGACTTCAGCCA	0.408										HNSCC(10;0.0054)																											p.S179Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C536A	6						.						106.0	114.0	111.0					6																	152476106		2203	4300	6503	152517799	SO:0001583	missense	23345	exon5			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24050C>A	6.37:g.152476106G>T	ENSP00000356224:p.Ser8017Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	152517799	NM_133650	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875565	0.33162	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.86	-4.28	0.03732	.	0.939761	0.08843	N	0.885521	T	0.43389	0.1245	L	0.38175	1.15	0.09310	N	1	B;B;B;B;P	0.37176	0.048;0.004;0.026;0.015;0.586	B;B;B;B;B	0.42495	0.027;0.001;0.009;0.004;0.389	T	0.47873	-0.9083	10	0.56958	D	0.05	.	2.5008	0.04633	0.3608:0.0986:0.3492:0.1915	.	8017;8017;7946;7946;219	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Y	8017;172;663;7946;8017;7946;7629;2541;179;174;939;172	ENSP00000356224:S8017Y;ENSP00000441052:S172Y;ENSP00000356226:S663Y;ENSP00000396024:S7946Y;ENSP00000265368:S8017Y;ENSP00000390975:S7946Y;ENSP00000341887:S7629Y;ENSP00000349276:S2541Y;ENSP00000356220:S939Y;ENSP00000346701:S172Y	ENSP00000265368:S8017Y	S	-	2	0	SYNE1	152517799	0.000000	0.05858	0.309000	0.25155	0.975000	0.68041	0.121000	0.15667	-0.670000	0.05282	-0.290000	0.09829	TCT		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152523035	152523035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152523035C>T	ENST00000367255.5	-	127	23670	c.23069G>A	c.(23068-23070)cGa>cAa	p.R7690Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7619Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7302Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7690Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2214Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7619Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7690					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R7690Q(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGAAAGTTCGTAGTTTCTC	0.393										HNSCC(10;0.0054)																											p.R2214Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6641A	6						.						90.0	96.0	94.0					6																	152523035		2203	4300	6503	152564728	SO:0001583	missense	23345	exon42			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23069G>A	6.37:g.152523035C>T	ENSP00000356224:p.Arg7690Gln	Somatic		Capture	Illumina HiSeq	Phase_I	152564728	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867828	0.51588	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.98	5.11	0.69529	.	0.000000	0.56097	D	0.000028	T	0.76140	0.3946	L	0.56124	1.755	0.46774	D	0.999195	D;D;D;D	0.76494	0.995;0.995;0.999;0.997	P;P;P;P	0.57152	0.656;0.656;0.814;0.656	T	0.79553	-0.1756	10	0.59425	D	0.04	.	11.9852	0.53142	0.0:0.8621:0.0:0.1379	.	7690;7690;7619;7619	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Q	7690;336;7619;7690;7619;7302;2214;612	ENSP00000356224:R7690Q;ENSP00000356226:R336Q;ENSP00000396024:R7619Q;ENSP00000265368:R7690Q;ENSP00000390975:R7619Q;ENSP00000341887:R7302Q;ENSP00000349276:R2214Q;ENSP00000356220:R612Q	ENSP00000265368:R7690Q	R	-	2	0	SYNE1	152564728	1.000000	0.71417	0.247000	0.24249	0.950000	0.60333	4.084000	0.57650	1.541000	0.49316	0.591000	0.81541	CGA		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152545656	152545656	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152545656A>G	ENST00000367255.5	-	117	22096	c.21495T>C	c.(21493-21495)gcT>gcC	p.A7165A	SYNE1_ENST00000423061.1_Silent_p.A7094A|SYNE1_ENST00000341594.5_Silent_p.A6777A|SYNE1_ENST00000265368.4_Silent_p.A7165A|SYNE1_ENST00000356820.4_Silent_p.A1689A|SYNE1_ENST00000448038.1_Silent_p.A7094A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A7165A(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTTGCACAGCTTCTAAGG	0.403										HNSCC(10;0.0054)																											p.A1689A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5067C	6						.						98.0	93.0	94.0					6																	152545656		2203	4300	6503	152587349	SO:0001819	synonymous_variant	23345	exon32			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21495T>C	6.37:g.152545656A>G		Somatic		Capture	Illumina HiSeq	Phase_I	152587349	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152576147	152576147	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152576147C>A	ENST00000367255.5	-	104	19939	c.19338G>T	c.(19336-19338)gaG>gaT	p.E6446D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E6375D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6058D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6446D|SYNE1_ENST00000356820.4_Missense_Mutation_p.E970D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6375D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6446					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E6446D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCACCATTCTCTGGAAAAG	0.373										HNSCC(10;0.0054)																											p.E970D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2910T	6						.						101.0	92.0	95.0					6																	152576147		2203	4300	6503	152617840	SO:0001583	missense	23345	exon19			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19338G>T	6.37:g.152576147C>A	ENSP00000356224:p.Glu6446Asp	Somatic		Capture	Illumina HiSeq	Phase_I	152617840	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688890	0.14973	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55588	0.6;0.59;0.51;0.59;0.71;2.62	5.87	2.72	0.32119	.	0.104252	0.42682	D	0.000680	T	0.18467	0.0443	L	0.31294	0.92	0.26457	N	0.975501	B;B;B	0.19200	0.011;0.011;0.034	B;B;B	0.18871	0.006;0.006;0.023	T	0.17531	-1.0366	10	0.26408	T	0.33	.	10.4958	0.44777	0.0:0.7109:0.0:0.2891	.	6446;6446;6375	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	D	6446;6375;6446;6375;6058;970	ENSP00000356224:E6446D;ENSP00000396024:E6375D;ENSP00000265368:E6446D;ENSP00000390975:E6375D;ENSP00000341887:E6058D;ENSP00000349276:E970D	ENSP00000265368:E6446D	E	-	3	2	SYNE1	152617840	0.732000	0.28121	0.910000	0.35882	0.148000	0.21650	0.154000	0.16343	0.831000	0.34780	-0.136000	0.14681	GAG		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152590378	152590378	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152590378G>A	ENST00000367255.5	-	99	19218	c.18617C>T	c.(18616-18618)gCc>gTc	p.A6206V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A6135V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5818V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A6206V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A730V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A6135V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6206					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A6206V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGCGTGGCTGTTAGGTC	0.537										HNSCC(10;0.0054)																											p.A730V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2189T	6						.						160.0	124.0	136.0					6																	152590378		2203	4300	6503	152632071	SO:0001583	missense	23345	exon14			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18617C>T	6.37:g.152590378G>A	ENSP00000356224:p.Ala6206Val	Somatic		Capture	Illumina HiSeq	Phase_I	152632071	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269841	0.40095	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54675	0.65;0.64;0.56;0.64;0.75;1.01	5.57	3.75	0.43078	.	0.313714	0.27270	N	0.020123	T	0.28234	0.0697	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28055	0.075;0.075;0.199	B;B;B	0.30572	0.055;0.055;0.117	T	0.14839	-1.0458	10	0.29301	T	0.29	.	13.1112	0.59275	0.0:0.1229:0.7491:0.128	.	6206;6206;6135	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6206;6135;6206;6135;5818;730	ENSP00000356224:A6206V;ENSP00000396024:A6135V;ENSP00000265368:A6206V;ENSP00000390975:A6135V;ENSP00000341887:A5818V;ENSP00000349276:A730V	ENSP00000265368:A6206V	A	-	2	0	SYNE1	152632071	1.000000	0.71417	0.002000	0.10522	0.290000	0.27261	5.995000	0.70631	0.786000	0.33708	0.655000	0.94253	GCC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152638050	152638050	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152638050G>A	ENST00000367255.5	-	87	17245	c.16644C>T	c.(16642-16644)gtC>gtT	p.V5548V	SYNE1_ENST00000423061.1_Silent_p.V5477V|SYNE1_ENST00000341594.5_Silent_p.V5160V|SYNE1_ENST00000265368.4_Silent_p.V5548V|SYNE1_ENST00000356820.4_Silent_p.V72V|SYNE1_ENST00000448038.1_Silent_p.V5477V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5548					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V5548V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGAGCCAAGACTTTAGCTT	0.328										HNSCC(10;0.0054)																											p.V72V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C216T	6						.						124.0	122.0	122.0					6																	152638050		2203	4300	6503	152679743	SO:0001819	synonymous_variant	23345	exon2			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16644C>T	6.37:g.152638050G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152679743	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152646405	152646405	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152646405C>T	ENST00000367255.5	-	81	16072	c.15471G>A	c.(15469-15471)gaG>gaA	p.E5157E	SYNE1_ENST00000423061.1_Silent_p.E5086E|SYNE1_ENST00000341594.5_Silent_p.E4850E|SYNE1_ENST00000265368.4_Silent_p.E5157E|SYNE1_ENST00000448038.1_Silent_p.E5086E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5157					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E5157E(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACAATTTTCTCATGGAAAG	0.473										HNSCC(10;0.0054)																											p.E5086E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G15258A	6						.						118.0	120.0	119.0					6																	152646405		2203	4300	6503	152688098	SO:0001819	synonymous_variant	23345	exon80			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15471G>A	6.37:g.152646405C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152688098	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152652612	152652612	+	Missense_Mutation	SNP	G	G	A	rs139490297		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152652612G>A	ENST00000367255.5	-	78	13809	c.13208C>T	c.(13207-13209)tCg>tTg	p.S4403L	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4332L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4268L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4403L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4332L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4403					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S4403L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTATAAGCGATTTCAGGAG	0.522										HNSCC(10;0.0054)																											p.S4332L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C12995T	6						.	G	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	76.0	70.0	72.0		12995,13208	5.8	0.0	6	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	145,145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	4332/8750,4403/8798	152652612	2,13004	2203	4300	6503	152694305	SO:0001583	missense	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13208C>T	6.37:g.152652612G>A	ENSP00000356224:p.Ser4403Leu	Somatic		Capture	Illumina HiSeq	Phase_I	152694305	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.298	-0.605601	0.03717	4.54E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.110599	0.41097	D	0.000956	T	0.11153	0.0272	L	0.40543	1.245	0.30199	N	0.798764	P;P;P;P	0.39601	0.68;0.552;0.552;0.68	B;B;B;B	0.26864	0.074;0.023;0.023;0.047	T	0.11542	-1.0583	10	0.22109	T	0.4	.	11.5227	0.50560	0.0688:0.1266:0.8046:0.0	.	4403;4403;4403;4332	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	4403;4332;4403;4332;4268	ENSP00000356224:S4403L;ENSP00000396024:S4332L;ENSP00000265368:S4403L;ENSP00000390975:S4332L;ENSP00000341887:S4268L	ENSP00000265368:S4403L	S	-	2	0	SYNE1	152694305	0.975000	0.34042	0.044000	0.18714	0.058000	0.15608	2.757000	0.47557	2.760000	0.94817	0.655000	0.94253	TCG		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152655198	152655198	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152655198T>G	ENST00000367255.5	-	77	13340	c.12739A>C	c.(12739-12741)Aat>Cat	p.N4247H	SYNE1_ENST00000423061.1_Missense_Mutation_p.N4176H|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4112H|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4247H|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4176H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4247					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.N4247H(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAACAACATTCATACAGTCA	0.413										HNSCC(10;0.0054)																											p.N4176H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A12526C	6						.						177.0	170.0	173.0					6																	152655198		2203	4300	6503	152696891	SO:0001583	missense	23345	exon76			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12739A>C	6.37:g.152655198T>G	ENSP00000356224:p.Asn4247His	Somatic		Capture	Illumina HiSeq	Phase_I	152696891	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	4.405	0.074765	0.08485	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.71	3.28	0.37604	.	0.367844	0.26010	N	0.026890	T	0.14098	0.0341	L	0.57536	1.79	0.43107	D	0.994801	B;B;B;B	0.11235	0.002;0.001;0.001;0.004	B;B;B;B	0.12837	0.006;0.001;0.001;0.008	T	0.07635	-1.0762	10	0.14656	T	0.56	.	8.7965	0.34883	0.0:0.0664:0.128:0.8056	.	4247;4247;4247;4176	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4247;4176;4247;4176;4112	ENSP00000356224:N4247H;ENSP00000396024:N4176H;ENSP00000265368:N4247H;ENSP00000390975:N4176H;ENSP00000341887:N4112H	ENSP00000265368:N4247H	N	-	1	0	SYNE1	152696891	0.884000	0.30299	0.098000	0.21074	0.301000	0.27625	1.106000	0.31098	0.423000	0.26033	0.533000	0.62120	AAT		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152673421	152673421	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152673421G>A	ENST00000367255.5	-	70	11922	c.11321C>T	c.(11320-11322)gCt>gTt	p.A3774V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3759V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3745V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3774V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3759V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3774					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A3774V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTATTTAACAGCCCTCTCTCC	0.468										HNSCC(10;0.0054)																											p.A3759V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11276T	6						.						135.0	124.0	128.0					6																	152673421		2203	4300	6503	152715114	SO:0001583	missense	23345	exon70			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11321C>T	6.37:g.152673421G>A	ENSP00000356224:p.Ala3774Val	Somatic		Capture	Illumina HiSeq	Phase_I	152715114	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477657	0.26511	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000023	T	0.12902	0.0313	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.26318	0.146;0.146;0.146;0.119	B;B;B;B	0.25506	0.038;0.038;0.038;0.061	T	0.04053	-1.0981	10	0.11794	T	0.64	.	10.6555	0.45673	0.1415:0.0:0.8585:0.0	.	3774;3774;3774;3759	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3774;3759;3774;3759;3745	ENSP00000356224:A3774V;ENSP00000396024:A3759V;ENSP00000265368:A3774V;ENSP00000390975:A3759V;ENSP00000341887:A3745V	ENSP00000265368:A3774V	A	-	2	0	SYNE1	152715114	1.000000	0.71417	0.574000	0.28523	0.236000	0.25371	6.488000	0.73637	2.818000	0.97014	0.591000	0.81541	GCT		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152688429	152688429	+	Missense_Mutation	SNP	G	G	A	rs373760161		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152688429G>A	ENST00000367255.5	-	62	10497	c.9896C>T	c.(9895-9897)gCg>gTg	p.A3299V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3306V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3338V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3306V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A3299V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGTGAATCGCATCCGTCAT	0.453										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17500	0.0		0.0	False		,,,				2504	0.001				p.A3306V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9917T	6						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	202.0	177.0	185.0		9917,9896	4.4	0.0	6		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	3306/8750,3299/8798	152688429	1,13005	2203	4300	6503	152730122	SO:0001583	missense	23345	exon62			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9896C>T	6.37:g.152688429G>A	ENSP00000356224:p.Ala3299Val	Somatic		Capture	Illumina HiSeq	Phase_I	152730122	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.90|16.90	3.249372|3.249372	0.59103|0.59103	0.0|0.0	1.16E-4|1.16E-4	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.53423|.	1.29;0.64;1.29;0.65;0.62|.	6.17|6.17	4.41|4.41	0.53225|0.53225	.|.	0.287355|.	0.29980|.	N|.	0.010710|.	T|.	0.45236|.	0.1332|.	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	P;P;D;P;P|.	0.69078|.	0.788;0.788;0.997;0.788;0.919|.	B;B;P;B;P|.	0.58210|.	0.322;0.322;0.835;0.322;0.522|.	T|.	0.39961|.	-0.9588|.	10|.	0.19590|.	T|.	0.45|.	.|.	13.2435|13.2435	0.60010|0.60010	0.1281:0.0:0.8719:0.0|0.1281:0.0:0.8719:0.0	.|.	3299;3299;416;3299;3306|.	B7ZBC3;Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	.;SYNE1_HUMAN;.;.;.|.	V|X	3299;3306;3299;3306;3338|416	ENSP00000356224:A3299V;ENSP00000396024:A3306V;ENSP00000265368:A3299V;ENSP00000390975:A3306V;ENSP00000341887:A3338V|.	ENSP00000265368:A3299V|.	A|R	-|-	2|1	0|2	SYNE1|SYNE1	152730122|152730122	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.639000|0.639000	0.38242|0.38242	6.396000|6.396000	0.73234|0.73234	0.945000|0.945000	0.37605|0.37605	-0.150000|-0.150000	0.13652|0.13652	GCG|CGA		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152711567	152711567	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152711567A>G	ENST00000367255.5	-	53	8626	c.8025T>C	c.(8023-8025)ggT>ggC	p.G2675G	SYNE1_ENST00000423061.1_Silent_p.G2682G|SYNE1_ENST00000341594.5_Silent_p.G2714G|SYNE1_ENST00000265368.4_Silent_p.G2675G|SYNE1_ENST00000448038.1_Silent_p.G2682G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2675					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G2675G(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCCCCTTCACCTTTCATCA	0.403										HNSCC(10;0.0054)																											p.G2682G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T8046C	6						.						122.0	99.0	107.0					6																	152711567		2203	4300	6503	152753260	SO:0001819	synonymous_variant	23345	exon53			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8025T>C	6.37:g.152711567A>G		Somatic		Capture	Illumina HiSeq	Phase_I	152753260	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152716674	152716674	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152716674A>C	ENST00000367255.5	-	51	8290	c.7689T>G	c.(7687-7689)ttT>ttG	p.F2563L	SYNE1_ENST00000423061.1_Missense_Mutation_p.F2570L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F2602L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F2563L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F2570L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2563					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F2563L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTCCCAAAAACATTTCAA	0.403										HNSCC(10;0.0054)																											p.F2570L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7710G	6						.						166.0	159.0	162.0					6																	152716674		2203	4300	6503	152758367	SO:0001583	missense	23345	exon51			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7689T>G	6.37:g.152716674A>C	ENSP00000356224:p.Phe2563Leu	Somatic		Capture	Illumina HiSeq	Phase_I	152758367	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524190	0.44866	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.56	3.17	0.36434	.	0.000000	0.64402	D	0.000008	T	0.15176	0.0366	L	0.53249	1.67	0.80722	D	1	P;B;B;P	0.52170	0.894;0.087;0.087;0.951	P;B;B;P	0.50860	0.535;0.032;0.032;0.652	T	0.27226	-1.0080	10	0.02654	T	1	.	9.2897	0.37780	0.784:0.0:0.216:0.0	.	2546;2563;2563;2570	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	2563;2570;2563;2570;2602	ENSP00000356224:F2563L;ENSP00000396024:F2570L;ENSP00000265368:F2563L;ENSP00000390975:F2570L;ENSP00000341887:F2602L	ENSP00000265368:F2563L	F	-	3	2	SYNE1	152758367	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	1.666000	0.37460	0.393000	0.25203	0.533000	0.62120	TTT		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152774790	152774790	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152774790G>A	ENST00000367255.5	-	25	3559	c.2958C>T	c.(2956-2958)acC>acT	p.T986T	SYNE1_ENST00000423061.1_Silent_p.T993T|SYNE1_ENST00000495090.2_Silent_p.T553T|SYNE1_ENST00000341594.5_Silent_p.T1052T|SYNE1_ENST00000413186.2_Silent_p.T986T|SYNE1_ENST00000265368.4_Silent_p.T986T|SYNE1_ENST00000367253.4_Silent_p.T986T|SYNE1_ENST00000367248.3_Silent_p.T976T|SYNE1_ENST00000448038.1_Silent_p.T993T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	986					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T986T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGGATGTCGGTGAGTTCAT	0.527										HNSCC(10;0.0054)																											p.T993T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2979T	6						.						130.0	119.0	123.0					6																	152774790		2203	4300	6503	152816483	SO:0001819	synonymous_variant	23345	exon25			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2958C>T	6.37:g.152774790G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152816483	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152782858	152782858	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152782858C>A	ENST00000367255.5	-	21	2869	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	SYNE1_ENST00000423061.1_Silent_p.V763V|SYNE1_ENST00000495090.2_Silent_p.V323V|SYNE1_ENST00000341594.5_Silent_p.V763V|SYNE1_ENST00000413186.2_Silent_p.V756V|SYNE1_ENST00000265368.4_Silent_p.V756V|SYNE1_ENST00000367253.4_Silent_p.V756V|SYNE1_ENST00000367248.3_Silent_p.V746V|SYNE1_ENST00000448038.1_Silent_p.V763V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	756					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V756V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATCACAGGCACCCTCTGCT	0.418										HNSCC(10;0.0054)																											p.V763V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2289T	6						.						142.0	130.0	134.0					6																	152782858		2203	4300	6503	152824551	SO:0001819	synonymous_variant	23345	exon21			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2268G>T	6.37:g.152782858C>A		Somatic		Capture	Illumina HiSeq	Phase_I	152824551	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152831500	152831500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152831500C>A	ENST00000367255.5	-	8	1010	c.409G>T	c.(409-411)Gag>Tag	p.E137*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E144*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E137*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.E137*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E137*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E137*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.E144*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.E137*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E144*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	137	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E137*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGTCAACTCTTCAATCTGT	0.438										HNSCC(10;0.0054)																											p.E144X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G430T	6						.						74.0	65.0	68.0					6																	152831500		2203	4300	6503	152873193	SO:0001587	stop_gained	23345	exon8			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.409G>T	6.37:g.152831500C>A	ENSP00000356224:p.Glu137*	Somatic		Capture	Illumina HiSeq	Phase_I	152873193	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	37	6.338290	0.97485	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7497	0.96263	0.0:1.0:0.0:0.0	.	.	.	.	X	137;144;137;144;137;137;144;137;137;137	.	ENSP00000265368:E137X	E	-	1	0	SYNE1	152873193	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.818000	0.86416	2.682000	0.91365	0.637000	0.83480	GAG		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152832217	152832217	+	Missense_Mutation	SNP	A	A	G	rs371647195		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152832217A>G	ENST00000367255.5	-	7	932	c.331T>C	c.(331-333)Tcc>Ccc	p.S111P	SYNE1_ENST00000423061.1_Missense_Mutation_p.S118P|SYNE1_ENST00000341594.5_Missense_Mutation_p.S111P|SYNE1_ENST00000413186.2_Missense_Mutation_p.S111P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S111P|SYNE1_ENST00000367253.4_Missense_Mutation_p.S111P|SYNE1_ENST00000367248.3_Missense_Mutation_p.S118P|SYNE1_ENST00000466159.2_Missense_Mutation_p.S111P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S118P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	111	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S111P(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATATCGGTGGAGTTAATGTTG	0.328										HNSCC(10;0.0054)																											p.S118P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T352C	6						.						140.0	144.0	143.0					6																	152832217		2203	4300	6503	152873910	SO:0001583	missense	23345	exon7			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.331T>C	6.37:g.152832217A>G	ENSP00000356224:p.Ser111Pro	Somatic		Capture	Illumina HiSeq	Phase_I	152873910	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363110	0.41902	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	5.65	3.15	0.36227	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.233079	0.30501	N	0.009482	D	0.90490	0.7021	N	0.05510	-0.035	0.80722	D	1	D;D;P;D;D	0.54601	0.96;0.967;0.901;0.967;0.959	P;P;P;P;P	0.59643	0.832;0.861;0.636;0.861;0.782	D	0.91415	0.5154	10	0.66056	D	0.02	.	12.2821	0.54769	0.7219:0.2781:0.0:0.0	.	111;111;111;111;118	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	P	111;118;111;118;111;111;118;111;111;111	ENSP00000356224:S111P;ENSP00000396024:S118P;ENSP00000265368:S111P;ENSP00000390975:S118P;ENSP00000341887:S111P;ENSP00000356222:S111P;ENSP00000356217:S118P;ENSP00000414510:S111P;ENSP00000446021:S111P;ENSP00000441264:S111P	ENSP00000265368:S111P	S	-	1	0	SYNE1	152873910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.991000	0.49409	0.371000	0.24564	0.519000	0.50382	TCC		0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152841606	152841606	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152841606G>A	ENST00000367255.5	-	6	898	c.297C>T	c.(295-297)ctC>ctT	p.L99L	SYNE1_ENST00000423061.1_Silent_p.L99L|SYNE1_ENST00000341594.5_Silent_p.L99L|SYNE1_ENST00000413186.2_Silent_p.L99L|SYNE1_ENST00000265368.4_Silent_p.L99L|SYNE1_ENST00000367253.4_Silent_p.L99L|SYNE1_ENST00000367248.3_Silent_p.L99L|SYNE1_ENST00000466159.2_Silent_p.L99L|SYNE1_ENST00000448038.1_Silent_p.L99L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	99	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L99L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCCTTCGAGGAACTTGA	0.443										HNSCC(10;0.0054)																											p.L99L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C297T	6						.						144.0	143.0	143.0					6																	152841606		2203	4300	6503	152883299	SO:0001819	synonymous_variant	23345	exon5			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.297C>T	6.37:g.152841606G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152883299	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
RGS17	26575	broad.mit.edu	37	6	153347612	153347612	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:153347612C>T	ENST00000367225.2	-	2	210	c.186G>A	c.(184-186)gaG>gaA	p.E62E	RGS17_ENST00000206262.1_Silent_p.E62E			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	62					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E62E(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CCTGGATACTCTCCATTTTTG	0.418																																					p.E62E	Esophageal Squamous(78;500 1236 6775 24364 49058)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G186A	6						.						344.0	239.0	275.0					6																	153347612		2203	4300	6503	153389305	SO:0001819	synonymous_variant	26575	exon3			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.186G>A	6.37:g.153347612C>T		Somatic		Capture	Illumina HiSeq	Phase_I	153389305	NM_012419	Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	37	CCDS5244.1																																																																																				0.418	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2		
SCAF8	22828	broad.mit.edu	37	6	155153633	155153633	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155153633G>T	ENST00000367178.3	+	20	3496	c.2920G>T	c.(2920-2922)Gat>Tat	p.D974Y	SCAF8_ENST00000417268.1_Missense_Mutation_p.D974Y|TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.D1040Y	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	974	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.D974Y(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCTCCAGGAGATATTTTTAG	0.453																																					p.D974Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2920T	6						.						97.0	106.0	103.0					6																	155153633		2203	4300	6503	155195325	SO:0001583	missense	22828	exon20			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2920G>T	6.37:g.155153633G>T	ENSP00000356146:p.Asp974Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	155195325	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219396	0.58560	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.59364	0.32;0.32;0.27	5.59	5.59	0.84812	.	0.000000	0.64402	U	0.000005	T	0.59459	0.2195	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.63488	0.915;0.915;0.915	T	0.63075	-0.6718	10	0.62326	D	0.03	.	19.5982	0.95549	0.0:0.0:1.0:0.0	.	1019;1040;974	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	Y	974;974;1040	ENSP00000356146:D974Y;ENSP00000413098:D974Y;ENSP00000356154:D1040Y	ENSP00000356146:D974Y	D	+	1	0	SCAF8	155195325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.791000	0.91849	2.644000	0.89710	0.561000	0.74099	GAT		0.453	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
TIAM2	26230	broad.mit.edu	37	6	155451148	155451148	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155451148A>G	ENST00000461783.3	+	6	2064	c.791A>G	c.(790-792)gAg>gGg	p.E264G	TIAM2_ENST00000360366.4_Missense_Mutation_p.E264G|TIAM2_ENST00000456144.1_Missense_Mutation_p.E264G|TIAM2_ENST00000529824.2_Missense_Mutation_p.E264G|TIAM2_ENST00000318981.5_Missense_Mutation_p.E264G|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	264					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E264G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCGAGGCTGAGGGCTCCTTC	0.617																																					p.E264G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791G	6						.						61.0	62.0	62.0					6																	155451148		2203	4300	6503	155492840	SO:0001583	missense	26230	exon3				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.791A>G	6.37:g.155451148A>G	ENSP00000437188:p.Glu264Gly	Somatic		Capture	Illumina HiSeq	Phase_I	155492840	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730979	0.30684	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06687	3.38;3.27;3.34;3.38;3.38;3.34	5.09	1.31	0.21738	.	0.402231	0.27673	N	0.018329	T	0.02012	0.0063	L	0.31294	0.92	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33701	-0.9858	10	0.87932	D	0	.	4.4676	0.11696	0.7:0.0:0.1561:0.1439	.	264	Q8IVF5	TIAM2_HUMAN	G	264;510;264;264;264;264;264	ENSP00000437188:E264G;ENSP00000434901:E264G;ENSP00000407746:E264G;ENSP00000327315:E264G;ENSP00000353528:E264G;ENSP00000433348:E264G	ENSP00000327315:E264G	E	+	2	0	TIAM2	155492840	1.000000	0.71417	0.545000	0.28153	0.492000	0.33523	5.222000	0.65277	0.334000	0.23590	0.533000	0.62120	GAG		0.617	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TIAM2	26230	broad.mit.edu	37	6	155451364	155451364	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155451364C>A	ENST00000461783.3	+	6	2280	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D	TIAM2_ENST00000360366.4_Missense_Mutation_p.A336D|TIAM2_ENST00000456144.1_Missense_Mutation_p.A336D|TIAM2_ENST00000529824.2_Missense_Mutation_p.A336D|TIAM2_ENST00000318981.5_Missense_Mutation_p.A336D|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	336					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A336D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTCTCTTTTGCTTCCGACATT	0.557																																					p.A336D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1007A	6						.						84.0	80.0	81.0					6																	155451364		2203	4300	6503	155493056	SO:0001583	missense	26230	exon3				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1007C>A	6.37:g.155451364C>A	ENSP00000437188:p.Ala336Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155493056	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621239	0.46736	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06371	3.42;3.31;3.37;3.42;3.42;3.37	4.99	4.11	0.48088	.	0.060653	0.64402	D	0.000004	T	0.06050	0.0157	M	0.65975	2.015	0.80722	D	1	P	0.44776	0.843	P	0.44359	0.447	T	0.14448	-1.0472	10	0.42905	T	0.14	.	12.5813	0.56391	0.0:0.9185:0.0:0.0815	.	336	Q8IVF5	TIAM2_HUMAN	D	336;582;336;336;336;336;336	ENSP00000437188:A336D;ENSP00000434901:A336D;ENSP00000407746:A336D;ENSP00000327315:A336D;ENSP00000353528:A336D;ENSP00000433348:A336D	ENSP00000327315:A336D	A	+	2	0	TIAM2	155493056	0.998000	0.40836	0.994000	0.49952	0.038000	0.13279	2.246000	0.43142	2.489000	0.83994	0.655000	0.94253	GCT		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TIAM2	26230	broad.mit.edu	37	6	155574087	155574087	+	Silent	SNP	G	G	A	rs545488093	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155574087G>A	ENST00000461783.3	+	26	5398	c.4125G>A	c.(4123-4125)tcG>tcA	p.S1375S	TIAM2_ENST00000456877.2_Silent_p.S687S|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Silent_p.S300S|TIAM2_ENST00000528391.2_Silent_p.S711S|TIAM2_ENST00000360366.4_Silent_p.S1399S|TIAM2_ENST00000456144.1_Silent_p.S1404S|TIAM2_ENST00000529824.2_Silent_p.S1404S|TIAM2_ENST00000318981.5_Silent_p.S1375S|TIAM2_ENST00000367174.2_Silent_p.S751S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1375	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1375S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGCCCTCGAATTCCCGGC	0.512																																					p.S1375S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4125A	6						.						108.0	97.0	101.0					6																	155574087		2203	4300	6503	155615779	SO:0001819	synonymous_variant	26230	exon23				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4125G>A	6.37:g.155574087G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155615779	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
NOX3	50508	broad.mit.edu	37	6	155728326	155728326	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155728326C>A	ENST00000159060.2	-	12	1620	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	506					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.K506N(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATAGAAGGTCTTCTGCTTTA	0.448																																					p.K506N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1518T	6						.						217.0	178.0	191.0					6																	155728326		2203	4300	6503	155770018	SO:0001583	missense	50508	exon12			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1518G>T	6.37:g.155728326C>A	ENSP00000159060:p.Lys506Asn	Somatic		Capture	Illumina HiSeq	Phase_I	155770018	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085295	0.55861	.	.	ENSG00000074771	ENST00000159060	D	0.94897	-3.55	5.34	1.37	0.22104	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.96256	0.8779	M	0.90252	3.1	0.39810	D	0.972692	D	0.89917	1.0	D	0.77557	0.99	D	0.95340	0.8437	10	0.72032	D	0.01	-22.7512	8.6102	0.33797	0.0:0.4202:0.0:0.5798	.	506	Q9HBY0	NOX3_HUMAN	N	506	ENSP00000159060:K506N	ENSP00000159060:K506N	K	-	3	2	NOX3	155770018	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	1.147000	0.31602	0.441000	0.26529	-0.302000	0.09304	AAG		0.448	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
NOX3	50508	broad.mit.edu	37	6	155764542	155764542	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155764542G>A	ENST00000159060.2	-	5	453	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	117	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.I117I(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATGCGCCACGATGTGGATGG	0.532																																					p.I117I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	6						.						81.0	72.0	75.0					6																	155764542		2203	4300	6503	155806234	SO:0001819	synonymous_variant	50508	exon5			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.351C>T	6.37:g.155764542G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155806234	NM_015718	Q9HBJ9	Silent	SNP	ENST00000159060.2	37	CCDS5250.1																																																																																				0.532	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
SYNJ2	8871	broad.mit.edu	37	6	158487517	158487517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:158487517G>A	ENST00000355585.4	+	12	1642	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	SYNJ2_ENST00000367122.2_Missense_Mutation_p.E523K|SYNJ2_ENST00000449859.2_Missense_Mutation_p.E451K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E523K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	523					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E523K(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGTCAGTCCGAATTCACAAA	0.527																																					p.E286K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856A	6						.						89.0	80.0	83.0					6																	158487517		2203	4300	6503	158407505	SO:0001583	missense	8871	exon11			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1567G>A	6.37:g.158487517G>A	ENSP00000347792:p.Glu523Lys	Somatic		Capture	Illumina HiSeq	Phase_I	158407505	NM_001178088	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029041	0.35797	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.27	4.4	0.53042	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000017	D	0.95677	0.8594	M	0.69463	2.115	0.58432	D	0.999992	D;P;D;D	0.89917	1.0;0.794;1.0;1.0	D;B;D;D	0.83275	0.991;0.153;0.994;0.996	D	0.94321	0.7553	10	0.13853	T	0.58	.	13.6471	0.62288	0.0748:0.0:0.9252:0.0	.	451;523;523;523	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	K	523;523;523;451	ENSP00000356089:E523K;ENSP00000356088:E523K;ENSP00000347792:E523K;ENSP00000388371:E451K	ENSP00000347792:E523K	E	+	1	0	SYNJ2	158407505	1.000000	0.71417	0.209000	0.23619	0.186000	0.23388	7.178000	0.77657	2.016000	0.59253	0.374000	0.22700	GAA		0.527	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
SYNJ2	8871	broad.mit.edu	37	6	158510923	158510923	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:158510923C>T	ENST00000355585.4	+	25	3584	c.3509C>T	c.(3508-3510)aCc>aTc	p.T1170I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.T1125I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T1170I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.T255I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1170					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.T1170I(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGATCAAAACCACCAATGCC	0.512																																					p.T933I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2798T	6						.						78.0	69.0	72.0					6																	158510923		2203	4300	6503	158430911	SO:0001583	missense	8871	exon24			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3509C>T	6.37:g.158510923C>T	ENSP00000347792:p.Thr1170Ile	Somatic		Capture	Illumina HiSeq	Phase_I	158430911	NM_001178088	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505269	0.85282	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94280	-3.39;-3.37;-3.21;0.5	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000011	D	0.93012	0.7776	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.995	D;P;P	0.69142	0.962;0.859;0.888	D	0.91418	0.5156	10	0.51188	T	0.08	.	19.1543	0.93504	0.0:1.0:0.0:0.0	.	565;1170;1170	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	I	1125;1170;1170;255	ENSP00000356089:T1125I;ENSP00000356088:T1170I;ENSP00000347792:T1170I;ENSP00000356079:T255I	ENSP00000347792:T1170I	T	+	2	0	SYNJ2	158430911	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	5.022000	0.64078	-0.014000	0.14175	0.555000	0.69702	ACC		0.512	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
SYTL3	94120	broad.mit.edu	37	6	159166652	159166652	+	Silent	SNP	C	C	T	rs536590063		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:159166652C>T	ENST00000297239.9	+	11	1190	c.996C>T	c.(994-996)aaC>aaT	p.N332N	SYTL3_ENST00000367081.3_Silent_p.N58N|SYTL3_ENST00000360448.3_Silent_p.N264N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	332	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.N264N(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTGTAAGAACCTTGCCTATG	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.001				p.N264N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	6						.						79.0	76.0	77.0					6																	159166652		2203	4300	6503	159086640	SO:0001819	synonymous_variant	94120	exon11			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.996C>T	6.37:g.159166652C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159086640	NM_001009991	Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	CCDS56458.1																																																																																				0.318	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
RSPH3	83861	broad.mit.edu	37	6	159414906	159414906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:159414906G>A	ENST00000252655.1	-	2	784	c.595C>T	c.(595-597)Cga>Tga	p.R199*	RSPH3_ENST00000449822.1_Nonsense_Mutation_p.R57*|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_Nonsense_Mutation_p.R57*|RSPH3_ENST00000297262.3_Nonsense_Mutation_p.R199*	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	199								p.R199*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTGTTACCTCGAATTACCCTT	0.373																																					p.R199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C595T	6						.						211.0	165.0	181.0					6																	159414906		2203	4300	6503	159334894	SO:0001587	stop_gained	83861	exon2			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.595C>T	6.37:g.159414906G>A	ENSP00000252655:p.Arg199*	Somatic		Capture	Illumina HiSeq	Phase_I	159334894	NM_031924	Q96LQ5|Q96LX2|Q9BX75	Nonsense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	37	6.383831	0.97524	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0737	17.2674	0.87090	0.0:0.0:1.0:0.0	.	.	.	.	X	57;57;199;199	.	ENSP00000252655:R199X	R	-	1	2	RSPH3	159334894	1.000000	0.71417	0.998000	0.56505	0.534000	0.34807	4.729000	0.62008	2.668000	0.90789	0.655000	0.94253	CGA		0.373	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924	
FNDC1	84624	broad.mit.edu	37	6	159659640	159659640	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:159659640G>T	ENST00000297267.9	+	13	4323	c.4123G>T	c.(4123-4125)Gat>Tat	p.D1375Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1312Y|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1375					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1375Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTACCTCCAAGATTCACATGG	0.368																																					p.D1375Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4123T	6						.						102.0	93.0	96.0					6																	159659640		1861	4106	5967	159579630	SO:0001583	missense	84624	exon13			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4123G>T	6.37:g.159659640G>T	ENSP00000297267:p.Asp1375Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	159579630	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.562947|3.562947	0.65538|0.65538	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.34667|.	1.35;2.19|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69691|0.69691	0.3139|0.3139	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.64445|0.64445	-0.6406|-0.6406	10|5	0.87932|.	D|.	0|.	-17.3247|-17.3247	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1312;1375|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	Y|I	1375;1312|1270	ENSP00000297267:D1375Y;ENSP00000342460:D1312Y|.	ENSP00000297267:D1375Y|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159579630|159579630	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.968000|0.968000	0.65278|0.65278	7.392000|7.392000	0.79840|0.79840	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.368	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159672552	159672552	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:159672552G>T	ENST00000297267.9	+	17	5253	c.5053G>T	c.(5053-5055)Gat>Tat	p.D1685Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1622Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1685	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.			D -> N (in Ref. 6; CAE51894). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1685Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCCCAGGAGATGTGGTCAC	0.532																																					p.D1685Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5053T	6						.						44.0	43.0	43.0					6																	159672552		2025	4183	6208	159592542	SO:0001583	missense	84624	exon17			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5053G>T	6.37:g.159672552G>T	ENSP00000297267:p.Asp1685Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	159592542	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.569850|4.569850	0.86542|0.86542	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.57907|.	0.37;0.37|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.106368|.	0.64402|.	D|.	0.000007|.	T|T	0.68146|0.68146	0.2969|0.2969	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.65158|0.65158	-0.6236|-0.6236	9|5	.|.	.|.	.|.	-17.7019|-17.7019	19.4666|19.4666	0.94945|0.94945	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1685|.	Q4ZHG4|.	FNDC1_HUMAN|.	Y|I	1685;1622|1580	ENSP00000297267:D1685Y;ENSP00000342460:D1622Y|.	.|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159592542|159592542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.297000|9.297000	0.96120|0.96120	2.613000|2.613000	0.88420|0.88420	0.585000|0.585000	0.79938|0.79938	GAT|AGA		0.532	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
ACAT2	39	broad.mit.edu	37	6	160199754	160199754	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160199754C>A	ENST00000367048.4	+	9	2847	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I	SNORA20_ENST00000384662.1_RNA|ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L392I|TCP1_ENST00000321394.7_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	363					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)	p.L363I(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTCGAATTCTTGTGACCCT	0.498																																					p.L363I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087A	6						.						135.0	127.0	130.0					6																	160199754		2203	4300	6503	160119744	SO:0001583	missense	39	exon9			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.1087C>A	6.37:g.160199754C>A	ENSP00000356015:p.Leu363Ile	Somatic		Capture	Illumina HiSeq	Phase_I	160119744	NM_005891	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408243	0.83340	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.82526	-1.62;-1.62	5.74	5.74	0.90152	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	L	0.52206	1.635	0.80722	D	1	P;P	0.40970	0.734;0.708	P;P	0.52066	0.689;0.543	D	0.83994	0.0339	10	0.72032	D	0.01	-7.2902	13.487	0.61371	0.0:0.9286:0.0:0.0714	.	392;363	B7Z233;Q9BWD1	.;THIC_HUMAN	I	363;392	ENSP00000356015:L363I;ENSP00000437850:L392I	ENSP00000356015:L363I	L	+	1	0	ACAT2	160119744	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	2.845000	0.48254	2.873000	0.98535	0.561000	0.74099	CTT		0.498	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891	
IGF2R	3482	broad.mit.edu	37	6	160464305	160464305	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160464305G>A	ENST00000356956.1	+	12	1754	c.1606G>A	c.(1606-1608)Gca>Aca	p.A536T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	536					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.A536T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGAGGACGCGGCAGTGTGTGC	0.493																																					p.A536T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	6						.						119.0	111.0	113.0					6																	160464305		2203	4300	6503	160384295	SO:0001583	missense	3482	exon12			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1606G>A	6.37:g.160464305G>A	ENSP00000349437:p.Ala536Thr	Somatic		Capture	Illumina HiSeq	Phase_I	160384295	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968813	0.74131	.	.	ENSG00000197081	ENST00000356956	T	0.03212	4.01	5.52	5.52	0.82312	Mannose-6-phosphate receptor, binding (1);	0.054029	0.64402	D	0.000001	T	0.15262	0.0368	M	0.90814	3.15	0.58432	D	0.999997	D	0.67145	0.996	D	0.65443	0.935	T	0.00593	-1.1654	10	0.72032	D	0.01	-7.0909	15.1165	0.72407	0.0:0.0:0.8581:0.1419	.	536	P11717	MPRI_HUMAN	T	536	ENSP00000349437:A536T	ENSP00000349437:A536T	A	+	1	0	IGF2R	160384295	1.000000	0.71417	0.147000	0.22382	0.023000	0.10783	4.658000	0.61497	2.595000	0.87683	0.655000	0.94253	GCA		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	broad.mit.edu	37	6	160471551	160471551	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160471551A>C	ENST00000356956.1	+	19	2709	c.2561A>C	c.(2560-2562)aAg>aCg	p.K854T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	854					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.K854T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGAATGGCAAAGACCGGCCCG	0.542																																					p.K854T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2561C	6						.						103.0	97.0	99.0					6																	160471551		2203	4300	6503	160391541	SO:0001583	missense	3482	exon19			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2561A>C	6.37:g.160471551A>C	ENSP00000349437:p.Lys854Thr	Somatic		Capture	Illumina HiSeq	Phase_I	160391541	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277368	0.40294	.	.	ENSG00000197081	ENST00000356956	T	0.03860	3.78	4.97	0.683	0.17998	Mannose-6-phosphate receptor, binding (1);	0.401655	0.29383	N	0.012319	T	0.01454	0.0047	L	0.55743	1.74	0.09310	N	1	B	0.34103	0.437	B	0.36885	0.235	T	0.46247	-0.9205	10	0.37606	T	0.19	-30.7339	0.6055	0.00752	0.4054:0.1722:0.255:0.1673	.	854	P11717	MPRI_HUMAN	T	854	ENSP00000349437:K854T	ENSP00000349437:K854T	K	+	2	0	IGF2R	160391541	0.016000	0.18221	0.006000	0.13384	0.378000	0.30076	0.622000	0.24433	-0.050000	0.13356	0.402000	0.26972	AAG		0.542	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	broad.mit.edu	37	6	160511093	160511093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160511093C>T	ENST00000356956.1	+	44	6761	c.6613C>T	c.(6613-6615)Cgg>Tgg	p.R2205W		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2205					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R2205W(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCACTTCAGTCGGAAAGTTGG	0.493																																					p.R2205W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6613T	6						.						80.0	73.0	76.0					6																	160511093		2203	4300	6503	160431083	SO:0001583	missense	3482	exon44			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6613C>T	6.37:g.160511093C>T	ENSP00000349437:p.Arg2205Trp	Somatic		Capture	Illumina HiSeq	Phase_I	160431083	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758051	0.31137	.	.	ENSG00000197081	ENST00000356956	T	0.04049	3.72	5.0	-0.568	0.11760	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	M	0.83692	2.655	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.04621	-1.0938	10	0.44086	T	0.13	-41.9578	17.858	0.88772	0.3099:0.6901:0.0:0.0	.	2205	P11717	MPRI_HUMAN	W	2205	ENSP00000349437:R2205W	ENSP00000349437:R2205W	R	+	1	2	IGF2R	160431083	0.349000	0.24870	0.904000	0.35570	0.016000	0.09150	0.953000	0.29162	-0.161000	0.10983	-0.320000	0.08662	CGG		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
SLC22A2	6582	broad.mit.edu	37	6	160677684	160677684	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160677684G>T	ENST00000366953.3	-	2	738	c.480C>A	c.(478-480)ttC>ttA	p.F160L	SLC22A2_ENST00000366952.1_Missense_Mutation_p.F139L|SLC22A2_ENST00000491092.1_Intron	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	160					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.F160L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AGCCAATAAAGAATCCTACAT	0.453																																					p.F160L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C480A	6						.						127.0	119.0	122.0					6																	160677684		2203	4300	6503	160597674	SO:0001583	missense	6582	exon2			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.480C>A	6.37:g.160677684G>T	ENSP00000355920:p.Phe160Leu	Somatic		Capture	Illumina HiSeq	Phase_I	160597674	NM_003058	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000174	0.54147	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.58358	0.34;0.34	5.8	2.21	0.28008	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.48218	1.51	0.42578	D	0.993209	B;P;D	0.54397	0.108;0.925;0.966	B;P;P	0.56751	0.12;0.803;0.805	T	0.19679	-1.0298	10	0.21540	T	0.41	.	8.5928	0.33697	0.5717:0.0:0.4283:0.0	.	160;160;160	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	L	160;139	ENSP00000355920:F160L;ENSP00000355919:F139L	ENSP00000355919:F139L	F	-	3	2	SLC22A2	160597674	0.991000	0.36638	0.996000	0.52242	0.055000	0.15305	0.487000	0.22356	0.465000	0.27167	-0.312000	0.09012	TTC		0.453	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
SLC22A3	6581	broad.mit.edu	37	6	160863798	160863798	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160863798G>T	ENST00000275300.2	+	8	1446	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A433S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	432					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.A432S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TGCAGGAATAGCATGGTTGAG	0.393																																					p.A432S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294T	6						.						81.0	76.0	78.0					6																	160863798		2203	4300	6503	160783788	SO:0001583	missense	6581	exon8			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1294G>T	6.37:g.160863798G>T	ENSP00000275300:p.Ala432Ser	Somatic		Capture	Illumina HiSeq	Phase_I	160783788	NM_021977	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492754	0.12702	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.57595	0.39;0.39	5.83	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.269718	0.37955	N	0.001879	T	0.05456	0.0144	N	0.01076	-1.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40251	-0.9573	10	0.19590	T	0.45	.	3.8558	0.08974	0.1169:0.5124:0.2304:0.1403	.	432	O75751	S22A3_HUMAN	S	432;433	ENSP00000275300:A432S;ENSP00000375989:A433S	ENSP00000275300:A432S	A	+	1	0	SLC22A3	160783788	0.001000	0.12720	0.014000	0.15608	0.905000	0.53344	0.069000	0.14552	0.279000	0.22186	-0.234000	0.12200	GCA		0.393	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
LPA	4018	broad.mit.edu	37	6	160966491	160966491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160966491G>T	ENST00000316300.5	-	33	5423	c.5379C>A	c.(5377-5379)taC>taA	p.Y1793*	LPA_ENST00000447678.1_Nonsense_Mutation_p.Y1793*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4301	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Y1793*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATATCACAGTAGTCAAAAA	0.393																																					p.Y1793X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5379A	6						.						108.0	116.0	113.0					6																	160966491		2203	4300	6503	160886481	SO:0001587	stop_gained	4018	exon34			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5379C>A	6.37:g.160966491G>T	ENSP00000321334:p.Tyr1793*	Somatic		Capture	Illumina HiSeq	Phase_I	160886481	NM_005577	Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	42	9.755579	0.99256	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.7	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5565	0.12138	0.3421:0.0:0.6579:0.0	.	.	.	.	X	1793	.	ENSP00000321334:Y1793X	Y	-	3	2	LPA	160886481	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	2.788000	0.47806	0.444000	0.26612	0.184000	0.17185	TAC		0.393	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LPA	4018	broad.mit.edu	37	6	160966563	160966563	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160966563G>A	ENST00000316300.5	-	33	5351	c.5307C>T	c.(5305-5307)taC>taT	p.Y1769Y	LPA_ENST00000447678.1_Silent_p.Y1769Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4277	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Y1769Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTTACGGCAGTACTGAAAAC	0.448																																					p.Y1769Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5307T	6						.						107.0	109.0	108.0					6																	160966563		2203	4300	6503	160886553	SO:0001819	synonymous_variant	4018	exon34			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5307C>T	6.37:g.160966563G>A		Somatic		Capture	Illumina HiSeq	Phase_I	160886553	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
AGPAT4	56895	broad.mit.edu	37	6	161587355	161587355	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:161587355G>A	ENST00000320285.4	-	3	485	c.273C>T	c.(271-273)atC>atT	p.I91I	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_Silent_p.I91I|AGPAT4_ENST00000366906.5_Silent_p.I29I|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Silent_p.I91I	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	91					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I91I(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TGAGAACCACGATGGCATTTT	0.547																																					p.I91I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	6						.						89.0	75.0	79.0					6																	161587355		2203	4300	6503	161507345	SO:0001819	synonymous_variant	56895	exon3			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.273C>T	6.37:g.161587355G>A		Somatic		Capture	Illumina HiSeq	Phase_I	161507345	NM_020133	B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	CCDS5280.1																																																																																				0.547	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133	
PACRG	135138	broad.mit.edu	37	6	163483313	163483313	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163483313G>T	ENST00000337019.3	+	4	647	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PACRG_ENST00000366889.2_Missense_Mutation_p.K141N|PACRG_ENST00000366888.2_Missense_Mutation_p.K141N	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	141					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.K141N(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GTGGGAACAAGATCCTACCTG	0.433																																					p.K141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G423T	6						.						91.0	84.0	86.0					6																	163483313		2203	4300	6503	163403303	SO:0001583	missense	135138	exon4			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.423G>T	6.37:g.163483313G>T	ENSP00000337946:p.Lys141Asn	Somatic		Capture	Illumina HiSeq	Phase_I	163403303	NM_001080378	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.234975|4.234975	0.79800|0.79800	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|T;T;T	.|0.68025	.|-0.22;-0.3;-0.3	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.049808	.|0.85682	.|D	.|0.000000	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.91717|0.91717	3.235|3.235	0.48040|0.48040	D|D	0.999572|0.999572	.|D;D	.|0.89917	.|0.993;1.0	.|D;D	.|0.80764	.|0.94;0.994	D|D	0.87792|0.87792	0.2619|0.2619	5|10	.|0.87932	.|D	.|0	-28.9102|-28.9102	18.3664|18.3664	0.90392|0.90392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|141;141	.|Q96M98-2;Q96M98	.|.;PACRG_HUMAN	Y|N	57|141	.|ENSP00000337946:K141N;ENSP00000355855:K141N;ENSP00000355854:K141N	.|ENSP00000337946:K141N	D|K	+|+	1|3	0|2	PACRG|PACRG	163403303|163403303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.977000|5.977000	0.70492|0.70492	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	GAT|AAG		0.433	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
PACRG	135138	broad.mit.edu	37	6	163735864	163735864	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163735864T>A	ENST00000337019.3	+	7	960	c.736T>A	c.(736-738)Tcc>Acc	p.S246T	PACRG_ENST00000366889.2_Missense_Mutation_p.S207T|PACRG_ENST00000366888.2_Missense_Mutation_p.S207T	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	246					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.S246T(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACCAGTGAACTCCGGAGACGG	0.498																																					p.S207T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T619A	6						.						91.0	83.0	86.0					6																	163735864		2203	4300	6503	163655854	SO:0001583	missense	135138	exon6			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.736T>A	6.37:g.163735864T>A	ENSP00000337946:p.Ser246Thr	Somatic		Capture	Illumina HiSeq	Phase_I	163655854	NM_001080378	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076976	0.36662	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.41758	0.99	5.87	5.87	0.94306	.	0.195526	0.45606	D	0.000350	T	0.18635	0.0447	L	0.27053	0.805	0.38088	D	0.936868	B;B	0.18166	0.008;0.026	B;B	0.21708	0.006;0.036	T	0.06320	-1.0833	10	0.22706	T	0.39	-21.3457	16.5764	0.84681	0.0:0.0:0.0:1.0	.	207;246	Q96M98-2;Q96M98	.;PACRG_HUMAN	T	246;207;207	ENSP00000337946:S246T	ENSP00000337946:S246T	S	+	1	0	PACRG	163655854	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.651000	0.54431	2.371000	0.80710	0.533000	0.62120	TCC		0.498	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
QKI	9444	broad.mit.edu	37	6	163876420	163876420	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163876420G>A	ENST00000361752.3	+	2	803	c.252G>A	c.(250-252)gaG>gaA	p.E84E	QKI_ENST00000424802.3_Silent_p.E84E|QKI_ENST00000392127.2_Silent_p.E84E|QKI_ENST00000453779.2_Silent_p.E84E|QKI_ENST00000361195.2_Silent_p.E84E|QKI_ENST00000275262.7_Silent_p.E84E	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	84					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E84E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGTTACAAGAGAAACTTTATG	0.358																																					p.E84E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	6						.						186.0	187.0	186.0					6																	163876420		2203	4300	6503	163796410	SO:0001819	synonymous_variant	9444	exon2			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.252G>A	6.37:g.163876420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	163796410	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103366	0.20632	.	.	ENSG00000112531	ENST00000537883	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07271	-1.0781	6	0.09590	T	0.72	-2.7325	11.0431	0.47842	0.1367:0.0:0.8633:0.0	.	.	.	.	K	20	.	ENSP00000441773:E20K	E	+	1	0	QKI	163796410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.336000	0.43938	2.937000	0.99478	0.650000	0.86243	GAA		0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
QKI	9444	broad.mit.edu	37	6	163983020	163983020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163983020G>T	ENST00000361752.3	+	5	1104	c.553G>T	c.(553-555)Gga>Tga	p.G185*	QKI_ENST00000424802.3_Nonsense_Mutation_p.G185*|QKI_ENST00000392127.2_Nonsense_Mutation_p.G185*|QKI_ENST00000453779.2_Nonsense_Mutation_p.G185*|QKI_ENST00000361195.2_Nonsense_Mutation_p.G185*|QKI_ENST00000275262.7_Nonsense_Mutation_p.G185*	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	185					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G185*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATAGGCAGAAGGAGAAGACAG	0.408																																					p.G185X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G553T	6						.						107.0	103.0	105.0					6																	163983020		2203	4300	6503	163903010	SO:0001587	stop_gained	9444	exon5			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.553G>T	6.37:g.163983020G>T	ENSP00000355094:p.Gly185*	Somatic		Capture	Illumina HiSeq	Phase_I	163903010	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Nonsense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.373143|5.373143	0.95923|0.95923	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823|ENST00000537883;ENST00000544361	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71542	.|0.3352	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68557	.|-0.5377	.|3	0.87932|.	D|.	0|.	.|.	19.6035|19.6035	0.95573|0.95573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	185;185;185;185;185;185;130;130|81;18	.|.	ENSP00000275262:G185X|.	G|R	+|+	1|2	0|0	QKI|QKI	163903010|163903010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.388000|9.388000	0.97237|0.97237	2.814000|2.814000	0.96858|0.96858	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.408	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
QKI	9444	broad.mit.edu	37	6	163984706	163984706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163984706G>A	ENST00000361752.3	+	6	1440	c.889G>A	c.(889-891)Gct>Act	p.A297T	QKI_ENST00000424802.3_Missense_Mutation_p.A289T|QKI_ENST00000392127.2_Missense_Mutation_p.A297T|QKI_ENST00000453779.2_Missense_Mutation_p.A297T|QKI_ENST00000361195.2_Missense_Mutation_p.A289T|QKI_ENST00000275262.7_Missense_Mutation_p.A297T	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	297					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A297T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATTGGCACCAGCTACATCAAT	0.443																																					p.A297T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889A	6						.						129.0	128.0	129.0					6																	163984706		2203	4300	6503	163904696	SO:0001583	missense	9444	exon6			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.889G>A	6.37:g.163984706G>A	ENSP00000355094:p.Ala297Thr	Somatic		Capture	Illumina HiSeq	Phase_I	163904696	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.477896|4.477896	0.84747|0.84747	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.047556|.	0.85682|.	D|.	0.000000|.	T|T	0.64583|0.64583	0.2611|0.2611	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999998|0.999998	P;D;D;D;D;D|.	0.67145|.	0.867;0.993;0.996;0.996;0.996;0.996|.	B;P;D;D;D;D|.	0.76071|.	0.382;0.78;0.987;0.987;0.987;0.987|.	T|T	0.59695|0.59695	-0.7406|-0.7406	9|5	0.46703|.	T|.	0.11|.	-2.0645|-2.0645	19.9189|19.9189	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	289;297;289;297;297;297|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	T|N	297;297;297;297;289;289|193;130	.|.	ENSP00000275262:A297T|.	A|S	+|+	1|2	0|0	QKI|QKI	163904696|163904696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.842000|7.842000	0.86851|0.86851	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.443	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
QKI	9444	broad.mit.edu	37	6	163985721	163985721	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163985721G>A	ENST00000361752.3	+	6	1485				QKI_ENST00000424802.3_Missense_Mutation_p.M311I|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_Intron|QKI_ENST00000361195.2_Intron|QKI_ENST00000275262.7_Missense_Mutation_p.M319I	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M319I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCAGTCATGCCTGATATTT	0.388																																					p.M319I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G957A	6						.						125.0	116.0	119.0					6																	163985721		2203	4300	6503	163905711	SO:0001627	intron_variant	9444	exon7			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.934+970G>A	6.37:g.163985721G>A		Somatic		Capture	Illumina HiSeq	Phase_I	163905711	NM_206854	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337173	0.41398	.	.	ENSG00000112531	ENST00000275262;ENST00000424802	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.24359	N	0.994886	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	8	0.51188	T	0.08	.	13.2249	0.59909	0.0:0.0:0.8025:0.1975	.	311;319	Q96PU8-5;Q96PU8-6	.;.	I	319;311	.	ENSP00000275262:M319I	M	+	3	0	QKI	163905711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.247000	0.51422	2.865000	0.98341	0.655000	0.94253	ATG		0.388	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
PDE10A	10846	broad.mit.edu	37	6	165809904	165809904	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:165809904C>T	ENST00000366882.1	-	15	1447	c.1293G>A	c.(1291-1293)acG>acA	p.T431T	PDE10A_ENST00000539869.2_Silent_p.T441T|PDE10A_ENST00000354448.4_Silent_p.T431T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	431					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.T431T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCTTTTCCATCGTTACCCGGT	0.393																																					p.T431T	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1293A	6						.						195.0	163.0	174.0					6																	165809904		2203	4300	6503	165729894	SO:0001819	synonymous_variant	10846	exon15			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1293G>A	6.37:g.165809904C>T		Somatic		Capture	Illumina HiSeq	Phase_I	165729894	NM_006661	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37																																																																																					0.393	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
PDE10A	10846	broad.mit.edu	37	6	165843806	165843806	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:165843806C>T	ENST00000366882.1	-	10	896	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PDE10A_ENST00000539869.2_Missense_Mutation_p.E258K|PDE10A_ENST00000354448.4_Missense_Mutation_p.E248K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	248					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.E248K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCATTCAATTCTGTCTGTTTG	0.348																																					p.E248K	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	6						.						149.0	142.0	145.0					6																	165843806		2203	4300	6503	165763796	SO:0001583	missense	10846	exon10			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.742G>A	6.37:g.165843806C>T	ENSP00000355847:p.Glu248Lys	Somatic		Capture	Illumina HiSeq	Phase_I	165763796	NM_006661	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	14.18	2.458964	0.43634	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.70282	-0.47;-0.47	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	N	0.08118	0	0.54753	D	0.999988	D;B	0.69078	0.997;0.23	D;B	0.73380	0.98;0.074	T	0.55891	-0.8069	10	0.05833	T	0.94	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	258;248	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	248;276;258;248;247	ENSP00000355847:E248K;ENSP00000346435:E248K	ENSP00000341187:E258K	E	-	1	0	PDE10A	165763796	1.000000	0.71417	0.009000	0.14445	0.953000	0.61014	7.441000	0.80485	2.861000	0.98227	0.650000	0.86243	GAA		0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
SFT2D1	113402	broad.mit.edu	37	6	166743722	166743722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:166743722G>T	ENST00000361731.3	-	2	186	c.77C>A	c.(76-78)tCa>tAa	p.S26*	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1									p.S26*(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		ACTAAGGGATGAGGCATCCAG	0.313																																					p.S26X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C77A	6						.						45.0	46.0	45.0					6																	166743722		2203	4300	6503	166663712	SO:0001587	stop_gained	113402	exon2			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.77C>A	6.37:g.166743722G>T	ENSP00000354590:p.Ser26*	Somatic		Capture	Illumina HiSeq	Phase_I	166663712	NM_145169		Nonsense_Mutation	SNP	ENST00000361731.3	37	CCDS5292.1	.	.	.	.	.	.	.	.	.	.	G	37	6.115012	0.97296	.	.	ENSG00000198818	ENST00000361731	.	.	.	5.25	4.38	0.52667	.	0.239506	0.34555	N	0.003880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8791	11.8017	0.52130	0.086:0.0:0.914:0.0	.	.	.	.	X	26	.	ENSP00000354590:S26X	S	-	2	0	SFT2D1	166663712	0.998000	0.40836	0.578000	0.28575	0.956000	0.61745	3.208000	0.51114	1.349000	0.45751	0.462000	0.41574	TCA		0.313	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169	
CCR6	1235	broad.mit.edu	37	6	167549867	167549867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:167549867C>T	ENST00000341935.5	+	3	701	c.149C>T	c.(148-150)cCg>cTg	p.P50L	CCR6_ENST00000349984.4_Missense_Mutation_p.P50L|CCR6_ENST00000400926.2_Missense_Mutation_p.P50L|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	50					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.P50L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTATTTGTACCGATTGCCTAC	0.443																																					p.P50L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C149T	6						.						189.0	185.0	186.0					6																	167549867		2203	4300	6503	167469857	SO:0001583	missense	1235	exon3			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.149C>T	6.37:g.167549867C>T	ENSP00000343952:p.Pro50Leu	Somatic		Capture	Illumina HiSeq	Phase_I	167469857	NM_004367	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114269	0.37339	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.37058	1.22;1.22;1.22	4.72	4.72	0.59763	.	0.188680	0.34025	U	0.004324	T	0.45696	0.1355	M	0.65320	2	0.43750	D	0.99625	D	0.64830	0.994	P	0.60345	0.873	T	0.48843	-0.8999	10	0.59425	D	0.04	.	16.6631	0.85246	0.0:1.0:0.0:0.0	.	50	P51684	CCR6_HUMAN	L	50	ENSP00000383715:P50L;ENSP00000343952:P50L;ENSP00000339393:P50L	ENSP00000343952:P50L	P	+	2	0	CCR6	167469857	0.995000	0.38212	0.000000	0.03702	0.003000	0.03518	5.097000	0.64542	2.152000	0.67230	0.561000	0.74099	CCG		0.443	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
CCR6	1235	broad.mit.edu	37	6	167550661	167550661	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:167550661C>T	ENST00000341935.5	+	3	1495	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	CCR6_ENST00000349984.4_Missense_Mutation_p.L315F|CCR6_ENST00000400926.2_Missense_Mutation_p.L315F|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	315					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.L315F(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GAACCCTGTGCTCTACGCTTT	0.478																																					p.L315F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943T	6						.						97.0	94.0	95.0					6																	167550661		2203	4300	6503	167470651	SO:0001583	missense	1235	exon3			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.943C>T	6.37:g.167550661C>T	ENSP00000343952:p.Leu315Phe	Somatic		Capture	Illumina HiSeq	Phase_I	167470651	NM_004367	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584475	0.65992	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.42900	0.96;0.96;0.96	4.79	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000013	T	0.53674	0.1811	M	0.84511	2.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.60301	-0.7290	10	0.72032	D	0.01	.	6.8803	0.24168	0.1731:0.7354:0.0:0.0915	.	315	P51684	CCR6_HUMAN	F	315	ENSP00000383715:L315F;ENSP00000343952:L315F;ENSP00000339393:L315F	ENSP00000343952:L315F	L	+	1	0	CCR6	167470651	1.000000	0.71417	0.871000	0.34182	0.685000	0.39939	1.565000	0.36386	1.094000	0.41399	0.655000	0.94253	CTC		0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
UNC93A	54346	broad.mit.edu	37	6	167709635	167709635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:167709635C>T	ENST00000230256.3	+	3	560	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.R129C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R129C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCGGGAAAGCGTGGCAAAGA	0.547																																					p.R129C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C385T	6						.						239.0	216.0	224.0					6																	167709635		2203	4300	6503	167629625	SO:0001583	missense	54346	exon3			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.385C>T	6.37:g.167709635C>T	ENSP00000230256:p.Arg129Cys	Somatic		Capture	Illumina HiSeq	Phase_I	167629625	NM_001143947	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789893	0.31685	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.31769	1.48;3.45;3.49	5.29	-4.12	0.03916	Major facilitator superfamily domain, general substrate transporter (1);	2.016680	0.01974	N	0.044346	T	0.20333	0.0489	L	0.34521	1.04	0.09310	N	1	D;P	0.54601	0.967;0.939	P;P	0.56788	0.806;0.717	T	0.27938	-1.0059	10	0.45353	T	0.12	0.0084	10.7642	0.46283	0.3745:0.5021:0.1234:0.0	.	129;129	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	C	129	ENSP00000421484:R129C;ENSP00000230256:R129C;ENSP00000355794:R129C	ENSP00000230256:R129C	R	+	1	0	UNC93A	167629625	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	0.277000	0.18734	-0.594000	0.05836	0.655000	0.94253	CGT		0.547	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
THBS2	7058	broad.mit.edu	37	6	169623517	169623517	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:169623517C>A	ENST00000366787.3	-	19	3076	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	943					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D943Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCATCAATATCTGGGATGTTG	0.408																																					p.D943Y	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2827T	6						.						141.0	121.0	128.0					6																	169623517		2203	4300	6503	169365442	SO:0001583	missense	7058	exon19				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2827G>T	6.37:g.169623517C>A	ENSP00000355751:p.Asp943Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169365442	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872168	0.72180	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.99252	-5.63	4.73	4.73	0.59995	.	0.000000	0.42294	U	0.000739	D	0.99588	0.9851	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97878	1.0290	10	0.87932	D	0	-38.1768	17.7107	0.88321	0.0:1.0:0.0:0.0	.	943	P35442	TSP2_HUMAN	Y	943;201	ENSP00000355751:D943Y	ENSP00000355751:D943Y	D	-	1	0	THBS2	169365442	1.000000	0.71417	0.085000	0.20634	0.766000	0.43426	7.272000	0.78516	2.150000	0.67090	0.471000	0.43371	GAT		0.408	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	broad.mit.edu	37	6	169648619	169648619	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:169648619C>T	ENST00000366787.3	-	4	751	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	168	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D168N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTATGAGGTCGCAGCCCACG	0.617																																					p.D168N	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	6						.						76.0	66.0	70.0					6																	169648619		2203	4300	6503	169390544	SO:0001583	missense	7058	exon4				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.502G>A	6.37:g.169648619C>T	ENSP00000355751:p.Asp168Asn	Somatic		Capture	Illumina HiSeq	Phase_I	169390544	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100270	0.56183	.	.	ENSG00000186340	ENST00000366787	T	0.02032	4.49	4.5	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.160122	0.28376	U	0.015575	T	0.01695	0.0054	M	0.69823	2.125	0.29671	N	0.842459	P	0.39131	0.661	B	0.30495	0.116	T	0.33548	-0.9864	10	0.48119	T	0.1	-36.8545	17.5714	0.87935	0.0:1.0:0.0:0.0	.	168	P35442	TSP2_HUMAN	N	168	ENSP00000355751:D168N	ENSP00000355751:D168N	D	-	1	0	THBS2	169390544	1.000000	0.71417	0.908000	0.35775	0.618000	0.37518	5.188000	0.65093	2.204000	0.70986	0.563000	0.77884	GAC		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	G	A	rs267600897		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:169648776G>A	ENST00000366787.3	-	4	594	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	115	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.I115I(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657																																					p.I115I	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345T	6						.						96.0	90.0	92.0					6																	169648776		2203	4300	6503	169390701	SO:0001819	synonymous_variant	7058	exon4				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.345C>T	6.37:g.169648776G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169390701	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	broad.mit.edu	37	6	169648842	169648842	+	Silent	SNP	G	G	A	rs200715253	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:169648842G>A	ENST00000366787.3	-	4	528	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	93	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D93D(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGGACTTGCCGTCCTGCTTGA	0.617																																					p.D93D	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	6						.						120.0	104.0	109.0					6																	169648842		2203	4300	6503	169390767	SO:0001819	synonymous_variant	7058	exon4				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.279C>T	6.37:g.169648842G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169390767	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
ERMARD	55780	broad.mit.edu	37	6	170179373	170179373	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170179373A>C	ENST00000366773.3	+	17	1868	c.1835A>C	c.(1834-1836)gAg>gCg	p.E612A	ERMARD_ENST00000588451.1_Missense_Mutation_p.E476A|ERMARD_ENST00000418781.3_Missense_Mutation_p.E539A|ERMARD_ENST00000392095.4_Missense_Mutation_p.E486A|ERMARD_ENST00000366772.2_Missense_Mutation_p.E565A	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	612					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E612A(1)									AATGCGCATGAGTATCAGCAG	0.488																																					p.E612A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1835C	6						.						215.0	156.0	176.0					6																	170179373		2203	4300	6503	169921298	SO:0001583	missense	55780	exon17			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1835A>C	6.37:g.170179373A>C	ENSP00000355735:p.Glu612Ala	Somatic		Capture	Illumina HiSeq	Phase_I	169921298	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578234	0.45902	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46063	0.89;0.88	5.46	5.46	0.80206	.	0.324515	0.26170	N	0.025935	T	0.54598	0.1868	M	0.75447	2.3	0.36570	D	0.872933	D;D;P	0.69078	0.997;0.994;0.666	D;D;B	0.66196	0.942;0.917;0.194	T	0.63690	-0.6580	10	0.72032	D	0.01	.	14.4198	0.67175	1.0:0.0:0.0:0.0	.	565;539;612	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	A	612;565;539;486;260	ENSP00000355735:E612A;ENSP00000375945:E486A	ENSP00000355733:E260A	E	+	2	0	C6orf70	169921298	0.972000	0.33761	0.058000	0.19502	0.018000	0.09664	2.766000	0.47629	2.074000	0.62210	0.519000	0.50382	GAG		0.488	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
ERMARD	55780	broad.mit.edu	37	6	170181481	170181481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170181481G>A	ENST00000366773.3	+	18	1942	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ERMARD_ENST00000588451.1_Missense_Mutation_p.E501K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E564K|ERMARD_ENST00000392095.4_Missense_Mutation_p.E511K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E590K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	637					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E637K(1)									CACCAGTTACGAAAAGAACAA	0.323																																					p.E637K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1909A	6						.						98.0	88.0	91.0					6																	170181481		2203	4300	6503	169923406	SO:0001583	missense	55780	exon18			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1909G>A	6.37:g.170181481G>A	ENSP00000355735:p.Glu637Lys	Somatic		Capture	Illumina HiSeq	Phase_I	169923406	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513509	0.27123	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.47528	0.84;0.85	5.3	2.49	0.30216	.	0.549005	0.16162	N	0.226689	T	0.12860	0.0312	L	0.29908	0.895	0.20196	N	0.999925	P;P;B	0.42357	0.777;0.576;0.44	B;B;B	0.28139	0.086;0.06;0.027	T	0.02829	-1.1105	10	0.72032	D	0.01	.	9.1378	0.36886	0.0758:0.2761:0.6481:0.0	.	590;564;637	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	637;590;564;511;285	ENSP00000355735:E637K;ENSP00000375945:E511K	ENSP00000355733:E285K	E	+	1	0	C6orf70	169923406	0.690000	0.27699	0.055000	0.19348	0.590000	0.36582	1.411000	0.34702	0.202000	0.20498	0.561000	0.74099	GAA		0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
DLL1	28514	broad.mit.edu	37	6	170592333	170592333	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170592333C>T	ENST00000366756.3	-	9	2367	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	678					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.P678P(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGAGTGTGGTCGGGGTCCCCT	0.657																																					p.P678P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2034A	6						.						23.0	24.0	24.0					6																	170592333		2203	4299	6502	170434258	SO:0001819	synonymous_variant	28514	exon9			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.2034G>A	6.37:g.170592333C>T		Somatic		Capture	Illumina HiSeq	Phase_I	170434258	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	CCDS5313.1																																																																																				0.657	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
FAM120B	84498	broad.mit.edu	37	6	170627061	170627061	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170627061G>A	ENST00000476287.1	+	2	691	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.E207K|FAM120B_ENST00000537664.1_Missense_Mutation_p.E218K	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	195					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E195K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCAATTAGCGAGCTCTGCCT	0.527																																					p.E195K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G583A	6						.						79.0	83.0	82.0					6																	170627061		2203	4300	6503	170468986	SO:0001583	missense	84498	exon2			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.583G>A	6.37:g.170627061G>A	ENSP00000417970:p.Glu195Lys	Somatic		Capture	Illumina HiSeq	Phase_I	170468986	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602315	0.28534	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.52295	0.67;0.67;0.67	5.8	4.82	0.62117	.	0.236857	0.47852	D	0.000202	T	0.05044	0.0135	N	0.01576	-0.805	0.80722	D	1	B;B	0.27192	0.064;0.171	B;B	0.12837	0.006;0.008	T	0.43360	-0.9396	10	0.06494	T	0.89	-15.6445	3.8116	0.08799	0.327:0.0:0.673:0.0	.	195;195	Q96EK7;F2Z2E1	F120B_HUMAN;.	K	207;218;195	ENSP00000444125:E207K;ENSP00000440125:E218K;ENSP00000417970:E195K	ENSP00000436640:E195K	E	+	1	0	FAM120B	170468986	1.000000	0.71417	0.751000	0.31187	0.808000	0.45660	5.716000	0.68437	2.732000	0.93576	0.650000	0.86243	GAG		0.527	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
FAM120B	84498	broad.mit.edu	37	6	170627136	170627136	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170627136G>A	ENST00000476287.1	+	2	766	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.A232T|FAM120B_ENST00000537664.1_Missense_Mutation_p.A243T	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	220					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A220T(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCTCTGTGTGGCCGACCTTCC	0.522																																					p.A220T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G658A	6						.						66.0	66.0	66.0					6																	170627136		2202	4300	6502	170469061	SO:0001583	missense	84498	exon2			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.658G>A	6.37:g.170627136G>A	ENSP00000417970:p.Ala220Thr	Somatic		Capture	Illumina HiSeq	Phase_I	170469061	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645309	0.03531	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.55234	0.53;0.53;0.53	5.36	-5.1	0.02911	.	0.787975	0.12221	N	0.488379	T	0.12646	0.0307	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.23990	0.095;0.095	B;B	0.23574	0.047;0.027	T	0.30001	-0.9993	10	0.13853	T	0.58	-2.6025	5.3262	0.15908	0.36:0.0:0.1438:0.4962	.	220;220	Q96EK7;F2Z2E1	F120B_HUMAN;.	T	232;243;220	ENSP00000444125:A232T;ENSP00000440125:A243T;ENSP00000417970:A220T	ENSP00000436640:A220T	A	+	1	0	FAM120B	170469061	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.888000	0.03956	-0.145000	0.13849	GCC		0.522	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
EXOC2	55770	broad.mit.edu	37	6	486720	486720	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:486720A>G	ENST00000230449.4	-	28	2861	c.2726T>C	c.(2725-2727)tTg>tCg	p.L909S	EXOC2_ENST00000448181.3_Missense_Mutation_p.L504S	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	909					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L909S(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGTGAGCTGCAAGTGCATGCT	0.458																																					p.L909S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2726C	6						.						173.0	166.0	168.0					6																	486720		2203	4300	6503	431720	SO:0001583	missense	55770	exon28			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2726T>C	6.37:g.486720A>G	ENSP00000230449:p.Leu909Ser	Somatic		Capture	Illumina HiSeq	Phase_I	431720	NM_018303	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163243	0.78226	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.26810	1.71;1.71	5.42	5.42	0.78866	.	0.064498	0.64402	D	0.000008	T	0.33411	0.0862	M	0.66939	2.045	0.58432	D	0.999999	D	0.76494	0.999	D	0.66196	0.942	T	0.09037	-1.0693	10	0.21540	T	0.41	-5.008	13.6968	0.62585	1.0:0.0:0.0:0.0	.	909	Q96KP1	EXOC2_HUMAN	S	909;504	ENSP00000230449:L909S;ENSP00000398113:L504S	ENSP00000230449:L909S	L	-	2	0	EXOC2	431720	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	6.549000	0.73900	2.046000	0.60703	0.533000	0.62120	TTG		0.458	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
EXOC2	55770	broad.mit.edu	37	6	576760	576760	+	Missense_Mutation	SNP	C	C	T	rs146558148	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:576760C>T	ENST00000230449.4	-	12	1450	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	EXOC2_ENST00000448181.3_Missense_Mutation_p.D34N	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	439					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D439N(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTACTGTCGTCTCGACCA	0.453													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		14458	0.0		0.0	False		,,,				2504	0.0				p.D439N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1315A	6						.	C	ASN/ASP	45,4361	47.5+/-82.1	0,45,2158	96.0	75.0	82.0		1315	5.7	1.0	6	dbSNP_134	82	0,8600		0,0,4300	yes	missense	EXOC2	NM_018303.4	23	0,45,6458	TT,TC,CC		0.0,1.0213,0.346	benign	439/925	576760	45,12961	2203	4300	6503	521760	SO:0001583	missense	55770	exon12			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1315G>A	6.37:g.576760C>T	ENSP00000230449:p.Asp439Asn	Somatic		Capture	Illumina HiSeq	Phase_I	521760	NM_018303	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	15.32	2.798237	0.50208	0.010213	0.0	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.46819	0.86	5.7	5.7	0.88788	.	0.092888	0.64402	D	0.000001	T	0.31263	0.0791	L	0.47716	1.5	0.53005	D	0.999967	B	0.11235	0.004	B	0.04013	0.001	T	0.06935	-1.0799	10	0.28530	T	0.3	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	439	Q96KP1	EXOC2_HUMAN	N	439;34	ENSP00000230449:D439N	ENSP00000230449:D439N	D	-	1	0	EXOC2	521760	1.000000	0.71417	0.994000	0.49952	0.771000	0.43674	5.317000	0.65822	2.684000	0.91462	0.650000	0.86243	GAC		0.453	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
EXOC2	55770	broad.mit.edu	37	6	637784	637784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:637784C>T	ENST00000230449.4	-	2	170	c.35G>A	c.(34-36)gGc>gAc	p.G12D	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	12	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G12D(1)|p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGGAGAGATGCCGGTCACAAG	0.498																																					p.G12D												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|ovary(1)	c.G35A	6						.						125.0	123.0	124.0					6																	637784		2203	4300	6503	582784	SO:0001583	missense	55770	exon2			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.35G>A	6.37:g.637784C>T	ENSP00000230449:p.Gly12Asp	Somatic		Capture	Illumina HiSeq	Phase_I	582784	NM_018303	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056011	0.93793	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.75589	-0.95;-0.95	5.29	5.29	0.74685	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82240	-0.0555	10	0.59425	D	0.04	-24.3461	19.2731	0.94018	0.0:1.0:0.0:0.0	.	12	Q96KP1	EXOC2_HUMAN	D	12	ENSP00000230449:G12D;ENSP00000406400:G12D	ENSP00000230449:G12D	G	-	2	0	EXOC2	582784	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.183000	0.77697	2.624000	0.88883	0.563000	0.77884	GGC		0.498	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
GMDS	2762	broad.mit.edu	37	6	2117747	2117747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:2117747C>T	ENST00000380815.4	-	3	460	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	GMDS_ENST00000530927.1_Missense_Mutation_p.R34Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	64					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.R64Q(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATGCTCAATTCGACCCGTATT	0.378																																					p.R64Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	6						.						137.0	137.0	137.0					6																	2117747		2203	4300	6503	2062746	SO:0001583	missense	2762	exon3			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.191G>A	6.37:g.2117747C>T	ENSP00000370194:p.Arg64Gln	Somatic		Capture	Illumina HiSeq	Phase_I	2062746	NM_001500	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516501	0.96402	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.93712	-3.27;-3.27	5.41	5.41	0.78517	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99271	1.0893	10	0.87932	D	0	-11.5046	19.1976	0.93696	0.0:1.0:0.0:0.0	.	64	O60547	GMDS_HUMAN	Q	34;64	ENSP00000436726:R34Q;ENSP00000370194:R64Q	ENSP00000370194:R64Q	R	-	2	0	GMDS	2062746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.525000	0.85131	0.655000	0.94253	CGA		0.378	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3		
MYLK4	340156	broad.mit.edu	37	6	2685592	2685592	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:2685592C>T	ENST00000274643.7	-	6	825	c.483G>A	c.(481-483)gcG>gcA	p.A161A	MYLK4_ENST00000268446.5_Silent_p.A161A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A161A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGATGAGGTTCGCGTGGTCCA	0.567																																					p.A161A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G483A	6						.						263.0	196.0	219.0					6																	2685592		2203	4300	6503	2630591	SO:0001819	synonymous_variant	340156	exon6				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.483G>A	6.37:g.2685592C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2630591	NM_001012418	A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	CCDS34330.1																																																																																				0.567	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	
BPHL	670	broad.mit.edu	37	6	3152726	3152726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:3152726C>T	ENST00000380379.5	+	7	842	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'Flank|BPHL_ENST00000380375.3_Missense_Mutation_p.H248Y|BPHL_ENST00000434640.1_Missense_Mutation_p.H248Y|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000464040.1_3'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	265					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.H248Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTTTAGGCTGCATTTGATGCC	0.408																																					p.H265Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	6						.						149.0	140.0	143.0					6																	3152726		2203	4300	6503	3097725	SO:0001583	missense	670	exon7			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.793C>T	6.37:g.3152726C>T	ENSP00000369739:p.His265Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3097725	NM_004332	Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365921	0.41902	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380379	T;T;T	0.69040	-0.37;-0.37;-0.37	5.9	5.9	0.94986	.	0.045697	0.85682	D	0.000000	T	0.44371	0.1290	L	0.46885	1.475	0.80722	D	1	B;B	0.18741	0.03;0.024	B;B	0.22753	0.041;0.024	T	0.53563	-0.8421	10	0.02654	T	1	-23.1782	20.2789	0.98501	0.0:1.0:0.0:0.0	.	265;248	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	Y	248;248;265	ENSP00000390472:H248Y;ENSP00000369734:H248Y;ENSP00000369739:H265Y	ENSP00000369734:H248Y	H	+	1	0	BPHL	3097725	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.183000	0.58317	2.788000	0.95919	0.650000	0.86243	CAT		0.408	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5		
SLC22A23	63027	broad.mit.edu	37	6	3324086	3324086	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:3324086A>G	ENST00000406686.3	-	4	1063	c.1064T>C	c.(1063-1065)cTc>cCc	p.L355P	SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L74P|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L74P|SLC22A23_ENST00000436008.2_Missense_Mutation_p.L355P|SLC22A23_ENST00000380298.2_Missense_Mutation_p.L355P	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	355					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L355P(1)|p.L74P(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GAGCAGCATGAGCAGGAAGGG	0.647																																					p.L74P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T221C	6						.						43.0	34.0	37.0					6																	3324086		2203	4300	6503	3269085	SO:0001583	missense	63027	exon5			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1064T>C	6.37:g.3324086A>G	ENSP00000385028:p.Leu355Pro	Somatic		Capture	Illumina HiSeq	Phase_I	3269085	NM_021945	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698285	0.68386	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177;ENST00000380298	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.38	3.18	0.36537	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.58509	0.2127	L	0.50333	1.59	0.80722	D	1	D;P	0.54397	0.966;0.926	P;P	0.60117	0.869;0.802	T	0.62900	-0.6756	10	0.87932	D	0	-15.5003	9.923	0.41474	0.9175:0.0:0.0825:0.0	.	355;355	C9J4Z0;A1A5C7	.;S22AN_HUMAN	P	355;355;74;74;183;181;355	ENSP00000410245:L355P;ENSP00000385028:L355P;ENSP00000369657:L74P;ENSP00000419463:L74P;ENSP00000418134:L183P;ENSP00000418985:L181P;ENSP00000369653:L355P	ENSP00000369653:L355P	L	-	2	0	SLC22A23	3269085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.907000	0.75724	0.535000	0.28714	0.459000	0.35465	CTC		0.647	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945	
PRPF4B	8899	broad.mit.edu	37	6	4044204	4044204	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:4044204T>G	ENST00000337659.6	+	6	1908	c.1808T>G	c.(1807-1809)tTt>tGt	p.F603C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.F589C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	603					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F92C(1)|p.F603C(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTTGATACATTTGAGGCCTCA	0.443																																					p.F603C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1808G	6						.						101.0	95.0	97.0					6																	4044204		2203	4300	6503	3989203	SO:0001583	missense	8899	exon6			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1808T>G	6.37:g.4044204T>G	ENSP00000337194:p.Phe603Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3989203	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454975	0.63290	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.68903	-0.34;-0.36	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.71459	0.3342	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.71721	-0.4507	10	0.39692	T	0.17	.	15.3174	0.74092	0.0:0.0:0.0:1.0	.	603	Q13523	PRP4B_HUMAN	C	603;589	ENSP00000337194:F603C;ENSP00000439331:F589C	ENSP00000337194:F603C	F	+	2	0	PRPF4B	3989203	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.578000	0.82498	2.076000	0.62316	0.528000	0.53228	TTT		0.443	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4052944	4052944	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:4052944C>T	ENST00000337659.6	+	11	2412				PRPF4B_ENST00000538861.1_Intron	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B						mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTTAATTTTCTCCTAAAAGC	0.294																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	6						.						40.0	41.0	41.0					6																	4052944		2201	4299	6500	3997943	SO:0001627	intron_variant	8899	.			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2313-10C>T	6.37:g.4052944C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3997943	.	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Intron	SNP	ENST00000337659.6	37	CCDS4488.1																																																																																				0.294	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
RPP40	10799	broad.mit.edu	37	6	4995492	4995492	+	Silent	SNP	C	C	T	rs536356148		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:4995492C>T	ENST00000380051.2	-	8	956	c.912G>A	c.(910-912)ccG>ccA	p.P304P	RPP40_ENST00000319533.5_Silent_p.P281P|RPP40_ENST00000464646.1_Silent_p.P244P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	304					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)	p.P304P(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GAGCTAACTTCGGTTCATCAA	0.363																																					p.P304P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G912A	6						.						56.0	54.0	55.0					6																	4995492		2203	4300	6503	4940491	SO:0001819	synonymous_variant	10799	exon8			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.912G>A	6.37:g.4995492C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4940491	NM_006638	Q5VX97|Q8WVK8	Silent	SNP	ENST00000380051.2	37	CCDS34333.1																																																																																				0.363	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	
F13A1	2162	broad.mit.edu	37	6	6196037	6196037	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:6196037A>G	ENST00000264870.3	-	10	1563	c.1298T>C	c.(1297-1299)tTt>tCt	p.F433S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	433					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F433S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TACCTCTGCAAAAACAAAAGG	0.468																																					p.F433S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1298C	6						.						90.0	73.0	79.0					6																	6196037		2203	4300	6503	6141036	SO:0001583	missense	2162	exon10			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1298T>C	6.37:g.6196037A>G	ENSP00000264870:p.Phe433Ser	Somatic		Capture	Illumina HiSeq	Phase_I	6141036	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384912	0.42308	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.82255	-1.59	5.49	4.31	0.51392	.	0.053483	0.85682	D	0.000000	D	0.88032	0.6328	M	0.83692	2.655	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	D;D	0.85130	0.928;0.997	D	0.89184	0.3546	10	0.87932	D	0	.	9.9173	0.41442	0.7134:0.0:0.0:0.2866	.	370;433	F5H080;P00488	.;F13A_HUMAN	S	433;370	ENSP00000264870:F433S	ENSP00000264870:F433S	F	-	2	0	F13A1	6141036	1.000000	0.71417	0.993000	0.49108	0.012000	0.07955	3.797000	0.55514	0.991000	0.38814	-0.333000	0.08304	TTT		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
SSR1	6745	broad.mit.edu	37	6	7290155	7290155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:7290155G>A	ENST00000244763.4	-	8	889	c.803C>T	c.(802-804)tCa>tTa	p.S268L	SSR1_ENST00000397511.2_Missense_Mutation_p.S273L|SSR1_ENST00000474597.1_Missense_Mutation_p.S273L|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000479365.1_3'UTR|SSR1_ENST00000534851.1_Missense_Mutation_p.S241L|SSR1_ENST00000489567.1_Missense_Mutation_p.S200L	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	268					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.S268L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCTTCTTGGTGAAGCTTTATC	0.373																																					p.S268L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	6						.						92.0	82.0	86.0					6																	7290155		2203	4300	6503	7235154	SO:0001583	missense	6745	exon8				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.803C>T	6.37:g.7290155G>A	ENSP00000244763:p.Ser268Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7235154	NM_003144	A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890903	0.91889	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.53	5.53	0.82687	.	0.205098	0.43416	D	0.000562	T	0.66636	0.2809	M	0.78637	2.42	0.80722	D	1	D;D	0.63046	0.992;0.978	D;P	0.66847	0.947;0.762	T	0.63440	-0.6637	10	0.32370	T	0.25	.	18.4777	0.90799	0.0:0.0:1.0:0.0	.	200;268	C9JBX5;P43307	.;SSRA_HUMAN	L	273;268;273;241;200	ENSP00000418617:S273L;ENSP00000244763:S268L;ENSP00000380647:S273L;ENSP00000443020:S241L;ENSP00000420730:S200L	ENSP00000244763:S268L	S	-	2	0	SSR1	7235154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.596000	0.87737	0.655000	0.94253	TCA		0.373	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2		
DSP	1832	broad.mit.edu	37	6	7585652	7585652	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:7585652G>A	ENST00000379802.3	+	24	8498	c.8157G>A	c.(8155-8157)ccG>ccA	p.P2719P	DSP_ENST00000418664.2_Silent_p.P2120P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2719	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P2719P(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGGCTCCCGTATGAGGCTG	0.552																																					p.P2120P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6360A	6						.																																			7530651	SO:0001819	synonymous_variant	1832	exon24			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8157G>A	6.37:g.7585652G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7530651	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																				0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
BMP6	654	broad.mit.edu	37	6	7845366	7845366	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:7845366C>A	ENST00000283147.6	+	2	823					NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6						BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTTGTTTAATCTTATAGTGGA	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						105.0	103.0	104.0					6																	7845366		2203	4300	6503	7790365	SO:0001627	intron_variant	654	.			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.665-7C>A	6.37:g.7845366C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7790365	.	Q5TCP3	Intron	SNP	ENST00000283147.6	37	CCDS4503.1																																																																																				0.468	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
TXNDC5	81567	broad.mit.edu	37	6	7904929	7904929	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:7904929C>T	ENST00000379757.4	-	2	328	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TXNDC5_ENST00000473453.1_5'UTR|TXNDC5_ENST00000539054.1_Silent_p.P25P|BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.D134N	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	97	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.P97P(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CATTCCAAGTCGGCTGCAGCC	0.557																																					p.P97P	Ovarian(119;1430 1625 3928 26125 34589)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G291A	6						.						120.0	92.0	101.0					6																	7904929		2203	4300	6503	7849928	SO:0001819	synonymous_variant	81567	exon2			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.291G>A	6.37:g.7904929C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7849928	NM_030810	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	CCDS4505.1																																																																																				0.557	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810	
SLC35B3	51000	broad.mit.edu	37	6	8415174	8415174	+	Missense_Mutation	SNP	G	G	A	rs374587821		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:8415174G>A	ENST00000379660.4	-	10	1471	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	341					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S341L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GAATATAAACGAAAGTACAAT	0.294																																					p.S341L	Melanoma(83;700 1353 9357 11478 30548)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1022T	6						.	G	LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	107.0	102.0	104.0		1022,1022,1022	5.1	1.0	6		104	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	SLC35B3	NM_001142540.1,NM_001142541.1,NM_015948.3	145,145,145	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	341/402,341/402,341/402	8415174	1,13001	2202	4299	6501	8360173	SO:0001583	missense	51000	exon10			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.1022C>T	6.37:g.8415174G>A	ENSP00000368981:p.Ser341Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8360173	NM_001142541	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248480	0.95305	0.0	1.16E-4	ENSG00000124786	ENST00000379660	T	0.72051	-0.62	5.1	5.1	0.69264	.	0.113387	0.64402	D	0.000008	D	0.87317	0.6147	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90257	0.4298	9	.	.	.	-3.754	18.8769	0.92341	0.0:0.0:1.0:0.0	.	341;341	Q9H1N7;B2R8V5	S35B3_HUMAN;.	L	341	ENSP00000368981:S341L	.	S	-	2	0	SLC35B3	8360173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.159000	0.94728	2.525000	0.85131	0.585000	0.79938	TCG		0.294	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948	
SYCP2L	221711	broad.mit.edu	37	6	10931723	10931723	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:10931723G>T	ENST00000283141.6	+	20	1979		c.e20+1			NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus (GO:0005634)		p.?(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAAAGACCAAGTAAGTACATT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						170.0	161.0	164.0					6																	10931723		1907	4119	6026	11039709	SO:0001630	splice_region_variant	221711	.			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1683+1G>T	6.37:g.10931723G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11039709	.	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226862	0.58668	.	.	ENSG00000153157	ENST00000283141	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5275	0.61603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP2L	11039709	0.997000	0.39634	0.639000	0.29394	0.472000	0.32918	3.970000	0.56824	2.452000	0.82932	0.563000	0.77884	.		0.368	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Intron
FAM8A1	51439	broad.mit.edu	37	6	17608450	17608450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:17608450G>T	ENST00000259963.3	+	5	1177	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	374	RDD.					integral component of membrane (GO:0016021)		p.K374N(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CTTTGATCAAGAATTTTTCAA	0.348																																					p.K374N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1122T	6						.						158.0	160.0	159.0					6																	17608450		2203	4300	6503	17716429	SO:0001583	missense	51439	exon5			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1122G>T	6.37:g.17608450G>T	ENSP00000259963:p.Lys374Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17716429	NM_016255	B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407055	0.83230	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	4.73	0.59995	RDD (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79926	-0.1597	9	0.66056	D	0.02	-11.4542	15.9794	0.80094	0.0:0.0:0.8648:0.1351	.	374	Q9UBU6	FA8A1_HUMAN	N	124;374	.	ENSP00000259963:K374N	K	+	3	2	FAM8A1	17716429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.413000	0.59795	2.652000	0.90054	0.557000	0.71058	AAG		0.348	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1		
NUP153	9972	broad.mit.edu	37	6	17616803	17616803	+	Missense_Mutation	SNP	G	G	A	rs200059221		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:17616803G>A	ENST00000262077.2	-	21	4297	c.4298C>T	c.(4297-4299)tCg>tTg	p.S1433L	RNU6-190P_ENST00000384154.1_RNA|NUP153_ENST00000537253.1_Missense_Mutation_p.S1464L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1433					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S1433L(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAAGCCCCCCGAGCCTGAAGG	0.448																																					p.S1433L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4298T	6						.						72.0	70.0	71.0					6																	17616803		2203	4300	6503	17724782	SO:0001583	missense	9972	exon21			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4298C>T	6.37:g.17616803G>A	ENSP00000262077:p.Ser1433Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17724782	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578901	0.46006	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.44083	0.93;0.93	5.39	5.39	0.77823	Retro-transposon transporting, conserved site (1);	0.166976	0.28784	N	0.014157	T	0.39226	0.1070	L	0.54323	1.7	0.43977	D	0.996669	D;D;D	0.57571	0.98;0.967;0.98	P;P;P	0.46940	0.477;0.449;0.532	T	0.35475	-0.9787	10	0.59425	D	0.04	-11.2728	19.5142	0.95155	0.0:0.0:1.0:0.0	.	1464;1413;1433	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	1433;1413;1464	ENSP00000262077:S1433L;ENSP00000444029:S1464L	ENSP00000262077:S1433L	S	-	2	0	NUP153	17724782	1.000000	0.71417	0.959000	0.39883	0.147000	0.21601	5.404000	0.66344	2.679000	0.91253	0.655000	0.94253	TCG		0.448	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
KIF13A	63971	broad.mit.edu	37	6	17771359	17771359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:17771359G>A	ENST00000259711.6	-	38	4672	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C	KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378816.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1523					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1523C(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCTTCTCACGTTTGCTATTG	0.473																																					p.R1523C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4567T	6						.						166.0	158.0	160.0					6																	17771359		1994	4177	6171	17879338	SO:0001583	missense	63971	exon38			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4567C>T	6.37:g.17771359G>A	ENSP00000259711:p.Arg1523Cys	Somatic		Capture	Illumina HiSeq	Phase_I	17879338	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195421	0.58126	.	.	ENSG00000137177	ENST00000502297;ENST00000259711	T;T	0.72394	1.82;-0.65	6.03	5.16	0.70880	.	0.797000	0.11846	N	0.523843	T	0.43389	0.1245	N	0.19112	0.55	0.80722	D	1	P	0.51653	0.947	B	0.38296	0.27	T	0.50964	-0.8765	10	0.56958	D	0.05	.	14.7087	0.69211	0.0695:0.0:0.9305:0.0	.	1523	Q9H1H9	KI13A_HUMAN	C	527;1523	ENSP00000425616:R527C;ENSP00000259711:R1523C	ENSP00000259711:R1523C	R	-	1	0	KIF13A	17879338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.160000	0.64929	1.562000	0.49601	0.655000	0.94253	CGT		0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KIF13A	63971	broad.mit.edu	37	6	17826140	17826140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:17826140G>A	ENST00000259711.6	-	16	1750	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	KIF13A_ENST00000378826.2_Nonsense_Mutation_p.R549*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.R549*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.R549*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.R549*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	549					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R549*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AACCAATCTCGACGTTTCCTC	0.388																																					p.R549X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1645T	6						.						134.0	132.0	133.0					6																	17826140		1835	4090	5925	17934119	SO:0001587	stop_gained	63971	exon16			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1645C>T	6.37:g.17826140G>A	ENSP00000259711:p.Arg549*	Somatic		Capture	Illumina HiSeq	Phase_I	17934119	NM_001105566	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	38	7.247710	0.98161	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.98	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2155	0.65790	0.0:0.0:0.6164:0.3836	.	.	.	.	X	549	.	ENSP00000259711:R549X	R	-	1	2	KIF13A	17934119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.081000	0.50120	1.494000	0.48533	0.591000	0.81541	CGA		0.388	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KIF13A	63971	broad.mit.edu	37	6	17855690	17855690	+	Missense_Mutation	SNP	G	G	A	rs73726225	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:17855690G>A	ENST00000259711.6	-	6	577	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	KIF13A_ENST00000378826.2_Missense_Mutation_p.R158W|KIF13A_ENST00000378814.5_Missense_Mutation_p.R158W|KIF13A_ENST00000378843.2_Missense_Mutation_p.R158W|KIF13A_ENST00000378816.5_Missense_Mutation_p.R158W	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R158W(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAAAGATCCCGAACTTTCTCA	0.343													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0				p.R158W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	6						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	22,3578		0,22,1778	66.0	67.0	67.0		472,472,472,472	5.9	1.0	6	dbSNP_130	67	2,8130		0,2,4064	yes	missense,missense,missense,missense	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	101,101,101,101	0,24,5842	AA,AG,GG		0.0246,0.6111,0.2046	probably-damaging,probably-damaging,probably-damaging,probably-damaging	158/1771,158/1758,158/1750,158/1806	17855690	24,11708	1800	4066	5866	17963669	SO:0001583	missense	63971	exon6			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.472C>T	6.37:g.17855690G>A	ENSP00000259711:p.Arg158Trp	Somatic		Capture	Illumina HiSeq	Phase_I	17963669	NM_001105566	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	28.8	4.951855	0.92660	0.006111	2.46E-4	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.86	5.86	0.93980	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.93283	3.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;1.0;1.0	D	0.95998	0.8991	10	0.87932	D	0	.	14.8415	0.70230	0.0:0.0:0.8223:0.1777	.	158;158;158;158	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	W	158	ENSP00000368091:R158W;ENSP00000259711:R158W;ENSP00000368103:R158W;ENSP00000368120:R158W;ENSP00000368093:R158W	ENSP00000259711:R158W	R	-	1	2	KIF13A	17963669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.191000	0.65110	2.777000	0.95525	0.655000	0.94253	CGG		0.343	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
MBOAT1	154141	broad.mit.edu	37	6	20109980	20109980	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:20109980C>T	ENST00000324607.7	-	12	1374	c.1210G>A	c.(1210-1212)Gtc>Atc	p.V404I	MBOAT1_ENST00000541730.1_Splice_Site_p.V255I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	404					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.V404I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TTGTTCCTGACCTGCAGGCCA	0.488																																					p.V404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210A	6						.						104.0	93.0	97.0					6																	20109980		2203	4300	6503	20217959	SO:0001630	splice_region_variant	154141	exon12			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1210-1G>A	6.37:g.20109980C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20217959	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	4.167	0.029444	0.08054	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.71461	-0.57;-0.57	5.38	2.61	0.31194	.	0.295330	0.40554	N	0.001069	T	0.25717	0.0626	N	0.16037	0.36	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.19666	0.026;0.009	T	0.24404	-1.0161	10	0.05833	T	0.94	-7.8174	8.9898	0.36017	0.0:0.6869:0.0:0.3131	.	255;404	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	255;404	ENSP00000441568:V255I;ENSP00000324944:V404I	ENSP00000324944:V404I	V	-	1	0	MBOAT1	20217959	0.985000	0.35326	0.998000	0.56505	0.196000	0.23810	0.183000	0.16919	0.744000	0.32741	0.655000	0.94253	GTC		0.488	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		Missense_Mutation
MBOAT1	154141	broad.mit.edu	37	6	20128943	20128943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:20128943G>A	ENST00000324607.7	-	6	681	c.517C>T	c.(517-519)Cga>Tga	p.R173*	MBOAT1_ENST00000541730.1_Nonsense_Mutation_p.R24*|MBOAT1_ENST00000536798.1_Nonsense_Mutation_p.R173*	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	173					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.R173*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATAGCAAGTCGATGTTGTTCA	0.308																																					p.R173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C517T	6						.						115.0	109.0	111.0					6																	20128943		2203	4299	6502	20236922	SO:0001587	stop_gained	154141	exon6			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.517C>T	6.37:g.20128943G>A	ENSP00000324944:p.Arg173*	Somatic		Capture	Illumina HiSeq	Phase_I	20236922	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Nonsense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	G	37	6.229812	0.97394	.	.	ENSG00000172197	ENST00000541730;ENST00000324607;ENST00000536798	.	.	.	5.3	4.42	0.53409	.	0.356150	0.29459	N	0.012083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	0.1217	11.8158	0.52209	0.0:0.1329:0.729:0.1381	.	.	.	.	X	24;173;173	.	ENSP00000324944:R173X	R	-	1	2	MBOAT1	20236922	0.402000	0.25311	0.636000	0.29352	0.030000	0.12068	2.661000	0.46758	1.452000	0.47756	-0.182000	0.12963	CGA		0.308	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
PRL	5617	broad.mit.edu	37	6	22290587	22290587	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:22290587G>A	ENST00000306482.1	-	4	831				RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.?(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TTTTTGCTACGAAACCATATA	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						79.0	76.0	77.0					6																	22290587		2203	4300	6503	22398566	SO:0001627	intron_variant	5617	.			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.313-5C>T	6.37:g.22290587G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22398566	.	Q15199|Q92996	Intron	SNP	ENST00000306482.1	37	CCDS4548.1																																																																																				0.378	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948	
DCDC2	51473	broad.mit.edu	37	6	24205259	24205259	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24205259C>A	ENST00000378454.3	-	8	1295	c.994G>T	c.(994-996)Gat>Tat	p.D332Y	DCDC2_ENST00000378450.3_Missense_Mutation_p.D85Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	332					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.D332Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACCTGAGTATCTTCATCTTCT	0.398																																					p.D332Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994T	6						.						269.0	249.0	256.0					6																	24205259		2203	4300	6503	24313238	SO:0001583	missense	51473	exon8			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.994G>T	6.37:g.24205259C>A	ENSP00000367715:p.Asp332Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24313238	NM_016356	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936917	0.73557	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.55413	4.24;0.52	6.07	6.07	0.98685	.	0.212377	0.49305	D	0.000142	T	0.62962	0.2471	M	0.64997	1.995	0.46874	D	0.999235	D;D	0.89917	0.994;1.0	P;D	0.74348	0.819;0.983	T	0.65483	-0.6157	10	0.87932	D	0	-14.0823	13.4808	0.61334	0.0:0.9283:0.0:0.0717	.	332;85	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	Y	332;85	ENSP00000367715:D332Y;ENSP00000367711:D85Y	ENSP00000367711:D85Y	D	-	1	0	DCDC2	24313238	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.549000	0.53681	2.885000	0.99019	0.655000	0.94253	GAT		0.398	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
DCDC2	51473	broad.mit.edu	37	6	24278358	24278358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24278358C>A	ENST00000378454.3	-	7	1142	c.841G>T	c.(841-843)Gaa>Taa	p.E281*		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	281					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.E281*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTCACGTCTTCTTTTTTCCCT	0.358																																					p.E281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G841T	6						.						150.0	141.0	144.0					6																	24278358		2203	4300	6503	24386337	SO:0001587	stop_gained	51473	exon7			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.841G>T	6.37:g.24278358C>A	ENSP00000367715:p.Glu281*	Somatic		Capture	Illumina HiSeq	Phase_I	24386337	NM_016356	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Nonsense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760472	0.89932	.	.	ENSG00000146038	ENST00000378454	.	.	.	4.61	2.83	0.33086	.	0.978966	0.08409	N	0.950255	.	.	.	.	.	.	0.24408	N	0.994677	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	3.133	6.7695	0.23587	0.0:0.7129:0.0:0.2871	.	.	.	.	X	281	.	ENSP00000367715:E281X	E	-	1	0	DCDC2	24386337	0.682000	0.27624	0.114000	0.21550	0.106000	0.19336	1.105000	0.31086	0.676000	0.31285	-0.258000	0.10820	GAA		0.358	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
DCDC2	51473	broad.mit.edu	37	6	24353794	24353794	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24353794T>C	ENST00000378454.3	-	2	650					NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.?(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ATATTTGCATTACCTCTGTAT	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						97.0	96.0	96.0					6																	24353794		2200	4296	6496	24461773	SO:0001627	intron_variant	51473	.			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.348+2A>G	6.37:g.24353794T>C		Somatic		Capture	Illumina HiSeq	Phase_I	24461773	.	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Intron	SNP	ENST00000378454.3	37	CCDS4550.1																																																																																				0.323	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
GPLD1	2822	broad.mit.edu	37	6	24445818	24445818	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24445818T>G	ENST00000230036.1	-	20	2086	c.1976A>C	c.(1975-1977)aAt>aCt	p.N659T		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	659					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.N659T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CAGAGTCCCATTCATCAGTAC	0.473																																					p.N659T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1976C	6						.						157.0	130.0	139.0					6																	24445818		2203	4300	6503	24553797	SO:0001583	missense	2822	exon20			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1976A>C	6.37:g.24445818T>G	ENSP00000230036:p.Asn659Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24553797	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	T	3.658	-0.070074	0.07228	.	.	ENSG00000112293	ENST00000230036	T	0.72167	-0.63	4.79	3.61	0.41365	.	0.244133	0.34507	N	0.003905	T	0.45756	0.1358	L	0.51853	1.615	0.09310	N	0.999998	P	0.40144	0.704	B	0.39119	0.291	T	0.27806	-1.0063	10	0.33940	T	0.23	-17.4443	10.2563	0.43399	0.0:0.0:0.3166:0.6834	.	659	P80108	PHLD_HUMAN	T	659	ENSP00000230036:N659T	ENSP00000230036:N659T	N	-	2	0	GPLD1	24553797	0.777000	0.28628	0.004000	0.12327	0.000000	0.00434	3.541000	0.53618	0.761000	0.33130	-0.313000	0.08912	AAT		0.473	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
GPLD1	2822	broad.mit.edu	37	6	24448111	24448111	+	Missense_Mutation	SNP	C	C	T	rs146993893	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24448111C>T	ENST00000230036.1	-	17	1782	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	558					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.D558N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTACCTTTGTCGCTCAGGCTG	0.522													C|||	21	0.00419329	0.0	0.0	5008	,	,		20013	0.0208		0.0	False		,,,				2504	0.0				p.D558N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1672A	6						.	C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	61.0	60.0	60.0		1672	-8.1	0.0	6	dbSNP_134	60	0,8600		0,0,4300	yes	missense	GPLD1	NM_001503.2	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	558/841	24448111	2,13004	2203	4300	6503	24556090	SO:0001583	missense	2822	exon17			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1672G>A	6.37:g.24448111C>T	ENSP00000230036:p.Asp558Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24556090	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	C	0.158	-1.083771	0.01888	4.54E-4	0.0	ENSG00000112293	ENST00000230036	T	0.71341	-0.56	4.81	-8.15	0.01065	.	1.225560	0.05453	N	0.549849	T	0.14227	0.0344	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09796	-1.0658	10	0.10902	T	0.67	-2.373	10.5657	0.45171	0.0:0.183:0.1689:0.6481	.	558	P80108	PHLD_HUMAN	N	558	ENSP00000230036:D558N	ENSP00000230036:D558N	D	-	1	0	GPLD1	24556090	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-4.305000	0.00256	-2.260000	0.00692	-1.106000	0.02097	GAC		0.522	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
ALDH5A1	7915	broad.mit.edu	37	6	24520766	24520766	+	Silent	SNP	T	T	G	rs375086516		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24520766T>G	ENST00000357578.3	+	6	1153	c.1008T>G	c.(1006-1008)acT>acG	p.T336T	ALDH5A1_ENST00000491546.1_Silent_p.T308T|ALDH5A1_ENST00000348925.2_Silent_p.T349T|ALDH5A1_ENST00000546278.1_Silent_p.T248T	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	336					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.T349T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TTAGGAACACTGGACAGGTGA	0.493																																					p.T349T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1047G	6						.						109.0	107.0	108.0					6																	24520766		2203	4300	6503	24628745	SO:0001819	synonymous_variant	7915	exon7			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1008T>G	6.37:g.24520766T>G		Somatic		Capture	Illumina HiSeq	Phase_I	24628745	NM_170740	B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	CCDS4555.1																																																																																				0.493	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		
KIAA0319	9856	broad.mit.edu	37	6	24569154	24569154	+	Silent	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24569154G>C	ENST00000378214.3	-	13	2519	c.1995C>G	c.(1993-1995)ggC>ggG	p.G665G	KIAA0319_ENST00000543707.1_Silent_p.G665G|KIAA0319_ENST00000430948.2_Silent_p.G620G|KIAA0319_ENST00000535378.1_Silent_p.G656G|KIAA0319_ENST00000537886.1_Silent_p.G665G	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	665	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G665G(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGCACTGGGGCCTCTATAAA	0.463																																					p.G620G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1860G	6						.						71.0	68.0	69.0					6																	24569154		2203	4300	6503	24677133	SO:0001819	synonymous_variant	9856	exon12			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1995C>G	6.37:g.24569154G>C		Somatic		Capture	Illumina HiSeq	Phase_I	24677133	NM_001168376	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	CCDS34348.1																																																																																				0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
KIAA0319	9856	broad.mit.edu	37	6	24583938	24583938	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24583938T>G	ENST00000378214.3	-	5	1519				KIAA0319_ENST00000543707.1_Intron|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_Intron|KIAA0319_ENST00000537886.1_Intron	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319						negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCACTAAAAGTTAATTAGAAA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						57.0	57.0	57.0					6																	24583938		2203	4300	6503	24691917	SO:0001627	intron_variant	9856	.			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.995-8A>C	6.37:g.24583938T>G		Somatic		Capture	Illumina HiSeq	Phase_I	24691917	.	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Intron	SNP	ENST00000378214.3	37	CCDS34348.1																																																																																				0.338	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
KIAA0319	9856	broad.mit.edu	37	6	24601308	24601308	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24601308G>A	ENST00000378214.3	-	2	548	c.24C>T	c.(22-24)ctC>ctT	p.L8L	KIAA0319_ENST00000543707.1_Silent_p.L8L|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000537886.1_Silent_p.L8L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	8					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L8L(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCAATGAAGAGAGCACACCTG	0.527																																					p.L8L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24T	6						.						107.0	107.0	107.0					6																	24601308		2203	4300	6503	24709287	SO:0001819	synonymous_variant	9856	exon2			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.24C>T	6.37:g.24601308G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24709287	NM_001168375	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	CCDS34348.1																																																																																				0.527	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
GMNN	51053	broad.mit.edu	37	6	24777492	24777492	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24777492G>A	ENST00000230056.3	+	2	350	c.18G>A	c.(16-18)aaG>aaA	p.K6K	GMNN_ENST00000356509.3_Silent_p.K6K	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	6					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.K6K(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CCAGTATGAAGCAGAAACAAG	0.318																																					p.K6K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G18A	6						.						51.0	49.0	50.0					6																	24777492		2201	4294	6495	24885471	SO:0001819	synonymous_variant	51053	exon2			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.18G>A	6.37:g.24777492G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24885471	NM_015895	B3KMM8|Q9H1Z1	Silent	SNP	ENST00000230056.3	37	CCDS4560.1																																																																																				0.318	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895	
GMNN	51053	broad.mit.edu	37	6	24785865	24785865	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24785865G>T	ENST00000230056.3	+	7	800		c.e7-1		GMNN_ENST00000356509.3_Splice_Site	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor						mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						TTCTTTAAAAGAGACTGAATG	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						48.0	52.0	50.0					6																	24785865		2202	4300	6502	24893844	SO:0001630	splice_region_variant	51053	.			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.469-1G>T	6.37:g.24785865G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24893844	.	B3KMM8|Q9H1Z1	Splice_Site	SNP	ENST00000230056.3	37	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144608	0.77888	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.957	0.92662	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMNN	24893844	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.510000	0.73729	2.824000	0.97209	0.655000	0.94253	.		0.338	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895	Intron
GMNN	51053	broad.mit.edu	37	6	24786006	24786006	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24786006G>A	ENST00000230056.3	+	7	941	c.609G>A	c.(607-609)acG>acA	p.T203T	GMNN_ENST00000356509.3_Silent_p.T203T	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	203			T -> M (in dbSNP:rs2307303).		mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.T203T(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CTTCCTCTACGGATGCAAAGC	0.378																																					p.T203T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G609A	6						.						123.0	126.0	125.0					6																	24786006		2203	4300	6503	24893985	SO:0001819	synonymous_variant	51053	exon7			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.609G>A	6.37:g.24786006G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24893985	NM_015895	B3KMM8|Q9H1Z1	Silent	SNP	ENST00000230056.3	37	CCDS4560.1																																																																																				0.378	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895	
FAM65B	9750	broad.mit.edu	37	6	24843135	24843135	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24843135A>G	ENST00000259698.4	-	14	2050	c.1875T>C	c.(1873-1875)ttT>ttC	p.F625F	FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000538035.1_Silent_p.F604F|FAM65B_ENST00000510784.2_Silent_p.F609F|FAM65B_ENST00000378023.4_Silent_p.F575F|FAM65B_ENST00000540914.1_Silent_p.F575F|AL512428.1_ENST00000583229.1_RNA	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	625					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.F575F(1)|p.F625F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCAGATCCTGAAACTCTTTAT	0.378																																					p.F625F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1875C	6						.						76.0	74.0	74.0					6																	24843135		1846	4100	5946	24951114	SO:0001819	synonymous_variant	9750	exon14			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1875T>C	6.37:g.24843135A>G		Somatic		Capture	Illumina HiSeq	Phase_I	24951114	NM_014722	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																				0.378	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		
FAM65B	9750	broad.mit.edu	37	6	24843470	24843470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:24843470C>T	ENST00000259698.4	-	14	1715	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000538035.1_Missense_Mutation_p.A493T|FAM65B_ENST00000510784.2_Missense_Mutation_p.A498T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A464T|FAM65B_ENST00000540914.1_Missense_Mutation_p.A464T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	514					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.A514T(1)|p.A464T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCAGATGGGGCCGAGGCAGGT	0.577																																					p.A514T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1540A	6						.						68.0	68.0	68.0					6																	24843470		1910	4108	6018	24951449	SO:0001583	missense	9750	exon14			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1540G>A	6.37:g.24843470C>T	ENSP00000259698:p.Ala514Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24951449	NM_014722	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849283	0.17034	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	4.19	3.31	0.37934	.	1.378620	0.05211	U	0.506826	T	0.10551	0.0258	L	0.38175	1.15	0.09310	N	0.99999	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.24905	-1.0147	10	0.33940	T	0.23	.	7.9818	0.30188	0.0:0.8128:0.0:0.1872	.	498;493;464;514	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	514;493;464;464;498	ENSP00000259698:A514T;ENSP00000441138:A493T;ENSP00000367262:A464T;ENSP00000438425:A464T;ENSP00000441305:A498T	ENSP00000259698:A514T	A	-	1	0	FAM65B	24951449	0.000000	0.05858	0.020000	0.16555	0.235000	0.25334	-0.124000	0.10595	1.104000	0.41587	0.655000	0.94253	GCC		0.577	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		
LRRC16A	55604	broad.mit.edu	37	6	25450908	25450908	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25450908A>C	ENST00000329474.6	+	8	951	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LRRC16A_ENST00000377969.3_Missense_Mutation_p.N34H	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	195					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.N195H(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGGGAATTGAATTTACAAGA	0.448																																					p.N195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A583C	6						.						83.0	83.0	83.0					6																	25450908		1891	4108	5999	25558887	SO:0001583	missense	55604	exon8			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.583A>C	6.37:g.25450908A>C	ENSP00000331983:p.Asn195His	Somatic		Capture	Illumina HiSeq	Phase_I	25558887	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098132	0.76870	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.53857	0.6;0.6	5.16	5.16	0.70880	.	0.161279	0.53938	D	0.000053	T	0.65913	0.2737	M	0.69523	2.12	0.54753	D	0.999981	D;D;D;D	0.89917	1.0;0.999;1.0;0.995	D;D;D;P	0.91635	0.999;0.99;0.999;0.834	T	0.70454	-0.4867	10	0.72032	D	0.01	.	15.5009	0.75698	1.0:0.0:0.0:0.0	.	195;195;195;34	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	H	195;195;34	ENSP00000331983:N195H;ENSP00000367206:N34H	ENSP00000331983:N195H	N	+	1	0	LRRC16A	25558887	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.337000	0.90036	2.295000	0.77249	0.524000	0.50904	AAT		0.448	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
LRRC16A	55604	broad.mit.edu	37	6	25529110	25529110	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25529110A>C	ENST00000329474.6	+	24	2424	c.2056A>C	c.(2056-2058)Acc>Ccc	p.T686P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	686					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.T686P(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCACCAGCACCACCCAGCA	0.473																																					p.T686P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2056C	6						.						22.0	26.0	25.0					6																	25529110		1971	4163	6134	25637089	SO:0001583	missense	55604	exon24			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2056A>C	6.37:g.25529110A>C	ENSP00000331983:p.Thr686Pro	Somatic		Capture	Illumina HiSeq	Phase_I	25637089	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602745	0.87157	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.50277	0.75	5.69	5.69	0.88448	.	0.045312	0.85682	D	0.000000	T	0.48732	0.1516	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.48658	-0.9016	10	0.38643	T	0.18	.	15.6029	0.76639	1.0:0.0:0.0:0.0	.	686;686;686;686	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	P	686	ENSP00000331983:T686P	ENSP00000331983:T686P	T	+	1	0	LRRC16A	25637089	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.554000	0.90689	2.157000	0.67596	0.533000	0.62120	ACC		0.473	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
LRRC16A	55604	broad.mit.edu	37	6	25606347	25606347	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25606347G>T	ENST00000329474.6	+	35	4061	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1231					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.K1186N(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACCAGAAAAGAATACCAAAG	0.512																																					p.K1231N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3693T	6						.						56.0	63.0	61.0					6																	25606347		1889	4116	6005	25714326	SO:0001583	missense	55604	exon35			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3693G>T	6.37:g.25606347G>T	ENSP00000331983:p.Lys1231Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25714326	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129427	0.56721	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17213	2.29	5.85	4.87	0.63330	.	0.254813	0.40144	N	0.001162	T	0.11196	0.0273	M	0.65975	2.015	0.80722	D	1	P;P;D	0.53745	0.893;0.937;0.962	P;P;P	0.46479	0.482;0.482;0.518	T	0.06463	-1.0825	10	0.38643	T	0.18	-15.6333	3.8557	0.08974	0.3228:0.0:0.6772:0.0	.	1231;1225;1186	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	N	1231;1186	ENSP00000331983:K1231N	ENSP00000331983:K1231N	K	+	3	2	LRRC16A	25714326	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	3.486000	0.53215	2.753000	0.94483	0.655000	0.94253	AAG		0.512	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
HIST1H2AA	221613	broad.mit.edu	37	6	25726523	25726523	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25726523C>T	ENST00000297012.3	-	1	267	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	78						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R78H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGGAATAATGCGAGTTTTTTT	0.547																																					p.R78H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	6						.						289.0	241.0	257.0					6																	25726523		2203	4300	6503	25834502	SO:0001583	missense	221613	exon1			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.233G>A	6.37:g.25726523C>T	ENSP00000297012:p.Arg78His	Somatic		Capture	Illumina HiSeq	Phase_I	25834502	NM_170745		Missense_Mutation	SNP	ENST00000297012.3	37	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826695	0.32329	.	.	ENSG00000164508	ENST00000297012	T	0.69435	-0.4	3.55	2.68	0.31781	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.51477	D	0.000093	T	0.65575	0.2704	H	0.97214	3.96	0.54753	D	0.999985	B	0.27416	0.178	B	0.21917	0.037	T	0.73119	-0.4083	10	0.87932	D	0	.	9.224	0.37395	0.0:0.889:0.0:0.111	.	78	Q96QV6	H2A1A_HUMAN	H	78	ENSP00000297012:R78H	ENSP00000297012:R78H	R	-	2	0	HIST1H2AA	25834502	0.975000	0.34042	0.885000	0.34714	0.041000	0.13682	5.615000	0.67702	1.085000	0.41206	-0.142000	0.14014	CGC		0.547	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745	
HIST1H2BA	255626	broad.mit.edu	37	6	25727437	25727437	+	Missense_Mutation	SNP	C	C	T	rs149864212		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25727437C>T	ENST00000274764.2	+	1	301	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	101					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R101C(1)		breast(1)|kidney(1)	2						GACAGCAGTGCGCTTGCTACT	0.522																																					p.R101C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	6						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	292.0	213.0	240.0		301	2.5	0.0	6	dbSNP_134	240	0,8600		0,0,4300	no	missense	HIST1H2BA	NM_170610.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	101/128	25727437	1,13005	2203	4300	6503	25835416	SO:0001583	missense	255626	exon1			AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.301C>T	6.37:g.25727437C>T	ENSP00000274764:p.Arg101Cys	Somatic		Capture	Illumina HiSeq	Phase_I	25835416	NM_170610	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640201	0.29157	2.27E-4	0.0	ENSG00000146047	ENST00000274764	T	0.52754	0.65	3.32	2.46	0.29980	Histone-fold (2);Histone core (1);	0.079544	0.50627	D	0.000112	T	0.66406	0.2786	H	0.94886	3.595	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71731	-0.4504	10	0.46703	T	0.11	.	10.1163	0.42593	0.0:0.8954:0.0:0.1046	.	101	Q96A08	H2B1A_HUMAN	C	101	ENSP00000274764:R101C	ENSP00000274764:R101C	R	+	1	0	HIST1H2BA	25835416	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	2.474000	0.45154	0.974000	0.38366	-0.147000	0.13772	CGC		0.522	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
SLC17A1	6568	broad.mit.edu	37	6	25799020	25799020	+	Missense_Mutation	SNP	C	C	T	rs139792251	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25799020C>T	ENST00000244527.4	-	12	1512	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	SLC17A1_ENST00000468082.1_Missense_Mutation_p.R412H|SLC17A1_ENST00000427328.1_Missense_Mutation_p.R412H|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R466H	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	466					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.R466H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CCTTCAGAGACGTGTGTGTTG	0.418													C|||	2	0.000399361	0.0	0.0	5008	,	,		16866	0.002		0.0	False		,,,				2504	0.0				p.R466H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1397A	6						.						132.0	123.0	126.0					6																	25799020		2203	4300	6503	25906999	SO:0001583	missense	6568	exon12				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1397G>A	6.37:g.25799020C>T	ENSP00000244527:p.Arg466His	Somatic		Capture	Illumina HiSeq	Phase_I	25906999	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	9.612	1.131540	0.21041	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.71579	-0.28;-0.58;-0.28;-0.58	3.97	-0.329	0.12686	.	0.195954	0.25338	N	0.031400	T	0.35248	0.0925	L	0.54323	1.7	0.09310	N	1	P;P	0.40107	0.703;0.579	B;B	0.35413	0.202;0.062	T	0.23332	-1.0191	10	0.37606	T	0.19	.	2.6923	0.05124	0.2091:0.4061:0.0:0.3848	.	412;466	Q14916-2;Q14916	.;NPT1_HUMAN	H	466;412;466;412	ENSP00000244527:R466H;ENSP00000410549:R412H;ENSP00000420614:R466H;ENSP00000420546:R412H	ENSP00000244527:R466H	R	-	2	0	SLC17A1	25906999	0.000000	0.05858	0.001000	0.08648	0.727000	0.41649	-0.131000	0.10482	0.091000	0.17302	0.655000	0.94253	CGT		0.418	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
SLC17A1	6568	broad.mit.edu	37	6	25819358	25819358	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25819358A>G	ENST00000244527.4	-	6	669	c.554T>C	c.(553-555)gTc>gCc	p.V185A	SLC17A1_ENST00000468082.1_Missense_Mutation_p.V185A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V185A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V185A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	185					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.V185A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CACAAGTAGGACAATAAAGGG	0.413																																					p.V185A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T554C	6						.						52.0	51.0	51.0					6																	25819358		2203	4300	6503	25927337	SO:0001583	missense	6568	exon6				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.554T>C	6.37:g.25819358A>G	ENSP00000244527:p.Val185Ala	Somatic		Capture	Illumina HiSeq	Phase_I	25927337	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	A	4.094	0.015499	0.07959	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.43	-0.805	0.10879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.743369	0.11485	N	0.559343	T	0.10981	0.0268	N	0.20483	0.58	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.26864	0.044;0.074	T	0.40627	-0.9553	10	0.02654	T	1	.	7.4619	0.27300	0.539:0.0:0.461:0.0	.	185;185	Q14916-2;Q14916	.;NPT1_HUMAN	A	185	ENSP00000244527:V185A;ENSP00000410549:V185A;ENSP00000420614:V185A;ENSP00000420546:V185A	ENSP00000244527:V185A	V	-	2	0	SLC17A1	25927337	0.000000	0.05858	0.055000	0.19348	0.400000	0.30750	-0.027000	0.12371	0.004000	0.14682	0.528000	0.53228	GTC		0.413	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
SLC17A2	10246	broad.mit.edu	37	6	25917040	25917040	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25917040G>A	ENST00000265425.3	-	7	823	c.803C>T	c.(802-804)gCg>gTg	p.A268V	SLC17A2_ENST00000377850.3_Missense_Mutation_p.A268V|SLC17A2_ENST00000360488.3_Missense_Mutation_p.A268V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	268					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A268V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTGACCATCGCCTTTATGGG	0.473																																					p.A268V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	6						.						98.0	91.0	93.0					6																	25917040		2203	4300	6503	26025019	SO:0001583	missense	10246	exon8			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.803C>T	6.37:g.25917040G>A	ENSP00000265425:p.Ala268Val	Somatic		Capture	Illumina HiSeq	Phase_I	26025019	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.029255	0.75504	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.59772	0.24;0.24;0.24	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.238899	0.29752	N	0.011285	T	0.76385	0.3980	M	0.94021	3.485	0.37110	D	0.900292	D;D;D	0.69078	0.994;0.983;0.997	D;P;D	0.67382	0.951;0.804;0.918	T	0.82497	-0.0428	10	0.66056	D	0.02	.	13.2415	0.59999	0.0:0.0:1.0:0.0	.	268;268;268	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	268	ENSP00000353677:A268V;ENSP00000367081:A268V;ENSP00000265425:A268V	ENSP00000265425:A268V	A	-	2	0	SLC17A2	26025019	1.000000	0.71417	0.994000	0.49952	0.574000	0.36063	6.572000	0.74005	2.557000	0.86248	0.563000	0.77884	GCG		0.473	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
SLC17A2	10246	broad.mit.edu	37	6	25923933	25923933	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25923933A>C	ENST00000265425.3	-	2	250	c.230T>G	c.(229-231)tTt>tGt	p.F77C	SLC17A2_ENST00000377850.3_Missense_Mutation_p.F77C|SLC17A2_ENST00000360488.3_Missense_Mutation_p.F77C			O00624	NPT3_HUMAN	solute carrier family 17, member 2	77					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.F77C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTGTATCAAATTCCTTGAT	0.423																																					p.F77C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T230G	6						.						156.0	158.0	157.0					6																	25923933		2203	4300	6503	26031912	SO:0001583	missense	10246	exon3			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.230T>G	6.37:g.25923933A>C	ENSP00000265425:p.Phe77Cys	Somatic		Capture	Illumina HiSeq	Phase_I	26031912	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	A	12.12	1.841764	0.32513	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.80994	-1.44;-1.44;-1.44	5.23	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.984034	0.08289	N	0.968774	T	0.59542	0.2201	N	0.14661	0.345	0.09310	N	1	P;P;P	0.48911	0.917;0.544;0.775	P;P;P	0.52627	0.704;0.586;0.451	T	0.54351	-0.8307	10	0.38643	T	0.18	.	7.6929	0.28577	0.779:0.14:0.081:0.0	.	77;77;77	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	C	77	ENSP00000353677:F77C;ENSP00000367081:F77C;ENSP00000265425:F77C	ENSP00000265425:F77C	F	-	2	0	SLC17A2	26031912	0.054000	0.20591	0.001000	0.08648	0.003000	0.03518	1.748000	0.38308	0.130000	0.18549	-1.162000	0.01777	TTT		0.423	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
TRIM38	10475	broad.mit.edu	37	6	25972315	25972315	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25972315G>T	ENST00000357085.3	+	5	1202	c.726G>T	c.(724-726)caG>caT	p.Q242H	TRIM38_ENST00000349458.3_Missense_Mutation_p.Q242H	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	242					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.Q242H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCTCAGCCCAGAAATTGCTGC	0.463																																					p.Q242H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	6						.						50.0	55.0	53.0					6																	25972315		2203	4300	6503	26080294	SO:0001583	missense	10475	exon5			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.726G>T	6.37:g.25972315G>T	ENSP00000349596:p.Gln242His	Somatic		Capture	Illumina HiSeq	Phase_I	26080294	NM_006355	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	N	9.469	1.095228	0.20471	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04706	3.57;3.57;3.57	4.55	2.79	0.32731	.	0.000000	0.42294	D	0.000733	T	0.04907	0.0132	M	0.63428	1.95	0.18873	N	0.999987	D;D	0.69078	0.997;0.997	P;P	0.56865	0.808;0.808	T	0.26224	-1.0109	10	0.41790	T	0.15	.	7.5109	0.27573	0.1933:0.0:0.8067:0.0	.	242;242	B2R862;O00635	.;TRI38_HUMAN	H	242	ENSP00000443976:Q242H;ENSP00000230099:Q242H;ENSP00000349596:Q242H	ENSP00000230099:Q242H	Q	+	3	2	TRIM38	26080294	0.000000	0.05858	0.242000	0.24170	0.004000	0.04260	0.203000	0.17315	0.857000	0.35407	-0.137000	0.14449	CAG		0.463	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
TRIM38	10475	broad.mit.edu	37	6	25983578	25983578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:25983578G>A	ENST00000357085.3	+	8	1537	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	U91328.21_ENST00000608931.1_RNA|TRIM38_ENST00000349458.3_Missense_Mutation_p.G354D	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	354	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G354D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GTGGATGTTGGCGAAGGAACC	0.507																																					p.G354D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1061A	6						.						126.0	123.0	124.0					6																	25983578		2203	4300	6503	26091557	SO:0001583	missense	10475	exon8			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1061G>A	6.37:g.25983578G>A	ENSP00000349596:p.Gly354Asp	Somatic		Capture	Illumina HiSeq	Phase_I	26091557	NM_006355	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	17.05	3.289188	0.59976	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.62105	0.05;0.05;0.05	4.16	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.142302	0.32836	N	0.005596	T	0.67674	0.2918	M	0.80847	2.515	0.31857	N	0.621504	D;D	0.71674	0.998;0.998	D;D	0.66716	0.946;0.946	T	0.67799	-0.5577	10	0.59425	D	0.04	.	9.4309	0.38608	0.1085:0.0:0.8915:0.0	.	354;354	B2R862;O00635	.;TRI38_HUMAN	D	354	ENSP00000443976:G354D;ENSP00000230099:G354D;ENSP00000349596:G354D	ENSP00000230099:G354D	G	+	2	0	TRIM38	26091557	0.554000	0.26522	0.971000	0.41717	0.945000	0.59286	0.972000	0.29409	1.308000	0.44962	0.591000	0.81541	GGC		0.507	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
HIST1H4C	8364	broad.mit.edu	37	6	26104367	26104367	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26104367G>A	ENST00000377803.2	+	1	264	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64E(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TTTTCTTAGAGAACGTTATTC	0.532																																					p.E64E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G192A	6						.						74.0	67.0	70.0					6																	26104367		2203	4300	6503	26212346	SO:0001819	synonymous_variant	8364	exon1			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.192G>A	6.37:g.26104367G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26212346	NM_003542	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	37	CCDS4583.1																																																																																				0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542	
HIST1H2BC	8347	broad.mit.edu	37	6	26123939	26123939	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26123939G>T	ENST00000314332.5	-	1	199	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562																																					p.S65Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C194A	6						.						161.0	152.0	155.0					6																	26123939		2203	4300	6503	26231918	SO:0001583	missense	8347	exon1			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.194C>A	6.37:g.26123939G>T	ENSP00000321744:p.Ser65Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	26231918	NM_003526	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.093851	0.76870	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.71103	-0.54;-0.54	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83640	0.5298	.	.	.	0.46279	D	0.998964	D	0.89917	1.0	D	0.85130	0.997	D	0.84829	0.0801	8	0.87932	D	0	.	18.9929	0.92801	0.0:0.0:1.0:0.0	.	65	P62807	H2B1C_HUMAN	Y	65	ENSP00000321744:S65Y;ENSP00000380180:S65Y	ENSP00000321744:S65Y	S	-	2	0	HIST1H2BC	26231918	1.000000	0.71417	0.993000	0.49108	0.146000	0.21551	7.708000	0.84633	2.799000	0.96334	0.650000	0.86243	TCT		0.562	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526	
HIST1H2BI	8346	broad.mit.edu	37	6	26273416	26273416	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26273416C>T	ENST00000377733.2	+	1	273	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71F(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						ACGACATTTTCGAGCGCATTG	0.572																																					p.F71F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	6						.						151.0	145.0	147.0					6																	26273416		2203	4300	6503	26381395	SO:0001819	synonymous_variant	8346	exon1			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.213C>T	6.37:g.26273416C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26381395	NM_003525	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000377733.2	37	CCDS4603.1																																																																																				0.572	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525	
BTN2A2	10385	broad.mit.edu	37	6	26388372	26388372	+	Missense_Mutation	SNP	G	G	A	rs144410497	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26388372G>A	ENST00000356709.4	+	4	685	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	BTN2A2_ENST00000352867.2_Missense_Mutation_p.A76T|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A192T|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A192T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	192	Ig-like C2-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A192T(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGTTGTGCCCGCCCTGAAGGA	0.577																																					p.A192T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	6						.						121.0	99.0	107.0					6																	26388372		2203	4300	6503	26496351	SO:0001583	missense	10385	exon4			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.574G>A	6.37:g.26388372G>A	ENSP00000349143:p.Ala192Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26496351	NM_006995	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	12.23	1.876785	0.33162	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.11	-7.03	0.01584	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	1.013840	0.07900	N	0.972524	T	0.35451	0.0932	L	0.51422	1.61	0.09310	N	1	P;B;P;B	0.38711	0.504;0.448;0.643;0.024	B;B;B;B	0.27715	0.082;0.049;0.082;0.036	T	0.14144	-1.0483	10	0.29301	T	0.29	.	1.532	0.02537	0.2028:0.1011:0.2592:0.4368	.	76;192;76;192	B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;BT2A2_HUMAN	T	192;192;76;192;76;192;76	ENSP00000417472:A192T;ENSP00000349143:A192T;ENSP00000337117:A76T;ENSP00000418857:A192T;ENSP00000419226:A76T;ENSP00000399308:A192T;ENSP00000418176:A76T	ENSP00000337117:A76T	A	+	1	0	BTN2A2	26496351	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.064000	0.03461	-1.373000	0.02134	-3.206000	0.00054	GCC		0.577	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1		
BTN2A2	10385	broad.mit.edu	37	6	26390250	26390250	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26390250G>A	ENST00000356709.4	+	5	853	c.742G>A	c.(742-744)Gca>Aca	p.A248T	BTN2A2_ENST00000352867.2_Missense_Mutation_p.A132T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A38T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A248T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A154T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A248T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	248					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A248T(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TATGCCCAGCGCATCTCCCTG	0.493																																					p.A248T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	6						.						152.0	147.0	149.0					6																	26390250		2203	4300	6503	26498229	SO:0001583	missense	10385	exon5			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.742G>A	6.37:g.26390250G>A	ENSP00000349143:p.Ala248Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26498229	NM_006995	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	4.522	0.096864	0.08681	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	3.04	-1.13	0.09775	.	1.303030	0.05757	N	0.604162	T	0.01695	0.0054	N	0.01438	-0.865	0.09310	N	1	B;B;B;B;B;B	0.13594	0.001;0.0;0.008;0.002;0.0;0.001	B;B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0;0.002	T	0.37572	-0.9700	10	0.09084	T	0.74	.	2.8325	0.05504	0.4358:0.2548:0.3094:0.0	.	38;154;132;248;132;248	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	T	248;43;248;132;38;154;43;248;132	ENSP00000417472:A248T;ENSP00000418965:A43T;ENSP00000349143:A248T;ENSP00000337117:A132T;ENSP00000419451:A38T;ENSP00000394241:A154T;ENSP00000417676:A43T;ENSP00000399308:A248T;ENSP00000418176:A132T	ENSP00000337117:A132T	A	+	1	0	BTN2A2	26498229	0.000000	0.05858	0.009000	0.14445	0.181000	0.23173	-0.151000	0.10175	-0.067000	0.12976	-0.483000	0.04790	GCA		0.493	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1		
BTN2A3P	54718	broad.mit.edu	37	6	26431574	26431574	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26431574C>A	ENST00000466808.2	+	0	1522							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.Q498K(1)									CCCACAGAATCAGTTCCCCAG	0.582																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						144.0	119.0	128.0					6																	26431574		2203	4300	6503	26539553			54718	.			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431574C>A		Somatic		Capture	Illumina HiSeq	Phase_I	26539553	.	A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37																																																																																					0.582	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795	
BTN1A1	696	broad.mit.edu	37	6	26509162	26509162	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:26509162C>A	ENST00000244513.6	+	7	1407	c.1341C>A	c.(1339-1341)ttC>ttA	p.F447L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	447	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.F447L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCTATACTTTCTCCAATGTCA	0.507																																					p.F447L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1341A	6						.						80.0	73.0	76.0					6																	26509162		2203	4300	6503	26617141	SO:0001583	missense	696	exon7			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1341C>A	6.37:g.26509162C>A	ENSP00000244513:p.Phe447Leu	Somatic		Capture	Illumina HiSeq	Phase_I	26617141	NM_001732	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142296	0.37825	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.77358	-1.09	5.84	2.13	0.27403	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.099120	0.45606	D	0.000345	D	0.84741	0.5539	M	0.91090	3.175	0.36842	D	0.887453	D	0.76494	0.999	D	0.77557	0.99	D	0.84854	0.0815	10	0.62326	D	0.03	.	8.8762	0.35348	0.0:0.6913:0.0:0.3087	.	447	Q13410	BT1A1_HUMAN	L	447	ENSP00000244513:F447L	ENSP00000244513:F447L	F	+	3	2	BTN1A1	26617141	0.000000	0.05858	0.040000	0.18447	0.035000	0.12851	0.403000	0.20982	0.103000	0.17682	0.655000	0.94253	TTC		0.507	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
HIST1H2BK	85236	broad.mit.edu	37	6	27114413	27114413	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27114413G>T	ENST00000356950.1	-	1	164	c.165C>A	c.(163-165)atC>atA	p.I55I	HIST1H2BK_ENST00000396891.4_Silent_p.I55I|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	55					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I55I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTAGAGGAGATGCCGGTGT	0.582																																					p.I55I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C165A	6						.						109.0	99.0	102.0					6																	27114413		2203	4297	6500	27222392	SO:0001819	synonymous_variant	85236	exon1			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.165C>A	6.37:g.27114413G>T		Somatic		Capture	Illumina HiSeq	Phase_I	27222392	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																				0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
PRSS16	10279	broad.mit.edu	37	6	27216936	27216936	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27216936G>T	ENST00000230582.3	+	4	410	c.395G>T	c.(394-396)aGa>aTa	p.R132I	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	132					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.R132I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGGAACACAGATTTTATGGC	0.592																																					p.R132I	NSCLC(178;1118 2105 17078 23587 44429)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395T	6						.						83.0	86.0	85.0					6																	27216936		2203	4300	6503	27324915	SO:0001583	missense	10279	exon4			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.395G>T	6.37:g.27216936G>T	ENSP00000230582:p.Arg132Ile	Somatic		Capture	Illumina HiSeq	Phase_I	27324915	NM_005865	O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.96|18.96	3.733073|3.733073	0.69189|0.69189	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000230582;ENST00000343467;ENST00000348953	.|T	.|0.47177	.|0.85	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73536|0.73536	0.3599|0.3599	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.997;1.0	.|D;D;D	.|0.97110	.|0.997;0.995;1.0	T|T	0.82483|0.82483	-0.0435|-0.0435	5|10	.|0.87932	.|D	.|0	-32.483|-32.483	14.0762|14.0762	0.64891|0.64891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|23;132;132	.|Q7Z5N6;C9JI59;Q9NQE7	.|.;.;TSSP_HUMAN	H|I	23|132	.|ENSP00000230582:R132I	.|ENSP00000230582:R132I	Q|R	+|+	3|2	2|0	PRSS16|PRSS16	27324915|27324915	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.780000|0.780000	0.44128|0.44128	4.407000|4.407000	0.59754|0.59754	2.249000|2.249000	0.74217|0.74217	0.557000|0.557000	0.71058|0.71058	CAG|AGA		0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
ZNF184	7738	broad.mit.edu	37	6	27419468	27419468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27419468G>A	ENST00000211936.6	-	6	2154	c.1870C>T	c.(1870-1872)Cga>Tga	p.R624*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R624*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R624*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAACAATGTCGAAAGGCTTTA	0.423																																					p.R624X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1870T	6						.						184.0	167.0	173.0					6																	27419468		2203	4300	6503	27527447	SO:0001587	stop_gained	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1870C>T	6.37:g.27419468G>A	ENSP00000211936:p.Arg624*	Somatic		Capture	Illumina HiSeq	Phase_I	27527447	NM_007149	B2R715|O60792|Q8TBA9	Nonsense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.805265	0.97853	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	5.18	3.19	0.36642	.	0.000000	0.41712	D	0.000830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.4415	0.44469	0.0:0.0:0.5239:0.4761	.	.	.	.	X	624;624;540	.	ENSP00000211936:R624X	R	-	1	2	ZNF184	27527447	0.000000	0.05858	0.892000	0.35008	0.994000	0.84299	0.597000	0.24059	1.364000	0.46038	0.591000	0.81541	CGA		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF184	7738	broad.mit.edu	37	6	27440070	27440070	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27440070C>T	ENST00000211936.6	-	2	288	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E2K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E2K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCACTACCTTCCATCTCAGGA	0.527																																					p.E2K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4A	6						.						130.0	97.0	109.0					6																	27440070		2203	4300	6503	27548049	SO:0001583	missense	7738	exon2			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.4G>A	6.37:g.27440070C>T	ENSP00000211936:p.Glu2Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27548049	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168763	0.57584	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.05925	3.37;3.37	4.09	4.09	0.47781	.	0.732373	0.11168	N	0.592384	T	0.01695	0.0054	N	0.17474	0.49	0.32088	N	0.592278	P	0.34522	0.455	B	0.25759	0.063	T	0.45056	-0.9287	10	0.46703	T	0.11	.	12.114	0.53856	0.0:1.0:0.0:0.0	.	2	Q99676	ZN184_HUMAN	K	2	ENSP00000211936:E2K;ENSP00000366636:E2K	ENSP00000211936:E2K	E	-	1	0	ZNF184	27548049	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.753000	0.47524	2.575000	0.86900	0.563000	0.77884	GAA		0.527	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
HIST1H2BL	8340	broad.mit.edu	37	6	27775332	27775332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27775332G>A	ENST00000377401.2	-	1	377	c.353C>T	c.(352-354)gCc>gTc	p.A118V	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	118					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A118V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTTGGTGACGGCCTTGGTGCC	0.567																																					p.A118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	6						.						78.0	81.0	80.0					6																	27775332		2203	4300	6503	27883311	SO:0001583	missense	8340	exon1			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.353C>T	6.37:g.27775332G>A	ENSP00000366618:p.Ala118Val	Somatic		Capture	Illumina HiSeq	Phase_I	27883311	NM_003519	B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564991	0.86439	.	.	ENSG00000185130	ENST00000377401	T	0.48522	0.81	4.35	4.35	0.52113	Histone-fold (2);	0.000000	0.38897	U	0.001537	T	0.77631	0.4159	H	0.97783	4.075	0.38395	D	0.945516	D	0.89917	1.0	D	0.87578	0.998	D	0.87055	0.2149	10	0.87932	D	0	.	16.7577	0.85504	0.0:0.0:1.0:0.0	.	118	Q99880	H2B1L_HUMAN	V	118	ENSP00000366618:A118V	ENSP00000366618:A118V	A	-	2	0	HIST1H2BL	27883311	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	4.987000	0.63857	2.335000	0.79485	0.655000	0.94253	GCC		0.567	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519	
OR2B2	81697	broad.mit.edu	37	6	27879060	27879060	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27879060T>G	ENST00000303324.2	-	1	1114	c.1038A>C	c.(1036-1038)gaA>gaC	p.E346D		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	346						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E346D(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TACAATAGTTTTCTATAGTAA	0.333																																					p.E346D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1038C	6						.						58.0	61.0	60.0					6																	27879060		2203	4298	6501	27987039	SO:0001583	missense	81697	exon1			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.1038A>C	6.37:g.27879060T>G	ENSP00000304419:p.Glu346Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27987039	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	3.587	-0.084497	0.07097	.	.	ENSG00000168131	ENST00000303324	T	0.00892	5.57	1.67	-0.274	0.12910	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.08055	0.003	T	0.31251	-0.9950	9	0.48119	T	0.1	.	6.2153	0.20651	0.0:0.5363:0.0:0.4637	.	346	Q9GZK3	OR2B2_HUMAN	D	346	ENSP00000304419:E346D	ENSP00000304419:E346D	E	-	3	2	OR2B2	27987039	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.683000	0.05179	-0.509000	0.06532	-0.642000	0.03964	GAA		0.333	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
OR2B6	26212	broad.mit.edu	37	6	27925301	27925301	+	Missense_Mutation	SNP	C	C	T	rs189130562		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:27925301C>T	ENST00000244623.1	+	1	283	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R95C(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATCAGTTATCGTGGCTGTGT	0.423																																					p.R95C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	6						.	C	CYS/ARG	1,4405		0,1,2202	74.0	72.0	72.0		283	2.8	0.1	6		72	0,8598		0,0,4299	no	missense	OR2B6	NM_012367.1	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	95/314	27925301	1,13003	2203	4299	6502	28033280	SO:0001583	missense	26212	exon1			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.283C>T	6.37:g.27925301C>T	ENSP00000244623:p.Arg95Cys	Somatic		Capture	Illumina HiSeq	Phase_I	28033280	NM_012367	O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	2.380	-0.342288	0.05243	2.27E-4	0.0	ENSG00000124657	ENST00000244623	T	0.00406	7.55	3.68	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.225951	0.21401	U	0.075158	T	0.00109	0.0003	N	0.21508	0.67	0.09310	N	1	B	0.23377	0.084	B	0.11329	0.006	T	0.37220	-0.9715	10	0.66056	D	0.02	.	11.5989	0.50990	0.0:0.1835:0.8164:0.0	.	95	P58173	OR2B6_HUMAN	C	95	ENSP00000244623:R95C	ENSP00000244623:R95C	R	+	1	0	OR2B6	28033280	0.000000	0.05858	0.128000	0.21923	0.040000	0.13550	-0.814000	0.04486	0.821000	0.34540	-0.226000	0.12346	CGT		0.423	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1		
ZSCAN31	64288	broad.mit.edu	37	6	28297436	28297436	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28297436C>T	ENST00000414429.1	-	6	928	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.D9N|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.D9N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.D9N|ZSCAN31_ENST00000481934.1_5'Flank			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	9					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)	p.D9N(1)									ATCTTAAGATCGTACTGTTCC	0.418																																					p.D9N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	6						.						79.0	76.0	77.0					6																	28297436		2203	4300	6503	28405415	SO:0001583	missense	64288	exon6				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.25G>A	6.37:g.28297436C>T	ENSP00000390076:p.Asp9Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28405415	NM_145909	Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024505	0.19433	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036;ENST00000444081;ENST00000439628	T;T;T;T;T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;4.4;4.34;4.11;3.76;3.65;3.53	3.61	1.8	0.24995	.	.	.	.	.	T	0.02533	0.0077	M	0.62723	1.935	0.09310	N	1	B	0.20988	0.05	B	0.12156	0.007	T	0.38286	-0.9668	9	0.59425	D	0.04	.	5.1415	0.14961	0.0:0.7318:0.0:0.2682	.	9	Q96LW9	ZN323_HUMAN	N	9	ENSP00000380050:D9N;ENSP00000413705:D9N;ENSP00000390076:D9N;ENSP00000345339:D9N;ENSP00000389479:D9N;ENSP00000412519:D9N;ENSP00000416108:D9N;ENSP00000406376:D9N;ENSP00000411033:D9N;ENSP00000416225:D9N	ENSP00000345339:D9N	D	-	1	0	ZNF323	28405415	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.479000	0.22228	0.862000	0.35528	0.563000	0.77884	GAT		0.418	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899	
GPX6	257202	broad.mit.edu	37	6	28472228	28472228	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28472228G>T	ENST00000474923.1	-	4	450	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.L169L			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	204			E -> D (in dbSNP:rs35394555). {ECO:0000269|Ref.2}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.L169L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCTCCCAGAAGAGTTGGCTTG	0.473																																					p.L169L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507A	6						.						58.0	59.0	58.0					6																	28472228		1859	4107	5966	28580207	SO:0001583	missense	257202	exon5				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.407C>A	6.37:g.28472228G>T	ENSP00000417364:p.Ser136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28580207	NM_182701	Q4PJ17	Silent	SNP	ENST00000474923.1	37		.	.	.	.	.	.	.	.	.	.	G	17.25	3.342094	0.61073	.	.	ENSG00000198704	ENST00000474923	T	0.12672	2.66	4.31	2.48	0.30137	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01998	-1.1232	6	0.72032	D	0.01	.	7.0118	0.24867	0.0946:0.0:0.7324:0.173	.	.	.	.	Y	136	ENSP00000417364:S136Y	ENSP00000417364:S136Y	S	-	2	0	GPX6	28580207	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	0.507000	0.22675	0.705000	0.31890	0.591000	0.81541	TCT		0.473	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5		
GPX6	257202	broad.mit.edu	37	6	28474207	28474207	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28474207C>A	ENST00000474923.1	-	3	285		c.e3-1		GPX6_ENST00000483058.1_Splice_Site|GPX6_ENST00000361902.1_Splice_Site			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)						response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.?(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCATTCAGTTCTGTAAGTGGA	0.448																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						70.0	76.0	74.0					6																	28474207		2080	4253	6333	28582186	SO:0001630	splice_region_variant	257202	.				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.242-1G>T	6.37:g.28474207C>A		Somatic		Capture	Illumina HiSeq	Phase_I	28582186	.	Q4PJ17	Splice_Site	SNP	ENST00000474923.1	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939240	0.73557	.	.	ENSG00000198704	ENST00000361902;ENST00000474923	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6776	0.56903	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPX6	28582186	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.612000	0.74187	2.687000	0.91594	0.655000	0.94253	.		0.448	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5		Intron
ZBED9	114821	broad.mit.edu	37	6	28540143	28540143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28540143G>A	ENST00000452236.2	-	4	4140	c.3523C>T	c.(3523-3525)Cga>Tga	p.R1175*		NM_052923.1	NP_443155.1												p.R1175*(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ataacttttcgcagatgtgca	0.294																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	6						.						36.0	36.0	36.0					6																	28540143		2196	4291	6487	28648122	SO:0001587	stop_gained	114821	.																														ENST00000452236.2:c.3523C>T	6.37:g.28540143G>A	ENSP00000395259:p.Arg1175*	Somatic		Capture	Illumina HiSeq	Phase_I	28648122	.		Nonsense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	40	8.094872	0.98651	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.53	0.62	0.17637	.	1.268130	0.06509	U	0.737626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.9494	0.24536	0.0:0.0:0.5046:0.4954	.	.	.	.	X	1175	.	ENSP00000395259:R1175X	R	-	1	2	SCAND3	28648122	0.002000	0.14202	0.001000	0.08648	0.113000	0.19764	0.142000	0.16096	0.127000	0.18452	-0.169000	0.13324	CGA		0.294	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28540283	28540283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28540283G>T	ENST00000452236.2	-	4	4000	c.3383C>A	c.(3382-3384)tCa>tAa	p.S1128*		NM_052923.1	NP_443155.1												p.S1128*(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atctgccattgaaaaataagt	0.313																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	6						.						72.0	75.0	74.0					6																	28540283		2183	4298	6481	28648262	SO:0001587	stop_gained	114821	.																														ENST00000452236.2:c.3383C>A	6.37:g.28540283G>T	ENSP00000395259:p.Ser1128*	Somatic		Capture	Illumina HiSeq	Phase_I	28648262	.		Nonsense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	44	10.973883	0.99497	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.53	2.53	0.30540	.	3.718240	0.01193	N	0.007389	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7013	0.34327	0.0:0.0:1.0:0.0	.	.	.	.	X	1128	.	ENSP00000395259:S1128X	S	-	2	0	SCAND3	28648262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.382000	0.44345	1.719000	0.51432	0.655000	0.94253	TCA		0.313	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28541036	28541036	+	Missense_Mutation	SNP	C	C	A	rs572680396		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28541036C>A	ENST00000452236.2	-	4	3247	c.2630G>T	c.(2629-2631)cGt>cTt	p.R877L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.R877L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttcctgaatacgtcgagctat	0.388																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						167.0	161.0	163.0					6																	28541036		2203	4299	6502	28649015	SO:0001583	missense	114821	.																														ENST00000452236.2:c.2630G>T	6.37:g.28541036C>A	ENSP00000395259:p.Arg877Leu	Somatic		Capture	Illumina HiSeq	Phase_I	28649015	.		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799755	0.50208	.	.	ENSG00000232040	ENST00000452236	T	0.02050	4.48	1.9	1.9	0.25705	.	0.411149	0.18312	U	0.145082	T	0.01730	0.0055	M	0.87180	2.865	0.27179	N	0.960727	B	0.25667	0.131	B	0.19666	0.026	T	0.24584	-1.0156	10	0.87932	D	0	.	7.3495	0.26682	0.0:1.0:0.0:0.0	.	877	Q6R2W3	SCND3_HUMAN	L	877	ENSP00000395259:R877L	ENSP00000395259:R877L	R	-	2	0	SCAND3	28649015	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	1.764000	0.38471	1.383000	0.46405	0.561000	0.74099	CGT		0.388	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28543361	28543361	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28543361C>A	ENST00000452236.2	-	3	1738	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.R374I(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TACTTGGCATCTTGAACTAAC	0.348																																					p.R374I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121T	6						.						114.0	116.0	116.0					6																	28543361		2203	4300	6503	28651340	SO:0001583	missense	114821	exon3																														ENST00000452236.2:c.1121G>T	6.37:g.28543361C>A	ENSP00000395259:p.Arg374Ile	Somatic		Capture	Illumina HiSeq	Phase_I	28651340	NM_052923		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313811	0.60414	.	.	ENSG00000232040	ENST00000452236	T	0.01767	4.65	3.45	2.58	0.30949	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.01029	0.0034	L	0.54323	1.7	0.37968	D	0.933208	P	0.45348	0.856	B	0.41271	0.352	T	0.61242	-0.7102	9	0.87932	D	0	.	6.5921	0.22651	0.0:0.8662:0.0:0.1338	.	374	Q6R2W3	SCND3_HUMAN	I	374	ENSP00000395259:R374I	ENSP00000395259:R374I	R	-	2	0	SCAND3	28651340	0.998000	0.40836	0.988000	0.46212	0.999000	0.98932	0.849000	0.27723	0.793000	0.33875	0.655000	0.94253	AGA		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZNF311	282890	broad.mit.edu	37	6	28963394	28963394	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28963394C>A	ENST00000377179.3	-	7	1897	c.1385G>T	c.(1384-1386)aGa>aTa	p.R462I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	462					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)	p.R462I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGGATCCTTCTGTGTTTGGT	0.488																																					p.R462I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1385T	6						.						188.0	151.0	164.0					6																	28963394		1511	2709	4220	29071373	SO:0001583	missense	282890	exon7			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1385G>T	6.37:g.28963394C>A	ENSP00000366384:p.Arg462Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29071373	NM_001010877	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871090	0.33069	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.15603	2.41	3.69	1.84	0.25277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.21142	0.635	0.09310	N	1	B	0.33413	0.411	B	0.34652	0.187	T	0.35375	-0.9791	9	0.66056	D	0.02	-4.3081	7.0209	0.24914	0.0:0.7625:0.0:0.2375	.	462	Q5JNZ3	ZN311_HUMAN	I	462;370	ENSP00000366384:R462I	ENSP00000366384:R462I	R	-	2	0	ZNF311	29071373	0.000000	0.05858	0.003000	0.11579	0.455000	0.32408	0.222000	0.17699	0.830000	0.34757	0.585000	0.79938	AGA		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
ZNF311	282890	broad.mit.edu	37	6	28963847	28963847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:28963847G>A	ENST00000377179.3	-	7	1444	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	311					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)	p.A311V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTGTTGAAAGCCTTCCCACA	0.488																																					p.A311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	6						.						81.0	78.0	79.0					6																	28963847		1511	2709	4220	29071826	SO:0001583	missense	282890	exon7			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.932C>T	6.37:g.28963847G>A	ENSP00000366384:p.Ala311Val	Somatic		Capture	Illumina HiSeq	Phase_I	29071826	NM_001010877	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477942	0.26511	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.19105	2.17	3.55	-1.19	0.09585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.17433	0.018	T	0.42599	-0.9442	9	0.45353	T	0.12	-2.7727	3.2398	0.06777	0.1033:0.3105:0.4284:0.1578	.	311	Q5JNZ3	ZN311_HUMAN	V	311;219	ENSP00000366384:A311V	ENSP00000366384:A311V	A	-	2	0	ZNF311	29071826	0.000000	0.05858	0.096000	0.21009	0.844000	0.47949	-0.689000	0.05144	-0.051000	0.13334	0.484000	0.47621	GCT		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
OR2W1	26692	broad.mit.edu	37	6	29012751	29012751	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29012751A>C	ENST00000377175.1	-	1	266	c.202T>G	c.(202-204)Ttc>Gtc	p.F68V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F68V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATCTAGGAAAGATAAATTT	0.423																																					p.F68V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T202G	6						.						72.0	75.0	74.0					6																	29012751		1511	2708	4219	29120730	SO:0001583	missense	26692	exon1			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.202T>G	6.37:g.29012751A>C	ENSP00000366380:p.Phe68Val	Somatic		Capture	Illumina HiSeq	Phase_I	29120730	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760749	0.31137	.	.	ENSG00000204704	ENST00000377175	T	0.00995	5.46	4.78	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.243724	0.29480	N	0.012028	T	0.00608	0.0020	M	0.80422	2.495	0.09310	N	1	B	0.26602	0.154	B	0.23419	0.046	T	0.45977	-0.9224	10	0.66056	D	0.02	.	7.7074	0.28659	0.7413:0.0:0.2587:0.0	.	68	Q9Y3N9	OR2W1_HUMAN	V	68	ENSP00000366380:F68V	ENSP00000366380:F68V	F	-	1	0	OR2W1	29120730	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	-0.260000	0.08708	0.195000	0.20347	0.477000	0.44152	TTC		0.423	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR2W1	26692	broad.mit.edu	37	6	29012853	29012853	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29012853A>C	ENST00000377175.1	-	1	164	c.100T>G	c.(100-102)Ttc>Gtc	p.F34V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F34V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATTAAGTAGAAGATGGCGACA	0.393																																					p.F34V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T100G	6						.						118.0	127.0	124.0					6																	29012853		1499	2708	4207	29120832	SO:0001583	missense	26692	exon1			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.100T>G	6.37:g.29012853A>C	ENSP00000366380:p.Phe34Val	Somatic		Capture	Illumina HiSeq	Phase_I	29120832	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569735	0.28003	.	.	ENSG00000204704	ENST00000377175	T	0.00631	6.09	4.45	3.28	0.37604	.	0.000000	0.53938	D	0.000059	T	0.00608	0.0020	L	0.31664	0.95	0.39060	D	0.960503	D	0.89917	1.0	D	0.85130	0.997	T	0.76424	-0.2964	10	0.30078	T	0.28	.	6.1243	0.20170	0.8842:0.0:0.1158:0.0	.	34	Q9Y3N9	OR2W1_HUMAN	V	34	ENSP00000366380:F34V	ENSP00000366380:F34V	F	-	1	0	OR2W1	29120832	0.000000	0.05858	0.951000	0.38953	0.108000	0.19459	-1.116000	0.03286	1.762000	0.52044	0.477000	0.44152	TTC		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR2J3	442186	broad.mit.edu	37	6	29080574	29080574	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29080574G>A	ENST00000377169.1	+	1	907	c.907G>A	c.(907-909)Gca>Aca	p.A303T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A303T(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTAAGAGGGGCAGTGAAGAG	0.398																																					p.A303T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G907A	6						.						57.0	60.0	59.0					6																	29080574		1234	2576	3810	29188553	SO:0001583	missense	442186	exon1				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.907G>A	6.37:g.29080574G>A	ENSP00000366374:p.Ala303Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29188553	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508589	0.27036	.	.	ENSG00000204701	ENST00000377169	T	0.42131	0.98	3.08	3.08	0.35506	.	.	.	.	.	T	0.51500	0.1678	M	0.90369	3.11	0.22835	N	0.998671	D	0.59357	0.985	P	0.55871	0.786	T	0.42949	-0.9421	9	0.87932	D	0	.	10.8067	0.46522	0.0:0.0:0.8103:0.1897	.	303	O76001	OR2J3_HUMAN	T	303	ENSP00000366374:A303T	ENSP00000366374:A303T	A	+	1	0	OR2J3	29188553	0.005000	0.15991	0.760000	0.31359	0.056000	0.15407	1.270000	0.33086	1.715000	0.51383	0.491000	0.48974	GCA		0.398	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231507	29231507	+	lincRNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29231507G>T	ENST00000441381.1	+	0	79																		p.S117*(1)									TGGGTCATATGACATCACAGC	0.453																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	6						.						197.0	186.0	190.0					6																	29231507		1995	4198	6193	29339486			0	.																															6.37:g.29231507G>T		Somatic		Capture	Illumina HiSeq	Phase_I	29339486	.		IGR	SNP	ENST00000441381.1	37																																																																																					0.453	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1		
OR14J1	442191	broad.mit.edu	37	6	29275091	29275091	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29275091T>G	ENST00000377160.2	+	1	689	c.625T>G	c.(625-627)Ttg>Gtg	p.L209V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L209V(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATTTATCTGTTTGATCTCCAT	0.468																																					p.L209V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T625G	6						.						160.0	165.0	163.0					6																	29275091		1511	2709	4220	29383070	SO:0001583	missense	442191	exon1				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.625T>G	6.37:g.29275091T>G	ENSP00000366365:p.Leu209Val	Somatic		Capture	Illumina HiSeq	Phase_I	29383070	NM_030946	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996916	0.35226	.	.	ENSG00000204695	ENST00000377160	T	0.44482	0.92	4.58	0.827	0.18835	GPCR, rhodopsin-like superfamily (1);	0.193287	0.25180	N	0.032530	T	0.16428	0.0395	L	0.28649	0.875	0.09310	N	1	P	0.51653	0.947	P	0.46718	0.525	T	0.10941	-1.0608	10	0.45353	T	0.12	.	8.377	0.32449	0.0:0.2369:0.0:0.7631	.	209	Q9UGF5	O14J1_HUMAN	V	209	ENSP00000366365:L209V	ENSP00000366365:L209V	L	+	1	2	OR14J1	29383070	0.000000	0.05858	0.004000	0.12327	0.472000	0.32918	-1.160000	0.03147	0.047000	0.15862	0.528000	0.53228	TTG		0.468	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2		
OR14J1	442191	broad.mit.edu	37	6	29275266	29275266	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29275266C>A	ENST00000377160.2	+	1	864	c.800C>A	c.(799-801)aCt>aAt	p.T267N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267N(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCCTCATCGACTGTGGACCTT	0.458																																					p.T267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800A	6						.						160.0	150.0	154.0					6																	29275266		1511	2709	4220	29383245	SO:0001583	missense	442191	exon1				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.800C>A	6.37:g.29275266C>A	ENSP00000366365:p.Thr267Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29383245	NM_030946	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909961	0.33721	.	.	ENSG00000204695	ENST00000377160	T	0.00091	8.74	4.86	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.825737	0.10091	N	0.717218	T	0.00039	0.0001	N	0.17312	0.475	0.09310	N	1	P	0.38455	0.632	B	0.37989	0.262	T	0.00000	-1.4086	10	0.18710	T	0.47	.	7.2345	0.26062	0.2555:0.6512:0.0:0.0933	.	267	Q9UGF5	O14J1_HUMAN	N	267	ENSP00000366365:T267N	ENSP00000366365:T267N	T	+	2	0	OR14J1	29383245	0.000000	0.05858	0.002000	0.10522	0.048000	0.14542	-0.453000	0.06778	1.268000	0.44264	0.650000	0.86243	ACT		0.458	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2		
OR12D3	81797	broad.mit.edu	37	6	29342156	29342156	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29342156G>T	ENST00000396806.3	-	1	912	c.909C>A	c.(907-909)atC>atA	p.I303I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I303I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TCCTACCAAAGATTTTCTTCA	0.418																																					p.I303I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909A	6						.						152.0	160.0	157.0					6																	29342156		1511	2709	4220	29450135	SO:0001819	synonymous_variant	81797	exon1				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.909C>A	6.37:g.29342156G>T		Somatic		Capture	Illumina HiSeq	Phase_I	29450135	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Silent	SNP	ENST00000396806.3	37	CCDS4658.1																																																																																				0.418	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
OR2H1	26716	broad.mit.edu	37	6	29430366	29430366	+	Missense_Mutation	SNP	C	C	A	rs570115191		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29430366C>A	ENST00000377136.1	+	4	1285	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	OR2H1_ENST00000396792.2_Missense_Mutation_p.L274I|OR2H1_ENST00000377133.1_Missense_Mutation_p.L274I|OR2H1_ENST00000442615.1_Missense_Mutation_p.L274I|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.L274I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L274I(1)		large_intestine(5)|lung(12)	17						GTTCTTTGGTCTCTTCTATGC	0.512																																					p.L274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820A	6						.						107.0	110.0	109.0					6																	29430366		1511	2709	4220	29538345	SO:0001583	missense	26716	exon3			AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.820C>A	6.37:g.29430366C>A	ENSP00000366340:p.Leu274Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29538345	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772511	0.31411	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00091	8.74;8.74;8.74;8.74;8.74	3.09	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002497	T	0.00109	0.0003	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22591	-1.0212	10	0.72032	D	0.01	.	3.4821	0.07606	0.1747:0.5527:0.1702:0.1024	.	274	Q9GZK4	OR2H1_HUMAN	I	274	ENSP00000366340:L274I;ENSP00000366337:L274I;ENSP00000393254:L274I;ENSP00000366336:L274I;ENSP00000380010:L274I	ENSP00000366336:L274I	L	+	1	0	OR2H1	29538345	0.000000	0.05858	0.965000	0.40720	0.350000	0.29205	-0.633000	0.05483	0.829000	0.34733	0.603000	0.83216	CTC		0.512	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
OR2H2	7932	broad.mit.edu	37	6	29556271	29556271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29556271C>T	ENST00000383640.2	+	1	589	c.550C>T	c.(550-552)Cga>Tga	p.R184*	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	184					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R184*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGCTCTAATTCGACTCTCCTG	0.547																																					p.R184X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C550T	6						.						123.0	118.0	120.0					6																	29556271		1511	2708	4219	29664250	SO:0001587	stop_gained	7932	exon1				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.550C>T	6.37:g.29556271C>T	ENSP00000373136:p.Arg184*	Somatic		Capture	Illumina HiSeq	Phase_I	29664250	NM_007160	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Nonsense_Mutation	SNP	ENST00000383640.2	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991457	0.74703	.	.	ENSG00000204657	ENST00000383640	.	.	.	4.29	1.08	0.20341	.	0.600012	0.12835	N	0.435288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.2199	0.25981	0.4994:0.4173:0.0:0.0833	.	.	.	.	X	184	.	ENSP00000373136:R184X	R	+	1	2	OR2H2	29664250	0.000000	0.05858	0.407000	0.26434	0.955000	0.61496	-0.934000	0.03955	-0.031000	0.13781	0.585000	0.79938	CGA		0.547	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2		
OR2H2	7932	broad.mit.edu	37	6	29556431	29556431	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29556431G>T	ENST00000383640.2	+	1	749	c.710G>T	c.(709-711)gGg>gTg	p.G237V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	237					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAGCTTTTGGGACCTGCTCC	0.532																																					p.G237V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710T	6						.						111.0	105.0	107.0					6																	29556431		1511	2709	4220	29664410	SO:0001583	missense	7932	exon1				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.710G>T	6.37:g.29556431G>T	ENSP00000373136:p.Gly237Val	Somatic		Capture	Illumina HiSeq	Phase_I	29664410	NM_007160	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665065	0.29604	.	.	ENSG00000204657	ENST00000383640	T	0.00107	8.72	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000883	T	0.00178	0.0005	M	0.66378	2.025	0.09310	N	0.999997	D	0.76494	0.999	D	0.75484	0.986	T	0.26608	-1.0098	10	0.72032	D	0.01	.	10.7351	0.46120	0.0:0.3259:0.674:0.0	.	237	O95918	OR2H2_HUMAN	V	237	ENSP00000373136:G237V	ENSP00000373136:G237V	G	+	2	0	OR2H2	29664410	0.002000	0.14202	0.201000	0.23476	0.684000	0.39900	0.817000	0.27281	2.184000	0.69523	0.585000	0.79938	GGG		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2		
GABBR1	2550	broad.mit.edu	37	6	29581010	29581010	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29581010T>G	ENST00000377034.4	-	12	1902				GABBR1_ENST00000355973.3_Intron|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000377012.4_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGAAGGAAGTTTTAACTCACA	0.463																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						106.0	120.0	115.0					6																	29581010		1511	2708	4219	29688989	SO:0001627	intron_variant	2550	.			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1566+9A>C	6.37:g.29581010T>G		Somatic		Capture	Illumina HiSeq	Phase_I	29688989	.	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Intron	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.463	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
GABBR1	2550	broad.mit.edu	37	6	29581254	29581254	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29581254C>T	ENST00000377034.4	-	12	1667	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	GABBR1_ENST00000355973.3_Silent_p.Q327Q|GABBR1_ENST00000376977.3_Silent_p.Q444Q|GABBR1_ENST00000377016.4_Silent_p.Q382Q|GABBR1_ENST00000377012.4_Silent_p.Q327Q	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	444					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.Q444Q(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCACAAATTCCTGGGATGTCT	0.502																																					p.Q382Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1146A	6						.						108.0	119.0	115.0					6																	29581254		1511	2709	4220	29689233	SO:0001819	synonymous_variant	2550	exon11			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1332G>A	6.37:g.29581254C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29689233	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.502	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29633971C>T	ENST00000376917.3	+	3	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557																																					p.A160V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	6						.						296.0	249.0	266.0					6																	29633971		1511	2709	4220	29741950	SO:0001583	missense	4340	exon3				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.479C>T	6.37:g.29633971C>T	ENSP00000366115:p.Ala160Val	Somatic		Capture	Illumina HiSeq	Phase_I	29741950	NM_002433	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	MOG	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
MOG	4340	broad.mit.edu	37	6	29638506	29638506	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29638506C>T	ENST00000376917.3	+	7	959				MOG_ENST00000376891.4_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000376894.4_Silent_p.F246F|MOG_ENST00000376902.3_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TACGTAAGTTCTCTTCTCTCT	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						54.0	49.0	51.0					6																	29638506		1511	2709	4220	29746485	SO:0001627	intron_variant	4340	.				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.730+8C>T	6.37:g.29638506C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29746485	.	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.433	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
MOG	4340	broad.mit.edu	37	6	29640583	29640583	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29640583C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Nonsense_Mutation_p.W415*|ZFP57_ENST00000488757.1_Nonsense_Mutation_p.W435*|ZFP57_ENST00000376883.1_Nonsense_Mutation_p.W415*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W415*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTTCTGCTTCCAGTGGGTCT	0.547																																					p.W435X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1305A	6						.						147.0	152.0	150.0					6																	29640583		1250	2572	3822	29748562	SO:0001628	intergenic_variant	346171	exon4				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640583C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29748562	NM_001109809	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	38	7.162483	0.98107	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	.	.	.	3.93	2.12	0.27331	.	0.654170	0.12400	N	0.472221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.9368	5.652	0.17622	0.0:0.7526:0.0:0.2474	.	.	.	.	X	435;415;415	.	ENSP00000366078:W415X	W	-	3	0	ZFP57	29748562	0.002000	0.14202	0.999000	0.59377	0.947000	0.59692	0.627000	0.24506	0.998000	0.38996	0.462000	0.41574	TGG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
HLA-G	3135	broad.mit.edu	37	6	29796591	29796591	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:29796591C>T	ENST00000360323.6	+	3	639	c.615C>T	c.(613-615)cgC>cgT	p.R205R	HLA-G_ENST00000428701.1_Silent_p.R205R|HLA-G_ENST00000376828.2_Silent_p.R210R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	205	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R205R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGCTGCAGCGCGCGGGTACCA	0.602																																					p.R205R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615T	6						.						62.0	56.0	58.0					6																	29796591		1511	2709	4220	29904570	SO:0001819	synonymous_variant	3135	exon4				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.615C>T	6.37:g.29796591C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29904570	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				0.602	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
FLOT1	10211	broad.mit.edu	37	6	30698688	30698688	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:30698688A>G	ENST00000376389.3	-	9	1126				FLOT1_ENST00000456573.2_Intron	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CAGGGAGGGGACATTTACTTC	0.622																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						59.0	62.0	61.0					6																	30698688		2193	4293	6486	30806667	SO:0001627	intron_variant	10211	.			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.905+7T>C	6.37:g.30698688A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30806667	.	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Intron	SNP	ENST00000376389.3	37	CCDS4688.1																																																																																				0.622	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2		
IER3	8870	broad.mit.edu	37	6	30709076	30709076	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:30709076G>T	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000376389.3_Missense_Mutation_p.A82E|FLOT1_ENST00000456573.2_Intron|FLOT1_ENST00000470643.1_5'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A82E(1)		NS(1)	1						ACAGGCGGCCGCCAACATCTC	0.562																																					p.A82E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C245A	6						.						109.0	124.0	118.0					6																	30709076		1510	2708	4218	30817055	SO:0001628	intergenic_variant	10211	exon5			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30709076G>T		Somatic		Capture	Illumina HiSeq	Phase_I	30817055	NM_005803	Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906072	0.72868	.	.	ENSG00000137312	ENST00000376389;ENST00000413165;ENST00000438162;ENST00000445853;ENST00000416018;ENST00000454845	T;D;T;D;D;D	0.94862	1.36;-3.2;1.36;-3.54;-3.22;-3.54	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.93661	0.7975	L	0.60957	1.885	0.80722	D	1	P	0.50943	0.94	P	0.55303	0.773	D	0.91629	0.5317	10	0.20519	T	0.43	-15.6709	15.6795	0.77357	0.0:0.0:1.0:0.0	.	82	O75955	FLOT1_HUMAN	E	82;19;82;82;66;82	ENSP00000365569:A82E;ENSP00000395333:A19E;ENSP00000400615:A82E;ENSP00000398834:A82E;ENSP00000412058:A66E;ENSP00000391341:A82E	ENSP00000365569:A82E	A	-	2	0	FLOT1	30817055	1.000000	0.71417	0.953000	0.39169	0.750000	0.42670	7.652000	0.83633	2.562000	0.86427	0.655000	0.94253	GCG		0.562	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2		
VARS2	57176	broad.mit.edu	37	6	30883830	30883830	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:30883830T>C	ENST00000321897.5	+	5	1205				VARS2_ENST00000542001.1_Intron|VARS2_ENST00000416670.2_Intron|VARS2_ENST00000541562.1_Intron			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CACAAGTATGTCTTTTGTTAC	0.498																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						226.0	203.0	211.0					6																	30883830		2203	4300	6503	30991809	SO:0001627	intron_variant	57176	.			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.573+6T>C	6.37:g.30883830T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30991809	.	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Intron	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																				0.498	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
DPCR1	135656	broad.mit.edu	37	6	30919912	30919912	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:30919912C>T	ENST00000462446.1	+	2	3699	c.3671C>T	c.(3670-3672)gCc>gTc	p.A1224V	DPCR1_ENST00000304311.2_Missense_Mutation_p.A66V|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	348						integral component of membrane (GO:0016021)		p.A66V(1)|p.A348V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACCATAAAAGCCCCAGTAAAG	0.453																																					p.A1224V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3671T	6						.						132.0	134.0	134.0					6																	30919912		2203	4300	6503	31027891	SO:0001583	missense	135656	exon2			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3671C>T	6.37:g.30919912C>T	ENSP00000417182:p.Ala1224Val	Somatic		Capture	Illumina HiSeq	Phase_I	31027891	NM_080870	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635797	0.47049	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.24908	1.85;1.83	2.88	-1.57	0.08506	.	.	.	.	.	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	D	0.56746	0.977	P	0.50860	0.652	T	0.12066	-1.0562	9	0.14252	T	0.57	5.2046	4.317	0.10998	0.0:0.275:0.3609:0.3641	.	1224	E9PEI6	.	V	1224;348;66	ENSP00000417182:A1224V;ENSP00000305948:A66V	ENSP00000305948:A66V	A	+	2	0	DPCR1	31027891	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.780000	0.01775	-0.590000	0.05866	-0.397000	0.06425	GCC		0.453	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
CCHCR1	54535	broad.mit.edu	37	6	31125193	31125193	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31125193C>T	ENST00000376266.5	-	2	72				CCHCR1_ENST00000480060.1_Intron|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396268.3_Missense_Mutation_p.S62N|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S62N|CCHCR1_ENST00000396263.2_Intron|TCF19_ENST00000376255.4_5'Flank	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S62N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GTCCCTGCTGCTCCTGGCCAG	0.552																																					p.S62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	6						.						85.0	97.0	93.0					6																	31125193		1301	2583	3884	31233172	SO:0001627	intron_variant	54535	exon1			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.51-327G>A	6.37:g.31125193C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31233172	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491098	0.44249	.	.	ENSG00000204536	ENST00000396268;ENST00000451521;ENST00000426967	T;T;T	0.29917	3.65;3.25;1.55	5.31	-4.07	0.03975	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	P;B	0.43633	0.813;0.0	B;B	0.40410	0.328;0.001	T	0.21759	-1.0236	9	0.34782	T	0.22	.	7.3809	0.26856	0.0:0.2311:0.4297:0.3392	.	62;62	E9PE84;Q8TD31-2	.;.	N	62	ENSP00000379566:S62N;ENSP00000401039:S62N;ENSP00000402432:S62N	ENSP00000379566:S62N	S	-	2	0	CCHCR1	31233172	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.146000	0.10250	-0.597000	0.05813	-0.152000	0.13540	AGC		0.552	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
HCG27	253018	broad.mit.edu	37	6	31170552	31170552	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31170552C>T	ENST00000383331.4	+	2	527	c.527C>T	c.(526-528)gCa>gTa	p.A176V	XXbac-BPG299F13.14_ENST00000606909.1_lincRNA|HCG27_ENST00000415276.1_3'UTR					HLA complex group 27 (non-protein coding)																		ACCCTCTGAGCACTCACACAT	0.567																																					.												.	.	0			.	6						.						202.0	221.0	214.0					6																	31170552		1277	2570	3847	31278531	SO:0001583	missense	253018	.			AK097442		6p21.3	2012-10-16	2011-08-31		ENSG00000206344	ENSG00000206344		"""Long non-coding RNAs"""	27366	non-coding RNA	RNA, long non-coding			"""HLA complex group 27"""			12477932	Standard	NR_026791		Approved	bPG299F13.9, bCX101P6.9, bQB115I13.2, FLJ40123	uc011dni.3		OTTHUMG00000031248	ENST00000383331.4:c.527C>T	6.37:g.31170552C>T	ENSP00000453364:p.Ala176Val	Somatic		Capture	Illumina HiSeq	Phase_I	31278531	.		Silent	SNP	ENST00000383331.4	37																																																																																					0.567	HCG27-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257970.2	NR_026791	
TNF	7124	broad.mit.edu	37	6	31545089	31545089	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31545089C>T	ENST00000449264.2	+	4	652	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)	p.I159I(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TCAGCCGCATCGCCGTCTCCT	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.I159I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	6						.						131.0	91.0	105.0					6																	31545089		1511	2709	4220	31653068	SO:0001819	synonymous_variant	7124	exon4	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.477C>T	6.37:g.31545089C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31653068	NM_000594	O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	CCDS4702.1																																																																																				0.627	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2		
BAG6	7917	broad.mit.edu	37	6	31608918	31608918	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31608918T>C	ENST00000375964.6	-	19	2973	c.2660A>G	c.(2659-2661)cAg>cGg	p.Q887R	BAG6_ENST00000362049.6_Missense_Mutation_p.Q881R|BAG6_ENST00000404765.2_Missense_Mutation_p.Q917R|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.Q881R|BAG6_ENST00000375976.4_Missense_Mutation_p.Q881R|BAG6_ENST00000439687.2_Missense_Mutation_p.Q755R	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	887					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.Q881R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTCCATCTGCTGTCCCCCCAA	0.517																																					p.Q881R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2642G	6						.						131.0	143.0	139.0					6																	31608918		1511	2709	4220	31716897	SO:0001583	missense	7917	exon19			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2660A>G	6.37:g.31608918T>C	ENSP00000365131:p.Gln887Arg	Somatic		Capture	Illumina HiSeq	Phase_I	31716897	NM_001098534	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.303251|4.303251	0.81136|0.81136	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049|ENST00000441793	T;T;T;T;T;T|.	0.50001|.	1.43;1.42;1.43;1.43;0.76;1.42|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.222459|.	0.46145|.	D|.	0.000316|.	T|T	0.33059|0.33059	0.0850|0.0850	N|N	0.22421|0.22421	0.69|0.69	0.36472|0.36472	D|D	0.867298|0.867298	P;P;D;D|.	0.59357|.	0.877;0.955;0.974;0.985|.	B;P;P;P|.	0.55871|.	0.32;0.636;0.543;0.786|.	T|T	0.27262|0.27262	-1.0079|-1.0079	10|5	0.46703|.	T|.	0.11|.	.|.	14.6568|14.6568	0.68838|0.68838	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	755;881;887;881|.	E7EMZ4;F8VXY4;P46379;P46379-2|.	.;.;BAG6_HUMAN;.|.	R|G	881;887;881;917;755;881|30	ENSP00000365143:Q881R;ENSP00000365131:Q887R;ENSP00000211379:Q881R;ENSP00000384494:Q917R;ENSP00000402856:Q755R;ENSP00000354875:Q881R|.	ENSP00000211379:Q881R|.	Q|S	-|-	2|1	0|0	BAG6|BAG6	31716897|31716897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	6.661000|6.661000	0.74422|0.74422	2.109000|2.109000	0.64355|0.64355	0.369000|0.369000	0.22263|0.22263	CAG|AGC		0.517	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	
LY6G6F	259215	broad.mit.edu	37	6	31677952	31677952	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31677952G>T	ENST00000375832.4	+	4	818	c.796G>T	c.(796-798)Ggc>Tgc	p.G266C	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G266C|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Missense_Mutation_p.G266C	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G266C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGGGGCTCCAGGCAGAGGTGA	0.632																																					p.G266C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796T	6						.						60.0	62.0	61.0					6																	31677952		1511	2707	4218	31785931	SO:0001583	missense	259215	exon4				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.796G>T	6.37:g.31677952G>T	ENSP00000364992:p.Gly266Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31785931	NM_001003693	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970886	0.34754	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.17691	2.48;2.26;2.48	5.25	-2.88	0.05682	.	0.971401	0.08471	N	0.940953	T	0.01092	0.0036	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44847	-0.9301	10	0.37606	T	0.19	0.4188	0.634	0.00799	0.3195:0.1103:0.1916:0.3785	.	266;266	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	C	266	ENSP00000452432:G266C;ENSP00000364992:G266C;ENSP00000421232:G266C	ENSP00000364992:G266C	G	+	1	0	XXbac-BPG32J3.19;LY6G6F	31785931	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.547000	0.06055	-0.443000	0.07180	-0.237000	0.12165	GGC		0.632	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693	
LY6G6C	80740	broad.mit.edu	37	6	31687972	31687972	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31687972G>A	ENST00000375819.2	-	2	226	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	21	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GAGTGACAGCGAATGTCAGCT	0.597																																					p.R21C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61T	6						.						89.0	71.0	77.0					6																	31687972		1510	2709	4219	31795951	SO:0001583	missense	80740	exon2				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.61C>T	6.37:g.31687972G>A	ENSP00000364978:p.Arg21Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31795951	NM_025261	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157111	0.78114	.	.	ENSG00000204421	ENST00000375819	D	0.90676	-2.71	5.11	5.11	0.69529	.	0.000000	0.47455	D	0.000225	D	0.88847	0.6548	L	0.27053	0.805	0.38856	D	0.956375	D	0.89917	1.0	D	0.63703	0.917	D	0.90193	0.4251	10	0.51188	T	0.08	.	14.018	0.64536	0.0:0.0:1.0:0.0	.	21	O95867	LY66C_HUMAN	C	21	ENSP00000364978:R21C	ENSP00000364978:R21C	R	-	1	0	LY6G6C	31795951	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.726000	0.47302	2.391000	0.81399	0.591000	0.81541	CGC		0.597	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2		
MSH5	4439	broad.mit.edu	37	6	31729320	31729320	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31729320C>A	ENST00000375755.3	+	22	2395	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	MSH5_ENST00000375750.3_Silent_p.I703I|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Silent_p.I720I|MSH5_ENST00000534153.4_Silent_p.I720I|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375740.3_Silent_p.I721I|MSH5_ENST00000431848.2_Silent_p.I402I|MSH5_ENST00000395853.1_Silent_p.I377I|MSH5_ENST00000375703.3_Silent_p.I704I|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375742.3_Silent_p.I720I|SAPCD1-AS1_ENST00000419679.1_RNA	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	703					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I704I(1)|p.I89I(1)|p.I720I(1)		breast(1)|ovary(2)|skin(2)	5						GCCCCCACATCTTTGTGGCCA	0.597								Direct reversal of damage;Mismatch excision repair (MMR)																													p.I703I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2109A	6						.						63.0	64.0	64.0					6																	31729320		2203	4300	6503	31837299	SO:0001819	synonymous_variant	4439	exon22			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2109C>A	6.37:g.31729320C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31837299	NM_002441	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																				0.597	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
HSPA1L	3305	broad.mit.edu	37	6	31779514	31779514	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31779514T>G	ENST00000375654.4	-	2	425	c.236A>C	c.(235-237)aAa>aCa	p.K79T	HSPA1L_ENST00000417199.3_Missense_Mutation_p.K79T	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	79					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.K79T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATCATTAAATTTCCTGCCGAT	0.463																																					p.K79T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A236C	6						.						133.0	130.0	131.0					6																	31779514		2203	4300	6503	31887493	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.236A>C	6.37:g.31779514T>G	ENSP00000364805:p.Lys79Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31887493	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370474	0.42003	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.03951	3.75;3.75	4.36	4.36	0.52297	.	.	.	.	.	T	0.05914	0.0154	M	0.74258	2.255	0.40176	D	0.977237	P	0.35033	0.481	B	0.42495	0.389	T	0.01679	-1.1297	9	0.87932	D	0	.	11.5623	0.50785	0.0:0.0:0.0:1.0	.	79	P34931	HS71L_HUMAN	T	79	ENSP00000364805:K79T;ENSP00000387691:K79T	ENSP00000364804:K79T	K	-	2	0	HSPA1L	31887493	0.991000	0.36638	0.789000	0.31954	0.969000	0.65631	1.394000	0.34509	1.816000	0.52996	0.377000	0.23210	AAA		0.463	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
SLC44A4	80736	broad.mit.edu	37	6	31833833	31833833	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31833833A>C	ENST00000229729.6	-	14	1324	c.1304T>G	c.(1303-1305)aTc>aGc	p.I435S	SLC44A4_ENST00000375562.4_Missense_Mutation_p.I393S|SLC44A4_ENST00000544672.1_Missense_Mutation_p.I359S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	435					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I435S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGAACGTTGGATTAGGCCTTT	0.582																																					p.I393S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1178G	6						.						120.0	112.0	115.0					6																	31833833		2203	4300	6503	31941812	SO:0001583	missense	80736	exon13			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1304T>G	6.37:g.31833833A>C	ENSP00000229729:p.Ile435Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31941812	NM_001178044	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.21|11.21	1.571662|1.571662	0.28003|0.28003	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672|ENST00000414427	T;T;T|.	0.22336|.	1.96;1.96;1.96|.	5.21|5.21	-1.24|-1.24	0.09435|0.09435	.|.	0.527372|.	0.19527|.	N|.	0.112135|.	T|T	0.06554|0.06554	0.0168|0.0168	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.25987|.	0.065|.	T|T	0.40403|0.40403	-0.9565|-0.9565	10|5	0.52906|.	T|.	0.07|.	-24.3063|-24.3063	10.576|10.576	0.45227|0.45227	0.5847:0.0:0.4153:0.0|0.5847:0.0:0.4153:0.0	.|.	435|.	Q53GD3|.	CTL4_HUMAN|.	S|A	435;393;359|319	ENSP00000229729:I435S;ENSP00000364712:I393S;ENSP00000444109:I359S|.	ENSP00000229729:I435S|.	I|S	-|-	2|1	0|0	SLC44A4|SLC44A4	31941812|31941812	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.661000|0.661000	0.39034|0.39034	0.222000|0.222000	0.17699|0.17699	-0.095000|-0.095000	0.12351|0.12351	-0.256000|-0.256000	0.11100|0.11100	ATC|TCC		0.582	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3		
CFB	629	broad.mit.edu	37	6	31914333	31914333	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31914333G>A	ENST00000425368.2	+	2	761	c.248G>A	c.(247-249)aGc>aAc	p.S83N	CFB_ENST00000556679.1_Missense_Mutation_p.S585N|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.S585N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	83	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.S83N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGTCCTGGAGCACCCTGAAG	0.572																																					p.S83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	6						.						74.0	58.0	63.0					6																	31914333		1511	2709	4220	32022312	SO:0001583	missense	629	exon2			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.248G>A	6.37:g.31914333G>A	ENSP00000416561:p.Ser83Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32022312	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212153	0.58452	.	.	ENSG00000243649;ENSG00000243649;ENSG00000243649;ENSG00000244255	ENST00000556679;ENST00000475617;ENST00000425368;ENST00000456570	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.17	4.3	0.51218	Complement control module (1);Sushi/SCR/CCP (3);	0.575512	0.16815	N	0.198401	T	0.69744	0.3145	M	0.64170	1.965	0.41114	D	0.985764	D;D;D;D	0.89917	1.0;0.984;0.997;0.998	D;D;D;P	0.77557	0.99;0.954;0.95;0.761	T	0.70550	-0.4841	10	0.48119	T	0.1	-10.7653	9.5395	0.39242	0.0976:0.0:0.9024:0.0	.	83;585;83;83	B4E1Z1;B4E1Z4;P00751;P00751-2	.;.;CFAB_HUMAN;.	N	585;83;83;585	ENSP00000451848:S585N;ENSP00000420090:S83N;ENSP00000416561:S83N;ENSP00000410815:S585N	ENSP00000416561:S83N	S	+	2	0	CFB;XXbac-BPG116M5.17	32022312	0.997000	0.39634	0.846000	0.33378	0.536000	0.34869	3.270000	0.51600	1.204000	0.43247	0.313000	0.20887	AGC		0.572	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
CFB	629	broad.mit.edu	37	6	31915759	31915759	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31915759A>G	ENST00000425368.2	+	6	1311	c.798A>G	c.(796-798)tcA>tcG	p.S266S	CFB_ENST00000556679.1_Silent_p.S768S|CFB_ENST00000477310.1_Silent_p.S617S|CFB_ENST00000456570.1_Silent_p.S768S|CFB_ENST00000497841.1_3'UTR	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	266					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.S266S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGACCCTTCAGGCTCCATGA	0.517																																					p.S266S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A798G	6						.						115.0	121.0	119.0					6																	31915759		2203	4300	6503	32023738	SO:0001819	synonymous_variant	629	exon6			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.798A>G	6.37:g.31915759A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32023738	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	CCDS4729.1																																																																																				0.517	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
SKIV2L	6499	broad.mit.edu	37	6	31931487	31931487	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:31931487A>G	ENST00000375394.2	+	15	1737	c.1624A>G	c.(1624-1626)Aca>Gca	p.T542A	SKIV2L_ENST00000544581.1_Missense_Mutation_p.T349A	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	542					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.T542A(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAAGCAGCCCACACATCAGGG	0.577																																					p.T542A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1624G	6						.						37.0	39.0	38.0					6																	31931487		1511	2709	4220	32039466	SO:0001583	missense	6499	exon15				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1624A>G	6.37:g.31931487A>G	ENSP00000364543:p.Thr542Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32039466	NM_006929	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	A	0.211	-1.036351	0.02029	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.70749	-0.51;-0.51	4.76	3.56	0.40772	.	0.416092	0.28889	N	0.013809	T	0.23532	0.0569	N	0.11427	0.14	0.23030	N	0.998407	B	0.02656	0.0	B	0.04013	0.001	T	0.14727	-1.0462	10	0.08599	T	0.76	-3.2517	8.5516	0.33455	0.9072:0.0:0.0928:0.0	.	542	Q15477	SKIV2_HUMAN	A	542;384;349	ENSP00000364543:T542A;ENSP00000442645:T349A	ENSP00000364543:T542A	T	+	1	0	SKIV2L	32039466	0.979000	0.34478	0.926000	0.36857	0.367000	0.29736	2.145000	0.42207	2.016000	0.59253	0.529000	0.55759	ACA		0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
TNXB	7148	broad.mit.edu	37	6	32039837	32039837	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32039837C>A	ENST00000375244.3	-	13	5121	c.4920G>T	c.(4918-4920)aaG>aaT	p.K1640N	TNXB_ENST00000375247.2_Missense_Mutation_p.K1640N			P22105	TENX_HUMAN	tenascin XB	1722	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.K1727N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAACTTGTACTTGCGGGAGG	0.607																																					p.K1640N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4920T	6						.						35.0	36.0	35.0					6																	32039837		1950	4136	6086	32147815	SO:0001583	missense	7148	exon13			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4920G>T	6.37:g.32039837C>A	ENSP00000364393:p.Lys1640Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32147815	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521640	0.64747	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57107	0.42;0.42	5.28	1.11	0.20524	.	0.285428	0.25081	N	0.033289	T	0.61060	0.2317	M	0.88906	2.99	0.22253	N	0.999257	D	0.89917	1.0	D	0.87578	0.998	T	0.57335	-0.7829	10	0.44086	T	0.13	.	10.0241	0.42061	0.0:0.677:0.0:0.323	.	1640	P22105-3	.	N	1640	ENSP00000364393:K1640N;ENSP00000364396:K1640N	ENSP00000364393:K1640N	K	-	3	2	TNXB	32147815	0.863000	0.29885	0.984000	0.44739	0.995000	0.86356	-0.363000	0.07593	-0.097000	0.12307	0.591000	0.81541	AAG		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
FKBPL	63943	broad.mit.edu	37	6	32096903	32096903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32096903C>A	ENST00000375156.3	-	2	925	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	219					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E219*(1)									CGAAATAGTTCTGTGCCCCTT	0.602																																					p.E219X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G655T	6						.						80.0	86.0	84.0					6																	32096903		2203	4300	6503	32204881	SO:0001587	stop_gained	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.655G>T	6.37:g.32096903C>A	ENSP00000364298:p.Glu219*	Somatic		Capture	Illumina HiSeq	Phase_I	32204881	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Nonsense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	38	7.266585	0.98175	.	.	ENSG00000204315	ENST00000375156	.	.	.	5.38	4.5	0.54988	.	0.628439	0.15173	N	0.276508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.8655	7.3445	0.26656	0.0:0.7416:0.1711:0.0874	.	.	.	.	X	219	.	ENSP00000364298:E219X	E	-	1	0	FKBPL	32204881	0.962000	0.33011	1.000000	0.80357	0.984000	0.73092	1.971000	0.40530	1.468000	0.48064	0.462000	0.41574	GAA		0.602	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
FKBPL	63943	broad.mit.edu	37	6	32097116	32097116	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32097116C>T	ENST00000375156.3	-	2	712	c.442G>A	c.(442-444)Gta>Ata	p.V148I	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	148					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V148I(1)									CATGGCCCTACGCCCATAGTT	0.577																																					p.V148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	6						.						196.0	213.0	207.0					6																	32097116		2203	4300	6503	32205094	SO:0001583	missense	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.442G>A	6.37:g.32097116C>T	ENSP00000364298:p.Val148Ile	Somatic		Capture	Illumina HiSeq	Phase_I	32205094	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	3.801	-0.041734	0.07452	.	.	ENSG00000204315	ENST00000375156	T	0.80214	-1.35	5.23	-3.56	0.04626	.	1.788340	0.02818	N	0.125173	T	0.34658	0.0905	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20438	-1.0275	10	0.18276	T	0.48	0.4223	5.0465	0.14487	0.2693:0.2903:0.0:0.4403	.	148	Q9UIM3	FKBPL_HUMAN	I	148	ENSP00000364298:V148I	ENSP00000364298:V148I	V	-	1	0	FKBPL	32205094	0.000000	0.05858	0.001000	0.08648	0.894000	0.52154	-0.318000	0.08050	-0.406000	0.07588	0.462000	0.41574	GTA		0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
BTNL2	56244	broad.mit.edu	37	6	32370821	32370821	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32370821G>T	ENST00000374993.1	-	3	599	c.600C>A	c.(598-600)ttC>ttA	p.F200L	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.F200L|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	200	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.F200L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTTCCGCATAGAACAGGCCAT	0.592																																					p.F200L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C600A	6						.						98.0	87.0	91.0					6																	32370821		1511	2709	4220	32478799	SO:0001583	missense	56244	exon3			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.600C>A	6.37:g.32370821G>T	ENSP00000364132:p.Phe200Leu	Somatic		Capture	Illumina HiSeq	Phase_I	32478799	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	G	16.46	3.129921	0.56721	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.15372	2.43	4.44	3.58	0.41010	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126883	0.36893	N	0.002346	T	0.33381	0.0861	M	0.90650	3.135	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.31586	-0.9938	10	0.72032	D	0.01	.	8.6511	0.34035	0.1046:0.0:0.8954:0.0	.	200	Q9UIR0	BTNL2_HUMAN	L	200	ENSP00000364132:F200L	ENSP00000364132:F200L	F	-	3	2	BTNL2	32478799	0.944000	0.32072	0.978000	0.43139	0.269000	0.26545	1.585000	0.36600	1.262000	0.44165	0.626000	0.83405	TTC		0.592	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
TAP2	6891	broad.mit.edu	37	6	32796738	32796738	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32796738G>A	ENST00000374897.2	-	12	2137	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	TAP2_ENST00000374899.4_Intron|TAP2_ENST00000452392.2_Intron	NM_000544.3	NP_000535.3	Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A669V(1)								Vitamin E(DB00163)	GATCTGGTGGGCGCGCTGAAC	0.612																																					p.A669V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2006T	6						.						8.0	9.0	8.0					6																	32796738		1243	2381	3624	32904716	SO:0001583	missense	6891	exon12			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000374897.2:c.2006C>T	6.37:g.32796738G>A	ENSP00000364032:p.Ala669Val	Somatic		Capture	Illumina HiSeq	Phase_I	32904716	NM_000544	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000374897.2	37		.	.	.	.	.	.	.	.	.	.	G	14.27	2.486709	0.44249	.	.	ENSG00000204267	ENST00000374897	D	0.83163	-1.69	5.77	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.246144	0.28365	N	0.015619	T	0.69260	0.3091	L	0.57536	1.79	0.49130	D	0.999756	P;P	0.46578	0.88;0.88	B;B	0.35971	0.215;0.215	T	0.75365	-0.3343	9	0.66056	D	0.02	.	13.7988	0.63188	0.0:0.0:0.8454:0.1546	.	670;669	Q59H06;Q03519	.;TAP2_HUMAN	V	669	ENSP00000364032:A669V	ENSP00000364032:A669V	A	-	2	0	TAP2	32904716	1.000000	0.71417	0.036000	0.18154	0.024000	0.10985	5.058000	0.64300	1.395000	0.46643	0.596000	0.82720	GCC		0.612	TAP2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076088.2	NM_000544	
HLA-DMA	3108	broad.mit.edu	37	6	32918419	32918419	+	Missense_Mutation	SNP	C	C	T	rs148138044		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:32918419C>T	ENST00000374843.4	-	2	335	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395305.3_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.E84K	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	84	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.E84K(2)		kidney(1)|large_intestine(2)|lung(8)	11						TCAGCAAATTCGGGCAGGCGA	0.532																																					p.E84K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G250A	6						.	C	LYS/GLU	1,3019		0,1,1509	90.0	102.0	98.0		250	5.5	1.0	6	dbSNP_134	98	0,5416		0,0,2708	no	missense	HLA-DMA	NM_006120.3	56	0,1,4217	TT,TC,CC		0.0,0.0331,0.0119	benign	84/262	32918419	1,8435	1510	2708	4218	33026397	SO:0001583	missense	3108	exon2				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.250G>A	6.37:g.32918419C>T	ENSP00000363976:p.Glu84Lys	Somatic		Capture	Illumina HiSeq	Phase_I	33026397	NM_006120	Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665185	0.88251	3.31E-4	0.0	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.53	5.53	0.82687	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.568036	0.18257	N	0.146776	T	0.32793	0.0841	L	0.46157	1.445	0.35365	D	0.788566	D;D	0.54964	0.969;0.969	P;P	0.50270	0.636;0.636	T	0.14980	-1.0453	10	0.66056	D	0.02	.	14.8363	0.70187	0.0:1.0:0.0:0.0	.	84;84	P28067;Q31604	DMA_HUMAN;.	K	84;84;114;51;76	ENSP00000378714:E84K;ENSP00000363976:E84K;ENSP00000409668:E114K;ENSP00000403122:E51K	ENSP00000345804:E76K	E	-	1	0	HLA-DMA	33026397	0.940000	0.31905	0.995000	0.50966	0.912000	0.54170	2.187000	0.42602	2.885000	0.99019	0.643000	0.83706	GAA		0.532	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120	
COL11A2	1302	broad.mit.edu	37	6	33131496	33131496	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33131496G>A	ENST00000374708.4	-	64	5170	c.4912C>T	c.(4912-4914)Cgg>Tgg	p.R1638W	COL11A2_ENST00000357486.1_Missense_Mutation_p.R1703W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1698W|COL11A2_ENST00000341947.2_Missense_Mutation_p.R1724W|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1677W|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1643W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1617W|COL11A2_ENST00000395197.1_Missense_Mutation_p.R1664W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1724	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1724W(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCCCTCCCCGCCTCGGTGGG	0.637																																					p.R1638W	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4912T	6						.						64.0	63.0	63.0					6																	33131496		1509	2709	4218	33239474	SO:0001583	missense	1302	exon64			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4912C>T	6.37:g.33131496G>A	ENSP00000363840:p.Arg1638Trp	Somatic		Capture	Illumina HiSeq	Phase_I	33239474	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803360	0.70682	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.93	4.93	0.64822	Fibrillar collagen, C-terminal (4);	0.202762	0.37955	N	0.001866	T	0.75679	0.3882	L	0.32530	0.975	0.39939	D	0.974388	D;D;D;D	0.89917	1.0;0.996;0.996;0.997	D;P;P;P	0.79108	0.992;0.736;0.736;0.828	T	0.79546	-0.1759	10	0.87932	D	0	.	15.6889	0.77434	0.0:0.0:1.0:0.0	.	320;1617;1638;1724	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	W	1638;1724;1703;1698;1677;1664;1643;1617;294	ENSP00000363840:R1638W;ENSP00000339915:R1724W;ENSP00000350079:R1703W;ENSP00000363846:R1698W;ENSP00000363845:R1677W;ENSP00000378623:R1664W;ENSP00000363844:R1643W;ENSP00000355123:R1617W	ENSP00000339915:R1724W	R	-	1	2	COL11A2	33239474	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	1.774000	0.38573	2.557000	0.86248	0.643000	0.83706	CGG		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
COL11A2	1302	broad.mit.edu	37	6	33145441	33145441	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33145441A>C	ENST00000374708.4	-	20	1915	c.1657T>G	c.(1657-1659)Ttg>Gtg	p.L553V	COL11A2_ENST00000357486.1_Missense_Mutation_p.L618V|COL11A2_ENST00000374714.1_Missense_Mutation_p.L613V|COL11A2_ENST00000341947.2_Missense_Mutation_p.L639V|COL11A2_ENST00000374713.1_Missense_Mutation_p.L592V|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.L558V|COL11A2_ENST00000361917.1_Missense_Mutation_p.L532V|COL11A2_ENST00000395197.1_Missense_Mutation_p.L579V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	639	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.L639V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCACTCACCAAGCTCCCTTTG	0.607																																					p.L553V	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1657G	6						.						49.0	44.0	46.0					6																	33145441		1511	2709	4220	33253419	SO:0001583	missense	1302	exon20			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1657T>G	6.37:g.33145441A>C	ENSP00000363840:p.Leu553Val	Somatic		Capture	Illumina HiSeq	Phase_I	33253419	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	4.578	0.107335	0.08780	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000008	T	0.72382	0.3453	N	0.11870	0.19	0.52501	D	0.999953	B;B;B	0.32128	0.357;0.175;0.22	B;B;B	0.36959	0.237;0.171;0.082	T	0.73288	-0.4030	10	0.02654	T	1	.	6.3805	0.21531	0.891:0.0:0.109:0.0	.	532;553;639	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	553;639;618;613;592;579;558;532	ENSP00000363840:L553V;ENSP00000339915:L639V;ENSP00000350079:L618V;ENSP00000363846:L613V;ENSP00000363845:L592V;ENSP00000378623:L579V;ENSP00000363844:L558V;ENSP00000355123:L532V	ENSP00000339915:L639V	L	-	1	2	COL11A2	33253419	0.898000	0.30612	1.000000	0.80357	0.937000	0.57800	0.059000	0.14322	1.822000	0.53115	0.372000	0.22366	TTG		0.607	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
COL11A2	1302	broad.mit.edu	37	6	33146701	33146701	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33146701A>G	ENST00000374708.4	-	15	1661	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A	COL11A2_ENST00000357486.1_Missense_Mutation_p.V533A|COL11A2_ENST00000374714.1_Missense_Mutation_p.V528A|COL11A2_ENST00000341947.2_Missense_Mutation_p.V554A|COL11A2_ENST00000374713.1_Missense_Mutation_p.V507A|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000374712.1_Missense_Mutation_p.V473A|COL11A2_ENST00000361917.1_Missense_Mutation_p.V447A|COL11A2_ENST00000395197.1_Missense_Mutation_p.V494A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	554	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V554A(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTTACCTTCACTCCAGGATC	0.617																																					p.V468A	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1403C	6						.						49.0	45.0	46.0					6																	33146701		1511	2709	4220	33254679	SO:0001583	missense	1302	exon15			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1403T>C	6.37:g.33146701A>G	ENSP00000363840:p.Val468Ala	Somatic		Capture	Illumina HiSeq	Phase_I	33254679	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.567716	0.28003	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.47	4.47	0.54385	.	0.471028	0.20956	N	0.082659	T	0.63319	0.2501	N	0.02202	-0.64	0.26948	N	0.966096	B;B;B	0.25486	0.02;0.02;0.127	B;B;B	0.28385	0.032;0.032;0.089	T	0.59810	-0.7384	10	0.07482	T	0.82	.	6.5849	0.22614	0.894:0.0:0.106:0.0	.	447;468;554	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	A	468;554;533;528;507;494;473;447;554	ENSP00000363840:V468A;ENSP00000339915:V554A;ENSP00000350079:V533A;ENSP00000363846:V528A;ENSP00000363845:V507A;ENSP00000378623:V494A;ENSP00000363844:V473A;ENSP00000355123:V447A;ENSP00000405520:V554A	ENSP00000339915:V554A	V	-	2	0	COL11A2	33254679	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	1.228000	0.32588	1.883000	0.54544	0.368000	0.22195	GTG		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
SLC39A7	7922	broad.mit.edu	37	6	33171324	33171324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33171324C>T	ENST00000374677.3	+	7	1517	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.R382C|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	382					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.R382C(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCAGGCGATGCGTCTGCAACT	0.527																																					p.R382C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1144T	6						.						65.0	64.0	64.0					6																	33171324		1986	4149	6135	33279302	SO:0001583	missense	7922	exon7			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1144C>T	6.37:g.33171324C>T	ENSP00000363809:p.Arg382Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33279302	NM_006979	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462329	0.26248	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.48522	0.81;0.81	4.96	4.09	0.47781	.	0.319926	0.31290	N	0.007919	T	0.13157	0.0319	N	0.16166	0.38	0.45066	D	0.998087	B;B	0.18863	0.031;0.03	B;B	0.18561	0.022;0.004	T	0.06023	-1.0850	10	0.38643	T	0.18	-8.6378	6.23	0.20730	0.1829:0.7239:0.0:0.0932	.	363;382	B4DVK8;Q92504	.;S39A7_HUMAN	C	382;363;287;382	ENSP00000363807:R382C;ENSP00000363809:R382C	ENSP00000363807:R382C	R	+	1	0	SLC39A7	33279302	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.272000	0.33109	1.316000	0.45131	0.549000	0.68633	CGT		0.527	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
WDR46	9277	broad.mit.edu	37	6	33256619	33256619	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33256619C>T	ENST00000374617.4	-	2	597	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	81							poly(A) RNA binding (GO:0044822)	p.E81K(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TTCTTCCATTCTCGGGGTTTC	0.567																																					p.E27K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	6						.						32.0	36.0	35.0					6																	33256619		2203	4300	6503	33364597	SO:0001583	missense	9277	exon2			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.241G>A	6.37:g.33256619C>T	ENSP00000363746:p.Glu81Lys	Somatic		Capture	Illumina HiSeq	Phase_I	33364597	NM_001164267	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	0.715	-0.785747	0.02907	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.22945	2.11;1.93	3.9	2.08	0.27032	.	0.644095	0.15849	N	0.241601	T	0.04679	0.0127	L	0.36672	1.1	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.22386	0.039;0.016	T	0.42666	-0.9438	10	0.07175	T	0.84	-0.3579	5.3606	0.16085	0.0:0.6808:0.207:0.1122	.	27;81	B4DP15;O15213	.;WDR46_HUMAN	K	81;16	ENSP00000363746:E81K;ENSP00000405568:E16K	ENSP00000363746:E81K	E	-	1	0	WDR46	33364597	0.002000	0.14202	0.001000	0.08648	0.035000	0.12851	0.595000	0.24029	0.604000	0.29930	-0.404000	0.06349	GAA		0.567	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452	
ZBTB22	9278	broad.mit.edu	37	6	33281187	33281187	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33281187C>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000426633.2_Missense_Mutation_p.E92D|TAPBP_ENST00000456592.2_Missense_Mutation_p.E92D|TAPBP_ENST00000475304.1_Missense_Mutation_p.E92D|TAPBP_ENST00000434618.2_Missense_Mutation_p.E92D|TAPBP_ENST00000489157.1_Intron	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E92D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGCGGCTCATCTCGCAGTGTG	0.697																																					p.E92D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G276T	6						.						10.0	14.0	13.0					6																	33281187		2189	4289	6478	33389165	SO:0001628	intergenic_variant	6892	exon3			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281187C>A		Somatic		Capture	Illumina HiSeq	Phase_I	33389165	NM_172208	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329690	0.60743	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741;ENST00000467025	T;T;T;T	0.62639	0.27;0.01;0.16;0.26	4.55	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.78801	2.425	0.47341	D	0.99939	D;D;D;D;D	0.71674	0.985;0.998;0.985;0.985;0.975	D;D;D;D;P	0.74674	0.951;0.984;0.951;0.951;0.894	T	0.72906	-0.4150	10	0.72032	D	0.01	-12.5784	8.6598	0.34086	0.0:0.896:0.0:0.104	.	92;92;92;92;92	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	D	92;92;92;92;92;92;92;35	ENSP00000395701:E92D;ENSP00000417949:E92D;ENSP00000404833:E92D;ENSP00000387803:E92D	ENSP00000404833:E92D	E	-	3	2	TAPBP	33389165	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	1.308000	0.33528	1.127000	0.42034	0.551000	0.68910	GAG		0.697	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2		
SYNGAP1	8831	broad.mit.edu	37	6	33405513	33405513	+	Missense_Mutation	SNP	G	G	T	rs149394351		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33405513G>T	ENST00000418600.2	+	8	932	c.831G>T	c.(829-831)aaG>aaT	p.K277N	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.K218N|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.K277N	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	277	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.K277N(1)|p.K262N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCCCCCCAAGAAGCGGTACT	0.607																																					p.K277N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G831T	6						.						84.0	96.0	92.0					6																	33405513		2203	4300	6503	33513491	SO:0001583	missense	8831	exon8			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.831G>T	6.37:g.33405513G>T	ENSP00000403636:p.Lys277Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33513491	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241725	0.79912	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.70399	-0.48;-0.48;-0.48	4.51	4.51	0.55191	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.99	D	0.87590	0.2490	10	0.87932	D	0	.	14.7891	0.69827	0.0:0.0:1.0:0.0	.	277;277;277	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	N	277;277;277;218	ENSP00000293748:K277N;ENSP00000403636:K277N;ENSP00000412475:K218N	ENSP00000293748:K277N	K	+	3	2	SYNGAP1	33513491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.716000	0.61916	2.341000	0.79615	0.655000	0.94253	AAG		0.607	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
ITPR3	3710	broad.mit.edu	37	6	33631599	33631599	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33631599G>A	ENST00000374316.5	+	12	2150	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A364T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	364	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A364T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAATGACATCGCCTCTCTCTT	0.612																																					p.A364T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	6						.						76.0	74.0	74.0					6																	33631599		2203	4300	6503	33739577	SO:0001583	missense	3710	exon11			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1090G>A	6.37:g.33631599G>A	ENSP00000363435:p.Ala364Thr	Somatic		Capture	Illumina HiSeq	Phase_I	33739577	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883620	0.72410	.	.	ENSG00000096433	ENST00000374316	D	0.91686	-2.89	4.74	4.74	0.60224	MIR motif (2);MIR (2);	0.056012	0.64402	D	0.000001	D	0.92990	0.7769	M	0.70842	2.15	0.58432	D	0.999997	D	0.56035	0.974	P	0.57468	0.821	D	0.93054	0.6468	10	0.54805	T	0.06	-31.0901	12.9494	0.58391	0.0:0.0:0.8382:0.1618	.	364	Q14573	ITPR3_HUMAN	T	364	ENSP00000363435:A364T	ENSP00000363435:A364T	A	+	1	0	ITPR3	33739577	1.000000	0.71417	0.961000	0.40146	0.832000	0.47134	5.374000	0.66167	2.452000	0.82932	0.484000	0.47621	GCC		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
UQCC2	84300	broad.mit.edu	37	6	33668258	33668258	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33668258G>A	ENST00000607484.1	-	3	286	c.246C>T	c.(244-246)ggC>ggT	p.G82G	UQCC2_ENST00000374214.3_Silent_p.G57G|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	82					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G82G(1)									CCAACGACAGGCCACTGAAGC	0.522											OREG0017352	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G82G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	6						.						196.0	193.0	194.0					6																	33668258		2203	4300	6503	33776236	SO:0001819	synonymous_variant	84300	exon3				CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.246C>T	6.37:g.33668258G>A		Somatic	841	Capture	Illumina HiSeq	Phase_I	33776236	NM_032340	B2R4I0	Silent	SNP	ENST00000607484.1	37	CCDS4784.1																																																																																				0.522	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340	
IP6K3	117283	broad.mit.edu	37	6	33693264	33693264	+	Missense_Mutation	SNP	G	G	A	rs144789373	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:33693264G>A	ENST00000293756.4	-	5	1045	c.719C>T	c.(718-720)gCg>gTg	p.A240V	IP6K3_ENST00000451316.1_Missense_Mutation_p.A240V	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	240					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A240V(1)		skin(1)	1						GGTGCTCTGCGCACACTTCCT	0.652													G|||	14	0.00279553	0.0	0.0	5008	,	,		16416	0.0129		0.0	False		,,,				2504	0.001				p.A240V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	6						.						70.0	60.0	63.0					6																	33693264		2203	4300	6503	33801242	SO:0001583	missense	117283	exon5			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.719C>T	6.37:g.33693264G>A	ENSP00000293756:p.Ala240Val	Somatic		Capture	Illumina HiSeq	Phase_I	33801242	NM_054111	Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878372	0.91740	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.17854	2.25;2.25	5.71	3.71	0.42584	.	0.352934	0.27306	N	0.019978	T	0.07954	0.0199	L	0.41415	1.275	0.34455	D	0.701134	P	0.49090	0.919	P	0.44394	0.448	T	0.16276	-1.0408	10	0.30078	T	0.28	-21.2489	12.0591	0.53552	0.0:0.0:0.4142:0.5858	.	240	Q96PC2	IP6K3_HUMAN	V	240	ENSP00000398861:A240V;ENSP00000293756:A240V	ENSP00000293756:A240V	A	-	2	0	IP6K3	33801242	0.738000	0.28186	0.884000	0.34674	0.948000	0.59901	2.616000	0.46376	1.374000	0.46228	0.655000	0.94253	GCG		0.652	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111	
PACSIN1	29993	broad.mit.edu	37	6	34498093	34498093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:34498093C>T	ENST00000538621.1	+	7	1107	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PACSIN1_ENST00000244458.2_Missense_Mutation_p.R288C|PACSIN1_ENST00000374043.2_Missense_Mutation_p.R246C	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	288	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.R288C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAGATGGTTCCGCAGCACCAG	0.622																																					p.R288C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C862T	6						.						55.0	53.0	54.0					6																	34498093		2203	4300	6503	34606071	SO:0001583	missense	29993	exon7			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.862C>T	6.37:g.34498093C>T	ENSP00000439639:p.Arg288Cys	Somatic		Capture	Illumina HiSeq	Phase_I	34606071	NM_020804	Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067829	0.76301	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.41758	0.99;0.99;0.99	4.51	3.62	0.41486	.	0.055839	0.85682	D	0.000000	T	0.36248	0.0960	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	P	0.46208	0.507	T	0.38650	-0.9651	10	0.48119	T	0.1	-17.1757	11.4714	0.50270	0.327:0.673:0.0:0.0	.	288	Q9BY11	PACN1_HUMAN	C	288;246;288;288	ENSP00000244458:R288C;ENSP00000363155:R246C;ENSP00000439639:R288C	ENSP00000244458:R288C	R	+	1	0	PACSIN1	34606071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.081000	0.41110	0.557000	0.71058	CGC		0.622	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1		
UHRF1BP1	54887	broad.mit.edu	37	6	34803077	34803077	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:34803077G>T	ENST00000192788.5	+	7	847	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D226Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	226							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.D226Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGACCAAAGATTGCAATGT	0.468																																					p.D226Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676T	6						.						136.0	136.0	136.0					6																	34803077		2065	4214	6279	34911055	SO:0001583	missense	54887	exon7			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.676G>T	6.37:g.34803077G>T	ENSP00000192788:p.Asp226Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34911055	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649362	0.87958	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.51325	0.71;0.71	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74708	-0.3574	10	0.87932	D	0	-11.4398	17.6704	0.88216	0.0:0.0:1.0:0.0	.	226	Q6BDS2	URFB1_HUMAN	Y	226	ENSP00000192788:D226Y;ENSP00000400628:D226Y	ENSP00000192788:D226Y	D	+	1	0	UHRF1BP1	34911055	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.537000	0.98070	2.480000	0.83734	0.650000	0.86243	GAT		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
UHRF1BP1	54887	broad.mit.edu	37	6	34826286	34826286	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:34826286T>A	ENST00000192788.5	+	14	2324	c.2153T>A	c.(2152-2154)tTt>tAt	p.F718Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.F718Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	718							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.F718Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACCTTGAATTTTGTAGCCCCC	0.547																																					p.F718Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2153A	6						.						69.0	71.0	71.0					6																	34826286		1892	4105	5997	34934264	SO:0001583	missense	54887	exon14			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2153T>A	6.37:g.34826286T>A	ENSP00000192788:p.Phe718Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34934264	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996508	0.74818	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.19532	2.15;2.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.61703	1.905	0.58432	D	0.999996	D	0.76494	0.999	D	0.80764	0.994	T	0.15549	-1.0433	10	0.66056	D	0.02	-15.8504	15.7361	0.77846	0.0:0.0:0.0:1.0	.	718	Q6BDS2	URFB1_HUMAN	Y	718	ENSP00000192788:F718Y;ENSP00000400628:F718Y	ENSP00000192788:F718Y	F	+	2	0	UHRF1BP1	34934264	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.764000	0.62264	2.120000	0.65058	0.477000	0.44152	TTT		0.547	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
TCP11	6954	broad.mit.edu	37	6	35087105	35087105	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35087105C>A	ENST00000512012.1	-	8	1335	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	TCP11_ENST00000373979.2_Missense_Mutation_p.K331N|TCP11_ENST00000373974.4_Missense_Mutation_p.K360N|TCP11_ENST00000244645.3_Missense_Mutation_p.K331N|TCP11_ENST00000418521.2_Missense_Mutation_p.K330N|TCP11_ENST00000311875.5_Missense_Mutation_p.K406N|TCP11_ENST00000412155.2_Missense_Mutation_p.K355N|TCP11_ENST00000444780.2_Missense_Mutation_p.K401N			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	393					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.K331N(1)|p.K406N(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GGCCCATATTCTTGAGGCTTT	0.463																																					p.K331N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G993T	6						.						237.0	200.0	213.0					6																	35087105		2203	4300	6503	35195083	SO:0001583	missense	6954	exon9				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1179G>T	6.37:g.35087105C>A	ENSP00000425995:p.Lys393Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35195083	NM_018679	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405794|2.405794	0.42715|0.42715	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000502480|ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	.|T;T;T;T;T;T;T;T	.|0.11495	.|2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	4.91|4.91	4.04|4.04	0.47022|0.47022	.|.	.|0.638188	.|0.16065	.|N	.|0.231273	.|T	.|0.11965	.|0.0291	M|M	0.80982|0.80982	2.52|2.52	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D;P	.|0.63046	.|0.957;0.957;0.957;0.992;0.957;0.551	.|P;P;P;P;P;P	.|0.59546	.|0.776;0.776;0.776;0.859;0.841;0.516	.|T	.|0.17048	.|-1.0382	.|10	.|0.22706	.|T	.|0.39	.|.	5.5143|5.5143	0.16898|0.16898	0.0:0.6553:0.1657:0.179|0.0:0.6553:0.1657:0.179	.|.	.|360;355;401;466;393;331	.|B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.|.;.;.;.;TCP11_HUMAN;.	X|N	201|331;355;331;406;401;360;330;393	.|ENSP00000363091:K331N;ENSP00000402816:K355N;ENSP00000244645:K331N;ENSP00000308708:K406N;ENSP00000404479:K401N;ENSP00000363085:K360N;ENSP00000415320:K330N;ENSP00000425995:K393N	.|ENSP00000244645:K331N	E|K	-|-	1|3	0|2	TCP11|TCP11	35195083|35195083	0.000000|0.000000	0.05858|0.05858	0.946000|0.946000	0.38457|0.38457	0.980000|0.980000	0.70556|0.70556	-0.258000|-0.258000	0.08733|0.08733	1.205000|1.205000	0.43262|0.43262	0.467000|0.467000	0.42956|0.42956	GAA|AAG		0.463	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728	
ARMC12	221481	broad.mit.edu	37	6	35705796	35705796	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35705796C>T	ENST00000373866.3	+	2	185				ARMC12_ENST00000288065.2_Intron|RP3-510O8.4_ENST00000452048.1_RNA|ARMC12_ENST00000373869.3_Intron			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)		p.?(1)									GCTGGGGTGGCTGTCTAGGCC	0.592											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						46.0	51.0	49.0					6																	35705796		2203	4300	6503	35813774	SO:0001627	intron_variant	221481	.			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.164-8C>T	6.37:g.35705796C>T		Somatic	857	Capture	Illumina HiSeq	Phase_I	35813774	.	Q8NEB2|Q96LL8	Intron	SNP	ENST00000373866.3	37																																																																																					0.592	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028	
ARMC12	221481	broad.mit.edu	37	6	35715391	35715391	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35715391G>T	ENST00000373866.3	+	5	679	c.657G>T	c.(655-657)aaG>aaT	p.K219N	ARMC12_ENST00000288065.2_Missense_Mutation_p.K246N|ARMC12_ENST00000373869.3_Missense_Mutation_p.K219N			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	219						nucleus (GO:0005634)		p.K246N(1)									TGGCACAGAAGAATGACCTTC	0.488																																					p.K246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G738T	6						.						129.0	123.0	125.0					6																	35715391		2203	4300	6503	35823369	SO:0001583	missense	221481	exon5			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.657G>T	6.37:g.35715391G>T	ENSP00000362973:p.Lys219Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35823369	NM_145028	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	G	1.794	-0.478853	0.04414	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.11712	2.75;2.75;2.75	4.74	1.93	0.25924	.	0.000000	0.45361	D	0.000364	T	0.01254	0.0041	N	0.17082	0.46	0.30487	N	0.771775	B;B	0.21606	0.002;0.058	B;B	0.18561	0.006;0.022	T	0.47849	-0.9085	10	0.02654	T	1	.	7.5008	0.27516	0.3685:0.0:0.6315:0.0	.	219;246	Q5T9G4-3;Q5T9G4-2	.;.	N	219;246;219	ENSP00000362976:K219N;ENSP00000288065:K246N;ENSP00000362973:K219N	ENSP00000288065:K246N	K	+	3	2	C6orf81	35823369	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	1.141000	0.31528	0.430000	0.26230	0.563000	0.77884	AAG		0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028	
LHFPL5	222662	broad.mit.edu	37	6	35773618	35773618	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35773618G>A	ENST00000373853.1	+	1	549	c.171G>A	c.(169-171)ccG>ccA	p.P57P	LHFPL5_ENST00000360215.1_Silent_p.P57P			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	57					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.P57P(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCAACACACCGCAGGCAGGCT	0.612																																					p.P57P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G171A	6						.						228.0	203.0	211.0					6																	35773618		2203	4300	6503	35881596	SO:0001819	synonymous_variant	222662	exon1			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.171G>A	6.37:g.35773618G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35881596	NM_182548	B3KX66	Silent	SNP	ENST00000373853.1	37	CCDS4812.1																																																																																				0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548	
SRPK1	6732	broad.mit.edu	37	6	35825105	35825105	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35825105C>T	ENST00000373825.2	-	13	1838	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	SRPK1_ENST00000423325.2_Missense_Mutation_p.R502H|SRPK1_ENST00000373822.1_Missense_Mutation_p.R410H					SRSF protein kinase 1									p.R517H(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCCAAGGAACGATATTGCCT	0.363																																					p.R518H	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1553A	6						.						135.0	133.0	134.0					6																	35825105		1862	4102	5964	35933083	SO:0001583	missense	6732	exon13			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1553G>A	6.37:g.35825105C>T	ENSP00000362931:p.Arg518His	Somatic		Capture	Illumina HiSeq	Phase_I	35933083	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032018	0.93575	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.65322	0.2680	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	0.964;1.0	B;D	0.87578	0.398;0.998	T	0.77381	-0.2609	9	0.87932	D	0	-5.604	20.1323	0.98003	0.0:1.0:0.0:0.0	.	502;518	B4DS61;Q96SB4	.;SRPK1_HUMAN	H	518;534;502;410	ENSP00000362931:R518H;ENSP00000354674:R534H;ENSP00000391069:R502H;ENSP00000362928:R410H	ENSP00000354674:R534H	R	-	2	0	SRPK1	35933083	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.468000	0.80943	2.857000	0.98124	0.650000	0.86243	CGT		0.363	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
SLC26A8	116369	broad.mit.edu	37	6	35923191	35923191	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:35923191G>A	ENST00000490799.1	-	17	2323	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	SLC26A8_ENST00000355574.2_Missense_Mutation_p.S657F|SLC26A8_ENST00000394602.2_Missense_Mutation_p.S552F	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.S657F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGGTCTTCGGATGCAGTTTG	0.443																																					p.S657F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1970T	6						.						255.0	239.0	245.0					6																	35923191		2203	4300	6503	36031169	SO:0001583	missense	116369	exon17			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1970C>T	6.37:g.35923191G>A	ENSP00000417638:p.Ser657Phe	Somatic		Capture	Illumina HiSeq	Phase_I	36031169	NM_001193476		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321293	0.41096	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.97256	-3.85;-4.31;-3.85	5.01	1.13	0.20643	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.575677	0.17010	N	0.190569	D	0.93025	0.7780	L	0.55990	1.75	0.09310	N	1	D;D;D	0.76494	0.994;0.999;0.998	D;D;D	0.69142	0.925;0.952;0.962	D	0.85331	0.1090	10	0.07990	T	0.79	.	1.7761	0.03022	0.1802:0.1624:0.4896:0.1677	.	657;552;239	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	F	657;552;657	ENSP00000417638:S657F;ENSP00000378100:S552F;ENSP00000347778:S657F	ENSP00000347778:S657F	S	-	2	0	SLC26A8	36031169	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	1.443000	0.35057	0.087000	0.17167	0.655000	0.94253	TCC		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
MAPK14	1432	broad.mit.edu	37	6	36041480	36041480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:36041480G>A	ENST00000229794.4	+	5	818	c.430G>A	c.(430-432)Gct>Act	p.A144T	MAPK14_ENST00000310795.4_Missense_Mutation_p.A144T|MAPK14_ENST00000468133.1_Missense_Mutation_p.A67T|MAPK14_ENST00000229795.3_Missense_Mutation_p.A144T	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.A144T(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TATACATTCAGCTGACATAAT	0.343																																					p.A144T	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	6						.						179.0	174.0	176.0					6																	36041480		2203	4300	6503	36149458	SO:0001583	missense	1432	exon5			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.430G>A	6.37:g.36041480G>A	ENSP00000229794:p.Ala144Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36149458	NM_001315	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546377	0.96488	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.79701	0.4491	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.996;0.999;0.997	D;D;D;D;D	0.77004	0.927;0.989;0.959;0.972;0.972	T	0.82518	-0.0417	10	0.87932	D	0	-6.7216	19.149	0.93481	0.0:0.0:1.0:0.0	.	144;144;144;144;144	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	T	144;144;67;144;67	ENSP00000229795:A144T;ENSP00000229794:A144T;ENSP00000419837:A67T;ENSP00000308669:A144T;ENSP00000419141:A67T	ENSP00000229794:A144T	A	+	1	0	MAPK14	36149458	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.483000	0.73617	2.610000	0.88304	0.650000	0.86243	GCT		0.343	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
BRPF3	27154	broad.mit.edu	37	6	36182126	36182126	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:36182126C>T	ENST00000357641.6	+	8	3205	c.2952C>T	c.(2950-2952)agC>agT	p.S984S	BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Silent_p.S984S|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	984					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.S984S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGTGAGAGCGAAGGGGAGA	0.607																																					p.S984S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2952T	6						.						35.0	43.0	40.0					6																	36182126		2203	4298	6501	36290104	SO:0001819	synonymous_variant	27154	exon8			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2952C>T	6.37:g.36182126C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36290104	NM_015695	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																				0.607	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
C6orf222	389384	broad.mit.edu	37	6	36291965	36291965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:36291965C>A	ENST00000437635.2	-	7	1348	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	391								p.E391*(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGAATGAATTCTTCTGAAAAA	0.483																																					p.E391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1171T	6						.						168.0	144.0	152.0					6																	36291965		2203	4300	6503	36399943	SO:0001587	stop_gained	389384	exon7				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1171G>T	6.37:g.36291965C>A	ENSP00000418983:p.Glu391*	Somatic		Capture	Illumina HiSeq	Phase_I	36399943	NM_001010903	B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	38	6.763103	0.97821	.	.	ENSG00000189325	ENST00000437635	.	.	.	2.67	1.79	0.24919	.	0.163605	0.29218	N	0.012782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-33.5195	5.4943	0.16793	0.0:0.8428:0.0:0.1572	.	.	.	.	X	391	.	ENSP00000418983:E391X	E	-	1	0	C6orf222	36399943	0.559000	0.26562	0.757000	0.31301	0.799000	0.45148	0.706000	0.25690	0.704000	0.31869	0.462000	0.41574	GAA		0.483	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	
PIM1	5292	broad.mit.edu	37	6	37140890	37140890	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37140890C>T	ENST00000373509.5	+	5	1099	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.F242F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATATTCCTTTCGAGCATGACG	0.537			T	BCL6	NHL																																p.F242F			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726T	6						.						131.0	123.0	125.0					6																	37140890		2203	4300	6503	37248868	SO:0001819	synonymous_variant	5292	exon5				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.726C>T	6.37:g.37140890C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37248868	NM_002648	Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	CCDS4830.1																																																																																				0.537	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		
TMEM217	221468	broad.mit.edu	37	6	37186635	37186635	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37186635T>C	ENST00000336655.2	-	2	211	c.172A>G	c.(172-174)Aac>Gac	p.N58D	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.N58D	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	58						integral component of membrane (GO:0016021)		p.N58D(1)|p.N58Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ATGATGAAGTTATTTATGATG	0.448																																					p.N58D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A172G	6						.						282.0	264.0	270.0					6																	37186635		2203	4300	6503	37294613	SO:0001583	missense	221468	exon2				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.172A>G	6.37:g.37186635T>C	ENSP00000338164:p.Asn58Asp	Somatic		Capture	Illumina HiSeq	Phase_I	37294613	NM_145316	Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	T	2.615	-0.289886	0.05568	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.23	-8.46	0.00942	.	.	.	.	.	T	0.01695	0.0054	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34650	-0.9820	8	0.10636	T	0.68	5.8042	3.0377	0.06128	0.1548:0.4314:0.1277:0.2861	.	58;58	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	D	58	.	ENSP00000338164:N58D	N	-	1	0	TMEM217	37294613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.872000	0.00720	-1.765000	0.01303	-1.024000	0.02432	AAC		0.448	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316	
RNF8	9025	broad.mit.edu	37	6	37328339	37328339	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37328339A>G	ENST00000373479.4	+	2	422	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000469731.1_Missense_Mutation_p.M77V|RNF8_ENST00000394443.4_Missense_Mutation_p.M77V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	77	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M77V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATGGACAATTATGGACAACAA	0.343																																					p.M77V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A229G	6						.						102.0	95.0	98.0					6																	37328339		2203	4300	6503	37436317	SO:0001583	missense	9025	exon2			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.229A>G	6.37:g.37328339A>G	ENSP00000362578:p.Met77Val	Somatic		Capture	Illumina HiSeq	Phase_I	37436317	NM_003958	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050913	0.36181	.	.	ENSG00000112130	ENST00000373479;ENST00000394443;ENST00000487950;ENST00000469731	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.98	3.81	0.43845	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.164448	0.52532	D	0.000072	T	0.52273	0.1724	N	0.05554	-0.025	0.29018	N	0.886471	B;B	0.16603	0.018;0.016	B;B	0.26864	0.009;0.074	T	0.41875	-0.9484	10	0.24483	T	0.36	-1.9071	10.18	0.42961	0.9206:0.0:0.0794:0.0	.	20;77	C9J858;O76064	.;RNF8_HUMAN	V	77;77;20;77	ENSP00000362578:M77V;ENSP00000377961:M77V;ENSP00000417736:M20V;ENSP00000418879:M77V	ENSP00000229866:M77V	M	+	1	0	RNF8	37436317	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.320000	0.51991	0.848000	0.35191	0.455000	0.32223	ATG		0.343	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2		
RNF8	9025	broad.mit.edu	37	6	37358517	37358517	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37358517G>A	ENST00000373479.4	+	8	1634		c.e8-1		RNF8_ENST00000469731.1_Splice_Site	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTCTCCAAAGCAAAGAGATT	0.498																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						99.0	100.0	100.0					6																	37358517		2203	4300	6503	37466495	SO:0001630	splice_region_variant	9025	.			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1442-1G>A	6.37:g.37358517G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37466495	.	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Splice_Site	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906884	0.52333	.	.	ENSG00000112130	ENST00000373479;ENST00000469731;ENST00000498460	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0376	0.64654	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF8	37466495	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.188000	0.58351	2.766000	0.95052	0.655000	0.94253	.		0.498	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2		Intron
CMTR1	23070	broad.mit.edu	37	6	37430663	37430663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37430663G>A	ENST00000373451.4	+	13	1548	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	462					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.A462T(1)									TTACCTCTTCGCAGTGAATAT	0.512																																					p.A462T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1384A	6						.						205.0	170.0	182.0					6																	37430663		2203	4300	6503	37538641	SO:0001583	missense	23070	exon13			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1384G>A	6.37:g.37430663G>A	ENSP00000362550:p.Ala462Thr	Somatic		Capture	Illumina HiSeq	Phase_I	37538641	NM_015050	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831989	0.32421	.	.	ENSG00000137200	ENST00000373451	.	.	.	5.87	0.611	0.17586	.	0.627125	0.17009	N	0.190612	T	0.01976	0.0062	N	0.00707	-1.245	0.20403	N	0.999907	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.15066	T	0.55	-3.1553	5.8358	0.18607	0.2844:0.0:0.3656:0.35	.	462	Q8N1G2	MTR1_HUMAN	T	462	.	ENSP00000362550:A462T	A	+	1	0	FTSJD2	37538641	0.968000	0.33430	1.000000	0.80357	0.990000	0.78478	1.996000	0.40776	0.545000	0.28902	-0.262000	0.10625	GCA		0.512	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
CMTR1	23070	broad.mit.edu	37	6	37440242	37440242	+	Silent	SNP	G	G	A	rs148292601		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37440242G>A	ENST00000373451.4	+	16	1832	c.1668G>A	c.(1666-1668)tcG>tcA	p.S556S		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	556					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.S556S(2)									ACCCTAAATCGAAGTTCTTTG	0.458																																					p.S556S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1668A	6						.						107.0	98.0	101.0					6																	37440242		2203	4300	6503	37548220	SO:0001819	synonymous_variant	23070	exon16			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1668G>A	6.37:g.37440242G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37548220	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																				0.458	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
CMTR1	23070	broad.mit.edu	37	6	37445404	37445404	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37445404G>T	ENST00000373451.4	+	21	2306	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	714					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.K714N(1)									AGATGGAGAAGATTTTTGTCA	0.532																																					p.K714N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2142T	6						.						209.0	202.0	204.0					6																	37445404		2203	4300	6503	37553382	SO:0001583	missense	23070	exon21			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2142G>T	6.37:g.37445404G>T	ENSP00000362550:p.Lys714Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37553382	NM_015050	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.166252|2.166252	0.38217|0.38217	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000373451;ENST00000373420;ENST00000452299|ENST00000457419	D|.	0.84589|.	-1.87|.	5.95|5.95	4.91|4.91	0.64330|0.64330	.|.	0.042039|.	0.85682|.	D|.	0.000000|.	T|T	0.54255|0.54255	0.1847|0.1847	L|L	0.50333|0.50333	1.59|1.59	0.51767|0.51767	D|D	0.999936|0.999936	B|.	0.17465|.	0.022|.	B|.	0.14023|.	0.01|.	T|T	0.48636|0.48636	-0.9018|-0.9018	10|5	0.62326|.	D|.	0.03|.	-27.4724|-27.4724	14.7759|14.7759	0.69732|0.69732	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	714|.	Q8N1G2|.	MTR1_HUMAN|.	N|I	714;121;58|67	ENSP00000362550:K714N|.	ENSP00000362519:K121N|.	K|R	+|+	3|2	2|0	FTSJD2|FTSJD2	37553382|37553382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.582000|2.582000	0.46085|0.46085	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.532	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
MDGA1	266727	broad.mit.edu	37	6	37606447	37606447	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:37606447C>T	ENST00000434837.3	-	15	3715				MDGA1_ENST00000505425.1_Intron|MDGA1_ENST00000297153.7_Intron	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1						brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.?(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGGAGCCTGCGGTGGGTGTG	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						32.0	38.0	36.0					6																	37606447		2064	4204	6268	37714425	SO:0001627	intron_variant	266727	.			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2537-4G>A	6.37:g.37606447C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37714425	.	A6NHG0|Q8NBE3	Intron	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																				0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
BTBD9	114781	broad.mit.edu	37	6	38312792	38312792	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38312792T>C	ENST00000481247.1	-	7	1383	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	BTBD9_ENST00000408958.1_Missense_Mutation_p.N343S|BTBD9_ENST00000314100.6_Missense_Mutation_p.N343S|BTBD9_ENST00000419706.2_Missense_Mutation_p.N381S|BTBD9_ENST00000403056.1_Missense_Mutation_p.N411S	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	411					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.N411S(1)|p.N343S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAAGGTTTTGTTTGTAAACAT	0.318																																					p.N381S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1142G	6						.						106.0	101.0	102.0					6																	38312792		1818	4080	5898	38420770	SO:0001583	missense	114781	exon7				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1232A>G	6.37:g.38312792T>C	ENSP00000418751:p.Asn411Ser	Somatic		Capture	Illumina HiSeq	Phase_I	38420770	NM_001172418	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	1.138	-0.650358	0.03506	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.71222	-0.55;-0.38;-0.54;-0.38;-0.55	5.45	5.45	0.79879	.	0.281001	0.35013	N	0.003505	T	0.27524	0.0676	N	0.04297	-0.235	0.41573	D	0.988699	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.003	T	0.30995	-0.9959	10	0.06494	T	0.89	.	15.5183	0.75842	0.0:0.0:0.0:1.0	.	381;411	Q494V9;Q96Q07	.;BTBD9_HUMAN	S	343;411;381;411;343	ENSP00000323408:N343S;ENSP00000418751:N411S;ENSP00000415365:N381S;ENSP00000386121:N411S;ENSP00000386211:N343S	ENSP00000323408:N343S	N	-	2	0	BTBD9	38420770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.318000	0.65829	2.073000	0.62155	0.383000	0.25322	AAC		0.318	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
DNAH8	1769	broad.mit.edu	37	6	38690855	38690855	+	5'Flank	SNP	G	G	A	rs180723141	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38690855G>A	ENST00000359357.3	+	0	0				DNAH8_ENST00000449981.2_Silent_p.P90P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P90P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCTTGCACCGCGACCGGTTC	0.527																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	6						.						108.0	98.0	101.0					6																	38690855		876	1991	2867	38798833	SO:0001631	upstream_gene_variant	1769	.			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253		6.37:g.38690855G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	38798833	.	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	5'UTR	SNP	ENST00000359357.3	37																																																																																					0.527	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38702336	38702336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38702336G>T	ENST00000359357.3	+	3	300	c.46G>T	c.(46-48)Gga>Tga	p.G16*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.G16*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.G233*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	16					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G16*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAACTAAAAGGACTGTGCAT	0.333																																					p.G16X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G46T	6						.						156.0	164.0	162.0					6																	38702336		2203	4300	6503	38810314	SO:0001587	stop_gained	1769	exon3			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.46G>T	6.37:g.38702336G>T	ENSP00000352312:p.Gly16*	Somatic		Capture	Illumina HiSeq	Phase_I	38810314	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	38	6.909442	0.97928	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.86	5.86	0.93980	.	0.063235	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.3756	0.90435	0.0:0.0:1.0:0.0	.	.	.	.	X	221;221;16;16	.	ENSP00000333363:G221X	G	+	1	0	DNAH8	38810314	1.000000	0.71417	0.306000	0.25113	0.826000	0.46750	7.271000	0.78506	2.780000	0.95670	0.585000	0.79938	GGA		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38759462	38759462	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38759462T>C	ENST00000359357.3	+	19	2504				DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Intron			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGCATTTGTTCATTAAATT	0.348																																					.												.	.	0			.	6						.						70.0	68.0	69.0					6																	38759462		2203	4300	6503	38867440	SO:0001627	intron_variant	1769	.			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2250+12T>C	6.37:g.38759462T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38867440	.	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Intron	SNP	ENST00000359357.3	37																																																																																					0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38825349	38825349	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38825349G>A	ENST00000359357.3	+	40	5392	c.5138G>A	c.(5137-5139)cGt>cAt	p.R1713H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1713H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1930H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1713					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1713H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGCTTTACGTAATGCAAAA	0.348																																					p.R1713H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5138A	6						.						108.0	106.0	106.0					6																	38825349		2203	4300	6503	38933327	SO:0001583	missense	1769	exon40			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5138G>A	6.37:g.38825349G>A	ENSP00000352312:p.Arg1713His	Somatic		Capture	Illumina HiSeq	Phase_I	38933327	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	11.48	1.651554	0.29336	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.8;1.79;1.77	5.91	2.16	0.27623	.	0.665977	0.15815	N	0.243291	T	0.05547	0.0146	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.41790	T	0.15	.	6.189	0.20513	0.4574:0.3461:0.1965:0.0	.	1713	Q96JB1	DYH8_HUMAN	H	1918;1918;1713;1713	ENSP00000333363:R1918H;ENSP00000352312:R1713H;ENSP00000402294:R1713H	ENSP00000333363:R1918H	R	+	2	0	DNAH8	38933327	0.000000	0.05858	0.859000	0.33776	0.987000	0.75469	-0.016000	0.12613	0.129000	0.18514	-0.294000	0.09567	CGT		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38834411	38834411	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38834411A>C	ENST00000359357.3	+	44	6146	c.5892A>C	c.(5890-5892)aaA>aaC	p.K1964N	DNAH8_ENST00000441566.1_Missense_Mutation_p.K1964N|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2181N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1964	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1964N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAACCTAAAAATCCAGTTTA	0.323																																					p.K1964N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5892C	6						.						75.0	75.0	75.0					6																	38834411		2203	4300	6503	38942389	SO:0001583	missense	1769	exon44			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5892A>C	6.37:g.38834411A>C	ENSP00000352312:p.Lys1964Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38942389	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.641651|3.641651	0.67244|0.67244	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|T	0.14266|0.14266	2.52;2.52;2.52|2.52	5.87|5.87	4.72|4.72	0.59763|0.59763	ATPase, AAA+ type, core (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.39009|0.39009	0.1062|0.1062	H|H	0.97806|0.97806	4.08|4.08	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.56195|0.56195	-0.8019|-0.8019	10|8	0.87932|0.87932	D|D	0|0	.|.	8.4673|8.4673	0.32964|0.32964	0.7935:0.0:0.2065:0.0|0.7935:0.0:0.2065:0.0	.|.	1964|.	Q96JB1|.	DYH8_HUMAN|.	N|T	2169;2169;1964;1964|46	ENSP00000333363:K2169N;ENSP00000352312:K1964N;ENSP00000402294:K1964N|ENSP00000377916:K46T	ENSP00000333363:K2169N|ENSP00000377916:K46T	K|K	+|+	3|2	2|0	DNAH8|DNAH8	38942389|38942389	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	0.860000|0.860000	0.27871|0.27871	1.150000|1.150000	0.42419|0.42419	-0.274000|-0.274000	0.10170|0.10170	AAA|AAA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38858431	38858431	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38858431T>G	ENST00000359357.3	+	56	8080	c.7826T>G	c.(7825-7827)aTt>aGt	p.I2609S	DNAH8_ENST00000441566.1_Missense_Mutation_p.I2573S|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2826S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2609	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2609S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTCAGGAATTATTGGATGT	0.368																																					p.I2609S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7826G	6						.						142.0	138.0	139.0					6																	38858431		2203	4300	6503	38966409	SO:0001583	missense	1769	exon56			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7826T>G	6.37:g.38858431T>G	ENSP00000352312:p.Ile2609Ser	Somatic		Capture	Illumina HiSeq	Phase_I	38966409	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	14.21	2.467200	0.43839	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.35236	1.32;1.32;1.32	6.03	6.03	0.97812	.	1.112640	0.06585	N	0.750959	T	0.04543	0.0124	N	0.00453	-1.485	0.32857	D	0.507483	B	0.10296	0.003	B	0.16722	0.016	T	0.17349	-1.0372	10	0.07813	T	0.8	.	15.1292	0.72507	0.0:0.0:0.0:1.0	.	2609	Q96JB1	DYH8_HUMAN	S	2814;2814;2609;2573	ENSP00000333363:I2814S;ENSP00000352312:I2609S;ENSP00000402294:I2573S	ENSP00000333363:I2814S	I	+	2	0	DNAH8	38966409	0.997000	0.39634	0.820000	0.32676	0.995000	0.86356	5.864000	0.69575	2.308000	0.77769	0.533000	0.62120	ATT		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38877531	38877531	+	Intron	SNP	T	T	G	rs183793272	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38877531T>G	ENST00000359357.3	+	63	9343				DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Intron			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTAAGTGATATTACATAAGCA	0.403																																					.												.	.	0			.	6						.						41.0	40.0	40.0					6																	38877531		2203	4300	6503	38985509	SO:0001627	intron_variant	1769	.			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9089+11T>G	6.37:g.38877531T>G		Somatic		Capture	Illumina HiSeq	Phase_I	38985509	.	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Intron	SNP	ENST00000359357.3	37																																																																																					0.403	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38899645	38899645	+	Missense_Mutation	SNP	C	C	T	rs373025624		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:38899645C>T	ENST00000359357.3	+	74	10936	c.10682C>T	c.(10681-10683)aCg>aTg	p.T3561M	DNAH8_ENST00000441566.1_Missense_Mutation_p.T3525M|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3778M|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3561	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T3561M(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACATTACTACGAAGTTACCA	0.338																																					p.T3561M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10682T	6						.	C	MET/THR	0,4406		0,0,2203	157.0	160.0	159.0		11333	5.7	0.7	6		159	1,8597	1.2+/-3.3	0,1,4298	no	missense	DNAH8	NM_001206927.1	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3778/4708	38899645	1,13003	2203	4299	6502	39007623	SO:0001583	missense	1769	exon74			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10682C>T	6.37:g.38899645C>T	ENSP00000352312:p.Thr3561Met	Somatic		Capture	Illumina HiSeq	Phase_I	39007623	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	19.84	3.901228	0.72754	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.30182	1.54;1.54;1.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	H	0.99842	4.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86715	0.1938	10	0.87932	D	0	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	3525;3561	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	M	3766;3766;3561;3525	ENSP00000333363:T3766M;ENSP00000352312:T3561M;ENSP00000402294:T3525M	ENSP00000333363:T3766M	T	+	2	0	DNAH8	39007623	1.000000	0.71417	0.684000	0.30055	0.404000	0.30871	7.434000	0.80377	2.868000	0.98415	0.557000	0.71058	ACG		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
KIF6	221458	broad.mit.edu	37	6	39507857	39507857	+	Nonsense_Mutation	SNP	G	G	A	rs145150015	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:39507857G>A	ENST00000287152.7	-	13	1661	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	KIF6_ENST00000373213.4_Nonsense_Mutation_p.R362*|KIF6_ENST00000373215.3_Nonsense_Mutation_p.R523*|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Nonsense_Mutation_p.R523*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	523					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R523*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAGGATAGTCGCATTCTTTGA	0.502																																					p.R523X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1567T	6						.						212.0	214.0	213.0					6																	39507857		2203	4300	6503	39615835	SO:0001587	stop_gained	221458	exon13			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1567C>T	6.37:g.39507857G>A	ENSP00000287152:p.Arg523*	Somatic		Capture	Illumina HiSeq	Phase_I	39615835	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Nonsense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405169	0.96051	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215	.	.	.	5.94	-2.72	0.05968	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.4138	0.21705	0.4455:0.1426:0.4119:0.0	.	.	.	.	X	523;523;362;523	.	ENSP00000287152:R523X	R	-	1	2	KIF6	39615835	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.340000	0.08388	-0.471000	0.05019	CGA		0.502	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
LRFN2	57497	broad.mit.edu	37	6	40400282	40400282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:40400282C>A	ENST00000338305.6	-	2	1113	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	191						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G191C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAAGGTGCCCTCGGCGATG	0.622																																					p.G191C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571T	6						.						82.0	84.0	84.0					6																	40400282		2203	4300	6503	40508260	SO:0001583	missense	57497	exon2			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.571G>T	6.37:g.40400282C>A	ENSP00000345985:p.Gly191Cys	Somatic		Capture	Illumina HiSeq	Phase_I	40508260	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007001	0.74932	.	.	ENSG00000156564	ENST00000338305	T	0.59224	0.28	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79593	-0.1739	10	0.87932	D	0	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	191	Q9ULH4	LRFN2_HUMAN	C	191	ENSP00000345985:G191C	ENSP00000345985:G191C	G	-	1	0	LRFN2	40508260	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GGC		0.622	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
UNC5CL	222643	broad.mit.edu	37	6	40998408	40998408	+	Silent	SNP	C	C	T	rs138860275		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:40998408C>T	ENST00000373164.1	-	6	1266	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Silent_p.P402P			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	402					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.P402P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCATGGGGGCGGCTGGGAAA	0.582																																					p.P402P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1206A	6						.	C		0,4406		0,0,2203	68.0	69.0	69.0		1206	-9.9	0.0	6	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC5CL	NM_173561.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		402/519	40998408	1,13005	2203	4300	6503	41106386	SO:0001819	synonymous_variant	222643	exon7			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1206G>A	6.37:g.40998408C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41106386	NM_173561	Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																				0.582	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
TREML1	340205	broad.mit.edu	37	6	41121518	41121518	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:41121518G>T	ENST00000426005.2	-	2	397	c.354C>A	c.(352-354)gtC>gtA	p.V118V	TREML1_ENST00000373127.4_Silent_p.V118V|TREML1_ENST00000437044.2_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	118	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.V118V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTCAGAGAGACTCTGTGCA	0.597																																					p.V118V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354A	6						.						50.0	56.0	54.0					6																	41121518		2203	4300	6503	41229496	SO:0001819	synonymous_variant	340205	exon2			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.354C>A	6.37:g.41121518G>T		Somatic		Capture	Illumina HiSeq	Phase_I	41229496	NM_178174	Q496B3|Q8IWY1|Q8IWY2	Silent	SNP	ENST00000426005.2	37	CCDS4851.1																																																																																				0.597	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174	
PGC	5225	broad.mit.edu	37	6	41704595	41704595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:41704595C>T	ENST00000373025.3	-	9	1224	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000403298.4_5'Flank|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000373033.1_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000358871.2_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	388					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.A388T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CAAGTCTAGGCGGCAGTGGCA	0.572																																					p.A388T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162A	6						.						129.0	104.0	112.0					6																	41704595		2203	4300	6503	41812573	SO:0001583	missense	5225	exon9				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1162G>A	6.37:g.41704595C>T	ENSP00000362116:p.Ala388Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41812573	NM_002630	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192673	0.58017	.	.	ENSG00000096088	ENST00000373025	T	0.59906	0.23	4.82	2.08	0.27032	Peptidase aspartic, catalytic (1);	0.494456	0.19947	N	0.102504	T	0.45637	0.1352	M	0.71206	2.165	0.09310	N	1	D	0.65815	0.995	P	0.50590	0.645	T	0.39542	-0.9609	10	0.72032	D	0.01	.	7.0737	0.25193	0.1396:0.7103:0.0:0.1501	.	388	P20142	PEPC_HUMAN	T	388	ENSP00000362116:A388T	ENSP00000362116:A388T	A	-	1	0	PGC	41812573	0.062000	0.20869	0.002000	0.10522	0.002000	0.02628	1.790000	0.38734	0.244000	0.21351	-0.310000	0.09108	GCC		0.572	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2		
PGC	5225	broad.mit.edu	37	6	41710170	41710170	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:41710170T>C	ENST00000373025.3	-	5	567	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	PGC_ENST00000425343.2_Missense_Mutation_p.T169A	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	169					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.T169A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACGAAGTTGGTACCAGGCTCA	0.572																																					p.T169A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A505G	6						.						155.0	109.0	125.0					6																	41710170		2203	4300	6503	41818148	SO:0001583	missense	5225	exon5				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.505A>G	6.37:g.41710170T>C	ENSP00000362116:p.Thr169Ala	Somatic		Capture	Illumina HiSeq	Phase_I	41818148	NM_002630	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	T	9.179	1.023204	0.19433	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.56941	0.43;0.43;0.43	4.82	-4.49	0.03504	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.692620	0.02971	N	0.144412	T	0.16257	0.0391	L	0.41710	1.295	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08249	-1.0731	10	0.51188	T	0.08	.	0.3768	0.00388	0.21:0.2036:0.2574:0.329	.	169	P20142	PEPC_HUMAN	A	169;90;90;169	ENSP00000362116:T169A;ENSP00000349094:T90A;ENSP00000405094:T169A	ENSP00000349094:T90A	T	-	1	0	PGC	41818148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.285000	0.08410	-1.042000	0.03262	-1.272000	0.01410	ACC		0.572	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2		
UBR2	23304	broad.mit.edu	37	6	42615888	42615888	+	Silent	SNP	C	C	T	rs371811763		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42615888C>T	ENST00000372899.1	+	22	2700	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	UBR2_ENST00000372883.3_Silent_p.I318I|UBR2_ENST00000372901.1_Silent_p.I814I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	814					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)	p.I814I(1)		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)			AGAGTGTAATCGAAGCAGTTG	0.353																																					p.I814I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2442T	6						.	C		1,4405	2.1+/-5.4	0,1,2202	284.0	252.0	263.0		2442	-0.7	0.9	6		263	0,8600		0,0,4300	no	coding-synonymous	UBR2	NM_015255.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		814/1756	42615888	1,13005	2203	4300	6503	42723866	SO:0001819	synonymous_variant	23304	exon22			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.2442C>T	6.37:g.42615888C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42723866	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																				0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	broad.mit.edu	37	6	42627579	42627579	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42627579T>G	ENST00000372899.1	+	30	3686	c.3428T>G	c.(3427-3429)tTt>tGt	p.F1143C	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.F1143C	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1143					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)	p.F1143C(1)		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)			AGAAGTAAATTTATTCAAGAT	0.368																																					p.F1143C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3428G	6						.						66.0	68.0	68.0					6																	42627579		2203	4300	6503	42735557	SO:0001583	missense	23304	exon30			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.3428T>G	6.37:g.42627579T>G	ENSP00000361990:p.Phe1143Cys	Somatic		Capture	Illumina HiSeq	Phase_I	42735557	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616942	0.28801	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.42513	0.97;0.97	5.56	1.52	0.23074	Zinc finger, RING-type (1);	0.828973	0.11402	N	0.567726	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	0.99999	B;B	0.32031	0.352;0.078	B;B	0.34242	0.178;0.111	T	0.29397	-1.0013	10	0.38643	T	0.18	-8.3658	4.6027	0.12361	0.1202:0.0666:0.1257:0.6875	.	1143;1143	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	C	1143	ENSP00000361990:F1143C;ENSP00000361992:F1143C	ENSP00000361990:F1143C	F	+	2	0	UBR2	42735557	0.097000	0.21791	0.847000	0.33407	0.975000	0.68041	0.627000	0.24506	0.019000	0.15079	0.379000	0.24179	TTT		0.368	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
TBCC	6903	broad.mit.edu	37	6	42712883	42712883	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42712883C>A	ENST00000372876.1	-	1	951	c.929G>T	c.(928-930)aGg>aTg	p.R310M	TBCC_ENST00000244625.2_Missense_Mutation_p.R310M	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	310	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.R310M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			ATTTTTGCTCCTATCTAAACC	0.522																																					p.R310M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929T	6						.						111.0	104.0	106.0					6																	42712883		2203	4300	6503	42820861	SO:0001583	missense	6903	exon1			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.929G>T	6.37:g.42712883C>A	ENSP00000361967:p.Arg310Met	Somatic		Capture	Illumina HiSeq	Phase_I	42820861	NM_003192	Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024817	0.75390	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86865	-2.18;-2.18	5.14	4.27	0.50696	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.105610	0.64402	D	0.000012	D	0.87565	0.6209	M	0.77616	2.38	0.50039	D	0.999847	P	0.48294	0.908	P	0.51516	0.672	D	0.87876	0.2674	10	0.48119	T	0.1	-1.2613	13.9681	0.64221	0.0:0.9265:0.0:0.0735	.	310	Q15814	TBCC_HUMAN	M	310	ENSP00000361967:R310M;ENSP00000244625:R310M	ENSP00000244625:R310M	R	-	2	0	TBCC	42820861	0.240000	0.23847	0.997000	0.53966	0.996000	0.88848	1.472000	0.35376	1.302000	0.44855	0.467000	0.42956	AGG		0.522	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192	
RPL7L1	285855	broad.mit.edu	37	6	42851362	42851362	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42851362T>C	ENST00000493763.1	+	3	587				RPL7L1_ENST00000397415.3_Intron|RPL7L1_ENST00000602561.1_Intron|RPL7L1_ENST00000304734.5_Intron|RPL7L1_ENST00000424341.2_Intron	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1							ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GGTAAGGAACTGGTGTCTTTC	0.463																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						75.0	73.0	74.0					6																	42851362		2203	4300	6503	42959340	SO:0001627	intron_variant	285855	.				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.284+10T>C	6.37:g.42851362T>C		Somatic		Capture	Illumina HiSeq	Phase_I	42959340	.	A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Intron	SNP	ENST00000493763.1	37	CCDS4873.1																																																																																				0.463	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314417.1	XM_209769	
PTCRA	171558	broad.mit.edu	37	6	42893335	42893335	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42893335G>T	ENST00000304672.1	+	4	842	c.761G>T	c.(760-762)aGa>aTa	p.R254I	PTCRA_ENST00000441198.1_Missense_Mutation_p.R229I|PTCRA_ENST00000446507.1_Missense_Mutation_p.R147I	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	254					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)		p.R254I(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGCTCAAGATCTGCCCTC	0.632																																					p.R254I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761T	6						.						35.0	29.0	31.0					6																	42893335		2200	4297	6497	43001313	SO:0001583	missense	171558	exon4			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.761G>T	6.37:g.42893335G>T	ENSP00000304447:p.Arg254Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43001313	NM_138296	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342818	0.41498	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507;ENST00000418903	T;T;T	0.55760	1.18;1.15;0.5	3.93	1.92	0.25849	.	.	.	.	.	T	0.20700	0.0498	N	0.14661	0.345	0.09310	N	1	D;P;P	0.53151	0.958;0.908;0.539	P;B;B	0.47744	0.556;0.272;0.175	T	0.03863	-1.0997	9	0.62326	D	0.03	.	4.6689	0.12680	0.1246:0.2268:0.6486:0.0	.	147;229;254	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	I	254;229;147;100	ENSP00000304447:R254I;ENSP00000409550:R229I;ENSP00000392288:R147I	ENSP00000304447:R254I	R	+	2	0	PTCRA	43001313	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	0.171000	0.16685	0.958000	0.37956	0.655000	0.94253	AGA		0.632	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296	
MEA1	4201	broad.mit.edu	37	6	42981069	42981069	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:42981069G>T	ENST00000244711.3	-	2	241	c.87C>A	c.(85-87)atC>atA	p.I29I	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	29					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.I29I(1)		central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATTGGGGAAGATACGCTCAG	0.587																																					p.I29I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87A	6						.						98.0	96.0	96.0					6																	42981069		2203	4300	6503	43089047	SO:0001819	synonymous_variant	4201	exon2				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.87C>A	6.37:g.42981069G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43089047	NM_014623	Q5TC36|Q9BV01	Silent	SNP	ENST00000244711.3	37	CCDS4879.1																																																																																				0.587	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2		
PTK7	5754	broad.mit.edu	37	6	43097542	43097542	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43097542C>T	ENST00000230419.4	+	3	666	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	PTK7_ENST00000349241.2_Missense_Mutation_p.R149C|PTK7_ENST00000352931.2_Missense_Mutation_p.R149C|PTK7_ENST00000471863.1_Missense_Mutation_p.R149C|PTK7_ENST00000481273.1_Missense_Mutation_p.R157C|PTK7_ENST00000345201.2_Missense_Mutation_p.R149C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	149	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R149C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTCACACTTCGTTGCCACAT	0.572											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R149C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445T	6						.						102.0	82.0	88.0					6																	43097542		2203	4300	6503	43205520	SO:0001583	missense	5754	exon3			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.445C>T	6.37:g.43097542C>T	ENSP00000230419:p.Arg149Cys	Somatic	913	Capture	Illumina HiSeq	Phase_I	43205520	NM_152882	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526113	0.85600	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.66	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.154450	0.64402	D	0.000014	T	0.24547	0.0595	M	0.64260	1.97	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.79784	0.959;0.944;0.984;0.91;0.993;0.993	T	0.02526	-1.1146	10	0.72032	D	0.01	.	14.6709	0.68942	0.0:0.9304:0.0:0.0696	.	157;149;149;149;149;149	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	C	149;149;149;149;149;157;157	ENSP00000230419:R149C;ENSP00000419037:R149C;ENSP00000325462:R149C;ENSP00000326029:R149C;ENSP00000325992:R149C;ENSP00000418754:R157C	ENSP00000230418:R149C	R	+	1	0	PTK7	43205520	1.000000	0.71417	0.286000	0.24833	0.925000	0.55904	3.493000	0.53266	1.400000	0.46741	0.563000	0.77884	CGT		0.572	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
CUL9	23113	broad.mit.edu	37	6	43156416	43156416	+	Missense_Mutation	SNP	C	C	T	rs571511276		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43156416C>T	ENST00000252050.4	+	8	2227	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	CUL9_ENST00000372647.2_Missense_Mutation_p.R715W|CUL9_ENST00000354495.3_Missense_Mutation_p.R605W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	715					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R715W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTCACTGAGCGGGACCACCC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19236	0.0		0.0	False		,,,				2504	0.001				p.R715W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2143T	6						.						79.0	70.0	73.0					6																	43156416		2203	4300	6503	43264394	SO:0001583	missense	23113	exon8			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2143C>T	6.37:g.43156416C>T	ENSP00000252050:p.Arg715Trp	Somatic		Capture	Illumina HiSeq	Phase_I	43264394	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247840	0.59103	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74315	-0.82;-0.83;-0.71	4.75	3.84	0.44239	Armadillo-type fold (1);	0.544709	0.17301	N	0.179245	T	0.41259	0.1151	N	0.12182	0.205	0.33371	D	0.573589	P;P	0.51537	0.946;0.946	B;B	0.40565	0.333;0.333	T	0.47947	-0.9077	10	0.72032	D	0.01	-10.0355	11.1966	0.48717	0.1843:0.8157:0.0:0.0	.	715;715	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	W	715;605;715	ENSP00000252050:R715W;ENSP00000346490:R605W;ENSP00000361730:R715W	ENSP00000252050:R715W	R	+	1	2	CUL9	43264394	0.998000	0.40836	0.996000	0.52242	0.942000	0.58702	1.208000	0.32345	1.134000	0.42165	0.563000	0.77884	CGG		0.587	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
TTBK1	84630	broad.mit.edu	37	6	43225609	43225609	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43225609C>A	ENST00000259750.4	+	10	1004	c.921C>A	c.(919-921)gcC>gcA	p.A307A	TTBK1_ENST00000304139.5_Silent_p.A256A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	307					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A307A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGAATGAGGCCTTTGACTGGG	0.597																																					p.A307A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921A	6						.						125.0	110.0	115.0					6																	43225609		2203	4300	6503	43333587	SO:0001819	synonymous_variant	84630	exon10			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.921C>A	6.37:g.43225609C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43333587	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	CCDS34455.1																																																																																				0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
ABCC10	89845	broad.mit.edu	37	6	43406463	43406463	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43406463T>G	ENST00000372530.4	+	8	2272	c.2057T>G	c.(2056-2058)tTt>tGt	p.F686C	ABCC10_ENST00000244533.3_Missense_Mutation_p.F658C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	686	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F658C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AACATCCTCTTTGGGAAGACA	0.572																																					p.F686C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2057G	6						.						133.0	119.0	124.0					6																	43406463		2203	4300	6503	43514441	SO:0001583	missense	89845	exon8			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2057T>G	6.37:g.43406463T>G	ENSP00000361608:p.Phe686Cys	Somatic		Capture	Illumina HiSeq	Phase_I	43514441	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713381	0.89112	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.91011	-2.77;-2.77;-2.77	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.926;1.0	D	0.96607	0.9449	10	0.87932	D	0	-34.6361	15.8088	0.78538	0.0:0.0:0.0:1.0	.	658;686	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	242;686;658	ENSP00000361593:F242C;ENSP00000361608:F686C;ENSP00000244533:F658C	ENSP00000244533:F658C	F	+	2	0	ABCC10	43514441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	2.133000	0.65898	0.533000	0.62120	TTT		0.572	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
ABCC10	89845	broad.mit.edu	37	6	43416887	43416887	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43416887C>A	ENST00000372530.4	+	20	4363	c.4148C>A	c.(4147-4149)tCt>tAt	p.S1383Y	ABCC10_ENST00000244533.3_Missense_Mutation_p.S1355Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1383	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S1355Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CGGAGCTTATCTCTTGGGCAG	0.577																																					p.S1383Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4148A	6						.						105.0	103.0	104.0					6																	43416887		2203	4300	6503	43524865	SO:0001583	missense	89845	exon20			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4148C>A	6.37:g.43416887C>A	ENSP00000361608:p.Ser1383Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43524865	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896173	0.91962	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.98862	-5.19;-5.19	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97760	1.0220	10	0.87932	D	0	-18.2092	19.3083	0.94173	0.0:1.0:0.0:0.0	.	1355;1383	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	1383;1355;139	ENSP00000361608:S1383Y;ENSP00000244533:S1355Y	ENSP00000244533:S1355Y	S	+	2	0	ABCC10	43524865	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.794000	0.85869	2.588000	0.87417	0.585000	0.79938	TCT		0.577	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
RSPH9	221421	broad.mit.edu	37	6	43623316	43623316	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:43623316G>T	ENST00000372163.4	+	3	464	c.411G>T	c.(409-411)gaG>gaT	p.E137D	RSPH9_ENST00000372165.4_Intron	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	137					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.E137D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCAAGGAAGAGACCCGCTTGG	0.617									Kartagener syndrome																												p.E137D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G411T	6						.						111.0	113.0	112.0					6																	43623316		2203	4300	6503	43731294	SO:0001583	missense	221421	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.411G>T	6.37:g.43623316G>T	ENSP00000361236:p.Glu137Asp	Somatic		Capture	Illumina HiSeq	Phase_I	43731294	NM_152732	A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.571846|3.571846	0.65765|0.65765	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372163;ENST00000372154	.|T	.|0.48836	.|0.8	5.36|5.36	2.15|2.15	0.27550|0.27550	.|.	.|.	.|.	.|.	.|.	T|T	0.60856|0.60856	0.2301|0.2301	M|M	0.88570|0.88570	2.965|2.965	0.44409|0.44409	D|D	0.99732|0.99732	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.64668|0.64668	-0.6353|-0.6353	5|9	.|0.46703	.|T	.|0.11	.|.	10.148|10.148	0.42776|0.42776	0.2648:0.0:0.7352:0.0|0.2648:0.0:0.7352:0.0	.|.	.|137	.|Q9H1X1	.|RSPH9_HUMAN	Y|D	62|137;105	.|ENSP00000361236:E137D	.|ENSP00000361227:E105D	D|E	+|+	1|3	0|2	RSPH9|RSPH9	43731294|43731294	0.988000|0.988000	0.35896|0.35896	0.995000|0.995000	0.50966|0.50966	0.911000|0.911000	0.54048|0.54048	1.155000|1.155000	0.31700|0.31700	0.635000|0.635000	0.30488|0.30488	0.591000|0.591000	0.81541|0.81541	GAC|GAG		0.617	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732	
MRPL14	64928	broad.mit.edu	37	6	44081706	44081706	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44081706G>A	ENST00000372014.3	-	3	443	c.312C>T	c.(310-312)aaC>aaT	p.N104N		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	104					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.N104N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TGAGGACCACGTTGTTGGAGT	0.572																																					p.N104N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	6						.						90.0	92.0	91.0					6																	44081706		2203	4300	6503	44189684	SO:0001819	synonymous_variant	64928	exon3			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.312C>T	6.37:g.44081706G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44189684	NM_032111	B2R575|Q96Q72	Silent	SNP	ENST00000372014.3	37	CCDS34460.1																																																																																				0.572	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111	
TMEM63B	55362	broad.mit.edu	37	6	44122146	44122146	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44122146A>G	ENST00000259746.9	+	23	2454	c.2271A>G	c.(2269-2271)ggA>ggG	p.G757G	TMEM63B_ENST00000323267.6_Silent_p.G757G			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	757					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.G757G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GAAGCAATGGACGGCCCCCCA	0.597																																					p.G757G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2271G	6						.						111.0	114.0	113.0					6																	44122146		2203	4300	6503	44230124	SO:0001819	synonymous_variant	55362	exon23			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2271A>G	6.37:g.44122146A>G		Somatic		Capture	Illumina HiSeq	Phase_I	44230124	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132318	0.21041	.	.	ENSG00000137216	ENST00000371893	.	.	.	4.99	-6.39	0.01951	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.46857	-0.9161	4	.	.	.	.	3.472	0.07570	0.1546:0.495:0.106:0.2444	.	.	.	.	G	686	.	.	D	+	2	0	TMEM63B	44230124	0.949000	0.32298	0.973000	0.42090	0.908000	0.53690	0.022000	0.13511	-0.380000	0.07894	-0.477000	0.04895	GAC		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
CAPN11	11131	broad.mit.edu	37	6	44147373	44147373	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44147373G>T	ENST00000398776.1	+	13	1466				CAPN11_ENST00000542245.1_Intron	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11						proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.?(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGAGGTACAGAAGATAAAGA	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						114.0	109.0	110.0					6																	44147373		1895	4119	6014	44255351	SO:0001627	intron_variant	11131	.			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1428+6G>T	6.37:g.44147373G>T		Somatic		Capture	Illumina HiSeq	Phase_I	44255351	.	B2RA64|Q5T3G1|Q8N4R5	Intron	SNP	ENST00000398776.1	37	CCDS47436.1																																																																																				0.537	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
HSP90AB1	3326	broad.mit.edu	37	6	44221232	44221232	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44221232A>G	ENST00000371554.1	+	12	2286	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G	MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D691G|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D691G|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	691					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.D691G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGGTATTGATGAAGATGAA	0.478											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D691G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2072G	6						.						76.0	77.0	77.0					6																	44221232		2203	4300	6503	44329210	SO:0001583	missense	3326	exon12			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2072A>G	6.37:g.44221232A>G	ENSP00000360609:p.Asp691Gly	Somatic	922	Capture	Illumina HiSeq	Phase_I	44329210	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201295	0.79015	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.13420	2.59;2.59;2.59	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000001	T	0.37705	0.1013	M	0.94063	3.49	0.80722	D	1	B;B;D	0.67145	0.089;0.022;0.996	B;B;D	0.70016	0.139;0.104;0.967	T	0.54801	-0.8239	10	0.72032	D	0.01	-29.3188	13.973	0.64252	1.0:0.0:0.0:0.0	.	653;681;691	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	G	691	ENSP00000360709:D691G;ENSP00000325875:D691G;ENSP00000360609:D691G	ENSP00000325875:D691G	D	+	2	0	HSP90AB1	44329210	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.291000	0.96070	1.776000	0.52262	0.496000	0.49642	GAT		0.478	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
NFKBIE	4794	broad.mit.edu	37	6	44228214	44228214	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44228214G>A	ENST00000275015.5	-	4	1170	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	391					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)		p.R391W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCCATTCCGAAGCAGCAAT	0.597																																					p.R391W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	6						.						170.0	160.0	164.0					6																	44228214		2203	4300	6503	44336192	SO:0001583	missense	4794	exon4			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1171C>T	6.37:g.44228214G>A	ENSP00000275015:p.Arg391Trp	Somatic		Capture	Illumina HiSeq	Phase_I	44336192	NM_004556	Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512599	0.64522	.	.	ENSG00000146232	ENST00000275015	T	0.65364	-0.15	5.05	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.519943	0.18869	N	0.128887	T	0.39655	0.1086	L	0.48218	1.51	0.21020	N	0.999801	P	0.51057	0.941	B	0.43360	0.417	T	0.26155	-1.0111	10	0.72032	D	0.01	-33.964	9.2565	0.37586	0.0:0.1777:0.6661:0.1562	.	391	O00221	IKBE_HUMAN	W	391	ENSP00000275015:R391W	ENSP00000275015:R391W	R	-	1	2	NFKBIE	44336192	1.000000	0.71417	0.982000	0.44146	0.953000	0.61014	2.570000	0.45981	1.077000	0.40990	0.655000	0.94253	CGG		0.597	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2		
TCTE1	202500	broad.mit.edu	37	6	44248082	44248082	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44248082G>T	ENST00000371505.4	-	5	1464	c.1342C>A	c.(1342-1344)Ctc>Atc	p.L448I	TCTE1_ENST00000371503.3_Missense_Mutation_p.L145I|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L145I|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	448								p.L448I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATTCCAGGAGGGTCTTGTTG	0.577																																					p.L448I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1342A	6						.						84.0	79.0	80.0					6																	44248082		2203	4300	6503	44356060	SO:0001583	missense	202500	exon5			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1342C>A	6.37:g.44248082G>T	ENSP00000360560:p.Leu448Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44356060	NM_182539	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043142	0.55003	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.71341	-0.56;0.78;0.78	4.45	2.38	0.29361	.	0.393317	0.23999	N	0.042483	T	0.23451	0.0567	N	0.04508	-0.205	0.29633	N	0.845282	B	0.17038	0.02	B	0.15052	0.012	T	0.06917	-1.0800	10	0.87932	D	0	-19.9165	3.5266	0.07761	0.0852:0.2116:0.4457:0.2575	.	448	Q5JU00	TCTE1_HUMAN	I	448;145;145	ENSP00000360560:L448I;ENSP00000360558:L145I;ENSP00000360559:L145I	ENSP00000360558:L145I	L	-	1	0	TCTE1	44356060	0.836000	0.29430	1.000000	0.80357	0.979000	0.70002	0.031000	0.13710	1.107000	0.41642	0.563000	0.77884	CTC		0.577	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
AARS2	57505	broad.mit.edu	37	6	44268931	44268931	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44268931G>A	ENST00000244571.4	-	21	2757	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.P919S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCCCATGGGCTGGGGGCTG	0.632																																					p.P919S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2755T	6						.						44.0	50.0	48.0					6																	44268931		2203	4300	6503	44376909	SO:0001583	missense	57505	exon21			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2755C>T	6.37:g.44268931G>A	ENSP00000244571:p.Pro919Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44376909	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881577	0.02530	.	.	ENSG00000124608	ENST00000244571	T	0.61859	0.07	6.07	2.04	0.26737	.	0.450136	0.24717	N	0.036170	T	0.17874	0.0429	L	0.42245	1.32	0.19300	N	0.999979	B	0.26318	0.146	B	0.22152	0.038	T	0.22487	-1.0215	10	0.09843	T	0.71	-10.5535	4.8221	0.13396	0.1417:0.3288:0.4337:0.0958	.	919	Q5JTZ9	SYAM_HUMAN	S	919	ENSP00000244571:P919S	ENSP00000244571:P919S	P	-	1	0	AARS2	44376909	0.995000	0.38212	0.895000	0.35142	0.083000	0.17756	1.221000	0.32503	0.440000	0.26502	-0.797000	0.03246	CCC		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
CDC5L	988	broad.mit.edu	37	6	44390551	44390551	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44390551A>G	ENST00000371477.3	+	10	1703					NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like						cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGATGGTAAATGTCAATTCC	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						104.0	104.0	104.0					6																	44390551		2203	4300	6503	44498529	SO:0001627	intron_variant	988	.			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1404+5A>G	6.37:g.44390551A>G		Somatic		Capture	Illumina HiSeq	Phase_I	44498529	.	Q76N46|Q99974	Intron	SNP	ENST00000371477.3	37	CCDS4912.1																																																																																				0.353	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
SUPT3H	8464	broad.mit.edu	37	6	44929547	44929547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:44929547G>A	ENST00000371459.1	-	7	688	c.523C>T	c.(523-525)Cga>Tga	p.R175*	SUPT3H_ENST00000371461.2_Nonsense_Mutation_p.R186*|SUPT3H_ENST00000306867.5_Nonsense_Mutation_p.R175*|SUPT3H_ENST00000371460.1_Nonsense_Mutation_p.R186*	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	257					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.R186*(2)|p.R175*(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCCATAATTCGAGTTTGTCTT	0.274																																					p.R186X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C556T	6						.						73.0	77.0	75.0					6																	44929547		2203	4292	6495	45037525	SO:0001587	stop_gained	8464	exon9			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.523C>T	6.37:g.44929547G>A	ENSP00000360514:p.Arg175*	Somatic		Capture	Illumina HiSeq	Phase_I	45037525	NM_181356	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Nonsense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512697	0.96402	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	.	.	.	5.69	4.8	0.61643	.	0.060228	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.811	0.78565	0.0:0.0:0.8629:0.1371	.	.	.	.	X	186;175;175;186	.	ENSP00000306718:R175X	R	-	1	2	SUPT3H	45037525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.825000	0.62708	1.351000	0.45789	0.585000	0.79938	CGA		0.274	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
CYP39A1	51302	broad.mit.edu	37	6	46521598	46521598	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:46521598G>T	ENST00000275016.2	-	11	1454					NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.?(2)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCACCTGGAAGAAACGAATAA	0.328																																					.												.	.	2	Unknown(2)	large_intestine(1)|lung(1)	.	6						.						33.0	37.0	36.0					6																	46521598		2201	4294	6495	46629557	SO:0001627	intron_variant	51302	.			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1251-7C>A	6.37:g.46521598G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46629557	.	Q5VTT0|Q96FW5	Intron	SNP	ENST00000275016.2	37	CCDS4916.1																																																																																				0.328	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1		
TDRD6	221400	broad.mit.edu	37	6	46659045	46659045	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:46659045G>A	ENST00000316081.6	+	1	3180	c.3180G>A	c.(3178-3180)aaG>aaA	p.K1060K	TDRD6_ENST00000544460.1_Silent_p.K1060K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1060	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.K1060K(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGAGCCAAAGAAAGTCTTCT	0.383																																					p.K1060K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3180A	6						.						89.0	93.0	91.0					6																	46659045		2203	4300	6503	46767004	SO:0001819	synonymous_variant	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3180G>A	6.37:g.46659045G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46767004	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TDRD6	221400	broad.mit.edu	37	6	46659800	46659800	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:46659800C>A	ENST00000316081.6	+	1	3935	c.3935C>A	c.(3934-3936)tCt>tAt	p.S1312Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1312Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1312					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.S1312Y(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATATGTTTCTCATATAAAT	0.328																																					p.S1312Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3935A	6						.						45.0	49.0	48.0					6																	46659800		2202	4297	6499	46767759	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3935C>A	6.37:g.46659800C>A	ENSP00000346065:p.Ser1312Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	46767759	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662209	0.67700	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12147	2.71;2.71	5.95	5.95	0.96441	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45818	-0.9235	10	0.87932	D	0	-7.1569	20.3854	0.98941	0.0:1.0:0.0:0.0	.	1312;1312	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1312	ENSP00000443299:S1312Y;ENSP00000346065:S1312Y	ENSP00000346065:S1312Y	S	+	2	0	TDRD6	46767759	1.000000	0.71417	0.989000	0.46669	0.693000	0.40251	7.372000	0.79612	2.825000	0.97269	0.655000	0.94253	TCT		0.328	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
MEP1A	4224	broad.mit.edu	37	6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507																																					p.R402H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1205A	6						.						82.0	83.0	82.0					6																	46800871		2203	4300	6503	46908830	SO:0001583	missense	4224	exon11				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1205G>A	6.37:g.46800871G>A	ENSP00000230588:p.Arg402His	Somatic		Capture	Illumina HiSeq	Phase_I	46908830	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254006	0.95336	.	.	ENSG00000112818	ENST00000230588	T	0.02301	4.35	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.87932	D	0	-21.1973	19.5623	0.95376	0.0:0.0:1.0:0.0	.	430;402	B7ZL91;Q16819	.;MEP1A_HUMAN	H	402	ENSP00000230588:R402H	ENSP00000230588:R402H	R	+	2	0	MEP1A	46908830	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	CGC		0.507	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
TNFRSF21	27242	broad.mit.edu	37	6	47221018	47221018	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47221018G>A	ENST00000296861.2	-	4	1876	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	495	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.R495C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ATCAGCCCACGAATCTTCTCC	0.557																																					p.R495C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1483T	6						.						55.0	42.0	47.0					6																	47221018		2203	4300	6503	47328977	SO:0001583	missense	27242	exon4			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1483C>T	6.37:g.47221018G>A	ENSP00000296861:p.Arg495Cys	Somatic		Capture	Illumina HiSeq	Phase_I	47328977	NM_014452	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889174	0.91889	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.85629	-2.01	6.16	6.16	0.99307	Death (3);DEATH-like (2);	0.045688	0.85682	D	0.000000	D	0.84687	0.5527	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.87114	0.2187	10	0.87932	D	0	.	16.0258	0.80545	0.0:0.0:0.865:0.135	.	495	O75509	TNR21_HUMAN	C	495;184	ENSP00000296861:R495C	ENSP00000296861:R495C	R	-	1	0	TNFRSF21	47328977	1.000000	0.71417	0.879000	0.34478	0.990000	0.78478	4.448000	0.60027	2.937000	0.99478	0.650000	0.86243	CGT		0.557	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452	
CD2AP	23607	broad.mit.edu	37	6	47471073	47471073	+	Missense_Mutation	SNP	G	G	A	rs559978848	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47471073G>A	ENST00000359314.5	+	2	518	c.62G>A	c.(61-63)cGa>cAa	p.R21Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	21	Interaction with ANLN and localization to the midbody.|SH3 1; truncated. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.R21Q(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTAACTATTCGAGTTGGAGAA	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		16202	0.0		0.0	False		,,,				2504	0.0031				p.R21Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62A	6						.						144.0	137.0	139.0					6																	47471073		2203	4300	6503	47579032	SO:0001583	missense	23607	exon2			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.62G>A	6.37:g.47471073G>A	ENSP00000352264:p.Arg21Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47579032	NM_012120	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797985	0.90538	.	.	ENSG00000198087	ENST00000359314	T	0.47528	0.84	4.68	4.68	0.58851	Src homology-3 domain (4);	0.480058	0.21810	N	0.068798	T	0.48187	0.1486	L	0.33245	0.995	0.50313	D	0.999861	D	0.89917	1.0	D	0.87578	0.998	T	0.38866	-0.9641	10	0.25751	T	0.34	-7.553	17.61	0.88050	0.0:0.0:1.0:0.0	.	21	Q9Y5K6	CD2AP_HUMAN	Q	21	ENSP00000352264:R21Q	ENSP00000352264:R21Q	R	+	2	0	CD2AP	47579032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.810000	0.62598	2.135000	0.66039	0.655000	0.94253	CGA		0.378	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
CD2AP	23607	broad.mit.edu	37	6	47501423	47501423	+	Missense_Mutation	SNP	G	G	A	rs371293071		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47501423G>A	ENST00000359314.5	+	3	707	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	84	Interaction with ANLN and localization to the midbody.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.R84Q(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTTGTACAACGAATAAGCACC	0.393																																					p.R84Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	6						.	G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	98.0	90.0	93.0		251	5.6	1.0	6		93	0,8600		0,0,4300	no	missense	CD2AP	NM_012120.2	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	84/640	47501423	4,13002	2203	4300	6503	47609382	SO:0001583	missense	23607	exon3			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.251G>A	6.37:g.47501423G>A	ENSP00000352264:p.Arg84Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47609382	NM_012120	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179942	0.94846	9.08E-4	0.0	ENSG00000198087	ENST00000359314	T	0.26660	1.72	5.57	5.57	0.84162	Src homology-3 domain (1);	0.972401	0.08517	N	0.934006	T	0.38852	0.1056	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.71656	0.974	T	0.09997	-1.0649	10	0.12766	T	0.61	-10.2262	17.734	0.88387	0.0:0.0:1.0:0.0	.	84	Q9Y5K6	CD2AP_HUMAN	Q	84	ENSP00000352264:R84Q	ENSP00000352264:R84Q	R	+	2	0	CD2AP	47609382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	2.623000	0.88846	0.557000	0.71058	CGA		0.393	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
CD2AP	23607	broad.mit.edu	37	6	47512442	47512442	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47512442G>T	ENST00000359314.5	+	4	876	c.420G>T	c.(418-420)gaG>gaT	p.E140D		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	140	Interaction with ANLN and localization to the midbody.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.E140D(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTAATGAAGAGGTAAGGAAAA	0.318																																					p.E140D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G420T	6						.						86.0	87.0	87.0					6																	47512442		2203	4297	6500	47620401	SO:0001630	splice_region_variant	23607	exon4			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.420+1G>T	6.37:g.47512442G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47620401	NM_012120	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348985	0.95807	.	.	ENSG00000198087	ENST00000359314	T	0.52754	0.65	5.58	5.58	0.84498	Src homology-3 domain (3);Variant SH3 (1);	0.147835	0.64402	D	0.000013	T	0.46132	0.1377	N	0.25031	0.7	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	T	0.48364	-0.9042	10	0.52906	T	0.07	-18.5787	18.3289	0.90262	0.0:0.0:1.0:0.0	.	140	Q9Y5K6	CD2AP_HUMAN	D	140	ENSP00000352264:E140D	ENSP00000352264:E140D	E	+	3	2	CD2AP	47620401	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.535000	0.90623	2.623000	0.88846	0.655000	0.94253	GAG		0.318	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Missense_Mutation
GPR111	222611	broad.mit.edu	37	6	47649193	47649193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47649193G>T	ENST00000296862.1	+	6	898	c.898G>T	c.(898-900)Gat>Tat	p.D300Y	GPR111_ENST00000398742.2_Missense_Mutation_p.D232Y|GPR111_ENST00000507065.1_Missense_Mutation_p.D232Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	300					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D300Y(1)|p.D232Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CATATCTGGAGATAACATTGG	0.378																																					p.D232Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G694T	6						.						121.0	113.0	115.0					6																	47649193		1874	4117	5991	47757152	SO:0001583	missense	222611	exon7			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.898G>T	6.37:g.47649193G>T	ENSP00000296862:p.Asp300Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	47757152	NM_153839	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	G	12.87	2.068000	0.36470	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.37058	1.99;1.96;1.22	5.19	2.18	0.27775	.	0.481828	0.20580	N	0.089550	T	0.29126	0.0724	M	0.62723	1.935	0.09310	N	1	D;D	0.58970	0.983;0.984	P;P	0.56823	0.807;0.73	T	0.12041	-1.0563	10	0.87932	D	0	.	5.604	0.17369	0.2753:0.1434:0.5813:0.0	.	232;300	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	Y	232;300;232	ENSP00000422934:D232Y;ENSP00000296862:D300Y;ENSP00000381727:D232Y	ENSP00000296862:D300Y	D	+	1	0	GPR111	47757152	0.311000	0.24536	0.001000	0.08648	0.895000	0.52256	1.401000	0.34589	0.129000	0.18514	0.579000	0.79373	GAT		0.378	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
OPN5	221391	broad.mit.edu	37	6	47759709	47759709	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47759709G>A	ENST00000371211.2	+	3	449		c.e3+1		OPN5_ENST00000393699.2_Splice_Site|OPN5_ENST00000489301.2_Splice_Site|OPN5_ENST00000244799.4_Splice_Site	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.?(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TTATCTTATGGTAAGTTGGCA	0.383																																					.	Melanoma(28;740 973 10870 42660 45347)											.	.	1	Unknown(1)	large_intestine(1)	.	6						.						89.0	80.0	83.0					6																	47759709		2203	4300	6503	47867668	SO:0001630	splice_region_variant	221391	.			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.421+1G>A	6.37:g.47759709G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47867668	.	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Splice_Site	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436208	0.83885	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9494	0.92636	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPN5	47867668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.480000	0.83734	0.591000	0.81541	.		0.383	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	Intron
PTCHD4	442213	broad.mit.edu	37	6	47846112	47846112	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47846112G>T	ENST00000339488.4	-	3	2501	c.2468C>A	c.(2467-2469)gCc>gAc	p.A823D		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	823						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.A823D(1)									CTTTCGCTTGGCACGTTTCTT	0.438																																					p.A823D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2468A	6						.						140.0	140.0	140.0					6																	47846112		2203	4300	6503	47954071	SO:0001583	missense	442213	exon3				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2468C>A	6.37:g.47846112G>T	ENSP00000341914:p.Ala823Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47954071	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155153	0.38021	.	.	ENSG00000244694	ENST00000339488	D	0.92299	-3.01	6.16	6.16	0.99307	.	0.180038	0.47852	D	0.000210	T	0.81931	0.4927	N	0.14661	0.345	0.80722	D	1	P	0.48694	0.914	B	0.43623	0.425	T	0.81822	-0.0756	10	0.12766	T	0.61	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	823	Q6ZW05	CF138_HUMAN	D	823	ENSP00000341914:A823D	ENSP00000341914:A823D	A	-	2	0	C6orf138	47954071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.102000	0.94226	2.937000	0.99478	0.650000	0.86243	GCC		0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
PTCHD4	442213	broad.mit.edu	37	6	47976675	47976675	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:47976675A>C	ENST00000339488.4	-	2	635	c.602T>G	c.(601-603)cTt>cGt	p.L201R	PTCHD4_ENST00000543600.1_Missense_Mutation_p.L184R	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	201						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.L201R(1)									CTTCCTTATAAGCTTACAGAA	0.498																																					p.L201R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T602G	6						.						54.0	52.0	53.0					6																	47976675		1872	4123	5995	48084634	SO:0001583	missense	442213	exon2				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.602T>G	6.37:g.47976675A>C	ENSP00000341914:p.Leu201Arg	Somatic		Capture	Illumina HiSeq	Phase_I	48084634	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809420	0.70797	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;D	0.86956	-2.19;-2.19	6.16	6.16	0.99307	.	0.268779	0.37178	N	0.002215	D	0.89781	0.6814	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.858;0.999	D	0.87861	0.2664	10	0.28530	T	0.3	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201;184	Q6ZW05;B0QZ29	CF138_HUMAN;.	R	201;184	ENSP00000341914:L201R;ENSP00000439864:L184R	ENSP00000341914:L201R	L	-	2	0	C6orf138	48084634	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	2.970000	0.49240	2.367000	0.80283	0.528000	0.53228	CTT		0.498	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
RHAG	6005	broad.mit.edu	37	6	49578864	49578864	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:49578864A>C	ENST00000371175.4	-	7	972				RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.?(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGTGGCTAAAATTATAAAAGG	0.393																																					.	Ovarian(176;476 2003 7720 43408 44749)											.	.	1	Unknown(1)	large_intestine(1)	.	6						.						57.0	61.0	60.0					6																	49578864		2203	4300	6503	49686823	SO:0001627	intron_variant	6005	.				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.946-6T>G	6.37:g.49578864A>C		Somatic		Capture	Illumina HiSeq	Phase_I	49686823	.	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Intron	SNP	ENST00000371175.4	37	CCDS4927.1																																																																																				0.393	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		
PGK2	5232	broad.mit.edu	37	6	49754076	49754076	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:49754076C>A	ENST00000304801.3	-	1	977	c.825G>T	c.(823-825)aaG>aaT	p.K275N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	275					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.K275N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTACACCATTCTTTTGTGCTT	0.428																																					p.K275N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G825T	6						.						136.0	132.0	134.0					6																	49754076		2203	4300	6503	49862035	SO:0001583	missense	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.825G>T	6.37:g.49754076C>A	ENSP00000305995:p.Lys275Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49862035	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	3.619	-0.077932	0.07184	.	.	ENSG00000170950	ENST00000304801	D	0.92397	-3.03	4.09	-4.14	0.03892	Phosphoglycerate kinase, C-terminal (1);	0.343934	0.36591	N	0.002517	T	0.78470	0.4288	M	0.73217	2.22	0.41678	D	0.989277	B	0.12630	0.006	B	0.15052	0.012	T	0.60120	-0.7325	10	0.56958	D	0.05	-0.0501	0.4853	0.00555	0.2191:0.3015:0.2278:0.2517	.	275	P07205	PGK2_HUMAN	N	275	ENSP00000305995:K275N	ENSP00000305995:K275N	K	-	3	2	PGK2	49862035	1.000000	0.71417	0.000000	0.03702	0.005000	0.04900	1.635000	0.37134	-0.956000	0.03631	-0.291000	0.09656	AAG		0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
PGK2	5232	broad.mit.edu	37	6	49754534	49754534	+	Missense_Mutation	SNP	G	G	A	rs141623265	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:49754534G>A	ENST00000304801.3	-	1	519	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	123					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.R123C(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACATGAAAGCGCAGGTTCTCC	0.512													G|||	13	0.00259585	0.0098	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0				p.R123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367T	6						.	G	CYS/ARG	30,4376	36.8+/-68.6	0,30,2173	102.0	101.0	101.0		367	3.2	1.0	6	dbSNP_134	101	0,8600		0,0,4300	yes	missense	PGK2	NM_138733.4	180	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	possibly-damaging	123/418	49754534	30,12976	2203	4300	6503	49862493	SO:0001583	missense	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.367C>T	6.37:g.49754534G>A	ENSP00000305995:p.Arg123Cys	Somatic		Capture	Illumina HiSeq	Phase_I	49862493	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	16.49	3.138032	0.56936	0.006809	0.0	ENSG00000170950	ENST00000304801	D	0.96232	-3.95	4.09	3.22	0.36961	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	H	0.99916	4.945	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	D	0.98025	1.0373	10	0.87932	D	0	-11.3049	9.9701	0.41749	0.102:0.0:0.898:0.0	.	123	P07205	PGK2_HUMAN	C	123	ENSP00000305995:R123C	ENSP00000305995:R123C	R	-	1	0	PGK2	49862493	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	4.134000	0.57990	1.306000	0.44926	0.585000	0.79938	CGC		0.512	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
TFAP2B	7021	broad.mit.edu	37	6	50786692	50786692	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:50786692C>T	ENST00000393655.3	+	1	250				TFAP2B_ENST00000263046.4_Intron	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TGAGGTGAGTCGACACCCCCA	0.438																																					.	Pancreas(116;1373 2332 5475 10752)											.	.	1	Unknown(1)	large_intestine(1)	.	6						.						92.0	77.0	82.0					6																	50786692		2203	4300	6503	50894651	SO:0001627	intron_variant	7021	.			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.81+7C>T	6.37:g.50786692C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50894651	.	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Intron	SNP	ENST00000393655.3	37	CCDS4934.2																																																																																				0.438	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
PKHD1	5314	broad.mit.edu	37	6	51609186	51609186	+	Missense_Mutation	SNP	C	C	T	rs200762675		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:51609186C>T	ENST00000371117.3	-	60	10428	c.10153G>A	c.(10153-10155)Gca>Aca	p.A3385T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A3385T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3385					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A3385T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTTACCTGCGTTGAAGAAG	0.478													C|||	0	0.0	0.0	0.0	5008	,	,		20284	0.0		0.0	False		,,,				2504	0.0				p.A3385T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10153A	6						.						158.0	155.0	156.0					6																	51609186		2203	4300	6503	51717145	SO:0001583	missense	5314	exon60			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10153G>A	6.37:g.51609186C>T	ENSP00000360158:p.Ala3385Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51717145	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.196	-1.048616	0.01981	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-1.96;-2.14	5.21	4.05	0.47172	.	0.311390	0.31461	N	0.007607	T	0.33411	0.0862	N	0.01168	-0.975	0.27711	N	0.945463	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.46911	-0.9157	10	0.02654	T	1	.	3.4727	0.07573	0.1593:0.2526:0.0:0.5881	.	3385;3385;3385	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3385	ENSP00000360158:A3385T;ENSP00000341097:A3385T	ENSP00000341097:A3385T	A	-	1	0	PKHD1	51717145	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	1.161000	0.31773	0.951000	0.37770	-0.312000	0.09012	GCA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51609338	51609338	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:51609338T>G	ENST00000371117.3	-	60	10276	c.10001A>C	c.(10000-10002)aAa>aCa	p.K3334T	PKHD1_ENST00000340994.4_Missense_Mutation_p.K3334T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3334					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K3334T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTAAATCTTTCCTGTGAAG	0.383																																					p.K3334T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10001C	6						.						62.0	63.0	62.0					6																	51609338		2203	4300	6503	51717297	SO:0001583	missense	5314	exon60			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10001A>C	6.37:g.51609338T>G	ENSP00000360158:p.Lys3334Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51717297	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	8.139	0.784788	0.16189	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87491	-2.06;-2.26	5.0	2.54	0.30619	.	0.405730	0.25091	N	0.033210	T	0.71169	0.3308	M	0.65975	2.015	0.28541	N	0.912092	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.62248	-0.6894	10	0.39692	T	0.17	.	6.1684	0.20404	0.0:0.0838:0.1615:0.7548	.	3334;3334;3334	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3334	ENSP00000360158:K3334T;ENSP00000341097:K3334T	ENSP00000341097:K3334T	K	-	2	0	PKHD1	51717297	0.107000	0.21998	1.000000	0.80357	0.179000	0.23085	-0.035000	0.12205	0.333000	0.23563	0.528000	0.53228	AAA		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51611557	51611557	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:51611557T>C	ENST00000371117.3	-	59	10235	c.9960A>G	c.(9958-9960)aaA>aaG	p.K3320K	PKHD1_ENST00000340994.4_Silent_p.K3320K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3320					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K3320K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTTTTTATCTTTTATCTTTA	0.363																																					p.K3320K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A9960G	6						.						147.0	146.0	146.0					6																	51611557		2203	4300	6503	51719516	SO:0001819	synonymous_variant	5314	exon59			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9960A>G	6.37:g.51611557T>C		Somatic		Capture	Illumina HiSeq	Phase_I	51719516	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.363	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51776733	51776733	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:51776733C>A	ENST00000371117.3	-	39	6629	c.6354G>T	c.(6352-6354)gaG>gaT	p.E2118D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2118D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2118					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E2118D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCACCCAATTCTCTGTAAAGT	0.408																																					p.E2118D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6354T	6						.						50.0	52.0	52.0					6																	51776733		2203	4300	6503	51884692	SO:0001583	missense	5314	exon39			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6354G>T	6.37:g.51776733C>A	ENSP00000360158:p.Glu2118Asp	Somatic		Capture	Illumina HiSeq	Phase_I	51884692	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.147662	0.57151	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92348	-3.02;-3.02	6.06	3.96	0.45880	.	0.135233	0.50627	D	0.000109	D	0.92711	0.7683	M	0.75447	2.3	0.26400	N	0.976447	D;D;D	0.76494	0.999;0.961;0.997	D;P;P	0.63192	0.912;0.705;0.867	D	0.87111	0.2185	10	0.52906	T	0.07	.	11.8314	0.52297	0.0:0.839:0.0:0.161	.	2118;2118;2118	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	D	2118	ENSP00000360158:E2118D;ENSP00000341097:E2118D	ENSP00000341097:E2118D	E	-	3	2	PKHD1	51884692	0.011000	0.17503	0.579000	0.28588	0.937000	0.57800	-0.055000	0.11807	1.548000	0.49413	0.655000	0.94253	GAG		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
EFHC1	114327	broad.mit.edu	37	6	52319011	52319011	+	Missense_Mutation	SNP	G	G	A	rs151126903		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:52319011G>A	ENST00000371068.5	+	5	945	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R190Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R262Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	281	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.R281Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCCACGAACGGAATGATGGG	0.438																																					p.R281Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G842A	6						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	187.0	170.0	176.0		785,842	5.9	1.0	6	dbSNP_134	176	0,8600		0,0,4300	no	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	262/622,281/641	52319011	1,13005	2203	4300	6503	52426970	SO:0001583	missense	114327	exon5			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.842G>A	6.37:g.52319011G>A	ENSP00000360107:p.Arg281Gln	Somatic		Capture	Illumina HiSeq	Phase_I	52426970	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795712	0.50208	2.27E-4	0.0	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.53423	0.62;0.62;0.62	5.87	5.87	0.94306	Uncharacterised domain DM10 (2);	0.360067	0.30235	N	0.010085	T	0.19525	0.0469	L	0.39692	1.235	0.34167	D	0.669334	P;P;P	0.39352	0.669;0.513;0.593	B;B;B	0.29524	0.102;0.069;0.103	T	0.11567	-1.0582	10	0.10636	T	0.68	-16.6199	17.1508	0.86777	0.0:0.126:0.874:0.0	.	262;190;281	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	Q	281;190;262	ENSP00000360107:R281Q;ENSP00000416492:R190Q;ENSP00000444521:R262Q	ENSP00000360107:R281Q	R	+	2	0	EFHC1	52426970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.607000	0.36836	2.779000	0.95612	0.591000	0.81541	CGG		0.438	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
GCM1	8521	broad.mit.edu	37	6	52993334	52993334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:52993334G>T	ENST00000259803.7	-	6	1192	c.981C>A	c.(979-981)ttC>ttA	p.F327L	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	327					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F327L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGGAAGGAGAGAAGCTGCAAG	0.488																																					p.F327L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C981A	6						.						71.0	76.0	74.0					6																	52993334		2203	4300	6503	53101293	SO:0001583	missense	8521	exon6			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.981C>A	6.37:g.52993334G>T	ENSP00000259803:p.Phe327Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53101293	NM_003643	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929113	0.34096	.	.	ENSG00000137270	ENST00000259803	T	0.73258	-0.73	5.73	4.85	0.62838	.	0.560594	0.17735	N	0.163742	T	0.27419	0.0673	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11941	-1.0567	10	0.11182	T	0.66	-12.4786	7.8705	0.29563	0.2194:0.0:0.7806:0.0	.	327	Q9NP62	GCM1_HUMAN	L	327	ENSP00000259803:F327L	ENSP00000259803:F327L	F	-	3	2	GCM1	53101293	0.675000	0.27558	0.863000	0.33907	0.921000	0.55340	1.598000	0.36740	1.426000	0.47256	0.591000	0.81541	TTC		0.488	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
GCLC	2729	broad.mit.edu	37	6	53365257	53365257	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:53365257A>G	ENST00000229416.6	-	13	1933	c.1450T>C	c.(1450-1452)Ttt>Ctt	p.F484L	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	484					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.F484L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CTGAAATAAAACATTCCCTGC	0.373																																					p.F446L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1336C	6						.						162.0	170.0	168.0					6																	53365257		2203	4300	6503	53473216	SO:0001583	missense	2729	exon12			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1450T>C	6.37:g.53365257A>G	ENSP00000229416:p.Phe484Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53473216	NM_001197115	Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	A	35	5.497051	0.96355	.	.	ENSG00000001084	ENST00000229416	T	0.74947	-0.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89303	0.3627	10	0.62326	D	0.03	-25.6733	15.9204	0.79562	1.0:0.0:0.0:0.0	.	484	P48506	GSH1_HUMAN	L	484	ENSP00000229416:F484L	ENSP00000229416:F484L	F	-	1	0	GCLC	53473216	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.174000	0.68829	0.533000	0.62120	TTT		0.373	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		
GCLC	2729	broad.mit.edu	37	6	53365322	53365322	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:53365322A>C	ENST00000229416.6	-	13	1879				RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit						apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CTAAGGGAAAAAAAGAATCAC	0.378																																					.												.	.	0			.	6						.						98.0	104.0	102.0					6																	53365322		2203	4300	6503	53473281	SO:0001627	intron_variant	2729	.			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1396-11T>G	6.37:g.53365322A>C		Somatic		Capture	Illumina HiSeq	Phase_I	53473281	.	Q14399	Intron	SNP	ENST00000229416.6	37	CCDS4952.1																																																																																				0.378	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		
GCLC	2729	broad.mit.edu	37	6	53374018	53374018	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:53374018C>T	ENST00000229416.6	-	7	1267	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	262					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.A262T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	AGGTATCTGGCCTCAGATATA	0.368																																					p.A224T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	6						.						94.0	90.0	91.0					6																	53374018		2203	4300	6503	53481977	SO:0001583	missense	2729	exon6			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.784G>A	6.37:g.53374018C>T	ENSP00000229416:p.Ala262Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53481977	NM_001197115	Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.521822	0.96416	.	.	ENSG00000001084	ENST00000229416	T	0.79845	-1.31	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.90145	3.09	0.80722	D	1	P	0.35272	0.493	B	0.36567	0.228	D	0.86194	0.1614	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	262	P48506	GSH1_HUMAN	T	262	ENSP00000229416:A262T	ENSP00000229416:A262T	A	-	1	0	GCLC	53481977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.578000	0.87016	0.557000	0.71058	GCC		0.368	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		
MLIP	90523	broad.mit.edu	37	6	54095540	54095540	+	Missense_Mutation	SNP	C	C	T	rs375482204		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:54095540C>T	ENST00000274897.5	+	11	1255	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S916L|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	381						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.S381L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGCCTGTCTCGCTCCATCCT	0.488																																					p.S381L												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.C1142T	6						.	C	LEU/SER	0,4406		0,0,2203	309.0	293.0	299.0		1142	4.5	1.0	6		299	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLIP	NM_138569.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	381/459	54095540	1,13005	2203	4300	6503	54203499	SO:0001583	missense	90523	exon11			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1142C>T	6.37:g.54095540C>T	ENSP00000274897:p.Ser381Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54203499	NM_138569	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491550	0.64074	0.0	1.16E-4	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	T;T;T	0.22134	2.31;1.97;1.99	5.41	4.54	0.55810	.	0.495032	0.18441	N	0.141129	T	0.08313	0.0207	L	0.44542	1.39	0.80722	D	1	P;B	0.44195	0.828;0.045	B;B	0.36922	0.236;0.009	T	0.08207	-1.0733	10	0.45353	T	0.12	.	9.9152	0.41430	0.0:0.9066:0.0:0.0934	.	916;381	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	L	381;916;310	ENSP00000274897:S381L;ENSP00000426290:S916L;ENSP00000421444:S310L	ENSP00000274897:S381L	S	+	2	0	MLIP	54203499	0.996000	0.38824	0.995000	0.50966	0.990000	0.78478	1.547000	0.36190	1.271000	0.44313	0.650000	0.86243	TCG		0.488	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	
FAM83B	222584	broad.mit.edu	37	6	54791223	54791223	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:54791223G>A	ENST00000306858.7	+	3	615	c.499G>A	c.(499-501)Gtt>Att	p.V167I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	167								p.V167I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAAGAAATCGTTGAGGCATC	0.318																																					p.V167I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	6						.						107.0	111.0	110.0					6																	54791223		2203	4300	6503	54899182	SO:0001583	missense	222584	exon3			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.499G>A	6.37:g.54791223G>A	ENSP00000304078:p.Val167Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54899182	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153130	0.57259	.	.	ENSG00000168143	ENST00000306858	T	0.11821	2.74	5.31	3.49	0.39957	.	0.202725	0.41001	D	0.000974	T	0.04679	0.0127	L	0.41415	1.275	0.45261	D	0.998263	B	0.31859	0.343	B	0.26517	0.07	T	0.21999	-1.0229	10	0.44086	T	0.13	-11.8803	10.5238	0.44936	0.0732:0.1347:0.7921:0.0	.	167	Q5T0W9	FA83B_HUMAN	I	167	ENSP00000304078:V167I	ENSP00000304078:V167I	V	+	1	0	FAM83B	54899182	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.495000	0.60353	1.206000	0.43276	0.563000	0.77884	GTT		0.318	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
HCRTR2	3062	broad.mit.edu	37	6	55147219	55147219	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:55147219A>G	ENST00000370862.3	+	7	1638	c.1302A>G	c.(1300-1302)gcA>gcG	p.A434A		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	434					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.A434A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACTCCCAGCAGCCAATGGAG	0.403																																					p.A434A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1302G	6						.						44.0	39.0	41.0					6																	55147219		2203	4300	6503	55255178	SO:0001819	synonymous_variant	3062	exon7			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1302A>G	6.37:g.55147219A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55255178	NM_001526	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.403	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
HMGCLL1	54511	broad.mit.edu	37	6	55378895	55378895	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:55378895A>T	ENST00000398661.2	-	6	714	c.583T>A	c.(583-585)Ttt>Att	p.F195I	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.F165I|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.F133I|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.F133I|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	195					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.F195I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACCTCCTCAAATTTTCCCATA	0.373																																					p.F195I	Ovarian(35;840 893 7837 15538 42887)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T583A	6						.						82.0	76.0	78.0					6																	55378895		1818	4063	5881	55486854	SO:0001583	missense	54511	exon6			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.583T>A	6.37:g.55378895A>T	ENSP00000381654:p.Phe195Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55486854	NM_019036	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626770	0.87560	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000308161;ENST00000428842	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-3.56	5.05	5.05	0.67936	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.73217	2.22	0.80722	D	1	D;P;P;P	0.58268	0.982;0.746;0.784;0.82	P;B;B;P	0.58210	0.835;0.43;0.321;0.45	D	0.98319	1.0527	10	0.66056	D	0.02	-22.422	15.099	0.72258	1.0:0.0:0.0:0.0	.	133;133;165;195	F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	I	165;195;133;133	ENSP00000274901:F165I;ENSP00000381654:F195I;ENSP00000309737:F133I;ENSP00000412924:F133I	ENSP00000274901:F165I	F	-	1	0	HMGCLL1	55486854	1.000000	0.71417	0.917000	0.36280	0.942000	0.58702	9.284000	0.95882	2.015000	0.59207	0.533000	0.62120	TTT		0.373	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
BMP5	653	broad.mit.edu	37	6	55620350	55620350	+	Missense_Mutation	SNP	C	C	T	rs376923719		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:55620350C>T	ENST00000370830.3	-	7	2044	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	BMP5_ENST00000446683.2_Missense_Mutation_p.R412H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	449					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCACATGAGCGTACTACCAT	0.333																																					p.R449H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346A	6						.	C	HIS/ARG	0,4406		0,0,2203	51.0	55.0	54.0		1346	5.7	1.0	6		54	1,8597	1.2+/-3.3	0,1,4298	no	missense	BMP5	NM_021073.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	449/455	55620350	1,13003	2203	4299	6502	55728309	SO:0001583	missense	653	exon7				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1346G>A	6.37:g.55620350C>T	ENSP00000359866:p.Arg449His	Somatic		Capture	Illumina HiSeq	Phase_I	55728309	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623539	0.87460	0.0	1.16E-4	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89270	-2.49;-2.49	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.982;0.986	D	0.94016	0.7288	10	0.87932	D	0	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	412;449	B4E0Y4;P22003	.;BMP5_HUMAN	H	449;412	ENSP00000359866:R449H;ENSP00000391818:R412H	ENSP00000359866:R449H	R	-	2	0	BMP5	55728309	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.776000	0.85560	2.854000	0.98071	0.655000	0.94253	CGC		0.333	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
COL21A1	81578	broad.mit.edu	37	6	56032925	56032925	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56032925A>C	ENST00000244728.5	-	6	1594	c.1197T>G	c.(1195-1197)gtT>gtG	p.V399V	COL21A1_ENST00000535941.1_Silent_p.V399V|COL21A1_ENST00000370819.1_Silent_p.V399V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	399	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V399V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATCTACCTGAACAGTTTCTT	0.303																																					p.V399V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1197G	6						.						52.0	45.0	47.0					6																	56032925		1774	4035	5809	56140884	SO:0001819	synonymous_variant	81578	exon6			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1197T>G	6.37:g.56032925A>C		Somatic		Capture	Illumina HiSeq	Phase_I	56140884	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.303	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56035867	56035867	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56035867G>T	ENST00000244728.5	-	4	1097	c.700C>A	c.(700-702)Ctt>Att	p.L234I	COL21A1_ENST00000535941.1_Missense_Mutation_p.L234I|COL21A1_ENST00000370819.1_Missense_Mutation_p.L234I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	234	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L234I(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAACCTAAAAGAATATCAAAT	0.318																																					p.L234I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C700A	6						.						116.0	104.0	108.0					6																	56035867		1819	4080	5899	56143826	SO:0001583	missense	81578	exon4			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.700C>A	6.37:g.56035867G>T	ENSP00000244728:p.Leu234Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56143826	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462301	0.43736	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.02890	4.12;4.12;4.12	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.46145	U	0.000308	T	0.02610	0.0079	N	0.25286	0.73	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.978	T	0.43621	-0.9380	10	0.02654	T	1	.	16.8146	0.85730	0.0:0.0:1.0:0.0	.	234;234	Q96P44-3;Q96P44	.;COLA1_HUMAN	I	234	ENSP00000244728:L234I;ENSP00000359855:L234I;ENSP00000444384:L234I	ENSP00000244728:L234I	L	-	1	0	COL21A1	56143826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.077000	0.64419	2.024000	0.59613	0.585000	0.79938	CTT		0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56425201	56425201	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56425201C>T	ENST00000361203.3	-	54	13705	c.13698G>A	c.(13696-13698)aaG>aaA	p.K4566K	DST_ENST00000421834.2_Silent_p.K2480K|DST_ENST00000244364.6_Silent_p.K2154K|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.K4568K|DST_ENST00000370788.2_Silent_p.K2480K|DST_ENST00000370754.5_Silent_p.K4746K|DST_ENST00000446842.2_Silent_p.K4242K			Q03001	DYST_HUMAN	dystonin	4566					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K2154K(1)|p.K4568K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATTCTGCTTCAGTTCTG	0.373																																					p.K2154K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6462A	6						.						81.0	73.0	75.0					6																	56425201		1850	4098	5948	56533160	SO:0001819	synonymous_variant	667	exon39			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13698G>A	6.37:g.56425201C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56533160	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56458881	56458881	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56458881C>A	ENST00000361203.3	-	44	11680	c.11673G>T	c.(11671-11673)gaG>gaT	p.E3891D	DST_ENST00000421834.2_Missense_Mutation_p.E1805D|DST_ENST00000244364.6_Missense_Mutation_p.E1479D|DST_ENST00000312431.6_Missense_Mutation_p.E3891D|DST_ENST00000370769.4_Missense_Mutation_p.E3893D|DST_ENST00000370788.2_Missense_Mutation_p.E1805D|DST_ENST00000370754.5_Missense_Mutation_p.E4071D|DST_ENST00000446842.2_Missense_Mutation_p.E3567D			Q03001	DYST_HUMAN	dystonin	3891					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E1479D(1)|p.E3893D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTGCAGTTTCTCTTTTTCTT	0.423																																					p.E1479D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4437T	6						.						99.0	90.0	93.0					6																	56458881		1911	4126	6037	56566840	SO:0001583	missense	667	exon29			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11673G>T	6.37:g.56458881C>A	ENSP00000354508:p.Glu3891Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56566840	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	8.919	0.960668	0.18583	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.55	2.74	0.32292	.	0.108992	0.40222	N	0.001151	T	0.15825	0.0381	L	0.53249	1.67	0.25515	N	0.987427	B;B;B;B;B	0.27910	0.002;0.1;0.193;0.0;0.003	B;B;B;B;B	0.39904	0.003;0.103;0.313;0.003;0.011	T	0.19192	-1.0313	9	0.13470	T	0.59	.	5.3594	0.16079	0.0:0.4697:0.2538:0.2765	.	1805;3893;4071;3891;1479	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	D	1479;4071;3893;1805;3567;3891;1805;3891	ENSP00000244364:E1479D;ENSP00000359790:E4071D;ENSP00000359805:E3893D;ENSP00000400883:E1805D;ENSP00000393645:E3567D;ENSP00000307959:E3891D;ENSP00000359824:E1805D;ENSP00000354508:E3891D	ENSP00000244364:E1479D	E	-	3	2	DST	56566840	0.993000	0.37304	0.997000	0.53966	0.558000	0.35554	0.386000	0.20702	0.361000	0.24292	0.650000	0.86243	GAG		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56463285	56463285	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56463285C>A	ENST00000361203.3	-	42	11291	c.11284G>T	c.(11284-11286)Gaa>Taa	p.E3762*	DST_ENST00000421834.2_Nonsense_Mutation_p.E1676*|DST_ENST00000244364.6_Nonsense_Mutation_p.E1350*|DST_ENST00000312431.6_Nonsense_Mutation_p.E3762*|DST_ENST00000370769.4_Nonsense_Mutation_p.E3764*|DST_ENST00000370788.2_Nonsense_Mutation_p.E1676*|DST_ENST00000370754.5_Nonsense_Mutation_p.E3942*|DST_ENST00000446842.2_Nonsense_Mutation_p.E3438*			Q03001	DYST_HUMAN	dystonin	3762					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E1350*(1)|p.E3764*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCAGTTTCTTCCTTGATT	0.323																																					p.E1350X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4048T	6						.						125.0	109.0	114.0					6																	56463285		1825	4077	5902	56571244	SO:0001587	stop_gained	667	exon27			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11284G>T	6.37:g.56463285C>A	ENSP00000354508:p.Glu3762*	Somatic		Capture	Illumina HiSeq	Phase_I	56571244	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	53	21.205647	0.99938	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.72	5.72	0.89469	.	0.000000	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	.	.	.	X	1350;3942;3764;1676;3438;3762;1676;3762	.	ENSP00000244364:E1350X	E	-	1	0	DST	56571244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.448000	0.66612	2.696000	0.92011	0.650000	0.86243	GAA		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56468173	56468173	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56468173C>A	ENST00000361203.3	-	38	10361	c.10354G>T	c.(10354-10356)Gat>Tat	p.D3452Y	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D3452Y|DST_ENST00000370769.4_Missense_Mutation_p.D3452Y|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.D3630Y|DST_ENST00000446842.2_Missense_Mutation_p.D3126Y			Q03001	DYST_HUMAN	dystonin	3452					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D3452Y(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTCATATCTTTTCTTAAA	0.368																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						40.0	42.0	41.0					6																	56468173		876	1991	2867	56576132	SO:0001583	missense	667	.			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10354G>T	6.37:g.56468173C>A	ENSP00000354508:p.Asp3452Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56576132	.	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	16.40	3.112815	0.56398	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000068	T	0.57636	0.2067	.	.	.	0.37042	D	0.897176	.	.	.	.	.	.	T	0.53669	-0.8406	6	0.42905	T	0.14	.	19.6771	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	Y	3630;3452;3126;3452;3452	ENSP00000359790:D3630Y;ENSP00000359805:D3452Y;ENSP00000393645:D3126Y;ENSP00000307959:D3452Y;ENSP00000354508:D3452Y	ENSP00000307959:D3452Y	D	-	1	0	DST	56576132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.330000	0.59266	2.732000	0.93576	0.655000	0.94253	GAT		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56469897	56469897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56469897C>A	ENST00000361203.3	-	36	8903	c.8896G>T	c.(8896-8898)Gag>Tag	p.E2966*	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.E2966*|DST_ENST00000370769.4_Nonsense_Mutation_p.E2966*|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Nonsense_Mutation_p.E3144*|DST_ENST00000446842.2_Nonsense_Mutation_p.E2640*			Q03001	DYST_HUMAN	dystonin	2966					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E2966*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGATCAAGCTCTTTCTCAGGT	0.353																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	6						.						62.0	60.0	61.0					6																	56469897		1880	4110	5990	56577856	SO:0001587	stop_gained	667	.			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8896G>T	6.37:g.56469897C>A	ENSP00000354508:p.Glu2966*	Somatic		Capture	Illumina HiSeq	Phase_I	56577856	.	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	49	15.102187	0.99822	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	.	.	.	5.79	4.92	0.64577	.	0.520464	0.17269	N	0.180476	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.4493	0.44513	0.0:0.8513:0.0:0.1487	.	.	.	.	X	3144;2966;2640;2966;2966;2640	.	ENSP00000307959:E2966X	E	-	1	0	DST	56577856	0.105000	0.21958	0.053000	0.19242	0.977000	0.68977	0.770000	0.26618	1.453000	0.47775	0.655000	0.94253	GAG		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56481267	56481267	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56481267A>G	ENST00000370765.6	-	24	7105	c.6998T>C	c.(6997-6999)gTc>gCc	p.V2333A	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1666					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.V2333A(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTTTCTTGACATTGAGATT	0.368																																					p.V2333A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6998C	6						.						79.0	80.0	79.0					6																	56481267		2203	4300	6503	56589226	SO:0001583	missense	667	exon24			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6998T>C	6.37:g.56481267A>G	ENSP00000359801:p.Val2333Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56589226	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	A	2.148	-0.395223	0.04899	.	.	ENSG00000151914	ENST00000370765	T	0.72282	-0.64	5.62	5.62	0.85841	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.24119	-1.0169	7	0.29301	T	0.29	.	8.2495	0.31708	0.8472:0.0:0.1528:0.0	.	2333	Q03001-3	.	A	2333	ENSP00000359801:V2333A	ENSP00000359801:V2333A	V	-	2	0	DST	56589226	0.975000	0.34042	0.929000	0.37066	0.260000	0.26232	3.754000	0.55189	2.267000	0.75376	0.528000	0.53228	GTC		0.368	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56483461	56483461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56483461C>A	ENST00000370765.6	-	23	5478	c.5371G>T	c.(5371-5373)Gaa>Taa	p.E1791*	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6526					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E1791*(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAGCATTTTCTTGGGCTCTA	0.378																																					p.E1791X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G5371T	6						.						109.0	108.0	108.0					6																	56483461		2203	4300	6503	56591420	SO:0001587	stop_gained	667	exon23			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5371G>T	6.37:g.56483461C>A	ENSP00000359801:p.Glu1791*	Somatic		Capture	Illumina HiSeq	Phase_I	56591420	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	42	9.182478	0.99092	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.1579	0.93518	0.0:1.0:0.0:0.0	.	.	.	.	X	1791	.	ENSP00000359801:E1791X	E	-	1	0	DST	56591420	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	5.623000	0.67757	2.590000	0.87494	0.650000	0.86243	GAA		0.378	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56484238	56484238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56484238C>A	ENST00000370765.6	-	23	4701	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E1532*(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAATTGTTCTTTTAGATGA	0.303																																					p.E1532X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4594T	6						.						61.0	61.0	61.0					6																	56484238		2195	4297	6492	56592197	SO:0001587	stop_gained	667	exon23			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4594G>T	6.37:g.56484238C>A	ENSP00000359801:p.Glu1532*	Somatic		Capture	Illumina HiSeq	Phase_I	56592197	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	40	7.926489	0.98565	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.313	0.94199	0.0:1.0:0.0:0.0	.	.	.	.	X	1532	.	ENSP00000359801:E1532X	E	-	1	0	DST	56592197	1.000000	0.71417	0.365000	0.25901	0.215000	0.24574	3.969000	0.56816	2.557000	0.86248	0.585000	0.79938	GAA		0.303	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56497768	56497768	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56497768A>C	ENST00000361203.3	-	24	3063	c.3056T>G	c.(3055-3057)tTt>tGt	p.F1019C	DST_ENST00000421834.2_Missense_Mutation_p.F1019C|DST_ENST00000370765.6_Missense_Mutation_p.F693C|DST_ENST00000244364.6_Missense_Mutation_p.F693C|DST_ENST00000312431.6_Missense_Mutation_p.F1019C|DST_ENST00000370769.4_Missense_Mutation_p.F1019C|DST_ENST00000370788.2_Missense_Mutation_p.F1019C|DST_ENST00000370754.5_Missense_Mutation_p.F1197C|DST_ENST00000446842.2_Missense_Mutation_p.F693C|DST_ENST00000518935.1_Missense_Mutation_p.F693C			Q03001	DYST_HUMAN	dystonin	1019					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.F693C(3)|p.F1019C(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTCCAGAAAATCTTCAAA	0.363																																					p.F693C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T2078G	6						.						109.0	106.0	107.0					6																	56497768		2203	4300	6503	56605727	SO:0001583	missense	667	exon14			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3056T>G	6.37:g.56497768A>C	ENSP00000354508:p.Phe1019Cys	Somatic		Capture	Illumina HiSeq	Phase_I	56605727	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	24.7	4.564831	0.86439	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000031	T	0.59998	0.2235	M	0.86343	2.81	0.36673	D	0.878608	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.996;0.993;0.996;0.971;0.994;1.0;0.996;0.973	T	0.68720	-0.5334	9	0.87932	D	0	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	1019;1019;1197;693;693;693;1019;693	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	C	693;1197;1019;1019;693;1019;1019;1019;693;1059;693;693	ENSP00000244364:F693C;ENSP00000359790:F1197C;ENSP00000359805:F1019C;ENSP00000400883:F1019C;ENSP00000393645:F693C;ENSP00000307959:F1019C;ENSP00000359824:F1019C;ENSP00000354508:F1019C;ENSP00000404924:F693C;ENSP00000431030:F1059C;ENSP00000359801:F693C;ENSP00000431003:F693C	ENSP00000244364:F693C	F	-	2	0	DST	56605727	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.887000	0.92456	2.308000	0.77769	0.533000	0.62120	TTT		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56504259	56504259	+	Missense_Mutation	SNP	C	C	A	rs376193903		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56504259C>A	ENST00000361203.3	-	17	2222	c.2215G>T	c.(2215-2217)Gat>Tat	p.D739Y	DST_ENST00000421834.2_Missense_Mutation_p.D739Y|DST_ENST00000370765.6_Missense_Mutation_p.D413Y|DST_ENST00000244364.6_Missense_Mutation_p.D413Y|DST_ENST00000312431.6_Missense_Mutation_p.D739Y|DST_ENST00000370769.4_Missense_Mutation_p.D739Y|DST_ENST00000370788.2_Missense_Mutation_p.D739Y|DST_ENST00000370754.5_Missense_Mutation_p.D917Y|DST_ENST00000446842.2_Missense_Mutation_p.D413Y|DST_ENST00000518935.1_Missense_Mutation_p.D413Y			Q03001	DYST_HUMAN	dystonin	739					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D413Y(3)|p.D739Y(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCATGATAATCTTTTTTCCTA	0.343																																					p.D413Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1237T	6						.						116.0	115.0	116.0					6																	56504259		2203	4300	6503	56612218	SO:0001583	missense	667	exon7			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2215G>T	6.37:g.56504259C>A	ENSP00000354508:p.Asp739Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56612218	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	15.18	2.757759	0.49468	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.93019	0.68;-3.15;-3.15;0.68;-3.15;0.68;0.68;-3.15;0.68;0.68;0.68;0.68	5.25	3.44	0.39384	.	0.398080	0.20845	N	0.084634	D	0.93207	0.7836	L	0.52573	1.65	0.27140	N	0.961676	P;P;D;P;D;P;P;D;B;P	0.71674	0.924;0.57;0.976;0.773;0.995;0.917;0.898;0.998;0.38;0.882	B;P;P;P;P;P;P;D;B;P	0.70016	0.34;0.483;0.556;0.58;0.814;0.516;0.601;0.967;0.191;0.601	D	0.93204	0.6594	9	0.72032	D	0.01	.	11.9668	0.53040	0.0:0.8575:0.0:0.1425	.	768;739;739;917;855;413;413;413;739;413	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	Y	413;917;739;739;413;739;739;739;413;779;413;413	ENSP00000244364:D413Y;ENSP00000359790:D917Y;ENSP00000359805:D739Y;ENSP00000400883:D739Y;ENSP00000393645:D413Y;ENSP00000307959:D739Y;ENSP00000359824:D739Y;ENSP00000354508:D739Y;ENSP00000404924:D413Y;ENSP00000431030:D779Y;ENSP00000359801:D413Y;ENSP00000431003:D413Y	ENSP00000244364:D413Y	D	-	1	0	DST	56612218	1.000000	0.71417	0.985000	0.45067	0.519000	0.34347	5.924000	0.70054	0.762000	0.33152	0.585000	0.79938	GAT		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56510787	56510787	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56510787C>A	ENST00000361203.3	-	11	1029	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	DST_ENST00000421834.2_Missense_Mutation_p.W341L|DST_ENST00000244364.6_5'Flank|DST_ENST00000312431.6_Missense_Mutation_p.W341L|DST_ENST00000370769.4_Missense_Mutation_p.W341L|DST_ENST00000370788.2_Missense_Mutation_p.W341L|DST_ENST00000370754.5_Missense_Mutation_p.W519L			Q03001	DYST_HUMAN	dystonin	341					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.W341L(1)|p.W519L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATTCTATCCAAATCTTGAG	0.348																																					.												.	.	2	Substitution - Missense(2)	large_intestine(2)	.	6						.						55.0	49.0	51.0					6																	56510787		1808	4080	5888	56618746	SO:0001583	missense	667	.			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1022G>T	6.37:g.56510787C>A	ENSP00000354508:p.Trp341Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56618746	.	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	18.48	3.632546	0.67015	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.46	5.46	0.80206	.	0.000000	0.48767	D	0.000170	D	0.96253	0.8778	.	.	.	0.36667	D	0.878271	D;D;D;D;D;D	0.89917	0.993;1.0;0.997;0.999;1.0;1.0	P;D;D;D;D;D	0.91635	0.787;0.996;0.986;0.994;0.999;0.996	D	0.95979	0.8976	8	0.72032	D	0.01	.	19.4909	0.95049	0.0:1.0:0.0:0.0	.	370;341;341;519;457;341	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	L	519;341;341;341;341;341;381;519	ENSP00000359790:W519L;ENSP00000359805:W341L;ENSP00000400883:W341L;ENSP00000307959:W341L;ENSP00000359824:W341L;ENSP00000354508:W341L;ENSP00000431030:W381L;ENSP00000393082:W519L	ENSP00000307959:W341L	W	-	2	0	DST	56618746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	TGG		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56716259	56716259	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56716259C>T	ENST00000370754.5	-	4	560	c.561G>A	c.(559-561)tcG>tcA	p.S187S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S187S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTCTTTTCGATCTCTCAT	0.542											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	6						.						69.0	62.0	64.0					6																	56716259		1568	3582	5150	56824218	SO:0001819	synonymous_variant	667	.			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.561G>A	6.37:g.56716259C>T		Somatic	1017	Capture	Illumina HiSeq	Phase_I	56824218	.	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370754.5	37																																																																																					0.542	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723	
DST	667	broad.mit.edu	37	6	56765395	56765395	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56765395G>T	ENST00000370754.5	-	3	240	c.241C>A	c.(241-243)Ctt>Att	p.L81I				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L81I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGTCTTCTAAGATGCCGAGGG	0.498																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						43.0	41.0	42.0					6																	56765395		1568	3582	5150	56873354	SO:0001583	missense	667	.			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.241C>A	6.37:g.56765395G>T	ENSP00000359790:p.Leu81Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56873354	.	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37		.	.	.	.	.	.	.	.	.	.	G	0.130	-1.114366	0.01799	.	.	ENSG00000151914	ENST00000370754;ENST00000449297	T;D	0.93859	0.12;-3.3	4.74	-9.48	0.00591	.	.	.	.	.	T	0.77691	0.4168	.	.	.	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	7	0.25106	T	0.35	.	16.4082	0.83698	0.0:0.0991:0.7183:0.1826	.	81	E9PEB9	.	I	81	ENSP00000359790:L81I;ENSP00000393082:L81I	ENSP00000359790:L81I	L	-	1	0	DST	56873354	0.003000	0.15002	0.000000	0.03702	0.526000	0.34562	-0.394000	0.07296	-2.212000	0.00736	-0.545000	0.04230	CTT		0.498	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723	
ZNF451	26036	broad.mit.edu	37	6	56993581	56993581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:56993581G>T	ENST00000370706.4	+	5	611	c.367G>T	c.(367-369)Gga>Tga	p.G123*	ZNF451_ENST00000491832.2_Nonsense_Mutation_p.G123*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.G123*|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G123*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTTATTCGAGGACATTCTGA	0.363																																					p.G123X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G367T	6						.						105.0	99.0	101.0					6																	56993581		2203	4300	6503	57101540	SO:0001587	stop_gained	26036	exon5			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.367G>T	6.37:g.56993581G>T	ENSP00000359740:p.Gly123*	Somatic		Capture	Illumina HiSeq	Phase_I	57101540	NM_001031623	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736113	0.89482	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	4.94	4.94	0.65067	.	0.336775	0.28877	N	0.013841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.9093	17.7685	0.88485	0.0:0.0:1.0:0.0	.	.	.	.	X	95;123;123;123	.	ENSP00000350083:G123X	G	+	1	0	ZNF451	57101540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.854000	0.75440	2.282000	0.76494	0.655000	0.94253	GGA		0.363	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
RAB23	51715	broad.mit.edu	37	6	57072415	57072415	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:57072415C>A	ENST00000317483.3	-	3	861				RAB23_ENST00000468148.1_Intron	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family						autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAAATAAATCCTGTGTTTTAC	0.328																																					.												.	.	0			.	6						.						90.0	85.0	87.0					6																	57072415		2203	4298	6501	57180374	SO:0001627	intron_variant	51715	.			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.241+10G>T	6.37:g.57072415C>A		Somatic		Capture	Illumina HiSeq	Phase_I	57180374	.	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Intron	SNP	ENST00000317483.3	37	CCDS4962.1																																																																																				0.328	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		
PRIM2	5558	broad.mit.edu	37	6	57246914	57246914	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:57246914T>A	ENST00000607273.1	+	7	728	c.641T>A	c.(640-642)aTt>aAt	p.I214N	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	214					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)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.I214N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTAAGGACATTGTGGCAATC	0.393																																					p.I214N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T641A	6						.						178.0	159.0	166.0					6																	57246914		1943	4159	6102	57354873	SO:0001583	missense	5558	exon7				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.641T>A	6.37:g.57246914T>A	ENSP00000475738:p.Ile214Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57354873	NM_000947	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.393	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	
PRIM2	5558	broad.mit.edu	37	6	57372310	57372310	+	Missense_Mutation	SNP	C	C	T	rs201525373		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:57372310C>T	ENST00000607273.1	+	8	803	c.716C>T	c.(715-717)gCt>gTt	p.A239V	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	239					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)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.A239V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCCTTGCCTGCTGTGCAGTCT	0.408																																					p.A239V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	6						.	C	VAL/ALA	0,3828		0,0,1914	134.0	121.0	125.0		716	5.4	1.0	6		125	2,8290		0,2,4144	yes	missense	PRIM2	XM_003403439.1	64	0,2,6058	TT,TC,CC		0.0241,0.0,0.0165	benign	239/510	57372310	2,12118	1914	4146	6060	57480269	SO:0001583	missense	5558	exon8				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.716C>T	6.37:g.57372310C>T	ENSP00000475738:p.Ala239Val	Somatic		Capture	Illumina HiSeq	Phase_I	57480269	NM_000947	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.408	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	
KHDRBS2	202559	broad.mit.edu	37	6	62604556	62604556	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:62604556T>C	ENST00000281156.4	-	6	1072	c.794A>G	c.(793-795)gAa>gGa	p.E265G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.E265G(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCATAAGCTTCATGGGCTGG	0.483																																					p.E265G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A794G	6						.						74.0	76.0	76.0					6																	62604556		2203	4300	6503	62662515	SO:0001583	missense	202559	exon6			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.794A>G	6.37:g.62604556T>C	ENSP00000281156:p.Glu265Gly	Somatic		Capture	Illumina HiSeq	Phase_I	62662515	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425007	0.62733	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.50277	0.75	5.82	5.82	0.92795	.	0.157403	0.56097	D	0.000034	T	0.39091	0.1065	M	0.64170	1.965	0.41976	D	0.990777	P	0.45594	0.862	B	0.41917	0.37	T	0.48647	-0.9017	10	0.72032	D	0.01	-5.2387	16.1698	0.81801	0.0:0.0:0.0:1.0	.	265	Q5VWX1	KHDR2_HUMAN	G	265	ENSP00000281156:E265G	ENSP00000281156:E265G	E	-	2	0	KHDRBS2	62662515	0.996000	0.38824	0.165000	0.22776	0.966000	0.64601	6.309000	0.72825	2.207000	0.71202	0.533000	0.62120	GAA		0.483	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
LGSN	51557	broad.mit.edu	37	6	63989948	63989948	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:63989948T>G	ENST00000370657.4	-	4	1541	c.1508A>C	c.(1507-1509)aAa>aCa	p.K503T	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	503					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.K503T(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCTAAGAATTTATTTCTCTC	0.328																																					p.K503T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1508C	6						.						55.0	61.0	59.0					6																	63989948		2200	4297	6497	64047907	SO:0001583	missense	51557	exon4			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1508A>C	6.37:g.63989948T>G	ENSP00000359691:p.Lys503Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64047907	NM_016571	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821561	0.71028	.	.	ENSG00000146166	ENST00000370657	D	0.86230	-2.09	5.96	5.96	0.96718	.	0.041485	0.85682	D	0.000000	D	0.82342	0.5016	L	0.46741	1.465	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	D	0.85611	0.1258	10	0.72032	D	0.01	-36.1855	15.6296	0.76893	0.0:0.0:0.0:1.0	.	503	Q5TDP6	LGSN_HUMAN	T	503	ENSP00000359691:K503T	ENSP00000359691:K503T	K	-	2	0	LGSN	64047907	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.698000	0.84413	2.285000	0.76669	0.533000	0.62120	AAA		0.328	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
PTP4A1	7803	broad.mit.edu	37	6	64286869	64286869	+	Silent	SNP	G	G	A	rs548254910		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64286869G>A	ENST00000370651.3	+	2	1237	c.84G>A	c.(82-84)gcG>gcA	p.A28A	PTP4A1_ENST00000370650.2_Silent_p.A28A	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	28					cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.A28A(1)		large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAACCAATGCGACCTTAAACA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		16672	0.001		0.0	False		,,,				2504	0.0				p.A28A	Pancreas(91;1019 1502 28028 38110 51645)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	6						.						61.0	63.0	63.0					6																	64286869		2203	4300	6503	64344828	SO:0001819	synonymous_variant	7803	exon2			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.84G>A	6.37:g.64286869G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64344828	NM_003463	B2R6C8|O00648|Q49A54	Silent	SNP	ENST00000370651.3	37	CCDS4965.1																																																																																				0.323	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2		
PHF3	23469	broad.mit.edu	37	6	64394927	64394927	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64394927T>C	ENST00000262043.3	+	4	1644	c.1304T>C	c.(1303-1305)aTc>aCc	p.I435T	PHF3_ENST00000393387.1_Missense_Mutation_p.I435T|PHF3_ENST00000509330.1_Missense_Mutation_p.I435T			Q92576	PHF3_HUMAN	PHD finger protein 3	435					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I435T(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAAGTAATATCTTGGAAAAT	0.373																																					p.I435T	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1304C	6						.						88.0	97.0	94.0					6																	64394927		2203	4300	6503	64452886	SO:0001583	missense	23469	exon3			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1304T>C	6.37:g.64394927T>C	ENSP00000262043:p.Ile435Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64452886	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	T	1.090	-0.664228	0.03428	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.53206	1.97;1.6;1.98;1.62;0.63;1.98	5.72	1.96	0.26148	.	0.965399	0.08431	N	0.946881	T	0.07234	0.0183	N	0.01800	-0.715	0.31685	N	0.64265	B;B	0.23377	0.003;0.084	B;B	0.23419	0.004;0.046	T	0.22661	-1.0210	10	0.27082	T	0.32	-1.2397	5.4917	0.16779	0.1284:0.1425:0.0:0.7291	.	435;435	Q92576;D6R9X2	PHF3_HUMAN;.	T	249;347;435;388;435;435	ENSP00000424694:I249T;ENSP00000425227:I347T;ENSP00000262043:I435T;ENSP00000424078:I388T;ENSP00000422841:I435T;ENSP00000377048:I435T	ENSP00000262043:I435T	I	+	2	0	PHF3	64452886	0.970000	0.33590	0.338000	0.25549	0.410000	0.31052	1.528000	0.35985	0.094000	0.17404	0.482000	0.46254	ATC		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64401837	64401837	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64401837G>T	ENST00000262043.3	+	5	2740	c.2400G>T	c.(2398-2400)atG>atT	p.M800I	PHF3_ENST00000393387.1_Missense_Mutation_p.M800I			Q92576	PHF3_HUMAN	PHD finger protein 3	800					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.M800I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAAACAATGGAGTGTGAAA	0.333																																					p.M800I	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2400T	6						.						84.0	83.0	83.0					6																	64401837		2203	4300	6503	64459796	SO:0001583	missense	23469	exon4			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2400G>T	6.37:g.64401837G>T	ENSP00000262043:p.Met800Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64459796	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432525	0.25813	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.42131	2.24;1.9;0.98;2.27;1.92;2.27	5.06	5.06	0.68205	.	0.000000	0.48286	D	0.000195	T	0.18509	0.0444	L	0.33485	1.01	0.35305	D	0.783408	B	0.14438	0.01	B	0.08055	0.003	T	0.04017	-1.0984	10	0.28530	T	0.3	-5.1577	14.6161	0.68549	0.0:0.0:0.8451:0.1549	.	800	Q92576	PHF3_HUMAN	I	614;712;69;800;753;800	ENSP00000424694:M614I;ENSP00000425227:M712I;ENSP00000425338:M69I;ENSP00000262043:M800I;ENSP00000424078:M753I;ENSP00000377048:M800I	ENSP00000262043:M800I	M	+	3	0	PHF3	64459796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.238000	0.43070	2.517000	0.84864	0.585000	0.79938	ATG		0.333	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64421713	64421713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64421713G>T	ENST00000262043.3	+	16	4569	c.4229G>T	c.(4228-4230)aGa>aTa	p.R1410I	PHF3_ENST00000393387.1_Missense_Mutation_p.R1410I			Q92576	PHF3_HUMAN	PHD finger protein 3	1410					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R1410I(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAGCAGAGAAATAAACCT	0.358																																					p.R1410I	GBM(135;136 1820 29512 34071 46235)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4229T	6						.						91.0	102.0	98.0					6																	64421713		2201	4299	6500	64479672	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4229G>T	6.37:g.64421713G>T	ENSP00000262043:p.Arg1410Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64479672	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666585	0.47677	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.54071	0.59;1.78;1.78	5.95	5.95	0.96441	.	0.000000	0.42548	D	0.000693	T	0.61236	0.2331	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.56563	0.801	T	0.60005	-0.7347	10	0.52906	T	0.07	-24.2187	20.3854	0.98941	0.0:0.0:1.0:0.0	.	1410	Q92576	PHF3_HUMAN	I	679;1410;1410	ENSP00000425338:R679I;ENSP00000262043:R1410I;ENSP00000377048:R1410I	ENSP00000262043:R1410I	R	+	2	0	PHF3	64479672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.666000	0.54540	2.825000	0.97269	0.655000	0.94253	AGA		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64422671	64422671	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64422671G>T	ENST00000262043.3	+	16	5527	c.5187G>T	c.(5185-5187)caG>caT	p.Q1729H	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1729H			Q92576	PHF3_HUMAN	PHD finger protein 3	1729					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q1729H(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAACATACAGACTTCTCAAG	0.388																																					p.Q1729H	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5187T	6						.						73.0	75.0	74.0					6																	64422671		2202	4300	6502	64480630	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5187G>T	6.37:g.64422671G>T	ENSP00000262043:p.Gln1729His	Somatic		Capture	Illumina HiSeq	Phase_I	64480630	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.135381	0.00335	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.22336	1.96;1.96	5.97	-6.38	0.01957	.	0.564723	0.14741	N	0.301159	T	0.01353	0.0044	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39981	-0.9587	9	.	.	.	0.7271	2.975	0.05935	0.1637:0.1533:0.1699:0.5131	.	1729	Q92576	PHF3_HUMAN	H	1729	ENSP00000262043:Q1729H;ENSP00000377048:Q1729H	.	Q	+	3	2	PHF3	64480630	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.510000	0.06328	-1.396000	0.02071	-1.856000	0.00563	CAG		0.388	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64423356	64423356	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:64423356G>T	ENST00000262043.3	+	16	6212	c.5872G>T	c.(5872-5874)Gac>Tac	p.D1958Y	PHF3_ENST00000393387.1_Missense_Mutation_p.D1958Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1958					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D1958Y(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			caaggacagagacagaaaaag	0.453																																					p.D1958Y	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5872T	6						.						94.0	99.0	97.0					6																	64423356		2203	4300	6503	64481315	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5872G>T	6.37:g.64423356G>T	ENSP00000262043:p.Asp1958Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64481315	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636639	0.29068	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21932	1.98;1.98	5.75	4.89	0.63831	.	0.000000	0.39909	N	0.001232	T	0.19765	0.0475	L	0.27053	0.805	0.48185	D	0.999605	D	0.89917	1.0	D	0.67231	0.95	T	0.03545	-1.1026	9	.	.	.	-14.9687	14.8832	0.70547	0.0688:0.0:0.9312:0.0	.	1958	Q92576	PHF3_HUMAN	Y	1958	ENSP00000262043:D1958Y;ENSP00000377048:D1958Y	.	D	+	1	0	PHF3	64481315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.341000	0.72977	1.439000	0.47511	0.655000	0.94253	GAC		0.453	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
EYS	346007	broad.mit.edu	37	6	66112361	66112361	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:66112361T>G	ENST00000370621.3	-	7	1711				EYS_ENST00000342421.5_Intron|EYS_ENST00000503581.1_Intron|EYS_ENST00000370618.3_Intron|EYS_ENST00000393380.2_Intron|EYS_ENST00000370616.2_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.?(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAACAGAAAATTAATTATACC	0.279																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	6						.						29.0	32.0	31.0					6																	66112361		2198	4264	6462	66169082	SO:0001627	intron_variant	346007	.				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1184+9A>C	6.37:g.66112361T>G		Somatic		Capture	Illumina HiSeq	Phase_I	66169082	.	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Intron	SNP	ENST00000370621.3	37																																																																																					0.279	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	broad.mit.edu	37	6	69703739	69703739	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:69703739T>C	ENST00000370598.1	+	11	2635	c.1814T>C	c.(1813-1815)tTa>tCa	p.L605S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	605					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L605S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTTGGATTTAACTCAGAGA	0.448																																					p.L605S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1814C	6						.						178.0	186.0	184.0					6																	69703739		2203	4300	6503	69760460	SO:0001583	missense	577	exon11			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1814T>C	6.37:g.69703739T>C	ENSP00000359630:p.Leu605Ser	Somatic		Capture	Illumina HiSeq	Phase_I	69760460	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944120	0.73672	.	.	ENSG00000135298	ENST00000370598	T	0.10099	2.91	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.000000	0.64402	D	0.000005	T	0.17746	0.0426	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.00950	-1.1503	10	0.45353	T	0.12	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	605	O60242	BAI3_HUMAN	S	605	ENSP00000359630:L605S	ENSP00000359630:L605S	L	+	2	0	BAI3	69760460	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.072000	0.64389	2.320000	0.78422	0.528000	0.53228	TTA		0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
B3GAT2	135152	broad.mit.edu	37	6	71571554	71571554	+	Silent	SNP	C	C	T	rs368372004		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:71571554C>T	ENST00000230053.6	-	3	1472	c.864G>A	c.(862-864)ccG>ccA	p.P288P	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	288					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.P288P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TATTTGCTTTCGGTTCCAGTT	0.463																																					p.P288P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G864A	6						.	C	,,	0,4406		0,0,2203	208.0	206.0	207.0		,,864	-11.0	0.2	6		207	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3,coding-synonymous	SMAP1,B3GAT2	NM_001044305.1,NM_021940.3,NM_080742.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,288/324	71571554	1,13005	2203	4300	6503	71628275	SO:0001819	synonymous_variant	135152	exon3			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.864G>A	6.37:g.71571554C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71628275	NM_080742	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																				0.463	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742	
RIMS1	22999	broad.mit.edu	37	6	72889584	72889584	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:72889584T>C	ENST00000521978.1	+	5	778	c.778T>C	c.(778-780)Tca>Cca	p.S260P	RIMS1_ENST00000522291.1_Missense_Mutation_p.S260P|RIMS1_ENST00000520567.1_Missense_Mutation_p.S260P|RIMS1_ENST00000491071.2_Missense_Mutation_p.S260P|RIMS1_ENST00000348717.5_Missense_Mutation_p.S260P|RIMS1_ENST00000264839.7_Missense_Mutation_p.S260P|RIMS1_ENST00000517960.1_Missense_Mutation_p.S260P|RIMS1_ENST00000518273.1_Missense_Mutation_p.S260P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	260					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S260P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGCAGGCTTCATCCAGGTC	0.542																																					p.S260P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T778C	6						.						29.0	32.0	31.0					6																	72889584		2010	4170	6180	72946305	SO:0001583	missense	22999	exon5			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.778T>C	6.37:g.72889584T>C	ENSP00000428417:p.Ser260Pro	Somatic		Capture	Illumina HiSeq	Phase_I	72946305	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452941	0.43531	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15256	2.44;2.59;2.52;2.59;2.59;2.58;2.57;2.5	5.39	-0.187	0.13268	.	0.249082	0.28047	N	0.016814	T	0.07683	0.0193	L	0.47716	1.5	0.80722	D	1	P	0.40398	0.716	B	0.38106	0.265	T	0.10428	-1.0630	10	0.54805	T	0.06	-1.2276	14.3552	0.66733	0.0:0.0:0.5025:0.4975	.	260	Q86UR5	RIMS1_HUMAN	P	260	ENSP00000430101:S260P;ENSP00000275037:S260P;ENSP00000264839:S260P;ENSP00000429959:S260P;ENSP00000430408:S260P;ENSP00000430502:S260P;ENSP00000430932:S260P;ENSP00000428417:S260P	ENSP00000264839:S260P	S	+	1	0	RIMS1	72946305	0.998000	0.40836	0.025000	0.17156	0.680000	0.39746	2.396000	0.44468	-0.264000	0.09365	-0.460000	0.05396	TCA		0.542	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	72960802	72960802	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:72960802T>C	ENST00000521978.1	+	14	2544				RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGGTGATGTATATTTTAAA	0.284																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						58.0	54.0	55.0					6																	72960802		1799	4064	5863	73017523	SO:0001627	intron_variant	22999	.			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2544+7T>C	6.37:g.72960802T>C		Somatic		Capture	Illumina HiSeq	Phase_I	73017523	.	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Intron	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.284	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	73000508	73000508	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:73000508T>G	ENST00000521978.1	+	25	3681	c.3681T>G	c.(3679-3681)tgT>tgG	p.C1227W	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1227					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.C1227W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAACACTGTGTTCTATGCACC	0.567																																					p.C1227W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3681G	6						.						91.0	93.0	92.0					6																	73000508		2104	4219	6323	73057229	SO:0001583	missense	22999	exon25			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3681T>G	6.37:g.73000508T>G	ENSP00000428417:p.Cys1227Trp	Somatic		Capture	Illumina HiSeq	Phase_I	73057229	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835341	0.50951	.	.	ENSG00000079841	ENST00000521978	T	0.13657	2.57	5.75	0.662	0.17880	.	0.203903	0.36519	N	0.002543	T	0.03739	0.0106	N	0.08118	0	0.80722	D	1	D	0.58620	0.983	P	0.53006	0.715	T	0.44937	-0.9295	10	0.37606	T	0.19	-14.8347	5.2643	0.15591	0.0:0.2931:0.1443:0.5625	.	1227	Q86UR5	RIMS1_HUMAN	W	1227	ENSP00000428417:C1227W	ENSP00000428417:C1227W	C	+	3	2	RIMS1	73057229	0.999000	0.42202	0.999000	0.59377	0.972000	0.66771	0.256000	0.18351	0.100000	0.17581	-0.250000	0.11733	TGT		0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
KCNQ5	56479	broad.mit.edu	37	6	73904501	73904501	+	Silent	SNP	C	C	T	rs150628078		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:73904501C>T	ENST00000370398.1	+	14	2272	c.2163C>T	c.(2161-2163)agC>agT	p.S721S	KCNQ5_ENST00000402622.2_Silent_p.S731S|KCNQ5_ENST00000414165.2_Silent_p.S611S|KCNQ5_ENST00000342056.2_Silent_p.S740S|KCNQ5_ENST00000355194.4_Silent_p.S721S|KCNQ5_ENST00000403813.2_Silent_p.S712S|KCNQ5_ENST00000355635.3_Silent_p.S722S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	721					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S721S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTAGTCAAAGCGATGGCTCAG	0.512																																					p.S740S	GBM(142;1375 1859 14391 23261 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2220T	6						.	C	,,,,	0,4406		0,0,2203	113.0	110.0	111.0		2136,2193,2220,1833,2163	-9.1	0.0	6	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	712/924,731/943,740/952,611/823,721/933	73904501	1,13005	2203	4300	6503	73961222	SO:0001819	synonymous_variant	56479	exon15			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2163C>T	6.37:g.73904501C>T		Somatic		Capture	Illumina HiSeq	Phase_I	73961222	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																				0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
OOEP	441161	broad.mit.edu	37	6	74079353	74079353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:74079353C>A	ENST00000370359.5	-	1	162	c.163G>T	c.(163-165)Gag>Tag	p.E55*	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	55	KH; atypical.				cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)	p.E55*(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCATGCCTCTAGGTAGAAC	0.602																																					p.E55X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G163T	6						.						77.0	81.0	80.0					6																	74079353		2031	4201	6232	74136074	SO:0001587	stop_gained	441161	exon1			BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.163G>T	6.37:g.74079353C>A	ENSP00000359384:p.Glu55*	Somatic		Capture	Illumina HiSeq	Phase_I	74136074	NM_001080507	A6NIN5|A9UIB7	Nonsense_Mutation	SNP	ENST00000370359.5	37	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677838	0.47886	.	.	ENSG00000203907	ENST00000370359	.	.	.	3.67	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.4473	0.16541	0.0:0.7995:0.0:0.2005	.	.	.	.	X	55	.	ENSP00000359384:E55X	E	-	1	0	OOEP	74136074	0.088000	0.21588	0.071000	0.20095	0.009000	0.06853	1.986000	0.40677	0.874000	0.35823	0.655000	0.94253	GAG		0.602	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507	
MB21D1	115004	broad.mit.edu	37	6	74155427	74155427	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:74155427A>G	ENST00000370315.3	-	2	795	c.701T>C	c.(700-702)gTc>gCc	p.V234A	MB21D1_ENST00000370318.1_Missense_Mutation_p.V234A	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	234					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V234A(1)		central_nervous_system(1)|large_intestine(4)|lung(1)	6						AATTCTGGGGACTTCCAGTTT	0.308																																					p.V234A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T701C	6						.						36.0	37.0	37.0					6																	74155427		2200	4291	6491	74212148	SO:0001583	missense	115004	exon2			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.701T>C	6.37:g.74155427A>G	ENSP00000359339:p.Val234Ala	Somatic		Capture	Illumina HiSeq	Phase_I	74212148	NM_138441	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314057	0.23908	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.07327	3.2;3.2	5.09	2.58	0.30949	.	0.274659	0.28409	N	0.015447	T	0.04679	0.0127	M	0.73962	2.25	0.09310	N	1	P	0.52170	0.951	P	0.48334	0.574	T	0.32188	-0.9916	10	0.16896	T	0.51	-4.7316	6.1996	0.20569	0.7361:0.1767:0.0872:0.0	.	234	Q8N884	M21D1_HUMAN	A	234	ENSP00000359342:V234A;ENSP00000359339:V234A	ENSP00000296913:V234A	V	-	2	0	MB21D1	74212148	0.008000	0.16893	0.059000	0.19551	0.048000	0.14542	1.970000	0.40520	0.313000	0.23062	0.379000	0.24179	GTC		0.308	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441	
CD109	135228	broad.mit.edu	37	6	74477802	74477802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:74477802G>A	ENST00000287097.5	+	14	1634	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	CD109_ENST00000437994.2_Missense_Mutation_p.A508T|CD109_ENST00000422508.2_Missense_Mutation_p.A431T			Q6YHK3	CD109_HUMAN	CD109 molecule	508					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.A508T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGTTGGTGGCTGTAGGAAA	0.363																																					p.A508T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1522A	6						.						95.0	101.0	99.0					6																	74477802		2203	4300	6503	74534523	SO:0001583	missense	135228	exon14			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1522G>A	6.37:g.74477802G>A	ENSP00000287097:p.Ala508Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74534523	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313758	0.60414	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.63417	-0.04;-0.04;-0.04	4.61	3.71	0.42584	Alpha-2-macroglobulin, N-terminal 2 (1);	0.362609	0.29145	N	0.013015	T	0.44477	0.1295	L	0.31926	0.97	0.34459	D	0.701501	P;D;B;B	0.57899	0.811;0.981;0.452;0.392	B;P;B;B	0.53224	0.331;0.721;0.07;0.261	T	0.35549	-0.9784	10	0.15952	T	0.53	.	13.0694	0.59053	0.0:0.0:0.8376:0.1624	.	431;508;508;508	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	T	508;431;508	ENSP00000388062:A508T;ENSP00000404475:A431T;ENSP00000287097:A508T	ENSP00000287097:A508T	A	+	1	0	CD109	74534523	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.051000	0.41307	1.253000	0.44018	0.313000	0.20887	GCT		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
CD109	135228	broad.mit.edu	37	6	74498258	74498258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:74498258G>A	ENST00000287097.5	+	22	2736	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	CD109_ENST00000437994.2_Missense_Mutation_p.S875N|CD109_ENST00000422508.2_Missense_Mutation_p.S798N			Q6YHK3	CD109_HUMAN	CD109 molecule	875					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.S875N(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGCTACAGAGTACCCTGAAA	0.358																																					p.S875N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2624A	6						.						97.0	97.0	97.0					6																	74498258		2203	4300	6503	74554979	SO:0001583	missense	135228	exon22			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2624G>A	6.37:g.74498258G>A	ENSP00000287097:p.Ser875Asn	Somatic		Capture	Illumina HiSeq	Phase_I	74554979	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	3.692	-0.063280	0.07273	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23348	1.91;2.13;1.92	5.22	0.0205	0.14125	.	0.728375	0.13884	N	0.356106	T	0.04137	0.0115	N	0.10972	0.075	0.09310	N	1	B;B;B	0.16802	0.019;0.001;0.001	B;B;B	0.16289	0.015;0.006;0.001	T	0.39800	-0.9596	10	0.54805	T	0.06	.	7.5986	0.28063	0.1183:0.359:0.4553:0.0673	.	798;875;875	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	N	875;798;875	ENSP00000388062:S875N;ENSP00000404475:S798N;ENSP00000287097:S875N	ENSP00000287097:S875N	S	+	2	0	CD109	74554979	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	0.296000	0.19083	-0.208000	0.10171	0.655000	0.94253	AGT		0.358	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	broad.mit.edu	37	6	75827140	75827140	+	Missense_Mutation	SNP	C	C	T	rs372985511		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:75827140C>T	ENST00000322507.8	-	47	7786	c.7477G>A	c.(7477-7479)Gaa>Aaa	p.E2493K	COL12A1_ENST00000483888.2_Missense_Mutation_p.E2493K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E1329K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E2493K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2493	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E2493K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGATTGTCTTCGATCTTCTCA	0.393																																					p.E1329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3985A	6						.	C	LYS/GLU,LYS/GLU	1,3865		0,1,1932	108.0	108.0	108.0		7477,3985	5.6	0.9	6		108	0,8282		0,0,4141	no	missense,missense	COL12A1	NM_004370.5,NM_080645.2	56,56	0,1,6073	TT,TC,CC		0.0,0.0259,0.0082	benign,benign	2493/3064,1329/1900	75827140	1,12147	1933	4141	6074	75883860	SO:0001583	missense	1303	exon32			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7477G>A	6.37:g.75827140C>T	ENSP00000325146:p.Glu2493Lys	Somatic		Capture	Illumina HiSeq	Phase_I	75883860	NM_080645	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263032	0.39995	2.59E-4	0.0	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.61	5.61	0.85477	von Willebrand factor, type A (3);	0.113928	0.64402	D	0.000019	T	0.62380	0.2423	L	0.45137	1.4	0.35866	D	0.827831	B;B	0.23316	0.079;0.083	B;B	0.17098	0.016;0.017	T	0.63247	-0.6680	10	0.51188	T	0.08	.	16.4926	0.84206	0.0:0.8606:0.1394:0.0	.	1329;2493	Q99715-2;Q99715	.;COCA1_HUMAN	K	2493;131;2493;1329;2493;2493;47	ENSP00000325146:E2493K;ENSP00000399812:E131K;ENSP00000305147:E1329K;ENSP00000412864:E2493K;ENSP00000421216:E2493K;ENSP00000423423:E47K	ENSP00000325146:E2493K	E	-	1	0	COL12A1	75883860	0.992000	0.36948	0.922000	0.36590	0.972000	0.66771	2.544000	0.45761	2.802000	0.96397	0.655000	0.94253	GAA		0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75855879	75855879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:75855879G>A	ENST00000322507.8	-	24	4808	c.4499C>T	c.(4498-4500)gCt>gTt	p.A1500V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A1500V|COL12A1_ENST00000345356.6_Missense_Mutation_p.A336V|COL12A1_ENST00000416123.2_Missense_Mutation_p.A1500V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1500	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A1500G(1)|p.A1500V(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTAGCCAGTAGCTCCTCCCAC	0.463																																					p.A336V												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1007T	6						.						92.0	91.0	92.0					6																	75855879		1980	4184	6164	75912599	SO:0001583	missense	1303	exon9			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4499C>T	6.37:g.75855879G>A	ENSP00000325146:p.Ala1500Val	Somatic		Capture	Illumina HiSeq	Phase_I	75912599	NM_080645	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418813	0.83559	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.08	4.2	0.49525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.082161	0.50627	D	0.000107	T	0.36468	0.0968	L	0.28694	0.88	0.50313	D	0.99986	P;D	0.55605	0.67;0.972	B;P	0.56216	0.303;0.794	T	0.11916	-1.0568	10	0.09590	T	0.72	.	12.9249	0.58254	0.0785:0.0:0.9215:0.0	.	336;1500	Q99715-2;Q99715	.;COCA1_HUMAN	V	1500;1500;336;1500;1500	ENSP00000325146:A1500V;ENSP00000305147:A336V;ENSP00000412864:A1500V;ENSP00000421216:A1500V	ENSP00000325146:A1500V	A	-	2	0	COL12A1	75912599	1.000000	0.71417	0.945000	0.38365	0.923000	0.55619	6.898000	0.75676	2.358000	0.79984	0.655000	0.94253	GCT		0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75875453	75875453	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:75875453T>G	ENST00000322507.8	-	14	3062	c.2753A>C	c.(2752-2754)gAc>gCc	p.D918A	COL12A1_ENST00000483888.2_Missense_Mutation_p.D918A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.D918A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	918	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D918A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTGATGTGTCAGTGATGTC	0.373																																					p.D918A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2753C	6						.						101.0	92.0	95.0					6																	75875453		1859	4111	5970	75932173	SO:0001583	missense	1303	exon14			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2753A>C	6.37:g.75875453T>G	ENSP00000325146:p.Asp918Ala	Somatic		Capture	Illumina HiSeq	Phase_I	75932173	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.158894	0.57368	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56103	0.48;0.48;0.48	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.50837	0.1639	L	0.45285	1.41	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.48864	-0.8997	10	0.11182	T	0.66	.	15.2405	0.73465	0.0:0.0:0.0:1.0	.	918	Q99715	COCA1_HUMAN	A	918	ENSP00000325146:D918A;ENSP00000412864:D918A;ENSP00000421216:D918A	ENSP00000325146:D918A	D	-	2	0	COL12A1	75932173	1.000000	0.71417	0.993000	0.49108	0.876000	0.50452	5.704000	0.68347	1.997000	0.58415	0.460000	0.39030	GAC		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75893251	75893251	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:75893251C>A	ENST00000322507.8	-	10	1715	c.1406G>T	c.(1405-1407)aGt>aTt	p.S469I	COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	469	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S469I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTTCAAAACTTTTTACAAG	0.358																																					p.S469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	6						.						64.0	62.0	63.0					6																	75893251		1821	4074	5895	75949971	SO:0001583	missense	1303	exon10			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1406G>T	6.37:g.75893251C>A	ENSP00000325146:p.Ser469Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75949971	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005357	0.74932	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79033	-1.23;-1.23;-1.23	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.64567	1.98	0.41634	D	0.989038	D;D	0.56521	0.976;0.976	P;P	0.57057	0.812;0.812	D	0.83619	0.0138	10	0.72032	D	0.01	.	19.7404	0.96228	0.0:1.0:0.0:0.0	.	469;469	D6RGG3;Q99715	.;COCA1_HUMAN	I	469	ENSP00000325146:S469I;ENSP00000412864:S469I;ENSP00000421216:S469I	ENSP00000325146:S469I	S	-	2	0	COL12A1	75949971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.107000	0.71517	2.734000	0.93682	0.655000	0.94253	AGT		0.358	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75904570	75904570	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:75904570C>A	ENST00000322507.8	-	3	476	c.167G>T	c.(166-168)aGa>aTa	p.R56I	COL12A1_ENST00000483888.2_Missense_Mutation_p.R56I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R56I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	56	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R56I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CACCGTTATTCTGTAACCCAC	0.398																																					p.R56I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167T	6						.						120.0	116.0	117.0					6																	75904570		1839	4091	5930	75961290	SO:0001583	missense	1303	exon3			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.167G>T	6.37:g.75904570C>A	ENSP00000325146:p.Arg56Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75961290	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387106	0.82902	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.58797	0.31;0.31;0.31	5.77	2.98	0.34508	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.229549	0.37530	N	0.002057	T	0.42832	0.1220	L	0.60455	1.87	0.53688	D	0.999977	P	0.39311	0.667	P	0.44394	0.448	T	0.44190	-0.9344	10	0.87932	D	0	.	8.2786	0.31887	0.0:0.6917:0.0:0.3083	.	56	Q99715	COCA1_HUMAN	I	56	ENSP00000325146:R56I;ENSP00000412864:R56I;ENSP00000421216:R56I	ENSP00000325146:R56I	R	-	2	0	COL12A1	75961290	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	0.998000	0.29744	0.335000	0.23614	0.650000	0.86243	AGA		0.398	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
FILIP1	27145	broad.mit.edu	37	6	76022168	76022168	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76022168C>A	ENST00000237172.7	-	5	3710	c.3380G>T	c.(3379-3381)aGc>aTc	p.S1127I	FILIP1_ENST00000393004.2_Missense_Mutation_p.S1127I|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S1028I	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1127								p.S1127I(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTGATAGTGCTCGTCACTTT	0.572																																					p.S1127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3380T	6						.						208.0	168.0	182.0					6																	76022168		2203	4300	6503	76078888	SO:0001583	missense	27145	exon5			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3380G>T	6.37:g.76022168C>A	ENSP00000237172:p.Ser1127Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76078888	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260925	0.80246	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.36699	1.27;1.24;1.25	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.942;0.974	T	0.55692	-0.8101	10	0.66056	D	0.02	-16.5915	19.9705	0.97284	0.0:1.0:0.0:0.0	.	1127;1127;1127	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	I	1127;1127;1028	ENSP00000376728:S1127I;ENSP00000237172:S1127I;ENSP00000359037:S1028I	ENSP00000237172:S1127I	S	-	2	0	FILIP1	76078888	1.000000	0.71417	0.999000	0.59377	0.520000	0.34377	6.070000	0.71220	2.728000	0.93425	0.655000	0.94253	AGC		0.572	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
FILIP1	27145	broad.mit.edu	37	6	76024925	76024925	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76024925A>C	ENST00000237172.7	-	5	960				FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000498523.1_Intron|FILIP1_ENST00000370020.1_Intron	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1									p.?(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAACCTAGAAAATAAAATATA	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						29.0	29.0	29.0					6																	76024925		2192	4296	6488	76081645	SO:0001627	intron_variant	27145	.			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.630-7T>G	6.37:g.76024925A>C		Somatic		Capture	Illumina HiSeq	Phase_I	76081645	.	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Intron	SNP	ENST00000237172.7	37	CCDS4984.1																																																																																				0.294	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
MYO6	4646	broad.mit.edu	37	6	76532553	76532553	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76532553G>T	ENST00000369977.3	+	3	311	c.172G>T	c.(172-174)Gat>Tat	p.D58Y	MYO6_ENST00000369975.1_Missense_Mutation_p.D58Y|MYO6_ENST00000369985.4_Missense_Mutation_p.D58Y|MYO6_ENST00000369981.3_Missense_Mutation_p.D58Y	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	58	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.D58Y(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGTAAAAAAGATGTGGAAGA	0.318																																					p.D58Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172T	6						.						113.0	111.0	111.0					6																	76532553		2203	4299	6502	76589273	SO:0001583	missense	4646	exon3			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.172G>T	6.37:g.76532553G>T	ENSP00000358994:p.Asp58Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	76589273	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061650	0.76187	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.92	5.92	0.95590	.	0.049609	0.85682	D	0.000000	T	0.80116	0.4564	M	0.81497	2.545	0.58432	D	0.999995	D;P	0.71674	0.998;0.948	P;P	0.61003	0.882;0.575	T	0.81718	-0.0805	10	0.62326	D	0.03	.	15.7738	0.78193	0.0:0.1354:0.8646:0.0	.	58;58	Q9UM54-2;Q9UM54-1	.;.	Y	58	ENSP00000358998:D58Y;ENSP00000359002:D58Y;ENSP00000358994:D58Y;ENSP00000358992:D58Y	ENSP00000358992:D58Y	D	+	1	0	MYO6	76589273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.753000	0.62183	2.822000	0.97130	0.650000	0.86243	GAT		0.318	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
MYO6	4646	broad.mit.edu	37	6	76621388	76621388	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76621388G>T	ENST00000369977.3	+	33	3551		c.e33-1		MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369985.4_Splice_Site|MYO6_ENST00000369981.3_Intron	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTGTTCACAGATTTTGCACC	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						76.0	76.0	76.0					6																	76621388		2203	4297	6500	76678108	SO:0001630	splice_region_variant	4646	.			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3413-1G>T	6.37:g.76621388G>T		Somatic		Capture	Illumina HiSeq	Phase_I	76678108	.	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479663	0.84747	.	.	ENSG00000196586	ENST00000428345;ENST00000369985;ENST00000369977	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76678108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.194000	0.77789	2.814000	0.96858	0.563000	0.77884	.		0.323	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	Intron
MYO6	4646	broad.mit.edu	37	6	76623878	76623878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76623878G>A	ENST00000369977.3	+	34	3677	c.3538G>A	c.(3538-3540)Gac>Aac	p.D1180N	MYO6_ENST00000369975.1_Missense_Mutation_p.D1148N|MYO6_ENST00000369985.4_Missense_Mutation_p.D1157N|MYO6_ENST00000369981.3_Missense_Mutation_p.D1181N	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1189					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.D1180N(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCGCCCTGCCGACCAGTACAA	0.532																																					p.D1180N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3538A	6						.						140.0	146.0	144.0					6																	76623878		2203	4300	6503	76680598	SO:0001583	missense	4646	exon34			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3538G>A	6.37:g.76623878G>A	ENSP00000358994:p.Asp1180Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76680598	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286798	0.80803	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89343	-2.47;-2.46;-2.43;-2.5	5.89	5.89	0.94794	.	0.046341	0.85682	D	0.000000	D	0.91229	0.7236	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	0.964;1.0	B;D	0.87578	0.364;0.998	D	0.89609	0.3840	10	0.40728	T	0.16	.	20.2437	0.98389	0.0:0.0:1.0:0.0	.	1157;1180	Q9UM54-2;Q9UM54-1	.;.	N	1190;1181;1157;1180;1148	ENSP00000358998:D1181N;ENSP00000359002:D1157N;ENSP00000358994:D1180N;ENSP00000358992:D1148N	ENSP00000358992:D1148N	D	+	1	0	MYO6	76680598	1.000000	0.71417	0.969000	0.41365	0.981000	0.71138	9.443000	0.97568	2.778000	0.95560	0.655000	0.94253	GAC		0.532	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
IMPG1	3617	broad.mit.edu	37	6	76751634	76751634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76751634G>A	ENST00000369950.3	-	2	466	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.L93F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TAAGCTTGAAGACTGTCTAAA	0.388																																					p.L93F	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277T	6						.						86.0	84.0	85.0					6																	76751634		2203	4300	6503	76808354	SO:0001583	missense	3617	exon2			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.277C>T	6.37:g.76751634G>A	ENSP00000358966:p.Leu93Phe	Somatic		Capture	Illumina HiSeq	Phase_I	76808354	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845251	0.71603	.	.	ENSG00000112706	ENST00000369950	T	0.77620	-1.11	6.07	5.19	0.71726	.	0.117465	0.37906	N	0.001891	T	0.80259	0.4590	L	0.56769	1.78	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.80527	-0.1343	9	.	.	.	.	16.5444	0.84410	0.0:0.0:0.8684:0.1316	.	93	Q17R60	IMPG1_HUMAN	F	93	ENSP00000358966:L93F	.	L	-	1	0	IMPG1	76808354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.998000	0.70653	1.513000	0.48852	0.655000	0.94253	CTT		0.388	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
IMPG1	3617	broad.mit.edu	37	6	76782165	76782165	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:76782165A>C	ENST00000369950.3	-	1	230	c.41T>G	c.(40-42)aTt>aGt	p.I14S	IMPG1_ENST00000369963.3_Missense_Mutation_p.I14S	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.I14S(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGGAGAAAAATCCAAAAAAC	0.299																																					p.I14S	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T41G	6						.						65.0	69.0	68.0					6																	76782165		2200	4289	6489	76838885	SO:0001583	missense	3617	exon1			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.41T>G	6.37:g.76782165A>C	ENSP00000358966:p.Ile14Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76838885	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762299	0.49468	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;D	0.82893	1.84;-1.66	5.51	5.51	0.81932	.	0.576725	0.15788	N	0.244602	D	0.82972	0.5153	L	0.44542	1.39	0.25221	N	0.989904	D	0.89917	1.0	D	0.69307	0.963	T	0.77477	-0.2573	9	.	.	.	.	15.3037	0.73976	1.0:0.0:0.0:0.0	.	14	Q17R60	IMPG1_HUMAN	S	14	ENSP00000358966:I14S;ENSP00000358980:I14S	.	I	-	2	0	IMPG1	76838885	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.090000	0.71397	2.087000	0.62958	0.455000	0.32223	ATT		0.299	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
HTR1B	3351	broad.mit.edu	37	6	78173081	78173081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:78173081C>T	ENST00000369947.2	-	1	409	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	14					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A14T(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGGAGCCCGCGGGCGGCGGT	0.642																																					p.A14T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G40A	6						.						65.0	69.0	67.0					6																	78173081		2203	4300	6503	78229800	SO:0001583	missense	3351	exon1			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.40G>A	6.37:g.78173081C>T	ENSP00000358963:p.Ala14Thr	Somatic		Capture	Illumina HiSeq	Phase_I	78229800	NM_000863	Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397324	0.25205	.	.	ENSG00000135312	ENST00000369947	T	0.61627	0.09	5.31	3.26	0.37387	.	0.592084	0.14695	N	0.303937	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.15052	0.012	T	0.14504	-1.0470	9	.	.	.	.	9.102	0.36673	0.1542:0.5763:0.2695:0.0	.	14	P28222	5HT1B_HUMAN	T	14	ENSP00000358963:A14T	.	A	-	1	0	HTR1B	78229800	0.157000	0.22836	0.045000	0.18777	0.160000	0.22226	1.523000	0.35932	1.202000	0.43218	0.561000	0.74099	GCG		0.642	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863	
PHIP	55023	broad.mit.edu	37	6	79650745	79650745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:79650745G>A	ENST00000275034.4	-	40	5298	c.5131C>T	c.(5131-5133)Cgt>Tgt	p.R1711C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1711					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.R1711C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTACCTCCACGATTCTTTTTC	0.373																																					p.R1711C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5131T	6						.						153.0	144.0	147.0					6																	79650745		2203	4300	6503	79707464	SO:0001583	missense	55023	exon40			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5131C>T	6.37:g.79650745G>A	ENSP00000275034:p.Arg1711Cys	Somatic		Capture	Illumina HiSeq	Phase_I	79707464	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958372	0.53400	.	.	ENSG00000146247	ENST00000275034	T	0.46063	0.88	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56474	0.799;0.799	T	0.03043	-1.1079	9	.	.	.	-13.5441	15.1487	0.72681	0.0:0.1405:0.8595:0.0	.	1711;1711	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	1711	ENSP00000275034:R1711C	.	R	-	1	0	PHIP	79707464	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.162000	0.64942	2.890000	0.99128	0.650000	0.86243	CGT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79692617	79692617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:79692617C>A	ENST00000275034.4	-	23	2922	c.2755G>T	c.(2755-2757)Gaa>Taa	p.E919*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	919	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E919*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		tgttttctttctttgggcttc	0.289																																					p.E919X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2755T	6						.						46.0	43.0	44.0					6																	79692617		2199	4292	6491	79749336	SO:0001587	stop_gained	55023	exon23			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2755G>T	6.37:g.79692617C>A	ENSP00000275034:p.Glu919*	Somatic		Capture	Illumina HiSeq	Phase_I	79749336	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	43	10.324001	0.99383	.	.	ENSG00000146247	ENST00000275034	.	.	.	4.95	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8477	12.5232	0.56072	0.0:0.9183:0.0:0.0817	.	.	.	.	X	919	.	.	E	-	1	0	PHIP	79749336	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.737000	0.68606	1.075000	0.40932	0.460000	0.39030	GAA		0.289	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:79697996C>T	ENST00000275034.4	-	21	2557	c.2390G>A	c.(2389-2391)cGt>cAt	p.R797H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.R797H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATCTTGTACGATAATTGTG	0.338																																					p.R797H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2390A	6						.						175.0	165.0	168.0					6																	79697996		2203	4300	6503	79754715	SO:0001583	missense	55023	exon21			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2390G>A	6.37:g.79697996C>T	ENSP00000275034:p.Arg797His	Somatic		Capture	Illumina HiSeq	Phase_I	79754715	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453945	0.63290	.	.	ENSG00000146247	ENST00000275034	T	0.43294	0.95	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.19525	0.0469	L	0.41236	1.265	0.50467	D	0.999879	B;B	0.19331	0.035;0.035	B;B	0.08055	0.003;0.003	T	0.04103	-1.0977	9	.	.	.	-11.4115	15.0893	0.72180	0.0:1.0:0.0:0.0	.	797;797	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	797	ENSP00000275034:R797H	.	R	-	2	0	PHIP	79754715	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	2.902000	0.48703	2.296000	0.77279	0.585000	0.79938	CGT		0.338	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
IBTK	25998	broad.mit.edu	37	6	82925890	82925890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:82925890G>A	ENST00000306270.7	-	11	2053	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	IBTK_ENST00000503631.1_Nonsense_Mutation_p.R502*|IBTK_ENST00000510291.1_Nonsense_Mutation_p.R502*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	502					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.R502*(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTCTCAAGTCGAATTCTTTCA	0.358																																					p.R502X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1504T	6						.						93.0	86.0	89.0					6																	82925890		2203	4300	6503	82982609	SO:0001587	stop_gained	25998	exon11			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1504C>T	6.37:g.82925890G>A	ENSP00000305721:p.Arg502*	Somatic		Capture	Illumina HiSeq	Phase_I	82982609	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Nonsense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	38	7.261429	0.98171	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	6.06	5.17	0.71159	.	0.120853	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-8.3568	12.3342	0.55056	0.0:0.1278:0.7394:0.1328	.	.	.	.	X	502	.	ENSP00000305721:R502X	R	-	1	2	IBTK	82982609	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.006000	0.70724	2.880000	0.98712	0.650000	0.86243	CGA		0.358	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
RWDD2A	112611	broad.mit.edu	37	6	83900572	83900572	+	5'Flank	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:83900572T>G	ENST00000369724.4	+	0	0				RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.K54Q|PGM3_ENST00000513973.1_Missense_Mutation_p.K54Q|PGM3_ENST00000506587.1_Missense_Mutation_p.K82Q	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A									p.K54Q(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATAGTGGATTTTGTCTGTTTT	0.443																																					p.K54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A160C	6						.						218.0	183.0	195.0					6																	83900572		2203	4300	6503	83957291	SO:0001631	upstream_gene_variant	5238	exon2			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900572T>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	83957291	NM_015599	B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966011	0.34659	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.76	4.58	0.56647	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.282726	0.43110	N	0.000604	T	0.32102	0.0818	L	0.39514	1.22	0.26916	N	0.966772	B;B	0.18013	0.025;0.002	B;B	0.23150	0.044;0.04	T	0.20075	-1.0286	10	0.41790	T	0.15	-25.2934	9.0068	0.36117	0.0:0.0667:0.1262:0.8071	.	82;54	E9PF86;O95394	.;AGM1_HUMAN	Q	54;54;82;54;82;82	ENSP00000424874:K54Q;ENSP00000421565:K54Q;ENSP00000425809:K82Q;ENSP00000425558:K54Q;ENSP00000424865:K82Q;ENSP00000422362:K82Q	ENSP00000422362:K82Q	K	-	1	0	PGM3	83957291	0.999000	0.42202	0.840000	0.33206	0.740000	0.42216	3.233000	0.51311	0.964000	0.38108	0.533000	0.62120	AAA		0.443	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411	
PRSS35	167681	broad.mit.edu	37	6	84234148	84234148	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:84234148G>A	ENST00000369700.3	+	2	1165	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	PRSS35_ENST00000536636.1_Missense_Mutation_p.E330K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	330	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.E330K(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGTGTCCGACGAATCCAATGA	0.478																																					p.E330K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	6						.						123.0	123.0	123.0					6																	84234148		2203	4300	6503	84290867	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.988G>A	6.37:g.84234148G>A	ENSP00000358714:p.Glu330Lys	Somatic		Capture	Illumina HiSeq	Phase_I	84290867	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551086	0.96501	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.102292	0.64402	D	0.000004	T	0.62684	0.2448	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63906	-0.6531	10	0.72032	D	0.01	-29.4269	20.2946	0.98546	0.0:0.0:1.0:0.0	.	330	Q8N3Z0	PRS35_HUMAN	K	330	ENSP00000440870:E330K;ENSP00000358714:E330K	ENSP00000358714:E330K	E	+	1	0	PRSS35	84290867	1.000000	0.71417	0.652000	0.29579	0.957000	0.61999	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GAA		0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
SNAP91	9892	broad.mit.edu	37	6	84303386	84303386	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:84303386T>C	ENST00000439399.2	-	18	1823	c.1507A>G	c.(1507-1509)Acc>Gcc	p.T503A	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.T501A|SNAP91_ENST00000521743.1_Missense_Mutation_p.T503A|SNAP91_ENST00000428679.2_Missense_Mutation_p.T503A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.T503A|SNAP91_ENST00000195649.6_Missense_Mutation_p.T503A|SNAP91_ENST00000369694.2_Missense_Mutation_p.T503A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	503	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.T503A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGAACACTGGTCTCAGGTGGC	0.572																																					p.T503A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1507G	6						.						38.0	44.0	42.0					6																	84303386		2115	4243	6358	84360105	SO:0001583	missense	9892	exon17			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1507A>G	6.37:g.84303386T>C	ENSP00000400459:p.Thr503Ala	Somatic		Capture	Illumina HiSeq	Phase_I	84360105	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.64|14.64	2.595654|2.595654	0.46318|0.46318	.|.	.|.	ENSG00000065609|ENSG00000065609	ENST00000369691|ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	.|T;T;T;T;T;T;T	.|0.16457	.|2.34;2.43;2.43;2.34;2.43;2.38;2.43	5.63|5.63	4.48|4.48	0.54585|0.54585	.|.	.|0.411464	.|0.30890	.|N	.|0.008665	T|T	0.05273|0.05273	0.0140|0.0140	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001	T|T	0.18335|0.18335	-1.0340|-1.0340	5|10	.|0.25751	.|T	.|0.34	-7.2909|-7.2909	11.0018|11.0018	0.47611|0.47611	0.0:0.0726:0.0:0.9274|0.0:0.0726:0.0:0.9274	.|.	.|384;501;503;501	.|B7Z2N2;E5RI02;O60641;E1P549	.|.;.;AP180_HUMAN;.	G|A	119|503;503;503;503;503;501;503;186	.|ENSP00000429776:T503A;ENSP00000358708:T503A;ENSP00000400459:T503A;ENSP00000195649:T503A;ENSP00000412492:T503A;ENSP00000428511:T501A;ENSP00000428215:T503A	.|ENSP00000195649:T503A	D|T	-|-	2|1	0|0	SNAP91|SNAP91	84360105|84360105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.167000|2.167000	0.42415|0.42415	2.138000|2.138000	0.66242|0.66242	0.379000|0.379000	0.24179|0.24179	GAC|ACC		0.572	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
RIPPLY2	134701	broad.mit.edu	37	6	84567103	84567103	+	Missense_Mutation	SNP	A	A	C	rs367809751		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:84567103A>C	ENST00000369689.1	+	4	533	c.382A>C	c.(382-384)Aat>Cat	p.N128H	CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Missense_Mutation_p.N70H	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	128					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)		p.N128H(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						GACCTGTGAAAATTAATCTGA	0.284																																					p.N128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A382C	6						.						53.0	58.0	56.0					6																	84567103		2194	4291	6485	84623822	SO:0001583	missense	134701	exon4			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.382A>C	6.37:g.84567103A>C	ENSP00000358703:p.Asn128His	Somatic		Capture	Illumina HiSeq	Phase_I	84623822	NM_001009994	Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891434	0.72524	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.52	5.52	0.82312	.	0.926930	0.09191	N	0.836000	T	0.43010	0.1228	N	0.22421	0.69	0.32118	N	0.588435	D	0.76494	0.999	D	0.69479	0.964	T	0.41716	-0.9493	9	0.87932	D	0	.	10.9141	0.47126	0.9276:0.0:0.0723:0.0	.	128	Q5TAB7	RIPP2_HUMAN	H	128;70	.	ENSP00000358701:N70H	N	+	1	0	RIPPLY2	84623822	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.633000	0.61318	2.320000	0.78422	0.528000	0.53228	AAT		0.284	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	
CEP162	22832	broad.mit.edu	37	6	84884952	84884952	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:84884952G>A	ENST00000403245.3	-	14	1892	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S517F	NM_014895.2	NP_055710.2												p.S593F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTGAATACAGGAATCAGTTTC	0.294																																					p.S593F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778T	6						.						50.0	48.0	48.0					6																	84884952		2065	3967	6032	84941671	SO:0001583	missense	22832	exon14																														ENST00000403245.3:c.1778C>T	6.37:g.84884952G>A	ENSP00000385215:p.Ser593Phe	Somatic		Capture	Illumina HiSeq	Phase_I	84941671	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011439	0.00422	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.19394	2.15;2.16	5.5	2.61	0.31194	.	0.465780	0.20753	N	0.086320	T	0.03871	0.0109	L	0.41236	1.265	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.002;0.009	T	0.44877	-0.9299	10	0.10111	T	0.7	4.8217	4.5994	0.12345	0.1951:0.0:0.6235:0.1814	.	593;593	Q5TB80;C9JFM9	QN1_HUMAN;.	F	517;593	ENSP00000257766:S517F;ENSP00000385215:S593F	ENSP00000257766:S517F	S	-	2	0	KIAA1009	84941671	0.013000	0.17824	0.001000	0.08648	0.066000	0.16364	0.671000	0.25172	0.305000	0.22832	-0.244000	0.11960	TCC		0.294	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
TBX18	9096	broad.mit.edu	37	6	85446469	85446469	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:85446469G>T	ENST00000369663.5	-	8	2095	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	586					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F586L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TAGAGTCAAAGAAACTCTGCT	0.493																																					p.F586L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1758A	6						.						58.0	58.0	58.0					6																	85446469		2203	4300	6503	85503188	SO:0001583	missense	9096	exon8			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1758C>A	6.37:g.85446469G>T	ENSP00000358677:p.Phe586Leu	Somatic		Capture	Illumina HiSeq	Phase_I	85503188	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758454	0.31137	.	.	ENSG00000112837	ENST00000369663	D	0.86297	-2.1	5.41	5.41	0.78517	.	0.232266	0.44285	D	0.000475	T	0.58906	0.2155	N	0.04508	-0.205	0.46416	D	0.999037	B	0.06786	0.001	B	0.04013	0.001	T	0.58741	-0.7583	10	0.20519	T	0.43	.	12.5259	0.56085	0.0765:0.0:0.9235:0.0	.	586	O95935	TBX18_HUMAN	L	586	ENSP00000358677:F586L	ENSP00000358677:F586L	F	-	3	2	TBX18	85503188	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.316000	0.59178	2.530000	0.85305	0.585000	0.79938	TTC		0.493	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
SYNCRIP	10492	broad.mit.edu	37	6	86324746	86324746	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:86324746C>T	ENST00000369622.3	-	11	2100	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	RP11-321N4.5_ENST00000503906.1_Silent_p.E69E|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G534S	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	534	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G534S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCTCGAACGCCTCTTGCTGAT	0.627																																					p.G436S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306A	6						.						127.0	135.0	132.0					6																	86324746		2203	4300	6503	86381465	SO:0001583	missense	10492	exon10			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1600G>A	6.37:g.86324746C>T	ENSP00000358635:p.Gly534Ser	Somatic		Capture	Illumina HiSeq	Phase_I	86381465	NM_001159673	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998570	0.19121	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.31769	1.53;1.48	5.39	4.5	0.54988	.	0.103621	0.64402	D	0.000004	T	0.18923	0.0454	M	0.61703	1.905	0.80722	D	1	B;P;B;B;P;B;B	0.36959	0.221;0.476;0.078;0.347;0.575;0.215;0.137	B;B;B;B;B;B;B	0.31812	0.016;0.036;0.017;0.039;0.136;0.036;0.01	T	0.06162	-1.0842	10	0.66056	D	0.02	.	15.2216	0.73316	0.1418:0.8582:0.0:0.0	.	534;499;436;382;499;534;534	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	S	534	ENSP00000347380:G534S;ENSP00000358635:G534S	ENSP00000347380:G534S	G	-	1	0	SYNCRIP	86381465	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.486000	0.66856	1.223000	0.43536	0.563000	0.77884	GGC		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372	
HTR1E	3354	broad.mit.edu	37	6	87725364	87725364	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87725364C>A	ENST00000305344.5	+	2	1015	c.312C>A	c.(310-312)acC>acA	p.T104T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	104	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T104T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGGACATGACCTGCTGCACCT	0.552																																					p.T104T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312A	6						.						133.0	108.0	116.0					6																	87725364		2203	4300	6503	87782083	SO:0001819	synonymous_variant	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.312C>A	6.37:g.87725364C>A		Somatic		Capture	Illumina HiSeq	Phase_I	87782083	NM_000865	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																				0.552	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
ZNF292	23036	broad.mit.edu	37	6	87928396	87928396	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87928396A>C	ENST00000369577.3	+	4	528	c.485A>C	c.(484-486)aAa>aCa	p.K162T	ZNF292_ENST00000339907.4_Missense_Mutation_p.K162T|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	162						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K22T(1)|p.K162T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGTGTGGAAAAACCCGGTA	0.363																																					p.K162T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A485C	6						.						42.0	42.0	42.0					6																	87928396		1827	4077	5904	87985115	SO:0001583	missense	23036	exon4			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.485A>C	6.37:g.87928396A>C	ENSP00000358590:p.Lys162Thr	Somatic		Capture	Illumina HiSeq	Phase_I	87985115	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142554	0.57044	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08458	3.09;3.1	5.06	5.06	0.68205	.	0.303369	0.38111	N	0.001802	T	0.06462	0.0166	L	0.50333	1.59	0.38175	D	0.939458	P;P	0.40731	0.7;0.728	B;B	0.41764	0.132;0.366	T	0.07009	-1.0795	10	0.72032	D	0.01	.	14.8325	0.70159	1.0:0.0:0.0:0.0	.	162;162	O60281;Q6ZW83	ZN292_HUMAN;.	T	162	ENSP00000358590:K162T;ENSP00000342847:K162T	ENSP00000342847:K162T	K	+	2	0	ZNF292	87985115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.543000	0.67225	1.907000	0.55213	0.374000	0.22700	AAA		0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87965339	87965339	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87965339C>A	ENST00000369577.3	+	8	2035	c.1992C>A	c.(1990-1992)tcC>tcA	p.S664S	ZNF292_ENST00000339907.4_Silent_p.S659S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	664						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S664S(1)|p.S519S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGATAAATCCTATGAGCCAG	0.323																																					p.S664S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1992A	6						.						44.0	40.0	41.0					6																	87965339		1841	4092	5933	88022058	SO:0001819	synonymous_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1992C>A	6.37:g.87965339C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88022058	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87965683	87965683	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87965683C>T	ENST00000369577.3	+	8	2379	c.2336C>T	c.(2335-2337)gCa>gTa	p.A779V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A774V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	779						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A779V(1)|p.A634V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCTTTAGAGCAAAATGTATG	0.343																																					p.A779V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2336T	6						.						41.0	39.0	39.0					6																	87965683		1825	4081	5906	88022402	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2336C>T	6.37:g.87965683C>T	ENSP00000358590:p.Ala779Val	Somatic		Capture	Illumina HiSeq	Phase_I	88022402	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752271	0.69533	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35605	1.3;1.3	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.45051	1.395	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.39542	-0.9609	10	0.56958	D	0.05	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	779	O60281	ZN292_HUMAN	V	779;774	ENSP00000358590:A779V;ENSP00000342847:A774V	ENSP00000342847:A774V	A	+	2	0	ZNF292	88022402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	GCA		0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87967924	87967924	+	Missense_Mutation	SNP	C	C	T	rs200259538		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87967924C>T	ENST00000369577.3	+	8	4620	c.4577C>T	c.(4576-4578)aCg>aTg	p.T1526M	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1521M	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1526						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T1526M(1)|p.T1381M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTAAATGCAACGGTGATGCCA	0.468																																					p.T1526M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4577T	6						.	C	MET/THR	1,4057		0,1,2028	51.0	50.0	51.0		4577	3.9	0.4	6		51	4,8352		0,4,4174	yes	missense	ZNF292	NM_015021.1	81	0,5,6202	TT,TC,CC		0.0479,0.0246,0.0403	possibly-damaging	1526/2724	87967924	5,12409	2029	4178	6207	88024643	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4577C>T	6.37:g.87967924C>T	ENSP00000358590:p.Thr1526Met	Somatic		Capture	Illumina HiSeq	Phase_I	88024643	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790120	0.16258	2.46E-4	4.79E-4	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07567	3.18;3.19	5.87	3.91	0.45181	.	1.092660	0.06885	N	0.803293	T	0.01765	0.0056	N	0.08118	0	0.29670	N	0.842532	P	0.39131	0.661	B	0.35859	0.212	T	0.44406	-0.9330	10	0.62326	D	0.03	.	9.4189	0.38539	0.1382:0.7847:0.0:0.0772	.	1526	O60281	ZN292_HUMAN	M	1526;1521	ENSP00000358590:T1526M;ENSP00000342847:T1521M	ENSP00000342847:T1521M	T	+	2	0	ZNF292	88024643	0.966000	0.33281	0.415000	0.26534	0.652000	0.38707	1.827000	0.39102	0.678000	0.31325	0.655000	0.94253	ACG		0.468	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87968763	87968763	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87968763T>G	ENST00000369577.3	+	8	5459	c.5416T>G	c.(5416-5418)Tta>Gta	p.L1806V	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1801V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1806						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L1806V(1)|p.L1661V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATAACAAATTACCCGATTC	0.368																																					p.L1806V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5416G	6						.						36.0	36.0	36.0					6																	87968763		1848	4093	5941	88025482	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5416T>G	6.37:g.87968763T>G	ENSP00000358590:p.Leu1806Val	Somatic		Capture	Illumina HiSeq	Phase_I	88025482	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	0.185	-1.058344	0.01950	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08282	3.11;3.13	5.64	1.57	0.23409	.	0.417622	0.20446	N	0.092184	T	0.01454	0.0047	N	0.24115	0.695	0.28035	N	0.933967	B	0.22346	0.068	B	0.18561	0.022	T	0.47959	-0.9076	10	0.25106	T	0.35	.	6.4718	0.22013	0.1075:0.1926:0.0:0.6999	.	1806	O60281	ZN292_HUMAN	V	1806;1801	ENSP00000358590:L1806V;ENSP00000342847:L1801V	ENSP00000342847:L1801V	L	+	1	2	ZNF292	88025482	0.774000	0.28592	0.992000	0.48379	0.173000	0.22820	-0.045000	0.12003	0.470000	0.27294	-0.263000	0.10527	TTA		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:87969690C>T	ENST00000369577.3	+	8	6386	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2115						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R2115*(1)|p.R1970*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418																																					p.R2115X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C6343T	6						.						87.0	89.0	89.0					6																	87969690		1907	4104	6011	88026409	SO:0001587	stop_gained	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6343C>T	6.37:g.87969690C>T	ENSP00000358590:p.Arg2115*	Somatic		Capture	Illumina HiSeq	Phase_I	88026409	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	45	11.675554	0.99590	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.77	3.79	0.43588	.	0.173238	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8656	0.46853	0.1948:0.7315:0.0:0.0736	.	.	.	.	X	2115;2110	.	ENSP00000342847:R2110X	R	+	1	2	ZNF292	88026409	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.407000	0.44565	1.422000	0.47177	0.655000	0.94253	CGA		0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
C6orf165	154313	broad.mit.edu	37	6	88119651	88119651	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:88119651C>A	ENST00000507897.1	+	2	177	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L32M			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	32								p.L32M(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTCTGAAACTCTGATTGCTTT	0.368																																					p.L32M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C94A	6						.						139.0	143.0	142.0					6																	88119651		2203	4300	6503	88176370	SO:0001583	missense	154313	exon2			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.94C>A	6.37:g.88119651C>A	ENSP00000426769:p.Leu32Met	Somatic		Capture	Illumina HiSeq	Phase_I	88176370	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029270	0.54790	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.48201	0.87;0.82	5.39	0.726	0.18248	.	0.148479	0.43747	D	0.000522	T	0.50582	0.1624	M	0.84433	2.695	0.33431	D	0.581106	D;D	0.76494	0.999;0.998	D;D	0.64595	0.927;0.927	T	0.51795	-0.8660	10	0.72032	D	0.01	.	5.0809	0.14656	0.0:0.3305:0.2777:0.3918	.	32;32	Q8IYR0;E1P509	CF165_HUMAN;.	M	32	ENSP00000358575:L32M;ENSP00000422494:L32M	ENSP00000358575:L32M	L	+	1	2	C6orf165	88176370	0.011000	0.17503	0.995000	0.50966	0.982000	0.71751	0.120000	0.15647	0.120000	0.18254	0.655000	0.94253	CTG		0.368	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
C6orf165	154313	broad.mit.edu	37	6	88173773	88173773	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:88173773A>C	ENST00000507897.1	+	13	1757	c.1674A>C	c.(1672-1674)caA>caC	p.Q558H	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q558H|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	558								p.Q558H(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCAGTACAAACTGATCTTA	0.398																																					p.Q558H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1674C	6						.						47.0	48.0	47.0					6																	88173773		2203	4300	6503	88230492	SO:0001583	missense	154313	exon13			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1674A>C	6.37:g.88173773A>C	ENSP00000426769:p.Gln558His	Somatic		Capture	Illumina HiSeq	Phase_I	88230492	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320093	0.41096	.	.	ENSG00000213204	ENST00000369562	D	0.81821	-1.54	5.68	-0.836	0.10770	.	0.000000	0.85682	D	0.000000	D	0.87107	0.6095	M	0.91196	3.185	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87699	0.2559	10	0.87932	D	0	.	10.7519	0.46213	0.4028:0.0:0.5972:0.0	.	558	Q8IYR0	CF165_HUMAN	H	558	ENSP00000358575:Q558H	ENSP00000358575:Q558H	Q	+	3	2	C6orf165	88230492	1.000000	0.71417	0.922000	0.36590	0.036000	0.12997	2.746000	0.47467	-0.127000	0.11661	-0.371000	0.07208	CAA		0.398	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
ORC3	23595	broad.mit.edu	37	6	88326097	88326097	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:88326097C>A	ENST00000392844.3	+	9	987	c.939C>A	c.(937-939)atC>atA	p.I313I	ORC3_ENST00000546266.1_Silent_p.I170I|ORC3_ENST00000257789.4_Silent_p.I313I|ORC3_ENST00000417380.2_Silent_p.I260I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	313					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.I313I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TGACCAACATCTTTTTGTATC	0.328																																					p.I170I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C510A	6						.						64.0	66.0	65.0					6																	88326097		2202	4293	6495	88382816	SO:0001819	synonymous_variant	23595	exon8			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.939C>A	6.37:g.88326097C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88382816	NM_001197259	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	CCDS43486.1																																																																																				0.328	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
AKIRIN2	55122	broad.mit.edu	37	6	88387558	88387558	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:88387558T>G	ENST00000257787.5	-	3	1031	c.507A>C	c.(505-507)gaA>gaC	p.E169D		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	169					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)	p.E169D(1)		large_intestine(4)	4						TGTTCAATATTTCTTCATATT	0.363																																					p.E169D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A507C	6						.						166.0	167.0	167.0					6																	88387558		2203	4300	6503	88444277	SO:0001583	missense	55122	exon3			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.507A>C	6.37:g.88387558T>G	ENSP00000257787:p.Glu169Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88444277	NM_018064	Q9BQB1	Missense_Mutation	SNP	ENST00000257787.5	37	CCDS5013.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355843	0.61293	.	.	ENSG00000135334	ENST00000257787	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.52266	1.64	0.54753	D	0.999987	B	0.19583	0.037	B	0.19148	0.024	T	0.39272	-0.9622	9	0.19147	T	0.46	-15.7757	16.5764	0.84681	0.0:0.0:0.0:1.0	.	169	Q53H80	AKIR2_HUMAN	D	169	.	ENSP00000257787:E169D	E	-	3	2	AKIRIN2	88444277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.542000	0.60677	2.371000	0.80710	0.533000	0.62120	GAA		0.363	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	
CNR1	1268	broad.mit.edu	37	6	88854740	88854740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:88854740G>T	ENST00000537554.1	-	2	3816	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	CNR1_ENST00000468898.1_Missense_Mutation_p.S52Y|CNR1_ENST00000369499.2_Missense_Mutation_p.S85Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S85Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S85Y|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.S85Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S85Y|CNR1_ENST00000362094.5_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.S85Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGACGAGAGAGACTTGTTGTA	0.512																																					p.S85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254A	6						.						78.0	79.0	78.0					6																	88854740		2203	4300	6503	88911459	SO:0001583	missense	1268	exon2			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.254C>A	6.37:g.88854740G>T	ENSP00000441046:p.Ser85Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	88911459	NM_001160259	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019776	0.35606	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600	T;T;T;T;T;T;T	0.76448	-0.96;-0.96;-0.96;-0.96;-0.96;-1.02;-0.96	5.77	5.77	0.91146	.	2.186190	0.01582	N	0.021148	T	0.72550	0.3474	L	0.50333	1.59	0.80722	D	1	B;P	0.43169	0.228;0.8	B;B	0.37833	0.082;0.259	T	0.68164	-0.5481	10	0.87932	D	0	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	52;85	P21554-3;P21554	.;CNR1_HUMAN	Y	85;85;85;85;85;52;85	ENSP00000358513:S85Y;ENSP00000442689:S85Y;ENSP00000441046:S85Y;ENSP00000358511:S85Y;ENSP00000446819:S85Y;ENSP00000420188:S52Y;ENSP00000412192:S85Y	ENSP00000358511:S85Y	S	-	2	0	CNR1	88911459	1.000000	0.71417	0.995000	0.50966	0.366000	0.29705	4.328000	0.59253	2.732000	0.93576	0.563000	0.77884	TCT		0.512	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
RNGTT	8732	broad.mit.edu	37	6	89600327	89600327	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:89600327A>G	ENST00000369485.4	-	8	981				RNGTT_ENST00000369475.3_Intron|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTAAAGAAGAACACAGTATTA	0.383																																					.												.	.	0			.	6						.						77.0	71.0	73.0					6																	89600327		2203	4300	6503	89657046	SO:0001627	intron_variant	8732	.			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.795-12T>C	6.37:g.89600327A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89657046	.	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Intron	SNP	ENST00000369485.4	37	CCDS5017.1																																																																																				0.383	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
SRSF12	135295	broad.mit.edu	37	6	89814892	89814892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:89814892C>T	ENST00000452027.2	-	4	555	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	121	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)	p.R122Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACTTCTACTTCGAGTTCTTCT	0.423																																					p.R121Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	6						.						81.0	69.0	73.0					6																	89814892		1829	4085	5914	89871611	SO:0001583	missense	135295	exon4			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.362G>A	6.37:g.89814892C>T	ENSP00000414302:p.Arg121Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89871611	NM_080743	B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132293	0.77662	.	.	ENSG00000154548	ENST00000452027	T	0.11169	2.8	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000095	T	0.20618	0.0496	L	0.58583	1.82	0.44789	D	0.997791	D	0.69078	0.997	D	0.70227	0.968	T	0.00385	-1.1773	10	0.36615	T	0.2	.	17.6188	0.88075	0.0:1.0:0.0:0.0	.	121	Q8WXF0	SRS12_HUMAN	Q	121	ENSP00000414302:R121Q	ENSP00000414302:R121Q	R	-	2	0	SRSF12	89871611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.538000	0.73852	2.695000	0.91970	0.650000	0.86243	CGA		0.423	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743	
GABRR1	2569	broad.mit.edu	37	6	89899928	89899928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:89899928C>T	ENST00000454853.2	-	6	721	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	GABRR1_ENST00000435811.1_Missense_Mutation_p.R187Q|GABRR1_ENST00000369451.3_Missense_Mutation_p.R117Q	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	204					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R198Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAAGGGAAATCGGCTGAAGTC	0.443																																					p.R204Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	6						.						165.0	143.0	151.0					6																	89899928		2203	4300	6503	89956647	SO:0001583	missense	2569	exon6				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.611G>A	6.37:g.89899928C>T	ENSP00000412673:p.Arg204Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89956647	NM_002042	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011081	0.93346	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78246	-1.16;-1.16;-1.16	5.7	5.7	0.88788	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.060670	0.64402	D	0.000004	D	0.84624	0.5513	M	0.76938	2.355	0.48975	D	0.999737	D;D	0.63046	0.99;0.992	P;P	0.58780	0.674;0.845	D	0.83954	0.0318	9	.	.	.	-12.1292	19.8289	0.96627	0.0:1.0:0.0:0.0	.	187;204	P24046-2;P24046	.;GBRR1_HUMAN	Q	204;187;117;117	ENSP00000412673:R204Q;ENSP00000394687:R187Q;ENSP00000358463:R117Q	.	R	-	2	0	GABRR1	89956647	1.000000	0.71417	0.892000	0.35008	0.982000	0.71751	4.903000	0.63272	2.692000	0.91855	0.467000	0.42956	CGA		0.443	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		
GABRR2	2570	broad.mit.edu	37	6	89977401	89977401	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:89977401T>C	ENST00000402938.3	-	6	866	c.733A>G	c.(733-735)Act>Gct	p.T245A	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.T270A	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	245					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T245A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TAGCTACCAGTGCTGCTGTAG	0.408																																					p.T270A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A808G	6						.						98.0	100.0	100.0					6																	89977401		2203	4300	6503	90034120	SO:0001583	missense	2570	exon6				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.733A>G	6.37:g.89977401T>C	ENSP00000386029:p.Thr245Ala	Somatic		Capture	Illumina HiSeq	Phase_I	90034120	NM_002043	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174677	0.78452	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.70595	2.14	0.80722	D	1	D	0.65815	0.995	D	0.66196	0.942	T	0.72934	-0.4141	8	.	.	.	.	16.0519	0.80769	0.0:0.0:0.0:1.0	.	270	P28476	GBRR2_HUMAN	A	270	.	.	T	-	1	0	GABRR2	90034120	1.000000	0.71417	0.997000	0.53966	0.724000	0.41520	7.698000	0.84413	2.196000	0.70406	0.533000	0.62120	ACT		0.408	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3		
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428																																					p.C101C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C303T	6						.						158.0	174.0	169.0					6																	90097155		2203	4300	6503	90153874	SO:0001819	synonymous_variant	58528	exon2			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.303C>T	6.37:g.90097155G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90153874	NM_021244		Silent	SNP	ENST00000369415.4	37	CCDS5022.1																																																																																				0.428	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244	
MDN1	23195	broad.mit.edu	37	6	90387422	90387422	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90387422A>C	ENST00000369393.3	-	76	12528				RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Intron			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.?(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACCTAGGAAATAAACAGCA	0.453																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						112.0	106.0	108.0					6																	90387422		2203	4300	6503	90444143	SO:0001627	intron_variant	23195	.			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12413-7T>G	6.37:g.90387422A>C		Somatic		Capture	Illumina HiSeq	Phase_I	90444143	.	O15019|Q5T794	Intron	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90435078	90435078	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90435078T>G	ENST00000369393.3	-	38	5625	c.5510A>C	c.(5509-5511)aAt>aCt	p.N1837T	MDN1_ENST00000428876.1_Missense_Mutation_p.N1837T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1837					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.N1837T(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAACAAGCATTGAGTCCTTC	0.383																																					p.N1837T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5510C	6						.						69.0	66.0	67.0					6																	90435078		2203	4300	6503	90491799	SO:0001583	missense	23195	exon38			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5510A>C	6.37:g.90435078T>G	ENSP00000358400:p.Asn1837Thr	Somatic		Capture	Illumina HiSeq	Phase_I	90491799	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270483	0.59540	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.42131	0.98;0.98	5.98	4.81	0.61882	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.046331	0.85682	D	0.000000	T	0.64649	0.2617	M	0.93420	3.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74699	-0.3577	10	0.72032	D	0.01	.	11.935	0.52868	0.0:0.0677:0.0:0.9323	.	1837	Q9NU22	MDN1_HUMAN	T	1837	ENSP00000358400:N1837T;ENSP00000413970:N1837T	ENSP00000358400:N1837T	N	-	2	0	MDN1	90491799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.082000	0.41137	0.482000	0.46254	AAT		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90468570	90468570	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90468570G>T	ENST00000369393.3	-	18	2685	c.2570C>A	c.(2569-2571)tCt>tAt	p.S857Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S857Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	857					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S857F(1)|p.S857Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGGATCCAGAAGATCCTTC	0.473																																					p.S857Y												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.C2570A	6						.						111.0	96.0	101.0					6																	90468570		2203	4300	6503	90525291	SO:0001583	missense	23195	exon18			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2570C>A	6.37:g.90468570G>T	ENSP00000358400:p.Ser857Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	90525291	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212096	0.39102	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.54479	0.57;0.57;0.57	5.78	3.99	0.46301	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.259419	0.40144	N	0.001178	T	0.33556	0.0867	L	0.58969	1.84	0.45087	D	0.998104	B;B	0.18013	0.025;0.002	B;B	0.25405	0.06;0.049	T	0.28554	-1.0040	10	0.56958	D	0.05	.	10.7102	0.45980	0.0679:0.0:0.7994:0.1327	.	784;857	Q5T795;Q9NU22	.;MDN1_HUMAN	Y	857;857;784	ENSP00000358400:S857Y;ENSP00000413970:S857Y;ENSP00000409664:S784Y	ENSP00000358400:S857Y	S	-	2	0	MDN1	90525291	1.000000	0.71417	0.891000	0.34965	0.986000	0.74619	4.595000	0.61048	0.783000	0.33636	0.563000	0.77884	TCT		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90529269	90529269	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90529269T>C	ENST00000369393.3	-	1	173	c.58A>G	c.(58-60)Aac>Gac	p.N20D	MDN1_ENST00000428876.1_Missense_Mutation_p.N20D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	20					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.N20D(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTTCTCGTTCTTGGCTGCG	0.632																																					p.N20D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A58G	6						.						139.0	137.0	138.0					6																	90529269		2203	4300	6503	90585990	SO:0001583	missense	23195	exon1			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.58A>G	6.37:g.90529269T>C	ENSP00000358400:p.Asn20Asp	Somatic		Capture	Illumina HiSeq	Phase_I	90585990	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914714	0.52546	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17528	4.03;4.03;2.27	4.74	4.74	0.60224	.	0.321293	0.34291	N	0.004084	T	0.05960	0.0155	L	0.36672	1.1	0.33784	D	0.624675	B;B	0.27450	0.062;0.179	B;B	0.21708	0.036;0.033	T	0.18777	-1.0326	10	0.31617	T	0.26	.	11.9996	0.53222	0.0:0.0:0.0:1.0	.	20;20	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	D	20	ENSP00000358400:N20D;ENSP00000413970:N20D;ENSP00000409664:N20D	ENSP00000358400:N20D	N	-	1	0	MDN1	90585990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.412000	0.52679	2.116000	0.64780	0.459000	0.35465	AAC		0.632	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90573394	90573394	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90573394G>A	ENST00000551025.1	+	0	3403									caspase 8 associated protein 2									p.E656K(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAAGGAAGACGAAAATAGTTT	0.428																																					p.E656K	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966A	6						.						52.0	49.0	50.0					6																	90573394		1914	4119	6033	90630115			9994	exon7			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573394G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90630115	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.428	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
CASP8AP2	9994	broad.mit.edu	37	6	90581066	90581066	+	RNA	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90581066T>G	ENST00000551025.1	+	0	7288									caspase 8 associated protein 2									p.F1951V(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATTTAAAACATTTGCATATTT	0.333																																					p.F1951V	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5851G	6						.						89.0	86.0	87.0					6																	90581066		1806	4070	5876	90637787			9994	exon9			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90581066T>G		Somatic		Capture	Illumina HiSeq	Phase_I	90637787	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.333	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
GJA10	84694	broad.mit.edu	37	6	90605791	90605791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90605791C>T	ENST00000369352.1	+	1	1604	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S535L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATTATTCATTCGATACATTCA	0.333																																					p.S535L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1604T	6						.						29.0	34.0	32.0					6																	90605791		2180	4294	6474	90662512	SO:0001583	missense	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1604C>T	6.37:g.90605791C>T	ENSP00000358358:p.Ser535Leu	Somatic		Capture	Illumina HiSeq	Phase_I	90662512	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578033	0.28180	.	.	ENSG00000135355	ENST00000369352	D	0.97888	-4.59	2.99	-2.47	0.06442	.	.	.	.	.	D	0.86997	0.6068	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.79732	-0.1680	9	0.87932	D	0	.	4.0221	0.09670	0.0:0.2897:0.349:0.3614	.	535	Q969M2	CXA10_HUMAN	L	535	ENSP00000358358:S535L	ENSP00000358358:S535L	S	+	2	0	GJA10	90662512	0.052000	0.20516	0.001000	0.08648	0.358000	0.29455	-0.661000	0.05311	-0.630000	0.05567	0.462000	0.41574	TCG		0.333	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
BACH2	60468	broad.mit.edu	37	6	90660129	90660129	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:90660129G>T	ENST00000257749.4	-	7	2403	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	BACH2_ENST00000537989.1_Missense_Mutation_p.L566M|BACH2_ENST00000343122.3_Missense_Mutation_p.L566M|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	566						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.L566M(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCTCCCATCAGGCCTGGTTCC	0.562																																					p.L566M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1696A	6						.						101.0	93.0	96.0					6																	90660129		2203	4300	6503	90716850	SO:0001583	missense	60468	exon7			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1696C>A	6.37:g.90660129G>T	ENSP00000257749:p.Leu566Met	Somatic		Capture	Illumina HiSeq	Phase_I	90716850	NM_021813	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	8.319	0.823848	0.16678	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.42900	0.96;0.96;0.96	5.13	5.13	0.70059	.	0.334419	0.28338	N	0.015707	T	0.10937	0.0267	L	0.27053	0.805	0.24162	N	0.995655	B	0.23316	0.083	B	0.15870	0.014	T	0.03795	-1.1003	10	0.30854	T	0.27	-11.8096	4.5337	0.12017	0.0839:0.1639:0.6036:0.1486	.	566	Q9BYV9	BACH2_HUMAN	M	566	ENSP00000257749:L566M;ENSP00000437473:L566M;ENSP00000345642:L566M	ENSP00000257749:L566M	L	-	1	2	BACH2	90716850	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.083000	0.41615	2.399000	0.81585	0.455000	0.32223	CTG		0.562	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
EPHA7	2045	broad.mit.edu	37	6	93979247	93979247	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:93979247A>C	ENST00000369303.4	-	7	1765	c.1581T>G	c.(1579-1581)agT>agG	p.S527R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	527	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.S527R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAAGTCTGGGACTGTAATTTC	0.393																																					p.S527R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1581G	6						.						137.0	130.0	133.0					6																	93979247		2203	4299	6502	94035968	SO:0001583	missense	2045	exon7			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1581T>G	6.37:g.93979247A>C	ENSP00000358309:p.Ser527Arg	Somatic		Capture	Illumina HiSeq	Phase_I	94035968	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158129	0.57368	.	.	ENSG00000135333	ENST00000369303	T	0.70749	-0.51	5.99	-5.06	0.02946	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.089335	0.85682	D	0.000000	T	0.74619	0.3740	H	0.98936	4.375	0.80722	D	1	B;P;B	0.36282	0.255;0.546;0.408	B;B;B	0.34931	0.192;0.146;0.173	T	0.77560	-0.2542	10	0.87932	D	0	.	20.363	0.98871	0.2279:0.0:0.7721:0.0	.	527;527;527	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	R	527	ENSP00000358309:S527R	ENSP00000358309:S527R	S	-	3	2	EPHA7	94035968	0.059000	0.20769	0.898000	0.35279	0.970000	0.65996	-0.494000	0.06451	-1.240000	0.02529	-0.274000	0.10170	AGT		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
KLHL32	114792	broad.mit.edu	37	6	97414940	97414940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:97414940C>T	ENST00000369261.4	+	2	367	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	2								p.P2S(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTGGAAAATGCCGTCTGAACG	0.478																																					p.P2S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4T	6						.						101.0	74.0	83.0					6																	97414940		2203	4300	6503	97521661	SO:0001583	missense	114792	exon2			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.4C>T	6.37:g.97414940C>T	ENSP00000358265:p.Pro2Ser	Somatic		Capture	Illumina HiSeq	Phase_I	97521661	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614806	0.46631	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.75938	-0.72;-0.95;-0.98;-0.87	4.96	4.96	0.65561	.	0.558433	0.18223	N	0.147804	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;P;P	0.58268	0.982;0.759;0.759;0.759	D;B;B;B	0.63033	0.91;0.245;0.328;0.328	T	0.72795	-0.4185	10	0.41790	T	0.15	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	2;2;2;2	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	S	2	ENSP00000358265:P2S;ENSP00000440382:P2S;ENSP00000441527:P2S;ENSP00000358258:P2S	ENSP00000358258:P2S	P	+	1	0	KLHL32	97521661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.640000	0.61368	2.583000	0.87209	0.655000	0.94253	CCG		0.478	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
KLHL32	114792	broad.mit.edu	37	6	97561879	97561879	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:97561879A>T	ENST00000369261.4	+	7	1211	c.848A>T	c.(847-849)aAa>aTa	p.K283I	KLHL32_ENST00000539200.1_Missense_Mutation_p.K214I|KLHL32_ENST00000536676.1_Missense_Mutation_p.K247I|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	283								p.K283I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCAGGACCAAACCACGATTC	0.517																																					p.K283I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A848T	6						.						93.0	81.0	85.0					6																	97561879		2203	4300	6503	97668600	SO:0001583	missense	114792	exon7			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.848A>T	6.37:g.97561879A>T	ENSP00000358265:p.Lys283Ile	Somatic		Capture	Illumina HiSeq	Phase_I	97668600	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622920	0.46840	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.74842	-0.82;-0.87;-0.88	5.5	5.5	0.81552	.	0.181403	0.64402	D	0.000016	T	0.55940	0.1952	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.29805	0.034;0.257;0.004;0.112	B;B;B;B	0.23852	0.016;0.049;0.005;0.046	T	0.63976	-0.6515	10	0.56958	D	0.05	.	10.8892	0.46986	0.9275:0.0:0.0725:0.0	.	214;247;283;283	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	I	283;247;214	ENSP00000358265:K283I;ENSP00000440382:K247I;ENSP00000441527:K214I	ENSP00000358265:K283I	K	+	2	0	KLHL32	97668600	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.733000	0.55029	2.302000	0.77476	0.533000	0.62120	AAA		0.517	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
MMS22L	253714	broad.mit.edu	37	6	97676962	97676962	+	Missense_Mutation	SNP	T	T	G	rs147783804		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:97676962T>G	ENST00000275053.4	-	14	2112	c.1847A>C	c.(1846-1848)cAg>cCg	p.Q616P	MMS22L_ENST00000369251.2_Missense_Mutation_p.Q576P	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	616					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.Q616P(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTCTGTCTCTGTACCATTTC	0.403																																					p.Q616P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1847C	6						.						152.0	139.0	143.0					6																	97676962		2203	4300	6503	97783683	SO:0001583	missense	253714	exon14				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1847A>C	6.37:g.97676962T>G	ENSP00000275053:p.Gln616Pro	Somatic		Capture	Illumina HiSeq	Phase_I	97783683	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201584	0.38905	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34667	1.35;1.35	5.52	5.52	0.82312	.	0.069156	0.64402	D	0.000007	T	0.50463	0.1617	M	0.67953	2.075	0.51767	D	0.999939	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.969	T	0.53222	-0.8469	10	0.52906	T	0.07	-8.1448	15.6542	0.77121	0.0:0.0:0.0:1.0	.	576;616	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	P	616;576	ENSP00000275053:Q616P;ENSP00000358254:Q576P	ENSP00000275053:Q616P	Q	-	2	0	MMS22L	97783683	1.000000	0.71417	0.989000	0.46669	0.087000	0.18053	5.214000	0.65236	2.109000	0.64355	0.460000	0.39030	CAG		0.403	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
PNISR	25957	broad.mit.edu	37	6	99858756	99858756	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:99858756G>T	ENST00000369239.5	-	5	566	c.362C>A	c.(361-363)cCt>cAt	p.P121H	PNISR_ENST00000438806.1_Missense_Mutation_p.P121H|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	121	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P121H(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTCAGAAGGAGGAACAATGTC	0.498																																					p.P121H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362A	6						.						159.0	145.0	150.0					6																	99858756		2203	4300	6503	99965477	SO:0001583	missense	25957	exon5			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.362C>A	6.37:g.99858756G>T	ENSP00000358242:p.Pro121His	Somatic		Capture	Illumina HiSeq	Phase_I	99965477	NM_032870	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255819	0.59321	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	.	0.142200	0.64402	D	0.000005	T	0.41903	0.1179	N	0.19112	0.55	0.44899	D	0.997915	D	0.58268	0.982	P	0.60012	0.867	T	0.41016	-0.9532	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	121	Q8TF01	PNISR_HUMAN	H	121	ENSP00000358242:P121H;ENSP00000387997:P121H	ENSP00000358242:P121H	P	-	2	0	PNISR	99965477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.664000	0.61540	2.894000	0.99253	0.591000	0.81541	CCT		0.498	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870	
LACE1	246269	broad.mit.edu	37	6	108676969	108676969	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:108676969G>T	ENST00000368977.4	+	4	703					NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1							mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGTAAGCAATGATCTGAAAGA	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						110.0	106.0	107.0					6																	108676969		2203	4299	6502	108783662	SO:0001627	intron_variant	246269	.			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.517+10G>T	6.37:g.108676969G>T		Somatic		Capture	Illumina HiSeq	Phase_I	108783662	.	Q8N6A3	Intron	SNP	ENST00000368977.4	37	CCDS5067.1																																																																																				0.333	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
WASF1	8936	broad.mit.edu	37	6	110428268	110428268	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:110428268C>A	ENST00000392589.1	-	7	1377				WASF1_ENST00000359451.2_Intron|WASF1_ENST00000392587.2_Intron|WASF1_ENST00000392586.1_Intron|WASF1_ENST00000392588.1_Intron	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1						actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ATTTTTTAATCTCTTGTAATA	0.289																																					.												.	.	0			.	6						.						94.0	91.0	92.0					6																	110428268		2203	4296	6499	110534961	SO:0001627	intron_variant	8936	.			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.540+11G>T	6.37:g.110428268C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110534961	.	E1P5F2|Q5SZK7	Intron	SNP	ENST00000392589.1	37	CCDS5080.1																																																																																				0.289	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931	
RPF2	84154	broad.mit.edu	37	6	111346594	111346594	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:111346594C>A	ENST00000441448.2	+	10	833					NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TATACATATTCTTTTATCGTA	0.343																																					.												.	.	0			.	6						.						36.0	39.0	38.0					6																	111346594		2203	4300	6503	111453287	SO:0001627	intron_variant	84154	.			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.742-12C>A	6.37:g.111346594C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111453287	.	Q5VXN1|Q8N4A1	Intron	SNP	ENST00000441448.2	37	CCDS5088.1																																																																																				0.343	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
WISP3	8838	broad.mit.edu	37	6	112388240	112388240	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112388240C>A	ENST00000368666.2	+	4	875				WISP3_ENST00000368663.3_Intron|WISP3_ENST00000361714.1_Intron|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000604763.1_Intron|WISP3_ENST00000409166.1_Intron	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3						cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCCAGGTATCTTCACGTTTC	0.408																																					.												.	.	0			.	6						.						78.0	75.0	76.0					6																	112388240		876	1991	2867	112494933	SO:0001627	intron_variant	8838	.			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.590-1168C>A	6.37:g.112388240C>A		Somatic		Capture	Illumina HiSeq	Phase_I	112494933	.	Q3KR29|Q5H8W4|Q6UXH6	Intron	SNP	ENST00000368666.2	37	CCDS5098.1																																																																																				0.408	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
LAMA4	3910	broad.mit.edu	37	6	112443409	112443409	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112443409A>T	ENST00000230538.7	-	32	4685				LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCTCCCTATAAAAGTAAACC	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						59.0	59.0	59.0					6																	112443409		2203	4300	6503	112550102	SO:0001627	intron_variant	3910	.				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4288-5T>A	6.37:g.112443409A>T		Somatic		Capture	Illumina HiSeq	Phase_I	112550102	.	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Intron	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112480094	112480094	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112480094A>C	ENST00000230538.7	-	14	2066				RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAAAGAAAAAAATTTTAATAA	0.299																																					.												.	.	0			.	6						.						46.0	46.0	46.0					6																	112480094		2202	4300	6502	112586787	SO:0001627	intron_variant	3910	.				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1669-12T>G	6.37:g.112480094A>C		Somatic		Capture	Illumina HiSeq	Phase_I	112586787	.	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Intron	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.299	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112535247	112535247	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:112535247A>T	ENST00000230538.7	-	3	695				LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000431543.2_Missense_Mutation_p.F108I|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAAGCTGAAAAACCTGGGTCT	0.473																																					.												.	.	0			.	6						.						151.0	137.0	142.0					6																	112535247		876	1991	2867	112641940	SO:0001627	intron_variant	3910	.				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.297+2321T>A	6.37:g.112535247A>T		Somatic		Capture	Illumina HiSeq	Phase_I	112641940	.	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Intron	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	a	10.98	1.504263	0.26949	.	.	ENSG00000112769	ENST00000431543	T	0.47177	0.85	1.99	-3.98	0.04082	.	.	.	.	.	T	0.12390	0.0301	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.10450	0.005	T	0.29150	-1.0021	8	0.66056	D	0.02	.	3.7479	0.08555	0.3758:0.4625:0.1617:0.0	.	108	Q6LET9	.	I	108	ENSP00000412136:F108I	ENSP00000412136:F108I	F	-	1	0	LAMA4	112641940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.059000	0.14322	-1.136000	0.02892	-0.360000	0.07572	TTT		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
NKAIN2	154215	broad.mit.edu	37	6	124604293	124604293	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:124604293G>T	ENST00000368417.1	+	2	252				NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000476571.1_Intron|NKAIN2_ENST00000368416.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACAGGAGTAAGTACATTTTCT	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						96.0	94.0	94.0					6																	124604293		2203	4300	6503	124645992	SO:0001627	intron_variant	154215	.			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.192+5G>T	6.37:g.124604293G>T		Somatic		Capture	Illumina HiSeq	Phase_I	124645992	.	Q8IYR4|Q8TF67	Intron	SNP	ENST00000368417.1	37	CCDS34526.1																																																																																				0.333	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214	
RNF217-AS1	7955	broad.mit.edu	37	6	125231575	125231575	+	RNA	SNP	C	C	T	rs34725523		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:125231575C>T	ENST00000439075.1	-	0	3170					NR_026876.1																						AAAAAAAGTACTTTTTATGTA	0.274																																					.												.	.	0			.	6						.						14.0	15.0	15.0					6																	125231575		873	1988	2861	125273274			7955	.																															6.37:g.125231575C>T		Somatic		Capture	Illumina HiSeq	Phase_I	125273274	.		RNA	SNP	ENST00000439075.1	37																																																																																					0.274	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1		
RNF217-AS1	7955	broad.mit.edu	37	6	125232385	125232385	+	RNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:125232385G>A	ENST00000439075.1	-	0	2360					NR_026876.1																						TGAGAGATACGTGCTTTTGCA	0.458																																					.												.	.	0			.	6						.						7.0	7.0	7.0					6																	125232385		873	1977	2850	125274084			7955	.																															6.37:g.125232385G>A		Somatic		Capture	Illumina HiSeq	Phase_I	125274084	.		RNA	SNP	ENST00000439075.1	37																																																																																					0.458	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1		
PTPRK	5796	broad.mit.edu	37	6	128559170	128559170	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:128559170A>G	ENST00000368215.3	-	5	693				PTPRK_ENST00000524481.1_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000368207.3_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGAAGACTGATGTAAGTGAA	0.249																																					.												.	.	0			.	6						.						4.0	3.0	3.0					6																	128559170		800	1785	2585	128600863	SO:0001627	intron_variant	5796	.			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.693+2009T>C	6.37:g.128559170A>G		Somatic		Capture	Illumina HiSeq	Phase_I	128600863	.	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Intron	SNP	ENST00000368215.3	37																																																																																					0.249	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
STX7	8417	broad.mit.edu	37	6	132791706	132791706	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:132791706T>G	ENST00000367941.2	-	6	554				STX7_ENST00000367937.4_Intron|STX7_ENST00000448348.3_Intron	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7						intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.?(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGTTTTGTATTTCTTACCTTT	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						86.0	85.0	85.0					6																	132791706		2203	4300	6503	132833399	SO:0001627	intron_variant	8417	.			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.440+6A>C	6.37:g.132791706T>G		Somatic		Capture	Illumina HiSeq	Phase_I	132833399	.	E1P579|Q5SZW2|Q96ES9	Intron	SNP	ENST00000367941.2	37	CCDS5153.1																																																																																				0.318	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		
VNN3	55350	broad.mit.edu	37	6	133044171	133044171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133044171C>A	ENST00000207771.3	-	8	1469	c.1397G>T	c.(1396-1398)aGg>aTg	p.R466M	VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	467					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.R466M(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACTTCGGCTCCTCAAGCGTCC	0.493																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						89.0	74.0	79.0					6																	133044171		876	1991	2867	133085864	SO:0001583	missense	55350	.			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1397G>T	6.37:g.133044171C>A	ENSP00000440594:p.Arg466Met	Somatic		Capture	Illumina HiSeq	Phase_I	133085864	.	B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	3'UTR	SNP	ENST00000207771.3	37		.	.	.	.	.	.	.	.	.	.	C	0.280	-0.986964	0.02180	.	.	ENSG00000093134	ENST00000207771	D	0.92545	-3.06	5.31	-2.71	0.05986	.	0.583336	0.15917	U	0.238283	T	0.72922	0.3521	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68390	-0.5421	7	0.24483	T	0.36	-2.9061	4.6498	0.12589	0.2348:0.3213:0.0:0.4439	.	.	.	.	M	466	ENSP00000440594:R466M	ENSP00000440594:R466M	R	-	2	0	VNN3	133085864	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.742000	0.04850	-0.511000	0.06514	-0.897000	0.02905	AGG		0.493	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290	
VNN2	8875	broad.mit.edu	37	6	133078804	133078804	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:133078804G>A	ENST00000326499.6	-	1	338				VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Intron|VNN2_ENST00000526192.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2						cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGAAATAAGAGAATACCTGCT	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						98.0	96.0	97.0					6																	133078804		2203	4300	6503	133120497	SO:0001627	intron_variant	8875	.			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.213+5C>T	6.37:g.133078804G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133120497	.	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Intron	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.423	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
KIAA1244	57221	broad.mit.edu	37	6	138619739	138619739	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:138619739G>T	ENST00000251691.4	+	22	3814					NM_020340.4	NP_065073.3			KIAA1244									p.?(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGTGAATTTTGCAGGCTGCTT	0.498																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						75.0	61.0	66.0					6																	138619739		2203	4300	6503	138661432	SO:0001627	intron_variant	57221	.			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3649-4G>T	6.37:g.138619739G>T		Somatic		Capture	Illumina HiSeq	Phase_I	138661432	.		Intron	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																				0.498	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
REPS1	85021	broad.mit.edu	37	6	139229965	139229965	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:139229965G>T	ENST00000450536.2	-	18	2642				REPS1_ENST00000258062.5_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Intron|REPS1_ENST00000367663.4_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1						receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTAAGACAAGAATTCCATTA	0.353																																					.												.	.	0			.	6						.						106.0	97.0	100.0					6																	139229965		2203	4300	6503	139271658	SO:0001627	intron_variant	85021	.				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2068-12C>A	6.37:g.139229965G>T		Somatic		Capture	Illumina HiSeq	Phase_I	139271658	.	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Intron	SNP	ENST00000450536.2	37																																																																																					0.353	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
SYNE1	23345	broad.mit.edu	37	6	152688344	152688344	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152688344G>T	ENST00000367255.5	-	62	10574				SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000265368.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGTAAAGATGCACACCT	0.463										HNSCC(10;0.0054)																											.												.	.	2	Unknown(2)	large_intestine(2)	.	6						.						142.0	138.0	139.0					6																	152688344		2203	4300	6503	152730037	SO:0001627	intron_variant	23345	.			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9972+8C>A	6.37:g.152688344G>T		Somatic		Capture	Illumina HiSeq	Phase_I	152730037	.	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Intron	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.927|4.927	0.172155|0.172155	0.09391|0.09391	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000469439|ENST00000454018	.|.	.|.	.|.	5.67|5.67	-11.3|-11.3	0.00108|0.00108	.|.	.|.	.|.	.|.	.|.	T|T	0.03695|0.03695	0.0105|0.0105	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.13548|0.13548	-1.0505|-1.0505	4|4	.|.	.|.	.|.	.|.	1.1048|1.1048	0.01691|0.01691	0.2374:0.2622:0.2913:0.2091|0.2374:0.2622:0.2913:0.2091	.|.	.|.	.|.	.|.	I|Y	140|444	.|.	.|.	L|S	-|-	1|2	0|0	SYNE1|SYNE1	152730037|152730037	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.054000|0.054000	0.15201|0.15201	-0.320000|-0.320000	0.08028|0.08028	-2.532000|-2.532000	0.00491|0.00491	-1.080000|-1.080000	0.02220|0.02220	CTT|TCT		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152782727	152782727	+	Intron	SNP	C	C	T	rs199933019		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:152782727C>T	ENST00000367255.5	-	21	2996				SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000495090.2_Intron|SYNE1_ENST00000265368.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATTATTTTCGCACCTTGGT	0.443										HNSCC(10;0.0054)			C|||	0	0.0	0.0	0.0	5008	,	,		17391	0.0		0.0	False		,,,				2504	0.0				.												.	.	5	Unknown(5)	lung(3)|large_intestine(2)	.	6						.						212.0	146.0	168.0					6																	152782727		2203	4300	6503	152824420	SO:0001627	intron_variant	23345	.			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2394+4G>A	6.37:g.152782727C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152824420	.	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Intron	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	broad.mit.edu	37	6	155561851	155561851	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:155561851A>C	ENST00000461783.3	+	18	4621				TIAM2_ENST00000367174.2_Intron|TIAM2_ENST00000529824.2_Intron|TIAM2_ENST00000456877.2_Intron|TIAM2_ENST00000318981.5_Intron|TIAM2_ENST00000275246.7_Intron|TIAM2_ENST00000360366.4_Intron|TIAM2_ENST00000528391.2_Intron|TIAM2_ENST00000456144.1_Intron			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGGTAAGGGAAGAGCTGGCA	0.577																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						42.0	41.0	41.0					6																	155561851		2203	4300	6503	155603543	SO:0001627	intron_variant	26230	.				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3348+8A>C	6.37:g.155561851A>C		Somatic		Capture	Illumina HiSeq	Phase_I	155603543	.	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Intron	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.577	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TCP1	6950	broad.mit.edu	37	6	160201468	160201468	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160201468C>T	ENST00000321394.7	-	9	1378				SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.?(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TAGAAAGTGGCTCTTACTTTT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						96.0	102.0	100.0					6																	160201468		2203	4300	6503	160121458	SO:0001627	intron_variant	6950	.			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1097+6G>A	6.37:g.160201468C>T		Somatic		Capture	Illumina HiSeq	Phase_I	160121458	.	E1P5B2|Q15556|Q5TCM3	Intron	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																				0.368	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
TCP1	6950	broad.mit.edu	37	6	160206729	160206729	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160206729C>A	ENST00000321394.7	-	5	658				SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000546023.1_5'Flank	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCACTAAAATCTATTATTAGG	0.328																																					.												.	.	0			.	6						.						201.0	211.0	208.0					6																	160206729		876	1991	2867	160126719	SO:0001627	intron_variant	6950	.			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.378-201G>T	6.37:g.160206729C>A		Somatic		Capture	Illumina HiSeq	Phase_I	160126719	.	E1P5B2|Q15556|Q5TCM3	RNA	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																				0.328	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
MRPL18	29074	broad.mit.edu	37	6	160211681	160211681	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:160211681C>A	ENST00000367034.4	+	1	174				TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000546023.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18						rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GGTAATTAGTCTTGCCCCCCT	0.547																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						104.0	93.0	97.0					6																	160211681		2203	4300	6503	160131671	SO:0001627	intron_variant	29074	.			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.52+10C>A	6.37:g.160211681C>A		Somatic		Capture	Illumina HiSeq	Phase_I	160131671	.	Q5TAP9|Q9NZW8	Intron	SNP	ENST00000367034.4	37	CCDS5270.1																																																																																				0.547	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
PLG	5340	broad.mit.edu	37	6	161123390	161123390	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:161123390G>T	ENST00000308192.9	+	1	112				RP1-81D8.3_ENST00000448126.1_lincRNA|PLG_ENST00000366924.2_Intron|PLG_ENST00000462918.1_Intron	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATCAGGTAAGACATAGtttt	0.343																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						17.0	17.0	17.0					6																	161123390		2027	3969	5996	161043380	SO:0001627	intron_variant	5340	.			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.49+5G>T	6.37:g.161123390G>T		Somatic		Capture	Illumina HiSeq	Phase_I	161043380	.	Q15146|Q5TEH4|Q6PA00	Intron	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.343	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
QKI	9444	broad.mit.edu	37	6	163987004	163987004	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163987004G>T	ENST00000361752.3	+	7	1485				QKI_ENST00000361195.2_Intron|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR|QKI_ENST00000392127.2_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GAAAGGCTAAGAATTCAAGAA	0.403																																					.												.	.	0			.	6						.						122.0	114.0	117.0					6																	163987004		2203	4300	6503	163906994	SO:0001627	intron_variant	9444	.			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.935-749G>T	6.37:g.163987004G>T		Somatic		Capture	Illumina HiSeq	Phase_I	163906994	.	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Intron	SNP	ENST00000361752.3	37	CCDS5285.1																																																																																				0.403	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
QKI	9444	broad.mit.edu	37	6	163987745	163987745	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:163987745T>G	ENST00000361752.3	+	7	1485				QKI_ENST00000361195.2_Intron|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR|QKI_ENST00000392127.2_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAATTGCAATTTAACTAGGTG	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						92.0	81.0	85.0					6																	163987745		2203	4300	6503	163907735	SO:0001627	intron_variant	9444	.			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.935-8T>G	6.37:g.163987745T>G		Somatic		Capture	Illumina HiSeq	Phase_I	163907735	.	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Intron	SNP	ENST00000361752.3	37	CCDS5285.1																																																																																				0.398	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
PDE10A	10846	broad.mit.edu	37	6	165829676	165829676	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:165829676C>T	ENST00000366882.1	-	13	1216		c.e13+1		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.?(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTATTTCTTACCTGTTAAAGC	0.463																																					.	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Unknown(1)	large_intestine(1)	.	6						.						235.0	206.0	216.0					6																	165829676		2203	4300	6503	165749666	SO:0001630	splice_region_variant	10846	.			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1061+1G>A	6.37:g.165829676C>T		Somatic		Capture	Illumina HiSeq	Phase_I	165749666	.	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7528	0.91821	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE10A	165749666	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.538000	0.82048	2.430000	0.82344	0.561000	0.74099	.		0.463	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Intron
MPC1	51660	broad.mit.edu	37	6	166778949	166778949	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:166778949G>T	ENST00000360961.6	-	5	427				MPC1_ENST00000487218.1_Intron|MPC1_ENST00000341756.6_Intron	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1						cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)	p.?(1)									ATCCTGGAAAGAAACAAAAAG	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						76.0	65.0	69.0					6																	166778949		2201	4300	6501	166698939	SO:0001627	intron_variant	51660	.			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.306-8C>A	6.37:g.166778949G>T		Somatic		Capture	Illumina HiSeq	Phase_I	166698939	.	B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Intron	SNP	ENST00000360961.6	37	CCDS5293.1																																																																																				0.378	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098	
C6orf120	387263	broad.mit.edu	37	6	170104098	170104098	+	3'UTR	SNP	T	T	G	rs200839862		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170104098T>G	ENST00000332290.2	+	0	1842				WDR27_ENST00000420344.2_5'Flank|PHF10_ENST00000339209.4_3'UTR|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000448612.1_5'Flank|PHF10_ENST00000366780.4_3'UTR	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120						apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CAAAAACTATTTTATCCCTCT	0.378																																					.												.	.	0			.	6						.						82.0	78.0	80.0					6																	170104098		2203	4300	6503	169846023	SO:0001624	3_prime_UTR_variant	55274	.			AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.*967T>G	6.37:g.170104098T>G		Somatic		Capture	Illumina HiSeq	Phase_I	169846023	.	B4DHE9|E1P5C9	3'UTR	SNP	ENST00000332290.2	37	CCDS34575.1																																																																																				0.378	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863	
TBP	6908	broad.mit.edu	37	6	170870905	170870905	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr6:170870905C>A	ENST00000392092.2	+	3	360	c.81C>A	c.(79-81)atC>atA	p.I27I	TBP_ENST00000230354.6_Silent_p.I27I|TBP_ENST00000540980.1_Silent_p.I7I	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	27					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GAATCCCTATCTTTAGTCCAA	0.488																																					p.I27I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81A	6						.						150.0	148.0	149.0					6																	170870905		2203	4300	6503	170712830	SO:0001819	synonymous_variant	6908	exon3			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.81C>A	6.37:g.170870905C>A		Somatic		Capture	Illumina HiSeq	Phase_I	170712830	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.488	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
TAS2R39	259285	broad.mit.edu	37	7	142880621	142880621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142880621delT	ENST00000446620.1	+	1	110	c.110delT	c.(109-111)attfs	p.I37fs		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	37					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L38fs*1(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATCACCTTAATTTTAGCAGTT	0.403																																					p.I37fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.110delT	7						.						135.0	124.0	128.0					7																	142880621		1947	4147	6094	142590743	SO:0001589	frameshift_variant	259285	exon1			AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.110delT	7.37:g.142880621delT	ENSP00000405095:p.Ile37fs	Somatic		Capture	Illumina HiSeq	Phase_I	142590743	NM_176881	A4FUI7|Q3ZCN6|Q645W4	Frame_Shift_Del	DEL	ENST00000446620.1	37	CCDS47729.1																																																																																				0.403	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881	
FBXO24	26261	broad.mit.edu	37	7	100198220	100198220	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100198220G>A	ENST00000241071.6	+	10	1763	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.D519N|FBXO24_ENST00000468962.1_Missense_Mutation_p.D469N|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	481					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.D481N(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTCCAGCCACGACATTGAGCA	0.667																																					p.D469N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1405A	7						.						87.0	66.0	73.0					7																	100198220		2203	4300	6503	100036156	SO:0001583	missense	26261	exon10			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1441G>A	7.37:g.100198220G>A	ENSP00000241071:p.Asp481Asn	Somatic		Capture	Illumina HiSeq	Phase_I	100036156	NM_001163499	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	g	14.90	2.674740	0.47781	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.28666	1.65;1.66;1.6	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.99;0.99;0.99;0.99	T	0.23904	-1.0175	10	0.52906	T	0.07	-24.1343	12.4728	0.55797	0.0:0.0:1.0:0.0	.	469;519;481;481	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	N	481;469;519	ENSP00000241071:D481N;ENSP00000420239:D469N;ENSP00000416558:D519N	ENSP00000241071:D481N	D	+	1	0	FBXO24	100036156	1.000000	0.71417	0.976000	0.42696	0.055000	0.15305	5.733000	0.68571	2.299000	0.77371	0.552000	0.68991	GAC		0.667	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
ZAN	7455	broad.mit.edu	37	7	100350723	100350723	+	RNA	SNP	G	G	T	rs532599389	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100350723G>T	ENST00000348028.3	+	0	3160				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A999S(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGCTCACAGCCCTGAGGCC	0.572													g|||	3	0.000599042	0.0	0.0	5008	,	,		19544	0.003		0.0	False		,,,				2504	0.0				p.A999S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2995T	7						.						126.0	148.0	141.0					7																	100350723		1938	4134	6072	100188659			7455	exon14			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350723G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100188659	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	11.31	1.602001	0.28534	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71579	-0.58;-0.58;-0.58	2.76	-0.192	0.13248	.	3.043780	0.01363	N	0.012304	T	0.63402	0.2508	L	0.34521	1.04	0.09310	N	0.999998	D;B	0.56035	0.974;0.214	P;B	0.47402	0.546;0.266	T	0.51779	-0.8662	10	0.39692	T	0.17	.	3.2796	0.06911	0.2701:0.2224:0.5075:0.0	.	999;999	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	999	ENSP00000445943:A999S;ENSP00000445091:A999S;ENSP00000444427:A999S	ENSP00000423579:A999S	A	+	1	0	ZAN	100188659	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.024000	0.01436	-0.042000	0.13535	-0.169000	0.13324	GCC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
SLC12A9	56996	broad.mit.edu	37	7	100457838	100457838	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100457838C>A	ENST00000354161.3	+	9	1327	c.1202C>A	c.(1201-1203)tCt>tAt	p.S401Y	SLC12A9_ENST00000428758.1_Missense_Mutation_p.S401Y|SLC12A9_ENST00000275729.3_Missense_Mutation_p.S312Y|SLC12A9_ENST00000415287.1_Missense_Mutation_p.S312Y|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000540482.1_Missense_Mutation_p.S401Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	401					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.S401Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTACTTTATTCTTGGGGCCTG	0.582																																					p.S401Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1202A	7						.						47.0	47.0	47.0					7																	100457838		2203	4300	6503	100295774	SO:0001583	missense	56996	exon9			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1202C>A	7.37:g.100457838C>A	ENSP00000275730:p.Ser401Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100295774	NM_020246	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591818	0.86953	.	.	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	D;D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	5.03	5.03	0.67393	Amino acid permease domain (1);	0.056200	0.64402	D	0.000001	D	0.99309	0.9758	M	0.87682	2.9	0.53688	D	0.999975	D;D	0.76494	0.997;0.999	D;D	0.75484	0.976;0.986	D	0.98936	1.0789	10	0.87932	D	0	.	15.882	0.79211	0.0:1.0:0.0:0.0	.	312;401	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	Y	401;137;401;312;312;401;209	ENSP00000443702:S401Y;ENSP00000406560:S137Y;ENSP00000408301:S401Y;ENSP00000275729:S312Y;ENSP00000413796:S312Y;ENSP00000275730:S401Y;ENSP00000410692:S209Y	ENSP00000275729:S312Y	S	+	2	0	SLC12A9	100295774	1.000000	0.71417	0.944000	0.38274	0.954000	0.61252	4.783000	0.62403	2.597000	0.87782	0.655000	0.94253	TCT		0.582	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
TRIP6	7205	broad.mit.edu	37	7	100468233	100468233	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100468233T>C	ENST00000200457.4	+	6	1227	c.867T>C	c.(865-867)gaT>gaC	p.D289D		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	289	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)	p.D289D(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGTTGGGGATGGGGCTGGGG	0.597																																					p.D289D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T867C	7						.						180.0	164.0	169.0					7																	100468233		2203	4300	6503	100306169	SO:0001819	synonymous_variant	7205	exon6			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.867T>C	7.37:g.100468233T>C		Somatic		Capture	Illumina HiSeq	Phase_I	100306169	NM_003302	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	t	5.691	0.312014	0.10789	.	.	ENSG00000087077	ENST00000429658	.	.	.	5.66	0.625	0.17665	.	.	.	.	.	T	0.51143	0.1657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	.	5.5102	0.16876	0.1229:0.3014:0.0:0.5757	.	.	.	.	T	63	.	.	M	+	2	0	TRIP6	100306169	0.037000	0.19845	0.994000	0.49952	0.518000	0.34316	-0.924000	0.03996	-0.135000	0.11495	-1.514000	0.00941	ATG		0.597	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302	
MUC17	140453	broad.mit.edu	37	7	100682166	100682166	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100682166C>A	ENST00000306151.4	+	3	7533	c.7469C>A	c.(7468-7470)tCt>tAt	p.S2490Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2490	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S2490Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGACCACTTCTACTGAAGCC	0.498																																					p.S2490Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7469A	7						.						280.0	284.0	283.0					7																	100682166		2203	4300	6503	100468886	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7469C>A	7.37:g.100682166C>A	ENSP00000302716:p.Ser2490Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100468886	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.443	0.641083	0.14386	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.06	1.06	0.20224	.	.	.	.	.	T	0.04092	0.0114	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.56823	0.807	T	0.08848	-1.0702	9	0.02654	T	1	.	8.1469	0.31117	0.0:1.0:0.0:0.0	.	2490	Q685J3	MUC17_HUMAN	Y	2490	ENSP00000302716:S2490Y	ENSP00000302716:S2490Y	S	+	2	0	MUC17	100468886	0.009000	0.17119	0.001000	0.08648	0.011000	0.07611	3.219000	0.51200	0.910000	0.36722	0.134000	0.15878	TCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100701288	100701288	+	Missense_Mutation	SNP	G	G	A	rs9656065	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100701288G>A	ENST00000306151.4	+	13	13509	c.13445G>A	c.(13444-13446)cGa>cAa	p.R4482Q	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4482			R -> Q (in dbSNP:rs9656065).		cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.R4482Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTCAGATCCGAATTCAGAGG	0.473													g|||	30	0.00599042	0.0219	0.0014	5008	,	,		17082	0.0		0.0	False		,,,				2504	0.0				p.R4482Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13445A	7						.	G	GLN/ARG	72,4334	64.7+/-102.0	2,68,2133	94.0	87.0	90.0		13445	-7.1	0.0	7	dbSNP_119	90	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MUC17	NM_001040105.1	43	2,71,6430	AA,AG,GG		0.0349,1.6341,0.5767	benign	4482/4494	100701288	75,12931	2203	4300	6503	100488008	SO:0001583	missense	140453	exon13			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13445G>A	7.37:g.100701288G>A	ENSP00000302716:p.Arg4482Gln	Somatic		Capture	Illumina HiSeq	Phase_I	100488008	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	g	5.458	0.269542	0.10349	0.016341	3.49E-4	ENSG00000169876	ENST00000306151	T	0.01821	4.62	3.54	-7.08	0.01558	.	.	.	.	.	T	0.00300	0.0009	N	0.02916	-0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.49399	-0.8944	9	0.15499	T	0.54	.	7.3198	0.26521	0.2368:0.2816:0.4815:0.0	rs9656065;rs10242617;rs52802320;rs9656065	4482	Q685J3	MUC17_HUMAN	Q	4482	ENSP00000302716:R4482Q	ENSP00000302716:R4482Q	R	+	2	0	MUC17	100488008	0.096000	0.21769	0.030000	0.17652	0.482000	0.33219	-0.372000	0.07504	-1.791000	0.01261	-1.307000	0.01316	CGA		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
LRWD1	222229	broad.mit.edu	37	7	102106651	102106651	+	Silent	SNP	C	C	A	rs367752802		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:102106651C>A	ENST00000292616.5	+	3	518	c.366C>A	c.(364-366)gtC>gtA	p.V122V	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	122					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.V122V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TCCGTAAGGTCAATGGCAAGG	0.537																																					p.V122V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366A	7						.						137.0	116.0	123.0					7																	102106651		2203	4300	6503	101893656	SO:0001819	synonymous_variant	222229	exon3			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.366C>A	7.37:g.102106651C>A		Somatic		Capture	Illumina HiSeq	Phase_I	101893656	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	CCDS34715.1																																																																																				0.537	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
FBXL13	222235	broad.mit.edu	37	7	102669146	102669146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:102669146T>A	ENST00000313221.4	-	4	544	c.118A>T	c.(118-120)Aaa>Taa	p.K40*	RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.K40*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.K40*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.K40*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.K40*|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.K40*|FBXL13_ENST00000393772.2_Nonsense_Mutation_p.K40*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.K40*	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	40								p.K40*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTCATTTTTTCAGCCAGG	0.348																																					p.K40X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A118T	7						.						94.0	88.0	90.0					7																	102669146		2203	4300	6503	102456382	SO:0001587	stop_gained	222235	exon4			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.118A>T	7.37:g.102669146T>A	ENSP00000321927:p.Lys40*	Somatic		Capture	Illumina HiSeq	Phase_I	102456382	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093504	0.94149	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	.	.	.	3.94	2.77	0.32553	.	0.084067	0.48286	D	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5255	0.27653	0.0:0.0:0.2194:0.7806	.	.	.	.	X	40;40;40;40;40;40;40;40;130	.	ENSP00000321927:K40X	K	-	1	0	FBXL13	102456382	0.994000	0.37717	0.204000	0.23530	0.023000	0.10783	0.960000	0.29253	0.844000	0.35094	0.377000	0.23210	AAA		0.348	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
PSMC2	5701	broad.mit.edu	37	7	103007905	103007905	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:103007905G>T	ENST00000435765.1	+	11	1301	c.890G>T	c.(889-891)aGa>aTa	p.R297I	PSMC2_ENST00000292644.3_Missense_Mutation_p.R297I|PSMC2_ENST00000544811.1_Missense_Mutation_p.R160I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R297I(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGTGCAGAGAACAATGTTG	0.433																																					p.R297I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890T	7						.						145.0	131.0	136.0					7																	103007905		2203	4300	6503	102795141	SO:0001583	missense	5701	exon10			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.890G>T	7.37:g.103007905G>T	ENSP00000391211:p.Arg297Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102795141	NM_002803	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054862	0.93793	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94092	-3.35;-3.35;-3.35	5.24	5.24	0.73138	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97211	0.9871	10	0.87932	D	0	-16.6287	18.8843	0.92370	0.0:0.0:1.0:0.0	.	297	P35998	PRS7_HUMAN	I	297;297;160	ENSP00000391211:R297I;ENSP00000292644:R297I;ENSP00000445546:R160I	ENSP00000292644:R297I	R	+	2	0	PSMC2	102795141	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.771000	0.98977	2.462000	0.83206	0.650000	0.86243	AGA		0.433	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	
RELN	5649	broad.mit.edu	37	7	103124112	103124112	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:103124112T>C	ENST00000428762.1	-	62	10328	c.10169A>G	c.(10168-10170)tAc>tGc	p.Y3390C	RELN_ENST00000473945.1_5'UTR|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.Y3390C|RELN_ENST00000343529.5_Missense_Mutation_p.Y3390C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3390					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Y3390C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGGACATTGTAAGACACTCT	0.507																																					p.Y3390C	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10169G	7						.						264.0	230.0	242.0					7																	103124112		2203	4300	6503	102911348	SO:0001583	missense	5649	exon62				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10169A>G	7.37:g.103124112T>C	ENSP00000392423:p.Tyr3390Cys	Somatic		Capture	Illumina HiSeq	Phase_I	102911348	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514784	0.85389	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.32272	1.46;1.46;1.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.45862	-0.9232	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	3390;3390	P78509-2;P78509	.;RELN_HUMAN	C	3390;3390;3390;907;3390	ENSP00000392423:Y3390C;ENSP00000345694:Y3390C;ENSP00000388446:Y3390C	ENSP00000345694:Y3390C	Y	-	2	0	RELN	102911348	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.484000	0.81180	2.281000	0.76405	0.533000	0.62120	TAC		0.507	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103138537	103138537	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:103138537G>T	ENST00000428762.1	-	54	8989	c.8830C>A	c.(8830-8832)Ctt>Att	p.L2944I	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.L2944I|RELN_ENST00000343529.5_Missense_Mutation_p.L2944I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2944					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L2944I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCACCTCGAAGATCCAAATCT	0.418																																					p.L2944I	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8830A	7						.						103.0	99.0	100.0					7																	103138537		2203	4300	6503	102925773	SO:0001583	missense	5649	exon54				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8830C>A	7.37:g.103138537G>T	ENSP00000392423:p.Leu2944Ile	Somatic		Capture	Illumina HiSeq	Phase_I	102925773	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049508	0.75846	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.36340	1.26;1.26;1.26	5.89	4.91	0.64330	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.76170	2.325	0.45452	D	0.998423	P;P	0.48230	0.907;0.877	D;P	0.64687	0.928;0.709	T	0.58165	-0.7684	10	0.72032	D	0.01	.	11.2722	0.49147	0.1482:0.0:0.8518:0.0	.	2944;2944	P78509-2;P78509	.;RELN_HUMAN	I	2944;2944;2944;461;2944	ENSP00000392423:L2944I;ENSP00000345694:L2944I;ENSP00000388446:L2944I	ENSP00000345694:L2944I	L	-	1	0	RELN	102925773	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.385000	0.59613	2.793000	0.96121	0.655000	0.94253	CTT		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103141235	103141235	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:103141235G>A	ENST00000428762.1	-	53	8783	c.8624C>T	c.(8623-8625)cCg>cTg	p.P2875L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.P2875L|RELN_ENST00000343529.5_Missense_Mutation_p.P2875L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2875	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P2875L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGTATCCCGGATCACAGAT	0.517																																					p.P2875L	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8624T	7						.						230.0	182.0	198.0					7																	103141235		2203	4300	6503	102928471	SO:0001583	missense	5649	exon53				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8624C>T	7.37:g.103141235G>A	ENSP00000392423:p.Pro2875Leu	Somatic		Capture	Illumina HiSeq	Phase_I	102928471	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056907	0.55325	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.62105	0.05;0.05;0.05	5.36	4.47	0.54385	Neuraminidase (2);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.114208	0.64402	D	0.000011	T	0.56731	0.2005	L	0.52011	1.625	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.57545	-0.7793	10	0.54805	T	0.06	.	14.3005	0.66346	0.0725:0.0:0.9275:0.0	.	2875;2875	P78509-2;P78509	.;RELN_HUMAN	L	2875;2875;2875;392;2875	ENSP00000392423:P2875L;ENSP00000345694:P2875L;ENSP00000388446:P2875L	ENSP00000345694:P2875L	P	-	2	0	RELN	102928471	1.000000	0.71417	0.933000	0.37362	0.931000	0.56810	7.640000	0.83355	2.489000	0.83994	0.655000	0.94253	CCG		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103292127	103292127	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:103292127A>G	ENST00000428762.1	-	15	2032	c.1873T>C	c.(1873-1875)Tcc>Ccc	p.S625P	RELN_ENST00000343529.5_Missense_Mutation_p.S625P|RELN_ENST00000424685.2_Missense_Mutation_p.S625P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	625					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S625P(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTTCAGAGGAGTAGACAGTG	0.453																																					p.S625P	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1873C	7						.						72.0	64.0	66.0					7																	103292127		2203	4300	6503	103079363	SO:0001583	missense	5649	exon15				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1873T>C	7.37:g.103292127A>G	ENSP00000392423:p.Ser625Pro	Somatic		Capture	Illumina HiSeq	Phase_I	103079363	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660525	0.67586	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25749	1.78;1.87;2.03	5.62	4.46	0.54185	.	0.116923	0.64402	N	0.000013	T	0.31734	0.0806	L	0.58101	1.795	0.45066	D	0.998082	P;B	0.46621	0.881;0.31	P;B	0.48654	0.585;0.177	T	0.05289	-1.0894	10	0.66056	D	0.02	.	7.9204	0.29843	0.7472:0.1767:0.0761:0.0	.	625;625	P78509-2;P78509	.;RELN_HUMAN	P	625	ENSP00000392423:S625P;ENSP00000345694:S625P;ENSP00000388446:S625P	ENSP00000345694:S625P	S	-	1	0	RELN	103079363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.925000	0.56484	0.967000	0.38186	0.460000	0.39030	TCC		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
KMT2E	55904	broad.mit.edu	37	7	104717599	104717599	+	Missense_Mutation	SNP	G	G	A	rs541275939		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:104717599G>A	ENST00000311117.3	+	10	1503	c.958G>A	c.(958-960)Gat>Aat	p.D320N	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.D320N|KMT2E_ENST00000334877.4_Missense_Mutation_p.D320N|KMT2E_ENST00000257745.4_Missense_Mutation_p.D320N	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	320					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.D320N(1)									GAATAAATCCGATTTGAATAC	0.343																																					p.D320N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	7						.						87.0	79.0	82.0					7																	104717599		2203	4300	6503	104504835	SO:0001583	missense	55904	exon10			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.958G>A	7.37:g.104717599G>A	ENSP00000312379:p.Asp320Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104504835	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248464	0.39797	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95482	-2.78;-2.45;-2.78;-3.72;-3.2	6.07	5.2	0.72013	.	0.180201	0.45867	N	0.000335	D	0.85487	0.5708	N	0.02011	-0.69	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.80674	-0.1277	10	0.37606	T	0.19	.	9.3557	0.38164	0.16:0.0:0.84:0.0	.	320;320	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	N	320;320;320;320;320;178;320;254	ENSP00000312379:D320N;ENSP00000335599:D320N;ENSP00000257745:D320N;ENSP00000419883:D178N;ENSP00000417888:D320N	ENSP00000257745:D320N	D	+	1	0	MLL5	104504835	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.979000	0.49313	1.578000	0.49821	0.655000	0.94253	GAT		0.343	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104749414	104749414	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:104749414G>T	ENST00000311117.3	+	23	4039	c.3494G>T	c.(3493-3495)aGa>aTa	p.R1165I	KMT2E_ENST00000334914.7_Missense_Mutation_p.R220I|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Missense_Mutation_p.R1165I|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1165I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1165					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.R1165I(1)									TACCGTAAGAGACAACGTGAA	0.378																																					p.R1165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3494T	7						.						47.0	43.0	44.0					7																	104749414		2203	4300	6503	104536650	SO:0001583	missense	55904	exon23			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.3494G>T	7.37:g.104749414G>T	ENSP00000312379:p.Arg1165Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104536650	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900095	0.92035	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.62148	-0.6915	10	0.87932	D	0	.	18.2717	0.90070	0.0:0.0:1.0:0.0	.	1165	Q8IZD2	MLL5_HUMAN	I	1165;1165;1165;1085;1165;220	ENSP00000312379:R1165I;ENSP00000335599:R1165I;ENSP00000257745:R1165I;ENSP00000333986:R220I	ENSP00000257745:R1165I	R	+	2	0	MLL5	104536650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.492000	0.90471	2.746000	0.94184	0.591000	0.81541	AGA		0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104752464	104752464	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:104752464G>A	ENST00000311117.3	+	27	4806	c.4261G>A	c.(4261-4263)Gtt>Att	p.V1421I	KMT2E_ENST00000334914.7_Missense_Mutation_p.V476I|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.V1379I|KMT2E_ENST00000257745.4_Missense_Mutation_p.V1421I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1421					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.V1421I(2)									TCAGACACACGTTCGTAATTC	0.423																																					p.V1421I												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G4261A	7						.						136.0	126.0	129.0					7																	104752464		2203	4300	6503	104539700	SO:0001583	missense	55904	exon27			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.4261G>A	7.37:g.104752464G>A	ENSP00000312379:p.Val1421Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104539700	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068526	0.36470	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91686	-2.89;-2.59;-2.89;0.86	5.22	1.35	0.21983	.	1.039230	0.07653	N	0.932373	D	0.82944	0.5147	N	0.19112	0.55	0.09310	N	1	B;B	0.14805	0.011;0.0	B;B	0.06405	0.002;0.001	T	0.66544	-0.5897	10	0.22706	T	0.39	.	4.0479	0.09781	0.1592:0.4555:0.2754:0.1098	.	1341;1421	F8W6H1;Q8IZD2	.;MLL5_HUMAN	I	1421;1421;1379;1341;1421;476	ENSP00000312379:V1421I;ENSP00000335599:V1379I;ENSP00000257745:V1421I;ENSP00000333986:V476I	ENSP00000257745:V1421I	V	+	1	0	MLL5	104539700	0.005000	0.15991	0.000000	0.03702	0.733000	0.41908	0.647000	0.24812	-0.040000	0.13580	0.650000	0.86243	GTT		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
PUS7	54517	broad.mit.edu	37	7	105105799	105105799	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:105105799G>A	ENST00000356362.2	-	13	1802	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	PUS7_ENST00000469408.1_Missense_Mutation_p.P530S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	530	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.P530S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CCAGGCAAGGGCATTACCACA	0.338																																					p.P530S	Colon(138;2387 3051 17860)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1588T	7						.						121.0	110.0	114.0					7																	105105799		2203	4300	6503	104893035	SO:0001583	missense	54517	exon13			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1588C>T	7.37:g.105105799G>A	ENSP00000348722:p.Pro530Ser	Somatic		Capture	Illumina HiSeq	Phase_I	104893035	NM_019042	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.820353	0.90873	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81204	-0.1039	10	0.66056	D	0.02	-21.9866	19.2743	0.94026	0.0:0.0:1.0:0.0	.	530;530	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	530	ENSP00000348722:P530S;ENSP00000417402:P530S	ENSP00000348722:P530S	P	-	1	0	PUS7	104893035	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.462000	0.97649	2.785000	0.95823	0.637000	0.83480	CCC		0.338	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
NAMPT	10135	broad.mit.edu	37	7	105903950	105903950	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:105903950G>A	ENST00000222553.3	-	7	1164	c.857C>T	c.(856-858)gCg>gTg	p.A286V	NAMPT_ENST00000354289.4_Missense_Mutation_p.A286V	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	286					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)	p.A286V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTTCTCACACGCATTATAAAT	0.388																																					p.A286V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857T	7						.						114.0	105.0	108.0					7																	105903950		2203	4300	6503	105691186	SO:0001583	missense	10135	exon7			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.857C>T	7.37:g.105903950G>A	ENSP00000222553:p.Ala286Val	Somatic		Capture	Illumina HiSeq	Phase_I	105691186	NM_005746	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077322	0.94000	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	5.39	5.39	0.77823	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.985;0.998	T	0.72087	-0.4396	9	0.30078	T	0.28	-19.7812	19.5154	0.95162	0.0:0.0:1.0:0.0	.	199;267;286	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	V	286	.	ENSP00000222553:A286V	A	-	2	0	NAMPT	105691186	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.420000	0.97426	2.685000	0.91497	0.655000	0.94253	GCG		0.388	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790	
PIK3CG	5294	broad.mit.edu	37	7	106509539	106509539	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:106509539G>T	ENST00000359195.3	+	2	1843	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E511D|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E511D	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	511	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E511D(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGACAAGGAGAACTCAATGT	0.532																																					p.E511D												PIK3CG,lung,NS,Substitution - Missense,+2 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1533T	7						.						162.0	145.0	151.0					7																	106509539		2203	4300	6503	106296775	SO:0001583	missense	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1533G>T	7.37:g.106509539G>T	ENSP00000352121:p.Glu511Asp	Somatic		Capture	Illumina HiSeq	Phase_I	106296775	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276388	0.23307	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70631	-0.5;-0.5;-0.5	6.02	1.99	0.26369	C2 calcium/lipid-binding domain, CaLB (1);	0.402359	0.31648	N	0.007285	T	0.52629	0.1746	L	0.46614	1.455	0.46131	D	0.99888	B	0.12013	0.005	B	0.18263	0.021	T	0.26710	-1.0095	10	0.11182	T	0.66	-24.83	1.8655	0.03198	0.1932:0.119:0.4438:0.244	.	511	P48736	PK3CG_HUMAN	D	511	ENSP00000392258:E511D;ENSP00000419260:E511D;ENSP00000352121:E511D	ENSP00000352121:E511D	E	+	3	2	PIK3CG	106296775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.806000	0.27126	0.400000	0.25396	0.655000	0.94253	GAG		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
HBP1	26959	broad.mit.edu	37	7	106840703	106840703	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:106840703A>C	ENST00000222574.4	+	10	1670	c.1484A>C	c.(1483-1485)aAa>aCa	p.K495T	HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.K495T|HBP1_ENST00000468410.1_Missense_Mutation_p.K495T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	495					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.K495T(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GAAGAACAGAAACGTTTAAAT	0.378																																					p.K495T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1484C	7						.						121.0	114.0	117.0					7																	106840703		2203	4300	6503	106627939	SO:0001583	missense	26959	exon10			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1484A>C	7.37:g.106840703A>C	ENSP00000222574:p.Lys495Thr	Somatic		Capture	Illumina HiSeq	Phase_I	106627939	NM_012257	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829836	0.91036	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846	D;D;D	0.98120	-4.73;-4.73;-4.73	5.6	5.6	0.85130	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.99609	1.0980	10	0.59425	D	0.04	-7.6273	16.0863	0.81056	1.0:0.0:0.0:0.0	.	505;495;495	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	T	495	ENSP00000420500:K495T;ENSP00000222574:K495T;ENSP00000418738:K495T	ENSP00000222574:K495T	K	+	2	0	HBP1	106627939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.152000	0.94680	2.251000	0.74343	0.528000	0.53228	AAA		0.378	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257	
SLC26A4	5172	broad.mit.edu	37	7	107329521	107329521	+	Missense_Mutation	SNP	C	C	A	rs371249912		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107329521C>A	ENST00000265715.3	+	9	1249	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	342					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.P342H(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAACTTCCACCTGTGAGCTTG	0.428									Pendred syndrome																												p.P342H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1025A	7						.						158.0	147.0	151.0					7																	107329521		2203	4300	6503	107116757	SO:0001583	missense	5172	exon9	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1025C>A	7.37:g.107329521C>A	ENSP00000265715:p.Pro342His	Somatic		Capture	Illumina HiSeq	Phase_I	107116757	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900389	0.33535	.	.	ENSG00000091137	ENST00000265715	D	0.92752	-3.1	5.62	3.74	0.42951	Sulphate transporter (1);	1.132110	0.06508	N	0.737553	D	0.90854	0.7127	L	0.31664	0.95	0.09310	N	0.999999	P	0.37176	0.586	P	0.46419	0.516	T	0.81373	-0.0962	10	0.66056	D	0.02	.	9.6638	0.39972	0.2533:0.5127:0.234:0.0	.	342	O43511	S26A4_HUMAN	H	342	ENSP00000265715:P342H	ENSP00000265715:P342H	P	+	2	0	SLC26A4	107116757	0.007000	0.16637	0.001000	0.08648	0.450000	0.32258	0.737000	0.26144	0.676000	0.31285	0.561000	0.74099	CCT		0.428	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
LAMB4	22798	broad.mit.edu	37	7	107703378	107703378	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107703378G>A	ENST00000388781.3	-	23	3206	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C	LAMB4_ENST00000205386.4_Silent_p.C1041C|LAMB4_ENST00000388780.3_Silent_p.C1041C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1041	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.C1041C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTCACAGAGGCAAGCTCCCC	0.557																																					p.C1041C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3123T	7						.						64.0	56.0	59.0					7																	107703378		2203	4300	6503	107490614	SO:0001819	synonymous_variant	22798	exon23			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3123C>T	7.37:g.107703378G>A		Somatic		Capture	Illumina HiSeq	Phase_I	107490614	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																				0.557	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
NRCAM	4897	broad.mit.edu	37	7	107790372	107790372	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107790372T>G	ENST00000425651.2	-	30	3897	c.3898A>C	c.(3898-3900)Atg>Ctg	p.M1300L	NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Missense_Mutation_p.M1176L|NRCAM_ENST00000379028.3_Missense_Mutation_p.M1300L|NRCAM_ENST00000379024.4_Missense_Mutation_p.M1188L|NRCAM_ENST00000351718.4_Missense_Mutation_p.M1179L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1300					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.M1179L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAGGAATTCATGGCGTTGACA	0.408																																					p.M1188L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3562C	7						.						132.0	126.0	128.0					7																	107790372		2203	4300	6503	107577608	SO:0001583	missense	4897	exon30				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3898A>C	7.37:g.107790372T>G	ENSP00000401244:p.Met1300Leu	Somatic		Capture	Illumina HiSeq	Phase_I	107577608	NM_001193583	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912558	0.72983	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	T;T;T;T;T	0.55413	0.52;0.8;0.52;0.58;0.52	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.36672	1.1	0.80722	D	1	B;B;P;B;B;B;B	0.40032	0.08;0.002;0.699;0.127;0.336;0.227;0.013	B;B;P;B;B;B;B	0.47251	0.138;0.011;0.542;0.029;0.171;0.052;0.006	T	0.55970	-0.8056	10	0.56958	D	0.05	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1304;146;1176;1188;1179;1300;83	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.;.;.;.;.;NRCAM_HUMAN;.	L	1304;1300;1176;144;1179;1188;1300	ENSP00000368314:M1300L;ENSP00000407858:M1176L;ENSP00000325269:M1179L;ENSP00000368310:M1188L;ENSP00000401244:M1300L	ENSP00000325269:M1179L	M	-	1	0	NRCAM	107577608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.367000	0.80283	0.528000	0.53228	ATG		0.408	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
NRCAM	4897	broad.mit.edu	37	7	107866733	107866733	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107866733C>T	ENST00000425651.2	-	6	639	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	NRCAM_ENST00000413765.2_Missense_Mutation_p.E214K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E214K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E208K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E214K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	214	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.E208K(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATATAGTCTTCGCGGGTGTCC	0.423																																					p.E214K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	7						.						127.0	135.0	132.0					7																	107866733		2203	4300	6503	107653969	SO:0001583	missense	4897	exon9				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.640G>A	7.37:g.107866733C>T	ENSP00000401244:p.Glu214Lys	Somatic		Capture	Illumina HiSeq	Phase_I	107653969	NM_001193583	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104497	0.56291	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313124	0.38272	N	0.001747	T	0.03477	0.0100	N	0.25647	0.755	0.39136	D	0.961952	P;P;P;P;B	0.41524	0.737;0.741;0.673;0.753;0.297	B;B;B;B;B	0.38921	0.209;0.285;0.22;0.14;0.088	T	0.62765	-0.6785	10	0.25106	T	0.35	.	19.8714	0.96852	0.0:1.0:0.0:0.0	.	214;214;214;208;214	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	214;214;214;214;208;214;214;214;208;208	ENSP00000368314:E214K;ENSP00000407858:E214K;ENSP00000325269:E208K;ENSP00000368310:E214K;ENSP00000401244:E214K;ENSP00000368308:E214K;ENSP00000390421:E208K	ENSP00000325269:E208K	E	-	1	0	NRCAM	107653969	0.982000	0.34865	0.970000	0.41538	0.983000	0.72400	3.118000	0.50414	2.761000	0.94854	0.650000	0.86243	GAA		0.423	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
THAP5	168451	broad.mit.edu	37	7	108205018	108205018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:108205018C>A	ENST00000415914.3	-	3	958	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	THAP5_ENST00000313516.5_Nonsense_Mutation_p.E227*|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	269					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.E107*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATAACAGATTCTTTATTTGTG	0.313																																					p.E227X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G679T	7						.						70.0	75.0	73.0					7																	108205018		2201	4297	6498	107992254	SO:0001587	stop_gained	168451	exon3			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.805G>T	7.37:g.108205018C>A	ENSP00000400500:p.Glu269*	Somatic		Capture	Illumina HiSeq	Phase_I	107992254	NM_182529		Nonsense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970779	0.74246	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	.	.	.	4.45	4.45	0.53987	.	1.342520	0.05724	U	0.598311	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1669	0.42886	0.0:0.9072:0.0:0.0928	.	.	.	.	X	269;227	.	.	E	-	1	0	THAP5	107992254	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.621000	0.46418	2.188000	0.69820	0.650000	0.86243	GAA		0.313	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529	
NDUFA4	4697	broad.mit.edu	37	7	10978457	10978457	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:10978457C>T	ENST00000339600.5	-	2	307	c.109G>A	c.(109-111)Gca>Aca	p.A37T	NDUFA4_ENST00000492822.1_5'Flank|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	37					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)	p.A37T(1)		large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGAACAATGCCAGACGCAAG	0.393																																					p.A37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	7						.						85.0	88.0	87.0					7																	10978457		2203	4300	6503	10944982	SO:0001583	missense	4697	exon2			U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.109G>A	7.37:g.10978457C>T	ENSP00000339720:p.Ala37Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10944982	NM_002489	A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107315	0.56291	.	.	ENSG00000189043	ENST00000339600	T	0.78816	-1.21	4.97	4.97	0.65823	.	0.113627	0.64402	D	0.000013	D	0.87152	0.6106	.	.	.	0.53688	D	0.999973	D	0.89917	1.0	D	0.77004	0.989	D	0.87526	0.2449	9	0.56958	D	0.05	-9.5832	13.9257	0.63961	0.0:1.0:0.0:0.0	.	37	O00483	NDUA4_HUMAN	T	37	ENSP00000339720:A37T	ENSP00000339720:A37T	A	-	1	0	NDUFA4	10944982	1.000000	0.71417	0.895000	0.35142	0.012000	0.07955	5.306000	0.65756	2.748000	0.94277	0.655000	0.94253	GCA		0.393	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489	
DNAJB9	4189	broad.mit.edu	37	7	108212276	108212276	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:108212276T>G	ENST00000249356.3	+	2	652	c.106T>G	c.(106-108)Tcg>Gcg	p.S36A	THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000493722.1_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.S36A(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGTGCCAAAATCGGCATCAGA	0.408																																					p.S36A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T106G	7						.						103.0	113.0	109.0					7																	108212276		2203	4300	6503	107999512	SO:0001583	missense	4189	exon2			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.106T>G	7.37:g.108212276T>G	ENSP00000249356:p.Ser36Ala	Somatic		Capture	Illumina HiSeq	Phase_I	107999512	NM_012328		Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.770123	0.49680	.	.	ENSG00000128590	ENST00000249356	T	0.74209	-0.82	5.34	4.11	0.48088	Heat shock protein DnaJ, N-terminal (5);	0.181794	0.47093	D	0.000259	T	0.59824	0.2222	N	0.25992	0.78	0.25033	N	0.991259	B	0.20459	0.045	B	0.29077	0.098	T	0.45934	-0.9227	9	.	.	.	.	8.2366	0.31629	0.3284:0.0:0.0:0.6716	.	36	Q9UBS3	DNJB9_HUMAN	A	36	ENSP00000249356:S36A	.	S	+	1	0	DNAJB9	107999512	1.000000	0.71417	0.652000	0.29579	0.996000	0.88848	5.303000	0.65738	2.010000	0.58986	0.460000	0.39030	TCG		0.408	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1		
DOCK4	9732	broad.mit.edu	37	7	111400363	111400363	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:111400363A>C	ENST00000437633.1	-	39	4265	c.4009T>G	c.(4009-4011)Tgt>Ggt	p.C1337G	DOCK4_ENST00000428084.1_Missense_Mutation_p.C1346G|DOCK4_ENST00000494651.2_Missense_Mutation_p.C220G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1337	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.C1334G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCCCTCGACACACAAACTCC	0.483																																					p.C1337G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4009G	7						.						134.0	134.0	134.0					7																	111400363		2010	4174	6184	111187599	SO:0001583	missense	9732	exon39				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4009T>G	7.37:g.111400363A>C	ENSP00000404179:p.Cys1337Gly	Somatic		Capture	Illumina HiSeq	Phase_I	111187599	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.209128|4.209128	0.79240|0.79240	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.06142|.	4.09;3.34;4.1|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.73674|0.73674	0.3617|0.3617	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.62365|.	0.979;0.988;0.991;0.979;0.988|.	P;P;P;P;P|.	0.58266|.	0.69;0.759;0.824;0.824;0.836|.	T|T	0.74973|0.74973	-0.3481|-0.3481	10|6	0.72032|.	D|.	0.01|.	.|.	14.6461|14.6461	0.68762|0.68762	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	244;220;1382;1337;1346|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	G|W	1325;1346;220;1337;1334|797;1369	ENSP00000410746:C1346G;ENSP00000440944:C220G;ENSP00000404179:C1337G|.	ENSP00000345432:C1334G|.	C|C	-|-	1|3	0|2	DOCK4|DOCK4	111187599|111187599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.087000|9.087000	0.94110|0.94110	2.111000|2.111000	0.64477|0.64477	0.482000|0.482000	0.46254|0.46254	TGT|TGT		0.483	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
IFRD1	3475	broad.mit.edu	37	7	112115516	112115516	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:112115516G>A	ENST00000403825.3	+	12	1559	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	IFRD1_ENST00000535603.1_Missense_Mutation_p.R383Q|IFRD1_ENST00000005558.4_Missense_Mutation_p.R433Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	433					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)		p.R433Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTCAAAGCTCGAACCAAAGCT	0.318																																					p.R433Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1298A	7						.						64.0	65.0	64.0					7																	112115516		2203	4300	6503	111902752	SO:0001583	missense	3475	exon12			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1298G>A	7.37:g.112115516G>A	ENSP00000384477:p.Arg433Gln	Somatic		Capture	Illumina HiSeq	Phase_I	111902752	NM_001550	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355151	0.95854	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000535603	D;D;D	0.83335	-1.71;-1.71;-1.71	5.6	5.6	0.85130	Interferon-related developmental regulator, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70227	0.968;0.968	D	0.93859	0.7152	10	0.87932	D	0	-2.69	19.1888	0.93654	0.0:0.0:1.0:0.0	.	433;433	A4D0U1;O00458	.;IFRD1_HUMAN	Q	433;433;383	ENSP00000005558:R433Q;ENSP00000384477:R433Q;ENSP00000439188:R383Q	ENSP00000005558:R433Q	R	+	2	0	IFRD1	111902752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.880000	0.92407	2.636000	0.89361	0.462000	0.41574	CGA		0.318	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
TMEM168	64418	broad.mit.edu	37	7	112413051	112413051	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:112413051G>T	ENST00000312814.6	-	4	1891	c.1331C>A	c.(1330-1332)tCt>tAt	p.S444Y	TMEM168_ENST00000454074.1_Missense_Mutation_p.S444Y|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	444						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.S444Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CATGCCAGTAGACCTCAAATT	0.398																																					p.S444Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1331A	7						.						79.0	76.0	77.0					7																	112413051		2203	4300	6503	112200287	SO:0001583	missense	64418	exon4				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1331C>A	7.37:g.112413051G>T	ENSP00000323068:p.Ser444Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112200287	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833901	0.91036	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743;ENST00000441474	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78450	-0.2199	9	0.87932	D	0	-13.9506	20.3206	0.98668	0.0:0.0:1.0:0.0	.	444	Q9H0V1	TM168_HUMAN	Y	444;444;60;60;96	.	ENSP00000323068:S444Y	S	-	2	0	TMEM168	112200287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TCT		0.398	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
TMEM168	64418	broad.mit.edu	37	7	112424871	112424871	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:112424871A>C	ENST00000312814.6	-	2	570	c.10T>G	c.(10-12)Tca>Gca	p.S4A	TMEM168_ENST00000454074.1_Missense_Mutation_p.S4A	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	4						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.S4A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAACGCAGTGATTTACACATG	0.383																																					p.S4A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10G	7						.						55.0	49.0	51.0					7																	112424871		2203	4300	6503	112212107	SO:0001583	missense	64418	exon2				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.10T>G	7.37:g.112424871A>C	ENSP00000323068:p.Ser4Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112212107	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902409	0.52227	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.2	5.2	0.72013	.	0.084481	0.49916	D	0.000130	T	0.48537	0.1505	L	0.44542	1.39	0.80722	D	1	P	0.36733	0.567	B	0.32724	0.151	T	0.48115	-0.9063	9	0.32370	T	0.25	-21.5454	15.362	0.74483	1.0:0.0:0.0:0.0	.	4	Q9H0V1	TM168_HUMAN	A	4	.	ENSP00000323068:S4A	S	-	1	0	TMEM168	112212107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.871000	0.75531	2.078000	0.62432	0.528000	0.53228	TCA		0.383	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
PPP1R3A	5506	broad.mit.edu	37	7	113519669	113519669	+	Missense_Mutation	SNP	G	G	A	rs142774244		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:113519669G>A	ENST00000284601.3	-	4	1546	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	493					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.T493M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACATGCCGACGTATCTGAATG	0.338																																					p.T493M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1478T	7						.						64.0	61.0	62.0					7																	113519669		2203	4299	6502	113306905	SO:0001583	missense	5506	exon4			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1478C>T	7.37:g.113519669G>A	ENSP00000284601:p.Thr493Met	Somatic		Capture	Illumina HiSeq	Phase_I	113306905	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287544	0.23478	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.34275	2.33;1.37	5.94	-3.1	0.05315	.	1.582510	0.04291	N	0.345584	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	P	0.36027	0.533	B	0.20767	0.031	T	0.12293	-1.0553	10	0.45353	T	0.12	-1.9938	5.6682	0.17707	0.292:0.0:0.4561:0.2519	.	493	Q16821	PPR3A_HUMAN	M	493;172	ENSP00000284601:T493M;ENSP00000401278:T172M	ENSP00000284601:T493M	T	-	2	0	PPP1R3A	113306905	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.071000	0.11505	-0.777000	0.04572	-2.093000	0.00369	ACG		0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
FOXP2	93986	broad.mit.edu	37	7	114271689	114271689	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:114271689G>A	ENST00000393494.2	+	6	983	c.704G>A	c.(703-705)aGc>aAc	p.S235N	FOXP2_ENST00000393489.3_Missense_Mutation_p.S143N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S143N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S252N|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Missense_Mutation_p.S235N|FOXP2_ENST00000393500.3_Missense_Mutation_p.S160N|FOXP2_ENST00000393498.2_Missense_Mutation_p.S214N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S260N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S259N|FOXP2_ENST00000378237.3_Missense_Mutation_p.S235N|FOXP2_ENST00000360232.4_Missense_Mutation_p.S235N			O15409	FOXP2_HUMAN	forkhead box P2	235	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S260N(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTGCTCAGCCTTCAGCGT	0.547																																					p.S234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	7						.						79.0	61.0	67.0					7																	114271689		2203	4300	6503	114058925	SO:0001583	missense	93986	exon6			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.704G>A	7.37:g.114271689G>A	ENSP00000377132:p.Ser235Asn	Somatic		Capture	Illumina HiSeq	Phase_I	114058925	NM_001172766	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114318	0.20795	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;D	0.90504	0.03;1.3;1.9;1.3;1.3;2.41;1.9;1.3;0.4;-2.68	5.91	4.93	0.64822	.	0.440276	0.27841	N	0.017633	T	0.74191	0.3684	N	0.05124	-0.11	0.31430	N	0.673292	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.65290	-0.6204	10	0.12103	T	0.63	.	3.927	0.09269	0.318:0.0:0.682:0.0	.	234;252;143;235;259;235;260	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	160;235;260;252;235;212;235;143;235;241;92;259;143	ENSP00000377137:S160N;ENSP00000377132:S235N;ENSP00000386200:S260N;ENSP00000385069:S252N;ENSP00000265436:S235N;ENSP00000367482:S235N;ENSP00000377129:S143N;ENSP00000353367:S235N;ENSP00000375084:S259N;ENSP00000377130:S143N	ENSP00000265436:S235N	S	+	2	0	FOXP2	114058925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.369000	0.59511	2.804000	0.96469	0.650000	0.86243	AGC		0.547	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
THSD7A	221981	broad.mit.edu	37	7	11632924	11632924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:11632924C>A	ENST00000423059.4	-	3	1479	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	410	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E410*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AAACAGGGTTCTTTTTCTTCA	0.478										HNSCC(18;0.044)																											p.E410X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1228T	7						.						90.0	86.0	87.0					7																	11632924		1909	4134	6043	11599449	SO:0001587	stop_gained	221981	exon3				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1228G>T	7.37:g.11632924C>A	ENSP00000406482:p.Glu410*	Somatic		Capture	Illumina HiSeq	Phase_I	11599449	NM_015204		Nonsense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	37	6.104989	0.97286	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.41	4.53	0.55603	.	0.090564	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.2816	0.66216	0.0:0.9277:0.0:0.0723	.	.	.	.	X	410	.	ENSP00000262042:E410X	E	-	1	0	THSD7A	11599449	1.000000	0.71417	0.210000	0.23637	0.012000	0.07955	7.487000	0.81328	1.286000	0.44565	-0.291000	0.09656	GAA		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
FOXP2	93986	broad.mit.edu	37	7	114293982	114293982	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:114293982T>G	ENST00000393494.2	+	10	1463	c.1184T>G	c.(1183-1185)cTt>cGt	p.L395R	FOXP2_ENST00000393489.3_Splice_Site_p.L303R|FOXP2_ENST00000393491.3_Splice_Site_p.L303R|FOXP2_ENST00000403559.4_Splice_Site_p.L412R|FOXP2_ENST00000350908.4_Splice_Site_p.L395R|FOXP2_ENST00000393500.3_Splice_Site_p.L320R|FOXP2_ENST00000393498.2_Splice_Site_p.L374R|FOXP2_ENST00000408937.3_Splice_Site_p.L420R|FOXP2_ENST00000390668.3_Splice_Site_p.L419R|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000360232.4_Splice_Site_p.L395R			O15409	FOXP2_HUMAN	forkhead box P2	395	Leucine-zipper.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L420R(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCTTAACAGCTTTCTAAAGAA	0.408																																					p.L394R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1181G	7						.						132.0	125.0	127.0					7																	114293982		2203	4300	6503	114081218	SO:0001630	splice_region_variant	93986	exon10			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1183-1T>G	7.37:g.114293982T>G		Somatic		Capture	Illumina HiSeq	Phase_I	114081218	NM_001172766	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061498	0.76187	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.80616	2.505	0.80722	D	1	D;D;B;D;D;D;D	0.89917	0.995;0.995;0.094;1.0;1.0;0.995;0.997	D;D;B;D;D;D;D	0.91635	0.979;0.986;0.012;0.999;0.999;0.979;0.994	T	0.55023	-0.8205	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	394;412;303;395;419;395;420	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	R	320;395;420;412;395;372;303;395;419;303	ENSP00000377137:L320R;ENSP00000377132:L395R;ENSP00000386200:L420R;ENSP00000385069:L412R;ENSP00000265436:L395R;ENSP00000377129:L303R;ENSP00000353367:L395R;ENSP00000375084:L419R;ENSP00000377130:L303R	ENSP00000265436:L395R	L	+	2	0	FOXP2	114081218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	CTT		0.408	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Missense_Mutation
MET	4233	broad.mit.edu	37	7	116339746	116339746	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:116339746C>A	ENST00000318493.6	+	2	795	c.608C>A	c.(607-609)tCt>tAt	p.S203Y	MET_ENST00000436117.2_Missense_Mutation_p.S203Y|MET_ENST00000397752.3_Missense_Mutation_p.S203Y			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S203Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACCATAAATTCTTCTTATTTC	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.S203Y			Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608A	7						.						137.0	134.0	135.0					7																	116339746		1895	4114	6009	116126982	SO:0001583	missense	4233	exon2	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.608C>A	7.37:g.116339746C>A	ENSP00000317272:p.Ser203Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	116126982	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542143	0.45280	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.05025	3.51;3.51;3.51	6.17	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.564469	0.20276	N	0.095545	T	0.26810	0.0656	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;P;D;D	0.65815	0.995;0.961;0.961;0.961;0.961;0.961;0.961;0.961;0.964;0.889;0.924;0.976;0.976	D;P;D;P;P;P;P;P;P;P;P;P;P	0.65573	0.913;0.866;0.936;0.864;0.864;0.864;0.864;0.821;0.816;0.786;0.821;0.828;0.828	T	0.01675	-1.1298	10	0.66056	D	0.02	.	10.4604	0.44577	0.2716:0.5975:0.1309:0.0	.	203;203;203;203;203;203;203;203;203;203;203;203;203	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	Y	203	ENSP00000380860:S203Y;ENSP00000317272:S203Y;ENSP00000410980:S203Y	ENSP00000317272:S203Y	S	+	2	0	MET	116126982	0.988000	0.35896	0.998000	0.56505	0.938000	0.57974	2.315000	0.43752	0.879000	0.35944	0.655000	0.94253	TCT		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
MET	4233	broad.mit.edu	37	7	116397528	116397528	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:116397528T>C	ENST00000318493.6	+	7	2087	c.1900T>C	c.(1900-1902)Ttc>Ctc	p.F634L	MET_ENST00000436117.2_Missense_Mutation_p.F634L|MET_ENST00000397752.3_Missense_Mutation_p.F634L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F634L(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAATAAGCATTTCAATATGTC	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.F634L			Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1900C	7						.						83.0	80.0	81.0					7																	116397528		1841	4097	5938	116184764	SO:0001583	missense	4233	exon7	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1900T>C	7.37:g.116397528T>C	ENSP00000317272:p.Phe634Leu	Somatic		Capture	Illumina HiSeq	Phase_I	116184764	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038685	0.35989	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.75260	-0.92;-0.92;-0.92	5.4	4.25	0.50352	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.138673	0.64402	D	0.000003	T	0.58032	0.2094	N	0.25245	0.725	0.80722	D	1	B;B;B;B;B;B;B;B	0.14438	0.01;0.001;0.008;0.002;0.005;0.005;0.004;0.004	B;B;B;B;B;B;B;B	0.20955	0.015;0.008;0.015;0.008;0.032;0.032;0.019;0.014	T	0.52290	-0.8595	10	0.16420	T	0.52	.	10.947	0.47306	0.0:0.0736:0.0:0.9264	.	634;634;634;634;606;634;634;634	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	L	634	ENSP00000380860:F634L;ENSP00000317272:F634L;ENSP00000410980:F634L	ENSP00000317272:F634L	F	+	1	0	MET	116184764	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	3.646000	0.54396	2.175000	0.68902	0.477000	0.44152	TTC		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
ASZ1	136991	broad.mit.edu	37	7	117067501	117067501	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117067501G>A	ENST00000284629.2	-	1	76	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.A5V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCCTCGCAGCGCGCTCGCCGC	0.687											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A5V												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C14T	7						.						45.0	43.0	44.0					7																	117067501		2202	4294	6496	116854737	SO:0001583	missense	136991	exon1			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.14C>T	7.37:g.117067501G>A	ENSP00000284629:p.Ala5Val	Somatic	1478	Capture	Illumina HiSeq	Phase_I	116854737	NM_130768		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848708	0.32699	.	.	ENSG00000154438	ENST00000284629	T	0.67698	-0.28	5.14	-4.53	0.03462	.	2.531510	0.01333	N	0.011300	T	0.43853	0.1266	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12863	-1.0531	10	0.35671	T	0.21	.	2.1834	0.03880	0.2722:0.3149:0.3058:0.1072	.	5;5	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	V	5	ENSP00000284629:A5V	ENSP00000284629:A5V	A	-	2	0	ASZ1	116854737	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.680000	0.05197	-1.054000	0.03214	-0.809000	0.03173	GCG		0.687	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
CFTR	1080	broad.mit.edu	37	7	117199585	117199585	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117199585G>T	ENST00000003084.6	+	11	1592	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	CFTR_ENST00000454343.1_Missense_Mutation_p.R426I|AC000111.3_ENST00000441019.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	487	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.R487I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CACAGTGGAAGAATTTCATTC	0.368									Cystic Fibrosis																												p.R487I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460T	7						.						117.0	119.0	118.0					7																	117199585		2203	4300	6503	116986821	SO:0001583	missense	1080	exon11	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1460G>T	7.37:g.117199585G>T	ENSP00000003084:p.Arg487Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116986821	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087270	0.94100	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94138	-3.36;-3.36;-3.36	5.48	5.48	0.80851	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95693	0.8742	10	0.72032	D	0.01	-26.2907	19.7112	0.96096	0.0:0.0:1.0:0.0	.	487	P13569	CFTR_HUMAN	I	487;426;457	ENSP00000003084:R487I;ENSP00000403677:R426I;ENSP00000389119:R457I	ENSP00000003084:R487I	R	+	2	0	CFTR	116986821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.336000	0.96533	2.722000	0.93159	0.655000	0.94253	AGA		0.368	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CFTR	1080	broad.mit.edu	37	7	117267712	117267712	+	Missense_Mutation	SNP	A	A	G	rs397508587		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117267712A>G	ENST00000003084.6	+	22	3737	c.3605A>G	c.(3604-3606)gAc>gGc	p.D1202G	CFTR_ENST00000454343.1_Missense_Mutation_p.D1141G|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1202					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.D1202G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAGAAAGATGACATCTGGCCC	0.408									Cystic Fibrosis																												p.D1202G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3605G	7	GRCh37	CD920849	CFTR	D		.						85.0	77.0	79.0					7																	117267712		2203	4300	6503	117054948	SO:0001583	missense	1080	exon22	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3605A>G	7.37:g.117267712A>G	ENSP00000003084:p.Asp1202Gly	Somatic		Capture	Illumina HiSeq	Phase_I	117054948	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.04|14.04	2.415583|2.415583	0.42817|0.42817	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.92699|.	-3.02;-2.84;-3.09|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.684792|.	0.16432|.	N|.	0.214680|.	T|T	0.49389|0.49389	0.1554|0.1554	L|L	0.37507|0.37507	1.11|1.11	0.31337|0.31337	N|N	0.684145|0.684145	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.53457|0.53457	-0.8436|-0.8436	10|5	0.34782|.	T|.	0.22|.	-5.2812|-5.2812	16.5602|16.5602	0.84551|0.84551	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1202|.	P13569|.	CFTR_HUMAN|.	G|A	1202;1141;1172|144	ENSP00000003084:D1202G;ENSP00000403677:D1141G;ENSP00000389119:D1172G|.	ENSP00000003084:D1202G|.	D|T	+|+	2|1	0|0	CFTR|CFTR	117054948|117054948	0.826000|0.826000	0.29277|0.29277	1.000000|1.000000	0.80357|0.80357	0.789000|0.789000	0.44602|0.44602	3.007000|3.007000	0.49536|0.49536	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	GAC|ACA		0.408	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CTTNBP2	83992	broad.mit.edu	37	7	117407167	117407167	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117407167G>A	ENST00000160373.3	-	9	2933	c.2842C>T	c.(2842-2844)Cgg>Tgg	p.R948W		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	948					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R948W(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCACAGTCCGATTGCACTTG	0.453																																					p.R948W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2842T	7						.						183.0	152.0	163.0					7																	117407167		2203	4300	6503	117194403	SO:0001583	missense	83992	exon9				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2842C>T	7.37:g.117407167G>A	ENSP00000160373:p.Arg948Trp	Somatic		Capture	Illumina HiSeq	Phase_I	117194403	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.394309|4.394309	0.83011|0.83011	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.54479|.	0.57|.	5.49|5.49	3.65|3.65	0.41850|0.41850	Ankyrin repeat-containing domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68659|0.68659	0.3025|0.3025	L|L	0.58810|0.58810	1.83|1.83	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.66428|0.66428	-0.5926|-0.5926	10|5	0.66056|.	D|.	0.02|.	-1.0236|-1.0236	14.8915|14.8915	0.70611|0.70611	0.0:0.0:0.7378:0.2622|0.0:0.0:0.7378:0.2622	.|.	948|.	Q8WZ74|.	CTTB2_HUMAN|.	W|L	948|435	ENSP00000160373:R948W|.	ENSP00000160373:R948W|.	R|S	-|-	1|2	2|0	CTTNBP2|CTTNBP2	117194403|117194403	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	6.227000|6.227000	0.72282|0.72282	0.760000|0.760000	0.33108|0.33108	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117432760	117432760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117432760G>A	ENST00000160373.3	-	4	581	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	164					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R164C(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTTGCCACGCTCTTCCTCA	0.527																																					p.R164C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C490T	7						.						89.0	83.0	85.0					7																	117432760		2203	4300	6503	117219996	SO:0001583	missense	83992	exon4				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.490C>T	7.37:g.117432760G>A	ENSP00000160373:p.Arg164Cys	Somatic		Capture	Illumina HiSeq	Phase_I	117219996	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767420	0.69878	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.49720	0.77;0.77;0.77	5.77	4.88	0.63580	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72527	-0.4266	10	0.87932	D	0	-0.2737	16.7222	0.85413	0.0:0.0:0.8699:0.1301	.	164	Q8WZ74	CTTB2_HUMAN	C	164;122;122	ENSP00000160373:R164C;ENSP00000396014:R122C;ENSP00000405831:R122C	ENSP00000160373:R164C	R	-	1	0	CTTNBP2	117219996	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	5.309000	0.65774	1.556000	0.49512	0.650000	0.86243	CGT		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
NAA38	84316	broad.mit.edu	37	7	117825737	117825737	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117825737A>G	ENST00000249299.2	+	2	253	c.61A>G	c.(61-63)Aga>Gga	p.R21G	NAA38_ENST00000422760.1_5'UTR|NAA38_ENST00000424702.1_Missense_Mutation_p.R21G	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	61					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.R21G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATCAGATGGGAGAATGATTGT	0.373																																					p.R21G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61G	7						.						302.0	258.0	273.0					7																	117825737		2203	4300	6503	117612973	SO:0001583	missense	51691	exon2				CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.61A>G	7.37:g.117825737A>G	ENSP00000249299:p.Arg21Gly	Somatic		Capture	Illumina HiSeq	Phase_I	117612973	NM_016200	Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	37	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692628	0.68271	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000411938	T;T;T	0.48836	0.8;0.8;0.8	5.61	4.43	0.53597	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71991	-0.4425	9	0.87932	D	0	-22.9807	11.9875	0.53155	0.726:0.274:0.0:0.0	.	21	O95777	NAA38_HUMAN	G	21;21;32	ENSP00000249299:R21G;ENSP00000395263:R21G;ENSP00000408267:R32G	ENSP00000249299:R21G	R	+	1	2	NAA38	117612973	0.999000	0.42202	1.000000	0.80357	0.797000	0.45037	4.016000	0.57159	0.927000	0.37143	0.454000	0.30748	AGA		0.373	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356	
ANKRD7	56311	broad.mit.edu	37	7	117874888	117874888	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117874888A>C	ENST00000265224.4	+	3	583	c.428A>C	c.(427-429)aAa>aCa	p.K143T	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.K163T|ANKRD7_ENST00000417525.1_Missense_Mutation_p.K90T|ANKRD7_ENST00000433239.1_Missense_Mutation_p.K90T	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	143					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.K163T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTAGTTGAAAAACTGCTTGAA	0.333																																					p.K143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A428C	7						.						167.0	148.0	154.0					7																	117874888		1841	4093	5934	117662124	SO:0001583	missense	56311	exon3			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.428A>C	7.37:g.117874888A>C	ENSP00000265224:p.Lys143Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117662124	NM_019644	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549797	0.45383	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.06	3.89	0.44902	Ankyrin repeat-containing domain (3);	0.256847	0.27262	N	0.020174	T	0.59074	0.2167	L	0.32530	0.975	0.09310	N	1	P	0.45986	0.87	P	0.53360	0.724	T	0.48468	-0.9033	10	0.22706	T	0.39	-14.6777	9.9984	0.41913	0.7316:0.0:0.0:0.2684	.	143	Q92527	ANKR7_HUMAN	T	163;143;90;90	ENSP00000349612:K163T;ENSP00000265224:K143T;ENSP00000395595:K90T;ENSP00000388473:K90T	ENSP00000265224:K143T	K	+	2	0	ANKRD7	117662124	0.008000	0.16893	0.002000	0.10522	0.001000	0.01503	2.176000	0.42500	0.853000	0.35312	0.533000	0.62120	AAA		0.333	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
ANKRD7	56311	broad.mit.edu	37	7	117876200	117876200	+	Splice_Site	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:117876200A>C	ENST00000265224.4	+	4	729	c.574A>C	c.(574-576)Aga>Cga	p.R192R	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Splice_Site_p.R212R|ANKRD7_ENST00000417525.1_Splice_Site_p.R139R|ANKRD7_ENST00000433239.1_Splice_Site_p.R139R	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	192					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.R212R(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAATTATCAAAGGTATAATTA	0.353																																					p.R192R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A574C	7						.						52.0	55.0	54.0					7																	117876200		1831	4079	5910	117663436	SO:0001630	splice_region_variant	56311	exon4			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.575+1A>C	7.37:g.117876200A>C		Somatic		Capture	Illumina HiSeq	Phase_I	117663436	NM_019644	B4DYF5|Q96QN1|Q9UDM3	Silent	SNP	ENST00000265224.4	37	CCDS43638.1																																																																																				0.353	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	Silent
KCND2	3751	broad.mit.edu	37	7	120385947	120385947	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:120385947C>T	ENST00000331113.4	+	5	2546	c.1581C>T	c.(1579-1581)agC>agT	p.S527S	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	527					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.S527S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAGTCACCAGCACCTGCTGTT	0.443																																					p.S527S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	7						.						151.0	126.0	134.0					7																	120385947		2203	4300	6503	120173183	SO:0001819	synonymous_variant	3751	exon5			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1581C>T	7.37:g.120385947C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120173183	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291228	0.23564	.	.	ENSG00000184408	ENST00000425288	.	.	.	6.06	5.18	0.71444	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62105	-0.6924	4	.	.	.	.	11.2798	0.49188	0.0:0.8613:0.0:0.1387	.	.	.	.	V	113	.	.	A	+	2	0	KCND2	120173183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.030000	0.41108	1.565000	0.49641	0.655000	0.94253	GCA		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
CPED1	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	rs148996529	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	735						endoplasmic reticulum (GO:0005783)		p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468																																					p.S735L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2204T	7						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	154.0	143.0	146.0		2204,2204	5.3	1.0	7	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C7orf58	NM_001105533.1,NM_024913.4	145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	735/784,735/1027	120884286	2,13004	2203	4300	6503	120671522	SO:0001583	missense	79974	exon17				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2204C>T	7.37:g.120884286C>T	ENSP00000309772:p.Ser735Leu	Somatic		Capture	Illumina HiSeq	Phase_I	120671522	NM_001105533	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599294	0.87055	0.0	2.33E-4	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.26810	2.12;1.71;1.73	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.996	T	0.44498	-0.9324	10	0.51188	T	0.08	.	18.9585	0.92670	0.0:1.0:0.0:0.0	.	515;735;735	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	735;735;515	ENSP00000309772:S735L;ENSP00000406122:S735L;ENSP00000415573:S515L	ENSP00000309772:S735L	S	+	2	0	C7orf58	120671522	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.799000	0.75160	2.472000	0.83506	0.460000	0.39030	TCG		0.468	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
CPED1	79974	broad.mit.edu	37	7	120907276	120907276	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:120907276T>G	ENST00000310396.5	+	21	3108	c.2641T>G	c.(2641-2643)Tta>Gta	p.L881V		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	881						endoplasmic reticulum (GO:0005783)		p.L881V(1)									CAGGGAAAATTTACTCAATAT	0.313																																					p.L881V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2641G	7						.						57.0	55.0	56.0					7																	120907276		2196	4295	6491	120694512	SO:0001583	missense	79974	exon21				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2641T>G	7.37:g.120907276T>G	ENSP00000309772:p.Leu881Val	Somatic		Capture	Illumina HiSeq	Phase_I	120694512	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330233	0.60743	.	.	ENSG00000106034	ENST00000310396	T	0.18016	2.24	5.78	3.38	0.38709	.	0.184221	0.34046	N	0.004311	T	0.34513	0.0900	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.04593	-1.0940	10	0.66056	D	0.02	-11.2037	5.165	0.15081	0.0:0.1912:0.1519:0.6569	.	881	A4D0V7	CG058_HUMAN	V	881	ENSP00000309772:L881V	ENSP00000309772:L881V	L	+	1	2	C7orf58	120694512	0.996000	0.38824	0.999000	0.59377	0.967000	0.64934	1.597000	0.36729	0.444000	0.26612	0.459000	0.35465	TTA		0.313	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
WNT16	51384	broad.mit.edu	37	7	120979208	120979208	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:120979208C>A	ENST00000222462.2	+	4	1197	c.907C>A	c.(907-909)Cca>Aca	p.P303T	WNT16_ENST00000361301.2_Missense_Mutation_p.P293T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	303					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.P303T(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					ACTGGGAATCCCAGGGACACA	0.473																																					p.P293T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877A	7						.						107.0	102.0	104.0					7																	120979208		2203	4300	6503	120766444	SO:0001583	missense	51384	exon4			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.907C>A	7.37:g.120979208C>A	ENSP00000222462:p.Pro303Thr	Somatic		Capture	Illumina HiSeq	Phase_I	120766444	NM_016087	Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957202	0.34565	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.75050	-0.9;-0.9	5.81	5.81	0.92471	.	0.142024	0.64402	D	0.000003	T	0.67505	0.2900	L	0.42245	1.32	0.41786	D	0.989847	B;B	0.22003	0.038;0.063	B;B	0.16722	0.016;0.016	T	0.64597	-0.6370	10	0.52906	T	0.07	.	13.2996	0.60317	0.0:0.9278:0.0:0.0722	.	303;293	Q9UBV4;E9PH60	WNT16_HUMAN;.	T	293;303	ENSP00000355065:P293T;ENSP00000222462:P303T	ENSP00000222462:P303T	P	+	1	0	WNT16	120766444	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.606000	0.46291	2.756000	0.94617	0.655000	0.94253	CCA		0.473	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168	
PTPRZ1	5803	broad.mit.edu	37	7	121652613	121652613	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121652613G>T	ENST00000393386.2	+	12	3924	c.3513G>T	c.(3511-3513)gaG>gaT	p.E1171D	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1171					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1171D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATTTTATGAGACCTCAGCTT	0.438																																					p.E1171D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3513T	7						.						209.0	205.0	206.0					7																	121652613		2203	4300	6503	121439849	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3513G>T	7.37:g.121652613G>T	ENSP00000377047:p.Glu1171Asp	Somatic		Capture	Illumina HiSeq	Phase_I	121439849	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979113	0.53827	.	.	ENSG00000106278	ENST00000393386	T	0.54675	0.56	5.51	2.65	0.31530	.	0.159483	0.42682	N	0.000666	T	0.64583	0.2611	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.63395	-0.6647	10	0.72032	D	0.01	.	5.0761	0.14632	0.2902:0.1476:0.5622:0.0	.	1171	P23471	PTPRZ_HUMAN	D	1171	ENSP00000377047:E1171D	ENSP00000377047:E1171D	E	+	3	2	PTPRZ1	121439849	0.997000	0.39634	0.972000	0.41901	0.994000	0.84299	1.074000	0.30703	0.652000	0.30806	0.555000	0.69702	GAG		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
PTPRZ1	5803	broad.mit.edu	37	7	121653108	121653108	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121653108T>G	ENST00000393386.2	+	12	4419	c.4008T>G	c.(4006-4008)atT>atG	p.I1336M	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1336					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I1336M(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGATGAAATTTTAACCTCCA	0.353																																					p.I1336M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4008G	7						.						106.0	109.0	108.0					7																	121653108		2203	4300	6503	121440344	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4008T>G	7.37:g.121653108T>G	ENSP00000377047:p.Ile1336Met	Somatic		Capture	Illumina HiSeq	Phase_I	121440344	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.215547	0.39102	.	.	ENSG00000106278	ENST00000393386	T	0.43688	0.94	5.62	0.344	0.16006	.	1.302670	0.05344	N	0.530734	T	0.30634	0.0771	L	0.36672	1.1	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.31586	-0.9938	10	0.72032	D	0.01	.	1.7081	0.02886	0.1351:0.1529:0.1409:0.5711	.	1336	P23471	PTPRZ_HUMAN	M	1336	ENSP00000377047:I1336M	ENSP00000377047:I1336M	I	+	3	3	PTPRZ1	121440344	0.000000	0.05858	0.000000	0.03702	0.326000	0.28443	0.293000	0.19029	-0.165000	0.10908	0.454000	0.30748	ATT		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
PTPRZ1	5803	broad.mit.edu	37	7	121659297	121659297	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121659297C>A	ENST00000393386.2	+	13	5374	c.4963C>A	c.(4963-4965)Ctt>Att	p.L1655I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L795I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1655					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1655I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTAGTGGTTCTTGTGGGTAT	0.403																																					p.L1655I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4963A	7						.						207.0	187.0	194.0					7																	121659297		2203	4300	6503	121446533	SO:0001583	missense	5803	exon13			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4963C>A	7.37:g.121659297C>A	ENSP00000377047:p.Leu1655Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121446533	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044040	0.75732	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.79554	0.59;-1.28	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000010	D	0.89008	0.6593	M	0.66939	2.045	0.53688	D	0.999974	D;B;D	0.89917	0.998;0.402;1.0	D;B;D	0.83275	0.996;0.298;0.996	D	0.89090	0.3482	10	0.52906	T	0.07	.	18.8029	0.92025	0.0:1.0:0.0:0.0	.	794;795;1655	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1655;795	ENSP00000377047:L1655I;ENSP00000410000:L795I	ENSP00000377047:L1655I	L	+	1	0	PTPRZ1	121446533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.470000	0.83445	0.484000	0.47621	CTT		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
AASS	10157	broad.mit.edu	37	7	121717991	121717991	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121717991T>G	ENST00000393376.1	-	22	2658	c.2563A>C	c.(2563-2565)Acg>Ccg	p.T855P	AASS_ENST00000417368.2_Missense_Mutation_p.T855P|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	855	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T855P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGATCAATCGTTTTATGTTCT	0.413																																					p.T855P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2563C	7						.						272.0	286.0	281.0					7																	121717991		2203	4300	6503	121505227	SO:0001583	missense	10157	exon23			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2563A>C	7.37:g.121717991T>G	ENSP00000377040:p.Thr855Pro	Somatic		Capture	Illumina HiSeq	Phase_I	121505227	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783222	0.31593	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.47177	0.85;0.85	5.56	5.56	0.83823	.	0.372233	0.32518	N	0.005984	T	0.62756	0.2454	M	0.85197	2.74	0.26355	N	0.977135	P	0.36660	0.564	P	0.50162	0.633	T	0.58691	-0.7592	10	0.26408	T	0.33	-10.8157	10.4738	0.44652	0.1821:0.0:0.0:0.8179	.	855	Q9UDR5	AASS_HUMAN	P	855	ENSP00000377040:T855P;ENSP00000403768:T855P	ENSP00000377040:T855P	T	-	1	0	AASS	121505227	1.000000	0.71417	0.132000	0.22025	0.962000	0.63368	2.950000	0.49081	2.113000	0.64589	0.477000	0.44152	ACG		0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
AASS	10157	broad.mit.edu	37	7	121721593	121721593	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121721593C>T	ENST00000393376.1	-	19	2336	c.2241G>A	c.(2239-2241)gcG>gcA	p.A747A	AASS_ENST00000417368.2_Silent_p.A747A|RNU7-154P_ENST00000516194.1_RNA|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	747	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.A747A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGGCAGGAAGCGCTTCTCTGT	0.388																																					p.A747A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2241A	7						.						111.0	118.0	116.0					7																	121721593		2203	4300	6503	121508829	SO:0001819	synonymous_variant	10157	exon20			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2241G>A	7.37:g.121721593C>T		Somatic		Capture	Illumina HiSeq	Phase_I	121508829	NM_005763	O95462	Silent	SNP	ENST00000393376.1	37	CCDS5783.1																																																																																				0.388	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
AASS	10157	broad.mit.edu	37	7	121753674	121753674	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121753674C>A	ENST00000393376.1	-	9	1239	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	AASS_ENST00000417368.2_Missense_Mutation_p.D382Y|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	382	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.D382Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATATGCTGGTCTGCATCATAC	0.363																																					p.D382Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144T	7						.						141.0	118.0	126.0					7																	121753674		2203	4300	6503	121540910	SO:0001583	missense	10157	exon10			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1144G>T	7.37:g.121753674C>A	ENSP00000377040:p.Asp382Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	121540910	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069465	0.76301	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.92	4.92	0.64577	Alanine dehydrogenase/PNT, C-terminal (1);	0.093191	0.64402	D	0.000001	T	0.75206	0.3818	M	0.68593	2.085	0.80722	D	1	P	0.52316	0.952	P	0.57960	0.83	T	0.77284	-0.2645	9	0.62326	D	0.03	-20.6014	18.6547	0.91448	0.0:1.0:0.0:0.0	.	382	Q9UDR5	AASS_HUMAN	Y	382	.	ENSP00000351834:D382Y	D	-	1	0	AASS	121540910	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.525000	0.60559	2.714000	0.92807	0.655000	0.94253	GAC		0.363	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
FEZF1	389549	broad.mit.edu	37	7	121944113	121944113	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121944113G>A	ENST00000442488.2	-	1	446	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.L127F|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.L127F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	127					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.L127F(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCGCCCTTGAGACTCAGTGCG	0.697																																					p.L127F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C379T	7						.						8.0	8.0	8.0					7																	121944113		2161	4216	6377	121731349	SO:0001583	missense	389549	exon1			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.379C>T	7.37:g.121944113G>A	ENSP00000411145:p.Leu127Phe	Somatic		Capture	Illumina HiSeq	Phase_I	121731349	NM_001024613	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951145	0.34471	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07908	3.19;3.32;3.15	4.56	4.56	0.56223	.	0.282074	0.36066	N	0.002819	T	0.08891	0.0220	L	0.36672	1.1	0.32110	N	0.589464	P;P	0.49090	0.868;0.919	B;P	0.46718	0.243;0.525	T	0.03249	-1.1056	10	0.10111	T	0.7	-26.1988	12.3629	0.55213	0.0857:0.0:0.9143:0.0	.	127;127	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	F	127	ENSP00000411145:L127F;ENSP00000332777:L127F;ENSP00000392727:L127F	ENSP00000332777:L127F	L	-	1	0	FEZF1	121731349	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.592000	0.36676	2.512000	0.84698	0.484000	0.47621	CTC		0.697	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
RNF133	168433	broad.mit.edu	37	7	122338676	122338676	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:122338676C>T	ENST00000340112.2	-	1	534	c.297G>A	c.(295-297)gaG>gaA	p.E99E	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	99	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E99E(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CAAGCCAGGTCTCTGAGTACT	0.448																																					p.E99E	Colon(198;1778 2057 7449 19869 45985)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G297A	7						.						160.0	170.0	167.0					7																	122338676		2203	4299	6502	122125912	SO:0001819	synonymous_variant	168433	exon1			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.297G>A	7.37:g.122338676C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122125912	NM_139175	A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	CCDS5784.1																																																																																				0.448	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175	
IQUB	154865	broad.mit.edu	37	7	123101571	123101571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:123101571G>T	ENST00000466202.1	-	11	2423	c.1847C>A	c.(1846-1848)tCa>tAa	p.S616*	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Nonsense_Mutation_p.S616*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	616					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.S616*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGGTGGATGATACAGAAAA	0.368																																					p.S616X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1847A	7						.						72.0	70.0	70.0					7																	123101571		2203	4299	6502	122888807	SO:0001587	stop_gained	154865	exon11			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1847C>A	7.37:g.123101571G>T	ENSP00000417769:p.Ser616*	Somatic		Capture	Illumina HiSeq	Phase_I	122888807	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753972	0.89843	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	.	.	.	5.94	5.06	0.68205	.	0.467791	0.25183	N	0.032514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1755	0.72907	0.0675:0.0:0.9325:0.0	.	.	.	.	X	616	.	ENSP00000324882:S616X	S	-	2	0	IQUB	122888807	0.343000	0.24818	0.011000	0.14972	0.006000	0.05464	2.794000	0.47853	1.524000	0.49035	-0.152000	0.13540	TCA		0.368	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
IQUB	154865	broad.mit.edu	37	7	123152343	123152343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:123152343C>A	ENST00000466202.1	-	2	628	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E18*|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E18*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	18					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.E18*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCACTCTCTTCTGTTGAATTG	0.353																																					p.E18X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G52T	7						.						106.0	102.0	103.0					7																	123152343		2203	4300	6503	122939579	SO:0001587	stop_gained	154865	exon2			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.52G>T	7.37:g.123152343C>A	ENSP00000417769:p.Glu18*	Somatic		Capture	Illumina HiSeq	Phase_I	122939579	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196474	0.58126	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	4.97	1.17	0.20885	.	1.110370	0.06908	N	0.807207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.6938	0.23187	0.0:0.6183:0.0:0.3817	.	.	.	.	X	18	.	ENSP00000324882:E18X	E	-	1	0	IQUB	122939579	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.269000	0.18589	0.386000	0.24997	0.557000	0.71058	GAA		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
WASL	8976	broad.mit.edu	37	7	123344705	123344705	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:123344705C>A	ENST00000223023.4	-	5	775	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	148					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.R148I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGATCTCGTCTTTTCTCTGT	0.254																																					p.R148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443T	7						.						19.0	20.0	20.0					7																	123344705		2188	4242	6430	123131941	SO:0001583	missense	8976	exon5			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.443G>T	7.37:g.123344705C>A	ENSP00000223023:p.Arg148Ile	Somatic		Capture	Illumina HiSeq	Phase_I	123131941	NM_003941	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764165	0.49574	.	.	ENSG00000106299	ENST00000223023	D	0.99751	-6.63	5.54	4.66	0.58398	Pleckstrin homology-type (1);	0.254345	0.44902	D	0.000402	D	0.98909	0.9630	L	0.58810	1.83	0.54753	D	0.99998	B	0.02656	0.0	B	0.04013	0.001	D	0.98900	1.0776	10	0.62326	D	0.03	-16.1456	7.5574	0.27833	0.1338:0.7264:0.0:0.1398	.	148	O00401	WASL_HUMAN	I	148	ENSP00000223023:R148I	ENSP00000223023:R148I	R	-	2	0	WASL	123131941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.588000	0.36633	1.459000	0.47892	0.655000	0.94253	AGA		0.254	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
WASL	8976	broad.mit.edu	37	7	123346796	123346796	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:123346796C>A	ENST00000223023.4	-	3	669	c.337G>T	c.(337-339)Gat>Tat	p.D113Y		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	113	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.D113Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACTTACATCTCCAGCAAAG	0.289																																					p.D113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	7						.						46.0	50.0	49.0					7																	123346796		2198	4275	6473	123134032	SO:0001583	missense	8976	exon3			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.337G>T	7.37:g.123346796C>A	ENSP00000223023:p.Asp113Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123134032	NM_003941	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667911	0.88348	.	.	ENSG00000106299	ENST00000223023	D	0.99637	-6.29	5.72	5.72	0.89469	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.98853	1.0759	10	0.87932	D	0	-16.1689	20.2406	0.98372	0.0:1.0:0.0:0.0	.	113	O00401	WASL_HUMAN	Y	113	ENSP00000223023:D113Y	ENSP00000223023:D113Y	D	-	1	0	WASL	123134032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.217000	0.77982	2.857000	0.98124	0.650000	0.86243	GAT		0.289	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
GPR37	2861	broad.mit.edu	37	7	124404409	124404409	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:124404409C>T	ENST00000303921.2	-	1	1272	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	208					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.E208K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCCACCCTTCGTGCCCCGCC	0.637																																					p.E208K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	7						.						38.0	43.0	41.0					7																	124404409		2203	4299	6502	124191645	SO:0001583	missense	2861	exon1				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.622G>A	7.37:g.124404409C>T	ENSP00000306449:p.Glu208Lys	Somatic		Capture	Illumina HiSeq	Phase_I	124191645	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428301	0.43122	.	.	ENSG00000170775	ENST00000303921	T	0.72282	-0.64	5.4	4.45	0.53987	.	0.254662	0.42294	D	0.000730	T	0.51873	0.1700	L	0.36672	1.1	0.28591	N	0.909657	P	0.35745	0.518	B	0.20184	0.028	T	0.52881	-0.8516	10	0.39692	T	0.17	-16.7605	8.2394	0.31652	0.0:0.8924:0.0:0.1076	.	208	O15354	GPR37_HUMAN	K	208	ENSP00000306449:E208K	ENSP00000306449:E208K	E	-	1	0	GPR37	124191645	0.998000	0.40836	1.000000	0.80357	0.383000	0.30230	2.257000	0.43240	2.824000	0.97209	0.650000	0.86243	GAA		0.637	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
GRM8	2918	broad.mit.edu	37	7	126173186	126173186	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:126173186A>C	ENST00000339582.2	-	9	3058	c.2250T>G	c.(2248-2250)atT>atG	p.I750M	GRM8_ENST00000444921.2_Missense_Mutation_p.I750M|GRM8_ENST00000358373.3_Missense_Mutation_p.I750M|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	750					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I750M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAAGTGAACAAATGAGTGAGA	0.458										HNSCC(24;0.065)																											p.I750M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2250G	7						.						126.0	109.0	115.0					7																	126173186		2203	4300	6503	125960422	SO:0001583	missense	2918	exon9				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2250T>G	7.37:g.126173186A>C	ENSP00000344173:p.Ile750Met	Somatic		Capture	Illumina HiSeq	Phase_I	125960422	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326844	0.41197	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88741	-2.42;-2.42;-2.42	5.61	4.46	0.54185	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	L	0.43152	1.355	0.80722	D	1	D;P	0.76494	0.999;0.771	D;P	0.83275	0.996;0.574	D	0.87152	0.2209	10	0.22706	T	0.39	.	10.5192	0.44910	0.9246:0.0:0.0754:0.0	.	750;750	O00222-2;O00222	.;GRM8_HUMAN	M	750	ENSP00000344173:I750M;ENSP00000409790:I750M;ENSP00000351142:I750M	ENSP00000344173:I750M	I	-	3	3	GRM8	125960422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	0.977000	0.38444	0.533000	0.62120	ATT		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126542657	126542657	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:126542657C>A	ENST00000339582.2	-	6	1903	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	GRM8_ENST00000405249.1_Missense_Mutation_p.E365D|GRM8_ENST00000444921.2_Missense_Mutation_p.E365D|GRM8_ENST00000358373.3_Missense_Mutation_p.E365D|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	365					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.E365D(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGCCAAAATTCTCCTCCCAGA	0.383										HNSCC(24;0.065)																											p.E365D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1095T	7						.						89.0	88.0	88.0					7																	126542657		2203	4300	6503	126329893	SO:0001583	missense	2918	exon6				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1095G>T	7.37:g.126542657C>A	ENSP00000344173:p.Glu365Asp	Somatic		Capture	Illumina HiSeq	Phase_I	126329893	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364210	0.24684	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.88	4.88	0.63580	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	N	0.16037	0.36	0.58432	D	0.999994	B;P;B	0.49783	0.004;0.928;0.002	B;P;B	0.50136	0.011;0.632;0.012	T	0.72937	-0.4140	10	0.06494	T	0.89	.	10.6422	0.45600	0.0:0.9121:0.0:0.0879	.	365;365;365	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	D	365	ENSP00000344173:E365D;ENSP00000409790:E365D;ENSP00000351142:E365D;ENSP00000385731:E365D	ENSP00000344173:E365D	E	-	3	2	GRM8	126329893	0.967000	0.33354	1.000000	0.80357	0.956000	0.61745	0.178000	0.16820	2.251000	0.74343	0.511000	0.50034	GAG		0.383	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126883170	126883170	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:126883170C>A	ENST00000339582.2	-	2	897	c.89G>T	c.(88-90)aGa>aTa	p.R30I	GRM8_ENST00000405249.1_Missense_Mutation_p.R30I|GRM8_ENST00000444921.2_Missense_Mutation_p.R30I|GRM8_ENST00000358373.3_Missense_Mutation_p.R30I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	30					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R30I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTGTGAGTTCTTTGCATCAT	0.527										HNSCC(24;0.065)																											p.R30I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G89T	7						.						92.0	90.0	91.0					7																	126883170		2203	4300	6503	126670406	SO:0001583	missense	2918	exon2				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.89G>T	7.37:g.126883170C>A	ENSP00000344173:p.Arg30Ile	Somatic		Capture	Illumina HiSeq	Phase_I	126670406	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180461	0.38511	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	6.17	6.17	0.99709	.	0.133058	0.53938	D	0.000060	T	0.54581	0.1867	N	0.12182	0.205	0.42989	D	0.994489	B;B	0.17038	0.02;0.001	B;B	0.16289	0.015;0.005	T	0.49762	-0.8905	10	0.35671	T	0.21	.	15.3567	0.74431	0.0:0.8613:0.1387:0.0	.	30;30	O00222-2;O00222	.;GRM8_HUMAN	I	30	ENSP00000344173:R30I;ENSP00000409790:R30I;ENSP00000351142:R30I;ENSP00000385731:R30I;ENSP00000415522:R30I	ENSP00000344173:R30I	R	-	2	0	GRM8	126670406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.262000	0.43285	2.941000	0.99782	0.655000	0.94253	AGA		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
PAX4	5078	broad.mit.edu	37	7	127253917	127253917	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:127253917A>G	ENST00000341640.2	-	4	636	c.431T>C	c.(430-432)gTc>gCc	p.V144A	PAX4_ENST00000463946.1_Missense_Mutation_p.V142A|PAX4_ENST00000378740.2_Missense_Mutation_p.V144A|PAX4_ENST00000338516.3_Missense_Mutation_p.V152A	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	152					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.V144A(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGAGTGAGGACAGCTGGAGC	0.577																																					p.V144A	Ovarian(113;737 1605 7858 27720 34092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T431C	7						.						74.0	64.0	68.0					7																	127253917		2203	4300	6503	127041153	SO:0001583	missense	5078	exon4				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.431T>C	7.37:g.127253917A>G	ENSP00000339906:p.Val144Ala	Somatic		Capture	Illumina HiSeq	Phase_I	127041153	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	A	0.687	-0.795809	0.02862	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.93859	-3.3;-3.25;-3.15	5.18	0.825	0.18824	.	0.660399	0.13765	N	0.364286	T	0.79684	0.4488	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.001;0.003	B;B;B;B	0.09377	0.002;0.0;0.003;0.004	T	0.65615	-0.6125	10	0.07175	T	0.84	.	4.1444	0.10209	0.3845:0.1761:0.4394:0.0	.	144;142;152;142	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	A	144;152;152;142	ENSP00000339906:V144A;ENSP00000344297:V152A;ENSP00000451923:V142A	ENSP00000344297:V152A	V	-	2	0	PAX4	127041153	0.088000	0.21588	0.008000	0.14137	0.000000	0.00434	0.656000	0.24948	0.183000	0.20059	-1.090000	0.02178	GTC		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
SND1	27044	broad.mit.edu	37	7	127344908	127344908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:127344908G>T	ENST00000354725.3	+	8	1050	c.856G>T	c.(856-858)Gag>Tag	p.E286*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	286	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.E286*(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAACATCACAGAGCTCCTCCT	0.488																																					p.E286X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G856T	7						.						106.0	91.0	96.0					7																	127344908		2203	4300	6503	127132144	SO:0001587	stop_gained	27044	exon8				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.856G>T	7.37:g.127344908G>T	ENSP00000346762:p.Glu286*	Somatic		Capture	Illumina HiSeq	Phase_I	127132144	NM_014390	Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	40	8.016321	0.98610	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	5.92	5.92	0.95590	.	0.093348	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-29.6588	17.8282	0.88672	0.0:0.0:1.0:0.0	.	.	.	.	X	286;276	.	ENSP00000346762:E286X	E	+	1	0	SND1	127132144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.485000	0.97942	2.822000	0.97130	0.650000	0.86243	GAG		0.488	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
LRRC4	64101	broad.mit.edu	37	7	127669904	127669904	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:127669904C>A	ENST00000249363.3	-	2	1047	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	264					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G264W(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAAGCCAGCCCGTCAAAAGCA	0.547																																					p.G264W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790T	7						.						68.0	51.0	57.0					7																	127669904		2203	4299	6502	127457140	SO:0001583	missense	64101	exon2			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.790G>T	7.37:g.127669904C>A	ENSP00000249363:p.Gly264Trp	Somatic		Capture	Illumina HiSeq	Phase_I	127457140	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128953	0.56721	.	.	ENSG00000128594	ENST00000249363	T	0.63096	-0.02	4.7	4.7	0.59300	.	0.331492	0.27340	N	0.019812	T	0.81322	0.4798	M	0.90082	3.085	0.51767	D	0.99993	D	0.71674	0.998	D	0.64595	0.927	D	0.85683	0.1302	10	0.87932	D	0	.	15.1891	0.73028	0.0:1.0:0.0:0.0	.	264	Q9HBW1	LRRC4_HUMAN	W	264	ENSP00000249363:G264W	ENSP00000249363:G264W	G	-	1	0	LRRC4	127457140	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	3.954000	0.56708	2.408000	0.81797	0.655000	0.94253	GGG		0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
OPN1SW	611	broad.mit.edu	37	7	128415534	128415534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:128415534C>T	ENST00000249389.2	-	1	310	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	104					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.R104H(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACAAACATGGCGACCGAAGAC	0.552																																					p.R104H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	7						.						134.0	137.0	136.0					7																	128415534		2203	4300	6503	128202770	SO:0001583	missense	611	exon1			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.311G>A	7.37:g.128415534C>T	ENSP00000249389:p.Arg104His	Somatic		Capture	Illumina HiSeq	Phase_I	128202770	NM_001708	Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	4.505	0.093681	0.08632	.	.	ENSG00000128617	ENST00000249389	T	0.73047	-0.71	5.35	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.643701	0.16747	N	0.201192	T	0.43942	0.1270	N	0.04297	-0.235	0.09310	N	1	B	0.19200	0.034	B	0.16289	0.015	T	0.31280	-0.9949	10	0.46703	T	0.11	.	6.7347	0.23403	0.0:0.4076:0.4331:0.1594	.	104	P03999	OPSB_HUMAN	H	104	ENSP00000249389:R104H	ENSP00000249389:R104H	R	-	2	0	OPN1SW	128202770	0.000000	0.05858	0.548000	0.28192	0.795000	0.44927	-0.788000	0.04614	0.071000	0.16664	0.655000	0.94253	CGC		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708	
CCDC136	64753	broad.mit.edu	37	7	128441526	128441526	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:128441526C>T	ENST00000297788.4	+	4	1000	c.633C>T	c.(631-633)tcC>tcT	p.S211S	CCDC136_ENST00000378685.4_Splice_Site_p.S261S|CCDC136_ENST00000464832.1_Silent_p.S261S|CCDC136_ENST00000487361.1_Silent_p.S211S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	211	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S211S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGAACCATCCGGTAGTTTAG	0.448																																					p.S211S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C633T	7						.						42.0	45.0	44.0					7																	128441526		1933	4140	6073	128228762	SO:0001819	synonymous_variant	64753	exon4				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.633C>T	7.37:g.128441526C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128228762	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452302	0.12283	.	.	ENSG00000128596	ENST00000494552	.	.	.	4.7	0.196	0.15159	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.27423	N	0.954231	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	-4.3055	0.5967	0.00737	0.1741:0.3337:0.1691:0.3231	.	.	.	.	L	88	.	.	P	+	2	0	CCDC136	128228762	0.004000	0.15560	0.131000	0.22000	0.011000	0.07611	-0.315000	0.08081	0.429000	0.26202	-0.140000	0.14226	CCG		0.448	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
FLNC	2318	broad.mit.edu	37	7	128485100	128485100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:128485100C>T	ENST00000325888.8	+	21	3842	c.3581C>T	c.(3580-3582)tCg>tTg	p.S1194L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1194L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1194					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.S1194L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGATCCTGTCGGATGCCGGG	0.632																																					p.S1194L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3581T	7						.						46.0	54.0	51.0					7																	128485100		2195	4285	6480	128272336	SO:0001583	missense	2318	exon21			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3581C>T	7.37:g.128485100C>T	ENSP00000327145:p.Ser1194Leu	Somatic		Capture	Illumina HiSeq	Phase_I	128272336	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608453	0.66558	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92249	-3.0;-3.0	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.81802	2.56	0.58432	D	0.999999	D;B	0.89917	1.0;0.424	D;B	0.85130	0.997;0.087	D	0.96541	0.9400	10	0.87932	D	0	.	19.5273	0.95212	0.0:1.0:0.0:0.0	.	1194;1194	Q14315-2;Q14315	.;FLNC_HUMAN	L	1194	ENSP00000327145:S1194L;ENSP00000344002:S1194L	ENSP00000327145:S1194L	S	+	2	0	FLNC	128272336	1.000000	0.71417	0.854000	0.33618	0.310000	0.27922	7.818000	0.86416	2.615000	0.88500	0.555000	0.69702	TCG		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
FLNC	2318	broad.mit.edu	37	7	128488896	128488896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:128488896G>A	ENST00000325888.8	+	28	5048	c.4787G>A	c.(4786-4788)gGc>gAc	p.G1596D	FLNC_ENST00000346177.6_Missense_Mutation_p.G1596D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1596					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G1596D(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AATGGGGATGGCACGTACACT	0.602																																					p.G1596D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4787A	7						.						127.0	144.0	138.0					7																	128488896		2126	4236	6362	128276132	SO:0001583	missense	2318	exon28			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4787G>A	7.37:g.128488896G>A	ENSP00000327145:p.Gly1596Asp	Somatic		Capture	Illumina HiSeq	Phase_I	128276132	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082732	0.76528	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.90444	-2.67;-2.67	5.09	5.09	0.68999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95997	0.8990	10	0.87932	D	0	.	18.8541	0.92244	0.0:0.0:1.0:0.0	.	1596;1596	Q14315-2;Q14315	.;FLNC_HUMAN	D	1596	ENSP00000327145:G1596D;ENSP00000344002:G1596D	ENSP00000327145:G1596D	G	+	2	0	FLNC	128276132	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	7.944000	0.87722	2.513000	0.84729	0.655000	0.94253	GGC		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
AHCYL2	23382	broad.mit.edu	37	7	129028979	129028979	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129028979C>A	ENST00000325006.3	+	3	612	c.558C>A	c.(556-558)ttC>ttA	p.F186L	AHCYL2_ENST00000446212.1_Missense_Mutation_p.F84L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.F185L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.F83L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.F83L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.F105L|AHCYL2_ENST00000472554.1_3'UTR	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	186					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.F186L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCAGTGACTTCTGTGTTAAGA	0.418																																					p.F83L	Pancreas(160;1736 1964 29875 40941 45605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C249A	7						.						113.0	103.0	107.0					7																	129028979		2203	4300	6503	128816215	SO:0001583	missense	23382	exon3			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.558C>A	7.37:g.129028979C>A	ENSP00000315931:p.Phe186Leu	Somatic		Capture	Illumina HiSeq	Phase_I	128816215	NM_001130722	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.507380|4.507380	0.85282|0.85282	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993|ENST00000466924	T;T;T;T;T;T;T|.	0.77358|.	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09|.	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77301|0.77301	0.4110|0.4110	M|M	0.84433|0.84433	2.695|2.695	0.52501|0.52501	D|D	0.999957|0.999957	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.999|.	D;D;D;D;D|.	0.74348|.	0.983;0.983;0.983;0.983;0.97|.	T|T	0.79683|0.79683	-0.1701|-0.1701	10|5	0.87932|.	D|.	0|.	-14.2113|-14.2113	13.4851|13.4851	0.61359|0.61359	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	83;84;186;83;185|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	L|Y	186;185;105;83;84;83;84|93	ENSP00000315931:F186L;ENSP00000413639:F185L;ENSP00000431787:F105L;ENSP00000420459:F83L;ENSP00000405267:F84L;ENSP00000420801:F83L;ENSP00000419608:F84L|.	ENSP00000315931:F186L|.	F|S	+|+	3|2	2|0	AHCYL2|AHCYL2	128816215|128816215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.928000|4.928000	0.63447|0.63447	1.384000|1.384000	0.46424|0.46424	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.418	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
NRF1	4899	broad.mit.edu	37	7	129297219	129297219	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129297219G>A	ENST00000393232.1	+	2	145	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	NRF1_ENST00000223190.4_Missense_Mutation_p.E10K|NRF1_ENST00000393231.3_Missense_Mutation_p.E10K|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000311967.2_Missense_Mutation_p.E10K|NRF1_ENST00000353868.4_Missense_Mutation_p.E10K|NRF1_ENST00000393230.2_Missense_Mutation_p.E10K	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	10	Dimerization.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E10K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCCAAACCGAACATATGGC	0.438																																					p.E10K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G28A	7						.						99.0	96.0	97.0					7																	129297219		2203	4300	6503	129084455	SO:0001583	missense	4899	exon2			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.28G>A	7.37:g.129297219G>A	ENSP00000376924:p.Glu10Lys	Somatic		Capture	Illumina HiSeq	Phase_I	129084455	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240961	0.79912	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.044570	0.85682	D	0.000000	T	0.35068	0.0919	N	0.14661	0.345	0.80722	D	1	P;B	0.35551	0.509;0.222	B;B	0.19148	0.024;0.015	T	0.38478	-0.9659	9	0.72032	D	0.01	-15.8168	18.4511	0.90704	0.0:0.0:1.0:0.0	.	10;10	Q96AN2;Q16656	.;NRF1_HUMAN	K	10	.	ENSP00000223190:E10K	E	+	1	0	NRF1	129084455	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.257000	0.78362	2.617000	0.88574	0.585000	0.79938	GAA		0.438	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	
ZC3HC1	51530	broad.mit.edu	37	7	129663502	129663502	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129663502A>G	ENST00000358303.4	-	8	1166	c.1082T>C	c.(1081-1083)gTt>gCt	p.V361A	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.V340A|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.V318A	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	361					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.V361A(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGGACGGTCAACAGGACTGGA	0.567																																					p.V361A	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1082C	7						.						97.0	85.0	89.0					7																	129663502		2203	4300	6503	129450738	SO:0001583	missense	51530	exon8			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1082T>C	7.37:g.129663502A>G	ENSP00000351052:p.Val361Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129450738	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598683	0.28445	.	.	ENSG00000091732	ENST00000358303;ENST00000311873;ENST00000481503	T;T;T	0.43294	1.55;1.56;0.95	5.49	4.33	0.51752	.	0.404663	0.23758	N	0.044857	T	0.24353	0.0590	N	0.19112	0.55	0.31483	N	0.666923	B;B	0.12630	0.006;0.006	B;B	0.13407	0.009;0.008	T	0.24119	-1.0169	10	0.11182	T	0.66	-2.6457	9.1409	0.36903	0.9162:0.0:0.0838:0.0	.	361;318	Q86WB0;C9J0I9	NIPA_HUMAN;.	A	361;340;318	ENSP00000351052:V361A;ENSP00000309301:V340A;ENSP00000418533:V318A	ENSP00000309301:V340A	V	-	2	0	ZC3HC1	129450738	0.064000	0.20934	0.969000	0.41365	0.713000	0.41058	2.335000	0.43929	0.917000	0.36895	0.460000	0.39030	GTT		0.567	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
CPA4	51200	broad.mit.edu	37	7	129933080	129933080	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129933080A>C	ENST00000222482.4	+	1	88	c.60A>C	c.(58-60)aaA>aaC	p.K20N	CPA4_ENST00000493259.1_5'UTR|CPA4_ENST00000445470.2_Missense_Mutation_p.K20N	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	20					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K20N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCCAAGAAAAATTTTTTGGGT	0.433																																					p.K20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A60C	7						.						112.0	111.0	111.0					7																	129933080		2203	4300	6503	129720316	SO:0001583	missense	51200	exon1			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.60A>C	7.37:g.129933080A>C	ENSP00000222482:p.Lys20Asn	Somatic		Capture	Illumina HiSeq	Phase_I	129720316	NM_001163446	B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	A	6.812	0.518915	0.13005	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000492072;ENST00000473956	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.4	-0.152	0.13407	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (1);	0.408521	0.24762	N	0.035803	T	0.19005	0.0456	N	0.04880	-0.145	0.30689	N	0.751477	B;B	0.12013	0.0;0.005	B;B	0.06405	0.002;0.002	T	0.13791	-1.0496	10	0.26408	T	0.33	.	10.5678	0.45184	0.2924:0.0:0.7076:0.0	.	20;20	B7Z576;Q9UI42	.;CBPA4_HUMAN	N	20	ENSP00000412947:K20N;ENSP00000222482:K20N;ENSP00000417255:K20N;ENSP00000418392:K20N	ENSP00000222482:K20N	K	+	3	2	CPA4	129720316	0.943000	0.32029	0.362000	0.25862	0.663000	0.39108	-0.170000	0.09897	-0.345000	0.08325	0.450000	0.29827	AAA		0.433	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352	
CEP41	95681	broad.mit.edu	37	7	130039918	130039918	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:130039918T>C	ENST00000223208.5	-	10	1205	c.935A>G	c.(934-936)tAt>tGt	p.Y312C	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	312					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.Y312C(1)									TTCCAGATAATATTCTATCTT	0.443																																					p.Y312C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A935G	7						.						72.0	77.0	75.0					7																	130039918		2203	4300	6503	129827154	SO:0001583	missense	95681	exon10			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.935A>G	7.37:g.130039918T>C	ENSP00000223208:p.Tyr312Cys	Somatic		Capture	Illumina HiSeq	Phase_I	129827154	NM_018718	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421968	0.43020	.	.	ENSG00000106477	ENST00000223208	D	0.88509	-2.39	5.79	4.65	0.58169	.	0.294532	0.39020	N	0.001493	D	0.82572	0.5066	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.76011	-0.3115	10	0.37606	T	0.19	-3.0229	10.0118	0.41990	0.0:0.0806:0.0:0.9194	.	312	Q9BYV8	CEP41_HUMAN	C	312	ENSP00000223208:Y312C	ENSP00000223208:Y312C	Y	-	2	0	TSGA14	129827154	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.278000	0.43426	1.037000	0.40024	0.533000	0.62120	TAT		0.443	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	
PLXNA4	91584	broad.mit.edu	37	7	131831354	131831354	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:131831354T>C	ENST00000359827.3	-	28	5932	c.4970A>G	c.(4969-4971)aAc>aGc	p.N1657S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.N1657S			Q9HCM2	PLXA4_HUMAN	plexin A4	1657					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.N1657S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTGCTCGTGGTTCTTCACTAG	0.577																																					p.N1657S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4970G	7						.						189.0	204.0	199.0					7																	131831354		2189	4297	6486	131481894	SO:0001583	missense	91584	exon28			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4970A>G	7.37:g.131831354T>C	ENSP00000352882:p.Asn1657Ser	Somatic		Capture	Illumina HiSeq	Phase_I	131481894	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571782	0.86542	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11277	2.79;2.79	5.8	5.8	0.92144	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01492	-1.1341	10	0.27785	T	0.31	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	1657	Q9HCM2	PLXA4_HUMAN	S	1657	ENSP00000323194:N1657S;ENSP00000352882:N1657S	ENSP00000323194:N1657S	N	-	2	0	PLXNA4	131481894	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.888000	0.87302	2.226000	0.72624	0.459000	0.35465	AAC		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	131982879	131982879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:131982879C>T	ENST00000359827.3	-	4	2436	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E492K			Q9HCM2	PLXA4_HUMAN	plexin A4	492	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E492K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGAGTTGCTCGTGGTCCTTG	0.577																																					p.E492K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1474A	7						.						77.0	81.0	80.0					7																	131982879		1953	4136	6089	131633419	SO:0001583	missense	91584	exon4			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1474G>A	7.37:g.131982879C>T	ENSP00000352882:p.Glu492Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131633419	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091072	0.36855	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.04706	3.57;3.57	6.04	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.104089	0.64402	D	0.000004	T	0.02767	0.0083	N	0.10972	0.075	0.40029	D	0.975506	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.06625	T	0.88	.	12.5322	0.56122	0.0:0.8665:0.0:0.1335	.	492	Q9HCM2	PLXA4_HUMAN	K	492	ENSP00000323194:E492K;ENSP00000352882:E492K	ENSP00000323194:E492K	E	-	1	0	PLXNA4	131633419	0.380000	0.25131	0.999000	0.59377	0.995000	0.86356	0.889000	0.28282	1.572000	0.49736	0.561000	0.74099	GAG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
EXOC4	60412	broad.mit.edu	37	7	132973729	132973729	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:132973729G>A	ENST00000253861.4	+	3	359	c.330G>A	c.(328-330)gaG>gaA	p.E110E	EXOC4_ENST00000539845.1_Silent_p.E9E|EXOC4_ENST00000393161.2_Silent_p.E110E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	110					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.E110E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACGGGATGAGCTTCGGAAAC	0.438																																					p.E110E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G330A	7						.						111.0	95.0	100.0					7																	132973729		2203	4300	6503	132624269	SO:0001819	synonymous_variant	60412	exon3			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.330G>A	7.37:g.132973729G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132624269	NM_001037126	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																				0.438	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
LRGUK	136332	broad.mit.edu	37	7	133868569	133868569	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:133868569G>A	ENST00000285928.2	+	11	1367	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	433	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.R433H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTGCCCATCGCCTCTGCAGA	0.463																																					p.R433H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1298A	7						.						201.0	177.0	185.0					7																	133868569		2203	4300	6503	133519109	SO:0001583	missense	136332	exon11			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1298G>A	7.37:g.133868569G>A	ENSP00000285928:p.Arg433His	Somatic		Capture	Illumina HiSeq	Phase_I	133519109	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221291	0.79464	.	.	ENSG00000155530	ENST00000285928	T	0.42900	0.96	5.83	4.96	0.65561	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.135398	0.47455	D	0.000233	T	0.66025	0.2748	M	0.79258	2.445	0.36607	D	0.874973	D	0.89917	1.0	D	0.85130	0.997	T	0.76672	-0.2873	10	0.87932	D	0	-17.1023	15.458	0.75330	0.0:0.0:0.8599:0.1401	.	433	Q96M69	LRGUK_HUMAN	H	433	ENSP00000285928:R433H	ENSP00000285928:R433H	R	+	2	0	LRGUK	133519109	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.414000	0.44627	1.487000	0.48415	-0.224000	0.12420	CGC		0.463	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
LRGUK	136332	broad.mit.edu	37	7	133906574	133906574	+	Missense_Mutation	SNP	G	G	T	rs137919767		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:133906574G>T	ENST00000285928.2	+	16	1956	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	629						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.K629N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATCCTACAAAGTATATTTCTT	0.348																																					p.K629N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1887T	7						.						76.0	76.0	76.0					7																	133906574		2203	4300	6503	133557114	SO:0001583	missense	136332	exon16			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1887G>T	7.37:g.133906574G>T	ENSP00000285928:p.Lys629Asn	Somatic		Capture	Illumina HiSeq	Phase_I	133557114	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159449	0.21454	.	.	ENSG00000155530	ENST00000285928	T	0.37235	1.21	5.3	3.48	0.39840	.	1.161580	0.06073	N	0.660453	T	0.37812	0.1017	M	0.63428	1.95	0.09310	N	1	B	0.18863	0.031	B	0.10450	0.005	T	0.33471	-0.9867	10	0.59425	D	0.04	-8.1785	6.7839	0.23662	0.0902:0.0:0.7355:0.1743	.	629	Q96M69	LRGUK_HUMAN	N	629	ENSP00000285928:K629N	ENSP00000285928:K629N	K	+	3	2	LRGUK	133557114	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.366000	0.20365	0.606000	0.29965	0.555000	0.69702	AAG		0.348	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
AKR1B15	441282	broad.mit.edu	37	7	134260172	134260172	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:134260172G>A	ENST00000457545.2	+	7	774	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	AKR1B15_ENST00000423958.1_Splice_Site_p.A144T	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	172							oxidoreductase activity (GO:0016491)	p.A190T(1)|p.A144T(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCTATGATAGGCCATGGAGGA	0.522																																					p.A172T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G514A	7						.						52.0	55.0	54.0					7																	134260172		2203	4300	6503	133910712	SO:0001630	splice_region_variant	441282	exon7				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.514-1G>A	7.37:g.134260172G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133910712	NM_001080538	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	20.7	4.036508	0.75617	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.23348	1.91;1.91	3.49	3.49	0.39957	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.44953	0.1318	M	0.84846	2.72	0.50467	D	0.999875	D;P	0.53745	0.962;0.948	P;P	0.52646	0.484;0.705	T	0.55296	-0.8163	8	.	.	.	.	13.6779	0.62465	0.0:0.0:1.0:0.0	.	144;172	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	T	172;144	ENSP00000389289:A172T;ENSP00000397009:A144T	.	A	+	1	0	AKR1B15	133910712	1.000000	0.71417	0.782000	0.31804	0.511000	0.34104	8.891000	0.92485	1.747000	0.51819	0.543000	0.68304	GCC		0.522	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		Missense_Mutation
CALD1	800	broad.mit.edu	37	7	134625935	134625935	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:134625935G>A	ENST00000361675.2	+	7	1708	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S	CALD1_ENST00000422748.1_Silent_p.S264S|CALD1_ENST00000393118.2_Silent_p.S258S|CALD1_ENST00000495522.1_Silent_p.S258S|CALD1_ENST00000417172.1_Silent_p.S238S|CALD1_ENST00000361901.2_Silent_p.S238S|CALD1_ENST00000361388.2_Silent_p.S264S|CALD1_ENST00000424922.1_Silent_p.S232S|CALD1_ENST00000543443.1_Silent_p.S243S			Q05682	CALD1_HUMAN	caldesmon 1	493					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S493S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAGTTAAGTCGCAGAATGGAG	0.348																																					p.S238S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G714A	7						.						84.0	78.0	80.0					7																	134625935		2203	4300	6503	134276475	SO:0001819	synonymous_variant	800	exon6			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1479G>A	7.37:g.134625935G>A		Somatic		Capture	Illumina HiSeq	Phase_I	134276475	NM_004342	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																				0.348	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
C7orf49	78996	broad.mit.edu	37	7	134853583	134853583	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:134853583G>A	ENST00000393114.3	-	2	273	c.92C>T	c.(91-93)gCc>gTc	p.A31V	C7orf49_ENST00000459937.1_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000430372.1_Silent_p.G16G			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	31						cytoplasm (GO:0005737)		p.A3V(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CCTCTTGGGGGCCTTCATTGG	0.562											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A31V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92T	7						.						169.0	166.0	167.0					7																	134853583		2203	4300	6503	134504123	SO:0001583	missense	78996	exon2			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.92C>T	7.37:g.134853583G>A	ENSP00000376823:p.Ala31Val	Somatic	1613	Capture	Illumina HiSeq	Phase_I	134504123	NM_024033	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000122783	ENST00000393114	.	.	.	4.4	3.51	0.40186	.	0.387063	0.19372	N	0.115890	T	0.26774	0.0655	N	0.14661	0.345	0.22001	N	0.999424	B	0.24426	0.103	B	0.28011	0.085	T	0.20773	-1.0265	9	0.46703	T	0.11	-9.202	9.6994	0.40178	0.0:0.0:0.7942:0.2058	.	31	Q9BWK5	MRI_HUMAN	V	31	.	ENSP00000376823:A31V	A	-	2	0	C7orf49	134504123	0.003000	0.15002	0.095000	0.20976	0.445000	0.32107	-0.077000	0.11394	1.064000	0.40671	0.462000	0.41574	GCC		0.562	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033	
WDR91	29062	broad.mit.edu	37	7	134878343	134878343	+	Missense_Mutation	SNP	C	C	T	rs562670557		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:134878343C>T	ENST00000354475.4	-	10	1508	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	WDR91_ENST00000423565.1_Missense_Mutation_p.D458N|WDR91_ENST00000344400.5_Missense_Mutation_p.D493N|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	493								p.D493N(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGCATGTTGTCGTTGATATTG	0.572																																					p.D493N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	7						.						109.0	86.0	94.0					7																	134878343		2203	4300	6503	134528883	SO:0001583	missense	29062	exon10			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1477G>A	7.37:g.134878343C>T	ENSP00000346466:p.Asp493Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134528883	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706982	0.68615	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.64438	1.5;-0.1;0.5	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.140563	0.64402	D	0.000005	T	0.66177	0.2763	L	0.43152	1.355	0.58432	D	0.999997	D	0.69078	0.997	P	0.50659	0.647	T	0.65224	-0.6220	10	0.42905	T	0.14	-6.5352	19.7503	0.96265	0.0:1.0:0.0:0.0	.	493	A4D1P6	WDR91_HUMAN	N	493;493;458	ENSP00000340877:D493N;ENSP00000346466:D493N;ENSP00000392555:D458N	ENSP00000340877:D493N	D	-	1	0	WDR91	134528883	1.000000	0.71417	0.123000	0.21794	0.904000	0.53231	7.487000	0.81328	2.648000	0.89879	0.655000	0.94253	GAC		0.572	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
STRA8	346673	broad.mit.edu	37	7	134916782	134916782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:134916782C>A	ENST00000275764.3	+	1	52	c.52C>A	c.(52-54)Ctg>Atg	p.L18M		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.L18M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGAAATCAGGCTGTGGCAGGT	0.512																																					p.L18M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52A	7						.						124.0	117.0	119.0					7																	134916782		2203	4300	6503	134567322	SO:0001583	missense	346673	exon1			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.52C>A	7.37:g.134916782C>A	ENSP00000275764:p.Leu18Met	Somatic		Capture	Illumina HiSeq	Phase_I	134567322	NM_182489		Missense_Mutation	SNP	ENST00000275764.3	37	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	5.016	0.188714	0.09547	.	.	ENSG00000146857	ENST00000275764	.	.	.	3.24	1.36	0.22044	.	.	.	.	.	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.08722	-1.0708	8	0.87932	D	0	-1.3268	3.6707	0.08273	0.2447:0.6224:0.0:0.1329	.	18	Q7Z7C7	STRA8_HUMAN	M	18	.	ENSP00000275764:L18M	L	+	1	2	STRA8	134567322	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.708000	0.25719	0.363000	0.24346	0.655000	0.94253	CTG		0.512	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489	
NUP205	23165	broad.mit.edu	37	7	135258472	135258472	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135258472A>G	ENST00000285968.6	+	3	268	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	81					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q81R(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CAGGGTCAACAGGGAACTCGA	0.403																																					p.Q81R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A242G	7						.						111.0	103.0	105.0					7																	135258472		2203	4300	6503	134909012	SO:0001583	missense	23165	exon3			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.242A>G	7.37:g.135258472A>G	ENSP00000285968:p.Gln81Arg	Somatic		Capture	Illumina HiSeq	Phase_I	134909012	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635401	0.67130	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	5.1	5.1	0.69264	.	0.109197	0.64402	D	0.000004	T	0.39279	0.1072	L	0.54323	1.7	0.80722	D	1	P	0.49961	0.93	P	0.49301	0.606	T	0.16958	-1.0385	10	0.41790	T	0.15	-0.007	14.869	0.70441	1.0:0.0:0.0:0.0	.	81	Q92621	NU205_HUMAN	R	81	ENSP00000285968:Q81R	ENSP00000285968:Q81R	Q	+	2	0	NUP205	134909012	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.060000	0.93907	1.922000	0.55676	0.397000	0.26171	CAG		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
NUP205	23165	broad.mit.edu	37	7	135261155	135261155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135261155G>T	ENST00000285968.6	+	4	507	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	161					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E161*(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATGGACCCTAGAACTCAGGTC	0.383																																					p.E161X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G481T	7						.						126.0	122.0	123.0					7																	135261155		2203	4300	6503	134911695	SO:0001587	stop_gained	23165	exon4			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.481G>T	7.37:g.135261155G>T	ENSP00000285968:p.Glu161*	Somatic		Capture	Illumina HiSeq	Phase_I	134911695	NM_015135	A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041378	0.93685	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.55	4.66	0.58398	.	0.090654	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	0.364	10.1412	0.42736	0.0713:0.138:0.7906:0.0	.	.	.	.	X	161	.	ENSP00000285968:E161X	E	+	1	0	NUP205	134911695	1.000000	0.71417	0.984000	0.44739	0.928000	0.56348	7.960000	0.87893	1.457000	0.47850	-0.274000	0.10170	GAA		0.383	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
NUP205	23165	broad.mit.edu	37	7	135290953	135290953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135290953G>T	ENST00000285968.6	+	20	2910	c.2884G>T	c.(2884-2886)Gaa>Taa	p.E962*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	962					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E962*(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGATGCAGAAGAATTTGTACG	0.323																																					p.E962X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2884T	7						.						198.0	195.0	196.0					7																	135290953		2203	4300	6503	134941493	SO:0001587	stop_gained	23165	exon20			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2884G>T	7.37:g.135290953G>T	ENSP00000285968:p.Glu962*	Somatic		Capture	Illumina HiSeq	Phase_I	134941493	NM_015135	A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469405	0.98302	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.13	5.13	0.70059	.	0.047475	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-26.1172	17.1107	0.86674	0.0:0.0:1.0:0.0	.	.	.	.	X	962	.	ENSP00000285968:E962X	E	+	1	0	NUP205	134941493	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	9.441000	0.97557	2.547000	0.85894	0.462000	0.41574	GAA		0.323	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
NUP205	23165	broad.mit.edu	37	7	135303259	135303259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135303259G>T	ENST00000285968.6	+	28	3897	c.3871G>T	c.(3871-3873)Gaa>Taa	p.E1291*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1291					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E1291*(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCAACTAGTAGAAATTATACT	0.428																																					p.E1291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3871T	7						.						180.0	164.0	169.0					7																	135303259		2203	4300	6503	134953799	SO:0001587	stop_gained	23165	exon28			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3871G>T	7.37:g.135303259G>T	ENSP00000285968:p.Glu1291*	Somatic		Capture	Illumina HiSeq	Phase_I	134953799	NM_015135	A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	44	10.526580	0.99421	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-23.8434	19.3002	0.94141	0.0:0.0:1.0:0.0	.	.	.	.	X	1291	.	ENSP00000285968:E1291X	E	+	1	0	NUP205	134953799	1.000000	0.71417	0.925000	0.36789	0.971000	0.66376	9.848000	0.99507	2.558000	0.86282	0.467000	0.42956	GAA		0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
SLC13A4	26266	broad.mit.edu	37	7	135390963	135390963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135390963C>T	ENST00000354042.4	-	4	1140	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	151					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.V151M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGGCCTCCACGATGGGCATC	0.612																																					p.V151M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	7						.						116.0	94.0	102.0					7																	135390963		2203	4300	6503	135041503	SO:0001583	missense	26266	exon4			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.451G>A	7.37:g.135390963C>T	ENSP00000297282:p.Val151Met	Somatic		Capture	Illumina HiSeq	Phase_I	135041503	NM_012450	A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694987	0.88830	.	.	ENSG00000164707	ENST00000354042	T	0.03580	3.88	5.56	4.69	0.59074	.	0.063242	0.64402	D	0.000007	T	0.13030	0.0316	L	0.60957	1.885	0.46279	D	0.99896	D	0.71674	0.998	D	0.65684	0.937	T	0.00406	-1.1759	10	0.72032	D	0.01	.	12.1999	0.54319	0.0:0.9171:0.0:0.0829	.	151	Q9UKG4	S13A4_HUMAN	M	151	ENSP00000297282:V151M	ENSP00000297282:V151M	V	-	1	0	SLC13A4	135041503	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	1.356000	0.45884	0.561000	0.74099	GTG		0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
CHRM2	1129	broad.mit.edu	37	7	136700307	136700307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:136700307C>T	ENST00000445907.2	+	3	1223	c.695C>T	c.(694-696)tCt>tTt	p.S232F	CHRM2_ENST00000401861.1_Missense_Mutation_p.S232F|CHRM2_ENST00000453373.1_Missense_Mutation_p.S232F|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S232F|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S232F|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S232F|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	232					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.S232F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GACCCCGTTTCTCCAAGTCTG	0.488																																					p.S232F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	7						.						46.0	44.0	45.0					7																	136700307		2202	4300	6502	136350847	SO:0001583	missense	1129	exon5				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.695C>T	7.37:g.136700307C>T	ENSP00000399745:p.Ser232Phe	Somatic		Capture	Illumina HiSeq	Phase_I	136350847	NM_001006626	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335412	0.60853	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.427946	0.25820	N	0.028090	T	0.67107	0.2858	M	0.67397	2.05	0.53688	D	0.999975	B	0.23650	0.089	B	0.32090	0.14	T	0.66031	-0.6024	10	0.56958	D	0.05	-2.3171	19.1729	0.93588	0.0:1.0:0.0:0.0	.	232	P08172	ACM2_HUMAN	F	232	ENSP00000399745:S232F;ENSP00000415386:S232F;ENSP00000319984:S232F;ENSP00000380733:S232F;ENSP00000384937:S232F;ENSP00000384401:S232F	ENSP00000319984:S232F	S	+	2	0	CHRM2	136350847	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.990000	0.56965	2.541000	0.85698	0.655000	0.94253	TCT		0.488	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
CREB3L2	64764	broad.mit.edu	37	7	137567190	137567190	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:137567190C>A	ENST00000330387.6	-	11	1806	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	485					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E485D(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCACTGACTTCTCCAGGCTGG	0.542			T	FUS	fibromyxoid sarcoma																																p.E485D			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1455T	7						.						87.0	80.0	83.0					7																	137567190		2203	4300	6503	137217730	SO:0001583	missense	64764	exon11			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1455G>T	7.37:g.137567190C>A	ENSP00000329140:p.Glu485Asp	Somatic		Capture	Illumina HiSeq	Phase_I	137217730	NM_194071	Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320382	0.60634	.	.	ENSG00000182158	ENST00000330387	T	0.59364	0.27	5.59	4.68	0.58851	.	0.516694	0.21401	N	0.075141	T	0.38108	0.1028	N	0.22421	0.69	0.80722	D	1	P	0.43788	0.817	B	0.33454	0.164	T	0.16778	-1.0391	10	0.17369	T	0.5	0.0028	14.62	0.68576	0.0:0.8546:0.1454:0.0	.	485	Q70SY1	CR3L2_HUMAN	D	485	ENSP00000329140:E485D	ENSP00000329140:E485D	E	-	3	2	CREB3L2	137217730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.317000	0.45149	0.555000	0.69702	GAG		0.542	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	
ATP6V0A4	50617	broad.mit.edu	37	7	138434020	138434020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138434020G>A	ENST00000310018.2	-	12	1354	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.Q358*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.Q358*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	358					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.Q358*(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTTTTAGATTGCACTGTGGTC	0.473																																					p.Q358X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1072T	7	GRCh37	CM023020	ATP6V0A4	M		.						94.0	95.0	94.0					7																	138434020		2203	4300	6503	138084560	SO:0001587	stop_gained	50617	exon11			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1072C>T	7.37:g.138434020G>A	ENSP00000308122:p.Gln358*	Somatic		Capture	Illumina HiSeq	Phase_I	138084560	NM_130840	A4D1R4|A8KA80|Q32M47	Nonsense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970427	0.97971	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.13	3.13	0.36017	.	0.599517	0.16343	N	0.218564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.0849	10.4289	0.44395	0.0771:0.2847:0.6382:0.0	.	.	.	.	X	358	.	ENSP00000308122:Q358X	Q	-	1	0	ATP6V0A4	138084560	1.000000	0.71417	0.844000	0.33320	0.719000	0.41307	3.837000	0.55820	1.121000	0.41925	0.561000	0.74099	CAA		0.473	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
KIAA1549	57670	broad.mit.edu	37	7	138583724	138583724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138583724C>T	ENST00000422774.1	-	9	3872	c.3824G>A	c.(3823-3825)cGa>cAa	p.R1275Q	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1275Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1225Q			Q9HCM3	K1549_HUMAN	KIAA1549	1275						integral component of membrane (GO:0016021)		p.R1275Q(1)|p.R1225Q(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCTTGAATTCGGTAACCCAA	0.512			O	BRAF	pilocytic astrocytoma																																p.R1275Q	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3824A	7						.						159.0	155.0	156.0					7																	138583724		2131	4238	6369	138234264	SO:0001583	missense	57670	exon9				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3824G>A	7.37:g.138583724C>T	ENSP00000416040:p.Arg1275Gln	Somatic		Capture	Illumina HiSeq	Phase_I	138234264	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674143	0.88445	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28255	1.62;1.63;1.65	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.53837	-0.8382	10	0.56958	D	0.05	.	17.7133	0.88328	0.0:1.0:0.0:0.0	.	1275;59;1275;59	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Q	1275;1225;1275	ENSP00000406661:R1275Q;ENSP00000242365:R1225Q;ENSP00000416040:R1275Q	ENSP00000242365:R1225Q	R	-	2	0	KIAA1549	138234264	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	7.400000	0.79949	2.401000	0.81631	0.561000	0.74099	CGA		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KIAA1549	57670	broad.mit.edu	37	7	138603942	138603942	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138603942A>G	ENST00000422774.1	-	2	478	c.430T>C	c.(430-432)Tca>Cca	p.S144P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S144P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S94P			Q9HCM3	K1549_HUMAN	KIAA1549	144						integral component of membrane (GO:0016021)		p.S94P(1)|p.S144P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCGTCACTGACACGTAAGTT	0.473			O	BRAF	pilocytic astrocytoma																																p.S144P	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T430C	7						.						242.0	232.0	235.0					7																	138603942		2018	4190	6208	138254482	SO:0001583	missense	57670	exon2				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.430T>C	7.37:g.138603942A>G	ENSP00000416040:p.Ser144Pro	Somatic		Capture	Illumina HiSeq	Phase_I	138254482	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.508979	0.27036	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.35421	1.31;1.31;1.31	4.66	3.49	0.39957	.	0.000000	0.37393	N	0.002111	T	0.38878	0.1057	L	0.29908	0.895	0.09310	N	1	P;D	0.55385	0.952;0.971	P;P	0.58454	0.694;0.839	T	0.11616	-1.0580	10	0.39692	T	0.17	.	9.5406	0.39248	0.8225:0.1775:0.0:0.0	.	144;144	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	144;94;144	ENSP00000406661:S144P;ENSP00000242365:S94P;ENSP00000416040:S144P	ENSP00000242365:S94P	S	-	1	0	KIAA1549	138254482	0.560000	0.26570	0.007000	0.13788	0.056000	0.15407	1.111000	0.31159	0.811000	0.34303	0.459000	0.35465	TCA		0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
ETV1	2115	broad.mit.edu	37	7	13971292	13971292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:13971292G>A	ENST00000430479.1	-	9	1304	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	ETV1_ENST00000405192.2_Missense_Mutation_p.R213C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Missense_Mutation_p.R195C|ETV1_ENST00000405358.4_Missense_Mutation_p.R227C|ETV1_ENST00000403527.1_Missense_Mutation_p.R173C|ETV1_ENST00000403685.1_Missense_Mutation_p.R195C|ETV1_ENST00000399357.3_Missense_Mutation_p.R110C|ETV1_ENST00000242066.5_Missense_Mutation_p.R195C|ETV1_ENST00000420159.2_Missense_Mutation_p.R155C|ETV1_ENST00000405218.2_Missense_Mutation_p.R213C	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	213					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R213C(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACATCTGGCGTTGGTACATA	0.532			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.R195C			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	7						.						141.0	138.0	139.0					7																	13971292		2042	4195	6237	13937817	SO:0001583	missense	2115	exon7				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.637C>T	7.37:g.13971292G>A	ENSP00000405327:p.Arg213Cys	Somatic		Capture	Illumina HiSeq	Phase_I	13937817	NM_001163149	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291112	0.95546	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D;B;B	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.314;0.409	D;D;D;P;D;D;B;B	0.91635	0.999;0.993;0.938;0.804;0.999;0.997;0.086;0.159	T	0.57854	-0.7739	10	0.62326	D	0.03	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	224;195;227;155;110;173;155;213	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	C	213;195;195;155;110;213;227;173;213;195;155;110	ENSP00000405327:R213C;ENSP00000242066:R195C;ENSP00000340853:R195C;ENSP00000411626:R155C;ENSP00000382293:R110C;ENSP00000385381:R213C;ENSP00000384085:R227C;ENSP00000384138:R173C;ENSP00000385551:R213C;ENSP00000385686:R195C;ENSP00000393078:R155C;ENSP00000394710:R110C	ENSP00000242066:R195C	R	-	1	0	ETV1	13937817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.909000	0.63314	2.932000	0.99384	0.644000	0.83932	CGC		0.532	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
KLRG2	346689	broad.mit.edu	37	7	139164973	139164973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:139164973A>G	ENST00000340940.4	-	2	847	c.778T>C	c.(778-780)Tcc>Ccc	p.S260P	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	260						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S260P(1)		central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CAGTACAGGGACTTCACGTAC	0.567																																					p.S260P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T778C	7						.						83.0	71.0	75.0					7																	139164973		2202	4300	6502	138815513	SO:0001583	missense	346689	exon2			AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.778T>C	7.37:g.139164973A>G	ENSP00000339356:p.Ser260Pro	Somatic		Capture	Illumina HiSeq	Phase_I	138815513	NM_198508	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925117	0.52759	.	.	ENSG00000188883	ENST00000340940	T	0.18502	2.21	4.78	4.78	0.61160	.	0.000000	0.39909	N	0.001228	T	0.29749	0.0743	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02144	-1.1206	10	0.62326	D	0.03	-27.6512	10.6651	0.45726	1.0:0.0:0.0:0.0	.	260	A4D1S0	KLRG2_HUMAN	P	260	ENSP00000339356:S260P	ENSP00000339356:S260P	S	-	1	0	KLRG2	138815513	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	3.983000	0.56916	2.018000	0.59344	0.533000	0.62120	TCC		0.567	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508	
DENND2A	27147	broad.mit.edu	37	7	140246731	140246731	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:140246731A>G	ENST00000275884.6	-	12	2463	c.2046T>C	c.(2044-2046)gaT>gaC	p.D682D	DENND2A_ENST00000496613.1_Silent_p.D682D|DENND2A_ENST00000492720.1_Silent_p.D682D|DENND2A_ENST00000537639.1_Silent_p.D682D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	682	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D682D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTTCCACCTCATCCAAGATCT	0.532																																					p.D682D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2046C	7						.						64.0	66.0	65.0					7																	140246731		1962	4176	6138	139893200	SO:0001819	synonymous_variant	27147	exon11			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2046T>C	7.37:g.140246731A>G		Somatic		Capture	Illumina HiSeq	Phase_I	139893200	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.532	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
WEE2	494551	broad.mit.edu	37	7	141408619	141408619	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141408619G>A	ENST00000397541.2	+	1	467	c.61G>A	c.(61-63)Gag>Aag	p.E21K	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	21					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.E21K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTATTGTGAGGAGACTGAGAT	0.433																																					p.E21K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	7						.						154.0	150.0	151.0					7																	141408619		1905	4117	6022	141055088	SO:0001583	missense	494551	exon1			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.61G>A	7.37:g.141408619G>A	ENSP00000380675:p.Glu21Lys	Somatic		Capture	Illumina HiSeq	Phase_I	141055088	NM_001105558		Missense_Mutation	SNP	ENST00000397541.2	37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	g	16.03	3.008379	0.54361	.	.	ENSG00000214102	ENST00000397541	T	0.21734	1.99	4.5	2.69	0.31865	.	0.000000	0.47455	U	0.000223	T	0.20577	0.0495	M	0.72118	2.19	0.23174	N	0.998175	P	0.48407	0.91	B	0.38106	0.265	T	0.16482	-1.0401	10	0.51188	T	0.08	-6.2327	8.9232	0.35623	0.08:0.1497:0.7703:0.0	.	21	P0C1S8	WEE2_HUMAN	K	21	ENSP00000380675:E21K	ENSP00000380675:E21K	E	+	1	0	WEE2	141055088	0.968000	0.33430	0.012000	0.15200	0.150000	0.21749	2.529000	0.45632	0.848000	0.35191	0.639000	0.83563	GAG		0.433	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
TAS2R4	50832	broad.mit.edu	37	7	141478735	141478735	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141478735G>A	ENST00000247881.2	+	1	494	c.447G>A	c.(445-447)acG>acA	p.T149T	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	149					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T149T(1)		endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGTACATCACGCTTAGCCAGG	0.468																																					p.T149T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	7						.						234.0	220.0	225.0					7																	141478735		2203	4300	6503	141125204	SO:0001819	synonymous_variant	50832	exon1			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.447G>A	7.37:g.141478735G>A		Somatic		Capture	Illumina HiSeq	Phase_I	141125204	NM_016944	Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	CCDS5868.1																																																																																				0.468	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1		
PRSS37	136242	broad.mit.edu	37	7	141539163	141539163	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141539163G>T	ENST00000350549.3	-	2	522	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	PRSS37_ENST00000438520.1_Missense_Mutation_p.L51M	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	51	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.L51M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GCTGGGGCCAGCACCCAGCTG	0.493																																					p.L51M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C151A	7						.						69.0	66.0	67.0					7																	141539163		2203	4300	6503	141185632	SO:0001583	missense	136242	exon2				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.151C>A	7.37:g.141539163G>T	ENSP00000297767:p.Leu51Met	Somatic		Capture	Illumina HiSeq	Phase_I	141185632	NM_001171951	B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590104	0.66105	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.67345	-0.26;-0.26	5.45	2.73	0.32206	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	D	0.000300	T	0.80380	0.4612	M	0.89163	3.01	0.32727	N	0.509498	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81158	-0.1060	10	0.87932	D	0	.	4.8064	0.13323	0.2507:0.156:0.5933:0.0	.	51;51	B7ZMK3;A4D1T9	.;PRS37_HUMAN	M	51	ENSP00000297767:L51M;ENSP00000414461:L51M	ENSP00000297767:L51M	L	-	1	2	PRSS37	141185632	0.532000	0.26346	0.981000	0.43875	0.948000	0.59901	0.876000	0.28092	0.452000	0.26830	0.585000	0.79938	CTG		0.493	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	
OR9A4	130075	broad.mit.edu	37	7	141618903	141618903	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141618903C>T	ENST00000548136.1	+	1	287	c.228C>T	c.(226-228)atC>atT	p.I76I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I76I(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAACCATAATCGTCCCCGTGA	0.507																																					p.I76I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C228T	7						.						121.0	125.0	124.0					7																	141618903		2203	4300	6503	141265372	SO:0001819	synonymous_variant	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.228C>T	7.37:g.141618903C>T		Somatic		Capture	Illumina HiSeq	Phase_I	141265372	NM_001001656	B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.507	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
CLEC5A	23601	broad.mit.edu	37	7	141643757	141643757	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141643757C>A	ENST00000546910.1	-	4	343	c.147G>T	c.(145-147)caG>caT	p.Q49H	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	49					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.Q49H(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCAAAAATCTGTGAGACTA	0.433																																					p.Q49H	GBM(154;1592 2613 3360 42983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	7						.						209.0	186.0	194.0					7																	141643757		2203	4300	6503	141290226	SO:0001583	missense	23601	exon4				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.147G>T	7.37:g.141643757C>A	ENSP00000449999:p.Gln49His	Somatic		Capture	Illumina HiSeq	Phase_I	141290226	NM_013252	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	C	0.873	-0.731464	0.03135	.	.	ENSG00000258227	ENST00000546910	T	0.02158	4.42	4.35	1.46	0.22682	.	0.469632	0.18090	N	0.152032	T	0.03095	0.0091	L	0.32530	0.975	0.21325	N	0.999724	P;P	0.47677	0.899;0.838	P;B	0.50378	0.639;0.436	T	0.44190	-0.9344	10	0.45353	T	0.12	1.8559	5.8703	0.18799	0.0:0.644:0.0:0.356	.	49;49	Q9NY25-2;Q9NY25	.;CLC5A_HUMAN	H	49	ENSP00000449999:Q49H	ENSP00000265306:Q49H	Q	-	3	2	CLEC5A	141290226	0.000000	0.05858	0.143000	0.22291	0.060000	0.15804	-0.054000	0.11826	0.314000	0.23086	0.655000	0.94253	CAG		0.433	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252	
MGAM	8972	broad.mit.edu	37	7	141747643	141747643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141747643G>T	ENST00000549489.2	+	22	2652	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.E853*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	853	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E853*(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAAAAGGAGAACTTTTCTG	0.453																																					p.E853X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2557T	7						.						74.0	68.0	70.0					7																	141747643		1926	4147	6073	141394112	SO:0001587	stop_gained	8972	exon22			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2557G>T	7.37:g.141747643G>T	ENSP00000447378:p.Glu853*	Somatic		Capture	Illumina HiSeq	Phase_I	141394112	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	42	9.245395	0.99113	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.37	4.49	0.54785	.	0.262140	0.26489	N	0.024082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.9421	0.58350	0.0797:0.0:0.9203:0.0	.	.	.	.	X	853;853;730	.	ENSP00000316431:E730X	E	+	1	0	MGAM	141394112	1.000000	0.71417	0.476000	0.27291	0.992000	0.81027	4.508000	0.60441	1.282000	0.44496	0.650000	0.86243	GAA		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
DGKB	1607	broad.mit.edu	37	7	14188830	14188830	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:14188830G>A	ENST00000403951.2	-	26	2760	c.2341C>T	c.(2341-2343)Ctg>Ttg	p.L781L	DGKB_ENST00000399322.3_Silent_p.L781L|DGKB_ENST00000444700.2_Silent_p.L762L|DGKB_ENST00000407950.1_Silent_p.L773L|DGKB_ENST00000258767.5_Silent_p.L781L|DGKB_ENST00000402815.1_Silent_p.L780L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	781					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L781L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGGCCCATCAGCATTGGGGCT	0.398																																					p.L781L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2341T	7						.						115.0	111.0	113.0					7																	14188830		1820	4075	5895	14155355	SO:0001819	synonymous_variant	1607	exon25			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2341C>T	7.37:g.14188830G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14155355	NM_004080	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																				0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
MGAM	8972	broad.mit.edu	37	7	141759363	141759363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:141759363G>A	ENST00000549489.2	+	32	4006	c.3911G>A	c.(3910-3912)cGc>cAc	p.R1304H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1304H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1304	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1304H(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGATCAATCGCATGAAGGCT	0.547																																					p.R1304H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3911A	7						.						62.0	58.0	59.0					7																	141759363		1995	4154	6149	141405832	SO:0001583	missense	8972	exon32			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3911G>A	7.37:g.141759363G>A	ENSP00000447378:p.Arg1304His	Somatic		Capture	Illumina HiSeq	Phase_I	141405832	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.21	2.765163	0.49574	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91577	-2.87	4.21	3.32	0.38043	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.82737	0.5102	L	0.42686	1.345	0.22500	N	0.999047	P	0.43352	0.804	B	0.28991	0.097	T	0.74266	-0.3721	9	0.72032	D	0.01	.	7.3919	0.26915	0.2076:0.0:0.7924:0.0	.	1304	O43451	MGA_HUMAN	H	1304;1304;1181	ENSP00000447378:R1304H	ENSP00000316431:R1181H	R	+	2	0	MGAM	141405832	0.001000	0.12720	0.187000	0.23214	0.860000	0.49131	0.773000	0.26661	0.756000	0.33013	0.194000	0.17425	CGC		0.547	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																					p.V10A												.	.	0			c.T29C	7						.																																			142178812	SO:0001628	intergenic_variant	5645	exon1																															Unknown.37:g.0T>C		Somatic		Capture	Illumina HiSeq	Phase_I	142178812	NM_002770		Missense_Mutation	SNP		37																																																																																				0	0								
TRPV6	55503	broad.mit.edu	37	7	142583225	142583225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142583225G>T	ENST00000359396.3	-	1	282	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	13					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.L13I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATAGGCAGAGAATTAGCCCT	0.612																																					p.L13I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37A	7						.						106.0	110.0	109.0					7																	142583225		2203	4300	6503	142293347	SO:0001583	missense	55503	exon1			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.37C>A	7.37:g.142583225G>T	ENSP00000352358:p.Leu13Ile	Somatic		Capture	Illumina HiSeq	Phase_I	142293347	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146701	0.21288	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.77489	-1.1	3.54	3.54	0.40534	.	0.634254	0.15233	N	0.273315	T	0.62097	0.2400	N	0.13098	0.295	0.23016	N	0.998429	B	0.06786	0.001	B	0.06405	0.002	T	0.57934	-0.7725	10	0.72032	D	0.01	-22.3371	10.8384	0.46700	0.0:0.0:1.0:0.0	.	13	Q9H1D0	TRPV6_HUMAN	I	13	ENSP00000352358:L13I	ENSP00000310825:L13I	L	-	1	0	TRPV6	142293347	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.986000	0.49370	2.001000	0.58596	0.386000	0.25728	CTC		0.612	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV5	56302	broad.mit.edu	37	7	142605801	142605801	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142605801C>A	ENST00000265310.1	-	15	2417	c.2069G>T	c.(2068-2070)cGg>cTg	p.R690L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	690					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R690L(1)|p.R690Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGACGCGGTCCGGGACAGGGA	0.582																																					p.R690L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2069T	7						.						79.0	75.0	76.0					7																	142605801		2203	4300	6503	142315923	SO:0001583	missense	56302	exon15			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2069G>T	7.37:g.142605801C>A	ENSP00000265310:p.Arg690Leu	Somatic		Capture	Illumina HiSeq	Phase_I	142315923	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031754	0.75504	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.81908	-1.53;-1.55	4.84	4.84	0.62591	.	0.284265	0.32147	N	0.006509	D	0.89396	0.6703	M	0.79258	2.445	0.80722	D	1	D	0.64830	0.994	P	0.60286	0.872	D	0.90067	0.4160	10	0.54805	T	0.06	-22.1349	15.2639	0.73646	0.0:1.0:0.0:0.0	.	690	Q9NQA5	TRPV5_HUMAN	L	690;635	ENSP00000265310:R690L;ENSP00000406361:R635L	ENSP00000265310:R690L	R	-	2	0	TRPV5	142315923	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.577000	0.53885	2.534000	0.85438	0.655000	0.94253	CGG		0.582	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142611854	142611854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142611854C>T	ENST00000265310.1	-	12	1823	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	492					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCAGCAGAAACGCATTAGGTC	0.468																																					p.R492H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1475A	7						.						81.0	69.0	73.0					7																	142611854		2203	4300	6503	142321976	SO:0001583	missense	56302	exon12			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1475G>A	7.37:g.142611854C>T	ENSP00000265310:p.Arg492His	Somatic		Capture	Illumina HiSeq	Phase_I	142321976	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514611	0.85389	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.91740	-2.9;-2.9	5.24	5.24	0.73138	Ion transport (1);	0.061929	0.64402	D	0.000005	D	0.93331	0.7874	M	0.88704	2.975	0.80722	D	1	P	0.41345	0.746	B	0.38264	0.269	D	0.94522	0.7728	10	0.66056	D	0.02	-9.6578	18.173	0.89752	0.0:1.0:0.0:0.0	.	492	Q9NQA5	TRPV5_HUMAN	H	492;437	ENSP00000265310:R492H;ENSP00000406361:R437H	ENSP00000265310:R492H	R	-	2	0	TRPV5	142321976	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.500000	0.60387	2.595000	0.87683	0.655000	0.94253	CGT		0.468	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142625242	142625242	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142625242C>T	ENST00000265310.1	-	7	1198	c.850G>A	c.(850-852)Gac>Aac	p.D284N	TRPV5_ENST00000442623.1_Missense_Mutation_p.D284N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	284					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCCAGGAGTCGATCTCTGTG	0.557																																					p.D284N												.	.	0			c.G850A	7						.						137.0	116.0	123.0					7																	142625242		2203	4300	6503	142335364	SO:0001583	missense	56302	exon7			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.850G>A	7.37:g.142625242C>T	ENSP00000265310:p.Asp284Asn	None		Capture	Illumina HiSeq	Phase_I	142335364	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399303	0.62177	.	.	ENSG00000127412	ENST00000265310;ENST00000442623	T;T	0.50813	0.73;0.73	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.93594	3.435	0.80722	D	1	D;P	0.57257	0.979;0.918	B;B	0.41946	0.371;0.259	T	0.77083	-0.2719	10	0.72032	D	0.01	-24.8773	16.4532	0.83998	0.0:1.0:0.0:0.0	.	284;284	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	N	284	ENSP00000265310:D284N;ENSP00000406572:D284N	ENSP00000265310:D284N	D	-	1	0	TRPV5	142335364	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	5.729000	0.68538	2.430000	0.82344	0.655000	0.94253	GAC		0.557	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KEL	3792	broad.mit.edu	37	7	142636830	142636830	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142636830A>G	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.T63A	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.T38A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGAGCCAGACAGAGAAAAC	0.557																																					p.T63A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187G	7						.						49.0	53.0	52.0					7																	142636830		2203	4300	6503	142346952	SO:0001628	intergenic_variant	135927	exon1			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636830A>G		Somatic		Capture	Illumina HiSeq	Phase_I	142346952	NM_178829	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	6.954|6.954	0.545904|0.545904	0.13312|0.13312	.|.	.|.	ENSG00000165131|ENSG00000165131	ENST00000458732|ENST00000409607	.|.	.|.	.|.	3.5|3.5	-0.471|-0.471	0.12119|0.12119	.|.	.|1.375140	.|0.04767	.|N	.|0.427336	T|T	0.28830|0.28830	0.0715|0.0715	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.28801	.|0.223	.|B	.|0.25140	.|0.058	T|T	0.16719|0.16719	-1.0393|-1.0393	5|9	.|0.27785	.|T	.|0.31	-9.5871|-9.5871	6.0084|6.0084	0.19559|0.19559	0.5704:0.0:0.4296:0.0|0.5704:0.0:0.4296:0.0	.|.	.|38	.|Q96L11	.|CG034_HUMAN	G|A	68|63	.|.	.|ENSP00000386450:T63A	D|T	+|+	2|1	0|0	C7orf34|C7orf34	142346952|142346952	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.700000|0.700000	0.25601|0.25601	-0.168000|-0.168000	0.10853|0.10853	-0.395000|-0.395000	0.06472|0.06472	GAC|ACA		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
CASP2	835	broad.mit.edu	37	7	142989780	142989780	+	Missense_Mutation	SNP	G	G	A	rs144817015		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142989780G>A	ENST00000310447.5	+	4	705	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.R155H|RN7SL535P_ENST00000479087.2_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	155					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.R155H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAGAAGCTCCGCCTGTCGACA	0.532																																					p.R155H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	7						.	G	HIS/ARG,HIS/ARG,	3,4403	6.2+/-15.9	0,3,2200	104.0	91.0	95.0		371,464,	3.0	1.0	7	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron	CASP2	NM_001224.4,NM_032982.3,NM_032983.3	29,29,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign,	124/313,155/453,	142989780	4,13002	2203	4300	6503	142699902	SO:0001583	missense	835	exon4			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.464G>A	7.37:g.142989780G>A	ENSP00000312664:p.Arg155His	Somatic		Capture	Illumina HiSeq	Phase_I	142699902	NM_032982	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	g	13.99	2.401779	0.42613	6.81E-4	1.16E-4	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.57273	4.45;0.41	5.78	3.0	0.34707	.	0.786045	0.12523	N	0.461449	T	0.34629	0.0904	N	0.20401	0.57	0.24442	N	0.994522	B	0.25521	0.128	B	0.14023	0.01	T	0.15607	-1.0431	10	0.32370	T	0.25	.	9.6468	0.39872	0.2275:0.0:0.7725:0.0	.	155	P42575	CASP2_HUMAN	H	155;155;124	ENSP00000312664:R155H;ENSP00000376656:R155H	ENSP00000312664:R155H	R	+	2	0	CASP2	142699902	1.000000	0.71417	0.996000	0.52242	0.880000	0.50808	2.812000	0.47994	0.813000	0.34350	-0.143000	0.13931	CGC		0.532	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982	
FAM131B	9715	broad.mit.edu	37	7	143054389	143054389	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:143054389T>G	ENST00000409408.1	-	5	2218	c.510A>C	c.(508-510)gaA>gaC	p.E170D	FAM131B_ENST00000443739.2_Missense_Mutation_p.E198D|FAM131B_ENST00000409222.3_Missense_Mutation_p.E170D|FAM131B_ENST00000409346.1_Missense_Mutation_p.E170D|FAM131B_ENST00000409578.1_Missense_Mutation_p.E186D			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	170								p.E170D(1)|p.E198D(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGTCCATCAGTTCCTGGTAGT	0.537																																					p.E198D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A594C	7						.						187.0	164.0	172.0					7																	143054389		2203	4300	6503	142764511	SO:0001583	missense	9715	exon6			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.510A>C	7.37:g.143054389T>G	ENSP00000387017:p.Glu170Asp	Somatic		Capture	Illumina HiSeq	Phase_I	142764511	NM_001031690	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351296	0.41700	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.67	1.86	0.25419	.	0.107338	0.64402	D	0.000001	T	0.32823	0.0842	L	0.33485	1.01	0.43122	D	0.994841	D;D	0.71674	0.996;0.998	D;D	0.77557	0.986;0.99	T	0.02632	-1.1131	10	0.19590	T	0.45	-3.4839	10.24	0.43305	0.0:0.6586:0.0:0.3414	.	186;170	Q86XD5-2;Q86XD5	.;F131B_HUMAN	D	198;186;170;174;170;170	ENSP00000410603:E198D;ENSP00000386568:E186D;ENSP00000386984:E170D;ENSP00000387017:E170D;ENSP00000387147:E170D	ENSP00000387147:E170D	E	-	3	2	FAM131B	142764511	0.958000	0.32768	0.798000	0.32154	0.680000	0.39746	0.277000	0.18734	0.327000	0.23409	-0.479000	0.04858	GAA		0.537	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690	
FAM115C	285966	broad.mit.edu	37	7	143417140	143417140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:143417140G>A	ENST00000441159.2	+	3	1054	c.988G>A	c.(988-990)Gac>Aac	p.D330N	FAM115C_ENST00000409703.3_Missense_Mutation_p.D166N|FAM115C_ENST00000357344.4_Missense_Mutation_p.D330N|FAM115C_ENST00000425618.2_Missense_Mutation_p.D49N|FAM115C_ENST00000411935.1_Missense_Mutation_p.D166N|FAM115C_ENST00000411497.2_Missense_Mutation_p.D49N|FAM115C_ENST00000444908.2_Missense_Mutation_p.D330N			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	330					hematopoietic progenitor cell differentiation (GO:0002244)			p.D330N(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TCTGAACAGCGACTTGTGTGT	0.567																																					p.D166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	7						.						53.0	55.0	54.0					7																	143417140		2138	4285	6423	143048073	SO:0001583	missense	285966	exon2			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.988G>A	7.37:g.143417140G>A	ENSP00000404265:p.Asp330Asn	Somatic		Capture	Illumina HiSeq	Phase_I	143048073	NM_001130026	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	3.132|3.132	-0.178141|-0.178141	0.06380|0.06380	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618|ENST00000518791	T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0|.	3.58|3.58	1.7|1.7	0.24286|0.24286	.|.	0.739470|.	0.14199|.	N|.	0.334809|.	T|T	0.45677|0.45677	0.1354|0.1354	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.31040|.	0.305;0.066;0.254;0.109|.	B;B;B;B|.	0.27170|.	0.07;0.035;0.062;0.077|.	T|T	0.33675|0.33675	-0.9859|-0.9859	10|5	0.48119|.	T|.	0.1|.	-13.4855|-13.4855	8.9396|8.9396	0.35722|0.35722	0.0946:0.0:0.7558:0.1497|0.0946:0.0:0.7558:0.1497	.|.	166;330;49;330|.	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2|.	.;F115C_HUMAN;.;.|.	N|Q	330;49;330;330;166;166;49|144	ENSP00000412724:D330N;ENSP00000349902:D330N;ENSP00000404265:D330N;ENSP00000389100:D166N;ENSP00000386405:D166N|.	ENSP00000349902:D330N|.	D|R	+|+	1|2	0|0	FAM115C|FAM115C	143048073|143048073	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	2.367000|2.367000	0.44213|0.44213	0.003000|0.003000	0.14656|0.14656	-2.799000|-2.799000	0.00114|0.00114	GAC|CGA		0.567	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678	
CTAGE6	340307	broad.mit.edu	37	7	143453658	143453658	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:143453658G>T	ENST00000470691.2	-	1	1131	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	365						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TGATTGCAAAGATTCTTGTTG	0.308																																					p.S365Y												.	.	0			c.C1094A	7						.						35.0	28.0	30.0					7																	143453658		1861	4085	5946	143084591	SO:0001583	missense	340307	exon1			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1094C>A	7.37:g.143453658G>T	ENSP00000474388:p.Ser365Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	143084591	NM_178561	A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.308	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561	
DGKB	1607	broad.mit.edu	37	7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CGATGGCTTCGTCTTTTCTTA	0.398																																					p.R681X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.C2041T	7						.						173.0	157.0	162.0					7																	14378224		1861	4099	5960	14344749	SO:0001587	stop_gained	1607	exon22			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2041C>T	7.37:g.14378224G>A	ENSP00000385780:p.Arg681*	Somatic		Capture	Illumina HiSeq	Phase_I	14344749	NM_004080	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.316506	0.98757	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.5	-0.408	0.12381	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4311	0.87539	0.0:0.0:0.2508:0.7492	.	.	.	.	X	681;681;681;680;673;662;681	.	ENSP00000258767:R681X	R	-	1	2	DGKB	14344749	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	0.877000	0.28106	-0.425000	0.07371	0.650000	0.86243	CGA		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
OR6B1	135946	broad.mit.edu	37	7	143701446	143701446	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:143701446C>A	ENST00000408922.2	+	1	425	c.357C>A	c.(355-357)gcC>gcA	p.A119A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCGCCATGGCCTATGACCGGT	0.527																																					p.A119A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357A	7						.						108.0	112.0	111.0					7																	143701446		2169	4287	6456	143332379	SO:0001819	synonymous_variant	135946	exon1				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.357C>A	7.37:g.143701446C>A		Somatic		Capture	Illumina HiSeq	Phase_I	143332379	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	CCDS43667.1																																																																																				0.527	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
CNTNAP2	26047	broad.mit.edu	37	7	148106556	148106556	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148106556C>A	ENST00000361727.3	+	23	4305	c.3789C>A	c.(3787-3789)atC>atA	p.I1263I	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.I322I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1263					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.I1263I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCGGCTATCATTGGAGGTA	0.403										HNSCC(39;0.1)																											p.I1263I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3789A	7						.						78.0	77.0	78.0					7																	148106556		2203	4300	6503	147737489	SO:0001819	synonymous_variant	26047	exon23			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3789C>A	7.37:g.148106556C>A		Somatic		Capture	Illumina HiSeq	Phase_I	147737489	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
CUL1	8454	broad.mit.edu	37	7	148487509	148487509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148487509C>A	ENST00000325222.4	+	16	2061	c.1782C>A	c.(1780-1782)tgC>tgA	p.C594*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.C594*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.C594*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	594					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.C594*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TAACTAACTGCTTCAAAAACA	0.353																																					p.C594X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1782A	7						.						79.0	76.0	77.0					7																	148487509		2203	4300	6503	148118442	SO:0001587	stop_gained	8454	exon16			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1782C>A	7.37:g.148487509C>A	ENSP00000326804:p.Cys594*	Somatic		Capture	Illumina HiSeq	Phase_I	148118442	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	41	8.719089	0.98927	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	.	.	.	5.07	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-27.0081	7.3606	0.26744	0.0:0.6798:0.0:0.3201	.	.	.	.	X	594;594;552;521	.	ENSP00000326804:C594X	C	+	3	2	CUL1	148118442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.438000	0.44837	1.065000	0.40693	0.655000	0.94253	TGC		0.353	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
CUL1	8454	broad.mit.edu	37	7	148495098	148495098	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148495098C>A	ENST00000325222.4	+	19	2296	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	CUL1_ENST00000602748.1_Missense_Mutation_p.L673I|CUL1_ENST00000409469.1_Missense_Mutation_p.L673I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	673					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.L673I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAAATTATATCTTGGTTATAA	0.373																																					p.L673I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2017A	7						.						28.0	29.0	29.0					7																	148495098		2203	4299	6502	148126031	SO:0001583	missense	8454	exon19			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2017C>A	7.37:g.148495098C>A	ENSP00000326804:p.Leu673Ile	Somatic		Capture	Illumina HiSeq	Phase_I	148126031	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	.	14.88	2.667792	0.47677	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.74209	-0.82;-0.82	5.02	5.02	0.67125	Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (1);	0.063427	0.64402	D	0.000004	T	0.74419	0.3714	L	0.59436	1.845	0.80722	D	1	B;B	0.22541	0.015;0.071	B;B	0.34590	0.055;0.186	T	0.69243	-0.5196	10	0.19147	T	0.46	-11.163	17.339	0.87291	0.0:1.0:0.0:0.0	.	600;673	E7EWR0;Q13616	.;CUL1_HUMAN	I	673;673;600	ENSP00000387160:L673I;ENSP00000326804:L673I	ENSP00000326804:L673I	L	+	1	0	CUL1	148126031	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.644000	0.61397	2.328000	0.79073	0.462000	0.41574	CTT		0.373	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
EZH2	2146	broad.mit.edu	37	7	148525950	148525950	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148525950T>G	ENST00000460911.1	-	6	595	c.507A>C	c.(505-507)gaA>gaC	p.E169D	EZH2_ENST00000476773.1_Missense_Mutation_p.E160D|EZH2_ENST00000541220.1_Missense_Mutation_p.E160D|EZH2_ENST00000478654.1_Missense_Mutation_p.E160D|EZH2_ENST00000536783.1_Missense_Mutation_p.E60D|EZH2_ENST00000320356.2_Missense_Mutation_p.E169D|EZH2_ENST00000483967.1_Missense_Mutation_p.E160D|EZH2_ENST00000350995.2_Missense_Mutation_p.E130D			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	169	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E130D(1)|p.E169D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCACAAAAATTTCATCATTTA	0.363			Mis		DLBCL																																p.E130D			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A390C	7						.						116.0	96.0	103.0					7																	148525950		2203	4300	6503	148156883	SO:0001583	missense	2146	exon5				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.507A>C	7.37:g.148525950T>G	ENSP00000419711:p.Glu169Asp	Somatic		Capture	Illumina HiSeq	Phase_I	148156883	NM_152998	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967268	0.53507	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.6	-0.61	0.11604	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	L	0.46157	1.445	0.53005	D	0.99996	P;B;B;B;B;B	0.48911	0.917;0.38;0.023;0.262;0.38;0.047	P;B;B;B;B;B	0.46685	0.524;0.197;0.062;0.09;0.258;0.059	T	0.67696	-0.5604	10	0.33141	T	0.24	.	12.2268	0.54465	0.0:0.6274:0.0:0.3726	.	169;160;160;169;130;169	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	D	160;169;169;130;160;160;160;60	ENSP00000417062:E160D;ENSP00000320147:E169D;ENSP00000419711:E169D;ENSP00000223193:E130D;ENSP00000443219:E160D;ENSP00000419050:E160D;ENSP00000419856:E160D;ENSP00000439305:E60D	ENSP00000320147:E169D	E	-	3	2	EZH2	148156883	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.606000	0.36826	-0.122000	0.11766	0.482000	0.46254	GAA		0.363	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
PDIA4	9601	broad.mit.edu	37	7	148700994	148700994	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148700994G>A	ENST00000286091.4	-	10	2062	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	610	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.D610D(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGTTCTTTTTGTCCCCACTGG	0.532																																					p.D610D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1830T	7						.						71.0	72.0	72.0					7																	148700994		2203	4300	6503	148331927	SO:0001819	synonymous_variant	9601	exon10			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1830C>T	7.37:g.148700994G>A		Somatic		Capture	Illumina HiSeq	Phase_I	148331927	NM_004911	A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	CCDS5893.1																																																																																				0.532	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
ZNF425	155054	broad.mit.edu	37	7	148801628	148801628	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:148801628C>T	ENST00000378061.2	-	4	1467	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	445					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P445P(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGCACTCCGGGCACTGGA	0.632																																					p.P445P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1335A	7						.						36.0	38.0	37.0					7																	148801628		2203	4300	6503	148432561	SO:0001819	synonymous_variant	155054	exon4			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1335G>A	7.37:g.148801628C>T		Somatic		Capture	Illumina HiSeq	Phase_I	148432561	NM_001001661	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.632	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
LRRC61	65999	broad.mit.edu	37	7	150034254	150034254	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150034254C>T	ENST00000359623.4	+	3	892	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	LRRC61_ENST00000493307.1_Missense_Mutation_p.L102F|LRRC61_ENST00000323078.7_Missense_Mutation_p.L102F	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	102								p.L102F(1)		endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTTGCAGAGTCTCAATGCCGC	0.657																																					p.L102F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304T	7						.						36.0	36.0	36.0					7																	150034254		2203	4300	6503	149665187	SO:0001583	missense	65999	exon2			BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.304C>T	7.37:g.150034254C>T	ENSP00000352642:p.Leu102Phe	Somatic		Capture	Illumina HiSeq	Phase_I	149665187	NM_023942	B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852614	0.71719	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.62105	0.05;0.05;0.05	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000006	T	0.81064	0.4745	M	0.85777	2.775	0.58432	D	0.999998	D	0.71674	0.998	D	0.83275	0.996	D	0.84091	0.0390	10	0.62326	D	0.03	-18.0532	15.8028	0.78468	0.0:1.0:0.0:0.0	.	102	Q9BV99	LRC61_HUMAN	F	102	ENSP00000339047:L102F;ENSP00000352642:L102F;ENSP00000420560:L102F	ENSP00000339047:L102F	L	+	1	0	LRRC61	149665187	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	3.722000	0.54948	2.326000	0.78906	0.485000	0.47835	CTC		0.657	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942	
GIMAP7	168537	broad.mit.edu	37	7	150217753	150217753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150217753G>T	ENST00000313543.4	+	2	848	c.691G>T	c.(691-693)Gaa>Taa	p.E231*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	231					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.E231*(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTAAATGAAGAAATTAAACT	0.303																																					p.E231X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G691T	7						.						53.0	55.0	54.0					7																	150217753		2203	4300	6503	149848686	SO:0001587	stop_gained	168537	exon2			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.691G>T	7.37:g.150217753G>T	ENSP00000315474:p.Glu231*	Somatic		Capture	Illumina HiSeq	Phase_I	149848686	NM_153236		Nonsense_Mutation	SNP	ENST00000313543.4	37	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164571	0.57476	.	.	ENSG00000179144	ENST00000313543	.	.	.	4.95	-1.17	0.09648	.	0.950439	0.08706	N	0.905663	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.5196	0.11952	0.3408:0.2909:0.3683:0.0	.	.	.	.	X	231	.	ENSP00000315474:E231X	E	+	1	0	GIMAP7	149848686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.518000	0.06267	-0.439000	0.07222	-0.878000	0.02970	GAA		0.303	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236	
GIMAP6	474344	broad.mit.edu	37	7	150324966	150324966	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150324966C>A	ENST00000328902.5	-	3	936	c.720G>T	c.(718-720)caG>caT	p.Q240H	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	240	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.Q240H(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAAGTTTTGCTGGGTATATT	0.507																																					p.Q240H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G720T	7						.						157.0	143.0	148.0					7																	150324966		2203	4300	6503	149955899	SO:0001583	missense	474344	exon3			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.720G>T	7.37:g.150324966C>A	ENSP00000330374:p.Gln240His	Somatic		Capture	Illumina HiSeq	Phase_I	149955899	NM_024711	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737716	0.30774	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06294	3.32	4.05	3.15	0.36227	AIG1 (1);	0.569685	0.17268	N	0.180502	T	0.12732	0.0309	L	0.37850	1.14	0.80722	D	1	B;D	0.76494	0.034;0.999	B;P	0.61940	0.038;0.896	T	0.02813	-1.1107	10	0.54805	T	0.06	.	9.5573	0.39346	0.0:0.7855:0.2145:0.0	.	240;160	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	H	240;301	ENSP00000330374:Q240H	ENSP00000330374:Q240H	Q	-	3	2	GIMAP6	149955899	0.048000	0.20356	0.010000	0.14722	0.006000	0.05464	2.248000	0.43160	0.899000	0.36444	0.655000	0.94253	CAG		0.507	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
GIMAP6	474344	broad.mit.edu	37	7	150325095	150325095	+	Silent	SNP	G	G	A	rs561097678		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150325095G>A	ENST00000328902.5	-	3	807	c.591C>T	c.(589-591)tgC>tgT	p.C197C	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	197	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.C197C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTGAAGCCGCAATGGCGCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18922	0.0		0.0	False		,,,				2504	0.0				p.C197C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	7						.						115.0	121.0	119.0					7																	150325095		2203	4300	6503	149956028	SO:0001819	synonymous_variant	474344	exon3			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.591C>T	7.37:g.150325095G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149956028	NM_024711	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	CCDS34778.1																																																																																				0.572	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
GIMAP6	474344	broad.mit.edu	37	7	150325438	150325438	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150325438C>A	ENST00000328902.5	-	3	464	c.248G>T	c.(247-249)aGc>aTc	p.S83I	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	83	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.S83I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACTCTCGGCTCCGTCTCTG	0.592																																					p.S83I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248T	7						.						129.0	133.0	132.0					7																	150325438		2203	4300	6503	149956371	SO:0001583	missense	474344	exon3			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.248G>T	7.37:g.150325438C>A	ENSP00000330374:p.Ser83Ile	Somatic		Capture	Illumina HiSeq	Phase_I	149956371	NM_024711	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180157	0.38511	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.07021	3.23	4.29	0.0989	0.14500	AIG1 (1);	0.862111	0.10696	N	0.644607	T	0.10551	0.0258	L	0.49126	1.545	0.09310	N	1	P	0.37636	0.603	B	0.41764	0.366	T	0.27872	-1.0061	10	0.42905	T	0.14	.	8.4677	0.32966	0.1631:0.3588:0.4781:0.0	.	83	Q6P9H5	GIMA6_HUMAN	I	83;144	ENSP00000330374:S83I	ENSP00000330374:S83I	S	-	2	0	GIMAP6	149956371	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.390000	0.01057	-0.171000	0.10797	0.561000	0.74099	AGC		0.592	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
GIMAP1	170575	broad.mit.edu	37	7	150417542	150417542	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150417542C>A	ENST00000307194.5	+	3	590	c.450C>A	c.(448-450)gtC>gtA	p.V150V		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	150	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.V150V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTCATCGTCTTCACCAGGA	0.647																																					p.V150V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450A	7						.						65.0	64.0	64.0					7																	150417542		2203	4300	6503	150048475	SO:0001819	synonymous_variant	170575	exon3			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.450C>A	7.37:g.150417542C>A		Somatic		Capture	Illumina HiSeq	Phase_I	150048475	NM_130759	B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	CCDS5906.1																																																																																				0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759	
TMEM176B	28959	broad.mit.edu	37	7	150489175	150489175	+	Missense_Mutation	SNP	C	C	T	rs376451849		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150489175C>T	ENST00000447204.2	-	6	1061	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	TMEM176B_ENST00000492607.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R193Q|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R230Q|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R230Q	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	230					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R230Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAAGTTTCGAAGACCTAC	0.567																																					p.R230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	7						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	136.0	112.0	120.0		689,689,578,689	-0.3	0.0	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	230/271,230/271,193/234,230/271	150489175	1,13005	2203	4300	6503	150120108	SO:0001583	missense	28959	exon6			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.689G>A	7.37:g.150489175C>T	ENSP00000410269:p.Arg230Gln	Somatic		Capture	Illumina HiSeq	Phase_I	150120108	NM_014020	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	2.938	-0.219631	0.06061	0.0	1.16E-4	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.09445	3.12;3.12;3.12;3.12;3.12;2.98	3.66	-0.281	0.12882	.	2.199730	0.03727	N	0.252782	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	P;P	0.43519	0.809;0.809	B;B	0.25405	0.06;0.06	T	0.37820	-0.9689	10	0.25751	T	0.34	0.0	6.3121	0.21171	0.0:0.5304:0.0:0.4696	.	193;230	E9PAV4;Q3YBM2	.;T176B_HUMAN	Q	230;230;230;230;230;193;230	ENSP00000419258:R230Q;ENSP00000318409:R230Q;ENSP00000410269:R230Q;ENSP00000413531:R230Q;ENSP00000397810:R230Q;ENSP00000404831:R193Q	ENSP00000318409:R230Q	R	-	2	0	TMEM176B	150120108	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.169000	0.09911	-0.190000	0.10465	0.563000	0.77884	CGA		0.567	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
ABCB8	11194	broad.mit.edu	37	7	150742341	150742341	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150742341G>A	ENST00000297504.6	+	17	2179	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	ABCB8_ENST00000542328.1_Missense_Mutation_p.E600K|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.E663K|ABCB8_ENST00000358849.4_Missense_Mutation_p.E688K			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	705	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E688K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GCTATACGCCGAGCTCATCCG	0.627																																					p.E688K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2062A	7						.						63.0	59.0	61.0					7																	150742341		2203	4300	6503	150373274	SO:0001583	missense	11194	exon16			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2113G>A	7.37:g.150742341G>A	ENSP00000297504:p.Glu705Lys	Somatic		Capture	Illumina HiSeq	Phase_I	150373274	NM_007188	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	g	7.589	0.670397	0.14776	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;T	0.82255	-1.59;-1.59;-1.59;0.01	4.4	4.4	0.53042	ABC transporter-like (1);	0.128251	0.53938	D	0.000052	T	0.68504	0.3008	N	0.16862	0.45	0.80722	D	1	B;B;B;B	0.31100	0.244;0.308;0.274;0.244	B;B;B;B	0.28849	0.065;0.044;0.079;0.095	T	0.65598	-0.6129	10	0.19147	T	0.46	-0.2159	12.6627	0.56824	0.0:0.0:1.0:0.0	.	600;663;705;688	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	K	688;671;705;600;663	ENSP00000351717:E688K;ENSP00000297504:E705K;ENSP00000438776:E600K;ENSP00000418271:E663K	ENSP00000297504:E705K	E	+	1	0	ABCB8	150373274	1.000000	0.71417	0.936000	0.37596	0.164000	0.22412	5.182000	0.65059	2.426000	0.82243	0.457000	0.33378	GAG		0.627	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	
ASIC3	9311	broad.mit.edu	37	7	150748981	150748981	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150748981G>A	ENST00000349064.5	+	7	1497	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	ASIC3_ENST00000297512.8_Silent_p.E433E|ASIC3_ENST00000357922.4_Silent_p.E433E	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	433					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.E433E(2)									AGATGTCAGAGCTGCTTGGTG	0.592																																					p.E433E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1299A	7						.						99.0	91.0	94.0					7																	150748981		2203	4300	6503	150379914	SO:0001819	synonymous_variant	9311	exon7			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1299G>A	7.37:g.150748981G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150379914	NM_020321	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.680610	0.29872	.	.	ENSG00000213199	ENST00000485929	.	.	.	4.7	-4.87	0.03123	.	.	.	.	.	T	0.07007	0.0178	.	.	.	0.23886	N	0.996565	.	.	.	.	.	.	T	0.33343	-0.9872	5	0.05351	T	0.99	-9.3487	1.2138	0.01910	0.4315:0.1071:0.2167:0.2447	.	.	.	.	N	59	.	ENSP00000367136:S384N	S	+	2	0	ACCN3	150379914	0.000000	0.05858	0.070000	0.20053	0.016000	0.09150	-0.819000	0.04462	-0.530000	0.06349	-0.224000	0.12420	AGC		0.592	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769	
SMARCD3	6604	broad.mit.edu	37	7	150939642	150939642	+	Silent	SNP	C	C	T	rs200087546		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:150939642C>T	ENST00000262188.8	-	5	914	c.504G>A	c.(502-504)gcG>gcA	p.A168A	SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000356800.2_Silent_p.A155A|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Silent_p.A155A	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A155A(3)|p.A168A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGCTTCGCAGGGTTAA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19639	0.0		0.0	False		,,,				2504	0.001				p.A155A												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.G465A	7						.						111.0	119.0	116.0					7																	150939642		2203	4300	6503	150570575	SO:0001819	synonymous_variant	6604	exon6			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.504G>A	7.37:g.150939642C>T		Somatic		Capture	Illumina HiSeq	Phase_I	150570575	NM_003078	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	CCDS34780.1																																																																																				0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
PRKAG2	51422	broad.mit.edu	37	7	151372617	151372617	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:151372617G>T	ENST00000287878.4	-	4	1077	c.573C>A	c.(571-573)atC>atA	p.I191I	PRKAG2_ENST00000461529.1_5'Flank|PRKAG2_ENST00000433631.2_Silent_p.I67I|PRKAG2_ENST00000392801.2_Silent_p.I147I|PRKAG2_ENST00000492843.1_Silent_p.I67I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	191					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.I191I(2)|p.I67I(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	ACGAGGCATAGATGCGATTCT	0.592																																					p.I191I												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.C573A	7						.						125.0	107.0	113.0					7																	151372617		2203	4300	6503	151003550	SO:0001819	synonymous_variant	51422	exon4			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.573C>A	7.37:g.151372617G>T		Somatic		Capture	Illumina HiSeq	Phase_I	151003550	NM_016203	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	CCDS5928.1																																																																																				0.592	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
PRKAG2	51422	broad.mit.edu	37	7	151478358	151478358	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:151478358G>A	ENST00000287878.4	-	3	850	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.R72C	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	116					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R116C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CGAGGGGAGCGTGGCGGGGAC	0.652																																					p.R116C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C346T	7						.						66.0	67.0	67.0					7																	151478358		2203	4300	6503	151109291	SO:0001583	missense	51422	exon3			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.346C>T	7.37:g.151478358G>A	ENSP00000287878:p.Arg116Cys	Somatic		Capture	Illumina HiSeq	Phase_I	151109291	NM_016203	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576808	0.45902	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89415	-2.11;-2.51	5.1	4.12	0.48240	.	0.068626	0.53938	D	0.000044	D	0.90689	0.7079	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.85130	0.997;0.828	D	0.92012	0.5619	10	0.87932	D	0	.	15.3808	0.74654	0.0:0.0:0.8513:0.1487	.	116;116	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	C	116;72	ENSP00000287878:R116C;ENSP00000376549:R72C	ENSP00000287878:R116C	R	-	1	0	PRKAG2	151109291	1.000000	0.71417	0.765000	0.31456	0.339000	0.28857	5.253000	0.65452	2.363000	0.80096	0.563000	0.77884	CGC		0.652	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
GALNTL5	168391	broad.mit.edu	37	7	151716785	151716785	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:151716785C>T	ENST00000392800.2	+	9	1485	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411C	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	411					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423																																					p.R411C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1231T	7						.						111.0	107.0	108.0					7																	151716785		2203	4300	6503	151347718	SO:0001583	missense	168391	exon9			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1231C>T	7.37:g.151716785C>T	ENSP00000376548:p.Arg411Cys	Somatic		Capture	Illumina HiSeq	Phase_I	151347718	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378356	0.11466	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.29397	1.57;1.57	4.91	3.75	0.43078	.	0.461817	0.20658	N	0.088078	T	0.24774	0.0601	L	0.39245	1.2	0.09310	N	1	P;B	0.35493	0.505;0.23	B;B	0.35550	0.205;0.083	T	0.16012	-1.0417	10	0.87932	D	0	.	8.7063	0.34356	0.8032:0.1968:0.0:0.0	.	162;411	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	C	411	ENSP00000392582:R411C;ENSP00000376548:R411C	ENSP00000376548:R411C	R	+	1	0	GALNTL5	151347718	0.259000	0.24043	0.003000	0.11579	0.001000	0.01503	1.930000	0.40124	0.880000	0.35969	-0.275000	0.10095	CGC		0.423	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	
GALNT11	63917	broad.mit.edu	37	7	151791514	151791514	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:151791514G>A	ENST00000434507.1	+	4	639	c.202G>A	c.(202-204)Gag>Aag	p.E68K	GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.E68K|GALNT11_ENST00000320311.2_Missense_Mutation_p.E68K|GALNT11_ENST00000422997.2_Missense_Mutation_p.E68K|GALNT11_ENST00000415421.1_Missense_Mutation_p.E68K|GALNT11_ENST00000482812.1_3'UTR			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	68					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E68K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCGAGTGCTCGAGCCACAGTT	0.473																																					p.E68K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	7						.						80.0	84.0	82.0					7																	151791514		2203	4300	6503	151422447	SO:0001583	missense	63917	exon2			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.202G>A	7.37:g.151791514G>A	ENSP00000416787:p.Glu68Lys	Somatic		Capture	Illumina HiSeq	Phase_I	151422447	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883538	0.51908	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.66	5.66	0.87406	.	3.225150	0.00639	N	0.000520	T	0.34803	0.0910	L	0.43923	1.385	0.41810	D	0.989966	B;B	0.23540	0.087;0.007	B;B	0.11329	0.006;0.003	T	0.49447	-0.8939	10	0.08381	T	0.77	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	68;68	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	K	68	ENSP00000395122:E68K;ENSP00000395020:E68K;ENSP00000414890:E68K;ENSP00000393892:E68K;ENSP00000416787:E68K;ENSP00000410093:E68K;ENSP00000315835:E68K;ENSP00000397581:E68K;ENSP00000412142:E68K;ENSP00000389449:E68K	ENSP00000315835:E68K	E	+	1	0	GALNT11	151422447	0.996000	0.38824	0.433000	0.26760	0.368000	0.29767	3.090000	0.50191	2.671000	0.90904	0.563000	0.77884	GAG		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
AGMO	392636	broad.mit.edu	37	7	15427042	15427042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:15427042C>A	ENST00000342526.3	-	9	1115	c.946G>T	c.(946-948)Gaa>Taa	p.E316*		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	316					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.E316*(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGGAATTTCTTCACTGAGA	0.438																																					p.E316X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G946T	7						.						134.0	129.0	131.0					7																	15427042		2203	4300	6503	15393567	SO:0001587	stop_gained	392636	exon9				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.946G>T	7.37:g.15427042C>A	ENSP00000341662:p.Glu316*	Somatic		Capture	Illumina HiSeq	Phase_I	15393567	NM_001004320	A4D114|A6NCH5	Nonsense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	39	7.776517	0.98483	.	.	ENSG00000187546	ENST00000342526	.	.	.	5.52	5.52	0.82312	.	0.279247	0.39274	N	0.001415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-13.256	19.4557	0.94886	0.0:1.0:0.0:0.0	.	.	.	.	X	316	.	ENSP00000341662:E316X	E	-	1	0	AGMO	15393567	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.130000	0.71663	2.599000	0.87857	0.655000	0.94253	GAA		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
AGMO	392636	broad.mit.edu	37	7	15458214	15458214	+	Missense_Mutation	SNP	T	T	G	rs575378151		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:15458214T>G	ENST00000342526.3	-	5	747	c.578A>C	c.(577-579)aAt>aCt	p.N193T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	193					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.N193T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTAAAGAAGATTGAATTGAAG	0.328																																					p.N193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A578C	7						.						38.0	46.0	43.0					7																	15458214		2200	4291	6491	15424739	SO:0001583	missense	392636	exon5				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.578A>C	7.37:g.15458214T>G	ENSP00000341662:p.Asn193Thr	Somatic		Capture	Illumina HiSeq	Phase_I	15424739	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627482	0.66901	.	.	ENSG00000187546	ENST00000342526	D	0.84146	-1.81	5.8	3.34	0.38264	Fatty acid hydroxylase (1);	0.099910	0.64402	N	0.000003	D	0.91054	0.7185	M	0.83312	2.635	0.48135	D	0.999592	D	0.69078	0.997	D	0.74023	0.982	D	0.90572	0.4523	10	0.72032	D	0.01	-19.5782	8.7942	0.34870	0.0:0.0671:0.1272:0.8057	.	193	Q6ZNB7	ALKMO_HUMAN	T	193	ENSP00000341662:N193T	ENSP00000341662:N193T	N	-	2	0	AGMO	15424739	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.968000	0.49224	0.976000	0.38417	0.482000	0.46254	AAT		0.328	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
KMT2C	58508	broad.mit.edu	37	7	151846091	151846091	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:151846091G>A	ENST00000262189.6	-	52	13139	c.12921C>T	c.(12919-12921)atC>atT	p.I4307I	KMT2C_ENST00000355193.2_Silent_p.I4364I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4307					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I4307I(2)|p.I4364I(2)									GAGGGAAGGCGATGGGTGGTG	0.552																																					p.I4307I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C12921T	7						.						53.0	48.0	50.0					7																	151846091		2203	4300	6503	151477024	SO:0001819	synonymous_variant	58508	exon52			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12921C>T	7.37:g.151846091G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151477024	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.745259	0.00675	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.52	-0.973	0.10297	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.28927	N	0.891787	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	.	5.7771	0.18285	0.3744:0.0:0.4192:0.2064	.	.	.	.	C	1868	.	.	R	-	1	0	MLL3	151477024	0.919000	0.31177	0.000000	0.03702	0.029000	0.11900	0.896000	0.28377	-0.098000	0.12285	-0.143000	0.13931	CGC		0.552	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
DPP6	1804	broad.mit.edu	37	7	154679436	154679436	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:154679436G>A	ENST00000377770.3	+	23	2437	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	DPP6_ENST00000332007.3_Missense_Mutation_p.A704T|DPP6_ENST00000404039.1_Missense_Mutation_p.A702T|DPP6_ENST00000427557.1_Missense_Mutation_p.A659T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	766					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A702T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGACAACAGAGCATACGAGGT	0.577																																					p.A702T	NSCLC(125;1384 1783 2490 7422 34254)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2104A	7						.						209.0	221.0	217.0					7																	154679436		2115	4232	6347	154310369	SO:0001583	missense	1804	exon23			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2296G>A	7.37:g.154679436G>A	ENSP00000367001:p.Ala766Thr	Somatic		Capture	Illumina HiSeq	Phase_I	154310369	NM_001039350		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	G	15.43	2.830278	0.50845	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.65	4.65	0.58169	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.113586	0.64402	D	0.000017	T	0.46112	0.1376	M	0.62088	1.915	0.46458	D	0.999059	P;D;D;D	0.69078	0.553;0.996;0.969;0.997	B;P;P;P	0.57371	0.392;0.648;0.819;0.761	T	0.34179	-0.9839	10	0.17832	T	0.49	-18.1841	17.5478	0.87867	0.0:0.0:1.0:0.0	.	659;704;766;702	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	702;766;704;659	ENSP00000385578:A702T;ENSP00000367001:A766T;ENSP00000328226:A704T;ENSP00000397303:A659T	ENSP00000328226:A704T	A	+	1	0	DPP6	154310369	1.000000	0.71417	0.981000	0.43875	0.339000	0.28857	7.861000	0.87004	2.126000	0.65437	0.563000	0.77884	GCA		0.577	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
RBM33	155435	broad.mit.edu	37	7	155534569	155534569	+	Silent	SNP	G	G	A	rs369632582		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:155534569G>A	ENST00000401878.3	+	13	2304	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	702							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A702A(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCCACTGCGCCAAGGAACA	0.478																																					p.A702A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2106A	7						.						110.0	110.0	110.0					7																	155534569		2203	4300	6503	155227330	SO:0001819	synonymous_variant	155435	exon13			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2106G>A	7.37:g.155534569G>A		Somatic		Capture	Illumina HiSeq	Phase_I	155227330	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	7.041	0.562468	0.13498	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.76	-2.98	0.05513	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28744	-1.0034	4	.	.	.	.	2.2364	0.04009	0.1058:0.1912:0.337:0.3661	.	.	.	.	H	474	.	.	R	+	2	0	RBM33	155227330	0.168000	0.22989	0.367000	0.25926	0.552000	0.35366	-0.573000	0.05874	-0.794000	0.04468	-1.482000	0.00985	CGC		0.478	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	
MEOX2	4223	broad.mit.edu	37	7	15652183	15652183	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:15652183T>C	ENST00000262041.5	-	3	1153	c.744A>G	c.(742-744)ggA>ggG	p.G248G		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	248					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.G248G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTCCTTGCTGTCCACCCTTTA	0.483																																					p.G248G	Esophageal Squamous(140;197 1769 16409 18257 29929)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A744G	7						.						135.0	132.0	133.0					7																	15652183		2203	4300	6503	15618708	SO:0001819	synonymous_variant	4223	exon3				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.744A>G	7.37:g.15652183T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15618708	NM_005924	B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	CCDS34605.1																																																																																				0.483	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924	
RNF32	140545	broad.mit.edu	37	7	156468481	156468481	+	Missense_Mutation	SNP	G	G	A	rs79950079	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:156468481G>A	ENST00000405335.1	+	9	1185	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RNF32_ENST00000432459.2_Missense_Mutation_p.R259Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R259Q|RNF32_ENST00000311822.8_Missense_Mutation_p.R259Q|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Missense_Mutation_p.R259Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R235Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	259						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.R259Q(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCCATAAATCGAAGTGTTCTT	0.478													G|||	87	0.0173722	0.0643	0.0029	5008	,	,		19322	0.0		0.0	False		,,,				2504	0.0				p.R259Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G776A	7						.	G	GLN/ARG,GLN/ARG,GLN/ARG	268,4138	151.8+/-185.6	6,256,1941	156.0	149.0	151.0		776,776,776	5.2	0.0	7	dbSNP_131	151	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense	RNF32	NM_001184996.1,NM_001184997.1,NM_030936.3	43,43,43	6,259,6238	AA,AG,GG		0.0349,6.0826,2.0837	probably-damaging,probably-damaging,probably-damaging	259/363,259/363,259/363	156468481	271,12735	2203	4300	6503	156161242	SO:0001583	missense	140545	exon8				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.776G>A	7.37:g.156468481G>A	ENSP00000385285:p.Arg259Gln	Somatic		Capture	Illumina HiSeq	Phase_I	156161242	NM_001184996	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	25	0.011446886446886446	25	0.0508130081300813	0	0.0	0	0.0	0	0.0	G	13.78	2.338535	0.41398	0.060826	3.49E-4	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.36340	1.99;1.99;1.99;1.26;1.99;1.7	5.22	5.22	0.72569	.	0.055908	0.64402	D	0.000002	T	0.09291	0.0229	M	0.82630	2.6	0.44843	D	0.997855	D;D	0.71674	0.991;0.998	P;P	0.48488	0.543;0.579	T	0.23726	-1.0180	10	0.62326	D	0.03	-21.4305	12.8115	0.57641	0.0795:0.0:0.9205:0.0	.	259;259	G5E940;Q9H0A6	.;RNF32_HUMAN	Q	259;259;259;259;259;235	ENSP00000405588:R259Q;ENSP00000315950:R259Q;ENSP00000385285:R259Q;ENSP00000308894:R259Q;ENSP00000376499:R259Q;ENSP00000341185:R235Q	ENSP00000308894:R259Q	R	+	2	0	RNF32	156161242	0.533000	0.26354	0.010000	0.14722	0.005000	0.04900	3.394000	0.52551	2.436000	0.82500	0.650000	0.86243	CGA		0.478	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	
LMBR1	64327	broad.mit.edu	37	7	156518215	156518215	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:156518215G>T	ENST00000353442.5	-	14	1308	c.1072C>A	c.(1072-1074)Ctt>Att	p.L358I	LMBR1_ENST00000359422.4_Missense_Mutation_p.L206I|LMBR1_ENST00000540390.1_Missense_Mutation_p.L337I|LMBR1_ENST00000354505.4_Missense_Mutation_p.L399I	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	358					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.L358I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GACACCATAAGATAGCTGTGA	0.398																																					p.L358I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072A	7						.						79.0	82.0	81.0					7																	156518215		2203	4300	6503	156210976	SO:0001583	missense	64327	exon14			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1072C>A	7.37:g.156518215G>T	ENSP00000326604:p.Leu358Ile	Somatic		Capture	Illumina HiSeq	Phase_I	156210976	NM_022458	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573999	0.45902	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.1	4.22	0.49857	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.41710	1.295	0.58432	D	0.99999	P;B;P	0.43578	0.77;0.313;0.811	B;B;B	0.43838	0.34;0.14;0.433	T	0.24297	-1.0164	10	0.36615	T	0.2	-12.6167	11.8401	0.52348	0.0814:0.0:0.9186:0.0	.	337;399;358	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	I	358;206;397;399;337	ENSP00000326604:L358I;ENSP00000352392:L206I;ENSP00000408256:L397I;ENSP00000346500:L399I;ENSP00000445509:L337I	ENSP00000326604:L358I	L	-	1	0	LMBR1	156210976	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.849000	0.75414	1.277000	0.44412	0.467000	0.42956	CTT		0.398	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	
UBE3C	9690	broad.mit.edu	37	7	157000525	157000525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:157000525C>T	ENST00000348165.5	+	13	2065	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	569					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R569*(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCAGAAGTTCGAGAAGAATA	0.398																																					p.R569X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1705T	7						.						119.0	118.0	119.0					7																	157000525		2203	4300	6503	156693286	SO:0001587	stop_gained	9690	exon13			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1705C>T	7.37:g.157000525C>T	ENSP00000309198:p.Arg569*	Somatic		Capture	Illumina HiSeq	Phase_I	156693286	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Nonsense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	39	7.633865	0.98403	.	.	ENSG00000009335	ENST00000348165	.	.	.	5.56	3.72	0.42706	.	0.057260	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3829	10.9417	0.47276	0.1285:0.8032:0.0:0.0683	.	.	.	.	X	569	.	ENSP00000309198:R569X	R	+	1	2	UBE3C	156693286	1.000000	0.71417	0.435000	0.26784	0.011000	0.07611	2.439000	0.44846	1.327000	0.45338	-0.181000	0.13052	CGA		0.398	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
UBE3C	9690	broad.mit.edu	37	7	157023919	157023919	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:157023919G>T	ENST00000348165.5	+	18	2739	c.2379G>T	c.(2377-2379)aaG>aaT	p.K793N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	793	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K793N(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGTTCTTTAAGACTACTAATG	0.453																																					p.K793N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2379T	7						.						66.0	69.0	68.0					7																	157023919		2203	4300	6503	156716680	SO:0001583	missense	9690	exon18			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2379G>T	7.37:g.157023919G>T	ENSP00000309198:p.Lys793Asn	Somatic		Capture	Illumina HiSeq	Phase_I	156716680	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999924	0.74818	.	.	ENSG00000009335	ENST00000348165	T	0.42900	0.96	5.46	4.57	0.56435	HECT (4);	0.045256	0.85682	D	0.000000	T	0.55689	0.1936	M	0.80616	2.505	0.80722	D	1	B;B	0.32893	0.389;0.154	P;B	0.45794	0.493;0.228	T	0.54543	-0.8278	10	0.31617	T	0.26	.	13.6791	0.62472	0.0739:0.0:0.9261:0.0	.	793;646	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	793	ENSP00000309198:K793N	ENSP00000309198:K793N	K	+	3	2	UBE3C	156716680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.571000	0.45990	2.590000	0.87494	0.555000	0.69702	AAG		0.453	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
PTPRN2	5799	broad.mit.edu	37	7	157959977	157959977	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:157959977C>A	ENST00000389418.4	-	6	565	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	PTPRN2_ENST00000409483.1_Missense_Mutation_p.D148Y|PTPRN2_ENST00000389416.4_Missense_Mutation_p.D169Y|PTPRN2_ENST00000389413.3_Missense_Mutation_p.D186Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D209Y	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	186					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D186Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GAGAAGCGGTCATCACCCTGA	0.597																																					p.D186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556T	7						.						63.0	64.0	64.0					7																	157959977		2203	4300	6503	157652738	SO:0001583	missense	5799	exon6			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.556G>T	7.37:g.157959977C>A	ENSP00000374069:p.Asp186Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	157652738	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	3.312	-0.140633	0.06669	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03663	3.91;3.85;3.9;3.91;3.89	4.82	2.61	0.31194	.	0.244485	0.21219	N	0.078168	T	0.06371	0.0164	L	0.27053	0.805	0.09310	N	1	D;D;D;D;D	0.58620	0.983;0.971;0.983;0.971;0.971	P;P;P;P;P	0.58873	0.847;0.707;0.847;0.707;0.707	T	0.22591	-1.0212	10	0.52906	T	0.07	.	7.6323	0.28247	0.0:0.7663:0.0:0.2337	.	209;148;186;169;186	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	Y	148;186;169;186;209	ENSP00000387114:D148Y;ENSP00000374064:D186Y;ENSP00000374067:D169Y;ENSP00000374069:D186Y;ENSP00000385464:D209Y	ENSP00000374064:D186Y	D	-	1	0	PTPRN2	157652738	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.259000	0.18405	1.007000	0.39238	0.555000	0.69702	GAC		0.597	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
IQCE	23288	broad.mit.edu	37	7	2638105	2638105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:2638105G>T	ENST00000402050.2	+	17	1631	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	IQCE_ENST00000438376.2_Nonsense_Mutation_p.E467*|IQCE_ENST00000325979.7_Nonsense_Mutation_p.E418*|IQCE_ENST00000404984.1_Nonsense_Mutation_p.E432*	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	483						mitochondrion (GO:0005739)		p.E483*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCAGGCCCAAGAGCTCCCAGC	0.642																																					p.E483X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1447T	7						.						96.0	109.0	105.0					7																	2638105		2009	4159	6168	2604631	SO:0001587	stop_gained	23288	exon17			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1447G>T	7.37:g.2638105G>T	ENSP00000385597:p.Glu483*	Somatic		Capture	Illumina HiSeq	Phase_I	2604631	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Nonsense_Mutation	SNP	ENST00000402050.2	37	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749176	0.96882	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	.	.	.	5.14	2.25	0.28309	.	1.080980	0.07108	N	0.841676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.1198	6.0733	0.19901	0.3291:0.0:0.6709:0.0	.	.	.	.	X	483;432;467;418;63	.	ENSP00000313772:E418X	E	+	1	0	IQCE	2604631	0.014000	0.17966	0.000000	0.03702	0.795000	0.44927	1.414000	0.34736	0.521000	0.28445	0.655000	0.94253	GAG		0.642	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
TTYH3	80727	broad.mit.edu	37	7	2691859	2691859	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:2691859G>A	ENST00000258796.7	+	8	1115	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	TTYH3_ENST00000403167.1_Missense_Mutation_p.A133T|TTYH3_ENST00000407643.1_Missense_Mutation_p.A272T	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	304					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A304T(1)|p.A304S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCCCGCGCCGCCAACCCCTT	0.652																																					p.A304T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G910A	7						.						43.0	34.0	37.0					7																	2691859		2203	4300	6503	2658385	SO:0001583	missense	80727	exon8				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.910G>A	7.37:g.2691859G>A	ENSP00000258796:p.Ala304Thr	Somatic		Capture	Illumina HiSeq	Phase_I	2658385	NM_025250	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.312977	0.01331	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.10288	2.89;2.89;2.89	4.1	-4.65	0.03339	.	0.594657	0.18439	N	0.141198	T	0.02083	0.0065	N	0.03050	-0.425	0.09310	N	0.999999	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.33059	-0.9883	10	0.02654	T	1	-6.5676	1.0808	0.01642	0.4205:0.1669:0.2314:0.1812	.	133;304	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	T	304;272;133	ENSP00000258796:A304T;ENSP00000385316:A272T;ENSP00000385015:A133T	ENSP00000258796:A304T	A	+	1	0	TTYH3	2658385	0.000000	0.05858	0.009000	0.14445	0.053000	0.15095	-0.872000	0.04219	-1.274000	0.02421	-1.151000	0.01829	GCC		0.652	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	
GNA12	2768	broad.mit.edu	37	7	2771130	2771130	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:2771130G>A	ENST00000275364.3	-	4	993	c.831C>T	c.(829-831)ttC>ttT	p.F277F	GNA12_ENST00000407653.1_Silent_p.F201F|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000544127.1_Silent_p.F184F|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Silent_p.F129F|GNA12_ENST00000407904.3_Silent_p.F218F	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.F277F(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGATGGTCTCGAAGATGTTCA	0.537																																					p.F277F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C831T	7						.						151.0	115.0	127.0					7																	2771130		2203	4300	6503	2737656	SO:0001819	synonymous_variant	2768	exon4			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.831C>T	7.37:g.2771130G>A		Somatic		Capture	Illumina HiSeq	Phase_I	2737656	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	ENST00000275364.3	37	CCDS5335.1																																																																																				0.537	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353	
RBAK	57786	broad.mit.edu	37	7	5105227	5105227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:5105227C>A	ENST00000353796.3	+	6	2464	c.2140C>A	c.(2140-2142)Ctc>Atc	p.L714I	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.L714I|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	714	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L714I(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTGGAAAATCTCTGAAGTCA	0.373																																					p.L714I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2140A	7						.						38.0	41.0	40.0					7																	5105227		2116	4249	6365	5071753	SO:0001583	missense	57786	exon5			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.2140C>A	7.37:g.5105227C>A	ENSP00000275423:p.Leu714Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5071753	NM_021163	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110992	0.37242	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07114	3.22;3.22	3.63	2.74	0.32292	.	0.328508	0.22348	N	0.061256	T	0.03783	0.0107	N	0.08118	0	0.26416	N	0.976183	P	0.44006	0.824	B	0.37650	0.255	T	0.37619	-0.9698	8	.	.	.	.	9.2279	0.37418	0.0:0.8873:0.0:0.1127	.	714	Q9NYW8	RBAK_HUMAN	I	714	ENSP00000275423:L714I;ENSP00000380120:L714I	.	L	+	1	0	RBAK	5071753	0.000000	0.05858	0.637000	0.29366	0.480000	0.33159	0.225000	0.17757	1.089000	0.41292	0.455000	0.32223	CTC		0.373	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163	
RNF216	54476	broad.mit.edu	37	7	5781017	5781017	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:5781017T>G	ENST00000425013.2	-	4	684	c.460A>C	c.(460-462)Aat>Cat	p.N154H	RNF216_ENST00000389902.3_Missense_Mutation_p.N211H	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	154					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N211H(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCTCCTAGATTTGATAACAGC	0.468																																					p.N154H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A460C	7						.						159.0	161.0	160.0					7																	5781017		2203	4300	6503	5747543	SO:0001583	missense	54476	exon4			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.460A>C	7.37:g.5781017T>G	ENSP00000404602:p.Asn154His	Somatic		Capture	Illumina HiSeq	Phase_I	5747543	NM_207116	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809507	0.50421	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.54479	0.65;0.57	5.42	4.26	0.50523	.	0.135993	0.50627	D	0.000107	T	0.65228	0.2671	L	0.61218	1.895	0.35790	D	0.822341	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.939	T	0.73100	-0.4089	10	0.72032	D	0.01	-14.1716	9.0995	0.36660	0.0:0.0831:0.0:0.9169	.	154;211	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	H	154;211	ENSP00000404602:N154H;ENSP00000374552:N211H	ENSP00000374550:N154H	N	-	1	0	RNF216	5747543	1.000000	0.71417	0.974000	0.42286	0.612000	0.37316	2.077000	0.41557	0.909000	0.36697	0.459000	0.35465	AAT		0.468	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111	
PMS2	5395	broad.mit.edu	37	7	6017318	6017318	+	Silent	SNP	G	G	A	rs139031103		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:6017318G>A	ENST00000265849.7	-	14	2451	c.2346C>T	c.(2344-2346)gaC>gaT	p.D782D	PMS2_ENST00000406569.3_Missense_Mutation_p.T569M|PMS2_ENST00000382321.4_Silent_p.D381D|PMS2_ENST00000441476.2_Silent_p.D676D	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	782					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.D782D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTTCATCGACGTCCTGGGGTC	0.507			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.D782D		yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2346T	7						.	G		1,4389	2.1+/-5.4	0,1,2194	102.0	81.0	88.0		2346	0.2	1.0	7	dbSNP_134	88	0,8568		0,0,4284	no	coding-synonymous	PMS2	NM_000535.5		0,1,6478	AA,AG,GG		0.0,0.0228,0.0077		782/863	6017318	1,12957	2195	4284	6479	5983844	SO:0001819	synonymous_variant	5395	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2346C>T	7.37:g.6017318G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5983844	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745429	0.49151	2.28E-4	0.0	ENSG00000122512	ENST00000406569	D	0.86865	-2.18	5.75	0.175	0.15045	.	.	.	.	.	D	0.92084	0.7491	.	.	.	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	D	0.92039	0.5639	8	0.66056	D	0.02	-18.455	15.7443	0.77926	0.1136:0.0:0.8864:0.0	.	569	P54278-3	.	M	569	ENSP00000384308:T569M	ENSP00000384308:T569M	T	-	2	0	PMS2	5983844	1.000000	0.71417	0.991000	0.47740	0.589000	0.36550	2.471000	0.45127	-0.056000	0.13221	-0.390000	0.06520	ACG		0.507	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
PMS2	5395	broad.mit.edu	37	7	6035167	6035167	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:6035167T>G	ENST00000265849.7	-	8	1006	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	PMS2_ENST00000441476.2_Missense_Mutation_p.K195Q|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.K301Q	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.K301Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTAAATACCTTTGCTGGGTCA	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K301Q		yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A901C	7						.						83.0	79.0	80.0					7																	6035167		2203	4300	6503	6001693	SO:0001583	missense	5395	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.901A>C	7.37:g.6035167T>G	ENSP00000265849:p.Lys301Gln	Somatic		Capture	Illumina HiSeq	Phase_I	6001693	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	18.49	3.635948	0.67130	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.85	5.85	0.93711	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.82618	0.5076	L	0.59436	1.845	0.58432	D	0.999999	B;P;P	0.45283	0.294;0.463;0.855	B;B;B	0.40982	0.126;0.089;0.345	T	0.80636	-0.1294	10	0.17369	T	0.5	-21.4466	16.2846	0.82712	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	Q	301;254;195;301	ENSP00000265849:K301Q;ENSP00000392843:K195Q;ENSP00000384308:K301Q	ENSP00000265849:K301Q	K	-	1	0	PMS2	6001693	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.669000	0.83911	2.242000	0.73789	0.529000	0.55759	AAG		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
EIF2AK1	27102	broad.mit.edu	37	7	6077125	6077125	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:6077125T>G	ENST00000199389.6	-	11	1408	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.K297T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.K421T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTGAAAAATTTTTGTTGCAAC	0.323																																					p.K420T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1259C	7						.						120.0	108.0	112.0					7																	6077125		2203	4300	6503	6043651	SO:0001583	missense	27102	exon11			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1262A>C	7.37:g.6077125T>G	ENSP00000199389:p.Lys421Thr	Somatic		Capture	Illumina HiSeq	Phase_I	6043651	NM_001134335	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	18.64	3.666980	0.67814	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.66995	-0.24;-0.24	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159527	0.56097	D	0.000034	T	0.74884	0.3775	L	0.52759	1.655	0.52099	D	0.999941	D;D;P	0.89917	0.987;1.0;0.615	P;D;P	0.74348	0.905;0.983;0.723	T	0.76242	-0.3031	10	0.56958	D	0.05	-37.731	9.608	0.39645	0.0:0.0789:0.0:0.9211	.	297;420;421	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	T	421;297;48	ENSP00000199389:K421T;ENSP00000445784:K297T	ENSP00000199389:K421T	K	-	2	0	EIF2AK1	6043651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.420000	0.44679	2.216000	0.71823	0.402000	0.26972	AAA		0.323	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413	
USP42	84132	broad.mit.edu	37	7	6175546	6175546	+	Missense_Mutation	SNP	G	G	A	rs374814529		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:6175546G>A	ENST00000306177.5	+	4	675	c.517G>A	c.(517-519)Gtt>Att	p.V173I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	173	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.V301I(2)|p.V173I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCTGGGGACGTTATTAAACC	0.333																																					p.V173I												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G517A	7						.	G	ILE/VAL	1,3747		0,1,1873	124.0	112.0	116.0		517	5.2	1.0	7		116	0,8220		0,0,4110	no	missense	USP42	NM_032172.2	29	0,1,5983	AA,AG,GG		0.0,0.0267,0.0084	possibly-damaging	173/1317	6175546	1,11967	1874	4110	5984	6142072	SO:0001583	missense	84132	exon4			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.517G>A	7.37:g.6175546G>A	ENSP00000301962:p.Val173Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6142072	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746507	0.89663	2.67E-4	0.0	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.02890	4.12;4.12;4.12	5.19	5.19	0.71726	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.104627	0.42053	D	0.000767	T	0.06280	0.0162	L	0.33189	0.99	0.42095	D	0.99131	D;P;P	0.54772	0.968;0.942;0.942	P;P;P	0.51415	0.558;0.669;0.669	T	0.48163	-0.9059	10	0.40728	T	0.16	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	173;173;173	Q9H9J4-2;Q9H9J4;A4D2N6	.;UBP42_HUMAN;.	I	173;106;19	ENSP00000301962:V173I;ENSP00000430568:V106I;ENSP00000408217:V19I	ENSP00000301962:V173I	V	+	1	0	USP42	6142072	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.992000	0.93519	2.578000	0.87016	0.467000	0.42956	GTT		0.333	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
KDELR2	11014	broad.mit.edu	37	7	6509365	6509365	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:6509365G>T	ENST00000258739.4	-	3	397	c.213C>A	c.(211-213)tcC>tcA	p.S71S	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Silent_p.S71S|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	71					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.S71S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CTGTGGCATAGGAGCAGGCAA	0.468																																					p.S71S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213A	7						.						79.0	74.0	76.0					7																	6509365		2203	4300	6503	6475890	SO:0001819	synonymous_variant	11014	exon3			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.213C>A	7.37:g.6509365G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6475890	NM_001100603	A4D2P4|Q6IPC5|Q96E30	Silent	SNP	ENST00000258739.4	37	CCDS5351.1																																																																																				0.468	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2		
COL28A1	340267	broad.mit.edu	37	7	7571241	7571241	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:7571241G>T	ENST00000399429.3	-	3	559	c.419C>A	c.(418-420)gCc>gAc	p.A140D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	140	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A140D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAGCCTAGTGGCATTGGAAAT	0.428																																					p.A140D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419A	7						.						82.0	76.0	78.0					7																	7571241		1929	4126	6055	7537766	SO:0001583	missense	340267	exon3			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.419C>A	7.37:g.7571241G>T	ENSP00000382356:p.Ala140Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7537766	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331891	0.60853	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.87103	-2.21	4.2	1.34	0.21922	von Willebrand factor, type A (3);	0.436617	0.19737	U	0.107214	D	0.89093	0.6617	M	0.70275	2.135	0.43924	D	0.996571	P	0.51933	0.949	P	0.56514	0.8	D	0.86301	0.1680	10	0.66056	D	0.02	-0.2093	7.202	0.25887	0.1604:0.1399:0.6996:0.0	.	140	Q2UY09	COSA1_HUMAN	D	140	ENSP00000382356:A140D	ENSP00000382347:A140D	A	-	2	0	COL28A1	7537766	0.997000	0.39634	0.997000	0.53966	0.979000	0.70002	0.532000	0.23067	0.167000	0.19631	0.655000	0.94253	GCC		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
MIOS	54468	broad.mit.edu	37	7	7635908	7635908	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:7635908C>A	ENST00000340080.4	+	11	2638	c.2217C>A	c.(2215-2217)ttC>ttA	p.F739L	MIOS_ENST00000405785.1_Missense_Mutation_p.F739L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	739						lysosomal membrane (GO:0005765)		p.F739L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGCAATTTCTGTGGCAAGT	0.388																																					p.F739L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2217A	7						.						125.0	114.0	117.0					7																	7635908		1873	4113	5986	7602433	SO:0001583	missense	54468	exon11				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2217C>A	7.37:g.7635908C>A	ENSP00000339881:p.Phe739Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7602433	NM_019005	B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850047	0.71603	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.44083	0.93;0.93	5.59	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	L	0.58510	1.815	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.66979	0.948;0.948	T	0.45264	-0.9273	10	0.45353	T	0.12	-17.0184	8.7974	0.34887	0.0:0.5284:0.0:0.4716	.	739;739	B4DGE7;Q9NXC5	.;MIO_HUMAN	L	739	ENSP00000339881:F739L;ENSP00000384088:F739L	ENSP00000339881:F739L	F	+	3	2	MIOS	7602433	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.178000	0.31981	0.097000	0.17492	0.467000	0.42956	TTC		0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005	
ICA1	3382	broad.mit.edu	37	7	8153571	8153571	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:8153571G>A	ENST00000402384.3	-	14	1700	c.1434C>T	c.(1432-1434)caC>caT	p.H478H	ICA1_ENST00000265577.7_Silent_p.H477H|ICA1_ENST00000396675.3_Silent_p.H478H|ICA1_ENST00000406470.2_Silent_p.H478H|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000422063.2_Silent_p.H507H|ICA1_ENST00000401396.1_Silent_p.H466H			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	478					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.H478H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGAGCAATTCGTGTTCTTTAT	0.537																																					p.H478H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434T	7						.						159.0	147.0	151.0					7																	8153571		2203	4300	6503	8120096	SO:0001819	synonymous_variant	3382	exon14				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1434C>T	7.37:g.8153571G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8120096	NM_004968	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	CCDS34602.1																																																																																				0.537	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
NXPH1	30010	broad.mit.edu	37	7	8790753	8790753	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:8790753G>A	ENST00000405863.1	+	3	1081	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	57	II.					extracellular region (GO:0005576)		p.R57Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCTATCAGCCGACTCCTGTCA	0.453																																					p.R57Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	7						.						67.0	67.0	67.0					7																	8790753		1967	4161	6128	8757278	SO:0001583	missense	30010	exon3			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.170G>A	7.37:g.8790753G>A	ENSP00000384551:p.Arg57Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8757278	NM_152745	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868587	0.72065	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.60042	-0.7340	9	0.27082	T	0.32	-8.0112	20.6593	0.99626	0.0:0.0:1.0:0.0	.	57	P58417	NXPH1_HUMAN	Q	57	.	ENSP00000384551:R57Q	R	+	2	0	NXPH1	8757278	1.000000	0.71417	0.992000	0.48379	0.725000	0.41563	9.441000	0.97557	2.885000	0.99019	0.655000	0.94253	CGA		0.453	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
NXPH1	30010	broad.mit.edu	37	7	8791145	8791145	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:8791145G>T	ENST00000405863.1	+	3	1473	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D71Y	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	188	V (Cys-rich).					extracellular region (GO:0005576)		p.D188Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGATGCCAAAGATTCCAAGTC	0.413																																					p.D188Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562T	7						.						61.0	59.0	59.0					7																	8791145		1864	4105	5969	8757670	SO:0001583	missense	30010	exon3			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.562G>T	7.37:g.8791145G>T	ENSP00000384551:p.Asp188Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8757670	NM_152745	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723174	0.68959	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.77230	-0.2664	9	0.66056	D	0.02	-15.0406	20.6208	0.99490	0.0:0.0:1.0:0.0	.	188	P58417	NXPH1_HUMAN	Y	188;71	.	ENSP00000384551:D188Y	D	+	1	0	NXPH1	8757670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAT		0.413	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
ISPD	729920	broad.mit.edu	37	7	16317777	16317777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:16317777C>A	ENST00000407010.2	-	6	909	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Nonsense_Mutation_p.E254*	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	304					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.E304*(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TTCAGCACTTCTTCAAGAAGA	0.274										Multiple Myeloma(15;0.18)																											p.E254X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G760T	7						.						45.0	45.0	45.0					7																	16317777		1789	4061	5850	16284302	SO:0001587	stop_gained	729920	exon5			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.910G>T	7.37:g.16317777C>A	ENSP00000385478:p.Glu304*	Somatic		Capture	Illumina HiSeq	Phase_I	16284302	NM_001101417	A8MU35|H9KVB2	Nonsense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808068	0.90707	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-22.2124	12.3642	0.55219	0.0:1.0:0.0:0.0	.	.	.	.	X	304;254	.	ENSP00000382249:E254X	E	-	1	0	ISPD	16284302	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.325000	0.33724	2.166000	0.68216	0.467000	0.42956	GAA		0.274	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426	
ANKMY2	57037	broad.mit.edu	37	7	16649317	16649317	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:16649317A>C	ENST00000306999.2	-	7	1063	c.820T>G	c.(820-822)Ttt>Gtt	p.F274V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	274						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.F274V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTAAGGAAATTTTCTGATA	0.383																																					p.F274V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T820G	7						.						112.0	113.0	112.0					7																	16649317		2203	4300	6503	16615842	SO:0001583	missense	57037	exon7			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.820T>G	7.37:g.16649317A>C	ENSP00000303570:p.Phe274Val	Somatic		Capture	Illumina HiSeq	Phase_I	16615842	NM_020319	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018167	0.93404	.	.	ENSG00000106524	ENST00000306999	D	0.82081	-1.57	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92723	0.6193	10	0.62326	D	0.03	-28.7267	16.5582	0.84512	1.0:0.0:0.0:0.0	.	274	Q8IV38	ANKY2_HUMAN	V	274	ENSP00000303570:F274V	ENSP00000303570:F274V	F	-	1	0	ANKMY2	16615842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	TTT		0.383	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
AHR	196	broad.mit.edu	37	7	17349713	17349713	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:17349713C>T	ENST00000242057.4	+	2	862	c.219C>T	c.(217-219)agC>agT	p.S73S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	73	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S73S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTAGGCTCAGCGTCAGTTACC	0.398																																					p.S73S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	7						.						78.0	72.0	74.0					7																	17349713		2203	4300	6503	17316238	SO:0001819	synonymous_variant	196	exon2			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.219C>T	7.37:g.17349713C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17316238	NM_001621	A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	CCDS5366.1																																																																																				0.398	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
AHR	196	broad.mit.edu	37	7	17378954	17378954	+	Missense_Mutation	SNP	C	C	T	rs533269895		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:17378954C>T	ENST00000242057.4	+	10	2148	c.1505C>T	c.(1504-1506)cCg>cTg	p.P502L	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	502					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P502L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AATACTGCACCGATGGGAAAT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		21824	0.0		0.0	False		,,,				2504	0.001				p.P502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	7						.						86.0	85.0	86.0					7																	17378954		2203	4300	6503	17345479	SO:0001583	missense	196	exon10			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1505C>T	7.37:g.17378954C>T	ENSP00000242057:p.Pro502Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17345479	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328645	0.24167	.	.	ENSG00000106546	ENST00000242057	T	0.05855	3.38	5.7	4.82	0.62117	.	0.398744	0.27836	N	0.017645	T	0.14527	0.0351	M	0.86953	2.85	0.25693	N	0.985665	P	0.36010	0.532	B	0.35278	0.199	T	0.07693	-1.0759	10	0.56958	D	0.05	.	15.2134	0.73244	0.0:0.9322:0.0:0.0678	.	502	P35869	AHR_HUMAN	L	502	ENSP00000242057:P502L	ENSP00000242057:P502L	P	+	2	0	AHR	17345479	0.480000	0.25933	0.002000	0.10522	0.004000	0.04260	6.452000	0.73485	1.548000	0.49413	0.650000	0.86243	CCG		0.403	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
SNX13	23161	broad.mit.edu	37	7	17890018	17890018	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:17890018G>A	ENST00000409389.1	-	11	1189	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SNX13_ENST00000428135.3_Silent_p.F339F			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	339					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.F339F(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CCTTCTTTACGAATAGTAAGC	0.284																																					p.F339F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1017T	7						.						69.0	61.0	64.0					7																	17890018		1837	4080	5917	17856543	SO:0001819	synonymous_variant	23161	exon11			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1017C>T	7.37:g.17890018G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17856543	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37																																																																																					0.284	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
SNX13	23161	broad.mit.edu	37	7	17915106	17915106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:17915106C>A	ENST00000409389.1	-	7	833	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	SNX13_ENST00000428135.3_Nonsense_Mutation_p.E221*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	221	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.E221*(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGAAAACCTTCTTCATCTTTG	0.363																																					p.E221X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G661T	7						.						70.0	67.0	68.0					7																	17915106		1816	4085	5901	17881631	SO:0001587	stop_gained	23161	exon7			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.661G>T	7.37:g.17915106C>A	ENSP00000386705:p.Glu221*	Somatic		Capture	Illumina HiSeq	Phase_I	17881631	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	C	38	7.248288	0.98161	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.77	5.77	0.91146	.	0.044457	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.9808	0.97324	0.0:1.0:0.0:0.0	.	.	.	.	X	221;221;269	.	ENSP00000242044:E269X	E	-	1	0	SNX13	17881631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.085000	0.76875	2.714000	0.92807	0.655000	0.94253	GAA		0.363	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
PRPS1L1	221823	broad.mit.edu	37	7	18066476	18066476	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:18066476G>T	ENST00000506618.2	-	1	1010	c.930C>A	c.(928-930)tcC>tcA	p.S310S		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	310					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.S310S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGAACAGGTAGGAAACAGATT	0.328																																					p.S310S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C930A	7						.						197.0	199.0	198.0					7																	18066476		2178	4294	6472	18033001	SO:0001819	synonymous_variant	221823	exon1			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.930C>A	7.37:g.18066476G>T		Somatic		Capture	Illumina HiSeq	Phase_I	18033001	NM_175886	Q6P5P6	Silent	SNP	ENST00000506618.2	37	CCDS47552.1																																																																																				0.328	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
HDAC9	9734	broad.mit.edu	37	7	18625100	18625100	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:18625100G>T	ENST00000432645.2	+	2	219	c.219G>T	c.(217-219)gaG>gaT	p.E73D	HDAC9_ENST00000417496.2_Missense_Mutation_p.E115D|HDAC9_ENST00000524023.1_Missense_Mutation_p.E42D|HDAC9_ENST00000406072.1_Missense_Mutation_p.E101D|HDAC9_ENST00000456174.2_Missense_Mutation_p.E42D|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.E73D|HDAC9_ENST00000441542.2_Missense_Mutation_p.E73D|HDAC9_ENST00000428307.2_Missense_Mutation_p.E73D|HDAC9_ENST00000401921.1_Missense_Mutation_p.E73D|HDAC9_ENST00000406451.4_Missense_Mutation_p.E73D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	73					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E73D(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACAGCATGAGAACTTGACAC	0.488																																					p.E73D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G219T	7						.						50.0	52.0	52.0					7																	18625100		2080	4222	6302	18591625	SO:0001583	missense	9734	exon2			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.219G>T	7.37:g.18625100G>T	ENSP00000410337:p.Glu73Asp	Somatic		Capture	Illumina HiSeq	Phase_I	18591625	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925852	0.52759	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.7;0.5;0.59;0.7;0.18;0.69;0.73;0.14;0.19;0.19;0.61;0.72;0.74	5.71	4.83	0.62350	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.56097	D	0.000022	T	0.63271	0.2497	L	0.38531	1.155	0.58432	D	0.999992	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.999;0.997;0.992;0.998;0.998;0.999;0.997;0.998;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.992;0.994;0.99;0.998;0.992;0.989;0.99;0.99;0.994;0.992;0.99;0.99;0.994	T	0.60777	-0.7196	10	0.33141	T	0.24	-25.2422	9.0779	0.36534	0.2324:0.0:0.7676:0.0	.	42;42;73;101;115;73;73;73;73;42;73;73;92	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	D	115;118;73;73;42;73;73;73;101;73;73;73;42;42;42;73	ENSP00000401669:E115D;ENSP00000412497:E73D;ENSP00000392564:E73D;ENSP00000384382:E73D;ENSP00000384657:E73D;ENSP00000395655:E73D;ENSP00000384017:E101D;ENSP00000383912:E73D;ENSP00000410337:E73D;ENSP00000408617:E73D;ENSP00000404763:E42D;ENSP00000388568:E42D;ENSP00000430036:E42D	ENSP00000262069:E118D	E	+	3	2	HDAC9	18591625	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.647000	0.37260	1.411000	0.46957	-0.150000	0.13652	GAG		0.488	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
HDAC9	9734	broad.mit.edu	37	7	18669056	18669056	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:18669056G>T	ENST00000432645.2	+	6	739	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.D219Y|HDAC9_ENST00000405010.3_Missense_Mutation_p.D247Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D250Y|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Missense_Mutation_p.D247Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	247	Interaction with ETV6.|Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D250Y(2)|p.D247Y(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGGCGGAAGGATGGAAATGT	0.478																																					p.D250Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G748T	7						.						78.0	77.0	77.0					7																	18669056		1936	4139	6075	18635581	SO:0001583	missense	9734	exon6			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.739G>T	7.37:g.18669056G>T	ENSP00000410337:p.Asp247Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	18635581	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243124	0.79912	.	.	ENSG00000048052	ENST00000405010;ENST00000406451;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000341009	T;T;T;T;T	0.61040	0.66;0.14;0.15;0.15;0.68	5.95	5.95	0.96441	.	0.193962	0.36002	N	0.002848	T	0.77935	0.4205	M	0.74881	2.28	0.80722	D	1	P;D;D;D;D;D;D;D	0.89917	0.911;1.0;0.999;1.0;0.998;0.964;1.0;0.992	B;D;D;D;D;P;D;P	0.76575	0.425;0.988;0.927;0.988;0.936;0.557;0.988;0.717	T	0.78563	-0.2156	10	0.87932	D	0	-28.1821	20.3747	0.98911	0.0:0.0:1.0:0.0	.	219;247;250;250;247;219;247;247	C9JS87;Q9UKV0-4;Q68D71;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3	.;.;.;.;HDAC9_HUMAN;.;.;.	Y	247;247;247;250;219;247	ENSP00000384382:D247Y;ENSP00000384657:D247Y;ENSP00000410337:D247Y;ENSP00000408617:D250Y;ENSP00000388568:D219Y	ENSP00000339165:D247Y	D	+	1	0	HDAC9	18635581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.817000	0.96982	0.563000	0.77884	GAT		0.478	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
HDAC9	9734	broad.mit.edu	37	7	18801849	18801849	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:18801849T>C	ENST00000432645.2	+	14	2104	c.2104T>C	c.(2104-2106)Tat>Cat	p.Y702H	HDAC9_ENST00000441542.2_Missense_Mutation_p.Y705H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Y661H|HDAC9_ENST00000406451.4_Missense_Mutation_p.Y702H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	702	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Y705H(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCACTGTTGTATGGCACCAA	0.507																																					p.Y705H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2113C	7						.						71.0	71.0	71.0					7																	18801849		1951	4150	6101	18768374	SO:0001583	missense	9734	exon14			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2104T>C	7.37:g.18801849T>C	ENSP00000410337:p.Tyr702His	Somatic		Capture	Illumina HiSeq	Phase_I	18768374	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076647	0.76415	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.56	4.34	0.51931	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000019	T	0.78046	0.4222	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.62365	0.968;0.979;0.979;0.983;0.979;0.991	D;P;P;D;P;D	0.76575	0.988;0.858;0.858;0.912;0.858;0.94	T	0.80315	-0.1434	10	0.87932	D	0	-9.2476	12.572	0.56342	0.0:0.0:0.1385:0.8615	.	702;661;705;702;702;680	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	H	702;661;702;705;614	ENSP00000384657:Y702H;ENSP00000383912:Y661H;ENSP00000410337:Y702H;ENSP00000408617:Y705H	ENSP00000339165:Y614H	Y	+	1	0	HDAC9	18768374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.077000	0.64419	2.240000	0.73641	0.533000	0.62120	TAT		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
FERD3L	222894	broad.mit.edu	37	7	19184935	19184935	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:19184935G>A	ENST00000275461.3	-	1	109	c.51C>T	c.(49-51)gtC>gtT	p.V17V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	17					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V17V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ACAGGTCTGCGACGAAGTCCA	0.677																																					p.V17V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	7						.						34.0	33.0	34.0					7																	19184935		2203	4298	6501	19151460	SO:0001819	synonymous_variant	222894	exon1			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.51C>T	7.37:g.19184935G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19151460	NM_152898	Q495K0	Silent	SNP	ENST00000275461.3	37	CCDS5368.1																																																																																				0.677	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1		
TMEM196	256130	broad.mit.edu	37	7	19761719	19761719	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:19761719C>A	ENST00000405764.3	-	4	1194	c.498G>T	c.(496-498)ctG>ctT	p.L166L	AC004543.1_ENST00000408649.2_RNA|TMEM196_ENST00000493519.1_Silent_p.L98L|TMEM196_ENST00000422233.1_3'UTR|TMEM196_ENST00000433641.1_3'UTR|TMEM196_ENST00000405844.1_3'UTR	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	172						integral component of membrane (GO:0016021)		p.L98L(2)|p.L166L(1)		breast(1)|large_intestine(1)|lung(4)	6						CATTAAATATCAGCTGTGGTC	0.318																																					p.L166L												.	.	3	Substitution - coding silent(3)	breast(2)|large_intestine(1)	c.G498T	7						.						152.0	133.0	139.0					7																	19761719		2202	4300	6502	19728244	SO:0001819	synonymous_variant	256130	exon4				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.498G>T	7.37:g.19761719C>A		Somatic		Capture	Illumina HiSeq	Phase_I	19728244	NM_152774	Q8N6I6	Silent	SNP	ENST00000405764.3	37	CCDS34607.2																																																																																				0.318	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774	
MACC1	346389	broad.mit.edu	37	7	20197913	20197913	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:20197913C>T	ENST00000400331.5	-	5	2379	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	MACC1_ENST00000589011.1_Missense_Mutation_p.E691K|MACC1_ENST00000332878.4_Missense_Mutation_p.E691K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	691					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E691K(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GAAACTTTCTCTGATTCTTTG	0.353																																					p.E691K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2071A	7						.						69.0	73.0	72.0					7																	20197913		2203	4299	6502	20164438	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2071G>A	7.37:g.20197913C>T	ENSP00000383185:p.Glu691Lys	Somatic		Capture	Illumina HiSeq	Phase_I	20164438	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590530	0.86851	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	.	0.189685	0.56097	D	0.000032	T	0.46367	0.1389	M	0.64567	1.98	0.80722	D	1	D	0.59767	0.986	P	0.50970	0.655	T	0.43909	-0.9362	10	0.72032	D	0.01	-25.7363	19.933	0.97127	0.0:1.0:0.0:0.0	.	691	Q6ZN28	MACC1_HUMAN	K	691	ENSP00000383185:E691K;ENSP00000328410:E691K	ENSP00000328410:E691K	E	-	1	0	MACC1	20164438	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GAG		0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
MACC1	346389	broad.mit.edu	37	7	20198610	20198610	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:20198610C>A	ENST00000400331.5	-	5	1682	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	MACC1_ENST00000589011.1_Missense_Mutation_p.K458N|MACC1_ENST00000332878.4_Missense_Mutation_p.K458N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	458					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K458N(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTTCCAACTGCTTTTGTTTAA	0.338																																					p.K458N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1374T	7						.						77.0	63.0	67.0					7																	20198610		2202	4300	6502	20165135	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1374G>T	7.37:g.20198610C>A	ENSP00000383185:p.Lys458Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20165135	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.365776	0.00212	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09911	2.93;2.93	5.84	-1.79	0.07932	.	0.899645	0.10062	N	0.720768	T	0.08537	0.0212	L	0.54323	1.7	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.40308	-0.9570	10	0.34782	T	0.22	0.0644	1.1444	0.01772	0.2771:0.3402:0.1852:0.1975	.	458	Q6ZN28	MACC1_HUMAN	N	458	ENSP00000383185:K458N;ENSP00000328410:K458N	ENSP00000328410:K458N	K	-	3	2	MACC1	20165135	0.571000	0.26659	0.018000	0.16275	0.014000	0.08584	-0.078000	0.11375	-0.880000	0.03997	-1.273000	0.01405	AAG		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ABCB5	340273	broad.mit.edu	37	7	20687670	20687670	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:20687670C>A	ENST00000404938.2	+	11	1827	c.1175C>A	c.(1174-1176)tCt>tAt	p.S392Y	ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	392	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAAATGTTTCTTTCAATTAT	0.338																																					p.S392Y												.	.	0			c.C1175A	7						.						52.0	49.0	50.0					7																	20687670		1568	3581	5149	20654195	SO:0001583	missense	340273	exon11			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1175C>A	7.37:g.20687670C>A	ENSP00000384881:p.Ser392Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	20654195	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	6.254	0.415052	0.11870	.	.	ENSG00000004846	ENST00000404938	D	0.91237	-2.81	5.29	3.32	0.38043	.	.	.	.	.	D	0.84633	0.5515	L	0.46567	1.45	0.80722	D	1	B	0.22800	0.075	B	0.23716	0.048	T	0.76291	-0.3013	9	0.07175	T	0.84	.	11.3848	0.49778	0.4932:0.5068:0.0:0.0	.	392	A7BKA4	.	Y	392	ENSP00000384881:S392Y	ENSP00000384881:S392Y	S	+	2	0	ABCB5	20654195	0.564000	0.26602	1.000000	0.80357	0.345000	0.29048	1.382000	0.34374	1.535000	0.49220	-0.188000	0.12872	TCT		0.338	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20744421	20744421	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:20744421A>C	ENST00000404938.2	+	20	3064	c.2412A>C	c.(2410-2412)caA>caC	p.Q804H	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	804	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q359H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATATAGCACAAATTCAAGGAG	0.363																																					p.Q359H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1077C	7						.						138.0	131.0	134.0					7																	20744421		2203	4300	6503	20710946	SO:0001583	missense	340273	exon11			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2412A>C	7.37:g.20744421A>C	ENSP00000384881:p.Gln804His	Somatic		Capture	Illumina HiSeq	Phase_I	20710946	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964261	0.34659	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90133	-2.62;-2.62	4.66	1.03	0.20045	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.56097	D	0.000034	D	0.84651	0.5519	L	0.43152	1.355	0.30724	N	0.747886	P;B	0.41624	0.757;0.262	B;B	0.41764	0.366;0.275	T	0.79191	-0.1905	10	0.33141	T	0.24	.	7.1008	0.25336	0.5859:0.0:0.4141:0.0	.	804;359	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	804;359	ENSP00000384881:Q804H;ENSP00000258738:Q359H	ENSP00000258738:Q359H	Q	+	3	2	ABCB5	20710946	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	0.809000	0.27168	0.091000	0.17302	0.379000	0.24179	CAA		0.363	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
SP4	6671	broad.mit.edu	37	7	21550841	21550841	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21550841C>T	ENST00000222584.3	+	6	2527	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	770					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S770L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCTCAAGATTCGAATCCAGCA	0.433																																					p.S770L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2309T	7						.						77.0	81.0	79.0					7																	21550841		2203	4300	6503	21517366	SO:0001583	missense	6671	exon6				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2309C>T	7.37:g.21550841C>T	ENSP00000222584:p.Ser770Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21517366	NM_003112	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577750	0.86645	.	.	ENSG00000105866	ENST00000222584	T	0.10668	2.85	5.44	5.44	0.79542	.	0.210153	0.42172	D	0.000757	T	0.17238	0.0414	N	0.08118	0	0.58432	D	0.999998	D	0.69078	0.997	D	0.67725	0.953	T	0.31752	-0.9932	10	0.72032	D	0.01	.	19.264	0.93979	0.0:1.0:0.0:0.0	.	770	Q02446	SP4_HUMAN	L	770	ENSP00000222584:S770L	ENSP00000222584:S770L	S	+	2	0	SP4	21517366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.572000	0.86782	0.591000	0.81541	TCG		0.433	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
DNAH11	8701	broad.mit.edu	37	7	21611526	21611526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21611526G>T	ENST00000409508.3	+	8	1559	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E510*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	510	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E510*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATGAGTGAAGAACTTATGGA	0.378									Kartagener syndrome																												p.E510X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1528T	7						.						88.0	86.0	87.0					7																	21611526		1837	4078	5915	21578051	SO:0001587	stop_gained	8701	exon8	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1528G>T	7.37:g.21611526G>T	ENSP00000475939:p.Glu510*	Somatic		Capture	Illumina HiSeq	Phase_I	21578051	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	38	6.818971	0.97861	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.55	5.55	0.83447	.	0.169349	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	.	.	.	X	510	.	ENSP00000330671:E510X	E	+	1	0	DNAH11	21578051	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	6.731000	0.74785	2.612000	0.88384	0.655000	0.94253	GAA		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21640504	21640504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21640504G>T	ENST00000409508.3	+	16	3242	c.3211G>T	c.(3211-3213)Gaa>Taa	p.E1071*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E1071*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1071	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1071*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCAAATGAAGAAATTCCCGA	0.418									Kartagener syndrome																												p.E1071X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3211T	7						.						127.0	119.0	122.0					7																	21640504		1893	4127	6020	21607029	SO:0001587	stop_gained	8701	exon16	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3211G>T	7.37:g.21640504G>T	ENSP00000475939:p.Glu1071*	Somatic		Capture	Illumina HiSeq	Phase_I	21607029	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.552960	0.98355	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.43	5.43	0.79202	.	0.259629	0.36134	N	0.002771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	18.8366	0.92165	0.0:0.0:1.0:0.0	.	.	.	.	X	1071	.	ENSP00000330671:E1071X	E	+	1	0	DNAH11	21607029	0.531000	0.26338	0.803000	0.32268	0.024000	0.10985	3.423000	0.52756	2.563000	0.86464	0.563000	0.77884	GAA		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21641023	21641023	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21641023G>T	ENST00000409508.3	+	18	3466	c.3435G>T	c.(3433-3435)gaG>gaT	p.E1145D	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1145D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1145	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1145D(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCTGAATGAGCTACAAGAAT	0.308									Kartagener syndrome																												p.E1145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3435T	7						.						57.0	57.0	57.0					7																	21641023		1794	4069	5863	21607548	SO:0001583	missense	8701	exon18	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3435G>T	7.37:g.21641023G>T	ENSP00000475939:p.Glu1145Asp	Somatic		Capture	Illumina HiSeq	Phase_I	21607548	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	3.101	-0.184793	0.06340	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.71	1.75	0.24633	.	0.116225	0.56097	D	0.000026	T	0.09379	0.0231	.	.	.	0.39924	D	0.974194	B	0.21606	0.058	B	0.20184	0.028	T	0.14587	-1.0467	9	0.09843	T	0.71	.	0.4662	0.00524	0.2477:0.1943:0.3325:0.2255	.	1145	Q96DT5	DYH11_HUMAN	D	1145	ENSP00000330671:E1145D	ENSP00000330671:E1145D	E	+	3	2	DNAH11	21607548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.578000	0.23773	0.776000	0.33473	0.655000	0.94253	GAG		0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21904253	21904253	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21904253C>T	ENST00000409508.3	+	70	11505	c.11474C>T	c.(11473-11475)tCt>tTt	p.S3825F	DNAH11_ENST00000328843.6_Missense_Mutation_p.S3832F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3832					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3832F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCCTAACTTCTCAGTCATGG	0.368									Kartagener syndrome																												p.F3832F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11496T	7						.						140.0	133.0	135.0					7																	21904253		1855	4104	5959	21870778	SO:0001583	missense	8701	exon70	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11474C>T	7.37:g.21904253C>T	ENSP00000475939:p.Ser3825Phe	Somatic		Capture	Illumina HiSeq	Phase_I	21870778	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	7.913	0.736933	0.15574	.	.	ENSG00000105877	ENST00000328843	T	0.08984	3.03	5.22	4.32	0.51571	Dynein heavy chain (1);	0.966689	0.08517	N	0.934109	T	0.10380	0.0254	.	.	.	0.09310	N	1	B	0.33477	0.413	B	0.37989	0.262	T	0.36286	-0.9754	9	0.87932	D	0	.	6.8302	0.23905	0.1522:0.7021:0.0:0.1457	.	3832	Q96DT5	DYH11_HUMAN	F	3832	ENSP00000330671:S3832F	ENSP00000330671:S3832F	S	+	2	0	DNAH11	21870778	0.000000	0.05858	0.731000	0.30826	0.173000	0.22820	0.540000	0.23191	1.139000	0.42245	0.591000	0.81541	TCT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21912967	21912967	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21912967G>T	ENST00000409508.3	+	74	12074	c.12043G>T	c.(12043-12045)Gat>Tat	p.D4015Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.D4022Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4022	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D4022Y(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCCACAGAGATTACAGGGT	0.438									Kartagener syndrome																												p.R4022I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12065T	7						.						48.0	48.0	48.0					7																	21912967		1906	4124	6030	21879492	SO:0001583	missense	8701	exon74	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12043G>T	7.37:g.21912967G>T	ENSP00000475939:p.Asp4015Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21879492	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.168897	0.78339	.	.	ENSG00000105877	ENST00000328843	T	0.10192	2.9	5.78	5.78	0.91487	Dynein heavy chain (1);	0.108387	0.64402	D	0.000006	T	0.37598	0.1009	.	.	.	0.58432	D	0.999999	D	0.76494	0.999	D	0.74023	0.982	T	0.07868	-1.0750	9	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	4022	Q96DT5	DYH11_HUMAN	Y	4022	ENSP00000330671:D4022Y	ENSP00000330671:D4022Y	D	+	1	0	DNAH11	21879492	1.000000	0.71417	0.962000	0.40283	0.990000	0.78478	4.291000	0.59025	2.729000	0.93468	0.650000	0.86243	GAT		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CDCA7L	55536	broad.mit.edu	37	7	21940794	21940794	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21940794C>A	ENST00000406877.3	-	0	2790				CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000328843.6_Silent_p.I4498I|DNAH11_ENST00000409508.3_Silent_p.I4491I	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.I4498I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCAGCTACATCTGGACCTTCA	0.517																																					p.L4499M												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13495A	7						.						77.0	79.0	78.0					7																	21940794		1889	4135	6024	21907319	SO:0001624	3_prime_UTR_variant	8701	exon82				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1146G>T	7.37:g.21940794C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21907319	NM_003777	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	ENST00000406877.3	37	CCDS5374.1																																																																																				0.517	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
CDCA7L	55536	broad.mit.edu	37	7	21947891	21947891	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:21947891G>T	ENST00000406877.3	-	4	817	c.538C>A	c.(538-540)Ctt>Att	p.L180I	CDCA7L_ENST00000373934.4_Missense_Mutation_p.L134I|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.L146I	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	180					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L180I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTCTTTCAAGAATTGTTTTT	0.443																																					p.L146I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436A	7						.						89.0	81.0	84.0					7																	21947891		2203	4300	6503	21914416	SO:0001583	missense	55536	exon5				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.538C>A	7.37:g.21947891G>T	ENSP00000383986:p.Leu180Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21914416	NM_001127370	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996188	0.35226	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951	T;T;T;T	0.54866	0.9;0.89;0.91;0.55	5.63	1.47	0.22746	.	0.486110	0.18877	N	0.128698	T	0.40645	0.1125	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.14012	0.005;0.004;0.004;0.009	B;B;B;B	0.16289	0.006;0.005;0.005;0.015	T	0.31251	-0.9950	10	0.40728	T	0.16	-5.3934	1.9132	0.03291	0.1938:0.1172:0.4484:0.2407	.	180;134;180;179	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	I	146;180;134;133	ENSP00000348523:L146I;ENSP00000383986:L180I;ENSP00000363045:L134I;ENSP00000406616:L133I	ENSP00000348523:L146I	L	-	1	0	CDCA7L	21914416	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.495000	0.22483	0.387000	0.25024	-0.140000	0.14226	CTT		0.443	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
FAM126A	84668	broad.mit.edu	37	7	23023638	23023638	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23023638A>C	ENST00000432176.2	-	3	310	c.78T>G	c.(76-78)aaT>aaG	p.N26K	FAM126A_ENST00000409763.1_Missense_Mutation_p.N26K|FAM126A_ENST00000409923.1_Missense_Mutation_p.N26K	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	26					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.N26K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTGTGGCATAATTTGGTAAAG	0.303																																					p.N26K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T78G	7						.						72.0	78.0	76.0					7																	23023638		2202	4297	6499	22990163	SO:0001583	missense	84668	exon3			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.78T>G	7.37:g.23023638A>C	ENSP00000403396:p.Asn26Lys	Somatic		Capture	Illumina HiSeq	Phase_I	22990163	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.90|15.90	2.970699|2.970699	0.53614|0.53614	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000440481|ENST00000432176;ENST00000409923;ENST00000409763	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.91|5.91	2.24|2.24	0.28232|0.28232	.|.	.|0.508336	.|0.24109	.|N	.|0.041463	T|T	0.53546|0.53546	0.1803|0.1803	L|L	0.36672|0.36672	1.1|1.1	0.47374|0.47374	D|D	0.999406|0.999406	.|P	.|0.35793	.|0.521	.|B	.|0.31946	.|0.138	T|T	0.42344|0.42344	-0.9457|-0.9457	5|10	.|0.11182	.|T	.|0.66	-3.5|-3.5	4.462|4.462	0.11671|0.11671	0.5648:0.1859:0.2493:0.0|0.5648:0.1859:0.2493:0.0	.|.	.|26	.|Q9BYI3	.|HYCCI_HUMAN	S|K	78|26	.|ENSP00000403396:N26K;ENSP00000386246:N26K;ENSP00000386624:N26K	.|ENSP00000386624:N26K	I|N	-|-	2|3	0|2	FAM126A|FAM126A	22990163|22990163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.696000|3.696000	0.54757|0.54757	1.067000|1.067000	0.40740|0.40740	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.303	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
NUPL2	11097	broad.mit.edu	37	7	23240239	23240239	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23240239G>T	ENST00000258742.5	+	7	1406	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	383	Interaction with GLE1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.D383Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTGCAACAGATAATGTGTT	0.393																																					p.D383Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147T	7						.						128.0	125.0	126.0					7																	23240239		2203	4300	6503	23206764	SO:0001583	missense	11097	exon7			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1147G>T	7.37:g.23240239G>T	ENSP00000258742:p.Asp383Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23206764	NM_007342	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032447	0.35893	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.32988	1.45;1.43	5.82	4.93	0.64822	.	0.580439	0.19181	N	0.120662	T	0.46034	0.1372	M	0.61703	1.905	0.29090	N	0.88215	D	0.59767	0.986	P	0.59288	0.855	T	0.46233	-0.9206	10	0.62326	D	0.03	-5.7261	9.9054	0.41372	0.0725:0.1404:0.7871:0.0	.	383	O15504	NUPL2_HUMAN	Y	383;408	ENSP00000258742:D383Y;ENSP00000401475:D408Y	ENSP00000258742:D383Y	D	+	1	0	NUPL2	23206764	1.000000	0.71417	0.054000	0.19295	0.422000	0.31414	4.282000	0.58971	1.428000	0.47296	0.655000	0.94253	GAT		0.393	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	
GPNMB	10457	broad.mit.edu	37	7	23306206	23306206	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23306206C>T	ENST00000381990.2	+	7	1286	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G	GPNMB_ENST00000258733.4_Silent_p.G363G|GPNMB_ENST00000539136.1_Silent_p.G264G|GPNMB_ENST00000453162.2_Silent_p.G317G	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	375					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G375G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACAGATATGGCCACTTTCAAG	0.478																																					p.G363G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	7						.						82.0	72.0	75.0					7																	23306206		2203	4300	6503	23272731	SO:0001819	synonymous_variant	10457	exon7			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1125C>T	7.37:g.23306206C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23272731	NM_002510	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																				0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
MALSU1	115416	broad.mit.edu	37	7	23340611	23340611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23340611C>T	ENST00000466681.1	+	2	563	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	137					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)		p.A137V(1)									CACTTACATGCCATGGCCTTC	0.418																																					p.A137V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C410T	7						.						237.0	211.0	220.0					7																	23340611		2203	4300	6503	23307136	SO:0001583	missense	115416	exon2			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.410C>T	7.37:g.23340611C>T	ENSP00000419370:p.Ala137Val	Somatic		Capture	Illumina HiSeq	Phase_I	23307136	NM_138446	A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598546	0.96614	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.65	5.65	0.86999	.	0.057281	0.64402	D	0.000002	D	0.89518	0.6738	H	0.95114	3.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.92105	0.5691	8	.	.	.	-0.7342	19.7244	0.96157	0.0:1.0:0.0:0.0	.	137	Q96EH3	CG030_HUMAN	V	137	.	.	A	+	2	0	C7orf30	23307136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.898000	0.75676	2.659000	0.90383	0.655000	0.94253	GCC		0.418	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446	
IGF2BP3	10643	broad.mit.edu	37	7	23387318	23387318	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23387318G>T	ENST00000258729.3	-	7	1075	c.719C>A	c.(718-720)gCt>gAt	p.A240D		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	240	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.A240D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGACTTCTCAGCAGCCCCCGC	0.463																																					p.A240D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719A	7						.						105.0	95.0	98.0					7																	23387318		2203	4300	6503	23353843	SO:0001583	missense	10643	exon7			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.719C>A	7.37:g.23387318G>T	ENSP00000258729:p.Ala240Asp	Somatic		Capture	Illumina HiSeq	Phase_I	23353843	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.916432	0.97099	.	.	ENSG00000136231	ENST00000258729	T	0.38722	1.12	6.07	6.07	0.98685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.046173	0.85682	D	0.000000	T	0.36608	0.0973	N	0.21545	0.675	0.80722	D	1	B	0.32128	0.357	B	0.39152	0.292	T	0.07443	-1.0772	10	0.10111	T	0.7	-14.4133	20.6439	0.99570	0.0:0.0:1.0:0.0	.	240	O00425	IF2B3_HUMAN	D	240	ENSP00000258729:A240D	ENSP00000258729:A240D	A	-	2	0	IGF2BP3	23353843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.890000	0.99128	0.650000	0.86243	GCT		0.463	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
CCDC126	90693	broad.mit.edu	37	7	23682709	23682709	+	Missense_Mutation	SNP	C	C	T	rs146283363		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23682709C>T	ENST00000307471.3	+	4	855	c.398C>T	c.(397-399)aCg>aTg	p.T133M	CCDC126_ENST00000409765.1_Missense_Mutation_p.T133M|CCDC126_ENST00000410069.1_Missense_Mutation_p.T133M	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	133					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.T133M(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AATAAAAGAACGAATGTCTCG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18419	0.001		0.0	False		,,,				2504	0.0				p.T133M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	7						.	C	MET/THR	0,4406		0,0,2203	105.0	89.0	95.0		398	3.5	0.9	7	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC126	NM_138771.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	133/141	23682709	2,13004	2203	4300	6503	23649234	SO:0001583	missense	90693	exon4			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.398C>T	7.37:g.23682709C>T	ENSP00000304355:p.Thr133Met	Somatic		Capture	Illumina HiSeq	Phase_I	23649234	NM_138771	A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.017030	0.19355	0.0	2.33E-4	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000410069	.	.	.	5.8	3.48	0.39840	.	0.643972	0.16193	N	0.225320	T	0.26629	0.0651	N	0.22421	0.69	0.24684	N	0.993343	B	0.30021	0.265	B	0.20955	0.032	T	0.13656	-1.0501	9	0.62326	D	0.03	-7.7871	9.029	0.36247	0.0:0.2247:0.0:0.7753	.	133	Q96EE4	CC126_HUMAN	M	133	.	ENSP00000304355:T133M	T	+	2	0	CCDC126	23649234	0.767000	0.28508	0.851000	0.33527	0.565000	0.35776	0.920000	0.28705	0.479000	0.27511	-0.469000	0.05056	ACG		0.428	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771	
MPP6	51678	broad.mit.edu	37	7	24689344	24689344	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:24689344T>G	ENST00000222644.5	+	4	634	c.384T>G	c.(382-384)atT>atG	p.I128M	MPP6_ENST00000409761.1_Missense_Mutation_p.I16M|MPP6_ENST00000396475.2_Missense_Mutation_p.I128M			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.I128M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TAGATGCCATTCGTATTCTTG	0.363																																					p.I128M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T384G	7						.						100.0	100.0	100.0					7																	24689344		2203	4300	6503	24655869	SO:0001583	missense	51678	exon5			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.384T>G	7.37:g.24689344T>G	ENSP00000222644:p.Ile128Met	Somatic		Capture	Illumina HiSeq	Phase_I	24655869	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353912	0.61293	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.69	3.35	0.38373	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000020	T	0.30070	0.0753	L	0.53671	1.685	0.51233	D	0.999911	P	0.45715	0.865	B	0.43386	0.418	T	0.02098	-1.1214	10	0.40728	T	0.16	.	9.3885	0.38359	0.0:0.1465:0.0:0.8535	.	128	Q9NZW5	MPP6_HUMAN	M	128;128;16;128;128	ENSP00000395859:I128M;ENSP00000222644:I128M;ENSP00000386262:I16M;ENSP00000379737:I128M;ENSP00000391020:I128M	ENSP00000222644:I128M	I	+	3	3	MPP6	24655869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.984000	0.40658	0.449000	0.26747	0.523000	0.50628	ATT		0.363	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
DFNA5	1687	broad.mit.edu	37	7	24784285	24784285	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:24784285C>T	ENST00000342947.3	-	3	725	c.300G>A	c.(298-300)aaG>aaA	p.K100K	DFNA5_ENST00000409775.3_Silent_p.K100K|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	100					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.K100K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCAGGTTCAGCTTGACCTTCC	0.567																																					p.K100K	GBM(78;184 1250 20134 20900 23600)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	7						.						85.0	77.0	80.0					7																	24784285		2203	4300	6503	24750810	SO:0001819	synonymous_variant	1687	exon3			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.300G>A	7.37:g.24784285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24750810	NM_001127453	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																				0.567	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	
OSBPL3	26031	broad.mit.edu	37	7	24882013	24882013	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:24882013T>C	ENST00000313367.2	-	13	1737	c.1286A>G	c.(1285-1287)aAc>aGc	p.N429S	OSBPL3_ENST00000352860.1_Missense_Mutation_p.N398S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.N393S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.N362S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.N393S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.N362S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.N398S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	429					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.N429S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAGAGCTCGGTTTTCATCTCT	0.338																																					p.N393S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1178G	7						.						141.0	154.0	150.0					7																	24882013		2203	4300	6503	24848538	SO:0001583	missense	26031	exon12			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1286A>G	7.37:g.24882013T>C	ENSP00000315410:p.Asn429Ser	Somatic		Capture	Illumina HiSeq	Phase_I	24848538	NM_145321	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	3.094	-0.186220	0.06340	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.40225	2.38;1.04;1.07;2.38;1.04;1.07;2.38	5.4	-3.63	0.04529	.	0.565060	0.19573	N	0.111055	T	0.17789	0.0427	N	0.08118	0	0.22185	N	0.999304	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.005;0.004;0.001;0.0;0.0;0.0	T	0.31280	-0.9949	10	0.02654	T	1	-15.639	15.8901	0.79291	0.0:0.6519:0.0:0.3481	.	362;393;362;398;393;429	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	429;398;393;362;398;393;362	ENSP00000315410:N429S;ENSP00000315331:N398S;ENSP00000315277:N393S;ENSP00000389779:N362S;ENSP00000379708:N398S;ENSP00000379706:N393S;ENSP00000386953:N362S	ENSP00000315410:N429S	N	-	2	0	OSBPL3	24848538	0.035000	0.19736	0.637000	0.29366	0.953000	0.61014	0.095000	0.15127	-0.548000	0.06199	0.460000	0.39030	AAC		0.338	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
NFE2L3	9603	broad.mit.edu	37	7	26225093	26225093	+	Missense_Mutation	SNP	C	C	T	rs374797223		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:26225093C>T	ENST00000056233.3	+	4	2034	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	592	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A592V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AAAGTTGCTGCGCAGAACTGT	0.368																																					p.A592V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1775T	7						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	57.0		1775	5.7	1.0	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NFE2L3	NM_004289.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	592/695	26225093	2,13004	2203	4300	6503	26191618	SO:0001583	missense	9603	exon4			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1775C>T	7.37:g.26225093C>T	ENSP00000056233:p.Ala592Val	Somatic		Capture	Illumina HiSeq	Phase_I	26191618	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199424	0.94997	2.27E-4	1.16E-4	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.95342	-3.68	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98662	1.0684	10	0.87932	D	0	-15.3902	19.4639	0.94931	0.0:1.0:0.0:0.0	.	592	Q9Y4A8	NF2L3_HUMAN	V	592;297	ENSP00000056233:A592V	ENSP00000056233:A592V	A	+	2	0	NFE2L3	26191618	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.070000	0.71220	2.703000	0.92315	0.591000	0.81541	GCG		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1		
HNRNPA2B1	3181	broad.mit.edu	37	7	26237050	26237050	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:26237050C>A	ENST00000354667.4	-	4	353	c.185G>T	c.(184-186)aGa>aTa	p.R62I	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R50I	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.R50I(1)|p.R62I(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCAAATCCTCTTGATCTTTT	0.383			T	ETV1	prostate																																p.R62I			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G185T	7						.						144.0	143.0	143.0					7																	26237050		2203	4300	6503	26203575	SO:0001583	missense	3181	exon4			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.185G>T	7.37:g.26237050C>A	ENSP00000346694:p.Arg62Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26203575	NM_031243	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148092	0.94603	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	T;T	0.11604	2.76;2.76	6.07	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	H	0.99650	4.68	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.961	T	0.77749	-0.2471	10	0.87932	D	0	.	15.381	0.74654	0.0:0.9336:0.0:0.0664	.	50;62	P22626-2;P22626	.;ROA2_HUMAN	I	62;50;50	ENSP00000346694:R62I;ENSP00000349101:R50I	ENSP00000346694:R62I	R	-	2	0	HNRNPA2B1	26203575	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.747000	0.85070	1.583000	0.49898	0.655000	0.94253	AGA		0.383	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137	
HOXA6	3203	broad.mit.edu	37	7	27185431	27185431	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:27185431C>T	ENST00000222728.3	-	2	572	c.548G>A	c.(547-549)cGc>cAc	p.R183H	HOXA6_ENST00000521478.1_5'UTR|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	183					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R183H(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GATGCGGCGGCGCCGTGTCAG	0.607																																					p.R183H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	7						.						158.0	145.0	149.0					7																	27185431		2203	4300	6503	27151956	SO:0001583	missense	3203	exon2				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.548G>A	7.37:g.27185431C>T	ENSP00000222728:p.Arg183His	Somatic		Capture	Illumina HiSeq	Phase_I	27151956	NM_024014	A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007398	0.97195	.	.	ENSG00000106006	ENST00000222728	D	0.96168	-3.93	5.6	5.6	0.85130	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97308	0.9935	10	0.87932	D	0	.	19.6063	0.95583	0.0:1.0:0.0:0.0	.	183	P31267	HXA6_HUMAN	H	183	ENSP00000222728:R183H	ENSP00000222728:R183H	R	-	2	0	HOXA6	27151956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.627000	0.88993	0.561000	0.74099	CGC		0.607	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
TAX1BP1	8887	broad.mit.edu	37	7	27805543	27805543	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:27805543A>G	ENST00000396319.2	+	4	444	c.356A>G	c.(355-357)cAg>cGg	p.Q119R	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.Q119R|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.Q119R|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.Q119R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	119					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.Q119R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACACCTTTCCAGTTTCGAGCT	0.413																																					p.Q119R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A356G	7						.						106.0	99.0	101.0					7																	27805543		2203	4300	6503	27772068	SO:0001583	missense	8887	exon4			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.356A>G	7.37:g.27805543A>G	ENSP00000379612:p.Gln119Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27772068	NM_001079864	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615756	0.87359	.	.	ENSG00000106052	ENST00000418691;ENST00000543117;ENST00000265393;ENST00000409980;ENST00000396319	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.56	5.56	0.83823	.	0.000000	0.50627	D	0.000105	T	0.32852	0.0843	M	0.73962	2.25	0.80722	D	1	D;D	0.61080	0.989;0.976	D;P	0.66497	0.944;0.908	T	0.05550	-1.0878	10	0.87932	D	0	-9.2131	15.7207	0.77708	1.0:0.0:0.0:0.0	.	119;119	Q86VP1;Q86VP1-2	TAXB1_HUMAN;.	R	119	ENSP00000411490:Q119R;ENSP00000444811:Q119R;ENSP00000265393:Q119R;ENSP00000386515:Q119R;ENSP00000379612:Q119R	ENSP00000265393:Q119R	Q	+	2	0	TAX1BP1	27772068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.004000	0.70709	2.110000	0.64415	0.533000	0.62120	CAG		0.413	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
CPVL	54504	broad.mit.edu	37	7	29132291	29132291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:29132291C>A	ENST00000409850.1	-	10	1136	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	CPVL_ENST00000265394.5_Missense_Mutation_p.D164Y|CPVL_ENST00000396276.3_Missense_Mutation_p.D164Y			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	164						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.D164Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCGTGGGTATCATCAGTAAAA	0.458																																					p.D164Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490T	7						.						92.0	76.0	81.0					7																	29132291		2203	4300	6503	29098816	SO:0001583	missense	54504	exon6			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.490G>T	7.37:g.29132291C>A	ENSP00000387164:p.Asp164Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29098816	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975104	0.34848	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.67	0.53	0.17102	.	0.234070	0.49305	D	0.000149	T	0.48352	0.1495	M	0.84433	2.695	0.20074	N	0.999936	D	0.52996	0.957	P	0.53593	0.73	T	0.41945	-0.9480	10	0.52906	T	0.07	-3.59	6.236	0.20764	0.0:0.4653:0.247:0.2877	.	164	Q9H3G5	CPVL_HUMAN	Y	164;164;164;48;94;48;94	ENSP00000265394:D164Y;ENSP00000379572:D164Y;ENSP00000387164:D164Y;ENSP00000409036:D94Y;ENSP00000417015:D48Y;ENSP00000395690:D94Y	ENSP00000265394:D164Y	D	-	1	0	CPVL	29098816	0.025000	0.19082	0.000000	0.03702	0.239000	0.25481	1.668000	0.37481	-0.185000	0.10550	0.561000	0.74099	GAT		0.458	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
MTURN	222166	broad.mit.edu	37	7	30185905	30185905	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:30185905C>A	ENST00000324453.8	+	2	602	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	C7orf41_ENST00000409688.1_Intron|C7orf41_ENST00000455738.1_Missense_Mutation_p.S59Y|C7orf41_ENST00000415604.1_Missense_Mutation_p.S92Y|C7orf41_ENST00000324489.5_Missense_Mutation_p.S59Y	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		92					multicellular organismal development (GO:0007275)			p.S92Y(1)		NS(1)|large_intestine(2)	3						GTCTTCAAGTCTTTCAGACCT	0.517																																					p.S92Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C275A	7						.						54.0	52.0	53.0					7																	30185905		2203	4300	6503	30152430	SO:0001583	missense	222166	exon2																														ENST00000324453.8:c.275C>A	7.37:g.30185905C>A	ENSP00000324204:p.Ser92Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30152430	NM_152793	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149860	0.78001	.	.	ENSG00000180354	ENST00000324453;ENST00000415604;ENST00000434060;ENST00000324489;ENST00000455738	.	.	.	5.55	5.55	0.83447	.	0.064293	0.64402	D	0.000005	T	0.61248	0.2332	N	0.19112	0.55	0.51767	D	0.999934	B	0.28880	0.226	B	0.43018	0.405	T	0.64292	-0.6442	9	0.87932	D	0	-0.417	18.5448	0.91042	0.0:1.0:0.0:0.0	.	92	Q8N3F0	CG041_HUMAN	Y	92;92;75;59;59	.	ENSP00000324204:S92Y	S	+	2	0	C7orf41	30152430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.789000	0.85783	2.622000	0.88805	0.549000	0.68633	TCT		0.517	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1		
GARS	2617	broad.mit.edu	37	7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433																																					p.R412H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A	7						.						179.0	167.0	171.0					7																	30656770		1932	4138	6070	30623295	SO:0001583	missense	2617	exon10			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1235G>A	7.37:g.30656770G>A	ENSP00000373918:p.Arg412His	Somatic		Capture	Illumina HiSeq	Phase_I	30623295	NM_002047	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303525	0.95601	.	.	ENSG00000106105	ENST00000389266	T	0.79247	-1.25	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.89525	0.6740	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91138	0.4943	10	0.87932	D	0	-10.2399	16.6573	0.85232	0.0:0.0:1.0:0.0	.	412	P41250	SYG_HUMAN	H	412	ENSP00000373918:R412H	ENSP00000373918:R412H	R	+	2	0	GARS	30623295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		0.433	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
FAM188B	84182	broad.mit.edu	37	7	30818126	30818126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:30818126C>T	ENST00000265299.6	+	2	219	c.142C>T	c.(142-144)Cga>Tga	p.R48*	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	48								p.R48*(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATGATCTTCGAAAGGTTTT	0.458																																					p.R48X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C142T	7						.						120.0	117.0	118.0					7																	30818126		1948	4139	6087	30784651	SO:0001587	stop_gained	84182	exon2			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.142C>T	7.37:g.30818126C>T	ENSP00000265299:p.Arg48*	Somatic		Capture	Illumina HiSeq	Phase_I	30784651	NM_032222	Q71AZ7|Q9H6D2	Nonsense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	36	5.783585	0.96937	.	.	ENSG00000106125	ENST00000265299	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.0205	12.7199	0.57136	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000265299:R48X	R	+	1	2	FAM188B	30784651	0.985000	0.35326	0.991000	0.47740	0.972000	0.66771	1.386000	0.34419	2.469000	0.83416	0.561000	0.74099	CGA		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
PDE1C	5137	broad.mit.edu	37	7	31917591	31917591	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:31917591C>A	ENST00000396191.1	-	5	939	c.484G>T	c.(484-486)Gca>Tca	p.A162S	PDE1C_ENST00000396184.3_Missense_Mutation_p.A162S|PDE1C_ENST00000396193.1_Missense_Mutation_p.A222S|PDE1C_ENST00000321453.7_Missense_Mutation_p.A162S|PDE1C_ENST00000396182.2_Missense_Mutation_p.A162S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	162					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A162S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACCTTTAATGCCTCAATAACA	0.328																																					p.A162S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G484T	7						.						126.0	118.0	121.0					7																	31917591		2203	4300	6503	31884116	SO:0001583	missense	5137	exon5			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.484G>T	7.37:g.31917591C>A	ENSP00000379494:p.Ala162Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31884116	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850975	0.51270	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.36	5.36	0.76844	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.051900	0.85682	D	0.000000	T	0.63780	0.2540	N	0.11560	0.145	0.43902	D	0.996538	B;B;B	0.17268	0.018;0.021;0.017	B;B;B	0.21708	0.036;0.016;0.007	T	0.57745	-0.7758	10	0.21014	T	0.42	.	19.0315	0.92959	0.0:1.0:0.0:0.0	.	162;222;162	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	222;162;162;162;162	ENSP00000379496:A222S;ENSP00000379494:A162S;ENSP00000318105:A162S;ENSP00000379487:A162S;ENSP00000379485:A162S	ENSP00000318105:A162S	A	-	1	0	PDE1C	31884116	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.772000	0.62324	2.669000	0.90835	0.585000	0.79938	GCA		0.328	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
FKBP9	11328	broad.mit.edu	37	7	33020056	33020056	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:33020056A>G	ENST00000242209.4	+	5	953	c.784A>G	c.(784-786)Att>Gtt	p.I262V	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.I124V|FKBP9_ENST00000490776.2_Missense_Mutation_p.I30V|FKBP9_ENST00000538336.1_Missense_Mutation_p.I315V	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	262					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I30V(1)|p.I262V(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAGCATTTCCATTGAGAACAA	0.468																																					p.I262V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A784G	7						.						145.0	135.0	138.0					7																	33020056		2203	4300	6503	32986581	SO:0001583	missense	11328	exon5			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.784A>G	7.37:g.33020056A>G	ENSP00000242209:p.Ile262Val	Somatic		Capture	Illumina HiSeq	Phase_I	32986581	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	A	5.062	0.197165	0.09599	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.96;0.96	5.06	-0.229	0.13094	.	0.281849	0.35646	N	0.003079	T	0.21347	0.0514	N	0.03917	-0.325	0.41794	D	0.989883	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.32481	-0.9905	10	0.05620	T	0.96	-6.0056	10.5271	0.44954	0.5659:0.0:0.4341:0.0	.	30;315;262;262	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	V	262;315;124;30;30	ENSP00000242209:I262V;ENSP00000439250:I315V;ENSP00000437504:I124V;ENSP00000391034:I30V;ENSP00000441317:I30V	ENSP00000242209:I262V	I	+	1	0	FKBP9	32986581	0.978000	0.34361	0.993000	0.49108	0.997000	0.91878	1.241000	0.32743	-0.013000	0.14199	0.528000	0.53228	ATT		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
FKBP9	11328	broad.mit.edu	37	7	33035903	33035903	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:33035903G>T	ENST00000242209.4	+	7	1337	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.D252Y|FKBP9_ENST00000490776.2_Missense_Mutation_p.D158Y|FKBP9_ENST00000538336.1_Missense_Mutation_p.D443Y	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	390	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.D158Y(1)|p.D390Y(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TAAGAAGGGAGATTACCTCAA	0.527																																					p.D390Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1168T	7						.						99.0	75.0	83.0					7																	33035903		2203	4300	6503	33002428	SO:0001583	missense	11328	exon7			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1168G>T	7.37:g.33035903G>T	ENSP00000242209:p.Asp390Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	33002428	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173017	0.78452	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.04	4.04	0.47022	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.998	D	0.87499	0.2432	10	0.87932	D	0	-7.312	16.5311	0.84359	0.0:0.0:1.0:0.0	.	158;443;390	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	Y	390;443;252;158;158	ENSP00000242209:D390Y;ENSP00000439250:D443Y;ENSP00000437504:D252Y;ENSP00000391034:D158Y;ENSP00000441317:D158Y	ENSP00000242209:D390Y	D	+	1	0	FKBP9	33002428	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.700000	0.98707	1.956000	0.56807	0.484000	0.47621	GAT		0.527	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
BBS9	27241	broad.mit.edu	37	7	33397476	33397476	+	Missense_Mutation	SNP	G	G	A	rs34218557	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:33397476G>A	ENST00000242067.6	+	16	2083	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	BBS9_ENST00000396127.2_Missense_Mutation_p.R486Q|BBS9_ENST00000355070.2_Missense_Mutation_p.R516Q|BBS9_ENST00000350941.3_Missense_Mutation_p.R481Q|BBS9_ENST00000354265.4_Missense_Mutation_p.R486Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	521			R -> Q (in dbSNP:rs34218557).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R521Q(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGCATTCCGCGAGTTATCCAA	0.323									Bardet-Biedl syndrome				G|||	43	0.00858626	0.0325	0.0	5008	,	,		15352	0.0		0.0	False		,,,				2504	0.0				p.R516Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1547A	7						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	151,4255	102.5+/-141.1	3,145,2055	97.0	105.0	102.0		1457,1547,1442,1562	5.9	1.0	7	dbSNP_126	102	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense,missense	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	43,43,43,43	3,146,6353	AA,AG,GG		0.0116,3.4271,1.1689	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	486/853,516/883,481/848,521/888	33397476	152,12852	2203	4299	6502	33364001	SO:0001583	missense	27241	exon15	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1562G>A	7.37:g.33397476G>A	ENSP00000242067:p.Arg521Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33364001	NM_001033605	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	13|13	0.005952380952380952|0.005952380952380952	13|13	0.026422764227642278|0.026422764227642278	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	23.6|23.6	4.435147|4.435147	0.83885|0.83885	0.034271|0.034271	1.16E-4|1.16E-4	ENSG00000122507|ENSG00000122507	ENST00000537775|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|T;T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14;2.14	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.128329	.|0.49305	.|D	.|0.000159	T|T	0.11965|0.11965	0.0291|0.0291	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46020	.|0.792;0.871;0.871;0.871;0.792	.|P;P;P;P;B	.|0.48677	.|0.486;0.586;0.524;0.586;0.328	T|T	0.00167|0.00167	-1.1964|-1.1964	6|10	0.42905|0.42905	T|T	0.14|0.14	-16.6125|-16.6125	11.6558|11.6558	0.51318|0.51318	0.1104:0.0:0.8896:0.0|0.1104:0.0:0.8896:0.0	rs34218557|rs34218557	.|521;481;516;486;521	.|Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.|.;.;.;.;PTHB1_HUMAN	K|Q	399|521;481;486;516;486;521	.|ENSP00000242067:R521Q;ENSP00000313122:R481Q;ENSP00000379433:R486Q;ENSP00000347182:R516Q;ENSP00000346214:R486Q	ENSP00000441763:E399K|ENSP00000242067:R521Q	E|R	+|+	1|2	0|0	BBS9|BBS9	33364001|33364001	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.991000|0.991000	0.79684|0.79684	3.641000|3.641000	0.54360|0.54360	2.823000|2.823000	0.97156|0.97156	0.643000|0.643000	0.83706|0.83706	GAG|CGA		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
NPSR1	387129	broad.mit.edu	37	7	34867042	34867042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:34867042G>A	ENST00000360581.1	+	5	636	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	NPSR1_ENST00000359791.1_Missense_Mutation_p.A170T|NPSR1_ENST00000531252.1_Missense_Mutation_p.A159T|NPSR1_ENST00000381542.1_Missense_Mutation_p.A104T|NPSR1_ENST00000381539.3_Missense_Mutation_p.A170T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	170						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.A170T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATTGTGATCGCCTGGAGCCT	0.512																																					p.A170T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G508A	7						.						105.0	90.0	95.0					7																	34867042		2203	4300	6503	34833567	SO:0001583	missense	387129	exon5			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.508G>A	7.37:g.34867042G>A	ENSP00000353788:p.Ala170Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34833567	NM_207172	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715802	0.48622	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.77558	0.4148	L	0.48174	1.505	0.45777	D	0.998669	D;D;D;D;D;D	0.76494	0.999;0.992;0.999;0.999;0.992;0.997	D;P;P;D;P;D	0.68353	0.941;0.767;0.823;0.957;0.75;0.957	T	0.75156	-0.3417	10	0.34782	T	0.22	-26.7588	13.258	0.60089	0.0:0.0:0.8415:0.1585	.	104;159;104;170;170;170	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	T	170;104;170;159;170;33	ENSP00000353788:A170T;ENSP00000370953:A104T;ENSP00000352839:A170T;ENSP00000433258:A159T;ENSP00000370950:A170T	ENSP00000334093:A33T	A	+	1	0	NPSR1	34833567	1.000000	0.71417	0.954000	0.39281	0.255000	0.26057	3.921000	0.56454	2.553000	0.86117	0.655000	0.94253	GCC		0.512	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
DPY19L1	23333	broad.mit.edu	37	7	34997603	34997603	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:34997603A>C	ENST00000310974.4	-	11	1097	c.953T>G	c.(952-954)aTt>aGt	p.I318S	DPY19L1_ENST00000462134.2_Intron	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	318						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I318S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCCAAATAATTACCAAAGA	0.303																																					p.I318S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T953G	7						.						52.0	46.0	48.0					7																	34997603		1801	4055	5856	34964128	SO:0001583	missense	23333	exon11			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.953T>G	7.37:g.34997603A>C	ENSP00000308695:p.Ile318Ser	Somatic		Capture	Illumina HiSeq	Phase_I	34964128	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	1.470	-0.560027	0.03967	.	.	ENSG00000173852	ENST00000310974	T	0.51817	0.69	5.22	4.08	0.47627	.	0.251092	0.42682	D	0.000672	T	0.15522	0.0374	N	0.00991	-1.07	0.30569	N	0.763737	B	0.02656	0.0	B	0.11329	0.006	T	0.23119	-1.0197	10	0.06365	T	0.9	-10.5138	8.9954	0.36050	0.9132:0.0:0.0868:0.0	.	318	Q2PZI1	D19L1_HUMAN	S	318	ENSP00000308695:I318S	ENSP00000308695:I318S	I	-	2	0	DPY19L1	34964128	0.998000	0.40836	0.999000	0.59377	0.908000	0.53690	2.695000	0.47043	1.015000	0.39444	0.482000	0.46254	ATT		0.303	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
HERPUD2	64224	broad.mit.edu	37	7	35733798	35733798	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:35733798T>G	ENST00000396081.1	-	1	947	c.143A>C	c.(142-144)aAa>aCa	p.K48T	HERPUD2_ENST00000311350.3_Missense_Mutation_p.K48T|RP11-379H18.1_ENST00000605778.1_RNA	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.K48T(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ACTTACTGGTTTGCTAGGGTA	0.478																																					p.K48T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A143C	7						.						158.0	159.0	159.0					7																	35733798		2203	4300	6503	35700323	SO:0001583	missense	64224	exon2			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.143A>C	7.37:g.35733798T>G	ENSP00000379390:p.Lys48Thr	Somatic		Capture	Illumina HiSeq	Phase_I	35700323	NM_022373	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453257	0.63290	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	3.53	1.21	0.21127	Ubiquitin supergroup (1);Ubiquitin (2);	0.166270	0.51477	D	0.000085	T	0.47340	0.1440	L	0.52905	1.665	0.58432	D	0.999999	D	0.60575	0.988	P	0.58266	0.836	T	0.32640	-0.9899	10	0.40728	T	0.16	-22.2324	7.1777	0.25755	0.0:0.2004:0.0:0.7996	.	48	Q9BSE4	HERP2_HUMAN	T	48	ENSP00000379390:K48T;ENSP00000310729:K48T;ENSP00000415475:K48T;ENSP00000391015:K48T;ENSP00000412895:K48T	ENSP00000310729:K48T	K	-	2	0	HERPUD2	35700323	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.691000	0.47010	0.254000	0.21573	0.383000	0.25322	AAA		0.478	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
ELMO1	9844	broad.mit.edu	37	7	37262259	37262259	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:37262259A>C	ENST00000310758.4	-	10	1388	c.741T>G	c.(739-741)atT>atG	p.I247M	ELMO1_ENST00000448602.1_Missense_Mutation_p.I247M|ELMO1_ENST00000442504.1_Missense_Mutation_p.I247M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	247					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.I247M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAAGCGCATTAATCACTGCAA	0.423																																					p.I247M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T741G	7						.						140.0	128.0	132.0					7																	37262259		2203	4300	6503	37228784	SO:0001583	missense	9844	exon10			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.741T>G	7.37:g.37262259A>C	ENSP00000312185:p.Ile247Met	Somatic		Capture	Illumina HiSeq	Phase_I	37228784	NM_014800	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.953385|3.953385	0.73902|0.73902	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T|.	0.55413|.	0.52;0.52;0.52|.	5.66|5.66	-8.95|-8.95	0.00765|0.00765	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.67590|.	0.2909|.	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	D|.	0.65323|.	0.934|.	T|.	0.76526|.	-0.2927|.	10|.	0.36615|.	T|.	0.2|.	.|.	13.1338|13.1338	0.59397|0.59397	0.1281:0.0:0.6719:0.2|0.1281:0.0:0.6719:0.2	.|.	247|.	Q92556|.	ELMO1_HUMAN|.	M|X	247;151;247;247|12	ENSP00000312185:I247M;ENSP00000406952:I247M;ENSP00000394458:I247M|.	ENSP00000312185:I247M|.	I|L	-|-	3|2	3|0	ELMO1|ELMO1	37228784|37228784	0.999000|0.999000	0.42202|0.42202	0.882000|0.882000	0.34594|0.34594	0.836000|0.836000	0.47400|0.47400	0.452000|0.452000	0.21795|0.21795	-1.264000|-1.264000	0.02452|0.02452	0.533000|0.533000	0.62120|0.62120	ATT|TTA		0.423	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
ELMO1	9844	broad.mit.edu	37	7	37354457	37354457	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:37354457T>A	ENST00000310758.4	-	4	836	c.189A>T	c.(187-189)gaA>gaT	p.E63D	ELMO1_ENST00000448602.1_Missense_Mutation_p.E63D|ELMO1_ENST00000442504.1_Missense_Mutation_p.E63D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	63					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.E63D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACCTACCTTTTCTGTGATAT	0.353																																					p.E63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A189T	7						.						101.0	94.0	96.0					7																	37354457		2203	4300	6503	37320982	SO:0001583	missense	9844	exon4			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.189A>T	7.37:g.37354457T>A	ENSP00000312185:p.Glu63Asp	Somatic		Capture	Illumina HiSeq	Phase_I	37320982	NM_014800	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144800	0.77888	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	T;T;T;T;T;T	0.57107	2.16;2.16;2.16;1.08;1.02;0.42	4.85	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66224	-0.5977	10	0.36615	T	0.2	.	6.7881	0.23685	0.0:0.2462:0.0:0.7538	.	63	Q92556	ELMO1_HUMAN	D	63	ENSP00000312185:E63D;ENSP00000406952:E63D;ENSP00000394458:E63D;ENSP00000406610:E63D;ENSP00000416090:E63D;ENSP00000391734:E63D	ENSP00000312185:E63D	E	-	3	2	ELMO1	37320982	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.080000	0.30779	1.021000	0.39600	0.528000	0.53228	GAA		0.353	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
NME8	51314	broad.mit.edu	37	7	37901671	37901671	+	Silent	SNP	G	G	A	rs536359204		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:37901671G>A	ENST00000199447.4	+	7	684	c.312G>A	c.(310-312)ccG>ccA	p.P104P	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.P104P	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	104	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.P104P(1)									CAAATGCACCGCTTGTTAATA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18239	0.0		0.0	False		,,,				2504	0.0				p.P104P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G312A	7						.						59.0	63.0	62.0					7																	37901671		2203	4300	6503	37868196	SO:0001819	synonymous_variant	51314	exon7			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.312G>A	7.37:g.37901671G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37868196	NM_016616	Q9NZH1	Silent	SNP	ENST00000199447.4	37	CCDS5452.1																																																																																				0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
NME8	51314	broad.mit.edu	37	7	37903064	37903064	+	Splice_Site	SNP	C	C	T	rs199901385	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:37903064C>T	ENST00000199447.4	+	8	826	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site_p.Q152*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	152					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.Q152*(1)									TGAAAGTGTTCGTAAGTAAAT	0.363													C|||	15	0.00299521	0.0	0.0	5008	,	,		17670	0.0		0.0	False		,,,				2504	0.0153				p.Q152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C454T	7						.						102.0	106.0	105.0					7																	37903064		2203	4300	6503	37869589	SO:0001630	splice_region_variant	51314	exon8			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.454+1C>T	7.37:g.37903064C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37869589	NM_016616	Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053335	0.55218	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	3.62	1.78	0.24846	.	2.983660	0.00944	N	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.7773	5.9965	0.19497	0.0:0.2619:0.5432:0.1949	.	.	.	.	X	152;97;97;152	.	ENSP00000199447:Q152X	Q	+	1	0	TXNDC3	37869589	0.800000	0.28916	0.533000	0.28001	0.044000	0.14063	0.899000	0.28417	0.483000	0.27608	-0.229000	0.12294	CAG		0.363	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Nonsense_Mutation
SFRP4	6424	broad.mit.edu	37	7	37949242	37949242	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:37949242C>A	ENST00000436072.2	-	5	1209	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	278	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D278Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTAAGCTGATCTCTCCATTTT	0.308																																					p.D278Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832T	7						.						161.0	148.0	152.0					7																	37949242		2202	4299	6501	37915767	SO:0001583	missense	6424	exon5			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.832G>T	7.37:g.37949242C>A	ENSP00000410715:p.Asp278Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37915767	NM_003014	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711052	0.89112	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.25749	1.78	5.91	5.91	0.95273	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.265995	0.42053	D	0.000765	T	0.47116	0.1428	L	0.52573	1.65	0.53688	D	0.999975	D	0.56521	0.976	D	0.65684	0.937	T	0.30707	-0.9969	10	0.87932	D	0	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	278	Q6FHJ7	SFRP4_HUMAN	Y	278;275	ENSP00000410715:D278Y	ENSP00000410715:D278Y	D	-	1	0	SFRP4	37915767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.764000	0.68826	2.809000	0.96659	0.555000	0.69702	GAT		0.308	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
STARD3NL	83930	broad.mit.edu	37	7	38254661	38254661	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:38254661A>G	ENST00000009041.7	+	4	593	c.336A>G	c.(334-336)atA>atG	p.I112M	STARD3NL_ENST00000544203.1_Missense_Mutation_p.I105M|STARD3NL_ENST00000396013.1_Missense_Mutation_p.I112M|STARD3NL_ENST00000434197.1_Missense_Mutation_p.I112M	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	112	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.I112M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						AAGTGTTAATACTTGCATATG	0.413																																					p.I112M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A336G	7						.						124.0	111.0	115.0					7																	38254661		2203	4300	6503	38221186	SO:0001583	missense	83930	exon4			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.336A>G	7.37:g.38254661A>G	ENSP00000009041:p.Ile112Met	Somatic		Capture	Illumina HiSeq	Phase_I	38221186	NM_032016	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.730165	0.69074	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.94	-1.98	0.07480	MENTAL domain (2);	0.038336	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73217	2.22	0.41585	D	0.988764	D;D	0.63880	0.993;0.993	D;D	0.71184	0.972;0.958	T	0.61671	-0.7015	10	0.48119	T	0.1	-10.073	11.5144	0.50513	0.4024:0.5041:0.0:0.0936	.	112;112	C9JKL2;O95772	.;MENTO_HUMAN	M	112;105;112;112;112;112;112	ENSP00000009041:I112M;ENSP00000439436:I105M;ENSP00000394000:I112M;ENSP00000379334:I112M;ENSP00000411933:I112M;ENSP00000395455:I112M;ENSP00000402028:I112M	ENSP00000009041:I112M	I	+	3	3	STARD3NL	38221186	0.998000	0.40836	0.991000	0.47740	0.995000	0.86356	0.740000	0.26188	-0.133000	0.11537	0.523000	0.50628	ATA		0.413	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		
AMPH	273	broad.mit.edu	37	7	38514995	38514995	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:38514995C>T	ENST00000356264.2	-	7	741	c.526G>A	c.(526-528)Gca>Aca	p.A176T	AMPH_ENST00000428293.2_Missense_Mutation_p.A176T|AMPH_ENST00000325590.5_Missense_Mutation_p.A176T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	176	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A176T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTTTCTGTGCTTTCTGAAAT	0.333																																					p.A176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	7						.						144.0	117.0	126.0					7																	38514995		2202	4299	6501	38481520	SO:0001583	missense	273	exon7				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.526G>A	7.37:g.38514995C>T	ENSP00000348602:p.Ala176Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38481520	NM_001635	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995162	0.93167	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	D;D;D	0.83837	-1.77;-1.77;-1.77	6.02	6.02	0.97574	BAR (3);	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91444	0.5176	10	0.66056	D	0.02	-24.0472	19.3122	0.94192	0.0:1.0:0.0:0.0	.	176;176	P49418-2;P49418	.;AMPH_HUMAN	T	176	ENSP00000317441:A176T;ENSP00000348602:A176T;ENSP00000390734:A176T	ENSP00000317441:A176T	A	-	1	0	AMPH	38481520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.893000	0.75649	2.865000	0.98341	0.655000	0.94253	GCA		0.333	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
VPS41	27072	broad.mit.edu	37	7	38810821	38810821	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:38810821T>A	ENST00000310301.4	-	14	1216	c.1162A>T	c.(1162-1164)Aat>Tat	p.N388Y	VPS41_ENST00000395969.2_Missense_Mutation_p.N363Y|VPS41_ENST00000466017.1_5'Flank	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	388					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.N388Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTTTAATATTTTTTTGGCTA	0.279																																					p.N388Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1162T	7						.						63.0	66.0	65.0					7																	38810821		2202	4297	6499	38777346	SO:0001583	missense	27072	exon14			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1162A>T	7.37:g.38810821T>A	ENSP00000309457:p.Asn388Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38777346	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714997	0.48622	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.17691	2.26;2.26	6.17	6.17	0.99709	.	0.078820	0.85682	D	0.000000	T	0.19685	0.0473	L	0.55481	1.735	0.58432	D	0.999998	B;B;B	0.33448	0.412;0.412;0.412	B;B;B	0.27887	0.054;0.084;0.084	T	0.01071	-1.1461	10	0.59425	D	0.04	-21.6019	16.8222	0.85835	0.0:0.0:0.0:1.0	.	388;363;388	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Y	388;363	ENSP00000309457:N388Y;ENSP00000379297:N363Y	ENSP00000309457:N388Y	N	-	1	0	VPS41	38777346	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.524000	0.81866	2.371000	0.80710	0.533000	0.62120	AAT		0.279	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
SUGCT	79783	broad.mit.edu	37	7	40488938	40488938	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:40488938A>T	ENST00000335693.4	+	10	913	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	C7orf10_ENST00000401647.2_Missense_Mutation_p.Q249L|C7orf10_ENST00000309930.5_Missense_Mutation_p.Q297L	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		297					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.Q297L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AATAACCAGCAGTTTGCCACC	0.368																																					p.Q249L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A746T	7						.						112.0	107.0	109.0					7																	40488938		1832	4092	5924	40455463	SO:0001583	missense	79783	exon9																														ENST00000335693.4:c.890A>T	7.37:g.40488938A>T	ENSP00000338475:p.Gln297Leu	Somatic		Capture	Illumina HiSeq	Phase_I	40455463	NM_001193312	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.051|0.051	-1.251194|-1.251194	0.01469|0.01469	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.57436|.	0.4;0.4;0.4|.	5.4|5.4	4.25|4.25	0.50352|0.50352	CoA-transferase family III domain (2);|.	0.061134|.	0.64402|.	D|.	0.000003|.	T|T	0.56426|0.56426	0.1984|0.1984	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;B;P|.	0.43094|.	0.482;0.289;0.799|.	P;P;P|.	0.44946|.	0.461;0.461;0.465|.	T|T	0.51865|0.51865	-0.8651|-0.8651	10|5	0.21540|.	T|.	0.41|.	-4.0864|-4.0864	9.1945|9.1945	0.37220|0.37220	0.9157:0.0:0.0843:0.0|0.9157:0.0:0.0843:0.0	.|.	249;297;260|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	L|C	297;249;297|292	ENSP00000312054:Q297L;ENSP00000385222:Q249L;ENSP00000338475:Q297L|.	ENSP00000312054:Q297L|.	Q|S	+|+	2|1	0|0	C7orf10|C7orf10	40455463|40455463	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.158000|0.158000	0.22134|0.22134	3.687000|3.687000	0.54692|0.54692	0.992000|0.992000	0.38840|0.38840	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.368	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
INHBA	3624	broad.mit.edu	37	7	41729612	41729612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:41729612C>T	ENST00000242208.4	-	3	1163	c.917G>A	c.(916-918)cGc>cAc	p.R306H	INHBA_ENST00000442711.1_Missense_Mutation_p.R306H|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	306					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R306P(1)|p.R306H(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCGACGCCGGCGATGAGGGTG	0.572										TSP Lung(11;0.080)																											p.R306H												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G917A	7						.						101.0	105.0	103.0					7																	41729612		2203	4300	6503	41696137	SO:0001583	missense	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.917G>A	7.37:g.41729612C>T	ENSP00000242208:p.Arg306His	Somatic		Capture	Illumina HiSeq	Phase_I	41696137	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.029448	0.35797	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.81163	-1.46;-1.46	5.82	5.82	0.92795	Transforming growth factor-beta, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	D	0.87530	0.2452	10	0.51188	T	0.08	-23.4561	14.2745	0.66170	0.0:0.9291:0.0:0.0709	.	306	P08476	INHBA_HUMAN	H	306	ENSP00000242208:R306H;ENSP00000397197:R306H	ENSP00000242208:R306H	R	-	2	0	INHBA	41696137	1.000000	0.71417	0.957000	0.39632	0.986000	0.74619	3.977000	0.56874	2.762000	0.94881	0.484000	0.47621	CGC		0.572	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
INHBA	3624	broad.mit.edu	37	7	41729739	41729739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:41729739C>A	ENST00000242208.4	-	3	1036	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	INHBA_ENST00000442711.1_Nonsense_Mutation_p.E264*|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	264					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.E264*(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ccctcctcttctttcttcttc	0.587										TSP Lung(11;0.080)																											p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	7						.						36.0	37.0	37.0					7																	41729739		2203	4300	6503	41696264	SO:0001587	stop_gained	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.790G>T	7.37:g.41729739C>A	ENSP00000242208:p.Glu264*	Somatic		Capture	Illumina HiSeq	Phase_I	41696264	NM_002192	Q14599	Nonsense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	38	7.027664	0.98013	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	5.69	5.69	0.88448	.	0.588048	0.16367	N	0.217508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-10.0525	17.5953	0.88010	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000242208:E264X	E	-	1	0	INHBA	41696264	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.221000	0.65272	2.697000	0.92050	0.585000	0.79938	GAA		0.587	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GLI3	2737	broad.mit.edu	37	7	42005464	42005464	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:42005464G>T	ENST00000395925.3	-	15	3291	c.3207C>A	c.(3205-3207)atC>atA	p.I1069I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1069					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1069I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGTTCTCGGTGATGCTGGGAG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.I1069I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3207A	7						.						64.0	66.0	65.0					7																	42005464		2203	4300	6503	41971989	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3207C>A	7.37:g.42005464G>T		Somatic		Capture	Illumina HiSeq	Phase_I	41971989	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.602	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
C7orf25	79020	broad.mit.edu	37	7	42949301	42949301	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:42949301A>C	ENST00000350427.4	-	2	1474	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	C7orf25_ENST00000431882.2_Missense_Mutation_p.L458R|C7orf25_ENST00000438029.1_Missense_Mutation_p.L400R|C7orf25_ENST00000447342.1_Missense_Mutation_p.L400R|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	400								p.L400R(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACTCTCAGTAAGTGCTCTGGG	0.408																																					p.L400R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1199G	7						.						100.0	99.0	99.0					7																	42949301		2203	4300	6503	42915826	SO:0001583	missense	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1199T>G	7.37:g.42949301A>C	ENSP00000343364:p.Leu400Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42915826	NM_024054	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680149	0.68042	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89559	0.3805	10	0.87932	D	0	-14.7907	16.6154	0.84909	1.0:0.0:0.0:0.0	.	458;400	B4DQM3;Q9BPX7	.;CG025_HUMAN	R	400;400;458;400	ENSP00000343364:L400R;ENSP00000413029:L400R;ENSP00000416290:L458R;ENSP00000396597:L400R	ENSP00000343364:L400R	L	-	2	0	C7orf25	42915826	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.957000	0.93082	2.315000	0.78130	0.533000	0.62120	CTT		0.408	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
HECW1	23072	broad.mit.edu	37	7	43484745	43484745	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:43484745C>T	ENST00000395891.2	+	11	2579	c.1974C>T	c.(1972-1974)agC>agT	p.S658S	HECW1_ENST00000453890.1_Silent_p.S658S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	658					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S637S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCGAGAGCGACTCCAGCC	0.711																																					p.S658S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1974T	7						.						20.0	26.0	24.0					7																	43484745		2146	4231	6377	43451270	SO:0001819	synonymous_variant	23072	exon11			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1974C>T	7.37:g.43484745C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43451270	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
HECW1	23072	broad.mit.edu	37	7	43547676	43547676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:43547676C>T	ENST00000395891.2	+	23	4417	c.3812C>T	c.(3811-3813)tCg>tTg	p.S1271L	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.S1237L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1271	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S1250L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGGCCTATTCGCGGAAAGAG	0.542																																					p.S1271L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3812T	7						.						81.0	83.0	83.0					7																	43547676		1951	4153	6104	43514201	SO:0001583	missense	23072	exon23			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3812C>T	7.37:g.43547676C>T	ENSP00000379228:p.Ser1271Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43514201	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	36	5.658816	0.96734	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.48201	0.82;0.82	5.85	5.85	0.93711	HECT (3);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.97	T	0.72633	-0.4234	10	0.87932	D	0	.	20.1669	0.98153	0.0:1.0:0.0:0.0	.	1237;1271	B4DH42;Q76N89	.;HECW1_HUMAN	L	1271;1237;1271	ENSP00000379228:S1271L;ENSP00000407774:S1237L	ENSP00000265522:S1271L	S	+	2	0	HECW1	43514201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.750000	0.85110	2.770000	0.95276	0.650000	0.86243	TCG		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
BLVRA	644	broad.mit.edu	37	7	43827621	43827621	+	Missense_Mutation	SNP	C	C	T	rs387906596		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:43827621C>T	ENST00000402924.1	+	4	294	c.131C>T	c.(130-132)tCg>tTg	p.S44L	BLVRA_ENST00000265523.4_Missense_Mutation_p.S44L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	44					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.S44L(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGCTTCGTGTCGAGGTGGCTC	0.567																																					p.S44L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C131T	7						.						212.0	165.0	181.0					7																	43827621		2203	4300	6503	43794146	SO:0001583	missense	644	exon3			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.131C>T	7.37:g.43827621C>T	ENSP00000385757:p.Ser44Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43794146	NM_000712	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054595	0.75960	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.26518	1.73;1.73;1.73	5.05	5.05	0.67936	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.89214	3.015	0.58432	D	0.999991	D	0.76494	0.999	P	0.62014	0.897	T	0.57734	-0.7760	10	0.33141	T	0.24	-18.2224	16.2838	0.82709	0.0:1.0:0.0:0.0	.	44	P53004	BIEA_HUMAN	L	44	ENSP00000265523:S44L;ENSP00000385757:S44L;ENSP00000412005:S44L	ENSP00000265523:S44L	S	+	2	0	BLVRA	43794146	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	3.865000	0.56033	2.522000	0.85027	0.555000	0.69702	TCG		0.567	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712	
NPC1L1	29881	broad.mit.edu	37	7	44578706	44578706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:44578706C>A	ENST00000289547.4	-	2	1345	c.1290G>T	c.(1288-1290)aaG>aaT	p.K430N	NPC1L1_ENST00000546276.1_Missense_Mutation_p.K430N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K430N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K430N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	430					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.K430N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGCTGAAGTTCTTGGGCCCCA	0.602																																					p.K430N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1290T	7						.						57.0	63.0	61.0					7																	44578706		2203	4300	6503	44545231	SO:0001583	missense	29881	exon2				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1290G>T	7.37:g.44578706C>A	ENSP00000289547:p.Lys430Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44545231	NM_001101648	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.335090	0.24253	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.05	5.05	0.67936	.	0.272363	0.36444	N	0.002599	D	0.83261	0.5216	L	0.48877	1.53	0.41522	D	0.988407	B;B;B;B	0.20052	0.0;0.041;0.005;0.014	B;B;B;B	0.17433	0.001;0.018;0.006;0.007	T	0.79112	-0.1937	10	0.27785	T	0.31	-25.4631	15.8823	0.79213	0.0:1.0:0.0:0.0	.	430;430;430;430	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	430	ENSP00000289547:K430N;ENSP00000370552:K430N;ENSP00000438033:K430N;ENSP00000404670:K430N	ENSP00000289547:K430N	K	-	3	2	NPC1L1	44545231	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.288000	0.33296	2.342000	0.79632	0.462000	0.41574	AAG		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
MYO1G	64005	broad.mit.edu	37	7	45014805	45014805	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:45014805C>T	ENST00000258787.7	-	5	722	c.586G>A	c.(586-588)Gtg>Atg	p.V196M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	196	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V196M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTTTCACCCACGTGCTGCTTG	0.597																																					p.V196M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586A	7						.						227.0	219.0	222.0					7																	45014805		2203	4300	6503	44981330	SO:0001583	missense	64005	exon5			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.586G>A	7.37:g.45014805C>T	ENSP00000258787:p.Val196Met	Somatic		Capture	Illumina HiSeq	Phase_I	44981330	NM_033054	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.701282	0.48307	.	.	ENSG00000136286	ENST00000258787	D	0.87256	-2.23	4.82	1.86	0.25419	Myosin head, motor domain (2);	0.726614	0.11295	N	0.578856	T	0.79644	0.4481	L	0.28192	0.835	0.09310	N	1	P;P	0.50369	0.934;0.893	P;P	0.48368	0.536;0.575	T	0.69851	-0.5033	10	0.49607	T	0.09	.	1.6308	0.02732	0.1479:0.4067:0.2584:0.1871	.	196;196	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	196	ENSP00000258787:V196M	ENSP00000258787:V196M	V	-	1	0	MYO1G	44981330	0.149000	0.22717	0.951000	0.38953	0.952000	0.60782	1.097000	0.30988	1.170000	0.42753	-0.119000	0.15052	GTG		0.597	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
RAMP3	10268	broad.mit.edu	37	7	45222997	45222997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:45222997G>A	ENST00000242249.4	+	3	471	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RAMP3_ENST00000496212.1_Missense_Mutation_p.D145N|RAMP3_ENST00000481345.1_Missense_Mutation_p.D145N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	145					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.D145N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627																																					p.D145N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	7						.						97.0	89.0	92.0					7																	45222997		2203	4300	6503	45189522	SO:0001583	missense	10268	exon3			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.433G>A	7.37:g.45222997G>A	ENSP00000242249:p.Asp145Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45189522	NM_005856	Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149725	0.78001	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.45668	0.89;0.89;0.89	4.37	3.46	0.39613	.	0.163209	0.52532	D	0.000077	T	0.62036	0.2395	M	0.78801	2.425	0.47994	D	0.999569	D	0.89917	1.0	D	0.69307	0.963	T	0.65429	-0.6170	10	0.72032	D	0.01	-25.0987	11.8561	0.52437	0.0:0.1786:0.8214:0.0	.	145	O60896	RAMP3_HUMAN	N	145	ENSP00000242249:D145N;ENSP00000419012:D145N;ENSP00000418460:D145N	ENSP00000242249:D145N	D	+	1	0	RAMP3	45189522	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	5.299000	0.65716	0.779000	0.33543	0.655000	0.94253	GAC		0.627	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
IGFBP1	3484	broad.mit.edu	37	7	45930294	45930294	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:45930294T>C	ENST00000275525.3	+	2	793	c.497T>C	c.(496-498)gTc>gCc	p.V166A	IGFBP1_ENST00000457280.1_Missense_Mutation_p.V166A|IGFBP1_ENST00000468955.1_Missense_Mutation_p.V166A	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)	p.V166A(1)		large_intestine(2)|lung(4)	6						GCTCTCCATGTCACCAACATC	0.527											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V166A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T497C	7						.						105.0	104.0	104.0					7																	45930294		2203	4300	6503	45896819	SO:0001583	missense	3484	exon2				CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.497T>C	7.37:g.45930294T>C	ENSP00000275525:p.Val166Ala	Somatic	935	Capture	Illumina HiSeq	Phase_I	45896819	NM_000596	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	T	8.827	0.939034	0.18281	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.27402	1.67;1.67;2.76	4.15	-3.59	0.04583	Thyroglobulin type-1 (1);	1.932060	0.02689	N	0.110446	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.09377	0.001;0.004;0.002	T	0.14896	-1.0456	10	0.07990	T	0.79	-23.5142	4.4279	0.11513	0.1716:0.428:0.0:0.4004	.	166;166;166	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	A	166	ENSP00000275525:V166A;ENSP00000413511:V166A;ENSP00000417069:V166A	ENSP00000275525:V166A	V	+	2	0	IGFBP1	45896819	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.440000	0.06888	-0.561000	0.06094	-0.484000	0.04775	GTC		0.527	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596	
IGFBP1	3484	broad.mit.edu	37	7	45931541	45931541	+	Missense_Mutation	SNP	G	G	A	rs369196046		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:45931541G>A	ENST00000275525.3	+	3	826	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	IGFBP1_ENST00000457280.1_Missense_Mutation_p.R177Q|IGFBP1_ENST00000468955.1_Intron	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	177	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)	p.R177Q(1)		large_intestine(2)|lung(4)	6						GAGCCCTGCCGAATAGAACTC	0.413											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R177Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	7						.	G	GLN/ARG	0,4406		0,0,2203	66.0	65.0	66.0		530	-0.6	0.0	7		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFBP1	NM_000596.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	177/260	45931541	1,13005	2203	4300	6503	45898066	SO:0001583	missense	3484	exon3				CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.530G>A	7.37:g.45931541G>A	ENSP00000275525:p.Arg177Gln	Somatic	935	Capture	Illumina HiSeq	Phase_I	45898066	NM_000596	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.529159	0.00951	0.0	1.16E-4	ENSG00000146678	ENST00000275525;ENST00000457280	T;T	0.62105	0.05;0.05	4.96	-0.618	0.11576	Thyroglobulin type-1 (3);	0.401151	0.29508	N	0.011941	T	0.30479	0.0766	N	0.04787	-0.16	0.58432	D	0.999999	B;B	0.16166	0.016;0.016	B;B	0.20577	0.03;0.03	T	0.34229	-0.9837	10	0.02654	T	1	-18.2663	8.6843	0.34227	0.6117:0.0:0.3883:0.0	.	177;177	P08833;C9JXF9	IBP1_HUMAN;.	Q	177	ENSP00000275525:R177Q;ENSP00000413511:R177Q	ENSP00000275525:R177Q	R	+	2	0	IGFBP1	45898066	0.995000	0.38212	0.035000	0.18076	0.038000	0.13279	3.316000	0.51960	-0.278000	0.09180	-0.345000	0.07892	CGA		0.413	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596	
TNS3	64759	broad.mit.edu	37	7	47344434	47344434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:47344434C>A	ENST00000398879.1	-	21	3184	c.2818G>T	c.(2818-2820)Gag>Tag	p.E940*	TNS3_ENST00000355730.3_Nonsense_Mutation_p.E700*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.E940*			Q68CZ2	TENS3_HUMAN	tensin 3	940					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.E940*(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCTTACCTCTCTCTCCTCTGC	0.552																																					p.E940X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2818T	7						.						62.0	69.0	67.0					7																	47344434		1976	4177	6153	47310959	SO:0001587	stop_gained	64759	exon21			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2818G>T	7.37:g.47344434C>A	ENSP00000381854:p.Glu940*	Somatic		Capture	Illumina HiSeq	Phase_I	47310959	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Nonsense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	43	9.905291	0.99292	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	.	.	.	5.7	5.7	0.88788	.	2.183350	0.01452	N	0.015531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	15.3242	0.74147	0.0:1.0:0.0:0.0	.	.	.	.	X	940;1050;940;700;396;1043	.	ENSP00000312143:E940X	E	-	1	0	TNS3	47310959	0.975000	0.34042	0.251000	0.24312	0.742000	0.42306	2.969000	0.49232	2.675000	0.91044	0.655000	0.94253	GAG		0.552	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
PKD1L1	168507	broad.mit.edu	37	7	47897218	47897218	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:47897218G>A	ENST00000289672.2	-	28	4625	c.4575C>T	c.(4573-4575)agC>agT	p.S1525S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1525	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)	p.S1525S(1)	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						CAGGAGCTTGGCTCCCTGGAT	0.493																																					p.S1525S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4575T	7						.						63.0	62.0	62.0					7																	47897218		2203	4300	6503	47863743	SO:0001819	synonymous_variant	168507	exon28			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.4575C>T	7.37:g.47897218G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47863743	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.493	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47955158	47955158	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:47955158A>G	ENST00000289672.2	-	8	1149	c.1099T>C	c.(1099-1101)Tcc>Ccc	p.S367P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	367					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)	p.S367P(1)	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						TTGTAGGTGGACATAtccaac	0.333																																					p.S367P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1099C	7						.						94.0	90.0	91.0					7																	47955158		2203	4300	6503	47921683	SO:0001583	missense	168507	exon8			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.1099T>C	7.37:g.47955158A>G	ENSP00000289672:p.Ser367Pro	Somatic		Capture	Illumina HiSeq	Phase_I	47921683	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	0.740	-0.776807	0.02929	.	.	ENSG00000158683	ENST00000289672	T	0.23950	1.88	0.391	0.391	0.16282	.	28.248200	0.00447	U	0.000084	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.20538	-1.0272	9	0.32370	T	0.25	.	.	.	.	.	367	Q8TDX9	PK1L1_HUMAN	P	367	ENSP00000289672:S367P	ENSP00000289672:S367P	S	-	1	0	PKD1L1	47921683	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.383000	0.24910	0.378000	0.23410	TCC		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
HUS1	3364	broad.mit.edu	37	7	48007496	48007496	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48007496T>G	ENST00000258774.5	-	7	690	c.667A>C	c.(667-669)Aac>Cac	p.N223H	HUS1_ENST00000432325.1_Missense_Mutation_p.N202H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	223					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N223H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TGTTCCACGTTTCTGTCCTCA	0.423								Direct reversal of damage;Other conserved DNA damage response genes																													p.N223H	Ovarian(103;466 1517 21788 34610 43890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667C	7						.						167.0	148.0	155.0					7																	48007496		2203	4300	6503	47974021	SO:0001583	missense	3364	exon7			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.667A>C	7.37:g.48007496T>G	ENSP00000258774:p.Asn223His	Somatic		Capture	Illumina HiSeq	Phase_I	47974021	NM_004507	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	T	5.617	0.298551	0.10622	.	.	ENSG00000136273	ENST00000258774;ENST00000432325	T;T	0.12147	2.71;2.71	5.34	-1.75	0.08031	.	0.420606	0.28772	N	0.014192	T	0.05410	0.0143	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26503	-1.0101	10	0.42905	T	0.14	-15.3013	5.3036	0.15791	0.0:0.3829:0.3518:0.2653	.	223	O60921	HUS1_HUMAN	H	223;202	ENSP00000258774:N223H;ENSP00000416588:N202H	ENSP00000258774:N223H	N	-	1	0	HUS1	47974021	0.736000	0.28164	0.002000	0.10522	0.197000	0.23852	0.247000	0.18179	-0.136000	0.11475	0.528000	0.53228	AAC		0.423	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507	
SUN3	256979	broad.mit.edu	37	7	48035667	48035667	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48035667A>G	ENST00000297325.4	-	7	813	c.654T>C	c.(652-654)ggT>ggC	p.G218G	SUN3_ENST00000453192.2_Silent_p.G206G|SUN3_ENST00000412142.1_Silent_p.G118G|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Silent_p.G218G	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	218	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.G218G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATTTAGGAAACCTATCCCAT	0.289																																					p.G218G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T654C	7						.						84.0	90.0	88.0					7																	48035667		2203	4290	6493	48002192	SO:0001819	synonymous_variant	256979	exon7			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.654T>C	7.37:g.48035667A>G		Somatic		Capture	Illumina HiSeq	Phase_I	48002192	NM_001030019	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	A	9.226	1.034696	0.19590	.	.	ENSG00000164744	ENST00000453071	.	.	.	5.25	-4.13	0.03904	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	.	2.0703	0.03612	0.1712:0.1692:0.1234:0.5362	.	.	.	.	A	142	.	.	V	-	2	0	SUN3	48002192	0.083000	0.21467	0.963000	0.40424	0.933000	0.57130	-1.050000	0.03510	-0.766000	0.04639	-0.341000	0.08007	GTT		0.289	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
SUN3	256979	broad.mit.edu	37	7	48046872	48046872	+	Missense_Mutation	SNP	C	C	T	rs145833872		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48046872C>T	ENST00000297325.4	-	5	541	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SUN3_ENST00000453192.2_Missense_Mutation_p.E116K|SUN3_ENST00000412142.1_Missense_Mutation_p.E28K|SUN3_ENST00000395572.2_Missense_Mutation_p.E128K	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	128						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.E128K(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTATTTGTTCGATCAAAAAT	0.418																																					p.E128K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G382A	7						.	T	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	120.0	115.0	117.0		382,382	4.5	0.7	7	dbSNP_134	117	0,8600		0,0,4300	no	missense,missense	SUN3	NM_001030019.1,NM_152782.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	128/358,128/358	48046872	1,13005	2203	4300	6503	48013397	SO:0001583	missense	256979	exon5			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.382G>A	7.37:g.48046872C>T	ENSP00000297325:p.Glu128Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48013397	NM_001030019	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718938	0.30503	2.27E-4	0.0	ENSG00000164744	ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	T;T;T;T;T	0.23348	1.91;1.95;1.91;2.52;1.95	5.56	4.49	0.54785	.	0.156786	0.41294	D	0.000903	T	0.10723	0.0262	N	0.24115	0.695	0.23144	N	0.998224	B;B;P	0.48230	0.152;0.374;0.907	B;B;B	0.30316	0.014;0.109;0.114	T	0.24261	-1.0165	10	0.10111	T	0.7	.	10.1888	0.43013	0.0:0.8957:0.0:0.1043	.	116;28;128	E7EWC8;Q8TAQ9-2;Q8TAQ9	.;.;SUN3_HUMAN	K	128;28;128;116;28	ENSP00000297325:E128K;ENSP00000410204:E28K;ENSP00000378939:E128K;ENSP00000387525:E116K;ENSP00000409077:E28K	ENSP00000297325:E128K	E	-	1	0	SUN3	48013397	0.835000	0.29415	0.739000	0.30968	0.314000	0.28054	1.259000	0.32956	2.613000	0.88420	0.655000	0.94253	GAA		0.418	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
ABCA13	154664	broad.mit.edu	37	7	48285122	48285122	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48285122C>T	ENST00000435803.1	+	12	1428	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	468					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.C413C(1)|p.C468C(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCATTTGCCTGGAGACAT	0.358																																					p.A414V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1241T	7						.						141.0	139.0	140.0					7																	48285122		1831	4084	5915	48255668	SO:0001819	synonymous_variant	154664	exon10			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1404C>T	7.37:g.48285122C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48255668	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48311708	48311708	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48311708A>C	ENST00000435803.1	+	17	2469	c.2445A>C	c.(2443-2445)gaA>gaC	p.E815D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	815					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E760D(1)|p.E815D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAAGGAAGGAACCAAAAAATC	0.368																																					p.N761T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2282C	7						.						34.0	35.0	35.0					7																	48311708		1812	4062	5874	48282254	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2445A>C	7.37:g.48311708A>C	ENSP00000411096:p.Glu815Asp	Somatic		Capture	Illumina HiSeq	Phase_I	48282254	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	7.833	0.720335	0.15372	.	.	ENSG00000179869	ENST00000435803	D	0.86097	-2.07	5.81	4.65	0.58169	.	0.410772	0.20450	N	0.092115	T	0.80727	0.4678	M	0.62723	1.935	0.09310	N	0.999999	P	0.43094	0.799	B	0.37650	0.255	T	0.74659	-0.3591	10	0.66056	D	0.02	.	7.1956	0.25851	0.8206:0.0:0.1794:0.0	.	815	Q86UQ4	ABCAD_HUMAN	D	815	ENSP00000411096:E815D	ENSP00000411096:E815D	E	+	3	2	ABCA13	48282254	0.000000	0.05858	0.011000	0.14972	0.060000	0.15804	0.992000	0.29667	1.025000	0.39708	0.477000	0.44152	GAA		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48318817	48318817	+	Nonsense_Mutation	SNP	G	G	T	rs375142489	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48318817G>T	ENST00000435803.1	+	18	8050	c.8026G>T	c.(8026-8028)Gaa>Taa	p.E2676*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2676					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E2621*(1)|p.E2676*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTACGGGAAGAAATTCTGGG	0.368													G|||	5	0.000998403	0.003	0.0	5008	,	,		17261	0.001		0.0	False		,,,				2504	0.0				p.K2621N												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G7863T	7						.	G	stop/GLU	1,3639		0,1,1819	21.0	19.0	19.0		8026	4.0	0.7	7		19	0,8164		0,0,4082	no	stop-gained	ABCA13	NM_152701.3		0,1,5901	TT,TG,GG		0.0,0.0275,0.0085		2676/5059	48318817	1,11803	1820	4082	5902	48289363	SO:0001587	stop_gained	154664	exon16			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8026G>T	7.37:g.48318817G>T	ENSP00000411096:p.Glu2676*	Somatic		Capture	Illumina HiSeq	Phase_I	48289363	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	48	14.362630	0.99792	2.75E-4	0.0	ENSG00000179869	ENST00000435803	.	.	.	4.93	4.03	0.46877	.	0.299368	0.23461	N	0.047922	.	.	.	.	.	.	0.39934	D	0.974325	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.4992	0.44796	0.0:0.0:0.8058:0.1942	.	.	.	.	X	2676	.	ENSP00000411096:E2676X	E	+	1	0	ABCA13	48289363	0.991000	0.36638	0.660000	0.29694	0.433000	0.31745	1.989000	0.40707	1.051000	0.40369	0.655000	0.94253	GAA		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48450174	48450174	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48450174G>A	ENST00000435803.1	+	40	12152	c.12128G>A	c.(12127-12129)cGc>cAc	p.R4043H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4043	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R3988H(1)|p.R4043H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAGTGACCGCGTGGCCGTC	0.622																																					p.A3989T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11965A	7						.						110.0	109.0	109.0					7																	48450174		2080	4217	6297	48420720	SO:0001583	missense	154664	exon38			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12128G>A	7.37:g.48450174G>A	ENSP00000411096:p.Arg4043His	Somatic		Capture	Illumina HiSeq	Phase_I	48420720	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566700	0.13560	.	.	ENSG00000179869	ENST00000435803	D	0.99158	-5.5	5.33	0.322	0.15888	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.632526	0.14061	N	0.344053	D	0.97651	0.9230	M	0.78344	2.41	0.36509	D	0.869479	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.002	D	0.94777	0.7950	10	0.27785	T	0.31	.	10.4874	0.44731	0.4169:0.0:0.5831:0.0	.	1745;4043	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	4043	ENSP00000411096:R4043H	ENSP00000411096:R4043H	R	+	2	0	ABCA13	48420720	0.991000	0.36638	0.000000	0.03702	0.008000	0.06430	2.291000	0.43540	-0.153000	0.11137	-0.150000	0.13652	CGC		0.622	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ZPBP	11055	broad.mit.edu	37	7	50057846	50057846	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:50057846C>A	ENST00000046087.2	-	6	842	c.773G>T	c.(772-774)aGa>aTa	p.R258I	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.R257I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	258					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.R258I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTAAAAAGTCTTTTGTAAGG	0.328																																					p.R258I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773T	7						.						81.0	82.0	82.0					7																	50057846		2203	4298	6501	50028392	SO:0001583	missense	11055	exon6			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.773G>T	7.37:g.50057846C>A	ENSP00000046087:p.Arg258Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50028392	NM_007009	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	9.730	1.162124	0.21538	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.55413	0.52;0.52	4.1	3.22	0.36961	.	0.000000	0.64402	D	0.000003	T	0.65101	0.2659	M	0.70595	2.14	0.21553	N	0.999646	D;D	0.69078	0.997;0.997	D;D	0.68039	0.955;0.955	T	0.54255	-0.8321	9	.	.	.	-26.6876	7.9101	0.29785	0.0:0.8891:0.0:0.1109	.	257;258	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	I	258;257	ENSP00000046087:R258I;ENSP00000402071:R257I	.	R	-	2	0	ZPBP	50028392	0.996000	0.38824	0.058000	0.19502	0.007000	0.05969	1.534000	0.36051	1.307000	0.44944	0.637000	0.83480	AGA		0.328	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
FIGNL1	63979	broad.mit.edu	37	7	50514875	50514875	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:50514875C>A	ENST00000419119.1	-	2	1664	c.111G>T	c.(109-111)caG>caT	p.Q37H	FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q37H|FIGNL1_ENST00000435566.1_Missense_Mutation_p.Q37H|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q37H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q37H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	37					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.Q37H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCGTAATATCTGTGCACGGT	0.433																																					p.Q37H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G111T	7						.						73.0	64.0	67.0					7																	50514875		2203	4300	6503	50482369	SO:0001583	missense	63979	exon4			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.111G>T	7.37:g.50514875C>A	ENSP00000410811:p.Gln37His	Somatic		Capture	Illumina HiSeq	Phase_I	50482369	NM_001042762	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	5.145	0.212341	0.09757	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000435566;ENST00000436590;ENST00000422854;ENST00000440350;ENST00000420829	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.21	2.39	0.29439	.	0.128359	0.52532	D	0.000073	T	0.06554	0.0168	N	0.25380	0.74	0.22675	N	0.998866	B	0.10296	0.003	B	0.06405	0.002	T	0.37478	-0.9704	10	0.25751	T	0.34	-5.3168	6.2273	0.20716	0.1202:0.6235:0.0:0.2563	.	37	Q6PIW4	FIGL1_HUMAN	H	37	ENSP00000349356:Q37H;ENSP00000378924:Q37H;ENSP00000399997:Q37H;ENSP00000410811:Q37H;ENSP00000394070:Q37H;ENSP00000403012:Q37H;ENSP00000388471:Q37H	ENSP00000349356:Q37H	Q	-	3	2	FIGNL1	50482369	0.991000	0.36638	0.450000	0.26969	0.991000	0.79684	0.301000	0.19174	0.287000	0.22375	0.563000	0.77884	CAG		0.433	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
GRB10	2887	broad.mit.edu	37	7	50771519	50771519	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:50771519C>T	ENST00000401949.1	-	5	607	c.138G>A	c.(136-138)caG>caA	p.Q46Q	GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000439599.1_Splice_Site_p.Q40Q|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000357271.5_Splice_Site_p.Q46Q|GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000398812.2_Splice_Site_p.Q46Q|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000403097.1_Splice_Site_p.Q40Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	46					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.Q40Q(1)|p.Q46Q(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATTCCTTACCCTGGTGATTCG	0.483									Russell-Silver syndrome																												p.Q46Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G138A	7						.						115.0	119.0	118.0					7																	50771519		2002	4182	6184	50739013	SO:0001630	splice_region_variant	2887	exon2	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.139+1G>A	7.37:g.50771519C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50739013	NM_001001549	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																				0.483	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1		Silent
EGFR	1956	broad.mit.edu	37	7	55260524	55260524	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:55260524C>A	ENST00000275493.2	+	22	2868	c.2691C>A	c.(2689-2691)gtC>gtA	p.V897V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.V852V|EGFR_ENST00000454757.2_Silent_p.V844V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V897V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGAGTGATGTCTGGAGCTACG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.V897V		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	EGFR,lung,NS,Substitution - Missense,+2 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2691A	7						.						122.0	110.0	114.0					7																	55260524		2203	4300	6503	55228018	SO:0001819	synonymous_variant	1956	exon22	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2691C>A	7.37:g.55260524C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55228018	NM_005228	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CCT6A	908	broad.mit.edu	37	7	56123444	56123444	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:56123444C>A	ENST00000275603.4	+	4	683	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.S124Y|CCT6A_ENST00000335503.3_Missense_Mutation_p.S110Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	155					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.S155Y(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAGAACATCTCTTCGTACT	0.378																																					p.S110Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329A	7						.						94.0	90.0	91.0					7																	56123444		2203	4300	6503	56090938	SO:0001583	missense	908	exon3			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.464C>A	7.37:g.56123444C>A	ENSP00000275603:p.Ser155Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56090938	NM_001009186	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360270	0.82353	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	D;D;D	0.81659	-1.52;-1.52;-1.52	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	H	0.97415	4	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.979;0.98;0.97	D	0.95850	0.8874	10	0.87932	D	0	-7.115	16.9136	0.86146	0.0:1.0:0.0:0.0	.	124;110;155	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	Y	155;110;124;13	ENSP00000275603:S155Y;ENSP00000352019:S110Y;ENSP00000438488:S124Y	ENSP00000275603:S155Y	S	+	2	0	CCT6A	56090938	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.122000	0.77169	2.202000	0.70862	0.485000	0.47835	TCT		0.378	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
ZNF479	90827	broad.mit.edu	37	7	57187988	57187988	+	Silent	SNP	C	C	T	rs576521039		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:57187988C>T	ENST00000331162.4	-	5	1404	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E378E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTAGGGTTTCTCTCCAGTAT	0.438																																					p.E378E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1134A	7						.						37.0	39.0	38.0					7																	57187988		2055	4215	6270	57191930	SO:0001819	synonymous_variant	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1134G>A	7.37:g.57187988C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57191930	NM_033273		Silent	SNP	ENST00000331162.4	37	CCDS43590.1																																																																																				0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF479	90827	broad.mit.edu	37	7	57188151	57188151	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:57188151G>T	ENST00000331162.4	-	5	1241	c.971C>A	c.(970-972)cCc>cAc	p.P324H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P324H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACACCTGCAGGGTTTCTCTCC	0.448																																					p.P324H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971A	7						.						10.0	9.0	9.0					7																	57188151		1849	3989	5838	57192093	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.971C>A	7.37:g.57188151G>T	ENSP00000333776:p.Pro324His	Somatic		Capture	Illumina HiSeq	Phase_I	57192093	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.209178	0.39003	.	.	ENSG00000185177	ENST00000331162	T	0.17528	2.27	0.994	0.994	0.19832	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45696	0.1355	M	0.92412	3.305	0.32329	N	0.561289	D	0.89917	1.0	D	0.85130	0.997	T	0.55673	-0.8104	9	0.87932	D	0	.	7.4398	0.27176	0.0:0.0:1.0:0.0	.	324	Q96JC4	ZN479_HUMAN	H	324	ENSP00000333776:P324H	ENSP00000333776:P324H	P	-	2	0	ZNF479	57192093	0.793000	0.28825	0.007000	0.13788	0.006000	0.05464	1.644000	0.37228	0.439000	0.26476	0.442000	0.29010	CCC		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF479	90827	broad.mit.edu	37	7	57188256	57188256	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:57188256C>A	ENST00000331162.4	-	5	1136	c.866G>T	c.(865-867)aGa>aTa	p.R289I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R289I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTT	0.453																																					p.R289I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G866T	7						.						30.0	30.0	30.0					7																	57188256		2051	4208	6259	57192198	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.866G>T	7.37:g.57188256C>A	ENSP00000333776:p.Arg289Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57192198	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	8.875	0.950123	0.18431	.	.	ENSG00000185177	ENST00000331162	T	0.02446	4.29	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	M	0.70275	2.135	0.41214	D	0.986469	D	0.69078	0.997	D	0.74348	0.983	T	0.29882	-0.9997	9	0.24483	T	0.36	.	7.4806	0.27402	0.0:1.0:0.0:0.0	.	289	Q96JC4	ZN479_HUMAN	I	289	ENSP00000333776:R289I	ENSP00000333776:R289I	R	-	2	0	ZNF479	57192198	0.000000	0.05858	0.031000	0.17742	0.028000	0.11728	0.957000	0.29215	0.453000	0.26858	0.456000	0.33151	AGA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF680	340252	broad.mit.edu	37	7	63982026	63982026	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:63982026T>G	ENST00000309683.6	-	4	1257	c.1106A>C	c.(1105-1107)aAg>aCg	p.K369T	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K369T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATGAATTTTCTTATGTCTAGT	0.348																																					p.K369T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106C	7						.						26.0	29.0	28.0					7																	63982026		2195	4283	6478	63619461	SO:0001583	missense	340252	exon4			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1106A>C	7.37:g.63982026T>G	ENSP00000309330:p.Lys369Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63619461	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	12.23	1.876688	0.33162	.	.	ENSG00000173041	ENST00000309683	T	0.51817	0.69	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45196	0.1330	N	0.20530	0.585	0.53005	D	0.999962	D	0.71674	0.998	D	0.67725	0.953	T	0.44251	-0.9340	9	0.87932	D	0	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	369	Q8NEM1	ZN680_HUMAN	T	369	ENSP00000309330:K369T	ENSP00000309330:K369T	K	-	2	0	ZNF680	63619461	0.001000	0.12720	0.002000	0.10522	0.096000	0.18686	0.856000	0.27818	0.588000	0.29660	0.402000	0.26972	AAG		0.348	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
ZNF680	340252	broad.mit.edu	37	7	63982091	63982091	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:63982091C>A	ENST00000309683.6	-	4	1192	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E347D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGTAGGGTTTCTCTCCAGTAT	0.348																																					p.E347D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1041T	7						.						30.0	33.0	32.0					7																	63982091		2175	4286	6461	63619526	SO:0001583	missense	340252	exon4			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1041G>T	7.37:g.63982091C>A	ENSP00000309330:p.Glu347Asp	Somatic		Capture	Illumina HiSeq	Phase_I	63619526	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	c	14.28	2.489416	0.44249	.	.	ENSG00000173041	ENST00000309683	T	0.26810	1.71	1.36	0.353	0.16058	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33990	0.0882	L	0.43757	1.38	0.80722	D	1	D	0.58268	0.982	D	0.73708	0.981	T	0.16335	-1.0406	9	0.62326	D	0.03	.	3.9131	0.09211	0.0:0.7354:0.0:0.2646	.	347	Q8NEM1	ZN680_HUMAN	D	347	ENSP00000309330:E347D	ENSP00000309330:E347D	E	-	3	2	ZNF680	63619526	0.998000	0.40836	0.905000	0.35620	0.982000	0.71751	0.366000	0.20365	-0.114000	0.11936	0.491000	0.48974	GAG		0.348	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
ZNF107	51427	broad.mit.edu	37	7	64167053	64167053	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64167053G>T	ENST00000395391.1	+	4	1746	c.371G>T	c.(370-372)aGa>aTa	p.R124I	ZNF107_ENST00000423627.1_Missense_Mutation_p.R124I|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R124I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328																																					p.R124I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371T	7						.						27.0	28.0	27.0					7																	64167053		2201	4298	6499	63804488	SO:0001583	missense	51427	exon7			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.371G>T	7.37:g.64167053G>T	ENSP00000378789:p.Arg124Ile	Somatic		Capture	Illumina HiSeq	Phase_I	63804488	NM_016220		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.161539	0.57368	.	.	ENSG00000196247	ENST00000541526;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.24908	1.83;1.83;1.83	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	L	0.52905	1.665	0.39339	D	0.965559	B	0.28055	0.199	B	0.19666	0.026	T	0.06789	-1.0807	8	.	.	.	.	4.7421	0.13017	0.0:0.4037:0.5963:0.0	.	124	Q9UII5	ZN107_HUMAN	I	124	ENSP00000343443:R124I;ENSP00000400037:R124I;ENSP00000378789:R124I	.	R	+	2	0	ZNF107	63804488	0.000000	0.05858	0.838000	0.33150	0.875000	0.50365	-0.224000	0.09164	0.300000	0.22699	0.305000	0.20034	AGA		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF138	7697	broad.mit.edu	37	7	64292353	64292353	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64292353C>T	ENST00000359735.3	+	4	909	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	ZNF138_ENST00000397136.2_Missense_Mutation_p.R188C|ZNF138_ENST00000437743.1_Missense_Mutation_p.R213C|ZNF138_ENST00000440155.2_Missense_Mutation_p.R219C|ZNF138_ENST00000307355.7_Missense_Mutation_p.R245C|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	188					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)	p.R188C(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TAAGATAATTCGTACTGGAGA	0.358																																					p.R219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	7						.						42.0	46.0	45.0					7																	64292353		2203	4299	6502	63929788	SO:0001583	missense	7697	exon3			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.562C>T	7.37:g.64292353C>T	ENSP00000352770:p.Arg188Cys	Somatic		Capture	Illumina HiSeq	Phase_I	63929788	NM_006524	B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	ENST00000359735.3	37		.	.	.	.	.	.	.	.	.	.	.	14.49	2.551599	0.45487	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	N	0.11560	0.145	0.32618	N	0.523694	B;P;B	0.49090	0.001;0.919;0.003	B;P;B	0.53062	0.005;0.717;0.005	T	0.27157	-1.0082	9	0.72032	D	0.01	.	6.9971	0.24789	0.0:1.0:0.0:0.0	.	219;213;188	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	C	245;188;219;213;188	ENSP00000303533:R245C;ENSP00000352770:R188C;ENSP00000407262:R219C;ENSP00000399528:R213C;ENSP00000380325:R188C	ENSP00000303533:R245C	R	+	1	0	ZNF138	63929788	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	5.366000	0.66122	0.192000	0.20272	0.195000	0.17529	CGT		0.358	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524	
ZNF117	51351	broad.mit.edu	37	7	64438639	64438639	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64438639C>A	ENST00000282869.6	-	4	2594	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R437I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTCC	0.353																																					p.R437I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1310T	7						.						63.0	67.0	66.0					7																	64438639		2116	4256	6372	64076074	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1310G>T	7.37:g.64438639C>A	ENSP00000282869:p.Arg437Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64076074	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	1.322	-0.599306	0.03744	.	.	ENSG00000152926	ENST00000282869	T	0.24908	1.83	1.1	-2.21	0.06973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	M	0.80422	2.495	0.38357	D	0.944494	B	0.02656	0.0	B	0.04013	0.001	T	0.34004	-0.9846	9	0.13108	T	0.6	.	8.4834	0.33057	0.2353:0.7647:0.0:0.0	.	437	Q03924	ZN117_HUMAN	I	437	ENSP00000282869:R437I	ENSP00000282869:R437I	R	-	2	0	ZNF117	64076074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.109000	0.00293	-1.631000	0.01543	-0.852000	0.03032	AGA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
ZNF117	51351	broad.mit.edu	37	7	64439563	64439563	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64439563C>A	ENST00000282869.6	-	4	1670	c.386G>T	c.(385-387)aGa>aTa	p.R129I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	129					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R129I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTTTGGATTCTTTTATGTTG	0.323																																					p.R129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G386T	7						.						67.0	66.0	67.0					7																	64439563		2101	4248	6349	64076998	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.386G>T	7.37:g.64439563C>A	ENSP00000282869:p.Arg129Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64076998	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	4.415	0.076764	0.08485	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.02446	4.29	1.3	0.315	0.15852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	L	0.33485	1.01	0.09310	N	0.999999	B	0.16802	0.019	B	0.24974	0.057	T	0.45086	-0.9285	9	0.40728	T	0.16	.	5.6063	0.17381	0.0:0.7901:0.0:0.2099	.	129	Q03924	ZN117_HUMAN	I	129	ENSP00000282869:R129I	ENSP00000282869:R129I	R	-	2	0	ZNF117	64076998	.	.	0.001000	0.08648	0.006000	0.05464	.	.	-0.146000	0.11274	-0.657000	0.03884	AGA		0.323	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
ERV3-1	2086	broad.mit.edu	37	7	64451667	64451667	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64451667C>T	ENST00000394323.2	-	2	2238	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	580						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)		p.E580K(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						acctttccttcgtcatcaagt	0.433																																					p.E580K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1738A	7						.						70.0	61.0	63.0					7																	64451667		1871	4110	5981	64089102	SO:0001583	missense	51351	exon2			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.1738G>A	7.37:g.64451667C>T	ENSP00000391594:p.Glu580Lys	Somatic		Capture	Illumina HiSeq	Phase_I	64089102	NM_001007253		5'Flank	SNP	ENST00000394323.2	37	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	1.625	-0.520419	0.04171	.	.	ENSG00000213462	ENST00000394323	T	0.28895	1.59	0.109	0.109	0.14578	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.21147	0.052	B	0.09377	0.004	T	0.29941	-0.9995	8	0.08381	T	0.77	.	.	.	.	.	580	Q14264	ENR1_HUMAN	K	580	ENSP00000391594:E580K	ENSP00000391594:E580K	E	-	1	0	ERV3-1	64089102	0.026000	0.19158	0.021000	0.16686	0.021000	0.10359	-1.011000	0.03652	-1.409000	0.02038	-1.461000	0.01025	GAA		0.433	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253	
ERV3-1	2086	broad.mit.edu	37	7	64451976	64451976	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:64451976C>A	ENST00000394323.2	-	2	1929	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	477						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)		p.D477Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tccttccaatctcctatagtt	0.453																																					p.D477Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1429T	7						.						63.0	52.0	56.0					7																	64451976		1691	3654	5345	64089411	SO:0001583	missense	51351	exon2			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.1429G>T	7.37:g.64451976C>A	ENSP00000391594:p.Asp477Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64089411	NM_001007253		5'Flank	SNP	ENST00000394323.2	37	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	7.605	0.673611	0.14776	.	.	ENSG00000213462	ENST00000394323	T	0.13307	2.6	0.109	0.109	0.14578	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.33940	0.433	B	0.25405	0.06	T	0.38222	-0.9671	8	0.31617	T	0.26	.	.	.	.	.	477	Q14264	ENR1_HUMAN	Y	477	ENSP00000391594:D477Y	ENSP00000391594:D477Y	D	-	1	0	ERV3-1	64089411	0.087000	0.21565	0.044000	0.18714	0.044000	0.14063	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GAT		0.453	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253	
AUTS2	26053	broad.mit.edu	37	7	70228049	70228049	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:70228049G>A	ENST00000342771.4	+	7	1257	c.936G>A	c.(934-936)gaG>gaA	p.E312E	AUTS2_ENST00000406775.2_Silent_p.E312E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	312								p.E312E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGCAGACGGAGCCCCAACTCC	0.617																																					p.E312E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G936A	7						.						55.0	60.0	58.0					7																	70228049		2203	4300	6503	69865985	SO:0001819	synonymous_variant	26053	exon7			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.936G>A	7.37:g.70228049G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69865985	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	3.442	-0.113917	0.06881	.	.	ENSG00000158321	ENST00000416482	.	.	.	5.58	1.68	0.24146	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39272	-0.9622	4	.	.	.	-11.0638	5.7825	0.18314	0.3522:0.1263:0.5215:0.0	.	.	.	.	T	93	.	.	A	+	1	0	AUTS2	69865985	0.984000	0.35163	0.536000	0.28039	0.333000	0.28666	0.410000	0.21098	0.029000	0.15352	0.557000	0.71058	GCC		0.617	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
WBSCR17	64409	broad.mit.edu	37	7	71142199	71142199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:71142199C>T	ENST00000333538.5	+	9	2042	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	470	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R470C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTGCAGCTTCGCAACAACAA	0.532																																					p.R470C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408T	7						.						214.0	215.0	215.0					7																	71142199		2203	4300	6503	70780135	SO:0001583	missense	64409	exon9			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1408C>T	7.37:g.71142199C>T	ENSP00000329654:p.Arg470Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70780135	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890144	0.72524	.	.	ENSG00000185274	ENST00000333538	T	0.31769	1.48	5.11	5.11	0.69529	Ricin B-related lectin (1);Ricin B lectin (3);	0.186009	0.48767	D	0.000178	T	0.60495	0.2273	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66532	-0.5900	10	0.87932	D	0	.	15.8455	0.78887	0.0:1.0:0.0:0.0	.	470	Q6IS24	GLTL3_HUMAN	C	470	ENSP00000329654:R470C	ENSP00000329654:R470C	R	+	1	0	WBSCR17	70780135	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.254000	0.51477	2.641000	0.89580	0.650000	0.86243	CGC		0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:71275406C>T	ENST00000329008.5	-	5	745	c.447G>A	c.(445-447)acG>acA	p.T149T	CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000395275.2_Silent_p.T191T|CALN1_ENST00000395276.2_Silent_p.T149T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463																																					p.T149T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	7						.						200.0	162.0	175.0					7																	71275406		2203	4300	6503	70913342	SO:0001819	synonymous_variant	83698	exon5			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.447G>A	7.37:g.71275406C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70913342	NM_001017440	J3KQA7	Silent	SNP	ENST00000329008.5	37	CCDS5541.1																																																																																				0.463	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
CALN1	83698	broad.mit.edu	37	7	71488645	71488645	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:71488645C>A	ENST00000329008.5	-	4	670	c.372G>T	c.(370-372)tgG>tgT	p.W124C	CALN1_ENST00000412588.1_Missense_Mutation_p.W166C|CALN1_ENST00000431984.1_Missense_Mutation_p.W124C|CALN1_ENST00000405452.2_Missense_Mutation_p.W124C|CALN1_ENST00000395275.2_Missense_Mutation_p.W166C|CALN1_ENST00000395276.2_Missense_Mutation_p.W124C	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TACTCACCTGCCAGAATATGC	0.398																																					p.W124C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G372T	7						.						96.0	94.0	95.0					7																	71488645		2203	4300	6503	71126581	SO:0001583	missense	83698	exon4			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.372G>T	7.37:g.71488645C>A	ENSP00000332498:p.Trp124Cys	Somatic		Capture	Illumina HiSeq	Phase_I	71126581	NM_001017440	J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391192	0.82902	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.79352	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-1.26	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.84031	0.0359	10	0.72032	D	0.01	-13.0044	18.0718	0.89410	0.0:1.0:0.0:0.0	.	124;124	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	C	124;166;124;124;166;124;124	ENSP00000332498:W124C;ENSP00000378690:W166C;ENSP00000378691:W124C;ENSP00000410704:W124C;ENSP00000391882:W166C;ENSP00000384354:W124C;ENSP00000411806:W124C	ENSP00000332498:W124C	W	-	3	0	CALN1	71126581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.105000	0.77031	2.941000	0.99782	0.655000	0.94253	TGG		0.398	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
FKBP6	8468	broad.mit.edu	37	7	72744176	72744176	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:72744176C>T	ENST00000252037.4	+	4	358	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	FKBP6_ENST00000413573.2_Silent_p.L67L|TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Silent_p.L92L|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	97	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.L97L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGCATGGAGCTGGGCCTTCT	0.532																																					p.L92L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C274T	7						.						112.0	96.0	101.0					7																	72744176		2203	4300	6503	72382112	SO:0001819	synonymous_variant	8468	exon4			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.289C>T	7.37:g.72744176C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72382112	NM_001135211	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	CCDS43595.1																																																																																				0.532	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602	
DNAJC30	84277	broad.mit.edu	37	7	73097172	73097172	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:73097172C>A	ENST00000395176.2	-	1	611	c.582G>T	c.(580-582)gaG>gaT	p.E194D	WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	194						mitochondrion (GO:0005739)		p.E194D(1)		kidney(1)|large_intestine(2)|lung(1)	4						TGGACCGATACTCCTGCCGTT	0.552																																					p.E194D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G582T	7						.						40.0	44.0	42.0					7																	73097172		2203	4300	6503	72735108	SO:0001583	missense	84277	exon1			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.582G>T	7.37:g.73097172C>A	ENSP00000378605:p.Glu194Asp	Somatic		Capture	Illumina HiSeq	Phase_I	72735108	NM_032317	Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074863	0.55646	.	.	ENSG00000176410	ENST00000395176	T	0.58940	0.3	5.08	1.23	0.21249	.	0.074901	0.52532	D	0.000070	T	0.51278	0.1665	M	0.75447	2.3	0.22354	N	0.999176	B	0.32918	0.39	B	0.27380	0.079	T	0.50651	-0.8803	10	0.72032	D	0.01	.	8.8253	0.35052	0.0:0.6696:0.0:0.3304	.	194	Q96LL9	DJC30_HUMAN	D	194	ENSP00000378605:E194D	ENSP00000378605:E194D	E	-	3	2	DNAJC30	72735108	0.983000	0.35010	0.094000	0.20943	0.002000	0.02628	1.365000	0.34182	0.333000	0.23563	-0.263000	0.10527	GAG		0.552	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2		
ELN	2006	broad.mit.edu	37	7	73462885	73462885	+	Splice_Site	SNP	C	C	T	rs552274876		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:73462885C>T	ENST00000252034.7	+	15	1197	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ELN_ENST00000380553.4_Splice_Site_p.F149F|ELN_ENST00000380575.4_Splice_Site_p.F256F|ELN_ENST00000320399.6_Splice_Site_p.F266F|ELN_ENST00000380576.5_Splice_Site_p.F266F|ELN_ENST00000380562.4_Splice_Site_p.F266F|ELN_ENST00000414324.1_Splice_Site_p.F261F|ELN_ENST00000429192.1_Splice_Site_p.F271F|ELN_ENST00000320492.7_Splice_Site_p.F230F|ELN_ENST00000458204.1_Splice_Site_p.F256F|ELN_ENST00000445912.1_Splice_Site_p.F266F|ELN_ENST00000358929.4_Splice_Site_p.F266F|ELN_ENST00000357036.5_Splice_Site_p.F271F|ELN_ENST00000380584.4_Splice_Site_p.F252F	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	266	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.F266F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				cagcaAAGTTCGGTGAGTGCC	0.607			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						c|||	1	0.000199681	0.0	0.0014	5008	,	,		17310	0.0		0.0	False		,,,				2504	0.0				p.F271F			Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	7						.						56.0	61.0	59.0					7																	73462885		2203	4300	6503	73100821	SO:0001630	splice_region_variant	2006	exon15				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.799+1C>T	7.37:g.73462885C>T		Somatic		Capture	Illumina HiSeq	Phase_I	73100821	NM_001081753	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	Silent
HIP1	3092	broad.mit.edu	37	7	75174454	75174454	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:75174454C>A	ENST00000336926.6	-	26	2618	c.2592G>T	c.(2590-2592)aaG>aaT	p.K864N	HIP1_ENST00000434438.2_Missense_Mutation_p.K813N	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	864	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.K866N(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATCGAGAGTTCTTGGCATAAA	0.448			T	PDGFRB	CMML																																p.K864N			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2592T	7						.						130.0	133.0	132.0					7																	75174454		2203	4300	6503	75012390	SO:0001583	missense	3092	exon26			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2592G>T	7.37:g.75174454C>A	ENSP00000336747:p.Lys864Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75012390	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.313456	0.81358	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.52057	0.68;0.68	5.6	5.6	0.85130	I/LWEQ (4);	0.086903	0.85682	D	0.000000	T	0.77280	0.4107	M	0.90870	3.155	0.52501	D	0.999952	P;P	0.38922	0.651;0.588	P;B	0.62740	0.906;0.43	T	0.79813	-0.1645	10	0.72032	D	0.01	-42.2065	18.1669	0.89731	0.0:1.0:0.0:0.0	.	813;864	E7ES17;O00291	.;HIP1_HUMAN	N	864;813	ENSP00000336747:K864N;ENSP00000410300:K813N	ENSP00000336747:K864N	K	-	3	2	HIP1	75012390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.644000	0.89710	0.655000	0.94253	AAG		0.448	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
ZP3	7784	broad.mit.edu	37	7	76054540	76054540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:76054540G>T	ENST00000394857.3	+	1	317	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZP3_ENST00000336517.4_Nonsense_Mutation_p.E36*	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	87	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)	p.E36*(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATGGACACAGAAGATGTGGT	0.587																																					p.E36X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G106T	7						.						73.0	56.0	62.0					7																	76054540		2203	4300	6503	75892476	SO:0001587	stop_gained	7784	exon2			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.259G>T	7.37:g.76054540G>T	ENSP00000378326:p.Glu87*	Somatic		Capture	Illumina HiSeq	Phase_I	75892476	NM_007155	Q06633|Q29RW0	Nonsense_Mutation	SNP	ENST00000394857.3	37	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228514	0.79576	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	.	.	.	5.06	4.19	0.49359	.	1.145010	0.06757	N	0.781033	.	.	.	.	.	.	0.29348	N	0.865564	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-2.2183	11.2933	0.49263	0.0886:0.0:0.9114:0.0	.	.	.	.	X	36;87;87	.	ENSP00000337310:E36X	E	+	1	0	ZP3	75892476	0.143000	0.22626	0.008000	0.14137	0.059000	0.15707	2.443000	0.44881	1.377000	0.46286	-0.373000	0.07131	GAA		0.587	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1		
CCDC146	57639	broad.mit.edu	37	7	76885748	76885748	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:76885748T>G	ENST00000285871.4	+	6	733	c.606T>G	c.(604-606)gaT>gaG	p.D202E	CCDC146_ENST00000431197.1_De_novo_Start_OutOfFrame|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	202								p.D202E(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TACGAGAAGATTTGGCATCTA	0.328																																					p.D202E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T606G	7						.						61.0	62.0	62.0					7																	76885748		2203	4300	6503	76723684	SO:0001583	missense	57639	exon6			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.606T>G	7.37:g.76885748T>G	ENSP00000285871:p.Asp202Glu	Somatic		Capture	Illumina HiSeq	Phase_I	76723684	NM_020879	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566681	0.45694	.	.	ENSG00000135205	ENST00000285871	D	0.84370	-1.84	5.95	2.28	0.28536	.	0.105878	0.64402	D	0.000005	T	0.79203	0.4406	M	0.63428	1.95	0.80722	D	1	P	0.52692	0.955	P	0.45119	0.47	T	0.77474	-0.2574	10	0.02654	T	1	-30.6741	8.1174	0.30950	0.0:0.304:0.0:0.696	.	202	Q8IYE0	CC146_HUMAN	E	202	ENSP00000285871:D202E	ENSP00000285871:D202E	D	+	3	2	AC007000.1	76723684	0.240000	0.23847	0.913000	0.36048	0.987000	0.75469	-0.032000	0.12266	0.474000	0.27392	0.460000	0.39030	GAT		0.328	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
GSAP	54103	broad.mit.edu	37	7	76991952	76991952	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:76991952C>T	ENST00000257626.7	-	13	975	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	299					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.P299P(1)									AGGCACACTTCGGGCTGTAAC	0.313																																					p.P299P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G897A	7						.						96.0	98.0	97.0					7																	76991952		2203	4300	6503	76829888	SO:0001819	synonymous_variant	54103	exon13				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.897G>A	7.37:g.76991952C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76829888	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																				0.313	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	
PTPN12	5782	broad.mit.edu	37	7	77212926	77212926	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:77212926G>T	ENST00000248594.6	+	4	612	c.340G>T	c.(340-342)Gta>Tta	p.V114L	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	114	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.V114L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGCAAATACAGTAATAGATTT	0.303																																					p.V114L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340T	7						.						110.0	112.0	111.0					7																	77212926		2203	4300	6503	77050862	SO:0001583	missense	5782	exon4				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.340G>T	7.37:g.77212926G>T	ENSP00000248594:p.Val114Leu	Somatic		Capture	Illumina HiSeq	Phase_I	77050862	NM_002835	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.226266|2.226266	0.39300|0.39300	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000522115|ENST00000248594	.|D	.|0.83673	.|-1.75	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84951|0.84951	0.5586|0.5586	L|L	0.45285|0.45285	1.41|1.41	0.80722|0.80722	D|D	1|1	.|P	.|0.48162	.|0.906	.|P	.|0.56563	.|0.801	T|T	0.79317|0.79317	-0.1853|-0.1853	5|10	.|0.08837	.|T	.|0.75	.|.	19.3097|19.3097	0.94182|0.94182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114	.|Q05209	.|PTN12_HUMAN	H|L	76|114	.|ENSP00000248594:V114L	.|ENSP00000248594:V114L	Q|V	+|+	3|1	2|0	PTPN12|PTPN12	77050862|77050862	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	6.116000|6.116000	0.71571|0.71571	2.650000|2.650000	0.89964|0.89964	0.591000|0.591000	0.81541|0.81541	CAG|GTA		0.303	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
GNAT3	346562	broad.mit.edu	37	7	80088004	80088004	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:80088004C>A	ENST00000398291.3	-	8	1141	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	350					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.D350Y(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						AGCCCACAGTCTTTTAGATTC	0.343																																					p.D350Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1048T	7						.						65.0	65.0	65.0					7																	80088004		1833	4077	5910	79925940	SO:0001583	missense	346562	exon8				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.1048G>T	7.37:g.80088004C>A	ENSP00000381339:p.Asp350Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	79925940	NM_001102386	A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225204	0.79576	.	.	ENSG00000214415	ENST00000398291	D	0.83506	-1.73	5.57	5.57	0.84162	.	0.113071	0.56097	U	0.000027	D	0.93294	0.7863	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93799	0.7099	9	.	.	.	.	19.9117	0.97026	0.0:1.0:0.0:0.0	.	350	A8MTJ3	GNAT3_HUMAN	Y	350	ENSP00000381339:D350Y	.	D	-	1	0	GNAT3	79925940	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.774000	0.95407	0.650000	0.86243	GAC		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
HGF	3082	broad.mit.edu	37	7	81335667	81335667	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:81335667G>A	ENST00000222390.5	-	15	1919	c.1693C>T	c.(1693-1695)Ctc>Ttc	p.L565F	HGF_ENST00000457544.2_Missense_Mutation_p.L560F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	565	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.L565F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAAACATTGAGAACCTGTTTG	0.378																																					p.L565F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1693T	7						.						139.0	139.0	139.0					7																	81335667		2203	4300	6503	81173603	SO:0001583	missense	3082	exon15				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1693C>T	7.37:g.81335667G>A	ENSP00000222390:p.Leu565Phe	Somatic		Capture	Illumina HiSeq	Phase_I	81173603	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522743	0.64747	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88818	-2.43;-2.43	4.67	2.79	0.32731	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.582542	0.17198	N	0.183258	D	0.83358	0.5237	N	0.12182	0.205	0.80722	D	1	D;D	0.56521	0.97;0.976	P;P	0.60949	0.811;0.881	T	0.78048	-0.2356	10	0.02654	T	1	.	9.7568	0.40508	0.1731:0.0:0.8269:0.0	.	560;565	P14210-3;P14210	.;HGF_HUMAN	F	565;560	ENSP00000222390:L565F;ENSP00000391238:L560F	ENSP00000222390:L565F	L	-	1	0	HGF	81173603	0.932000	0.31603	0.611000	0.29010	0.918000	0.54935	1.610000	0.36869	1.039000	0.40074	0.484000	0.47621	CTC		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HGF	3082	broad.mit.edu	37	7	81339547	81339547	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:81339547G>T	ENST00000222390.5	-	13	1683	c.1457C>A	c.(1456-1458)tCt>tAt	p.S486Y	HGF_ENST00000457544.2_Missense_Mutation_p.S481Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	486					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.S486Y(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTTGGCACAAGATATTACGGG	0.313																																					p.S486Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1457A	7						.						129.0	115.0	119.0					7																	81339547		2203	4300	6503	81177483	SO:0001583	missense	3082	exon13				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1457C>A	7.37:g.81339547G>T	ENSP00000222390:p.Ser486Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	81177483	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778819	0.70107	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88741	-2.42;-2.39	5.2	5.2	0.72013	.	0.276578	0.41001	D	0.000977	D	0.90380	0.6989	L	0.46670	1.46	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	D	0.91143	0.4947	10	0.62326	D	0.03	.	17.2693	0.87096	0.0:0.0:1.0:0.0	.	481;486	P14210-3;P14210	.;HGF_HUMAN	Y	486;481	ENSP00000222390:S486Y;ENSP00000391238:S481Y	ENSP00000222390:S486Y	S	-	2	0	HGF	81177483	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.454000	0.60068	2.572000	0.86782	0.557000	0.71058	TCT		0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HGF	3082	broad.mit.edu	37	7	81346553	81346553	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:81346553G>T	ENST00000222390.5	-	11	1626	c.1400C>A	c.(1399-1401)tCt>tAt	p.S467Y	HGF_ENST00000457544.2_Missense_Mutation_p.S462Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	467	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.S467Y(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTACAACGAGAAATAGGGCA	0.378																																					p.S467Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1400A	7						.						172.0	141.0	152.0					7																	81346553		2203	4300	6503	81184489	SO:0001583	missense	3082	exon11				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1400C>A	7.37:g.81346553G>T	ENSP00000222390:p.Ser467Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	81184489	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960355	0.53400	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.63417	-0.04;-0.04	6.02	5.14	0.70334	Kringle (4);Kringle-like fold (1);	0.218049	0.48767	D	0.000168	T	0.72170	0.3427	M	0.83483	2.645	0.80722	D	1	B;B	0.28933	0.191;0.228	B;B	0.39531	0.2;0.302	T	0.74506	-0.3643	10	0.72032	D	0.01	.	15.4479	0.75248	0.0664:0.0:0.9336:0.0	.	462;467	P14210-3;P14210	.;HGF_HUMAN	Y	467;462	ENSP00000222390:S467Y;ENSP00000391238:S462Y	ENSP00000222390:S467Y	S	-	2	0	HGF	81184489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.353000	0.59411	1.548000	0.49413	0.650000	0.86243	TCT		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HGF	3082	broad.mit.edu	37	7	81386590	81386590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:81386590C>A	ENST00000222390.5	-	4	623	c.397G>T	c.(397-399)Gga>Tga	p.G133*	HGF_ENST00000453018.1_Nonsense_Mutation_p.G30*|HGF_ENST00000423064.2_Nonsense_Mutation_p.G133*|HGF_ENST00000354224.6_Nonsense_Mutation_p.G133*|HGF_ENST00000453411.1_Nonsense_Mutation_p.G133*|HGF_ENST00000444829.2_Nonsense_Mutation_p.G133*|HGF_ENST00000457544.2_Nonsense_Mutation_p.G133*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	133	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.G133*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAGCTGCGTCCTTTACCAATG	0.368																																					p.G133X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G397T	7						.						168.0	150.0	156.0					7																	81386590		2203	4300	6503	81224526	SO:0001587	stop_gained	3082	exon4				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.397G>T	7.37:g.81386590C>A	ENSP00000222390:p.Gly133*	Somatic		Capture	Illumina HiSeq	Phase_I	81224526	NM_001010934	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	37	6.240071	0.97403	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	.	.	.	4.89	4.89	0.63831	.	0.111469	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0439	0.89326	0.0:1.0:0.0:0.0	.	.	.	.	X	133;133;133;133;133;133;133;30;133	.	ENSP00000222390:G133X	G	-	1	0	HGF	81224526	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.509000	0.73725	2.262000	0.75019	0.655000	0.94253	GGA		0.368	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
CACNA2D1	781	broad.mit.edu	37	7	81591263	81591263	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:81591263G>A	ENST00000356253.5	-	36	3204	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	CACNA2D1_ENST00000535308.1_Silent_p.F183F|CACNA2D1_ENST00000356860.3_Silent_p.F971F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	983					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F971F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTCGTTATCGAAGAAATACT	0.423																																					p.F971F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2913T	7						.						129.0	119.0	122.0					7																	81591263		2203	4300	6503	81429199	SO:0001819	synonymous_variant	781	exon36			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2949C>T	7.37:g.81591263G>A		Somatic		Capture	Illumina HiSeq	Phase_I	81429199	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																					0.423	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	broad.mit.edu	37	7	82579563	82579563	+	Silent	SNP	C	C	A	rs566457960		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:82579563C>A	ENST00000333891.9	-	6	10678	c.10341G>T	c.(10339-10341)acG>acT	p.T3447T	PCLO_ENST00000423517.2_Silent_p.T3447T|PCLO_ENST00000437081.1_Silent_p.T167T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T3447T(4)|p.T3378T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCGTCATCCGTTTGTACAC	0.438																																					p.T3447T												.	.	6	Substitution - coding silent(6)	large_intestine(3)|lung(3)	c.G10341T	7						.						127.0	117.0	120.0					7																	82579563		1950	4154	6104	82417499	SO:0001819	synonymous_variant	27445	exon6			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10341G>T	7.37:g.82579563C>A		Somatic		Capture	Illumina HiSeq	Phase_I	82417499	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82582326	82582326	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:82582326A>C	ENST00000333891.9	-	5	8280	c.7943T>G	c.(7942-7944)tTt>tGt	p.F2648C	PCLO_ENST00000423517.2_Missense_Mutation_p.F2648C|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.F2648C(2)|p.F2579C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTAGCAGAAAATGTCTGTAA	0.438																																					p.F2648C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T7943G	7						.						80.0	79.0	79.0					7																	82582326		1870	4113	5983	82420262	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7943T>G	7.37:g.82582326A>C	ENSP00000334319:p.Phe2648Cys	Somatic		Capture	Illumina HiSeq	Phase_I	82420262	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.595030	0.00857	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.14	3.97	0.46021	.	.	.	.	.	T	0.16471	0.0396	N	0.22421	0.69	0.09310	N	1	P;P	0.48016	0.904;0.904	P;P	0.50192	0.513;0.634	T	0.08597	-1.0714	9	0.87932	D	0	.	6.1069	0.20079	0.7786:0.0:0.0792:0.1422	.	2648;2648	Q9Y6V0-5;Q9Y6V0-6	.;.	C	2579;2648;2648	ENSP00000334319:F2648C;ENSP00000388393:F2648C	ENSP00000334319:F2648C	F	-	2	0	PCLO	82420262	0.033000	0.19621	0.971000	0.41717	0.039000	0.13416	1.125000	0.31332	1.940000	0.56252	0.482000	0.46254	TTT		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82584410	82584410	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:82584410C>A	ENST00000333891.9	-	5	6196	c.5859G>T	c.(5857-5859)gaG>gaT	p.E1953D	PCLO_ENST00000423517.2_Missense_Mutation_p.E1953D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1953D(2)|p.E1884D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAATATAATCCTCTATTAGCA	0.368																																					p.E1953D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5859T	7						.						76.0	76.0	76.0					7																	82584410		1840	4085	5925	82422346	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5859G>T	7.37:g.82584410C>A	ENSP00000334319:p.Glu1953Asp	Somatic		Capture	Illumina HiSeq	Phase_I	82422346	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708579	0.15239	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22539	1.95;1.96	5.57	-0.483	0.12075	.	.	.	.	.	T	0.35537	0.0935	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.972	T	0.10405	-1.0631	9	0.87932	D	0	.	10.1629	0.42862	0.0:0.5293:0.0:0.4707	.	1953;1953	Q9Y6V0-5;Q9Y6V0-6	.;.	D	1884;1953;1953	ENSP00000334319:E1953D;ENSP00000388393:E1953D	ENSP00000334319:E1953D	E	-	3	2	PCLO	82422346	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.291000	0.18994	-0.159000	0.11021	-0.137000	0.14449	GAG		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82586203	82586203	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:82586203T>C	ENST00000333891.9	-	5	4403	c.4066A>G	c.(4066-4068)Agc>Ggc	p.S1356G	PCLO_ENST00000423517.2_Missense_Mutation_p.S1356G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S1356G(2)|p.S1287G(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTTGGGGGCTTTTAGGCTGC	0.403																																					p.S1356G												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A4066G	7						.						52.0	49.0	50.0					7																	82586203		1859	4090	5949	82424139	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4066A>G	7.37:g.82586203T>C	ENSP00000334319:p.Ser1356Gly	Somatic		Capture	Illumina HiSeq	Phase_I	82424139	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676684	0.47886	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21543	2.0;2.01	5.67	5.67	0.87782	.	.	.	.	.	T	0.46541	0.1398	M	0.75777	2.31	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.49011	-0.8983	9	0.87932	D	0	.	15.907	0.79439	0.0:0.0:0.0:1.0	.	1356;1356	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1287;1356;1356	ENSP00000334319:S1356G;ENSP00000388393:S1356G	ENSP00000334319:S1356G	S	-	1	0	PCLO	82424139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.478000	0.66806	2.147000	0.66899	0.533000	0.62120	AGC		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82785197	82785197	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:82785197T>G	ENST00000333891.9	-	2	1097	c.760A>C	c.(760-762)Aca>Cca	p.T254P	PCLO_ENST00000423517.2_Missense_Mutation_p.T254P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T254P(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTCCTGTACCTGGAGGT	0.478																																					p.T254P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A760C	7						.						99.0	90.0	93.0					7																	82785197		2002	4172	6174	82623133	SO:0001583	missense	27445	exon2			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.760A>C	7.37:g.82785197T>G	ENSP00000334319:p.Thr254Pro	Somatic		Capture	Illumina HiSeq	Phase_I	82623133	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817258	0.32145	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.37	-1.85	0.07784	.	.	.	.	.	T	0.12518	0.0304	L	0.38838	1.175	0.37497	D	0.916611	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.16928	-1.0386	9	0.87932	D	0	.	1.7655	0.03001	0.1255:0.1301:0.2581:0.4863	.	254;254	Q9Y6V0-5;Q9Y6V0-6	.;.	P	254	ENSP00000334319:T254P;ENSP00000388393:T254P	ENSP00000334319:T254P	T	-	1	0	PCLO	82623133	0.000000	0.05858	0.302000	0.25058	0.993000	0.82548	0.241000	0.18065	-0.189000	0.10482	0.533000	0.62120	ACA		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3E	9723	broad.mit.edu	37	7	83098574	83098574	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:83098574C>A	ENST00000307792.3	-	3	788	c.321G>T	c.(319-321)atG>atT	p.M107I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.M47I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	107	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.M107I(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTTCCCTTCATTATGCATT	0.294																																					p.M107I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G321T	7						.						130.0	114.0	120.0					7																	83098574		2201	4296	6497	82936510	SO:0001583	missense	9723	exon3			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.321G>T	7.37:g.83098574C>A	ENSP00000303212:p.Met107Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82936510	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156719	0.38119	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.22134	1.97;1.97;1.97	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043812	0.85682	D	0.000000	T	0.17831	0.0428	L	0.46670	1.46	0.41894	D	0.990387	B	0.09022	0.002	B	0.11329	0.006	T	0.07252	-1.0782	10	0.28530	T	0.3	.	8.1011	0.30857	0.0:0.7559:0.1608:0.0832	.	107	O15041	SEM3E_HUMAN	I	107;47;107;47	ENSP00000303212:M107I;ENSP00000405052:M47I;ENSP00000412867:M47I	ENSP00000303212:M107I	M	-	3	0	SEMA3E	82936510	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.764000	0.47613	2.595000	0.87683	0.650000	0.86243	ATG		0.294	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3A	10371	broad.mit.edu	37	7	83640381	83640381	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:83640381C>A	ENST00000265362.4	-	9	1266	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D318Y	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.D318Y(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTTTTAGGATCTTTAAAGTTC	0.303																																					p.D318Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G952T	7						.						61.0	65.0	63.0					7																	83640381		2201	4298	6499	83478317	SO:0001583	missense	10371	exon9			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.952G>T	7.37:g.83640381C>A	ENSP00000265362:p.Asp318Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	83478317	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852641	0.91355	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.11930	2.73;2.73	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45041	-0.9288	10	0.87932	D	0	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	318	Q14563	SEM3A_HUMAN	Y	318	ENSP00000265362:D318Y;ENSP00000415260:D318Y	ENSP00000265362:D318Y	D	-	1	0	SEMA3A	83478317	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.476000	0.81055	2.835000	0.97688	0.591000	0.81541	GAT		0.303	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3A	10371	broad.mit.edu	37	7	83764139	83764139	+	Missense_Mutation	SNP	C	C	T	rs376684446		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:83764139C>T	ENST00000265362.4	-	2	555	c.241G>A	c.(241-243)Gac>Aac	p.D81N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D81N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	81	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.D81N(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTAACCAGGTCGAATGAAAAT	0.358																																					p.D81N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G241A	7						.						99.0	96.0	97.0					7																	83764139		2203	4300	6503	83602075	SO:0001583	missense	10371	exon2			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.241G>A	7.37:g.83764139C>T	ENSP00000265362:p.Asp81Asn	Somatic		Capture	Illumina HiSeq	Phase_I	83602075	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	c	4.150	0.026195	0.08054	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.22134	1.97;1.97;1.97	4.79	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.213570	0.56097	N	0.000034	T	0.07234	0.0183	N	0.02916	-0.46	0.26223	N	0.979132	B	0.02656	0.0	B	0.04013	0.001	T	0.37502	-0.9703	10	0.02654	T	1	.	10.7511	0.46209	0.0:0.0765:0.0:0.9235	.	81	Q14563	SEM3A_HUMAN	N	81	ENSP00000265362:D81N;ENSP00000415260:D81N;ENSP00000391900:D81N	ENSP00000265362:D81N	D	-	1	0	SEMA3A	83602075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.414000	0.44627	0.757000	0.33036	-0.600000	0.04104	GAC		0.358	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3D	223117	broad.mit.edu	37	7	84644527	84644527	+	Missense_Mutation	SNP	T	T	A	rs138313782		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:84644527T>A	ENST00000284136.6	-	14	1594	c.1551A>T	c.(1549-1551)caA>caT	p.Q517H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	517	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.Q517H(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAATGTACAATTGTTGCTGCA	0.408																																					p.Q517H	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1551T	7						.						123.0	121.0	121.0					7																	84644527		2203	4300	6503	84482463	SO:0001583	missense	223117	exon14			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1551A>T	7.37:g.84644527T>A	ENSP00000284136:p.Gln517His	Somatic		Capture	Illumina HiSeq	Phase_I	84482463	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975517	0.74360	.	.	ENSG00000153993	ENST00000284136	T	0.22336	1.96	5.66	-2.15	0.07102	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.151772	0.64402	D	0.000011	T	0.29423	0.0733	M	0.86740	2.835	0.80722	D	1	P	0.49185	0.92	P	0.44561	0.453	T	0.37865	-0.9687	10	0.72032	D	0.01	.	10.9424	0.47281	0.0:0.3881:0.0:0.6119	.	517	O95025	SEM3D_HUMAN	H	517	ENSP00000284136:Q517H	ENSP00000284136:Q517H	Q	-	3	2	SEMA3D	84482463	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	0.718000	0.25866	-0.650000	0.05423	-0.375000	0.07067	CAA		0.408	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	broad.mit.edu	37	7	84727171	84727171	+	Missense_Mutation	SNP	C	C	A	rs201539964		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:84727171C>A	ENST00000284136.6	-	2	305	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	SEMA3D_ENST00000444867.1_Missense_Mutation_p.D88Y	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	88	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D88Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAGATGTGGTCTTTGGCTCCC	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		14145	0.001		0.0	False		,,,				2504	0.0				p.D88Y	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262T	7						.						115.0	119.0	118.0					7																	84727171		2203	4300	6503	84565107	SO:0001583	missense	223117	exon2			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.262G>T	7.37:g.84727171C>A	ENSP00000284136:p.Asp88Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	84565107	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.0	4.482193	0.84747	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.14640	2.49;2.49	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61212	-0.7108	10	0.87932	D	0	.	19.8892	0.96923	0.0:1.0:0.0:0.0	.	88;88	C9JYT6;O95025	.;SEM3D_HUMAN	Y	88	ENSP00000284136:D88Y;ENSP00000401366:D88Y	ENSP00000284136:D88Y	D	-	1	0	SEMA3D	84565107	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.887000	0.75616	2.777000	0.95525	0.591000	0.81541	GAC		0.348	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
KIAA1324L	222223	broad.mit.edu	37	7	86539281	86539281	+	Missense_Mutation	SNP	C	C	A	rs375781775		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:86539281C>A	ENST00000450689.2	-	16	2391	c.2206G>T	c.(2206-2208)Gac>Tac	p.D736Y	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D665Y|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D569Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D496Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	736						integral component of membrane (GO:0016021)		p.D496Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACTGTAAAGTCTGTTATATTG	0.358																																					p.D569Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705T	7						.						83.0	84.0	84.0					7																	86539281		2203	4300	6503	86377217	SO:0001583	missense	222223	exon15			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2206G>T	7.37:g.86539281C>A	ENSP00000413445:p.Asp736Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	86377217	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699396|4.699396	0.88830|0.88830	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.18960|.	2.43;2.2;2.18;2.18|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Mannose-6-phosphate receptor, binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76608|0.76608	0.4011|0.4011	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.76071|.	0.987;0.964;0.939|.	T|T	0.73544|0.73544	-0.3949|-0.3949	10|5	0.49607|.	T|.	0.09|.	.|.	19.545|19.545	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	736;496;569|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	Y|I	736;496;665;569|696	ENSP00000413445:D736Y;ENSP00000297222:D496Y;ENSP00000397377:D665Y;ENSP00000402390:D569Y|.	ENSP00000297222:D496Y|.	D|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86377217|86377217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.467000|7.467000	0.80930|0.80930	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
KIAA1324L	222223	broad.mit.edu	37	7	86542491	86542491	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:86542491C>A	ENST00000450689.2	-	14	1946	c.1761G>T	c.(1759-1761)aaG>aaT	p.K587N	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.K420N|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.K347N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	587						integral component of membrane (GO:0016021)		p.K347N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TAGAATAAATCTTCACCATGT	0.458																																					p.K420N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1260T	7						.						87.0	77.0	81.0					7																	86542491		2203	4300	6503	86380427	SO:0001583	missense	222223	exon13			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1761G>T	7.37:g.86542491C>A	ENSP00000413445:p.Lys587Asn	Somatic		Capture	Illumina HiSeq	Phase_I	86380427	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.229959|4.229959	0.79688|0.79688	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000416314	.|T;T;T	.|0.20200	.|2.34;2.09;2.11	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Growth factor, receptor (1);	.|0.048351	.|0.85682	.|D	.|0.000000	T|T	0.45696|0.45696	0.1355|0.1355	M|M	0.63428|0.63428	1.95|1.95	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.76494	.|0.999;0.976;0.996	.|D;P;P	.|0.70016	.|0.967;0.724;0.787	T|T	0.21211|0.21211	-1.0252|-1.0252	5|10	.|0.52906	.|T	.|0.07	.|.	18.8518|18.8518	0.92235|0.92235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;347;420	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	Y|N	548|587;347;420	.|ENSP00000413445:K587N;ENSP00000297222:K347N;ENSP00000402390:K420N	.|ENSP00000297222:K347N	D|K	-|-	1|3	0|2	KIAA1324L|KIAA1324L	86380427|86380427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.851000|2.851000	0.48302|0.48302	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.458	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
TMEM243	79161	broad.mit.edu	37	7	86827312	86827312	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:86827312A>G	ENST00000433078.1	-	4	620	c.179T>C	c.(178-180)tTg>tCg	p.L60S	TMEM243_ENST00000423734.1_Missense_Mutation_p.L60S|TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Missense_Mutation_p.L60S			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	60						integral component of membrane (GO:0016021)		p.L60S(1)									GAATATATTCAACGGTTTTGG	0.368																																					p.L60S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T179C	7						.						162.0	143.0	150.0					7																	86827312		2203	4299	6502	86665248	SO:0001583	missense	79161	exon3				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.179T>C	7.37:g.86827312A>G	ENSP00000398083:p.Leu60Ser	Somatic		Capture	Illumina HiSeq	Phase_I	86665248	NM_024315	A4D1C6|B2R9I4|D6W5P1	Missense_Mutation	SNP	ENST00000433078.1	37	CCDS5602.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721760	0.68959	.	.	ENSG00000135185	ENST00000257637;ENST00000433078;ENST00000423734	.	.	.	5.93	5.93	0.95920	.	0.156624	0.43579	D	0.000542	T	0.64416	0.2596	L	0.50333	1.59	0.51767	D	0.999932	P	0.45634	0.863	P	0.51135	0.66	T	0.67133	-0.5747	9	0.72032	D	0.01	-0.0314	15.5506	0.76148	1.0:0.0:0.0:0.0	.	60	Q9BU79	CG023_HUMAN	S	60	.	ENSP00000257637:L60S	L	-	2	0	C7orf23	86665248	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	8.553000	0.90686	2.261000	0.74972	0.459000	0.35465	TTG		0.368	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315	
ABCB4	5244	broad.mit.edu	37	7	87031524	87031524	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:87031524A>G	ENST00000265723.4	-	28	3860	c.3749T>C	c.(3748-3750)gTg>gCg	p.V1250A	ABCB4_ENST00000359206.3_Missense_Mutation_p.V1243A|ABCB4_ENST00000453593.1_Missense_Mutation_p.V1196A|ABCB4_ENST00000545634.1_Missense_Mutation_p.V1243A|ABCB4_ENST00000358400.3_Missense_Mutation_p.V1196A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1250	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.V1243A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGAAACACCACTATTAAGTC	0.517																																					p.V1250A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3749C	7						.						146.0	134.0	138.0					7																	87031524		2203	4300	6503	86869460	SO:0001583	missense	5244	exon28			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3749T>C	7.37:g.87031524A>G	ENSP00000265723:p.Val1250Ala	Somatic		Capture	Illumina HiSeq	Phase_I	86869460	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	4.049	0.006716	0.07866	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.3	4.14	0.48551	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.056950	0.64402	D	0.000002	T	0.54822	0.1882	L	0.43598	1.365	0.35007	D	0.756487	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.18263	0.003;0.021;0.009	T	0.52215	-0.8605	10	0.07813	T	0.8	-14.9353	6.7407	0.23435	0.8242:0.0:0.1758:0.0	.	1196;1243;1250	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	A	1243;1196;1250;1196;1243	ENSP00000352135:V1243A;ENSP00000351172:V1196A;ENSP00000265723:V1250A;ENSP00000392983:V1196A;ENSP00000437465:V1243A	ENSP00000265723:V1250A	V	-	2	0	ABCB4	86869460	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	4.439000	0.59968	2.122000	0.65172	0.533000	0.62120	GTG		0.517	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB1	5243	broad.mit.edu	37	7	87180062	87180062	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:87180062T>G	ENST00000265724.3	-	11	1509	c.1092A>C	c.(1090-1092)gaA>gaC	p.E364D	ABCB1_ENST00000543898.1_Missense_Mutation_p.E300D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	364					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E364D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTTGAAGATTTCATAAGCTG	0.373																																					p.E364D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1092C	7						.						137.0	131.0	133.0					7																	87180062		2203	4300	6503	87017998	SO:0001583	missense	5243	exon11			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1092A>C	7.37:g.87180062T>G	ENSP00000265724:p.Glu364Asp	Somatic		Capture	Illumina HiSeq	Phase_I	87017998	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	7.909	0.736146	0.15574	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.41400	1.0;1.0	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);	0.326250	0.37530	N	0.002059	T	0.26810	0.0656	N	0.24115	0.695	0.24802	N	0.992699	B;B	0.25272	0.011;0.122	B;B	0.23150	0.001;0.044	T	0.16928	-1.0386	10	0.21540	T	0.41	-30.2695	8.9117	0.35557	0.1247:0.0:0.1304:0.7449	.	300;364	B5AK60;P08183	.;MDR1_HUMAN	D	145;364;300	ENSP00000265724:E364D;ENSP00000444095:E300D	ENSP00000265724:E364D	E	-	3	2	ABCB1	87017998	0.000000	0.05858	0.999000	0.59377	0.782000	0.44232	-0.426000	0.07008	2.371000	0.80710	0.533000	0.62120	GAA		0.373	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
SLC25A40	55972	broad.mit.edu	37	7	87479241	87479241	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:87479241C>T	ENST00000341119.5	-	6	633	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	96					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R96Q(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GCCCTCATTTCGAATGATTTT	0.254																																					p.R96Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G287A	7						.						37.0	40.0	39.0					7																	87479241		2195	4290	6485	87317177	SO:0001583	missense	55972	exon6			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.287G>A	7.37:g.87479241C>T	ENSP00000344831:p.Arg96Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87317177	NM_018843	A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580854	0.86748	.	.	ENSG00000075303	ENST00000341119	T	0.79749	-1.3	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.059238	0.64402	D	0.000002	T	0.79021	0.4376	L	0.50993	1.605	0.58432	D	0.999991	P	0.43788	0.817	P	0.45681	0.49	T	0.79027	-0.1971	10	0.45353	T	0.12	-21.1372	12.2737	0.54721	0.0:0.8784:0.0:0.1216	.	96	Q8TBP6	S2540_HUMAN	Q	96	ENSP00000344831:R96Q	ENSP00000344831:R96Q	R	-	2	0	SLC25A40	87317177	0.849000	0.29639	1.000000	0.80357	0.990000	0.78478	1.213000	0.32407	2.588000	0.87417	0.655000	0.94253	CGA		0.254	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	
C7orf62	219557	broad.mit.edu	37	7	88423546	88423546	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:88423546T>C	ENST00000297203.2	-	2	896	c.711A>G	c.(709-711)atA>atG	p.I237M	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	237								p.I237M(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGTGATGTGTATGGGTCTAT	0.433																																					p.I237M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A711G	7						.						92.0	90.0	91.0					7																	88423546		2203	4300	6503	88261482	SO:0001583	missense	219557	exon2			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.711A>G	7.37:g.88423546T>C	ENSP00000297203:p.Ile237Met	Somatic		Capture	Illumina HiSeq	Phase_I	88261482	NM_152706		Missense_Mutation	SNP	ENST00000297203.2	37	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	T	7.599	0.672434	0.14776	.	.	ENSG00000164645	ENST00000297203	T	0.15718	2.4	6.17	-11.8	0.00035	.	0.311967	0.33057	N	0.005324	T	0.07728	0.0194	M	0.65975	2.015	0.09310	N	1	P	0.37207	0.587	B	0.29598	0.104	T	0.01762	-1.1279	10	0.42905	T	0.14	-16.1781	0.2395	0.00190	0.3644:0.1972:0.1862:0.2521	.	237	Q8TBZ9	CG062_HUMAN	M	237	ENSP00000297203:I237M	ENSP00000297203:I237M	I	-	3	3	C7orf62	88261482	0.908000	0.30866	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-1.567000	0.01671	-0.290000	0.09829	ATA		0.433	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706	
ZNF804B	219578	broad.mit.edu	37	7	88962859	88962859	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:88962859G>T	ENST00000333190.4	+	4	1172	c.563G>T	c.(562-564)cGa>cTa	p.R188L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	188							metal ion binding (GO:0046872)	p.R188L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATGCCAAATCGACACCAATTA	0.413										HNSCC(36;0.09)																											p.R188L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563T	7						.						113.0	109.0	111.0					7																	88962859		2203	4300	6503	88800795	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.563G>T	7.37:g.88962859G>T	ENSP00000329638:p.Arg188Leu	Somatic		Capture	Illumina HiSeq	Phase_I	88800795	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289724	0.40494	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	5.3	3.52	0.40303	.	0.129990	0.33938	N	0.004408	T	0.07458	0.0188	N	0.20401	0.57	0.27292	N	0.957828	D	0.64830	0.994	P	0.52672	0.706	T	0.22906	-1.0203	10	0.30078	T	0.28	-4.2873	10.2287	0.43243	0.2125:0.0:0.7875:0.0	.	188	A4D1E1	Z804B_HUMAN	L	188	ENSP00000329638:R188L	ENSP00000329638:R188L	R	+	2	0	ZNF804B	88800795	0.069000	0.21087	0.946000	0.38457	0.970000	0.65996	0.823000	0.27366	0.837000	0.34925	0.650000	0.86243	CGA		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ZNF804B	219578	broad.mit.edu	37	7	88963142	88963142	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:88963142T>G	ENST00000333190.4	+	4	1455	c.846T>G	c.(844-846)aaT>aaG	p.N282K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	282							metal ion binding (GO:0046872)	p.N282K(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAGGTAAATATCTCACCAA	0.363										HNSCC(36;0.09)																											p.N282K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T846G	7						.						70.0	66.0	68.0					7																	88963142		2202	4300	6502	88801078	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.846T>G	7.37:g.88963142T>G	ENSP00000329638:p.Asn282Lys	Somatic		Capture	Illumina HiSeq	Phase_I	88801078	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	6.819	0.520258	0.13005	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.04	-0.218	0.13142	.	0.929579	0.09061	N	0.854357	T	0.05640	0.0148	L	0.54323	1.7	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.37865	-0.9687	10	0.49607	T	0.09	-0.6379	1.155	0.01793	0.1539:0.2693:0.1509:0.4259	.	282	A4D1E1	Z804B_HUMAN	K	282	ENSP00000329638:N282K	ENSP00000329638:N282K	N	+	3	2	ZNF804B	88801078	0.001000	0.12720	0.001000	0.08648	0.539000	0.34962	-0.003000	0.12901	0.047000	0.15862	-0.801000	0.03215	AAT		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ZNF804B	219578	broad.mit.edu	37	7	88966318	88966318	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:88966318C>T	ENST00000333190.4	+	4	4631	c.4022C>T	c.(4021-4023)gCc>gTc	p.A1341V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1341							metal ion binding (GO:0046872)	p.A1341V(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGAAAGAGGCCTTAAATGTG	0.358										HNSCC(36;0.09)																											p.A1341V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4022T	7						.						57.0	58.0	58.0					7																	88966318		2202	4300	6502	88804254	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.4022C>T	7.37:g.88966318C>T	ENSP00000329638:p.Ala1341Val	Somatic		Capture	Illumina HiSeq	Phase_I	88804254	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511949	0.27036	.	.	ENSG00000182348	ENST00000333190	T	0.04551	3.6	5.2	3.4	0.38934	.	0.302390	0.28871	N	0.013865	T	0.02455	0.0075	N	0.17674	0.51	0.29887	N	0.825567	B	0.21071	0.051	B	0.15052	0.012	T	0.37663	-0.9696	10	0.08179	T	0.78	-2.8341	3.8131	0.08805	0.0:0.5588:0.1992:0.242	.	1341	A4D1E1	Z804B_HUMAN	V	1341	ENSP00000329638:A1341V	ENSP00000329638:A1341V	A	+	2	0	ZNF804B	88804254	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.800000	0.27042	1.557000	0.49525	0.655000	0.94253	GCC		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
STEAP1	26872	broad.mit.edu	37	7	89793876	89793876	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:89793876T>G	ENST00000297205.2	+	5	1048	c.848T>G	c.(847-849)tTt>tGt	p.F283C	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	283					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.F283C(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATAAAACAATTTGTATGGTAT	0.368																																					p.F283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T848G	7						.						121.0	115.0	117.0					7																	89793876		2203	4300	6503	89631812	SO:0001583	missense	26872	exon5			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.848T>G	7.37:g.89793876T>G	ENSP00000297205:p.Phe283Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89631812	NM_012449	A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.601354	0.66445	.	.	ENSG00000164647	ENST00000297205	T	0.08458	3.09	5.8	4.63	0.57726	.	0.098980	0.45361	D	0.000372	T	0.21509	0.0518	M	0.77820	2.39	0.41853	D	0.990189	D	0.64830	0.994	P	0.53722	0.733	T	0.01316	-1.1387	10	0.72032	D	0.01	-7.8942	12.164	0.54119	0.1283:0.0:0.0:0.8717	.	283	Q9UHE8	STEA1_HUMAN	C	283	ENSP00000297205:F283C	ENSP00000297205:F283C	F	+	2	0	STEAP1	89631812	0.958000	0.32768	0.966000	0.40874	0.979000	0.70002	1.619000	0.36965	0.986000	0.38683	0.533000	0.62120	TTT		0.368	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449	
CFAP69	79846	broad.mit.edu	37	7	89884764	89884764	+	Missense_Mutation	SNP	C	C	T	rs375665829		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:89884764C>T	ENST00000389297.4	+	2	399	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	C7orf63_ENST00000316089.8_Missense_Mutation_p.R50C|C7orf63_ENST00000497910.1_Missense_Mutation_p.R50C|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		50								p.R50C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGACCTTAATCGTGTCATCAA	0.333																																					p.R50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	7						.	C	CYS/ARG,CYS/ARG	0,3638		0,0,1819	226.0	218.0	221.0		148,148	-0.4	0.9	7		221	1,8157		0,1,4078	no	missense,missense	C7orf63	NM_001039706.2,NM_001160138.1	180,180	0,1,5897	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	50/942,50/924	89884764	1,11795	1819	4079	5898	89722700	SO:0001583	missense	79846	exon2																														ENST00000389297.4:c.148C>T	7.37:g.89884764C>T	ENSP00000373948:p.Arg50Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89722700	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	6.413	0.444393	0.12164	0.0	1.23E-4	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.44881	0.91;0.91;0.91	4.82	-0.361	0.12564	.	0.566616	0.17378	N	0.176406	T	0.25044	0.0608	L	0.38531	1.155	0.21579	N	0.999631	B;B;B	0.13145	0.007;0.007;0.002	B;B;B	0.13407	0.009;0.005;0.003	T	0.18398	-1.0338	10	0.59425	D	0.04	-0.3287	0.9448	0.01363	0.3114:0.3538:0.1518:0.183	.	50;50;50	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	C	50	ENSP00000373948:R50C;ENSP00000321753:R50C;ENSP00000419549:R50C	ENSP00000321753:R50C	R	+	1	0	C7orf63	89722700	0.838000	0.29461	0.879000	0.34478	0.099000	0.18886	0.266000	0.18534	0.236000	0.21180	-0.218000	0.12543	CGT		0.333	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CFAP69	79846	broad.mit.edu	37	7	89900843	89900843	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:89900843A>G	ENST00000389297.4	+	7	787	c.536A>G	c.(535-537)tAc>tGc	p.Y179C	C7orf63_ENST00000316089.8_Missense_Mutation_p.Y179C|C7orf63_ENST00000497910.1_Missense_Mutation_p.Y161C|C7orf63_ENST00000463311.1_3'UTR|AC002064.4_ENST00000420245.1_RNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		179								p.Y179C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTGTTAGGTTACCAGCAAGCG	0.323																																					p.Y179C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A536G	7						.						90.0	84.0	86.0					7																	89900843		1843	4090	5933	89738779	SO:0001583	missense	79846	exon7																														ENST00000389297.4:c.536A>G	7.37:g.89900843A>G	ENSP00000373948:p.Tyr179Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89738779	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424472	0.62733	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.14893	2.48;2.48;2.47;2.48	6.02	6.02	0.97574	.	0.235751	0.36591	N	0.002517	T	0.41213	0.1149	M	0.73598	2.24	0.39441	D	0.967243	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.936;0.988;0.997	T	0.38993	-0.9635	10	0.62326	D	0.03	-5.7027	11.5919	0.50951	0.867:0.0:0.0:0.133	.	161;179;177	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	C	179;179;161;119	ENSP00000373948:Y179C;ENSP00000321753:Y179C;ENSP00000419549:Y161C;ENSP00000392365:Y119C	ENSP00000321753:Y179C	Y	+	2	0	C7orf63	89738779	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.745000	0.38278	2.306000	0.77630	0.482000	0.46254	TAC		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CLDN12	9069	broad.mit.edu	37	7	90042546	90042546	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:90042546T>C	ENST00000287916.4	+	3	843	c.556T>C	c.(556-558)Ttt>Ctt	p.F186L	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.F186L|CLDN12_ENST00000535571.1_Missense_Mutation_p.F186L	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	186					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.F186L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TGGGGGCCTGTTTATGACTTC	0.408																																					p.F186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T556C	7						.						181.0	177.0	178.0					7																	90042546		2203	4300	6503	89880482	SO:0001583	missense	9069	exon4			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.556T>C	7.37:g.90042546T>C	ENSP00000287916:p.Phe186Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89880482	NM_001185072	D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482702	0.44147	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.39;-0.55	5.45	5.45	0.79879	.	0.146307	0.64402	D	0.000006	T	0.51873	0.1700	N	0.12182	0.205	0.47374	D	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.49495	-0.8934	10	0.12103	T	0.63	-10.7311	15.6799	0.77360	0.0:0.0:0.0:1.0	.	186	P56749	CLD12_HUMAN	L	186	ENSP00000419053:F186L;ENSP00000287916:F186L;ENSP00000443476:F186L;ENSP00000378102:F186L;ENSP00000378103:F186L	ENSP00000287916:F186L	F	+	1	0	CLDN12	89880482	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.685000	0.61693	2.289000	0.77006	0.533000	0.62120	TTT		0.408	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129	
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:90895665C>T	ENST00000287934.2	+	1	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	490					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F490F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612																																					p.F490F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470T	7						.						195.0	171.0	179.0					7																	90895665		2203	4300	6503	90733601	SO:0001819	synonymous_variant	8321	exon1			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1470C>T	7.37:g.90895665C>T		Somatic		Capture	Illumina HiSeq	Phase_I	90733601	NM_003505	A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	CCDS5620.1																																																																																				0.612	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
MTERF1	7978	broad.mit.edu	37	7	91503023	91503023	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91503023C>T	ENST00000351870.3	-	3	1178	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	MTERF_ENST00000419292.1_Missense_Mutation_p.R342Q|MTERF_ENST00000406735.2_Missense_Mutation_p.R342Q	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		362					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.R362Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTCTTTGATTCGACTTTTTAA	0.313																																					p.R362Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	7						.						85.0	84.0	85.0					7																	91503023		2202	4300	6502	91340959	SO:0001583	missense	7978	exon3																														ENST00000351870.3:c.1085G>A	7.37:g.91503023C>T	ENSP00000248643:p.Arg362Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91340959	NM_006980	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597035	0.87055	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.12879	2.64;2.64;2.64	4.89	4.01	0.46588	.	0.000000	0.64402	D	0.000008	T	0.35393	0.0930	M	0.70275	2.135	0.46298	D	0.998978	D	0.89917	1.0	D	0.91635	0.999	T	0.16748	-1.0392	10	0.87932	D	0	-4.2248	13.0011	0.58676	0.0:0.918:0.0:0.082	.	362	Q99551	MTERF_HUMAN	Q	342;362;342	ENSP00000414116:R342Q;ENSP00000248643:R362Q;ENSP00000384986:R342Q	ENSP00000248643:R362Q	R	-	2	0	MTERF	91340959	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.081000	0.64444	1.382000	0.46385	0.591000	0.81541	CGA		0.313	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
AKAP9	10142	broad.mit.edu	37	7	91631427	91631427	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91631427A>G	ENST00000359028.2	+	9	2457	c.2232A>G	c.(2230-2232)agA>agG	p.R744R	AKAP9_ENST00000358100.2_Silent_p.R744R|AKAP9_ENST00000356239.3_Silent_p.R732R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	744	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R744R(1)|p.R732R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATACTCAGACAAGAAGAAA	0.294			T	BRAF	papillary thyroid																																p.R732R			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2196G	7						.						24.0	26.0	25.0					7																	91631427		2097	4232	6329	91469363	SO:0001819	synonymous_variant	10142	exon8			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2232A>G	7.37:g.91631427A>G		Somatic		Capture	Illumina HiSeq	Phase_I	91469363	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91668064	91668064	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91668064A>C	ENST00000359028.2	+	18	4931	c.4706A>C	c.(4705-4707)aAa>aCa	p.K1569T	AKAP9_ENST00000358100.2_Missense_Mutation_p.K1569T|AKAP9_ENST00000356239.3_Missense_Mutation_p.K1557T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1569					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K1569T(1)|p.K1557T(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCAAAGATAAAACATTTATA	0.289			T	BRAF	papillary thyroid																																p.K1557T			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4670C	7						.						44.0	51.0	48.0					7																	91668064		2200	4288	6488	91506000	SO:0001583	missense	10142	exon17			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4706A>C	7.37:g.91668064A>C	ENSP00000351922:p.Lys1569Thr	Somatic		Capture	Illumina HiSeq	Phase_I	91506000	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	8.423	0.846791	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03272	3.99;3.99;3.99	5.1	1.28	0.21552	.	0.786356	0.10595	N	0.656355	T	0.04952	0.0133	L	0.36672	1.1	0.21416	N	0.999696	B;B;P;P	0.38504	0.201;0.302;0.493;0.634	B;B;B;B	0.41894	0.051;0.109;0.109;0.369	T	0.41645	-0.9497	10	0.66056	D	0.02	.	8.757	0.34652	0.7699:0.0:0.2301:0.0	.	1569;1557;1557;1569	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	1557;1569;1569;1569;1569	ENSP00000348573:K1557T;ENSP00000351922:K1569T;ENSP00000350813:K1569T	ENSP00000348573:K1557T	K	+	2	0	AKAP9	91506000	0.860000	0.29831	0.989000	0.46669	0.620000	0.37586	0.698000	0.25571	0.330000	0.23485	0.482000	0.46254	AAA		0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91674410	91674410	+	Missense_Mutation	SNP	C	C	T	rs144269839		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91674410C>T	ENST00000359028.2	+	22	5512	c.5287C>T	c.(5287-5289)Cgc>Tgc	p.R1763C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1763C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1751C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1763					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R1763C(1)|p.R1751C(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAATTGGTCGCCATGTCCT	0.408			T	BRAF	papillary thyroid																																p.R1751C			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5251T	7						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	110.0	109.0		5251,5251	4.5	1.0	7	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	AKAP9	NM_005751.4,NM_147185.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1751/3908,1751/3900	91674410	1,13005	2203	4300	6503	91512346	SO:0001583	missense	10142	exon21			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5287C>T	7.37:g.91674410C>T	ENSP00000351922:p.Arg1763Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91512346	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	16.93	3.258769	0.59321	2.27E-4	0.0	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03580	3.89;3.89;3.88	4.54	4.54	0.55810	.	0.000000	0.42420	D	0.000712	T	0.18130	0.0435	M	0.69823	2.125	0.51233	D	0.99991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.976;0.989;0.997	T	0.00392	-1.1768	10	0.87932	D	0	.	17.9022	0.88907	0.0:1.0:0.0:0.0	.	1763;1751;1751	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1751;1763;1763;1763	ENSP00000348573:R1751C;ENSP00000351922:R1763C;ENSP00000350813:R1763C	ENSP00000348573:R1751C	R	+	1	0	AKAP9	91512346	0.948000	0.32251	1.000000	0.80357	0.997000	0.91878	3.534000	0.53568	2.520000	0.84964	0.650000	0.86243	CGC		0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91711866	91711866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91711866G>T	ENST00000359028.2	+	33	8311	c.8086G>T	c.(8086-8088)Gaa>Taa	p.E2696*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E2696*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E2684*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2696	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E2696*(1)|p.E2684*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGCAATGAAGAAAGTGGATT	0.348			T	BRAF	papillary thyroid																																p.E2676X			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8026T	7						.						68.0	71.0	70.0					7																	91711866		2203	4300	6503	91549802	SO:0001587	stop_gained	10142	exon32			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8086G>T	7.37:g.91711866G>T	ENSP00000351922:p.Glu2696*	Somatic		Capture	Illumina HiSeq	Phase_I	91549802	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	47	13.783230	0.99763	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.02	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	11.1517	0.48462	0.0849:0.0:0.9151:0.0	.	.	.	.	X	2684;2696;2696;2688;530	.	ENSP00000348573:E2684X	E	+	1	0	AKAP9	91549802	1.000000	0.71417	0.056000	0.19401	0.004000	0.04260	4.796000	0.62496	1.490000	0.48466	-0.225000	0.12378	GAA		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91715619	91715619	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:91715619C>A	ENST00000359028.2	+	37	9339	c.9114C>A	c.(9112-9114)ttC>ttA	p.F3038L	AKAP9_ENST00000358100.2_Missense_Mutation_p.F2984L|AKAP9_ENST00000356239.3_Missense_Mutation_p.F3034L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3038					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.F3038L(1)|p.F3034L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAAGTTTTCTTAGAAGAGC	0.418			T	BRAF	papillary thyroid																																p.F3026L			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9078A	7						.						187.0	181.0	183.0					7																	91715619		2203	4300	6503	91553555	SO:0001583	missense	10142	exon37			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9114C>A	7.37:g.91715619C>A	ENSP00000351922:p.Phe3038Leu	Somatic		Capture	Illumina HiSeq	Phase_I	91553555	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.68|12.68	2.009201|2.009201	0.35415|0.35415	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T;T|.	0.08634|.	3.17;3.15;3.36;3.07|.	4.89|4.89	3.06|3.06	0.35304|0.35304	.|.	0.000000|.	0.40818|.	N|.	0.001013|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.82630|0.82630	2.6|2.6	0.42479|0.42479	D|D	0.992857|0.992857	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.997;0.997;0.994;0.997;0.997|.	T|T	0.72456|0.72456	-0.4288|-0.4288	10|5	0.49607|.	T|.	0.09|.	.|.	7.4839|7.4839	0.27421|0.27421	0.0:0.687:0.0:0.313|0.0:0.687:0.0:0.313	.|.	3038;3038;3038;3034;3026|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	L|Y	3034;3038;2984;3038;880|179	ENSP00000348573:F3034L;ENSP00000351922:F3038L;ENSP00000350813:F2984L;ENSP00000378042:F880L|.	ENSP00000348573:F3034L|.	F|S	+|+	3|2	2|0	AKAP9|AKAP9	91553555|91553555	0.369000|0.369000	0.25039|0.25039	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.519000|0.519000	0.22862|0.22862	1.390000|1.390000	0.46547|0.46547	0.585000|0.585000	0.79938|0.79938	TTC|TCT		0.418	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
RBM48	84060	broad.mit.edu	37	7	92158877	92158877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92158877G>A	ENST00000265732.5	+	2	240	c.199G>A	c.(199-201)Gct>Act	p.A67T	PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000438045.1_5'Flank|RBM48_ENST00000481551.1_Missense_Mutation_p.A67T|PEX1_ENST00000248633.4_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	67	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A67T(1)									TGAGCGATTCGCTTTATATGG	0.348																																					p.A67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	7						.						119.0	112.0	115.0					7																	92158877		1854	4091	5945	91996813	SO:0001583	missense	84060	exon2			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.199G>A	7.37:g.92158877G>A	ENSP00000265732:p.Ala67Thr	Somatic		Capture	Illumina HiSeq	Phase_I	91996813	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913932	0.92178	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	L	0.45581	1.43	0.80722	D	1	P;D;D	0.89917	0.707;1.0;0.982	B;D;P	0.97110	0.136;1.0;0.723	T	0.77109	-0.2709	9	0.87932	D	0	.	19.5999	0.95557	0.0:0.0:1.0:0.0	.	67;67;67	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	T	69;67;67;9;67	.	ENSP00000265732:A67T	A	+	1	0	C7orf64	91996813	1.000000	0.71417	0.986000	0.45419	0.770000	0.43624	9.420000	0.97426	2.700000	0.92200	0.655000	0.94253	GCT		0.348	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
FAM133B	257415	broad.mit.edu	37	7	92207636	92207636	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92207636T>C	ENST00000445716.1	-	4	375	c.273A>G	c.(271-273)agA>agG	p.R91R	FAM133B_ENST00000427372.1_Silent_p.R81R|FAM133B_ENST00000438306.1_Silent_p.R81R	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	91	Lys-rich.|Ser-rich.						poly(A) RNA binding (GO:0044822)	p.R91R(2)		endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTATTACCTGTCTTTTTTTGG	0.338																																					p.R91R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A273G	7						.						110.0	95.0	100.0					7																	92207636		1835	4093	5928	92045572	SO:0001819	synonymous_variant	257415	exon4				CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.273A>G	7.37:g.92207636T>C		Somatic		Capture	Illumina HiSeq	Phase_I	92045572	NM_152789	B2R994|Q05D67|Q6P5S6|Q8N0W8	Silent	SNP	ENST00000445716.1	37	CCDS47640.1																																																																																				0.338	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342181.2	NM_001040057	
SAMD9	54809	broad.mit.edu	37	7	92731456	92731456	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92731456G>T	ENST00000379958.2	-	3	4224	c.3955C>A	c.(3955-3957)Ctt>Att	p.L1319I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1319						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L1319I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGATCCAAGACCTGTGTTG	0.378																																					p.L1319I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3955A	7						.						98.0	105.0	103.0					7																	92731456		2201	4298	6499	92569392	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3955C>A	7.37:g.92731456G>T	ENSP00000369292:p.Leu1319Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92569392	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136475	0.01742	.	.	ENSG00000205413	ENST00000379958	T	0.22743	1.94	4.46	-2.64	0.06114	.	2.230900	0.02467	U	0.087165	T	0.14657	0.0354	L	0.42245	1.32	0.09310	N	1	B	0.23128	0.08	B	0.14578	0.011	T	0.10660	-1.0620	10	0.16420	T	0.52	-0.4604	2.05	0.03568	0.4553:0.2363:0.1887:0.1197	.	1319	Q5K651	SAMD9_HUMAN	I	1319	ENSP00000369292:L1319I	ENSP00000369292:L1319I	L	-	1	0	SAMD9	92569392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.101000	0.15251	-0.911000	0.03843	-0.310000	0.09108	CTT		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92733424	92733424	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92733424T>C	ENST00000379958.2	-	3	2256	c.1987A>G	c.(1987-1989)Aca>Gca	p.T663A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	663						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.T663A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAGTGTACCCTCACAT	0.383																																					p.T663A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1987G	7						.						114.0	114.0	114.0					7																	92733424		2203	4299	6502	92571360	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1987A>G	7.37:g.92733424T>C	ENSP00000369292:p.Thr663Ala	Somatic		Capture	Illumina HiSeq	Phase_I	92571360	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	9.723	1.160236	0.21454	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.26373	1.74;2.56	4.21	4.21	0.49690	.	0.187432	0.35096	N	0.003452	T	0.47948	0.1473	M	0.70595	2.14	0.35933	D	0.832623	D	0.76494	0.999	D	0.78314	0.991	T	0.60652	-0.7221	10	0.54805	T	0.06	.	12.5117	0.56009	0.0:0.0:0.0:1.0	.	663	Q5K651	SAMD9_HUMAN	A	663	ENSP00000369292:T663A;ENSP00000414529:T663A	ENSP00000369292:T663A	T	-	1	0	SAMD9	92571360	1.000000	0.71417	0.117000	0.21633	0.084000	0.17831	5.423000	0.66458	1.891000	0.54761	0.496000	0.49642	ACA		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92733543	92733543	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92733543G>T	ENST00000379958.2	-	3	2137	c.1868C>A	c.(1867-1869)tCt>tAt	p.S623Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	623						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.S623Y(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGAGTCACAGATTTTAGTTT	0.343																																					p.S623Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1868A	7						.						99.0	100.0	100.0					7																	92733543		2202	4300	6502	92571479	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1868C>A	7.37:g.92733543G>T	ENSP00000369292:p.Ser623Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	92571479	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943613	0.53079	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.26373	1.74;2.55	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000014	T	0.47673	0.1458	M	0.66939	2.045	0.38733	D	0.953722	D	0.76494	0.999	D	0.65573	0.936	T	0.54583	-0.8272	10	0.62326	D	0.03	.	15.9333	0.79683	0.0:0.0:1.0:0.0	.	623	Q5K651	SAMD9_HUMAN	Y	623	ENSP00000369292:S623Y;ENSP00000414529:S623Y	ENSP00000369292:S623Y	S	-	2	0	SAMD9	92571479	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.391000	0.79828	2.417000	0.82017	0.603000	0.83216	TCT		0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	broad.mit.edu	37	7	92760715	92760715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92760715G>A	ENST00000318238.4	-	5	5786	c.4570C>T	c.(4570-4572)Cgt>Tgt	p.R1524C	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1524C|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1524C	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1524					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.R1524C(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAGTTAGACGACGCAGGAGG	0.403																																					p.R1524C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4570T	7						.						135.0	133.0	134.0					7																	92760715		2203	4300	6503	92598651	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4570C>T	7.37:g.92760715G>A	ENSP00000326247:p.Arg1524Cys	Somatic		Capture	Illumina HiSeq	Phase_I	92598651	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	9.370	1.070148	0.20147	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.31247	1.5;1.5;1.5	5.01	4.13	0.48395	.	0.235442	0.32868	N	0.005557	T	0.29093	0.0723	L	0.55990	1.75	0.09310	N	1	B	0.29805	0.257	B	0.23419	0.046	T	0.27468	-1.0073	10	0.72032	D	0.01	-1.5176	12.9178	0.58214	0.0789:0.0:0.9211:0.0	.	1524	Q8IVG5	SAM9L_HUMAN	C	1524;1524;1524;346	ENSP00000326247:R1524C;ENSP00000405760:R1524C;ENSP00000408796:R1524C	ENSP00000326247:R1524C	R	-	1	0	SAMD9L	92598651	0.001000	0.12720	0.008000	0.14137	0.005000	0.04900	1.070000	0.30653	1.344000	0.45657	0.467000	0.42956	CGT		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92763643	92763643	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92763643G>T	ENST00000318238.4	-	5	2858	c.1642C>A	c.(1642-1644)Cta>Ata	p.L548I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L548I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L548I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	548					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L548I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAGTAATAGAAACACTACC	0.358																																					p.L548I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1642A	7						.						39.0	43.0	41.0					7																	92763643		2202	4299	6501	92601579	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1642C>A	7.37:g.92763643G>T	ENSP00000326247:p.Leu548Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92601579	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444134	0.25987	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38560	1.13;1.13;1.13	4.74	1.9	0.25705	.	0.264128	0.23930	N	0.043150	T	0.29223	0.0727	L	0.52759	1.655	0.28679	N	0.905211	P	0.41450	0.75	B	0.36092	0.217	T	0.24048	-1.0171	10	0.54805	T	0.06	-7.1683	3.5089	0.07701	0.2563:0.0:0.3746:0.3691	.	548	Q8IVG5	SAM9L_HUMAN	I	548	ENSP00000326247:L548I;ENSP00000405760:L548I;ENSP00000408796:L548I	ENSP00000326247:L548I	L	-	1	2	SAMD9L	92601579	0.992000	0.36948	0.420000	0.26596	0.411000	0.31082	0.976000	0.29462	0.210000	0.20664	0.460000	0.39030	CTA		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92764270	92764270	+	Missense_Mutation	SNP	G	G	T	rs138238924	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92764270G>T	ENST00000318238.4	-	5	2231	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L339I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L339I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	339					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L339F(1)|p.L339I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACAGTGAAAGATTTTGGTTT	0.328													G|||	7	0.00139776	0.0	0.0	5008	,	,		19666	0.006		0.0	False		,,,				2504	0.001				p.L339I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1015A	7						.						96.0	103.0	101.0					7																	92764270		2202	4300	6502	92602206	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1015C>A	7.37:g.92764270G>T	ENSP00000326247:p.Leu339Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92602206	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	0.004	-2.353203	0.00217	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13657	2.57;2.57;2.57	4.74	-9.48	0.00591	.	6.659910	0.00166	N	0.000006	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.16424	-1.0403	10	0.22706	T	0.39	23.1878	3.2228	0.06721	0.4055:0.0721:0.1081:0.4144	.	339	Q8IVG5	SAM9L_HUMAN	I	339	ENSP00000326247:L339I;ENSP00000405760:L339I;ENSP00000408796:L339I	ENSP00000326247:L339I	L	-	1	0	SAMD9L	92602206	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.850000	0.00351	-4.173000	0.00067	-2.835000	0.00106	CTT		0.328	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92764879	92764879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92764879G>A	ENST00000318238.4	-	5	1622	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L136F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L136F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	136					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L136F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCATAAGAATTGATTCT	0.313																																					p.L136F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406T	7						.						140.0	147.0	144.0					7																	92764879		2203	4299	6502	92602815	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.406C>T	7.37:g.92764879G>A	ENSP00000326247:p.Leu136Phe	Somatic		Capture	Illumina HiSeq	Phase_I	92602815	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006624	0.07773	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.15372	2.43;2.43;2.43	4.31	2.41	0.29592	.	0.997937	0.08107	N	0.996805	T	0.16300	0.0392	L	0.53249	1.67	0.09310	N	1	B;B	0.32101	0.356;0.012	B;B	0.29598	0.104;0.008	T	0.29058	-1.0024	10	0.29301	T	0.29	1.8665	7.2172	0.25967	0.0:0.3034:0.3859:0.3107	.	136;136	Q8IVG5-2;Q8IVG5	.;SAM9L_HUMAN	F	136	ENSP00000326247:L136F;ENSP00000405760:L136F;ENSP00000408796:L136F	ENSP00000326247:L136F	L	-	1	0	SAMD9L	92602815	0.012000	0.17670	0.001000	0.08648	0.011000	0.07611	0.895000	0.28363	0.411000	0.25702	0.460000	0.39030	CTT		0.313	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
CCDC132	55610	broad.mit.edu	37	7	92926544	92926544	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92926544G>T	ENST00000305866.5	+	16	1478	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000544910.1_Missense_Mutation_p.K420N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	450						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.K450N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTATTTCAAGAATTACCATA	0.284																																					p.K450N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1350T	7						.						53.0	51.0	52.0					7																	92926544		1793	4057	5850	92764480	SO:0001583	missense	55610	exon16			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1350G>T	7.37:g.92926544G>T	ENSP00000307666:p.Lys450Asn	Somatic		Capture	Illumina HiSeq	Phase_I	92764480	NM_017667	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.166804|2.166804	0.38217|0.38217	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.47528|.	0.84|.	5.16|5.16	0.925|0.925	0.19424|0.19424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.71674|.	0.998;0.989;0.981|.	D;D;D|.	0.76071|.	0.987;0.985;0.966|.	T|T	0.60209|0.60209	-0.7308|-0.7308	10|5	0.62326|.	D|.	0.03|.	-21.6931|-21.6931	11.7633|11.7633	0.51916|0.51916	0.4384:0.0:0.5616:0.0|0.4384:0.0:0.5616:0.0	.|.	170;420;450|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	N|I	450;420;261;170;181|237	ENSP00000325582:K181N|.	ENSP00000307666:K450N|.	K|R	+|+	3|2	2|0	CCDC132|CCDC132	92764480|92764480	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.599000|0.599000	0.36880|0.36880	1.198000|1.198000	0.32223|0.32223	-0.251000|-0.251000	0.09542|0.09542	-1.151000|-1.151000	0.01829|0.01829	AAG|AGA		0.284	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
CCDC132	55610	broad.mit.edu	37	7	92978115	92978115	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:92978115C>A	ENST00000305866.5	+	24	2428	c.2300C>A	c.(2299-2301)tCt>tAt	p.S767Y	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.S737Y|CCDC132_ENST00000541136.1_Missense_Mutation_p.S578Y|CCDC132_ENST00000535481.1_Missense_Mutation_p.S487Y	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	767						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S767Y(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTCTATTCTCAGGTCAGA	0.408																																					p.S767Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2300A	7						.						151.0	143.0	145.0					7																	92978115		1907	4129	6036	92816051	SO:0001583	missense	55610	exon24			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2300C>A	7.37:g.92978115C>A	ENSP00000307666:p.Ser767Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	92816051	NM_017667	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821378	0.90873	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.12	5.12	0.69794	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.72894	2.215	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.83275	0.996;0.994;0.993	T	0.80899	-0.1176	9	0.62326	D	0.03	-13.5797	18.9513	0.92642	0.0:1.0:0.0:0.0	.	487;737;767	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	Y	767;737;578;487	.	ENSP00000307666:S767Y	S	+	2	0	CCDC132	92816051	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.622000	0.83099	2.539000	0.85634	0.655000	0.94253	TCT		0.408	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
CALCR	799	broad.mit.edu	37	7	93073027	93073027	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:93073027C>G	ENST00000394441.1	-	8	1006	c.691G>C	c.(691-693)Gcc>Ccc	p.A231P	CALCR_ENST00000360249.4_Missense_Mutation_p.A247P|CALCR_ENST00000426151.1_Missense_Mutation_p.A231P|CALCR_ENST00000359558.2_Missense_Mutation_p.A265P|CALCR_ENST00000421592.1_Missense_Mutation_p.A247P	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	265					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A231P(1)|p.A265P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TAGTTGCAGGCCATCATGTAC	0.443																																					p.A265P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G793C	7						.						136.0	126.0	130.0					7																	93073027		2203	4300	6503	92910963	SO:0001583	missense	799	exon11			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.691G>C	7.37:g.93073027C>G	ENSP00000377959:p.Ala231Pro	Somatic		Capture	Illumina HiSeq	Phase_I	92910963	NM_001164737	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235027	0.39498	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.94	-5.07	0.02938	.	.	.	.	.	T	0.46541	0.1398	L	0.52573	1.65	0.30877	N	0.731881	P;B	0.37141	0.584;0.087	B;B	0.39738	0.308;0.251	T	0.51949	-0.8640	9	0.72032	D	0.01	.	20.1708	0.98159	0.778:0.222:0.0:0.0	.	265;231	F5H605;A4D1G6	.;.	P	265;247;247;231;231	ENSP00000352561:A265P;ENSP00000353385:A247P;ENSP00000399552:A247P;ENSP00000377959:A231P;ENSP00000389295:A231P	ENSP00000352561:A265P	A	-	1	0	CALCR	92910963	0.999000	0.42202	0.209000	0.23619	0.967000	0.64934	0.900000	0.28431	-1.144000	0.02862	-1.404000	0.01136	GCC		0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
CASD1	64921	broad.mit.edu	37	7	94174909	94174909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94174909G>A	ENST00000297273.4	+	12	1816	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	510						integral component of membrane (GO:0016021)		p.R510Q(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTAATGGATCGACCTTATCAA	0.333																																					p.R510Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1529A	7						.						212.0	180.0	191.0					7																	94174909		2203	4299	6502	94012845	SO:0001583	missense	64921	exon12			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1529G>A	7.37:g.94174909G>A	ENSP00000297273:p.Arg510Gln	Somatic		Capture	Illumina HiSeq	Phase_I	94012845	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774781	0.90108	.	.	ENSG00000127995	ENST00000297273	T	0.50548	0.74	5.02	3.22	0.36961	.	0.058260	0.64402	N	0.000002	T	0.49745	0.1575	M	0.81497	2.545	0.54753	D	0.999984	B;B	0.22414	0.069;0.069	B;B	0.20767	0.031;0.031	T	0.52056	-0.8626	10	0.66056	D	0.02	.	11.6099	0.51053	0.1467:0.0:0.8533:0.0	.	510;510	Q8WZ77;Q96PB1	.;CASD1_HUMAN	Q	510	ENSP00000297273:R510Q	ENSP00000297273:R510Q	R	+	2	0	CASD1	94012845	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.691000	0.74573	0.637000	0.30526	0.491000	0.48974	CGA		0.333	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
SGCE	8910	broad.mit.edu	37	7	94257614	94257614	+	Missense_Mutation	SNP	C	C	T	rs11548285		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94257614C>T	ENST00000265735.7	-	3	400	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SGCE_ENST00000445866.2_Missense_Mutation_p.R97Q|SGCE_ENST00000447873.1_Missense_Mutation_p.R97Q|SGCE_ENST00000437425.2_Missense_Mutation_p.R56Q|SGCE_ENST00000415788.2_Missense_Mutation_p.R133Q|SGCE_ENST00000428696.2_Missense_Mutation_p.R97Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	97					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.R97Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATCCAGGTCGGTCTGGGTA	0.393																																					p.R97Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	7						.						88.0	81.0	83.0					7																	94257614		2203	4298	6501	94095550	SO:0001583	missense	8910	exon3			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.290G>A	7.37:g.94257614C>T	ENSP00000265735:p.Arg97Gln	Somatic		Capture	Illumina HiSeq	Phase_I	94095550	NM_001099400	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495044	0.96339	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	5.5	5.5	0.81552	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.999;0.999	D;D;D;D;D	0.75484	0.98;0.979;0.929;0.95;0.986	D	0.99864	1.1087	10	0.72032	D	0.01	-16.8508	19.7702	0.96361	0.0:1.0:0.0:0.0	rs11548285;rs11548285	133;56;97;97;97	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	Q	97;97;56;97;97;133	ENSP00000265735:R97Q;ENSP00000398930:R97Q;ENSP00000394061:R56Q;ENSP00000388734:R97Q;ENSP00000397536:R97Q;ENSP00000405313:R133Q	ENSP00000265735:R97Q	R	-	2	0	SGCE	94095550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	CGA		0.393	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2		
PEG10	23089	broad.mit.edu	37	7	94293537	94293537	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94293537C>T	ENST00000482108.1	+	2	1148	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PEG10_ENST00000488574.1_Silent_p.V223V	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	223	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V223V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCTCGAGGTCGCCAAGTCGC	0.627																																					p.V223V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C669T	7						.						70.0	75.0	74.0					7																	94293537		2116	4226	6342	94131473	SO:0001819	synonymous_variant	23089	exon2			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.669C>T	7.37:g.94293537C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94131473	NM_015068	Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	CCDS55126.1																																																																																				0.627	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068	
PPP1R9A	55607	broad.mit.edu	37	7	94539735	94539735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94539735G>T	ENST00000433881.1	+	2	842	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E104*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E104*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E104*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E104*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E104*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	104	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E104*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAGCCCAAAGAATTTCTGGA	0.423										HNSCC(28;0.073)																											p.E104X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G310T	7						.						60.0	62.0	61.0					7																	94539735		2203	4300	6503	94377671	SO:0001587	stop_gained	55607	exon1			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.310G>T	7.37:g.94539735G>T	ENSP00000398870:p.Glu104*	Somatic		Capture	Illumina HiSeq	Phase_I	94377671	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329464	0.60743	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.75	5.75	0.90469	.	0.154316	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	.	E	+	1	0	PPP1R9A	94377671	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.966000	0.63715	2.885000	0.99019	0.655000	0.94253	GAA		0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PPP1R9A	55607	broad.mit.edu	37	7	94540569	94540569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94540569G>T	ENST00000433881.1	+	2	1676	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E382*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	382					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E382*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTGGAAAAGAAGTACCTGA	0.433										HNSCC(28;0.073)																											p.E382X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1144T	7						.						78.0	81.0	80.0					7																	94540569		2203	4300	6503	94378505	SO:0001587	stop_gained	55607	exon1			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1144G>T	7.37:g.94540569G>T	ENSP00000398870:p.Glu382*	Somatic		Capture	Illumina HiSeq	Phase_I	94378505	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734279	0.89482	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.54	5.54	0.83059	.	0.244819	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8709	0.96851	0.0:0.0:1.0:0.0	.	.	.	.	X	382	.	.	E	+	1	0	PPP1R9A	94378505	0.998000	0.40836	0.059000	0.19551	0.002000	0.02628	4.569000	0.60865	2.785000	0.95823	0.650000	0.86243	GAA		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PPP1R9A	55607	broad.mit.edu	37	7	94898682	94898682	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94898682C>A	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000289495.5_Missense_Mutation_p.P956Q|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P974Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P996Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P974Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.P974Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGAAGAACCACTGGACCCA	0.488										HNSCC(28;0.073)																											p.P996Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2987A	7						.						76.0	71.0	72.0					7																	94898682		1568	3581	5149	94736618	SO:0001627	intron_variant	55607	exon14			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+663C>A	7.37:g.94898682C>A		Somatic		Capture	Illumina HiSeq	Phase_I	94736618	NM_001166160	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	3.007	-0.204828	0.06180	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000289495;ENST00000456331	T;T;T;T	0.15256	2.47;2.47;2.44;2.47	4.27	3.36	0.38483	.	.	.	.	.	T	0.09512	0.0234	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.36286	-0.9754	9	0.12103	T	0.63	.	7.4329	0.27139	0.4711:0.3906:0.1382:0.0	.	956;996;974;974	F8W7J9;E9PDX1;D6W5R0;E9PCK6	.;.;.;.	Q	996;974;956;974	ENSP00000405514:P996Q;ENSP00000411342:P974Q;ENSP00000289495:P956Q;ENSP00000402893:P974Q	ENSP00000289495:P956Q	P	+	2	0	PPP1R9A	94736618	0.065000	0.20965	0.508000	0.27688	0.130000	0.20726	0.323000	0.19593	1.325000	0.45301	0.585000	0.79938	CCA		0.488	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PON1	5444	broad.mit.edu	37	7	94937381	94937381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94937381G>A	ENST00000222381.3	-	6	871	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PON1_ENST00000542556.1_Nonsense_Mutation_p.R214*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	214					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.R214*(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GCCACCACTCGAACTTCACTT	0.403																																					p.R214X	GBM(119;715 1622 17358 22490 33240)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C640T	7						.						142.0	119.0	127.0					7																	94937381		2203	4300	6503	94775317	SO:0001587	stop_gained	5444	exon6			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.640C>T	7.37:g.94937381G>A	ENSP00000222381:p.Arg214*	Somatic		Capture	Illumina HiSeq	Phase_I	94775317	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Nonsense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683077	0.29872	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	.	.	.	5.04	2.11	0.27256	.	0.484707	0.22200	N	0.063260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.1982	14.4383	0.67298	0.0:0.0:0.3075:0.6925	.	.	.	.	X	214	.	ENSP00000222381:R214X	R	-	1	2	PON1	94775317	0.091000	0.21658	0.011000	0.14972	0.035000	0.12851	1.733000	0.38156	0.335000	0.23614	-0.310000	0.09108	CGA		0.403	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
PON1	5444	broad.mit.edu	37	7	94944657	94944657	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:94944657C>A	ENST00000222381.3	-	4	578	c.347G>T	c.(346-348)gGg>gTg	p.G116V	PON1_ENST00000542556.1_Missense_Mutation_p.G116V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	116					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.G116V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TGTGCTAATCCCATGAGGGTT	0.318																																					p.G116V	GBM(119;715 1622 17358 22490 33240)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347T	7						.						94.0	89.0	91.0					7																	94944657		2203	4300	6503	94782593	SO:0001583	missense	5444	exon4			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.347G>T	7.37:g.94944657C>A	ENSP00000222381:p.Gly116Val	Somatic		Capture	Illumina HiSeq	Phase_I	94782593	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660632	0.88154	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.58060	0.36;0.36	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81929	-0.0708	10	0.87932	D	0	-17.4201	19.2205	0.93795	0.0:1.0:0.0:0.0	.	116;116	F5H4W9;P27169	.;PON1_HUMAN	V	116	ENSP00000222381:G116V;ENSP00000444854:G116V	ENSP00000222381:G116V	G	-	2	0	PON1	94782593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.861000	0.98227	0.650000	0.86243	GGG		0.318	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
ASB4	51666	broad.mit.edu	37	7	95165851	95165851	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:95165851G>T	ENST00000325885.5	+	4	1152	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	361					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.D361Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TATCCCCGATGATGACTTGGA	0.393																																					p.D361Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081T	7						.						137.0	110.0	119.0					7																	95165851		2203	4300	6503	95003787	SO:0001583	missense	51666	exon4			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1081G>T	7.37:g.95165851G>T	ENSP00000321388:p.Asp361Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	95003787	NM_016116	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709010	0.48517	.	.	ENSG00000005981	ENST00000325885	T	0.44083	0.93	5.05	4.1	0.47936	.	0.363606	0.30410	N	0.009693	T	0.51500	0.1678	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.64687	0.928	T	0.50857	-0.8778	10	0.54805	T	0.06	-17.3791	13.0019	0.58681	0.0:0.0:0.8391:0.1609	.	361	Q9Y574	ASB4_HUMAN	Y	361	ENSP00000321388:D361Y	ENSP00000321388:D361Y	D	+	1	0	ASB4	95003787	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.966000	0.70395	2.543000	0.85770	0.650000	0.86243	GAT		0.393	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	
DYNC1I1	1780	broad.mit.edu	37	7	95668610	95668610	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:95668610C>A	ENST00000324972.6	+	14	1630	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	DYNC1I1_ENST00000537881.1_Silent_p.V442V|DYNC1I1_ENST00000437599.1_Silent_p.V459V|DYNC1I1_ENST00000447467.2_Silent_p.V462V|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Silent_p.V462V|DYNC1I1_ENST00000359388.4_Silent_p.V442V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.V479V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTGGTGAGGTCTTTGAAGGTC	0.438																																					p.V442V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326A	7						.						154.0	151.0	152.0					7																	95668610		2203	4300	6503	95506546	SO:0001819	synonymous_variant	1780	exon13			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1437C>A	7.37:g.95668610C>A		Somatic		Capture	Illumina HiSeq	Phase_I	95506546	NM_001135557	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	CCDS5644.1																																																																																				0.438	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
SLC25A13	10165	broad.mit.edu	37	7	95813664	95813664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:95813664C>A	ENST00000265631.5	-	11	1238	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.E369*|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	368					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.E368*(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TACATGAGTTCTCCCACAAAA	0.398																																					p.E368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1102T	7						.						92.0	87.0	89.0					7																	95813664		2203	4300	6503	95651600	SO:0001587	stop_gained	10165	exon11			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1102G>T	7.37:g.95813664C>A	ENSP00000265631:p.Glu368*	Somatic		Capture	Illumina HiSeq	Phase_I	95651600	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	40	8.093046	0.98651	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-19.4567	18.1211	0.89572	0.0:1.0:0.0:0.0	.	.	.	.	X	368;369;260	.	ENSP00000265631:E368X	E	-	1	0	SLC25A13	95651600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.583000	0.87209	0.655000	0.94253	GAA		0.398	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
DLX5	1749	broad.mit.edu	37	7	96650372	96650372	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:96650372T>G	ENST00000222598.4	-	3	1019	c.546A>C	c.(544-546)aaA>aaC	p.K182N	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	182					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.K182N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAAACCAGATTTTCACCTGAG	0.577																																					p.K182N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A546C	7						.						56.0	59.0	58.0					7																	96650372		2203	4300	6503	96488308	SO:0001583	missense	1749	exon3				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.546A>C	7.37:g.96650372T>G	ENSP00000222598:p.Lys182Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96488308	NM_005221	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168604	0.38315	.	.	ENSG00000105880	ENST00000222598	D	0.96913	-4.17	5.08	3.9	0.45041	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98387	1.0561	10	0.72032	D	0.01	-6.1152	9.3184	0.37948	0.0:0.1421:0.0:0.8579	.	182	P56178	DLX5_HUMAN	N	182	ENSP00000222598:K182N	ENSP00000222598:K182N	K	-	3	2	DLX5	96488308	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	3.340000	0.52143	2.134000	0.65973	0.533000	0.62120	AAA		0.577	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
ACN9	57001	broad.mit.edu	37	7	96810357	96810357	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:96810357G>A	ENST00000432641.2	+	2	1342	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)									p.E70K(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACAGGCTAACGAAAACAGACA	0.343																																					p.E70K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G208A	7						.						78.0	77.0	78.0					7																	96810357		2203	4300	6503	96648293	SO:0001583	missense	57001	exon2			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.208G>A	7.37:g.96810357G>A	ENSP00000414066:p.Glu70Lys	Somatic		Capture	Illumina HiSeq	Phase_I	96648293	NM_020186		Missense_Mutation	SNP	ENST00000432641.2	37	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	G	5.513	0.279607	0.10458	.	.	ENSG00000196636	ENST00000432641	.	.	.	4.46	3.58	0.41010	.	0.372949	0.29080	N	0.013207	T	0.20941	0.0504	L	0.43152	1.355	0.24132	N	0.995766	P	0.42248	0.774	B	0.31869	0.137	T	0.12218	-1.0556	9	0.09590	T	0.72	-7.8348	8.3163	0.32102	0.1082:0.0:0.8918:0.0	.	70	Q9NRP4	ACN9_HUMAN	K	70	.	ENSP00000414066:E70K	E	+	1	0	ACN9	96648293	0.593000	0.26840	0.288000	0.24862	0.646000	0.38490	2.421000	0.44688	1.223000	0.43536	0.591000	0.81541	GAA		0.343	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186	
LMTK2	22853	broad.mit.edu	37	7	97770721	97770721	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:97770721A>G	ENST00000297293.5	+	3	537	c.244A>G	c.(244-246)Aat>Gat	p.N82D	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	82					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.N82D(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTTGAAGATAATTTTGATGA	0.373																																					p.N82D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A244G	7						.						109.0	110.0	110.0					7																	97770721		2203	4300	6503	97608657	SO:0001583	missense	22853	exon3			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.244A>G	7.37:g.97770721A>G	ENSP00000297293:p.Asn82Asp	Somatic		Capture	Illumina HiSeq	Phase_I	97608657	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399943	0.62177	.	.	ENSG00000164715	ENST00000297293	T	0.78246	-1.16	5.09	5.09	0.68999	.	0.101773	0.64402	N	0.000003	T	0.80696	0.4672	L	0.38175	1.15	0.39257	D	0.964148	D	0.76494	0.999	D	0.68192	0.956	T	0.82307	-0.0522	10	0.52906	T	0.07	.	10.5017	0.44810	0.8375:0.1625:0.0:0.0	.	82	Q8IWU2	LMTK2_HUMAN	D	82	ENSP00000297293:N82D	ENSP00000297293:N82D	N	+	1	0	LMTK2	97608657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.680000	0.61656	2.014000	0.59158	0.459000	0.35465	AAT		0.373	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
LMTK2	22853	broad.mit.edu	37	7	97821738	97821738	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:97821738T>G	ENST00000297293.5	+	11	2254	c.1961T>G	c.(1960-1962)tTa>tGa	p.L654*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	654					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.L654*(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATATTCGACTTAATGGAATTA	0.418																																					p.L654X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T1961G	7						.						60.0	66.0	64.0					7																	97821738		2203	4300	6503	97659674	SO:0001587	stop_gained	22853	exon11			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1961T>G	7.37:g.97821738T>G	ENSP00000297293:p.Leu654*	Somatic		Capture	Illumina HiSeq	Phase_I	97659674	NM_014916	A4D272|Q75MG7|Q9UPS3	Nonsense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	T	40	8.398376	0.98794	.	.	ENSG00000164715	ENST00000297293	.	.	.	5.91	4.76	0.60689	.	0.267510	0.32703	N	0.005743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6064	0.39637	0.0:0.1434:0.0:0.8566	.	.	.	.	X	654	.	ENSP00000297293:L654X	L	+	2	0	LMTK2	97659674	0.702000	0.27816	0.073000	0.20177	0.864000	0.49448	4.662000	0.61525	1.075000	0.40932	0.533000	0.62120	TTA		0.418	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
BAIAP2L1	55971	broad.mit.edu	37	7	97939785	97939785	+	Silent	SNP	C	C	T	rs149722932		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:97939785C>T	ENST00000005260.8	-	9	1142	c.927G>A	c.(925-927)ccG>ccA	p.P309P	RP4-607J23.2_ENST00000608882.1_RNA|RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	309					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.P309P(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGTGAATTCGGGGCAGCCG	0.398																																					p.P309P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G927A	7						.	C		0,4406		0,0,2203	70.0	73.0	72.0		927	2.9	0.1	7	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAIAP2L1	NM_018842.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		309/512	97939785	1,13005	2203	4300	6503	97777721	SO:0001819	synonymous_variant	55971	exon9			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.927G>A	7.37:g.97939785C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97777721	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	CCDS34687.1																																																																																				0.398	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
TMEM130	222865	broad.mit.edu	37	7	98457836	98457836	+	Missense_Mutation	SNP	C	C	T	rs539482079	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98457836C>T	ENST00000416379.2	-	3	521	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	TMEM130_ENST00000345589.4_Missense_Mutation_p.A71T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A173T|TMEM130_ENST00000546258.1_Missense_Mutation_p.A154T|TMEM130_ENST00000450876.1_Missense_Mutation_p.A89T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	173	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A173T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAACAAGGCGGTCTTGAGG	0.602													c|||	2	0.000399361	0.0	0.0	5008	,	,		15875	0.002		0.0	False		,,,				2504	0.0				p.A173T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	7						.						103.0	89.0	94.0					7																	98457836		2203	4300	6503	98295772	SO:0001583	missense	222865	exon3				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.517G>A	7.37:g.98457836C>T	ENSP00000413163:p.Ala173Thr	Somatic		Capture	Illumina HiSeq	Phase_I	98295772	NM_001134450	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538540	0.45176	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.27	3.36	0.38483	PKD domain (2);	0.062472	0.64402	D	0.000005	T	0.29882	0.0747	L	0.49350	1.555	0.24863	N	0.992336	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	P;P;P;P	0.60789	0.814;0.879;0.879;0.814	T	0.03957	-1.0989	10	0.59425	D	0.04	-29.7074	11.7608	0.51900	0.1781:0.8219:0.0:0.0	.	173;154;173;71	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	T	173;173;89;71;154	ENSP00000413163:A173T;ENSP00000341256:A173T;ENSP00000390200:A89T;ENSP00000330262:A71T;ENSP00000445869:A154T	ENSP00000341256:A173T	A	-	1	0	TMEM130	98295772	0.993000	0.37304	0.058000	0.19502	0.074000	0.17049	4.051000	0.57412	1.077000	0.40990	0.650000	0.86243	GCC		0.602	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
TMEM130	222865	broad.mit.edu	37	7	98460788	98460788	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98460788G>T	ENST00000416379.2	-	2	325	c.321C>A	c.(319-321)gtC>gtA	p.V107V	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000339375.4_Silent_p.V107V|TMEM130_ENST00000546258.1_Silent_p.V88V|TMEM130_ENST00000450876.1_Silent_p.V23V			Q8N3G9	TM130_HUMAN	transmembrane protein 130	107						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V107V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGACCCAGACAGAGACCG	0.627																																					p.V107V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321A	7						.						61.0	61.0	61.0					7																	98460788		2203	4300	6503	98298724	SO:0001819	synonymous_variant	222865	exon2				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.321C>A	7.37:g.98460788G>T		Somatic		Capture	Illumina HiSeq	Phase_I	98298724	NM_001134450	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.627	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
TRRAP	8295	broad.mit.edu	37	7	98586497	98586497	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98586497C>T	ENST00000359863.4	+	62	9720	c.9511C>T	c.(9511-9513)Cgg>Tgg	p.R3171W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3142W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3142W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3171	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R3171W(1)|p.R3142W(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAAGGAGCGGCAGCTGCA	0.572																																					p.R3142W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9424T	7						.						86.0	86.0	86.0					7																	98586497		2203	4300	6503	98424433	SO:0001583	missense	8295	exon61			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9511C>T	7.37:g.98586497C>T	ENSP00000352925:p.Arg3171Trp	Somatic		Capture	Illumina HiSeq	Phase_I	98424433	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944381	0.92593	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.70164	-0.46;-0.46	5.32	5.32	0.75619	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.81206	0.4774	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.984;0.987;0.987	D	0.83398	0.0021	10	0.87932	D	0	.	15.3827	0.74673	0.1397:0.8603:0.0:0.0	.	3142;2881;3171	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3171;3142;3141	ENSP00000352925:R3171W;ENSP00000347733:R3142W	ENSP00000347733:R3142W	R	+	1	2	TRRAP	98424433	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.863000	0.62983	2.489000	0.83994	0.655000	0.94253	CGG		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ARPC1A	10552	broad.mit.edu	37	7	98930984	98930984	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98930984T>C	ENST00000262942.5	+	2	132	c.8T>C	c.(7-9)cTg>cCg	p.L3P	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	3					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.L3P(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			ATAATGTCACTGCATCAGTTT	0.348																																					p.L3P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8C	7						.						167.0	160.0	163.0					7																	98930984		2203	4300	6503	98768920	SO:0001583	missense	10552	exon2			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.8T>C	7.37:g.98930984T>C	ENSP00000262942:p.Leu3Pro	Somatic		Capture	Illumina HiSeq	Phase_I	98768920	NM_006409	A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954895	0.73902	.	.	ENSG00000241685	ENST00000262942	T	0.66638	-0.22	5.9	5.9	0.94986	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.28192	0.835	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.75758	-0.3205	10	0.59425	D	0.04	.	15.9783	0.80086	0.0:0.0:0.0:1.0	.	3	Q92747	ARC1A_HUMAN	P	3	ENSP00000262942:L3P	ENSP00000262942:L3P	L	+	2	0	ARPC1A	98768920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.876000	0.69667	2.250000	0.74265	0.533000	0.62120	CTG		0.348	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409	
ZNF655	79027	broad.mit.edu	37	7	99170461	99170461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99170461G>T	ENST00000394163.2	+	3	913	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF655_ENST00000424881.1_Nonsense_Mutation_p.E279*|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Nonsense_Mutation_p.E244*|ZNF655_ENST00000493277.1_Nonsense_Mutation_p.E279*|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000419215.2_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	244					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E244*(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAAATGTAAAGAATGTGAAAA	0.368																																					p.E279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	7						.						31.0	33.0	32.0					7																	99170461		2201	4299	6500	99008397	SO:0001587	stop_gained	79027	exon4			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.730G>T	7.37:g.99170461G>T	ENSP00000377718:p.Glu244*	Somatic		Capture	Illumina HiSeq	Phase_I	99008397	NM_001083956	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Nonsense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172783	0.78452	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	.	.	.	5.34	4.45	0.53987	.	0.141909	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9549	14.4306	0.67246	0.0:0.1492:0.8508:0.0	.	.	.	.	X	244;279;279;244	.	ENSP00000252713:E244X	E	+	1	0	ZNF655	99008397	0.025000	0.19082	1.000000	0.80357	0.992000	0.81027	1.347000	0.33975	1.558000	0.49541	0.650000	0.86243	GAA		0.368	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494	
CYP3A5	1577	broad.mit.edu	37	7	99261650	99261650	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99261650T>G	ENST00000222982.4	-	8	838	c.739A>C	c.(739-741)Aat>Cat	p.N247H	CYP3A5_ENST00000343703.5_Missense_Mutation_p.N237H|CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	247					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)	p.N247H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTTAAAAAATTTATGGTATCT	0.328																																					p.N247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A739C	7						.						97.0	95.0	96.0					7																	99261650		2203	4300	6503	99099586	SO:0001583	missense	1577	exon8			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.739A>C	7.37:g.99261650T>G	ENSP00000222982:p.Asn247His	Somatic		Capture	Illumina HiSeq	Phase_I	99099586	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	9.377	1.072097	0.20147	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.69175	-0.38;-0.38	4.61	0.154	0.14901	.	0.663968	0.16078	N	0.230659	T	0.54159	0.1841	L	0.45051	1.395	0.09310	N	0.999998	B;B	0.12630	0.006;0.004	B;B	0.15484	0.008;0.013	T	0.46610	-0.9179	10	0.59425	D	0.04	.	8.0678	0.30672	0.0:0.3898:0.0:0.6102	.	237;247	F5H4S0;P20815	.;CP3A5_HUMAN	H	247;237	ENSP00000222982:N247H;ENSP00000342969:N237H	ENSP00000222982:N247H	N	-	1	0	CYP3A5	99099586	0.000000	0.05858	0.011000	0.14972	0.009000	0.06853	-0.609000	0.05635	-0.342000	0.08363	-0.408000	0.06270	AAT		0.328	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
CYP3A7	1551	broad.mit.edu	37	7	99317965	99317965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99317965C>A	ENST00000336374.2	-	4	291	c.289G>T	c.(289-291)Gaa>Taa	p.E97*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	97					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.E97*(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAATAACATTCTTTCACTAGC	0.318																																					p.E97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G289T	7						.						142.0	128.0	133.0					7																	99317965		2203	4300	6503	99155901	SO:0001587	stop_gained	1551	exon4			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.289G>T	7.37:g.99317965C>A	ENSP00000337450:p.Glu97*	Somatic		Capture	Illumina HiSeq	Phase_I	99155901	NM_000765	A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	36	5.732573	0.96856	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1434	0.72630	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000292414:E97X	E	-	1	0	CYP3A7	99155901	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.446000	0.66600	2.156000	0.67533	0.561000	0.74099	GAA		0.318	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
CYP3A7	1551	broad.mit.edu	37	7	99319950	99319950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99319950C>A	ENST00000336374.2	-	3	189	c.187G>T	c.(187-189)Gaa>Taa	p.E63*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	63					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.E63*(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTATAACATTCCATGTCAAAC	0.373																																					p.E63X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G187T	7						.						78.0	77.0	78.0					7																	99319950		2203	4300	6503	99157886	SO:0001587	stop_gained	1551	exon3			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.187G>T	7.37:g.99319950C>A	ENSP00000337450:p.Glu63*	Somatic		Capture	Illumina HiSeq	Phase_I	99157886	NM_000765	A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480354	0.26598	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.1	-5.52	0.02560	.	0.920930	0.09272	N	0.824956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	7.8737	0.29582	0.0:0.4937:0.3628:0.1435	.	.	.	.	X	63	.	ENSP00000292414:E63X	E	-	1	0	CYP3A7	99157886	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.090000	0.03372	-1.124000	0.02936	0.561000	0.74099	GAA		0.373	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
COPS6	10980	broad.mit.edu	37	7	99687348	99687348	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99687348T>C	ENST00000303904.3	+	3	350	c.313T>C	c.(313-315)Tat>Cat	p.Y105H	COPS6_ENST00000418625.1_Missense_Mutation_p.Y104H	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	105	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.Y105H(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAGGAATATTATTACACCAA	0.468																																					p.Y105H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T313C	7						.						90.0	83.0	85.0					7																	99687348		2203	4300	6503	99525284	SO:0001583	missense	10980	exon3			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.313T>C	7.37:g.99687348T>C	ENSP00000304102:p.Tyr105His	Somatic		Capture	Illumina HiSeq	Phase_I	99525284	NM_006833	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004292	0.93287	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.52295	0.67;0.67	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.62183	0.2407	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.57728	-0.7761	10	0.19590	T	0.45	-19.0562	13.8725	0.63629	0.0:0.0:0.0:1.0	.	105;105	B4DHR8;Q7L5N1	.;CSN6_HUMAN	H	105;104	ENSP00000304102:Y105H;ENSP00000400617:Y104H	ENSP00000304102:Y105H	Y	+	1	0	COPS6	99525284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	2.164000	0.68074	0.533000	0.62120	TAT		0.468	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	
GPC2	221914	broad.mit.edu	37	7	99771584	99771584	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99771584G>A	ENST00000292377.2	-	5	933	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	256					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R256C(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGATGAGACGCATCAGAGCC	0.647																																					p.R256C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C766T	7						.						65.0	71.0	69.0					7																	99771584		2203	4300	6503	99609520	SO:0001583	missense	221914	exon5			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.766C>T	7.37:g.99771584G>A	ENSP00000292377:p.Arg256Cys	Somatic		Capture	Illumina HiSeq	Phase_I	99609520	NM_152742	A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304457	0.81136	.	.	ENSG00000213420	ENST00000292377	T	0.56611	0.45	4.92	3.97	0.46021	.	0.058516	0.64402	D	0.000003	T	0.70046	0.3179	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.74256	-0.3724	10	0.87932	D	0	-22.5664	11.6738	0.51417	0.0:0.0:0.822:0.178	.	256	Q8N158	GPC2_HUMAN	C	256	ENSP00000292377:R256C	ENSP00000292377:R256C	R	-	1	0	GPC2	99609520	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.860000	0.55995	2.264000	0.75181	0.555000	0.69702	CGT		0.647	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742	
STAG3	10734	broad.mit.edu	37	7	99802999	99802999	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99802999G>A	ENST00000426455.1	+	29	3637	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.R1019H|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.R1077H|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1077					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R1077H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGGAGGCGCGTTGAAGGT	0.582																																					p.R1077H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3230A	7						.						57.0	48.0	51.0					7																	99802999		2203	4300	6503	99640935	SO:0001583	missense	10734	exon29			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3230G>A	7.37:g.99802999G>A	ENSP00000400359:p.Arg1077His	Somatic		Capture	Illumina HiSeq	Phase_I	99640935	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357334	0.41801	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.74	4.74	0.60224	.	1.107710	0.06997	N	0.822629	T	0.40694	0.1127	L	0.36672	1.1	0.80722	D	1	D;D;P	0.89917	0.99;1.0;0.813	P;P;B	0.60609	0.608;0.877;0.083	T	0.02047	-1.1223	10	0.46703	T	0.11	-4.6325	13.2615	0.60108	0.0:0.0:1.0:0.0	.	1019;1077;1077	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	H	1077;1019;740;97;1077;35	ENSP00000400359:R1077H;ENSP00000377586:R1019H;ENSP00000319318:R1077H;ENSP00000395039:R35H	ENSP00000319318:R1077H	R	+	2	0	STAG3	99640935	1.000000	0.71417	0.909000	0.35828	0.394000	0.30568	5.797000	0.69087	2.191000	0.70037	0.462000	0.41574	CGC		0.582	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
ZCWPW1	55063	broad.mit.edu	37	7	99998766	99998766	+	Silent	SNP	G	G	A	rs183111731		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:99998766G>A	ENST00000398027.2	-	18	2065	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.D435D|ZCWPW1_ENST00000324725.6_Silent_p.D435D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	606							zinc ion binding (GO:0008270)	p.D606D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGGCTTCGTCCTCAAGGG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		16743	0.0		0.001	False		,,,				2504	0.0				p.D606D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1818T	7						.						48.0	50.0	49.0					7																	99998766		1983	4167	6150	99836702	SO:0001819	synonymous_variant	55063	exon18			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1818C>T	7.37:g.99998766G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99836702	NM_017984	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	CCDS43623.1																																																																																				0.622	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
LRCH4	4034	broad.mit.edu	37	7	100175543	100175543	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100175543G>A	ENST00000310300.6	-	8	1001				LRCH4_ENST00000497245.1_Intron	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4						nervous system development (GO:0007399)	PML body (GO:0016605)		p.?(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACTGTAAAGGCAGAGGCAG	0.597																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						35.0	39.0	38.0					7																	100175543		2203	4300	6503	100013479	SO:0001627	intron_variant	4034	.			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.949-8C>T	7.37:g.100175543G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100013479	.	A4D2D5|Q8WV85|Q96ID0	Intron	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																				0.597	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	
MUC12	10071	broad.mit.edu	37	7	100610063	100610063	+	5'Flank	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:100610063A>C	ENST00000379442.3	+	0	0				MUC3A_ENST00000319509.7_Missense_Mutation_p.N850H|RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA|MUC12_ENST00000536621.1_5'Flank			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)		p.N850H(2)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CAAGGATACAAATTTCCATGT	0.547																																					.												.	.	2	Substitution - Missense(2)	large_intestine(2)	.	7						.						103.0	104.0	104.0					7																	100610063		876	1991	2867	100396783	SO:0001631	upstream_gene_variant	0	.			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042		7.37:g.100610063A>C	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	100396783	.	A6ND38|F5GWV9|Q9UKN0	IGR	SNP	ENST00000379442.3	37		.	.	.	.	.	.	.	.	.	.	a	11.21	1.570832	0.28003	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.15256	3.05;2.44	2.8	1.59	0.23543	.	.	.	.	.	T	0.13798	0.0334	L	0.41236	1.265	0.20764	N	0.999856	P	0.37330	0.59	B	0.39299	0.296	T	0.15636	-1.0430	8	0.44086	T	0.13	.	5.0683	0.14592	0.7355:0.0:0.0:0.2645	.	2515	Q02505	MUC3A_HUMAN	H	850;282	ENSP00000324834:N850H;ENSP00000406404:N282H	ENSP00000324834:N850H	N	+	1	0	MUC3A	100396783	0.000000	0.05858	0.004000	0.12327	0.046000	0.14306	0.540000	0.23191	0.459000	0.27016	0.375000	0.23000	AAT		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347234.1	XM_379904	
ATXN7L1	222255	broad.mit.edu	37	7	105517005	105517005	+	5'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:105517005C>A	ENST00000419735.3	-	0	45				ATXN7L1_ENST00000478915.1_5'Flank|ATXN7L1_ENST00000318724.4_5'UTR	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						CCGACGTCATCTTCGGAACGT	0.607																																					.												.	.	0			.	7						.						67.0	58.0	61.0					7																	105517005		2203	4300	6503	105304241	SO:0001623	5_prime_UTR_variant	222255	.			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.-1G>T	7.37:g.105517005C>A		Somatic		Capture	Illumina HiSeq	Phase_I	105304241	.	A4D0Q2|B4DTS1|Q8N2T0	5'UTR	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																				0.607	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
PRKAR2B	5577	broad.mit.edu	37	7	106791475	106791475	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:106791475A>C	ENST00000265717.4	+	7	1102					NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GGAGGTAAGTATATGTTTATG	0.264																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						55.0	56.0	56.0					7																	106791475		2203	4296	6499	106578711	SO:0001627	intron_variant	5577	.				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.843+7A>C	7.37:g.106791475A>C		Somatic		Capture	Illumina HiSeq	Phase_I	106578711	.	A4D0R9	Intron	SNP	ENST00000265717.4	37	CCDS5740.1																																																																																				0.264	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		
BCAP29	55973	broad.mit.edu	37	7	107262250	107262250	+	3'UTR	SNP	C	C	T	rs537974764		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107262250C>T	ENST00000005259.4	+	0	4507				BCAP29_ENST00000379119.2_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ctacagataccgataaaactg	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20607	0.0		0.0	False		,,,				2504	0.001				.												.	.	0			.	7						.						59.0	52.0	54.0					7																	107262250		2191	4269	6460	107049486	SO:0001624	3_prime_UTR_variant	55973	.				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.*3442C>T	7.37:g.107262250C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107049486	.	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	c	5.128	0.209311	0.09757	.	.	ENSG00000075790	ENST00000491150	.	.	.	2.21	0.113	0.14631	.	.	.	.	.	T	0.37348	0.1000	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38607	-0.9653	5	0.87932	D	0	.	4.1554	0.10258	0.0:0.5617:0.0:0.4383	.	.	.	.	L	246	.	ENSP00000419681:P246L	P	+	2	0	BCAP29	107049486	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	-0.043000	0.12043	0.037000	0.15575	-0.367000	0.07326	CCG		0.458	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844	
SLC26A4	5172	broad.mit.edu	37	7	107323891	107323891	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:107323891T>A	ENST00000265715.3	+	8	1142					NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.?(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATCTTTTGTTTTATTTCAGAC	0.343									Pendred syndrome																												.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						81.0	83.0	83.0					7																	107323891		2203	4300	6503	107111127	SO:0001627	intron_variant	5172	.	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.919-9T>A	7.37:g.107323891T>A		Somatic		Capture	Illumina HiSeq	Phase_I	107111127	.	B7Z266|O43170	Intron	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
DOCK4	9732	broad.mit.edu	37	7	111449458	111449458	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:111449458C>A	ENST00000437633.1	-	29	3263		c.e29-1		DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATCCCAGATCTAAAACAAGA	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						48.0	43.0	44.0					7																	111449458		1856	4086	5942	111236694	SO:0001630	splice_region_variant	9732	.				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3007-1G>T	7.37:g.111449458C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111236694	.	O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832859	0.71258	.	.	ENSG00000128512	ENST00000352877;ENST00000423057;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6851	0.91560	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111236694	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.043000	0.71004	2.725000	0.93324	0.557000	0.71058	.		0.363	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron
TES	26136	broad.mit.edu	37	7	115857823	115857823	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:115857823A>C	ENST00000358204.4	+	1	242				TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)						negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N2H(1)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TAGAGGATTAAATTTAGAGGT	0.318																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	7						.						124.0	131.0	129.0					7																	115857823		875	1990	2865	115645059	SO:0001627	intron_variant	26136	.			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.27+7035A>C	7.37:g.115857823A>C		Somatic		Capture	Illumina HiSeq	Phase_I	115645059	.	A4D0U6|Q9GZQ1|Q9HAJ9	Intron	SNP	ENST00000358204.4	37	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347303	0.61183	.	.	ENSG00000135269	ENST00000257721	.	.	.	4.78	1.14	0.20703	.	.	.	.	.	T	0.36303	0.0962	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36311	-0.9753	5	0.87932	D	0	.	3.5236	0.07751	0.5965:0.1997:0.2038:0.0	.	.	.	.	H	2	.	ENSP00000257721:N2H	N	+	1	0	TES	115645059	0.000000	0.05858	0.009000	0.14445	0.733000	0.41908	0.016000	0.13377	0.394000	0.25230	0.533000	0.62120	AAT		0.318	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
Unknown	0	broad.mit.edu	37	7	121080999	121080999	+	IGR	SNP	G	G	A	rs267601253		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121080999G>A								FAM3C (44611 upstream) : AC004875.1 (133723 downstream)																							GGGCCTTGTCGAAATGCCAGT	0.627																																					.												.	.	0			.	7						.	G		0,4392		0,0,2196	87.0	94.0	92.0			0.3	0.0	7		92	1,8595	1.2+/-3.3	0,1,4297	no	intergenic				0,1,6493	AA,AG,GG		0.0116,0.0,0.0077			121080999	1,12987	2196	4298	6494	120868235	SO:0001628	intergenic_variant	0	.																															7.37:g.121080999G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120868235	.		IGR	SNP		37																																																																																				0	0.627								
PTPRZ1	5803	broad.mit.edu	37	7	121644724	121644724	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:121644724C>A	ENST00000393386.2	+	11	1698				PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTATCATAGCCATTTTTATA	0.259																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						15.0	16.0	16.0					7																	121644724		2114	4168	6282	121431960	SO:0001627	intron_variant	5803	.			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1287+10C>A	7.37:g.121644724C>A		Somatic		Capture	Illumina HiSeq	Phase_I	121431960	.	A4D0W5|C9JFM0|O76043|Q9UDR6	Intron	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.259	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
POT1	25913	broad.mit.edu	37	7	124537229	124537229	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:124537229G>T	ENST00000357628.3	-	0	597				POT1_ENST00000461288.1_5'Flank|POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAAAGACATTGATTCTGTAGA	0.303																																					.	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											.	.	0			.	7						.						58.0	61.0	60.0					7																	124537229		2191	4269	6460	124324465	SO:0001623	5_prime_UTR_variant	25913	.			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.-2C>A	7.37:g.124537229G>T		Somatic		Capture	Illumina HiSeq	Phase_I	124324465	.	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	5'UTR	SNP	ENST00000357628.3	37	CCDS5793.1																																																																																				0.303	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
SND1	27044	broad.mit.edu	37	7	127721937	127721937	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:127721937C>T	ENST00000354725.3	+	18	2304				MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGGCACCAGCCAGGCATTGC	0.547																																					.												.	.	0			.	7						.						140.0	129.0	133.0					7																	127721937		1568	3582	5150	127509173	SO:0001627	intron_variant	27044	.				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2110+384C>T	7.37:g.127721937C>T		Somatic		Capture	Illumina HiSeq	Phase_I	127509173	.	Q13122|Q96AG0	RNA	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.547	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
UBE2H	7328	broad.mit.edu	37	7	129479040	129479040	+	Intron	SNP	C	C	A	rs371429216		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129479040C>A	ENST00000355621.3	-	6	821				UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H						protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					ACTACCCATCCTCTTACCTTT	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						146.0	141.0	143.0					7																	129479040		2203	4300	6503	129266276	SO:0001627	intron_variant	7328	.			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.427+6G>T	7.37:g.129479040C>A		Somatic		Capture	Illumina HiSeq	Phase_I	129266276	.	A4D1L6|C9JY93|P37286|Q7Z6F4	Intron	SNP	ENST00000355621.3	37	CCDS5814.1																																																																																				0.393	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344	
CPA2	1358	broad.mit.edu	37	7	129922035	129922035	+	Intron	SNP	A	A	G	rs186610586		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:129922035A>G	ENST00000222481.4	+	10	1127					NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)						protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCTGTAAGTATCCAATGTGC	0.443													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19916	0.0		0.0	False		,,,				2504	0.0				.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						81.0	78.0	79.0					7																	129922035		2203	4300	6503	129709271	SO:0001627	intron_variant	1358	.			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1072+7A>G	7.37:g.129922035A>G		Somatic		Capture	Illumina HiSeq	Phase_I	129709271	.	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Intron	SNP	ENST00000222481.4	37	CCDS5817.2																																																																																				0.443	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869	
MEST	4232	broad.mit.edu	37	7	130146653	130146653	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:130146653A>G	ENST00000223215.4	+	0	2465				RP11-2E11.9_ENST00000604965.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.?(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TATACCTGAGAGAAAAAAGTA	0.403																																					.	Colon(126;2182 2305 6517 35181)											.	.	1	Unknown(1)	large_intestine(1)	.	7						.						93.0	89.0	90.0					7																	130146653		1829	4087	5916	129933889	SO:0001628	intergenic_variant	26958	.				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661		7.37:g.130146653A>G		Somatic		Capture	Illumina HiSeq	Phase_I	129933889	.	B2R6S1|O14973|O15007|Q6AI49|Q92571	Intron	SNP	ENST00000223215.4	37	CCDS5822.1																																																																																				0.403	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	
PLXNA4	91584	broad.mit.edu	37	7	131817803	131817803	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:131817803C>T	ENST00000359827.3	-	31	6552				PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.?(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGGGCAAAGCTTACCTCCTC	0.527																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						96.0	99.0	98.0					7																	131817803		2151	4270	6421	131468343	SO:0001627	intron_variant	91584	.			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5589+4G>A	7.37:g.131817803C>T		Somatic		Capture	Illumina HiSeq	Phase_I	131468343	.	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Intron	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CHCHD3	54927	broad.mit.edu	37	7	132709395	132709395	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:132709395C>T	ENST00000262570.5	-	3	314				CHCHD3_ENST00000542753.1_Intron|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000448878.1_Intron	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3						inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						AAACTAGAATCGATAAAGAGC	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						86.0	87.0	87.0					7																	132709395		2203	4300	6503	132359935	SO:0001627	intron_variant	54927	.			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.170-8G>A	7.37:g.132709395C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132359935	.		Intron	SNP	ENST00000262570.5	37	CCDS5828.1																																																																																				0.393	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812	
NUP205	23165	broad.mit.edu	37	7	135307685	135307685	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:135307685C>A	ENST00000285968.6	+	31	4505					NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TAAAGCAACTCTTATTTAGTA	0.408																																					.												.	.	0			.	7						.						63.0	63.0	63.0					7																	135307685		2203	4300	6503	134958225	SO:0001627	intron_variant	23165	.			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4479+12C>A	7.37:g.135307685C>A		Somatic		Capture	Illumina HiSeq	Phase_I	134958225	.	A6H8X3|Q86YC1	Intron	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																				0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
ATP6V0A4	50617	broad.mit.edu	37	7	138394362	138394362	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138394362T>C	ENST00000310018.2	-	21	2712				ATP6V0A4_ENST00000393054.1_Intron|ATP6V0A4_ENST00000353492.4_Intron	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.?(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGACAACCATCCTTACCAGT	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						160.0	160.0	160.0					7																	138394362		2203	4300	6503	138044902	SO:0001627	intron_variant	50617	.			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2429+6A>G	7.37:g.138394362T>C		Somatic		Capture	Illumina HiSeq	Phase_I	138044902	.	A4D1R4|A8KA80|Q32M47	Intron	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																				0.537	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
ATP6V0A4	50617	broad.mit.edu	37	7	138418872	138418872	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138418872G>T	ENST00000310018.2	-	16	1974				ATP6V0A4_ENST00000393054.1_Intron|ATP6V0A4_ENST00000353492.4_Intron	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.?(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGTGCATCAAGAAACTTACAT	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						134.0	109.0	118.0					7																	138418872		2203	4300	6503	138069412	SO:0001627	intron_variant	50617	.			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1691+8C>A	7.37:g.138418872G>T		Somatic		Capture	Illumina HiSeq	Phase_I	138069412	.	A4D1R4|A8KA80|Q32M47	Intron	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																				0.443	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
UBN2	254048	broad.mit.edu	37	7	138936807	138936807	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:138936807A>G	ENST00000473989.3	+	3	663				UBN2_ENST00000288561.8_Intron	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2							extracellular space (GO:0005615)|nucleus (GO:0005634)		p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGAGGCTGTGAGTAATGTATC	0.353																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						99.0	96.0	97.0					7																	138936807		1837	4086	5923	138587347	SO:0001627	intron_variant	254048	.			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.663+4A>G	7.37:g.138936807A>G		Somatic		Capture	Illumina HiSeq	Phase_I	138587347	.	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Intron	SNP	ENST00000473989.3	37	CCDS43655.2																																																																																				0.353	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
TRBV4-2	28616	broad.mit.edu	37	7	142045388	142045388	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142045388C>T	ENST00000390392.3	+	0	137									T cell receptor beta variable 4-2																		CTCTGCTGTGCGGTTCTCTGT	0.587																																					.												.	.	0			.	7						.						119.0	148.0	138.0					7																	142045388		1992	4191	6183	141709120			0	.			U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045388C>T		Somatic		Capture	Illumina HiSeq	Phase_I	141709120	.		IGR	SNP	ENST00000390392.3	37																																																																																					0.587	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333	
NCAPG2	54892	broad.mit.edu	37	7	158468256	158468256	+	Silent	SNP	C	C	T	rs370565592	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:158468256C>T	ENST00000409423.1	-	13	1411	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	NCAPG2_ENST00000449727.2_Silent_p.P413P|NCAPG2_ENST00000409339.3_Silent_p.P413P|NCAPG2_ENST00000275830.10_Silent_p.P205P|NCAPG2_ENST00000356309.3_Silent_p.P413P	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	413					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.P413P(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGAATGGTCGGGGGCATCA	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16889	0.0		0.0	False		,,,				2504	0.0				p.P413P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1239A	7						.			2,3716		0,2,1857	66.0	63.0	64.0		1239	-10.9	0.0	7		64	1,8205		0,1,4102	no	coding-synonymous	NCAPG2	NM_017760.5		0,3,5959	TT,TC,CC		0.0122,0.0538,0.0252		413/1144	158468256	3,11921	1859	4103	5962	158161017	SO:0001819	synonymous_variant	54892	exon12			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1239G>A	7.37:g.158468256C>T		Somatic		Capture	Illumina HiSeq	Phase_I	158161017	NM_017760	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	1.626	-0.520174	0.04171	5.38E-4	1.22E-4	ENSG00000146918	ENST00000441982	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55496	-0.8132	4	.	.	.	-17.5026	3.5227	0.07748	0.1051:0.1382:0.3718:0.3849	.	.	.	.	Q	215	.	.	R	-	2	0	NCAPG2	158161017	0.000000	0.05858	0.041000	0.18516	0.182000	0.23217	-2.918000	0.00695	-4.425000	0.00050	-0.812000	0.03155	CGA		0.433	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0.0																																					.												.	.	0			.	7						.																																			141760773	SO:0001628	intergenic_variant	0	.																															Unknown.37:g.0C>A		Somatic		Capture	Illumina HiSeq	Phase_I	141760773	.		IGR	SNP		37																																																																																				0	0								
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0.0																																					.												.	.	0			.	7						.																																			141943529	SO:0001628	intergenic_variant	0	.																															Unknown.37:g.0C>A		Somatic		Capture	Illumina HiSeq	Phase_I	141943529	.		IGR	SNP		37																																																																																				0	0								
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0G>T								None (None upstream) : None (None downstream)																								0.0																																					.												.	.	0			.	7						.																																			141949296	SO:0001628	intergenic_variant	0	.																															Unknown.37:g.0G>T		Somatic		Capture	Illumina HiSeq	Phase_I	141949296	.		IGR	SNP		37																																																																																				0	0								
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																					.												.	.	0			.	7						.																																			141952432	SO:0001628	intergenic_variant	0	.																															Unknown.37:g.0G>A		Somatic		Capture	Illumina HiSeq	Phase_I	141952432	.		IGR	SNP		37																																																																																				0	0								
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																					.												.	.	0			.	7						.																																			141969917	SO:0001628	intergenic_variant	0	.																															Unknown.37:g.0T>C		Somatic		Capture	Illumina HiSeq	Phase_I	141969917	.		IGR	SNP		37																																																																																				0	0								
TRBV24-1	28563	broad.mit.edu	37	7	142364718	142364718	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142364718C>A	ENST00000390397.2	+	0	381									T cell receptor beta variable 24-1																		TTGCACAGTGCTTCTTGGCCA	0.522																																					.												.	.	0			.	7						.						75.0	69.0	71.0					7																	142364718		1935	4149	6084	142044281			0	.			M11951		7q34	2012-02-07			ENSG00000211750	ENSG00000211750		"""T cell receptors / TRB locus"""	12203	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV241, TCRBV15S1, TCRBV24S1			OTTHUMG00000158889		7.37:g.142364718C>A		Somatic		Capture	Illumina HiSeq	Phase_I	142044281	.		IGR	SNP	ENST00000390397.2	37																																																																																					0.522	TRBV24-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352499.1	NG_001333	
TRBV27	28560	broad.mit.edu	37	7	142423472	142423472	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:142423472C>A	ENST00000390399.3	+	0	171									T cell receptor beta variable 27																		GTGACTTGTTCTCAGAATATG	0.473																																					.												.	.	0			.	7						.						89.0	87.0	88.0					7																	142423472		1903	4119	6022	142103051			0	.			L36092		7q34	2012-02-07			ENSG00000211752	ENSG00000211752		"""T cell receptors / TRB locus"""	12208	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV14S1, TCRBV27S1			OTTHUMG00000158924		7.37:g.142423472C>A		Somatic		Capture	Illumina HiSeq	Phase_I	142103051	.		IGR	SNP	ENST00000390399.3	37																																																																																					0.473	TRBV27-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352544.2	NG_001333	
RBAK-RBAKDN	100533952	broad.mit.edu	37	7	5112557	5112557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:5112557C>T	ENST00000407184.1	+	8	706	c.440C>T	c.(439-441)tCg>tTg	p.S147L	RBAKDN_ENST00000498308.1_lincRNA|RBAK-RBAKDN_ENST00000396904.2_3'UTR					RBAK-RBAKDN readthrough																		CCCCAGGAGTCGGGGCTGGCG	0.657																																					.												.	.	0			.	7						.						32.0	42.0	39.0					7																	5112557		2202	4299	6501	5079083	SO:0001583	missense	389458	.				CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.440C>T	7.37:g.5112557C>T	ENSP00000385560:p.Ser147Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5079083	.		Missense_Mutation	SNP	ENST00000407184.1	37		.	.	.	.	.	.	.	.	.	.	C	11.52	1.662164	0.29515	.	.	ENSG00000146587	ENST00000407184	T	0.00873	5.59	3.3	1.04	0.20106	.	.	.	.	.	T	0.00754	0.0025	.	.	.	.	.	.	B	0.18166	0.026	B	0.10450	0.005	T	0.43065	-0.9414	7	0.42905	T	0.14	.	2.3361	0.04248	0.2382:0.4598:0.0:0.3019	.	15	A6NC62	YG007_HUMAN	L	147	ENSP00000385560:S147L	ENSP00000385560:S147L	S	+	2	0	RBAK	5079083	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	0.363000	0.20301	0.604000	0.29930	0.462000	0.41574	TCG		0.657	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000472007.1		
IGF2BP3	10643	broad.mit.edu	37	7	23383331	23383331	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23383331A>C	ENST00000258729.3	-	9	1434					NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCATAACAAAACTAACATTCA	0.318																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						132.0	120.0	124.0					7																	23383331		2203	4300	6503	23349856	SO:0001627	intron_variant	10643	.			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1077+5T>G	7.37:g.23383331A>C		Somatic		Capture	Illumina HiSeq	Phase_I	23349856	.	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Intron	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																				0.318	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
FAM221A	340277	broad.mit.edu	37	7	23737806	23737806	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23737806C>A	ENST00000344962.4	+	5	726				FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409653.1_Intron	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A									p.?(1)									GTATTGTTTTCTCAGGTGTAC	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						90.0	93.0	92.0					7																	23737806		2203	4300	6503	23704331	SO:0001627	intron_variant	340277	.				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.638-5C>A	7.37:g.23737806C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23704331	.	Q05CG4|Q4G0Q7|Q6P519	Intron	SNP	ENST00000344962.4	37	CCDS5385.1																																																																																				0.323	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136	
STK31	56164	broad.mit.edu	37	7	23810750	23810750	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23810750T>A	ENST00000355870.3	+	14	1952				STK31_ENST00000428484.1_Intron|STK31_ENST00000405627.3_Intron|STK31_ENST00000433467.2_Intron|STK31_ENST00000354639.3_Intron	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGGTTTGATTGTGCTTTCT	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						134.0	138.0	137.0					7																	23810750		2203	4299	6502	23777275	SO:0001627	intron_variant	56164	.			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1833+7T>A	7.37:g.23810750T>A		Somatic		Capture	Illumina HiSeq	Phase_I	23777275	.	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Intron	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.294	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
STK31	56164	broad.mit.edu	37	7	23827759	23827759	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:23827759A>G	ENST00000355870.3	+	21	2756				STK31_ENST00000428484.1_Intron|STK31_ENST00000405627.3_Intron|STK31_ENST00000433467.2_Intron|STK31_ENST00000354639.3_Intron	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTAAGATATCATGGTTTTACA	0.289																																					.												.	.	0			.	7						.						71.0	69.0	69.0					7																	23827759		2203	4300	6503	23794284	SO:0001627	intron_variant	56164	.			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2637+11A>G	7.37:g.23827759A>G		Somatic		Capture	Illumina HiSeq	Phase_I	23794284	.	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Intron	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
CCDC129	223075	broad.mit.edu	37	7	31594471	31594471	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:31594471G>A	ENST00000407970.3	+	4	250		c.e4-1		CCDC129_ENST00000482748.1_Splice_Site|CCDC129_ENST00000451887.2_Splice_Site|CCDC129_ENST00000409210.1_Splice_Site|CCDC129_ENST00000319386.3_Splice_Site	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129									p.?(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTCTTTACAGTGTCTCTGCA	0.333																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						58.0	52.0	54.0					7																	31594471		2202	4298	6500	31560996	SO:0001630	splice_region_variant	223075	.			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.213-1G>A	7.37:g.31594471G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31560996	.	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Splice_Site	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866896	0.32977	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1842	0.65595	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC129	31560996	0.948000	0.32251	0.910000	0.35882	0.430000	0.31655	4.192000	0.58378	2.800000	0.96347	0.650000	0.86243	.		0.333	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	Intron
DPY19L1	23333	broad.mit.edu	37	7	34987235	34987235	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:34987235G>T	ENST00000310974.4	-	15	1420					NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TTAAGTGATAGACATACCTTT	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						44.0	49.0	47.0					7																	34987235		2110	4262	6372	34953760	SO:0001627	intron_variant	23333	.			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1275+6C>A	7.37:g.34987235G>T		Somatic		Capture	Illumina HiSeq	Phase_I	34953760	.	O94954|Q4G151	Intron	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																				0.323	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
TBX20	57057	broad.mit.edu	37	7	35271108	35271108	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:35271108C>A	ENST00000408931.3	-	6	1417					NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20						aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ACAGAAAATTCTCATTACCTC	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						61.0	55.0	57.0					7																	35271108		2203	4300	6503	35237633	SO:0001627	intron_variant	57057	.			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.890+7G>T	7.37:g.35271108C>A		Somatic		Capture	Illumina HiSeq	Phase_I	35237633	.	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Intron	SNP	ENST00000408931.3	37	CCDS43568.1																																																																																				0.393	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417	
ELMO1	9844	broad.mit.edu	37	7	36934450	36934450	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:36934450G>A	ENST00000310758.4	-	17	2249				ELMO1_ENST00000396040.2_Intron|ELMO1_ENST00000341056.3_Intron|ELMO1_ENST00000396045.3_Intron|ELMO1_ENST00000448602.1_Intron|ELMO1_ENST00000442504.1_Intron	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAATACTAGGTAACTTACAA	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						87.0	82.0	84.0					7																	36934450		2203	4300	6503	36900975	SO:0001627	intron_variant	9844	.			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1601+8C>T	7.37:g.36934450G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36900975	.	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Intron	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																				0.488	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
TRGV9	6983	broad.mit.edu	37	7	38356660	38356660	+	RNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:38356660C>A	ENST00000444775.2	-	0	1692									T cell receptor gamma variable 9																		TGTCCTGTTTCTCTACATTGT	0.453																																					.												.	.	0			.	7						.						82.0	80.0	80.0					7																	38356660		1948	4146	6094	38323185			445347	.			X07205		7p14	2012-02-07			ENSG00000211695	ENSG00000211695		"""T cell receptors / TRG locus"""	12295	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V9"""			TCRGV9		2969332, 2806544	Standard	NG_001336		Approved	V2			OTTHUMG00000155218		7.37:g.38356660C>A		Somatic		Capture	Illumina HiSeq	Phase_I	38323185	.		Missense_Mutation	SNP	ENST00000444775.2	37																																																																																					0.453	TRGV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338824.3	NG_001336	
TRGV3	6976	broad.mit.edu	37	7	38398411	38398411	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:38398411G>T	ENST00000390346.2	-	0	238							P03979	TVC_HUMAN	T cell receptor gamma variable 3						immune response (GO:0006955)	plasma membrane (GO:0005886)	MHC protein binding (GO:0042287)|peptide antigen binding (GO:0042605)										CAAGTTGGAAGATTTCTGACT	0.433																																					.												.	.	0			.	7						.						92.0	88.0	89.0					7																	38398411		1894	4114	6008	38364936			0	.			M13430		7p14	2012-02-07			ENSG00000211699	ENSG00000211699		"""T cell receptors / TRG locus"""	12288	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V3"""			TCRGV3		2938743, 2969332	Standard	NG_001336		Approved	V1S3	uc003tgr.2	P03979	OTTHUMG00000155102		7.37:g.38398411G>T		Somatic		Capture	Illumina HiSeq	Phase_I	38364936	.		IGR	SNP	ENST00000390346.2	37																																																																																					0.433	TRGV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338416.3	NG_001336	
BLVRA	644	broad.mit.edu	37	7	43810777	43810777	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:43810777C>A	ENST00000402924.1	+	3	175				BLVRA_ENST00000265523.4_Intron	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A						heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GAGGTGAGTTCTTTACAAAGA	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						176.0	172.0	173.0					7																	43810777		2203	4300	6503	43777302	SO:0001627	intron_variant	644	.			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.12+8C>A	7.37:g.43810777C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43777302	.	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Intron	SNP	ENST00000402924.1	37	CCDS5472.1																																																																																				0.458	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712	
OGDH	4967	broad.mit.edu	37	7	44741131	44741131	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:44741131C>A	ENST00000222673.5	+	20	2601				OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000444676.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCCTATTGTTCTGTATTTCAG	0.498																																					.												.	.	0			.	7						.						93.0	82.0	86.0					7																	44741131		2203	4300	6503	44707656	SO:0001627	intron_variant	4967	.			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2560-11C>A	7.37:g.44741131C>A		Somatic		Capture	Illumina HiSeq	Phase_I	44707656	.	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Intron	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.498	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
TNS3	64759	broad.mit.edu	37	7	47407961	47407961	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:47407961C>T	ENST00000398879.1	-	17	2648		c.e17+1		TNS3_ENST00000355730.3_Splice_Site|TNS3_ENST00000311160.9_Splice_Site			Q68CZ2	TENS3_HUMAN	tensin 3						cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.?(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCCAGCTCACCTTGCCGCCC	0.622																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						99.0	111.0	107.0					7																	47407961		1970	4153	6123	47374486	SO:0001630	splice_region_variant	64759	.			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2281+1G>A	7.37:g.47407961C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47374486	.	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Splice_Site	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948080	0.53186	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNS3	47374486	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.559000	0.45888	2.360000	0.80028	0.655000	0.94253	.		0.622	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	Intron
PKD1L1	168507	broad.mit.edu	37	7	47874723	47874723	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:47874723G>A	ENST00000289672.2	-	38	6105					NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						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)	p.?(1)	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						AGGACAAGTCGCAGGTACCTT	0.612																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						47.0	48.0	48.0					7																	47874723		2203	4300	6503	47841248	SO:0001627	intron_variant	168507	.			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.6054+7C>T	7.37:g.47874723G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47841248	.	Q6UWK1	Intron	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.612	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ABCA13	154664	broad.mit.edu	37	7	48237964	48237964	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48237964G>T	ENST00000435803.1	+	3	311					NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCGGTAAGAGAAACACAAAG	0.393																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						63.0	57.0	59.0					7																	48237964		1849	4093	5942	48208519	SO:0001627	intron_variant	154664	.			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.287+7G>T	7.37:g.48237964G>T		Somatic		Capture	Illumina HiSeq	Phase_I	48208519	.	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Intron	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48375011	48375011	+	Intron	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48375011T>A	ENST00000435803.1	+	28	10023					NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATATGCTTCATTTTGCAGGCT	0.378																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						70.0	69.0	69.0					7																	48375011		1877	4083	5960	48345557	SO:0001627	intron_variant	154664	.			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10000-8T>A	7.37:g.48375011T>A		Somatic		Capture	Illumina HiSeq	Phase_I	48345557	.	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Intron	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48414020	48414020	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:48414020G>T	ENST00000435803.1	+	34	11227					NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAGGTAAGAGCATGCATGTG	0.398																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	7						.						84.0	77.0	79.0					7																	48414020		1893	4107	6000	48384566	SO:0001627	intron_variant	154664	.			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11203+7G>T	7.37:g.48414020G>T		Somatic		Capture	Illumina HiSeq	Phase_I	48384566	.	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Intron	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
POM121	9883	broad.mit.edu	37	7	72410515	72410515	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:72410515C>A	ENST00000434423.2	+	8	1563				POM121_ENST00000257622.4_Intron|POM121_ENST00000446813.1_Intron|POM121_ENST00000358357.3_Intron|POM121_ENST00000395270.1_Intron			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.?(1)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGGTATGGTCTTGTCCATCT	0.473																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						28.0	33.0	31.0					7																	72410515		2193	4292	6485	72048451	SO:0001627	intron_variant	9883	.			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1563+8C>A	7.37:g.72410515C>A		Somatic		Capture	Illumina HiSeq	Phase_I	72048451	.	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Intron	SNP	ENST00000434423.2	37																																																																																					0.473	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
POR	5447	broad.mit.edu	37	7	75573146	75573146	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:75573146G>T	ENST00000461988.1	+	2	101				SNORA14A_ENST00000364773.1_RNA|POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	ATGCTTCCAAGATATGAGCGA	0.413																																					.												.	.	0			.	7						.						138.0	134.0	135.0					7																	75573146		876	1991	2867	75411082	SO:0001627	intron_variant	5447	.			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.-4-10161G>T	7.37:g.75573146G>T		Somatic		Capture	Illumina HiSeq	Phase_I	75411082	.	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																				0.413	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
PDK4	5166	broad.mit.edu	37	7	95217032	95217032	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:95217032T>C	ENST00000005178.5	-	8	1068					NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4						cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AAACAGAGAATGGTTACCTTA	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						64.0	60.0	62.0					7																	95217032		2203	4300	6503	95054968	SO:0001627	intron_variant	5166	.			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.870+6A>G	7.37:g.95217032T>C		Somatic		Capture	Illumina HiSeq	Phase_I	95054968	.		Intron	SNP	ENST00000005178.5	37	CCDS5643.1																																																																																				0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	
TRRAP	8295	broad.mit.edu	37	7	98534767	98534767	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98534767C>T	ENST00000359863.4	+	29	4320				TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCTTGATTTCTCTCCCTGAA	0.383																																					.												.	.	0			.	7						.						119.0	124.0	122.0					7																	98534767		2203	4300	6503	98372703	SO:0001627	intron_variant	8295	.			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4112-12C>T	7.37:g.98534767C>T		Somatic		Capture	Illumina HiSeq	Phase_I	98372703	.	A4D265|O75218|Q9Y631|Q9Y6H4	Intron	SNP	ENST00000359863.4	37	CCDS59066.1																																																																																				0.383	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98543381	98543381	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:98543381C>T	ENST00000359863.4	+	32	4694	c.4485C>T	c.(4483-4485)tcC>tcT	p.S1495S	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1495					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.S1495S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGCATTTCCGAGTGCGGGA	0.388																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	7						.						129.0	116.0	120.0					7																	98543381		876	1991	2867	98381317	SO:0001819	synonymous_variant	8295	.			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4485C>T	7.37:g.98543381C>T		Somatic		Capture	Illumina HiSeq	Phase_I	98381317	.	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	7.784	0.710231	0.15239	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.02	0.741	0.18336	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60367	-0.7277	4	.	.	.	.	12.5166	0.56036	0.2806:0.6529:0.0665:0.0	.	.	.	.	L	1210	.	.	P	+	2	0	TRRAP	98381317	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.057000	0.30492	-0.102000	0.12197	-0.293000	0.09583	CCG		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CLCN1	1180	broad.mit.edu	37	7	143043998	143043998	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr7:143043998C>A	ENST00000343257.2	+	20	2451					NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTCTTTCTTCTCTAGGATTC	0.458																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						147.0	147.0	147.0					7																	143043998		2203	4300	6503	142754120	SO:0001627	intron_variant	1180	.			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2365-6C>A	7.37:g.143043998C>A		Somatic		Capture	Illumina HiSeq	Phase_I	142754120	.	A4D2H5|Q2M202	Intron	SNP	ENST00000343257.2	37	CCDS5881.1																																																																																				0.458	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
COL14A1	7373	broad.mit.edu	37	8	121295980	121295981	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:121295980_121295981insA	ENST00000297848.3	+	32	4200_4201	c.3930_3931insA	c.(3931-3933)aaafs	p.K1311fs	COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.K1311fs|COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.K1216fs	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.N1312fs*3(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATTTTAAATAAAAATTCTGA	0.391																																					p.N1310fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3930_3931insA	8						.																																			121365162	SO:0001589	frameshift_variant	7373	exon32				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3935dupA	8.37:g.121295985_121295985dupA	ENSP00000297848:p.Lys1311fs	Somatic		Capture	Illumina HiSeq	Phase_I	121365161	NM_021110		Frame_Shift_Ins	INS	ENST00000297848.3	37	CCDS34938.1																																																																																				0.391	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
VPS13B	157680	broad.mit.edu	37	8	100115205	100115205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:100115205G>A	ENST00000358544.2	+	5	548	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	VPS13B_ENST00000355155.1_Missense_Mutation_p.R146Q|VPS13B_ENST00000441350.2_Missense_Mutation_p.R146Q|VPS13B_ENST00000395996.1_Missense_Mutation_p.R146Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R146Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	146					protein transport (GO:0015031)			p.R146Q(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGATTAGACGAGTTGTAAAT	0.274																																					p.R146Q	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G437A	8						.						82.0	84.0	83.0					8																	100115205		2203	4298	6501	100184381	SO:0001583	missense	157680	exon5			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.437G>A	8.37:g.100115205G>A	ENSP00000351346:p.Arg146Gln	Somatic		Capture	Illumina HiSeq	Phase_I	100184381	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796268	0.90453	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.82984	-1.11;-0.41;-0.41;-0.12;-1.67	5.94	5.07	0.68467	.	0.000000	0.64402	D	0.000002	D	0.89677	0.6784	M	0.66939	2.045	0.47862	D	0.999538	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.99;0.992;0.992;0.989;0.962	D	0.89949	0.4078	10	0.51188	T	0.08	.	15.1108	0.72355	0.0676:0.0:0.9324:0.0	.	146;146;146;146;146	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Q	146	ENSP00000347281:R146Q;ENSP00000349685:R146Q;ENSP00000351346:R146Q;ENSP00000379318:R146Q;ENSP00000398472:R146Q	ENSP00000347281:R146Q	R	+	2	0	VPS13B	100184381	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.086000	0.94088	1.524000	0.49035	-0.259000	0.10710	CGA		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100789103	100789103	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:100789103T>G	ENST00000358544.2	+	41	7534	c.7423T>G	c.(7423-7425)Ttt>Gtt	p.F2475V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.F2450V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2475					protein transport (GO:0015031)			p.F2475V(1)|p.F2450V(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACCCCATGGTTTGTCCCATC	0.478																																					p.F2450V	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7348G	8						.						275.0	216.0	236.0					8																	100789103		2203	4300	6503	100858279	SO:0001583	missense	157680	exon41			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7423T>G	8.37:g.100789103T>G	ENSP00000351346:p.Phe2475Val	Somatic		Capture	Illumina HiSeq	Phase_I	100858279	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826342	0.90955	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.41;-0.41	5.52	5.52	0.82312	.	0.110954	0.64402	D	0.000008	T	0.62478	0.2431	L	0.47716	1.5	0.80722	D	1	P;P	0.42296	0.775;0.483	B;B	0.39660	0.306;0.122	T	0.67417	-0.5676	10	0.62326	D	0.03	.	15.6453	0.77042	0.0:0.0:0.0:1.0	.	2450;2475	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	2450;2475	ENSP00000349685:F2450V;ENSP00000351346:F2475V	ENSP00000349685:F2450V	F	+	1	0	VPS13B	100858279	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.027000	0.88791	2.088000	0.63022	0.528000	0.53228	TTT		0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
RGS22	26166	broad.mit.edu	37	8	101016258	101016258	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101016258C>A	ENST00000360863.6	-	17	2717	c.2523G>T	c.(2521-2523)tgG>tgT	p.W841C	RGS22_ENST00000523437.1_Missense_Mutation_p.W829C|RGS22_ENST00000523287.1_Missense_Mutation_p.W660C|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	841					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.W841C(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAACATTATCCCAATATTCTG	0.358																																					p.W841C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2523T	8						.						138.0	126.0	130.0					8																	101016258		1853	4091	5944	101085434	SO:0001583	missense	26166	exon17			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2523G>T	8.37:g.101016258C>A	ENSP00000354109:p.Trp841Cys	Somatic		Capture	Illumina HiSeq	Phase_I	101085434	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230217	0.58777	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.53640	0.8;0.77;0.79;0.61	5.49	5.49	0.81192	Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.956;0.956;0.994	T	0.69741	-0.5063	10	0.62326	D	0.03	.	17.943	0.89031	0.0:1.0:0.0:0.0	.	829;841;660	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	C	841;829;660;829;156	ENSP00000354109:W841C;ENSP00000429382:W660C;ENSP00000428212:W829C;ENSP00000427754:W156C	ENSP00000354109:W841C	W	-	3	0	RGS22	101085434	0.993000	0.37304	0.997000	0.53966	0.579000	0.36224	3.205000	0.51090	2.571000	0.86741	0.655000	0.94253	TGG		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101065033	101065033	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101065033G>A	ENST00000360863.6	-	10	1880	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	RGS22_ENST00000523437.1_Silent_p.I550I|RGS22_ENST00000523287.1_Silent_p.I381I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	562					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.I562I(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACCCTACCTGGATCTCAGGTA	0.398																																					p.I562I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1686T	8						.						142.0	141.0	141.0					8																	101065033		1885	4111	5996	101134209	SO:0001819	synonymous_variant	26166	exon10			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1686C>T	8.37:g.101065033G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101134209	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	CCDS43758.1																																																																																				0.398	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
FBXO43	286151	broad.mit.edu	37	8	101154380	101154380	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101154380C>A	ENST00000428847.2	-	2	418	c.102G>T	c.(100-102)aaG>aaT	p.K34N		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	34					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K34N(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTGCGACATCTTCAAAATCT	0.418																																					p.K34N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G102T	8						.						76.0	80.0	79.0					8																	101154380		1991	4179	6170	101223556	SO:0001583	missense	286151	exon2			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.102G>T	8.37:g.101154380C>A	ENSP00000403293:p.Lys34Asn	Somatic		Capture	Illumina HiSeq	Phase_I	101223556	NM_001029860		Missense_Mutation	SNP	ENST00000428847.2	37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587947	0.46110	.	.	ENSG00000156509	ENST00000428847	T	0.35973	1.28	5.26	4.38	0.52667	.	.	.	.	.	T	0.29588	0.0738	N	0.22421	0.69	0.28693	N	0.90451	B	0.24882	0.113	B	0.23419	0.046	T	0.24835	-1.0149	9	0.59425	D	0.04	.	16.2227	0.82267	0.0:0.8668:0.1332:0.0	.	34	Q4G163	FBX43_HUMAN	N	34	ENSP00000403293:K34N	ENSP00000403293:K34N	K	-	3	2	FBXO43	101223556	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.728000	0.54991	1.333000	0.45449	0.563000	0.77884	AAG		0.418	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
SPAG1	6674	broad.mit.edu	37	8	101237510	101237510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101237510G>T	ENST00000388798.2	+	14	1989	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Nonsense_Mutation_p.E600*	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	600					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.E600*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCCGGCAAAAGAGATGATCTC	0.522																																					p.E600X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1798T	8						.						56.0	52.0	54.0					8																	101237510		2203	4300	6503	101306686	SO:0001587	stop_gained	6674	exon14			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1798G>T	8.37:g.101237510G>T	ENSP00000373450:p.Glu600*	Somatic		Capture	Illumina HiSeq	Phase_I	101306686	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Nonsense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692821	0.96793	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	.	.	.	5.17	2.28	0.28536	.	3.505580	0.00424	N	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-6.8196	6.0075	0.19554	0.1662:0.2908:0.543:0.0	.	.	.	.	X	600	.	ENSP00000251809:E600X	E	+	1	0	SPAG1	101306686	0.957000	0.32711	0.026000	0.17262	0.029000	0.11900	1.350000	0.34010	0.362000	0.24319	0.650000	0.86243	GAG		0.522	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
SNX31	169166	broad.mit.edu	37	8	101624288	101624288	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101624288A>G	ENST00000311812.2	-	7	701	c.551T>C	c.(550-552)cTc>cCc	p.L184P	SNX31_ENST00000428383.2_Missense_Mutation_p.L85P	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	184					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.L184P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AACATAAGGGAGTTCAAAGTC	0.423																																					p.L184P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T551C	8						.						86.0	86.0	86.0					8																	101624288		2203	4300	6503	101693464	SO:0001583	missense	169166	exon7				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.551T>C	8.37:g.101624288A>G	ENSP00000312368:p.Leu184Pro	Somatic		Capture	Illumina HiSeq	Phase_I	101693464	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968252	0.74131	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.05;1.71;0.79	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000055	T	0.69305	0.3096	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.951;0.998	T	0.72871	-0.4161	10	0.59425	D	0.04	-11.788	12.77	0.57415	1.0:0.0:0.0:0.0	.	85;184	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	P	184;85;118	ENSP00000312368:L184P;ENSP00000405024:L85P;ENSP00000428210:L118P	ENSP00000312368:L184P	L	-	2	0	SNX31	101693464	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.703000	0.61824	2.277000	0.76020	0.528000	0.53228	CTC		0.423	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
SNX31	169166	broad.mit.edu	37	8	101625250	101625250	+	Missense_Mutation	SNP	G	G	A	rs146603887	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101625250G>A	ENST00000311812.2	-	6	646	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	SNX31_ENST00000428383.2_Missense_Mutation_p.R67W	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	166					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.R166W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTGCCAAACCGAATGAGAAAG	0.493													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.0				p.R166W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	8						.	G	TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	137.0	137.0	137.0		496	4.8	0.5	8	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNX31	NM_152628.3	101	0,11,6492	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging	166/441	101625250	11,12995	2203	4300	6503	101694426	SO:0001583	missense	169166	exon6				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.496C>T	8.37:g.101625250G>A	ENSP00000312368:p.Arg166Trp	Somatic		Capture	Illumina HiSeq	Phase_I	101694426	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	22.1	4.245790	0.80024	0.00227	1.16E-4	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.48201	2.14;1.79;0.82	4.84	4.84	0.62591	.	0.681226	0.12641	N	0.451314	T	0.54271	0.1848	L	0.60455	1.87	0.28432	N	0.917221	D;D	0.67145	0.996;0.996	P;P	0.49502	0.613;0.549	T	0.53995	-0.8359	10	0.72032	D	0.01	-0.0691	13.8054	0.63227	0.0:0.0:1.0:0.0	.	67;166	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	W	166;67;100	ENSP00000312368:R166W;ENSP00000405024:R67W;ENSP00000428210:R100W	ENSP00000312368:R166W	R	-	1	2	SNX31	101694426	0.946000	0.32159	0.545000	0.28153	0.996000	0.88848	2.437000	0.44828	2.389000	0.81357	0.591000	0.81541	CGG		0.493	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
PABPC1	26986	broad.mit.edu	37	8	101721897	101721897	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:101721897T>G	ENST00000318607.5	-	8	2163	c.1035A>C	c.(1033-1035)gaA>gaC	p.E345D	PABPC1_ENST00000519004.1_Missense_Mutation_p.E300D|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.E313D|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	345	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.E345D(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTTTAGTGGCTTCTTCTGGGG	0.423																																					p.E345D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1035C	8						.						75.0	71.0	72.0					8																	101721897		2203	4297	6500	101791073	SO:0001583	missense	26986	exon8			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1035A>C	8.37:g.101721897T>G	ENSP00000313007:p.Glu345Asp	Somatic		Capture	Illumina HiSeq	Phase_I	101791073	NM_002568	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.3|20.3|20.3	3.965490|3.965490|3.965490	0.74131|0.74131|0.74131	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596	T;T;T|.|.	0.13778|.|.	2.56;2.56;2.56|.|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000008|.|.	T|T|T	0.39989|0.39989|0.39989	0.1099|0.1099|0.1099	N|N|N	0.17278|0.17278|0.17278	0.47|0.47|0.47	0.47009|0.47009|0.47009	D|D|D	0.99928|0.99928|0.99928	P;P;P|.|.	0.50943|.|.	0.94;0.898;0.898|.|.	P;P;P|.|.	0.56088|.|.	0.766;0.791;0.791|.|.	T|T|T	0.24835|0.24835|0.24835	-1.0149|-1.0149|-1.0149	10|5|5	0.51188|.|.	T|.|.	0.08|.|.	.|.|.	9.4176|9.4176|9.4176	0.38530|0.38530|0.38530	0.0:0.0801:0.0:0.9199|0.0:0.0801:0.0:0.9199|0.0:0.0801:0.0:0.9199	.|.|.	313;345;345|.|.	E7ERJ7;B3KT93;P11940|.|.	.;.;PABP1_HUMAN|.|.	D|T|R	345;345;300;313|214|178	ENSP00000313007:E345D;ENSP00000429594:E300D;ENSP00000429395:E313D|.|.	ENSP00000313007:E345D|.|.	E|K|S	-|-|-	3|2|1	2|0|0	PABPC1|PABPC1|PABPC1	101791073|101791073|101791073	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	3.110000|3.110000|3.110000	0.50352|0.50352|0.50352	1.965000|1.965000|1.965000	0.57142|0.57142|0.57142	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGC		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
UBR5	51366	broad.mit.edu	37	8	103372360	103372360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:103372360C>T	ENST00000520539.1	-	5	931	c.325G>A	c.(325-327)Gac>Aac	p.D109N	UBR5_ENST00000521922.1_Missense_Mutation_p.D109N|UBR5_ENST00000220959.4_Missense_Mutation_p.D109N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	109					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.D109N(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATGGAGAGTCGCTTGTCCTA	0.512																																					p.D109N	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325A	8						.						126.0	111.0	116.0					8																	103372360		2203	4300	6503	103441536	SO:0001583	missense	51366	exon5			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.325G>A	8.37:g.103372360C>T	ENSP00000429084:p.Asp109Asn	Somatic		Capture	Illumina HiSeq	Phase_I	103441536	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867512	0.72065	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.42131	0.98;0.98;0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.59825	0.864;0.864	T	0.26677	-1.0096	10	0.18710	T	0.47	.	19.0961	0.93251	0.0:1.0:0.0:0.0	.	109;109	E7EMW7;O95071	.;UBR5_HUMAN	N	109	ENSP00000429084:D109N;ENSP00000220959:D109N;ENSP00000427819:D109N	ENSP00000220959:D109N	D	-	1	0	UBR5	103441536	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	7.471000	0.80985	2.520000	0.84964	0.544000	0.68410	GAC		0.512	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
FZD6	8323	broad.mit.edu	37	8	104342227	104342227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104342227C>T	ENST00000358755.4	+	6	2203	c.1886C>T	c.(1885-1887)tCt>tTt	p.S629F	FZD6_ENST00000523739.1_Missense_Mutation_p.S597F|FZD6_ENST00000540287.1_Missense_Mutation_p.S324F|FZD6_ENST00000522566.1_Missense_Mutation_p.S629F	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	629					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S629F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCCAGACTCTCTGGGGAACAG	0.522																																					p.S597F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1790T	8						.						84.0	76.0	79.0					8																	104342227		2203	4300	6503	104411403	SO:0001583	missense	8323	exon7			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1886C>T	8.37:g.104342227C>T	ENSP00000351605:p.Ser629Phe	Somatic		Capture	Illumina HiSeq	Phase_I	104411403	NM_001164616	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742290	0.15642	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.77098	-1.04;-1.04;-1.07;-1.01	5.72	1.91	0.25777	.	3.091580	0.00531	N	0.000206	T	0.68732	0.3033	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32526	0.024;0.374;0.08	B;B;B	0.31547	0.037;0.132;0.081	T	0.58885	-0.7557	10	0.72032	D	0.01	.	8.9519	0.35794	0.0:0.3743:0.4766:0.1491	.	574;324;629	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	F	629;629;597;324;574	ENSP00000429055:S629F;ENSP00000351605:S629F;ENSP00000429528:S597F;ENSP00000443757:S324F	ENSP00000351605:S629F	S	+	2	0	FZD6	104411403	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.604000	0.24164	0.142000	0.18901	-0.140000	0.14226	TCT		0.522	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
CTHRC1	115908	broad.mit.edu	37	8	104390459	104390459	+	Missense_Mutation	SNP	C	C	T	rs141428810		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104390459C>T	ENST00000330295.5	+	3	719	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CTHRC1_ENST00000520337.1_Missense_Mutation_p.R179C|CTHRC1_ENST00000520880.1_Missense_Mutation_p.R63C	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	193					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.R193C(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TAATATTCATCGCACTTCTTC	0.378																																					p.R193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	8						.	C	CYS/ARG	0,4406		0,0,2203	59.0	59.0	59.0		577	5.4	1.0	8	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTHRC1	NM_138455.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	193/244	104390459	1,13005	2203	4300	6503	104459635	SO:0001583	missense	115908	exon3			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.577C>T	8.37:g.104390459C>T	ENSP00000330523:p.Arg193Cys	Somatic		Capture	Illumina HiSeq	Phase_I	104459635	NM_138455	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585807	0.66105	0.0	1.16E-4	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.72615	-0.67;0.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86523	0.1817	10	0.87932	D	0	0.3195	15.6749	0.77307	0.1375:0.8625:0.0:0.0	.	193	Q96CG8	CTHR1_HUMAN	C	193;179;179;63	ENSP00000330523:R193C;ENSP00000430550:R179C	ENSP00000297577:R179C	R	+	1	0	CTHRC1	104459635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.995000	0.49441	2.571000	0.86741	0.650000	0.86243	CGC		0.378	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
DCAF13	25879	broad.mit.edu	37	8	104453713	104453713	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104453713T>C	ENST00000297579.5	+	10	1850	c.1573T>C	c.(1573-1575)Tat>Cat	p.Y525H		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	373					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.Y525H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGCCAAGGATTATAACCAGAA	0.338																																					p.Y525H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1573C	8						.						90.0	85.0	87.0					8																	104453713		2203	4300	6503	104522889	SO:0001583	missense	25879	exon10			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1573T>C	8.37:g.104453713T>C	ENSP00000297579:p.Tyr525His	Somatic		Capture	Illumina HiSeq	Phase_I	104522889	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468888	0.84533	.	.	ENSG00000164934	ENST00000297579	T	0.76060	-0.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.94222	3.51	0.80722	D	1	.	.	.	.	.	.	D	0.91972	0.5587	8	0.87932	D	0	-20.5432	13.9118	0.63871	0.0:0.0:0.0:1.0	.	.	.	.	H	525	ENSP00000297579:Y525H	ENSP00000297579:Y525H	Y	+	1	0	DCAF13	104522889	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.907000	0.69908	2.011000	0.59026	0.460000	0.39030	TAT		0.338	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
RIMS2	9699	broad.mit.edu	37	8	104778497	104778497	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104778497C>A	ENST00000406091.3	+	3	430	c.430C>A	c.(430-432)Ctc>Atc	p.L144I		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	175	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L180I(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAAGAAATCCTCACTAAATC	0.383										HNSCC(12;0.0054)																											p.L144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430A	8						.						80.0	75.0	77.0					8																	104778497		1862	4098	5960	104847673	SO:0001583	missense	9699	exon3			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.430C>A	8.37:g.104778497C>A	ENSP00000384892:p.Leu144Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104847673	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665336	0.88251	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.76448	-1.02;-1.02	5.3	5.3	0.74995	.	.	.	.	.	D	0.86843	0.6030	M	0.86953	2.85	0.80722	D	1	D	0.53619	0.961	P	0.52066	0.689	D	0.89148	0.3521	9	0.72032	D	0.01	.	19.3034	0.94151	0.0:1.0:0.0:0.0	.	144	F8WD47	.	I	144;175;144;175	ENSP00000427018:L144I;ENSP00000384892:L144I	ENSP00000332184:L175I	L	+	1	0	RIMS2	104847673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.640000	0.89533	0.561000	0.74099	CTC		0.383	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	
RIMS2	9699	broad.mit.edu	37	8	104973300	104973300	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104973300G>T	ENST00000436393.2	+	13	2284	c.2043G>T	c.(2041-2043)aaG>aaT	p.K681N	RIMS2_ENST00000406091.3_Missense_Mutation_p.K903N|RIMS2_ENST00000507740.1_Missense_Mutation_p.K695N|RIMS2_ENST00000262231.10_Missense_Mutation_p.K742N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	965	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.K970N(1)|p.K695N(1)|p.K681N(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGGGTCAAAGAGAATAAGTG	0.294										HNSCC(12;0.0054)																											p.K903N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2709T	8						.						93.0	101.0	98.0					8																	104973300		1799	4060	5859	105042476	SO:0001583	missense	9699	exon15			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2043G>T	8.37:g.104973300G>T	ENSP00000390665:p.Lys681Asn	Somatic		Capture	Illumina HiSeq	Phase_I	105042476	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238360	0.58886	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18338	2.22;2.71;2.39;2.4;2.31;2.71	6.08	1.54	0.23209	.	.	.	.	.	T	0.14830	0.0358	L	0.36672	1.1	0.80722	D	1	P;B;P;P;P;B	0.46859	0.885;0.209;0.773;0.877;0.659;0.356	B;B;P;P;B;B	0.46389	0.277;0.236;0.515;0.467;0.387;0.196	T	0.06356	-1.0831	9	0.62326	D	0.03	.	4.4126	0.11441	0.3842:0.0:0.4683:0.1475	.	965;965;681;742;695;903	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	N	903;918;903;965;742;695;695;681	ENSP00000427018:K903N;ENSP00000384892:K903N;ENSP00000262231:K742N;ENSP00000423559:K695N;ENSP00000386228:K695N;ENSP00000390665:K681N	ENSP00000262231:K742N	K	+	3	2	RIMS2	105042476	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.649000	0.24843	0.064000	0.16427	0.591000	0.81541	AAG		0.294	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DCSTAMP	81501	broad.mit.edu	37	8	105361114	105361114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:105361114G>T	ENST00000297581.2	+	2	383	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.E112*	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	112					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.E112*(1)									GGGACACGTAGAAAATATTTT	0.398																																					p.E112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G334T	8						.						61.0	63.0	63.0					8																	105361114		2203	4300	6503	105430290	SO:0001587	stop_gained	81501	exon2			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.334G>T	8.37:g.105361114G>T	ENSP00000297581:p.Glu112*	Somatic		Capture	Illumina HiSeq	Phase_I	105430290	NM_030788	B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750411	0.89753	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.84	3.7	0.42460	.	0.475036	0.26453	N	0.024289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0943	9.3236	0.37980	0.088:0.3777:0.5343:0.0	.	.	.	.	X	112	.	.	E	+	1	0	TM7SF4	105430290	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	1.529000	0.35996	1.455000	0.47813	0.655000	0.94253	GAA		0.398	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
SOX7	83595	broad.mit.edu	37	8	10584122	10584122	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:10584122G>A	ENST00000304501.1	-	2	371	c.293C>T	c.(292-294)gCg>gTg	p.A98V	CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Missense_Mutation_p.A150V|SOX7_ENST00000554914.1_Missense_Mutation_p.A150V	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	98					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A98V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CAGCCGCTCCGCCTCGTCCAC	0.657																																					p.A98V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	8						.						45.0	48.0	47.0					8																	10584122		2203	4300	6503	10621532	SO:0001583	missense	83595	exon2			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.293C>T	8.37:g.10584122G>A	ENSP00000301921:p.Ala98Val	Somatic		Capture	Illumina HiSeq	Phase_I	10621532	NM_031439	B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159174	0.94686	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.98732	-3.82;-5.1;-5.1	4.85	4.85	0.62838	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98438	1.0585	10	0.56958	D	0.05	.	17.137	0.86743	0.0:0.0:1.0:0.0	.	150;98	B4DKV0;Q9BT81	.;SOX7_HUMAN	V	98;150;150	ENSP00000301921:A98V;ENSP00000452017:A150V;ENSP00000451145:A150V	ENSP00000346908:A150V	A	-	2	0	SOX7;CTD-2135J3.4	10621532	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	9.633000	0.98432	2.518000	0.84900	0.561000	0.74099	GCG		0.657	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1		
PINX1	54984	broad.mit.edu	37	8	10622964	10622964	+	Missense_Mutation	SNP	C	C	T	rs372632631		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:10622964C>T	ENST00000314787.3	-	7	1053	c.934G>A	c.(934-936)Gct>Act	p.A312T	PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000519088.1_3'UTR	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	312	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.A312T(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCTAGTGTAGCGTCCTCTGCT	0.522																																					p.A312T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	8						.	C	THR/ALA	0,3740		0,0,1870	53.0	50.0	51.0		934	-11.6	0.0	8		51	1,8207		0,1,4103	no	missense	PINX1	NM_017884.4	58	0,1,5973	TT,TC,CC		0.0122,0.0,0.0084		312/329	10622964	1,11947	1870	4104	5974	10660374	SO:0001583	missense	54984	exon7			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.934G>A	8.37:g.10622964C>T	ENSP00000318966:p.Ala312Thr	Somatic		Capture	Illumina HiSeq	Phase_I	10660374	NM_017884	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024498	0.19433	0.0	1.22E-4	ENSG00000254093	ENST00000314787	T	0.12879	2.64	5.8	-11.6	0.00059	.	2.567430	0.01119	N	0.005754	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.24657	-1.0154	10	0.15952	T	0.53	.	3.1476	0.06477	0.1339:0.1604:0.3534:0.3523	.	312	Q96BK5	PINX1_HUMAN	T	312	ENSP00000318966:A312T	ENSP00000318966:A312T	A	-	1	0	PINX1	10660374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.285000	0.00526	-2.905000	0.00310	-0.793000	0.03317	GCT		0.522	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884	
DCSTAMP	81501	broad.mit.edu	37	8	105368360	105368360	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:105368360C>A	ENST00000297581.2	+	4	1396	c.1347C>A	c.(1345-1347)ttC>ttA	p.F449L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S279Y|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	449					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.F449L(1)									AGATTCATTTCTGGCTTCCAG	0.433																																					p.F449L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1347A	8						.						88.0	91.0	90.0					8																	105368360		2203	4300	6503	105437536	SO:0001583	missense	81501	exon4			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1347C>A	8.37:g.105368360C>A	ENSP00000297581:p.Phe449Leu	Somatic		Capture	Illumina HiSeq	Phase_I	105437536	NM_030788	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.108326|3.108326	0.56291|0.56291	.|.	.|.	ENSG00000164935|ENSG00000164935	ENST00000297581|ENST00000517991	T|T	0.55234|0.31769	0.53|1.48	4.65|4.65	2.56|2.56	0.30785|0.30785	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39733|0.39733	0.1089|0.1089	M|M	0.69823|0.69823	2.125|2.125	0.22858|0.22858	N|N	0.998643|0.998643	P|.	0.52316|.	0.952|.	P|.	0.46796|.	0.527|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|7	0.72032|0.72032	D|D	0.01|0.01	-16.3208|-16.3208	7.1248|7.1248	0.25465|0.25465	0.0:0.7501:0.0:0.2499|0.0:0.7501:0.0:0.2499	.|.	449|.	Q9H295|.	TM7S4_HUMAN|.	L|Y	449|279	ENSP00000297581:F449L|ENSP00000428869:S279Y	ENSP00000297581:F449L|ENSP00000428869:S279Y	F|S	+|+	3|2	2|0	TM7SF4|TM7SF4	105437536|105437536	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	0.789000|0.789000	0.26886|0.26886	0.512000|0.512000	0.28257|0.28257	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.433	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
ZFPM2	23414	broad.mit.edu	37	8	106813645	106813645	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:106813645T>G	ENST00000407775.2	+	8	1585	c.1335T>G	c.(1333-1335)acT>acG	p.T445T	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T313T|ZFPM2_ENST00000378472.4_Silent_p.T176T|ZFPM2_ENST00000520492.1_Silent_p.T313T|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	445					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T445T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAAAGACTCAGCTCTTTC	0.453																																					p.T445T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1335G	8						.						62.0	66.0	65.0					8																	106813645		1916	4134	6050	106882821	SO:0001819	synonymous_variant	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1335T>G	8.37:g.106813645T>G		Somatic		Capture	Illumina HiSeq	Phase_I	106882821	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
ZFPM2	23414	broad.mit.edu	37	8	106814998	106814998	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:106814998G>A	ENST00000407775.2	+	8	2938	c.2688G>A	c.(2686-2688)ccG>ccA	p.P896P	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.P764P|ZFPM2_ENST00000378472.4_Silent_p.P627P|ZFPM2_ENST00000520492.1_Silent_p.P764P|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	896					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P896P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGTGTTTCCGAATCCAGAAA	0.453																																					p.P896P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2688A	8						.						47.0	46.0	46.0					8																	106814998		1942	4139	6081	106884174	SO:0001819	synonymous_variant	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2688G>A	8.37:g.106814998G>A		Somatic		Capture	Illumina HiSeq	Phase_I	106884174	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
XKR6	286046	broad.mit.edu	37	8	10755924	10755924	+	Silent	SNP	G	G	A	rs372480144		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:10755924G>A	ENST00000416569.2	-	3	1490	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	XKR6_ENST00000304437.2_Silent_p.I209I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	488						integral component of membrane (GO:0016021)		p.I488I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCATCATTGCGATCCCAGCCA	0.527																																					p.I488I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464T	8						.						94.0	83.0	87.0					8																	10755924		2203	4300	6503	10793334	SO:0001819	synonymous_variant	286046	exon3			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1464C>T	8.37:g.10755924G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10793334	NM_173683	Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	2.785	-0.252554	0.05829	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	-9.07	0.00724	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.44620	-0.9316	4	.	.	.	-4.7113	4.0594	0.09831	0.5854:0.1623:0.1401:0.1122	.	.	.	.	L	265	.	.	S	-	2	0	XKR6	10793334	0.223000	0.23663	0.169000	0.22859	0.896000	0.52359	-0.322000	0.08007	-1.328000	0.02261	-0.224000	0.12420	TCG		0.527	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
XKR6	286046	broad.mit.edu	37	8	10756224	10756224	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:10756224G>T	ENST00000416569.2	-	3	1190	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	XKR6_ENST00000304437.2_Silent_p.I109I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	388						integral component of membrane (GO:0016021)		p.I388I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCACCACGAAGATCCCAAAAT	0.537																																					p.I388I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164A	8						.						98.0	92.0	94.0					8																	10756224		2203	4300	6503	10793634	SO:0001819	synonymous_variant	286046	exon3			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1164C>A	8.37:g.10756224G>T		Somatic		Capture	Illumina HiSeq	Phase_I	10793634	NM_173683	Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	4.668	0.124187	0.08931	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.73853	0.3640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72988	-0.4124	4	.	.	.	-0.8451	17.7836	0.88531	0.0:0.0:1.0:0.0	.	.	.	.	Y	165	.	.	S	-	2	0	XKR6	10793634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.609000	0.67661	2.425000	0.82216	0.561000	0.74099	TCT		0.537	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
ZFPM2	23414	broad.mit.edu	37	8	106815063	106815063	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:106815063A>T	ENST00000407775.2	+	8	3003	c.2753A>T	c.(2752-2754)aAa>aTa	p.K918I	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.K786I|ZFPM2_ENST00000378472.4_Missense_Mutation_p.K649I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.K786I|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	918					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K918I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAATGTGAGAAAAATGGGAAT	0.458																																					p.K918I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2753T	8						.						40.0	39.0	39.0					8																	106815063		1886	4115	6001	106884239	SO:0001583	missense	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2753A>T	8.37:g.106815063A>T	ENSP00000384179:p.Lys918Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106884239	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.423900	0.62733	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25250	1.81;2.3;2.3;3.51	5.76	5.76	0.90799	.	0.042154	0.85682	D	0.000000	T	0.38799	0.1054	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.18493	-1.0335	10	0.59425	D	0.04	.	16.0709	0.80928	1.0:0.0:0.0:0.0	.	918	Q8WW38	FOG2_HUMAN	I	918;786;786;649	ENSP00000384179:K918I;ENSP00000430757:K786I;ENSP00000428720:K786I;ENSP00000367733:K649I	ENSP00000367733:K649I	K	+	2	0	ZFPM2	106884239	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.198000	0.70561	0.528000	0.53228	AAA		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
RSPO2	340419	broad.mit.edu	37	8	109001357	109001357	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:109001357C>A	ENST00000276659.5	-	3	830	c.210G>T	c.(208-210)caG>caT	p.Q70H	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.Q3H|RSPO2_ENST00000517781.1_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	70					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.Q70H(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACTCTCCATACTGGCGCATCC	0.483																																					p.Q70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	8						.						123.0	101.0	108.0					8																	109001357		2203	4300	6503	109070533	SO:0001583	missense	340419	exon3			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.210G>T	8.37:g.109001357C>A	ENSP00000276659:p.Gln70His	Somatic		Capture	Illumina HiSeq	Phase_I	109070533	NM_178565	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636552	0.67130	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.14	4.25	0.50352	Growth factor, receptor (1);	0.054132	0.85682	D	0.000000	D	0.87873	0.6287	L	0.41356	1.27	0.80722	D	1	D	0.64830	0.994	D	0.78314	0.991	D	0.87529	0.2451	10	0.52906	T	0.07	0.7993	11.3938	0.49830	0.0:0.8514:0.0:0.1486	.	70	Q6UXX9	RSPO2_HUMAN	H	3;70;3;3;70;42;70	ENSP00000428940:Q3H;ENSP00000276659:Q70H;ENSP00000428614:Q3H;ENSP00000430485:Q3H;ENSP00000430010:Q70H;ENSP00000429159:Q42H;ENSP00000430973:Q70H	ENSP00000276659:Q70H	Q	-	3	2	RSPO2	109070533	0.962000	0.33011	1.000000	0.80357	0.996000	0.88848	0.071000	0.14594	1.280000	0.44463	0.557000	0.71058	CAG		0.483	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565	
EMC2	9694	broad.mit.edu	37	8	109489054	109489054	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:109489054G>T	ENST00000220853.3	+	9	670	c.635G>T	c.(634-636)aGa>aTa	p.R212I	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	212						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R212I(1)									GAACTTTCAAGAAAGTATTTT	0.323																																					p.R212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635T	8						.						133.0	133.0	133.0					8																	109489054		2203	4299	6502	109558230	SO:0001583	missense	9694	exon9			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.635G>T	8.37:g.109489054G>T	ENSP00000220853:p.Arg212Ile	Somatic		Capture	Illumina HiSeq	Phase_I	109558230	NM_014673	Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602655	0.66445	.	.	ENSG00000104412	ENST00000220853	T	0.72282	-0.64	6.06	6.06	0.98353	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.79713	-0.1688	10	0.08599	T	0.76	-12.2674	20.6397	0.99537	0.0:0.0:1.0:0.0	.	212	Q15006	TTC35_HUMAN	I	212	ENSP00000220853:R212I	ENSP00000220853:R212I	R	+	2	0	TTC35	109558230	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.216000	0.95154	2.880000	0.98712	0.650000	0.86243	AGA		0.323	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
EMC2	9694	broad.mit.edu	37	8	109498788	109498788	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:109498788C>T	ENST00000220853.3	+	11	890	c.855C>T	c.(853-855)gtC>gtT	p.V285V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	285						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V285V(1)									TTAAGGCTGTCGAAGACATGT	0.353																																					p.V285V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C855T	8						.						80.0	79.0	79.0					8																	109498788		2203	4300	6503	109567964	SO:0001819	synonymous_variant	9694	exon11			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.855C>T	8.37:g.109498788C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109567964	NM_014673	Q8WUE1	Silent	SNP	ENST00000220853.3	37	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695447	0.30052	.	.	ENSG00000104412	ENST00000519642	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.648	12.4673	0.55766	0.0577:0.0745:0.1504:0.7173	.	.	.	.	X	134	.	.	R	+	1	2	TTC35	109567964	0.091000	0.21658	0.114000	0.21550	0.986000	0.74619	-0.913000	0.04042	-3.205000	0.00216	-0.251000	0.11542	CGA		0.353	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
PKHD1L1	93035	broad.mit.edu	37	8	110447459	110447459	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110447459A>G	ENST00000378402.5	+	29	3485	c.3381A>G	c.(3379-3381)ggA>ggG	p.G1127G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1127	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1129G(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTGCTGGACATGCCCCCG	0.393										HNSCC(38;0.096)																											p.G1127G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3381G	8						.						165.0	162.0	163.0					8																	110447459		1851	4114	5965	110516635	SO:0001819	synonymous_variant	93035	exon29			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3381A>G	8.37:g.110447459A>G		Somatic		Capture	Illumina HiSeq	Phase_I	110516635	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110455940	110455940	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110455940G>C	ENST00000378402.5	+	37	4704	c.4600G>C	c.(4600-4602)Gca>Cca	p.A1534P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1534					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A1536P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGCTCTGTGGCAGGCTGCCT	0.408										HNSCC(38;0.096)																											p.A1534P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4600C	8						.						48.0	47.0	47.0					8																	110455940		1843	4092	5935	110525116	SO:0001583	missense	93035	exon37			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4600G>C	8.37:g.110455940G>C	ENSP00000367655:p.Ala1534Pro	Somatic		Capture	Illumina HiSeq	Phase_I	110525116	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982204	0.34942	.	.	ENSG00000205038	ENST00000378402	D	0.86297	-2.1	5.87	-2.17	0.07059	.	0.628936	0.16079	N	0.230609	T	0.76695	0.4023	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.58989	-0.7538	10	0.21014	T	0.42	.	4.5085	0.11899	0.365:0.0:0.4055:0.2295	.	1534	Q86WI1	PKHL1_HUMAN	P	1534	ENSP00000367655:A1534P	ENSP00000367655:A1534P	A	+	1	0	PKHD1L1	110525116	0.002000	0.14202	0.032000	0.17829	0.994000	0.84299	-0.290000	0.08354	-0.294000	0.08973	0.655000	0.94253	GCA		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110457371	110457371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110457371C>A	ENST00000378402.5	+	38	5377	c.5273C>A	c.(5272-5274)tCt>tAt	p.S1758Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1758	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1760Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCCAAACTCTGTCATAGGA	0.418										HNSCC(38;0.096)																											p.S1758Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5273A	8						.						86.0	80.0	82.0					8																	110457371		1873	4107	5980	110526547	SO:0001583	missense	93035	exon38			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5273C>A	8.37:g.110457371C>A	ENSP00000367655:p.Ser1758Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	110526547	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.878	0.950846	0.18431	.	.	ENSG00000205038	ENST00000378402	T	0.78595	-1.19	6.17	1.24	0.21308	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.818494	0.11093	N	0.600541	T	0.75287	0.3829	M	0.69823	2.125	0.09310	N	1	B	0.26547	0.152	B	0.32928	0.155	T	0.67569	-0.5637	10	0.87932	D	0	.	5.9573	0.19281	0.0:0.5372:0.1446:0.3182	.	1758	Q86WI1	PKHL1_HUMAN	Y	1758	ENSP00000367655:S1758Y	ENSP00000367655:S1758Y	S	+	2	0	PKHD1L1	110526547	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.761000	0.26489	0.163000	0.19507	-0.136000	0.14681	TCT		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
FAM167A	83648	broad.mit.edu	37	8	11282071	11282071	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:11282071T>C	ENST00000528897.1	-	3	1075	c.456A>G	c.(454-456)aaA>aaG	p.K152K	C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000534308.1_Silent_p.K152K|FAM167A_ENST00000284486.4_Silent_p.K152K|C8orf12_ENST00000529305.1_Intron			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	152								p.K152K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TGTGTTCGATTTTCAGCTTGT	0.627																																					p.K152K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A456G	8						.						129.0	96.0	108.0					8																	11282071		2203	4300	6503	11319481	SO:0001819	synonymous_variant	83648	exon3				CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.456A>G	8.37:g.11282071T>C		Somatic		Capture	Illumina HiSeq	Phase_I	11319481	NM_053279	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Silent	SNP	ENST00000528897.1	37	CCDS5981.1																																																																																				0.627	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1		
PKHD1L1	93035	broad.mit.edu	37	8	110530611	110530611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110530611C>T	ENST00000378402.5	+	73	12009	c.11905C>T	c.(11905-11907)Cca>Tca	p.P3969S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3969					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P3973S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTAAAGATACCAAGTGACAA	0.373										HNSCC(38;0.096)																											p.P3969S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11905T	8						.						104.0	103.0	103.0					8																	110530611		1847	4089	5936	110599787	SO:0001583	missense	93035	exon73			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11905C>T	8.37:g.110530611C>T	ENSP00000367655:p.Pro3969Ser	Somatic		Capture	Illumina HiSeq	Phase_I	110599787	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791970	0.70452	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85955	-2.05;-1.87	5.63	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	L	0.56280	1.765	0.37939	D	0.932253	B	0.33883	0.43	B	0.24269	0.052	T	0.74902	-0.3506	10	0.20519	T	0.43	.	10.1594	0.42842	0.0:0.8373:0.0:0.1627	.	3969	Q86WI1	PKHL1_HUMAN	S	3969;897	ENSP00000367655:P3969S;ENSP00000437376:P897S	ENSP00000367655:P3969S	P	+	1	0	PKHD1L1	110599787	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.143000	0.50608	1.508000	0.48769	0.655000	0.94253	CCA		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	broad.mit.edu	37	8	113318305	113318305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:113318305C>A	ENST00000297405.5	-	51	8246	c.8002G>T	c.(8002-8004)Gaa>Taa	p.E2668*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E2564*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E2628*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E2598*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2668	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2668*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGTGAGTTCTTTGGATGAC	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.E2668X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8002T	8						.						213.0	193.0	200.0					8																	113318305		2203	4300	6503	113387481	SO:0001587	stop_gained	114788	exon51			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8002G>T	8.37:g.113318305C>A	ENSP00000297405:p.Glu2668*	Somatic		Capture	Illumina HiSeq	Phase_I	113387481	NM_198123	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	49	15.682201	0.99841	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.9213	0.92526	0.0:1.0:0.0:0.0	.	.	.	.	X	2628;2668;1938;2564;2598	.	ENSP00000297405:E2668X	E	-	1	0	CSMD3	113387481	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.981000	0.70524	2.475000	0.83589	0.557000	0.71058	GAA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113318404	113318404	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:113318404G>T	ENST00000297405.5	-	51	8147	c.7903C>A	c.(7903-7905)Cct>Act	p.P2635T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2531T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2595T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2565T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2635	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2635T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGCTTTAGGAATCCCACAG	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P2635T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7903A	8						.						90.0	84.0	86.0					8																	113318404		2203	4300	6503	113387580	SO:0001583	missense	114788	exon51			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7903C>A	8.37:g.113318404G>T	ENSP00000297405:p.Pro2635Thr	Somatic		Capture	Illumina HiSeq	Phase_I	113387580	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446930	0.84101	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.95085	0.8408	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.991	D	0.95984	0.8980	10	0.66056	D	0.02	.	19.4468	0.94851	0.0:0.0:1.0:0.0	.	2531;2635;2595	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2595;2635;1905;2531;2565	ENSP00000345799:P2595T;ENSP00000297405:P2635T;ENSP00000341558:P1905T;ENSP00000412263:P2531T;ENSP00000343124:P2565T	ENSP00000297405:P2635T	P	-	1	0	CSMD3	113387580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.851000	0.86920	2.591000	0.87537	0.557000	0.71058	CCT		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113326691	113326691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:113326691C>T	ENST00000297405.5	-	48	7760	c.7516G>A	c.(7516-7518)Gaa>Aaa	p.E2506K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2402K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2466K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2436K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2506	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2506K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCCTTTTCTGTCTGGAAG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.E2506K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7516A	8						.						107.0	103.0	104.0					8																	113326691		2203	4300	6503	113395867	SO:0001583	missense	114788	exon48			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7516G>A	8.37:g.113326691C>T	ENSP00000297405:p.Glu2506Lys	Somatic		Capture	Illumina HiSeq	Phase_I	113395867	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336285	0.95758	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	T	0.75398	0.3844	H	0.95780	3.72	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.81929	-0.0708	10	0.48119	T	0.1	.	18.4156	0.90568	0.0:1.0:0.0:0.0	.	2402;2506;2466	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2466;2506;1776;2402;2436	ENSP00000345799:E2466K;ENSP00000297405:E2506K;ENSP00000341558:E1776K;ENSP00000412263:E2402K;ENSP00000343124:E2436K	ENSP00000297405:E2506K	E	-	1	0	CSMD3	113395867	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.647000	0.83462	2.576000	0.86940	0.579000	0.79373	GAA		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113697735	113697735	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:113697735A>C	ENST00000297405.5	-	15	2626	c.2382T>G	c.(2380-2382)gcT>gcG	p.A794A	CSMD3_ENST00000455883.2_Silent_p.A690A|CSMD3_ENST00000343508.3_Silent_p.A754A|CSMD3_ENST00000352409.3_Silent_p.A794A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	794	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A794A(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGGCACCTCAGCCCCAGTAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.A794A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2382G	8						.						96.0	96.0	96.0					8																	113697735		2203	4300	6503	113766911	SO:0001819	synonymous_variant	114788	exon15			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2382T>G	8.37:g.113697735A>C		Somatic		Capture	Illumina HiSeq	Phase_I	113766911	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113988126	113988126	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:113988126T>G	ENST00000297405.5	-	7	1526	c.1282A>C	c.(1282-1284)Aga>Cga	p.R428R	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.R388R|CSMD3_ENST00000352409.3_Silent_p.R428R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R428R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCTTGGTCTTCTCCTGGTA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R428R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1282C	8						.						211.0	189.0	196.0					8																	113988126		2203	4300	6503	114057302	SO:0001819	synonymous_variant	114788	exon7			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1282A>C	8.37:g.113988126T>G		Somatic		Capture	Illumina HiSeq	Phase_I	114057302	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	114186078	114186078	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:114186078G>A	ENST00000297405.5	-	4	826	c.582C>T	c.(580-582)ttC>ttT	p.F194F	CSMD3_ENST00000455883.2_Silent_p.F194F|CSMD3_ENST00000343508.3_Silent_p.F154F|CSMD3_ENST00000352409.3_Silent_p.F194F|CSMD3_ENST00000519485.1_5'Flank	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	194	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F194F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCGACGTCGAATCTTGTGC	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.F194F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C582T	8						.																																			114255254	SO:0001819	synonymous_variant	114788	exon4			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.582C>T	8.37:g.114186078G>A		Somatic		Capture	Illumina HiSeq	Phase_I	114255254	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:116617112C>T	ENST00000220888.5	-	3	1204	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408									Langer-Giedion syndrome																												p.E362K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	8						.						111.0	107.0	108.0					8																	116617112		1870	4095	5965	116686287	SO:0001583	missense	7227	exon4	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1045G>A	8.37:g.116617112C>T	ENSP00000220888:p.Glu349Lys	Somatic		Capture	Illumina HiSeq	Phase_I	116686287	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	TRPS1	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA		0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
TRPS1	7227	broad.mit.edu	37	8	116631435	116631435	+	Missense_Mutation	SNP	C	C	T	rs376460318		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:116631435C>T	ENST00000220888.5	-	2	1010	c.851G>A	c.(850-852)cGt>cAt	p.R284H	TRPS1_ENST00000519674.1_Missense_Mutation_p.R284H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R238H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R288H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R297H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	284					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R284P(1)|p.R284H(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAACACAGAACGGTTGACCTT	0.453									Langer-Giedion syndrome																												p.R297H												TRPS1,lung,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G890A	8						.	C	HIS/ARG	0,3836		0,0,1918	96.0	89.0	91.0		890	5.4	1.0	8		91	1,8293		0,1,4146	no	missense	TRPS1	NM_014112.2	29	0,1,6064	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	297/1295	116631435	1,12129	1918	4147	6065	116700610	SO:0001583	missense	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.851G>A	8.37:g.116631435C>T	ENSP00000220888:p.Arg284His	Somatic		Capture	Illumina HiSeq	Phase_I	116700610	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	18.70	3.681146	0.68042	0.0	1.21E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.41	5.41	0.78517	.	0.291698	0.34676	N	0.003764	D	0.82332	0.5014	N	0.19112	0.55	0.43308	D	0.995316	D;D;D	0.65815	0.995;0.992;0.995	P;P;P	0.53861	0.736;0.549;0.736	D	0.85370	0.1113	10	0.87932	D	0	.	19.1937	0.93677	0.0:1.0:0.0:0.0	.	288;284;297	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	297;284;238;288;284	ENSP00000379065:R297H;ENSP00000220888:R284H;ENSP00000428910:R238H;ENSP00000428680:R288H;ENSP00000429174:R284H	ENSP00000220888:R284H	R	-	2	0	TRPS1	116700610	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.348000	0.52209	2.542000	0.85734	0.460000	0.39030	CGT		0.453	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
TRPS1	7227	broad.mit.edu	37	8	116632163	116632163	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:116632163C>T	ENST00000220888.5	-	2	282	c.123G>A	c.(121-123)caG>caA	p.Q41Q	TRPS1_ENST00000519674.1_Silent_p.Q41Q|TRPS1_ENST00000519076.1_Silent_p.Q41Q|TRPS1_ENST00000520276.1_Silent_p.Q45Q|TRPS1_ENST00000395715.3_Silent_p.Q54Q			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	41					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.M42fs*10(1)|p.Q41Q(1)|p.M55fs*10(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCTGACATCTGATCTGCAG	0.433									Langer-Giedion syndrome																												p.Q54Q												.	.	3	Deletion - Frameshift(2)|Substitution - coding silent(1)	breast(2)|large_intestine(1)	c.G162A	8						.						114.0	102.0	106.0					8																	116632163		1887	4139	6026	116701338	SO:0001819	synonymous_variant	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.123G>A	8.37:g.116632163C>T		Somatic		Capture	Illumina HiSeq	Phase_I	116701338	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																					0.433	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
UTP23	84294	broad.mit.edu	37	8	117783848	117783848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:117783848G>T	ENST00000309822.2	+	3	618	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	173					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E173*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						GCATGAGAAAGAAAGTATCAA	0.388																																					p.E173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G517T	8						.						89.0	86.0	87.0					8																	117783848		2203	4300	6503	117853029	SO:0001587	stop_gained	84294	exon3				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.517G>T	8.37:g.117783848G>T	ENSP00000308332:p.Glu173*	Somatic		Capture	Illumina HiSeq	Phase_I	117853029	NM_032334	B2RE25|Q96NJ8	Nonsense_Mutation	SNP	ENST00000309822.2	37	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371105	0.82573	.	.	ENSG00000147679	ENST00000309822	.	.	.	5.96	-0.666	0.11399	.	0.340613	0.35179	N	0.003381	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.2692	19.3983	0.94617	0.09:0.2678:0.6422:0.0	.	.	.	.	X	173	.	ENSP00000308332:E173X	E	+	1	0	UTP23	117853029	0.838000	0.29461	0.681000	0.30009	0.882000	0.50991	-0.047000	0.11963	-0.116000	0.11893	-0.165000	0.13383	GAA		0.388	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334	
USP17L2	377630	broad.mit.edu	37	8	11995473	11995473	+	Missense_Mutation	SNP	G	G	A	rs374048343		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:11995473G>A	ENST00000333796.3	-	1	1113	c.797C>T	c.(796-798)aCg>aTg	p.T266M	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	266	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T266M(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TAAAGTTAACGTCTTGGAGGC	0.488																																					p.T266M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C797T	8						.	A	MET/THR	1,2247		0,1,1123	25.0	29.0	27.0		797	-0.3	0.0	8		27	0,5284		0,0,2642	no	missense	USP17L2	NM_201402.2	81	0,1,3765	AA,AG,GG		0.0,0.0445,0.0133	benign	266/531	11995473	1,7531	1124	2642	3766	12032882	SO:0001583	missense	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.797C>T	8.37:g.11995473G>A	ENSP00000333329:p.Thr266Met	Somatic		Capture	Illumina HiSeq	Phase_I	12032882	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462675	0.12402	4.45E-4	0.0	ENSG00000223443	ENST00000333796	T	0.31769	1.48	0.745	-0.335	0.12662	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.450195	0.19120	N	0.122213	T	0.20414	0.0491	L	0.50919	1.6	0.09310	N	1	P	0.40681	0.727	B	0.36808	0.233	T	0.11470	-1.0586	10	0.51188	T	0.08	.	3.3559	0.07169	0.3198:0.0:0.6802:0.0	.	266	Q6R6M4	U17L2_HUMAN	M	266	ENSP00000333329:T266M	ENSP00000333329:T266M	T	-	2	0	USP17L2	12032882	0.026000	0.19158	0.006000	0.13384	0.003000	0.03518	-0.084000	0.11268	-0.078000	0.12730	-0.365000	0.07479	ACG		0.488	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
USP17L2	377630	broad.mit.edu	37	8	11995934	11995934	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:11995934C>A	ENST00000333796.3	-	1	652	c.336G>T	c.(334-336)gaG>gaT	p.E112D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	112	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E112D(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTTGAGAGTGCTCCCGGGACA	0.562																																					p.E112D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	8						.						15.0	16.0	16.0					8																	11995934		1156	2451	3607	12033343	SO:0001583	missense	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.336G>T	8.37:g.11995934C>A	ENSP00000333329:p.Glu112Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12033343	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.139068	0.37728	.	.	ENSG00000223443	ENST00000333796	T	0.30981	1.51	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.149825	0.41097	D	0.000954	T	0.26011	0.0634	L	0.49699	1.58	0.29056	N	0.884197	B	0.22541	0.071	B	0.34346	0.18	T	0.23655	-1.0182	10	0.72032	D	0.01	.	3.144	0.06466	0.0:0.6786:0.0:0.3214	.	112	Q6R6M4	U17L2_HUMAN	D	112	ENSP00000333329:E112D	ENSP00000333329:E112D	E	-	3	2	USP17L2	12033343	0.995000	0.38212	0.005000	0.12908	0.028000	0.11728	0.072000	0.14617	0.733000	0.32492	0.472000	0.43445	GAG		0.562	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
EXT1	2131	broad.mit.edu	37	8	118825173	118825173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:118825173C>T	ENST00000378204.2	-	8	2466	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	554					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D554N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATGATGTTGTCGTAGGGCAGA	0.527			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.D554N		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660A	8						.						159.0	123.0	135.0					8																	118825173		2203	4300	6503	118894354	SO:0001583	missense	2131	exon8	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1660G>A	8.37:g.118825173C>T	ENSP00000367446:p.Asp554Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118894354	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.262806	0.59431	.	.	ENSG00000182197	ENST00000378204	T	0.77098	-1.07	5.84	5.84	0.93424	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.044474	0.85682	D	0.000000	T	0.77343	0.4116	M	0.64567	1.98	0.52099	D	0.999949	B	0.02656	0.0	B	0.08055	0.003	T	0.70332	-0.4901	10	0.32370	T	0.25	-3.0279	20.1551	0.98106	0.0:1.0:0.0:0.0	.	554	Q16394	EXT1_HUMAN	N	554	ENSP00000367446:D554N	ENSP00000367446:D554N	D	-	1	0	EXT1	118894354	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.018000	0.57174	2.760000	0.94817	0.655000	0.94253	GAC		0.527	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
NOV	4856	broad.mit.edu	37	8	120435265	120435265	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:120435265A>G	ENST00000259526.3	+	5	1194	c.967A>G	c.(967-969)Aag>Gag	p.K323E	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.K323E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AATAGTCAAGAAGCCAGTGAT	0.547																																					p.K323E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A967G	8						.						162.0	153.0	156.0					8																	120435265		2203	4300	6503	120504446	SO:0001583	missense	4856	exon5			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.967A>G	8.37:g.120435265A>G	ENSP00000259526:p.Lys323Glu	Somatic		Capture	Illumina HiSeq	Phase_I	120504446	NM_002514		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494092	0.85069	.	.	ENSG00000136999	ENST00000259526	T	0.26660	1.72	5.72	5.72	0.89469	Cystine knot (1);Cystine knot, C-terminal (3);	0.140562	0.64402	D	0.000005	T	0.50446	0.1616	M	0.84585	2.705	0.38033	D	0.93522	D	0.57571	0.98	P	0.59487	0.858	T	0.61806	-0.6987	10	0.66056	D	0.02	-8.9205	12.5068	0.55986	0.8608:0.1392:0.0:0.0	.	323	P48745	NOV_HUMAN	E	323	ENSP00000259526:K323E	ENSP00000259526:K323E	K	+	1	0	NOV	120504446	1.000000	0.71417	0.985000	0.45067	0.787000	0.44495	5.042000	0.64202	2.181000	0.69327	0.455000	0.32223	AAG		0.547	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514	
ENPP2	5168	broad.mit.edu	37	8	120602846	120602846	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:120602846C>A	ENST00000075322.6	-	13	1164	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ENPP2_ENST00000522826.1_Missense_Mutation_p.R369I|ENPP2_ENST00000522167.1_Missense_Mutation_p.R8I|ENPP2_ENST00000427067.2_Missense_Mutation_p.R365I|ENPP2_ENST00000259486.6_Missense_Mutation_p.R421I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	369					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R421I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAACTCAGTTCTATCACATGT	0.348																																					p.R369I	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106T	8						.						96.0	98.0	97.0					8																	120602846		2203	4300	6503	120672027	SO:0001583	missense	5168	exon13			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1106G>T	8.37:g.120602846C>A	ENSP00000075322:p.Arg369Ile	Somatic		Capture	Illumina HiSeq	Phase_I	120672027	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168015	0.78339	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.66	5.66	0.87406	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.260127	0.42294	D	0.000734	D	0.89832	0.6829	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.982;0.998	D;D;D;D	0.69479	0.964;0.946;0.939;0.946	D	0.90848	0.4729	10	0.72032	D	0.01	-28.2605	19.7534	0.96277	0.0:1.0:0.0:0.0	.	369;369;421;8	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	I	421;365;8;369;369	ENSP00000259486:R421I;ENSP00000403315:R365I;ENSP00000429476:R8I;ENSP00000428291:R369I;ENSP00000075322:R369I	ENSP00000075322:R369I	R	-	2	0	ENPP2	120672027	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	3.718000	0.54919	2.673000	0.90976	0.650000	0.86243	AGA		0.348	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
ENPP2	5168	broad.mit.edu	37	8	120608240	120608240	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:120608240C>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.E325D	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E325D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATAACTACTCTCCTGTACTG	0.478																																					p.E325D	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G975T	8						.						80.0	75.0	77.0					8																	120608240		2203	4300	6503	120677421	SO:0001627	intron_variant	5168	exon12			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2140G>T	8.37:g.120608240C>A		Somatic		Capture	Illumina HiSeq	Phase_I	120677421	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689278	0.68271	.	.	ENSG00000136960	ENST00000259486	T	0.72835	-0.69	5.73	4.86	0.63082	.	4.234910	0.00508	N	0.000176	D	0.84669	0.5523	.	.	.	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.65364	-0.6186	9	0.28530	T	0.3	.	15.2928	0.73879	0.0:0.8609:0.1391:0.0	.	325	Q13822-2	.	D	325	ENSP00000259486:E325D	ENSP00000259486:E325D	E	-	3	2	ENPP2	120677421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.367000	0.44213	1.435000	0.47434	0.655000	0.94253	GAG		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
TAF2	6873	broad.mit.edu	37	8	120797469	120797469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:120797469C>A	ENST00000378164.2	-	15	2129	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	611					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E611*(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATATCAACTTCTTCTCCATTC	0.303																																					p.E611X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1831T	8						.						90.0	90.0	90.0					8																	120797469		2200	4294	6494	120866650	SO:0001587	stop_gained	6873	exon15			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1831G>T	8.37:g.120797469C>A	ENSP00000367406:p.Glu611*	Somatic		Capture	Illumina HiSeq	Phase_I	120866650	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	42	9.313860	0.99133	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-30.3663	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	611	.	ENSP00000367406:E611X	E	-	1	0	TAF2	120866650	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.635000	0.83286	2.824000	0.97209	0.655000	0.94253	GAA		0.303	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
COL14A1	7373	broad.mit.edu	37	8	121180438	121180438	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:121180438G>A	ENST00000297848.3	+	5	658	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V130I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V130I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.V130I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V130I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAAGCCCAGAGTCAAAGTTGT	0.353																																					p.V130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	8						.						91.0	97.0	95.0					8																	121180438		2203	4300	6503	121249619	SO:0001583	missense	7373	exon5				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.388G>A	8.37:g.121180438G>A	ENSP00000297848:p.Val130Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121249619	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387709	0.42308	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.87334	0.46;-2.11;-2.14;-2.24	5.52	5.52	0.82312	.	0.649796	0.14711	N	0.302961	T	0.79701	0.4491	N	0.24115	0.695	0.34557	D	0.711902	B	0.31383	0.321	B	0.25614	0.062	T	0.81470	-0.0918	10	0.34782	T	0.22	.	16.1608	0.81704	0.0:0.0:1.0:0.0	.	130	Q05707	COEA1_HUMAN	I	130	ENSP00000443974:V130I;ENSP00000311809:V130I;ENSP00000297848:V130I;ENSP00000247781:V130I	ENSP00000247781:V130I	V	+	1	0	COL14A1	121249619	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.292000	0.65673	2.592000	0.87571	0.561000	0.74099	GTC		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121290381	121290381	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:121290381G>T	ENST00000297848.3	+	27	3515	c.3245G>T	c.(3244-3246)aGa>aTa	p.R1082I	COL14A1_ENST00000309791.4_Missense_Mutation_p.R1082I|COL14A1_ENST00000247781.3_Missense_Mutation_p.R987I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R1082I(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGATCCCAGAACAGAATTT	0.383																																					p.R1082I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3245T	8						.						109.0	114.0	112.0					8																	121290381		2203	4300	6503	121359562	SO:0001583	missense	7373	exon27				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3245G>T	8.37:g.121290381G>T	ENSP00000297848:p.Arg1082Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121359562	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375168	0.95923	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.84223	-1.82;-1.82;-1.82	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93330	0.6700	10	0.72032	D	0.01	.	19.618	0.95643	0.0:0.0:1.0:0.0	.	1082	Q05707	COEA1_HUMAN	I	1082;1082;987	ENSP00000311809:R1082I;ENSP00000297848:R1082I;ENSP00000247781:R987I	ENSP00000247781:R987I	R	+	2	0	COL14A1	121359562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.741000	0.74837	2.635000	0.89317	0.650000	0.86243	AGA		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121354657	121354657	+	Silent	SNP	G	G	A	rs116831553	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:121354657G>A	ENST00000297848.3	+	44	5130	c.4860G>A	c.(4858-4860)gcG>gcA	p.A1620A	COL14A1_ENST00000309791.4_Silent_p.A1620A|COL14A1_ENST00000247781.3_Silent_p.A1525A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A1620A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATCAGTGGCGCGTCAAGTAT	0.473													G|||	14	0.00279553	0.0	0.0	5008	,	,		20639	0.0129		0.001	False		,,,				2504	0.0				p.A1620A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4860A	8						.	G		0,4406		0,0,2203	205.0	170.0	182.0		4860	-10.6	0.5	8	dbSNP_132	182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL14A1	NM_021110.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1620/1797	121354657	1,13005	2203	4300	6503	121423838	SO:0001819	synonymous_variant	7373	exon44				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4860G>A	8.37:g.121354657G>A		Somatic		Capture	Illumina HiSeq	Phase_I	121423838	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
ZHX2	22882	broad.mit.edu	37	8	123965624	123965624	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:123965624C>A	ENST00000314393.4	+	3	2709	c.1874C>A	c.(1873-1875)tCt>tAt	p.S625Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	625					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S625Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTAACAAGTTCTCTGCCCAGC	0.547																																					p.S625Y	Esophageal Squamous(94;1056 1388 11767 13799 49639)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1874A	8						.						68.0	68.0	68.0					8																	123965624		2203	4300	6503	124034805	SO:0001583	missense	22882	exon3			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1874C>A	8.37:g.123965624C>A	ENSP00000314709:p.Ser625Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124034805	NM_014943		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030688	0.35797	.	.	ENSG00000178764	ENST00000314393	T	0.19669	2.13	5.94	5.94	0.96194	.	0.776481	0.12278	N	0.483194	T	0.23688	0.0573	N	0.14661	0.345	0.46416	D	0.99903	P	0.48503	0.911	P	0.48901	0.594	T	0.10086	-1.0645	10	0.62326	D	0.03	-1.542	18.5438	0.91039	0.0:1.0:0.0:0.0	.	625	Q9Y6X8	ZHX2_HUMAN	Y	625	ENSP00000314709:S625Y	ENSP00000314709:S625Y	S	+	2	0	ZHX2	124034805	0.957000	0.32711	0.655000	0.29622	0.444000	0.32077	6.993000	0.76245	2.826000	0.97356	0.561000	0.74099	TCT		0.547	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
TBC1D31	93594	broad.mit.edu	37	8	124164093	124164093	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124164093C>A	ENST00000287380.1	+	22	3205	c.3115C>A	c.(3115-3117)Ctt>Att	p.L1039I	TBC1D31_ENST00000327098.5_Missense_Mutation_p.L943I|TBC1D31_ENST00000518805.1_Missense_Mutation_p.L593I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.L916I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.L934I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.L974I|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	1039						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.L1039I(1)									GGGACAGAATCTTATTAAGAA	0.413																																					p.L943I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2827A	8						.						62.0	64.0	63.0					8																	124164093		2203	4300	6503	124233274	SO:0001583	missense	93594	exon20			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.3115C>A	8.37:g.124164093C>A	ENSP00000287380:p.Leu1039Ile	Somatic		Capture	Illumina HiSeq	Phase_I	124233274	NM_001145088	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587300	0.46110	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;D;D;D;D;T	0.88586	-1.56;-2.07;-2.12;-2.05;-2.4;0.89	5.13	5.13	0.70059	.	0.162505	0.42053	D	0.000779	D	0.91520	0.7322	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.978;0.987;0.996;0.999	P;P;P;D	0.80764	0.646;0.887;0.835;0.994	D	0.92638	0.6122	10	0.87932	D	0	-15.1745	17.722	0.88355	0.0:1.0:0.0:0.0	.	943;974;934;1039	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	I	1039;974;943;934;916;593	ENSP00000287380:L1039I;ENSP00000308358:L974I;ENSP00000312701:L943I;ENSP00000429334:L934I;ENSP00000430628:L916I;ENSP00000429494:L593I	ENSP00000287380:L1039I	L	+	1	0	WDR67	124233274	0.843000	0.29541	0.060000	0.19600	0.014000	0.08584	1.698000	0.37794	2.540000	0.85666	0.491000	0.48974	CTT		0.413	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	
ZHX1	11244	broad.mit.edu	37	8	124266004	124266004	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124266004C>T	ENST00000522655.1	-	3	2723	c.2183G>A	c.(2182-2184)aGc>aAc	p.S728N	ZHX1_ENST00000297857.2_Missense_Mutation_p.S728N|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.S728N|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	728					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S728N(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTGGCGCTCTGATAGTA	0.488																																					p.S728N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2183A	8						.						114.0	102.0	107.0					8																	124266004		2203	4300	6503	124335185	SO:0001583	missense	11244	exon3			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2183G>A	8.37:g.124266004C>T	ENSP00000428821:p.Ser728Asn	Somatic		Capture	Illumina HiSeq	Phase_I	124335185	NM_001017926	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.74|13.74	2.327085|2.327085	0.41197|0.41197	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|D;D;D	.|0.91843	.|-2.92;-2.92;-2.92	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.248039	.|0.49916	.|D	.|0.000130	D|D	0.89343|0.89343	0.6688|0.6688	.|.	.|.	.|.	0.48452|0.48452	D|D	0.999653|0.999653	.|P	.|0.43094	.|0.799	.|B	.|0.40901	.|0.343	D|D	0.86355|0.86355	0.1713|0.1713	4|9	.|0.16896	.|T	.|0.51	-15.711|-15.711	20.5792|20.5792	0.99380|0.99380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|728	.|Q9UKY1	.|ZHX1_HUMAN	T|N	413|728	.|ENSP00000297857:S728N;ENSP00000378938:S728N;ENSP00000428821:S728N	.|ENSP00000297857:S728N	A|S	-|-	1|2	0|0	ZHX1|ZHX1	124335185|124335185	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.931000|0.931000	0.56810|0.56810	5.472000|5.472000	0.66768|0.66768	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCG|AGC		0.488	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
ZHX1	11244	broad.mit.edu	37	8	124266785	124266785	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124266785G>A	ENST00000522655.1	-	3	1942	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	ZHX1_ENST00000297857.2_Missense_Mutation_p.R468W|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.R468W|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	468	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R468W(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTTTGCCCGAATGCCAAAT	0.383																																					p.R468W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1402T	8						.						140.0	149.0	146.0					8																	124266785		2203	4299	6502	124335966	SO:0001583	missense	11244	exon3			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1402C>T	8.37:g.124266785G>A	ENSP00000428821:p.Arg468Trp	Somatic		Capture	Illumina HiSeq	Phase_I	124335966	NM_001017926	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297728	0.40694	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	D;D;D	0.99186	-5.53;-5.53;-5.53	5.27	4.41	0.53225	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.270097	0.36628	N	0.002491	D	0.99217	0.9728	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.99208	1.0875	9	0.72032	D	0.01	-7.535	15.6154	0.76764	0.0:0.0:0.8615:0.1385	.	468	Q9UKY1	ZHX1_HUMAN	W	468	ENSP00000297857:R468W;ENSP00000378938:R468W;ENSP00000428821:R468W	ENSP00000297857:R468W	R	-	1	2	ZHX1	124335966	1.000000	0.71417	0.996000	0.52242	0.374000	0.29953	5.173000	0.65010	1.464000	0.47987	-0.234000	0.12200	CGG		0.383	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
ZHX1	11244	broad.mit.edu	37	8	124267739	124267739	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124267739C>A	ENST00000522655.1	-	3	988	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	ZHX1_ENST00000297857.2_Missense_Mutation_p.D150Y|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.D150Y|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	150					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D150Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGTCAGATCATTTATTGTT	0.343																																					p.D150Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448T	8						.						105.0	101.0	103.0					8																	124267739		2203	4299	6502	124336920	SO:0001583	missense	11244	exon3			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.448G>T	8.37:g.124267739C>A	ENSP00000428821:p.Asp150Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124336920	NM_001017926	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686509	0.68157	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.53640	0.61;0.61;0.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.73154	-0.4072	9	0.62326	D	0.03	-22.3924	19.7433	0.96241	0.0:1.0:0.0:0.0	.	150	Q9UKY1	ZHX1_HUMAN	Y	150	ENSP00000297857:D150Y;ENSP00000378938:D150Y;ENSP00000428821:D150Y	ENSP00000297857:D150Y	D	-	1	0	ZHX1	124336920	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.371000	0.79600	2.662000	0.90505	0.555000	0.69702	GAT		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
ZHX1	11244	broad.mit.edu	37	8	124267981	124267981	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124267981C>T	ENST00000522655.1	-	3	746	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ZHX1_ENST00000297857.2_Missense_Mutation_p.G69E|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000395571.3_Missense_Mutation_p.G69E|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	69					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G69E(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACATTCATATCCACCTTCAAC	0.348																																					p.G69E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	8						.						130.0	128.0	129.0					8																	124267981		2203	4300	6503	124337162	SO:0001583	missense	11244	exon3			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.206G>A	8.37:g.124267981C>T	ENSP00000428821:p.Gly69Glu	Somatic		Capture	Illumina HiSeq	Phase_I	124337162	NM_001017926	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811735	0.70797	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.54479	0.57;0.57;0.57	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.74979	-0.3479	9	0.62326	D	0.03	-10.3753	20.4366	0.99092	0.0:1.0:0.0:0.0	.	69	Q9UKY1	ZHX1_HUMAN	E	69	ENSP00000297857:G69E;ENSP00000378938:G69E;ENSP00000428821:G69E	ENSP00000297857:G69E	G	-	2	0	ZHX1	124337162	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.473000	0.81007	2.837000	0.97791	0.591000	0.81541	GGA		0.348	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
WDYHV1	55093	broad.mit.edu	37	8	124453576	124453576	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124453576G>A	ENST00000287387.2	+	6	664	c.539G>A	c.(538-540)aGt>aAt	p.S180N	WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_Missense_Mutation_p.S32N|WDYHV1_ENST00000523984.1_Missense_Mutation_p.S120N	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	180					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)	p.S180N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GATTTCATCAGTATGGATCCC	0.373																																					p.S180N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	8						.						68.0	57.0	61.0					8																	124453576		2203	4300	6503	124522757	SO:0001583	missense	55093	exon6			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.539G>A	8.37:g.124453576G>A	ENSP00000287387:p.Ser180Asn	Somatic		Capture	Illumina HiSeq	Phase_I	124522757	NM_018024	B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312675	0.60414	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T;T	0.18174	2.23;2.23;2.23	6.02	6.02	0.97574	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.081755	0.85682	D	0.000000	T	0.19327	0.0464	L	0.51853	1.615	0.43745	D	0.99624	B	0.28801	0.223	B	0.24394	0.053	T	0.02512	-1.1148	10	0.23891	T	0.37	-17.1213	19.3122	0.94192	0.0:0.0:1.0:0.0	.	180	Q96HA8	NTAQ1_HUMAN	N	180;120;32	ENSP00000287387:S180N;ENSP00000430427:S120N;ENSP00000429258:S32N	ENSP00000287387:S180N	S	+	2	0	WDYHV1	124522757	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.276000	0.58933	2.865000	0.98341	0.655000	0.94253	AGT		0.373	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024	
FBXO32	114907	broad.mit.edu	37	8	124525479	124525479	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124525479G>T	ENST00000517956.1	-	6	801	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	204					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.L204I(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCCAGTGGAGAATCGTCTCC	0.562																																					p.L204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610A	8						.						127.0	104.0	112.0					8																	124525479		2203	4300	6503	124594660	SO:0001583	missense	114907	exon6			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.610C>A	8.37:g.124525479G>T	ENSP00000428205:p.Leu204Ile	Somatic		Capture	Illumina HiSeq	Phase_I	124594660	NM_058229	A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680673	0.47886	.	.	ENSG00000156804	ENST00000517956	T	0.23552	1.9	5.64	4.77	0.60923	.	0.127712	0.53938	D	0.000048	T	0.23370	0.0565	L	0.43152	1.355	0.80722	D	1	B	0.28419	0.211	B	0.34931	0.192	T	0.05068	-1.0908	10	0.22109	T	0.4	0.0251	9.9592	0.41686	0.0725:0.1384:0.7892:0.0	.	204	Q969P5	FBX32_HUMAN	I	204	ENSP00000428205:L204I	ENSP00000428205:L204I	L	-	1	0	FBXO32	124594660	1.000000	0.71417	0.321000	0.25320	0.988000	0.76386	5.569000	0.67391	1.393000	0.46605	0.561000	0.74099	CTC		0.562	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		
KLHL38	340359	broad.mit.edu	37	8	124664059	124664059	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124664059G>A	ENST00000325995.7	-	1	1131	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	370								p.L370L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGGGCCACCAGCATGGGCTCC	0.577																																					p.L370L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1108T	8						.						62.0	64.0	63.0					8																	124664059		2023	4185	6208	124733240	SO:0001819	synonymous_variant	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1108C>T	8.37:g.124664059G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124733240	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																				0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
FAM91A1	157769	broad.mit.edu	37	8	124821165	124821165	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:124821165G>A	ENST00000334705.7	+	22	2416	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	FAM91A1_ENST00000521166.1_Missense_Mutation_p.E724K	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	724								p.E724K(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGTTCCTCTCGAGCTGTGCTT	0.363																																					p.E724K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2170A	8						.						78.0	66.0	70.0					8																	124821165		1824	4067	5891	124890346	SO:0001583	missense	157769	exon22			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.2170G>A	8.37:g.124821165G>A	ENSP00000335082:p.Glu724Lys	Somatic		Capture	Illumina HiSeq	Phase_I	124890346	NM_144963	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600912	0.87055	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.34472	1.36;1.36	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.43152	1.355	0.80722	D	1	D;P	0.65815	0.995;0.953	D;B	0.70716	0.97;0.148	T	0.54708	-0.8253	10	0.66056	D	0.02	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	724;724	E7ER68;Q658Y4	.;F91A1_HUMAN	K	724	ENSP00000429491:E724K;ENSP00000335082:E724K	ENSP00000335082:E724K	E	+	1	0	FAM91A1	124890346	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	9.438000	0.97539	2.556000	0.86216	0.591000	0.81541	GAG		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	
FER1L6	654463	broad.mit.edu	37	8	125022842	125022842	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125022842A>C	ENST00000522917.1	+	14	1915	c.1709A>C	c.(1708-1710)aAc>aCc	p.N570T	FER1L6_ENST00000399018.1_Missense_Mutation_p.N570T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	570						integral component of membrane (GO:0016021)		p.N570T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAATTACAACTATTTGCCA	0.453																																					p.N570T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1709C	8						.						135.0	127.0	130.0					8																	125022842		1946	4151	6097	125092023	SO:0001583	missense	654463	exon14			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1709A>C	8.37:g.125022842A>C	ENSP00000428280:p.Asn570Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125092023	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.754503	0.31046	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80909	-1.43;-1.43	5.34	5.34	0.76211	.	1.899480	0.02944	U	0.140825	T	0.78679	0.4321	L	0.47716	1.5	0.26966	N	0.96569	B	0.06786	0.001	B	0.04013	0.001	T	0.61397	-0.7071	10	0.56958	D	0.05	.	9.427	0.38586	0.9159:0.0:0.0841:0.0	.	570	Q2WGJ9	FR1L6_HUMAN	T	570	ENSP00000428280:N570T;ENSP00000381982:N570T	ENSP00000381982:N570T	N	+	2	0	FER1L6	125092023	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.201000	0.42734	2.009000	0.58944	0.533000	0.62120	AAC		0.453	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125052186	125052186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125052186G>A	ENST00000522917.1	+	20	2734	c.2528G>A	c.(2527-2529)aGc>aAc	p.S843N	FER1L6_ENST00000399018.1_Missense_Mutation_p.S843N|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	843	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.S843N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCAGCTGACAGCAATGGACTT	0.517																																					p.S843N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2528A	8						.						108.0	114.0	112.0					8																	125052186		2050	4199	6249	125121367	SO:0001583	missense	654463	exon20			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2528G>A	8.37:g.125052186G>A	ENSP00000428280:p.Ser843Asn	Somatic		Capture	Illumina HiSeq	Phase_I	125121367	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477720	0.44044	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.69685	-0.42;-0.42	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174121	0.49305	U	0.000142	T	0.52435	0.1734	N	0.21324	0.655	0.41843	D	0.99013	B	0.18461	0.028	B	0.19946	0.027	T	0.47711	-0.9096	10	0.27785	T	0.31	.	13.305	0.60347	0.0:0.2676:0.7324:0.0	.	843	Q2WGJ9	FR1L6_HUMAN	N	843	ENSP00000428280:S843N;ENSP00000381982:S843N	ENSP00000381982:S843N	S	+	2	0	FER1L6	125121367	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.365000	0.34182	2.637000	0.89404	0.563000	0.77884	AGC		0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125115506	125115506	+	Missense_Mutation	SNP	C	C	T	rs575370415		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125115506C>T	ENST00000522917.1	+	39	5451	c.5245C>T	c.(5245-5247)Cgt>Tgt	p.R1749C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1749C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1749						integral component of membrane (GO:0016021)		p.R1749C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGCAAAAACGTGTGCGTGG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20013	0.0		0.0	False		,,,				2504	0.001				p.R1749C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5245T	8						.						150.0	146.0	147.0					8																	125115506		1919	4135	6054	125184687	SO:0001583	missense	654463	exon39			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5245C>T	8.37:g.125115506C>T	ENSP00000428280:p.Arg1749Cys	Somatic		Capture	Illumina HiSeq	Phase_I	125184687	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988064	0.74589	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83250	-1.7;-1.7	5.58	4.65	0.58169	C2 calcium/lipid-binding domain, CaLB (1);	0.061573	0.64402	U	0.000010	D	0.90920	0.7146	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.91899	0.5530	10	0.72032	D	0.01	-14.5156	15.0707	0.72034	0.2329:0.7671:0.0:0.0	.	1749	Q2WGJ9	FR1L6_HUMAN	C	1749	ENSP00000428280:R1749C;ENSP00000381982:R1749C	ENSP00000381982:R1749C	R	+	1	0	FER1L6	125184687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.020000	0.57189	2.778000	0.95560	0.655000	0.94253	CGT		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TMEM65	157378	broad.mit.edu	37	8	125339608	125339608	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125339608A>C	ENST00000297632.6	-	3	938	c.404T>G	c.(403-405)aTt>aGt	p.I135S		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	135						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.I135S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACAATCATAATTGCATTATC	0.274																																					p.I135S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T404G	8						.						69.0	59.0	63.0					8																	125339608		2202	4297	6499	125408789	SO:0001583	missense	157378	exon3			BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.404T>G	8.37:g.125339608A>C	ENSP00000297632:p.Ile135Ser	Somatic		Capture	Illumina HiSeq	Phase_I	125408789	NM_194291	Q8N5G8|Q8WVK5	Missense_Mutation	SNP	ENST00000297632.6	37	CCDS6348.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129595	0.56721	.	.	ENSG00000164983	ENST00000297632	T	0.60171	0.21	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.88310	2.945	0.80722	D	1	B	0.29552	0.248	B	0.26202	0.067	T	0.69262	-0.5191	10	0.87932	D	0	.	15.1607	0.72782	1.0:0.0:0.0:0.0	.	135	Q6PI78	TMM65_HUMAN	S	135	ENSP00000297632:I135S	ENSP00000297632:I135S	I	-	2	0	TMEM65	125408789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.675000	0.84002	2.229000	0.72834	0.477000	0.44152	ATT		0.274	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291	
TRMT12	55039	broad.mit.edu	37	8	125464378	125464378	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125464378G>A	ENST00000328599.3	+	1	1331	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	404					tRNA processing (GO:0008033)		transferase activity (GO:0016740)	p.A404T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACTCGAATCGCCACTCTTCT	0.493																																					p.A404T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210A	8						.						53.0	45.0	48.0					8																	125464378		2203	4300	6503	125533559	SO:0001583	missense	55039	exon1			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.1210G>A	8.37:g.125464378G>A	ENSP00000329858:p.Ala404Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125533559	NM_017956	Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667207	0.29604	.	.	ENSG00000183665	ENST00000328599	T	0.22336	1.96	5.3	5.3	0.74995	.	0.782162	0.12109	N	0.498679	T	0.21674	0.0522	M	0.62723	1.935	0.25562	N	0.986986	B	0.23249	0.082	B	0.16289	0.015	T	0.16453	-1.0402	10	0.17832	T	0.49	-2.8113	10.2999	0.43646	0.0905:0.0:0.9095:0.0	.	404	Q53H54	TYW2_HUMAN	T	404	ENSP00000329858:A404T	ENSP00000329858:A404T	A	+	1	0	TRMT12	125533559	0.653000	0.27358	0.776000	0.31678	0.899000	0.52679	1.709000	0.37909	2.647000	0.89833	0.561000	0.74099	GCC		0.493	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956	
TATDN1	83940	broad.mit.edu	37	8	125499040	125499040	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125499040T>C	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.S384P|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.S384P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTCATGTGTCATCTTTTCG	0.398																																					p.S384P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1150C	8						.						401.0	385.0	390.0					8																	125499040		2203	4300	6503	125568221	SO:0001628	intergenic_variant	11236	exon2			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499040T>C		Somatic		Capture	Illumina HiSeq	Phase_I	125568221	NM_007218	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.788481	0.00628	.	.	ENSG00000170881	ENST00000303545	T	0.22945	1.93	5.25	4.07	0.47477	.	0.211104	0.42172	D	0.000747	T	0.10208	0.0250	N	0.10664	0.02	0.47862	D	0.999534	B	0.06786	0.001	B	0.09377	0.004	T	0.13980	-1.0489	10	0.05525	T	0.97	-12.2403	8.4555	0.32897	0.0:0.0703:0.1318:0.7978	.	384	Q8WU17	RN139_HUMAN	P	384	ENSP00000304051:S384P	ENSP00000304051:S384P	S	+	1	0	RNF139	125568221	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.652000	0.54439	0.904000	0.36572	-0.316000	0.08728	TCA		0.398	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
ZNF572	137209	broad.mit.edu	37	8	125989167	125989167	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125989167C>T	ENST00000319286.5	+	3	811	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P219P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACAAATGTCCCGAGTGTGGGA	0.463										HNSCC(60;0.17)																											p.P219P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C657T	8						.						71.0	72.0	72.0					8																	125989167		2203	4300	6503	126058348	SO:0001819	synonymous_variant	137209	exon3			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.657C>T	8.37:g.125989167C>T		Somatic		Capture	Illumina HiSeq	Phase_I	126058348	NM_152412	A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																				0.463	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
ZNF572	137209	broad.mit.edu	37	8	125989784	125989784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125989784C>T	ENST00000319286.5	+	3	1428	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S425F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTCAGAGTTCCACCCTGGTG	0.428										HNSCC(60;0.17)																											p.S425F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1274T	8						.						78.0	77.0	77.0					8																	125989784		2203	4300	6503	126058965	SO:0001583	missense	137209	exon3			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1274C>T	8.37:g.125989784C>T	ENSP00000319305:p.Ser425Phe	Somatic		Capture	Illumina HiSeq	Phase_I	126058965	NM_152412	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102040	0.56183	.	.	ENSG00000180938	ENST00000319286	T	0.37058	1.22	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000168	T	0.63628	0.2527	M	0.86028	2.79	0.29037	N	0.885317	D	0.76494	0.999	D	0.68765	0.96	T	0.64002	-0.6509	10	0.66056	D	0.02	-9.0358	16.2176	0.82239	0.0:1.0:0.0:0.0	.	425	Q7Z3I7	ZN572_HUMAN	F	425	ENSP00000319305:S425F	ENSP00000319305:S425F	S	+	2	0	ZNF572	126058965	0.069000	0.21087	1.000000	0.80357	0.995000	0.86356	2.336000	0.43938	2.692000	0.91855	0.655000	0.94253	TCC		0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
KIAA1456	57604	broad.mit.edu	37	8	12878856	12878856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:12878856G>T	ENST00000524591.2	+	5	1157	c.668G>T	c.(667-669)aGa>aTa	p.R223I	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	223							methyltransferase activity (GO:0008168)	p.R223I(1)|p.R136I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTATGGCAAGAACCTGTTTT	0.428																																					p.R97I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G290T	8						.						121.0	110.0	113.0					8																	12878856		1863	4110	5973	12923227	SO:0001583	missense	57604	exon2			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.668G>T	8.37:g.12878856G>T	ENSP00000432695:p.Arg223Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12923227	NM_001099677	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700704	0.30142	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.10860	2.83	5.67	3.79	0.43588	.	1.196990	0.06034	N	0.653696	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	0.999999	P	0.44877	0.845	B	0.38562	0.276	T	0.31308	-0.9948	10	0.25751	T	0.34	-2.6913	7.289	0.26356	0.1352:0.2694:0.5954:0.0	.	223	Q9P272	K1456_HUMAN	I	223;136	ENSP00000432695:R223I	ENSP00000432695:R223I	R	+	2	0	AC135352.2	12923227	0.002000	0.14202	0.023000	0.16930	0.479000	0.33129	1.185000	0.32065	0.794000	0.33899	0.650000	0.86243	AGA		0.428	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677	
DLC1	10395	broad.mit.edu	37	8	12943366	12943366	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:12943366G>A	ENST00000276297.4	-	18	4950	c.4541C>T	c.(4540-4542)tCc>tTc	p.S1514F	DLC1_ENST00000358919.2_Missense_Mutation_p.S1077F|DLC1_ENST00000520226.1_Missense_Mutation_p.S1003F|DLC1_ENST00000512044.2_Missense_Mutation_p.S1111F|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1514	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.S1514F(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTACTGAAGGAATCCCGGAT	0.433																																					p.S1514F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4541T	8						.						203.0	180.0	188.0					8																	12943366		2203	4300	6503	12987737	SO:0001583	missense	10395	exon18			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4541C>T	8.37:g.12943366G>A	ENSP00000276297:p.Ser1514Phe	Somatic		Capture	Illumina HiSeq	Phase_I	12987737	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938562	0.92526	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.17	5.17	0.71159	Lipid-binding START (2);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.975	T	0.53940	-0.8367	10	0.52906	T	0.07	.	19.24	0.93877	0.0:0.0:1.0:0.0	.	1514;1111;1077	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	1514;1077;453;1111;1003	ENSP00000276297:S1514F;ENSP00000351797:S1077F;ENSP00000422595:S1111F;ENSP00000428028:S1003F	ENSP00000276297:S1514F	S	-	2	0	DLC1	12987737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	TCC		0.433	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	12947955	12947955	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:12947955G>A	ENST00000276297.4	-	15	4289	c.3880C>T	c.(3880-3882)Cgt>Tgt	p.R1294C	DLC1_ENST00000358919.2_Missense_Mutation_p.R857C|DLC1_ENST00000520226.1_Missense_Mutation_p.R783C|DLC1_ENST00000512044.2_Missense_Mutation_p.R891C|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1294					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1294C(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TAGGAATTACGACATCGGCTC	0.512																																					p.R1294C												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C3880T	8						.						96.0	85.0	89.0					8																	12947955		2203	4300	6503	12992326	SO:0001583	missense	10395	exon15			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3880C>T	8.37:g.12947955G>A	ENSP00000276297:p.Arg1294Cys	Somatic		Capture	Illumina HiSeq	Phase_I	12992326	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041115	0.55003	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.07216	3.46;3.22;3.22;3.21	5.32	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.893;0.985;0.998	T	0.00366	-1.1786	10	0.42905	T	0.14	.	10.499	0.44794	0.069:0.0:0.7972:0.1337	.	1294;891;857	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1294;857;233;891;783	ENSP00000276297:R1294C;ENSP00000351797:R857C;ENSP00000422595:R891C;ENSP00000428028:R783C	ENSP00000276297:R1294C	R	-	1	0	DLC1	12992326	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.784000	0.62411	0.906000	0.36621	0.655000	0.94253	CGT		0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	12948898	12948898	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:12948898C>A	ENST00000276297.4	-	14	4193	c.3784G>T	c.(3784-3786)Gat>Tat	p.D1262Y	DLC1_ENST00000358919.2_Missense_Mutation_p.D825Y|DLC1_ENST00000520226.1_Missense_Mutation_p.D751Y|DLC1_ENST00000512044.2_Missense_Mutation_p.D859Y|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1262	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D1262Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCATTCAAATCTTTCTGATCT	0.398																																					p.D1262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3784T	8						.						117.0	125.0	122.0					8																	12948898		2203	4300	6503	12993269	SO:0001583	missense	10395	exon14			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3784G>T	8.37:g.12948898C>A	ENSP00000276297:p.Asp1262Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	12993269	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544828	0.86022	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.45	4.45	0.53987	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.986;0.993;0.995	T	0.76836	-0.2812	10	0.87932	D	0	.	17.7368	0.88396	0.0:1.0:0.0:0.0	.	1262;859;825	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Y	1262;825;201;859;751	ENSP00000276297:D1262Y;ENSP00000351797:D825Y;ENSP00000422595:D859Y;ENSP00000428028:D751Y	ENSP00000276297:D1262Y	D	-	1	0	DLC1	12993269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.648000	0.83479	2.503000	0.84419	0.650000	0.86243	GAT		0.398	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	12957878	12957878	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:12957878G>A	ENST00000276297.4	-	9	2377	c.1968C>T	c.(1966-1968)caC>caT	p.H656H	DLC1_ENST00000358919.2_Silent_p.H219H|DLC1_ENST00000520226.1_Silent_p.H145H|DLC1_ENST00000512044.2_Silent_p.H253H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	656					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H656H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGTTTTTTCGTGGCCTTTCA	0.557																																					p.H656H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1968T	8						.						118.0	108.0	112.0					8																	12957878		2203	4300	6503	13002249	SO:0001819	synonymous_variant	10395	exon9			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1968C>T	8.37:g.12957878G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13002249	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
KIAA0196	9897	broad.mit.edu	37	8	126069032	126069032	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:126069032A>C	ENST00000318410.7	-	16	2252	c.1903T>G	c.(1903-1905)Ttt>Gtt	p.F635V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.F487V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	635					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.F635V(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAGATGTAAACATGCTTTCT	0.423																																					p.F635V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1903G	8						.						172.0	159.0	163.0					8																	126069032		2203	4300	6503	126138214	SO:0001583	missense	9897	exon16				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1903T>G	8.37:g.126069032A>C	ENSP00000318016:p.Phe635Val	Somatic		Capture	Illumina HiSeq	Phase_I	126138214	NM_014846	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.445713|4.445713	0.84101|0.84101	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.94138	.|-3.36;-3.36	5.35|5.35	4.16|4.16	0.48862|0.48862	.|.	.|0.045517	.|0.85682	.|N	.|0.000000	D|D	0.96824|0.96824	0.8963|0.8963	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.002	.|D;B	.|0.91635	.|0.999;0.011	D|D	0.96838|0.96838	0.9616|0.9616	5|10	.|0.87932	.|D	.|0	-19.1555|-19.1555	12.4746|12.4746	0.55805|0.55805	0.86:0.14:0.0:0.0|0.86:0.14:0.0:0.0	.|.	.|487;635	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	W|V	251|635;487	.|ENSP00000318016:F635V;ENSP00000429676:F487V	.|ENSP00000318016:F635V	C|F	-|-	3|1	2|0	KIAA0196|KIAA0196	126138214|126138214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.283000|9.283000	0.95860|0.95860	0.914000|0.914000	0.36822|0.36822	0.533000|0.533000	0.62120|0.62120	TGT|TTT		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	
GSDMC	56169	broad.mit.edu	37	8	130765061	130765061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:130765061C>T	ENST00000276708.4	-	7	1608	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	243						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.E243K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						tcggaaatttcgtactcttgg	0.488																																					p.E243K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	8						.						149.0	129.0	135.0					8																	130765061		2203	4300	6503	130834243	SO:0001583	missense	56169	exon7			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.727G>A	8.37:g.130765061C>T	ENSP00000276708:p.Glu243Lys	Somatic		Capture	Illumina HiSeq	Phase_I	130834243	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.531241	0.00145	.	.	ENSG00000147697	ENST00000276708	T	0.09255	3.0	0.235	-0.47	0.12131	.	17.044500	0.00166	N	0.000000	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	9	0.06099	T	0.92	.	.	.	.	.	243	Q9BYG8	GSDMC_HUMAN	K	243	ENSP00000276708:E243K	ENSP00000276708:E243K	E	-	1	0	GSDMC	130834243	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.758000	0.04766	-0.748000	0.04753	-0.752000	0.03492	GAA		0.488	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
GSDMC	56169	broad.mit.edu	37	8	130788502	130788502	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:130788502T>C	ENST00000276708.4	-	3	1131	c.250A>G	c.(250-252)Agt>Ggt	p.S84G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	84						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.S84G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATAATGTCACTGAAGTGGAAC	0.458																																					p.S84G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250G	8						.						191.0	151.0	165.0					8																	130788502		2203	4300	6503	130857684	SO:0001583	missense	56169	exon3			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.250A>G	8.37:g.130788502T>C	ENSP00000276708:p.Ser84Gly	Somatic		Capture	Illumina HiSeq	Phase_I	130857684	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568247	0.28003	.	.	ENSG00000147697	ENST00000276708	T	0.23754	1.89	3.97	-7.95	0.01148	.	1.904680	0.02411	N	0.081685	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	P	0.48589	0.912	B	0.44315	0.446	T	0.34502	-0.9826	10	0.25106	T	0.35	.	1.95	0.03364	0.3591:0.087:0.3576:0.1963	.	84	Q9BYG8	GSDMC_HUMAN	G	84	ENSP00000276708:S84G	ENSP00000276708:S84G	S	-	1	0	GSDMC	130857684	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.533000	0.06157	-1.398000	0.02066	-2.034000	0.00421	AGT		0.458	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
FAM49B	51571	broad.mit.edu	37	8	130864485	130864485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:130864485G>A	ENST00000519824.2	-	8	829	c.556C>T	c.(556-558)Cga>Tga	p.R186*	FAM49B_ENST00000523509.1_Nonsense_Mutation_p.R186*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.R186*|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.R186*|FAM49B_ENST00000522250.1_Nonsense_Mutation_p.R40*|FAM49B_ENST00000522746.1_Nonsense_Mutation_p.R186*|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.R186*|FAM49B_ENST00000522941.1_Nonsense_Mutation_p.R40*|FAM49B_ENST00000401979.2_Nonsense_Mutation_p.R186*	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	186						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.R186*(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AAAGACATTCGATTTGCCAAT	0.368																																					p.R186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C556T	8						.						151.0	135.0	140.0					8																	130864485		2203	4300	6503	130933667	SO:0001587	stop_gained	51571	exon11			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.556C>T	8.37:g.130864485G>A	ENSP00000429150:p.Arg186*	Somatic		Capture	Illumina HiSeq	Phase_I	130933667	NM_016623	Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	ENST00000519824.2	37	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	40	8.013617	0.98610	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	.	.	.	5.98	5.98	0.97165	.	0.128121	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5919	12.9434	0.58359	0.0:0.0:0.7472:0.2528	.	.	.	.	X	186;186;186;186;40;186;186;186;40;140	.	ENSP00000311651:R140X	R	-	1	2	FAM49B	130933667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.283000	0.51701	2.835000	0.97688	0.650000	0.86243	CGA		0.368	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623	
ASAP1	50807	broad.mit.edu	37	8	131092165	131092165	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:131092165T>C	ENST00000518721.1	-	26	2852	c.2625A>G	c.(2623-2625)ggA>ggG	p.G875G	ASAP1_ENST00000357668.1_Silent_p.G875G	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	875	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G875G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCTGGGATAGTCCCTCAAACT	0.428																																					p.G875G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2625G	8						.						234.0	218.0	223.0					8																	131092165		2203	4300	6503	131161347	SO:0001819	synonymous_variant	50807	exon25			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2625A>G	8.37:g.131092165T>C		Somatic		Capture	Illumina HiSeq	Phase_I	131161347	NM_018482	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292896	0.23564	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.49	-6.97	0.01616	.	.	.	.	.	T	0.51466	0.1676	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56402	-0.7985	4	.	.	.	.	10.7315	0.46100	0.0:0.578:0.1166:0.3054	.	.	.	.	A	696;232	.	.	T	-	1	0	ASAP1	131161347	0.400000	0.25295	0.667000	0.29798	0.941000	0.58515	-0.713000	0.05007	-1.628000	0.01548	-0.274000	0.10170	ACT		0.428	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ASAP1	50807	broad.mit.edu	37	8	131127946	131127946	+	Silent	SNP	G	G	A	rs374565262		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:131127946G>A	ENST00000518721.1	-	23	2327	c.2100C>T	c.(2098-2100)caC>caT	p.H700H	ASAP1_ENST00000357668.1_Silent_p.H700H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	700					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.H700H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTACGTGGACGTGTGGATTGA	0.393																																					p.H700H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2100T	8						.	G		0,4406		0,0,2203	250.0	225.0	233.0		2100	-9.2	0.1	8		233	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASAP1	NM_018482.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		700/1130	131127946	1,13005	2203	4300	6503	131197128	SO:0001819	synonymous_variant	50807	exon22			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2100C>T	8.37:g.131127946G>A		Somatic		Capture	Illumina HiSeq	Phase_I	131197128	NM_018482	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	6.773	0.511463	0.12944	0.0	1.16E-4	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	4.93	-9.16	0.00694	.	.	.	.	.	T	0.64182	0.2575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73113	-0.4085	4	.	.	.	.	17.9718	0.89115	0.6301:0.0:0.3699:0.0	.	.	.	.	C	521;114	.	.	R	-	1	0	ASAP1	131197128	0.042000	0.20092	0.147000	0.22382	0.809000	0.45718	-0.809000	0.04510	-2.176000	0.00770	-0.956000	0.02647	CGT		0.393	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ADCY8	114	broad.mit.edu	37	8	132052058	132052058	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:132052058G>T	ENST00000286355.5	-	1	2614	c.522C>A	c.(520-522)ttC>ttA	p.F174L	ADCY8_ENST00000377928.3_Missense_Mutation_p.F174L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	174					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.F174L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGGCCCAAGAAATAGCGCT	0.547										HNSCC(32;0.087)																											p.F174L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C522A	8						.						75.0	75.0	75.0					8																	132052058		2203	4300	6503	132121240	SO:0001583	missense	114	exon1			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.522C>A	8.37:g.132052058G>T	ENSP00000286355:p.Phe174Leu	Somatic		Capture	Illumina HiSeq	Phase_I	132121240	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698777	0.48307	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.63096	-0.02;-0.02	5.25	3.46	0.39613	.	0.061993	0.64402	D	0.000003	T	0.48589	0.1508	L	0.48642	1.525	0.34286	D	0.682674	B;B	0.29037	0.231;0.231	B;B	0.21917	0.037;0.037	T	0.52087	-0.8622	10	0.11794	T	0.64	.	10.784	0.46395	0.1539:0.0:0.8461:0.0	.	174;174	E7EVL1;P40145	.;ADCY8_HUMAN	L	174	ENSP00000286355:F174L;ENSP00000367161:F174L	ENSP00000286355:F174L	F	-	3	2	ADCY8	132121240	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.362000	0.73077	0.623000	0.30267	-0.391000	0.06502	TTC		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
OC90	729330	broad.mit.edu	37	8	133045401	133045401	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133045401C>T	ENST00000443356.2	-	12	878	c.792G>A	c.(790-792)gaG>gaA	p.E264E	OC90_ENST00000262283.5_Silent_p.E460E|OC90_ENST00000254627.3_Silent_p.E248E|OC90_ENST00000603859.1_Silent_p.E248E			Q02509	OC90_HUMAN	otoconin 90	264					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E460E(1)|p.E222E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTGCAACTATCTCTGCAGATC	0.423																																					p.E248E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G744A	8						.						43.0	44.0	43.0					8																	133045401		1860	4104	5964	133114583	SO:0001819	synonymous_variant	729330	exon11			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.792G>A	8.37:g.133045401C>T		Somatic		Capture	Illumina HiSeq	Phase_I	133114583	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																					0.423	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
KCNQ3	3786	broad.mit.edu	37	8	133192428	133192428	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133192428G>A	ENST00000388996.4	-	4	1173	c.753C>T	c.(751-753)ggC>ggT	p.G251G	KCNQ3_ENST00000519445.1_Silent_p.G251G|KCNQ3_ENST00000521134.1_Silent_p.G131G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	251					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G251G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGATGGCTGAGCCCAGAAGCT	0.587																																					p.G251G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C753T	8						.						76.0	68.0	71.0					8																	133192428		2203	4300	6503	133261610	SO:0001819	synonymous_variant	3786	exon4			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.753C>T	8.37:g.133192428G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133261610	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
TMEM71	137835	broad.mit.edu	37	8	133740101	133740101	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133740101G>A	ENST00000356838.3	-	6	704	c.562C>T	c.(562-564)Ctt>Ttt	p.L188F	TMEM71_ENST00000523829.1_Missense_Mutation_p.L207F|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	207						integral component of membrane (GO:0016021)		p.L188F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGGACTGAAGAGACAAGCTA	0.463																																					p.L188F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562T	8						.						140.0	134.0	136.0					8																	133740101		2203	4300	6503	133809283	SO:0001583	missense	137835	exon6			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.562C>T	8.37:g.133740101G>A	ENSP00000349296:p.Leu188Phe	Somatic		Capture	Illumina HiSeq	Phase_I	133809283	NM_144649	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924995	0.34002	.	.	ENSG00000165071	ENST00000523829;ENST00000356838	.	.	.	6.02	5.14	0.70334	.	0.747880	0.12360	N	0.475738	T	0.57388	0.2050	L	0.57536	1.79	0.29350	N	0.865407	P;P	0.48589	0.912;0.912	P;P	0.54759	0.76;0.654	T	0.50583	-0.8811	9	0.34782	T	0.22	-1.3793	11.5747	0.50854	0.0834:0.0:0.9166:0.0	.	207;188	Q6P5X7;Q6P5X7-2	TMM71_HUMAN;.	F	207;188	.	ENSP00000349296:L188F	L	-	1	0	TMEM71	133809283	0.004000	0.15560	0.010000	0.14722	0.016000	0.09150	0.880000	0.28159	2.865000	0.98341	0.655000	0.94253	CTT		0.463	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649	
PHF20L1	51105	broad.mit.edu	37	8	133806824	133806824	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133806824C>A	ENST00000395386.2	+	3	551	c.252C>A	c.(250-252)ttC>ttA	p.F84L	PHF20L1_ENST00000337920.4_Missense_Mutation_p.F84L|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F84L|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F84L|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F84L|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	84							zinc ion binding (GO:0008270)	p.F84L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGGAAGATTTCTTTGTAAGTA	0.353																																					p.F84L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C252A	8						.						93.0	87.0	89.0					8																	133806824		2203	4300	6503	133876006	SO:0001583	missense	51105	exon3			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.252C>A	8.37:g.133806824C>A	ENSP00000378784:p.Phe84Leu	Somatic		Capture	Illumina HiSeq	Phase_I	133876006	NM_032205	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	8.692	0.907575	0.17833	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T	0.42900	0.96;1.0;1.02;1.59;0.96;1.02;1.0;1.6	5.91	2.08	0.27032	.	0.441905	0.27917	N	0.017326	T	0.17238	0.0414	N	0.04508	-0.205	0.58432	D	0.999998	B;B;B;B;B	0.09022	0.001;0.0;0.002;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.001;0.004;0.0;0.0	T	0.06991	-1.0796	10	0.10636	T	0.68	-14.7273	9.4188	0.38539	0.0:0.664:0.0:0.336	.	84;84;84;84;84	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	L	84;84;84;84;84;84;84;42;84	ENSP00000378781:F84L;ENSP00000378777:F84L;ENSP00000355301:F84L;ENSP00000378784:F84L;ENSP00000324519:F84L;ENSP00000338269:F84L;ENSP00000378775:F84L;ENSP00000378788:F84L	ENSP00000324519:F84L	F	+	3	2	PHF20L1	133876006	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.452000	0.21795	0.821000	0.34540	0.650000	0.86243	TTC		0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
PHF20L1	51105	broad.mit.edu	37	8	133854770	133854770	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133854770C>A	ENST00000395386.2	+	19	2697	c.2398C>A	c.(2398-2400)Cat>Aat	p.H800N	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.H187N|PHF20L1_ENST00000395390.2_Missense_Mutation_p.H775N|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	800							zinc ion binding (GO:0008270)	p.H774N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATAAACATCATCCTGACCT	0.348																																					p.H800N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2398A	8						.						70.0	64.0	66.0					8																	133854770		1811	4069	5880	133923952	SO:0001583	missense	51105	exon19			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2398C>A	8.37:g.133854770C>A	ENSP00000378784:p.His800Asn	Somatic		Capture	Illumina HiSeq	Phase_I	133923952	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286421	0.40494	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.52983	0.68;0.64	5.11	5.11	0.69529	.	0.762736	0.11554	U	0.552469	T	0.48447	0.1500	L	0.49778	1.585	0.37535	D	0.918099	B;B	0.28178	0.202;0.128	B;B	0.27887	0.084;0.039	T	0.51849	-0.8653	10	0.56958	D	0.05	-15.856	17.883	0.88846	0.0:1.0:0.0:0.0	.	775;800	F8W9L8;A8MW92	.;P20L1_HUMAN	N	800;187;775	ENSP00000378784:H800N;ENSP00000378788:H775N	ENSP00000220847:H187N	H	+	1	0	PHF20L1	133923952	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.107000	0.57811	2.539000	0.85634	0.650000	0.86243	CAT		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
TG	7038	broad.mit.edu	37	8	133899598	133899598	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133899598G>T	ENST00000220616.4	+	9	2021	c.1981G>T	c.(1981-1983)Gac>Tac	p.D661Y	TG_ENST00000377869.1_Missense_Mutation_p.D661Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	661	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.D661Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCCCCACAGACTGTGAAAA	0.552																																					p.D661Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1981T	8						.						61.0	55.0	57.0					8																	133899598		2203	4300	6503	133968780	SO:0001583	missense	7038	exon9			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1981G>T	8.37:g.133899598G>T	ENSP00000220616:p.Asp661Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	133968780	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631906	0.29068	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62105	0.05;0.05	5.56	2.71	0.32032	Thyroglobulin type-1 (4);	0.658618	0.14527	N	0.314135	T	0.55986	0.1955	M	0.71036	2.16	0.09310	N	1	P	0.44195	0.828	B	0.38921	0.285	T	0.53078	-0.8489	10	0.72032	D	0.01	.	5.2522	0.15529	0.24:0.1488:0.6112:0.0	.	661	P01266	THYG_HUMAN	Y	661	ENSP00000367100:D661Y;ENSP00000220616:D661Y	ENSP00000220616:D661Y	D	+	1	0	TG	133968780	0.000000	0.05858	0.324000	0.25361	0.968000	0.65278	0.274000	0.18680	0.264000	0.21851	0.655000	0.94253	GAC		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DLC1	10395	broad.mit.edu	37	8	13356915	13356915	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:13356915C>A	ENST00000276297.4	-	2	1075	c.666G>T	c.(664-666)gaG>gaT	p.E222D	DLC1_ENST00000511869.1_Missense_Mutation_p.E222D|DLC1_ENST00000316609.5_Missense_Mutation_p.E222D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	222					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E222D(4)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAATTGTTTCTCAGGTGCAA	0.388																																					p.E222D												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G666T	8						.						153.0	150.0	151.0					8																	13356915		2203	4300	6503	13401286	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.666G>T	8.37:g.13356915C>A	ENSP00000276297:p.Glu222Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13401286	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897491	0.33535	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.15834	3.35;2.39;2.41	4.84	2.99	0.34606	.	0.000000	0.41500	D	0.000866	T	0.28400	0.0702	L	0.54323	1.7	0.27104	N	0.962555	D;D;P	0.76494	0.997;0.999;0.849	D;D;B	0.68353	0.957;0.945;0.237	T	0.03524	-1.1028	10	0.28530	T	0.3	.	6.8222	0.23862	0.0:0.6827:0.1477:0.1696	.	222;222;222	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	D	222	ENSP00000276297:E222D;ENSP00000321034:E222D;ENSP00000425878:E222D	ENSP00000276297:E222D	E	-	3	2	DLC1	13401286	1.000000	0.71417	0.994000	0.49952	0.170000	0.22686	0.642000	0.24735	1.342000	0.45619	0.655000	0.94253	GAG		0.388	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	13357064	13357064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:13357064C>A	ENST00000276297.4	-	2	926	c.517G>T	c.(517-519)Gca>Tca	p.A173S	DLC1_ENST00000511869.1_Missense_Mutation_p.A173S|DLC1_ENST00000316609.5_Missense_Mutation_p.A173S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	173					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.A173S(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACCAGTGCTAATTCAGTT	0.403																																					p.A173S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G517T	8						.						124.0	129.0	128.0					8																	13357064		2202	4299	6501	13401435	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.517G>T	8.37:g.13357064C>A	ENSP00000276297:p.Ala173Ser	Somatic		Capture	Illumina HiSeq	Phase_I	13401435	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.854579	0.00558	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29397	1.57;1.57;1.57	4.97	-0.173	0.13322	.	0.731670	0.11770	N	0.531220	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.002;0.023;0.001	B;B;B	0.17722	0.008;0.019;0.001	T	0.28490	-1.0042	10	0.27785	T	0.31	.	5.372	0.16144	0.487:0.3081:0.0:0.2049	.	173;173;173	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	S	173	ENSP00000276297:A173S;ENSP00000321034:A173S;ENSP00000425878:A173S	ENSP00000276297:A173S	A	-	1	0	DLC1	13401435	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.931000	0.03967	-0.135000	0.11495	-0.783000	0.03347	GCA		0.403	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TG	7038	broad.mit.edu	37	8	133931738	133931738	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:133931738C>A	ENST00000220616.4	+	21	4536	c.4496C>A	c.(4495-4497)aCc>aAc	p.T1499N	TG_ENST00000377869.1_Missense_Mutation_p.T1499N|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1499					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.T1499N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAGAACGACCATTTCTGCT	0.493																																					p.T1499N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4496A	8						.						152.0	120.0	131.0					8																	133931738		2203	4300	6503	134000920	SO:0001583	missense	7038	exon21			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4496C>A	8.37:g.133931738C>A	ENSP00000220616:p.Thr1499Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134000920	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.141906|2.141906	0.37825|0.37825	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616	.|T;T	.|0.60040	.|0.22;0.22	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Tyrosine-protein kinase ephrin type A/B receptor-like (1);	.|0.000000	.|0.56097	.|D	.|0.000021	T|T	0.78059|0.78059	0.4224|0.4224	M|M	0.84433|0.84433	2.695|2.695	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	T|T	0.72360|0.72360	-0.4317|-0.4317	5|10	.|0.87932	.|D	.|0	.|.	14.999|14.999	0.71455|0.71455	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1499	.|P01266	.|THYG_HUMAN	E|N	18|1499;305;1499	.|ENSP00000367100:T1499N;ENSP00000220616:T1499N	.|ENSP00000220616:T1499N	D|T	+|+	3|2	2|0	TG|TG	134000920|134000920	0.993000|0.993000	0.37304|0.37304	0.075000|0.075000	0.20258|0.20258	0.070000|0.070000	0.16714|0.16714	4.962000|4.962000	0.63687|0.63687	2.688000|2.688000	0.91661|0.91661	0.561000|0.561000	0.74099|0.74099	GAC|ACC		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
SLA	6503	broad.mit.edu	37	8	134050854	134050854	+	Missense_Mutation	SNP	C	C	T	rs200951688		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:134050854C>T	ENST00000338087.5	-	9	1565	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.R266Q|SLA_ENST00000427060.2_Missense_Mutation_p.R289Q|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.R141Q|SLA_ENST00000517648.1_Missense_Mutation_p.R222Q	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	249	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.R249Q(1)|p.R289Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTTCTTTCGATCAAAGGA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18830	0.0		0.001	False		,,,				2504	0.0				p.R249Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G746A	8						.	C	GLN/ARG,GLN/ARG,GLN/ARG,	0,4406		0,0,2203	217.0	187.0	197.0		746,797,866,	5.9	0.2	8		197	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,intron	SLA,TG	NM_001045556.2,NM_001045557.2,NM_006748.3,NM_003235.4	43,43,43,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,	249/277,266/294,289/317,	134050854	4,13002	2203	4300	6503	134120036	SO:0001583	missense	6503	exon9				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.746G>A	8.37:g.134050854C>T	ENSP00000337548:p.Arg249Gln	Somatic		Capture	Illumina HiSeq	Phase_I	134120036	NM_001045556	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.10	2.732686	0.48939	0.0	4.65E-4	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.81163	-1.46;-1.45;-1.43;0.83;1.95	5.92	5.92	0.95590	.	0.108147	0.64402	D	0.000010	D	0.84593	0.5506	L	0.60455	1.87	0.26235	N	0.978957	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	P;P;P;P	0.58970	0.849;0.75;0.75;0.75	T	0.78280	-0.2265	10	0.40728	T	0.16	-24.2154	12.2568	0.54629	0.0:0.9224:0.0:0.0776	.	222;249;249;249	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	Q	249;289;266;141;222	ENSP00000337548:R249Q;ENSP00000394049:R289Q;ENSP00000378759:R266Q;ENSP00000427928:R141Q;ENSP00000428559:R222Q	ENSP00000337548:R249Q	R	-	2	0	SLA	134120036	0.229000	0.23729	0.184000	0.23157	0.032000	0.12392	2.422000	0.44696	2.805000	0.96524	0.655000	0.94253	CGA		0.493	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1		
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Splice_Site	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.F203F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.632																																					p.F203F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	8						.						23.0	21.0	22.0					8																	134233083		2183	4282	6465	134302265	SO:0001630	splice_region_variant	8840	exon3			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.610+1C>T	8.37:g.134233083C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134302265	NM_003882	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	CCDS6371.1																																																																																				0.632	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	Silent
ZFAT	57623	broad.mit.edu	37	8	135649906	135649906	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:135649906C>A	ENST00000377838.3	-	3	420	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ZFAT_ENST00000523399.1_Missense_Mutation_p.K82N|ZFAT_ENST00000520214.1_Missense_Mutation_p.K70N|ZFAT_ENST00000429442.2_Missense_Mutation_p.K70N|ZFAT_ENST00000520356.1_Missense_Mutation_p.K70N|ZFAT_ENST00000520727.1_Missense_Mutation_p.K70N	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	82					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K82N(1)|p.K70N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTGGACTTCTTCGTGGACC	0.562																																					p.K82N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G246T	8						.						128.0	125.0	126.0					8																	135649906		2096	4234	6330	135719088	SO:0001583	missense	57623	exon3			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.246G>T	8.37:g.135649906C>A	ENSP00000367069:p.Lys82Asn	Somatic		Capture	Illumina HiSeq	Phase_I	135719088	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905479	0.72868	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.62788	2.57;2.49;2.49;2.49;2.49;2.41;0.0;1.0	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	L	0.34521	1.04	0.54753	D	0.99998	D;D;D;D	0.89917	0.998;0.986;1.0;0.998	D;P;D;D	0.87578	0.991;0.674;0.998;0.991	T	0.73512	-0.3959	10	0.54805	T	0.06	-33.9215	17.4683	0.87639	0.0:1.0:0.0:0.0	.	82;70;70;82	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	N	70;70;70;82;70;70;82;70;20;70	ENSP00000427879:K70N;ENSP00000427831:K70N;ENSP00000394501:K70N;ENSP00000367069:K82N;ENSP00000428483:K70N;ENSP00000429091:K82N;ENSP00000429983:K20N;ENSP00000428192:K70N	ENSP00000326997:K70N	K	-	3	2	ZFAT	135719088	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	1.571000	0.36450	2.367000	0.80283	0.561000	0.74099	AAG		0.562	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
COL22A1	169044	broad.mit.edu	37	8	139606391	139606391	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:139606391G>T	ENST00000303045.6	-	63	4930	c.4484C>A	c.(4483-4485)tCt>tAt	p.S1495Y	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.S1475Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1495	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S1495Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGCCTTGAGATGACTTCAT	0.617										HNSCC(7;0.00092)																											p.S1495Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4484A	8						.						37.0	42.0	41.0					8																	139606391		2203	4300	6503	139675573	SO:0001583	missense	169044	exon63			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4484C>A	8.37:g.139606391G>T	ENSP00000303153:p.Ser1495Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	139675573	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408644	0.62399	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93953	-3.32;-3.32	5.92	5.92	0.95590	.	0.135539	0.33691	N	0.004658	D	0.94122	0.8115	N	0.24115	0.695	0.39604	D	0.969782	D;D	0.67145	0.996;0.996	D;D	0.74348	0.983;0.93	D	0.94114	0.7373	10	0.42905	T	0.14	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1475;1495	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Y	1495;1475;1188	ENSP00000303153:S1495Y;ENSP00000387655:S1475Y	ENSP00000303153:S1495Y	S	-	2	0	COL22A1	139675573	0.999000	0.42202	0.993000	0.49108	0.876000	0.50452	6.264000	0.72527	2.820000	0.97059	0.650000	0.86243	TCT		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139626137	139626137	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:139626137C>A	ENST00000303045.6	-	56	4397	c.3951G>T	c.(3949-3951)caG>caT	p.Q1317H	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1297H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1317	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q1317H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGGGGACCCTGTGGCCCAG	0.473										HNSCC(7;0.00092)																											p.Q1317H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3951T	8						.						120.0	127.0	125.0					8																	139626137		2203	4300	6503	139695319	SO:0001583	missense	169044	exon56			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3951G>T	8.37:g.139626137C>A	ENSP00000303153:p.Gln1317His	Somatic		Capture	Illumina HiSeq	Phase_I	139695319	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517485	0.44763	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.75	2.78	0.32641	.	0.141450	0.32081	N	0.006616	D	0.95271	0.8466	M	0.84773	2.715	0.33522	D	0.592537	P;D	0.61697	0.63;0.99	B;P	0.62298	0.401;0.9	D	0.94998	0.8140	10	0.56958	D	0.05	.	5.705	0.17903	0.0:0.7544:0.0:0.2456	.	1297;1317	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	1317;1297;1010	ENSP00000303153:Q1317H;ENSP00000387655:Q1297H	ENSP00000303153:Q1317H	Q	-	3	2	COL22A1	139695319	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.477000	0.22196	1.210000	0.43336	0.555000	0.69702	CAG		0.473	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
SGCZ	137868	broad.mit.edu	37	8	14095139	14095139	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:14095139C>A	ENST00000382080.1	-	4	1101	c.386G>T	c.(385-387)aGa>aTa	p.R129I	SGCZ_ENST00000421524.2_Missense_Mutation_p.R82I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	116					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R129I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGTGATTTCTTGCATTCAC	0.388																																					p.R129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G386T	8						.						350.0	336.0	340.0					8																	14095139		2203	4300	6503	14139510	SO:0001583	missense	137868	exon4			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.386G>T	8.37:g.14095139C>A	ENSP00000371512:p.Arg129Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14139510	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	c	19.65	3.867254	0.72065	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.95724	-3.79;-3.79	5.39	5.39	0.77823	.	0.089576	0.64402	D	0.000001	D	0.96150	0.8745	M	0.83774	2.66	0.80722	D	1	P;P	0.41748	0.761;0.717	B;B	0.44278	0.445;0.239	D	0.95505	0.8581	10	0.36615	T	0.2	.	18.5837	0.91181	0.0:1.0:0.0:0.0	.	82;129	Q08AT0;Q96LD1-2	.;.	I	129;82	ENSP00000371512:R129I;ENSP00000405224:R82I	ENSP00000371512:R129I	R	-	2	0	SGCZ	14139510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.935000	0.75886	2.708000	0.92522	0.585000	0.79938	AGA		0.388	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
COL22A1	169044	broad.mit.edu	37	8	139658922	139658922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:139658922C>A	ENST00000303045.6	-	47	3897	c.3451G>T	c.(3451-3453)Gag>Tag	p.E1151*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E1131*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1151	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E1151*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCCAGCCTCTCCCTGTATC	0.507										HNSCC(7;0.00092)																											p.E1151X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3451T	8						.						24.0	23.0	24.0					8																	139658922		2203	4299	6502	139728104	SO:0001587	stop_gained	169044	exon47			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3451G>T	8.37:g.139658922C>A	ENSP00000303153:p.Glu1151*	Somatic		Capture	Illumina HiSeq	Phase_I	139728104	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	43	10.163497	0.99350	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.46	4.57	0.56435	.	0.247523	0.27821	N	0.017717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.5968	0.50979	0.0:0.9132:0.0:0.0868	.	.	.	.	X	1151;1131;844	.	ENSP00000303153:E1151X	E	-	1	0	COL22A1	139728104	0.988000	0.35896	0.999000	0.59377	0.037000	0.13140	2.006000	0.40874	2.713000	0.92767	0.655000	0.94253	GAG		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
TRAPPC9	83696	broad.mit.edu	37	8	141415692	141415692	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:141415692A>C	ENST00000438773.2	-	6	1125	c.992T>G	c.(991-993)aTt>aGt	p.I331S	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.I322S|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.I429S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	331					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I429S(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTAATAGGAAATCGCCTCTTT	0.398																																					p.I429S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1286G	8						.						148.0	127.0	134.0					8																	141415692		2203	4300	6503	141484874	SO:0001583	missense	83696	exon6			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.992T>G	8.37:g.141415692A>C	ENSP00000405060:p.Ile331Ser	Somatic		Capture	Illumina HiSeq	Phase_I	141484874	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.938274|3.938274	0.73557|0.73557	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.7|5.7	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75554|0.75554	0.3865|0.3865	M|M	0.71036|0.71036	2.16|2.16	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D;D	.|0.89917	.|1.0;0.997;0.995	.|D;D;D	.|0.77004	.|0.989;0.966;0.933	T|T	0.75581|0.75581	-0.3268|-0.3268	5|9	.|0.51188	.|T	.|0.08	.|.	10.7956|10.7956	0.46459|0.46459	0.9246:0.0:0.0754:0.0|0.9246:0.0:0.0754:0.0	.|.	.|331;322;429	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	E|S	174|429;322;331	.|.	.|ENSP00000373978:I322S	D|I	-|-	3|2	2|0	TRAPPC9|TRAPPC9	141484874|141484874	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.948000|0.948000	0.59901|0.59901	8.208000|8.208000	0.89748|0.89748	0.997000|0.997000	0.38969|0.38969	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
PTK2	5747	broad.mit.edu	37	8	141889730	141889730	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:141889730T>C	ENST00000522684.1	-	4	431	c.202A>G	c.(202-204)Att>Gtt	p.I68V	PTK2_ENST00000520892.1_Missense_Mutation_p.I68V|PTK2_ENST00000535192.1_Missense_Mutation_p.I68V|PTK2_ENST00000517887.1_Missense_Mutation_p.I112V|PTK2_ENST00000519419.1_Missense_Mutation_p.I112V|PTK2_ENST00000340930.3_Missense_Mutation_p.I68V|PTK2_ENST00000395218.2_Missense_Mutation_p.I68V|PTK2_ENST00000521059.1_Missense_Mutation_p.I68V|PTK2_ENST00000519881.1_Missense_Mutation_p.I68V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	68	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.I90V(1)|p.I68V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCTTCTGAATGATGCCCTAA	0.383																																					p.I68V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A202G	8						.						227.0	220.0	222.0					8																	141889730		2203	4300	6503	141958912	SO:0001583	missense	5747	exon4			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.202A>G	8.37:g.141889730T>C	ENSP00000429911:p.Ile68Val	Somatic		Capture	Illumina HiSeq	Phase_I	141958912	NM_153831	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.353685|4.353685	0.82243|0.82243	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395	.|T;T;T;T;T;T;T	.|0.80909	.|-1.37;-1.31;-1.43;-1.37;-1.37;-1.37;-1.43	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Band 4.1 domain (1);FERM domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89008|0.89008	0.6593|0.6593	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.67145	.|0.898;0.979;0.996;0.849	.|D;D;D;P	.|0.79108	.|0.929;0.953;0.992;0.858	D|D	0.90084|0.90084	0.4172|0.4172	5|10	.|0.62326	.|D	.|0.03	.|.	15.4516|15.4516	0.75277|0.75277	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|68;68;90;68	.|B4E2N6;Q05397;Q658W2;Q8IYN9	.|.;FAK1_HUMAN;.;.	R|V	78|68;68;112;68;68;68;112;68;68;68;68;68;68;68;68	.|ENSP00000429911:I68V;ENSP00000438009:I68V;ENSP00000429082:I112V;ENSP00000429474:I68V;ENSP00000378644:I68V;ENSP00000341189:I68V;ENSP00000429129:I112V	.|ENSP00000341189:I68V	H|I	-|-	2|1	0|0	PTK2|PTK2	141958912|141958912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.321000|7.321000	0.79088|0.79088	2.104000|2.104000	0.64026|0.64026	0.528000|0.528000	0.53228|0.53228	CAT|ATT		0.383	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	
DENND3	22898	broad.mit.edu	37	8	142178139	142178139	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:142178139A>C	ENST00000262585.2	+	13	1828	c.1550A>C	c.(1549-1551)aAg>aCg	p.K517T	DENND3_ENST00000424248.1_Missense_Mutation_p.K465T|DENND3_ENST00000519811.1_Missense_Mutation_p.K597T	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	517					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K517T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TATACATTCAAGATTCCCGAA	0.522																																					p.K517T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1550C	8						.						117.0	117.0	117.0					8																	142178139		2203	4300	6503	142247321	SO:0001583	missense	22898	exon13			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1550A>C	8.37:g.142178139A>C	ENSP00000262585:p.Lys517Thr	Somatic		Capture	Illumina HiSeq	Phase_I	142247321	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.85|15.85	2.954120|2.954120	0.53293|0.53293	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.16597|.	2.81;2.33;2.8|.	5.25|5.25	4.1|4.1	0.47936|0.47936	.|.	0.606362|.	0.18038|.	N|.	0.153707|.	T|T	0.56920|0.56920	0.2018|0.2018	M|M	0.73598|0.73598	2.24|2.24	0.26353|0.26353	N|N	0.977174|0.977174	D;D;D|.	0.63046|.	0.986;0.992;0.986|.	P;P;P|.	0.58660|.	0.776;0.843;0.701|.	T|T	0.50021|0.50021	-0.8876|-0.8876	10|5	0.51188|.	T|.	0.08|.	-5.0763|-5.0763	10.7752|10.7752	0.46346|0.46346	0.9254:0.0:0.0746:0.0|0.9254:0.0:0.0746:0.0	.|.	597;465;517|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	T|H	517;465;597|521	ENSP00000262585:K517T;ENSP00000410594:K465T;ENSP00000428714:K597T|.	ENSP00000262585:K517T|.	K|Q	+|+	2|3	0|2	DENND3|DENND3	142247321|142247321	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.385000|0.385000	0.30292|0.30292	2.050000|2.050000	0.41297|0.41297	0.859000|0.859000	0.35456|0.35456	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
SLC45A4	57210	broad.mit.edu	37	8	142221695	142221695	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:142221695G>T	ENST00000024061.3	-	8	2550	c.2243C>A	c.(2242-2244)tCt>tAt	p.S748Y	SLC45A4_ENST00000433583.2_Missense_Mutation_p.F743L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.F801L|SLC45A4_ENST00000519067.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.S748Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTGTGGAAAAGAAAATTTTTT	0.458																																					p.S748Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2243A	8						.						44.0	54.0	50.0					8																	142221695		2202	4299	6501	142290877	SO:0001583	missense	57210	exon8			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2243C>A	8.37:g.142221695G>T	ENSP00000024061:p.Ser748Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	142290877	NM_001080431	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.97|12.97	2.096368|2.096368	0.36952|0.36952	.|.	.|.	ENSG00000022567|ENSG00000022567	ENST00000517878;ENST00000433583|ENST00000024061	T;T|T	0.13420|0.17054	2.59;2.59|2.3	3.44|3.44	-2.42|-2.42	0.06542|0.06542	.|.	.|10.414400	.|0.00520	.|N	.|0.000193	T|T	0.14874|0.14874	0.0359|0.0359	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.20261|0.22983	0.043|0.078	B|B	0.14578|0.19391	0.011|0.025	T|T	0.41215|0.41215	-0.9521|-0.9521	8|9	0.87932|0.87932	D|D	0|0	.|.	9.6801|9.6801	0.40065|0.40065	0.2845:0.0:0.7155:0.0|0.2845:0.0:0.7155:0.0	.|.	801|748	E7EV90|Q5BKX6-3	.|.	L|Y	801;743|748	ENSP00000428137:F801L;ENSP00000400799:F743L|ENSP00000024061:S748Y	ENSP00000400799:F743L|ENSP00000024061:S748Y	F|S	-|-	3|2	2|0	SLC45A4|SLC45A4	142290877|142290877	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-1.312000|-1.312000	0.02720|0.02720	-0.463000|-0.463000	0.06973|0.06973	-0.320000|-0.320000	0.08662|0.08662	TTC|TCT		0.458	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
CYP11B2	1585	broad.mit.edu	37	8	143999232	143999232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:143999232C>T	ENST00000323110.2	-	1	27	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	9					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.V9M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCCACGCACACCTCTGCCTTT	0.607									Familial Hyperaldosteronism type I																												p.V9M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	8						.						106.0	108.0	107.0					8																	143999232		2203	4300	6503	143996234	SO:0001583	missense	1585	exon1	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.25G>A	8.37:g.143999232C>T	ENSP00000325822:p.Val9Met	Somatic		Capture	Illumina HiSeq	Phase_I	143996234	NM_000498	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	9.733	1.162780	0.21538	.	.	ENSG00000179142	ENST00000323110	T	0.76316	-1.01	2.94	1.05	0.20165	.	.	.	.	.	T	0.68091	0.2963	L	0.50333	1.59	0.09310	N	1	B	0.24882	0.113	B	0.20184	0.028	T	0.59080	-0.7521	9	0.59425	D	0.04	.	5.4026	0.16305	0.0:0.7204:0.0:0.2796	.	9	P19099	C11B2_HUMAN	M	9	ENSP00000325822:V9M	ENSP00000325822:V9M	V	-	1	0	CYP11B2	143996234	0.002000	0.14202	0.002000	0.10522	0.009000	0.06853	1.691000	0.37721	0.265000	0.21872	0.655000	0.94253	GTG		0.607	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
TOP1MT	116447	broad.mit.edu	37	8	144407663	144407663	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:144407663C>A	ENST00000329245.4	-	5	558	c.524G>T	c.(523-525)gGc>gTc	p.G175V	TOP1MT_ENST00000519148.1_Missense_Mutation_p.G77V|TOP1MT_ENST00000521193.1_Missense_Mutation_p.G77V|TOP1MT_ENST00000523676.1_Missense_Mutation_p.G77V	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	175					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.G175V(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AATACAGTAGCCGAACTCTTG	0.463																																					p.G175V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524T	8						.						125.0	127.0	126.0					8																	144407663		2203	4300	6503	144479038	SO:0001583	missense	116447	exon5			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.524G>T	8.37:g.144407663C>A	ENSP00000328835:p.Gly175Val	Somatic		Capture	Illumina HiSeq	Phase_I	144479038	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706276	0.48412	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	3.25	2.33	0.28932	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.47093	U	0.000258	T	0.65123	0.2661	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68622	-0.5360	10	0.51188	T	0.08	.	9.6785	0.40056	0.0:0.8898:0.0:0.1102	.	175	Q969P6	TOP1M_HUMAN	V	175;77;77;77;77;77	ENSP00000328835:G175V;ENSP00000428369:G77V;ENSP00000429169:G77V;ENSP00000429181:G77V;ENSP00000427998:G77V;ENSP00000429177:G77V	ENSP00000328835:G175V	G	-	2	0	TOP1MT	144479038	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	6.491000	0.73649	1.330000	0.45394	0.609000	0.83330	GGC		0.463	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	
GPAA1	8733	broad.mit.edu	37	8	145138862	145138862	+	Missense_Mutation	SNP	G	G	T	rs530359837		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:145138862G>T	ENST00000355091.4	+	5	656	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	GPAA1_ENST00000361036.6_Missense_Mutation_p.D119Y|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	179					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.D179Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGGGCCAAAGATATCGTCTT	0.562																																					p.D179Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535T	8						.						111.0	116.0	115.0					8																	145138862		2074	4209	6283	145210850	SO:0001583	missense	8733	exon5			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.535G>T	8.37:g.145138862G>T	ENSP00000347206:p.Asp179Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	145210850	NM_003801	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440408	0.83993	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87393	0.2364	9	0.87932	D	0	-29.7351	17.1464	0.86767	0.0:0.0:1.0:0.0	.	179;119	O43292;O43292-2	GPAA1_HUMAN;.	Y	179;107;119	.	ENSP00000347206:D179Y	D	+	1	0	GPAA1	145210850	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.922000	0.92789	2.647000	0.89833	0.561000	0.74099	GAT		0.562	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
ZNF251	90987	broad.mit.edu	37	8	145947053	145947053	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:145947053C>A	ENST00000292562.7	-	5	2267	c.1992G>T	c.(1990-1992)aaG>aaT	p.K664N	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	664					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)	p.K621N(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTGGAAAATCTTCTTGATAT	0.358																																					p.K664N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1992T	8						.						45.0	45.0	45.0					8																	145947053		1908	4122	6030	145917862	SO:0001583	missense	90987	exon5			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1992G>T	8.37:g.145947053C>A	ENSP00000292562:p.Lys664Asn	Somatic		Capture	Illumina HiSeq	Phase_I	145917862	NM_138367	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.225621	0.01530	.	.	ENSG00000198169	ENST00000292562	T	0.13196	2.61	2.7	-0.955	0.10356	.	.	.	.	.	T	0.03477	0.0100	N	0.01522	-0.82	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45086	-0.9285	9	0.06891	T	0.86	.	6.5887	0.22634	0.4499:0.4006:0.1495:0.0	.	664	Q9BRH9	ZN251_HUMAN	N	664	ENSP00000292562:K664N	ENSP00000292562:K664N	K	-	3	2	ZNF251	145917862	0.520000	0.26250	0.890000	0.34922	0.173000	0.22820	0.224000	0.17738	0.004000	0.14682	-0.311000	0.09066	AAG		0.358	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
ZNF596	169270	broad.mit.edu	37	8	196079	196079	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:196079G>T	ENST00000398612.1	+	6	1615	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF596_ENST00000320552.2_Missense_Mutation_p.R341I|ZNF596_ENST00000308811.4_Missense_Mutation_p.R411I	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R411I(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CGACATGAGAGAACTCACACT	0.443																																					p.R411I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232T	8						.						114.0	101.0	106.0					8																	196079		2203	4300	6503	186079	SO:0001583	missense	169270	exon6			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1232G>T	8.37:g.196079G>T	ENSP00000381613:p.Arg411Ile	Somatic		Capture	Illumina HiSeq	Phase_I	186079	NM_173539	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681633	0.29872	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.24908	1.83;1.83;1.83	2.62	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.63208	1.945	0.30073	N	0.809862	D	0.76494	0.999	D	0.71870	0.975	T	0.31081	-0.9956	9	0.59425	D	0.04	.	6.2752	0.20977	0.2099:0.0:0.7901:0.0	.	411	Q8TC21	ZN596_HUMAN	I	411;341;411	ENSP00000310033:R411I;ENSP00000318719:R341I;ENSP00000381613:R411I	ENSP00000310033:R411I	R	+	2	0	ZNF596	186079	0.000000	0.05858	0.261000	0.24466	0.349000	0.29174	0.415000	0.21181	0.481000	0.27557	0.655000	0.94253	AGA		0.443	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539	
MYOM2	9172	broad.mit.edu	37	8	2017609	2017609	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2017609G>A	ENST00000262113.4	+	8	927	c.786G>A	c.(784-786)ccG>ccA	p.P262P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	262					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.P262P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGGACTCCCGATTGGATGTA	0.478																																					p.P262P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	8						.						179.0	171.0	173.0					8																	2017609		2203	4300	6503	2005016	SO:0001819	synonymous_variant	9172	exon8				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.786G>A	8.37:g.2017609G>A		Somatic		Capture	Illumina HiSeq	Phase_I	2005016	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.478	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
MYOM2	9172	broad.mit.edu	37	8	2071522	2071522	+	Intron	SNP	G	G	T	rs187275451	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2071522G>T	ENST00000262113.4	+	30	3796				MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.?(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAGGTAAAAGAAAACCTCCT	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						83.0	83.0	83.0					8																	2071522		2203	4300	6503	2058929	SO:0001627	intron_variant	9172	.				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3655+7G>T	8.37:g.2071522G>T		Somatic		Capture	Illumina HiSeq	Phase_I	2058929	.	Q7Z3Y2	Intron	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.428	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
MYOM2	9172	broad.mit.edu	37	8	2077195	2077195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2077195G>A	ENST00000262113.4	+	32	3916	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E684K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1259					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E1259K(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTTTACAGACGAAATGAAAGT	0.498																																					p.E1259K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3775A	8						.						74.0	70.0	72.0					8																	2077195		2203	4300	6503	2064602	SO:0001583	missense	9172	exon32				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3775G>A	8.37:g.2077195G>A	ENSP00000262113:p.Glu1259Lys	Somatic		Capture	Illumina HiSeq	Phase_I	2064602	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.706449	0.68615	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.35048	1.33;1.33	5.6	5.6	0.85130	Immunoglobulin-like fold (1);	0.048693	0.85682	D	0.000000	T	0.39332	0.1074	M	0.64404	1.975	0.43300	D	0.995296	P	0.38767	0.646	B	0.36289	0.221	T	0.24404	-1.0161	10	0.39692	T	0.17	.	18.3866	0.90469	0.0:0.0:1.0:0.0	.	1259	P54296	MYOM2_HUMAN	K	1259;684	ENSP00000262113:E1259K;ENSP00000428396:E684K	ENSP00000262113:E1259K	E	+	1	0	MYOM2	2064602	1.000000	0.71417	0.535000	0.28026	0.717000	0.41224	6.694000	0.74587	2.620000	0.88729	0.537000	0.68136	GAA		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2808626	2808626	+	Intron	SNP	C	C	T	rs373481976		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2808626C>T	ENST00000520002.1	-	67	10760				CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Intron|CSMD1_ENST00000537824.1_Intron|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)		p.?(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGAATTCTTCGGGACCTACC	0.448																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	8						.	C		0,3844		0,0,1922	82.0	75.0	77.0			-5.9	0.0	8		77	1,8255		0,1,4127	no	intron	CSMD1	NM_033225.5		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083			2808626	1,12099	1922	4128	6050	2796033	SO:0001627	intron_variant	64478	.					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10204+9G>A	8.37:g.2808626C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2796033	.	Q0H0J5|Q96QU9|Q96RM4	Intron	SNP	ENST00000520002.1	37																																																																																					0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2808750	2808750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2808750C>A	ENST00000520002.1	-	67	10645	c.10090G>T	c.(10090-10092)Gaa>Taa	p.E3364*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E3187*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E3186*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E3364*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E3363*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E3187*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3364						integral component of membrane (GO:0016021)		p.E3363*(1)|p.E3092*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTAAATATTCATAATACCCC	0.453																																					p.X3363L												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G10088T	8						.						67.0	63.0	64.0					8																	2808750		1878	4089	5967	2796157	SO:0001587	stop_gained	64478	exon66					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10090G>T	8.37:g.2808750C>A	ENSP00000430733:p.Glu3364*	Somatic		Capture	Illumina HiSeq	Phase_I	2796157	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	19.454781|19.454781	0.99919|0.99919	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.33141|.	T|.	0.24|.	.|.	19.0683|19.0683	0.93122|0.93122	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3187;3364;3225;3363;3186|2765	.|.	ENSP00000320445:E3225X|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2796157|2796157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	5.878000|5.878000	0.69682|0.69682	2.487000|2.487000	0.83934|0.83934	0.643000|0.643000	0.83706|0.83706	GAA|TGA		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2815269	2815269	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2815269G>A	ENST00000520002.1	-	64	10321	c.9766C>T	c.(9766-9768)Cgc>Tgc	p.R3256C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R3079C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3078C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3256C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3255C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3079C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3256	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R3255C(1)|p.R2984C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCAGGTGCGAGTCGTGGAA	0.453																																					p.S3255L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9764T	8						.						100.0	94.0	96.0					8																	2815269		1950	4150	6100	2802676	SO:0001583	missense	64478	exon63					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9766C>T	8.37:g.2815269G>A	ENSP00000430733:p.Arg3256Cys	Somatic		Capture	Illumina HiSeq	Phase_I	2802676	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.110744|3.110744	0.56398|0.56398	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18|.	5.48|5.48	4.58|4.58	0.56647|0.56647	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.90807|0.90807	0.7113|0.7113	H|H	0.99238|0.99238	4.48|4.48	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	D|D	0.94543|0.94543	0.7747|0.7747	10|5	0.54805|.	T|.	0.06|.	.|.	15.2261|15.2261	0.73352|0.73352	0.0:0.0:0.8448:0.1552|0.0:0.0:0.8448:0.1552	.|.	3256;3256;3078|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	C|L	3079;3256;3117;3255;3078|2672	ENSP00000383047:R3079C;ENSP00000430733:R3256C;ENSP00000441462:R3255C;ENSP00000446243:R3078C|.	ENSP00000320445:R3117C|.	R|S	-|-	1|2	0|0	CSMD1|CSMD1	2802676|2802676	1.000000|1.000000	0.71417|0.71417	0.046000|0.046000	0.18839|0.18839	0.428000|0.428000	0.31595|0.31595	3.311000|3.311000	0.51919|0.51919	1.381000|1.381000	0.46364|0.46364	0.643000|0.643000	0.83706|0.83706	CGC|TCG		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2820886	2820886	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2820886C>T	ENST00000520002.1	-	61	9870	c.9315G>A	c.(9313-9315)caG>caA	p.Q3105Q	CSMD1_ENST00000400186.3_Silent_p.Q2928Q|CSMD1_ENST00000542608.1_Silent_p.Q2927Q|CSMD1_ENST00000602557.1_Silent_p.Q3105Q|CSMD1_ENST00000537824.1_Silent_p.Q3104Q|CSMD1_ENST00000602723.1_Silent_p.Q2928Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3105	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.Q2833Q(1)|p.Q3104Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGTTCCATTCTGCACCGGCG	0.552																																					p.E3105K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G9313A	8						.						139.0	143.0	142.0					8																	2820886		1919	4157	6076	2808293	SO:0001819	synonymous_variant	64478	exon60					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9315G>A	8.37:g.2820886C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2808293	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	4.254	0.046171	0.08243	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.93	-1.84	0.07809	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36016	-0.9765	4	.	.	.	.	9.747	0.40453	0.0:0.2816:0.487:0.2314	.	.	.	.	K	2522	.	.	E	-	1	0	CSMD1	2808293	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.453000	0.02383	-0.198000	0.10333	0.655000	0.94253	GAA		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2823423	2823423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2823423C>T	ENST00000520002.1	-	60	9712	c.9157G>A	c.(9157-9159)Gac>Aac	p.D3053N	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3053N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3052N|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3053	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.D3052N(1)|p.D2781N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGTGAAGTCGGTCCCAAAC	0.463																																					p.R3052Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9155A	8						.						108.0	108.0	108.0					8																	2823423		2069	4206	6275	2810830	SO:0001583	missense	64478	exon59					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9157G>A	8.37:g.2823423C>T	ENSP00000430733:p.Asp3053Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2810830	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.495065|4.495065	0.85069|0.85069	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.24538|.	1.85;1.85|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Complement control module (2);Sushi/SCR/CCP (3);|.	0.067835|.	0.56097|.	D|.	0.000035|.	T|T	0.71986|0.71986	0.3405|0.3405	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.987|.	D;P|.	0.81914|.	0.995;0.862|.	T|T	0.68845|0.68845	-0.5301|-0.5301	10|5	0.46703|.	T|.	0.11|.	.|.	19.2323|19.2323	0.93845|0.93845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3053;3053|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	N|Q	3053;2914;3052|2469	ENSP00000430733:D3053N;ENSP00000441462:D3052N|.	ENSP00000320445:D2914N|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	2810830|2810830	1.000000|1.000000	0.71417|0.71417	0.592000|0.592000	0.28758|0.28758	0.383000|0.383000	0.30230|0.30230	5.837000|5.837000	0.69381|0.69381	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2910080	2910080	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2910080G>T	ENST00000520002.1	-	51	8122	c.7567C>A	c.(7567-7569)Cat>Aat	p.H2523N	CSMD1_ENST00000400186.3_Missense_Mutation_p.H2523N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2522N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2523N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2522N|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2523N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2523	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H2251N(1)|p.H2522N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGCCCTCATGACATTCATAG	0.493																																					p.S2522X												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7565A	8						.						69.0	65.0	66.0					8																	2910080		1942	4139	6081	2897487	SO:0001583	missense	64478	exon50					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7567C>A	8.37:g.2910080G>T	ENSP00000430733:p.His2523Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2897487	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.003|0.003	-2.425578|-2.425578	0.00186|0.00186	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	5.32|5.32	1.53|1.53	0.23141|0.23141	Complement control module (2);Sushi/SCR/CCP (3);|.	0.402319|.	0.26200|.	N|.	0.025750|.	T|.	0.06280|.	0.0162|.	N|N	0.00146|0.00146	-1.995|-1.995	0.21147|0.21147	N|N	0.999775|0.999775	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.0;0.001|.	T|.	0.38542|.	-0.9656|.	10|.	0.02654|.	T|.	1|.	.|.	8.0608|8.0608	0.30631|0.30631	0.0:0.0704:0.3232:0.6064|0.0:0.0704:0.3232:0.6064	.|.	2523;2523;2522|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	N|X	2523;2523;2384;2522;2522|1939	ENSP00000383047:H2523N;ENSP00000430733:H2523N;ENSP00000441462:H2522N;ENSP00000446243:H2522N|.	ENSP00000320445:H2384N|.	H|S	-|-	1|2	0|0	CSMD1|CSMD1	2897487|2897487	0.993000|0.993000	0.37304|0.37304	0.001000|0.001000	0.08648|0.08648	0.041000|0.041000	0.13682|0.13682	1.245000|1.245000	0.32790|0.32790	0.053000|0.053000	0.16036|0.16036	-0.262000|-0.262000	0.10625|0.10625	CAT|TCA		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2964054	2964054	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2964054A>G	ENST00000520002.1	-	47	7503	c.6948T>C	c.(6946-6948)tgT>tgC	p.C2316C	CSMD1_ENST00000400186.3_Silent_p.C2316C|CSMD1_ENST00000542608.1_Silent_p.C2315C|CSMD1_ENST00000602557.1_Silent_p.C2316C|CSMD1_ENST00000537824.1_Silent_p.C2315C|CSMD1_ENST00000602723.1_Silent_p.C2316C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2316	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.C2315C(1)|p.C2044C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCATACCTTCACATGTTGGGA	0.428																																					p.X2316R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T6946C	8						.						53.0	51.0	52.0					8																	2964054		1893	4131	6024	2951461	SO:0001819	synonymous_variant	64478	exon46					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6948T>C	8.37:g.2964054A>G		Somatic		Capture	Illumina HiSeq	Phase_I	2951461	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	0.901	-0.722126	0.03182	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.31	0.0513	0.14297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0836	0.36567	0.6936:0.0:0.3064:0.0	.	.	.	.	R	1796	.	.	X	-	1	0	CSMD1	2951461	1.000000	0.71417	0.935000	0.37517	0.045000	0.14185	2.578000	0.46051	-0.224000	0.09928	-1.276000	0.01395	TGA		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2975929	2975929	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:2975929C>A	ENST00000520002.1	-	43	6980	c.6425G>T	c.(6424-6426)aGa>aTa	p.R2142I	CSMD1_ENST00000400186.3_Missense_Mutation_p.R2142I|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2141I|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2142I|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2141I|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2142I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2142	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2141I(1)|p.R1870I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCATCACATCTTGGAAAAGG	0.378																																					p.K2141N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6423T	8						.						109.0	103.0	105.0					8																	2975929		1974	4151	6125	2963336	SO:0001583	missense	64478	exon42					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6425G>T	8.37:g.2975929C>A	ENSP00000430733:p.Arg2142Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2963336	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.43|13.43	2.234878|2.234878	0.39498|0.39498	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	4.85|4.85	4.85|4.85	0.62838|0.62838	.|CUB (1);Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67249|0.67249	0.2873|0.2873	L|L	0.35249|0.35249	1.045|1.045	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.71674	.|0.998;0.709;0.977	.|D;D;P	.|0.79784	.|0.993;0.945;0.888	T|T	0.62987|0.62987	-0.6737|-0.6737	5|10	.|0.26408	.|T	.|0.33	.|.	12.7634|12.7634	0.57378|0.57378	0.0:0.9203:0.0:0.0797|0.0:0.9203:0.0:0.0797	.|.	.|2142;2142;2141	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	N|I	1621|2142;2142;2003;2141;2141	.|ENSP00000383047:R2142I;ENSP00000430733:R2142I;ENSP00000441462:R2141I;ENSP00000446243:R2141I	.|ENSP00000320445:R2003I	K|R	-|-	3|2	2|0	CSMD1|CSMD1	2963336|2963336	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.151000|0.151000	0.21798|0.21798	3.755000|3.755000	0.55197|0.55197	2.378000|2.378000	0.81104|0.81104	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3611473	3611473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:3611473C>A	ENST00000520002.1	-	6	1465	c.910G>T	c.(910-912)Gga>Tga	p.G304*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G304*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G304*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	304	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G304*(1)|p.G32*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTAAATCCTTTGCGTCGG	0.413																																					p.G304X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G910T	8						.						103.0	98.0	100.0					8																	3611473		1847	4087	5934	3598881	SO:0001587	stop_gained	64478	exon6					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.910G>T	8.37:g.3611473C>A	ENSP00000430733:p.Gly304*	Somatic		Capture	Illumina HiSeq	Phase_I	3598881	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	39	7.420572	0.98272	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	304;304;166;304;304;304	.	ENSP00000320445:G166X	G	-	1	0	CSMD1	3598881	1.000000	0.71417	0.944000	0.38274	0.173000	0.22820	7.524000	0.81866	2.894000	0.99253	0.591000	0.81541	GGA		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3889513	3889513	+	Missense_Mutation	SNP	T	T	C	rs530553387	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:3889513T>C	ENST00000520002.1	-	4	1079	c.524A>G	c.(523-525)tAc>tGc	p.Y175C	CSMD1_ENST00000539096.1_Missense_Mutation_p.Y175C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y175C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y175C|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y175C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y175C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y175C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	175	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.Y175C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCAAGATGTAGCCAGGGAG	0.522													T|||	2	0.000399361	0.0	0.0	5008	,	,		15437	0.0		0.002	False		,,,				2504	0.0				p.Y175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A524G	8						.						112.0	123.0	119.0					8																	3889513		2116	4252	6368	3876921	SO:0001583	missense	64478	exon4					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.524A>G	8.37:g.3889513T>C	ENSP00000430733:p.Tyr175Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3876921	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	T	16.49	3.137705	0.56936	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.52	5.52	0.82312	.	0.000000	0.45126	U	0.000393	T	0.73225	0.3560	H	0.96015	3.755	0.32391	N	0.5533	D	0.69078	0.997	D	0.63113	0.911	D	0.85701	0.1313	10	0.72032	D	0.01	.	14.8134	0.70013	0.0:0.0:0.0:1.0	.	175	E5RIG2	.	C	175;175;37;175;175;175	ENSP00000383047:Y175C;ENSP00000430733:Y175C;ENSP00000441462:Y175C;ENSP00000446243:Y175C;ENSP00000441675:Y175C	ENSP00000320445:Y37C	Y	-	2	0	CSMD1	3876921	1.000000	0.71417	0.980000	0.43619	0.660000	0.38997	3.922000	0.56462	2.111000	0.64477	0.533000	0.62120	TAC		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MCPH1	79648	broad.mit.edu	37	8	6296571	6296571	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:6296571G>T	ENST00000344683.5	+	6	610	c.534G>T	c.(532-534)aaG>aaT	p.K178N	MCPH1_ENST00000522905.1_Intron|MCPH1_ENST00000519480.1_Missense_Mutation_p.K178N	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	178					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.K178N(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAATGGAGAAGAGATTACAAG	0.338																																					p.K178N	Colon(95;1448 1467 8277 34473 35819)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G534T	8						.						90.0	82.0	85.0					8																	6296571		1876	4113	5989	6283979	SO:0001583	missense	79648	exon6			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.534G>T	8.37:g.6296571G>T	ENSP00000342924:p.Lys178Asn	Somatic		Capture	Illumina HiSeq	Phase_I	6283979	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076277	0.36662	.	.	ENSG00000147316	ENST00000344683;ENST00000519480	T;T	0.08458	3.39;3.09	5.5	3.7	0.42460	.	0.266852	0.42294	N	0.000734	T	0.19565	0.0470	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.995;0.998	P;P	0.62649	0.811;0.905	T	0.02661	-1.1127	10	0.29301	T	0.29	-12.5612	5.4834	0.16737	0.1606:0.1759:0.6635:0.0	.	178;178	Q8NEM0;E9PGU5	MCPH1_HUMAN;.	N	178	ENSP00000342924:K178N;ENSP00000430962:K178N	ENSP00000342924:K178N	K	+	3	2	MCPH1	6283979	1.000000	0.71417	0.633000	0.29310	0.033000	0.12548	1.179000	0.31993	1.468000	0.48064	-0.203000	0.12734	AAG		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
MCPH1	79648	broad.mit.edu	37	8	6302770	6302770	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:6302770T>G	ENST00000344683.5	+	8	1603	c.1527T>G	c.(1525-1527)tgT>tgG	p.C509W	MCPH1_ENST00000522905.1_Missense_Mutation_p.C461W|MCPH1_ENST00000519480.1_Missense_Mutation_p.C509W	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	509					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.C509W(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCCTAAGGTGTTGTAGACAGG	0.488																																					p.C509W	Colon(95;1448 1467 8277 34473 35819)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1527G	8						.						84.0	86.0	85.0					8																	6302770		1917	4123	6040	6290178	SO:0001583	missense	79648	exon8			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1527T>G	8.37:g.6302770T>G	ENSP00000342924:p.Cys509Trp	Somatic		Capture	Illumina HiSeq	Phase_I	6290178	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314067	0.40996	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10860	2.83;2.83;2.83	5.35	-5.17	0.02849	.	2.735300	0.00780	N	0.001266	T	0.16685	0.0401	L	0.53249	1.67	0.09310	N	1	P;P;P	0.49783	0.928;0.83;0.928	P;P;P	0.51516	0.672;0.601;0.573	T	0.36456	-0.9747	10	0.38643	T	0.18	9.1797	6.4434	0.21863	0.0:0.3967:0.2539:0.3494	.	461;509;509	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	W	509;509;461	ENSP00000342924:C509W;ENSP00000430962:C509W;ENSP00000430768:C461W	ENSP00000342924:C509W	C	+	3	2	MCPH1	6290178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.235000	0.17948	-1.188000	0.02705	-0.274000	0.10170	TGT		0.488	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
MFHAS1	9258	broad.mit.edu	37	8	8748659	8748659	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:8748659C>T	ENST00000276282.6	-	1	2496	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	637	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.							p.R637H(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTCCCGAAGGCGTCGTAAGTG	0.587																																					p.R637H	Melanoma(103;1201 2045 17515 28966)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1910A	8						.						80.0	65.0	70.0					8																	8748659		2203	4300	6503	8786069	SO:0001583	missense	9258	exon1			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1910G>A	8.37:g.8748659C>T	ENSP00000276282:p.Arg637His	Somatic		Capture	Illumina HiSeq	Phase_I	8786069	NM_004225	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264314	0.39995	.	.	ENSG00000147324	ENST00000276282	T	0.80304	-1.36	5.28	5.28	0.74379	ROC GTPase (1);	0.067428	0.53938	D	0.000042	T	0.70090	0.3184	N	0.20685	0.6	0.42777	D	0.993851	B	0.22541	0.071	B	0.14578	0.011	T	0.65038	-0.6265	10	0.34782	T	0.22	.	18.0901	0.89472	0.0:1.0:0.0:0.0	.	637	Q9Y4C4	MFHA1_HUMAN	H	637	ENSP00000276282:R637H	ENSP00000276282:R637H	R	-	2	0	MFHAS1	8786069	1.000000	0.71417	0.995000	0.50966	0.626000	0.37791	4.728000	0.62000	2.736000	0.93811	0.655000	0.94253	CGC		0.587	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225	
PRSS55	203074	broad.mit.edu	37	8	10396311	10396311	+	3'UTR	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:10396311A>T	ENST00000328655.3	+	0	1107				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGATAATAAAATAGAGGCTAT	0.547																																					.												.	.	0			.	8						.						56.0	64.0	61.0					8																	10396311		2197	4297	6494	10433721	SO:0001624	3_prime_UTR_variant	203074	.			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.*8A>T	8.37:g.10396311A>T		Somatic		Capture	Illumina HiSeq	Phase_I	10433721	.	E5RJX5	3'UTR	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.547	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
TUSC3	7991	broad.mit.edu	37	8	15480695	15480695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:15480695G>A	ENST00000503731.1	+	2	393	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TUSC3_ENST00000509380.1_Missense_Mutation_p.R82Q|TUSC3_ENST00000506802.1_Missense_Mutation_p.R82Q|TUSC3_ENST00000382020.4_Missense_Mutation_p.R82Q|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	82	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R82Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GCACCACCTCGAAACTATTCC	0.368																																					p.R82Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245A	8						.						82.0	84.0	83.0					8																	15480695		2203	4300	6503	15525066	SO:0001583	missense	7991	exon2			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.245G>A	8.37:g.15480695G>A	ENSP00000424544:p.Arg82Gln	Somatic		Capture	Illumina HiSeq	Phase_I	15525066	NM_006765	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981730	0.93044	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	5.59	3.81	0.43845	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.051651	0.85682	D	0.000000	T	0.20210	0.0486	M	0.89287	3.02	0.50813	D	0.999897	D;D;D;D;D;P	0.89917	0.988;1.0;0.997;1.0;1.0;0.465	D;D;D;D;D;B	0.79784	0.933;0.993;0.964;0.993;0.976;0.053	T	0.00896	-1.1523	10	0.66056	D	0.02	-7.0168	11.6782	0.51442	0.1434:0.0:0.8566:0.0	.	82;82;82;82;82;82	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	Q	82	ENSP00000371450:R82Q;ENSP00000425777:R82Q;ENSP00000423426:R82Q;ENSP00000424544:R82Q	ENSP00000221167:R82Q	R	+	2	0	TUSC3	15525066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	0.855000	0.35359	0.650000	0.86243	CGA		0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
TUSC3	7991	broad.mit.edu	37	8	15519698	15519698	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:15519698A>G	ENST00000503731.1	+	5	749	c.601A>G	c.(601-603)Acc>Gcc	p.T201A	TUSC3_ENST00000509380.1_Missense_Mutation_p.T201A|TUSC3_ENST00000506802.1_Missense_Mutation_p.T201A|TUSC3_ENST00000382020.4_Missense_Mutation_p.T201A|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	201					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.T201A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTACTCTGGTACCATTGCTTT	0.368																																					p.T201A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A601G	8						.						172.0	169.0	170.0					8																	15519698		2203	4300	6503	15564069	SO:0001583	missense	7991	exon5			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.601A>G	8.37:g.15519698A>G	ENSP00000424544:p.Thr201Ala	Somatic		Capture	Illumina HiSeq	Phase_I	15564069	NM_006765	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094561	0.36952	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.04	3.86	0.44501	.	0.045427	0.85682	D	0.000000	T	0.68229	0.2978	L	0.39397	1.21	0.49582	D	0.999809	P;B;B;B;B;B	0.38280	0.625;0.016;0.341;0.016;0.016;0.09	B;B;B;B;B;B	0.39971	0.315;0.017;0.116;0.06;0.034;0.05	T	0.60561	-0.7239	10	0.15499	T	0.54	-13.5928	10.7123	0.45990	0.8571:0.0:0.0:0.1428	.	201;201;201;201;201;201	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	A	201	ENSP00000371450:T201A;ENSP00000425777:T201A;ENSP00000423426:T201A;ENSP00000424544:T201A	ENSP00000221167:T201A	T	+	1	0	TUSC3	15564069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.811000	0.69187	0.854000	0.35336	0.533000	0.62120	ACC		0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
TUSC3	7991	broad.mit.edu	37	8	15588189	15588189	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:15588189G>A	ENST00000503731.1	+	7	961	c.813G>A	c.(811-813)ggG>ggA	p.G271G	TUSC3_ENST00000509380.1_Silent_p.G271G|TUSC3_ENST00000506802.1_Silent_p.G271G|TUSC3_ENST00000382020.4_Silent_p.G271G	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	271					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G271G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACATTCATGGGAGCAGCCAGG	0.363																																					p.G271G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G813A	8						.						86.0	84.0	85.0					8																	15588189		2203	4300	6503	15632560	SO:0001819	synonymous_variant	7991	exon7			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.813G>A	8.37:g.15588189G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15632560	NM_006765	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																				0.363	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
TUSC3	7991	broad.mit.edu	37	8	15606076	15606076	+	Intron	SNP	G	G	T	rs368882548		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:15606076G>T	ENST00000503731.1	+	9	1176				TUSC3_ENST00000506802.1_Intron|TUSC3_ENST00000382020.4_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3						cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTGCTGTGTGGTTTTTTTAAa	0.313																																					.												.	.	0			.	8						.						177.0	178.0	177.0					8																	15606076		876	1991	2867	15650447	SO:0001627	intron_variant	7991	.			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.1028+102G>T	8.37:g.15606076G>T		Somatic		Capture	Illumina HiSeq	Phase_I	15650447	.	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Intron	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																				0.313	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
MSR1	4481	broad.mit.edu	37	8	16012573	16012573	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:16012573C>A	ENST00000262101.5	-	6	1019	c.898G>T	c.(898-900)Ggt>Tgt	p.G300C	MSR1_ENST00000350896.3_Splice_Site_p.G300C|MSR1_ENST00000536385.1_Splice_Site_p.G74C|MSR1_ENST00000381998.4_Splice_Site_p.G300C|MSR1_ENST00000355282.2_Splice_Site_p.G300C|MSR1_ENST00000445506.2_Splice_Site_p.G318C			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	300	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G300C(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTACCATACCTATTGGACCT	0.403																																					p.G300C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G898T	8						.						86.0	84.0	85.0					8																	16012573		2203	4300	6503	16056944	SO:0001630	splice_region_variant	4481	exon6			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.898+1G>T	8.37:g.16012573C>A		Somatic		Capture	Illumina HiSeq	Phase_I	16056944	NM_002445	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924444	0.52653	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.99186	-4.87;-5.53;-5.53;-4.87;-4.87;-5.53;-5.53	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000052	D	0.99619	0.9861	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97454	1.0030	9	.	.	.	.	16.3305	0.83010	0.0:1.0:0.0:0.0	.	74;318;300;300;300	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	C	300;300;318;300;90;300;74	ENSP00000262100:G300C;ENSP00000262101:G300C;ENSP00000405453:G318C;ENSP00000347430:G300C;ENSP00000430536:G90C;ENSP00000371428:G300C;ENSP00000444414:G74C	.	G	-	1	0	MSR1	16056944	0.991000	0.36638	0.965000	0.40720	0.192000	0.23643	3.776000	0.55356	2.627000	0.88993	0.650000	0.86243	GGT		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		Missense_Mutation
MSR1	4481	broad.mit.edu	37	8	16032709	16032709	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:16032709A>C	ENST00000262101.5	-	3	325	c.204T>G	c.(202-204)atT>atG	p.I68M	MSR1_ENST00000350896.3_Missense_Mutation_p.I68M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.I68M|MSR1_ENST00000355282.2_Missense_Mutation_p.I68M|MSR1_ENST00000445506.2_Missense_Mutation_p.I86M			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	68					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.I68M(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCACTATTCCAATGAGAGGGA	0.418																																					p.I68M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T204G	8						.						121.0	115.0	117.0					8																	16032709		2203	4300	6503	16077080	SO:0001583	missense	4481	exon3			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.204T>G	8.37:g.16032709A>C	ENSP00000262101:p.Ile68Met	Somatic		Capture	Illumina HiSeq	Phase_I	16077080	NM_002445	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455936	0.43634	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.91124	-2.43;-2.17;-2.17;-2.43;-2.79	5.34	-6.08	0.02151	Macrophage scavenger receptor (1);	0.470945	0.19794	N	0.105914	D	0.89431	0.6713	M	0.70595	2.14	0.24084	N	0.995939	P;P;P;P	0.49090	0.868;0.919;0.919;0.779	B;P;P;B	0.51918	0.233;0.61;0.684;0.317	D	0.84563	0.0651	10	0.56958	D	0.05	.	8.7301	0.34494	0.6761:0.1066:0.2173:0.0	.	86;68;68;68	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	M	68;68;86;68;68	ENSP00000262100:I68M;ENSP00000262101:I68M;ENSP00000405453:I86M;ENSP00000347430:I68M;ENSP00000371428:I68M	ENSP00000262101:I68M	I	-	3	3	MSR1	16077080	0.011000	0.17503	0.027000	0.17364	0.864000	0.49448	-0.556000	0.05992	-1.035000	0.03291	0.528000	0.53228	ATT		0.418	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
MICU3	286097	broad.mit.edu	37	8	16939259	16939259	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:16939259C>T	ENST00000318063.5	+	5	736					NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.?(1)									AGTAAGTATACTTATTGCTTT	0.269																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						25.0	26.0	25.0					8																	16939259		1967	3848	5815	16983630	SO:0001627	intron_variant	286097	.			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.694+10C>T	8.37:g.16939259C>T		Somatic		Capture	Illumina HiSeq	Phase_I	16983630	.	Q8IYZ3	Intron	SNP	ENST00000318063.5	37	CCDS5999.1																																																																																				0.269	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	
PDGFRL	5157	broad.mit.edu	37	8	17486122	17486122	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:17486122T>C	ENST00000541323.1	+	5	1077	c.632T>C	c.(631-633)tTc>tCc	p.F211S	PDGFRL_ENST00000398074.3_Missense_Mutation_p.F211S|PDGFRL_ENST00000251630.6_Missense_Mutation_p.F211S	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	211					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)	p.F211S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CACAGGGAATTCCCAGCCAAG	0.547																																					p.F211S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T632C	8						.						112.0	102.0	105.0					8																	17486122		2203	4300	6503	17530402	SO:0001583	missense	5157	exon5			D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.632T>C	8.37:g.17486122T>C	ENSP00000444211:p.Phe211Ser	Somatic		Capture	Illumina HiSeq	Phase_I	17530402	NM_006207	A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751812	0.89753	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.26810	1.71;1.71;1.71	5.44	5.44	0.79542	Immunoglobulin-like fold (1);	0.151466	0.64402	D	0.000013	T	0.42108	0.1188	M	0.65498	2.005	0.58432	D	0.999995	D	0.60160	0.987	P	0.53146	0.719	T	0.39881	-0.9592	10	0.72032	D	0.01	-17.6502	15.8052	0.78501	0.0:0.0:0.0:1.0	.	211	Q15198	PGFRL_HUMAN	S	211	ENSP00000251630:F211S;ENSP00000444211:F211S;ENSP00000381149:F211S	ENSP00000251630:F211S	F	+	2	0	PDGFRL	17530402	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.698000	0.84413	2.206000	0.71126	0.533000	0.62120	TTC		0.547	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207	
MTUS1	57509	broad.mit.edu	37	8	17612227	17612227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:17612227C>A	ENST00000262102.6	-	2	1314	c.1090G>T	c.(1090-1092)Gtg>Ttg	p.V364L	MTUS1_ENST00000519263.1_Missense_Mutation_p.V364L|MTUS1_ENST00000381862.3_Missense_Mutation_p.V364L|MTUS1_ENST00000381869.3_Missense_Mutation_p.V364L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	364					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V364L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGGTTCAGCACTTGAGCTTCG	0.423																																					p.V364L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090T	8						.						102.0	95.0	97.0					8																	17612227		1878	4106	5984	17656507	SO:0001583	missense	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1090G>T	8.37:g.17612227C>A	ENSP00000262102:p.Val364Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17656507	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717984	0.15372	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.28069	2.54;2.59;2.54;1.63	4.68	1.23	0.21249	.	1.296380	0.05386	N	0.538137	T	0.19127	0.0459	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19073	0.033;0.008;0.008	B;B;B	0.19946	0.027;0.01;0.015	T	0.30909	-0.9962	10	0.52906	T	0.07	0.0494	1.9735	0.03411	0.1527:0.4822:0.1491:0.216	.	364;364;364	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	L	364	ENSP00000371293:V364L;ENSP00000262102:V364L;ENSP00000430167:V364L;ENSP00000371286:V364L	ENSP00000262102:V364L	V	-	1	0	MTUS1	17656507	0.004000	0.15560	0.739000	0.30968	0.485000	0.33311	0.042000	0.13949	0.522000	0.28464	0.561000	0.74099	GTG		0.423	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17612659	17612659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:17612659C>A	ENST00000262102.6	-	2	882	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	MTUS1_ENST00000519263.1_Nonsense_Mutation_p.E220*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.E220*|MTUS1_ENST00000381869.3_Nonsense_Mutation_p.E220*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	220					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E220*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TAAGTAGTTTCTCTTGCATGC	0.433																																					p.E220X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G658T	8						.						182.0	158.0	165.0					8																	17612659		1904	4117	6021	17656939	SO:0001587	stop_gained	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.658G>T	8.37:g.17612659C>A	ENSP00000262102:p.Glu220*	Somatic		Capture	Illumina HiSeq	Phase_I	17656939	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	37	6.621581	0.97714	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	.	.	.	4.42	3.55	0.40652	.	0.791235	0.11290	N	0.579373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.7086	10.2888	0.43584	0.0:0.9057:0.0:0.0943	.	.	.	.	X	220	.	.	E	-	1	0	MTUS1	17656939	0.181000	0.23161	0.011000	0.14972	0.049000	0.14656	1.902000	0.39848	1.463000	0.47967	-0.253000	0.11424	GAA		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
FGL1	2267	broad.mit.edu	37	8	17726236	17726236	+	Silent	SNP	G	G	A	rs142240316		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:17726236G>A	ENST00000398056.2	-	9	1415	c.600C>T	c.(598-600)taC>taT	p.Y200Y	FGL1_ENST00000381841.2_Silent_p.Y200Y|FGL1_ENST00000518650.1_Silent_p.Y200Y|FGL1_ENST00000427924.1_Silent_p.Y200Y|FGL1_ENST00000398054.1_Silent_p.Y200Y|FGL1_ENST00000522444.1_Silent_p.Y200Y|FGL1_ENST00000381840.2_Silent_p.Y200Y			Q08830	FGL1_HUMAN	fibrinogen-like 1	200	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383																																					p.Y200Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600T	8						.	G	,,,	0,4406		0,0,2203	36.0	39.0	38.0		600,600,600,600	-0.9	0.1	8	dbSNP_134	38	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGL1	NM_004467.3,NM_147203.2,NM_201552.1,NM_201553.1	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	200/313,200/313,200/313,200/313	17726236	1,13003	2203	4299	6502	17770516	SO:0001819	synonymous_variant	2267	exon7			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.600C>T	8.37:g.17726236G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17770516	NM_147203	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	CCDS6004.1																																																																																				0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
FGL1	2267	broad.mit.edu	37	8	17739640	17739640	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:17739640G>A	ENST00000398056.2	-	5	927	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000381841.2_Missense_Mutation_p.R38C|FGL1_ENST00000518650.1_Missense_Mutation_p.R38C|FGL1_ENST00000427924.1_Missense_Mutation_p.R38C|FGL1_ENST00000398054.1_Missense_Mutation_p.R38C|FGL1_ENST00000522444.1_Missense_Mutation_p.R38C|FGL1_ENST00000381840.2_Missense_Mutation_p.R38C			Q08830	FGL1_HUMAN	fibrinogen-like 1	38					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.R38C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAAGCAGGCGCACCTGGGCT	0.507																																					p.R38C												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C112T	8						.						84.0	78.0	80.0					8																	17739640		2203	4300	6503	17783920	SO:0001583	missense	2267	exon3			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.112C>T	8.37:g.17739640G>A	ENSP00000381133:p.Arg38Cys	Somatic		Capture	Illumina HiSeq	Phase_I	17783920	NM_147203	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152051	0.57259	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.84	1.56	0.23342	.	1.142930	0.06304	N	0.701514	T	0.46927	0.1418	L	0.27053	0.805	0.24318	N	0.995059	D;D;D	0.67145	0.996;0.978;0.99	P;B;P	0.50791	0.65;0.328;0.53	T	0.37056	-0.9722	10	0.66056	D	0.02	.	4.8946	0.13744	0.2264:0.0:0.4885:0.2852	.	8;38;38	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	C	38;38;8;38;38;38;38;38;38	ENSP00000381133:R38C;ENSP00000429757:R38C;ENSP00000371263:R38C;ENSP00000401952:R38C;ENSP00000381131:R38C;ENSP00000371262:R38C;ENSP00000428430:R38C	ENSP00000221204:R38C	R	-	1	0	FGL1	17783920	0.858000	0.29795	0.094000	0.20943	0.967000	0.64934	1.691000	0.37721	0.505000	0.28104	0.650000	0.86243	CGC		0.507	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
INTS10	55174	broad.mit.edu	37	8	19701614	19701614	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:19701614G>A	ENST00000397977.3	+	15	2145	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	583					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.D583N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAACAGAGACGACATGGCATT	0.428																																					p.D583N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1747A	8						.						81.0	81.0	81.0					8																	19701614		1908	4134	6042	19745894	SO:0001583	missense	55174	exon15			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1747G>A	8.37:g.19701614G>A	ENSP00000381064:p.Asp583Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19745894	NM_018142	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515175	0.85389	.	.	ENSG00000104613	ENST00000397977	T	0.40225	1.04	5.79	4.92	0.64577	.	0.084060	0.85682	D	0.000000	T	0.44746	0.1308	M	0.62723	1.935	0.58432	D	0.999998	P	0.47106	0.89	B	0.44224	0.444	T	0.41556	-0.9502	9	.	.	.	-28.8704	13.5988	0.62007	0.0749:0.0:0.9251:0.0	.	583	Q9NVR2	INT10_HUMAN	N	583	ENSP00000381064:D583N	.	D	+	1	0	INTS10	19745894	1.000000	0.71417	0.950000	0.38849	0.637000	0.38172	9.476000	0.97823	1.447000	0.47661	0.650000	0.86243	GAC		0.428	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	
LPL	4023	broad.mit.edu	37	8	19813368	19813368	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:19813368G>T	ENST00000311322.8	+	6	1262	c.792G>T	c.(790-792)gtG>gtT	p.V264V		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	264					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.V264V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ACCAGCTAGTGAAGTGCTCCC	0.443																																					p.V264V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G792T	8						.						91.0	93.0	92.0					8																	19813368		2203	4300	6503	19857648	SO:0001819	synonymous_variant	4023	exon6				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.792G>T	8.37:g.19813368G>T		Somatic		Capture	Illumina HiSeq	Phase_I	19857648	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	CCDS6012.1																																																																																				0.443	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
SLC18A1	6570	broad.mit.edu	37	8	20030606	20030606	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:20030606T>C	ENST00000276373.5	-	6	931	c.665A>G	c.(664-666)gAc>gGc	p.D222G	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000381608.4_Missense_Mutation_p.D222G|SLC18A1_ENST00000265808.7_Missense_Mutation_p.D222G|SLC18A1_ENST00000437980.1_Missense_Mutation_p.D222G|SLC18A1_ENST00000440926.1_Missense_Mutation_p.D222G|SLC18A1_ENST00000519026.1_Missense_Mutation_p.D222G	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	222					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.D222G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TCTCTCATGGTCATCAGTGTA	0.627																																					p.D222G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A665G	8						.						39.0	36.0	37.0					8																	20030606		2201	4296	6497	20074886	SO:0001583	missense	6570	exon7				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.665A>G	8.37:g.20030606T>C	ENSP00000276373:p.Asp222Gly	Somatic		Capture	Illumina HiSeq	Phase_I	20074886	NM_001142324	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454326	0.63290	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043228	0.85682	D	0.000000	D	0.90587	0.7049	M	0.90082	3.085	0.58432	D	0.999999	D;P;P	0.54772	0.968;0.936;0.947	D;P;P	0.65233	0.933;0.82;0.771	D	0.92186	0.5755	10	0.62326	D	0.03	-19.7275	14.4664	0.67488	0.0:0.0:0.0:1.0	.	222;222;222	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	G	222;222;222;222;222;222;194	ENSP00000265808:D222G;ENSP00000276373:D222G;ENSP00000387549:D222G;ENSP00000413361:D222G;ENSP00000429664:D222G;ENSP00000371021:D222G;ENSP00000428999:D194G	ENSP00000265808:D222G	D	-	2	0	SLC18A1	20074886	1.000000	0.71417	0.863000	0.33907	0.004000	0.04260	7.902000	0.87389	2.150000	0.67090	0.533000	0.62120	GAC		0.627	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
SLC18A1	6570	broad.mit.edu	37	8	20031894	20031894	+	Silent	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:20031894T>A	ENST00000276373.5	-	5	875	c.609A>T	c.(607-609)ggA>ggT	p.G203G	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000381608.4_Silent_p.G203G|SLC18A1_ENST00000265808.7_Silent_p.G203G|SLC18A1_ENST00000437980.1_Silent_p.G203G|SLC18A1_ENST00000440926.1_Silent_p.G203G|SLC18A1_ENST00000519026.1_Silent_p.G203G	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	203					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G203G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AAAATGAAGATCCAATGCCTT	0.448																																					p.G203G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A609T	8						.						161.0	138.0	146.0					8																	20031894		2203	4300	6503	20076174	SO:0001819	synonymous_variant	6570	exon6				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.609A>T	8.37:g.20031894T>A		Somatic		Capture	Illumina HiSeq	Phase_I	20076174	NM_001142324	E9PDJ5|Q9BRE4	Silent	SNP	ENST00000276373.5	37	CCDS6013.1																																																																																				0.448	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
PIWIL2	55124	broad.mit.edu	37	8	22173829	22173829	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:22173829C>T	ENST00000454009.2	+	19	2789	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	PIWIL2_ENST00000356766.6_Silent_p.F760F|PIWIL2_ENST00000521356.1_Silent_p.F760F	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	760	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.F760F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGTTGGCTTCGTGGCAAGCA	0.388																																					p.F760F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2280T	8						.						142.0	126.0	131.0					8																	22173829		2203	4300	6503	22229774	SO:0001819	synonymous_variant	55124	exon19			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2280C>T	8.37:g.22173829C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22229774	NM_001135721	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																				0.388	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
PIWIL2	55124	broad.mit.edu	37	8	22211847	22211847	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:22211847C>A	ENST00000454009.2	+	22	3230	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	PIWIL2_ENST00000356766.6_Silent_p.V907V|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	907	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.V907V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CGCATTATGTCTGTGTTCTCA	0.463																																					p.V907V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2721A	8						.						196.0	160.0	172.0					8																	22211847		2203	4300	6503	22267792	SO:0001819	synonymous_variant	55124	exon22			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2721C>A	8.37:g.22211847C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22267792	NM_001135721	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																				0.463	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
PEBP4	157310	broad.mit.edu	37	8	22777724	22777724	+	Silent	SNP	C	C	T	rs376139908		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:22777724C>T	ENST00000256404.6	-	3	322	c.231G>A	c.(229-231)ccG>ccA	p.P77P	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	77						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.P77P(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		ACTTGACTATCGGCTCCATCC	0.547																																					p.P77P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	8						.	T		1,3877		0,1,1938	57.0	62.0	60.0		231	-11.3	0.0	8		60	0,8292		0,0,4146	no	coding-synonymous	PEBP4	NM_144962.2		0,1,6084	TT,TC,CC		0.0,0.0258,0.0082		77/228	22777724	1,12169	1939	4146	6085	22833669	SO:0001819	synonymous_variant	157310	exon3			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.231G>A	8.37:g.22777724C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22833669	NM_144962	Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	CCDS43724.1																																																																																				0.547	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962	
TNFRSF10B	8795	broad.mit.edu	37	8	22884791	22884791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:22884791C>T	ENST00000276431.4	-	7	1075	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R235Q|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R84Q	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	264					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.R264Q(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		AGCCCCAGGTCGTTGTGAGCT	0.562																																					p.R264Q	GBM(94;1064 1342 1839 21060 42553)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	8						.						71.0	69.0	69.0					8																	22884791		2203	4300	6503	22940736	SO:0001583	missense	8795	exon7			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.791G>A	8.37:g.22884791C>T	ENSP00000276431:p.Arg264Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22940736	NM_003842	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	1.051	-0.675822	0.03378	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.85556	-1.84;-2.0;2.81	1.77	-1.51	0.08664	.	9.625390	0.01527	N	0.018637	T	0.72326	0.3446	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.30511	0.059;0.015;0.042;0.282;0.002	B;B;B;B;B	0.15052	0.001;0.004;0.004;0.012;0.001	T	0.57335	-0.7829	10	0.13470	T	0.59	.	5.1947	0.15230	0.0:0.4663:0.0:0.5337	.	84;264;264;235;29	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	Q	264;235;84	ENSP00000276431:R264Q;ENSP00000317859:R235Q;ENSP00000443386:R84Q	ENSP00000276431:R264Q	R	-	2	0	TNFRSF10B	22940736	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.932000	0.03963	-0.480000	0.06803	-0.229000	0.12294	CGA		0.562	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
TNFRSF10A	8797	broad.mit.edu	37	8	23069695	23069695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:23069695G>A	ENST00000221132.3	-	2	401	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	113					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.L113F(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGATCATGAAGTTTGATGGTT	0.468																																					p.L113F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337T	8						.						256.0	197.0	217.0					8																	23069695		2203	4300	6503	23125640	SO:0001583	missense	8797	exon2			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.337C>T	8.37:g.23069695G>A	ENSP00000221132:p.Leu113Phe	Somatic		Capture	Illumina HiSeq	Phase_I	23125640	NM_003844	A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343869	0.01277	.	.	ENSG00000104689	ENST00000221132	D	0.83992	-1.79	2.46	-4.92	0.03075	.	.	.	.	.	T	0.55986	0.1955	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.48937	-0.8990	9	0.09338	T	0.73	.	2.9791	0.05947	0.264:0.177:0.4509:0.1081	.	113	O00220	TR10A_HUMAN	F	113	ENSP00000221132:L113F	ENSP00000221132:L113F	L	-	1	0	TNFRSF10A	23125640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.247000	0.00266	-1.698000	0.01418	-2.899000	0.00093	CTT		0.468	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844	
ENTPD4	9583	broad.mit.edu	37	8	23291840	23291840	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:23291840G>T	ENST00000358689.4	-	12	1847	c.1612C>A	c.(1612-1614)Cta>Ata	p.L538I	ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Missense_Mutation_p.L530I|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L530I	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	538					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.L538I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTTAATGGTAGAAAGCGGGTC	0.473																																					p.L530I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1588A	8						.						125.0	117.0	120.0					8																	23291840		2203	4300	6503	23347785	SO:0001583	missense	9583	exon12			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1612C>A	8.37:g.23291840G>T	ENSP00000351520:p.Leu538Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23347785	NM_001128930	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555471	0.45487	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.51	0.98	0.19750	.	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	L	0.41492	1.28	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.976;0.99	T	0.03619	-1.1019	10	0.22706	T	0.39	-11.8672	8.4124	0.32651	0.6594:0.0:0.3406:0.0	.	530;530;538	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	I	133;530;538;530	ENSP00000430579:L133I;ENSP00000348536:L530I;ENSP00000351520:L538I;ENSP00000408573:L530I	ENSP00000348536:L530I	L	-	1	2	ENTPD4	23347785	0.990000	0.36364	0.962000	0.40283	0.977000	0.68977	1.386000	0.34419	0.186000	0.20125	-0.345000	0.07892	CTA		0.473	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
ADAM7	8756	broad.mit.edu	37	8	24346790	24346790	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:24346790T>G	ENST00000175238.6	+	12	1293	c.1210T>G	c.(1210-1212)Ttt>Gtt	p.F404V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F404V|ADAM7_ENST00000520720.1_Missense_Mutation_p.F176V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	404	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F404V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGATTTCCAATTTTGTGGAAA	0.378																																					p.F404V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1210G	8						.						117.0	100.0	106.0					8																	24346790		2203	4300	6503	24402680	SO:0001583	missense	8756	exon12			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1210T>G	8.37:g.24346790T>G	ENSP00000175238:p.Phe404Val	Somatic		Capture	Illumina HiSeq	Phase_I	24402680	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	0.842	-0.741624	0.03088	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.45668	1.81;1.81;0.89	5.74	-1.45	0.08828	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	1.859780	0.02471	N	0.087485	T	0.12987	0.0315	N	0.02158	-0.66	0.09310	N	1	B;B	0.23937	0.094;0.094	B;B	0.16722	0.016;0.016	T	0.20739	-1.0266	10	0.06099	T	0.92	.	0.3392	0.00331	0.2853:0.252:0.1338:0.3288	.	176;404	E5RK87;Q9H2U9	.;ADAM7_HUMAN	V	404;404;176;219	ENSP00000175238:F404V;ENSP00000370166:F404V;ENSP00000430400:F176V	ENSP00000175238:F404V	F	+	1	0	ADAM7	24402680	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.128000	0.10531	0.087000	0.17167	0.533000	0.62120	TTT		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADAM7	8756	broad.mit.edu	37	8	24349484	24349484	+	Silent	SNP	C	C	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:24349484C>G	ENST00000175238.6	+	14	1508	c.1425C>G	c.(1423-1425)ggC>ggG	p.G475G	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.G475G|ADAM7_ENST00000520720.1_Silent_p.G247G	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	475	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G475G(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGCACTGGCCACTCGCCTG	0.468																																					p.G475G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1425G	8						.						87.0	80.0	82.0					8																	24349484		2203	4300	6503	24405374	SO:0001819	synonymous_variant	8756	exon14			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1425C>G	8.37:g.24349484C>G		Somatic		Capture	Illumina HiSeq	Phase_I	24405374	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	CCDS6045.1																																																																																				0.468	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADAM7	8756	broad.mit.edu	37	8	24349566	24349566	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:24349566A>G	ENST00000175238.6	+	14	1590	c.1507A>G	c.(1507-1509)Aaa>Gaa	p.K503E	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.K503E|ADAM7_ENST00000520720.1_Missense_Mutation_p.K275E	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	503	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K503E(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCATGGGGAAATGTCCAAC	0.473																																					p.K503E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1507G	8						.						130.0	127.0	128.0					8																	24349566		2203	4299	6502	24405456	SO:0001583	missense	8756	exon14			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1507A>G	8.37:g.24349566A>G	ENSP00000175238:p.Lys503Glu	Somatic		Capture	Illumina HiSeq	Phase_I	24405456	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591538	0.46214	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.21932	1.98;1.98;1.98	5.65	3.24	0.37175	ADAM, cysteine-rich (2);	0.448907	0.20690	N	0.087476	T	0.13329	0.0323	L	0.41079	1.255	0.24045	N	0.996063	B;P	0.39352	0.136;0.669	B;B	0.38156	0.033;0.266	T	0.15065	-1.0450	10	0.06494	T	0.89	.	6.8302	0.23905	0.7606:0.158:0.0815:0.0	.	275;503	E5RK87;Q9H2U9	.;ADAM7_HUMAN	E	503;503;275;318	ENSP00000175238:K503E;ENSP00000370166:K503E;ENSP00000430400:K275E	ENSP00000175238:K503E	K	+	1	0	ADAM7	24405456	0.972000	0.33761	0.872000	0.34217	0.861000	0.49209	1.575000	0.36493	0.412000	0.25729	0.482000	0.46254	AAA		0.473	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
NEFM	4741	broad.mit.edu	37	8	24772061	24772061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:24772061C>T	ENST00000221166.5	+	1	1537	c.755C>T	c.(754-756)tCg>tTg	p.S252L	NEFM_ENST00000518131.1_Missense_Mutation_p.S252L|NEFM_ENST00000437366.2_Missense_Mutation_p.S252L|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	252	Linker 12.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.S252L(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCCAGGCATCGCACATCACG	0.592																																					p.S252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C755T	8						.						103.0	85.0	91.0					8																	24772061		2203	4300	6503	24827966	SO:0001583	missense	4741	exon1			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.755C>T	8.37:g.24772061C>T	ENSP00000221166:p.Ser252Leu	Somatic		Capture	Illumina HiSeq	Phase_I	24827966	NM_005382	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915086	0.52546	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	5.0	4.12	0.48240	Filament (1);	0.000000	0.41823	D	0.000807	D	0.93200	0.7834	M	0.86740	2.835	0.80722	D	1	D;P	0.65815	0.995;0.641	P;B	0.55112	0.769;0.117	D	0.94052	0.7319	10	0.87932	D	0	.	13.6513	0.62312	0.0:0.9245:0.0:0.0755	.	252;252	E7EMV2;P07197	.;NFM_HUMAN	L	252	ENSP00000221166:S252L;ENSP00000427872:S252L;ENSP00000410137:S252L	ENSP00000221166:S252L	S	+	2	0	NEFM	24827966	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	5.995000	0.70631	1.236000	0.43740	-0.384000	0.06662	TCG		0.592	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
DOCK5	80005	broad.mit.edu	37	8	25154087	25154087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:25154087G>A	ENST00000276440.7	+	7	573	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	DOCK5_ENST00000481100.1_Missense_Mutation_p.E177K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	177					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E177K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACCCTGACGAAACCAGCAC	0.502																																					p.E177K	Pancreas(145;34 1887 3271 10937 30165)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G529A	8						.						115.0	96.0	103.0					8																	25154087		2203	4300	6503	25210004	SO:0001583	missense	80005	exon7				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.529G>A	8.37:g.25154087G>A	ENSP00000276440:p.Glu177Lys	Somatic		Capture	Illumina HiSeq	Phase_I	25210004	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	3.968	-0.008986	0.07727	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.55930	0.49;0.49	5.65	3.81	0.43845	.	0.448064	0.23844	N	0.044020	T	0.29190	0.0726	N	0.12182	0.205	0.29821	N	0.830847	B	0.02656	0.0	B	0.04013	0.001	T	0.14254	-1.0479	10	0.06365	T	0.9	.	11.8148	0.52204	0.0667:0.1227:0.8106:0.0	.	177	Q9H7D0	DOCK5_HUMAN	K	177	ENSP00000429737:E177K;ENSP00000276440:E177K	ENSP00000276440:E177K	E	+	1	0	DOCK5	25210004	0.999000	0.42202	1.000000	0.80357	0.526000	0.34562	1.758000	0.38410	1.604000	0.50143	0.655000	0.94253	GAA		0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CDCA2	157313	broad.mit.edu	37	8	25319670	25319670	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:25319670G>A	ENST00000330560.3	+	4	810	c.333G>A	c.(331-333)caG>caA	p.Q111Q	CDCA2_ENST00000380665.3_Silent_p.Q96Q	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	111					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q111Q(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTGCTCGGCAGCAAAATATAA	0.423																																					p.Q111Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	8						.						93.0	94.0	94.0					8																	25319670		2203	4300	6503	25375587	SO:0001819	synonymous_variant	157313	exon4			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.333G>A	8.37:g.25319670G>A		Somatic		Capture	Illumina HiSeq	Phase_I	25375587	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
EBF2	64641	broad.mit.edu	37	8	25745485	25745485	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:25745485G>A	ENST00000520164.1	-	9	1292	c.755C>T	c.(754-756)aCc>aTc	p.T252I	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Missense_Mutation_p.T104I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	252					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T252I(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GATGCAGGGGGTAGCTAAGAA	0.498																																					p.T252I	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C755T	8						.						77.0	76.0	76.0					8																	25745485		1978	4188	6166	25801402	SO:0001583	missense	64641	exon9			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.755C>T	8.37:g.25745485G>A	ENSP00000430241:p.Thr252Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25801402	NM_022659	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799833	0.90538	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.47177	0.86;0.85	6.08	6.08	0.98989	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.64058	-0.6496	10	0.72032	D	0.01	-0.8169	20.6634	0.99662	0.0:0.0:1.0:0.0	.	252	Q9HAK2	COE2_HUMAN	I	252;104	ENSP00000430241:T252I;ENSP00000386178:T104I	ENSP00000386178:T104I	T	-	2	0	EBF2	25801402	1.000000	0.71417	0.988000	0.46212	0.907000	0.53573	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	ACC		0.498	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
DPYSL2	1808	broad.mit.edu	37	8	26501616	26501616	+	Intron	SNP	C	C	T	rs557783598		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:26501616C>T	ENST00000311151.5	+	10	1522				DPYSL2_ENST00000523027.1_Intron|DPYSL2_ENST00000521913.1_Intron	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.?(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGGTAAGGAGCGATGGCCTCA	0.572																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						94.0	76.0	82.0					8																	26501616		2203	4300	6503	26557533	SO:0001627	intron_variant	1808	.			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1110+9C>T	8.37:g.26501616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26557533	.	A8K5H2|B4DR31|D3DSS7|O00424	Intron	SNP	ENST00000311151.5	37	CCDS6051.1																																																																																				0.572	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
ADRA1A	148	broad.mit.edu	37	8	26627981	26627981	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:26627981C>T	ENST00000519229.1	-	2	1092	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.P362P|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Silent_p.P362P|ADRA1A_ENST00000380573.3_Silent_p.P362P|ADRA1A_ENST00000380582.3_Silent_p.P362P|ADRA1A_ENST00000380586.1_Silent_p.P362P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	322					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.P362P(4)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCTGGCTGGGCGGGTGCAGGG	0.552																																					p.P362P												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G1086A	8						.						132.0	129.0	130.0					8																	26627981		2203	4300	6503	26683898	SO:0001819	synonymous_variant	148	exon2			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1086G>A	8.37:g.26627981C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26683898	NM_033304	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.552	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
ADRA1A	148	broad.mit.edu	37	8	26628138	26628138	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:26628138A>G	ENST00000519229.1	-	2	935	c.929T>C	c.(928-930)aTa>aCa	p.I310T	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.I310T|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.I310T|ADRA1A_ENST00000380573.3_Missense_Mutation_p.I310T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.I310T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.I310T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	386					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.I310T(4)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCAAAATACTATTTTAAAAAC	0.393																																					p.I310T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T929C	8						.						66.0	74.0	71.0					8																	26628138		2201	4299	6500	26684055	SO:0001583	missense	148	exon2			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.929T>C	8.37:g.26628138A>G	ENSP00000430793:p.Ile310Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26684055	NM_033304	Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.260268	0.80246	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.058336	0.64402	D	0.000003	T	0.53190	0.1781	L	0.52126	1.63	0.80722	D	1	P;P;D;P	0.56746	0.949;0.936;0.977;0.891	P;P;P;P	0.55667	0.781;0.457;0.73;0.777	T	0.52815	-0.8525	10	0.51188	T	0.08	.	15.8862	0.79251	1.0:0.0:0.0:0.0	.	310;310;310;310	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	T	310	ENSP00000369960:I310T;ENSP00000369956:I310T;ENSP00000430793:I310T;ENSP00000346557:I310T;ENSP00000276393:I310T;ENSP00000369947:I310T	ENSP00000276393:I310T	I	-	2	0	ADRA1A	26684055	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.310000	0.96267	2.236000	0.73375	0.533000	0.62120	ATA		0.393	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
TRIM35	23087	broad.mit.edu	37	8	27151726	27151726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27151726C>A	ENST00000305364.4	-	3	716	c.633G>T	c.(631-633)gaG>gaT	p.E211D	TRIM35_ENST00000521253.1_Missense_Mutation_p.E179D	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	211					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E211D(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCCTTGTCTCCTCGGCCATGG	0.582																																					p.E211D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G633T	8						.						91.0	77.0	82.0					8																	27151726		2203	4300	6503	27207643	SO:0001583	missense	23087	exon3			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.633G>T	8.37:g.27151726C>A	ENSP00000301924:p.Glu211Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27207643	NM_171982	Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	9.243	1.038754	0.19669	.	.	ENSG00000104228	ENST00000305364;ENST00000380544;ENST00000521253	T;T	0.68025	-0.25;-0.3	5.29	0.128	0.14733	.	1.640470	0.03348	N	0.195767	T	0.66336	0.2779	M	0.81112	2.525	0.33476	D	0.586793	B;B	0.20887	0.049;0.02	B;B	0.22386	0.039;0.024	T	0.49716	-0.8910	10	0.45353	T	0.12	.	2.6062	0.04878	0.2481:0.4737:0.1214:0.1568	.	179;211	E5RGB3;Q9UPQ4	.;TRI35_HUMAN	D	211;211;179	ENSP00000301924:E211D;ENSP00000428770:E179D	ENSP00000301924:E211D	E	-	3	2	TRIM35	27207643	0.127000	0.22367	0.055000	0.19348	0.285000	0.27093	0.057000	0.14279	-0.399000	0.07668	-2.589000	0.00165	GAG		0.582	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982	
CHRNA2	1135	broad.mit.edu	37	8	27327349	27327349	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27327349G>A	ENST00000520933.2	-	2	376	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CHRNA2_ENST00000407991.1_Missense_Mutation_p.R75C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R75C			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	75					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.R75C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GGCACCGGGCGCGCCCAGCGG	0.637																																					p.R75C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223T	8						.						107.0	101.0	103.0					8																	27327349		2203	4300	6503	27383266	SO:0001583	missense	1135	exon3			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.223C>T	8.37:g.27327349G>A	ENSP00000429616:p.Arg75Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27383266	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599163	0.66332	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.77	0.661	0.17874	Neurotransmitter-gated ion-channel ligand-binding (3);	0.049531	0.85682	D	0.000000	D	0.83815	0.5336	H	0.98487	4.245	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82061	-0.0644	10	0.87932	D	0	.	7.5908	0.28019	0.0844:0.0:0.2978:0.6178	.	75;75	B4DK19;Q15822	.;ACHA2_HUMAN	C	75	ENSP00000385026:R75C;ENSP00000429616:R75C;ENSP00000240132:R75C;ENSP00000430422:R75C;ENSP00000430856:R75C	ENSP00000240132:R75C	R	-	1	0	CHRNA2	27383266	0.948000	0.32251	0.367000	0.25926	0.995000	0.86356	1.471000	0.35365	0.011000	0.14865	0.561000	0.74099	CGC		0.637	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
ESCO2	157570	broad.mit.edu	37	8	27634629	27634629	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27634629G>A	ENST00000305188.8	+	3	1042	c.804G>A	c.(802-804)gaG>gaA	p.E268E	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	268					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.E268E(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCCTAGAAGAGAAATTGAAAA	0.323									SC Phocomelia syndrome																												p.E268E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804A	8						.						47.0	51.0	50.0					8																	27634629		2202	4299	6501	27690548	SO:0001819	synonymous_variant	157570	exon3	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.804G>A	8.37:g.27634629G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27690548	NM_001017420	B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	CCDS34872.1																																																																																				0.323	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
ESCO2	157570	broad.mit.edu	37	8	27650200	27650200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27650200G>T	ENST00000305188.8	+	9	1607	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	ESCO2_ENST00000397418.2_Nonsense_Mutation_p.E105*	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	457					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.E457*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGATGTCCAAGAACTTGTTGA	0.289									SC Phocomelia syndrome																												p.E457X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1369T	8						.						57.0	56.0	56.0					8																	27650200		2203	4296	6499	27706119	SO:0001587	stop_gained	157570	exon9	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1369G>T	8.37:g.27650200G>T	ENSP00000306999:p.Glu457*	Somatic		Capture	Illumina HiSeq	Phase_I	27706119	NM_001017420	B3KW59|Q49AP4	Nonsense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	G	40	8.173690	0.98688	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	.	.	.	5.97	5.09	0.68999	.	0.154071	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.493	12.8284	0.57733	0.0786:0.0:0.9214:0.0	.	.	.	.	X	457;105	.	ENSP00000306999:E457X	E	+	1	0	ESCO2	27706119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.107000	0.50329	1.535000	0.49220	0.591000	0.81541	GAA		0.289	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
PBK	55872	broad.mit.edu	37	8	27680651	27680651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27680651C>T	ENST00000301905.4	-	4	687	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	PBK_ENST00000522944.1_Missense_Mutation_p.R75Q	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R75Q(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		ATACACACTTCGATAATGATC	0.323																																					p.R75Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G224A	8						.						79.0	76.0	77.0					8																	27680651		2203	4296	6499	27736570	SO:0001583	missense	55872	exon4			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.224G>A	8.37:g.27680651C>T	ENSP00000301905:p.Arg75Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27736570	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	9.165	1.019729	0.19355	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.63913	-0.07;-0.07	5.69	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.392655	0.29218	N	0.012784	T	0.40196	0.1107	N	0.21282	0.65	0.29889	N	0.825385	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.22591	-1.0212	10	0.17369	T	0.5	-7.1357	4.6849	0.12754	0.0:0.251:0.0:0.749	.	75;75	B4DX68;Q96KB5	.;TOPK_HUMAN	Q	75	ENSP00000301905:R75Q;ENSP00000428489:R75Q	ENSP00000301905:R75Q	R	-	2	0	PBK	27736570	0.986000	0.35501	0.976000	0.42696	0.986000	0.74619	2.009000	0.40903	0.705000	0.31890	0.655000	0.94253	CGA		0.323	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492	
PBK	55872	broad.mit.edu	37	8	27690596	27690596	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27690596T>C	ENST00000301905.4	-	2	498	c.35A>G	c.(34-36)aAa>aGa	p.K12R	PBK_ENST00000522944.1_Missense_Mutation_p.K12R	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	12					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K12R(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTCTGATAATTTGCTTGGTGT	0.308																																					p.K12R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A35G	8						.						138.0	125.0	129.0					8																	27690596		2203	4300	6503	27746515	SO:0001583	missense	55872	exon2			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.35A>G	8.37:g.27690596T>C	ENSP00000301905:p.Lys12Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27746515	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892189	0.72524	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	D;D	0.85556	-1.87;-2.0	5.4	4.24	0.50183	Protein kinase-like domain (1);	0.141665	0.64402	N	0.000007	T	0.77942	0.4206	L	0.49126	1.545	0.30998	N	0.720681	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.69165	-0.5217	10	0.21014	T	0.42	-16.2635	7.6962	0.28596	0.0:0.0995:0.0:0.9005	.	12;12	B4DX68;Q96KB5	.;TOPK_HUMAN	R	12	ENSP00000301905:K12R;ENSP00000428489:K12R	ENSP00000301905:K12R	K	-	2	0	PBK	27746515	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	1.551000	0.36233	0.982000	0.38575	0.533000	0.62120	AAA		0.308	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492	
NUGGC	389643	broad.mit.edu	37	8	27925026	27925026	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:27925026G>A	ENST00000413272.2	-	6	854				NUGGC_ENST00000341513.6_Intron	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated						cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)									CGAACTTGACGCTACCTCTTC	0.478																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						54.0	53.0	54.0					8																	27925026		1965	4154	6119	27980945	SO:0001627	intron_variant	389643	.			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.711+4C>T	8.37:g.27925026G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27980945	.	Q6ZP73	Intron	SNP	ENST00000413272.2	37	CCDS47833.1																																																																																				0.478	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
FZD3	7976	broad.mit.edu	37	8	28378335	28378335	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:28378335G>T	ENST00000240093.3	+	4	848	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	FZD3_ENST00000537916.1_Missense_Mutation_p.D124Y	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	124	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D124Y(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGCCTGAAGATATGGAATG	0.413																																					p.D124Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370T	8						.						172.0	161.0	165.0					8																	28378335		2203	4300	6503	28434254	SO:0001583	missense	7976	exon3			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.370G>T	8.37:g.28378335G>T	ENSP00000240093:p.Asp124Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28434254	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297026	0.81025	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.79141	-1.24;-1.24	5.52	5.52	0.82312	Frizzled domain (5);	0.102003	0.64402	D	0.000002	T	0.77877	0.4196	N	0.17631	0.505	0.80722	D	1	P	0.42993	0.797	P	0.53102	0.718	T	0.80717	-0.1258	10	0.72032	D	0.01	.	18.4125	0.90557	0.0:0.0:1.0:0.0	.	124	Q9NPG1	FZD3_HUMAN	Y	124	ENSP00000437489:D124Y;ENSP00000240093:D124Y	ENSP00000240093:D124Y	D	+	1	0	FZD3	28434254	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.476000	0.97823	2.601000	0.87937	0.460000	0.39030	GAT		0.413	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
FZD3	7976	broad.mit.edu	37	8	28420409	28420409	+	Missense_Mutation	SNP	C	C	T	rs200915090		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:28420409C>T	ENST00000240093.3	+	8	2360	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	FZD3_ENST00000537916.1_Missense_Mutation_p.R628W	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	628					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R628W(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGTTCTCATCGGCTCAATGA	0.473																																					p.R628W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1882T	8						.						144.0	111.0	122.0					8																	28420409		2203	4300	6503	28476328	SO:0001583	missense	7976	exon7			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1882C>T	8.37:g.28420409C>T	ENSP00000240093:p.Arg628Trp	Somatic		Capture	Illumina HiSeq	Phase_I	28476328	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860755	0.71834	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.79454	-1.27;-1.27	5.35	5.35	0.76521	.	0.259259	0.37623	N	0.002001	T	0.68933	0.3055	L	0.27053	0.805	0.48762	D	0.999707	D	0.69078	0.997	B	0.44315	0.446	T	0.74044	-0.3791	10	0.72032	D	0.01	.	13.3864	0.60799	0.1574:0.8426:0.0:0.0	.	628	Q9NPG1	FZD3_HUMAN	W	628	ENSP00000437489:R628W;ENSP00000240093:R628W	ENSP00000240093:R628W	R	+	1	2	FZD3	28476328	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.386000	0.66238	2.667000	0.90743	0.591000	0.81541	CGG		0.473	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
KIF13B	23303	broad.mit.edu	37	8	28988068	28988068	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:28988068T>C	ENST00000524189.1	-	24	3095	c.3057A>G	c.(3055-3057)ggA>ggG	p.G1019G	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1019					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.G1019G(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCTGGAAGATTCCTCCTGTTG	0.413																																					p.G1019G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3057G	8						.						135.0	128.0	131.0					8																	28988068		1882	4116	5998	29043987	SO:0001819	synonymous_variant	23303	exon24			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3057A>G	8.37:g.28988068T>C		Somatic		Capture	Illumina HiSeq	Phase_I	29043987	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																				0.413	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu	37	8	29013284	29013284	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:29013284C>T	ENST00000524189.1	-	14	1532	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	KIF13B_ENST00000521515.1_Silent_p.T498T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	498	FHA.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.T498T(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGCCTTCTGACGTGATGTCTA	0.398																																					p.T498T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1494A	8						.						103.0	103.0	103.0					8																	29013284		2184	4290	6474	29069203	SO:0001819	synonymous_variant	23303	exon14			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1494G>A	8.37:g.29013284C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29069203	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																				0.398	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu	37	8	29046119	29046119	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:29046119C>A	ENST00000524189.1	-	5	267	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	KIF13B_ENST00000521515.1_Missense_Mutation_p.D77Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	77	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.D77Y(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AAAACAATATCTTGACCTGAG	0.323																																					p.D77Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229T	8						.						63.0	55.0	58.0					8																	29046119		1826	4082	5908	29102038	SO:0001583	missense	23303	exon5			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.229G>T	8.37:g.29046119C>A	ENSP00000427900:p.Asp77Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29102038	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527201	0.64860	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.75477	-0.94;-0.94	4.75	4.75	0.60458	.	0.054132	0.64402	D	0.000001	D	0.82806	0.5117	L	0.58428	1.81	0.80722	D	1	D;P	0.56287	0.975;0.878	P;P	0.60886	0.88;0.69	D	0.84747	0.0754	10	0.87932	D	0	.	18.3044	0.90175	0.0:1.0:0.0:0.0	.	63;77	C9JK41;F8VPJ2	.;.	Y	77	ENSP00000427900:D77Y;ENSP00000429201:D77Y	ENSP00000429201:D77Y	D	-	1	0	KIF13B	29102038	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.546000	0.82137	2.638000	0.89438	0.467000	0.42956	GAT		0.323	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
TEX15	56154	broad.mit.edu	37	8	30701515	30701515	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:30701515G>A	ENST00000256246.2	-	1	5093	c.5019C>T	c.(5017-5019)aaC>aaT	p.N1673N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1673					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.N1673N(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTCCACAGGTTTTGGTCTA	0.333																																					p.N1673N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5019T	8						.						107.0	108.0	108.0					8																	30701515		2203	4299	6502	30821057	SO:0001819	synonymous_variant	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5019C>T	8.37:g.30701515G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30821057	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30703144	30703144	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:30703144T>C	ENST00000256246.2	-	1	3464	c.3390A>G	c.(3388-3390)gaA>gaG	p.E1130E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1130	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1130E(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTCAGGATGTTCTTGATTAC	0.403																																					p.E1130E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3390G	8						.						97.0	85.0	89.0					8																	30703144		2203	4300	6503	30822686	SO:0001819	synonymous_variant	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3390A>G	8.37:g.30703144T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30822686	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
WRN	7486	broad.mit.edu	37	8	30916744	30916744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:30916744G>A	ENST00000298139.5	+	3	421	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	58	Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.D58N(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTATAGTTACGATGCTAGTGA	0.353			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.D58N	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	8						.						235.0	209.0	217.0					8																	30916744		2203	4300	6503	31036286	SO:0001583	missense	7486	exon3	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.172G>A	8.37:g.30916744G>A	ENSP00000298139:p.Asp58Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31036286	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963162	0.34659	.	.	ENSG00000165392	ENST00000298139	T	0.46063	0.88	5.83	5.83	0.93111	-5&apos (1); exonuclease (1);3&apos (1);	0.118294	0.53938	D	0.000043	T	0.24851	0.0603	N	0.08118	0	0.25521	N	0.987369	B	0.12013	0.005	B	0.10450	0.005	T	0.14980	-1.0453	10	0.48119	T	0.1	-11.0474	12.2414	0.54544	0.0786:0.0:0.9214:0.0	.	58	Q14191	WRN_HUMAN	N	58	ENSP00000298139:D58N	ENSP00000298139:D58N	D	+	1	0	WRN	31036286	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	4.273000	0.58914	2.761000	0.94854	0.650000	0.86243	GAT		0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
NRG1	3084	broad.mit.edu	37	8	32505741	32505741	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:32505741T>G	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.S169A			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S169A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTTGAACCATCAGCGGCACC	0.517																																					p.S169A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T505G	8						.						228.0	185.0	200.0					8																	32505741		2203	4300	6503	32625283	SO:0001627	intron_variant	3084	exon1			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31338T>G	8.37:g.32505741T>G		Somatic		Capture	Illumina HiSeq	Phase_I	32625283	NM_013959	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.272102	0.01421	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	-7.61	0.01299	.	.	.	.	.	T	0.20455	0.0492	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16748	-1.0392	8	0.26408	T	0.33	.	5.0112	0.14313	0.0979:0.1806:0.5028:0.2186	.	169;169	Q53F54;Q02297-10	.;.	A	169;129	.	ENSP00000433289:S169A	S	+	1	0	NRG1	32625283	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.193000	0.17116	-1.566000	0.01673	-0.313000	0.08912	TCA		0.517	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
NRG1	3084	broad.mit.edu	37	8	32613973	32613973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:32613973C>T	ENST00000405005.3	+	9	856	c.856C>T	c.(856-858)Cga>Tga	p.R286*	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Nonsense_Mutation_p.R129*|NRG1_ENST00000523079.1_Nonsense_Mutation_p.R283*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.R286*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.R294*|NRG1_ENST00000519301.1_Nonsense_Mutation_p.R236*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.R283*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.R291*|NRG1_ENST00000287845.5_Nonsense_Mutation_p.R257*			Q02297	NRG1_HUMAN	neuregulin 1	286					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R291*(1)|p.R286*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCGGTCTGAACGAAACAATAT	0.453																																					p.R283X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C847T	8						.						141.0	136.0	138.0					8																	32613973		2203	4300	6503	32733515	SO:0001587	stop_gained	3084	exon9			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.856C>T	8.37:g.32613973C>T	ENSP00000384620:p.Arg286*	Somatic		Capture	Illumina HiSeq	Phase_I	32733515	NM_001160008	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	39	7.411546	0.98269	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000519240;ENST00000539990	.	.	.	5.96	3.11	0.35812	.	0.115859	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0737	15.7615	0.78082	0.5774:0.4226:0.0:0.0	.	.	.	.	X	253;236;359;283;294;291;286;257;283;286;286;129;129	.	ENSP00000287840:R286X	R	+	1	2	NRG1	32733515	0.159000	0.22864	0.055000	0.19348	0.975000	0.68041	0.707000	0.25704	0.373000	0.24621	0.655000	0.94253	CGA		0.453	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
TTI2	80185	broad.mit.edu	37	8	33367287	33367287	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:33367287G>A	ENST00000431156.2	-	3	1429	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.L271F|TTI2_ENST00000520636.1_Missense_Mutation_p.L271F	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	271								p.L271F(2)									ATGTGATGGAGACAGTGTACA	0.468																																					p.L271F												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C811T	8						.						195.0	160.0	172.0					8																	33367287		2203	4300	6503	33486829	SO:0001583	missense	80185	exon2			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.811C>T	8.37:g.33367287G>A	ENSP00000411169:p.Leu271Phe	Somatic		Capture	Illumina HiSeq	Phase_I	33486829	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956654	0.73902	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	D;D;D	0.91631	-2.88;-2.88;-2.88	5.88	4.07	0.47477	.	0.076830	0.50627	D	0.000113	D	0.94925	0.8359	M	0.75264	2.295	0.49915	D	0.999835	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71414	0.973;0.961;0.961	D	0.94304	0.7539	10	0.72032	D	0.01	-11.1213	10.7156	0.46011	0.0685:0.0:0.7988:0.1327	.	271;271;271	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	F	271	ENSP00000353971:L271F;ENSP00000411169:L271F;ENSP00000428401:L271F	ENSP00000353971:L271F	L	-	1	0	C8orf41	33486829	1.000000	0.71417	0.987000	0.45799	0.853000	0.48598	2.461000	0.45040	0.792000	0.33850	0.655000	0.94253	CTC		0.468	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
UNC5D	137970	broad.mit.edu	37	8	35425736	35425736	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:35425736G>T	ENST00000404895.2	+	3	771	c.443G>T	c.(442-444)aGg>aTg	p.R148M	UNC5D_ENST00000416672.1_Missense_Mutation_p.R148M|UNC5D_ENST00000287272.2_Missense_Mutation_p.R148M|UNC5D_ENST00000453357.2_Missense_Mutation_p.R143M|UNC5D_ENST00000420357.1_Missense_Mutation_p.R148M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	148	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R143M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCAAGAGCAGGAAGGCCTCT	0.507																																					p.R148M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443T	8						.						131.0	127.0	129.0					8																	35425736		2203	4300	6503	35545278	SO:0001583	missense	137970	exon3			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.443G>T	8.37:g.35425736G>T	ENSP00000385143:p.Arg148Met	Somatic		Capture	Illumina HiSeq	Phase_I	35545278	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326883	0.81690	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.62006	-0.6945	10	0.87932	D	0	-15.7753	18.7938	0.91985	0.0:0.0:1.0:0.0	.	143;148	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	M	148;148;148;148;143	ENSP00000385143:R148M;ENSP00000392739:R148M;ENSP00000287272:R148M;ENSP00000412652:R148M;ENSP00000394303:R143M	ENSP00000287272:R148M	R	+	2	0	UNC5D	35545278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.972000	0.88022	2.443000	0.82685	0.655000	0.94253	AGG		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu	37	8	35563458	35563458	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:35563458C>A	ENST00000404895.2	+	8	1424	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	UNC5D_ENST00000416672.1_Missense_Mutation_p.L366I|UNC5D_ENST00000287272.2_Missense_Mutation_p.L310I|UNC5D_ENST00000453357.2_Missense_Mutation_p.L361I|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	366					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L361I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TAAAAAACCTCTTCATGAAAT	0.294																																					p.L366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096A	8						.						40.0	40.0	40.0					8																	35563458		2197	4295	6492	35683000	SO:0001583	missense	137970	exon8			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1096C>A	8.37:g.35563458C>A	ENSP00000385143:p.Leu366Ile	Somatic		Capture	Illumina HiSeq	Phase_I	35683000	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860830	0.71834	.	.	ENSG00000156687	ENST00000404895;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T	0.55760	0.53;0.94;0.56;0.5	5.44	5.44	0.79542	.	0.346876	0.31246	N	0.007987	T	0.43166	0.1235	N	0.08118	0	0.80722	D	1	P;P	0.51537	0.946;0.851	P;B	0.48840	0.592;0.141	T	0.37384	-0.9708	10	0.25751	T	0.34	-15.8985	19.6156	0.95632	0.0:1.0:0.0:0.0	.	361;366	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	I	366;310;366;361	ENSP00000385143:L366I;ENSP00000287272:L310I;ENSP00000412652:L366I;ENSP00000394303:L361I	ENSP00000287272:L310I	L	+	1	0	UNC5D	35683000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.967000	0.63722	2.702000	0.92279	0.655000	0.94253	CTT		0.294	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	broad.mit.edu	37	8	36746370	36746370	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:36746370C>A	ENST00000399881.3	+	20	2046					NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1						multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAGCACATCTTTGCTAATT	0.363																																					.												.	.	0			.	8						.						17.0	16.0	16.0					8																	36746370		1978	4207	6185	36865528	SO:0001627	intron_variant	157855	.			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2010-16856C>A	8.37:g.36746370C>A		Somatic		Capture	Illumina HiSeq	Phase_I	36865528	.		Intron	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.363	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
GPR124	25960	broad.mit.edu	37	8	37672480	37672480	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:37672480G>A	ENST00000412232.2	+	2	346	c.333G>A	c.(331-333)gaG>gaA	p.E111E	GPR124_ENST00000315215.7_Silent_p.E111E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	111					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E104E(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACTGCTGGAGAAGCTGTAAG	0.597																																					p.E111E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	8						.						102.0	96.0	98.0					8																	37672480		2203	4300	6503	37791638	SO:0001819	synonymous_variant	25960	exon2			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.333G>A	8.37:g.37672480G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37791638	NM_032777	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																				0.597	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
GPR124	25960	broad.mit.edu	37	8	37704411	37704411	+	IGR	SNP	G	G	A	rs140725525		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:37704411G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_Missense_Mutation_p.S166F|BRF2_ENST00000220659.6_Missense_Mutation_p.S166F	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S166F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAAGCACAGAGATGGCACATC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.0				p.S166F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	8						.						242.0	242.0	242.0					8																	37704411		2203	4300	6503	37823569	SO:0001628	intergenic_variant	55290	exon3			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37704411G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37823569	NM_018310	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.4	4.417065	0.83449	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.54	5.54	0.83059	Cyclin-like (1);	0.479442	0.23026	N	0.052797	T	0.59376	0.2189	L	0.39898	1.24	0.80722	D	1	P	0.52316	0.952	P	0.47645	0.553	T	0.62324	-0.6878	9	0.59425	D	0.04	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	166	Q9HAW0	BRF2_HUMAN	F	166;143;166	.	ENSP00000220659:S166F	S	-	2	0	BRF2	37823569	0.984000	0.35163	0.967000	0.41034	0.997000	0.91878	6.568000	0.73987	2.615000	0.88500	0.555000	0.69702	TCT		0.507	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
WHSC1L1	54904	broad.mit.edu	37	8	38162809	38162809	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:38162809G>A	ENST00000317025.8	-	13	2914	c.2397C>T	c.(2395-2397)tgC>tgT	p.C799C	WHSC1L1_ENST00000433384.2_Silent_p.C799C|WHSC1L1_ENST00000527502.1_Silent_p.C799C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	799					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C799C(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGCAGGCAGAGCAGCAGTGCT	0.438			T	NUP98	AML																																p.C799C			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2397T	8						.						97.0	89.0	92.0					8																	38162809		1958	4164	6122	38281966	SO:0001819	synonymous_variant	54904	exon13			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2397C>T	8.37:g.38162809G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38281966	NM_023034	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	CCDS43729.1																																																																																				0.438	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
HTRA4	203100	broad.mit.edu	37	8	38832616	38832616	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:38832616C>T	ENST00000302495.4	+	2	633	c.533C>T	c.(532-534)gCg>gTg	p.A178V	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	178					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.A178V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGAAGGTGGCGCCATCGGTG	0.577																																					p.A178V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C533T	8						.						132.0	130.0	131.0					8																	38832616		2203	4300	6503	38951773	SO:0001583	missense	203100	exon2			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.533C>T	8.37:g.38832616C>T	ENSP00000305919:p.Ala178Val	Somatic		Capture	Illumina HiSeq	Phase_I	38951773	NM_153692	Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883726	0.91814	.	.	ENSG00000169495	ENST00000302495	D	0.88124	-2.34	5.34	5.34	0.76211	Peptidase cysteine/serine, trypsin-like (1);	0.070994	0.53938	D	0.000057	D	0.93122	0.7810	M	0.83384	2.64	0.58432	D	0.999995	D	0.89917	1.0	P	0.59948	0.866	D	0.93877	0.7167	10	0.87932	D	0	-16.7323	18.2073	0.89859	0.0:1.0:0.0:0.0	.	178	P83105	HTRA4_HUMAN	V	178	ENSP00000305919:A178V	ENSP00000305919:A178V	A	+	2	0	HTRA4	38951773	0.993000	0.37304	1.000000	0.80357	0.752000	0.42762	3.086000	0.50159	2.689000	0.91719	0.462000	0.41574	GCG		0.577	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692	
TM2D2	83877	broad.mit.edu	37	8	38852976	38852976	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:38852976G>A	ENST00000456397.2	-	2	321				ADAM9_ENST00000487273.2_5'Flank|TM2D2_ENST00000456845.2_Missense_Mutation_p.A16V|ADAM9_ENST00000466936.1_5'Flank|TM2D2_ENST00000412303.1_Missense_Mutation_p.A16V|TM2D2_ENST00000397070.2_Missense_Mutation_p.A16V|TM2D2_ENST00000522434.1_Intron|ADAM9_ENST00000481513.1_5'Flank	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2							integral component of membrane (GO:0016021)		p.A16V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTTGCAAATCGCTGTTTGCAT	0.408																																					p.A16V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C47T	8						.						178.0	173.0	175.0					8																	38852976		2203	4300	6503	38972133	SO:0001627	intron_variant	83877	exon2			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.228-52C>T	8.37:g.38852976G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38972133	NM_031940	B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409081	0.62399	.	.	ENSG00000169490	ENST00000456845;ENST00000412303;ENST00000397070;ENST00000522142;ENST00000517872;ENST00000520152	.	.	.	5.55	2.83	0.33086	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30794	-0.9966	8	0.14252	T	0.57	.	7.7338	0.28802	0.2586:0.0:0.7414:0.0	.	16	Q9BX73-2	.	V	16	.	ENSP00000380260:A16V	A	-	2	0	TM2D2	38972133	0.824000	0.29247	0.021000	0.16686	0.005000	0.04900	2.895000	0.48648	0.317000	0.23160	-0.768000	0.03414	GCG		0.408	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940	
ADAM9	8754	broad.mit.edu	37	8	38899486	38899486	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:38899486T>C	ENST00000487273.2	+	12	1230	c.1152T>C	c.(1150-1152)agT>agC	p.S384S		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	384	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.S384S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACTTTAGCAGTTGCAGTGCAG	0.373																																					p.S384S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1152C	8						.						72.0	80.0	77.0					8																	38899486		2203	4300	6503	39018643	SO:0001819	synonymous_variant	8754	exon12			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1152T>C	8.37:g.38899486T>C		Somatic		Capture	Illumina HiSeq	Phase_I	39018643	NM_003816	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	CCDS6112.1																																																																																				0.373	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
ADAM32	203102	broad.mit.edu	37	8	39091507	39091507	+	Missense_Mutation	SNP	G	G	A	rs536001133		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:39091507G>A	ENST00000379907.4	+	16	1851	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	ADAM32_ENST00000437682.2_Missense_Mutation_p.R476Q|ADAM32_ENST00000519315.1_Missense_Mutation_p.R469Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	575						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R574Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GCTTTCGTACGAGATTCTGTA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12732	0.0		0.0	False		,,,				2504	0.0				p.R575Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1724A	8						.						77.0	68.0	70.0					8																	39091507		1857	4096	5953	39210664	SO:0001583	missense	203102	exon16			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1724G>A	8.37:g.39091507G>A	ENSP00000369238:p.Arg575Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39210664	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507520	0.44558	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.22134	1.97;1.97;1.97	4.88	2.92	0.33932	ADAM, cysteine-rich (2);	0.968320	0.08316	N	0.964580	T	0.28433	0.0703	L	0.38838	1.175	0.09310	N	1	D;D;P	0.76494	0.981;0.999;0.462	P;D;B	0.68483	0.72;0.958;0.169	T	0.21759	-1.0236	10	0.12103	T	0.63	.	5.0256	0.14383	0.1066:0.0:0.6705:0.2228	.	476;469;575	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	476;469;575	ENSP00000405978:R476Q;ENSP00000429422:R469Q;ENSP00000369238:R575Q	ENSP00000369238:R575Q	R	+	2	0	ADAM32	39210664	0.001000	0.12720	0.020000	0.16555	0.155000	0.21991	0.435000	0.21510	1.286000	0.44565	0.650000	0.86243	CGA		0.393	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
ADAM32	203102	broad.mit.edu	37	8	39112025	39112025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:39112025G>T	ENST00000379907.4	+	18	2122	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	ADAM32_ENST00000437682.2_Missense_Mutation_p.E566D|ADAM32_ENST00000519315.1_Missense_Mutation_p.E559D	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	665						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E664D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATTTCCTGAGGAAGATATGG	0.368																																					p.E665D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1995T	8						.						45.0	42.0	43.0					8																	39112025		1815	4070	5885	39231182	SO:0001583	missense	203102	exon18			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1995G>T	8.37:g.39112025G>T	ENSP00000369238:p.Glu665Asp	Somatic		Capture	Illumina HiSeq	Phase_I	39231182	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	2.151	-0.394399	0.04899	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87729	-2.29;-2.29;-2.29	3.93	-1.23	0.09465	.	0.793738	0.10219	N	0.701117	T	0.70482	0.3229	N	0.11427	0.14	0.09310	N	1	B;P;B;B	0.43287	0.001;0.802;0.005;0.037	B;B;B;B	0.40477	0.001;0.33;0.002;0.039	T	0.62613	-0.6817	10	0.30854	T	0.27	.	4.232	0.10608	0.3168:0.3349:0.3483:0.0	.	566;89;559;665	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	D	566;559;665	ENSP00000405978:E566D;ENSP00000429422:E559D;ENSP00000369238:E665D	ENSP00000369238:E665D	E	+	3	2	ADAM32	39231182	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.732000	0.04904	-0.272000	0.09259	0.462000	0.41574	GAG		0.368	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
ADAM18	8749	broad.mit.edu	37	8	39486897	39486897	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:39486897A>C	ENST00000265707.5	+	7	572	c.527A>C	c.(526-528)aAa>aCa	p.K176T	ADAM18_ENST00000379866.1_Missense_Mutation_p.K176T|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	176					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K176T(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCCAGATAAAAAATCTTTCA	0.289																																					p.K176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A527C	8						.						44.0	46.0	46.0					8																	39486897		2202	4292	6494	39606054	SO:0001583	missense	8749	exon7			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.527A>C	8.37:g.39486897A>C	ENSP00000265707:p.Lys176Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39606054	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	2.736	-0.263267	0.05754	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.01613	5.16;4.73	3.96	-2.14	0.07123	.	1.394370	0.04933	N	0.457284	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.48043	-0.9069	10	0.13108	T	0.6	.	4.4742	0.11727	0.3205:0.1889:0.0:0.4906	.	176;176	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	176;176;132	ENSP00000265707:K176T;ENSP00000369195:K176T	ENSP00000265707:K176T	K	+	2	0	ADAM18	39606054	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.790000	0.04604	-0.103000	0.12175	0.374000	0.22700	AAA		0.289	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM2	2515	broad.mit.edu	37	8	39613237	39613237	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:39613237G>T	ENST00000265708.4	-	16	1901				ADAM2_ENST00000379853.2_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGGAATAAAAGACTACCTACC	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						68.0	64.0	65.0					8																	39613237		2202	4299	6501	39732394	SO:0001627	intron_variant	2515	.			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1797+9C>A	8.37:g.39613237G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39732394	.	P78326|Q9UQQ8	Intron	SNP	ENST00000265708.4	37	CCDS34884.1																																																																																				0.408	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
ADAM2	2515	broad.mit.edu	37	8	39678582	39678582	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:39678582G>A	ENST00000265708.4	-	6	555	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ADAM2_ENST00000379853.2_Missense_Mutation_p.S151F|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S151F|ADAM2_ENST00000347580.4_Missense_Mutation_p.S151F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	151					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S151F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATTATATAAGGAAACATCTGC	0.323																																					p.S151F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	8						.						83.0	83.0	83.0					8																	39678582		2203	4295	6498	39797739	SO:0001583	missense	2515	exon6			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.452C>T	8.37:g.39678582G>A	ENSP00000265708:p.Ser151Phe	Somatic		Capture	Illumina HiSeq	Phase_I	39797739	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064154	0.20067	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02280	4.95;4.36;5.13;5.1	5.47	4.4	0.53042	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;P;B;B	0.39216	0.053;0.664;0.089;0.053	B;B;B;B	0.39617	0.055;0.305;0.118;0.055	T	0.54576	-0.8273	8	.	.	.	.	10.0375	0.42137	0.1063:0.0:0.8937:0.0	.	151;151;151;151	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	F	151	ENSP00000343854:S151F;ENSP00000369182:S151F;ENSP00000265708:S151F;ENSP00000429352:S151F	.	S	-	2	0	ADAM2	39797739	0.001000	0.12720	0.059000	0.19551	0.003000	0.03518	0.622000	0.24433	2.568000	0.86640	0.655000	0.94253	TCC		0.323	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
ZMAT4	79698	broad.mit.edu	37	8	40554908	40554908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:40554908C>T	ENST00000297737.6	-	4	351	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ZMAT4_ENST00000315769.7_Missense_Mutation_p.D69N	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	69						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D69N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCCACCATGTCGGCATCACTT	0.483																																					p.D69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205A	8						.						87.0	74.0	79.0					8																	40554908		2203	4300	6503	40674065	SO:0001583	missense	79698	exon4			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.205G>A	8.37:g.40554908C>T	ENSP00000297737:p.Asp69Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40674065	NM_024645	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238706	0.39598	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.41758	0.99;0.99;0.99	6.17	5.29	0.74685	.	0.235594	0.49916	D	0.000123	T	0.29190	0.0726	N	0.08118	0	0.38687	D	0.952683	D;B	0.65815	0.995;0.006	P;B	0.46479	0.518;0.002	T	0.16364	-1.0405	10	0.21014	T	0.42	-22.56	16.031	0.80577	0.1353:0.8647:0.0:0.0	.	69;69	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	N	69	ENSP00000319785:D69N;ENSP00000297737:D69N;ENSP00000428423:D69N	ENSP00000297737:D69N	D	-	1	0	ZMAT4	40674065	0.999000	0.42202	0.853000	0.33588	0.483000	0.33249	4.261000	0.58841	1.601000	0.50113	0.655000	0.94253	GAC		0.483	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
ANK1	286	broad.mit.edu	37	8	41530355	41530355	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:41530355T>C	ENST00000347528.4	-	38	4696	c.4613A>G	c.(4612-4614)gAc>gGc	p.D1538G	ANK1_ENST00000396945.1_Missense_Mutation_p.D1538G|ANK1_ENST00000379758.2_Missense_Mutation_p.D1538G|ANK1_ENST00000352337.4_Missense_Mutation_p.D1538G|ANK1_ENST00000289734.7_Missense_Mutation_p.D1538G|ANK1_ENST00000396942.1_Missense_Mutation_p.D1538G|ANK1_ENST00000265709.8_Missense_Mutation_p.D1579G	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1538	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D1538G(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGTACTGGTCTGCACGTAG	0.612																																					p.D1538G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4613G	8						.						38.0	38.0	38.0					8																	41530355		2203	4300	6503	41649512	SO:0001583	missense	286	exon38			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4613A>G	8.37:g.41530355T>C	ENSP00000339620:p.Asp1538Gly	Somatic		Capture	Illumina HiSeq	Phase_I	41649512	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345500	0.61073	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.70282	-0.47;-0.46;-0.44;-0.46;-0.45;-0.4;-0.46	5.24	5.24	0.73138	.	0.058896	0.64402	D	0.000003	T	0.70202	0.3197	L	0.50333	1.59	0.51482	D	0.999929	B;B;B;B	0.33044	0.231;0.151;0.395;0.231	B;B;B;B	0.40825	0.108;0.066;0.341;0.108	T	0.72666	-0.4224	10	0.62326	D	0.03	.	13.2508	0.60050	0.0:0.0:0.0:1.0	.	1579;1538;1538;1538	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	G	1538;1538;1538;1538;1538;1538;1579	ENSP00000339620:D1538G;ENSP00000289734:D1538G;ENSP00000369082:D1538G;ENSP00000380149:D1538G;ENSP00000380147:D1538G;ENSP00000309131:D1538G;ENSP00000265709:D1579G	ENSP00000265709:D1579G	D	-	2	0	ANK1	41649512	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.637000	0.83313	2.129000	0.65627	0.451000	0.29950	GAC		0.612	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
KAT6A	7994	broad.mit.edu	37	8	41789773	41789773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:41789773C>T	ENST00000396930.3	-	18	6508	c.5965G>A	c.(5965-5967)Gct>Act	p.A1989T	KAT6A_ENST00000406337.1_Missense_Mutation_p.A1989T|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1989T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1989					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1989T(1)									ACGCCAGCAGCGTTCATGTAG	0.483																																					p.A1989T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5965A	8						.						135.0	117.0	123.0					8																	41789773		2203	4300	6503	41908930	SO:0001583	missense	7994	exon18			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5965G>A	8.37:g.41789773C>T	ENSP00000380136:p.Ala1989Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41908930	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.691	1.151819	0.21371	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.56103	0.48;0.48;0.48	5.93	4.88	0.63580	.	0.152547	0.45867	D	0.000330	T	0.23451	0.0567	N	0.01352	-0.895	0.32023	N	0.600541	B	0.19445	0.036	B	0.08055	0.003	T	0.16660	-1.0395	10	0.44086	T	0.13	-16.2043	10.7749	0.46343	0.1332:0.7913:0.0:0.0755	.	1989	Q92794	KAT6A_HUMAN	T	1989	ENSP00000265713:A1989T;ENSP00000385888:A1989T;ENSP00000380136:A1989T	ENSP00000265713:A1989T	A	-	1	0	KAT6A	41908930	1.000000	0.71417	0.999000	0.59377	0.605000	0.37080	2.489000	0.45285	2.808000	0.96608	0.655000	0.94253	GCT		0.483	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PLAT	5327	broad.mit.edu	37	8	42045470	42045470	+	Silent	SNP	G	G	A	rs138954051		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:42045470G>A	ENST00000220809.4	-	5	574	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Silent_p.F106F|PLAT_ENST00000352041.3_Silent_p.F60F|PLAT_ENST00000270189.6_Silent_p.F106F|PLAT_ENST00000429089.2_Silent_p.F106F|PLAT_ENST00000519510.1_Silent_p.F106F	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	106	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.F106F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ACTGGCACACGAAATCTGAGA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20209	0.0		0.0	False		,,,				2504	0.0				p.F60F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	8						.	G	,	0,4406		0,0,2203	107.0	98.0	101.0		318,180	-4.9	0.1	8	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PLAT	NM_000930.3,NM_033011.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	106/563,60/517	42045470	1,13005	2203	4300	6503	42164627	SO:0001819	synonymous_variant	5327	exon4				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.318C>T	8.37:g.42045470G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42164627	NM_033011	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	CCDS6126.1																																																																																				0.537	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
IKBKB	3551	broad.mit.edu	37	8	42176791	42176791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:42176791G>T	ENST00000520810.1	+	14	1554	c.1368G>T	c.(1366-1368)atG>atT	p.M456I	IKBKB_ENST00000520835.1_Missense_Mutation_p.M454I|IKBKB_ENST00000416505.2_Missense_Mutation_p.M397I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000379708.3_Missense_Mutation_p.M233I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	456					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.M456I(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCTGCAGGATGAATCTCCTCC	0.473											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M454I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1362T	8						.						74.0	73.0	73.0					8																	42176791		2203	4300	6503	42295948	SO:0001583	missense	3551	exon13			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1368G>T	8.37:g.42176791G>T	ENSP00000430684:p.Met456Ile	Somatic	906	Capture	Illumina HiSeq	Phase_I	42295948	NM_001190720	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974423	0.53720	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.74315	-0.75;-0.83;-0.65;2.98	5.79	5.79	0.91817	.	0.040310	0.85682	D	0.000000	T	0.70150	0.3191	M	0.64997	1.995	0.51233	D	0.999919	B;B;B;B;B	0.30406	0.278;0.108;0.146;0.066;0.066	B;B;B;B;B	0.24701	0.034;0.055;0.023;0.025;0.025	T	0.69289	-0.5184	10	0.48119	T	0.1	.	12.9273	0.58266	0.0747:0.0:0.9253:0.0	.	397;454;233;407;456	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	I	456;397;454;233	ENSP00000430684:M456I;ENSP00000404920:M397I;ENSP00000430868:M454I;ENSP00000369030:M233I	ENSP00000369030:M233I	M	+	3	0	IKBKB	42295948	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.707000	0.68370	2.740000	0.93945	0.563000	0.77884	ATG		0.473	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		
POLB	5423	broad.mit.edu	37	8	42227360	42227360	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:42227360T>G	ENST00000265421.4	+	13	943				POLB_ENST00000521492.1_Intron|POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CTGTCCATTTTTTTTAGGTTG	0.333								DNA polymerases (catalytic subunits)																													.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						101.0	100.0	101.0					8																	42227360		2203	4300	6503	42346517	SO:0001627	intron_variant	5423	.				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.774-7T>G	8.37:g.42227360T>G		Somatic		Capture	Illumina HiSeq	Phase_I	42346517	.	B2RC78|Q3KP48|Q6FI34	Intron	SNP	ENST00000265421.4	37	CCDS6129.1																																																																																				0.333	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	
SMIM19	114926	broad.mit.edu	37	8	42401726	42401726	+	Silent	SNP	C	C	T	rs369347069		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:42401726C>T	ENST00000438528.3	+	2	160	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SMIM19_ENST00000414154.2_Silent_p.F37F|SMIM19_ENST00000417410.2_Silent_p.F37F|SMIM19_ENST00000416469.2_Silent_p.F37F|SMIM19_ENST00000490331.2_Silent_p.F37F|SMIM19_ENST00000529505.1_3'UTR	NM_001135676.1	NP_001129148.1	Q96E16	SMI19_HUMAN	small integral membrane protein 19	37						integral component of membrane (GO:0016021)		p.F30F(1)									TTGTTAGCTTCGGTCTCTTCA	0.358																																					p.F37F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	8						.	C	,,,	0,4406		0,0,2203	204.0	177.0	186.0		111,111,111,111	-1.6	0.7	8		186	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C8orf40	NM_001135674.1,NM_001135675.1,NM_001135676.1,NM_138436.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	37/108,37/108,37/108,37/108	42401726	1,13005	2203	4300	6503	42520883	SO:0001819	synonymous_variant	114926	exon2			BC013035	CCDS6133.2	8p11.21	2013-03-08	2013-03-08	2013-03-08	ENSG00000176209	ENSG00000176209			25166	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 40"""	C8orf40		12477932	Standard	NM_001135674		Approved		uc011lcv.2	Q96E16	OTTHUMG00000157060	ENST00000438528.3:c.111C>T	8.37:g.42401726C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42520883	NM_001135675	B2R4S6|D3DSY4	Silent	SNP	ENST00000438528.3	37	CCDS6133.2																																																																																				0.358	SMIM19-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347309.2	NM_138436	
HOOK3	84376	broad.mit.edu	37	8	42829345	42829345	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:42829345C>T	ENST00000307602.4	+	13	1521					NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3						cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.?(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGGTAAAAACGTTTTGCGAG	0.453			T	RET	papillary thyroid																																.			Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.	1	Unknown(1)	large_intestine(1)	.	8						.						93.0	91.0	92.0					8																	42829345		2203	4300	6503	42948502	SO:0001627	intron_variant	84376	.			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1321+8C>T	8.37:g.42829345C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42948502	.	D3DSY8|Q8NBH0|Q9BY13	Intron	SNP	ENST00000307602.4	37	CCDS6139.1																																																																																				0.453	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
HGSNAT	138050	broad.mit.edu	37	8	43046739	43046739	+	Splice_Site	SNP	G	G	A	rs398124544		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:43046739G>A	ENST00000458501.2	+	12	1334		c.e12+1		HGSNAT_ENST00000379644.4_Splice_Site|HGSNAT_ENST00000297798.7_Splice_Site|HGSNAT_ENST00000521576.1_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.?(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGTGCCCTACGTAAGCGAACC	0.597																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	8	GRCh37	CS065562	HGSNAT	S		.						73.0	76.0	75.0					8																	43046739		2012	4187	6199	43165896	SO:0001630	splice_region_variant	138050	.				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1334+1G>A	8.37:g.43046739G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43165896	.	B4E2V0	Splice_Site	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473329	0.63737	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000524016;ENST00000521576;ENST00000297798	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4097	0.83704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HGSNAT	43165896	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	8.456000	0.90359	2.462000	0.83206	0.650000	0.86243	.		0.597	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	Intron
POTEA	340441	broad.mit.edu	37	8	43155717	43155717	+	RNA	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:43155717A>C	ENST00000522175.2	+	0	647				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.K215N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAATGGTGAAATTTTTAATCA	0.318																																					p.K215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A645C	8						.						69.0	74.0	72.0					8																	43155717		2182	4295	6477	43274874			340441	exon4			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155717A>C		Somatic		Capture	Illumina HiSeq	Phase_I	43274874	NM_001005365	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.318	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920	
POTEA	340441	broad.mit.edu	37	8	43197031	43197031	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:43197031G>T	ENST00000522175.2	+	0	1061							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.K399N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCTGAAAAGAAATCTAATG	0.229																																					p.K399N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1197T	8						.						17.0	16.0	16.0					8																	43197031		1738	3954	5692	43316188			340441	exon10			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197031G>T		Somatic		Capture	Illumina HiSeq	Phase_I	43316188	NM_001005365	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.229	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920	
PRKDC	5591	broad.mit.edu	37	8	48772221	48772221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:48772221G>T	ENST00000314191.2	-	47	6211	c.6155C>A	c.(6154-6156)tCa>tAa	p.S2052*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S2052*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2053					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S2052*(1)|p.S2053*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAGCTGTATGAATAGCTCTG	0.438								Non-homologous end-joining																													p.H2053N	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C6157A	8						.						122.0	120.0	121.0					8																	48772221		1889	4125	6014	48934774	SO:0001587	stop_gained	5591	exon46				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6155C>A	8.37:g.48772221G>T	ENSP00000313420:p.Ser2052*	Somatic		Capture	Illumina HiSeq	Phase_I	48934774	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	48	14.056035	0.99777	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2052	.	ENSP00000313420:S2052X	S	-	2	0	PRKDC	48934774	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.459000	0.80802	2.786000	0.95864	0.561000	0.74099	TCA		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48801610	48801610	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:48801610T>C	ENST00000314191.2	-	34	4298	c.4242A>G	c.(4240-4242)ctA>ctG	p.L1414L	PRKDC_ENST00000338368.3_Silent_p.L1414L|PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1415					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.L1415L(1)|p.L1414L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGGGTCTCTAGGATATCTT	0.458								Non-homologous end-joining																													p.X1415W	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4244G	8						.						96.0	96.0	96.0					8																	48801610		1926	4139	6065	48964163	SO:0001819	synonymous_variant	5591	exon33				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4242A>G	8.37:g.48801610T>C		Somatic		Capture	Illumina HiSeq	Phase_I	48964163	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
MCM4	4173	broad.mit.edu	37	8	48882381	48882381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:48882381C>T	ENST00000262105.2	+	10	1407	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.R400*|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	400					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R400*(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTGCCTATTCGAGTCAATCC	0.478																																					p.R400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1198T	8						.						120.0	102.0	108.0					8																	48882381		2203	4300	6503	49044934	SO:0001587	stop_gained	4173	exon11				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1198C>T	8.37:g.48882381C>T	ENSP00000262105:p.Arg400*	Somatic		Capture	Illumina HiSeq	Phase_I	49044934	NM_182746	Q8NEH1|Q99658	Nonsense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944000	0.92593	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	.	.	.	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6145	16.8452	0.85978	0.1289:0.8711:0.0:0.0	.	.	.	.	X	400;400;387;360;118	.	ENSP00000262105:R400X	R	+	1	2	MCM4	49044934	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	4.565000	0.60836	2.884000	0.98904	0.655000	0.94253	CGA		0.478	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
SNTG1	54212	broad.mit.edu	37	8	51314842	51314842	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:51314842G>T	ENST00000522124.1	+	4	761	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	SNTG1_ENST00000276467.5_Missense_Mutation_p.D34Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.D34Y|SNTG1_ENST00000517473.1_Missense_Mutation_p.D34Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	34					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.D34Y(2)|p.D34N(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCTAGCCAAAGACATTTTGAT	0.388																																					p.D34Y												.	.	4	Substitution - Missense(4)	upper_aerodigestive_tract(2)|large_intestine(2)	c.G100T	8						.						209.0	205.0	206.0					8																	51314842		2203	4300	6503	51477395	SO:0001583	missense	54212	exon4			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.100G>T	8.37:g.51314842G>T	ENSP00000429842:p.Asp34Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51477395	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948075	0.73787	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T	0.34472	1.36;1.36;2.12;2.12	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	T	0.65323	-0.6196	10	0.87932	D	0	.	17.204	0.86913	0.0:0.0:1.0:0.0	.	34;34	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Y	34	ENSP00000429276:D34Y;ENSP00000429842:D34Y;ENSP00000431123:D34Y;ENSP00000276467:D34Y	ENSP00000276467:D34Y	D	+	1	0	SNTG1	51477395	1.000000	0.71417	0.331000	0.25455	0.935000	0.57460	8.701000	0.91331	2.314000	0.78098	0.655000	0.94253	GAC		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
ST18	9705	broad.mit.edu	37	8	53028987	53028987	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:53028987G>T	ENST00000276480.7	-	25	3543					NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATCTACAACAGAAATAACTTG	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						124.0	100.0	108.0					8																	53028987		2203	4300	6503	53191540	SO:0001627	intron_variant	9705	.			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2860-9C>A	8.37:g.53028987G>T		Somatic		Capture	Illumina HiSeq	Phase_I	53191540	.	Q17RY1	Intron	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																				0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST18	9705	broad.mit.edu	37	8	53062474	53062474	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:53062474G>T	ENST00000276480.7	-	16	2553	c.1870C>A	c.(1870-1872)Ctg>Atg	p.L624M	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	624					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L624M(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GACTTGTCCAGGATTCGATTT	0.408																																					p.L624M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1870A	8						.						224.0	209.0	214.0					8																	53062474		2203	4300	6503	53225027	SO:0001583	missense	9705	exon16			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1870C>A	8.37:g.53062474G>T	ENSP00000276480:p.Leu624Met	Somatic		Capture	Illumina HiSeq	Phase_I	53225027	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943295	0.73672	.	.	ENSG00000147488	ENST00000276480	T	0.47869	0.83	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.520588	0.20912	N	0.083458	T	0.53498	0.1800	L	0.44542	1.39	0.24979	N	0.991615	P	0.44281	0.831	P	0.48571	0.582	T	0.51092	-0.8749	10	0.54805	T	0.06	-0.0529	19.4629	0.94924	0.0:0.0:1.0:0.0	.	624	O60284	ST18_HUMAN	M	624	ENSP00000276480:L624M	ENSP00000276480:L624M	L	-	1	2	ST18	53225027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.670000	0.54569	2.612000	0.88384	0.460000	0.39030	CTG		0.408	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
OPRK1	4986	broad.mit.edu	37	8	54142295	54142295	+	Silent	SNP	G	G	A	rs112014812	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:54142295G>A	ENST00000265572.3	-	4	1002	c.705C>T	c.(703-705)ttC>ttT	p.F235F	OPRK1_ENST00000520287.1_Silent_p.F235F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.F146F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	235					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.F235F(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAGGGATCACGAAGGCAAAGA	0.532																																					p.F235F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	8						.	G		1,4405	2.1+/-5.4	0,1,2202	84.0	89.0	87.0		705	-10.8	0.4	8	dbSNP_132	87	0,8600		0,0,4300	no	coding-synonymous	OPRK1	NM_000912.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		235/381	54142295	1,13005	2203	4300	6503	54304848	SO:0001819	synonymous_variant	4986	exon4				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.705C>T	8.37:g.54142295G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54304848	NM_000912	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																				0.532	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
SOX17	64321	broad.mit.edu	37	8	55370987	55370987	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:55370987G>A	ENST00000297316.4	+	1	493	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	97					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E97K(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCACAACGCCGAGTTGAGCAA	0.627																																					p.E97K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289A	8						.						21.0	25.0	24.0					8																	55370987		2202	4298	6500	55533540	SO:0001583	missense	64321	exon1			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.289G>A	8.37:g.55370987G>A	ENSP00000297316:p.Glu97Lys	Somatic		Capture	Illumina HiSeq	Phase_I	55533540	NM_022454		Missense_Mutation	SNP	ENST00000297316.4	37	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109863	0.94292	.	.	ENSG00000164736	ENST00000297316	D	0.95554	-3.74	4.45	4.45	0.53987	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99457	1.0942	10	0.87932	D	0	.	17.2655	0.87085	0.0:0.0:1.0:0.0	.	97	Q9H6I2	SOX17_HUMAN	K	97	ENSP00000297316:E97K	ENSP00000297316:E97K	E	+	1	0	SOX17	55533540	1.000000	0.71417	0.312000	0.25196	0.599000	0.36880	7.488000	0.81441	2.464000	0.83262	0.561000	0.74099	GAG		0.627	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2		
RP1	6101	broad.mit.edu	37	8	55538664	55538664	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:55538664A>C	ENST00000220676.1	+	4	2370	c.2222A>C	c.(2221-2223)aAt>aCt	p.N741T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	741					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.N741T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGAATCAAATACTTTTTGT	0.323																																					p.N741T	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2222C	8						.						31.0	31.0	31.0					8																	55538664		2203	4297	6500	55701217	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2222A>C	8.37:g.55538664A>C	ENSP00000220676:p.Asn741Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55701217	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	4.545	0.101213	0.08731	.	.	ENSG00000104237	ENST00000220676	T	0.22539	1.95	5.93	-2.02	0.07388	.	0.710457	0.13032	N	0.419234	T	0.13841	0.0335	L	0.29908	0.895	0.09310	N	1	B	0.21381	0.055	B	0.20955	0.032	T	0.24693	-1.0153	10	0.87932	D	0	.	8.8055	0.34934	0.4519:0.1134:0.4347:0.0	.	741	P56715	RP1_HUMAN	T	741	ENSP00000220676:N741T	ENSP00000220676:N741T	N	+	2	0	RP1	55701217	0.768000	0.28519	0.105000	0.21289	0.002000	0.02628	0.787000	0.26858	-0.320000	0.08640	-0.353000	0.07706	AAT		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55542174	55542174	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:55542174A>G	ENST00000220676.1	+	4	5880	c.5732A>G	c.(5731-5733)tAt>tGt	p.Y1911C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1911					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.Y1911C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATAAACTGTATGCTCTTTGT	0.398																																					p.Y1911C	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5732G	8						.						95.0	94.0	94.0					8																	55542174		2203	4300	6503	55704727	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5732A>G	8.37:g.55542174A>G	ENSP00000220676:p.Tyr1911Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55704727	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631842	0.67015	.	.	ENSG00000104237	ENST00000220676	T	0.57752	0.38	5.91	5.91	0.95273	.	0.147241	0.31660	N	0.007267	T	0.71187	0.3310	M	0.65975	2.015	0.42739	D	0.993734	D	0.89917	1.0	D	0.73380	0.98	T	0.74624	-0.3603	10	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1911	P56715	RP1_HUMAN	C	1911	ENSP00000220676:Y1911C	ENSP00000220676:Y1911C	Y	+	2	0	RP1	55704727	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	8.741000	0.91583	2.261000	0.74972	0.533000	0.62120	TAT		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
TGS1	96764	broad.mit.edu	37	8	56725608	56725608	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:56725608T>G	ENST00000260129.5	+	12	2847	c.2370T>G	c.(2368-2370)atT>atG	p.I790M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	790	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.I790M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CCTTTGAAATTTTCAGACTTT	0.303																																					p.I790M	Esophageal Squamous(34;275 823 4842 34837 48447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2370G	8						.						46.0	46.0	46.0					8																	56725608		2201	4296	6497	56888162	SO:0001583	missense	96764	exon12			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2370T>G	8.37:g.56725608T>G	ENSP00000260129:p.Ile790Met	Somatic		Capture	Illumina HiSeq	Phase_I	56888162	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679598	0.47886	.	.	ENSG00000137574	ENST00000260129	T	0.46451	0.87	5.6	3.25	0.37280	.	1.679830	0.03172	N	0.170841	T	0.47581	0.1453	M	0.62723	1.935	0.80722	D	1	B	0.16603	0.018	B	0.26202	0.067	T	0.29397	-1.0013	10	0.54805	T	0.06	0.8024	9.5522	0.39317	0.0:0.1421:0.0:0.8579	.	790	Q96RS0	TGS1_HUMAN	M	790	ENSP00000260129:I790M	ENSP00000260129:I790M	I	+	3	3	TGS1	56888162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	0.949000	0.37715	0.528000	0.53228	ATT		0.303	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
RPS20	6224	broad.mit.edu	37	8	56986400	56986400	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:56986400C>T	ENST00000521262.1	-	3	357				RPS20_ENST00000520490.1_Intron|RPS20_ENST00000518875.1_Intron|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000009589.3_Intron|RPS20_ENST00000519807.1_Intron|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000524349.1_Intron|RPS20_ENST00000519606.1_Intron|RPS20_ENST00000523936.1_Intron|CTA-397H3.3_ENST00000521403.1_RNA			P60866	RS20_HUMAN	ribosomal protein S20						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CTTCTGCTGGCTCAGAATAGC	0.403																																					.												.	.	0			.	8						.						270.0	270.0	270.0					8																	56986400		876	1991	2867	57148954	SO:0001627	intron_variant	6224	.			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.104-73G>A	8.37:g.56986400C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57148954	.	B2R4F4|B4DW28|P17075|Q5M8S9	RNA	SNP	ENST00000521262.1	37																																																																																					0.403	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023	
MOS	4342	broad.mit.edu	37	8	57025882	57025882	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:57025882G>A	ENST00000311923.1	-	1	659	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.F220F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGAGCAACCGAAGTCACTAA	0.542																																					p.F220F	Esophageal Squamous(124;373 2870 4778)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	8						.						68.0	71.0	70.0					8																	57025882		2203	4300	6503	57188436	SO:0001819	synonymous_variant	4342	exon1				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.660C>T	8.37:g.57025882G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57188436	NM_005372	Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	CCDS6164.1																																																																																				0.542	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	
PLAG1	5324	broad.mit.edu	37	8	57079148	57079148	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:57079148G>T	ENST00000316981.3	-	5	1636	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H	PLAG1_ENST00000423799.2_Missense_Mutation_p.P304H|PLAG1_ENST00000429357.2_Missense_Mutation_p.P386H	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	386	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P386H(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCCAATCTGAGGATCCAACCC	0.483			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																p.P304H			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C911A	8						.						113.0	111.0	112.0					8																	57079148		2203	4300	6503	57241702	SO:0001583	missense	5324	exon3			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1157C>A	8.37:g.57079148G>T	ENSP00000325546:p.Pro386His	Somatic		Capture	Illumina HiSeq	Phase_I	57241702	NM_001114635	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742845	0.49151	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.13901	2.55;3.25;2.55	5.68	4.8	0.61643	.	0.053336	0.85682	D	0.000000	T	0.28928	0.0718	L	0.48642	1.525	0.58432	D	0.999999	D	0.76494	0.999	P	0.62813	0.907	T	0.01484	-1.1343	10	0.52906	T	0.07	-18.7661	15.9632	0.79948	0.0:0.0:0.8639:0.1361	.	386	Q6DJT9	PLAG1_HUMAN	H	386;304;386	ENSP00000325546:P386H;ENSP00000404067:P304H;ENSP00000416537:P386H	ENSP00000325546:P386H	P	-	2	0	PLAG1	57241702	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.471000	0.97696	1.368000	0.46115	0.467000	0.42956	CCT		0.483	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
IMPAD1	54928	broad.mit.edu	37	8	57876515	57876515	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:57876515G>C	ENST00000262644.4	-	5	1175	c.917C>G	c.(916-918)gCc>gGc	p.A306G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	306					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)	p.A306G(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTTTAAGATGGCATTACCAGC	0.433																																					p.A306G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917G	8						.						68.0	63.0	65.0					8																	57876515		2203	4300	6503	58039069	SO:0001583	missense	54928	exon5				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.917C>G	8.37:g.57876515G>C	ENSP00000262644:p.Ala306Gly	Somatic		Capture	Illumina HiSeq	Phase_I	58039069	NM_017813	Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595039	0.86953	.	.	ENSG00000104331	ENST00000262644	T	0.57107	0.42	5.32	5.32	0.75619	Inositol monophosphatase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80238	-0.1465	10	0.54805	T	0.06	-27.5718	17.9675	0.89103	0.0:0.0:1.0:0.0	.	306	Q9NX62	IMPA3_HUMAN	G	306	ENSP00000262644:A306G	ENSP00000262644:A306G	A	-	2	0	IMPAD1	58039069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.336000	0.96533	2.480000	0.83734	0.585000	0.79938	GCC		0.433	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	
CYP7A1	1581	broad.mit.edu	37	8	59404982	59404982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:59404982C>T	ENST00000301645.3	-	5	1282	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	382					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R382Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTCATCTTTTCGGATGTTGTA	0.453									Neonatal Giant Cell Hepatitis																												p.R382Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	8						.						173.0	151.0	159.0					8																	59404982		2203	4300	6503	59567536	SO:0001583	missense	1581	exon5	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1145G>A	8.37:g.59404982C>T	ENSP00000301645:p.Arg382Gln	Somatic		Capture	Illumina HiSeq	Phase_I	59567536	NM_000780	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889888	0.97068	.	.	ENSG00000167910	ENST00000301645	T	0.12879	2.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42632	-0.9440	10	0.54805	T	0.06	-16.1881	20.6634	0.99662	0.0:1.0:0.0:0.0	.	382	P22680	CP7A1_HUMAN	Q	382	ENSP00000301645:R382Q	ENSP00000301645:R382Q	R	-	2	0	CYP7A1	59567536	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGA		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
SDCBP	6386	broad.mit.edu	37	8	59493166	59493166	+	Splice_Site	SNP	C	C	T	rs377175958		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:59493166C>T	ENST00000260130.4	+	8	991	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	SDCBP_ENST00000447267.2_Splice_Site_p.R227W|SDCBP_ENST00000422546.2_Splice_Site_p.R280W|SDCBP_ENST00000520168.1_Splice_Site_p.R222W|SDCBP_ENST00000447182.2_Splice_Site_p.R280W|SDCBP_ENST00000413219.2_Splice_Site_p.R281W|SDCBP_ENST00000523483.1_Splice_Site_p.R301W|SDCBP_ENST00000424270.2_Splice_Site_p.R275W	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	281					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.R281W(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TATTATTAAGCGGTAAGTAAA	0.338																																					p.R280W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C838T	8						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	71.0	73.0		841,823,838,838,841	3.4	1.0	8		73	0,8584		0,0,4292	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SDCBP	NM_001007067.1,NM_001007068.1,NM_001007069.1,NM_001007070.1,NM_005625.3	101,101,101,101,101	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	281/299,275/293,280/298,280/298,281/299	59493166	1,12989	2203	4292	6495	59655720	SO:0001630	splice_region_variant	6386	exon8			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.842+1C>T	8.37:g.59493166C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59655720	NM_001007070	B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158854	0.57368	2.27E-4	0.0	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.53	3.42	0.39159	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.76838	2.35	0.58432	D	0.999994	B;B;B;B	0.29531	0.231;0.247;0.176;0.11	B;B;B;B	0.30716	0.022;0.119;0.048;0.022	T	0.54098	-0.8344	9	.	.	.	-15.745	12.1044	0.53803	0.57:0.4299:0.0:0.0	.	222;301;275;281	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	W	281;280;280;281;275;301;222;227	ENSP00000260130:R281W;ENSP00000391687:R280W;ENSP00000409288:R280W;ENSP00000411771:R281W;ENSP00000395351:R275W;ENSP00000428184:R301W;ENSP00000430730:R222W;ENSP00000397820:R227W	.	R	+	1	2	SDCBP	59655720	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.634000	0.54302	1.437000	0.47472	0.655000	0.94253	CGG		0.338	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625	Missense_Mutation
TOX	9760	broad.mit.edu	37	8	59720328	59720328	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:59720328T>C	ENST00000361421.1	-	9	1779	c.1559A>G	c.(1558-1560)gAc>gGc	p.D520G		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	520						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D520G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CAGTGCTTTGTCCCTCTGCAT	0.448											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D520G	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1559G	8						.						131.0	120.0	123.0					8																	59720328		2203	4300	6503	59882882	SO:0001583	missense	9760	exon9				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1559A>G	8.37:g.59720328T>C	ENSP00000354842:p.Asp520Gly	Somatic	1040	Capture	Illumina HiSeq	Phase_I	59882882	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101001	0.56183	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.30448	1.53	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.49826	-0.8898	9	.	.	.	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	520	O94900	TOX_HUMAN	G	520;270	ENSP00000354842:D520G	.	D	-	2	0	TOX	59882882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.069000	0.71209	2.228000	0.72767	0.533000	0.62120	GAC		0.448	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
TOX	9760	broad.mit.edu	37	8	59728228	59728228	+	Missense_Mutation	SNP	G	G	A	rs200969018		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:59728228G>A	ENST00000361421.1	-	7	1281	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	354						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S354L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGACGGCTTCGAATTGATCAG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19025	0.0		0.0	False		,,,				2504	0.0				p.S354L	Pancreas(161;610 1969 17913 21374 22725)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1061T	8						.	G	LEU/SER	0,4406		0,0,2203	98.0	100.0	99.0		1061	6.1	0.4	8		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOX	NM_014729.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	354/527	59728228	1,13005	2203	4300	6503	59890782	SO:0001583	missense	9760	exon7				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1061C>T	8.37:g.59728228G>A	ENSP00000354842:p.Ser354Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59890782	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.50	3.636516	0.67130	0.0	1.16E-4	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12774	2.65	6.07	6.07	0.98685	.	0.513748	0.20650	N	0.088227	T	0.08714	0.0216	N	0.08118	0	0.58432	D	0.99999	B	0.27971	0.196	B	0.17098	0.017	T	0.40794	-0.9544	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	354	O94900	TOX_HUMAN	L	354;112	ENSP00000354842:S354L	.	S	-	2	0	TOX	59890782	1.000000	0.71417	0.439000	0.26833	0.692000	0.40212	8.822000	0.92013	2.884000	0.98904	0.655000	0.94253	TCG		0.522	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CA8	767	broad.mit.edu	37	8	61139502	61139502	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:61139502A>G	ENST00000317995.4	-	5	778				CA8_ENST00000528666.1_Intron	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII						one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TATCTGAAAAACATAAAGCAT	0.348																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						83.0	81.0	82.0					8																	61139502		2203	4300	6503	61302056	SO:0001627	intron_variant	767	.			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.514-8T>C	8.37:g.61139502A>G		Somatic		Capture	Illumina HiSeq	Phase_I	61302056	.	A8K0A5|B3KQZ7|Q32MY2	Intron	SNP	ENST00000317995.4	37	CCDS6174.1																																																																																				0.348	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		
RAB2A	5862	broad.mit.edu	37	8	61471370	61471370	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:61471370C>A	ENST00000262646.7	+	2	397				RAB2A_ENST00000531289.1_Intron|RAB2A_ENST00000529579.1_Intron	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ATCTTAATTTCTGTGAATTTT	0.358																																					.												.	.	0			.	8						.						33.0	36.0	35.0					8																	61471370		2203	4300	6503	61633924	SO:0001627	intron_variant	5862	.				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.47-41C>A	8.37:g.61471370C>A		Somatic		Capture	Illumina HiSeq	Phase_I	61633924	.	B2R5W8|B4DMQ5|P08886	Intron	SNP	ENST00000262646.7	37	CCDS6175.1																																																																																				0.358	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2		
CHD7	55636	broad.mit.edu	37	8	61748644	61748644	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:61748644A>C	ENST00000423902.2	+	16	4270	c.3791A>C	c.(3790-3792)aAa>aCa	p.K1264T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1264					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K1264T(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGAAGAGAAAATTTTGGAA	0.403																																					p.K1264T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3791C	8						.						25.0	25.0	25.0					8																	61748644		1853	4099	5952	61911198	SO:0001583	missense	55636	exon16			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3791A>C	8.37:g.61748644A>C	ENSP00000392028:p.Lys1264Thr	Somatic		Capture	Illumina HiSeq	Phase_I	61911198	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287310	0.80803	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74632	-0.86	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.66560	2.04	0.80722	D	1	B	0.32396	0.369	B	0.33690	0.168	T	0.76618	-0.2893	10	0.87932	D	0	-23.6674	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1264	Q9P2D1	CHD7_HUMAN	T	1264	ENSP00000392028:K1264T	ENSP00000307304:K1264T	K	+	2	0	CHD7	61911198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	AAA		0.403	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
CLVS1	157807	broad.mit.edu	37	8	62289350	62289350	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:62289350G>T	ENST00000519846.1	+	4	1102				CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TATGTTCAATGAATGCGCAAT	0.353																																					.												.	.	0			.	8						.						51.0	50.0	51.0					8																	62289350		2203	4300	6503	62451904	SO:0001627	intron_variant	157807	.			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.630+12G>T	8.37:g.62289350G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62451904	.	B2R7M5|C8UZT3|Q8NB32	Intron	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																				0.353	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	
ASPH	444	broad.mit.edu	37	8	62460750	62460750	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:62460750C>T	ENST00000379454.4	-	21	1831	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ASPH_ENST00000541428.1_Silent_p.E519E	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	548					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.E548E(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGTGCCCAAGCTCATACCACT	0.403																																					p.E519E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1557A	8						.						119.0	102.0	108.0					8																	62460750		2203	4300	6503	62623304	SO:0001819	synonymous_variant	444	exon21			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1644G>A	8.37:g.62460750C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62623304	NM_001164750	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	CCDS34898.1																																																																																				0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
NKAIN3	286183	broad.mit.edu	37	8	63492216	63492216	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:63492216G>A	ENST00000523211.1	+	2	305	c.173G>A	c.(172-174)aGa>aAa	p.R58K	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.R58K	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R58K(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATTCAGTACAGACCTCGATAC	0.318																																					p.R58K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173A	8						.						155.0	142.0	146.0					8																	63492216		1808	4080	5888	63654770	SO:0001583	missense	286183	exon2			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.173G>A	8.37:g.63492216G>A	ENSP00000429073:p.Arg58Lys	Somatic		Capture	Illumina HiSeq	Phase_I	63654770	NM_173688		Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097571	0.56075	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.27256	1.68;1.68;1.68	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.78637	2.42	0.46203	D	0.998921	D	0.71674	0.998	D	0.80764	0.994	T	0.55425	-0.8143	10	0.72032	D	0.01	1.2099	19.5093	0.95135	0.0:0.0:1.0:0.0	.	58	Q8N8D7	NKAI3_HUMAN	K	58	ENSP00000429073:R58K;ENSP00000429393:R58K;ENSP00000333627:R58K	ENSP00000333627:R58K	R	+	2	0	NKAIN3	63654770	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.984000	0.88150	2.861000	0.98227	0.650000	0.86243	AGA		0.318	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	
CYP7B1	9420	broad.mit.edu	37	8	65509187	65509187	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:65509187C>A	ENST00000310193.3	-	0	1706				CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTTTCTTTCCTTTTAGCTTC	0.303																																					.												.	.	0			.	8						.						27.0	28.0	28.0					8																	65509187		2192	4287	6479	65671741	SO:0001624	3_prime_UTR_variant	9420	.			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.*12G>T	8.37:g.65509187C>A		Somatic		Capture	Illumina HiSeq	Phase_I	65671741	.	B2RN07|Q9UNF5	3'UTR	SNP	ENST00000310193.3	37	CCDS6180.1																																																																																				0.303	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
CYP7B1	9420	broad.mit.edu	37	8	65527678	65527678	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:65527678T>C	ENST00000310193.3	-	4	1135	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.E321G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ACGGTCAATTTCGTCACGCAC	0.488																																					p.E321G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A962G	8						.						107.0	99.0	102.0					8																	65527678		2203	4300	6503	65690232	SO:0001583	missense	9420	exon4			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.962A>G	8.37:g.65527678T>C	ENSP00000310721:p.Glu321Gly	Somatic		Capture	Illumina HiSeq	Phase_I	65690232	NM_004820	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.931664	0.73442	.	.	ENSG00000172817	ENST00000310193	D	0.95377	-3.69	5.93	5.93	0.95920	.	0.043020	0.85682	D	0.000000	D	0.98235	0.9416	M	0.92219	3.285	0.52099	D	0.999948	D	0.89917	1.0	D	0.91635	0.999	D	0.98855	1.0760	10	0.52906	T	0.07	-31.7073	16.3943	0.83563	0.0:0.0:0.0:1.0	.	321	O75881	CP7B1_HUMAN	G	321	ENSP00000310721:E321G	ENSP00000310721:E321G	E	-	2	0	CYP7B1	65690232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.281000	0.76405	0.533000	0.62120	GAA		0.488	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
CYP7B1	9420	broad.mit.edu	37	8	65528271	65528271	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:65528271A>G	ENST00000310193.3	-	3	1000	c.827T>C	c.(826-828)gTg>gCg	p.V276A	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	276					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.V276A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCCTCGTGCACATAATATTT	0.358																																					p.V276A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T827C	8						.						178.0	176.0	177.0					8																	65528271		2203	4299	6502	65690825	SO:0001583	missense	9420	exon3			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.827T>C	8.37:g.65528271A>G	ENSP00000310721:p.Val276Ala	Somatic		Capture	Illumina HiSeq	Phase_I	65690825	NM_004820	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.184216	0.00305	.	.	ENSG00000172817	ENST00000310193	T	0.66815	-0.23	5.49	-11.0	0.00169	.	2.484010	0.01060	N	0.004633	T	0.43299	0.1241	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.30031	-0.9992	10	0.16896	T	0.51	-17.4834	1.0363	0.01549	0.4208:0.1543:0.2171:0.2078	.	276	O75881	CP7B1_HUMAN	A	276	ENSP00000310721:V276A	ENSP00000310721:V276A	V	-	2	0	CYP7B1	65690825	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-1.526000	0.02229	-1.879000	0.01126	-0.379000	0.06801	GTG		0.358	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
MTFR1	9650	broad.mit.edu	37	8	66620202	66620202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:66620202G>T	ENST00000262146.4	+	7	1015	c.889G>T	c.(889-891)Gga>Tga	p.G297*	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Nonsense_Mutation_p.G264*	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	297	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.G297*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGTTGAAAAAGGAATTCCAAA	0.443																																					p.G264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	8						.						131.0	133.0	133.0					8																	66620202		2203	4300	6503	66782756	SO:0001587	stop_gained	9650	exon5				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.889G>T	8.37:g.66620202G>T	ENSP00000262146:p.Gly297*	Somatic		Capture	Illumina HiSeq	Phase_I	66782756	NM_001145838	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Nonsense_Mutation	SNP	ENST00000262146.4	37	CCDS6182.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.25|17.25|17.25	3.341283|3.341283|3.341283	0.60963|0.60963|0.60963	.|.|.	.|.|.	ENSG00000066855|ENSG00000066855|ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247|ENST00000518800|ENST00000527155	.|.|.	.|.|.	.|.|.	5.62|5.62|5.62	2.65|2.65|2.65	0.31530|0.31530|0.31530	.|.|.	0.762806|.|.	0.12776|.|.	N|.|.	0.440095|.|.	.|T|T	.|0.46678|0.46678	.|0.1405|0.1405	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.38972|0.38972	.|-0.9636|-0.9636	.|5|4	0.13853|0.11794|.	T|T|.	0.58|0.64|.	-23.3649|-23.3649|-23.3649	3.7777|3.7777|3.7777	0.08667|0.08667|0.08667	0.1495:0.1937:0.5337:0.1231|0.1495:0.1937:0.5337:0.1231|0.1495:0.1937:0.5337:0.1231	.|.|.	.|.|.	.|.|.	.|.|.	X|N|M	281;297;264;113|254|110	.|.|.	ENSP00000262146:G297X|ENSP00000430621:K254N|.	G|K|R	+|+|+	1|3|2	0|2|0	MTFR1|MTFR1|MTFR1	66782756|66782756|66782756	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	1.211000|1.211000|1.211000	0.32382|0.32382|0.32382	1.372000|1.372000|1.372000	0.46190|0.46190|0.46190	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGA|AAG|AGG		0.443	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	
PDE7A	5150	broad.mit.edu	37	8	66631529	66631529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:66631529G>T	ENST00000401827.3	-	13	1888	c.1445C>A	c.(1444-1446)tCa>tAa	p.S482*	PDE7A_ENST00000379419.4_Nonsense_Mutation_p.S456*	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	482					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.S482*(1)|p.S456*(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGGGGTTATGATAACCGATT	0.478																																					p.S456X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1367A	8						.						93.0	91.0	92.0					8																	66631529		2203	4300	6503	66794083	SO:0001587	stop_gained	5150	exon13			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1445C>A	8.37:g.66631529G>T	ENSP00000385632:p.Ser482*	Somatic		Capture	Illumina HiSeq	Phase_I	66794083	NM_002603	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Nonsense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006328	0.93287	.	.	ENSG00000205268	ENST00000401827;ENST00000379419	.	.	.	6.06	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8935	0.58084	0.0709:0.119:0.8101:0.0	.	.	.	.	X	482;456	.	ENSP00000368730:S456X	S	-	2	0	PDE7A	66794083	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	3.620000	0.54203	1.526000	0.49068	0.650000	0.86243	TCA		0.478	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1		
DNAJC5B	85479	broad.mit.edu	37	8	66988974	66988974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:66988974G>A	ENST00000276570.5	+	4	486	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	67	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.A67T(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AATCAACAACGCCCACGCAAT	0.418																																					p.A67T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G199A	8						.						165.0	149.0	154.0					8																	66988974		2203	4300	6503	67151528	SO:0001583	missense	85479	exon4			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.199G>A	8.37:g.66988974G>A	ENSP00000276570:p.Ala67Thr	Somatic		Capture	Illumina HiSeq	Phase_I	67151528	NM_033105	Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479776	0.96307	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.64438	-0.1;-0.1	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.93505	0.6848	10	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	67	Q9UF47	DNJ5B_HUMAN	T	67	ENSP00000276570:A67T;ENSP00000430196:A67T	ENSP00000276570:A67T	A	+	1	0	DNAJC5B	67151528	1.000000	0.71417	0.994000	0.49952	0.890000	0.51754	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	GCC		0.418	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
C8orf46	254778	broad.mit.edu	37	8	67422372	67422372	+	Nonsense_Mutation	SNP	C	C	T	rs546773714		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67422372C>T	ENST00000305454.3	+	4	763	c.322C>T	c.(322-324)Cga>Tga	p.R108*	C8orf46_ENST00000480005.1_Nonsense_Mutation_p.R108*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Nonsense_Mutation_p.R108*|C8orf46_ENST00000522977.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	108								p.R107*(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGTGGGAATCGAGCATATGG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20974	0.0		0.0	False		,,,				2504	0.0				p.R108X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C322T	8						.						149.0	136.0	140.0					8																	67422372		2203	4300	6503	67584926	SO:0001587	stop_gained	254778	exon4			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.322C>T	8.37:g.67422372C>T	ENSP00000302260:p.Arg108*	Somatic		Capture	Illumina HiSeq	Phase_I	67584926	NM_152765	B2RDC3|B4DFU4|C9J814|C9JCS3	Nonsense_Mutation	SNP	ENST00000305454.3	37	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	C	37	6.581506	0.97680	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000480005	.	.	.	5.87	4.03	0.46877	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9883	13.4198	0.60989	0.2861:0.7139:0.0:0.0	.	.	.	.	X	108	.	ENSP00000302260:R108X	R	+	1	2	C8orf46	67584926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.671000	0.25172	0.779000	0.33543	0.655000	0.94253	CGA		0.423	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765	
MYBL1	4603	broad.mit.edu	37	8	67504726	67504726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67504726C>A	ENST00000522677.3	-	8	1226	c.816G>T	c.(814-816)gaG>gaT	p.E272D	MYBL1_ENST00000524176.2_Missense_Mutation_p.E272D|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	272	Transcriptional activation domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E272D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAAGAAGCATCTCAAGTTCCT	0.303																																					p.E272D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G816T	8						.						91.0	86.0	88.0					8																	67504726		1809	4067	5876	67667280	SO:0001583	missense	4603	exon8			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.816G>T	8.37:g.67504726C>A	ENSP00000429633:p.Glu272Asp	Somatic		Capture	Illumina HiSeq	Phase_I	67667280	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038638	0.75617	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.22945	2.4;1.93	5.85	3.8	0.43715	Transcription regulator Wos2-domain (1);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.75264	2.295	0.51012	D	0.999907	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.79108	0.99;0.992;0.976	T	0.42982	-0.9419	10	0.46703	T	0.11	-15.6516	10.1849	0.42991	0.0:0.7406:0.0:0.2594	.	272;272;272	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	D	272	ENSP00000429633:E272D;ENSP00000428011:E272D	ENSP00000429633:E272D	E	-	3	2	MYBL1	67667280	0.893000	0.30496	1.000000	0.80357	0.957000	0.61999	0.058000	0.14301	1.223000	0.43536	0.563000	0.77884	GAG		0.303	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
MYBL1	4603	broad.mit.edu	37	8	67509631	67509631	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67509631A>G	ENST00000522677.3	-	5	856	c.446T>C	c.(445-447)aTc>aCc	p.I149T	MYBL1_ENST00000524176.2_Missense_Mutation_p.I149T|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	149	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I149T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTCATAGATGATCCTGTCCTC	0.388																																					p.I149T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T446C	8						.						103.0	93.0	96.0					8																	67509631		1857	4102	5959	67672185	SO:0001583	missense	4603	exon5			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.446T>C	8.37:g.67509631A>G	ENSP00000429633:p.Ile149Thr	Somatic		Capture	Illumina HiSeq	Phase_I	67672185	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474648	0.63737	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.44482	0.92;0.92	5.11	5.11	0.69529	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.048496	0.85682	D	0.000000	T	0.48295	0.1492	L	0.50919	1.6	0.80722	D	1	B;B;B	0.25743	0.064;0.005;0.133	B;B;B	0.40565	0.149;0.024;0.333	T	0.49370	-0.8947	10	0.48119	T	0.1	-7.5656	14.9066	0.70724	1.0:0.0:0.0:0.0	.	149;149;149	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	T	149	ENSP00000429633:I149T;ENSP00000428011:I149T	ENSP00000429633:I149T	I	-	2	0	MYBL1	67672185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.281000	0.95811	1.915000	0.55452	0.379000	0.24179	ATC		0.388	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
MCMDC2	157777	broad.mit.edu	37	8	67790882	67790882	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67790882T>G	ENST00000422365.2	+	6	726	c.555T>G	c.(553-555)aaT>aaG	p.N185K	MCMDC2_ENST00000541540.1_Missense_Mutation_p.N122K|MCMDC2_ENST00000396592.3_Missense_Mutation_p.N185K|MCMDC2_ENST00000492775.1_Missense_Mutation_p.N185K|MCMDC2_ENST00000313616.5_Missense_Mutation_p.N185K|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	185					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N180K(1)		endometrium(2)|kidney(2)|lung(5)	9						TTTTGTGTAATCTATGTGCAT	0.308																																					p.N185K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T555G	8						.						139.0	144.0	142.0					8																	67790882		2203	4300	6503	67953436	SO:0001583	missense	157777	exon6			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.555T>G	8.37:g.67790882T>G	ENSP00000413632:p.Asn185Lys	Somatic		Capture	Illumina HiSeq	Phase_I	67953436	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	8.826	0.938688	0.18206	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.21191	3.64;3.64;3.64;3.64;2.02	5.84	3.27	0.37495	.	0.831564	0.11712	N	0.536826	T	0.05960	0.0155	N	0.02011	-0.69	0.23238	N	0.998064	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.40327	-0.9569	10	0.05351	T	0.99	-1.006	4.5654	0.12184	0.1208:0.0672:0.1259:0.686	.	122;185;185;185	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	K	57;185;185;185;185;122	ENSP00000379837:N185K;ENSP00000413632:N185K;ENSP00000428037:N185K;ENSP00000317234:N185K;ENSP00000445629:N122K	ENSP00000317234:N185K	N	+	3	2	C8orf45	67953436	0.720000	0.27996	0.994000	0.49952	0.953000	0.61014	0.524000	0.22940	0.993000	0.38866	0.482000	0.46254	AAT		0.308	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518	
MCMDC2	157777	broad.mit.edu	37	8	67796185	67796185	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67796185C>T	ENST00000422365.2	+	9	1200	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	MCMDC2_ENST00000541540.1_Silent_p.C280C|MCMDC2_ENST00000396592.3_Silent_p.C343C|MCMDC2_ENST00000492775.1_Silent_p.C343C|MCMDC2_ENST00000313616.5_Silent_p.C343C	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	343					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.C338C(1)		endometrium(2)|kidney(2)|lung(5)	9						TGGAAGATTGCCTGGATATTT	0.353																																					p.C343C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029T	8						.						60.0	59.0	60.0					8																	67796185		2203	4300	6503	67958739	SO:0001819	synonymous_variant	157777	exon9			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1029C>T	8.37:g.67796185C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67958739	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	ENST00000422365.2	37	CCDS6197.2																																																																																				0.353	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518	
MCMDC2	157777	broad.mit.edu	37	8	67813526	67813526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67813526G>A	ENST00000422365.2	+	13	1883	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	MCMDC2_ENST00000541540.1_Missense_Mutation_p.R508K|MCMDC2_ENST00000396592.3_Missense_Mutation_p.R571K|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R571K	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	571	MCM.				DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R566K(1)		endometrium(2)|kidney(2)|lung(5)	9						GCAAGTCGCAGAATCAGAACA	0.358																																					p.R571K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1712A	8						.						98.0	98.0	98.0					8																	67813526		2203	4300	6503	67976080	SO:0001583	missense	157777	exon13			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1712G>A	8.37:g.67813526G>A	ENSP00000413632:p.Arg571Lys	Somatic		Capture	Illumina HiSeq	Phase_I	67976080	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788831	0.90367	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.44482	0.92;3.49;3.49;3.49	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.75777	2.31	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.99;0.994;0.994	T	0.57843	-0.7741	10	0.05525	T	0.97	-16.8968	19.7024	0.96060	0.0:0.0:1.0:0.0	.	508;571;571	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	K	571;571;571;508	ENSP00000379837:R571K;ENSP00000413632:R571K;ENSP00000317234:R571K;ENSP00000445629:R508K	ENSP00000317234:R571K	R	+	2	0	C8orf45	67976080	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.397000	0.73239	2.724000	0.93272	0.655000	0.94253	AGA		0.358	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518	
PPP1R42	286187	broad.mit.edu	37	8	67929882	67929882	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67929882T>A	ENST00000324682.5	-	2	245	c.101A>T	c.(100-102)aAt>aTt	p.N34I	PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000522909.1_Missense_Mutation_p.N34I	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	34					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)	p.N34I(1)									GTCTGAAAAATTTATATGAGT	0.299																																					p.N34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101T	8						.						47.0	45.0	46.0					8																	67929882		2199	4295	6494	68092436	SO:0001583	missense	286187	exon2			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.101A>T	8.37:g.67929882T>A	ENSP00000315035:p.Asn34Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68092436	NM_001013626		Missense_Mutation	SNP	ENST00000324682.5	37	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356651	0.61293	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.42131	2.15;0.98	5.05	5.05	0.67936	.	0.044796	0.85682	D	0.000000	T	0.38161	0.1030	L	0.40543	1.245	0.54753	D	0.999981	B	0.29988	0.264	B	0.35114	0.196	T	0.16129	-1.0413	10	0.25106	T	0.35	-13.2102	14.8007	0.69913	0.0:0.0:0.0:1.0	.	34	Q7Z4L9-2	.	I	34	ENSP00000429721:N34I;ENSP00000315035:N34I	ENSP00000315035:N34I	N	-	2	0	LRRC67	68092436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.807000	0.75201	1.883000	0.54544	0.533000	0.62120	AAT		0.299	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626	
CSPP1	79848	broad.mit.edu	37	8	67986477	67986477	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:67986477G>T	ENST00000262210.5	+	2	129		c.e2-1		COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTTTTTAAAGAATCTGCAAA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						67.0	71.0	70.0					8																	67986477		1805	4060	5865	68149031	SO:0001630	splice_region_variant	79848	.			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.99-1G>T	8.37:g.67986477G>T		Somatic		Capture	Illumina HiSeq	Phase_I	68149031	.	A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614846	0.46631	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7844	0.78291	0.0:0.1365:0.8635:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68149031	0.993000	0.37304	0.060000	0.19600	0.716000	0.41182	2.277000	0.43417	2.690000	0.91761	0.563000	0.77884	.		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	Intron
CSPP1	79848	broad.mit.edu	37	8	68070776	68070776	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:68070776G>T	ENST00000262210.5	+	18	2352	c.2321G>T	c.(2320-2322)cGa>cTa	p.R774L	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R429L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	809					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R774L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGAGGGCACGAATTCagcag	0.408																																					p.R774L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2321T	8						.																																			68233330	SO:0001583	missense	79848	exon18			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2321G>T	8.37:g.68070776G>T	ENSP00000262210:p.Arg774Leu	Somatic		Capture	Illumina HiSeq	Phase_I	68233330	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035413	0.75617	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.43294	0.99;0.95;0.95	5.17	5.17	0.71159	.	0.317819	0.28273	N	0.015947	T	0.30947	0.0781	L	0.29908	0.895	0.37934	D	0.932099	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	B;B;B;B	0.39562	0.303;0.303;0.303;0.303	T	0.28170	-1.0052	10	0.46703	T	0.11	-1.2163	13.5799	0.61896	0.0:0.0:0.8443:0.1557	.	429;774;809;809	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	L	774;809;429;429	ENSP00000262210:R774L;ENSP00000415782:R429L;ENSP00000430092:R429L	ENSP00000262210:R774L	R	+	2	0	CSPP1	68233330	0.975000	0.34042	0.966000	0.40874	0.595000	0.36748	4.495000	0.60353	2.553000	0.86117	0.563000	0.77884	CGA		0.408	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
ARFGEF1	10565	broad.mit.edu	37	8	68116980	68116980	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:68116980C>T	ENST00000262215.3	-	35	5283	c.4894G>A	c.(4894-4896)Gac>Aac	p.D1632N	ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D1086N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.D470N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1632					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1632N(2)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAATGTTGTCGATAGTCTGG	0.443																																					p.D1632N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4894A	8						.						151.0	129.0	136.0					8																	68116980		2203	4300	6503	68279534	SO:0001583	missense	10565	exon35			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4894G>A	8.37:g.68116980C>T	ENSP00000262215:p.Asp1632Asn	Somatic		Capture	Illumina HiSeq	Phase_I	68279534	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778546	0.70107	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.59502	0.26;0.26;0.26	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.38692	1.165	0.80722	D	1	D;B;D	0.89917	1.0;0.058;0.986	D;B;P	0.97110	1.0;0.012;0.548	T	0.60672	-0.7217	10	0.23891	T	0.37	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	1632;456;1086	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	N	1086;1632;470	ENSP00000428429:D1086N;ENSP00000262215:D1632N;ENSP00000430891:D470N	ENSP00000262215:D1632N	D	-	1	0	ARFGEF1	68279534	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAC		0.443	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68179665	68179665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:68179665C>A	ENST00000262215.3	-	11	1974	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	ARFGEF1_ENST00000520381.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	529					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E529*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGAAAATTTCTTTAAAGAAC	0.318																																					p.E529X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1585T	8						.						40.0	45.0	43.0					8																	68179665		2193	4291	6484	68342219	SO:0001587	stop_gained	10565	exon11			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1585G>T	8.37:g.68179665C>A	ENSP00000262215:p.Glu529*	Somatic		Capture	Illumina HiSeq	Phase_I	68342219	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	42	9.544910	0.99201	.	.	ENSG00000066777	ENST00000262215	.	.	.	5.64	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9102	0.79467	0.1365:0.8635:0.0:0.0	.	.	.	.	X	529	.	ENSP00000262215:E529X	E	-	1	0	ARFGEF1	68342219	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	7.412000	0.80091	1.369000	0.46134	-0.188000	0.12872	GAA		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
PREX2	80243	broad.mit.edu	37	8	68950532	68950532	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:68950532G>T	ENST00000288368.4	+	7	1116				PREX2_ENST00000529398.1_Intron	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.?(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACACAGGTAAGATCCTAAGCA	0.403																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	8						.						66.0	63.0	64.0					8																	68950532		2203	4300	6503	69113086	SO:0001627	intron_variant	80243	.			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.839+5G>T	8.37:g.68950532G>T		Somatic		Capture	Illumina HiSeq	Phase_I	69113086	.	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Intron	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
PREX2	80243	broad.mit.edu	37	8	69002890	69002890	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:69002890G>A	ENST00000288368.4	+	20	2467	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	730	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.E730E(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAGCAAAGAGACACATGCCA	0.463																																					p.E730E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2190A	8						.						124.0	107.0	112.0					8																	69002890		2203	4300	6503	69165444	SO:0001819	synonymous_variant	80243	exon20			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2190G>A	8.37:g.69002890G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69165444	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
PREX2	80243	broad.mit.edu	37	8	69104698	69104698	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:69104698C>A	ENST00000288368.4	+	37	4819	c.4542C>A	c.(4540-4542)tcC>tcA	p.S1514S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1514					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S1514S(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTCAGTTTCCTCGGAGCTGT	0.557																																					p.S1514S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4542A	8						.						62.0	50.0	54.0					8																	69104698		2203	4300	6503	69267252	SO:0001819	synonymous_variant	80243	exon37			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4542C>A	8.37:g.69104698C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69267252	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.557	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
C8orf34	116328	broad.mit.edu	37	8	69351854	69351854	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:69351854G>A	ENST00000539993.1	+	2	739	c.190G>A	c.(190-192)Gct>Act	p.A64T	C8orf34_ENST00000337103.4_Missense_Mutation_p.A39T|C8orf34_ENST00000348340.2_Missense_Mutation_p.A64T|C8orf34_ENST00000523686.1_Missense_Mutation_p.A64T|C8orf34_ENST00000518698.1_Missense_Mutation_p.A150T|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	64								p.A64T(1)|p.A39T(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGATCTGCAGCTCTATGGGC	0.378																																					p.A150T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G448A	8						.						78.0	76.0	77.0					8																	69351854		2203	4300	6503	69514408	SO:0001583	missense	116328	exon2			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.190G>A	8.37:g.69351854G>A	ENSP00000438159:p.Ala64Thr	Somatic		Capture	Illumina HiSeq	Phase_I	69514408	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.53640	0.61;0.65;0.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.65975	2.015	0.54753	D	0.999986	D;P;D	0.89917	0.998;0.873;1.0	D;B;D	0.87578	0.995;0.273;0.998	T	0.65602	-0.6128	9	.	.	.	-15.7276	20.2189	0.98312	0.0:0.0:1.0:0.0	.	64;64;64	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	T	150;64;64;64;39	ENSP00000427820:A150T;ENSP00000438159:A64T;ENSP00000337174:A39T	.	A	+	1	0	C8orf34	69514408	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.402000	0.97298	2.779000	0.95612	0.650000	0.86243	GCT		0.378	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	C	T	rs201463505		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:69621313C>T	ENST00000539993.1	+	9	1617	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	C8orf34_ENST00000337103.4_Splice_Site_p.F331F|C8orf34_ENST00000325233.3_Splice_Site_p.F100F|C8orf34_ENST00000518698.1_Splice_Site_p.F442F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	356								p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343																																					p.F442F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1326T	8						.						66.0	63.0	64.0					8																	69621313		2203	4300	6503	69783867	SO:0001630	splice_region_variant	116328	exon9			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1069+1C>T	8.37:g.69621313C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69783867	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37																																																																																					0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Silent
C8orf34	116328	broad.mit.edu	37	8	69633610	69633610	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:69633610A>G	ENST00000539993.1	+	10	1633	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	C8orf34_ENST00000337103.4_Missense_Mutation_p.T337A|C8orf34_ENST00000325233.3_Missense_Mutation_p.T106A|C8orf34_ENST00000518698.1_Missense_Mutation_p.T448A			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	362								p.T362A(1)|p.T337A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTTGCCTGGGACTGAAGAAGC	0.294																																					p.T448A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1342G	8						.						93.0	97.0	96.0					8																	69633610		2203	4300	6503	69796164	SO:0001583	missense	116328	exon10			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1084A>G	8.37:g.69633610A>G	ENSP00000438159:p.Thr362Ala	Somatic		Capture	Illumina HiSeq	Phase_I	69796164	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	A	8.889	0.953501	0.18431	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.43294	0.96;0.99;0.99;0.95	5.55	3.06	0.35304	.	0.728283	0.12576	N	0.456841	T	0.25606	0.0623	N	0.14661	0.345	0.21499	N	0.999669	B	0.21905	0.062	B	0.23419	0.046	T	0.24404	-1.0161	9	.	.	.	-7.4924	9.9668	0.41730	0.6723:0.3277:0.0:0.0	.	362	Q49A92	CH034_HUMAN	A	448;362;337;106	ENSP00000427820:T448A;ENSP00000438159:T362A;ENSP00000337174:T337A;ENSP00000319532:T106A	.	T	+	1	0	C8orf34	69796164	1.000000	0.71417	0.873000	0.34254	0.935000	0.57460	2.475000	0.45162	0.442000	0.26555	0.477000	0.44152	ACT		0.294	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
SLCO5A1	81796	broad.mit.edu	37	8	70667685	70667685	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:70667685G>A	ENST00000260126.4	-	4	1938	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S411L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S411L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	411						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S411L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAATCCCATCGAAGAAACTTT	0.383																																					p.S411L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1232T	8						.						133.0	112.0	119.0					8																	70667685		2202	4299	6501	70830239	SO:0001583	missense	81796	exon3			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1232C>T	8.37:g.70667685G>A	ENSP00000260126:p.Ser411Leu	Somatic		Capture	Illumina HiSeq	Phase_I	70830239	NM_001146008	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538011	0.85917	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58652	1.07;1.43;0.32	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.116050	0.64402	D	0.000011	T	0.67571	0.2907	L	0.43923	1.385	0.45554	D	0.998501	D;P;B;B	0.67145	0.996;0.586;0.279;0.382	P;B;B;B	0.62885	0.908;0.094;0.129;0.079	T	0.60712	-0.7209	10	0.25751	T	0.34	.	19.3168	0.94218	0.0:0.0:1.0:0.0	.	411;411;411;411	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	411	ENSP00000260126:S411L;ENSP00000434422:S411L;ENSP00000431611:S411L	ENSP00000260126:S411L	S	-	2	0	SLCO5A1	70830239	1.000000	0.71417	0.954000	0.39281	0.963000	0.63663	9.359000	0.97115	2.786000	0.95864	0.563000	0.77884	TCG		0.383	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
SLCO5A1	81796	broad.mit.edu	37	8	70744357	70744357	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:70744357G>A	ENST00000260126.4	-	2	1258	c.552C>T	c.(550-552)ttC>ttT	p.F184F	RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F184F|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.F184F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F184F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAGCTGACGAACACCACCA	0.622																																					p.F184F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	8						.						38.0	43.0	41.0					8																	70744357		2203	4300	6503	70906911	SO:0001819	synonymous_variant	81796	exon1			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.552C>T	8.37:g.70744357G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70906911	NM_001146008	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	CCDS6205.1																																																																																				0.622	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
XKR9	389668	broad.mit.edu	37	8	71646380	71646380	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:71646380G>T	ENST00000408926.3	+	5	1377	c.843G>T	c.(841-843)caG>caT	p.Q281H	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.Q281H	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	281						integral component of membrane (GO:0016021)		p.Q281H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTAAGGGACAGAATACCAAGT	0.333																																					p.Q281H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G843T	8						.						83.0	81.0	82.0					8																	71646380		2203	4299	6502	71808934	SO:0001583	missense	389668	exon5			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.843G>T	8.37:g.71646380G>T	ENSP00000386141:p.Gln281His	Somatic		Capture	Illumina HiSeq	Phase_I	71808934	NM_001011720	B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103424	0.56291	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	0.864	0.19068	.	0.371714	0.29814	N	0.011132	T	0.68659	0.3025	M	0.66939	2.045	0.43462	D	0.995667	D	0.89917	1.0	D	0.70487	0.969	T	0.65421	-0.6172	10	0.59425	D	0.04	-0.3786	2.7872	0.05377	0.4612:0.0:0.3329:0.2058	.	281	Q5GH70	XKR9_HUMAN	H	281	ENSP00000386141:Q281H;ENSP00000431088:Q281H	ENSP00000386141:Q281H	Q	+	3	2	XKR9	71808934	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.078000	0.41567	0.288000	0.22398	0.563000	0.77884	CAG		0.333	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
EYA1	2138	broad.mit.edu	37	8	72156886	72156886	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72156886T>C	ENST00000340726.3	-	12	1731	c.1092A>G	c.(1090-1092)gaA>gaG	p.E364E	EYA1_ENST00000303824.7_Silent_p.E358E|EYA1_ENST00000388740.3_Silent_p.E331E|EYA1_ENST00000388742.4_Silent_p.E364E|EYA1_ENST00000388741.2_Silent_p.E330E|EYA1_ENST00000388743.2_Silent_p.E363E|EYA1_ENST00000419131.1_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	364					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.E364E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGAAAATCATTTCTTCCATTC	0.328																																					p.E331E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A993G	8						.						61.0	60.0	60.0					8																	72156886		2203	4300	6503	72319440	SO:0001819	synonymous_variant	2138	exon10			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1092A>G	8.37:g.72156886T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72319440	NM_172060	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																				0.328	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
TRPA1	8989	broad.mit.edu	37	8	72945941	72945941	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72945941G>T	ENST00000262209.4	-	23	3013	c.2806C>A	c.(2806-2808)Ctg>Atg	p.L936M	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'Flank|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	936					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.L936M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCAAAGGACAGAACTGGATGT	0.358																																					p.L936M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2806A	8						.						112.0	104.0	106.0					8																	72945941		2203	4300	6503	73108495	SO:0001583	missense	8989	exon23			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2806C>A	8.37:g.72945941G>T	ENSP00000262209:p.Leu936Met	Somatic		Capture	Illumina HiSeq	Phase_I	73108495	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055129	0.19907	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.43294	0.95;0.95	5.44	2.67	0.31697	Ion transport (1);	0.216636	0.40818	N	0.001017	T	0.61553	0.2356	M	0.85945	2.785	0.27680	N	0.946482	D	0.89917	1.0	D	0.85130	0.997	T	0.54105	-0.8343	10	0.45353	T	0.12	-5.9244	6.1376	0.20241	0.2152:0.1353:0.6496:0.0	.	936	O75762	TRPA1_HUMAN	M	788;936	ENSP00000428151:L788M;ENSP00000262209:L936M	ENSP00000262209:L936M	L	-	1	2	TRPA1	73108495	0.907000	0.30839	0.448000	0.26945	0.027000	0.11550	1.242000	0.32755	0.263000	0.21812	-0.176000	0.13171	CTG		0.358	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72958840	72958840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72958840C>T	ENST00000262209.4	-	17	2176	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	657					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.E657*(1)|p.E657K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATTATACTCGATCTGTAGA	0.299																																					p.E657K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1969A	8						.						108.0	116.0	113.0					8																	72958840		2203	4300	6503	73121394	SO:0001583	missense	8989	exon17			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1969G>A	8.37:g.72958840C>T	ENSP00000262209:p.Glu657Lys	Somatic		Capture	Illumina HiSeq	Phase_I	73121394	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981983	0.34942	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.79141	-1.24;-1.24	4.89	3.94	0.45596	.	0.155894	0.56097	D	0.000029	T	0.79100	0.4389	M	0.73962	2.25	0.51767	D	0.999935	D	0.65815	0.995	P	0.49853	0.624	T	0.77016	-0.2744	10	0.08381	T	0.77	-23.9954	14.9009	0.70678	0.0:0.8561:0.1439:0.0	.	657	O75762	TRPA1_HUMAN	K	509;657	ENSP00000428151:E509K;ENSP00000262209:E657K	ENSP00000262209:E657K	E	-	1	0	TRPA1	73121394	0.995000	0.38212	0.968000	0.41197	0.124000	0.20399	3.402000	0.52608	2.402000	0.81655	0.555000	0.69702	GAG		0.299	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72959421	72959421	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72959421A>C	ENST00000262209.4	-	16	2134	c.1927T>G	c.(1927-1929)Ttg>Gtg	p.L643V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	643					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.L643V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTGGAATGCAACATGCAGAAA	0.289																																					p.L643V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1927G	8						.						75.0	84.0	81.0					8																	72959421		2202	4296	6498	73121975	SO:0001583	missense	8989	exon16			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1927T>G	8.37:g.72959421A>C	ENSP00000262209:p.Leu643Val	Somatic		Capture	Illumina HiSeq	Phase_I	73121975	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	0.470	-0.884997	0.02511	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.76448	-1.02;-1.02	5.28	-10.5	0.00291	.	1.373370	0.04337	N	0.353343	T	0.39809	0.1092	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25710	-1.0124	10	0.29301	T	0.29	0.2515	0.638	0.00806	0.1826:0.2233:0.2465:0.3476	.	643	O75762	TRPA1_HUMAN	V	495;643	ENSP00000428151:L495V;ENSP00000262209:L643V	ENSP00000262209:L643V	L	-	1	2	TRPA1	73121975	0.000000	0.05858	0.002000	0.10522	0.703000	0.40648	-0.557000	0.05985	-1.085000	0.03088	-0.425000	0.05940	TTG		0.289	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72968057	72968057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72968057C>T	ENST00000262209.4	-	11	1435	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	410					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.D410N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATCGTTGTCTTCATCCATT	0.368																																					p.D410N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	8						.						51.0	54.0	53.0					8																	72968057		2203	4300	6503	73130611	SO:0001583	missense	8989	exon11			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1228G>A	8.37:g.72968057C>T	ENSP00000262209:p.Asp410Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73130611	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905115	0.92035	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.73681	-0.77;-0.77	5.1	5.1	0.69264	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86648	0.1896	10	0.46703	T	0.11	-23.7724	18.8547	0.92247	0.0:1.0:0.0:0.0	.	410	O75762	TRPA1_HUMAN	N	262;410	ENSP00000428151:D262N;ENSP00000262209:D410N	ENSP00000262209:D410N	D	-	1	0	TRPA1	73130611	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.653000	0.74382	2.521000	0.84997	0.650000	0.86243	GAC		0.368	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72975037	72975037	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72975037C>A	ENST00000262209.4	-	6	1011	c.804G>T	c.(802-804)gtG>gtT	p.V268V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	268					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.V268V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGTTACCTCCACTGGGTCTA	0.358																																					p.V268V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804T	8						.						120.0	111.0	114.0					8																	72975037		2203	4300	6503	73137591	SO:0001819	synonymous_variant	8989	exon6			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.804G>T	8.37:g.72975037C>A		Somatic		Capture	Illumina HiSeq	Phase_I	73137591	NM_007332	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.358	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72984052	72984052	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:72984052C>T	ENST00000262209.4	-	2	369	c.162G>A	c.(160-162)aaG>aaA	p.K54K		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	54					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.K54N(2)|p.K54K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTTTAATTTCTTTTGCTTAT	0.353																																					p.K54K												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G162A	8						.						131.0	117.0	121.0					8																	72984052		2203	4300	6503	73146606	SO:0001819	synonymous_variant	8989	exon2			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.162G>A	8.37:g.72984052C>T		Somatic		Capture	Illumina HiSeq	Phase_I	73146606	NM_007332	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
KCNB2	9312	broad.mit.edu	37	8	73848788	73848788	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:73848788C>A	ENST00000523207.1	+	3	1786	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	400					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L400M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGTGGGAGGTCTGTGCTGTAT	0.443																																					p.L400M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198A	8						.						97.0	95.0	96.0					8																	73848788		2203	4300	6503	74011342	SO:0001583	missense	9312	exon3			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1198C>A	8.37:g.73848788C>A	ENSP00000430846:p.Leu400Met	Somatic		Capture	Illumina HiSeq	Phase_I	74011342	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141038	0.37825	.	.	ENSG00000182674	ENST00000523207	D	0.98701	-5.08	5.74	4.86	0.63082	Ion transport (1);	0.000000	0.40728	N	0.001024	D	0.98576	0.9524	L	0.56280	1.765	0.41166	D	0.986136	D	0.76494	0.999	D	0.75484	0.986	D	0.99780	1.1027	10	0.87932	D	0	.	11.8199	0.52232	0.0:0.8592:0.0:0.1408	.	400	Q92953	KCNB2_HUMAN	M	400	ENSP00000430846:L400M	ENSP00000430846:L400M	L	+	1	2	KCNB2	74011342	0.944000	0.32072	0.998000	0.56505	0.912000	0.54170	2.138000	0.42140	1.426000	0.47256	-0.140000	0.14226	CTG		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
TMEM70	54968	broad.mit.edu	37	8	74893855	74893855	+	Nonstop_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:74893855G>T	ENST00000312184.5	+	3	855	c.782G>T	c.(781-783)tGa>tTa	p.*261L	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	0					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)		p.*261L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GATGACAAATGAGCCTATTTG	0.313																																					p.X261L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G782T	8						.						35.0	39.0	38.0					8																	74893855		2172	4294	6466	75056409	SO:0001578	stop_lost	54968	exon3			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.782G>T	8.37:g.74893855G>T	ENSP00000312599:p.*261Leuext*17	Somatic		Capture	Illumina HiSeq	Phase_I	75056409	NM_017866	E9PDY9|Q9NWY5	Nonstop_Mutation	SNP	ENST00000312184.5	37	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174587	0.21704	.	.	ENSG00000175606	ENST00000312184	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6233	0.56616	0.075:0.0:0.925:0.0	.	.	.	.	L	261	.	.	X	+	2	2	TMEM70	75056409	0.520000	0.26250	0.971000	0.41717	0.141000	0.21300	0.000000	0.12993	2.802000	0.96397	0.655000	0.94253	TGA		0.313	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866	
PI15	51050	broad.mit.edu	37	8	75737530	75737530	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:75737530C>A	ENST00000260113.2	+	2	225	c.46C>A	c.(46-48)Ctc>Atc	p.L16I	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16I	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	16						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.L16I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463																																					p.L16I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C46A	8						.						237.0	234.0	235.0					8																	75737530		2203	4300	6503	75900085	SO:0001583	missense	51050	exon2			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.46C>A	8.37:g.75737530C>A	ENSP00000260113:p.Leu16Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75900085	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524054	0.27299	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08370	3.1;3.1	4.77	3.89	0.44902	.	0.237373	0.37393	N	0.002112	T	0.07324	0.0185	L	0.51422	1.61	0.40941	D	0.984468	B	0.15930	0.015	B	0.14578	0.011	T	0.10337	-1.0634	10	0.05620	T	0.96	.	10.1927	0.43037	0.0:0.7887:0.136:0.0753	.	16	O43692	PI15_HUMAN	I	16	ENSP00000260113:L16I;ENSP00000428567:L16I	ENSP00000260113:L16I	L	+	1	0	PI15	75900085	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.040000	0.41203	1.365000	0.46057	0.561000	0.74099	CTC		0.463	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
PI15	51050	broad.mit.edu	37	8	75737612	75737612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:75737612C>T	ENST00000260113.2	+	2	307	c.128C>T	c.(127-129)gCt>gTt	p.A43V	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.A43V	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	43						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.A43V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATTGAAGCAGCTCTGAAAGCA	0.458																																					p.A43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	8						.						117.0	111.0	113.0					8																	75737612		2203	4300	6503	75900167	SO:0001583	missense	51050	exon2			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.128C>T	8.37:g.75737612C>T	ENSP00000260113:p.Ala43Val	Somatic		Capture	Illumina HiSeq	Phase_I	75900167	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	7.780	0.709239	0.15239	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08634	3.07;3.07	4.91	4.91	0.64330	.	0.555053	0.18418	N	0.141860	T	0.08313	0.0207	L	0.43152	1.355	0.46542	D	0.999096	B	0.10296	0.003	B	0.06405	0.002	T	0.17198	-1.0377	10	0.11794	T	0.64	.	13.5993	0.62010	0.155:0.845:0.0:0.0	.	43	O43692	PI15_HUMAN	V	43	ENSP00000260113:A43V;ENSP00000428567:A43V	ENSP00000260113:A43V	A	+	2	0	PI15	75900167	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	2.697000	0.47060	2.721000	0.93114	0.655000	0.94253	GCT		0.458	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
CRISPLD1	83690	broad.mit.edu	37	8	75941617	75941617	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:75941617C>A	ENST00000262207.4	+	14	1788				CRISPLD1_ENST00000517786.1_Intron|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000523524.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1						face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.?(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTTTACCTTCTCAGCTGTCC	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						76.0	68.0	71.0					8																	75941617		2203	4300	6503	76104172	SO:0001627	intron_variant	83690	.			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1321-5C>A	8.37:g.75941617C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76104172	.	B2RA60|B7Z929	Intron	SNP	ENST00000262207.4	37	CCDS6219.1																																																																																				0.433	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	
ZFHX4	79776	broad.mit.edu	37	8	77617649	77617649	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77617649G>T	ENST00000521891.2	+	2	1774	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E442D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E442D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E442D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E442D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGACCAAGAGAACAACTGTG	0.493										HNSCC(33;0.089)																											p.E442D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1326T	8						.						60.0	58.0	59.0					8																	77617649		1994	4170	6164	77780204	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1326G>T	8.37:g.77617649G>T	ENSP00000430497:p.Glu442Asp	Somatic		Capture	Illumina HiSeq	Phase_I	77780204	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	4.903	0.167841	0.09339	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.78;0.76;0.75	5.5	2.56	0.30785	.	0.000000	0.44688	U	0.000422	T	0.19366	0.0465	N	0.03608	-0.345	0.40791	D	0.983252	B;B;B;B	0.14012	0.005;0.009;0.009;0.0	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.04693	-1.0933	10	0.15499	T	0.54	.	6.4111	0.21692	0.228:0.0:0.6388:0.1332	.	442;442;442;442	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	442	ENSP00000430497:E442D;ENSP00000399605:E442D;ENSP00000050961:E442D;ENSP00000430848:E442D	ENSP00000050961:E442D	E	+	3	2	ZFHX4	77780204	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	2.663000	0.46774	0.885000	0.36088	-0.136000	0.14681	GAG		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77618584	77618584	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77618584G>A	ENST00000521891.2	+	2	2709	c.2261G>A	c.(2260-2262)gGa>gAa	p.G754E	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G754E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGGCTGCGGAACACCCTCT	0.527										HNSCC(33;0.089)																											p.G754E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2261A	8						.						37.0	42.0	40.0					8																	77618584		2101	4258	6359	77781139	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2261G>A	8.37:g.77618584G>A	ENSP00000430497:p.Gly754Glu	Somatic		Capture	Illumina HiSeq	Phase_I	77781139	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763227	0.49574	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.1	5.1	0.69264	.	0.000000	0.44285	U	0.000477	T	0.61590	0.2359	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.997;0.964	P;D;D;P	0.65987	0.873;0.94;0.94;0.693	T	0.58405	-0.7642	10	0.41790	T	0.15	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	754;754;754;754	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	E	754	ENSP00000430497:G754E;ENSP00000399605:G754E;ENSP00000050961:G754E;ENSP00000430848:G754E	ENSP00000050961:G754E	G	+	2	0	ZFHX4	77781139	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	7.674000	0.83992	2.803000	0.96430	0.650000	0.86243	GGA		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77764977	77764977	+	Silent	SNP	C	C	T	rs183665267	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77764977C>T	ENST00000521891.2	+	10	6268	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	ZFHX4_ENST00000518282.1_Silent_p.G1914G|ZFHX4_ENST00000050961.6_Silent_p.G1895G|ZFHX4_ENST00000455469.2_Silent_p.G1895G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G1940G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGTGAAGGCGAAAACACTG	0.378										HNSCC(33;0.089)			C|||	11	0.00219649	0.0083	0.0	5008	,	,		16927	0.0		0.0	False		,,,				2504	0.0				p.G1940G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5820T	8						.	C		22,3884		0,22,1931	63.0	60.0	61.0		5820	-8.4	0.0	8		61	1,8315		0,1,4157	no	coding-synonymous	ZFHX4	NM_024721.4		0,23,6088	TT,TC,CC		0.012,0.5632,0.1882		1940/3617	77764977	23,12199	1953	4158	6111	77927532	SO:0001819	synonymous_variant	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5820C>T	8.37:g.77764977C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77927532	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.378	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77766064	77766064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77766064C>T	ENST00000521891.2	+	10	7355	c.6907C>T	c.(6907-6909)Cgg>Tgg	p.R2303W	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2277W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2258W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2258W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2287W(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACTAATGAACGGTACATTCG	0.378										HNSCC(33;0.089)																											p.R2303W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6907T	8						.						93.0	90.0	91.0					8																	77766064		1935	4141	6076	77928619	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6907C>T	8.37:g.77766064C>T	ENSP00000430497:p.Arg2303Trp	Somatic		Capture	Illumina HiSeq	Phase_I	77928619	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757550	0.49468	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60548	0.18;0.23;0.21;0.2	4.34	3.38	0.38709	.	0.000000	0.41097	U	0.000960	T	0.71316	0.3325	M	0.61703	1.905	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.74925	-0.3498	10	0.87932	D	0	.	13.3209	0.60432	0.2384:0.7616:0.0:0.0	.	2258;2258;2303	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	W	2303;2287;2258;2258;2277	ENSP00000430497:R2303W;ENSP00000399605:R2258W;ENSP00000050961:R2258W;ENSP00000430848:R2277W	ENSP00000050961:R2258W	R	+	1	2	ZFHX4	77928619	1.000000	0.71417	0.908000	0.35775	0.974000	0.67602	3.712000	0.54875	2.417000	0.82017	0.650000	0.86243	CGG		0.378	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77767757	77767757	+	Missense_Mutation	SNP	C	C	A	rs553133696		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77767757C>A	ENST00000521891.2	+	10	9048	c.8600C>A	c.(8599-8601)tCt>tAt	p.S2867Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2841Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2822Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2822Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2822					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2851Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCTCTTTTCTCTCACAAGC	0.493										HNSCC(33;0.089)																											p.S2867Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8600A	8						.						96.0	98.0	97.0					8																	77767757		1973	4146	6119	77930312	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8600C>A	8.37:g.77767757C>A	ENSP00000430497:p.Ser2867Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	77930312	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550681	0.27739	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.51;0.56;0.53;0.52	5.16	4.28	0.50868	.	0.000000	0.44285	U	0.000479	T	0.64216	0.2578	L	0.43152	1.355	0.43588	D	0.995936	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.77004	0.974;0.989;0.989	T	0.67082	-0.5760	10	0.66056	D	0.02	.	13.7024	0.62618	0.0:0.9258:0.0:0.0742	.	2822;2822;2867	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2867;2851;2822;2822;2841	ENSP00000430497:S2867Y;ENSP00000399605:S2822Y;ENSP00000050961:S2822Y;ENSP00000430848:S2841Y	ENSP00000050961:S2822Y	S	+	2	0	ZFHX4	77930312	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.123000	0.57917	1.402000	0.46780	0.491000	0.48974	TCT		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77775616	77775616	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:77775616C>A	ENST00000521891.2	+	11	10114	c.9666C>A	c.(9664-9666)atC>atA	p.I3222I	ZFHX4_ENST00000518282.1_Silent_p.I3196I|ZFHX4_ENST00000050961.6_Silent_p.I3173I|ZFHX4_ENST00000455469.2_Silent_p.I3177I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I3206I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAAAAAATCTCATCTGCTC	0.418										HNSCC(33;0.089)																											p.I3222I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9666A	8						.						138.0	133.0	135.0					8																	77775616		1872	4106	5978	77938171	SO:0001819	synonymous_variant	79776	exon11				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9666C>A	8.37:g.77775616C>A		Somatic		Capture	Illumina HiSeq	Phase_I	77938171	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
HEY1	23462	broad.mit.edu	37	8	80677780	80677780	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:80677780A>G	ENST00000354724.3	-	5	757	c.558T>C	c.(556-558)caT>caC	p.H186H	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_Silent_p.H96H|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000337919.5_Silent_p.H190H	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	186					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H186H(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TGTGCGGGTGATGTCCGAAGA	0.692			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H186H			Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T558C	8						.						33.0	35.0	35.0					8																	80677780		2202	4298	6500	80840335	SO:0001819	synonymous_variant	23462	exon5			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.558T>C	8.37:g.80677780A>G		Somatic	1200	Capture	Illumina HiSeq	Phase_I	80840335	NM_012258	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																				0.692	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258	
MRPS28	28957	broad.mit.edu	37	8	80915396	80915396	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:80915396T>C	ENST00000276585.4	-	2	255	c.233A>G	c.(232-234)gAa>gGa	p.E78G	MRPS28_ENST00000521434.1_Intron|MRPS28_ENST00000521605.1_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.E192G|MRPS28_ENST00000522987.1_Intron	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	78						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E78G(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			TGCAAAGGATTCCACATTTTT	0.333																																					p.E78G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A233G	8						.						64.0	63.0	63.0					8																	80915396		2203	4300	6503	81077951	SO:0001583	missense	28957	exon2			AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.233A>G	8.37:g.80915396T>C	ENSP00000276585:p.Glu78Gly	Somatic		Capture	Illumina HiSeq	Phase_I	81077951	NM_014018	B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	CCDS6226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.038581|4.038581	0.75617|0.75617	.|.	.|.	ENSG00000147586;ENSG00000076554|ENSG00000147586	ENST00000276585;ENST00000537855|ENST00000518271	T;T|.	0.46451|.	0.87;0.87|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.322422|.	0.32987|.	N|.	0.005411|.	T|T	0.69691|0.69691	0.3139|0.3139	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.56278|.	0.795|.	T|T	0.68534|0.68534	-0.5383|-0.5383	10|5	0.66056|.	D|.	0.02|.	.|.	15.1231|15.1231	0.72460|0.72460	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	78|.	Q9Y2Q9|.	RT28_HUMAN|.	G|D	78;192|101	ENSP00000276585:E78G;ENSP00000438113:E192G|.	ENSP00000276585:E78G|.	E|N	-|-	2|1	0|0	MRPS28;TPD52|MRPS28	81077951|81077951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.079000|5.079000	0.64431|0.64431	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.333	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018	
TPD52	7163	broad.mit.edu	37	8	80956438	80956438	+	Intron	SNP	C	C	T	rs375764073		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:80956438C>T	ENST00000379097.3	-	5	869				TPD52_ENST00000379096.5_Intron|TPD52_ENST00000520527.1_Missense_Mutation_p.R180H|TPD52_ENST00000517427.1_Intron|TPD52_ENST00000523395.1_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.R171H|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000518937.1_Missense_Mutation_p.R140H	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R140H(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTGAATGGAACGTATACTAAG	0.323																																					p.R140H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G419A	8						.	C	,HIS/ARG,	2,3662		0,2,1830	70.0	67.0	68.0		,419,	6.1	1.0	8		68	0,8164		0,0,4082	no	intron,missense,intron	TPD52	NM_001025252.1,NM_001025253.1,NM_005079.2	,29,	0,2,5912	TT,TC,CC		0.0,0.0546,0.0169	,,	,140/208,	80956438	2,11826	1832	4082	5914	81118993	SO:0001627	intron_variant	7163	exon6			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.507-1535G>A	8.37:g.80956438C>T		Somatic		Capture	Illumina HiSeq	Phase_I	81118993	NM_001025253	B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319577	0.81469	5.46E-4	0.0	ENSG00000076554	ENST00000518937;ENST00000520527;ENST00000448733	T;T;T	0.23950	1.88;1.88;1.93	6.06	6.06	0.98353	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.04103	-1.0977	8	0.07175	T	0.84	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	140	E5RKB4	.	H	140;180;171	ENSP00000429915:R140H;ENSP00000429309:R180H;ENSP00000410222:R171H	ENSP00000410222:R171H	R	-	2	0	TPD52	81118993	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.537000	0.53590	2.879000	0.98667	0.650000	0.86243	CGT		0.323	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079	
PAG1	55824	broad.mit.edu	37	8	81889139	81889139	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:81889139G>A	ENST00000220597.4	-	9	1649	c.939C>T	c.(937-939)atC>atT	p.I313I	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	313					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.I313I(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACATAGCTGAGATCTAGGAGA	0.468																																					p.I313I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	8						.						85.0	90.0	88.0					8																	81889139		2203	4300	6503	82051694	SO:0001819	synonymous_variant	55824	exon9			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.939C>T	8.37:g.81889139G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82051694	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																				0.468	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440	
SLC10A5	347051	broad.mit.edu	37	8	82606305	82606305	+	Silent	SNP	G	G	A	rs150881524		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:82606305G>A	ENST00000518568.1	-	1	2104	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	301						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.F301F(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTCTCTCTAAGAAGCTTGCTT	0.318																																					p.F301F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C903T	8						.						55.0	57.0	57.0					8																	82606305		2203	4300	6503	82768860	SO:0001819	synonymous_variant	347051	exon1				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.903C>T	8.37:g.82606305G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82768860	NM_001010893	B2RN26	Silent	SNP	ENST00000518568.1	37	CCDS34915.1																																																																																				0.318	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
SLC10A5	347051	broad.mit.edu	37	8	82606480	82606480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:82606480G>A	ENST00000518568.1	-	1	1929	c.728C>T	c.(727-729)aCa>aTa	p.T243I		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	243						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.T243I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGCCAATAATGTTGATGTGCA	0.423																																					p.T243I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C728T	8						.						87.0	88.0	88.0					8																	82606480		2203	4300	6503	82769035	SO:0001583	missense	347051	exon1				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.728C>T	8.37:g.82606480G>A	ENSP00000428612:p.Thr243Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82769035	NM_001010893	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467697	0.43839	.	.	ENSG00000253598	ENST00000518568	T	0.16196	2.36	6.01	4.23	0.50019	.	0.000000	0.56097	D	0.000031	T	0.31136	0.0787	M	0.91818	3.245	0.41534	D	0.988477	B	0.29162	0.235	B	0.32465	0.146	T	0.17018	-1.0383	10	0.87932	D	0	-9.7466	10.9823	0.47501	0.1516:0.0:0.8484:0.0	.	243	Q5PT55	NTCP5_HUMAN	I	243	ENSP00000428612:T243I	ENSP00000428612:T243I	T	-	2	0	SLC10A5	82769035	1.000000	0.71417	0.489000	0.27452	0.201000	0.24016	5.885000	0.69736	0.887000	0.36136	-0.225000	0.12378	ACA		0.423	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
LRRCC1	85444	broad.mit.edu	37	8	86053729	86053729	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:86053729T>G	ENST00000360375.3	+	18	3102	c.2953T>G	c.(2953-2955)Tgt>Ggt	p.C985G	LRRCC1_ENST00000414626.2_Missense_Mutation_p.C965G	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	985					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C985G(1)|p.C965G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGCAGAAGTGTATTGATTC	0.303																																					p.C985G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2953G	8						.						62.0	60.0	61.0					8																	86053729		1832	4098	5930	86240981	SO:0001583	missense	85444	exon18			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2953T>G	8.37:g.86053729T>G	ENSP00000353538:p.Cys985Gly	Somatic		Capture	Illumina HiSeq	Phase_I	86240981	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	5.081	0.200571	0.09652	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.28666	1.6;1.6	5.26	3.95	0.45737	.	0.732054	0.11841	N	0.524293	T	0.17577	0.0422	N	0.22421	0.69	0.23936	N	0.996413	B;B;B	0.30033	0.266;0.266;0.065	B;B;B	0.32211	0.069;0.142;0.041	T	0.15607	-1.0431	10	0.23302	T	0.38	2.6388	2.5482	0.04742	0.0:0.189:0.2926:0.5184	.	965;892;985	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	G	985;965	ENSP00000353538:C985G;ENSP00000394695:C965G	ENSP00000353538:C985G	C	+	1	0	LRRCC1	86240981	0.998000	0.40836	0.743000	0.31040	0.259000	0.26198	2.335000	0.43929	2.117000	0.64856	0.528000	0.53228	TGT		0.303	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
WWP1	11059	broad.mit.edu	37	8	87450835	87450835	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:87450835G>T	ENST00000517970.1	+	17	2078	c.1771G>T	c.(1771-1773)Gac>Tac	p.D591Y	WWP1_ENST00000265428.4_Missense_Mutation_p.D591Y|WWP1_ENST00000341922.2_Missense_Mutation_p.D461Y|WWP1_ENST00000349423.2_Missense_Mutation_p.D373Y	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	591	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D591Y(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AAAACCCTATGACTTGAGGAG	0.308																																					p.D591Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1771T	8						.						65.0	67.0	66.0					8																	87450835		2203	4300	6503	87519951	SO:0001583	missense	11059	exon17			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1771G>T	8.37:g.87450835G>T	ENSP00000427793:p.Asp591Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	87519951	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.452216|4.452216	0.84209|0.84209	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.80738|.	-1.41;-1.41;-1.41;-1.41|.	5.0|5.0	5.0|5.0	0.66597|0.66597	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85699|.	0.5757|.	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.982;1.0|.	D|.	0.88879|.	0.3338|.	10|.	0.87932|.	D|.	0|.	.|.	18.6585|18.6585	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373;591|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	Y|L	591;591;461;373|55	ENSP00000427793:D591Y;ENSP00000265428:D591Y;ENSP00000340564:D461Y;ENSP00000342665:D373Y|.	ENSP00000265428:D591Y|.	D|X	+|+	1|2	0|2	WWP1|WWP1	87519951|87519951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.403000|9.403000	0.97302|0.97302	2.463000|2.463000	0.83235|0.83235	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.308	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
RMDN1	51115	broad.mit.edu	37	8	87487150	87487150	+	Missense_Mutation	SNP	G	G	T	rs199906565		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:87487150G>T	ENST00000406452.3	-	9	952	c.793C>A	c.(793-795)Ctt>Att	p.L265I	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.L235I	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	265						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.L265I(1)									TTTCCTAAAAGAAGTAAGTTT	0.363																																					p.L265I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793A	8						.						149.0	136.0	141.0					8																	87487150		2203	4300	6503	87556266	SO:0001583	missense	51115	exon9			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.793C>A	8.37:g.87487150G>T	ENSP00000385927:p.Leu265Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87556266	NM_016033	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.59|14.59	2.579599|2.579599	0.46006|0.46006	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000517710;ENST00000519639;ENST00000522942|ENST00000406452;ENST00000430676	.|T;T	.|0.46451	.|0.87;0.87	5.49|5.49	4.6|4.6	0.57074|0.57074	.|Tetratricopeptide-like helical (1);	.|0.291592	.|0.38663	.|N	.|0.001609	T|T	0.38374|0.38374	0.1038|0.1038	L|L	0.54323|0.54323	1.7|1.7	0.32713|0.32713	N|N	0.511274|0.511274	.|P;B	.|0.38827	.|0.649;0.38	.|B;B	.|0.42030	.|0.228;0.373	T|T	0.51616|0.51616	-0.8683|-0.8683	5|10	.|0.41790	.|T	.|0.15	-7.807|-7.807	6.8714|6.8714	0.24123|0.24123	0.2485:0.0:0.7515:0.0|0.2485:0.0:0.7515:0.0	.|.	.|235;265	.|B4DZW6;Q96DB5	.|.;RMD1_HUMAN	L|I	51;110;70|265;235	.|ENSP00000385927:L265I;ENSP00000409661:L235I	.|ENSP00000385927:L265I	F|L	-|-	3|1	2|0	FAM82B|FAM82B	87556266|87556266	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.974000|0.974000	0.67602|0.67602	3.437000|3.437000	0.52863|0.52863	2.727000|2.727000	0.93392|0.93392	0.563000|0.563000	0.77884|0.77884	TTC|CTT		0.363	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	
CNGB3	54714	broad.mit.edu	37	8	87588247	87588247	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:87588247C>A	ENST00000320005.5	-	18	2262	c.2215G>T	c.(2215-2217)Gat>Tat	p.D739Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	739					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.D739Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTATCTTTAtcttcattttct	0.368																																					p.D739Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2215T	8						.						201.0	204.0	203.0					8																	87588247		2203	4300	6503	87657363	SO:0001583	missense	54714	exon18			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2215G>T	8.37:g.87588247C>A	ENSP00000316605:p.Asp739Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	87657363	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	8.098	0.775921	0.16051	.	.	ENSG00000170289	ENST00000320005	T	0.61859	0.07	2.6	-5.2	0.02823	.	2.094940	0.04455	U	0.373434	T	0.31451	0.0797	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12760	-1.0535	10	0.54805	T	0.06	.	2.6676	0.05057	0.469:0.3009:0.1209:0.1092	.	734;739	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Y	739	ENSP00000316605:D739Y	ENSP00000316605:D739Y	D	-	1	0	CNGB3	87657363	0.486000	0.25980	0.119000	0.21687	0.348000	0.29142	0.212000	0.17497	-2.116000	0.00830	-0.518000	0.04402	GAT		0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNBD1	168975	broad.mit.edu	37	8	87917430	87917430	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:87917430T>C	ENST00000518476.1	+	3	323					NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1									p.?(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGGTAATGATACCTTCTTTT	0.373																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	8						.						53.0	47.0	49.0					8																	87917430		1872	4119	5991	87986546	SO:0001627	intron_variant	168975	.			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.272+8T>C	8.37:g.87917430T>C		Somatic		Capture	Illumina HiSeq	Phase_I	87986546	.		Intron	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																				0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
CNBD1	168975	broad.mit.edu	37	8	88298888	88298888	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:88298888C>A	ENST00000518476.1	+	8	1082	c.1031C>A	c.(1030-1032)cCt>cAt	p.P344H		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	344								p.P344H(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAAAAATTTCCTCCAGGTCAT	0.289																																					p.P344H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1031A	8						.						54.0	48.0	50.0					8																	88298888		1690	3755	5445	88368004	SO:0001583	missense	168975	exon8			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1031C>A	8.37:g.88298888C>A	ENSP00000430073:p.Pro344His	Somatic		Capture	Illumina HiSeq	Phase_I	88368004	NM_173538		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.729836|3.729836	0.69074|0.69074	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000523299|ENST00000518476	.|D	.|0.93076	.|-3.16	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	.|0.532999	.|0.17325	.|N	.|0.178339	D|D	0.96087|0.96087	0.8725|0.8725	M|M	0.66939|0.66939	2.045|2.045	0.32381|0.32381	N|N	0.554506|0.554506	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.96206|0.96206	0.9149|0.9149	5|10	.|0.59425	.|D	.|0.04	-11.9095|-11.9095	15.2216|15.2216	0.73316|0.73316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|344	.|Q8NA66	.|CNBD1_HUMAN	I|H	36|344	.|ENSP00000430073:P344H	.|ENSP00000430073:P344H	L|P	+|+	1|2	0|0	CNBD1|CNBD1	88368004|88368004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.341000|2.341000	0.43983|0.43983	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522																																					p.F39F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C117T	8						.						90.0	81.0	84.0					8																	88886083		2203	4300	6503	88955199	SO:0001819	synonymous_variant	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.117C>T	8.37:g.88886083G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88955199	NM_152418		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
MMP16	4325	broad.mit.edu	37	8	89081594	89081594	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:89081594C>A	ENST00000286614.6	-	7	1504				MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)						chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	cctgattgttctttgttagta	0.358																																					.												.	.	0			.	8						.						137.0	117.0	123.0					8																	89081594		1833	4069	5902	89150710	SO:0001627	intron_variant	4325	.			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1222+5238G>T	8.37:g.89081594C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89150710	.	B2RAN7|Q14824|Q52H48	Intron	SNP	ENST00000286614.6	37	CCDS6246.1																																																																																				0.358	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
MMP16	4325	broad.mit.edu	37	8	89130940	89130940	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:89130940T>G	ENST00000286614.6	-	5	1141	c.860A>C	c.(859-861)cAg>cCg	p.Q287P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	287					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q287P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATATATCTTCTGGATGCCCTG	0.393																																					p.Q287P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A860C	8						.						173.0	151.0	158.0					8																	89130940		2203	4300	6503	89200056	SO:0001583	missense	4325	exon5			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.860A>C	8.37:g.89130940T>G	ENSP00000286614:p.Gln287Pro	Somatic		Capture	Illumina HiSeq	Phase_I	89200056	NM_005941	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288419	0.80803	.	.	ENSG00000156103	ENST00000286614	T	0.26373	1.74	5.19	5.19	0.71726	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.82874	-0.0241	10	0.87932	D	0	.	15.0396	0.71777	0.0:0.0:0.0:1.0	.	287;287	P51512-2;P51512	.;MMP16_HUMAN	P	287	ENSP00000286614:Q287P	ENSP00000286614:Q287P	Q	-	2	0	MMP16	89200056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.952000	0.56665	0.455000	0.32223	CAG		0.393	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
RIPK2	8767	broad.mit.edu	37	8	90775101	90775101	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:90775101C>A	ENST00000220751.4	+	2	532	c.218C>A	c.(217-219)gCt>gAt	p.A73D	RIPK2_ENST00000540020.1_Intron	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.A73D(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TTACACAAAGCTAGATTTAGT	0.279																																					p.A73D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C218A	8						.						84.0	87.0	86.0					8																	90775101		2203	4296	6499	90844238	SO:0001583	missense	8767	exon2			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.218C>A	8.37:g.90775101C>A	ENSP00000220751:p.Ala73Asp	Somatic		Capture	Illumina HiSeq	Phase_I	90844238	NM_003821	B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161923	0.94727	.	.	ENSG00000104312	ENST00000220751	T	0.66280	-0.2	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000684	T	0.78898	0.4356	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80670	-0.1279	10	0.72032	D	0.01	-17.5829	18.9678	0.92702	0.0:1.0:0.0:0.0	.	73	O43353	RIPK2_HUMAN	D	73	ENSP00000220751:A73D	ENSP00000220751:A73D	A	+	2	0	RIPK2	90844238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.486000	0.83907	0.650000	0.86243	GCT		0.279	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1		
OSGIN2	734	broad.mit.edu	37	8	90933397	90933397	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:90933397A>C	ENST00000297438.2	+	5	841	c.486A>C	c.(484-486)cgA>cgC	p.R162R	OSGIN2_ENST00000520659.1_Silent_p.R206R|OSGIN2_ENST00000451899.2_Silent_p.R206R	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	162					meiotic nuclear division (GO:0007126)			p.R162R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGTAAACGAAGGTAAAGAT	0.333																																					p.R162R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A486C	8						.						84.0	95.0	92.0					8																	90933397		2203	4300	6503	91002571	SO:0001819	synonymous_variant	734	exon5			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.486A>C	8.37:g.90933397A>C		Somatic		Capture	Illumina HiSeq	Phase_I	91002571	NM_004337		Silent	SNP	ENST00000297438.2	37	CCDS6248.1																																																																																				0.333	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
OTUD6B	51633	broad.mit.edu	37	8	92096314	92096314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92096314G>T	ENST00000285420.4	+	6	958	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	OTUD6B_ENST00000404789.3_Nonsense_Mutation_p.E156*	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	257				VNIVTENCS -> GKHSY (in Ref. 1; AAD34073). {ECO:0000305}.			cysteine-type peptidase activity (GO:0008234)	p.E257*(1)|p.E287*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AGTTGGTGAAGAATATTCAAA	0.284																																					p.E287X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G859T	8						.						50.0	45.0	47.0					8																	92096314		2200	4294	6494	92165490	SO:0001587	stop_gained	51633	exon6				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.859G>T	8.37:g.92096314G>T	ENSP00000285420:p.Glu287*	Somatic		Capture	Illumina HiSeq	Phase_I	92165490	NM_016023	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	37	6.499811	0.97616	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.3371	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	287;156	.	ENSP00000285420:E287X	E	+	1	0	OTUD6B	92165490	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	8.599000	0.90856	2.757000	0.94681	0.563000	0.77884	GAA		0.284	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023	
SLC26A7	115111	broad.mit.edu	37	8	92307868	92307868	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92307868C>T	ENST00000276609.3	+	4	653	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SLC26A7_ENST00000523719.1_Silent_p.S138S|SLC26A7_ENST00000309536.2_Silent_p.S138S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.S138S(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGGCTTATCCGACTTTGAAA	0.483																																					p.S138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	8						.						157.0	131.0	140.0					8																	92307868		2203	4300	6503	92377044	SO:0001819	synonymous_variant	115111	exon4			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.414C>T	8.37:g.92307868C>T		Somatic		Capture	Illumina HiSeq	Phase_I	92377044	NM_134266		Silent	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	4.939	0.174415	0.09391	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.48	-1.28	0.09318	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	1.7071	0.02884	0.1239:0.2213:0.1288:0.526	.	.	.	.	L	6	.	.	P	+	2	0	SLC26A7	92377044	0.996000	0.38824	0.933000	0.37362	0.413000	0.31143	0.070000	0.14573	-0.473000	0.06871	-0.471000	0.05019	CCG		0.483	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
SLC26A7	115111	broad.mit.edu	37	8	92401570	92401570	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92401570A>C	ENST00000276609.3	+	16	1919	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	SLC26A7_ENST00000523719.1_Missense_Mutation_p.E560D|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E560D|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.E560D(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTACAGAAGAAGCTTCACAGT	0.438																																					p.E560D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1680C	8						.						255.0	248.0	250.0					8																	92401570		2203	4300	6503	92470746	SO:0001583	missense	115111	exon16			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1680A>C	8.37:g.92401570A>C	ENSP00000276609:p.Glu560Asp	Somatic		Capture	Illumina HiSeq	Phase_I	92470746	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836064	0.50951	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.92858	-3.12;-3.12;-3.11	5.58	-0.614	0.11590	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.281917	0.30879	N	0.008697	D	0.86389	0.5921	M	0.70595	2.14	0.41256	D	0.986743	B;B	0.19817	0.031;0.039	B;B	0.19946	0.016;0.027	T	0.70490	-0.4857	10	0.21540	T	0.41	.	1.6032	0.02679	0.3896:0.1412:0.331:0.1381	.	560;560	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	D	560	ENSP00000428849:E560D;ENSP00000276609:E560D;ENSP00000309504:E560D	ENSP00000276609:E560D	E	+	3	2	SLC26A7	92470746	0.001000	0.12720	0.059000	0.19551	0.519000	0.34347	-0.299000	0.08254	-0.167000	0.10871	0.456000	0.33151	GAA		0.438	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
RUNX1T1	862	broad.mit.edu	37	8	92983070	92983070	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92983070G>A	ENST00000523629.1	-	11	1809	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A463V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A415V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A452V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A425V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A415V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A425V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A415V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	452					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A463V(1)|p.A415V(1)|p.A452V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCATTGACGGCCTCCTCTGT	0.512																																					p.A452V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1355T	8						.						52.0	43.0	46.0					8																	92983070		2203	4300	6503	93052246	SO:0001583	missense	862	exon12			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1355C>T	8.37:g.92983070G>A	ENSP00000428543:p.Ala452Val	Somatic		Capture	Illumina HiSeq	Phase_I	93052246	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151550	0.94645	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.957	D;D;D;P	0.76071	0.96;0.96;0.987;0.771	T	0.72795	-0.4185	10	0.87932	D	0	-13.5946	20.2181	0.98305	0.0:0.0:1.0:0.0	.	463;415;452;425	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	452;425;452;415;415;415;463;425	ENSP00000428543:A452V;ENSP00000379520:A425V;ENSP00000265814:A452V;ENSP00000353504:A415V;ENSP00000390137:A415V;ENSP00000428742:A415V;ENSP00000402257:A463V;ENSP00000430728:A425V	ENSP00000265814:A452V	A	-	2	0	RUNX1T1	93052246	1.000000	0.71417	0.969000	0.41365	0.490000	0.33462	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GCC		0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RUNX1T1	862	broad.mit.edu	37	8	92998469	92998469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92998469C>A	ENST00000523629.1	-	9	1616	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.E399*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.E351*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.E388*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.E361*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.E351*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.E361*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.E351*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	388					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E351*(1)|p.E399*(1)|p.E388*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAATTCAATTCTTCCCGGTCT	0.512																																					p.E388X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G1162T	8						.						133.0	132.0	132.0					8																	92998469		2203	4300	6503	93067645	SO:0001587	stop_gained	862	exon10			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1162G>T	8.37:g.92998469C>A	ENSP00000428543:p.Glu388*	Somatic		Capture	Illumina HiSeq	Phase_I	93067645	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721647	0.96839	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.143	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	388;361;388;351;351;351;399;361	.	ENSP00000265814:E388X	E	-	1	0	RUNX1T1	93067645	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	7.480000	0.81109	2.677000	0.91161	0.655000	0.94253	GAA		0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RUNX1T1	862	broad.mit.edu	37	8	92999110	92999110	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:92999110C>A	ENST00000523629.1	-	8	1532				RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Intron|RUNX1T1_ENST00000396218.1_Intron|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000518844.1_Intron|RUNX1T1_ENST00000422361.2_Intron	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)						fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTACTGATGTCTTACATGGTC	0.368																																					.												.	.	3	Unknown(3)	large_intestine(3)	.	8						.						224.0	194.0	204.0					8																	92999110		2203	4300	6503	93068286	SO:0001627	intron_variant	862	.			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1077+4G>T	8.37:g.92999110C>A		Somatic		Capture	Illumina HiSeq	Phase_I	93068286	.	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Intron	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.368	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RBM12B	389677	broad.mit.edu	37	8	94745970	94745970	+	Missense_Mutation	SNP	C	C	T	rs373712480		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:94745970C>T	ENST00000399300.2	-	3	2882	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R770H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	890							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R890H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACCTTCTGGGCGACCAAAATT	0.438																																					p.R890H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2669A	8						.	C	HIS/ARG	1,3605		0,1,1802	158.0	163.0	161.0		2669	4.0	1.0	8		161	1,8135		0,1,4067	no	missense	RBM12B	NM_203390.2	29	0,2,5869	TT,TC,CC		0.0123,0.0277,0.017	possibly-damaging	890/1002	94745970	2,11740	1803	4068	5871	94815146	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2669G>A	8.37:g.94745970C>T	ENSP00000382239:p.Arg890His	Somatic		Capture	Illumina HiSeq	Phase_I	94815146	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953036	0.53293	2.77E-4	1.23E-4	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07114	3.22;3.22	5.95	4.03	0.46877	.	.	.	.	.	T	0.04092	0.0114	N	0.04508	-0.205	0.22142	N	0.999335	B	0.21688	0.059	B	0.14023	0.01	T	0.39165	-0.9627	9	0.32370	T	0.25	-0.1717	8.5596	0.33503	0.0:0.7385:0.1687:0.0928	.	890	Q8IXT5	RB12B_HUMAN	H	890;770	ENSP00000382239:R890H;ENSP00000427729:R770H	ENSP00000382239:R890H	R	-	2	0	RBM12B	94815146	0.898000	0.30612	0.998000	0.56505	0.959000	0.62525	1.333000	0.33816	1.491000	0.48482	0.563000	0.77884	CGC		0.438	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
RBM12B	389677	broad.mit.edu	37	8	94746849	94746849	+	Missense_Mutation	SNP	C	C	T	rs200747716		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:94746849C>T	ENST00000399300.2	-	3	2003	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R597H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	597							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R597H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCCAAGGGCGCCTGAAGTC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15293	0.0		0.0	False		,,,				2504	0.0				p.R597H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790A	8						.	C	HIS/ARG	5,3663		0,5,1829	46.0	47.0	47.0		1790	-0.1	0.0	8		47	2,8172		0,2,4085	yes	missense	RBM12B	NM_203390.2	29	0,7,5914	TT,TC,CC		0.0245,0.1363,0.0591	benign	597/1002	94746849	7,11835	1834	4087	5921	94816025	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1790G>A	8.37:g.94746849C>T	ENSP00000382239:p.Arg597His	Somatic		Capture	Illumina HiSeq	Phase_I	94816025	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792433	0.50102	0.001363	2.45E-4	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07908	3.2;3.15	3.81	-0.0591	0.13794	.	1.616160	0.03006	N	0.148879	T	0.07143	0.0181	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.37865	-0.9687	10	0.29301	T	0.29	.	7.098	0.25321	0.0:0.4537:0.0:0.5463	.	597	Q8IXT5	RB12B_HUMAN	H	597	ENSP00000382239:R597H;ENSP00000427729:R597H	ENSP00000382239:R597H	R	-	2	0	RBM12B	94816025	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-1.487000	0.02310	-0.038000	0.13624	0.650000	0.86243	CGC		0.632	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
RBM12B	389677	broad.mit.edu	37	8	94747425	94747425	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:94747425C>A	ENST00000399300.2	-	3	1427	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I	RBM12B_ENST00000517700.1_Missense_Mutation_p.R405I|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	405	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R405I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGAAAATTTCTTATATAGAT	0.383																																					p.R405I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214T	8						.						134.0	131.0	132.0					8																	94747425		1831	4091	5922	94816601	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1214G>T	8.37:g.94747425C>A	ENSP00000382239:p.Arg405Ile	Somatic		Capture	Illumina HiSeq	Phase_I	94816601	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882348	0.51908	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06608	3.28;3.28	5.36	5.36	0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.35566	0.0936	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.41088	-0.9528	10	0.87932	D	0	-17.8943	19.4485	0.94857	0.0:1.0:0.0:0.0	.	405	Q8IXT5	RB12B_HUMAN	I	405	ENSP00000382239:R405I;ENSP00000427729:R405I	ENSP00000382239:R405I	R	-	2	0	RBM12B	94816601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.944000	0.49034	2.672000	0.90937	0.591000	0.81541	AGA		0.383	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
CDH17	1015	broad.mit.edu	37	8	95158395	95158395	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95158395C>A	ENST00000027335.3	-	15	2052	c.1928G>T	c.(1927-1929)gGg>gTg	p.G643V	CDH17_ENST00000450165.2_Splice_Site_p.G643V|CDH17_ENST00000441892.2_Splice_Site_p.G429V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.G643V(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGAAGACCCCCCTAAGGAATT	0.433																																					p.G643V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1928T	8						.						76.0	71.0	73.0					8																	95158395		2203	4300	6503	95227571	SO:0001630	splice_region_variant	1015	exon15			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1928-1G>T	8.37:g.95158395C>A		Somatic		Capture	Illumina HiSeq	Phase_I	95227571	NM_001144663	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930671	0.52866	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.68181	-0.31;-0.31;-0.31	5.93	5.04	0.67666	Cadherin (4);Cadherin-like (1);	0.247105	0.28865	N	0.013896	D	0.86472	0.5941	H	0.96365	3.81	0.58432	D	0.999996	D;D	0.59767	0.986;0.985	D;P	0.68483	0.958;0.834	D	0.90200	0.4256	10	0.87932	D	0	.	13.3208	0.60432	0.0:0.6973:0.3026:0.0	.	429;643	E7EN24;Q12864	.;CAD17_HUMAN	V	643;429;643	ENSP00000027335:G643V;ENSP00000392811:G429V;ENSP00000401468:G643V	ENSP00000027335:G643V	G	-	2	0	CDH17	95227571	0.226000	0.23696	0.471000	0.27229	0.050000	0.14768	0.395000	0.20850	1.468000	0.48064	0.563000	0.77884	GGG		0.433	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	Missense_Mutation
GEM	2669	broad.mit.edu	37	8	95272623	95272623	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95272623G>T	ENST00000297596.2	-	2	373	c.109C>A	c.(109-111)Ccc>Acc	p.P37T	GEM_ENST00000396194.2_Missense_Mutation_p.P37T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	37					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.P37T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTGGTGGGGCTCTTTCTGG	0.602																																					p.P37T	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109A	8						.						77.0	74.0	75.0					8																	95272623		2203	4300	6503	95341799	SO:0001583	missense	2669	exon2				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.109C>A	8.37:g.95272623G>T	ENSP00000297596:p.Pro37Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95341799	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539613	0.45176	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.65549	-0.16;-0.16;1.54	5.48	5.48	0.80851	.	0.202600	0.44483	D	0.000451	T	0.52613	0.1745	L	0.38531	1.155	0.43480	D	0.9957	B	0.24823	0.112	B	0.22386	0.039	T	0.52343	-0.8588	10	0.54805	T	0.06	.	13.0993	0.59210	0.0825:0.0:0.9175:0.0	.	37	P55040	GEM_HUMAN	T	37	ENSP00000379497:P37T;ENSP00000297596:P37T;ENSP00000428258:P37T	ENSP00000297596:P37T	P	-	1	0	GEM	95341799	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	4.998000	0.63927	2.576000	0.86940	0.655000	0.94253	CCC		0.602	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
RAD54B	25788	broad.mit.edu	37	8	95392534	95392534	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95392534T>G	ENST00000336148.5	-	12	2210	c.2086A>C	c.(2086-2088)Atc>Ctc	p.I696L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	696	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.I696L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTTTGAGAGATTGGTGTTTGT	0.368								Direct reversal of damage;Homologous recombination																													p.I696L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2086C	8						.						145.0	125.0	132.0					8																	95392534		2203	4300	6503	95461710	SO:0001583	missense	25788	exon12			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2086A>C	8.37:g.95392534T>G	ENSP00000336606:p.Ile696Leu	Somatic		Capture	Illumina HiSeq	Phase_I	95461710	NM_012415	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232626	0.39498	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.74737	-0.87	5.83	-6.22	0.02058	Helicase, C-terminal (3);	0.485814	0.23824	N	0.044216	T	0.57080	0.2029	N	0.20574	0.59	0.28387	N	0.91925	B	0.16802	0.019	B	0.21151	0.033	T	0.17992	-1.0351	10	0.44086	T	0.13	-29.4694	18.3794	0.90445	0.0:0.7512:0.0:0.2488	.	696	Q9Y620	RA54B_HUMAN	L	696;368	ENSP00000336606:I696L	ENSP00000336606:I696L	I	-	1	0	RAD54B	95461710	0.065000	0.20965	0.475000	0.27278	0.951000	0.60555	0.118000	0.15605	-1.048000	0.03238	-0.256000	0.11100	ATC		0.368	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
KIAA1429	25962	broad.mit.edu	37	8	95565655	95565655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95565655C>A	ENST00000297591.5	-	1	96	c.21G>T	c.(19-21)atG>atT	p.M7I	RP11-267M23.4_ENST00000523011.1_lincRNA|KIAA1429_ENST00000421249.2_Missense_Mutation_p.M7I|KIAA1429_ENST00000437199.1_Missense_Mutation_p.M7I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	7					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M7I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATAACAGCTCCATCGCCGAGT	0.567																																					p.M7I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21T	8						.						70.0	81.0	78.0					8																	95565655		2203	4300	6503	95634831	SO:0001583	missense	25962	exon1			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.21G>T	8.37:g.95565655C>A	ENSP00000297591:p.Met7Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95634831	NM_183009	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727399	0.48833	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.45276	0.9;0.9;0.9	5.17	5.17	0.71159	.	0.319514	0.33272	N	0.005091	T	0.35335	0.0928	L	0.40543	1.245	0.42964	D	0.994413	B;B	0.24721	0.11;0.065	B;B	0.19946	0.027;0.027	T	0.17806	-1.0357	10	0.52906	T	0.07	-1.263	13.4546	0.61191	0.1574:0.8426:0.0:0.0	.	7;7	Q69YN4-4;Q69YN4	.;VIR_HUMAN	I	7	ENSP00000297591:M7I;ENSP00000395600:M7I;ENSP00000398390:M7I	ENSP00000297591:M7I	M	-	3	0	KIAA1429	95634831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.803000	0.38863	2.560000	0.86352	0.650000	0.86243	ATG		0.567	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
INTS8	55656	broad.mit.edu	37	8	95853794	95853794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95853794G>T	ENST00000523731.1	+	9	1226	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.E365*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	365					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.E365*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGTCCTAAGAGAACTCTTTAA	0.358																																					p.E365X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1093T	8						.						121.0	127.0	125.0					8																	95853794		2203	4300	6503	95922970	SO:0001587	stop_gained	55656	exon9			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1093G>T	8.37:g.95853794G>T	ENSP00000430338:p.Glu365*	Somatic		Capture	Illumina HiSeq	Phase_I	95922970	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.498594|5.498594	0.96355|0.96355	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.043862|0.043862	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.75635|.	0.3876|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81699|.	-0.0814|.	4|.	.|0.72032	.|D	.|0.01	-35.655|-35.655	16.2745|16.2745	0.82636|0.82636	0.0:0.1328:0.8672:0.0|0.0:0.1328:0.8672:0.0	.|.	.|.	.|.	.|.	D|X	186|365	.|.	.|ENSP00000343274:E365X	E|E	+|+	3|1	2|0	INTS8|INTS8	95922970|95922970	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.996000|0.996000	0.88848|0.88848	6.598000|6.598000	0.74122|0.74122	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.358	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
CCNE2	9134	broad.mit.edu	37	8	95905080	95905080	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:95905080G>T	ENST00000520509.1	-	5	535	c.283C>A	c.(283-285)Ctt>Att	p.L95I	CCNE2_ENST00000308108.4_Missense_Mutation_p.L95I|NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.L95I			O96020	CCNE2_HUMAN	cyclin E2	95					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.L95I(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATAAAAAGATTTTTAAAT	0.299																																					p.L95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283A	8						.						37.0	40.0	39.0					8																	95905080		2201	4293	6494	95974256	SO:0001583	missense	9134	exon5			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.283C>A	8.37:g.95905080G>T	ENSP00000429089:p.Leu95Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95974256	NM_057749	O95439	Missense_Mutation	SNP	ENST00000520509.1	37	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.891920	0.52014	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.32272	1.88;1.88;1.46	5.84	4.96	0.65561	.	0.119574	0.56097	D	0.000021	T	0.26268	0.0641	L	0.45352	1.415	0.54753	D	0.999989	B;P	0.42409	0.349;0.779	B;B	0.42282	0.119;0.382	T	0.05435	-1.0885	10	0.02654	T	1	.	14.8098	0.69985	0.069:0.0:0.931:0.0	.	95;95	Q8WUE3;O96020	.;CCNE2_HUMAN	I	95	ENSP00000429089:L95I;ENSP00000309181:L95I;ENSP00000379437:L95I	ENSP00000309181:L95I	L	-	1	0	CCNE2	95974256	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.646000	0.74348	1.467000	0.48044	0.561000	0.74099	CTT		0.299	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702	
MTERF3	51001	broad.mit.edu	37	8	97251798	97251798	+	Missense_Mutation	SNP	G	G	T	rs370527769		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:97251798G>T	ENST00000287025.3	-	8	1273	c.1175C>A	c.(1174-1176)tCt>tAt	p.S392Y	KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000522822.1_Missense_Mutation_p.S271Y|MTERFD1_ENST00000524341.1_Missense_Mutation_p.S148Y|MTERFD1_ENST00000523821.1_3'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		392					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.S392Y(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATCAGGAATAGATACTAGTTT	0.323																																					p.S392Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1175A	8						.	G	TYR/SER	0,4406		0,0,2203	77.0	80.0	79.0		1175	5.9	1.0	8		79	1,8593	1.2+/-3.3	0,1,4296	no	missense	MTERFD1	NM_015942.3	144	0,1,6499	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	392/418	97251798	1,12999	2203	4297	6500	97320974	SO:0001583	missense	51001	exon8																														ENST00000287025.3:c.1175C>A	8.37:g.97251798G>T	ENSP00000287025:p.Ser392Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	97320974	NM_015942	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131200	0.77549	0.0	1.16E-4	ENSG00000156469	ENST00000522822;ENST00000524341;ENST00000287025	T;T;T	0.50001	1.34;0.76;1.23	5.87	5.87	0.94306	.	0.051622	0.85682	D	0.000000	T	0.66886	0.2835	M	0.83012	2.62	0.58432	D	0.999991	D	0.63046	0.992	P	0.54629	0.757	T	0.68569	-0.5374	10	0.51188	T	0.08	-17.7934	18.7629	0.91860	0.0:0.0:1.0:0.0	.	392	Q96E29	MTER1_HUMAN	Y	271;148;392	ENSP00000430138:S271Y;ENSP00000429267:S148Y;ENSP00000287025:S392Y	ENSP00000287025:S392Y	S	-	2	0	MTERFD1	97320974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.261000	0.72509	2.941000	0.99782	0.655000	0.94253	TCT		0.323	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		
MTERF3	51001	broad.mit.edu	37	8	97269238	97269238	+	Nonsense_Mutation	SNP	G	G	A	rs145305126	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:97269238G>A	ENST00000287025.3	-	3	537	c.439C>T	c.(439-441)Cga>Tga	p.R147*	MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.R26*|MTERFD1_ENST00000524341.1_5'UTR|MTERFD1_ENST00000523821.1_Nonsense_Mutation_p.R147*	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		147					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.R147*(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACATAGTCTCGAAGTGTGAAT	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		18175	0.0		0.002	False		,,,				2504	0.0				p.R147X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C439T	8						.						134.0	126.0	129.0					8																	97269238		2203	4300	6503	97338414	SO:0001587	stop_gained	51001	exon3																														ENST00000287025.3:c.439C>T	8.37:g.97269238G>A	ENSP00000287025:p.Arg147*	Somatic		Capture	Illumina HiSeq	Phase_I	97338414	NM_015942	B3KMG6|G3V130|Q9Y301	Nonsense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316077	0.95655	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000287025	.	.	.	6.17	2.21	0.28008	.	0.196490	0.44688	D	0.000432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0167	5.7638	0.18215	0.0659:0.124:0.5671:0.243	.	.	.	.	X	147;26;147	.	ENSP00000287025:R147X	R	-	1	2	MTERFD1	97338414	0.905000	0.30787	0.869000	0.34112	0.138000	0.21146	1.803000	0.38863	0.422000	0.26005	-0.181000	0.13052	CGA		0.413	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		
MTERF3	51001	broad.mit.edu	37	8	97270605	97270605	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:97270605T>C	ENST00000287025.3	-	2	412	c.314A>G	c.(313-315)gAt>gGt	p.D105G	MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000524341.1_5'Flank|MTERFD1_ENST00000523821.1_Missense_Mutation_p.D105G	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		105					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.D105G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CAGCTCAGAATCAAAGCTGGA	0.413																																					p.D105G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A314G	8						.						47.0	46.0	47.0					8																	97270605		2202	4300	6502	97339781	SO:0001583	missense	51001	exon2																														ENST00000287025.3:c.314A>G	8.37:g.97270605T>C	ENSP00000287025:p.Asp105Gly	Somatic		Capture	Illumina HiSeq	Phase_I	97339781	NM_015942	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031399	0.54790	.	.	ENSG00000156469	ENST00000523821;ENST00000287025	T	0.34275	1.37	5.7	4.54	0.55810	.	0.660669	0.15892	N	0.239522	T	0.35595	0.0937	M	0.62723	1.935	0.19300	N	0.99998	B;B	0.14438	0.01;0.006	B;B	0.17722	0.019;0.019	T	0.31696	-0.9934	10	0.54805	T	0.06	-8.8493	8.3756	0.32440	0.0:0.0887:0.0:0.9113	.	105;105	E5RIK9;Q96E29	.;MTER1_HUMAN	G	105	ENSP00000287025:D105G	ENSP00000287025:D105G	D	-	2	0	MTERFD1	97339781	0.516000	0.26218	0.192000	0.23308	0.945000	0.59286	2.095000	0.41729	0.972000	0.38314	0.533000	0.62120	GAT		0.413	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		
PTDSS1	9791	broad.mit.edu	37	8	97311916	97311916	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:97311916T>C	ENST00000517309.1	+	6	926				PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000518776.1_Intron|PTDSS1_ENST00000455950.2_Intron	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTCTTGTGTTTCTCAGCTCTT	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						169.0	159.0	162.0					8																	97311916		2203	4300	6503	97381092	SO:0001627	intron_variant	9791	.			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.601-6T>C	8.37:g.97311916T>C		Somatic		Capture	Illumina HiSeq	Phase_I	97381092	.	E5RFC5|Q9BUQ5	Intron	SNP	ENST00000517309.1	37	CCDS6271.1																																																																																				0.423	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
SDC2	6383	broad.mit.edu	37	8	97620628	97620628	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:97620628C>T	ENST00000302190.4	+	4	1293	c.372C>T	c.(370-372)gcC>gcT	p.A124A	SDC2_ENST00000519914.1_Silent_p.A95A|SDC2_ENST00000518385.1_Silent_p.A88A|SDC2_ENST00000522911.1_Silent_p.A95A	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	124					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.A124A(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGGACCCAGCCGAAGAGGATA	0.453																																					p.A124A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372T	8						.						94.0	91.0	92.0					8																	97620628		2203	4300	6503	97689804	SO:0001819	synonymous_variant	6383	exon4			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.372C>T	8.37:g.97620628C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97689804	NM_002998	B3KQA3|Q6PIS6|Q9H6V1	Silent	SNP	ENST00000302190.4	37	CCDS6272.1																																																																																				0.453	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998	
MTDH	92140	broad.mit.edu	37	8	98703262	98703262	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:98703262T>C	ENST00000336273.3	+	6	1222	c.894T>C	c.(892-894)agT>agC	p.S298S	MTDH_ENST00000519934.1_Silent_p.S275S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	298					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.S298S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CACAGATCAGTGCAGGTGAGG	0.438																																					p.S298S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T894C	8						.						91.0	94.0	93.0					8																	98703262		2203	4300	6503	98772438	SO:0001819	synonymous_variant	92140	exon6			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.894T>C	8.37:g.98703262T>C		Somatic		Capture	Illumina HiSeq	Phase_I	98772438	NM_178812	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331714	0.24167	.	.	ENSG00000147649	ENST00000522313	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55029	-0.8204	4	.	.	.	-0.319	7.286	0.26340	0.0:0.0728:0.1465:0.7807	.	.	.	.	A	181	.	.	V	+	2	0	MTDH	98772438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	1.037000	0.40024	0.528000	0.53228	GTG		0.438	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
MTDH	92140	broad.mit.edu	37	8	98712003	98712003	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:98712003C>A	ENST00000336273.3	+	7	1398	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	357					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.S357Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGCCAGTTTCTCAGTCTACC	0.333																																					p.S357Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1070A	8						.						146.0	137.0	140.0					8																	98712003		2203	4300	6503	98781179	SO:0001583	missense	92140	exon7			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1070C>A	8.37:g.98712003C>A	ENSP00000338235:p.Ser357Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	98781179	NM_178812	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864496	0.71949	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.54279	0.58	5.19	5.19	0.71726	.	0.397227	0.27411	N	0.019494	T	0.69124	0.3076	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.70857	-0.4758	10	0.66056	D	0.02	-5.0351	17.2454	0.87026	0.0:1.0:0.0:0.0	.	357	Q86UE4	LYRIC_HUMAN	Y	357;27	ENSP00000338235:S357Y	ENSP00000338235:S357Y	S	+	2	0	MTDH	98781179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.103000	0.64578	2.581000	0.87130	0.561000	0.74099	TCT		0.333	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
HRSP12	10247	broad.mit.edu	37	8	99115125	99115125	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:99115125C>T	ENST00000254878.3	-	6	503	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	120					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)	p.R120Q(2)		large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AATTTCAATTCGGCTGCCCTG	0.368																																					p.R120Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G359A	8						.						129.0	124.0	125.0					8																	99115125		2203	4300	6503	99184301	SO:0001583	missense	10247	exon6			BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"""translational inhibitor p14.5"""	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.359G>A	8.37:g.99115125C>T	ENSP00000254878:p.Arg120Gln	Somatic		Capture	Illumina HiSeq	Phase_I	99184301	NM_005836	Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	37	CCDS6276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.57|11.57	1.679388|1.679388	0.29783|0.29783	.|.	.|.	ENSG00000132541|ENSG00000132541	ENST00000521560|ENST00000254878;ENST00000520989	.|.	.|.	.|.	5.36|5.36	3.53|3.53	0.40419|0.40419	.|Endoribonuclease L-PSP/chorismate mutase-like (2);YjgF-like protein, conserved site (1);	.|0.070231	.|0.64402	.|D	.|0.000016	T|T	0.31009|0.31009	0.0783|0.0783	L|L	0.45137|0.45137	1.4|1.4	0.18873|0.18873	N|N	0.999981|0.999981	.|B	.|0.33528	.|0.416	.|B	.|0.31101	.|0.124	T|T	0.15521|0.15521	-1.0434|-1.0434	5|9	.|0.41790	.|T	.|0.15	.|.	7.9431|7.9431	0.29969|0.29969	0.1593:0.758:0.0:0.0826|0.1593:0.758:0.0:0.0826	.|.	.|120	.|P52758	.|UK114_HUMAN	K|Q	110|120;97	.|.	.|ENSP00000254878:R120Q	E|R	-|-	1|2	0|0	HRSP12|HRSP12	99184301|99184301	0.759000|0.759000	0.28416|0.28416	0.008000|0.008000	0.14137|0.14137	0.271000|0.271000	0.26615|0.26615	2.045000|2.045000	0.41250|0.41250	0.720000|0.720000	0.32209|0.32209	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.368	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836	
POP1	10940	broad.mit.edu	37	8	99146893	99146893	+	Intron	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:99146893A>T	ENST00000401707.2	+	7	1092				POP1_ENST00000349693.3_Intron	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.?(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AACAGGTATAATCCTTCAGGT	0.448																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						64.0	66.0	65.0					8																	99146893		2203	4300	6503	99216069	SO:0001627	intron_variant	10940	.			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1011+6A>T	8.37:g.99146893A>T		Somatic		Capture	Illumina HiSeq	Phase_I	99216069	.	A8K5W9|Q15037	Intron	SNP	ENST00000401707.2	37	CCDS6277.1																																																																																				0.448	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
VPS13B	157680	broad.mit.edu	37	8	100148987	100148987	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:100148987G>A	ENST00000358544.2	+	12	1762				VPS13B_ENST00000355155.1_Intron|VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000357162.2_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)			p.?(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGGTATTGGCTTCTTTCCT	0.408																																					.	Colon(161;2205 2542 7338 31318)											.	.	2	Unknown(2)	large_intestine(2)	.	8						.						207.0	197.0	201.0					8																	100148987		2203	4300	6503	100218163	SO:0001627	intron_variant	157680	.			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1651+7G>A	8.37:g.100148987G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100218163	.	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Intron	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
GRHL2	79977	broad.mit.edu	37	8	102555468	102555468	+	Splice_Site	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:102555468G>T	ENST00000251808.3	+	2	358		c.e2-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGTTTTTACAGTAATAAAAGA	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						98.0	100.0	99.0					8																	102555468		2203	4300	6503	102624644	SO:0001630	splice_region_variant	79977	.			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.21-1G>T	8.37:g.102555468G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102624644	.	A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	37	CCDS34931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137562|3.137562	0.56936|0.56936	.|.	.|.	ENSG00000083307|ENSG00000083307	ENST00000251808|ENST00000395928	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74329	.|0.3702	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74494	.|-0.3647	.|5	.|0.52906	.|T	.|0.07	.|.	15.1547|15.1547	0.72730|0.72730	0.0:0.0:0.8588:0.1412|0.0:0.0:0.8588:0.1412	.|.	.|.	.|.	.|.	.|I	-1|7	.|.	.|ENSP00000379261:S7I	.|S	+|+	.|2	.|0	GRHL2|GRHL2	102624644|102624644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	2.947000|2.947000	0.49058|0.49058	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	.|AGT		0.373	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Intron
UBR5	51366	broad.mit.edu	37	8	103307202	103307202	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:103307202G>A	ENST00000520539.1	-	32	4795				UBR5_ENST00000521922.1_Intron|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Intron	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACATTCAAAGAACTTACCAA	0.353																																					.	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Unknown(1)	large_intestine(1)	.	8						.						53.0	49.0	50.0					8																	103307202		2203	4300	6503	103376378	SO:0001627	intron_variant	51366	.			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4188+7C>T	8.37:g.103307202G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103376378	.	B2RP24|J3KMW7|O94970|Q9NPL3	Intron	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																				0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
RIMS2	9699	broad.mit.edu	37	8	104664919	104664919	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:104664919A>C	ENST00000406091.3	+	2	176					NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.N89H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAACAACAAAATGAAAAGGA	0.338										HNSCC(12;0.0054)																											.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	8						.						28.0	28.0	28.0					8																	104664919		876	1991	2867	104734095	SO:0001627	intron_variant	9699	.			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.177-44395A>C	8.37:g.104664919A>C		Somatic		Capture	Illumina HiSeq	Phase_I	104734095	.	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Intron	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450226	0.84101	.	.	ENSG00000176406	ENST00000329869;ENST00000402998	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	T	0.73590	0.3606	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74191	-0.3745	5	0.46703	T	0.11	.	15.9279	0.79635	1.0:0.0:0.0:0.0	.	.	.	.	H	84	.	ENSP00000332184:N84H	N	+	1	0	RIMS2	104734095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.597000	0.90847	2.165000	0.68154	0.482000	0.46254	AAT		0.338	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	
PKHD1L1	93035	broad.mit.edu	37	8	110466943	110466943	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110466943C>A	ENST00000378402.5	+	45	6848					NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.?(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGTGACATCTTTTGCAGAT	0.408										HNSCC(38;0.096)																											.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						143.0	136.0	138.0					8																	110466943		1949	4153	6102	110536119	SO:0001627	intron_variant	93035	.			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6745-9C>A	8.37:g.110466943C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110536119	.	Q567P2|Q9UF27	Intron	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
EBAG9	9166	broad.mit.edu	37	8	110569157	110569157	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:110569157C>A	ENST00000337573.5	+	5	621				EBAG9_ENST00000529502.1_Intron|EBAG9_ENST00000531677.1_Intron|EBAG9_ENST00000395785.2_Intron	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9						regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCAATTAATCTTTCAGATTG	0.299																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						49.0	47.0	48.0					8																	110569157		2202	4296	6498	110638333	SO:0001627	intron_variant	9166	.			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.322-7C>A	8.37:g.110569157C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110638333	.	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Intron	SNP	ENST00000337573.5	37	CCDS6313.1																																																																																				0.299	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215	
FER1L6	654463	broad.mit.edu	37	8	125015594	125015594	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:125015594G>T	ENST00000522917.1	+	13	1906				FER1L6_ENST00000399018.1_Intron|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)		p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGGTAGGAGACATAGCCTG	0.483																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						33.0	32.0	32.0					8																	125015594		1901	4124	6025	125084775	SO:0001627	intron_variant	654463	.			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1700+7G>T	8.37:g.125015594G>T		Somatic		Capture	Illumina HiSeq	Phase_I	125084775	.		Intron	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
GSDMC	56169	broad.mit.edu	37	8	130763787	130763787	+	Splice_Site	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:130763787C>A	ENST00000276708.4	-	10	1825		c.e10+1			NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C							cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.?(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TAAATACTTACTTTGCCAGAA	0.468																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						94.0	93.0	94.0					8																	130763787		2203	4300	6503	130832969	SO:0001630	splice_region_variant	56169	.			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.943+1G>T	8.37:g.130763787C>A		Somatic		Capture	Illumina HiSeq	Phase_I	130832969	.	Q5XKF3|Q6P494	Splice_Site	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250102	0.22880	.	.	ENSG00000147697	ENST00000276708	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5996	0.50995	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSDMC	130832969	0.001000	0.12720	0.440000	0.26846	0.003000	0.03518	0.134000	0.15932	2.457000	0.83068	0.591000	0.81541	.		0.468	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		Intron
ADCY8	114	broad.mit.edu	37	8	131797732	131797732	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:131797732G>A	ENST00000286355.5	-	16	5153				ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGAAAGAGAGCCAGGCAATG	0.488										HNSCC(32;0.087)																											.												.	.	0			.	8						.						65.0	61.0	63.0					8																	131797732		2203	4300	6503	131866914	SO:0001627	intron_variant	114	.			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3061-11C>T	8.37:g.131797732G>A		Somatic		Capture	Illumina HiSeq	Phase_I	131866914	.		Intron	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.488	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
FAM135B	51059	broad.mit.edu	37	8	139323168	139323168	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:139323168G>T	ENST00000395297.1	-	3	248					NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B									p.?(4)		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)			TAATACCTAAGAAAAGAGAAG	0.463										HNSCC(54;0.14)																											.												.	.	4	Unknown(4)	large_intestine(2)|lung(2)	.	8						.						68.0	64.0	65.0					8																	139323168		1907	4124	6031	139392350	SO:0001627	intron_variant	51059	.			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.78-5C>A	8.37:g.139323168G>T		Somatic		Capture	Illumina HiSeq	Phase_I	139392350	.	B5MDB3|O95879|Q2WGJ7|Q3KP46	Intron	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
ZNF623	9831	broad.mit.edu	37	8	144732042	144732042	+	5'UTR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:144732042G>T	ENST00000501748.2	+	0	89				ZNF623_ENST00000526926.1_Intron|ZNF623_ENST00000458270.2_Intron	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623						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(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAAGGGGAAAGATGATTTTGT	0.438																																					.												.	.	0			.	8						.						103.0	83.0	90.0					8																	144732042		2203	4300	6503	144803185	SO:0001623	5_prime_UTR_variant	9831	.			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.-1G>T	8.37:g.144732042G>T		Somatic		Capture	Illumina HiSeq	Phase_I	144803185	.	A4FU80|B4DGP3|E7ENV5	5'UTR	SNP	ENST00000501748.2	37	CCDS34957.1																																																																																				0.438	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
ZNF7	7553	broad.mit.edu	37	8	146067553	146067553	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr8:146067553G>T	ENST00000528372.1	+	5	1301	c.1061G>T	c.(1060-1062)aGa>aTa	p.R354I	ZNF7_ENST00000544249.1_Missense_Mutation_p.R258I|ZNF7_ENST00000446747.2_Missense_Mutation_p.R365I|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.R354I|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	354					multicellular organismal development (GO:0007275)|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)	p.R354I(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGACACCAGAGAACTCACACT	0.572																																					p.R354I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1061T	8						.						60.0	56.0	58.0					8																	146067553		2203	4300	6503	146038357	SO:0001583	missense	7553	exon5			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1061G>T	8.37:g.146067553G>T	ENSP00000432724:p.Arg354Ile	Somatic		Capture	Illumina HiSeq	Phase_I	146038357	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388160	0.61956	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.89	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000086	T	0.40119	0.1104	L	0.46885	1.475	0.29249	N	0.872124	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.23404	-1.0189	9	.	.	.	-30.2013	12.3339	0.55056	0.0838:0.0:0.9162:0.0	.	365;354	B4DT08;P17097	.;ZNF7_HUMAN	I	354;365;258;354	ENSP00000320627:R354I;ENSP00000393260:R365I;ENSP00000439424:R258I;ENSP00000432724:R354I	.	R	+	2	0	ZNF7	146038357	0.383000	0.25156	0.782000	0.31804	0.988000	0.76386	3.349000	0.52217	1.294000	0.44707	0.555000	0.69702	AGA		0.572	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
INSL6	11172	broad.mit.edu	37	9	5163941	5163942	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5163941_5163942insT	ENST00000381641.3	-	2	678_679	c.613_614insA	c.(613-615)agafs	p.R205fs	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	205					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R205fs*7(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGTGATGATCTTTTTTCCTTT	0.267																																					p.R205fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.614_615insA	9						.																																			5153942	SO:0001589	frameshift_variant	11172	exon2			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.614dupA	9.37:g.5163947_5163947dupT	ENSP00000371054:p.Arg205fs	Somatic		Capture	Illumina HiSeq	Phase_I	5153941	NM_007179	A0AVS0|Q9NS16	Frame_Shift_Ins	INS	ENST00000381641.3	37	CCDS6458.1																																																																																				0.267	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
ANKS6	203286	broad.mit.edu	37	9	101552433	101552433	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101552433T>C	ENST00000353234.4	-	2	862	c.815A>G	c.(814-816)gAc>gGc	p.D272G	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.D272G|ANKS6_ENST00000540940.1_Missense_Mutation_p.D77G|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	272						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D272G(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTCTACAAGGTCCCTGTGCTT	0.612																																					p.D272G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A815G	9						.						98.0	106.0	103.0					9																	101552433		2175	4279	6454	100592254	SO:0001583	missense	203286	exon2			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.815A>G	9.37:g.101552433T>C	ENSP00000297837:p.Asp272Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100592254	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556129	0.86231	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.67345	0.52;0.52;-0.26	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.044832	0.85682	D	0.000000	T	0.65873	0.2733	L	0.34521	1.04	0.58432	D	0.999999	D	0.56521	0.976	P	0.51742	0.678	T	0.70313	-0.4906	10	0.87932	D	0	-32.0983	13.5146	0.61533	0.0:0.0:0.0:1.0	.	272	Q68DC2	ANKS6_HUMAN	G	272;272;77	ENSP00000364158:D272G;ENSP00000297837:D272G;ENSP00000442189:D77G	ENSP00000297837:D272G	D	-	2	0	ANKS6	100592254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.893000	0.63199	2.079000	0.62486	0.459000	0.35465	GAC		0.612	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
COL15A1	1306	broad.mit.edu	37	9	101749577	101749577	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101749577G>A	ENST00000375001.3	+	4	1073	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	217	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G217D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCCCAGGGCTCCCTCCAG	0.577																																					p.G217D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650A	9						.						183.0	168.0	173.0					9																	101749577		2203	4300	6503	100789398	SO:0001630	splice_region_variant	1306	exon4			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.649-1G>A	9.37:g.101749577G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100789398	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828870	0.71258	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.16457	2.34	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.86420	2.815	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.54118	-0.8341	10	0.87932	D	0	-11.8864	14.3894	0.66968	0.0:0.0:1.0:0.0	.	217	P39059	COFA1_HUMAN	D	217;187	ENSP00000364140:G217D	ENSP00000364140:G217D	G	+	2	0	COL15A1	100789398	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.435000	0.80391	2.524000	0.85096	0.655000	0.94253	GGC		0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Missense_Mutation
COL15A1	1306	broad.mit.edu	37	9	101798611	101798611	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101798611A>G	ENST00000375001.3	+	21	2765	c.2342A>G	c.(2341-2343)gAt>gGt	p.D781G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	781	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.D781G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGGATGGATGGAGCCAGT	0.527																																					p.D781G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2342G	9						.						83.0	91.0	88.0					9																	101798611		2203	4300	6503	100838432	SO:0001583	missense	1306	exon21			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2342A>G	9.37:g.101798611A>G	ENSP00000364140:p.Asp781Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100838432	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712424	0.48517	.	.	ENSG00000204291	ENST00000375001	D	0.90563	-2.69	5.39	5.39	0.77823	.	0.051589	0.85682	D	0.000000	D	0.92541	0.7631	L	0.51422	1.61	0.38459	D	0.947178	D	0.89917	1.0	D	0.80764	0.994	D	0.91085	0.4902	10	0.22109	T	0.4	-23.5069	12.0773	0.53652	1.0:0.0:0.0:0.0	.	781	P39059	COFA1_HUMAN	G	781	ENSP00000364140:D781G	ENSP00000364140:D781G	D	+	2	0	COL15A1	100838432	1.000000	0.71417	0.989000	0.46669	0.808000	0.45660	4.588000	0.60999	2.162000	0.67917	0.533000	0.62120	GAT		0.527	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101800981	101800981	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101800981A>C	ENST00000375001.3	+	22	2864	c.2441A>C	c.(2440-2442)aAt>aCt	p.N814T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	814	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.N814T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGATTCATGAATTTCTCGGAC	0.488																																					p.N814T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2441C	9						.						241.0	216.0	224.0					9																	101800981		2203	4300	6503	100840802	SO:0001583	missense	1306	exon22			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2441A>C	9.37:g.101800981A>C	ENSP00000364140:p.Asn814Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100840802	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702163	0.48307	.	.	ENSG00000204291	ENST00000375001	D	0.89939	-2.59	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	D	0.92071	0.7487	L	0.58101	1.795	0.40412	D	0.979757	D	0.63880	0.993	D	0.74674	0.984	D	0.92182	0.5752	10	0.52906	T	0.07	-6.312	10.8869	0.46972	1.0:0.0:0.0:0.0	.	814	P39059	COFA1_HUMAN	T	814	ENSP00000364140:N814T	ENSP00000364140:N814T	N	+	2	0	COL15A1	100840802	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.830000	0.55768	2.128000	0.65567	0.533000	0.62120	AAT		0.488	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
TGFBR1	7046	broad.mit.edu	37	9	101900171	101900171	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101900171C>T	ENST00000374994.4	+	4	722	c.605C>T	c.(604-606)gCg>gTg	p.A202V	TGFBR1_ENST00000374990.2_Missense_Mutation_p.A125V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.A206V|TGFBR1_ENST00000550253.1_Missense_Mutation_p.A133V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	202	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.A202V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AGAACAATTGCGAGAACTATT	0.373																																					p.A125V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C374T	9						.						132.0	130.0	131.0					9																	101900171		2203	4300	6503	100939992	SO:0001583	missense	7046	exon3				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.605C>T	9.37:g.101900171C>T	ENSP00000364133:p.Ala202Val	Somatic		Capture	Illumina HiSeq	Phase_I	100939992	NM_001130916	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524833	0.96431	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	5.59	5.59	0.84812	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98808	1.0742	9	.	.	.	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	125;202	P36897-3;P36897	.;TGFR1_HUMAN	V	202;202;125;206;56;133	ENSP00000364133:A202V;ENSP00000364129:A125V;ENSP00000447297:A206V;ENSP00000449028:A56V;ENSP00000450052:A133V	.	A	+	2	0	TGFBR1	100939992	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	7.773000	0.85462	2.642000	0.89623	0.650000	0.86243	GCG		0.373	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
TGFBR1	7046	broad.mit.edu	37	9	101900288	101900288	+	Missense_Mutation	SNP	C	C	T	rs111854391		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101900288C>T	ENST00000374994.4	+	4	839	c.722C>T	c.(721-723)tCg>tTg	p.S241L	TGFBR1_ENST00000374990.2_Missense_Mutation_p.S164L|TGFBR1_ENST00000552516.1_Missense_Mutation_p.S245L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.S172L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> L (in LDS1). {ECO:0000269|PubMed:16596670, ECO:0000269|PubMed:16791849}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S241L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGAACGTTCGTGGTTCCGT	0.418																																					p.S164L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C491T	9	GRCh37	CM061221	TGFBR1	M	rs111854391	.						173.0	168.0	170.0					9																	101900288		2203	4300	6503	100940109	SO:0001583	missense	7046	exon3				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.722C>T	9.37:g.101900288C>T	ENSP00000364133:p.Ser241Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100940109	NM_001130916	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333411	0.95758	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.83852	2.665	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84339	0.0526	8	.	.	.	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	164;241	P36897-3;P36897	.;TGFR1_HUMAN	L	241;241;164;245;95;172	ENSP00000364133:S241L;ENSP00000364129:S164L;ENSP00000447297:S245L;ENSP00000449028:S95L;ENSP00000450052:S172L	.	S	+	2	0	TGFBR1	100940109	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.773000	0.85462	2.642000	0.89623	0.650000	0.86243	TCG		0.418	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
ALG2	85365	broad.mit.edu	37	9	101980562	101980562	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101980562G>T	ENST00000476832.1	-	2	966	c.905C>A	c.(904-906)tCt>tAt	p.S302Y	ALG2_ENST00000319033.6_Missense_Mutation_p.S209Y	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.S302Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GTCTGAGAAAGACCTCAAGAA	0.478																																					p.S302Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C905A	9						.						103.0	82.0	89.0					9																	101980562		2203	4300	6503	101020383	SO:0001583	missense	85365	exon2			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.905C>A	9.37:g.101980562G>T	ENSP00000417764:p.Ser302Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	101020383	NM_033087	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592530	0.86953	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.78246	-1.16;-1.16	5.78	5.78	0.91487	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88297	0.2947	10	0.87932	D	0	-15.8012	20.3668	0.98882	0.0:0.0:1.0:0.0	.	209;302	Q9H553-2;Q9H553	.;ALG2_HUMAN	Y	302;209	ENSP00000417764:S302Y;ENSP00000326609:S209Y	ENSP00000432675:S209Y	S	-	2	0	ALG2	101020383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.894000	0.99253	0.655000	0.94253	TCT		0.478	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087	
TMEFF1	8577	broad.mit.edu	37	9	103271376	103271376	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:103271376G>T	ENST00000374879.4	+	3	828	c.396G>T	c.(394-396)caG>caT	p.Q132H	MSANTD3-TMEFF1_ENST00000502978.1_Nonsense_Mutation_p.E96*|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Q93H	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	132	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q132H(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GTAAGCACCAGAAAGAGATAA	0.368																																					p.Q132H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G396T	9						.						102.0	102.0	102.0					9																	103271376		2203	4300	6503	102311197	SO:0001583	missense	8577	exon3			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.396G>T	9.37:g.103271376G>T	ENSP00000364013:p.Gln132His	Somatic		Capture	Illumina HiSeq	Phase_I	102311197	NM_003692	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.65|13.65	2.301064|2.301064	0.40694|0.40694	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.04917	.|3.53;3.53	5.58|5.58	4.68|4.68	0.58851|0.58851	.|Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.13030	.|0.0316	M|M	0.68952|0.68952	2.095|2.095	0.53688|0.53688	D|D	0.999971|0.999971	.|B;B	.|0.32573	.|0.376;0.01	.|B;B	.|0.44163	.|0.443;0.008	.|T	.|0.02031	.|-1.1226	.|10	.|0.48119	.|T	.|0.1	-31.355|-31.355	8.3699|8.3699	0.32408|0.32408	0.1756:0.0:0.8244:0.0|0.1756:0.0:0.8244:0.0	.|.	.|132;93	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	X|H	96|93;132	.|ENSP00000334447:Q93H;ENSP00000364013:Q132H	.|ENSP00000334447:Q93H	E|Q	+|+	1|3	0|2	C9orf30-TMEFF1|TMEFF1	102311197|102311197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.815000|1.815000	0.38981|0.38981	1.351000|1.351000	0.45789|0.45789	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.368	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	
MURC	347273	broad.mit.edu	37	9	103340510	103340510	+	Missense_Mutation	SNP	G	G	A	rs369545613		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:103340510G>A	ENST00000307584.5	+	1	150	c.85G>A	c.(85-87)Gct>Act	p.A29T	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	29					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.A29T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGACCAAGACGCTGCTCTTAC	0.448																																					p.A29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	9						.						127.0	118.0	121.0					9																	103340510		2203	4300	6503	102380331	SO:0001583	missense	347273	exon1			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.85G>A	9.37:g.103340510G>A	ENSP00000418668:p.Ala29Thr	Somatic		Capture	Illumina HiSeq	Phase_I	102380331	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624434	0.46840	.	.	ENSG00000170681	ENST00000307584	T	0.59224	0.28	5.39	4.5	0.54988	.	0.118493	0.56097	D	0.000033	T	0.50051	0.1593	L	0.47716	1.5	0.30308	N	0.788803	B	0.24651	0.108	B	0.22386	0.039	T	0.54125	-0.8340	10	0.49607	T	0.09	-9.8875	12.0947	0.53748	0.0837:0.0:0.9163:0.0	.	29	Q5BKX8	MURC_HUMAN	T	29	ENSP00000418668:A29T	ENSP00000418668:A29T	A	+	1	0	MURC	102380331	0.978000	0.34361	0.257000	0.24404	0.991000	0.79684	3.409000	0.52657	1.279000	0.44446	0.655000	0.94253	GCT		0.448	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
ALDOB	229	broad.mit.edu	37	9	104192139	104192139	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:104192139G>A	ENST00000374855.4	-	3	346	c.222C>T	c.(220-222)atC>atT	p.I74I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	74			I -> T (in HFI; affects proper folding). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.I74I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCACACCCCCGATGCTCTGGT	0.532																																					p.I74I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C222T	9						.						171.0	159.0	163.0					9																	104192139		2203	4300	6503	103231960	SO:0001819	synonymous_variant	229	exon3			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.222C>T	9.37:g.104192139G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103231960	NM_000035	Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	CCDS6756.1																																																																																				0.532	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		
GRIN3A	116443	broad.mit.edu	37	9	104335720	104335720	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:104335720G>T	ENST00000361820.3	-	9	3684	c.3084C>A	c.(3082-3084)atC>atA	p.I1028I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1028					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.I1028I(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CATCACTAAAGATGTATTTCC	0.502																																					p.I1028I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3084A	9						.						154.0	145.0	148.0					9																	104335720		2203	4300	6503	103375541	SO:0001819	synonymous_variant	116443	exon9				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3084C>A	9.37:g.104335720G>T		Somatic		Capture	Illumina HiSeq	Phase_I	103375541	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.502	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
CYLC2	1539	broad.mit.edu	37	9	105767611	105767611	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:105767611A>C	ENST00000374798.3	+	5	768	c.698A>C	c.(697-699)gAa>gCa	p.E233A	CYLC2_ENST00000487798.1_Missense_Mutation_p.E233A	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	233	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.E233A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TCAGCCATAGAATTACAAGCT	0.388																																					p.E233A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698C	9						.						90.0	86.0	87.0					9																	105767611		2203	4300	6503	104807432	SO:0001583	missense	1539	exon5			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.698A>C	9.37:g.105767611A>C	ENSP00000420256:p.Glu233Ala	Somatic		Capture	Illumina HiSeq	Phase_I	104807432	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	9.668	1.146039	0.21288	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15718	2.4;2.4	4.19	1.7	0.24286	.	1.228590	0.05862	N	0.623124	T	0.19287	0.0463	M	0.69823	2.125	0.09310	N	1	P	0.38677	0.642	B	0.37692	0.256	T	0.26815	-1.0092	10	0.23891	T	0.37	-11.3005	4.0453	0.09770	0.5733:0.2142:0.2125:0.0	.	233	Q14093	CYLC2_HUMAN	A	233	ENSP00000420256:E233A;ENSP00000417674:E233A	ENSP00000420256:E233A	E	+	2	0	CYLC2	104807432	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.730000	0.26043	0.249000	0.21456	0.477000	0.44152	GAA		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
OR13C4	138804	broad.mit.edu	37	9	107289333	107289333	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:107289333G>T	ENST00000277216.3	-	1	157	c.158C>A	c.(157-159)tCt>tAt	p.S53Y		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53Y(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GTGAAGACGAGAATCCAAGAT	0.428																																					p.S53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158A	9						.						151.0	127.0	135.0					9																	107289333		2203	4300	6503	106329154	SO:0001583	missense	138804	exon1				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.158C>A	9.37:g.107289333G>T	ENSP00000277216:p.Ser53Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	106329154	NM_001001919	Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261749	0.10239	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00441	7.41	4.45	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.472295	0.17812	N	0.161162	T	0.00524	0.0017	M	0.85099	2.735	0.09310	N	1	B	0.19583	0.037	B	0.24269	0.052	T	0.34850	-0.9812	10	0.51188	T	0.08	.	7.7398	0.28835	0.0:0.1804:0.633:0.1866	.	53	Q8NGS5	O13C4_HUMAN	Y	53;82	ENSP00000277216:S53Y	ENSP00000277216:S53Y	S	-	2	0	OR13C4	106329154	0.000000	0.05858	0.805000	0.32314	0.350000	0.29205	-0.567000	0.05916	1.195000	0.43115	0.591000	0.81541	TCT		0.428	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1		
OR13C2	392376	broad.mit.edu	37	9	107367156	107367156	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:107367156G>T	ENST00000542196.1	-	1	795	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGTCCCATAGAATATTATGA	0.418																																					p.F251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C753A	9						.						108.0	100.0	103.0					9																	107367156		2201	4300	6501	106406977	SO:0001583	missense	392376	exon1				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.753C>A	9.37:g.107367156G>T	ENSP00000438815:p.Phe251Leu	Somatic		Capture	Illumina HiSeq	Phase_I	106406977	NM_001004481	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829801	0.50845	.	.	ENSG00000257019	ENST00000542196	T	0.00285	8.3	3.41	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37809	U	0.001935	T	0.00580	0.0019	M	0.83852	2.665	0.24902	N	0.99209	D	0.89917	1.0	D	0.74674	0.984	T	0.33548	-0.9864	10	0.87932	D	0	.	8.6579	0.34075	0.1218:0.0:0.8782:0.0	.	251	Q8NGS9	O13C2_HUMAN	L	251	ENSP00000438815:F251L	ENSP00000438815:F251L	F	-	3	2	OR13C2	106406977	0.995000	0.38212	0.995000	0.50966	0.688000	0.40055	0.335000	0.19806	1.741000	0.51731	0.313000	0.20887	TTC		0.418	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
SLC44A1	23446	broad.mit.edu	37	9	108110697	108110697	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:108110697T>G	ENST00000374720.3	+	5	712	c.465T>G	c.(463-465)tcT>tcG	p.S155S	SLC44A1_ENST00000374724.1_Silent_p.S155S|SLC44A1_ENST00000374723.1_Silent_p.S155S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	155					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.S155S(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTCCAAAATCTTCTGTTCTCT	0.363																																					p.S155S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T465G	9						.						121.0	118.0	119.0					9																	108110697		2203	4300	6503	107150518	SO:0001819	synonymous_variant	23446	exon5			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.465T>G	9.37:g.108110697T>G		Somatic		Capture	Illumina HiSeq	Phase_I	107150518	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	CCDS6763.1																																																																																				0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
FKTN	2218	broad.mit.edu	37	9	108397334	108397334	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:108397334A>G	ENST00000223528.2	+	10	1299	c.1175A>G	c.(1174-1176)tAc>tGc	p.Y392C	FKTN_ENST00000448551.2_Missense_Mutation_p.Y392C|FKTN_ENST00000540160.1_Missense_Mutation_p.I261M|FKTN_ENST00000602661.1_Missense_Mutation_p.Y392C|FKTN_ENST00000357998.5_Missense_Mutation_p.Y392C	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	392					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.Y392C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TGCTGCAGATACCTGTTTCCG	0.458																																					p.Y392C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1175G	9						.						156.0	140.0	146.0					9																	108397334		2203	4300	6503	107437155	SO:0001583	missense	2218	exon10				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1175A>G	9.37:g.108397334A>G	ENSP00000223528:p.Tyr392Cys	Somatic		Capture	Illumina HiSeq	Phase_I	107437155	NM_006731	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	13.83|13.83|13.83	2.355134|2.355134|2.355134	0.41700|0.41700|0.41700	.|.|.	.|.|.	ENSG00000106692|ENSG00000106692|ENSG00000106692	ENST00000540160|ENST00000457847|ENST00000223528;ENST00000357998	D|.|D;D	0.81821|.|0.94376	-1.54|.|-3.19;-3.41	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.96842|0.96842|0.96842	0.8969|0.8969|0.8969	M|M|M	0.82323|0.82323|0.82323	2.585|2.585|2.585	0.33113|0.33113|0.33113	D|D|D	0.540729|0.540729|0.540729	B|.|D;D	0.30146|.|0.89917	0.27|.|1.0;1.0	B|.|D;D	0.37692|.|0.91635	0.256|.|0.998;0.999	D|D|D	0.99930|0.99930|0.99930	1.1316|1.1316|1.1316	9|5|10	0.41790|.|0.87932	T|.|D	0.15|.|0	-8.0042|-8.0042|-8.0042	16.0034|16.0034|16.0034	0.80327|0.80327|0.80327	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	261|.|392;392	B4E2W4|.|B4DUX9;O75072	.|.|.;FKTN_HUMAN	M|A|C	261|89|392	ENSP00000439423:I261M|.|ENSP00000223528:Y392C;ENSP00000350687:Y392C	ENSP00000439423:I261M|.|ENSP00000223528:Y392C	I|T|Y	+|+|+	3|1|2	3|0|0	FKTN|FKTN|FKTN	107437155|107437155|107437155	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.296000|0.296000|0.296000	0.27459|0.27459|0.27459	8.901000|8.901000|8.901000	0.92560|0.92560|0.92560	2.371000|2.371000|2.371000	0.80710|0.80710|0.80710	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|ACC|TAC		0.458	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731	
TAL2	6887	broad.mit.edu	37	9	108425067	108425067	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:108425067A>T	ENST00000334077.3	+	1	330	c.290A>T	c.(289-291)cAg>cTg	p.Q97L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	97					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)	p.Q97L(1)									GAGAACTACCAGGTTCCTTCA	0.577			T	TRB@	T-ALL																																p.Q97L			Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A290T	9						.						41.0	38.0	39.0					9																	108425067		2203	4300	6503	107464888	SO:0001583	missense	6887	exon1				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.290A>T	9.37:g.108425067A>T	ENSP00000334547:p.Gln97Leu	Somatic		Capture	Illumina HiSeq	Phase_I	107464888	NM_005421	A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	CCDS6767.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459541	0.43736	.	.	ENSG00000186051	ENST00000334077	D	0.96334	-3.98	5.36	-3.74	0.04385	.	0.655189	0.16274	N	0.221660	D	0.89153	0.6634	L	0.36672	1.1	0.09310	N	0.999996	B	0.12013	0.005	B	0.09377	0.004	T	0.77789	-0.2456	10	0.26408	T	0.33	-1.0619	1.8256	0.03120	0.2834:0.251:0.3418:0.1238	.	97	Q16559	TAL2_HUMAN	L	97	ENSP00000334547:Q97L	ENSP00000334547:Q97L	Q	+	2	0	TAL2	107464888	0.000000	0.05858	0.053000	0.19242	0.316000	0.28119	0.399000	0.20916	-0.176000	0.10707	-0.274000	0.10170	CAG		0.577	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421	
ZNF462	58499	broad.mit.edu	37	9	109690770	109690770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:109690770G>A	ENST00000277225.5	+	3	4866	c.4577G>A	c.(4576-4578)cGc>cAc	p.R1526H	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1526H|ZNF462_ENST00000441147.2_Missense_Mutation_p.R371H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1526					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1526H(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCAACACCCGCATCCACGGC	0.552																																					p.R1526H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4577A	9						.						100.0	76.0	84.0					9																	109690770		2203	4300	6503	108730591	SO:0001583	missense	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4577G>A	9.37:g.109690770G>A	ENSP00000277225:p.Arg1526His	Somatic		Capture	Illumina HiSeq	Phase_I	108730591	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313823	0.81358	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06371	3.31;3.68;3.91;3.93	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.08006	-1.0743	10	0.36615	T	0.2	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1526;1526	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	1526;1526;409;371	ENSP00000277225:R1526H;ENSP00000414570:R1526H;ENSP00000363818:R409H;ENSP00000397306:R371H	ENSP00000277225:R1526H	R	+	2	0	ZNF462	108730591	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	CGC		0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
RAD23B	5887	broad.mit.edu	37	9	110081036	110081036	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:110081036C>T	ENST00000358015.3	+	6	908	c.557C>T	c.(556-558)aCg>aTg	p.T186M	RAD23B_ENST00000416373.2_Missense_Mutation_p.T114M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	186					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)	p.T186M(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTTAGTGACGGGTCAGTCT	0.398								Direct reversal of damage;Nucleotide excision repair (NER)																													p.T186M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	9						.						125.0	123.0	123.0					9																	110081036		2203	4300	6503	109120857	SO:0001583	missense	5887	exon6				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.557C>T	9.37:g.110081036C>T	ENSP00000350708:p.Thr186Met	Somatic		Capture	Illumina HiSeq	Phase_I	109120857	NM_002874	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	CCDS6769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.34|12.34	1.908900|1.908900	0.33721|0.33721	.|.	.|.	ENSG00000119318|ENSG00000119318	ENST00000457811|ENST00000358015;ENST00000374678;ENST00000416373	.|T;T	.|0.55234	.|0.53;0.53	5.05|5.05	5.05|5.05	0.67936|0.67936	.|UBA-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68988|0.68988	0.3061|0.3061	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.942;0.807	.|D;B;B	.|0.80764	.|0.994;0.362;0.195	T|T	0.63211|0.63211	-0.6688|-0.6688	5|10	.|0.19147	.|T	.|0.46	-15.7512|-15.7512	18.7738|18.7738	0.91902|0.91902	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|165;186;186	.|B7Z4W4;B4DEA3;P54727	.|.;.;RD23B_HUMAN	W|M	56|186;114;114	.|ENSP00000350708:T186M;ENSP00000405623:T114M	.|ENSP00000350708:T186M	R|T	+|+	1|2	2|0	RAD23B|RAD23B	109120857|109120857	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.279000|0.279000	0.26890|0.26890	7.459000|7.459000	0.80802|0.80802	2.515000|2.515000	0.84797|0.84797	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.398	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	
ACTL7B	10880	broad.mit.edu	37	9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111617150C>T	ENST00000374667.3	-	1	2089	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R354H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677																																					p.R354H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1061A	9						.						30.0	36.0	34.0					9																	111617150		2202	4299	6501	110656971	SO:0001583	missense	10880	exon1			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1061G>A	9.37:g.111617150C>T	ENSP00000363799:p.Arg354His	Somatic		Capture	Illumina HiSeq	Phase_I	110656971	NM_006686	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740686	0.89573	.	.	ENSG00000148156	ENST00000374667	D	0.99353	-5.77	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99597	0.9854	H	0.95745	3.715	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.97842	1.0269	10	0.87932	D	0	.	16.3291	0.83001	0.0:1.0:0.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	H	354	ENSP00000363799:R354H	ENSP00000363799:R354H	R	-	2	0	ACTL7B	110656971	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.961000	0.63681	2.449000	0.82847	0.561000	0.74099	CGC		0.677	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
ACTL7B	10880	broad.mit.edu	37	9	111617675	111617675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111617675G>A	ENST00000374667.3	-	1	1564	c.536C>T	c.(535-537)aCg>aTg	p.T179M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	179						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.T179M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGACTGGGACGTCACGTGCAT	0.647																																					p.T179M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C536T	9						.						50.0	46.0	47.0					9																	111617675		2201	4297	6498	110657496	SO:0001583	missense	10880	exon1			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.536C>T	9.37:g.111617675G>A	ENSP00000363799:p.Thr179Met	Somatic		Capture	Illumina HiSeq	Phase_I	110657496	NM_006686	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404782	0.83230	.	.	ENSG00000148156	ENST00000374667	D	0.94497	-3.44	4.65	4.65	0.58169	.	0.420496	0.17438	N	0.174227	D	0.94225	0.8146	N	0.25485	0.75	0.44652	D	0.997636	D	0.76494	0.999	P	0.60886	0.88	D	0.94720	0.7900	10	0.87932	D	0	.	15.0826	0.72127	0.0:0.0:1.0:0.0	.	179	Q9Y614	ACL7B_HUMAN	M	179	ENSP00000363799:T179M	ENSP00000363799:T179M	T	-	2	0	ACTL7B	110657496	1.000000	0.71417	0.971000	0.41717	0.927000	0.56198	7.775000	0.85489	2.414000	0.81942	0.655000	0.94253	ACG		0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
ACTL7B	10880	broad.mit.edu	37	9	111617854	111617854	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111617854G>A	ENST00000374667.3	-	1	1385	c.357C>T	c.(355-357)atC>atT	p.I119I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	119						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.I119I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGTCCACCACGATGCCGTGCT	0.637																																					p.I119I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	9						.						67.0	54.0	59.0					9																	111617854		2203	4300	6503	110657675	SO:0001819	synonymous_variant	10880	exon1			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.357C>T	9.37:g.111617854G>A		Somatic		Capture	Illumina HiSeq	Phase_I	110657675	NM_006686	B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	CCDS6771.1																																																																																				0.637	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
ACTL7A	10881	broad.mit.edu	37	9	111625208	111625208	+	Silent	SNP	G	G	A	rs377392593		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111625208G>A	ENST00000333999.3	+	1	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	202						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)	p.S202S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTACCAGTCGCGCCTGTCCA	0.562																																					p.S202S	Esophageal Squamous(177;1480 3591 17554)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	9						.	G		0,4406		0,0,2203	101.0	97.0	98.0		606	2.6	1.0	9		98	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTL7A	NM_006687.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		202/436	111625208	2,13004	2203	4300	6503	110665029	SO:0001819	synonymous_variant	10881	exon1			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.606G>A	9.37:g.111625208G>A		Somatic		Capture	Illumina HiSeq	Phase_I	110665029	NM_006687	B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	CCDS6772.1																																																																																				0.562	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687	
IKBKAP	8518	broad.mit.edu	37	9	111659550	111659550	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111659550C>T	ENST00000374647.5	-	23	2686	c.2379G>A	c.(2377-2379)acG>acA	p.T793T	IKBKAP_ENST00000537196.1_Silent_p.T444T	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	793					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.T793T(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACATGGTCTTCGTGACATCTT	0.468																																					p.T793T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2379A	9						.						181.0	157.0	165.0					9																	111659550		2203	4300	6503	110699371	SO:0001819	synonymous_variant	8518	exon23			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2379G>A	9.37:g.111659550C>T		Somatic		Capture	Illumina HiSeq	Phase_I	110699371	NM_003640	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																				0.468	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
CTNNAL1	8727	broad.mit.edu	37	9	111714507	111714507	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111714507G>A	ENST00000325551.4	-	14	1903	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.S522F|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.S606F|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.S7F	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	606					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.S606F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TAAATACAGAGAATAGGCCAT	0.343																																					p.S606F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1817T	9						.						100.0	94.0	96.0					9																	111714507		2203	4300	6503	110754328	SO:0001583	missense	8727	exon14			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1817C>T	9.37:g.111714507G>A	ENSP00000320434:p.Ser606Phe	Somatic		Capture	Illumina HiSeq	Phase_I	110754328	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004498	0.54254	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.56941	1.14;1.14;1.14;0.43	4.79	4.79	0.61399	.	0.219976	0.47455	D	0.000221	T	0.71409	0.3336	M	0.76328	2.33	0.21950	N	0.999451	D;D;D;D;D	0.64830	0.984;0.994;0.984;0.987;0.984	P;P;P;D;P	0.70016	0.899;0.9;0.899;0.967;0.899	T	0.65516	-0.6149	10	0.66056	D	0.02	-10.5491	15.6868	0.77418	0.0:0.0:1.0:0.0	.	606;522;606;606;606	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	F	606;606;522;7	ENSP00000363723:S606F;ENSP00000320434:S606F;ENSP00000323351:S522F;ENSP00000363722:S7F	ENSP00000320434:S606F	S	-	2	0	CTNNAL1	110754328	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.678000	0.61641	2.366000	0.80165	0.563000	0.77884	TCT		0.343	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
CTNNAL1	8727	broad.mit.edu	37	9	111761416	111761416	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111761416C>T	ENST00000325551.4	-	2	348	c.262G>A	c.(262-264)Gct>Act	p.A88T	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.A88T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.A88T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A88T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	88					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.A88T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGGCTATAGCTTCTCCTACT	0.348																																					p.A88T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	9						.						167.0	166.0	166.0					9																	111761416		2203	4300	6503	110801237	SO:0001583	missense	8727	exon2			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.262G>A	9.37:g.111761416C>T	ENSP00000320434:p.Ala88Thr	Somatic		Capture	Illumina HiSeq	Phase_I	110801237	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713387	0.48517	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	6.07	6.07	0.98685	.	0.046331	0.85682	D	0.000000	T	0.22898	0.0553	N	0.21545	0.675	0.58432	D	0.999999	B;B;B	0.31413	0.322;0.015;0.322	B;B;B	0.30029	0.11;0.02;0.11	T	0.08554	-1.0716	10	0.13853	T	0.58	-13.9276	11.4186	0.49967	0.0:0.9189:0.0:0.0811	.	88;88;88	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	88	ENSP00000363723:A88T;ENSP00000320434:A88T;ENSP00000323351:A88T;ENSP00000363721:A88T	ENSP00000320434:A88T	A	-	1	0	CTNNAL1	110801237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.058000	0.71126	2.885000	0.99019	0.655000	0.94253	GCT		0.348	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
PTPN3	5774	broad.mit.edu	37	9	112172289	112172289	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:112172289A>C	ENST00000374541.2	-	16	1672	c.1568T>G	c.(1567-1569)tTt>tGt	p.F523C	PTPN3_ENST00000394827.3_De_novo_Start_OutOfFrame|PTPN3_ENST00000262539.3_Missense_Mutation_p.F369C|PTPN3_ENST00000446349.1_Missense_Mutation_p.F347C|PTPN3_ENST00000412145.1_Missense_Mutation_p.F392C	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	523	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.F523C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTTAAGATTAAATCCAAATTT	0.353																																					p.F191C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T572G	9						.						83.0	76.0	78.0					9																	112172289		2203	4300	6503	111212110	SO:0001583	missense	5774	exon5				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1568T>G	9.37:g.112172289A>C	ENSP00000363667:p.Phe523Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111212110	NM_001145372	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534226	0.85812	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80350	-0.1419	10	0.87932	D	0	.	15.7892	0.78338	1.0:0.0:0.0:0.0	.	369;478;523	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	C	523;392;347;523;369	ENSP00000416654:F392C;ENSP00000395384:F347C;ENSP00000363667:F523C;ENSP00000262539:F369C	ENSP00000262539:F369C	F	-	2	0	PTPN3	111212110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.141000	0.89618	2.189000	0.69895	0.460000	0.39030	TTT		0.353	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
PTPN3	5774	broad.mit.edu	37	9	112185044	112185044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:112185044C>A	ENST00000374541.2	-	13	1194	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000412145.1_Nonsense_Mutation_p.E233*	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	364					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.E364*(1)|p.E364Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCTTGGTTTCTAAGTGCTCC	0.448																																					p.E364X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	urinary_tract(1)|large_intestine(1)	c.G1090T	9						.						203.0	188.0	193.0					9																	112185044		2203	4300	6503	111224865	SO:0001587	stop_gained	5774	exon13				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1090G>T	9.37:g.112185044C>A	ENSP00000363667:p.Glu364*	Somatic		Capture	Illumina HiSeq	Phase_I	111224865	NM_002829	A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	55	24.723392	0.99962	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	.	.	.	5.55	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.4967	0.67694	0.0:0.9294:0.0:0.0706	.	.	.	.	X	364;233;364	.	ENSP00000363667:E364X	E	-	1	0	PTPN3	111224865	1.000000	0.71417	0.898000	0.35279	0.999000	0.98932	7.487000	0.81328	1.362000	0.46000	0.650000	0.86243	GAA		0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
PTPN3	5774	broad.mit.edu	37	9	112225699	112225699	+	Missense_Mutation	SNP	G	G	A	rs147740778		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:112225699G>A	ENST00000374541.2	-	2	120	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	PTPN3_ENST00000262539.3_De_novo_Start_InFrame	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	6					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.R6C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCCAACGCACGTAACCGGGAG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0				p.R6C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16T	9						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	108.0	109.0		16,16	5.2	1.0	9	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	PTPN3	NM_001145368.1,NM_002829.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	6/869,6/914	112225699	1,13005	2203	4300	6503	111265520	SO:0001583	missense	5774	exon2				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.16C>T	9.37:g.112225699G>A	ENSP00000363667:p.Arg6Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111265520	NM_002829	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.4	4.410175	0.83340	2.27E-4	0.0	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.73047	-0.71	5.25	5.25	0.73442	.	0.071283	0.56097	D	0.000025	T	0.61261	0.2333	N	0.20986	0.625	0.80722	D	1	B;B;P	0.41947	0.289;0.341;0.766	B;B;B	0.39531	0.032;0.044;0.302	T	0.66763	-0.5841	10	0.56958	D	0.05	.	18.814	0.92070	0.0:0.0:1.0:0.0	.	6;6;6	B7Z9V1;Q45VJ3;P26045	.;.;PTN3_HUMAN	C	6	ENSP00000363667:R6C	ENSP00000363667:R6C	R	-	1	0	PTPN3	111265520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.006000	0.76329	2.604000	0.88044	0.557000	0.71058	CGT		0.403	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
PALM2	114299	broad.mit.edu	37	9	112687354	112687354	+	Missense_Mutation	SNP	C	C	T	rs150674445	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:112687354C>T	ENST00000374531.2	+	6	466	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T129M|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.T129M|PALM2_ENST00000483909.1_Missense_Mutation_p.T129M|PALM2_ENST00000314527.4_Missense_Mutation_p.T129M|PALM2_ENST00000448454.2_Missense_Mutation_p.T131M|AKAP2_ENST00000555236.1_Missense_Mutation_p.T129M|AKAP2_ENST00000510514.5_Missense_Mutation_p.T129M	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	131					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.T129M(1)|p.T131M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TTCTCCAGTACGGATGGAGGT	0.458													C|||	3	0.000599042	0.0	0.0	5008	,	,		19875	0.0		0.0	False		,,,				2504	0.0031				p.T129M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C386T	9						.	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	224.0	191.0	202.0		392,386,386,386	4.5	0.9	9	dbSNP_134	202	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	81,81,81,81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	131/380,129/1104,129/412,129/1091	112687354	4,13002	2203	4300	6503	111727175	SO:0001583	missense	445815	exon5			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.392C>T	9.37:g.112687354C>T	ENSP00000363656:p.Thr131Met	Somatic		Capture	Illumina HiSeq	Phase_I	111727175	NM_053016	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197353	0.58126	0.0	4.65E-4	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.32515	2.26;2.17;2.26;2.17;1.45;2.19;2.17;2.19;2.19;2.19	5.42	4.46	0.54185	.	0.784649	0.11282	N	0.580252	T	0.24774	0.0601	N	0.17082	0.46	0.24227	N	0.995413	D;D;P;P	0.57257	0.979;0.979;0.66;0.927	B;B;B;P	0.45946	0.437;0.437;0.139;0.498	T	0.08617	-1.0713	10	0.87932	D	0	0.0067	11.2003	0.48736	0.2577:0.7423:0.0:0.0	.	129;129;131;131	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	M	131;131;129;129;115;129;129;129;129;129	ENSP00000363656:T131M;ENSP00000400206:T131M;ENSP00000417525:T129M;ENSP00000323805:T129M;ENSP00000419747:T115M;ENSP00000363654:T129M;ENSP00000397839:T129M;ENSP00000305861:T129M;ENSP00000451476:T129M;ENSP00000421522:T129M	ENSP00000305861:T129M	T	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111727175	0.696000	0.27757	0.919000	0.36401	0.979000	0.70002	1.159000	0.31749	2.695000	0.91970	0.655000	0.94253	ACG		0.458	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293	
AKAP2	11217	broad.mit.edu	37	9	112899528	112899528	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:112899528G>A	ENST00000259318.7	+	2	1218	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	AKAP2_ENST00000374525.1_Silent_p.R426R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R568R|PALM2-AKAP2_ENST00000374530.3_Silent_p.R568R|AKAP2_ENST00000555236.1_Silent_p.R568R|AKAP2_ENST00000434623.2_Silent_p.R426R|AKAP2_ENST00000510514.5_Silent_p.R568R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	337								p.R426R(1)|p.R568R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAATTCCAGGCAAGCGGTGG	0.507																																					p.R426R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1278A	9						.						34.0	35.0	35.0					9																	112899528		2203	4300	6503	111939349	SO:0001819	synonymous_variant	445815	exon2			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1011G>A	9.37:g.112899528G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111939349	NM_001004065	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	CCDS48003.1																																																																																				0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
SVEP1	79987	broad.mit.edu	37	9	113205970	113205970	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113205970C>A	ENST00000401783.2	-	27	4830	c.4494G>T	c.(4492-4494)aaG>aaT	p.K1498N	SVEP1_ENST00000302728.8_Missense_Mutation_p.K1498N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K1475N|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1498	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.K1498N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTTTGTTATCTTTTCCCTGC	0.438																																					p.K1498N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4494T	9						.						77.0	77.0	77.0					9																	113205970		1919	4128	6047	112245791	SO:0001583	missense	79987	exon27			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4494G>T	9.37:g.113205970C>A	ENSP00000384917:p.Lys1498Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112245791	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625674	0.46840	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73363	3.11;3.11;-0.74	5.46	2.48	0.30137	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.230223	0.45361	D	0.000367	T	0.64159	0.2573	L	0.54323	1.7	0.33650	D	0.608391	P;P	0.36354	0.549;0.549	B;B	0.37198	0.197;0.243	T	0.63937	-0.6524	10	0.29301	T	0.29	.	5.3452	0.16006	0.126:0.5045:0.0:0.3695	.	1498;1498	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1498;1475;1498	ENSP00000384917:K1498N;ENSP00000363593:K1475N;ENSP00000304118:K1498N	ENSP00000304118:K1498N	K	-	3	2	SVEP1	112245791	0.996000	0.38824	0.865000	0.33974	0.879000	0.50718	1.495000	0.35627	0.301000	0.22738	0.655000	0.94253	AAG		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113220826	113220826	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113220826G>T	ENST00000401783.2	-	20	3837	c.3501C>A	c.(3499-3501)ttC>ttA	p.F1167L	SVEP1_ENST00000302728.8_Missense_Mutation_p.F1167L|SVEP1_ENST00000374469.1_Missense_Mutation_p.F1144L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1167					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F1167L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCCGCTGAGAAAGTTGAAC	0.398																																					p.F1167L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3501A	9						.						41.0	41.0	41.0					9																	113220826		1852	4097	5949	112260647	SO:0001583	missense	79987	exon20			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3501C>A	9.37:g.113220826G>T	ENSP00000384917:p.Phe1167Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112260647	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363900	0.61513	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.77750	-0.95;-0.96;-1.12	5.6	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.71581	2.175	0.30586	N	0.761983	D;D	0.69078	0.982;0.997	D;D	0.75020	0.952;0.985	T	0.78961	-0.1997	10	0.12103	T	0.63	.	11.9827	0.53129	0.2322:0.0:0.7678:0.0	.	1167;1167	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1167;1144;1167	ENSP00000384917:F1167L;ENSP00000363593:F1144L;ENSP00000304118:F1167L	ENSP00000304118:F1167L	F	-	3	2	SVEP1	112260647	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.313000	0.43735	1.278000	0.44430	0.591000	0.81541	TTC		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113221371	113221371	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113221371G>T	ENST00000401783.2	-	19	3681	c.3345C>A	c.(3343-3345)ttC>ttA	p.F1115L	SVEP1_ENST00000302728.8_Missense_Mutation_p.F1115L|SVEP1_ENST00000374469.1_Missense_Mutation_p.F1092L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1115					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F1115L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAACGCGAGAATTTTCCTT	0.433																																					p.F1115L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3345A	9						.						125.0	121.0	122.0					9																	113221371		1902	4113	6015	112261192	SO:0001583	missense	79987	exon19			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3345C>A	9.37:g.113221371G>T	ENSP00000384917:p.Phe1115Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112261192	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452307	0.63290	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15952	2.38;2.38;2.38	5.6	2.78	0.32641	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	M	0.83774	2.66	0.32550	N	0.532559	D;D	0.76494	0.992;0.999	D;D	0.83275	0.987;0.996	T	0.51020	-0.8758	10	0.23302	T	0.38	.	10.3467	0.43909	0.2117:0.0:0.7883:0.0	.	1115;1115	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1115;1092;1115	ENSP00000384917:F1115L;ENSP00000363593:F1092L;ENSP00000304118:F1115L	ENSP00000304118:F1115L	F	-	3	2	SVEP1	112261192	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	2.904000	0.48719	0.727000	0.32360	0.591000	0.81541	TTC		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113228204	113228204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113228204G>A	ENST00000401783.2	-	18	3599	c.3263C>T	c.(3262-3264)tCg>tTg	p.S1088L	SVEP1_ENST00000302728.8_Missense_Mutation_p.S1088L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S1065L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1088					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.S1088L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCTGGACACGAGAGGCAGCT	0.448																																					p.S1088L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3263T	9						.						55.0	50.0	52.0					9																	113228204		1873	4095	5968	112268025	SO:0001583	missense	79987	exon18			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3263C>T	9.37:g.113228204G>A	ENSP00000384917:p.Ser1088Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112268025	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358617	0.24598	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15487	2.42;2.42;2.42	5.91	-9.06	0.00727	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	1.388660	0.04267	N	0.341349	T	0.15305	0.0369	L	0.35249	1.045	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	T	0.19192	-1.0313	10	0.31617	T	0.26	.	21.2973	0.99950	0.2367:0.0:0.7633:0.0	.	1088;1088	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1088;1065;1088	ENSP00000384917:S1088L;ENSP00000363593:S1065L;ENSP00000304118:S1088L	ENSP00000304118:S1088L	S	-	2	0	SVEP1	112268025	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	0.063000	0.14410	-1.601000	0.01601	-0.793000	0.03317	TCG		0.448	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
LPAR1	1902	broad.mit.edu	37	9	113703878	113703878	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113703878A>G	ENST00000374431.3	-	4	999	c.616T>C	c.(616-618)Tac>Cac	p.Y206H	LPAR1_ENST00000538760.1_Missense_Mutation_p.Y207H|LPAR1_ENST00000374430.2_Missense_Mutation_p.Y206H|LPAR1_ENST00000541779.1_Missense_Mutation_p.Y207H|LPAR1_ENST00000358883.4_Missense_Mutation_p.Y206H	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	206					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.Y206H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AAGACTAAGTAAGAGTCACTG	0.453																																					p.Y206H	NSCLC(115;661 2323 9836 34256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T616C	9						.						149.0	138.0	142.0					9																	113703878		2203	4300	6503	112743699	SO:0001583	missense	1902	exon3			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.616T>C	9.37:g.113703878A>G	ENSP00000363553:p.Tyr206His	Somatic		Capture	Illumina HiSeq	Phase_I	112743699	NM_001401	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089184	0.76756	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.77321	-0.2631	10	0.87932	D	0	.	14.5782	0.68265	1.0:0.0:0.0:0.0	.	207;207;206	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	H	206;207;206;206;188;207	ENSP00000363553:Y206H;ENSP00000445697:Y207H;ENSP00000363552:Y206H;ENSP00000351755:Y206H;ENSP00000440201:Y207H	ENSP00000351755:Y206H	Y	-	1	0	LPAR1	112743699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.051000	0.60960	0.533000	0.62120	TAC		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
KIAA0368	23392	broad.mit.edu	37	9	114141006	114141006	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114141006T>C	ENST00000338205.5	-	35	4027	c.3808A>G	c.(3808-3810)Aac>Gac	p.N1270D	KIAA0368_ENST00000259335.4_Missense_Mutation_p.N1448D|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1276					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.N1448D(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACAAGGGTGTTAATGCTACAA	0.428																																					p.N1448D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4342G	9						.						87.0	83.0	84.0					9																	114141006		1928	4134	6062	113180827	SO:0001583	missense	23392	exon37			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3808A>G	9.37:g.114141006T>C	ENSP00000339889:p.Asn1270Asp	Somatic		Capture	Illumina HiSeq	Phase_I	113180827	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	T	15.89	2.967437	0.53507	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.65178	-0.14	5.4	5.4	0.78164	.	0.108661	0.64402	D	0.000005	T	0.45175	0.1329	N	0.16790	0.44	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.37842	-0.9688	10	0.12766	T	0.61	.	15.7245	0.77743	0.0:0.0:0.0:1.0	.	745	B3KXF2	.	D	1270;1448;745	ENSP00000259335:N1448D	ENSP00000259335:N1448D	N	-	1	0	KIAA0368	113180827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.243000	0.72384	2.165000	0.68154	0.460000	0.39030	AAC		0.428	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
KIAA0368	23392	broad.mit.edu	37	9	114148718	114148718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114148718C>A	ENST00000338205.5	-	31	3685	c.3466G>T	c.(3466-3468)Gaa>Taa	p.E1156*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.E1334*|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1162					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.E1334*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGAAGAATTTCTTTCAAATAT	0.303																																					p.E1334X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4000T	9						.						42.0	41.0	42.0					9																	114148718		1802	4070	5872	113188539	SO:0001587	stop_gained	23392	exon33			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3466G>T	9.37:g.114148718C>A	ENSP00000339889:p.Glu1156*	Somatic		Capture	Illumina HiSeq	Phase_I	113188539	NM_001080398	O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	46	12.138703	0.99639	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	15.602	0.76631	0.0:0.9329:0.0:0.0671	.	.	.	.	X	1156;1334;631	.	ENSP00000259335:E1334X	E	-	1	0	KIAA0368	113188539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.557000	0.67313	2.850000	0.98022	0.650000	0.86243	GAA		0.303	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	rs201645923		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					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)	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423																																					p.R349H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1046A	9						.						80.0	91.0	87.0					9																	114304261		2203	4299	6502	113344082	SO:0001583	missense	158399	exon6			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His	Somatic		Capture	Illumina HiSeq	Phase_I	113344082	NM_133464	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
ZNF483	158399	broad.mit.edu	37	9	114305427	114305427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114305427C>T	ENST00000309235.5	+	6	2370	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	738					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)	p.R738W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CATTAGACATCGGGGATTTCA	0.373																																					p.R738W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2212T	9						.						55.0	55.0	55.0					9																	114305427		2199	4292	6491	113345248	SO:0001583	missense	158399	exon6			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.2212C>T	9.37:g.114305427C>T	ENSP00000311679:p.Arg738Trp	Somatic		Capture	Illumina HiSeq	Phase_I	113345248	NM_133464	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260155	0.39995	.	.	ENSG00000173258	ENST00000309235	T	0.05258	3.47	3.83	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.469142	0.15991	N	0.234830	T	0.11024	0.0269	L	0.59967	1.855	0.80722	D	1	D	0.63880	0.993	P	0.47470	0.548	T	0.07966	-1.0745	10	0.72032	D	0.01	-4.7422	11.0199	0.47711	0.1875:0.8125:0.0:0.0	.	738	Q8TF39	ZN483_HUMAN	W	738	ENSP00000311679:R738W	ENSP00000311679:R738W	R	+	1	2	ZNF483	113345248	0.004000	0.15560	0.999000	0.59377	0.360000	0.29518	0.951000	0.29135	1.180000	0.42898	0.591000	0.81541	CGG		0.373	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
PTGR1	22949	broad.mit.edu	37	9	114337081	114337081	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114337081C>A	ENST00000407693.2	-	8	955	c.693G>T	c.(691-693)aaG>aaT	p.K231N	PTGR1_ENST00000538962.1_Missense_Mutation_p.K231N|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000238248.3_Missense_Mutation_p.K108N|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Missense_Mutation_p.K231N	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	231					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)	p.K231N(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCCAAATTTCTTCATCTGGC	0.408																																					p.K231N	Ovarian(200;132 2151 7551 19220 46064)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G693T	9						.						137.0	129.0	132.0					9																	114337081		2203	4300	6503	113376902	SO:0001583	missense	22949	exon8			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.693G>T	9.37:g.114337081C>A	ENSP00000385763:p.Lys231Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113376902	NM_001146109	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237502	0.10023	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.75	2.88	0.33553	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.045544	0.85682	N	0.000000	T	0.14570	0.0352	N	0.13140	0.3	0.53005	D	0.999962	B;B;B;B	0.29612	0.251;0.248;0.134;0.099	B;B;B;B	0.31016	0.12;0.123;0.035;0.047	T	0.07849	-1.0751	10	0.05833	T	0.94	-16.6774	9.6972	0.40165	0.0:0.7768:0.1425:0.0807	.	231;231;108;231	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	N	231;231;231;108;108	ENSP00000440281:K231N;ENSP00000311572:K231N;ENSP00000385763:K231N;ENSP00000238248:K108N	ENSP00000238248:K108N	K	-	3	2	PTGR1	113376902	0.994000	0.37717	0.995000	0.50966	0.515000	0.34225	1.313000	0.33585	0.685000	0.31468	-0.218000	0.12543	AAG		0.408	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
PTGR1	22949	broad.mit.edu	37	9	114356527	114356527	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114356527A>G	ENST00000407693.2	-	3	389	c.127T>C	c.(127-129)Ttc>Ctc	p.F43L	PTGR1_ENST00000538962.1_Missense_Mutation_p.F43L|PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000309195.5_Missense_Mutation_p.F43L	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	43					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)	p.F43L(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						ACGGTGAGGAACAAAGCTTCA	0.408																																					p.F43L	Ovarian(200;132 2151 7551 19220 46064)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T127C	9						.						107.0	94.0	98.0					9																	114356527		2203	4300	6503	113396348	SO:0001583	missense	22949	exon3			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.127T>C	9.37:g.114356527A>G	ENSP00000385763:p.Phe43Leu	Somatic		Capture	Illumina HiSeq	Phase_I	113396348	NM_001146109	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846627	0.51164	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.56	4.56	0.56223	GroES-like (1);	0.097231	0.64402	D	0.000001	T	0.48277	0.1491	L	0.55834	1.745	0.80722	D	1	P;D;B	0.54772	0.949;0.968;0.15	P;P;B	0.50570	0.582;0.644;0.068	T	0.53606	-0.8415	10	0.72032	D	0.01	-12.3547	13.5711	0.61847	1.0:0.0:0.0:0.0	.	43;43;43	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	L	43	ENSP00000440281:F43L;ENSP00000311572:F43L;ENSP00000385763:F43L;ENSP00000395965:F43L	ENSP00000311572:F43L	F	-	1	0	PTGR1	113396348	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.347000	0.79356	1.995000	0.58328	0.460000	0.39030	TTC		0.408	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
C9orf84	158401	broad.mit.edu	37	9	114454179	114454179	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114454179A>C	ENST00000318737.4	-	25	4014	c.3886T>G	c.(3886-3888)Ttt>Gtt	p.F1296V	C9orf84_ENST00000374287.3_Missense_Mutation_p.F1296V|C9orf84_ENST00000394777.4_Missense_Mutation_p.F1222V|C9orf84_ENST00000394779.3_Missense_Mutation_p.F1257V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1296								p.F1296V(1)|p.F1257V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTTTCTTAAAGTTCCAATGA	0.368																																					p.F1296V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3886G	9						.						61.0	62.0	62.0					9																	114454179		2203	4300	6503	113494000	SO:0001583	missense	158401	exon25			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3886T>G	9.37:g.114454179A>C	ENSP00000322108:p.Phe1296Val	Somatic		Capture	Illumina HiSeq	Phase_I	113494000	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	4.167	0.029504	0.08054	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.07021	3.23;3.28;3.24;3.24	4.73	-4.0	0.04057	.	1.141290	0.06600	N	0.753545	T	0.05502	0.0145	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.10450	0.005;0.005;0.005	T	0.44620	-0.9316	10	0.72032	D	0.01	0.8825	2.0212	0.03509	0.2466:0.3678:0.0823:0.3033	.	1222;1296;1257	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	V	1257;1222;910;1296;1296	ENSP00000378259:F1257V;ENSP00000378257:F1222V;ENSP00000363405:F1296V;ENSP00000322108:F1296V	ENSP00000322108:F1296V	F	-	1	0	C9orf84	113494000	0.768000	0.28519	0.000000	0.03702	0.055000	0.15305	-0.161000	0.10026	-0.763000	0.04658	0.383000	0.25322	TTT		0.368	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
C9orf84	158401	broad.mit.edu	37	9	114518729	114518729	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114518729G>T	ENST00000318737.4	-	6	674	c.546C>A	c.(544-546)ttC>ttA	p.F182L	C9orf84_ENST00000374287.3_Missense_Mutation_p.F182L|C9orf84_ENST00000394777.4_Missense_Mutation_p.F143L|C9orf84_ENST00000394779.3_Missense_Mutation_p.F143L|C9orf84_ENST00000374283.5_Missense_Mutation_p.F246L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	182								p.F143L(1)|p.F182L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGGTATTAAGAATTCATACT	0.318																																					p.F182L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C546A	9						.						62.0	65.0	64.0					9																	114518729		2202	4294	6496	113558550	SO:0001583	missense	158401	exon6			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.546C>A	9.37:g.114518729G>T	ENSP00000322108:p.Phe182Leu	Somatic		Capture	Illumina HiSeq	Phase_I	113558550	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.982396	0.00448	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.41	2.2	0.27929	.	0.741063	0.12186	N	0.491689	T	0.20618	0.0496	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.30179	-0.9987	10	0.02654	T	1	1.0872	4.6607	0.12641	0.0902:0.1412:0.6057:0.1629	.	143;246;182;143	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	L	143;143;182;182;246	ENSP00000378259:F143L;ENSP00000378257:F143L;ENSP00000363405:F182L;ENSP00000322108:F182L;ENSP00000363401:F246L	ENSP00000322108:F182L	F	-	3	2	C9orf84	113558550	0.952000	0.32445	0.352000	0.25734	0.005000	0.04900	1.244000	0.32778	0.648000	0.30732	0.655000	0.94253	TTC		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
PTBP3	9991	broad.mit.edu	37	9	115030433	115030433	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:115030433C>T	ENST00000374255.2	-	5	478	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PTBP3_ENST00000458258.1_Missense_Mutation_p.V117M|PTBP3_ENST00000343327.2_Missense_Mutation_p.V16M|PTBP3_ENST00000374257.1_Missense_Mutation_p.V83M|PTBP3_ENST00000334318.6_Missense_Mutation_p.V114M|PTBP3_ENST00000487997.1_5'UTR			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	111	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V111M(1)									TAATAATTCACCATAGTAACG	0.373																																					p.V114M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	9						.						87.0	86.0	86.0					9																	115030433		2203	4300	6503	114070254	SO:0001583	missense	9991	exon5			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.331G>A	9.37:g.115030433C>T	ENSP00000363373:p.Val111Met	Somatic		Capture	Illumina HiSeq	Phase_I	114070254	NM_001163790	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185687	0.57909	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327;ENST00000210227	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.48	4.57	0.56435	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.188305	0.46442	D	0.000283	T	0.80757	0.4684	L	0.54323	1.7	0.54753	D	0.999985	B;P;B;B;B;B	0.46277	0.223;0.875;0.118;0.144;0.281;0.443	B;P;B;B;B;B	0.52109	0.394;0.69;0.141;0.066;0.345;0.167	T	0.81951	-0.0698	10	0.62326	D	0.03	-0.0085	13.3729	0.60723	0.0:0.9227:0.0:0.0773	.	83;83;16;114;111;117	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	M	83;114;117;111;16;117	ENSP00000363375:V83M;ENSP00000334499:V114M;ENSP00000414921:V117M;ENSP00000363373:V111M;ENSP00000340705:V16M;ENSP00000210227:V117M	ENSP00000210227:V117M	V	-	1	0	ROD1	114070254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.644000	0.54381	1.265000	0.44215	0.650000	0.86243	GTG		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
HSDL2	84263	broad.mit.edu	37	9	115232726	115232726	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:115232726A>G	ENST00000398805.3	+	11	1386	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A	HSDL2_ENST00000262542.7_Missense_Mutation_p.T267A|HSDL2_ENST00000539114.1_Missense_Mutation_p.T182A|HSDL2_ENST00000398803.1_Missense_Mutation_p.T314A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	387	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.T387A(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ACTAAAACCAACAATGGCATT	0.373																																					p.T314A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A940G	9						.						82.0	76.0	78.0					9																	115232726		1834	4101	5935	114272547	SO:0001583	missense	84263	exon9			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1159A>G	9.37:g.115232726A>G	ENSP00000381785:p.Thr387Ala	Somatic		Capture	Illumina HiSeq	Phase_I	114272547	NM_001195822	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052812	0.55218	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.89	5.89	0.94794	SCP2 sterol-binding domain (2);	0.092777	0.85682	D	0.000000	T	0.47040	0.1424	M	0.62723	1.935	0.80722	D	1	D;D;B	0.89917	0.998;1.0;0.1	D;D;B	0.87578	0.994;0.998;0.254	T	0.28870	-1.0030	10	0.25751	T	0.34	.	14.5455	0.68027	1.0:0.0:0.0:0.0	.	314;314;387	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	A	387;314;267;182	ENSP00000381785:T387A;ENSP00000381783:T314A;ENSP00000262542:T267A;ENSP00000442278:T182A	ENSP00000262542:T267A	T	+	1	0	HSDL2	114272547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.801000	0.62532	2.245000	0.73994	0.455000	0.32223	ACA		0.373	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303	
SLC46A2	57864	broad.mit.edu	37	9	115652740	115652740	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:115652740G>T	ENST00000374228.4	-	1	453	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	74					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I74I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGAAATTGGAGATGGCTCTCT	0.612																																					p.I74I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222A	9						.						112.0	114.0	113.0					9																	115652740		2203	4300	6503	114692561	SO:0001819	synonymous_variant	57864	exon1			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.222C>A	9.37:g.115652740G>T		Somatic		Capture	Illumina HiSeq	Phase_I	114692561	NM_033051	B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	CCDS6786.1																																																																																				0.612	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	
POLE3	54107	broad.mit.edu	37	9	116171980	116171980	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116171980G>A	ENST00000374171.4	-	4	351	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000374169.3_Missense_Mutation_p.R61W|C9orf43_ENST00000288462.4_5'Flank	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	61					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.R61W(1)		large_intestine(2)|lung(1)	3					Cladribine(DB00242)	AGCGTCTTCCGCTTTCCTTTC	0.507																																					p.R61W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181T	9						.						109.0	97.0	101.0					9																	116171980		2203	4300	6503	115211801	SO:0001583	missense	54107	exon4			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.181C>T	9.37:g.116171980G>A	ENSP00000363286:p.Arg61Trp	Somatic		Capture	Illumina HiSeq	Phase_I	115211801	NM_017443	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Missense_Mutation	SNP	ENST00000374171.4	37	CCDS6795.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.926057	0.73327	.	.	ENSG00000148229	ENST00000374171;ENST00000374169	T;T	0.36157	1.27;1.27	5.36	4.47	0.54385	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.053861	0.64402	D	0.000001	T	0.69043	0.3067	H	0.97265	3.97	0.52099	D	0.999945	D	0.89917	1.0	D	0.87578	0.998	T	0.74618	-0.3605	10	0.87932	D	0	2.2223	6.6445	0.22927	0.0884:0.0:0.7345:0.1771	.	61	Q9NRF9	DPOE3_HUMAN	W	61	ENSP00000363286:R61W;ENSP00000363284:R61W	ENSP00000363284:R61W	R	-	1	2	POLE3	115211801	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	3.259000	0.51515	1.496000	0.48567	0.563000	0.77884	CGG		0.507	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053730.1	NM_017443	
C9orf43	257169	broad.mit.edu	37	9	116186515	116186515	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116186515G>T	ENST00000288462.4	+	8	1172	c.726G>T	c.(724-726)aaG>aaT	p.K242N	C9orf43_ENST00000374165.1_Missense_Mutation_p.K242N	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	242								p.K242N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGATGAAAAAGAATCTTCCCT	0.453																																					p.K242N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	9						.						185.0	191.0	189.0					9																	116186515		2203	4300	6503	115226336	SO:0001583	missense	257169	exon8			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.726G>T	9.37:g.116186515G>T	ENSP00000288462:p.Lys242Asn	Somatic		Capture	Illumina HiSeq	Phase_I	115226336	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776418	0.31411	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.62232	0.04;0.04	4.33	0.33	0.15929	.	0.139716	0.33161	N	0.005218	T	0.45276	0.1334	L	0.34521	1.04	0.20975	N	0.999812	P	0.40107	0.703	B	0.40864	0.342	T	0.40365	-0.9567	10	0.87932	D	0	-15.1428	3.3396	0.07114	0.1969:0.0:0.4429:0.3602	.	242	Q8TAL5	CI043_HUMAN	N	242	ENSP00000363280:K242N;ENSP00000288462:K242N	ENSP00000288462:K242N	K	+	3	2	C9orf43	115226336	0.945000	0.32115	0.119000	0.21687	0.444000	0.32077	1.506000	0.35747	0.056000	0.16144	-0.309000	0.09137	AAG		0.453	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
C9orf43	257169	broad.mit.edu	37	9	116187673	116187673	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116187673G>T	ENST00000288462.4	+	10	1361	c.915G>T	c.(913-915)aaG>aaT	p.K305N	C9orf43_ENST00000374165.1_Missense_Mutation_p.K305N	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	305								p.K305N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcaacagAAGAAGGTGAAAA	0.542																																					p.K305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	9						.						67.0	63.0	65.0					9																	116187673		2203	4300	6503	115227494	SO:0001583	missense	257169	exon10			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.915G>T	9.37:g.116187673G>T	ENSP00000288462:p.Lys305Asn	Somatic		Capture	Illumina HiSeq	Phase_I	115227494	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	2.201	-0.382884	0.04966	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.42513	0.97;0.97	4.1	2.26	0.28386	.	1.468020	0.04249	N	0.338223	T	0.28333	0.0700	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.20955	0.032	T	0.23226	-1.0194	10	0.42905	T	0.14	-0.1725	6.6356	0.22881	0.2165:0.0:0.7835:0.0	.	305	Q8TAL5	CI043_HUMAN	N	305	ENSP00000363280:K305N;ENSP00000288462:K305N	ENSP00000288462:K305N	K	+	3	2	C9orf43	115227494	0.923000	0.31300	0.026000	0.17262	0.020000	0.10135	3.426000	0.52778	0.681000	0.31386	-0.251000	0.11542	AAG		0.542	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
ZNF618	114991	broad.mit.edu	37	9	116811321	116811321	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116811321T>C	ENST00000374126.5	+	15	1838	c.1739T>C	c.(1738-1740)gTg>gCg	p.V580A	ZNF618_ENST00000288466.7_Missense_Mutation_p.V487A|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V487A(1)|p.V580A(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAGAGCTATGTGCTTGGTGTG	0.587																																					p.V487A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1460C	9						.						53.0	54.0	54.0					9																	116811321		2190	4278	6468	115851142	SO:0001583	missense	114991	exon14			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1739T>C	9.37:g.116811321T>C	ENSP00000363241:p.Val580Ala	Somatic		Capture	Illumina HiSeq	Phase_I	115851142	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	T	17.64	3.440673	0.63067	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.23348	1.91;1.91	4.93	4.93	0.64822	Ribonuclease H-like (1);	0.060182	0.64402	D	0.000004	T	0.48768	0.1518	.	.	.	0.80722	D	1	D;D;D	0.69078	0.969;0.997;0.997	D;D;D	0.77557	0.93;0.978;0.99	T	0.45454	-0.9260	9	0.39692	T	0.17	-18.5646	14.0577	0.64779	0.0:0.0:0.0:1.0	.	547;580;487	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	A	580;487	ENSP00000363241:V580A;ENSP00000288466:V487A	ENSP00000288466:V487A	V	+	2	0	ZNF618	115851142	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.423000	0.80229	1.975000	0.57531	0.379000	0.24179	GTG		0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
COL27A1	85301	broad.mit.edu	37	9	116930628	116930628	+	Missense_Mutation	SNP	G	G	A	rs34578955	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116930628G>A	ENST00000356083.3	+	3	1184	c.793G>A	c.(793-795)Gcc>Acc	p.A265T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	265			A -> T (in dbSNP:rs34578955).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.A265T(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTCCGACCTCGCCCTGCTAGG	0.642													G|||	73	0.0145767	0.0522	0.0043	5008	,	,		16664	0.0		0.001	False		,,,				2504	0.0				p.A265T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	9						.	G	THR/ALA	242,4164	141.5+/-176.9	5,232,1966	65.0	61.0	62.0		793	2.9	0.0	9	dbSNP_126	62	3,8597	2.2+/-6.3	0,3,4297	yes	missense	COL27A1	NM_032888.2	58	5,235,6263	AA,AG,GG		0.0349,5.4925,1.8837	benign	265/1861	116930628	245,12761	2203	4300	6503	115970449	SO:0001583	missense	85301	exon3			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.793G>A	9.37:g.116930628G>A	ENSP00000348385:p.Ala265Thr	Somatic		Capture	Illumina HiSeq	Phase_I	115970449	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	28	0.01282051282051282	27	0.054878048780487805	0	0.0	0	0.0	1	0.0013192612137203166	G	12.18	1.861063	0.32884	0.054925	3.49E-4	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91577	-2.58;-2.87	4.96	2.88	0.33553	.	.	.	.	.	T	0.42765	0.1217	L	0.27053	0.805	0.09310	N	1	B;P	0.43352	0.216;0.804	B;B	0.25614	0.017;0.062	T	0.56378	-0.7989	9	0.38643	T	0.18	.	8.059	0.30623	0.0:0.1576:0.654:0.1884	rs34578955	265;212	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	265;265;212;212	ENSP00000348385:A265T;ENSP00000391328:A212T	ENSP00000348385:A265T	A	+	1	0	COL27A1	115970449	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.086000	0.14935	1.067000	0.40740	0.561000	0.74099	GCC		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
COL27A1	85301	broad.mit.edu	37	9	116972007	116972007	+	Splice_Site	SNP	G	G	A	rs369011505		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:116972007G>A	ENST00000356083.3	+	11	2712	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	MIR455_ENST00000384993.1_RNA	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	774	Collagen-like 3.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R774Q(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GATGGAGAACGAGTAAGTTTG	0.562																																					p.R774Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2321A	9						.	G	GLN/ARG	0,4406		0,0,2203	119.0	123.0	122.0		2321	4.4	1.0	9		122	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	COL27A1	NM_032888.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	774/1861	116972007	1,13005	2203	4300	6503	116011828	SO:0001630	splice_region_variant	85301	exon11			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2322+1G>A	9.37:g.116972007G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116011828	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556306	0.45487	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94184	-3.37;-3.2	4.36	4.36	0.52297	.	.	.	.	.	D	0.94420	0.8205	L	0.39566	1.225	0.50313	D	0.999863	D;D	0.89917	0.999;1.0	D;D	0.79784	0.92;0.993	D	0.93749	0.7057	9	0.41790	T	0.15	.	14.778	0.69743	0.0:0.0:1.0:0.0	.	774;670	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	Q	774;774;670;670	ENSP00000348385:R774Q;ENSP00000391328:R670Q	ENSP00000348385:R774Q	R	+	2	0	COL27A1	116011828	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.345000	0.79337	2.424000	0.82194	0.650000	0.86243	CGA		0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Missense_Mutation
DFNB31	25861	broad.mit.edu	37	9	117186618	117186618	+	Missense_Mutation	SNP	G	G	A	rs367810417		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117186618G>A	ENST00000362057.3	-	6	1580	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V	DFNB31_ENST00000265134.6_Missense_Mutation_p.A88V|DFNB31_ENST00000374059.3_Missense_Mutation_p.A120V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	471					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.A471V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTCACCTTGGCGTGGGTGTT	0.617																																					p.A471V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1412T	9						.						108.0	100.0	103.0					9																	117186618		2203	4300	6503	116226439	SO:0001583	missense	25861	exon6			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1412C>T	9.37:g.117186618G>A	ENSP00000354623:p.Ala471Val	Somatic		Capture	Illumina HiSeq	Phase_I	116226439	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216781	0.95104	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.10668	3.74;3.71;2.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.982;0.996	T	0.08371	-1.0725	10	0.66056	D	0.02	-39.8	19.744	0.96245	0.0:0.0:1.0:0.0	.	471;471;120	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	V	88;120;471	ENSP00000265134:A88V;ENSP00000363172:A120V;ENSP00000354623:A471V	ENSP00000265134:A88V	A	-	2	0	DFNB31	116226439	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.311000	0.78958	2.746000	0.94184	0.561000	0.74099	GCC		0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
C9orf91	203197	broad.mit.edu	37	9	117400943	117400943	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117400943T>C	ENST00000288502.4	+	8	1223	c.786T>C	c.(784-786)tgT>tgC	p.C262C	C9orf91_ENST00000374049.4_Silent_p.C263C			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	262						integral component of membrane (GO:0016021)		p.C262C(1)		endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GCAATTCTTGTCCTAACGAGA	0.582																																					p.C262C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T786C	9						.						103.0	88.0	93.0					9																	117400943		2203	4300	6503	116440764	SO:0001819	synonymous_variant	203197	exon8			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.786T>C	9.37:g.117400943T>C		Somatic		Capture	Illumina HiSeq	Phase_I	116440764	NM_153045	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	CCDS6808.1																																																																																				0.582	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045	
TNFSF15	9966	broad.mit.edu	37	9	117552801	117552801	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117552801G>A	ENST00000374045.4	-	4	800	c.687C>T	c.(685-687)aaC>aaT	p.N229N	TNFSF15_ENST00000374044.1_Silent_p.N152N|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	229					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.N229N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCACTGACGTTCACCATTA	0.448																																					p.N229N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687T	9						.						135.0	129.0	131.0					9																	117552801		2203	4300	6503	116592622	SO:0001819	synonymous_variant	9966	exon4			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.687C>T	9.37:g.117552801G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116592622	NM_005118	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	ENST00000374045.4	37	CCDS6809.1																																																																																				0.448	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118	
TNC	3371	broad.mit.edu	37	9	117808756	117808756	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117808756G>A	ENST00000350763.4	-	17	5469	c.5058C>T	c.(5056-5058)taC>taT	p.Y1686Y	TNC_ENST00000542877.1_Silent_p.Y1323Y|TNC_ENST00000346706.3_Silent_p.Y1140Y|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Silent_p.Y1504Y|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Silent_p.Y1322Y|TNC_ENST00000535648.1_Silent_p.Y1231Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1686	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.Y1686Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTCAATTTCGTATTCAGTAG	0.438																																					p.Y1686Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5058T	9						.						221.0	208.0	212.0					9																	117808756		2203	4300	6503	116848577	SO:0001819	synonymous_variant	3371	exon17				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5058C>T	9.37:g.117808756G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116848577	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057456	0.19907	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.81	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0566	0.58984	0.6891:0.0:0.3109:0.0	.	.	.	.	X	249	.	.	R	-	1	2	TNC	116848577	0.728000	0.28080	0.991000	0.47740	0.993000	0.82548	-0.012000	0.12699	-0.297000	0.08934	0.563000	0.77884	CGA		0.438	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
TNC	3371	broad.mit.edu	37	9	117848860	117848860	+	Missense_Mutation	SNP	G	G	A	rs573699675		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117848860G>A	ENST00000350763.4	-	3	1561	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	TNC_ENST00000542877.1_Missense_Mutation_p.R384C|TNC_ENST00000346706.3_Missense_Mutation_p.R384C|TNC_ENST00000341037.4_Missense_Mutation_p.R384C|TNC_ENST00000537320.1_Missense_Mutation_p.R384C|TNC_ENST00000423613.2_Missense_Mutation_p.R384C|TNC_ENST00000345230.3_Missense_Mutation_p.R384C|TNC_ENST00000340094.3_Missense_Mutation_p.R384C|TNC_ENST00000535648.1_Missense_Mutation_p.R384C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	384	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R384C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCGGCCACGATTGTGACAG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		22122	0.001		0.0	False		,,,				2504	0.0				p.R384C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1150T	9						.						125.0	109.0	115.0					9																	117848860		2203	4300	6503	116888681	SO:0001583	missense	3371	exon3				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1150C>T	9.37:g.117848860G>A	ENSP00000265131:p.Arg384Cys	Somatic		Capture	Illumina HiSeq	Phase_I	116888681	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793025	0.31685	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.362846	0.33346	N	0.005016	T	0.37461	0.1004	M	0.81614	2.55	0.41873	D	0.990282	D;D	0.89917	1.0;0.997	D;D	0.72338	0.977;0.927	T	0.17410	-1.0370	10	0.87932	D	0	.	18.6123	0.91290	0.0:0.0:1.0:0.0	.	384;384	E9PC84;P24821	.;TENA_HUMAN	C	384	ENSP00000344400:R384C;ENSP00000438152:R384C;ENSP00000344555:R384C;ENSP00000345861:R384C;ENSP00000265131:R384C;ENSP00000339553:R384C;ENSP00000411406:R384C;ENSP00000443478:R384C;ENSP00000442242:R384C	ENSP00000344400:R384C	R	-	1	0	TNC	116888681	0.961000	0.32948	0.113000	0.21522	0.004000	0.04260	2.605000	0.46283	2.712000	0.92718	0.563000	0.77884	CGT		0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PAPPA	5069	broad.mit.edu	37	9	118949776	118949776	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:118949776C>T	ENST00000328252.3	+	2	1128	c.759C>T	c.(757-759)atC>atT	p.I253I	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	253					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I253I(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGGCTACATCGAGCACTTCA	0.572																																					p.I253I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759T	9						.						98.0	97.0	97.0					9																	118949776		2203	4300	6503	117989597	SO:0001819	synonymous_variant	5069	exon2				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.759C>T	9.37:g.118949776C>T		Somatic		Capture	Illumina HiSeq	Phase_I	117989597	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																				0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PAPPA	5069	broad.mit.edu	37	9	118949846	118949846	+	Missense_Mutation	SNP	G	G	A	rs374755308		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:118949846G>A	ENST00000328252.3	+	2	1198	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	277	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A277T(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AACCCATGGCGCCCACACTGC	0.567																																					p.A277T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	9						.						109.0	102.0	104.0					9																	118949846		2203	4300	6503	117989667	SO:0001583	missense	5069	exon2				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.829G>A	9.37:g.118949846G>A	ENSP00000330658:p.Ala277Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117989667	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	0.108	-1.142202	0.01728	.	.	ENSG00000182752	ENST00000328252	T	0.01821	4.62	6.07	0.963	0.19649	.	0.996520	0.08145	N	0.991004	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49835	-0.8897	10	0.14252	T	0.57	-3.7441	4.3596	0.11196	0.117:0.4202:0.3317:0.1311	.	277	Q13219	PAPP1_HUMAN	T	277	ENSP00000330658:A277T	ENSP00000330658:A277T	A	+	1	0	PAPPA	117989667	0.280000	0.24249	0.924000	0.36721	0.156000	0.22039	0.444000	0.21661	-0.072000	0.12864	-2.034000	0.00421	GCC		0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PAPPA	5069	broad.mit.edu	37	9	118969855	118969855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:118969855G>T	ENST00000328252.3	+	3	1968	c.1599G>T	c.(1597-1599)tgG>tgT	p.W533C	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	533	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W533C(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGGCCATGGGACAAGGAGG	0.433																																					p.W533C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1599T	9						.						72.0	68.0	70.0					9																	118969855		2203	4300	6503	118009676	SO:0001583	missense	5069	exon3				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1599G>T	9.37:g.118969855G>T	ENSP00000330658:p.Trp533Cys	Somatic		Capture	Illumina HiSeq	Phase_I	118009676	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853275	0.91355	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02301	4.35	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.00256	-1.1873	10	0.87932	D	0	-13.3995	20.6439	0.99570	0.0:0.0:1.0:0.0	.	75;533	E7EMD3;Q13219	.;PAPP1_HUMAN	C	533;75	ENSP00000330658:W533C	ENSP00000330658:W533C	W	+	3	0	PAPPA	118009676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	TGG		0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	broad.mit.edu	37	9	119488163	119488163	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:119488163T>A	ENST00000313400.4	-	16	2793	c.2693A>T	c.(2692-2694)cAg>cTg	p.Q898L	ASTN2_ENST00000373996.3_Missense_Mutation_p.Q894L|ASTN2_ENST00000361209.2_Missense_Mutation_p.Q847L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	898					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Q847L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCATAGTGCTGGATGAAGGA	0.557																																					p.Q847L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2540T	9						.						172.0	155.0	161.0					9																	119488163		2203	4300	6503	118527984	SO:0001583	missense	23245	exon15			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2693A>T	9.37:g.119488163T>A	ENSP00000314038:p.Gln898Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118527984	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	T	18.31	3.596778	0.66332	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.056683	0.64402	D	0.000001	D	0.83825	0.5338	L	0.44542	1.39	0.51482	D	0.999924	P;P;P	0.47191	0.545;0.891;0.776	B;B;P	0.46362	0.15;0.315;0.514	T	0.83031	-0.0162	9	.	.	.	-24.5248	16.3798	0.83452	0.0:0.0:0.0:1.0	.	847;898;894	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	L	898;894;621;847	ENSP00000314038:Q898L;ENSP00000363108:Q894L;ENSP00000363098:Q621L;ENSP00000354504:Q847L	.	Q	-	2	0	ASTN2	118527984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.155000	0.71833	2.271000	0.75665	0.533000	0.62120	CAG		0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
TLR4	7099	broad.mit.edu	37	9	120474912	120474912	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:120474912A>C	ENST00000355622.6	+	3	607	c.506A>C	c.(505-507)gAg>gCg	p.E169A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E129A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	169					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E169A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AAATTACCTGAGTATTTTTCT	0.378																																					p.E169A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A506C	9						.						88.0	94.0	92.0					9																	120474912		2203	4300	6503	119514733	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.506A>C	9.37:g.120474912A>C	ENSP00000363089:p.Glu169Ala	Somatic		Capture	Illumina HiSeq	Phase_I	119514733	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	3.280	-0.147245	0.06627	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09538	2.97;2.97	5.08	-4.42	0.03579	.	1.492830	0.03754	N	0.257021	T	0.07234	0.0183	L	0.35723	1.085	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.36480	-0.9746	10	0.16896	T	0.51	.	2.9574	0.05881	0.4479:0.3135:0.1366:0.1019	.	169	O00206	TLR4_HUMAN	A	129;169	ENSP00000377997:E129A;ENSP00000363089:E169A	ENSP00000363089:E169A	E	+	2	0	TLR4	119514733	0.000000	0.05858	0.011000	0.14972	0.239000	0.25481	0.911000	0.28584	-0.342000	0.08363	-0.290000	0.09829	GAG		0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120475190	120475190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:120475190G>T	ENST00000355622.6	+	3	885	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E222*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	262					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E262*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGTTCTGGGAGAATTTAGAAA	0.348																																					p.E262X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G784T	9						.						78.0	86.0	83.0					9																	120475190		2203	4299	6502	119515011	SO:0001587	stop_gained	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.784G>T	9.37:g.120475190G>T	ENSP00000363089:p.Glu262*	Somatic		Capture	Illumina HiSeq	Phase_I	119515011	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576991	0.96565	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.68	4.59	0.56863	.	0.234714	0.37809	N	0.001922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.9739	0.53081	0.1483:0.0:0.8517:0.0	.	.	.	.	X	222;262	.	ENSP00000363089:E262X	E	+	1	0	TLR4	119515011	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.166000	0.50785	2.682000	0.91365	0.655000	0.94253	GAA		0.348	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120475675	120475675	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:120475675A>C	ENST00000355622.6	+	3	1370	c.1269A>C	c.(1267-1269)caA>caC	p.Q423H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q383H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	423					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q423H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GCTTAGAACAACTAGAACATC	0.368																																					p.Q423H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1269C	9						.						66.0	68.0	67.0					9																	120475675		2203	4300	6503	119515496	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1269A>C	9.37:g.120475675A>C	ENSP00000363089:p.Gln423His	Somatic		Capture	Illumina HiSeq	Phase_I	119515496	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239885	0.22711	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00976	5.48;5.48	5.7	-0.14	0.13456	.	1.173460	0.06027	N	0.652436	T	0.01592	0.0051	L	0.41632	1.29	0.09310	N	1	P	0.49783	0.928	P	0.51516	0.672	T	0.45614	-0.9249	10	0.56958	D	0.05	.	1.8841	0.03235	0.4181:0.1864:0.2849:0.1105	.	423	O00206	TLR4_HUMAN	H	383;423	ENSP00000377997:Q383H;ENSP00000363089:Q423H	ENSP00000363089:Q423H	Q	+	3	2	TLR4	119515496	0.000000	0.05858	0.056000	0.19401	0.558000	0.35554	-1.320000	0.02700	0.284000	0.22305	0.528000	0.53228	CAA		0.368	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120476405	120476405	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:120476405T>C	ENST00000355622.6	+	3	2100	c.1999T>C	c.(1999-2001)Tat>Cat	p.Y667H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Y627H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	667					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y667N(1)|p.Y667H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGCATAAAGTATGGTAGAGG	0.423																																					p.Y667H												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.T1999C	9						.						130.0	119.0	122.0					9																	120476405		2203	4300	6503	119516226	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1999T>C	9.37:g.120476405T>C	ENSP00000363089:p.Tyr667His	Somatic		Capture	Illumina HiSeq	Phase_I	119516226	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.349975	0.24426	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39592	1.38;1.07	6.03	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.420467	0.23127	N	0.051629	T	0.52821	0.1758	M	0.64404	1.975	0.09310	N	1	D	0.64830	0.994	D	0.64042	0.921	T	0.36744	-0.9735	10	0.30854	T	0.27	.	7.7045	0.28642	0.2008:0.067:0.0:0.7322	.	667	O00206	TLR4_HUMAN	H	627;667	ENSP00000377997:Y627H;ENSP00000363089:Y667H	ENSP00000363089:Y667H	Y	+	1	0	TLR4	119516226	0.009000	0.17119	0.655000	0.29622	0.148000	0.21650	1.021000	0.30040	1.095000	0.41419	-0.290000	0.09829	TAT		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
BRINP1	1620	broad.mit.edu	37	9	121929550	121929550	+	Missense_Mutation	SNP	G	G	A	rs541291613		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:121929550G>A	ENST00000265922.3	-	8	2559	c.2098C>T	c.(2098-2100)Cgg>Tgg	p.R700W	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	700					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R700W(1)									ATTCGGTCCCGAATATCCAAC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17313	0.001		0.0	False		,,,				2504	0.0				p.R700W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2098T	9						.						108.0	108.0	108.0					9																	121929550		2203	4300	6503	120969371	SO:0001583	missense	1620	exon8			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2098C>T	9.37:g.121929550G>A	ENSP00000265922:p.Arg700Trp	Somatic		Capture	Illumina HiSeq	Phase_I	120969371	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223117	0.58668	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.21191	2.02	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.35425	-0.9789	10	0.87932	D	0	-26.114	19.9695	0.97278	0.0:0.0:1.0:0.0	.	700	O60477	DBC1_HUMAN	W	700	ENSP00000265922:R700W	ENSP00000265922:R700W	R	-	1	2	DBC1	120969371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.203000	0.42752	2.799000	0.96334	0.650000	0.86243	CGG		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
CDK5RAP2	55755	broad.mit.edu	37	9	123199802	123199802	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123199802G>A	ENST00000349780.4	-	25	3905	c.3726C>T	c.(3724-3726)taC>taT	p.Y1242Y	CDK5RAP2_ENST00000360190.4_Silent_p.Y1242Y|CDK5RAP2_ENST00000360822.3_Silent_p.Y1210Y|CDK5RAP2_ENST00000359309.3_Silent_p.Y1201Y	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1242					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.Y1242Y(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTAATGAATCGTATCTGATAA	0.398																																					p.Y1242Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3726T	9						.						96.0	90.0	92.0					9																	123199802		2203	4300	6503	122239623	SO:0001819	synonymous_variant	55755	exon25			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3726C>T	9.37:g.123199802G>A		Somatic		Capture	Illumina HiSeq	Phase_I	122239623	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.398	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CDK5RAP2	55755	broad.mit.edu	37	9	123201968	123201968	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123201968A>T	ENST00000349780.4	-	24	3610	c.3431T>A	c.(3430-3432)aTt>aAt	p.I1144N	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1144	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.I1144N(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAAAACTGTAATTATGGCCTC	0.448											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I1144N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3431A	9						.						97.0	92.0	94.0					9																	123201968		2203	4300	6503	122241789	SO:0001583	missense	55755	exon24			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3431T>A	9.37:g.123201968A>T	ENSP00000343818:p.Ile1144Asn	Somatic	1524	Capture	Illumina HiSeq	Phase_I	122241789	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658271	0.67586	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.25250	3.77;3.7;3.8;3.7;2.1;1.81	5.67	4.47	0.54385	.	0.191701	0.36778	N	0.002418	T	0.39118	0.1066	L	0.55481	1.735	0.35102	D	0.765305	B;B;B;D;B;P	0.76494	0.135;0.225;0.225;0.999;0.144;0.587	B;B;B;D;B;B	0.68943	0.049;0.07;0.07;0.961;0.032;0.095	T	0.53143	-0.8480	10	0.87932	D	0	.	5.5798	0.17243	0.5228:0.2314:0.0:0.2458	.	154;913;1112;1144;1144;538	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	N	1112;1103;1144;1144;538;154;916	ENSP00000354065:I1112N;ENSP00000352258:I1103N;ENSP00000343818:I1144N;ENSP00000353317:I1144N;ENSP00000400395:I538N;ENSP00000409941:I154N	ENSP00000341695:I916N	I	-	2	0	CDK5RAP2	122241789	0.934000	0.31675	0.994000	0.49952	0.983000	0.72400	0.534000	0.23098	2.155000	0.67459	0.460000	0.39030	ATT		0.448	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
FBXW2	26190	broad.mit.edu	37	9	123538451	123538451	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123538451C>A	ENST00000608872.1	-	5	926	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.D182Y	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	247					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.D247Y(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						ACAGTGAAGTCTGCAGAGCCG	0.463																																					p.D247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739T	9						.						127.0	130.0	129.0					9																	123538451		2061	4217	6278	122578272	SO:0001583	missense	26190	exon5			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.739G>T	9.37:g.123538451C>A	ENSP00000476369:p.Asp247Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	122578272	NM_012164	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863346	0.91511	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;D;D	0.87578	0.889;0.998;0.998	D	0.98321	1.0528	10	0.87932	D	0	-8.764	16.5498	0.84470	0.0:1.0:0.0:0.0	.	182;247;247	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	Y	247;182;247;118	ENSP00000363036:D247Y;ENSP00000341161:D182Y;ENSP00000398662:D118Y	ENSP00000341161:D182Y	D	-	1	0	FBXW2	122578272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.571000	0.86741	0.563000	0.77884	GAC		0.463	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2		
FBXW2	26190	broad.mit.edu	37	9	123550529	123550529	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123550529C>A	ENST00000608872.1	-	3	195	c.8G>T	c.(7-9)aGa>aTa	p.R3I	FBXW2_ENST00000340778.5_Missense_Mutation_p.R3I	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	3					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.R3I(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AAAGTCCTTTCTCTCCATAAG	0.363																																					p.R3I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8T	9						.						59.0	58.0	58.0					9																	123550529		1843	4088	5931	122590350	SO:0001583	missense	26190	exon3			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.8G>T	9.37:g.123550529C>A	ENSP00000476369:p.Arg3Ile	Somatic		Capture	Illumina HiSeq	Phase_I	122590350	NM_012164	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753078	0.49362	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.80653	0.24;-1.4	5.75	5.75	0.90469	.	0.045709	0.85682	D	0.000000	T	0.63331	0.2502	N	0.08118	0	0.52099	D	0.999947	B;B;B	0.28880	0.226;0.165;0.072	B;B;B	0.26864	0.074;0.064;0.029	T	0.65245	-0.6215	10	0.66056	D	0.02	-8.0315	10.8138	0.46562	0.0:0.9147:0.0:0.0853	.	3;3;3	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	I	3	ENSP00000363036:R3I;ENSP00000341161:R3I	ENSP00000341161:R3I	R	-	2	0	FBXW2	122590350	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.806000	0.62569	2.719000	0.93026	0.655000	0.94253	AGA		0.363	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2		
PSMD5	5711	broad.mit.edu	37	9	123589062	123589062	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123589062G>A	ENST00000210313.3	-	6	869	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PSMD5_ENST00000373904.5_Silent_p.F222F|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	265					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)		p.F265F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGAAGCTAGAGAAAGGGTCTG	0.428																																					p.F265F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	9						.						87.0	83.0	84.0					9																	123589062		2203	4300	6503	122628883	SO:0001819	synonymous_variant	5711	exon6			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.795C>T	9.37:g.123589062G>A		Somatic		Capture	Illumina HiSeq	Phase_I	122628883	NM_005047	B4DZM8|Q15045|Q4VXG8	Silent	SNP	ENST00000210313.3	37	CCDS6824.1																																																																																				0.428	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047	
C5	727	broad.mit.edu	37	9	123758550	123758550	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123758550G>T	ENST00000223642.1	-	22	2848	c.2819C>A	c.(2818-2820)tCt>tAt	p.S940Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	940					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.S940Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AGTAACACCAGAATAGCTTTC	0.308																																					p.S940Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2819A	9						.						121.0	129.0	126.0					9																	123758550		2203	4300	6503	122798371	SO:0001583	missense	727	exon22			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2819C>A	9.37:g.123758550G>T	ENSP00000223642:p.Ser940Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	122798371	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863260	0.32884	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.33438	1.41	6.02	5.12	0.69794	.	0.366981	0.32343	N	0.006232	T	0.20901	0.0503	L	0.39898	1.24	0.29570	N	0.84998	B	0.21520	0.057	B	0.16722	0.016	T	0.19976	-1.0289	10	0.02654	T	1	.	11.6794	0.51448	0.0811:0.0:0.9189:0.0	.	940	P01031	CO5_HUMAN	Y	940;1011	ENSP00000223642:S940Y	ENSP00000223642:S940Y	S	-	2	0	C5	122798371	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.689000	0.46993	2.865000	0.98341	0.655000	0.94253	TCT		0.308	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
CNTRL	11064	broad.mit.edu	37	9	123850646	123850646	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123850646G>T	ENST00000373855.1	+	3	302	c.42G>T	c.(40-42)aaG>aaT	p.K14N	CNTRL_ENST00000238341.5_Missense_Mutation_p.K14N|CNTRL_ENST00000373865.2_Missense_Mutation_p.K14N			Q7Z7A1	CNTRL_HUMAN	centriolin	14					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.K14N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCAAAGCAAAGATACCATCAT	0.358																																					p.K14N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G42T	9						.						142.0	126.0	131.0					9																	123850646		2203	4300	6503	122890467	SO:0001583	missense	11064	exon1			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.42G>T	9.37:g.123850646G>T	ENSP00000362962:p.Lys14Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122890467	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125484	0.20959	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.27720	1.65;1.65	5.78	3.89	0.44902	.	.	.	.	.	T	0.30198	0.0757	L	0.57536	1.79	0.28651	N	0.906648	B	0.10296	0.003	B	0.08055	0.003	T	0.19549	-1.0302	9	0.54805	T	0.06	.	9.2728	0.37681	0.0785:0.1437:0.7778:0.0	.	14	Q7Z7A1	CNTRL_HUMAN	N	14	ENSP00000362962:K14N;ENSP00000238341:K14N	ENSP00000238341:K14N	K	+	3	2	CNTRL	122890467	0.913000	0.31002	0.923000	0.36655	0.218000	0.24690	1.057000	0.30492	1.403000	0.46800	0.643000	0.83706	AAG		0.358	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
CNTRL	11064	broad.mit.edu	37	9	123903726	123903726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:123903726C>A	ENST00000373855.1	+	18	2811	c.2551C>A	c.(2551-2553)Ctt>Att	p.L851I	CNTRL_ENST00000238341.5_Missense_Mutation_p.L851I|CNTRL_ENST00000373847.1_Missense_Mutation_p.L299I|CNTRL_ENST00000373850.1_Missense_Mutation_p.L299I			Q7Z7A1	CNTRL_HUMAN	centriolin	851					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.L851I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAGTGAAATTCTTGCACGCTC	0.418																																					p.L851I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2551A	9						.						87.0	85.0	85.0					9																	123903726		2203	4300	6503	122943547	SO:0001583	missense	11064	exon16			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2551C>A	9.37:g.123903726C>A	ENSP00000362962:p.Leu851Ile	Somatic		Capture	Illumina HiSeq	Phase_I	122943547	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105111	0.77096	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.46	4.55	0.56014	.	.	.	.	.	T	0.66346	0.2780	L	0.32530	0.975	0.33719	D	0.616756	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.83275	0.938;0.996;0.991	T	0.74064	-0.3785	9	0.39692	T	0.17	.	15.6113	0.76721	0.0:0.862:0.138:0.0	.	851;851;851	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	I	851;851;851;333;299;299	ENSP00000362962:L851I;ENSP00000238341:L851I;ENSP00000362956:L299I;ENSP00000362953:L299I	ENSP00000238341:L851I	L	+	1	0	CNTRL	122943547	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	3.726000	0.54977	1.418000	0.47098	0.655000	0.94253	CTT		0.418	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
TTLL11	158135	broad.mit.edu	37	9	124751549	124751549	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:124751549G>A	ENST00000373776.3	-	4	1651	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Silent_p.I488I	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	488	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.I488I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GAGTCAGCGCGATGACCGTCT	0.537																																					p.I488I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464T	9						.						142.0	133.0	136.0					9																	124751549		2203	4300	6503	123791370	SO:0001819	synonymous_variant	158135	exon4			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1464C>T	9.37:g.124751549G>A		Somatic		Capture	Illumina HiSeq	Phase_I	123791370	NM_001139442		Silent	SNP	ENST00000373776.3	37	CCDS6834.2																																																																																				0.537	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
MORN5	254956	broad.mit.edu	37	9	124932010	124932010	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:124932010G>T	ENST00000373764.3	+	3	344	c.282G>T	c.(280-282)gaG>gaT	p.E94D	MORN5_ENST00000536616.1_Missense_Mutation_p.E94D|MORN5_ENST00000486801.1_Intron	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	94								p.E94D(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTTACACAGAGATCCTCAATG	0.488																																					p.E94D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282T	9						.						158.0	132.0	141.0					9																	124932010		2203	4300	6503	123971831	SO:0001583	missense	254956	exon3			AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.282G>T	9.37:g.124932010G>T	ENSP00000362869:p.Glu94Asp	Somatic		Capture	Illumina HiSeq	Phase_I	123971831	NM_198469	B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102685	0.56183	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.41758	0.99;0.99;0.99	5.57	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.92026	3.265	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.70554	-0.4840	10	0.62326	D	0.03	-14.7883	8.0959	0.30829	0.2725:0.0:0.7275:0.0	.	94;94	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	D	94;94;78	ENSP00000362869:E94D;ENSP00000437483:E94D;ENSP00000409949:E78D	ENSP00000362869:E94D	E	+	3	2	MORN5	123971831	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	1.606000	0.36826	1.336000	0.45506	0.485000	0.47835	GAG		0.488	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469	
PTGS1	5742	broad.mit.edu	37	9	125141147	125141147	+	Missense_Mutation	SNP	G	G	A	rs10306140	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125141147G>A	ENST00000362012.2	+	5	451	c.446G>A	c.(445-447)cGt>cAt	p.R149H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R149H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R40H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R124H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	149			R -> L (in dbSNP:rs10306140). {ECO:0000269|Ref.8}.		arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R149H(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TATTACACTCGTATTCTGCCC	0.537																																					p.R149H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	9						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	127.0	110.0	116.0		446,446	4.7	0.1	9	dbSNP_119	116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTGS1	NM_000962.2,NM_080591.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	149/600,149/563	125141147	1,13005	2203	4300	6503	124180968	SO:0001583	missense	5742	exon5			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.446G>A	9.37:g.125141147G>A	ENSP00000354612:p.Arg149His	Somatic		Capture	Illumina HiSeq	Phase_I	124180968	NM_000962	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782392	0.90282	0.0	1.16E-4	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.59	4.69	0.59074	.	0.049889	0.85682	D	0.000000	D	0.92916	0.7746	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94323	0.7555	10	0.87932	D	0	-12.8204	13.5488	0.61719	0.0744:0.0:0.9256:0.0	.	124;149;149	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	124;149;149;40	ENSP00000437709:R124H;ENSP00000354612:R149H;ENSP00000223423:R149H;ENSP00000362802:R40H	ENSP00000223423:R149H	R	+	2	0	PTGS1	124180968	1.000000	0.71417	0.124000	0.21820	0.938000	0.57974	7.918000	0.87506	1.370000	0.46153	0.655000	0.94253	CGT		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
OR1J1	347168	broad.mit.edu	37	9	125239278	125239278	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125239278C>T	ENST00000259357.2	-	1	957	c.928G>A	c.(928-930)Gca>Aca	p.A310T	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A310T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						tgagccactgcgcctgaccTA	0.493																																					p.A310T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	9						.						55.0	51.0	52.0					9																	125239278		2203	4300	6503	124279099	SO:0001583	missense	347168	exon1			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.928G>A	9.37:g.125239278C>T	ENSP00000259357:p.Ala310Thr	Somatic		Capture	Illumina HiSeq	Phase_I	124279099	NM_001004451	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	C	2.679	-0.275770	0.05679	.	.	ENSG00000136834	ENST00000259357	T	0.10477	2.87	0.407	-0.751	0.11076	.	169.003000	0.00604	U	0.000393	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.29731	-1.0002	9	0.10902	T	0.67	.	.	.	.	.	310	Q8NGS3	OR1J1_HUMAN	T	310	ENSP00000259357:A310T	ENSP00000259357:A310T	A	-	1	0	OR1J1	124279099	0.001000	0.12720	0.007000	0.13788	0.049000	0.14656	-0.642000	0.05427	-0.439000	0.07222	0.184000	0.17185	GCA		0.493	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1		
OR1N1	138883	broad.mit.edu	37	9	125289270	125289270	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125289270G>T	ENST00000304880.2	-	1	302	c.303C>A	c.(301-303)ttC>ttA	p.F101L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F101L(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACATCAGAAAGAAATACATTT	0.493																																					p.F101L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C303A	9						.						92.0	89.0	90.0					9																	125289270		2203	4300	6503	124329091	SO:0001583	missense	138883	exon1			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.303C>A	9.37:g.125289270G>T	ENSP00000306974:p.Phe101Leu	Somatic		Capture	Illumina HiSeq	Phase_I	124329091	NM_012363	A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369431	0.61624	.	.	ENSG00000171505	ENST00000304880	T	0.00495	6.99	3.89	-0.409	0.12378	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	U	0.002280	T	0.00384	0.0012	L	0.46157	1.445	0.09310	N	0.999999	B	0.26318	0.146	B	0.22601	0.04	T	0.48958	-0.8988	10	0.72032	D	0.01	.	4.1621	0.10289	0.3689:0.0:0.472:0.159	.	101	Q8NGS0	OR1N1_HUMAN	L	101	ENSP00000306974:F101L	ENSP00000306974:F101L	F	-	3	2	OR1N1	124329091	0.640000	0.27243	0.057000	0.19452	0.977000	0.68977	0.147000	0.16202	0.014000	0.14944	0.545000	0.68477	TTC		0.493	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
OR1N2	138882	broad.mit.edu	37	9	125315454	125315454	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125315454A>C	ENST00000373688.2	+	1	64	c.6A>C	c.(4-6)gaA>gaC	p.E2D		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2D(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GACACATGGAAGGTTTTTATC	0.403																																					p.E2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6C	9						.						81.0	84.0	83.0					9																	125315454		2203	4300	6503	124355275	SO:0001583	missense	138882	exon1				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.6A>C	9.37:g.125315454A>C	ENSP00000362792:p.Glu2Asp	Somatic		Capture	Illumina HiSeq	Phase_I	124355275	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394723	0.25205	.	.	ENSG00000171501	ENST00000373688	T	0.01455	4.87	3.7	-7.39	0.01402	.	.	.	.	.	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47262	-0.9131	9	0.38643	T	0.18	.	4.0191	0.09657	0.1153:0.0978:0.401:0.3859	.	2	Q8NGR9	OR1N2_HUMAN	D	2	ENSP00000362792:E2D	ENSP00000362792:E2D	E	+	3	2	OR1N2	124355275	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.097000	0.15168	-2.646000	0.00426	-0.278000	0.10074	GAA		0.403	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
OR1N2	138882	broad.mit.edu	37	9	125316108	125316108	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125316108C>A	ENST00000373688.2	+	1	718	c.660C>A	c.(658-660)ggC>ggA	p.G220G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G220G(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACCATGGGCTTGCTGTTCC	0.507																																					p.G220G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660A	9						.						274.0	250.0	258.0					9																	125316108		2203	4300	6503	124355929	SO:0001819	synonymous_variant	138882	exon1				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.660C>A	9.37:g.125316108C>A		Somatic		Capture	Illumina HiSeq	Phase_I	124355929	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	CCDS35123.1																																																																																				0.507	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
OR1L8	138881	broad.mit.edu	37	9	125330177	125330177	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125330177A>G	ENST00000304865.2	-	1	661	c.580T>C	c.(580-582)Ttt>Ctt	p.F194L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F194L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCATTGACAAATATGGAAGAG	0.428																																					p.F194L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T580C	9						.						90.0	79.0	83.0					9																	125330177		2203	4300	6503	124369998	SO:0001583	missense	138881	exon1				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.580T>C	9.37:g.125330177A>G	ENSP00000306607:p.Phe194Leu	Somatic		Capture	Illumina HiSeq	Phase_I	124369998	NM_001004454	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	A	5.138	0.211054	0.09757	.	.	ENSG00000171496	ENST00000304865	T	0.00137	8.68	4.49	0.907	0.19321	GPCR, rhodopsin-like superfamily (1);	0.471504	0.17872	N	0.159142	T	0.00073	0.0002	N	0.11698	0.16	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.01692	-1.1294	10	0.13853	T	0.58	-6.3325	8.4629	0.32938	0.7436:0.0:0.2564:0.0	.	194	Q8NGR8	OR1L8_HUMAN	L	194	ENSP00000306607:F194L	ENSP00000306607:F194L	F	-	1	0	OR1L8	124369998	0.000000	0.05858	0.015000	0.15790	0.813000	0.45954	-2.226000	0.01211	0.360000	0.24265	0.369000	0.22263	TTT		0.428	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1		
OR1L3	26735	broad.mit.edu	37	9	125438291	125438291	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125438291G>T	ENST00000304820.2	+	1	977	c.883G>T	c.(883-885)Gac>Tac	p.D295Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D295Y(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAGAAACAAAGACATGAAACG	0.383																																					p.D295Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883T	9						.						69.0	65.0	67.0					9																	125438291		2203	4300	6503	124478112	SO:0001583	missense	26735	exon1				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.883G>T	9.37:g.125438291G>T	ENSP00000302863:p.Asp295Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124478112	NM_001005234	B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957434	0.73902	.	.	ENSG00000171481	ENST00000304820	T	0.40476	1.03	4.07	4.07	0.47477	.	0.328901	0.21545	U	0.072840	T	0.43233	0.1238	N	0.08118	0	0.40721	D	0.982661	D	0.71674	0.998	D	0.65987	0.94	T	0.57015	-0.7883	10	0.72032	D	0.01	-9.7805	15.7314	0.77807	0.0:0.0:1.0:0.0	.	295	Q8NH93	OR1L3_HUMAN	Y	295	ENSP00000302863:D295Y	ENSP00000302863:D295Y	D	+	1	0	OR1L3	124478112	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.895000	0.92512	2.310000	0.77875	0.573000	0.79308	GAC		0.383	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1		
OR1K1	392392	broad.mit.edu	37	9	125562440	125562440	+	Silent	SNP	C	C	T	rs558352646		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125562440C>T	ENST00000277309.2	+	1	71	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F13F(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GAATCTCATTCGTTTTATTGG	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19351	0.0		0.0	False		,,,				2504	0.0				p.F13F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C39T	9						.						72.0	70.0	71.0					9																	125562440		2203	4300	6503	124602261	SO:0001819	synonymous_variant	392392	exon1			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.39C>T	9.37:g.125562440C>T		Somatic		Capture	Illumina HiSeq	Phase_I	124602261	NM_080859	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																				0.527	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
RABGAP1	23637	broad.mit.edu	37	9	125852118	125852118	+	Missense_Mutation	SNP	G	G	A	rs117178690		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125852118G>A	ENST00000373647.4	+	20	2640	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	RABGAP1_ENST00000373643.5_Missense_Mutation_p.E175K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	836					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.E764K(1)|p.E836K(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGACCCCATCGAGCGATTTGA	0.423																																					p.E836K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2506A	9						.	G	LYS/GLU	0,4406		0,0,2203	94.0	89.0	90.0		2506	5.1	1.0	9	dbSNP_133	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	RABGAP1	NM_012197.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	836/1070	125852118	1,13005	2203	4300	6503	124891939	SO:0001583	missense	23637	exon20			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2506G>A	9.37:g.125852118G>A	ENSP00000362751:p.Glu836Lys	Somatic		Capture	Illumina HiSeq	Phase_I	124891939	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.09	3.546212	0.65198	0.0	1.16E-4	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.18960	3.35;2.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.38838	1.175	0.80722	D	1	P	0.34462	0.454	B	0.23852	0.049	T	0.04360	-1.0957	10	0.24483	T	0.36	-21.8587	18.3835	0.90459	0.0:0.0:1.0:0.0	.	836	Q9Y3P9	RBGP1_HUMAN	K	836;175	ENSP00000362751:E836K;ENSP00000362747:E175K	ENSP00000362747:E175K	E	+	1	0	RABGAP1	124891939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.391000	0.97249	2.665000	0.90641	0.655000	0.94253	GAG		0.423	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
RABGAP1	23637	broad.mit.edu	37	9	125861055	125861055	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125861055C>A	ENST00000373647.4	+	23	2929	c.2795C>A	c.(2794-2796)tCt>tAt	p.S932Y	RABGAP1_ENST00000373643.5_Missense_Mutation_p.S271Y	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	932					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.S860Y(1)|p.S932Y(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AAAAACAGTTCTATCATTGGT	0.438																																					p.S932Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2795A	9						.						90.0	94.0	92.0					9																	125861055		2203	4300	6503	124900876	SO:0001583	missense	23637	exon23			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2795C>A	9.37:g.125861055C>A	ENSP00000362751:p.Ser932Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124900876	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705609	0.89018	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.18338	3.29;2.22	5.22	5.22	0.72569	.	0.062472	0.64402	D	0.000003	T	0.24431	0.0592	L	0.43152	1.355	0.80722	D	1	D	0.57257	0.979	P	0.47981	0.563	T	0.00855	-1.1539	10	0.72032	D	0.01	-15.0285	18.9705	0.92713	0.0:1.0:0.0:0.0	.	932	Q9Y3P9	RBGP1_HUMAN	Y	932;271	ENSP00000362751:S932Y;ENSP00000362747:S271Y	ENSP00000362747:S271Y	S	+	2	0	RABGAP1	124900876	1.000000	0.71417	0.987000	0.45799	0.901000	0.52897	6.821000	0.75272	2.715000	0.92844	0.655000	0.94253	TCT		0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
PPP6C	5537	broad.mit.edu	37	9	127915929	127915929	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:127915929T>G	ENST00000373547.4	-	6	651	c.552A>C	c.(550-552)gaA>gaC	p.E184D	PPP6C_ENST00000373546.3_Missense_Mutation_p.E37D|PPP6C_ENST00000415905.1_Missense_Mutation_p.E162D|PPP6C_ENST00000451402.1_Missense_Mutation_p.E221D	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	184					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E184D(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TATGAGGAATTTCCTGATTCC	0.433																																					p.E162D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A486C	9						.						92.0	82.0	85.0					9																	127915929		2203	4300	6503	126955750	SO:0001583	missense	5537	exon5			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.552A>C	9.37:g.127915929T>G	ENSP00000362648:p.Glu184Asp	Somatic		Capture	Illumina HiSeq	Phase_I	126955750	NM_001123369	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652058	0.88056	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.74258	2.255	0.80722	D	1	D;P;D	0.63880	0.993;0.941;0.985	D;D;D	0.66716	0.946;0.927;0.927	T	0.72686	-0.4218	10	0.87932	D	0	-32.5743	9.7101	0.40240	0.0:0.0768:0.0:0.9232	.	162;221;184	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	D	184;221;162;37	ENSP00000362648:E184D;ENSP00000392147:E221D;ENSP00000411744:E162D;ENSP00000362647:E37D	ENSP00000362647:E37D	E	-	3	2	PPP6C	126955750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.632000	0.24583	2.199000	0.70637	0.477000	0.44152	GAA		0.433	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294	
GAPVD1	26130	broad.mit.edu	37	9	128099688	128099688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:128099688C>T	ENST00000495955.1	+	17	2985	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*	GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R873*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R878*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R926*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R878*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	899					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R926*(2)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						gAGACTAGTTCGAAGCAGGAG	0.507																																					p.R926X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C2776T	9						.						82.0	80.0	81.0					9																	128099688		2203	4300	6503	127139509	SO:0001587	stop_gained	26130	exon16				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2695C>T	9.37:g.128099688C>T	ENSP00000419063:p.Arg899*	Somatic		Capture	Illumina HiSeq	Phase_I	127139509	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.594972|8.594972	0.98877|0.98877	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80116	.|0.4564	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77003	.|-0.2749	.|3	0.07813|.	T|.	0.8|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	899;926;899;873;878;899;899;899;878|735	.|.	ENSP00000265956:R873X|.	R|S	+|+	1|2	2|0	GAPVD1|GAPVD1	127139509|127139509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.641000|5.641000	0.67881|0.67881	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
PBX3	5090	broad.mit.edu	37	9	128510865	128510865	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:128510865G>A	ENST00000373489.5	+	2	253	c.237G>A	c.(235-237)gcG>gcA	p.A79A	PBX3_ENST00000373483.2_5'UTR|PBX3_ENST00000447726.2_Silent_p.A4A|PBX3_ENST00000373487.4_Silent_p.A79A|RP11-423C15.3_ENST00000606827.1_lincRNA|PBX3_ENST00000342287.5_Silent_p.A79A	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	79					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A79A(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TGAAACCAGCGCTCTTCAGCG	0.507																																					p.A79A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G237A	9						.						163.0	154.0	157.0					9																	128510865		2203	4300	6503	127550686	SO:0001819	synonymous_variant	5090	exon2				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.237G>A	9.37:g.128510865G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127550686	NM_006195	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	CCDS6865.1																																																																																				0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1		
PBX3	5090	broad.mit.edu	37	9	128728186	128728186	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:128728186C>T	ENST00000373489.5	+	9	1305	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.S249L|PBX3_ENST00000447726.2_Missense_Mutation_p.S355L|PBX3_ENST00000373487.4_Missense_Mutation_p.S451L|PBX3_ENST00000342287.5_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	430					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S430L(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGTGTGCACTCGGATACCTCT	0.478																																					p.S430L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289T	9						.						168.0	149.0	156.0					9																	128728186		2203	4300	6503	127768007	SO:0001583	missense	5090	exon9				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1289C>T	9.37:g.128728186C>T	ENSP00000362588:p.Ser430Leu	Somatic		Capture	Illumina HiSeq	Phase_I	127768007	NM_006195	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136454	0.77662	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.92099	-2.75;1.33;-2.89;-2.97	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.78801	2.425	0.80722	D	1	D;P	0.76494	0.999;0.947	D;B	0.77557	0.99;0.368	D	0.95968	0.8967	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	451;430	Q5JS98;P40426	.;PBX3_HUMAN	L	430;451;249;355	ENSP00000362588:S430L;ENSP00000362586:S451L;ENSP00000362582:S249L;ENSP00000387456:S355L	ENSP00000362582:S249L	S	+	2	0	PBX3	127768007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TCG		0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1		
ANGPTL2	23452	broad.mit.edu	37	9	129853967	129853967	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:129853967C>A	ENST00000373425.3	-	4	1881	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.D120Y	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	422	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.D422Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ACATCATGATCTCTGTCCAGG	0.552																																					p.D422Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264T	9						.						208.0	206.0	207.0					9																	129853967		2203	4300	6503	128893788	SO:0001583	missense	23452	exon4			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1264G>T	9.37:g.129853967C>A	ENSP00000362524:p.Asp422Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	128893788	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561721	0.86335	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.86562	-2.14;-2.14	5.2	5.2	0.72013	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98552	1.0637	10	0.87932	D	0	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	422	Q9UKU9	ANGL2_HUMAN	Y	422;120	ENSP00000362524:D422Y;ENSP00000362516:D120Y	ENSP00000362516:D120Y	D	-	1	0	ANGPTL2	128893788	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.776000	0.85560	2.574000	0.86865	0.655000	0.94253	GAT		0.552	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
GARNL3	84253	broad.mit.edu	37	9	130106536	130106536	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130106536T>G	ENST00000373387.4	+	15	1626	c.1274T>G	c.(1273-1275)tTt>tGt	p.F425C	GARNL3_ENST00000435213.2_Missense_Mutation_p.F403C|GARNL3_ENST00000314904.5_Missense_Mutation_p.F425C	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	425					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.F407C(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGACGATCTTTTAGTGATGTC	0.418																																					p.F425C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1274G	9						.						124.0	135.0	131.0					9																	130106536		2203	4300	6503	129146357	SO:0001583	missense	84253	exon15			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1274T>G	9.37:g.130106536T>G	ENSP00000362485:p.Phe425Cys	Somatic		Capture	Illumina HiSeq	Phase_I	129146357	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811536	0.90707	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.88354	-2.37;-2.33;-2.37	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	L	0.59436	1.845	0.80722	D	1	D;D;D	0.69078	0.992;0.996;0.997	P;P;P	0.60012	0.789;0.867;0.781	D	0.91414	0.5153	9	.	.	.	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	425;403;366	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	C	403;425;425	ENSP00000396205:F403C;ENSP00000313970:F425C;ENSP00000362485:F425C	.	F	+	2	0	GARNL3	129146357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.591000	0.82666	2.213000	0.71641	0.533000	0.62120	TTT		0.418	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
FAM129B	64855	broad.mit.edu	37	9	130289525	130289525	+	Missense_Mutation	SNP	C	C	T	rs549746967		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130289525C>T	ENST00000373312.3	-	3	476	c.263G>A	c.(262-264)cGc>cAc	p.R88H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R75H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	88	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R88H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGCTGAAGCGGTTTCTCCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16469	0.001		0.0	False		,,,				2504	0.0				p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	9						.						84.0	78.0	80.0					9																	130289525		2203	4300	6503	129329346	SO:0001583	missense	64855	exon3			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.263G>A	9.37:g.130289525C>T	ENSP00000362409:p.Arg88His	Somatic		Capture	Illumina HiSeq	Phase_I	129329346	NM_022833	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430221	0.83776	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.28255	1.62;1.62	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053939	0.85682	D	0.000000	T	0.33673	0.0871	M	0.69358	2.11	0.58432	D	0.999999	P;P	0.38992	0.653;0.653	B;B	0.32624	0.096;0.149	T	0.31724	-0.9933	10	0.87932	D	0	-23.8378	16.9381	0.86208	0.0:1.0:0.0:0.0	.	75;88	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	75;88	ENSP00000362411:R75H;ENSP00000362409:R88H	ENSP00000362409:R88H	R	-	2	0	FAM129B	129329346	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.155000	0.77445	2.598000	0.87819	0.561000	0.74099	CGC		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
SH2D3C	10044	broad.mit.edu	37	9	130513541	130513541	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130513541C>A	ENST00000314830.8	-	4	707	c.594G>T	c.(592-594)gaG>gaT	p.E198D	SH2D3C_ENST00000373277.4_Missense_Mutation_p.E41D|SH2D3C_ENST00000373276.3_Missense_Mutation_p.E130D|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E38D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E40D|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	198					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.E198D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTGGAGTTTCTCTGGCGATG	0.532																																					p.E38D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G114T	9						.						146.0	123.0	131.0					9																	130513541		2203	4300	6503	129553362	SO:0001583	missense	10044	exon2			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.594G>T	9.37:g.130513541C>A	ENSP00000317817:p.Glu198Asp	Somatic		Capture	Illumina HiSeq	Phase_I	129553362	NM_001142534	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966905|3.966905	0.74131|0.74131	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380|ENST00000440630	T;T;T;T;T;T|.	0.39406|.	2.44;2.41;2.21;2.39;2.47;1.08|.	5.77|5.77	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57695|0.57695	0.2071|0.2071	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P;P;D;D;P|.	0.76494|.	0.876;0.876;0.999;0.998;0.924|.	P;P;D;D;D|.	0.78314|.	0.727;0.855;0.991;0.99;0.931|.	T|T	0.54754|0.54754	-0.8246|-0.8246	10|5	0.48119|.	T|.	0.1|.	-6.3363|-6.3363	11.9546|11.9546	0.52974|0.52974	0.0:0.8561:0.0:0.1439|0.0:0.8561:0.0:0.1439	.|.	38;198;130;41;40|.	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5|.	.;SH2D3_HUMAN;.;.;.|.	D|I	41;40;130;38;198;15|35	ENSP00000362374:E41D;ENSP00000388536:E40D;ENSP00000362373:E130D;ENSP00000362371:E38D;ENSP00000317817:E198D;ENSP00000413760:E15D|.	ENSP00000317817:E198D|.	E|R	-|-	3|2	2|0	SH2D3C|SH2D3C	129553362|129553362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.127000|3.127000	0.50484|0.50484	1.465000|1.465000	0.48006|0.48006	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.532	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
ENG	2022	broad.mit.edu	37	9	130587218	130587218	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130587218C>A	ENST00000373203.4	-	7	1252	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ENG_ENST00000344849.3_Missense_Mutation_p.E284D|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	284	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E284D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GAATGTTTTTCTCTGGAAAGA	0.567									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																												p.E284D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	9						.						85.0	92.0	89.0					9																	130587218		2203	4300	6503	129627039	SO:0001583	missense	2022	exon7	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.852G>T	9.37:g.130587218C>A	ENSP00000362299:p.Glu284Asp	Somatic		Capture	Illumina HiSeq	Phase_I	129627039	NM_001114753	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	c	3.060	-0.193470	0.06259	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.46063	0.88;1.46	4.22	-0.506	0.11989	.	1.570440	0.03577	N	0.229613	T	0.30854	0.0778	L	0.31294	0.92	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.16453	-1.0402	10	0.18710	T	0.47	-7.9349	8.8022	0.34916	0.0:0.4133:0.4865:0.1002	.	284;284	Q5T9B9;P17813	.;EGLN_HUMAN	D	284;284;284;102	ENSP00000362299:E284D;ENSP00000341917:E284D	ENSP00000341917:E284D	E	-	3	2	ENG	129627039	0.000000	0.05858	0.003000	0.11579	0.792000	0.44763	-1.582000	0.02117	0.045000	0.15804	0.450000	0.29827	GAG		0.567	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1		
ST6GALNAC6	30815	broad.mit.edu	37	9	130656910	130656910	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130656910T>C	ENST00000373146.1	-	4	357	c.178A>G	c.(178-180)Agc>Ggc	p.S60G	ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.S26G|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.S60G|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.S60G|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.S26G			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	60					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.S60G(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGTTGGAGCTGTAGAGGATG	0.597																																					p.S60G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A178G	9						.						142.0	133.0	136.0					9																	130656910		2203	4300	6503	129696731	SO:0001583	missense	30815	exon4			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.178A>G	9.37:g.130656910T>C	ENSP00000362239:p.Ser60Gly	Somatic		Capture	Illumina HiSeq	Phase_I	129696731	NM_013443	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474241	0.63737	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.49432	1.38;1.38;1.24;1.38;1.38;0.78	5.39	5.39	0.77823	.	0.239967	0.48767	D	0.000165	T	0.33644	0.0870	L	0.28740	0.885	0.80722	D	1	B;B	0.16802	0.015;0.019	B;B	0.22880	0.025;0.042	T	0.15723	-1.0427	10	0.22706	T	0.39	-25.1092	8.773	0.34745	0.1684:0.0:0.0:0.8316	.	26;60	Q969X2-2;Q969X2	.;SIA7F_HUMAN	G	60;26;60;26;60;26	ENSP00000362239:S60G;ENSP00000362234:S26G;ENSP00000362235:S60G;ENSP00000362237:S26G;ENSP00000291839:S60G;ENSP00000405326:S26G	ENSP00000291839:S60G	S	-	1	0	ST6GALNAC6	129696731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.052000	0.57420	2.032000	0.59987	0.533000	0.62120	AGC		0.597	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443	
SLC25A25	114789	broad.mit.edu	37	9	130860980	130860980	+	Missense_Mutation	SNP	C	C	A	rs374358411		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130860980C>A	ENST00000373064.5	+	1	398	c.135C>A	c.(133-135)ttC>ttA	p.F45L	SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373066.5_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373069.5_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	45					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.F45L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CCCAGGAATTCTCCACCTACC	0.567																																					p.F45L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C135A	9						.	C	,,,LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	101.0	97.0	98.0		,,,135	0.7	1.0	9		98	0,8600		0,0,4300	no	intron,intron,utr-5,missense	SLC25A25	NM_001006641.1,NM_001006642.1,NM_001006643.1,NM_052901.2	,,,22	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,,,	,,,45/470	130860980	1,13005	2203	4300	6503	129900801	SO:0001583	missense	114789	exon1			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.135C>A	9.37:g.130860980C>A	ENSP00000362155:p.Phe45Leu	Somatic		Capture	Illumina HiSeq	Phase_I	129900801	NM_052901	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980912	0.53827	2.27E-4	0.0	ENSG00000148339	ENST00000373064	T	0.55052	0.54	5.17	0.707	0.18139	EF-hand-like domain (1);	.	.	.	.	T	0.28928	0.0718	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26395	-1.0104	9	0.02654	T	1	.	9.209	0.37306	0.0:0.5149:0.0:0.4851	.	45	Q6KCM7	SCMC2_HUMAN	L	45	ENSP00000362155:F45L	ENSP00000362155:F45L	F	+	3	2	SLC25A25	129900801	0.995000	0.38212	0.998000	0.56505	0.991000	0.79684	0.419000	0.21247	-0.009000	0.14296	0.467000	0.42956	TTC		0.567	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901	
DNM1	1759	broad.mit.edu	37	9	130980892	130980892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:130980892G>T	ENST00000372923.3	+	3	359	c.267G>T	c.(265-267)aaG>aaT	p.K89N	DNM1_ENST00000341179.7_Missense_Mutation_p.K89N|DNM1_ENST00000475805.1_Missense_Mutation_p.K89N|DNM1_ENST00000393594.3_Missense_Mutation_p.K89N|DNM1_ENST00000486160.1_Missense_Mutation_p.K89N	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	89	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.K89N(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCAAGGGAAAGAAATTCACCG	0.592																																					p.K89N	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G267T	9						.						50.0	48.0	49.0					9																	130980892		2203	4300	6503	130020713	SO:0001583	missense	1759	exon3			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.267G>T	9.37:g.130980892G>T	ENSP00000362014:p.Lys89Asn	Somatic		Capture	Illumina HiSeq	Phase_I	130020713	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564784	0.86439	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	5.38	4.47	0.54385	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.86651	2.83	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.71414	0.973;0.821;0.97	D	0.98260	1.0498	10	0.72032	D	0.01	0.4547	10.8801	0.46933	0.1448:0.0:0.8552:0.0	.	89;89;89	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	89;89;89;84;89;89	ENSP00000419225:K89N;ENSP00000345680:K89N;ENSP00000362014:K89N;ENSP00000377219:K89N;ENSP00000420045:K89N	ENSP00000345680:K89N	K	+	3	2	DNM1	130020713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.688000	0.46984	2.517000	0.84864	0.462000	0.41574	AAG		0.592	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
DNM1	1759	broad.mit.edu	37	9	131010211	131010211	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131010211G>T	ENST00000372923.3	+	18	1994	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D	DNM1_ENST00000341179.7_Missense_Mutation_p.E634D|DNM1_ENST00000475805.1_Missense_Mutation_p.E634D|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Missense_Mutation_p.E634D|DNM1_ENST00000486160.1_Missense_Mutation_p.E634D	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	634					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.E634D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGGACAAAGAGAAAGTGAGTG	0.567																																					p.R634I	GBM(113;146 1575 2722 28670 29921)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1901T	9						.						190.0	184.0	186.0					9																	131010211		2203	4300	6503	130050032	SO:0001583	missense	1759	exon17			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1902G>T	9.37:g.131010211G>T	ENSP00000362014:p.Glu634Asp	Somatic		Capture	Illumina HiSeq	Phase_I	130050032	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627983	0.28978	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	4.09	3.19	0.36642	.	0.136358	0.26665	U	0.023132	T	0.78923	0.4360	N	0.08118	0	0.39378	D	0.966207	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.68500	-0.5392	10	0.12766	T	0.61	-6.5245	6.6891	0.23161	0.1033:0.2408:0.6559:0.0	.	634;634	Q05193;Q05193-3	DYN1_HUMAN;.	D	634;634;634;629;634;634;179	ENSP00000419225:E634D;ENSP00000345680:E634D;ENSP00000362014:E634D;ENSP00000377219:E634D;ENSP00000420045:E634D	ENSP00000345680:E634D	E	+	3	2	DNM1	130050032	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.454000	0.52986	1.074000	0.40909	-0.163000	0.13421	GAG		0.567	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
CERCAM	51148	broad.mit.edu	37	9	131190696	131190696	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131190696A>G	ENST00000372838.4	+	6	1280	c.882A>G	c.(880-882)gcA>gcG	p.A294A	CERCAM_ENST00000372842.1_Silent_p.A216A	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	294					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.A216A(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCTTAGAAGCACTAGGTGAGG	0.607																																					p.A294A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A882G	9						.						80.0	64.0	69.0					9																	131190696		2203	4300	6503	130230517	SO:0001819	synonymous_variant	51148	exon6			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.882A>G	9.37:g.131190696A>G		Somatic		Capture	Illumina HiSeq	Phase_I	130230517	NM_016174	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	CCDS6901.2																																																																																				0.607	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174	
SPTAN1	6709	broad.mit.edu	37	9	131346768	131346768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131346768C>T	ENST00000372731.4	+	17	2511	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R801*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R801*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	801					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)	p.R801*(1)		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						GACGTGGATTCGAGAGAAAGA	0.547																																					p.R801X	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2401T	9						.						58.0	56.0	57.0					9																	131346768		2203	4300	6503	130386589	SO:0001587	stop_gained	6709	exon17			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.2401C>T	9.37:g.131346768C>T	ENSP00000361816:p.Arg801*	Somatic		Capture	Illumina HiSeq	Phase_I	130386589	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	40	8.383592	0.98786	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.63	3.77	0.43336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.372	0.55260	0.468:0.532:0.0:0.0	.	.	.	.	X	801	.	ENSP00000350882:R801X	R	+	1	2	SPTAN1	130386589	1.000000	0.71417	0.948000	0.38648	0.933000	0.57130	1.699000	0.37804	0.712000	0.32039	0.561000	0.74099	CGA		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
SPTAN1	6709	broad.mit.edu	37	9	131394744	131394744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131394744G>T	ENST00000372731.4	+	53	7089	c.6979G>T	c.(6979-6981)Gaa>Taa	p.E2327*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E2332*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E2332*|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2327	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)	p.E2327*(1)		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						GGCCCTCAAAGAATTCAGCAT	0.552																																					p.E2307X	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6919T	9						.						55.0	52.0	53.0					9																	131394744		2203	4300	6503	130434565	SO:0001587	stop_gained	6709	exon52			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.6979G>T	9.37:g.131394744G>T	ENSP00000361816:p.Glu2327*	Somatic		Capture	Illumina HiSeq	Phase_I	130434565	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	48	14.290899	0.99788	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3425	0.90311	0.0:0.0:1.0:0.0	.	.	.	.	X	2332;2327;2332;2307	.	ENSP00000350882:E2332X	E	+	1	0	SPTAN1	130434565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.465000	0.97660	2.323000	0.78572	0.462000	0.41574	GAA		0.552	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
C9orf114	51490	broad.mit.edu	37	9	131591418	131591418	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131591418C>A	ENST00000361256.5	-	2	93	c.53G>T	c.(52-54)aGg>aTg	p.R18M		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	18							poly(A) RNA binding (GO:0044822)	p.R18M(1)		kidney(2)|large_intestine(4)|ovary(1)	7						CCACTCAATCCTTTGGCCGTG	0.532																																					p.R18M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53T	9						.						191.0	160.0	170.0					9																	131591418		2203	4300	6503	130631239	SO:0001583	missense	51490	exon2				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.53G>T	9.37:g.131591418C>A	ENSP00000354812:p.Arg18Met	Somatic		Capture	Illumina HiSeq	Phase_I	130631239	NM_016390	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881710	0.72294	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24723	1.84	4.93	2.66	0.31614	.	0.133396	0.64402	D	0.000003	T	0.27454	0.0674	M	0.66939	2.045	0.40469	D	0.980329	P;P	0.50710	0.938;0.651	P;B	0.45946	0.498;0.121	T	0.08638	-1.0712	10	0.66056	D	0.02	-8.1799	4.7949	0.13267	0.0:0.6527:0.0:0.3473	.	18;18	E7ESY7;Q5T280	.;CI114_HUMAN	M	18	ENSP00000354812:R18M	ENSP00000354812:R18M	R	-	2	0	C9orf114	130631239	0.754000	0.28360	0.904000	0.35570	0.984000	0.73092	0.926000	0.28804	1.199000	0.43173	0.462000	0.41574	AGG		0.532	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390	
CCBL1	883	broad.mit.edu	37	9	131604965	131604965	+	Missense_Mutation	SNP	C	C	A	rs145639940	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131604965C>A	ENST00000302586.3	-	3	331	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	CCBL1_ENST00000320665.6_Missense_Mutation_p.D57Y|CCBL1_ENST00000436267.2_Missense_Mutation_p.D151Y|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	57					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.D57Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AGCATGAAGTCTCCACTGACA	0.567																																					p.D57Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169T	9						.						69.0	71.0	70.0					9																	131604965		2048	4197	6245	130644786	SO:0001583	missense	883	exon3			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.169G>T	9.37:g.131604965C>A	ENSP00000302227:p.Asp57Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	130644786	NM_001122672	Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752972	0.49362	.	.	ENSG00000171097	ENST00000302586;ENST00000372610;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084;ENST00000427720	D;D;D;D;D	0.90732	-2.72;-1.53;-2.72;-2.72;-2.72	6.07	3.24	0.37175	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.152025	0.64402	D	0.000014	D	0.92932	0.7751	M	0.71871	2.18	0.35768	D	0.820663	D;D;D;D;D	0.64830	0.994;0.989;0.983;0.989;0.989	P;P;P;P;P	0.60345	0.873;0.823;0.807;0.823;0.823	D	0.93805	0.7104	10	0.72032	D	0.01	-28.4877	10.1405	0.42732	0.0:0.7801:0.0:0.2199	.	151;57;57;57;57	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	Y	57;58;57;151;57;57;58	ENSP00000302227:D57Y;ENSP00000317342:D57Y;ENSP00000399415:D151Y;ENSP00000390377:D57Y;ENSP00000412402:D57Y	ENSP00000302227:D57Y	D	-	1	0	CCBL1	130644786	0.998000	0.40836	0.396000	0.26296	0.165000	0.22458	4.242000	0.58714	0.445000	0.26639	-0.136000	0.14681	GAC		0.567	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2		
NUP188	23511	broad.mit.edu	37	9	131755874	131755874	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:131755874G>A	ENST00000372577.2	+	27	2939	c.2918G>A	c.(2917-2919)cGa>cAa	p.R973Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	973					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R973Q(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGCAAGATCGATACTGGTGC	0.552																																					p.R973Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2918A	9						.						183.0	151.0	162.0					9																	131755874		2203	4300	6503	130795695	SO:0001583	missense	23511	exon27			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2918G>A	9.37:g.131755874G>A	ENSP00000361658:p.Arg973Gln	Somatic		Capture	Illumina HiSeq	Phase_I	130795695	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347709	0.41599	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30448	1.53	5.55	5.55	0.83447	.	0.101093	0.64402	D	0.000002	T	0.24890	0.0604	L	0.44542	1.39	0.40003	D	0.975184	B;P	0.44006	0.027;0.824	B;B	0.30855	0.007;0.121	T	0.06373	-1.0830	10	0.30854	T	0.27	-13.4909	18.8488	0.92218	0.0:0.0:1.0:0.0	.	306;973	E9PET9;Q5SRE5	.;NU188_HUMAN	Q	862;973	ENSP00000361658:R973Q	ENSP00000349125:R862Q	R	+	2	0	NUP188	130795695	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.497000	0.66924	2.767000	0.95098	0.655000	0.94253	CGA		0.552	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
MPDZ	8777	broad.mit.edu	37	9	13176160	13176160	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:13176160G>A	ENST00000319217.7	-	20	3153	c.2906C>T	c.(2905-2907)tCt>tTt	p.S969F	MPDZ_ENST00000447879.1_Missense_Mutation_p.S969F|MPDZ_ENST00000381015.4_Missense_Mutation_p.S969F|MPDZ_ENST00000381022.2_Missense_Mutation_p.S969F|MPDZ_ENST00000546205.1_Missense_Mutation_p.S969F|MPDZ_ENST00000536827.1_Missense_Mutation_p.S969F|MPDZ_ENST00000541718.1_Missense_Mutation_p.S969F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	969					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.S969F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGGTAGCACAGAAGGAAGTTC	0.353																																					p.S969F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2906T	9						.						95.0	78.0	83.0					9																	13176160		1850	4092	5942	13166160	SO:0001583	missense	8777	exon19			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2906C>T	9.37:g.13176160G>A	ENSP00000320006:p.Ser969Phe	Somatic		Capture	Illumina HiSeq	Phase_I	13166160	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	11.29	1.594761	0.28445	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11385	2.83;2.78;2.78;2.79;2.83;2.83;2.83	5.91	5.91	0.95273	.	0.163000	0.29307	N	0.012535	T	0.10121	0.0248	N	0.14661	0.345	0.44966	D	0.997989	P;P;P	0.39094	0.528;0.659;0.659	B;B;B	0.43701	0.116;0.248;0.428	T	0.09796	-1.0658	10	0.66056	D	0.02	.	12.7478	0.57291	0.0749:0.0:0.9251:0.0	.	969;969;969	B7ZMI4;O75970-3;O75970-2	.;.;.	F	969;969;969;969;969;969;919;969	ENSP00000320006:S969F;ENSP00000439807:S969F;ENSP00000370410:S969F;ENSP00000444151:S969F;ENSP00000415208:S969F;ENSP00000370403:S969F;ENSP00000446358:S969F	ENSP00000320006:S969F	S	-	2	0	MPDZ	13166160	0.589000	0.26807	0.068000	0.19968	0.616000	0.37450	3.661000	0.54503	2.802000	0.96397	0.655000	0.94253	TCT		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
TOR1A	1861	broad.mit.edu	37	9	132576387	132576387	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:132576387C>T	ENST00000351698.4	-	5	911	c.863G>A	c.(862-864)cGa>cAa	p.R288Q		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	288	Interaction with KLC1.		R -> Q (in DYT1; produces an enlarged perinuclear space). {ECO:0000269|PubMed:18477710}.		ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.R288Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTCATAGCCTCGGGACTGCAT	0.433																																					p.R288Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	9	GRCh37	CM081846	TOR1A	M		.						207.0	197.0	201.0					9																	132576387		2203	4300	6503	131616208	SO:0001583	missense	1861	exon5			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.863G>A	9.37:g.132576387C>T	ENSP00000345719:p.Arg288Gln	Somatic		Capture	Illumina HiSeq	Phase_I	131616208	NM_000113	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178510	0.57692	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.73047	-0.71	5.27	5.27	0.74061	.	0.117057	0.64402	D	0.000019	T	0.66056	0.2751	L	0.52011	1.625	0.58432	D	0.999993	P	0.52692	0.955	B	0.40534	0.332	T	0.67577	-0.5635	10	0.33940	T	0.23	-12.3451	17.8532	0.88754	0.0:1.0:0.0:0.0	.	288	O14656	TOR1A_HUMAN	Q	257;288	ENSP00000345719:R288Q	ENSP00000345719:R288Q	R	-	2	0	TOR1A	131616208	0.986000	0.35501	0.959000	0.39883	0.667000	0.39255	2.681000	0.46926	2.439000	0.82584	0.561000	0.74099	CGA		0.433	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113	
NCS1	23413	broad.mit.edu	37	9	132982038	132982038	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:132982038C>T	ENST00000372398.3	+	4	349	c.263C>T	c.(262-264)gCg>gTg	p.A88V	NCS1_ENST00000458469.1_Missense_Mutation_p.A70V	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)	p.A88V(1)		large_intestine(1)|lung(4)|stomach(1)	6						TTCATCCAGGCGCTGTCGGTG	0.637																																					p.A70V	Melanoma(30;182 1162 22581 33240)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209T	9						.						129.0	108.0	115.0					9																	132982038		2203	4300	6503	132021859	SO:0001583	missense	23413	exon4			AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.263C>T	9.37:g.132982038C>T	ENSP00000361475:p.Ala88Val	Somatic		Capture	Illumina HiSeq	Phase_I	132021859	NM_001128826	E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648061	0.67358	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	T;T	0.64803	-0.12;-0.12	4.57	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.79888	-0.1613	10	0.59425	D	0.04	.	16.3274	0.82990	0.0:1.0:0.0:0.0	.	70;88	E9PAY3;P62166	.;NCS1_HUMAN	V	88;70	ENSP00000361475:A88V;ENSP00000404103:A70V	ENSP00000361475:A88V	A	+	2	0	NCS1	132021859	1.000000	0.71417	0.986000	0.45419	0.050000	0.14768	7.541000	0.82084	2.065000	0.61736	0.563000	0.77884	GCG		0.637	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286	
FUBP3	8939	broad.mit.edu	37	9	133499010	133499010	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:133499010G>T	ENST00000319725.9	+	11	962	c.887G>T	c.(886-888)aGt>aTt	p.S296I		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	296	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S296I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GATGGGATTAGTCCAGAAAGA	0.498																																					p.S296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G887T	9						.						101.0	102.0	102.0					9																	133499010		1965	4182	6147	132488831	SO:0001583	missense	8939	exon11			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.887G>T	9.37:g.133499010G>T	ENSP00000318177:p.Ser296Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132488831	NM_003934	A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378059	0.61735	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.45276	0.9	5.54	5.54	0.83059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.52364	1.645	0.49299	D	0.999778	P;D;D	0.89917	0.953;1.0;1.0	P;D;D	0.83275	0.631;0.996;0.996	T	0.57740	-0.7759	10	0.45353	T	0.12	-5.0327	18.4584	0.90729	0.0:0.0:1.0:0.0	.	236;296;296	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	I	283;296;236	ENSP00000318177:S296I	ENSP00000318177:S296I	S	+	2	0	FUBP3	132488831	1.000000	0.71417	0.989000	0.46669	0.852000	0.48524	6.392000	0.73213	2.601000	0.87937	0.462000	0.41574	AGT		0.498	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1		
LAMC3	10319	broad.mit.edu	37	9	133901730	133901730	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:133901730C>T	ENST00000361069.4	+	2	565	c.432C>T	c.(430-432)agC>agT	p.S144S	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	144	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.S144S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCCTGAGAGCTTTGCCATCT	0.612																																					p.S144S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C432T	9						.						45.0	48.0	47.0					9																	133901730		2203	4300	6503	132891551	SO:0001819	synonymous_variant	10319	exon2			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.432C>T	9.37:g.133901730C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132891551	NM_006059	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.612	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
NUP214	8021	broad.mit.edu	37	9	134049503	134049503	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:134049503C>T	ENST00000359428.5	+	22	3099	c.2955C>T	c.(2953-2955)agC>agT	p.S985S	NUP214_ENST00000451030.1_Silent_p.S986S|NUP214_ENST00000411637.2_Silent_p.S975S			P35658	NU214_HUMAN	nucleoporin 214kDa	985	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.S985S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATGAAGTCAGCTCAACGTCAT	0.512			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.S985S	Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2955T	9						.						123.0	116.0	119.0					9																	134049503		2203	4300	6503	133039324	SO:0001819	synonymous_variant	8021	exon22			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2955C>T	9.37:g.134049503C>T		Somatic		Capture	Illumina HiSeq	Phase_I	133039324	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				0.512	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
NUP214	8021	broad.mit.edu	37	9	134064461	134064461	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:134064461A>G	ENST00000359428.5	+	26	3661	c.3517A>G	c.(3517-3519)Aag>Gag	p.K1173E	NUP214_ENST00000451030.1_Missense_Mutation_p.K1174E|NUP214_ENST00000483497.2_5'Flank|RP11-544A12.8_ENST00000502188.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.K1163E			P35658	NU214_HUMAN	nucleoporin 214kDa	1173	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.K1173E(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAATTCCCTTAAGCCATCTGG	0.363			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.K1173E	Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3517G	9						.						147.0	138.0	141.0					9																	134064461		2203	4300	6503	133054282	SO:0001583	missense	8021	exon26			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3517A>G	9.37:g.134064461A>G	ENSP00000352400:p.Lys1173Glu	Somatic		Capture	Illumina HiSeq	Phase_I	133054282	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437397	0.83885	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.33216	1.42;1.43;1.42	5.79	5.79	0.91817	.	0.339420	0.21174	N	0.078921	T	0.34629	0.0904	N	0.08118	0	0.31263	N	0.692717	D;D;D;D	0.69078	0.997;0.996;0.996;0.996	D;D;D;D	0.77557	0.985;0.99;0.99;0.99	T	0.43147	-0.9409	10	0.56958	D	0.05	-7.3194	12.5221	0.56065	1.0:0.0:0.0:0.0	.	1162;767;1163;1173	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	E	1173;1163;1174;1152;767;602	ENSP00000352400:K1173E;ENSP00000396576:K1163E;ENSP00000405014:K1174E	ENSP00000352400:K1173E	K	+	1	0	NUP214	133054282	0.998000	0.40836	0.796000	0.32109	0.892000	0.51952	5.126000	0.64721	2.218000	0.71995	0.533000	0.62120	AAG		0.363	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
POMT1	10585	broad.mit.edu	37	9	134396773	134396773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:134396773C>T	ENST00000372228.3	+	18	1984	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.S580L|POMT1_ENST00000402686.3_Missense_Mutation_p.S580L|POMT1_ENST00000354713.4_Missense_Mutation_p.S550L|POMT1_ENST00000404875.2_Missense_Mutation_p.S463L|POMT1_ENST00000341012.7_Missense_Mutation_p.S526L|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000541219.1_Missense_Mutation_p.S320L|POMT1_ENST00000419118.2_Missense_Mutation_p.S428L	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	602					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.S602L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ATCTGGGTTTCGGGCAGCCTC	0.567																																					p.S602L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1805T	9						.						189.0	143.0	158.0					9																	134396773		2203	4300	6503	133386594	SO:0001583	missense	10585	exon18			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1805C>T	9.37:g.134396773C>T	ENSP00000361302:p.Ser602Leu	Somatic		Capture	Illumina HiSeq	Phase_I	133386594	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889308	0.33348	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.95	5.95	0.96441	.	0.240174	0.39834	N	0.001251	D	0.89196	0.6646	L	0.41632	1.29	0.33646	D	0.607821	B;P;B;B	0.34934	0.241;0.476;0.107;0.205	B;B;B;B	0.32022	0.051;0.105;0.012;0.139	D	0.91536	0.5246	10	0.56958	D	0.05	-24.4872	19.3657	0.94460	0.0:1.0:0.0:0.0	.	550;320;602;580	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	L	580;463;526;602;580;428;320;550;201	ENSP00000404119:S580L;ENSP00000384531:S463L;ENSP00000343034:S526L;ENSP00000361302:S602L;ENSP00000385797:S580L;ENSP00000403032:S428L;ENSP00000440895:S320L;ENSP00000346748:S550L;ENSP00000361294:S201L	ENSP00000343034:S526L	S	+	2	0	POMT1	133386594	0.997000	0.39634	0.128000	0.21923	0.027000	0.11550	4.754000	0.62191	2.819000	0.97034	0.655000	0.94253	TCG		0.567	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
SETX	23064	broad.mit.edu	37	9	135140021	135140021	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135140021T>C	ENST00000224140.5	-	26	7821	c.7639A>G	c.(7639-7641)Att>Gtt	p.I2547V	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.I2576V|SETX_ENST00000393220.1_Missense_Mutation_p.I2514V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2547			I -> T (in ALS4). {ECO:0000269|PubMed:21190393}.		cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.I2547V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTGACCTCAATGCCCATCCTC	0.532																																					p.I2547V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7639G	9						.						102.0	103.0	103.0					9																	135140021		2203	4300	6503	134129842	SO:0001583	missense	23064	exon26			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7639A>G	9.37:g.135140021T>C	ENSP00000224140:p.Ile2547Val	Somatic		Capture	Illumina HiSeq	Phase_I	134129842	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	4.429	0.079373	0.08533	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90385	-1.99;-2.66;-2.11;-1.7	4.94	-9.88	0.00467	.	3.286410	0.00639	N	0.000502	T	0.74869	0.3773	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.017;0.006;0.017	B;B;B	0.13407	0.009;0.004;0.009	T	0.67277	-0.5711	10	0.16420	T	0.52	.	1.0889	0.01659	0.2102:0.1861:0.1595:0.4441	.	2514;2547;2576	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	2547;818;2576;2514	ENSP00000224140:I2547V;ENSP00000409143:I818V;ENSP00000361242:I2576V;ENSP00000376913:I2514V	ENSP00000224140:I2547V	I	-	1	0	SETX	134129842	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.877000	0.01631	-1.812000	0.01227	-0.366000	0.07423	ATT		0.532	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135173631	135173631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135173631C>A	ENST00000224140.5	-	13	5799	c.5617G>T	c.(5617-5619)Gaa>Taa	p.E1873*	SETX_ENST00000372169.2_Nonsense_Mutation_p.E1873*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E1873*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1873					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1873*(1)|p.E1873K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCACAAGTTCGTTTAAATTG	0.413																																					p.E1873X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G5617T	9						.						106.0	101.0	103.0					9																	135173631		2203	4300	6503	134163452	SO:0001587	stop_gained	23064	exon13			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5617G>T	9.37:g.135173631C>A	ENSP00000224140:p.Glu1873*	Somatic		Capture	Illumina HiSeq	Phase_I	134163452	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	44	11.080871	0.99513	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	.	.	.	5.72	1.31	0.21738	.	0.834364	0.10784	N	0.634561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.4285	0.27113	0.0:0.3608:0.4792:0.16	.	.	.	.	X	1873;115;1873;1873	.	ENSP00000224140:E1873X	E	-	1	0	SETX	134163452	0.660000	0.27420	0.003000	0.11579	0.376000	0.30014	0.173000	0.16724	0.247000	0.21414	-0.274000	0.10170	GAA		0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135203396	135203396	+	Missense_Mutation	SNP	C	C	T	rs149558692	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135203396C>T	ENST00000224140.5	-	10	3771	c.3589G>A	c.(3589-3591)Gat>Aat	p.D1197N	SETX_ENST00000372169.2_Missense_Mutation_p.D1197N|SETX_ENST00000393220.1_Missense_Mutation_p.D1197N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1197					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.D1197N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTTTAAAATCATTTCCCACA	0.398																																					p.D1197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3589A	9						.						82.0	80.0	81.0					9																	135203396		2203	4300	6503	134193217	SO:0001583	missense	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3589G>A	9.37:g.135203396C>T	ENSP00000224140:p.Asp1197Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134193217	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520972	0.27211	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87179	-2.13;-2.22;-1.83	5.64	1.51	0.23008	.	3.986430	0.00357	N	0.000021	T	0.76898	0.4052	N	0.17082	0.46	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.10450	0.005;0.002;0.005	T	0.62923	-0.6751	10	0.08837	T	0.75	.	7.2788	0.26300	0.0:0.5135:0.316:0.1705	.	1197;1197;1197	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	N	1197	ENSP00000224140:D1197N;ENSP00000361242:D1197N;ENSP00000376913:D1197N	ENSP00000224140:D1197N	D	-	1	0	SETX	134193217	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.068000	0.11561	0.306000	0.22856	0.555000	0.69702	GAT		0.398	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135204422	135204422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135204422C>A	ENST00000224140.5	-	10	2745	c.2563G>T	c.(2563-2565)Gaa>Taa	p.E855*	SETX_ENST00000372169.2_Nonsense_Mutation_p.E855*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E855*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	855					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E855*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GATTTTTGTTCTCCATTCTTA	0.318																																					p.E855X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2563T	9						.						50.0	50.0	50.0					9																	135204422		2201	4299	6500	134194243	SO:0001587	stop_gained	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2563G>T	9.37:g.135204422C>A	ENSP00000224140:p.Glu855*	Somatic		Capture	Illumina HiSeq	Phase_I	134194243	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	44	10.789078	0.99468	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	.	.	.	5.43	5.43	0.79202	.	3.277960	0.00654	N	0.000579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.107	0.72329	0.0:1.0:0.0:0.0	.	.	.	.	X	855	.	ENSP00000224140:E855X	E	-	1	0	SETX	134194243	0.001000	0.12720	0.757000	0.31301	0.954000	0.61252	0.813000	0.27225	2.721000	0.93114	0.655000	0.94253	GAA		0.318	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
C9orf171	389799	broad.mit.edu	37	9	135413086	135413086	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135413086A>T	ENST00000343036.2	+	5	779	c.731A>T	c.(730-732)aAg>aTg	p.K244M	C9orf171_ENST00000393216.2_Missense_Mutation_p.K208M	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	244			K -> Q (in dbSNP:rs34650498).					p.K244M(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGGAGAAGAAGCAGAAGGTA	0.547																																					p.K244M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A731T	9						.						86.0	89.0	88.0					9																	135413086		2203	4300	6503	134402907	SO:0001583	missense	389799	exon5			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.731A>T	9.37:g.135413086A>T	ENSP00000343290:p.Lys244Met	Somatic		Capture	Illumina HiSeq	Phase_I	134402907	NM_207417	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401747	0.62288	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.25085	1.82;1.82	5.65	4.51	0.55191	.	0.479549	0.19860	N	0.104451	T	0.38904	0.1058	L	0.51422	1.61	0.32170	N	0.581733	D;D	0.76494	0.998;0.999	D;D	0.64595	0.927;0.927	T	0.50575	-0.8812	10	0.72032	D	0.01	.	7.0255	0.24938	0.775:0.1478:0.0772:0.0	.	208;244	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	M	244;208	ENSP00000343290:K244M;ENSP00000376909:K208M	ENSP00000343290:K244M	K	+	2	0	C9orf171	134402907	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	2.426000	0.44731	0.961000	0.38030	0.533000	0.62120	AAG		0.547	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
C9orf9	11092	broad.mit.edu	37	9	135759359	135759359	+	Missense_Mutation	SNP	C	C	T	rs34208349		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:135759359C>T	ENST00000372136.3	+	2	472	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	C9orf9_ENST00000350499.6_Missense_Mutation_p.R9C|C9orf9_ENST00000356311.5_Missense_Mutation_p.R9C			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	9						cytoplasmic microtubule (GO:0005881)		p.R9C(1)|p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		AGAATCCCTTCGCAGCATCGA	0.547																																					p.R9C												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.C25T	9						.						113.0	107.0	109.0					9																	135759359		2203	4300	6503	134749180	SO:0001583	missense	11092	exon2				CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.25C>T	9.37:g.135759359C>T	ENSP00000361209:p.Arg9Cys	Somatic		Capture	Illumina HiSeq	Phase_I	134749180	NM_018956	Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37		.	.	.	.	.	.	.	.	.	.	C	13.78	2.338986	0.41398	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.47869	0.83;0.83;0.83	5.16	3.16	0.36331	.	0.353602	0.26556	N	0.023714	T	0.54255	0.1847	L	0.60455	1.87	0.09310	N	0.999999	B;D	0.71674	0.273;0.998	B;P	0.56474	0.029;0.799	T	0.44667	-0.9313	10	0.56958	D	0.05	-32.4136	9.0576	0.36414	0.2718:0.6117:0.1164:0.0	rs34208349	9;9	Q96E40-2;Q96E40	.;CI009_HUMAN	C	9	ENSP00000361209:R9C;ENSP00000348659:R9C;ENSP00000298546:R9C	ENSP00000298546:R9C	R	+	1	0	C9orf9	134749180	0.016000	0.18221	0.033000	0.17914	0.448000	0.32197	0.776000	0.26704	1.279000	0.44446	0.655000	0.94253	CGC		0.547	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956	
SURF6	6838	broad.mit.edu	37	9	136199150	136199150	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:136199150G>A	ENST00000372022.4	-	5	906	c.641C>T	c.(640-642)gCg>gTg	p.A214V	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	214					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A214V(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCTGCGCTGCGCCTTGCTGGC	0.652																																					p.A214V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641T	9						.						48.0	53.0	51.0					9																	136199150		2194	4279	6473	135188971	SO:0001583	missense	6838	exon5			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.641C>T	9.37:g.136199150G>A	ENSP00000361092:p.Ala214Val	Somatic		Capture	Illumina HiSeq	Phase_I	135188971	NM_006753	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	G	0.811	-0.752047	0.03041	.	.	ENSG00000148296	ENST00000372022	T	0.13901	2.55	4.42	4.42	0.53409	.	0.295189	0.30620	N	0.009224	T	0.11452	0.0279	L	0.49513	1.565	0.37264	D	0.907112	B	0.18461	0.028	B	0.10450	0.005	T	0.12553	-1.0543	10	0.25751	T	0.34	-22.7212	6.0742	0.19905	0.2109:0.0:0.7891:0.0	.	214	O75683	SURF6_HUMAN	V	214	ENSP00000361092:A214V	ENSP00000361092:A214V	A	-	2	0	SURF6	135188971	0.931000	0.31567	0.979000	0.43373	0.161000	0.22273	2.701000	0.47094	2.263000	0.75096	0.467000	0.42956	GCG		0.652	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753	
STKLD1	169436	broad.mit.edu	37	9	136270025	136270025	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:136270025C>A	ENST00000371957.3	+	17	1952	c.1845C>A	c.(1843-1845)ggC>ggA	p.G615G	C9orf96_ENST00000371955.1_Silent_p.G148G	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		615							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.G567G(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGAACGTGGGCATGCTGCTGG	0.632																																					p.G615G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1845A	9						.						157.0	134.0	142.0					9																	136270025		2203	4300	6503	135259846	SO:0001819	synonymous_variant	169436	exon17																														ENST00000371957.3:c.1845C>A	9.37:g.136270025C>A		Somatic		Capture	Illumina HiSeq	Phase_I	135259846	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	CCDS35169.1																																																																																				0.632	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		
TMEM8C	389827	broad.mit.edu	37	9	136385400	136385400	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:136385400G>A	ENST00000339996.3	-	2	247	c.146C>T	c.(145-147)gCc>gTc	p.A49V	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	49					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A49V(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TCCATTGCAGGCATGGTGGAG	0.607																																					p.A49V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C146T	9						.						97.0	78.0	85.0					9																	136385400		2203	4300	6503	135375221	SO:0001583	missense	389827	exon2			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.146C>T	9.37:g.136385400G>A	ENSP00000419712:p.Ala49Val	Somatic		Capture	Illumina HiSeq	Phase_I	135375221	NM_001080483		Missense_Mutation	SNP	ENST00000339996.3	37	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272310	0.59649	.	.	ENSG00000187616	ENST00000339996	T	0.50001	0.76	4.93	4.93	0.64822	.	0.063724	0.64402	D	0.000009	T	0.50786	0.1636	M	0.80616	2.505	0.47094	D	0.999314	P	0.34892	0.474	B	0.35655	0.207	T	0.58148	-0.7687	10	0.62326	D	0.03	-26.6414	10.9586	0.47372	0.0912:0.0:0.9088:0.0	.	49	A6NI61	TMM8C_HUMAN	V	49	ENSP00000419712:A49V	ENSP00000419712:A49V	A	-	2	0	TMEM8C	135375221	1.000000	0.71417	0.998000	0.56505	0.669000	0.39330	6.061000	0.71148	2.291000	0.77112	0.456000	0.33151	GCC		0.607	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483	
DBH	1621	broad.mit.edu	37	9	136509395	136509395	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:136509395G>T	ENST00000393056.2	+	5	989	c.977G>T	c.(976-978)aGa>aTa	p.R326I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	326					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.R326I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGGTCCTCCAGATATCTCCGC	0.587																																					p.R326I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G977T	9						.						101.0	93.0	96.0					9																	136509395		2203	4300	6503	135499216	SO:0001583	missense	1621	exon5			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.977G>T	9.37:g.136509395G>T	ENSP00000376776:p.Arg326Ile	Somatic		Capture	Illumina HiSeq	Phase_I	135499216	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823170	0.32237	.	.	ENSG00000123454	ENST00000393056	T	0.33216	1.42	5.13	1.78	0.24846	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.186460	0.56097	D	0.000029	T	0.41581	0.1165	M	0.88031	2.925	0.31204	N	0.699429	P	0.44776	0.843	P	0.46389	0.515	T	0.49283	-0.8956	10	0.39692	T	0.17	-41.8693	7.0622	0.25131	0.2099:0.1469:0.6433:0.0	.	326	P09172	DOPO_HUMAN	I	326	ENSP00000376776:R326I	ENSP00000376776:R326I	R	+	2	0	DBH	135499216	1.000000	0.71417	0.012000	0.15200	0.032000	0.12392	2.178000	0.42519	0.525000	0.28522	0.561000	0.74099	AGA		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
COL5A1	1289	broad.mit.edu	37	9	137717744	137717744	+	Silent	SNP	C	C	T	rs371771492		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:137717744C>T	ENST00000371817.3	+	63	5475	c.5061C>T	c.(5059-5061)tcC>tcT	p.S1687S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1687	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.S1687S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACAAGAAGTCCGAAGGGGTGA	0.567																																					p.S1687S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5061T	9						.	C		0,4406		0,0,2203	63.0	54.0	57.0		5061	-7.9	0.9	9		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1687/1839	137717744	1,13005	2203	4300	6503	136857565	SO:0001819	synonymous_variant	1289	exon63			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5061C>T	9.37:g.137717744C>T		Somatic		Capture	Illumina HiSeq	Phase_I	136857565	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	5.221	0.226359	0.09916	0.0	1.16E-4	ENSG00000130635	ENST00000371820	.	.	.	3.97	-7.94	0.01152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9247	0.05780	0.1482:0.339:0.0838:0.429	.	.	.	.	X	107	.	.	R	+	1	2	COL5A1	136857565	0.000000	0.05858	0.904000	0.35570	0.533000	0.34776	-2.508000	0.00960	-1.926000	0.01061	-0.877000	0.02976	CGA		0.567	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
FCN1	2219	broad.mit.edu	37	9	137801879	137801879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:137801879G>A	ENST00000371806.3	-	9	837	c.746C>T	c.(745-747)aCg>aTg	p.T249M		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	249	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.T249M(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTTGTGGCCCGTTAGAGAATT	0.512																																					p.T249M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	9						.						181.0	188.0	186.0					9																	137801879		2203	4300	6503	136941700	SO:0001583	missense	2219	exon9			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.746C>T	9.37:g.137801879G>A	ENSP00000360871:p.Thr249Met	Somatic		Capture	Illumina HiSeq	Phase_I	136941700	NM_002003	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	4.661	0.122934	0.08931	.	.	ENSG00000085265	ENST00000371806	T	0.79247	-1.25	3.29	-1.11	0.09840	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.69024	0.3065	M	0.74258	2.255	0.09310	N	1	B	0.33318	0.408	B	0.24394	0.053	T	0.57728	-0.7761	9	0.66056	D	0.02	.	3.6282	0.08121	0.1805:0.1316:0.5556:0.1323	.	249	O00602	FCN1_HUMAN	M	249	ENSP00000360871:T249M	ENSP00000360871:T249M	T	-	2	0	FCN1	136941700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.294000	0.08309	-0.797000	0.04450	-2.243000	0.00286	ACG		0.512	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
OLFM1	10439	broad.mit.edu	37	9	138011950	138011950	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:138011950T>C	ENST00000371793.3	+	6	1635	c.1384T>C	c.(1384-1386)Tat>Cat	p.Y462H	OLFM1_ENST00000252854.4_Missense_Mutation_p.Y444H|OLFM1_ENST00000371796.3_Missense_Mutation_p.Y435H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	462	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.Y444H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCGGGCCCTGTATGCCTGGAA	0.562																																					p.Y444H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1330C	9						.						122.0	109.0	113.0					9																	138011950		2203	4300	6503	137151771	SO:0001583	missense	10439	exon6			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1384T>C	9.37:g.138011950T>C	ENSP00000360858:p.Tyr462His	Somatic		Capture	Illumina HiSeq	Phase_I	137151771	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	T	16.61	3.171727	0.57584	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.94862	-3.54;-3.54;-3.54	4.94	4.94	0.65067	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.91038	3.17	0.80722	D	1	B;P	0.41848	0.121;0.763	B;P	0.48571	0.111;0.582	D	0.97383	0.9984	10	0.87932	D	0	.	14.6024	0.68450	0.0:0.0:0.0:1.0	.	462;444	Q99784;Q6IMJ8	NOE1_HUMAN;.	H	444;435;462	ENSP00000252854:Y444H;ENSP00000360861:Y435H;ENSP00000360858:Y462H	ENSP00000252854:Y444H	Y	+	1	0	OLFM1	137151771	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.777000	0.85628	1.862000	0.54008	0.459000	0.35465	TAT		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
GLT6D1	360203	broad.mit.edu	37	9	138517929	138517929	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:138517929G>T	ENST00000371763.1	-	4	496	c.243C>A	c.(241-243)gtC>gtA	p.V81V		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	81					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.V81V(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CAGTAGCAAAGACGGCCAGGC	0.507																																					p.V81V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243A	9						.						68.0	74.0	72.0					9																	138517929		1901	4103	6004	137657750	SO:0001819	synonymous_variant	360203	exon4			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.243C>A	9.37:g.138517929G>T		Somatic		Capture	Illumina HiSeq	Phase_I	137657750	NM_182974		Silent	SNP	ENST00000371763.1	37	CCDS43900.1																																																																																				0.507	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974	
CAMSAP1	157922	broad.mit.edu	37	9	138703329	138703329	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:138703329C>A	ENST00000389532.4	-	17	4699	c.4635G>T	c.(4633-4635)aaG>aaT	p.K1545N	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.K1267N|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.K1556N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1545	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.K1545N(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGTGATGTTCTTTGGCCCCG	0.453																																					p.K1545N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4635T	9						.						208.0	166.0	180.0					9																	138703329		2203	4300	6503	137843150	SO:0001583	missense	157922	exon17			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4635G>T	9.37:g.138703329C>A	ENSP00000374183:p.Lys1545Asn	Somatic		Capture	Illumina HiSeq	Phase_I	137843150	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286982	0.80803	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17213	2.3;2.29;2.3	5.2	4.29	0.51040	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.143615	0.64402	D	0.000010	T	0.35682	0.0940	L	0.56769	1.78	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.979	T	0.08638	-1.0712	10	0.87932	D	0	.	10.7012	0.45928	0.0:0.8502:0.0:0.1498	.	1545;1556	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	1545;1267;1556	ENSP00000374183:K1545N;ENSP00000312463:K1267N;ENSP00000386420:K1556N	ENSP00000312463:K1267N	K	-	3	2	CAMSAP1	137843150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.967000	0.56802	1.290000	0.44636	0.561000	0.74099	AAG		0.453	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
SNAPC4	6621	broad.mit.edu	37	9	139281957	139281957	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:139281957G>A	ENST00000298532.2	-	12	1673	c.1305C>T	c.(1303-1305)agC>agT	p.S435S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S435S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACTGGGCATCGCTCCTACCTG	0.607																																					p.S435S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1305T	9						.						132.0	120.0	124.0					9																	139281957		2203	4300	6503	138401778	SO:0001819	synonymous_variant	6621	exon12			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1305C>T	9.37:g.139281957G>A		Somatic		Capture	Illumina HiSeq	Phase_I	138401778	NM_003086		Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																				0.607	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
SEC16A	9919	broad.mit.edu	37	9	139369093	139369093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:139369093C>T	ENST00000371706.3	-	1	2474	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E	SEC16A_ENST00000290037.6_Missense_Mutation_p.G814E|SEC16A_ENST00000313050.7_Missense_Mutation_p.G992E|SEC16A_ENST00000431893.2_Missense_Mutation_p.G814E			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	814					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.G992E(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCTAGGGCTCCGTAAGTGTC	0.502																																					p.G992E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2975A	9						.						32.0	33.0	32.0					9																	139369093		1935	4134	6069	138488914	SO:0001583	missense	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2441G>A	9.37:g.139369093C>T	ENSP00000360771:p.Gly814Glu	Somatic		Capture	Illumina HiSeq	Phase_I	138488914	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	C	12.32	1.903669	0.33628	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.22336	1.99;1.96;1.96;1.96	5.38	3.52	0.40303	.	0.321557	0.33438	N	0.004902	T	0.20251	0.0487	L	0.56769	1.78	0.80722	D	1	P;P;P	0.41450	0.635;0.75;0.75	B;B;B	0.43274	0.236;0.414;0.414	T	0.04900	-1.0919	10	0.06236	T	0.91	-13.4416	10.5024	0.44813	0.0:0.8436:0.0:0.1564	.	992;814;814	F1T0I1;O15027-5;O15027-4	.;.;.	E	992;814;814;814	ENSP00000325827:G992E;ENSP00000360771:G814E;ENSP00000290037:G814E;ENSP00000387583:G814E	ENSP00000290037:G814E	G	-	2	0	SEC16A	138488914	0.927000	0.31430	0.684000	0.30055	0.134000	0.20937	0.858000	0.27845	1.397000	0.46682	0.655000	0.94253	GGA		0.502	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
SEC16A	9919	broad.mit.edu	37	9	139369229	139369229	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:139369229C>T	ENST00000371706.3	-	1	2338	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	SEC16A_ENST00000290037.6_Missense_Mutation_p.A769T|SEC16A_ENST00000313050.7_Missense_Mutation_p.A947T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A769T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	769					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.A947T(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACTTCCTGCCTTACGATCC	0.493																																					p.A947T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2839A	9						.						85.0	85.0	85.0					9																	139369229		1922	4133	6055	138489050	SO:0001583	missense	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2305G>A	9.37:g.139369229C>T	ENSP00000360771:p.Ala769Thr	Somatic		Capture	Illumina HiSeq	Phase_I	138489050	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	C	16.65	3.183297	0.57800	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.88;1.86;1.87;1.87	5.38	-1.44	0.08856	.	0.780131	0.11718	N	0.536227	T	0.14743	0.0356	L	0.47716	1.5	0.09310	N	1	P;P;P	0.38078	0.483;0.617;0.617	B;B;B	0.33960	0.084;0.173;0.173	T	0.22452	-1.0216	10	0.15066	T	0.55	0.0129	3.6537	0.08213	0.3593:0.4116:0.094:0.1352	.	947;769;769	F1T0I1;O15027-5;O15027-4	.;.;.	T	947;769;769;769	ENSP00000325827:A947T;ENSP00000360771:A769T;ENSP00000290037:A769T;ENSP00000387583:A769T	ENSP00000290037:A769T	A	-	1	0	SEC16A	138489050	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.606000	0.05654	0.045000	0.15804	0.655000	0.94253	GCA		0.493	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
PNPLA7	375775	broad.mit.edu	37	9	140374875	140374875	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:140374875G>T	ENST00000277531.4	-	22	2580	c.2394C>A	c.(2392-2394)atC>atA	p.I798I	PNPLA7_ENST00000406427.1_Silent_p.I823I|PNPLA7_ENST00000371457.1_Silent_p.I404I|PNPLA7_ENST00000492278.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	798					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.I798I(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTAGAGCACGATCCTGTGGG	0.657																																					p.I823I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2469A	9						.						74.0	54.0	61.0					9																	140374875		2203	4300	6503	139494696	SO:0001819	synonymous_variant	375775	exon23			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2394C>A	9.37:g.140374875G>T		Somatic		Capture	Illumina HiSeq	Phase_I	139494696	NM_001098537	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	CCDS7045.1																																																																																				0.657	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
DOCK8	81704	broad.mit.edu	37	9	377067	377067	+	Missense_Mutation	SNP	G	G	A	rs267602235		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:377067G>A	ENST00000453981.1	+	20	2408	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	DOCK8_ENST00000382329.1_Missense_Mutation_p.E233K|DOCK8_ENST00000382331.1_Missense_Mutation_p.E68K|DOCK8_ENST00000432829.2_Missense_Mutation_p.E698K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E698K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	766					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E698K(1)|p.E766K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAAATCAGCGAGATGGCGCT	0.602																																					p.E698K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2092A	9						.	G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	72.0	49.0	57.0		2092,2092,2296	5.7	0.8	9		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	698/2000,698/2032,766/2100	377067	1,13005	2203	4300	6503	367067	SO:0001583	missense	81704	exon19			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2296G>A	9.37:g.377067G>A	ENSP00000408464:p.Glu766Lys	Somatic		Capture	Illumina HiSeq	Phase_I	367067	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	36	5.627013	0.96671	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.997;0.992;0.98;0.963	T	0.62086	-0.6928	10	0.37606	T	0.19	.	19.8644	0.96799	0.0:0.0:1.0:0.0	.	68;698;233;766	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	K	766;766;698;698;68;233	ENSP00000408464:E766K;ENSP00000394888:E698K;ENSP00000419438:E698K;ENSP00000371768:E68K;ENSP00000371766:E233K	ENSP00000287364:E766K	E	+	1	0	DOCK8	367067	1.000000	0.71417	0.810000	0.32431	0.802000	0.45316	9.593000	0.98250	2.691000	0.91804	0.655000	0.94253	GAG		0.602	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DOCK8	81704	broad.mit.edu	37	9	428479	428479	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:428479C>T	ENST00000453981.1	+	35	4568	c.4456C>T	c.(4456-4458)Cgt>Tgt	p.R1486C	DOCK8_ENST00000382329.1_Missense_Mutation_p.R953C|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1418C|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1386C			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1486					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1486C(1)|p.R1418C(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCAACACTCCGTGCTCTCAT	0.468																																					p.R1386C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4156T	9						.						144.0	117.0	126.0					9																	428479		2203	4300	6503	418479	SO:0001583	missense	81704	exon33			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4456C>T	9.37:g.428479C>T	ENSP00000408464:p.Arg1486Cys	Somatic		Capture	Illumina HiSeq	Phase_I	418479	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953702	0.73902	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93394	0.6754	10	0.87932	D	0	.	15.4181	0.74987	0.1475:0.8525:0.0:0.0	.	1386;953;1486	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	C	1486;1454;1418;1386;953	ENSP00000408464:R1486C;ENSP00000394888:R1418C;ENSP00000419438:R1386C;ENSP00000371766:R953C	ENSP00000287364:R1454C	R	+	1	0	DOCK8	418479	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	0.973000	0.29422	2.648000	0.89879	0.650000	0.86243	CGT		0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
KANK1	23189	broad.mit.edu	37	9	712443	712443	+	Silent	SNP	C	C	T	rs373666002		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:712443C>T	ENST00000382303.1	+	7	2329	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	KANK1_ENST00000382293.3_Silent_p.V401V|KANK1_ENST00000382297.2_Silent_p.V559V|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	559					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.V559V(1)|p.V401V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGAATAAAGTCGTAGGGCCTG	0.517																																					p.V559V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1677T	9						.	C	,	0,4406		0,0,2203	166.0	158.0	161.0		1677,1203	-2.4	0.0	9		161	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	559/1353,401/1195	712443	2,13004	2203	4300	6503	702443	SO:0001819	synonymous_variant	23189	exon3			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1677C>T	9.37:g.712443C>T		Somatic		Capture	Illumina HiSeq	Phase_I	702443	NM_015158	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.517	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
SMARCA2	6595	broad.mit.edu	37	9	2032958	2032958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:2032958G>A	ENST00000382203.1	+	3	441	c.232G>A	c.(232-234)Gat>Aat	p.D78N	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D78N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D78N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D78N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	78					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D78N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCAGCCCATCGATGGTATACA	0.443																																					p.D78N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G232A	9						.						113.0	101.0	105.0					9																	2032958		2203	4300	6503	2022958	SO:0001583	missense	6595	exon3			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.232G>A	9.37:g.2032958G>A	ENSP00000371638:p.Asp78Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2022958	NM_003070	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437109	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87491	-2.26;-2.26;0.82;-2.26;-2.26	5.8	5.8	0.92144	.	0.138546	0.48286	D	0.000194	D	0.90386	0.6991	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.67103	0.949;0.934	D	0.88970	0.3400	10	0.38643	T	0.18	-20.0306	20.0522	0.97631	0.0:0.0:1.0:0.0	.	78;78	P51531-2;P51531	.;SMCA2_HUMAN	N	78	ENSP00000265773:D78N;ENSP00000349788:D78N;ENSP00000392081:D78N;ENSP00000371638:D78N;ENSP00000371629:D78N	ENSP00000265773:D78N	D	+	1	0	SMARCA2	2022958	1.000000	0.71417	0.804000	0.32291	0.964000	0.63967	9.786000	0.99046	2.737000	0.93849	0.563000	0.77884	GAT		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
SMARCA2	6595	broad.mit.edu	37	9	2123819	2123819	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:2123819A>G	ENST00000382203.1	+	27	4072	c.3863A>G	c.(3862-3864)gAc>gGc	p.D1288G	SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1288G|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1288G|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1288G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1288					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D1284G(1)|p.D1288G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTAAGGATGACGCTGAAGTA	0.582																																					p.D1288G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3863G	9						.						42.0	42.0	42.0					9																	2123819		2203	4300	6503	2113819	SO:0001583	missense	6595	exon27			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3863A>G	9.37:g.2123819A>G	ENSP00000371638:p.Asp1288Gly	Somatic		Capture	Illumina HiSeq	Phase_I	2113819	NM_003070	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125660	0.56721	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.87966	-2.32;-2.3;-2.32;-2.3	5.67	5.67	0.87782	.	0.056680	0.64402	D	0.000002	D	0.87140	0.6103	L	0.45228	1.405	0.80722	D	1	B;P;P	0.49961	0.178;0.93;0.884	B;P;B	0.49829	0.15;0.623;0.419	D	0.87097	0.2176	10	0.44086	T	0.13	-34.7546	15.9141	0.79496	1.0:0.0:0.0:0.0	.	889;1288;1288	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	G	1288	ENSP00000265773:D1288G;ENSP00000349788:D1288G;ENSP00000371638:D1288G;ENSP00000371629:D1288G	ENSP00000265773:D1288G	D	+	2	0	SMARCA2	2113819	1.000000	0.71417	0.945000	0.38365	0.783000	0.44284	9.305000	0.96197	2.154000	0.67381	0.533000	0.62120	GAC		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
KIAA0020	9933	broad.mit.edu	37	9	2829936	2829936	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:2829936C>T	ENST00000397885.2	-	8	896	c.690G>A	c.(688-690)caG>caA	p.Q230Q	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	230	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.Q230Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCTCTGCAATCTGTGGTTTAC	0.428																																					p.Q230Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	9						.						151.0	132.0	138.0					9																	2829936		2203	4300	6503	2819936	SO:0001819	synonymous_variant	9933	exon8			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.690G>A	9.37:g.2829936C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2819936	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	CCDS6448.2																																																																																				0.428	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
GLIS3	169792	broad.mit.edu	37	9	4117826	4117826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4117826C>T	ENST00000324333.10	-	3	1380	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	GLIS3_ENST00000381971.3_Missense_Mutation_p.R551H	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	396					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R396H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CAGTTTATAGCGGGCGTTGAA	0.572																																					p.R396H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187A	9						.						163.0	153.0	157.0					9																	4117826		2203	4300	6503	4107826	SO:0001583	missense	169792	exon3			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1187G>A	9.37:g.4117826C>T	ENSP00000325494:p.Arg396His	Somatic		Capture	Illumina HiSeq	Phase_I	4107826	NM_152629	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011186	0.93346	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;T	0.96265	-3.96;2.41	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000121	D	0.97529	0.9191	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.999;0.999;0.997	D	0.98150	1.0441	10	0.87932	D	0	.	19.8286	0.96626	0.0:1.0:0.0:0.0	.	59;64;64;551;396	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	H	396;551	ENSP00000325494:R396H;ENSP00000371398:R551H	ENSP00000325494:R396H	R	-	2	0	GLIS3	4107826	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.792000	0.85828	2.698000	0.92095	0.655000	0.94253	CGC		0.572	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
SLC1A1	6505	broad.mit.edu	37	9	4564401	4564401	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4564401C>T	ENST00000262352.3	+	4	619	c.383C>T	c.(382-384)gCg>gTg	p.A128V	SLC1A1_ENST00000490167.1_3'UTR	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	128					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A128V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GGTGAAATTGCGAGGACAGGC	0.532																																					p.A128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	9						.						167.0	122.0	137.0					9																	4564401		2203	4300	6503	4554401	SO:0001583	missense	6505	exon4				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.383C>T	9.37:g.4564401C>T	ENSP00000262352:p.Ala128Val	Somatic		Capture	Illumina HiSeq	Phase_I	4554401	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377489	0.24944	.	.	ENSG00000106688	ENST00000262352	T	0.59906	0.23	5.96	4.83	0.62350	.	0.172229	0.64402	D	0.000008	T	0.44307	0.1287	N	0.21240	0.645	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.23261	-1.0193	10	0.38643	T	0.18	.	13.4656	0.61251	0.868:0.132:0.0:0.0	.	128	P43005	EAA3_HUMAN	V	128	ENSP00000262352:A128V	ENSP00000262352:A128V	A	+	2	0	SLC1A1	4554401	1.000000	0.71417	0.941000	0.38009	0.230000	0.25150	4.279000	0.58953	1.085000	0.41206	-0.256000	0.11100	GCG		0.532	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
SLC1A1	6505	broad.mit.edu	37	9	4566090	4566090	+	Splice_Site	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4566090G>A	ENST00000262352.3	+	5	719		c.e5+1			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1						D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TTTTCAGCAGGTAATATTAAT	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						189.0	185.0	187.0					9																	4566090		2203	4300	6503	4556090	SO:0001630	splice_region_variant	6505	.				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.483+1G>A	9.37:g.4566090G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4556090	.	O75587|Q5VZ24|Q8N199|Q9UEW2	Splice_Site	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995866	0.93167	.	.	ENSG00000106688	ENST00000262352	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC1A1	4556090	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.700000	0.98707	2.814000	0.96858	0.655000	0.94253	.		0.373	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		Intron
SLC1A1	6505	broad.mit.edu	37	9	4576583	4576583	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4576583C>A	ENST00000262352.3	+	10	1249	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	338					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.P338H(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GCAACACTGCCTGTCACCTTC	0.463																																					p.P338H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013A	9						.						117.0	113.0	114.0					9																	4576583		2203	4300	6503	4566583	SO:0001583	missense	6505	exon10				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1013C>A	9.37:g.4576583C>A	ENSP00000262352:p.Pro338His	Somatic		Capture	Illumina HiSeq	Phase_I	4566583	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174653	0.78452	.	.	ENSG00000106688	ENST00000262352	D	0.85955	-2.05	5.54	4.62	0.57501	.	0.048365	0.85682	N	0.000000	D	0.95843	0.8647	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97688	1.0177	10	0.87932	D	0	.	15.6016	0.76628	0.1389:0.8611:0.0:0.0	.	338	P43005	EAA3_HUMAN	H	338	ENSP00000262352:P338H	ENSP00000262352:P338H	P	+	2	0	SLC1A1	4566583	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.802000	0.85969	1.294000	0.44707	0.655000	0.94253	CCT		0.463	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
PPAPDC2	403313	broad.mit.edu	37	9	4662968	4662968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4662968A>G	ENST00000381883.2	+	1	671	c.593A>G	c.(592-594)gAc>gGc	p.D198G	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	198						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.D198G(1)		endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		AACCAGATGGACATGTTTGTC	0.617																																					p.D198G	Melanoma(187;1057 3809 8526)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A593G	9						.						69.0	55.0	59.0					9																	4662968		2203	4300	6503	4652968	SO:0001583	missense	403313	exon1			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.593A>G	9.37:g.4662968A>G	ENSP00000371307:p.Asp198Gly	Somatic		Capture	Illumina HiSeq	Phase_I	4652968	NM_203453	B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008157	0.75046	.	.	ENSG00000205808	ENST00000381883;ENST00000537542	T	0.73789	-0.78	5.35	5.35	0.76521	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.70727	0.3257	N	0.05351	-0.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68224	-0.5465	10	0.15952	T	0.53	-34.9663	13.3308	0.60485	1.0:0.0:0.0:0.0	.	198	Q8IY26	PPAC2_HUMAN	G	198;107	ENSP00000371307:D198G	ENSP00000371307:D198G	D	+	2	0	PPAPDC2	4652968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.836000	0.62789	2.243000	0.73865	0.533000	0.62120	GAC		0.617	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453	
RCL1	10171	broad.mit.edu	37	9	4849456	4849456	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:4849456G>A	ENST00000381750.4	+	8	1100	c.877G>A	c.(877-879)Gta>Ata	p.V293I	MIR101-2_ENST00000362195.2_RNA|RCL1_ENST00000448872.2_Missense_Mutation_p.V107I|RCL1_ENST00000381728.1_Missense_Mutation_p.V107I|RP11-125K10.5_ENST00000443970.1_RNA|RCL1_ENST00000381730.1_Missense_Mutation_p.V107I	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	293					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)	p.V293I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GGGTGGATGCGTAGACTCGAC	0.438																																					p.V293I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G877A	9						.						115.0	98.0	104.0					9																	4849456		2203	4300	6503	4839456	SO:0001583	missense	10171	exon8			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.877G>A	9.37:g.4849456G>A	ENSP00000371169:p.Val293Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4839456	NM_005772	D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480767	0.44044	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (4);-terminal phosphate cyclase (1);	0.122427	0.56097	D	0.000036	T	0.56352	0.1979	L	0.41492	1.28	0.80722	D	1	B;B	0.27951	0.092;0.195	B;B	0.27380	0.079;0.079	T	0.51426	-0.8707	9	0.35671	T	0.21	-22.0129	18.2327	0.89939	0.0:0.0:1.0:0.0	.	107;293	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	I	293;135;107;107;107;107	.	ENSP00000371147:V107I	V	+	1	0	RCL1	4839456	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.496000	0.97967	2.737000	0.93849	0.563000	0.77884	GTA		0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772	
JAK2	3717	broad.mit.edu	37	9	5064982	5064982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5064982G>T	ENST00000381652.3	+	9	1650	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E237*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E386*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	386					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.E386*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCTCTGTAAAGAAGTAGCACC	0.348		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.E386X			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1156T	9						.						84.0	81.0	82.0					9																	5064982		2203	4300	6503	5054982	SO:0001587	stop_gained	3717	exon9	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1156G>T	9.37:g.5064982G>T	ENSP00000371067:p.Glu386*	Somatic		Capture	Illumina HiSeq	Phase_I	5054982	NM_004972	O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	41	8.946022	0.99012	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.15	5.15	0.70609	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2019	18.6185	0.91313	0.0:0.0:1.0:0.0	.	.	.	.	X	386;386;237	.	ENSP00000371067:E386X	E	+	1	0	JAK2	5054982	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.459000	0.97638	2.412000	0.81896	0.313000	0.20887	GAA		0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
JAK2	3717	broad.mit.edu	37	9	5089770	5089770	+	Nonsense_Mutation	SNP	G	G	T	rs202237966		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5089770G>T	ENST00000381652.3	+	20	3162	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E741*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E890*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	890	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.E890*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAGTACTGAAGAGCACCTAAG	0.453		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.E890X			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2668T	9						.						126.0	112.0	117.0					9																	5089770		2203	4300	6503	5079770	SO:0001587	stop_gained	3717	exon20	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2668G>T	9.37:g.5089770G>T	ENSP00000371067:p.Glu890*	Somatic		Capture	Illumina HiSeq	Phase_I	5079770	NM_004972	O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	43	10.435242	0.99404	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.28	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.1898	13.835	0.63404	0.074:0.0:0.926:0.0	.	.	.	.	X	890;890;741	.	ENSP00000371067:E890X	E	+	1	0	JAK2	5079770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.380000	0.97202	1.223000	0.43536	0.650000	0.86243	GAG		0.453	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
INSL6	11172	broad.mit.edu	37	9	5164170	5164170	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5164170T>G	ENST00000381641.3	-	2	450	c.385A>C	c.(385-387)Aga>Cga	p.R129R	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	129					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R129R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GAAAATTCTCTTGTCTTACCA	0.328																																					p.R129R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A385C	9						.						91.0	91.0	91.0					9																	5164170		2203	4299	6502	5154170	SO:0001819	synonymous_variant	11172	exon2			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.385A>C	9.37:g.5164170T>G		Somatic		Capture	Illumina HiSeq	Phase_I	5154170	NM_007179	A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	CCDS6458.1																																																																																				0.328	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
RLN2	6019	broad.mit.edu	37	9	5300394	5300394	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5300394A>G	ENST00000381627.3	-	2	650	c.262T>C	c.(262-264)Tca>Cca	p.S88P	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	88					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S88P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACAAATTCTGACATCATATTT	0.358																																					p.S88P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T262C	9						.						104.0	103.0	103.0					9																	5300394		2203	4300	6503	5290394	SO:0001583	missense	6019	exon2				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.262T>C	9.37:g.5300394A>G	ENSP00000371040:p.Ser88Pro	Somatic		Capture	Illumina HiSeq	Phase_I	5290394	NM_134441	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	A	9.466	1.094246	0.20471	.	.	ENSG00000107014	ENST00000381627	T	0.43688	0.94	3.48	-0.614	0.11590	Insulin-like (3);	2.779790	0.01410	N	0.013960	T	0.30386	0.0763	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.17098	0.017	T	0.08027	-1.0742	10	0.30854	T	0.27	.	2.5063	0.04645	0.5529:0.0:0.2425:0.2046	.	88	P04090	REL2_HUMAN	P	88	ENSP00000371040:S88P	ENSP00000371040:S88P	S	-	1	0	RLN2	5290394	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.306000	0.08178	-0.104000	0.12154	0.529000	0.55759	TCA		0.358	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441	
ERMP1	79956	broad.mit.edu	37	9	5825132	5825132	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5825132A>G	ENST00000339450.5	-	3	817	c.728T>C	c.(727-729)gTc>gCc	p.V243A	ERMP1_ENST00000214893.5_Intron|ERMP1_ENST00000381506.3_Missense_Mutation_p.V19A	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	243						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.V243A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAGAAATATGACAGCATGATG	0.388																																					p.V243A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T728C	9						.						79.0	70.0	73.0					9																	5825132		2203	4300	6503	5815132	SO:0001583	missense	79956	exon3			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.728T>C	9.37:g.5825132A>G	ENSP00000340427:p.Val243Ala	Somatic		Capture	Illumina HiSeq	Phase_I	5815132	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761051	0.89932	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T;T	0.60797	0.16;0.16	5.51	5.51	0.81932	Peptidase M28 (1);	0.194429	0.44483	D	0.000451	T	0.69278	0.3093	M	0.65677	2.01	0.58432	D	0.999996	P;P	0.46952	0.798;0.887	P;P	0.54174	0.744;0.741	T	0.72743	-0.4201	10	0.66056	D	0.02	-4.4067	15.643	0.77020	1.0:0.0:0.0:0.0	.	243;243	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	A	243;19	ENSP00000340427:V243A;ENSP00000370917:V19A	ENSP00000340427:V243A	V	-	2	0	ERMP1	5815132	1.000000	0.71417	0.867000	0.34043	0.919000	0.55068	8.888000	0.92464	2.107000	0.64212	0.528000	0.53228	GTC		0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
KIAA2026	158358	broad.mit.edu	37	9	5921788	5921788	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:5921788G>T	ENST00000399933.3	-	8	4207	c.4208C>A	c.(4207-4209)tCt>tAt	p.S1403Y	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1373Y	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1403	Ser-rich.							p.S1403Y(1)|p.S578Y(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGAGTACTAGAACAAATAGA	0.393																																					p.S1403Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4208A	9						.						150.0	143.0	145.0					9																	5921788		1894	4113	6007	5911788	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4208C>A	9.37:g.5921788G>T	ENSP00000382815:p.Ser1403Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	5911788	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	10.73	1.431863	0.25813	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.28	4.28	0.50868	.	0.112969	0.39341	N	0.001395	T	0.56046	0.1959	L	0.27053	0.805	0.30600	N	0.760616	D	0.71674	0.998	D	0.70935	0.971	T	0.61013	-0.7148	9	0.72032	D	0.01	-7.4123	16.9025	0.86117	0.0:0.0:1.0:0.0	.	1403	Q5HYC2	K2026_HUMAN	Y	1403;1373	.	ENSP00000370870:S1373Y	S	-	2	0	KIAA2026	5911788	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	6.564000	0.73969	2.222000	0.72286	0.484000	0.47621	TCT		0.393	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
IL33	90865	broad.mit.edu	37	9	6250494	6250494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:6250494G>T	ENST00000381434.3	+	2	125	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	IL33_ENST00000456383.2_Nonsense_Mutation_p.E38*|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	38	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.E38*(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GAAGGCCAAAGAAGTTTGCCC	0.408																																					p.E38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G112T	9						.						101.0	98.0	99.0					9																	6250494		2203	4300	6503	6240494	SO:0001587	stop_gained	90865	exon3			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.112G>T	9.37:g.6250494G>T	ENSP00000370842:p.Glu38*	Somatic		Capture	Illumina HiSeq	Phase_I	6240494	NM_001199640	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Nonsense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608314	0.46527	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	.	.	.	4.54	2.53	0.30540	.	0.606220	0.15841	N	0.242007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.3743	6.1683	0.20402	0.2517:0.0:0.7483:0.0	.	.	.	.	X	38	.	ENSP00000370842:E38X	E	+	1	0	IL33	6240494	0.043000	0.20138	0.004000	0.12327	0.025000	0.11179	0.944000	0.29043	0.730000	0.32425	0.591000	0.81541	GAA		0.408	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439	
TPD52L3	89882	broad.mit.edu	37	9	6328677	6328677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:6328677G>A	ENST00000344545.5	+	1	329	c.82G>A	c.(82-84)Gag>Aag	p.E28K	TPD52L3_ENST00000381428.1_Missense_Mutation_p.E28K|TPD52L3_ENST00000314556.3_Missense_Mutation_p.E28K	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	28								p.E28K(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GACAGAGCCCGAGCAAAGAGA	0.502																																					p.E28K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G82A	9						.						88.0	87.0	87.0					9																	6328677		2203	4300	6503	6318677	SO:0001583	missense	89882	exon1			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.82G>A	9.37:g.6328677G>A	ENSP00000341677:p.Glu28Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6318677	NM_001001875	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176379	0.57692	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.38887	1.11;1.11;1.11	4.58	0.408	0.16377	.	0.211412	0.38663	N	0.001616	T	0.55625	0.1932	M	0.86953	2.85	0.09310	N	0.999998	D;D;D	0.61697	0.961;0.982;0.99	P;P;P	0.54924	0.473;0.764;0.726	T	0.52200	-0.8607	10	0.87932	D	0	-4.774	7.9102	0.29787	0.0923:0.4812:0.4265:0.0	.	28;28;28	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	K	28	ENSP00000341677:E28K;ENSP00000370836:E28K;ENSP00000318665:E28K	ENSP00000318665:E28K	E	+	1	0	TPD52L3	6318677	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.248000	0.18198	-0.008000	0.14320	0.511000	0.50034	GAG		0.502	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516	
GLDC	2731	broad.mit.edu	37	9	6587248	6587248	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:6587248G>T	ENST00000321612.6	-	15	1893	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	581					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.P581P(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GAGGCACAAAGGGGTGGATGT	0.378																																					p.P581P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1743A	9						.						95.0	88.0	91.0					9																	6587248		2203	4300	6503	6577248	SO:0001819	synonymous_variant	2731	exon15			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1743C>A	9.37:g.6587248G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6577248	NM_000170	Q2M2F8	Silent	SNP	ENST00000321612.6	37	CCDS34987.1																																																																																				0.378	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
PTPRD	5789	broad.mit.edu	37	9	8375974	8375974	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:8375974A>G	ENST00000381196.4	-	36	5166	c.4623T>C	c.(4621-4623)tgT>tgC	p.C1541C	PTPRD_ENST00000397617.3_Silent_p.C1134C|PTPRD_ENST00000397606.3_Silent_p.C1134C|PTPRD_ENST00000358503.5_Silent_p.C1519C|PTPRD_ENST00000397611.3_Silent_p.C1131C|PTPRD_ENST00000360074.4_Silent_p.C1528C|PTPRD_ENST00000356435.5_Silent_p.C1541C|PTPRD_ENST00000355233.5_Silent_p.C1135C|PTPRD_ENST00000537002.1_Silent_p.C1131C|PTPRD_ENST00000540109.1_Silent_p.C1541C|PTPRD_ENST00000486161.1_Silent_p.C1134C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1541	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C1541C(1)|p.C1012C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGGGAGGGTTACAGGTTTTGA	0.473										TSP Lung(15;0.13)																											p.C1131C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T3393C	9						.						120.0	106.0	110.0					9																	8375974		2203	4299	6502	8365974	SO:0001819	synonymous_variant	5789	exon23			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4623T>C	9.37:g.8375974A>G		Somatic		Capture	Illumina HiSeq	Phase_I	8365974	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	broad.mit.edu	37	9	8507303	8507303	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:8507303C>T	ENST00000381196.4	-	19	2218	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	PTPRD_ENST00000397617.3_Missense_Mutation_p.E549K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E549K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E546K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E556K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E546K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E559K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E559K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E556K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E559K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E559K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	559	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E559K(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCTTACCTCCTCTCCATGC	0.418										TSP Lung(15;0.13)																											p.E556K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1666A	9						.						203.0	178.0	186.0					9																	8507303		2203	4300	6503	8497303	SO:0001583	missense	5789	exon10			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1675G>A	9.37:g.8507303C>T	ENSP00000370593:p.Glu559Lys	Somatic		Capture	Illumina HiSeq	Phase_I	8497303	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445959	0.43429	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.61;0.61;0.61;0.61;0.42;0.61;0.61	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	L	0.49699	1.58	0.80722	D	1	B;B;B;P;B;B;B;D;B	0.63880	0.022;0.002;0.015;0.589;0.004;0.018;0.35;0.993;0.042	B;B;B;B;B;B;B;P;B	0.62014	0.098;0.05;0.046;0.403;0.012;0.059;0.152;0.897;0.034	T	0.60816	-0.7188	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	549;553;559;559;556;556;546;559;559	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	559;559;546;546;559;549;556;556;559;559;559;549	ENSP00000370593:E559K;ENSP00000348812:E559K;ENSP00000353187:E546K;ENSP00000351293:E546K;ENSP00000347373:E559K;ENSP00000380741:E549K;ENSP00000380735:E556K;ENSP00000440515:E556K;ENSP00000438164:E559K;ENSP00000417093:E559K;ENSP00000380731:E549K	.	E	-	1	0	PTPRD	8497303	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.748000	0.68697	2.880000	0.98712	0.650000	0.86243	GAG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
FREM1	158326	broad.mit.edu	37	9	14776171	14776171	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:14776171C>T	ENST00000380880.3	-	25	5256	c.4473G>A	c.(4471-4473)gaG>gaA	p.E1491E	FREM1_ENST00000422223.2_Silent_p.E1491E|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380881.4_Silent_p.E1492E|FREM1_ENST00000380894.1_Silent_p.E27E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1491					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.E1492E(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACACCCCGTGCTCGGTCCGCA	0.542																																					p.E1491E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4473A	9						.						50.0	55.0	54.0					9																	14776171		2034	4183	6217	14766171	SO:0001819	synonymous_variant	158326	exon26			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4473G>A	9.37:g.14776171C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14766171	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.542	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14841511	14841511	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:14841511G>T	ENST00000380880.3	-	10	2598	c.1815C>A	c.(1813-1815)atC>atA	p.I605I	FREM1_ENST00000422223.2_Silent_p.I605I|FREM1_ENST00000380881.4_Silent_p.I606I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	605					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.I606I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATCTTCAAAGATTTCTCCAC	0.408																																					p.I605I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1815A	9						.						95.0	89.0	91.0					9																	14841511		1832	4089	5921	14831511	SO:0001819	synonymous_variant	158326	exon11			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1815C>A	9.37:g.14841511G>T		Somatic		Capture	Illumina HiSeq	Phase_I	14831511	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.408	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
SNAPC3	6619	broad.mit.edu	37	9	15457949	15457949	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:15457949G>A	ENST00000380821.3	+	8	1156					NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ATTTTCCCACGAACAAAAGGC	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						119.0	111.0	114.0					9																	15457949		2203	4300	6503	15447949	SO:0001627	intron_variant	6619	.			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.981-9G>A	9.37:g.15457949G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15447949	.	D3DRI8|Q2VPI6|Q5T285	Intron	SNP	ENST00000380821.3	37	CCDS6478.1																																																																																				0.338	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
CCDC171	203238	broad.mit.edu	37	9	15571671	15571671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:15571671G>T	ENST00000380701.3	+	3	419	c.91G>T	c.(91-93)Gag>Tag	p.E31*	CCDC171_ENST00000535968.1_Nonsense_Mutation_p.E31*|CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E31*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	31								p.E31*(1)									AAATGAAACAGAGTTGGATAT	0.299																																					p.E31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G91T	9						.						78.0	88.0	85.0					9																	15571671		2203	4287	6490	15561671	SO:0001587	stop_gained	203238	exon3			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.91G>T	9.37:g.15571671G>T	ENSP00000370077:p.Glu31*	Somatic		Capture	Illumina HiSeq	Phase_I	15561671	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	39	7.833053	0.98516	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	.	.	.	5.39	5.39	0.77823	.	0.352176	0.28414	N	0.015432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.802	18.2885	0.90121	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000297641:E31X	E	+	1	0	C9orf93	15561671	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.688000	0.68227	2.685000	0.91497	0.585000	0.79938	GAG		0.299	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
CCDC171	203238	broad.mit.edu	37	9	15846717	15846717	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:15846717G>T	ENST00000380701.3	+	22	3613	c.3285G>T	c.(3283-3285)aaG>aaT	p.K1095N	CCDC171_ENST00000297641.3_Missense_Mutation_p.K1095N	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1095								p.K1095N(1)									CCGAGGCAAAGATGGAGCTGA	0.443																																					p.K1095N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3285T	9						.						78.0	73.0	75.0					9																	15846717		2203	4300	6503	15836717	SO:0001583	missense	203238	exon22			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3285G>T	9.37:g.15846717G>T	ENSP00000370077:p.Lys1095Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15836717	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370374|3.370374	0.61624|0.61624	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575;ENST00000432954	T;T|.	0.69040|.	-0.37;-0.37|.	5.82|5.82	4.92|4.92	0.64577|0.64577	.|.	0.052739|.	0.85682|.	D|.	0.000000|.	T|T	0.55000|0.55000	0.1893|0.1893	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.68943|.	0.961;0.915;0.961|.	T|T	0.48410|0.48410	-0.9038|-0.9038	10|5	0.62326|.	D|.	0.03|.	-18.0614|-18.0614	15.1971|15.1971	0.73100|0.73100	0.0683:0.0:0.9317:0.0|0.0683:0.0:0.9317:0.0	.|.	1103;362;1095|.	B7ZM22;A6NK04;Q6TFL3|.	.;.;CI093_HUMAN|.	N|I	1095;362;1095|335;149	ENSP00000297641:K1095N;ENSP00000370077:K1095N|.	ENSP00000297641:K1095N|.	K|R	+|+	3|2	2|0	C9orf93|C9orf93	15836717|15836717	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.798000|2.798000	0.47884|0.47884	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.443	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
CCDC171	203238	broad.mit.edu	37	9	15874673	15874673	+	Intron	SNP	A	A	C	rs372299092		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:15874673A>C	ENST00000380701.3	+	24	3928				CCDC171_ENST00000486641.2_Intron|CCDC171_ENST00000297641.3_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171									p.?(1)									TTAGAGTCTAAATAACATTGT	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						68.0	66.0	66.0					9																	15874673		2203	4300	6503	15864673	SO:0001627	intron_variant	203238	.			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3600+12A>C	9.37:g.15874673A>C		Somatic		Capture	Illumina HiSeq	Phase_I	15864673	.	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Intron	SNP	ENST00000380701.3	37	CCDS6481.1																																																																																				0.428	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
BNC2	54796	broad.mit.edu	37	9	16419048	16419048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:16419048C>T	ENST00000380672.4	-	7	3296	c.3239G>A	c.(3238-3240)cGa>cAa	p.R1080Q	BNC2_ENST00000380667.2_Missense_Mutation_p.R1013Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R985Q	NM_017637.5	NP_060107.3			basonuclin 2									p.R1080Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGCCGATTTCGGCTTCGTAC	0.448																																					p.R1080Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3239A	9						.						152.0	142.0	145.0					9																	16419048		2203	4300	6503	16409048	SO:0001583	missense	54796	exon7			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3239G>A	9.37:g.16419048C>T	ENSP00000370047:p.Arg1080Gln	Somatic		Capture	Illumina HiSeq	Phase_I	16409048	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356839	0.82243	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.60548	1.62;0.18;0.18	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.81914	0.995;0.968;0.982	T	0.73827	-0.3860	10	0.54805	T	0.06	-8.2287	20.6721	0.99693	0.0:1.0:0.0:0.0	.	985;1080;845	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	Q	1080;1013;985	ENSP00000370047:R1080Q;ENSP00000370042:R1013Q;ENSP00000444640:R985Q	ENSP00000370042:R1013Q	R	-	2	0	BNC2	16409048	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	CGA		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
CNTLN	54875	broad.mit.edu	37	9	17236537	17236537	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:17236537A>G	ENST00000380647.3	+	5	884	c.800A>G	c.(799-801)cAg>cGg	p.Q267R	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q267R|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q267R|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q267R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	267					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q267R(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGAGGAAGCAGGAAGCACAT	0.363																																					p.Q267R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A800G	9						.						103.0	102.0	102.0					9																	17236537		1838	4090	5928	17226537	SO:0001583	missense	54875	exon5			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.800A>G	9.37:g.17236537A>G	ENSP00000370021:p.Gln267Arg	Somatic		Capture	Illumina HiSeq	Phase_I	17226537	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297883	0.23650	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.64	5.64	0.86602	.	.	.	.	.	T	0.10508	0.0257	L	0.59436	1.845	0.27980	N	0.936056	B;B;B	0.21821	0.061;0.061;0.006	B;B;B	0.19391	0.025;0.015;0.004	T	0.14476	-1.0471	9	0.23891	T	0.37	.	10.7094	0.45973	0.9248:0.0:0.0752:0.0	.	267;267;267	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	R	267	ENSP00000370021:Q267R;ENSP00000392798:Q267R;ENSP00000262360:Q267R;ENSP00000370015:Q267R	ENSP00000262360:Q267R	Q	+	2	0	CNTLN	17226537	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.754000	0.55189	2.143000	0.66587	0.482000	0.46254	CAG		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
CNTLN	54875	broad.mit.edu	37	9	17366696	17366696	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:17366696T>C	ENST00000380647.3	+	13	2052	c.1968T>C	c.(1966-1968)tgT>tgC	p.C656C	CNTLN_ENST00000425824.1_Silent_p.C656C|CNTLN_ENST00000262360.5_Silent_p.C656C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	656					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.C656C(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGAATAGATGTGTGGCAGAGA	0.269																																					p.C656C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1968C	9						.						79.0	80.0	79.0					9																	17366696		1795	4038	5833	17356696	SO:0001819	synonymous_variant	54875	exon13			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1968T>C	9.37:g.17366696T>C		Somatic		Capture	Illumina HiSeq	Phase_I	17356696	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	CCDS43789.1																																																																																				0.269	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
ADAMTSL1	92949	broad.mit.edu	37	9	18753445	18753445	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:18753445C>T	ENST00000380548.4	+	16	2495	c.2156C>T	c.(2155-2157)aCg>aTg	p.T719M		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	719	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T719M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGCCCAGCACGGTGCAAGCT	0.532																																					p.T719M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2156T	9						.						43.0	44.0	44.0					9																	18753445		2059	4214	6273	18743445	SO:0001583	missense	92949	exon16			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2156C>T	9.37:g.18753445C>T	ENSP00000369921:p.Thr719Met	Somatic		Capture	Illumina HiSeq	Phase_I	18743445	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165158	0.38217	.	.	ENSG00000178031	ENST00000380548	T	0.61274	0.12	5.6	4.59	0.56863	.	0.071793	0.08080	U	1.000000	T	0.48314	0.1493	L	0.52206	1.635	0.80722	D	1	B	0.23185	0.081	B	0.16289	0.015	T	0.56001	-0.8051	10	0.39692	T	0.17	.	3.6604	0.08237	0.0:0.6533:0.0:0.3467	.	719	Q8N6G6	ATL1_HUMAN	M	719	ENSP00000369921:T719M	ENSP00000369921:T719M	T	+	2	0	ADAMTSL1	18743445	0.908000	0.30866	0.955000	0.39395	0.768000	0.43524	4.129000	0.57957	2.639000	0.89480	0.561000	0.74099	ACG		0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ADAMTSL1	92949	broad.mit.edu	37	9	18795428	18795428	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:18795428C>A	ENST00000380548.4	+	20	4050	c.3711C>A	c.(3709-3711)atC>atA	p.I1237I	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1237	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I1237I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTACAGATCTTGGCACCAG	0.458																																					p.I1237I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3711A	9						.						124.0	119.0	120.0					9																	18795428		1934	4139	6073	18785428	SO:0001819	synonymous_variant	92949	exon20			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3711C>A	9.37:g.18795428C>A		Somatic		Capture	Illumina HiSeq	Phase_I	18785428	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				0.458	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
SLC24A2	25769	broad.mit.edu	37	9	19786464	19786464	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:19786464G>A	ENST00000341998.2	-	1	462	c.401C>T	c.(400-402)gCg>gTg	p.A134V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A134V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	134					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.A134V(3)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CAGAATGATCGCACCTTTTCT	0.433																																					p.A134V												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C401T	9						.						104.0	99.0	101.0					9																	19786464		2203	4300	6503	19776464	SO:0001583	missense	25769	exon2			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.401C>T	9.37:g.19786464G>A	ENSP00000344801:p.Ala134Val	Somatic		Capture	Illumina HiSeq	Phase_I	19776464	NM_020344	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638031	0.67130	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77489	-1.09;-1.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.74881	2.28	0.80722	D	1	P;D	0.69078	0.952;0.997	P;P	0.53760	0.526;0.734	D	0.84699	0.0727	9	.	.	.	.	19.967	0.97274	0.0:0.0:1.0:0.0	.	134;134	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	V	134	ENSP00000344801:A134V;ENSP00000286344:A134V	.	A	-	2	0	SLC24A2	19776464	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	6.562000	0.73960	2.714000	0.92807	0.655000	0.94253	GCG		0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	
IFNA4	3441	broad.mit.edu	37	9	21187469	21187469	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21187469G>T	ENST00000421715.1	-	1	129	c.62C>A	c.(61-63)tCt>tAt	p.S21Y		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	21					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S21Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACAGCCCAGAGAACAGATGGA	0.498																																					p.S21Y	NSCLC(154;890 1986 23660 27800 51138)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C62A	9						.						28.0	31.0	30.0					9																	21187469		2200	4278	6478	21177469	SO:0001583	missense	3441	exon1				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.62C>A	9.37:g.21187469G>T	ENSP00000412897:p.Ser21Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21177469	NM_021068	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	g	10.89	1.479171	0.26511	.	.	ENSG00000236637	ENST00000421715	T	0.06142	3.34	2.96	0.926	0.19430	Four-helical cytokine-like, core (1);	0.574821	0.16675	N	0.204194	T	0.15392	0.0371	M	0.93241	3.395	0.19945	N	0.999943	B	0.25169	0.119	B	0.27380	0.079	T	0.12477	-1.0546	10	0.72032	D	0.01	.	10.0408	0.42158	0.0:0.3969:0.6031:0.0	.	21	P05014	IFNA4_HUMAN	Y	21	ENSP00000412897:S21Y	ENSP00000412897:S21Y	S	-	2	0	IFNA4	21177469	0.000000	0.05858	0.052000	0.19188	0.292000	0.27327	-0.117000	0.10708	0.081000	0.16988	0.485000	0.47835	TCT		0.498	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068	
IFNA7	3444	broad.mit.edu	37	9	21201841	21201841	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21201841A>C	ENST00000239347.3	-	1	363	c.324T>G	c.(322-324)ttT>ttG	p.F108L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	108					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.F108L(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTTCAGTGGAAAATTTTTCTA	0.488																																					p.F108L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T324G	9						.						52.0	60.0	57.0					9																	21201841		2202	4278	6480	21191841	SO:0001583	missense	3444	exon1				CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.324T>G	9.37:g.21201841A>C	ENSP00000239347:p.Phe108Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21191841	NM_021057	Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	A	1.066	-0.671338	0.03403	.	.	ENSG00000214042	ENST00000239347	T	0.03745	3.82	3.56	-7.13	0.01532	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.519140	0.21634	N	0.071427	T	0.01835	0.0058	N	0.16903	0.455	0.09310	N	1	B	0.17852	0.024	B	0.34242	0.178	T	0.42103	-0.9471	10	0.09843	T	0.71	.	4.2333	0.10613	0.082:0.3188:0.3843:0.2149	.	108	P01567	IFNA7_HUMAN	L	108	ENSP00000239347:F108L	ENSP00000239347:F108L	F	-	3	2	IFNA7	21191841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-1.686000	0.01439	-2.773000	0.00119	TTT		0.488	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057	
IFNA16	3449	broad.mit.edu	37	9	21217155	21217155	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21217155G>T	ENST00000380216.1	-	1	155	c.150C>A	c.(148-150)ttC>ttA	p.F50L		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	50					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.F50L(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCAGGCAGGAGAAATGAGAGA	0.502																																					p.F50L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C150A	9						.						104.0	105.0	105.0					9																	21217155		2203	4300	6503	21207155	SO:0001583	missense	3449	exon1				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.150C>A	9.37:g.21217155G>T	ENSP00000369564:p.Phe50Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21207155	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	1.753	-0.488875	0.04352	.	.	ENSG00000147885	ENST00000380216	T	0.04706	3.57	2.62	0.311	0.15831	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.958170	0.02381	N	0.078777	T	0.04815	0.0130	L	0.39085	1.19	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.42120	-0.9470	10	0.16420	T	0.52	.	4.362	0.11206	0.1552:0.3407:0.5041:0.0	.	50	P05015	IFN16_HUMAN	L	50	ENSP00000369564:F50L	ENSP00000369564:F50L	F	-	3	2	IFNA16	21207155	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.208000	0.17415	0.402000	0.25451	0.184000	0.17185	TTC		0.502	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173	
KLHL9	55958	broad.mit.edu	37	9	21333218	21333218	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21333218G>A	ENST00000359039.4	-	1	2161	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	KLHL9_ENST00000537938.1_Silent_p.I479I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	547					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.I547I(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CAACAACATAGATTTTATTTT	0.398																																					p.I547I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	9						.						159.0	156.0	157.0					9																	21333218		2203	4300	6503	21323218	SO:0001819	synonymous_variant	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1641C>T	9.37:g.21333218G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21323218	NM_018847	Q8TCQ2	Silent	SNP	ENST00000359039.4	37	CCDS6503.1																																																																																				0.398	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
KLHL9	55958	broad.mit.edu	37	9	21334512	21334512	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21334512G>T	ENST00000359039.4	-	1	867	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	KLHL9_ENST00000537938.1_Missense_Mutation_p.S48Y			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	116	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.S116Y(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CATATTAAGAGAAAGTTTTGC	0.343																																					p.S116Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347A	9						.						67.0	69.0	68.0					9																	21334512		2203	4300	6503	21324512	SO:0001583	missense	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.347C>A	9.37:g.21334512G>T	ENSP00000351933:p.Ser116Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21324512	NM_018847	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	7.856	0.725013	0.15439	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.68765	-0.35;-0.35	5.49	4.58	0.56647	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.61703	1.905	0.58432	D	0.999996	B	0.26318	0.146	B	0.29663	0.105	T	0.60454	-0.7260	10	0.24483	T	0.36	.	14.3891	0.66965	0.0:0.1491:0.8509:0.0	.	116	Q9P2J3	KLHL9_HUMAN	Y	116;48	ENSP00000351933:S116Y;ENSP00000437733:S48Y	ENSP00000351933:S116Y	S	-	2	0	KLHL9	21324512	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.764000	0.98949	1.447000	0.47661	-0.175000	0.13238	TCT		0.343	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
IFNA6	3443	broad.mit.edu	37	9	21350605	21350605	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21350605C>A	ENST00000380210.1	-	1	772	c.282G>T	c.(280-282)aaG>aaT	p.K94N		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	94					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.K94N(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAGATGAGTCCTTTGTGCTGA	0.498																																					p.K94N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282T	9						.						111.0	110.0	110.0					9																	21350605		2203	4300	6503	21340605	SO:0001583	missense	3443	exon1				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.282G>T	9.37:g.21350605C>A	ENSP00000369558:p.Lys94Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21340605	NM_021002	Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547897	0.27652	.	.	ENSG00000120235	ENST00000380210	T	0.05139	3.49	3.78	-4.85	0.03142	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.039700	0.07546	N	0.914711	T	0.04363	0.0120	L	0.33710	1.025	0.09310	N	1	B	0.14012	0.009	B	0.23852	0.049	T	0.48658	-0.9016	10	0.72032	D	0.01	.	0.6834	0.00878	0.3092:0.2177:0.2889:0.1843	.	94	P05013	IFNA6_HUMAN	N	94	ENSP00000369558:K94N	ENSP00000369558:K94N	K	-	3	2	IFNA6	21340605	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.512000	0.06313	-0.556000	0.06134	-1.564000	0.00881	AAG		0.498	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002	
IFNA6	3443	broad.mit.edu	37	9	21350750	21350750	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21350750C>A	ENST00000380210.1	-	1	627	c.137G>T	c.(136-138)aGa>aTa	p.R46I		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	46					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R46I(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAGAGAGATTCTCCTCATTTG	0.527																																					p.R46I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137T	9						.						106.0	105.0	106.0					9																	21350750		2203	4300	6503	21340750	SO:0001583	missense	3443	exon1				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.137G>T	9.37:g.21350750C>A	ENSP00000369558:p.Arg46Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21340750	NM_021002	Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456842	0.84317	.	.	ENSG00000120235	ENST00000380210	T	0.06768	3.26	3.78	2.79	0.32731	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.383801	0.29266	N	0.012658	T	0.30293	0.0760	M	0.93978	3.48	0.29721	N	0.838677	D	0.61697	0.99	D	0.65443	0.935	T	0.20773	-1.0265	10	0.87932	D	0	.	5.7586	0.18186	0.0:0.6786:0.2021:0.1193	.	46	P05013	IFNA6_HUMAN	I	46	ENSP00000369558:R46I	ENSP00000369558:R46I	R	-	2	0	IFNA6	21340750	0.000000	0.05858	0.863000	0.33907	0.938000	0.57974	-0.160000	0.10041	1.787000	0.52448	0.591000	0.81541	AGA		0.527	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002	
CDKN2A	1029	broad.mit.edu	37	9	21974608	21974608	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:21974608T>G	ENST00000304494.5	-	1	421				CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(10)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTGATTCCAATTCCCCTGCAA	0.592		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.E73D												.	.	1327	Whole gene deletion(1316)|Unknown(10)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(162)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	c.A219C	9						.						162.0	187.0	179.0					9																	21974608		2203	4300	6503	21964608	SO:0001627	intron_variant	1029	exon1			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+68A>C	9.37:g.21974608T>G		Somatic		Capture	Illumina HiSeq	Phase_I	21964608	NM_058197	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1																																																																																				0.592	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
DMRTA1	63951	broad.mit.edu	37	9	22451144	22451144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:22451144C>A	ENST00000325870.2	+	2	974	c.749C>A	c.(748-750)tCa>tAa	p.S250*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	250					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S250*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TACCTAGGATCATCTTCTAGG	0.423																																					p.S250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C749A	9						.						94.0	92.0	93.0					9																	22451144		2203	4300	6503	22441144	SO:0001587	stop_gained	63951	exon2			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.749C>A	9.37:g.22451144C>A	ENSP00000319651:p.Ser250*	Somatic		Capture	Illumina HiSeq	Phase_I	22441144	NM_022160	A1L481|Q8N8Y9|Q9H4B9	Nonsense_Mutation	SNP	ENST00000325870.2	37	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645691	0.96704	.	.	ENSG00000176399	ENST00000325870	.	.	.	5.87	5.87	0.94306	.	0.658167	0.16479	N	0.212645	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3053	19.3531	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000319651:S250X	S	+	2	0	DMRTA1	22441144	0.999000	0.42202	0.866000	0.34008	0.275000	0.26752	3.602000	0.54066	2.941000	0.99782	0.655000	0.94253	TCA		0.423	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2		
TEK	7010	broad.mit.edu	37	9	27109607	27109607	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:27109607T>G	ENST00000380036.4	+	1	461	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TEK_ENST00000406359.4_Missense_Mutation_p.L7V|TEK_ENST00000519097.1_Missense_Mutation_p.L7V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	7					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L7V(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTTAGCCAGCTTAGTTCTCTG	0.413																																					p.L7V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T19G	9						.						260.0	239.0	246.0					9																	27109607		2203	4300	6503	27099607	SO:0001583	missense	7010	exon1			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.19T>G	9.37:g.27109607T>G	ENSP00000369375:p.Leu7Val	Somatic		Capture	Illumina HiSeq	Phase_I	27099607	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876253	0.33162	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.75154	-0.8;-0.78;-0.91;2.87	5.5	1.78	0.24846	.	0.205159	0.24422	N	0.038664	T	0.54565	0.1866	N	0.24115	0.695	0.24096	N	0.995898	B;B;B;B;B	0.23591	0.037;0.088;0.013;0.013;0.088	B;B;B;B;B	0.22753	0.025;0.041;0.011;0.004;0.041	T	0.48364	-0.9042	10	0.72032	D	0.01	.	3.2204	0.06713	0.2773:0.2655:0.0:0.4572	.	7;40;7;7;7	E7EWI2;Q59HG2;B5A953;E5RIV9;Q02763	.;.;.;.;TIE2_HUMAN	V	7	ENSP00000430686:L7V;ENSP00000369375:L7V;ENSP00000383977:L7V;ENSP00000428337:L7V	ENSP00000343716:L7V	L	+	1	2	TEK	27099607	0.989000	0.36119	0.987000	0.45799	0.984000	0.73092	0.171000	0.16685	0.113000	0.18004	-0.433000	0.05886	TTA		0.413	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
MOB3B	79817	broad.mit.edu	37	9	27359143	27359143	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:27359143G>A	ENST00000262244.5	-	3	934	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	170							metal ion binding (GO:0046872)	p.F170F(1)									TGACCCGGTCGAAGTGGTGGA	0.498																																					p.F170F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510T	9						.						178.0	181.0	180.0					9																	27359143		2203	4300	6503	27349143	SO:0001819	synonymous_variant	79817	exon3			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.510C>T	9.37:g.27359143G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27349143	NM_024761	Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	CCDS6520.1																																																																																				0.498	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	
LINGO2	158038	broad.mit.edu	37	9	27949138	27949138	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:27949138G>A	ENST00000379992.2	-	6	1981	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	LINGO2_ENST00000308675.3_Missense_Mutation_p.A511V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	511						integral component of membrane (GO:0016021)		p.A511V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTCCTGTTCGCATAAAGAAA	0.453																																					p.A511V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1532T	9						.						152.0	148.0	149.0					9																	27949138		2203	4300	6503	27939138	SO:0001583	missense	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1532C>T	9.37:g.27949138G>A	ENSP00000369328:p.Ala511Val	Somatic		Capture	Illumina HiSeq	Phase_I	27939138	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653659	0.14580	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57595	0.39;0.39	5.83	5.83	0.93111	.	0.052119	0.85682	D	0.000000	T	0.34019	0.0883	N	0.08118	0	0.58432	D	0.999998	B	0.27765	0.188	B	0.19148	0.024	T	0.16100	-1.0414	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	511	Q7L985	LIGO2_HUMAN	V	511	ENSP00000369328:A511V;ENSP00000310126:A511V	.	A	-	2	0	LINGO2	27939138	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.524000	0.73791	2.769000	0.95229	0.655000	0.94253	GCG		0.453	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
ACO1	48	broad.mit.edu	37	9	32405519	32405519	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32405519C>T	ENST00000309951.6	+	2	153	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000379923.1_Silent_p.F5F	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	5					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.F5F(1)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCAACCCATTCGCACACCTTG	0.398																																					p.F5F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15T	9						.						81.0	76.0	78.0					9																	32405519		2203	4300	6503	32395519	SO:0001819	synonymous_variant	48	exon2			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.15C>T	9.37:g.32405519C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32395519	NM_002197	D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	CCDS6525.1																																																																																				0.398	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
DDX58	23586	broad.mit.edu	37	9	32481340	32481340	+	Missense_Mutation	SNP	G	G	A	rs377702259		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32481340G>A	ENST00000379883.2	-	11	1793	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	DDX58_ENST00000542096.1_Missense_Mutation_p.R475W|DDX58_ENST00000379882.1_Missense_Mutation_p.R501W|DDX58_ENST00000379868.1_Missense_Mutation_p.R343W|DDX58_ENST00000545044.1_Missense_Mutation_p.R343W	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	546	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R546W(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GAACGTACCCGCAAATGTGAA	0.448																																					p.R546W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1636T	9						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	119.0	126.0		1636	2.8	1.0	9		126	0,8600		0,0,4300	no	missense	DDX58	NM_014314.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	546/926	32481340	1,13005	2203	4300	6503	32471340	SO:0001583	missense	23586	exon11			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1636C>T	9.37:g.32481340G>A	ENSP00000369213:p.Arg546Trp	Somatic		Capture	Illumina HiSeq	Phase_I	32471340	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840790	0.71488	2.27E-4	0.0	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.77	2.75	0.32379	.	0.000000	0.64402	D	0.000002	T	0.72011	0.3408	M	0.88775	2.98	0.44508	D	0.99745	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.995;0.998	T	0.73043	-0.4107	10	0.42905	T	0.14	-5.8222	8.896	0.35465	0.0834:0.0:0.7688:0.1479	.	343;501;475;546	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	W	501;546;343;475;343	ENSP00000369212:R501W;ENSP00000369213:R546W;ENSP00000369197:R343W;ENSP00000442160:R475W;ENSP00000443055:R343W	ENSP00000369197:R343W	R	-	1	2	DDX58	32471340	0.999000	0.42202	0.997000	0.53966	0.978000	0.69477	0.986000	0.29590	1.308000	0.44962	0.655000	0.94253	CGG		0.448	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314	
TOPORS	10210	broad.mit.edu	37	9	32542375	32542375	+	Silent	SNP	G	G	A	rs534139603		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32542375G>A	ENST00000360538.2	-	3	2264	c.2148C>T	c.(2146-2148)taC>taT	p.Y716Y	TOPORS_ENST00000379858.1_Silent_p.Y651Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	716	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y716Y(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AAGATGATTCGTACCCATCCC	0.373																																					p.Y651Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1953T	9						.						201.0	211.0	207.0					9																	32542375		2203	4300	6503	32532375	SO:0001819	synonymous_variant	10210	exon2			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2148C>T	9.37:g.32542375G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32532375	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	CCDS6527.1																																																																																				0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TAF1L	138474	broad.mit.edu	37	9	32630502	32630502	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32630502G>T	ENST00000242310.4	-	1	5165	c.5076C>A	c.(5074-5076)gtC>gtA	p.V1692V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1692					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.V1692V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAATATCCAAGACAGACAAAT	0.478																																					p.V1692V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5076A	9						.						184.0	165.0	171.0					9																	32630502		2203	4300	6503	32620502	SO:0001819	synonymous_variant	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5076C>A	9.37:g.32630502G>T		Somatic		Capture	Illumina HiSeq	Phase_I	32620502	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32633489	32633489	+	Missense_Mutation	SNP	G	G	T	rs142791270		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32633489G>T	ENST00000242310.4	-	1	2178	c.2089C>A	c.(2089-2091)Ctt>Att	p.L697I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	697					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.L697I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAAGAATAAGATCTCCATCT	0.428																																					p.L697I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2089A	9						.	G	ILE/LEU	1,4405	2.1+/-5.4	0,1,2202	173.0	162.0	166.0		2089	0.6	1.0	9	dbSNP_134	166	0,8600		0,0,4300	no	missense	TAF1L	NM_153809.2	5	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	697/1827	32633489	1,13005	2203	4300	6503	32623489	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2089C>A	9.37:g.32633489G>T	ENSP00000418379:p.Leu697Ile	Somatic		Capture	Illumina HiSeq	Phase_I	32623489	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414626	0.25465	2.27E-4	0.0	ENSG00000122728	ENST00000242310	T	0.14516	2.5	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	N	0.10760	0.04	0.48236	D	0.99961	P	0.44659	0.84	P	0.47786	0.557	T	0.39375	-0.9617	10	0.14656	T	0.56	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	697	Q8IZX4	TAF1L_HUMAN	I	697	ENSP00000418379:L697I	ENSP00000418379:L697I	L	-	1	0	TAF1L	32623489	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	6.193000	0.72075	0.632000	0.30432	0.195000	0.17529	CTT		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32634481	32634481	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32634481C>T	ENST00000242310.4	-	1	1186	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	366					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R366Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATACCACAGTCGGGCAGGCCC	0.458																																					p.R366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	9						.						244.0	218.0	227.0					9																	32634481		2203	4300	6503	32624481	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1097G>A	9.37:g.32634481C>T	ENSP00000418379:p.Arg366Gln	Somatic		Capture	Illumina HiSeq	Phase_I	32624481	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427337	0.25726	.	.	ENSG00000122728	ENST00000242310	T	0.40756	1.02	1.04	-0.464	0.12160	.	0.146310	0.48286	N	0.000193	T	0.10723	0.0262	N	0.01267	-0.92	0.28138	N	0.92994	B	0.02656	0.0	B	0.04013	0.001	T	0.30534	-0.9975	10	0.02654	T	1	.	6.2264	0.20710	0.0:0.5893:0.0:0.4107	.	366	Q8IZX4	TAF1L_HUMAN	Q	366	ENSP00000418379:R366Q	ENSP00000418379:R366Q	R	-	2	0	TAF1L	32624481	1.000000	0.71417	0.974000	0.42286	0.563000	0.35712	2.506000	0.45433	-1.301000	0.02338	-1.076000	0.02234	CGA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TMEM215	401498	broad.mit.edu	37	9	32784891	32784891	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:32784891C>A	ENST00000342743.5	+	0	1075					NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215							integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATCGTCTAATCTCTGCCTACA	0.463																																					.												.	.	0			.	9						.						51.0	45.0	47.0					9																	32784891		2000	3956	5956	32774891	SO:0001624	3_prime_UTR_variant	401498	.				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.*2C>A	9.37:g.32784891C>A		Somatic		Capture	Illumina HiSeq	Phase_I	32774891	.	Q6ZUU2	3'UTR	SNP	ENST00000342743.5	37	CCDS6530.1																																																																																				0.463	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
DNAJA1	3301	broad.mit.edu	37	9	33030555	33030555	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:33030555T>C	ENST00000330899.4	+	5	716	c.533T>C	c.(532-534)aTg>aCg	p.M178T	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Missense_Mutation_p.M21T	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	178					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.M178T(1)		large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TCTGTGTGCATGGAGTGCCAG	0.453																																					p.M178T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T533C	9						.						83.0	77.0	79.0					9																	33030555		2203	4300	6503	33020555	SO:0001583	missense	3301	exon5			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.533T>C	9.37:g.33030555T>C	ENSP00000369127:p.Met178Thr	Somatic		Capture	Illumina HiSeq	Phase_I	33020555	NM_001539	Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	T	6.433	0.448001	0.12223	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.59083	0.29;1.65	4.79	4.79	0.61399	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.445172	0.28641	N	0.014622	T	0.29524	0.0736	N	0.03903	-0.33	0.37032	D	0.896715	B;B	0.13594	0.0;0.008	B;B	0.19946	0.001;0.027	T	0.25398	-1.0133	10	0.15952	T	0.53	-10.0674	7.3939	0.26926	0.0:0.099:0.0:0.901	.	178;178	Q86TL9;P31689	.;DNJA1_HUMAN	T	178;21;21	ENSP00000369127:M178T;ENSP00000439010:M21T	ENSP00000369127:M178T	M	+	2	0	DNAJA1	33020555	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.980000	0.29513	1.925000	0.55765	0.260000	0.18958	ATG		0.453	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1		
B4GALT1	2683	broad.mit.edu	37	9	33113458	33113458	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:33113458C>T	ENST00000379731.4	-	6	1377	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	B4GALT1_ENST00000541851.1_Silent_p.P144P|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	397					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.P397P(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	AACGCTAGCTCGGTGTCCCGA	0.498																																					p.P397P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1191A	9						.						188.0	147.0	161.0					9																	33113458		2203	4300	6503	33103458	SO:0001819	synonymous_variant	2683	exon6			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.1191G>A	9.37:g.33113458C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33103458	NM_001497	B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Silent	SNP	ENST00000379731.4	37	CCDS6535.1																																																																																				0.498	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497	
B4GALT1	2683	broad.mit.edu	37	9	33113815	33113815	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:33113815T>C	ENST00000379731.4	-	5	1207	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V	B4GALT1_ENST00000541851.1_Missense_Mutation_p.I88V|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	341				MI -> PA (in Ref. 6; AAA68220). {ECO:0000305}.	acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.I341V(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GAGTGGCGGATCATGCGACAC	0.458																																					p.I341V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1021G	9						.						118.0	110.0	113.0					9																	33113815		2203	4300	6503	33103815	SO:0001583	missense	2683	exon5			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.1021A>G	9.37:g.33113815T>C	ENSP00000369055:p.Ile341Val	Somatic		Capture	Illumina HiSeq	Phase_I	33103815	NM_001497	B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663691	0.67700	.	.	ENSG00000086062	ENST00000379731;ENST00000541701;ENST00000541851	D;D	0.82711	-1.64;-1.64	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	L	0.45470	1.425	0.80722	D	1	P	0.47677	0.899	P	0.47206	0.541	T	0.81428	-0.0937	10	0.37606	T	0.19	-12.9875	14.3464	0.66668	0.0:0.0:0.0:1.0	.	341	P15291	B4GT1_HUMAN	V	341;298;88	ENSP00000369055:I341V;ENSP00000445037:I88V	ENSP00000369055:I341V	I	-	1	0	B4GALT1	33103815	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.936000	0.87665	2.281000	0.76405	0.533000	0.62120	ATC		0.458	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497	
B4GALT1	2683	broad.mit.edu	37	9	33120551	33120551	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:33120551T>G	ENST00000379731.4	-	3	888	c.702A>C	c.(700-702)gaA>gaC	p.E234D	B4GALT1_ENST00000541851.1_5'UTR|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	234					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.E234D(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CCTTCAAGGCTTCTTGAAAGC	0.443																																					p.E234D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A702C	9						.						156.0	127.0	137.0					9																	33120551		2203	4300	6503	33110551	SO:0001583	missense	2683	exon3			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.702A>C	9.37:g.33120551T>G	ENSP00000369055:p.Glu234Asp	Somatic		Capture	Illumina HiSeq	Phase_I	33110551	NM_001497	B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165869	0.57476	.	.	ENSG00000086062	ENST00000379731;ENST00000541701	T	0.35789	1.29	5.71	-1.04	0.10068	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63453	-0.6634	10	0.87932	D	0	-20.8426	5.453	0.16574	0.0:0.2413:0.161:0.5978	.	234	P15291	B4GT1_HUMAN	D	234;191	ENSP00000369055:E234D	ENSP00000369055:E234D	E	-	3	2	B4GALT1	33110551	1.000000	0.71417	0.907000	0.35723	0.187000	0.23431	0.813000	0.27225	-0.049000	0.13379	-0.313000	0.08912	GAA		0.443	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497	
DNAI1	27019	broad.mit.edu	37	9	34489430	34489430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:34489430G>A	ENST00000242317.4	+	5	542	c.371G>A	c.(370-372)cGc>cAc	p.R124H	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	124					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.R124H(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGCATTACCGCGATGAATTA	0.522									Kartagener syndrome																												p.R124H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	9						.						132.0	114.0	120.0					9																	34489430		2203	4300	6503	34479430	SO:0001583	missense	27019	exon5	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.371G>A	9.37:g.34489430G>A	ENSP00000242317:p.Arg124His	Somatic		Capture	Illumina HiSeq	Phase_I	34479430	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487323	0.44249	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;D	0.81659	1.54;-1.52	6.08	2.23	0.28157	.	0.684347	0.14346	N	0.325391	T	0.78162	0.4240	M	0.67397	2.05	0.58432	D	0.999998	P	0.47484	0.896	P	0.46825	0.528	T	0.72577	-0.4251	10	0.41790	T	0.15	.	4.276	0.10809	0.2443:0.0:0.5957:0.16	.	124	Q9UI46	DNAI1_HUMAN	H	113;124;113	ENSP00000242317:R124H;ENSP00000395396:R113H	ENSP00000242317:R124H	R	+	2	0	DNAI1	34479430	0.752000	0.28338	0.453000	0.27007	0.164000	0.22412	1.192000	0.32150	0.455000	0.26910	0.655000	0.94253	CGC		0.522	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
DNAI1	27019	broad.mit.edu	37	9	34500801	34500801	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:34500801A>G	ENST00000242317.4	+	11	1154	c.983A>G	c.(982-984)gAc>gGc	p.D328G		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	328					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.D328G(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TTCCAAAATGACAAAGCCAAG	0.527									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D328G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A983G	9						.						60.0	61.0	60.0					9																	34500801		2203	4300	6503	34490801	SO:0001583	missense	27019	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.983A>G	9.37:g.34500801A>G	ENSP00000242317:p.Asp328Gly	Somatic	848	Capture	Illumina HiSeq	Phase_I	34490801	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228955	0.79688	.	.	ENSG00000122735	ENST00000242317	T	0.75154	-0.91	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.86953	2.85	0.80722	D	1	B	0.32893	0.389	B	0.40741	0.339	D	0.83402	0.0023	10	0.72032	D	0.01	.	12.9332	0.58299	1.0:0.0:0.0:0.0	.	328	Q9UI46	DNAI1_HUMAN	G	328	ENSP00000242317:D328G	ENSP00000242317:D328G	D	+	2	0	DNAI1	34490801	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.383000	0.90157	1.999000	0.58509	0.379000	0.24179	GAC		0.527	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
DNAI1	27019	broad.mit.edu	37	9	34513116	34513116	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:34513116G>A	ENST00000242317.4	+	16	1667	c.1496G>A	c.(1495-1497)gGc>gAc	p.G499D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	499					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.G499D(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAAGGTTGTGGCACTGCCTTT	0.562									Kartagener syndrome																												p.G499D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	9						.						167.0	159.0	162.0					9																	34513116		2203	4300	6503	34503116	SO:0001583	missense	27019	exon16	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1496G>A	9.37:g.34513116G>A	ENSP00000242317:p.Gly499Asp	Somatic		Capture	Illumina HiSeq	Phase_I	34503116	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.780402|4.780402	0.90195|0.90195	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000442556|ENST00000379040;ENST00000242317	.|T	.|0.70516	.|-0.49	5.95|5.95	5.95|5.95	0.96441|0.96441	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88429|0.88429	0.6434|0.6434	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	D|D	0.90877|0.90877	0.4750|0.4750	5|10	.|0.87932	.|D	.|0	.|.	15.8933|15.8933	0.79318|0.79318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|499	.|Q9UI46	.|DNAI1_HUMAN	T|D	3|55;499	.|ENSP00000242317:G499D	.|ENSP00000242317:G499D	A|G	+|+	1|2	0|0	DNAI1|DNAI1	34503116|34503116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.589000|8.589000	0.90817|0.90817	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.562	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
CCL21	6366	broad.mit.edu	37	9	34709684	34709684	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:34709684G>A	ENST00000259607.2	-	3	246				CCL21_ENST00000378792.1_Intron	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21						activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)	p.?(1)		large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGAACCTGCGGGTGGGGGCT	0.602																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						39.0	40.0	39.0					9																	34709684		2203	4300	6503	34699684	SO:0001627	intron_variant	6366	.			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.189-5C>T	9.37:g.34709684G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34699684	.		Intron	SNP	ENST00000259607.2	37	CCDS6571.1																																																																																				0.602	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989	
CCL21	6366	broad.mit.edu	37	9	34709994	34709994	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:34709994T>C	ENST00000259607.2	-	1	125				CCL21_ENST00000378792.1_Intron	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21						activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)	p.?(1)		large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTGCCTTGGTACCTTGGGTC	0.607																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						48.0	45.0	46.0					9																	34709994		2203	4300	6503	34699994	SO:0001627	intron_variant	6366	.			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.67+2A>G	9.37:g.34709994T>C		Somatic		Capture	Illumina HiSeq	Phase_I	34699994	.		Intron	SNP	ENST00000259607.2	37	CCDS6571.1																																																																																				0.607	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989	
C9orf131	138724	broad.mit.edu	37	9	35044145	35044145	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35044145C>T	ENST00000312292.5	+	2	1566	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	C9orf131_ENST00000421362.2_Missense_Mutation_p.L459F|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.L434F	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	507								p.L507F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAAGAGAACCTCTGGGCATC	0.542																																					p.L434F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1300T	9						.						135.0	131.0	132.0					9																	35044145		2203	4300	6503	35034145	SO:0001583	missense	138724	exon2			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1519C>T	9.37:g.35044145C>T	ENSP00000308279:p.Leu507Phe	Somatic		Capture	Illumina HiSeq	Phase_I	35034145	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821628	0.50633	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.26223	1.75;1.75;1.78	5.1	3.17	0.36434	.	0.319891	0.22986	N	0.053252	T	0.35740	0.0942	L	0.43923	1.385	0.26503	N	0.974732	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69654	0.965;0.965;0.965	T	0.04454	-1.0950	10	0.48119	T	0.1	-7.1308	6.9634	0.24610	0.0:0.7296:0.1759:0.0945	.	507;434;459	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	F	459;434;507	ENSP00000393683:L459F;ENSP00000346472:L434F;ENSP00000308279:L507F	ENSP00000308279:L507F	L	+	1	0	C9orf131	35034145	0.002000	0.14202	0.855000	0.33649	0.678000	0.39670	-0.078000	0.11375	1.324000	0.45282	0.561000	0.74099	CTC		0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
PIGO	84720	broad.mit.edu	37	9	35092699	35092699	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35092699C>T	ENST00000378617.3	-	7	1579	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Silent_p.Q395Q|PIGO_ENST00000298004.5_Silent_p.Q395Q|PIGO_ENST00000341666.3_Silent_p.Q395Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	395					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.Q395Q(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGTTCTGCAGCTGATGAAGCT	0.562																																					p.Q395Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1185A	9						.						55.0	62.0	59.0					9																	35092699		2179	4221	6400	35082699	SO:0001819	synonymous_variant	84720	exon7			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1185G>A	9.37:g.35092699C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35082699	NM_032634	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	CCDS6575.1																																																																																				0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
RUSC2	9853	broad.mit.edu	37	9	35547735	35547735	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35547735C>T	ENST00000455600.1	+	2	1786	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	406						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.S406F(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACCTATCTTCCCAATCATCC	0.567																																					p.S406F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217T	9						.						93.0	103.0	100.0					9																	35547735		2203	4300	6503	35537735	SO:0001583	missense	9853	exon2			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1217C>T	9.37:g.35547735C>T	ENSP00000393922:p.Ser406Phe	Somatic		Capture	Illumina HiSeq	Phase_I	35537735	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	c	18.20	3.570155	0.65765	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.41400	1.0;1.0	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	L	0.34521	1.04	0.49687	D	0.999819	D	0.76494	0.999	D	0.85130	0.997	T	0.59059	-0.7525	10	0.87932	D	0	-16.9176	18.3129	0.90207	0.0:1.0:0.0:0.0	.	406	Q8N2Y8	RUSC2_HUMAN	F	406	ENSP00000355177:S406F;ENSP00000393922:S406F	ENSP00000355177:S406F	S	+	2	0	RUSC2	35537735	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.350000	0.79385	2.566000	0.86566	0.651000	0.88453	TCC		0.567	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
TPM2	7169	broad.mit.edu	37	9	35684535	35684535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35684535C>A	ENST00000360958.2	-	7	756	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	TPM2_ENST00000378300.5_Nonsense_Mutation_p.E218*|TPM2_ENST00000378292.3_Nonsense_Mutation_p.E218*|TPM2_ENST00000329305.2_Nonsense_Mutation_p.E218*	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	218			Missing (probable disease-associated mutation in patients with undefined congenital myopathy). {ECO:0000269|PubMed:24692096}.		muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E218*(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATTTATCTTCTTTGGTGGAA	0.493																																					p.E218X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G652T	9						.						127.0	110.0	115.0					9																	35684535		2203	4300	6503	35674535	SO:0001587	stop_gained	7169	exon7				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.652G>T	9.37:g.35684535C>A	ENSP00000354219:p.Glu218*	Somatic		Capture	Illumina HiSeq	Phase_I	35674535	NM_213674	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Nonsense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878295	0.91740	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.0224	17.7282	0.88370	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000367541:E218X	E	-	1	0	TPM2	35674535	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.647000	0.83462	2.490000	0.84030	0.591000	0.81541	GAA		0.493	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
TPM2	7169	broad.mit.edu	37	9	35685749	35685749	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35685749C>T	ENST00000360958.2	-	3	373	c.269G>A	c.(268-270)cGc>cAc	p.R90H	TPM2_ENST00000378300.5_Missense_Mutation_p.R90H|TPM2_ENST00000378292.3_Missense_Mutation_p.R90H|TPM2_ENST00000329305.2_Missense_Mutation_p.R90H	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.R90H(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGAATGCGGCGGTTCAGGGA	0.617																																					p.R90H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G269A	9						.						44.0	46.0	45.0					9																	35685749		2203	4300	6503	35675749	SO:0001583	missense	7169	exon3				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.269G>A	9.37:g.35685749C>T	ENSP00000354219:p.Arg90His	Somatic		Capture	Illumina HiSeq	Phase_I	35675749	NM_213674	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159539	0.94686	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	5.24	5.24	0.73138	.	.	.	.	.	D	0.99588	0.9851	H	0.99169	4.455	0.58432	D	0.999998	D;D;P;D;D	0.89917	0.999;1.0;0.844;0.995;1.0	D;D;P;D;D	0.87578	0.98;0.997;0.599;0.965;0.998	D	0.97599	1.0122	9	0.87932	D	0	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	90;90;90;90;90	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	H	90	ENSP00000367550:R90H;ENSP00000367542:R90H;ENSP00000367541:R90H;ENSP00000354219:R90H	ENSP00000367541:R90H	R	-	2	0	TPM2	35675749	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.635000	0.83286	2.723000	0.93209	0.655000	0.94253	CGC		0.617	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
TPM2	7169	broad.mit.edu	37	9	35689809	35689809	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35689809G>A	ENST00000360958.2	-	1	110	c.6C>T	c.(4-6)gaC>gaT	p.D2D	TPM2_ENST00000378300.5_Silent_p.D2D|TPM2_ENST00000378292.3_Silent_p.D2D|TPM2_ENST00000329305.2_Silent_p.D2D	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	2			D -> V (probable disease-associated mutation found in patients with undefined congenital myopathy). {ECO:0000269|PubMed:24692096}.		muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.D2D(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTGATGGCGTCCATGGCTG	0.677																																					p.D2D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6T	9						.						144.0	144.0	144.0					9																	35689809		2203	4300	6503	35679809	SO:0001819	synonymous_variant	7169	exon1				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.6C>T	9.37:g.35689809G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35679809	NM_213674	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	ENST00000360958.2	37	CCDS6587.1																																																																																				0.677	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
NPR2	4882	broad.mit.edu	37	9	35793956	35793956	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35793956G>T	ENST00000342694.2	+	2	984	c.729G>T	c.(727-729)gaG>gaT	p.E243D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	243					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E243D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCCAGAGGGAGAATCTGACCA	0.567																																					p.E243D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G729T	9						.						103.0	101.0	102.0					9																	35793956		2203	4300	6503	35783956	SO:0001583	missense	4882	exon2			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.729G>T	9.37:g.35793956G>T	ENSP00000341083:p.Glu243Asp	Somatic		Capture	Illumina HiSeq	Phase_I	35783956	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871905	0.33069	.	.	ENSG00000159899	ENST00000342694	D	0.82803	-1.65	4.23	3.32	0.38043	Extracellular ligand-binding receptor (1);	0.000000	0.43579	D	0.000553	T	0.79969	0.4538	M	0.74258	2.255	0.48040	D	0.999578	B;B	0.21381	0.045;0.055	B;B	0.25759	0.049;0.063	T	0.73193	-0.4060	10	0.13470	T	0.59	.	11.8977	0.52665	0.0903:0.0:0.9097:0.0	.	243;243	P20594-2;P20594	.;ANPRB_HUMAN	D	243	ENSP00000341083:E243D	ENSP00000341083:E243D	E	+	3	2	NPR2	35783956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.963000	0.40452	2.335000	0.79485	0.655000	0.94253	GAG		0.567	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
NPR2	4882	broad.mit.edu	37	9	35801725	35801725	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35801725C>A	ENST00000342694.2	+	8	1777	c.1522C>A	c.(1522-1524)Cac>Aac	p.H508N		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	508					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.H508N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGAGCGTTATCACAAAGGTGC	0.547																																					p.H508N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1522A	9						.						184.0	142.0	156.0					9																	35801725		2203	4300	6503	35791725	SO:0001583	missense	4882	exon8			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1522C>A	9.37:g.35801725C>A	ENSP00000341083:p.His508Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35791725	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383204	0.42207	.	.	ENSG00000159899	ENST00000342694	T	0.42513	0.97	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.000000	0.44285	D	0.000468	T	0.47544	0.1451	M	0.72894	2.215	0.50313	D	0.999868	P;B	0.37573	0.6;0.012	B;B	0.41271	0.352;0.008	T	0.38112	-0.9676	10	0.15066	T	0.55	.	17.9185	0.88959	0.0:1.0:0.0:0.0	.	508;508	P20594-2;P20594	.;ANPRB_HUMAN	N	508	ENSP00000341083:H508N	ENSP00000341083:H508N	H	+	1	0	NPR2	35791725	0.996000	0.38824	0.892000	0.35008	0.993000	0.82548	3.918000	0.56432	2.657000	0.90304	0.655000	0.94253	CAC		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
NPR2	4882	broad.mit.edu	37	9	35810915	35810915	+	IGR	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35810915T>C	ENST00000342694.2	+	0	3686				SPAG8_ENST00000340291.2_Missense_Mutation_p.Y335C|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Missense_Mutation_p.Y335C|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.Y333C|HINT2_ENST00000474908.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y335C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGGTGGCTGGTACGAGTCTTT	0.527																																					p.Y335C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1004G	9						.						105.0	113.0	110.0					9																	35810915		2203	4300	6503	35800915	SO:0001628	intergenic_variant	26206	exon3			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810915T>C		Somatic		Capture	Illumina HiSeq	Phase_I	35800915	NM_001039592	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.41|12.41	1.931099|1.931099	0.34096|0.34096	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.59224	.|0.34;0.28;0.33	5.99|5.99	3.48|3.48	0.39840|0.39840	.|.	.|0.095003	.|0.41194	.|D	.|0.000939	T|T	0.68165|0.68165	0.2971|0.2971	L|L	0.59436|0.59436	1.845|1.845	0.36938|0.36938	D|D	0.892248|0.892248	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.983;0.991	T|T	0.73222|0.73222	-0.4051|-0.4051	5|10	.|0.87932	.|D	.|0	-13.8162|-13.8162	8.1789|8.1789	0.31298|0.31298	0.3217:0.0:0.0:0.6783|0.3217:0.0:0.0:0.6783	.|.	.|335;335	.|E9PDV6;Q99932-2	.|.;.	A|C	333|335;333;335	.|ENSP00000340982:Y335C;ENSP00000418072:Y333C;ENSP00000379878:Y335C	.|ENSP00000340982:Y335C	T|Y	-|-	1|2	0|0	SPAG8|SPAG8	35800915|35800915	0.996000|0.996000	0.38824|0.38824	0.992000|0.992000	0.48379|0.48379	0.185000|0.185000	0.23345|0.23345	0.881000|0.881000	0.28173|0.28173	1.045000|1.045000	0.40225|0.40225	0.533000|0.533000	0.62120|0.62120	ACC|TAC		0.527	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
OR2S2	56656	broad.mit.edu	37	9	35957817	35957817	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:35957817G>T	ENST00000341959.2	-	1	334	c.279C>A	c.(277-279)atC>atA	p.I93I		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I83I(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			CTGAGAAGGAGATGGTTTCCT	0.532																																					p.I93I	Pancreas(172;293 2036 17878 24427 30946)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279A	9						.						76.0	63.0	67.0					9																	35957817		2203	4300	6503	35947817	SO:0001819	synonymous_variant	56656	exon1			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.279C>A	9.37:g.35957817G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35947817	NM_019897	Q2M3L0|Q6IF19|Q96R42	Silent	SNP	ENST00000341959.2	37	CCDS6596.2																																																																																				0.532	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897	
RECK	8434	broad.mit.edu	37	9	36118832	36118832	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:36118832C>T	ENST00000377966.3	+	18	2898	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	778	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R778C(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTACTCGGATCGCGTGGCAGT	0.567																																					p.R778C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2332T	9						.						96.0	80.0	85.0					9																	36118832		2203	4300	6503	36108832	SO:0001583	missense	8434	exon18			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2332C>T	9.37:g.36118832C>T	ENSP00000367202:p.Arg778Cys	Somatic		Capture	Illumina HiSeq	Phase_I	36108832	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311403	0.81358	.	.	ENSG00000122707	ENST00000377966	T	0.04502	3.61	5.78	5.78	0.91487	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00007	-1.2500	10	0.48119	T	0.1	-19.2293	17.8559	0.88762	0.0:1.0:0.0:0.0	.	778;778	A8K9D8;O95980	.;RECK_HUMAN	C	778	ENSP00000367202:R778C	ENSP00000367202:R778C	R	+	1	0	RECK	36108832	1.000000	0.71417	0.344000	0.25628	0.500000	0.33767	7.386000	0.79775	2.894000	0.99253	0.655000	0.94253	CGC		0.567	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
RECK	8434	broad.mit.edu	37	9	36121661	36121661	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:36121661C>T	ENST00000377966.3	+	20	3236	c.2670C>T	c.(2668-2670)gtC>gtT	p.V890V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	890					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V890V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCATTCCCGTCGATCACTATC	0.453																																					p.V890V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2670T	9						.						205.0	175.0	185.0					9																	36121661		2203	4300	6503	36111661	SO:0001819	synonymous_variant	8434	exon20			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2670C>T	9.37:g.36121661C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36111661	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	CCDS6597.1																																																																																				0.453	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
RNF38	152006	broad.mit.edu	37	9	36357936	36357936	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:36357936G>T	ENST00000259605.6	-	5	681	c.574C>A	c.(574-576)Cat>Aat	p.H192N	RNF38_ENST00000350199.4_Missense_Mutation_p.H109N|RNF38_ENST00000377877.4_Missense_Mutation_p.H116N|RNF38_ENST00000357058.3_Missense_Mutation_p.H109N|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_Missense_Mutation_p.H109N|RNF38_ENST00000353739.4_Missense_Mutation_p.H142N	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	192					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H192N(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GTTCCTTGATGGAGCTTTAAA	0.403																																					p.H142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424A	9						.						122.0	108.0	112.0					9																	36357936		2203	4300	6503	36347936	SO:0001583	missense	152006	exon4				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.574C>A	9.37:g.36357936G>T	ENSP00000259605:p.His192Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36347936	NM_194329	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747829	0.69533	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.98	5.98	0.97165	.	0.152996	0.64402	D	0.000019	T	0.36358	0.0964	L	0.54323	1.7	0.80722	D	1	P;P;P	0.44627	0.698;0.799;0.839	B;B;B	0.42522	0.142;0.39;0.276	T	0.09292	-1.0681	10	0.56958	D	0.05	-10.5681	17.9372	0.89015	0.0:0.0:1.0:0.0	.	116;142;192	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	N	192;142;109;109;109;9;116;116	ENSP00000259605:H192N;ENSP00000335239:H142N;ENSP00000367117:H109N;ENSP00000349566:H109N;ENSP00000343947:H109N;ENSP00000367109:H116N	ENSP00000259605:H192N	H	-	1	0	RNF38	36347936	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.320000	0.96346	2.838000	0.97847	0.655000	0.94253	CAT		0.403	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781	
ZCCHC7	84186	broad.mit.edu	37	9	37126459	37126459	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:37126459G>T	ENST00000336755.5	+	2	236	c.130G>T	c.(130-132)Gat>Tat	p.D44Y	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.D43Y|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	44						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D44Y(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTATGCCCAAGATCTTGATGA	0.398																																					p.D44Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130T	9						.						152.0	146.0	148.0					9																	37126459		2203	4300	6503	37116459	SO:0001583	missense	84186	exon2			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.130G>T	9.37:g.37126459G>T	ENSP00000337839:p.Asp44Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37116459	NM_032226	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086184	0.55861	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.51071	1.28;0.72	5.64	3.76	0.43208	.	0.326057	0.36134	N	0.002768	T	0.53850	0.1822	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.65874	0.939;0.817	T	0.55805	-0.8083	10	0.72032	D	0.01	-12.0224	8.6041	0.33762	0.2381:0.0:0.7619:0.0	.	44;44	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	Y	44;43	ENSP00000337839:D44Y;ENSP00000316365:D43Y	ENSP00000316365:D43Y	D	+	1	0	ZCCHC7	37116459	0.998000	0.40836	0.989000	0.46669	0.978000	0.69477	1.596000	0.36718	1.485000	0.48380	0.637000	0.83480	GAT		0.398	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226	
FBXO10	26267	broad.mit.edu	37	9	37516074	37516074	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:37516074C>A	ENST00000432825.2	-	10	2571	c.2523G>T	c.(2521-2523)aaG>aaT	p.K841N	FBXO10_ENST00000541829.1_Missense_Mutation_p.K366N|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	841					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.K847N(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATCCGGTTCTTTATTACCT	0.542																																					p.K841N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2523T	9						.						62.0	55.0	57.0					9																	37516074		1898	4100	5998	37506074	SO:0001583	missense	26267	exon10			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2523G>T	9.37:g.37516074C>A	ENSP00000403802:p.Lys841Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37506074	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054150	0.55218	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.73897	-0.79;-0.79	5.43	4.52	0.55395	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.055023	0.64402	D	0.000003	T	0.68860	0.3047	N	0.19112	0.55	0.42656	D	0.993461	D;P;P	0.53312	0.959;0.901;0.901	P;P;P	0.55749	0.783;0.71;0.71	T	0.66933	-0.5798	10	0.33940	T	0.23	-31.462	9.8872	0.41268	0.0:0.8399:0.0:0.1601	.	720;366;841	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	N	841;366	ENSP00000403802:K841N;ENSP00000441307:K366N	ENSP00000403802:K841N	K	-	3	2	FBXO10	37506074	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.983000	0.40648	2.552000	0.86080	0.511000	0.50034	AAG		0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
FRMPD1	22844	broad.mit.edu	37	9	37746408	37746408	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:37746408G>T	ENST00000539465.1	+	16	4972	c.4379G>T	c.(4378-4380)aGc>aTc	p.S1460I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1460I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1460						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S1460I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAAAGCCGGAGCCGCCTCTGC	0.577																																					p.S1460I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4379T	9						.						20.0	23.0	22.0					9																	37746408		2202	4299	6501	37736408	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4379G>T	9.37:g.37746408G>T	ENSP00000444411:p.Ser1460Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37736408	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841497	0.71488	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.67	2.82	0.32997	.	0.387803	0.31542	N	0.007466	T	0.15046	0.0363	L	0.44542	1.39	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	T	0.01143	-1.1438	10	0.66056	D	0.02	-12.4045	9.3836	0.38329	0.2265:0.0:0.7735:0.0	.	1460	Q5SYB0	FRPD1_HUMAN	I	1460	ENSP00000366995:S1460I;ENSP00000444411:S1460I	ENSP00000366995:S1460I	S	+	2	0	FRMPD1	37736408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.745000	0.38278	1.397000	0.46682	0.655000	0.94253	AGC		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37746645	37746645	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:37746645A>C	ENST00000539465.1	+	16	5209	c.4616A>C	c.(4615-4617)aAa>aCa	p.K1539T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.K1539T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1539						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.K1539T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGCTGCTAAATCGACCTGC	0.597																																					p.K1539T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4616C	9						.						109.0	111.0	110.0					9																	37746645		2203	4300	6503	37736645	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4616A>C	9.37:g.37746645A>C	ENSP00000444411:p.Lys1539Thr	Somatic		Capture	Illumina HiSeq	Phase_I	37736645	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593152	0.66219	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.09073	3.02;3.02	5.71	2.07	0.26955	.	0.308893	0.36101	N	0.002794	T	0.08133	0.0203	L	0.44542	1.39	0.80722	D	1	P	0.46706	0.883	B	0.41860	0.368	T	0.14896	-1.0456	10	0.72032	D	0.01	-13.3774	7.8337	0.29358	0.737:0.0:0.263:0.0	.	1539	Q5SYB0	FRPD1_HUMAN	T	1539	ENSP00000366995:K1539T;ENSP00000444411:K1539T	ENSP00000366995:K1539T	K	+	2	0	FRMPD1	37736645	1.000000	0.71417	0.853000	0.33588	0.804000	0.45430	1.838000	0.39211	0.109000	0.17891	0.533000	0.62120	AAA		0.597	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
TRMT10B	158234	broad.mit.edu	37	9	37763707	37763707	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:37763707G>T	ENST00000297994.3	+	4	442	c.377G>T	c.(376-378)aGa>aTa	p.R126I	TRMT10B_ENST00000377753.2_Intron|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R31I|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R126I	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	126	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)	p.R126I(1)									TCAGGACCAAGACTATGTATC	0.468																																					p.R126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377T	9						.						120.0	110.0	113.0					9																	37763707		1910	4134	6044	37753707	SO:0001583	missense	158234	exon4			BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.377G>T	9.37:g.37763707G>T	ENSP00000297994:p.Arg126Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37753707	NM_144964	B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714138	0.89112	.	.	ENSG00000165275	ENST00000537911;ENST00000377754;ENST00000297994	T;T;T	0.36157	1.27;1.85;1.8	5.09	5.09	0.68999	.	0.150547	0.53938	D	0.000042	T	0.46249	0.1383	L	0.32530	0.975	0.53688	D	0.999978	D;P;P	0.58970	0.984;0.843;0.757	P;P;B	0.60541	0.876;0.487;0.293	T	0.33059	-0.9883	10	0.44086	T	0.13	-20.695	16.3612	0.83269	0.0:0.0:1.0:0.0	.	126;31;126	B7Z3D3;Q6PF06-2;Q6PF06	.;.;RG9D3_HUMAN	I	126;31;126	ENSP00000444997:R126I;ENSP00000366983:R31I;ENSP00000297994:R126I	ENSP00000297994:R126I	R	+	2	0	RG9MTD3	37753707	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.918000	0.40006	2.533000	0.85409	0.544000	0.68410	AGA		0.468	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964	
ALDH1B1	219	broad.mit.edu	37	9	38395884	38395884	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:38395884G>A	ENST00000377698.3	+	2	292	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	47					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.D47N(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TGAATGGCAAGATGCAGTCAG	0.607																																					p.D47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	9						.						104.0	92.0	96.0					9																	38395884		2203	4300	6503	38385884	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.139G>A	9.37:g.38395884G>A	ENSP00000366927:p.Asp47Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38385884	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728643	0.30593	.	.	ENSG00000137124	ENST00000377698	T	0.76578	-1.03	5.81	5.81	0.92471	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000003	T	0.74891	0.3776	L	0.56340	1.77	0.52099	D	0.999949	B	0.14438	0.01	B	0.20955	0.032	T	0.67948	-0.5538	10	0.25751	T	0.34	.	17.5771	0.87953	0.0:0.0:1.0:0.0	.	47	P30837	AL1B1_HUMAN	N	47	ENSP00000366927:D47N	ENSP00000366927:D47N	D	+	1	0	ALDH1B1	38385884	1.000000	0.71417	0.423000	0.26634	0.441000	0.31987	5.153000	0.64888	2.756000	0.94617	0.655000	0.94253	GAT		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
ALDH1B1	219	broad.mit.edu	37	9	38396461	38396461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:38396461C>T	ENST00000377698.3	+	2	869	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	239					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.T239M(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AACATCATCACGGGGTATGGC	0.597																																					p.T239M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	9						.						68.0	65.0	66.0					9																	38396461		2203	4300	6503	38386461	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.716C>T	9.37:g.38396461C>T	ENSP00000366927:p.Thr239Met	Somatic		Capture	Illumina HiSeq	Phase_I	38386461	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457007	0.63401	.	.	ENSG00000137124	ENST00000377698	T	0.78126	-1.15	5.51	5.51	0.81932	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.087821	0.47093	D	0.000259	D	0.86912	0.6047	M	0.79475	2.455	0.52501	D	0.999958	D	0.61697	0.99	P	0.60789	0.879	D	0.88416	0.3025	10	0.87932	D	0	.	16.901	0.86113	0.0:1.0:0.0:0.0	.	239	P30837	AL1B1_HUMAN	M	239	ENSP00000366927:T239M	ENSP00000366927:T239M	T	+	2	0	ALDH1B1	38386461	1.000000	0.71417	0.663000	0.29738	0.492000	0.33523	5.819000	0.69243	2.592000	0.87571	0.655000	0.94253	ACG		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
ALDH1B1	219	broad.mit.edu	37	9	38396875	38396875	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:38396875G>A	ENST00000377698.3	+	2	1283	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	377					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.G377D(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ATCCAGCTTGGCCAGAAGGAG	0.572																																					p.G377D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1130A	9						.						82.0	73.0	76.0					9																	38396875		2203	4300	6503	38386875	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1130G>A	9.37:g.38396875G>A	ENSP00000366927:p.Gly377Asp	Somatic		Capture	Illumina HiSeq	Phase_I	38386875	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309513	0.60414	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.77750	-1.12	5.81	3.98	0.46160	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.083210	0.49916	D	0.000132	D	0.90170	0.6928	H	0.94886	3.595	0.50313	D	0.999861	D	0.89917	1.0	D	0.91635	0.999	D	0.90866	0.4742	10	0.87932	D	0	.	10.7612	0.46266	0.1547:0.0:0.8453:0.0	.	377	P30837	AL1B1_HUMAN	D	377;78	ENSP00000366927:G377D	ENSP00000366927:G377D	G	+	2	0	ALDH1B1	38386875	1.000000	0.71417	0.630000	0.29268	0.808000	0.45660	6.308000	0.72820	0.813000	0.34350	0.655000	0.94253	GGC		0.572	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
CNTNAP3	79937	broad.mit.edu	37	9	39109178	39109178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:39109178G>A	ENST00000297668.6	-	15	2417	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P694S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P781S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	782	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P782S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCAGTGGCCCCAGTGTA	0.443																																					p.P782S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2344T	9						.						54.0	49.0	51.0					9																	39109178		2203	4300	6503	39099178	SO:0001583	missense	79937	exon15			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2344C>T	9.37:g.39109178G>A	ENSP00000297668:p.Pro782Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39099178	NM_033655	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885395	0.51908	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.52754	0.65;0.65;0.65	2.99	2.99	0.34606	.	.	.	.	.	T	0.64864	0.2637	M	0.74467	2.265	0.80722	D	1	D;P;P	0.64830	0.994;0.947;0.947	D;P;P	0.66602	0.945;0.829;0.677	T	0.69734	-0.5065	9	0.59425	D	0.04	.	13.043	0.58910	0.0:0.0:1.0:0.0	.	782;781;782	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	782;781;694	ENSP00000297668:P782S;ENSP00000366884:P781S;ENSP00000350863:P694S	ENSP00000297668:P782S	P	-	1	0	CNTNAP3	39099178	1.000000	0.71417	0.999000	0.59377	0.140000	0.21249	6.681000	0.74523	1.671000	0.50874	0.306000	0.20318	CCA		0.443	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
CNTNAP3	79937	broad.mit.edu	37	9	39140580	39140580	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:39140580A>C	ENST00000297668.6	-	12	1885	c.1812T>G	c.(1810-1812)ctT>ctG	p.L604L	CNTNAP3_ENST00000358144.2_Silent_p.L516L|CNTNAP3_ENST00000323947.7_Silent_p.L511L|CNTNAP3_ENST00000377656.2_Silent_p.L604L|CNTNAP3_ENST00000377659.1_Silent_p.L604L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	604	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L604L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAATATAGTAAAGCCCAGACG	0.448																																					p.L604L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1812G	9						.						49.0	55.0	53.0					9																	39140580		2203	4300	6503	39130580	SO:0001819	synonymous_variant	79937	exon12			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1812T>G	9.37:g.39140580A>C		Somatic		Capture	Illumina HiSeq	Phase_I	39130580	NM_033655	B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																				0.448	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
SPATA31A3	727830	broad.mit.edu	37	9	40704210	40704210	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:40704210C>T	ENST00000356699.5	+	4	1896	c.1867C>T	c.(1867-1869)Ctg>Ttg	p.L623L	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	623					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L623L(2)									GTCTCTGGATCTGATGCAGCT	0.542																																					p.L623L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1867T	9						.						13.0	11.0	11.0					9																	40704210		1390	2677	4067	40694210	SO:0001819	synonymous_variant	727830	exon4					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1867C>T	9.37:g.40704210C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40694210	NM_001083124		Silent	SNP	ENST00000356699.5	37	CCDS47969.1																																																																																				0.542	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124	
ZNF658	26149	broad.mit.edu	37	9	40774705	40774705	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:40774705T>C	ENST00000602553.1	-	5	864	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ZNF658_ENST00000377626.3_Silent_p.E190E|ZNF658_ENST00000441795.1_Silent_p.E188E			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	190					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)	p.E190E(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTCACCATGTTCATAAGATT	0.343																																					p.E190E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A570G	9						.						22.0	22.0	22.0					9																	40774705		2190	4280	6470	40764705	SO:0001819	synonymous_variant	26149	exon5			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.570A>G	9.37:g.40774705T>C		Somatic		Capture	Illumina HiSeq	Phase_I	40764705	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	CCDS35023.1																																																																																				0.343	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
ANKRD20A1	84210	broad.mit.edu	37	9	67968467	67968467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:67968467G>A	ENST00000377477.2	+	15	2138	c.2026G>A	c.(2026-2028)Gat>Aat	p.D676N	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	676						plasma membrane (GO:0005886)		p.D676N(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TGCCTTAAAAGATAAGTTCCG	0.343																																					p.D676N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2026A	9						.						11.0	12.0	11.0					9																	67968467		1423	3070	4493	67558287	SO:0001583	missense	441425	exon15			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.2026G>A	9.37:g.67968467G>A	ENSP00000366697:p.Asp676Asn	Somatic		Capture	Illumina HiSeq	Phase_I	67558287	NM_001012419	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.611868	0.00835	.	.	ENSG00000196774	ENST00000377477	T	0.15603	2.41	1.88	0.633	0.17712	.	.	.	.	.	T	0.07863	0.0197	N	0.25144	0.715	0.19300	N	0.999977	B	0.14438	0.01	B	0.04013	0.001	T	0.41662	-0.9496	9	0.02654	T	1	.	4.9243	0.13885	0.8179:0.0:0.1821:0.0	.	676	Q5TYW2	A20A1_HUMAN	N	676	ENSP00000366697:D676N	ENSP00000366697:D676N	D	+	1	0	ANKRD20A1	67558287	1.000000	0.71417	0.040000	0.18447	0.021000	0.10359	3.452000	0.52971	0.038000	0.15604	0.109000	0.15622	GAT		0.343	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
ANKRD20A4	728747	broad.mit.edu	37	9	69423587	69423587	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:69423587G>T	ENST00000357336.3	+	15	2164	c.1883G>T	c.(1882-1884)aGa>aTa	p.R628I		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	628								p.R628I(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAAACAGAAAGAAACCTAAAA	0.353																																					p.R628I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1883T	9						.						20.0	28.0	26.0					9																	69423587		2125	4249	6374	68713407	SO:0001583	missense	728747	exon15				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1883G>T	9.37:g.69423587G>T	ENSP00000349891:p.Arg628Ile	Somatic		Capture	Illumina HiSeq	Phase_I	68713407	NM_001098805		Missense_Mutation	SNP	ENST00000357336.3	37	CCDS43828.1	.	.	.	.	.	.	.	.	.	.	G	7.732	0.699400	0.15106	.	.	ENSG00000172014	ENST00000357336	T	0.18657	2.2	2.26	1.15	0.20763	.	.	.	.	.	T	0.20251	0.0487	M	0.71581	2.175	0.30748	N	0.745448	B	0.27853	0.191	B	0.16289	0.015	T	0.23440	-1.0188	9	0.87932	D	0	.	5.9988	0.19509	0.0:0.0:0.5259:0.4741	.	628	Q4UJ75	A20A4_HUMAN	I	628	ENSP00000349891:R628I	ENSP00000349891:R628I	R	+	2	0	ANKRD20A4	68713407	0.980000	0.34600	0.991000	0.47740	0.129000	0.20672	0.115000	0.15540	1.256000	0.44068	0.184000	0.17185	AGA		0.353	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805	
FAM189A2	9413	broad.mit.edu	37	9	71992394	71992394	+	Splice_Site	SNP	G	G	A	rs568550030		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:71992394G>A	ENST00000257515.8	+	5	780		c.e5+1		FAM189A2_ENST00000455972.1_Splice_Site|FAM189A2_ENST00000303068.7_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral component of membrane (GO:0016021)		p.?(2)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCCTGCATCGTAAGTCTATG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.0		0.0	False		,,,				2504	0.001				.												.	.	2	Unknown(2)	large_intestine(1)|endometrium(1)	.	9						.						107.0	92.0	97.0					9																	71992394		2203	4300	6503	71182214	SO:0001630	splice_region_variant	9413	.			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.360+1G>A	9.37:g.71992394G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71182214	.	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Splice_Site	SNP	ENST00000257515.8	37	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089029	0.55968	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM189A2	71182214	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	8.348000	0.90064	2.618000	0.88619	0.561000	0.74099	.		0.582	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816	Intron
APBA1	320	broad.mit.edu	37	9	72071175	72071175	+	Silent	SNP	G	G	A	rs112803189		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:72071175G>A	ENST00000265381.4	-	8	1998	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	APBA1_ENST00000470082.1_5'Flank	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	592	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F592F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCTCAGACTCGAAGACGTGGC	0.522																																					p.F592F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776T	9						.						237.0	223.0	227.0					9																	72071175		2203	4300	6503	71260995	SO:0001819	synonymous_variant	320	exon8			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1776C>T	9.37:g.72071175G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71260995	NM_001163	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																				0.522	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
PTAR1	375743	broad.mit.edu	37	9	72349142	72349142	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:72349142T>G	ENST00000340434.4	-	4	355	c.352A>C	c.(352-354)Aat>Cat	p.N118H	PTAR1_ENST00000377200.5_Missense_Mutation_p.N39H	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	118					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.N118H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TTAATTGGATTTAAAGTGCCA	0.318																																					p.N118H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352C	9						.						93.0	84.0	87.0					9																	72349142		1810	4063	5873	71538962	SO:0001583	missense	375743	exon4			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.352A>C	9.37:g.72349142T>G	ENSP00000344299:p.Asn118His	Somatic		Capture	Illumina HiSeq	Phase_I	71538962	NM_001099666	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762530	0.49574	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.46819	0.86;0.86	5.96	5.96	0.96718	Protein prenyltransferase (1);	0.363487	0.32884	N	0.005535	T	0.46600	0.1401	L	0.36672	1.1	0.80722	D	1	P	0.39131	0.661	B	0.43728	0.429	T	0.36089	-0.9762	10	0.36615	T	0.2	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	118	Q7Z6K3	PTAR1_HUMAN	H	39;118	ENSP00000366405:N39H;ENSP00000344299:N118H	ENSP00000344299:N118H	N	-	1	0	PTAR1	71538962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.701000	0.61810	2.284000	0.76573	0.528000	0.53228	AAT		0.318	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666	
C9orf135	138255	broad.mit.edu	37	9	72501769	72501769	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:72501769G>A	ENST00000377197.3	+	5	552	c.465G>A	c.(463-465)acG>acA	p.T155T	C9orf135_ENST00000527647.1_Intron|RN7SL570P_ENST00000484405.2_RNA|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	155						integral component of membrane (GO:0016021)		p.T155T(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CATTGACAACGTACTCAGAAG	0.333																																					p.T155T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	9						.						130.0	110.0	117.0					9																	72501769		2203	4299	6502	71691589	SO:0001819	synonymous_variant	138255	exon5				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.465G>A	9.37:g.72501769G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71691589	NM_001010940	A7E2U4|B2RN61	Silent	SNP	ENST00000377197.3	37	CCDS35041.1																																																																																				0.333	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940	
SMC5	23137	broad.mit.edu	37	9	72879294	72879294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:72879294C>T	ENST00000361138.5	+	2	318	c.260C>T	c.(259-261)tCg>tTg	p.S87L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	87					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.S87L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACAGGGAAGTCGAGCATTGTG	0.373																																					p.S87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C260T	9						.						144.0	141.0	142.0					9																	72879294		2203	4300	6503	72069114	SO:0001583	missense	23137	exon2			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.260C>T	9.37:g.72879294C>T	ENSP00000354957:p.Ser87Leu	Somatic		Capture	Illumina HiSeq	Phase_I	72069114	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357926	0.95854	.	.	ENSG00000198887	ENST00000361138	D	0.91124	-2.79	5.65	5.65	0.86999	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96223	0.9162	10	0.87932	D	0	-9.2364	19.6731	0.95918	0.0:1.0:0.0:0.0	.	87	Q8IY18	SMC5_HUMAN	L	87	ENSP00000354957:S87L	ENSP00000354957:S87L	S	+	2	0	SMC5	72069114	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.297000	0.78799	2.817000	0.96982	0.563000	0.77884	TCG		0.373	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
SMC5	23137	broad.mit.edu	37	9	72965072	72965072	+	Nonsense_Mutation	SNP	C	C	T	rs371533849		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:72965072C>T	ENST00000361138.5	+	23	2990	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	978					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.R978*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGTCAAATTTCGAAGTAGTAC	0.323																																					p.R978X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2932T	9						.	C	stop/ARG	0,4406		0,0,2203	71.0	69.0	70.0		2932	6.1	1.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SMC5	NM_015110.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		978/1102	72965072	1,13005	2203	4300	6503	72154892	SO:0001587	stop_gained	23137	exon23			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2932C>T	9.37:g.72965072C>T	ENSP00000354957:p.Arg978*	Somatic		Capture	Illumina HiSeq	Phase_I	72154892	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Nonsense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	42	9.186750	0.99094	0.0	1.16E-4	ENSG00000198887	ENST00000361138	.	.	.	6.07	6.07	0.98685	.	0.099196	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6968	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	978	.	ENSP00000354957:R978X	R	+	1	2	SMC5	72154892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.442000	0.80503	2.890000	0.99128	0.585000	0.79938	CGA		0.323	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
TRPM3	80036	broad.mit.edu	37	9	73152213	73152213	+	Silent	SNP	G	G	A	rs556615092		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:73152213G>A	ENST00000377111.2	-	25	4023	c.3780C>T	c.(3778-3780)atC>atT	p.I1260I	TRPM3_ENST00000357533.2_Silent_p.I1264I|TRPM3_ENST00000396285.1_Silent_p.I1119I|TRPM3_ENST00000360823.2_Silent_p.I1122I|TRPM3_ENST00000423814.3_Silent_p.I1287I|TRPM3_ENST00000396292.4_Silent_p.I1132I|TRPM3_ENST00000396280.5_Silent_p.I1109I|TRPM3_ENST00000377105.1_Silent_p.I1119I|TRPM3_ENST00000358082.3_Silent_p.I1122I|TRPM3_ENST00000377106.1_Silent_p.I1132I|TRPM3_ENST00000377110.3_Silent_p.I1260I|TRPM3_ENST00000408909.2_Silent_p.I1119I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1285					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I1264I(1)|p.I1132I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCATGCGCCCGATAAGGTCTT	0.627													g|||	1	0.000199681	0.0	0.0014	5008	,	,		16065	0.0		0.0	False		,,,				2504	0.0				p.I1260I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3780T	9						.						42.0	39.0	40.0					9																	73152213		2203	4300	6503	72342033	SO:0001819	synonymous_variant	80036	exon25			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3780C>T	9.37:g.73152213G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72342033	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	g	9.300	1.052729	0.19907	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	-10.4	0.00318	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43180	-0.9407	4	.	.	.	-12.9149	3.2438	0.06789	0.5249:0.133:0.1124:0.2297	.	.	.	.	W	1109	.	.	R	-	1	2	TRPM3	72342033	0.328000	0.24687	0.558000	0.28319	0.869000	0.49853	-0.416000	0.07097	-1.546000	0.01717	-0.733000	0.03571	CGG		0.627	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TRPM3	80036	broad.mit.edu	37	9	73235128	73235128	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:73235128G>T	ENST00000377111.2	-	15	2200	c.1957C>A	c.(1957-1959)Ctg>Atg	p.L653M	TRPM3_ENST00000357533.2_Missense_Mutation_p.L657M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L500M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L515M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L680M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L525M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L502M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L512M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L515M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L525M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L653M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L512M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	678					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.L525M(1)|p.L657M(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGAAGAACAGGGCCATCTTC	0.567																																					p.L653M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1957A	9						.						130.0	109.0	116.0					9																	73235128		2203	4300	6503	72424948	SO:0001583	missense	80036	exon15			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1957C>A	9.37:g.73235128G>T	ENSP00000366315:p.Leu653Met	Somatic		Capture	Illumina HiSeq	Phase_I	72424948	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.67|10.67	1.414338|1.414338	0.25465|0.25465	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19|.	6.07|6.07	4.08|4.08	0.47627|0.47627	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.47377|0.47377	0.1442|0.1442	L|L	0.39245|0.39245	1.2|1.2	0.38427|0.38427	D|D	0.946337|0.946337	P;P;D;B;P;D;P;P|.	0.89917|.	0.562;0.725;0.999;0.215;0.739;1.0;0.858;0.779|.	B;B;D;B;P;D;P;B|.	0.78314|.	0.444;0.343;0.991;0.418;0.574;0.988;0.661;0.366|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.25106|.	T|.	0.35|.	-15.1657|-15.1657	7.7372|7.7372	0.28821|0.28821	0.3718:0.0:0.6282:0.0|0.3718:0.0:0.6282:0.0	.|.	653;653;643;657;515;512;625;500|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|H	653;653;525;515;512;657;512;500;525;515;680|501	ENSP00000366315:L653M;ENSP00000366314:L653M;ENSP00000366310:L525M;ENSP00000354066:L515M;ENSP00000366309:L512M;ENSP00000350140:L657M;ENSP00000386127:L512M;ENSP00000379581:L500M;ENSP00000379587:L525M;ENSP00000350791:L515M;ENSP00000389542:L680M|.	ENSP00000350140:L657M|.	L|P	-|-	1|2	2|0	TRPM3|TRPM3	72424948|72424948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	3.851000|3.851000	0.55926|0.55926	0.788000|0.788000	0.33755|0.33755	0.650000|0.650000	0.86243|0.86243	CTG|CCT		0.567	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TMEM2	23670	broad.mit.edu	37	9	74319653	74319653	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:74319653T>C	ENST00000377044.4	-	18	3591	c.3052A>G	c.(3052-3054)Aac>Gac	p.N1018D	TMEM2_ENST00000396272.3_Missense_Mutation_p.N11D|TMEM2_ENST00000377066.5_Missense_Mutation_p.N955D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1018					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N1018D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCATAGGGTTGGACGGATAC	0.458																																					p.N1018D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3052G	9						.						133.0	109.0	117.0					9																	74319653		2203	4300	6503	73509473	SO:0001583	missense	23670	exon18				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3052A>G	9.37:g.74319653T>C	ENSP00000366243:p.Asn1018Asp	Somatic		Capture	Illumina HiSeq	Phase_I	73509473	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	t	13.07	2.128218	0.37533	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	T;T;T;T;T	0.72835	-0.69;-0.63;2.52;1.48;0.96	5.72	2.39	0.29439	.	0.682520	0.15794	N	0.244292	T	0.61060	0.2317	L	0.50333	1.59	0.22968	N	0.998494	B;B	0.21905	0.01;0.062	B;B	0.22152	0.009;0.038	T	0.55866	-0.8073	10	0.62326	D	0.03	.	5.9489	0.19234	0.1232:0.0:0.2315:0.6453	.	1018;955	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	D	1018;955;11;47;119	ENSP00000366243:N1018D;ENSP00000366266:N955D;ENSP00000379569:N11D;ENSP00000366254:N47D;ENSP00000366242:N119D	ENSP00000366242:N119D	N	-	1	0	TMEM2	73509473	0.044000	0.20184	0.978000	0.43139	0.583000	0.36354	0.588000	0.23924	0.646000	0.30693	-0.224000	0.12420	AAC		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMEM2	23670	broad.mit.edu	37	9	74345163	74345163	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:74345163C>A	ENST00000377044.4	-	9	2319	c.1780G>T	c.(1780-1782)Gac>Tac	p.D594Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.D531Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	594					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D594Y(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAATGGTGTCTTTTATCTGC	0.378																																					p.D594Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1780T	9						.						68.0	65.0	66.0					9																	74345163		2203	4300	6503	73534983	SO:0001583	missense	23670	exon9				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1780G>T	9.37:g.74345163C>A	ENSP00000366243:p.Asp594Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73534983	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952209	0.73787	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.81908	-1.55;-1.55	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.044220	0.85682	D	0.000000	D	0.91994	0.7464	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.971;0.994	D	0.91857	0.5496	10	0.52906	T	0.07	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	594;531	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	594;531	ENSP00000366243:D594Y;ENSP00000366266:D531Y	ENSP00000366243:D594Y	D	-	1	0	TMEM2	73534983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.972000	0.49256	2.649000	0.89929	0.585000	0.79938	GAC		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMEM2	23670	broad.mit.edu	37	9	74360330	74360330	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:74360330C>A	ENST00000377044.4	-	4	1177	c.638G>T	c.(637-639)aGt>aTt	p.S213I	TMEM2_ENST00000377066.5_Missense_Mutation_p.S213I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	213	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S213I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGGCATACTTTCACCTTC	0.488																																					p.S213I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638T	9						.						142.0	128.0	132.0					9																	74360330		2203	4300	6503	73550150	SO:0001583	missense	23670	exon4				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.638G>T	9.37:g.74360330C>A	ENSP00000366243:p.Ser213Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73550150	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360144	0.41801	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.88664	-2.41;-2.41	6.03	3.13	0.36017	G8 domain (2);	0.373883	0.36815	N	0.002389	T	0.79845	0.4516	L	0.31065	0.9	0.80722	D	1	B;B	0.26902	0.163;0.135	B;B	0.31495	0.131;0.029	T	0.66905	-0.5805	10	0.24483	T	0.36	.	4.5761	0.12234	0.0:0.5035:0.1545:0.342	.	213;213	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	213	ENSP00000366243:S213I;ENSP00000366266:S213I	ENSP00000366243:S213I	S	-	2	0	TMEM2	73550150	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	1.243000	0.32767	0.402000	0.25451	0.655000	0.94253	AGT		0.488	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
ALDH1A1	216	broad.mit.edu	37	9	75526929	75526929	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:75526929A>G	ENST00000297785.3	-	10	1199	c.1145T>C	c.(1144-1146)gTc>gCc	p.V382A		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	382					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.V382A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGTGGGCTGGACAAAGTAGCC	0.443																																					p.V382A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1145C	9						.						157.0	136.0	143.0					9																	75526929		2203	4300	6503	74716749	SO:0001583	missense	216	exon10			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1145T>C	9.37:g.75526929A>G	ENSP00000297785:p.Val382Ala	Somatic		Capture	Illumina HiSeq	Phase_I	74716749	NM_000689	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164913	0.78339	.	.	ENSG00000165092	ENST00000297785	T	0.79141	-1.24	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.442698	0.22710	N	0.056599	D	0.84284	0.5438	M	0.85099	2.735	0.80722	D	1	B;B	0.26708	0.157;0.079	B;B	0.37833	0.259;0.16	D	0.83960	0.0321	10	0.87932	D	0	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	303;382	B4DDF8;P00352	.;AL1A1_HUMAN	A	382	ENSP00000297785:V382A	ENSP00000297785:V382A	V	-	2	0	ALDH1A1	74716749	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	8.875000	0.92372	2.269000	0.75478	0.533000	0.62120	GTC		0.443	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		
RORB	6096	broad.mit.edu	37	9	77280434	77280434	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:77280434G>C	ENST00000396204.2	+	7	956	c.956G>C	c.(955-957)tGc>tCc	p.C319S	RORB_ENST00000376896.3_Missense_Mutation_p.C308S			Q92753	RORB_HUMAN	RAR-related orphan receptor B	319	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.C308S(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GTGAGAATGTGCCGTGCCTTC	0.308																																					p.C308S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923C	9						.						167.0	145.0	152.0					9																	77280434		2203	4300	6503	76470254	SO:0001583	missense	6096	exon7			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.956G>C	9.37:g.77280434G>C	ENSP00000379507:p.Cys319Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76470254	NM_006914	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	G	15.84	2.952028	0.53293	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96459	-4.02;-4.02	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.095674	0.64402	D	0.000001	D	0.94955	0.8368	N	0.20483	0.58	0.80722	D	1	P;B	0.52463	0.953;0.109	P;B	0.54629	0.757;0.093	D	0.92441	0.5962	10	0.13108	T	0.6	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	319;308	Q92753;Q58EY0	RORB_HUMAN;.	S	308;319	ENSP00000366093:C308S;ENSP00000379507:C319S	ENSP00000366093:C308S	C	+	2	0	RORB	76470254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	TGC		0.308	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TRPM6	140803	broad.mit.edu	37	9	77457135	77457135	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:77457135C>A	ENST00000360774.1	-	4	514	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM6_ENST00000361255.3_Missense_Mutation_p.D88Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D93Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D93Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.D88Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.D93Y|TRPM6_ENST00000451710.3_Missense_Mutation_p.D93Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D93Y	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	93					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D93Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAAAAGTATCTGTTGGGCTT	0.408																																					p.D88Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262T	9						.						198.0	187.0	191.0					9																	77457135		2203	4300	6503	76646955	SO:0001583	missense	140803	exon4			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.277G>T	9.37:g.77457135C>A	ENSP00000354006:p.Asp93Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	76646955	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933493	0.52866	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.79	5.79	0.91817	.	0.096418	0.64402	D	0.000001	D	0.84183	0.5416	M	0.90977	3.165	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.961;0.995	D;D;D;D;P;D	0.71184	0.91;0.944;0.944;0.972;0.761;0.945	D	0.86946	0.2082	10	0.87932	D	0	.	20.0377	0.97569	0.0:1.0:0.0:0.0	.	93;93;93;93;93;88	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	Y	93;93;93;93;88;88;92;93;93	ENSP00000354006:D93Y;ENSP00000407341:D93Y;ENSP00000366068:D93Y;ENSP00000366067:D93Y;ENSP00000396672:D88Y;ENSP00000354962:D88Y;ENSP00000366060:D93Y;ENSP00000351942:D93Y	ENSP00000351942:D93Y	D	-	1	0	TRPM6	76646955	0.998000	0.40836	0.998000	0.56505	0.054000	0.15201	3.777000	0.55364	2.727000	0.93392	0.643000	0.83706	GAT		0.408	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
C9orf41	138199	broad.mit.edu	37	9	77613612	77613612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:77613612C>T	ENST00000376834.3	-	5	964	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	271								p.R271Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						AAAGATGGGTCGAATCTGATC	0.368																																					p.R271Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812A	9						.						72.0	78.0	76.0					9																	77613612		2203	4299	6502	76803432	SO:0001583	missense	138199	exon5			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.812G>A	9.37:g.77613612C>T	ENSP00000366030:p.Arg271Gln	Somatic		Capture	Illumina HiSeq	Phase_I	76803432	NM_152420	Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101759	0.76983	.	.	ENSG00000156017	ENST00000376834;ENST00000451153	T;T	0.04049	3.72;3.72	6.08	6.08	0.98989	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.07234	0.0183	M	0.65498	2.005	0.80722	D	1	P	0.35575	0.51	B	0.27715	0.082	T	0.19031	-1.0318	10	0.32370	T	0.25	-7.1734	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	271	Q8N4J0	CI041_HUMAN	Q	271;210	ENSP00000366030:R271Q;ENSP00000396353:R210Q	ENSP00000366030:R271Q	R	-	2	0	C9orf41	76803432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.894000	0.99253	0.591000	0.81541	CGA		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
C9orf41	138199	broad.mit.edu	37	9	77614638	77614638	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:77614638T>G	ENST00000376834.3	-	4	884				C9orf41_ENST00000376837.3_Intron	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41									p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						AAAAAATAAATTAAATACCTG	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						44.0	46.0	45.0					9																	77614638		2203	4300	6503	76804458	SO:0001627	intron_variant	138199	.			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.731+7A>C	9.37:g.77614638T>G		Somatic		Capture	Illumina HiSeq	Phase_I	76804458	.	Q7Z383|Q8N7C5	Intron	SNP	ENST00000376834.3	37	CCDS6649.1																																																																																				0.308	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
PCSK5	5125	broad.mit.edu	37	9	78710945	78710945	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:78710945C>A	ENST00000545128.1	+	8	1572	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	PCSK5_ENST00000376752.4_Missense_Mutation_p.P345H|PCSK5_ENST00000376767.3_Missense_Mutation_p.P345H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	345	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.P345H(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAAGAAACCTTGGTACCTG	0.517																																					p.P345H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1034A	9						.						157.0	125.0	136.0					9																	78710945		2203	4300	6503	77900765	SO:0001583	missense	5125	exon8				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1034C>A	9.37:g.78710945C>A	ENSP00000446280:p.Pro345His	Somatic		Capture	Illumina HiSeq	Phase_I	77900765	NM_001190482	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116580	0.94385	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	6.05	6.05	0.98169	.	0.048346	0.85682	D	0.000000	D	0.96494	0.8856	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96649	0.9480	10	0.87932	D	0	-13.3141	20.6013	0.99457	0.0:1.0:0.0:0.0	.	345;345	Q92824-2;B1AMG5	.;.	H	345;48;345;345;345;18	ENSP00000446280:P345H;ENSP00000365958:P345H;ENSP00000365943:P345H;ENSP00000411654:P18H	ENSP00000365943:P345H	P	+	2	0	PCSK5	77900765	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	CCT		0.517	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000442371.1_Silent_p.F289F|GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458																																					p.F289F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	9						.						113.0	97.0	102.0					9																	79118164		2203	4300	6503	78307984	SO:0001819	synonymous_variant	2650	exon3			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.867C>T	9.37:g.79118164C>T		Somatic		Capture	Illumina HiSeq	Phase_I	78307984	NM_001097633	Q6DJZ4	Silent	SNP	ENST00000376730.4	37	CCDS6653.1																																																																																				0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
PRUNE2	158471	broad.mit.edu	37	9	79320252	79320252	+	Missense_Mutation	SNP	G	G	A	rs570247552		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79320252G>A	ENST00000376718.3	-	8	7061	c.6938C>T	c.(6937-6939)aCg>aTg	p.T2313M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1954M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2313					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T2313M(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTGTTCCCGTGGATGTGTT	0.483																																					p.T2313M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6938T	9						.						90.0	84.0	86.0					9																	79320252		1568	3582	5150	78510072	SO:0001583	missense	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6938C>T	9.37:g.79320252G>A	ENSP00000365908:p.Thr2313Met	Somatic		Capture	Illumina HiSeq	Phase_I	78510072	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341018	0.41498	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.47869	0.83;0.83	5.79	4.81	0.61882	.	0.113548	0.41001	D	0.000976	T	0.59865	0.2225	M	0.62723	1.935	0.19300	N	0.999971	D	0.89917	1.0	P	0.62184	0.899	T	0.54470	-0.8289	10	0.72032	D	0.01	-14.4572	10.0797	0.42381	0.0763:0.0:0.7191:0.2046	.	2313	Q8WUY3	PRUN2_HUMAN	M	2313;1954;2312	ENSP00000365908:T2313M;ENSP00000397425:T1954M	ENSP00000365908:T2313M	T	-	2	0	PRUNE2	78510072	0.886000	0.30341	0.964000	0.40570	0.581000	0.36288	1.363000	0.34159	2.727000	0.93392	0.655000	0.94253	ACG		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	broad.mit.edu	37	9	79321099	79321099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79321099G>A	ENST00000376718.3	-	8	6214	c.6091C>T	c.(6091-6093)Cca>Tca	p.P2031S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P1672S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2031					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.P2031S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAGAGCCTGGCTTCATTATC	0.478																																					p.P2031S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6091T	9						.						84.0	76.0	78.0					9																	79321099		1568	3582	5150	78510919	SO:0001583	missense	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6091C>T	9.37:g.79321099G>A	ENSP00000365908:p.Pro2031Ser	Somatic		Capture	Illumina HiSeq	Phase_I	78510919	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.003|0.003	-2.447859|-2.447859	0.00178|0.00178	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.37752	.|1.19;1.18	5.85|5.85	-0.933|-0.933	0.10431|0.10431	.|.	.|0.457213	.|0.18690	.|N	.|0.133885	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.01109|0.01109	-1.01|-1.01	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.02654	.|T	.|1	0.172|0.172	6.0346|6.0346	0.19699|0.19699	0.5907:0.1258:0.2835:0.0|0.5907:0.1258:0.2835:0.0	.|.	.|2031	.|Q8WUY3	.|PRUN2_HUMAN	V|S	1352|2031;1672;2030	.|ENSP00000365908:P2031S;ENSP00000397425:P1672S	.|ENSP00000365908:P2031S	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78510919|78510919	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.186000|0.186000	0.16978|0.16978	-0.045000|-0.045000	0.13468|0.13468	-0.290000|-0.290000	0.09829|0.09829	GCC|CCA		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	broad.mit.edu	37	9	79325627	79325627	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79325627G>T	ENST00000376718.3	-	8	1686	c.1563C>A	c.(1561-1563)ttC>ttA	p.F521L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F162L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	521					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.F521L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTGGGGAAGAAGTCATCTG	0.512																																					p.F521L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1563A	9						.						37.0	34.0	35.0					9																	79325627		1568	3582	5150	78515447	SO:0001583	missense	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1563C>A	9.37:g.79325627G>T	ENSP00000365908:p.Phe521Leu	Somatic		Capture	Illumina HiSeq	Phase_I	78515447	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456687	0.63401	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.57752	0.45;0.38	5.71	4.82	0.62117	.	0.000000	0.46145	D	0.000313	T	0.38348	0.1037	L	0.29908	0.895	0.80722	D	1	P	0.40970	0.734	B	0.37731	0.257	T	0.27938	-1.0059	10	0.48119	T	0.1	.	8.9168	0.35587	0.2347:0.0:0.7653:0.0	.	521	Q8WUY3	PRUN2_HUMAN	L	521;162;520	ENSP00000365908:F521L;ENSP00000397425:F162L	ENSP00000365908:F521L	F	-	3	2	PRUNE2	78515447	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.559000	0.45888	1.434000	0.47414	0.655000	0.94253	TTC		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79820958	79820958	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79820958A>C	ENST00000360280.3	+	5	608	c.348A>C	c.(346-348)aaA>aaC	p.K116N	VPS13A_ENST00000357409.5_Missense_Mutation_p.K116N|VPS13A_ENST00000376634.4_Missense_Mutation_p.K116N|VPS13A_ENST00000376636.3_Missense_Mutation_p.K116N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	116					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K116N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGAACTGAAAAGAATAGAAG	0.289																																					p.K116N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A348C	9						.						76.0	76.0	76.0					9																	79820958		2200	4294	6494	79010778	SO:0001583	missense	23230	exon5			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.348A>C	9.37:g.79820958A>C	ENSP00000353422:p.Lys116Asn	Somatic		Capture	Illumina HiSeq	Phase_I	79010778	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.79|11.79	1.743907|1.743907	0.30865|0.30865	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000545365	D;D;D;D|.	0.83163|.	-1.69;-1.69;-1.69;-1.69|.	5.4|5.4	0.0926|0.0926	0.14473|0.14473	.|.	0.117044|0.117044	0.64402|0.64402	N|D	0.000019|0.000019	T|T	0.37237|0.37237	0.0996|0.0996	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.14438|.	0.002;0.01;0.004;0.004|.	B;B;B;B|.	0.13407|.	0.006;0.009;0.009;0.005|.	T|T	0.07028|0.07028	-1.0794|-1.0794	10|7	0.46703|0.10111	T|T	0.11|0.7	.|.	4.2127|4.2127	0.10519|0.10519	0.4905:0.0:0.1299:0.3795|0.4905:0.0:0.1299:0.3795	.|.	116;116;116;116|.	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;VP13A_HUMAN;.;.|.	N|Q	116|70	ENSP00000365821:K116N;ENSP00000365823:K116N;ENSP00000353422:K116N;ENSP00000349985:K116N|.	ENSP00000349985:K116N|ENSP00000444300:K70Q	K|K	+|+	3|1	2|0	VPS13A|VPS13A	79010778|79010778	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.729000|0.729000	0.41735|0.41735	0.477000|0.477000	0.22196|0.22196	0.398000|0.398000	0.25338|0.25338	-0.341000|-0.341000	0.08007|0.08007	AAA|AAG		0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79829248	79829248	+	Missense_Mutation	SNP	G	G	A	rs375565825		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79829248G>A	ENST00000360280.3	+	10	960	c.700G>A	c.(700-702)Gac>Aac	p.D234N	VPS13A_ENST00000357409.5_Missense_Mutation_p.D234N|VPS13A_ENST00000376634.4_Missense_Mutation_p.D234N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D234N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	234					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.D234N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTAATAGGACGACTTGAAGAA	0.343																																					p.D234N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G700A	9						.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	73.0	76.0	75.0		700,700,700,700	-0.9	0.0	9		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	234/3136,234/3070,234/3096,234/3175	79829248	1,13005	2203	4300	6503	79019068	SO:0001583	missense	23230	exon10			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.700G>A	9.37:g.79829248G>A	ENSP00000353422:p.Asp234Asn	Somatic		Capture	Illumina HiSeq	Phase_I	79019068	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	4.993	0.184418	0.09495	0.0	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46819	1.03;0.86;0.94;1.03	6.02	-0.894	0.10563	.	0.990073	0.08244	N	0.975681	T	0.16811	0.0404	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.20140	-1.0284	10	0.16896	T	0.51	.	1.8404	0.03149	0.4865:0.2245:0.1803:0.1088	.	234;234;234;234	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	234	ENSP00000365821:D234N;ENSP00000365823:D234N;ENSP00000353422:D234N;ENSP00000349985:D234N	ENSP00000349985:D234N	D	+	1	0	VPS13A	79019068	0.016000	0.18221	0.000000	0.03702	0.357000	0.29423	1.202000	0.32271	-0.055000	0.13244	-1.809000	0.00614	GAC		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79867194	79867194	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79867194G>T	ENST00000360280.3	+	22	2474	c.2214G>T	c.(2212-2214)caG>caT	p.Q738H	VPS13A_ENST00000357409.5_Missense_Mutation_p.Q738H|VPS13A_ENST00000376634.4_Missense_Mutation_p.Q738H|VPS13A_ENST00000376636.3_Missense_Mutation_p.Q738H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	738					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.Q738H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCTACCCAGCATATTTTGG	0.358																																					p.Q738H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2214T	9						.						219.0	208.0	212.0					9																	79867194		2203	4300	6503	79057014	SO:0001583	missense	23230	exon22			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2214G>T	9.37:g.79867194G>T	ENSP00000353422:p.Gln738His	Somatic		Capture	Illumina HiSeq	Phase_I	79057014	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.826064	0.32237	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.46	-2.22	0.06952	.	0.088452	0.48286	D	0.000184	T	0.53302	0.1788	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.69078	0.993;0.997;0.996;0.996	P;P;D;D	0.65573	0.878;0.864;0.936;0.936	T	0.51124	-0.8745	10	0.17369	T	0.5	.	12.038	0.53435	0.5144:0.0:0.4856:0.0	.	738;738;738;738	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	738	ENSP00000365821:Q738H;ENSP00000365823:Q738H;ENSP00000353422:Q738H;ENSP00000349985:Q738H	ENSP00000349985:Q738H	Q	+	3	2	VPS13A	79057014	0.948000	0.32251	0.448000	0.26945	0.831000	0.47069	-0.011000	0.12721	-0.854000	0.04131	-0.459000	0.05422	CAG		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79910471	79910471	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79910471A>C	ENST00000360280.3	+	33	3781	c.3521A>C	c.(3520-3522)aAt>aCt	p.N1174T	VPS13A_ENST00000357409.5_Missense_Mutation_p.N1174T|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1174T|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1135T|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1174					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.N1174T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTATAGATAATTTTCAGGCA	0.348																																					p.N1135T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3404C	9						.						42.0	43.0	43.0					9																	79910471		2203	4300	6503	79100291	SO:0001583	missense	23230	exon32			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3521A>C	9.37:g.79910471A>C	ENSP00000353422:p.Asn1174Thr	Somatic		Capture	Illumina HiSeq	Phase_I	79100291	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274842	0.80580	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.51817	0.87;0.69;0.78;0.87	5.5	5.5	0.81552	.	0.117195	0.56097	D	0.000030	T	0.68513	0.3009	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.87578	0.972;0.998;0.988;0.988	T	0.66984	-0.5785	10	0.27785	T	0.31	.	15.9147	0.79503	1.0:0.0:0.0:0.0	.	1135;1174;1174;1174	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	1174;1135;1174;1174	ENSP00000365821:N1174T;ENSP00000365823:N1135T;ENSP00000353422:N1174T;ENSP00000349985:N1174T	ENSP00000349985:N1174T	N	+	2	0	VPS13A	79100291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.777000	0.91781	2.227000	0.72691	0.460000	0.39030	AAT		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79929448	79929448	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:79929448T>G	ENST00000360280.3	+	37	4540	c.4280T>G	c.(4279-4281)cTt>cGt	p.L1427R	VPS13A_ENST00000357409.5_Missense_Mutation_p.L1427R|VPS13A_ENST00000376634.4_Missense_Mutation_p.L1427R|VPS13A_ENST00000376636.3_Missense_Mutation_p.L1388R|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1427					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.L1427R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCTGAAACTTGCTGAATTT	0.299																																					p.L1388R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4163G	9						.						77.0	82.0	80.0					9																	79929448		2200	4295	6495	79119268	SO:0001583	missense	23230	exon36			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4280T>G	9.37:g.79929448T>G	ENSP00000353422:p.Leu1427Arg	Somatic		Capture	Illumina HiSeq	Phase_I	79119268	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419422	0.83559	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.72942	-0.48;-0.7;-0.6;-0.5	5.67	5.67	0.87782	.	0.236011	0.29964	N	0.010748	D	0.83774	0.5327	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;1.0	D	0.85496	0.1188	10	0.66056	D	0.02	.	15.5866	0.76489	0.0:0.0:0.0:1.0	.	1388;1427;1427;1427	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	R	1427;1388;1427;1427	ENSP00000365821:L1427R;ENSP00000365823:L1388R;ENSP00000353422:L1427R;ENSP00000349985:L1427R	ENSP00000349985:L1427R	L	+	2	0	VPS13A	79119268	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.020000	0.76419	2.160000	0.67779	0.445000	0.29226	CTT		0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468			Mis		uveal melanoma																																p.R183X			Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	9						.						155.0	118.0	131.0					9																	80412494		2203	4300	6503	79602314	SO:0001587	stop_gained	2776	exon4				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.547C>T	9.37:g.80412494G>A	ENSP00000286548:p.Arg183*	Somatic		Capture	Illumina HiSeq	Phase_I	79602314	NM_002072	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	GNAQ	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072	
GNAQ	2776	broad.mit.edu	37	9	80430605	80430605	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:80430605A>C	ENST00000286548.4	-	3	625	c.403T>G	c.(403-405)Tta>Gta	p.L135V	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	135					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.L135V(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TCATTCCATAAACTCTTTATT	0.383			Mis		uveal melanoma																																p.L135V			Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T403G	9						.						120.0	107.0	111.0					9																	80430605		2203	4298	6501	79620425	SO:0001583	missense	2776	exon3				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.403T>G	9.37:g.80430605A>C	ENSP00000286548:p.Leu135Val	Somatic		Capture	Illumina HiSeq	Phase_I	79620425	NM_002072	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.865221	0.51482	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.93906	-3.31;-3.31	6.01	6.01	0.97437	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.73753	2.245	0.80722	D	1	B	0.19583	0.037	B	0.32583	0.148	D	0.91753	0.5414	10	0.72032	D	0.01	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	135	P50148	GNAQ_HUMAN	V	135;106	ENSP00000286548:L135V;ENSP00000391501:L106V	ENSP00000286548:L135V	L	-	1	2	GNAQ	79620425	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.334000	0.43920	2.307000	0.77673	0.528000	0.53228	TTA		0.383	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072	
CEP78	84131	broad.mit.edu	37	9	80879187	80879187	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:80879187C>A	ENST00000424347.2	+	13	1869	c.1580C>A	c.(1579-1581)tCt>tAt	p.S527Y	CEP78_ENST00000376597.4_Missense_Mutation_p.S528Y|CEP78_ENST00000415759.2_Missense_Mutation_p.S528Y|CEP78_ENST00000376598.2_Missense_Mutation_p.S527Y|CEP78_ENST00000277082.5_Missense_Mutation_p.S527Y			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	527					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S527Y(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATTGAGAATTCTTTTCAGAAG	0.378																																					p.S528Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1583A	9						.						109.0	105.0	107.0					9																	80879187		1852	4094	5946	80069007	SO:0001583	missense	84131	exon13			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1580C>A	9.37:g.80879187C>A	ENSP00000411284:p.Ser527Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	80069007	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.540580	0.85917	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.56776	0.48;0.65;0.44;0.47;0.46	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.77103	2.36	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77616	-0.2521	10	0.87932	D	0	-13.5636	18.3668	0.90394	0.0:1.0:0.0:0.0	.	528;528;527	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	Y	527;527;528;528;527;527	ENSP00000411284:S527Y;ENSP00000399286:S528Y;ENSP00000365782:S528Y;ENSP00000277082:S527Y;ENSP00000365783:S527Y	ENSP00000277082:S527Y	S	+	2	0	CEP78	80069007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.587000	0.74071	2.556000	0.86216	0.563000	0.77884	TCT		0.378	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
CEP78	84131	broad.mit.edu	37	9	80881481	80881481	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:80881481C>T	ENST00000424347.2	+	15	2210	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	CEP78_ENST00000376597.4_Missense_Mutation_p.R658W|CEP78_ENST00000415759.2_Missense_Mutation_p.R642W|CEP78_ENST00000376598.2_Missense_Mutation_p.R657W|CEP78_ENST00000277082.5_Missense_Mutation_p.R641W			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	641					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.R641W(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TACTGAGCAGCGGCAGGAGTC	0.483																																					p.R658W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1972T	9						.						49.0	49.0	49.0					9																	80881481		1901	4120	6021	80071301	SO:0001583	missense	84131	exon16			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1921C>T	9.37:g.80881481C>T	ENSP00000411284:p.Arg641Trp	Somatic		Capture	Illumina HiSeq	Phase_I	80071301	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.820712	0.50633	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.29142	1.6;1.79;1.58;1.6;1.58	6.17	4.32	0.51571	.	1.265650	0.05346	N	0.530979	T	0.31263	0.0791	L	0.44542	1.39	0.09310	N	1	B;D;B	0.60160	0.001;0.987;0.001	B;P;B	0.46049	0.0;0.502;0.0	T	0.19321	-1.0309	10	0.72032	D	0.01	0.3957	3.4604	0.07531	0.141:0.5785:0.1358:0.1447	.	642;658;641	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	W	641;657;642;658;641;657	ENSP00000411284:R641W;ENSP00000399286:R642W;ENSP00000365782:R658W;ENSP00000277082:R641W;ENSP00000365783:R657W	ENSP00000277082:R641W	R	+	1	2	CEP78	80071301	0.006000	0.16342	0.256000	0.24389	0.838000	0.47535	0.973000	0.29422	0.914000	0.36822	0.655000	0.94253	CGG		0.483	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
CHCHD2P9	645345	broad.mit.edu	37	9	82006505	82006505	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:82006505A>G								RP11-165H23.1 (245916 upstream) : RP11-375O18.2 (125196 downstream)														p.D96G(1)									GCGAGGCCTGACATCGCTTAC	0.617																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	9						.						38.0	38.0	38.0					9																	82006505		2203	4300	6503	81196325	SO:0001628	intergenic_variant	0	.																															9.37:g.82006505A>G		Somatic		Capture	Illumina HiSeq	Phase_I	81196325	.		IGR	SNP		37																																																																																				0	0.617								
TLE4	7091	broad.mit.edu	37	9	82189837	82189837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:82189837C>T	ENST00000376552.2	+	3	1211	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R65W|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.R65W|TLE4_ENST00000376544.3_Missense_Mutation_p.R65W|TLE4_ENST00000265284.6_Missense_Mutation_p.R65W	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	65	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.R65W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAGATGCAGCGGCATTATGT	0.388																																					p.R65W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193T	9						.						115.0	111.0	113.0					9																	82189837		1941	4164	6105	81379657	SO:0001583	missense	7091	exon3			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.193C>T	9.37:g.82189837C>T	ENSP00000365735:p.Arg65Trp	Somatic		Capture	Illumina HiSeq	Phase_I	81379657	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612349	0.87258	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	T;T;T;T;T;T;T;T;T	0.67865	-0.16;-0.29;-0.28;0.09;2.29;-0.28;-0.04;0.13;0.58	5.33	5.33	0.75918	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.90870	0.4745	10	0.87932	D	0	-17.2875	19.0195	0.92908	0.0:1.0:0.0:0.0	.	65;65;65;65	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	W	65;65;65;65;65;65;65;65;63;50	ENSP00000365735:R65W;ENSP00000365727:R65W;ENSP00000365703:R65W;ENSP00000415423:R65W;ENSP00000397822:R65W;ENSP00000365720:R65W;ENSP00000265284:R65W;ENSP00000412567:R63W;ENSP00000409313:R50W	ENSP00000265284:R65W	R	+	1	2	TLE4	81379657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.218000	0.51192	2.500000	0.84329	0.561000	0.74099	CGG		0.388	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TLE4	7091	broad.mit.edu	37	9	82319823	82319823	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:82319823T>G	ENST00000376552.2	+	9	1747				TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376537.4_Intron|TLE4_ENST00000376520.4_Intron|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Intron	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTATGTAAGTTCATTCACCT	0.448																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						123.0	118.0	120.0					9																	82319823		1948	4138	6086	81509643	SO:0001627	intron_variant	7091	.			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.729+6T>G	9.37:g.82319823T>G		Somatic		Capture	Illumina HiSeq	Phase_I	81509643	.	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Intron	SNP	ENST00000376552.2	37	CCDS43837.1																																																																																				0.448	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TLE4	7091	broad.mit.edu	37	9	82322046	82322046	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:82322046T>C	ENST00000376552.2	+	11	1954				TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376537.4_Silent_p.D315D|TLE4_ENST00000376520.4_Silent_p.D315D|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Intron	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.D315D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAAGAGGGATATGGGGAAAT	0.353																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	9						.						211.0	184.0	192.0					9																	82322046		876	1991	2867	81511866	SO:0001627	intron_variant	7091	.			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.936+232T>C	9.37:g.82322046T>C		Somatic		Capture	Illumina HiSeq	Phase_I	81511866	.	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	T	8.551	0.875622	0.17395	.	.	ENSG00000106829	ENST00000417836	.	.	.	4.95	-0.317	0.12736	.	.	.	.	.	T	0.20740	0.0499	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	4	.	.	.	-1.0923	1.7555	0.02981	0.269:0.0866:0.138:0.5064	.	.	.	.	T	48	.	.	I	+	2	0	TLE4	81511866	0.000000	0.05858	0.023000	0.16930	0.491000	0.33493	-0.006000	0.12833	0.336000	0.23639	0.528000	0.53228	ATA		0.353	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TLE1	7088	broad.mit.edu	37	9	84205956	84205956	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:84205956A>G	ENST00000376499.3	-	16	2657	c.1593T>C	c.(1591-1593)aaT>aaC	p.N531N		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	531					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.N531N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AACGGATATAATTGTCTCTGT	0.443																																					p.N531N	NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1593C	9						.						75.0	74.0	75.0					9																	84205956		2203	4300	6503	83395776	SO:0001819	synonymous_variant	7088	exon16				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1593T>C	9.37:g.84205956A>G		Somatic		Capture	Illumina HiSeq	Phase_I	83395776	NM_005077	A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	CCDS6661.1																																																																																				0.443	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	
SPATA31D1	389763	broad.mit.edu	37	9	84606668	84606668	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:84606668G>T	ENST00000344803.2	+	4	1330	c.1283G>T	c.(1282-1284)tGg>tTg	p.W428L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	428					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.W428L(2)									TTCCTGATGTGGAAAGAAAAT	0.418																																					p.W428L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1283T	9						.						85.0	75.0	78.0					9																	84606668		1850	4093	5943	83796488	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1283G>T	9.37:g.84606668G>T	ENSP00000341988:p.Trp428Leu	Somatic		Capture	Illumina HiSeq	Phase_I	83796488	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.108291	0.01813	.	.	ENSG00000214929	ENST00000344803	T	0.05855	3.38	3.41	-3.15	0.05233	.	3.511140	0.00659	N	0.000580	T	0.07818	0.0196	M	0.65498	2.005	0.09310	N	1	B	0.27416	0.178	B	0.30251	0.113	T	0.30966	-0.9960	10	0.26408	T	0.33	1.0725	0.3924	0.00412	0.22:0.1629:0.2862:0.331	.	428	Q6ZQQ2	F75D1_HUMAN	L	428	ENSP00000341988:W428L	ENSP00000341988:W428L	W	+	2	0	FAM75D1	83796488	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.008000	0.13197	-0.827000	0.04278	0.650000	0.86243	TGG		0.418	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31B1P	404770	broad.mit.edu	37	9	84675908	84675908	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:84675908A>G								SPATA31D1 (65737 upstream) : RP11-15B24.5 (211762 downstream)														p.S173P(1)									AGGAGCAGTGAAGTCTTTTGG	0.567																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	9						.						201.0	205.0	203.0					9																	84675908		2039	4185	6224	83865728	SO:0001628	intergenic_variant	0	.																															9.37:g.84675908A>G		Somatic		Capture	Illumina HiSeq	Phase_I	83865728	.		IGR	SNP		37		.	.	.	.	.	.	.	.	.	.	A	8.095	0.775344	0.16051	.	.	ENSG00000204561	ENST00000376458	.	.	.	1.03	-0.814	0.10846	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.23542	N	0.997458	B	0.02656	0.0	B	0.04013	0.001	T	0.19386	-1.0307	6	0.46703	T	0.11	.	3.332	0.07088	0.5877:0.0:0.4123:0.0	.	173	Q5VZV4	FA75B_HUMAN	P	173	.	ENSP00000365641:S173P	S	-	1	0	FAM75B	83865728	0.001000	0.12720	0.006000	0.13384	0.169000	0.22640	-0.444000	0.06854	-0.211000	0.10124	0.102000	0.15555	TCA	0	0.567								
IDNK	414328	broad.mit.edu	37	9	86258426	86258426	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86258426G>T	ENST00000376419.4	+	5	299	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	IDNK_ENST00000454393.1_Missense_Mutation_p.D142Y|IDNK_ENST00000277124.8_Missense_Mutation_p.D53Y|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_Missense_Mutation_p.R84I	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	99					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)	p.D53Y(1)									ACAAGGAAAAGATGGTGTAGC	0.488																																					p.D99Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295T	9						.						79.0	78.0	78.0					9																	86258426		2203	4300	6503	85448246	SO:0001583	missense	414328	exon5			BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.295G>T	9.37:g.86258426G>T	ENSP00000365601:p.Asp99Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	85448246	NM_001001551	A5PLN6|Q5T6J6	Missense_Mutation	SNP	ENST00000376419.4	37	CCDS35048.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.814098|1.814098	0.32053|0.32053	.|.	.|.	ENSG00000148057|ENSG00000148057	ENST00000277124;ENST00000530832;ENST00000376419;ENST00000454393|ENST00000376417	T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58|.	5.53|5.53	-0.439|-0.439	0.12264|0.12264	.|.	1.123920|.	0.06589|.	N|.	0.751719|.	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.11892|0.11892	0.195|0.195	0.09310|0.09310	N|N	1|1	B|.	0.20780|.	0.048|.	B|.	0.29267|.	0.1|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|6	0.66056|0.02654	D|T	0.02|1	-7.5855|-7.5855	2.1233|2.1233	0.03731|0.03731	0.2455:0.1356:0.4807:0.1382|0.2455:0.1356:0.4807:0.1382	.|.	99|.	Q5T6J7|.	GNTK_HUMAN|.	Y|I	53;53;99;142|84	ENSP00000277124:D53Y;ENSP00000436381:D53Y;ENSP00000365601:D99Y;ENSP00000403290:D142Y|.	ENSP00000277124:D53Y|ENSP00000365599:R84I	D|R	+|+	1|2	0|0	C9orf103|C9orf103	85448246|85448246	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.212000|0.212000	0.24457|0.24457	0.326000|0.326000	0.19646|0.19646	0.160000|0.160000	0.19432|0.19432	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.488	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551	
UBQLN1	29979	broad.mit.edu	37	9	86276755	86276755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86276755C>A	ENST00000376395.4	-	11	2240	c.1717G>T	c.(1717-1719)Gga>Tga	p.G573*	UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.G545*	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	573	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.G573*(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ATATCACCTCCTGTTGCTATT	0.403																																					p.G545X	Melanoma(186;1284 2073 12755 14558 18426)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1633T	9						.						164.0	151.0	156.0					9																	86276755		2203	4300	6503	85466575	SO:0001587	stop_gained	29979	exon10			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1717G>T	9.37:g.86276755C>A	ENSP00000365576:p.Gly573*	Somatic		Capture	Illumina HiSeq	Phase_I	85466575	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Nonsense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	40	8.318972	0.98757	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	.	.	.	5.28	4.38	0.52667	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.3858	0.83504	0.0:0.8682:0.1318:0.0	.	.	.	.	X	573;545	.	ENSP00000257468:G545X	G	-	1	0	UBQLN1	85466575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	1.358000	0.45922	0.644000	0.83932	GGA		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
UBQLN1	29979	broad.mit.edu	37	9	86297907	86297907	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86297907T>G	ENST00000376395.4	-	3	930	c.407A>C	c.(406-408)aAc>aCc	p.N136T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.N136T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	136					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.N136T(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGATGTAGAGTTACTATTAGG	0.408																																					p.N136T	Melanoma(186;1284 2073 12755 14558 18426)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A407C	9						.						172.0	157.0	162.0					9																	86297907		2203	4300	6503	85487727	SO:0001583	missense	29979	exon3			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.407A>C	9.37:g.86297907T>G	ENSP00000365576:p.Asn136Thr	Somatic		Capture	Illumina HiSeq	Phase_I	85487727	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	T	5.351	0.250092	0.10130	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.83419	-1.72;-1.72	5.11	3.97	0.46021	.	0.351823	0.29579	N	0.011746	T	0.59169	0.2174	N	0.04508	-0.205	0.31187	N	0.701345	B;B	0.14012	0.002;0.009	B;B	0.14023	0.006;0.01	T	0.52215	-0.8605	10	0.13853	T	0.58	.	5.185	0.15180	0.0:0.1689:0.2072:0.624	.	136;136	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	136	ENSP00000365576:N136T;ENSP00000257468:N136T	ENSP00000257468:N136T	N	-	2	0	UBQLN1	85487727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.556000	0.36288	0.900000	0.36469	0.533000	0.62120	AAC		0.408	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
KIF27	55582	broad.mit.edu	37	9	86506408	86506408	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86506408T>G	ENST00000297814.2	-	6	1754	c.1611A>C	c.(1609-1611)aaA>aaC	p.K537N	KIF27_ENST00000376347.1_5'Flank|KIF27_ENST00000413982.1_Missense_Mutation_p.K537N|KIF27_ENST00000334204.2_Missense_Mutation_p.K537N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	537					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K537N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTCTATTATTTTTTCATTCT	0.299																																					p.K537N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1611C	9						.						42.0	39.0	40.0					9																	86506408		2203	4296	6499	85696228	SO:0001583	missense	55582	exon6			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1611A>C	9.37:g.86506408T>G	ENSP00000297814:p.Lys537Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85696228	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537723	0.65085	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.58652	0.32;0.32;0.32	5.07	3.94	0.45596	.	0.000000	0.64402	D	0.000009	T	0.71039	0.3293	M	0.69823	2.125	0.37535	D	0.918065	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.959;0.994	T	0.72821	-0.4177	10	0.38643	T	0.18	.	9.7099	0.40238	0.0:0.0835:0.0:0.9165	.	537;537;537	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	537	ENSP00000297814:K537N;ENSP00000401688:K537N;ENSP00000333928:K537N	ENSP00000297814:K537N	K	-	3	2	KIF27	85696228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.855000	0.48333	0.978000	0.38470	0.528000	0.53228	AAA		0.299	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
C9orf64	84267	broad.mit.edu	37	9	86571358	86571358	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86571358C>T	ENST00000376344.3	-	1	274	c.58G>A	c.(58-60)Gat>Aat	p.D20N	C9orf64_ENST00000376340.2_5'Flank|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	20								p.D20N(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATAAACACATCCCGACTGTTT	0.607																																					p.D20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	9						.						48.0	53.0	52.0					9																	86571358		1960	4165	6125	85761178	SO:0001583	missense	84267	exon1			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.58G>A	9.37:g.86571358C>T	ENSP00000365522:p.Asp20Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85761178	NM_032307	B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	32	5.106998	0.94292	.	.	ENSG00000165118	ENST00000376344	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68823	-0.5307	9	0.24483	T	0.36	-19.5413	18.4268	0.90612	0.0:1.0:0.0:0.0	.	20	Q5T6V5	CI064_HUMAN	N	20	.	ENSP00000365522:D20N	D	-	1	0	C9orf64	85761178	1.000000	0.71417	0.641000	0.29422	0.941000	0.58515	7.147000	0.77382	2.435000	0.82474	0.462000	0.41574	GAT		0.607	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307	
RMI1	80010	broad.mit.edu	37	9	86616399	86616399	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86616399A>C	ENST00000325875.3	+	3	830	c.498A>C	c.(496-498)aaA>aaC	p.K166N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	166					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.K166N(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CAGGTACAAAAATTTTGATTT	0.368																																					p.K166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A498C	9						.						54.0	56.0	55.0					9																	86616399		2203	4298	6501	85806219	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.498A>C	9.37:g.86616399A>C	ENSP00000317039:p.Lys166Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85806219	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918255	0.52546	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	D;T	0.82711	-1.64;-1.06	5.76	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.94698	3.57	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.92319	0.5864	10	0.87932	D	0	-20.6128	8.487	0.33078	0.7902:0.0:0.2098:0.0	.	166	Q9H9A7	RMI1_HUMAN	N	166	ENSP00000402433:K166N;ENSP00000317039:K166N	ENSP00000317039:K166N	K	+	3	2	RMI1	85806219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	1.070000	0.40811	0.528000	0.53228	AAA		0.368	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
SLC28A3	64078	broad.mit.edu	37	9	86955481	86955481	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:86955481C>A	ENST00000376238.4	-	1	110				SLC28A3_ENST00000537648.1_Intron|SLC28A3_ENST00000495823.1_Intron	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.?(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GAGGAAAGCTCTGCTCACCTG	0.527																																					.	Ovarian(106;425 1539 34835 42413 43572)											.	.	1	Unknown(1)	large_intestine(1)	.	9						.						136.0	120.0	126.0					9																	86955481		2203	4300	6503	86145301	SO:0001627	intron_variant	64078	.			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.60+7G>T	9.37:g.86955481C>A		Somatic		Capture	Illumina HiSeq	Phase_I	86145301	.	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Intron	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.527	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
NTRK2	4915	broad.mit.edu	37	9	87339188	87339188	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:87339188C>T	ENST00000323115.4	+	7	1123	c.770C>T	c.(769-771)tCc>tTc	p.S257F	NTRK2_ENST00000395882.1_Missense_Mutation_p.S257F|NTRK2_ENST00000376214.1_Missense_Mutation_p.S257F|NTRK2_ENST00000376208.1_Missense_Mutation_p.S257F|NTRK2_ENST00000376213.1_Missense_Mutation_p.S257F|NTRK2_ENST00000277120.3_Missense_Mutation_p.S257F|NTRK2_ENST00000304053.6_Missense_Mutation_p.S257F|NTRK2_ENST00000359847.3_Missense_Mutation_p.S257F|NTRK2_ENST00000395866.2_Missense_Mutation_p.S101F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	257	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.S257F(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AACATTTCATCCGATGACAGT	0.403										TSP Lung(25;0.17)																											p.S257F												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C770T	9						.						173.0	164.0	167.0					9																	87339188		2203	4300	6503	86529008	SO:0001583	missense	4915	exon10			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.770C>T	9.37:g.87339188C>T	ENSP00000314586:p.Ser257Phe	Somatic		Capture	Illumina HiSeq	Phase_I	86529008	NM_001018064	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022395	0.75275	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.121555	0.64402	D	0.000019	T	0.59183	0.2175	L	0.47190	1.495	0.54753	D	0.999989	D;D;D;D;B;B;D;D	0.62365	0.967;0.971;0.971;0.991;0.445;0.391;0.96;0.988	P;D;D;D;P;P;D;D	0.67900	0.887;0.924;0.924;0.954;0.719;0.779;0.912;0.924	T	0.60219	-0.7306	10	0.66056	D	0.02	.	19.2585	0.93957	0.0:1.0:0.0:0.0	.	101;257;257;257;257;257;303;257	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	F	257;257;257;257;257;257;257;257;101	ENSP00000365387:S257F;ENSP00000365386:S257F;ENSP00000379221:S257F;ENSP00000365381:S257F;ENSP00000306167:S257F;ENSP00000277120:S257F;ENSP00000314586:S257F;ENSP00000352906:S257F;ENSP00000379207:S101F	ENSP00000277120:S257F	S	+	2	0	NTRK2	86529008	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	6.453000	0.73488	2.627000	0.88993	0.460000	0.39030	TCC		0.403	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
AGTPBP1	23287	broad.mit.edu	37	9	88234224	88234224	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:88234224A>C	ENST00000357081.3	-	16	2244				AGTPBP1_ENST00000376109.3_Intron|AGTPBP1_ENST00000376083.3_Intron|AGTPBP1_ENST00000337006.4_Intron|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1						adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TAACTAAATAAAAGTTTTAAA	0.269																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						23.0	23.0	23.0					9																	88234224		2180	4275	6455	87424044	SO:0001627	intron_variant	23287	.			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2100-8T>G	9.37:g.88234224A>C		Somatic		Capture	Illumina HiSeq	Phase_I	87424044	.	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Intron	SNP	ENST00000357081.3	37																																																																																					0.269	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
ISCA1	81689	broad.mit.edu	37	9	88881084	88881084	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:88881084C>A	ENST00000375991.4	-	4	334	c.264G>T	c.(262-264)aaG>aaT	p.K88N	ISCA1_ENST00000452279.2_Missense_Mutation_p.K135N|ISCA1_ENST00000311534.6_5'UTR	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	88					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.K88N(1)		endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		GCTGTGCTTTCTTTTCGATGA	0.393																																					p.K88N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	9						.						91.0	100.0	97.0					9																	88881084		2203	4300	6503	88070904	SO:0001583	missense	81689	exon4			AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.264G>T	9.37:g.88881084C>A	ENSP00000365159:p.Lys88Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88070904	NM_030940	B3KP34|B4DJI5|Q8ND75|Q9BZR2	Missense_Mutation	SNP	ENST00000375991.4	37	CCDS35056.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930972	0.52866	.	.	ENSG00000135070	ENST00000375991;ENST00000452279	.	.	.	5.68	4.78	0.61160	FeS cluster biogenesis (3);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.77712	2.385	0.80722	D	1	B	0.21606	0.058	B	0.22753	0.041	T	0.68055	-0.5510	9	0.49607	T	0.09	-35.4972	14.7624	0.69614	0.0:0.9307:0.0:0.0693	.	88	Q9BUE6	ISCA1_HUMAN	N	88;135	.	ENSP00000365159:K88N	K	-	3	2	ISCA1	88070904	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.751000	0.55165	1.551000	0.49450	0.650000	0.86243	AAG		0.393	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940	
ZCCHC6	79670	broad.mit.edu	37	9	88940427	88940427	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:88940427C>A	ENST00000375963.3	-	12	1783	c.1611G>T	c.(1609-1611)gtG>gtT	p.V537V	ZCCHC6_ENST00000375960.2_Silent_p.V414V|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Silent_p.V537V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	537					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.V537V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATATTAATGACACCTATTAAT	0.343																																					p.V414V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1242T	9						.						56.0	55.0	56.0					9																	88940427		2203	4300	6503	88130247	SO:0001819	synonymous_variant	79670	exon8			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1611G>T	9.37:g.88940427C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88130247	NM_001185074	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																				0.343	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
DAPK1	1612	broad.mit.edu	37	9	90255286	90255286	+	Missense_Mutation	SNP	G	G	A	rs548113187		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:90255286G>A	ENST00000408954.3	+	8	1038	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DAPK1_ENST00000358077.5_Missense_Mutation_p.E235K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E235K|DAPK1_ENST00000472284.1_Missense_Mutation_p.E235K|DAPK1_ENST00000469640.2_Missense_Mutation_p.E235K	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E235K(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTCAACTACGAATTTGAGGA	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.E235K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G703A	9						.						108.0	104.0	105.0					9																	90255286		1893	4121	6014	89445106	SO:0001583	missense	1612	exon8	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.703G>A	9.37:g.90255286G>A	ENSP00000386135:p.Glu235Lys	Somatic		Capture	Illumina HiSeq	Phase_I	89445106	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457659	0.63401	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.237223	0.27866	N	0.017530	T	0.47002	0.1422	N	0.16098	0.37	0.39063	D	0.960569	P;B;P	0.42296	0.775;0.155;0.558	B;B;B	0.36464	0.225;0.098;0.061	T	0.57382	-0.7821	10	0.52906	T	0.07	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	235;235;235	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	K	235	ENSP00000350785:E235K;ENSP00000417076:E235K;ENSP00000418885:E235K;ENSP00000386135:E235K;ENSP00000419026:E235K	ENSP00000350785:E235K	E	+	1	0	DAPK1	89445106	1.000000	0.71417	0.968000	0.41197	0.955000	0.61496	5.357000	0.66058	2.634000	0.89283	0.655000	0.94253	GAA		0.423	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
DAPK1	1612	broad.mit.edu	37	9	90315114	90315115	+	Nonsense_Mutation	DNP	CG	CG	TA			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:90315114_90315115CG>TA	ENST00000408954.3	+	24	3168_3169	c.2833_2834CG>TA	c.(2833-2835)CGa>TAa	p.R945*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R945*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R879*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R945*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R945*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	945					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R946>?(1)|p.R946*(1)|p.R945*(1)|p.R945>?(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAAGGTACTTCGAAATCATCTG	0.45									Chronic Lymphocytic Leukemia, Familial Clustering of																												.												.	.	4	Substitution - Nonsense(2)|Complex(2)	large_intestine(4)	c.2833_2834TA	9						NA																																			89504935	SO:0001587	stop_gained	1612	exon24	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	Exception_encountered	9.37:g.90315114_90315115delinsTA	ENSP00000386135:p.Arg945*	Somatic		Capture	Illumina HiSeq	Phase_I	89504934	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	DNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.450	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SPATA31E1	286234	broad.mit.edu	37	9	90499849	90499849	+	Silent	SNP	C	C	T	rs148586576		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:90499849C>T	ENST00000325643.5	+	4	513	c.447C>T	c.(445-447)ggC>ggT	p.G149G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	149					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G149G(1)									AGCTCGCTGGCGAAGGCAGCT	0.657																																					p.G149G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T	9						.	C		7,4399		0,7,2196	28.0	29.0	29.0		447	-1.0	0.0	9	dbSNP_134	29	1,8597		0,1,4298	no	coding-synonymous	C9orf79	NM_178828.4		0,8,6494	TT,TC,CC		0.0116,0.1589,0.0615		149/1446	90499849	8,12996	2203	4299	6502	89689669	SO:0001819	synonymous_variant	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.447C>T	9.37:g.90499849C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89689669	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.657	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
SPATA31E1	286234	broad.mit.edu	37	9	90501321	90501321	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:90501321C>A	ENST00000325643.5	+	4	1985	c.1919C>A	c.(1918-1920)tCc>tAc	p.S640Y		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	640					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S640Y(1)									CAGGAGCAGTCCTGTGGCCCT	0.632																																					p.S640Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1919A	9						.						38.0	44.0	42.0					9																	90501321		2203	4300	6503	89691141	SO:0001583	missense	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1919C>A	9.37:g.90501321C>A	ENSP00000322640:p.Ser640Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	89691141	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	3.261	-0.151236	0.06585	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.07021	3.23	1.83	-3.66	0.04489	.	3.609990	0.00735	N	0.000974	T	0.09024	0.0223	N	0.22421	0.69	0.09310	N	1	D;D	0.59767	0.968;0.986	P;P	0.53861	0.526;0.736	T	0.13980	-1.0489	10	0.30854	T	0.27	.	1.0953	0.01672	0.2251:0.3409:0.2748:0.1593	.	640;292	Q6ZUB1;Q8NA33	CI079_HUMAN;.	Y	640;292	ENSP00000322640:S640Y	ENSP00000322640:S640Y	S	+	2	0	C9orf79	89691141	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.963000	0.03837	-2.279000	0.00676	-1.121000	0.02013	TCC		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
SPATA31E1	286234	broad.mit.edu	37	9	90503504	90503504	+	Missense_Mutation	SNP	C	C	T	rs376594685		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:90503504C>T	ENST00000325643.5	+	4	4168	c.4102C>T	c.(4102-4104)Cgt>Tgt	p.R1368C		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1368					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1368C(1)									CCACCAAGAACGTAGCAGAGA	0.597																																					p.R1368C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4102T	9						.	C	CYS/ARG	0,4406		0,0,2203	81.0	71.0	74.0		4102	-0.1	0.0	9		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf79	NM_178828.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1368/1446	90503504	1,13005	2203	4300	6503	89693324	SO:0001583	missense	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4102C>T	9.37:g.90503504C>T	ENSP00000322640:p.Arg1368Cys	Somatic		Capture	Illumina HiSeq	Phase_I	89693324	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	7.953	0.745363	0.15710	0.0	1.16E-4	ENSG00000177992	ENST00000325643	T	0.03580	3.88	2.47	-0.135	0.13477	.	1.651390	0.03689	N	0.246736	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	P	0.41188	0.741	B	0.19666	0.026	T	0.36456	-0.9747	10	0.59425	D	0.04	.	2.9145	0.05748	0.4069:0.4366:0.0:0.1565	.	1368	Q6ZUB1	CI079_HUMAN	C	1368	ENSP00000322640:R1368C	ENSP00000322640:R1368C	R	+	1	0	C9orf79	89693324	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.434000	0.06939	-0.056000	0.13221	-0.140000	0.14226	CGT		0.597	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
RP13-60M5.2	0	broad.mit.edu	37	9	91262406	91262406	+	lincRNA	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:91262406G>A	ENST00000418343.2	-	0	345																											ACTCATATAAGCTCTTCAATA	0.433																																					p.S79S												.	.	0			c.C237T	9						.						130.0	132.0	131.0					9																	91262406		1948	4132	6080	90452226			286238	exon2																															9.37:g.91262406G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90452226	NM_001100111		Silent	SNP	ENST00000418343.2	37																																																																																					0.433	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2		
SECISBP2	79048	broad.mit.edu	37	9	91947815	91947815	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:91947815C>A	ENST00000375807.3	+	6	872				SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000534113.2_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2						translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						aatgtgTTTGCTTTTTAGGGT	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						78.0	74.0	75.0					9																	91947815		2203	4299	6502	91137635	SO:0001627	intron_variant	79048	.			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.802-8C>A	9.37:g.91947815C>A		Somatic		Capture	Illumina HiSeq	Phase_I	91137635	.	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Intron	SNP	ENST00000375807.3	37	CCDS6683.1																																																																																				0.358	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077	
SECISBP2	79048	broad.mit.edu	37	9	91956351	91956351	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:91956351C>T	ENST00000375807.3	+	10	1463	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	SECISBP2_ENST00000339901.4_Silent_p.H391H|SECISBP2_ENST00000534113.2_Silent_p.H396H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	464					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.H464H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAGCAGCACTCTCAGCATG	0.448																																					p.H464H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1392T	9						.						90.0	88.0	89.0					9																	91956351		2203	4300	6503	91146171	SO:0001819	synonymous_variant	79048	exon10			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1392C>T	9.37:g.91956351C>T		Somatic		Capture	Illumina HiSeq	Phase_I	91146171	NM_024077	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	CCDS6683.1																																																																																				0.448	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077	
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547																																					p.I178I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534T	9						.						165.0	148.0	154.0					9																	93375576		2203	4300	6503	92415396	SO:0001819	synonymous_variant	54769	exon2			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.534C>T	9.37:g.93375576G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92415396	NM_017594	B3KVM2	Silent	SNP	ENST00000375765.3	37	CCDS6687.1																																																																																				0.547	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1		
ROR2	4920	broad.mit.edu	37	9	94485932	94485932	+	3'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:94485932C>T	ENST00000375708.3	-	0	3042				ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAACCCCGGGCCCTGGTGCCA	0.627																																					.												.	.	0			.	9						.						31.0	36.0	34.0					9																	94485932		2202	4298	6500	93525753	SO:0001624	3_prime_UTR_variant	4920	.			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.*12G>A	9.37:g.94485932C>T		Somatic		Capture	Illumina HiSeq	Phase_I	93525753	.	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	3'UTR	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																				0.627	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
ROR2	4920	broad.mit.edu	37	9	94486585	94486585	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:94486585C>T	ENST00000375708.3	-	9	2389	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	ROR2_ENST00000375715.1_Missense_Mutation_p.E591K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.E731K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGGAACTCGTTCCAGCAC	0.647																																					p.E731K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2191A	9						.						45.0	44.0	44.0					9																	94486585		2203	4300	6503	93526406	SO:0001583	missense	4920	exon9			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2191G>A	9.37:g.94486585C>T	ENSP00000364860:p.Glu731Lys	Somatic		Capture	Illumina HiSeq	Phase_I	93526406	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711334	0.68730	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.88431	-2.38;-2.38	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000686	D	0.87156	0.6107	N	0.12611	0.24	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.57502	0.663;0.822	D	0.88708	0.3220	10	0.45353	T	0.12	.	17.7513	0.88435	0.0:1.0:0.0:0.0	.	731;591	Q01974;B1APY4	ROR2_HUMAN;.	K	591;731	ENSP00000364867:E591K;ENSP00000364860:E731K	ENSP00000364860:E731K	E	-	1	0	ROR2	93526406	1.000000	0.71417	0.959000	0.39883	0.525000	0.34531	4.626000	0.61269	2.415000	0.81967	0.561000	0.74099	GAG		0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
SPTLC1	10558	broad.mit.edu	37	9	94809461	94809461	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:94809461C>A	ENST00000262554.2	-	11	1079	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	358					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.E358D(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TACCTGGATTCTCTTCCATGA	0.433																																					p.E358D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1074T	9						.						149.0	146.0	147.0					9																	94809461		2203	4300	6503	93849282	SO:0001583	missense	10558	exon11			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1074G>T	9.37:g.94809461C>A	ENSP00000262554:p.Glu358Asp	Somatic		Capture	Illumina HiSeq	Phase_I	93849282	NM_006415	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752711	0.31046	.	.	ENSG00000090054	ENST00000262554	D	0.91237	-2.81	5.35	4.46	0.54185	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.166742	0.56097	D	0.000031	T	0.81898	0.4920	L	0.31065	0.9	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.21151	0.033;0.014	T	0.73310	-0.4023	10	0.25751	T	0.34	-12.8355	4.3322	0.11069	0.1727:0.5951:0.0:0.2322	.	358;358	Q6NUL7;O15269	.;SPTC1_HUMAN	D	358	ENSP00000262554:E358D	ENSP00000262554:E358D	E	-	3	2	SPTLC1	93849282	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.447000	0.21710	1.502000	0.48669	0.650000	0.86243	GAG		0.433	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	
SPTLC1	10558	broad.mit.edu	37	9	94812247	94812247	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:94812247T>G	ENST00000262554.2	-	9	888	c.883A>C	c.(883-885)Atc>Ctc	p.I295L		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	295					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.I295L(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CTTACATTGATTCCATAGTGT	0.398																																					p.I295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A883C	9						.						153.0	139.0	144.0					9																	94812247		2203	4300	6503	93852068	SO:0001583	missense	10558	exon9			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.883A>C	9.37:g.94812247T>G	ENSP00000262554:p.Ile295Leu	Somatic		Capture	Illumina HiSeq	Phase_I	93852068	NM_006415	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667709	0.47677	.	.	ENSG00000090054	ENST00000262554	D	0.88509	-2.39	4.54	4.54	0.55810	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.169113	0.51477	N	0.000094	D	0.85613	0.5737	L	0.45422	1.42	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.23150	0.044;0.042	D	0.83586	0.0120	10	0.72032	D	0.01	-9.7437	14.095	0.65016	0.0:0.0:0.0:1.0	.	295;295	Q6NUL7;O15269	.;SPTC1_HUMAN	L	295	ENSP00000262554:I295L	ENSP00000262554:I295L	I	-	1	0	SPTLC1	93852068	1.000000	0.71417	0.996000	0.52242	0.722000	0.41435	5.690000	0.68241	1.905000	0.55150	0.451000	0.29950	ATC		0.398	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	
IARS	3376	broad.mit.edu	37	9	95051580	95051580	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95051580T>C	ENST00000375643.3	-	2	386				IARS_ENST00000443024.2_Intron|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.?(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAAATTCACATACTTTGGTTT	0.279																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						31.0	31.0	31.0					9																	95051580		2191	4298	6489	94091401	SO:0001627	intron_variant	3376	.			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.119+2A>G	9.37:g.95051580T>C		Somatic		Capture	Illumina HiSeq	Phase_I	94091401	.	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Intron	SNP	ENST00000375643.3	37	CCDS6694.1																																																																																				0.279	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
NOL8	55035	broad.mit.edu	37	9	95080905	95080905	+	Missense_Mutation	SNP	G	G	A	rs186223201		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95080905G>A	ENST00000535387.1	-	5	480	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000542053.1_Missense_Mutation_p.R93C|NOL8_ENST00000358855.4_Missense_Mutation_p.R93C|NOL8_ENST00000442668.2_Missense_Mutation_p.R161C|NOL8_ENST00000545558.1_Missense_Mutation_p.R161C					nucleolar protein 8									p.R161C(1)|p.H161Y(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATATTTTACGTTTATGTTGA	0.303													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18771	0.0		0.0	False		,,,				2504	0.0				p.R161C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C481T	9						.	G	CYS/ARG	0,3656		0,0,1828	110.0	105.0	107.0		481	5.6	0.9	9		107	1,8169		0,1,4084	no	missense	NOL8	NM_017948.5	180	0,1,5912	AA,AG,GG		0.0122,0.0,0.0085	probably-damaging	161/1168	95080905	1,11825	1828	4085	5913	94120726	SO:0001583	missense	55035	exon6			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.481C>T	9.37:g.95080905G>A	ENSP00000441300:p.Arg161Cys	Somatic		Capture	Illumina HiSeq	Phase_I	94120726	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.19|16.19	3.051779|3.051779	0.55218|0.55218	0.0|0.0	1.22E-4|1.22E-4	ENSG00000198000|ENSG00000198000	ENST00000375594|ENST00000442668;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807	.|T;T;T;T;T;T;T;T	.|0.46063	.|2.45;2.48;2.45;2.67;2.48;2.19;0.88;0.88	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.858114|.	0.10356|.	N|.	0.684571|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.34521|0.34521	1.04|1.04	0.32594|0.32594	N|N	0.526761|0.526761	.|D	.|0.62365	.|0.991	.|P	.|0.47528	.|0.549	T|T	0.53634|0.53634	-0.8411|-0.8411	7|9	0.62326|0.87932	D|D	0.03|0	4.2578|4.2578	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.7362:0.2638|0.0:0.0:0.7362:0.2638	.|.	.|161	.|Q76FK4	.|NOL8_HUMAN	Y|C	161|161;93;161;161;93;161;161;161;93;93	.|ENSP00000401177:R161C;ENSP00000351723:R93C;ENSP00000441140:R161C;ENSP00000441300:R161C;ENSP00000440709:R93C;ENSP00000414112:R161C;ENSP00000412471:R161C;ENSP00000390143:R161C	ENSP00000364744:H161Y|ENSP00000351723:R93C	H|R	-|-	1|1	0|0	NOL8|NOL8	94120726|94120726	0.999000|0.999000	0.42202|0.42202	0.898000|0.898000	0.35279|0.35279	0.909000|0.909000	0.53808|0.53808	3.641000|3.641000	0.54360|0.54360	2.802000|2.802000	0.96397|0.96397	0.561000|0.561000	0.74099|0.74099	CAC|CGT		0.303	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
CENPP	401541	broad.mit.edu	37	9	95094497	95094497	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95094497G>A	ENST00000375587.3	+	2	668	c.153G>A	c.(151-153)aaG>aaA	p.K51K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	51					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.K51K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AAGGATGGAAGTCTTCAAAAG	0.328																																					p.K51K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G153A	9						.						71.0	69.0	70.0					9																	95094497		2203	4299	6502	94134318	SO:0001819	synonymous_variant	401541	exon2			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.153G>A	9.37:g.95094497G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94134318	NM_001012267	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Silent	SNP	ENST00000375587.3	37	CCDS35063.1																																																																																				0.328	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267	
ZNF484	83744	broad.mit.edu	37	9	95609788	95609788	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95609788A>G	ENST00000375495.3	-	5	1429	c.1281T>C	c.(1279-1281)ttT>ttC	p.F427F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Silent_p.F391F|ZNF484_ENST00000332591.6_Silent_p.F391F|ZNF484_ENST00000395506.3_Silent_p.F429F	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	427					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)	p.F427F(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CATGTGTGATAAAATGTGACT	0.373																																					p.F391F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1173C	9						.						74.0	76.0	75.0					9																	95609788		2203	4300	6503	94649609	SO:0001819	synonymous_variant	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1281T>C	9.37:g.95609788A>G		Somatic		Capture	Illumina HiSeq	Phase_I	94649609	NM_001007101	B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	CCDS35066.1																																																																																				0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
ZNF484	83744	broad.mit.edu	37	9	95610101	95610101	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95610101T>A	ENST00000375495.3	-	5	1116	c.968A>T	c.(967-969)tAt>tTt	p.Y323F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.Y287F|ZNF484_ENST00000332591.6_Missense_Mutation_p.Y287F|ZNF484_ENST00000395506.3_Missense_Mutation_p.Y325F	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	323					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)	p.Y323F(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATTCCCCTCATAAGGAGTTTT	0.413																																					p.Y287F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A860T	9						.						92.0	90.0	91.0					9																	95610101		2203	4300	6503	94649922	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.968A>T	9.37:g.95610101T>A	ENSP00000364645:p.Tyr323Phe	Somatic		Capture	Illumina HiSeq	Phase_I	94649922	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	1.679	-0.506881	0.04231	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06449	3.3;3.44;3.46;3.3	2.53	0.446	0.16602	.	.	.	.	.	T	0.03608	0.0103	N	0.12502	0.225	0.18873	N	0.999982	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.41197	-0.9522	9	0.72032	D	0.01	.	5.0241	0.14376	0.0:0.1704:0.5272:0.3024	.	325;323	B4DRI2;Q5JVG2	.;ZN484_HUMAN	F	287;325;323;287	ENSP00000378881:Y287F;ENSP00000378882:Y325F;ENSP00000364645:Y323F;ENSP00000364646:Y287F	ENSP00000364646:Y287F	Y	-	2	0	ZNF484	94649922	0.043000	0.20138	0.005000	0.12908	0.039000	0.13416	0.536000	0.23129	0.116000	0.18110	0.509000	0.49947	TAT		0.413	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
ZNF484	83744	broad.mit.edu	37	9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:95610657G>A	ENST00000375495.3	-	5	560	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					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)	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368																																					p.R102C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C304T	9						.						213.0	207.0	209.0					9																	95610657		2203	4300	6503	94650478	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.412C>T	9.37:g.95610657G>A	ENSP00000364645:p.Arg138Cys	Somatic		Capture	Illumina HiSeq	Phase_I	94650478	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.518	-0.311334	0.05422	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.35;3.37;3.23	2.94	2.03	0.26663	.	.	.	.	.	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.332	T	0.36601	-0.9741	9	0.62326	D	0.03	.	5.7179	0.17970	0.1486:0.0:0.8514:0.0	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	102;140;138;102	ENSP00000378881:R102C;ENSP00000378882:R140C;ENSP00000364645:R138C;ENSP00000364646:R102C	ENSP00000364646:R102C	R	-	1	0	ZNF484	94650478	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.546000	0.23284	0.806000	0.34183	0.643000	0.83706	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
FAM120A	23196	broad.mit.edu	37	9	96312866	96312866	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:96312866G>T	ENST00000277165.6	+	12	2361	c.2167G>T	c.(2167-2169)Gtg>Ttg	p.V723L	FAM120A_ENST00000340893.4_Missense_Mutation_p.V723L|FAM120A_ENST00000333936.5_Missense_Mutation_p.V751L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	723						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V723L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTACATGGTGCAGTGGCC	0.567																																					p.V723L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2167T	9						.						84.0	78.0	80.0					9																	96312866		2203	4300	6503	95352687	SO:0001583	missense	23196	exon12			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2167G>T	9.37:g.96312866G>T	ENSP00000277165:p.Val723Leu	Somatic		Capture	Illumina HiSeq	Phase_I	95352687	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147365	0.57151	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	T	0.31702	0.0805	N	0.04203	-0.255	0.42349	D	0.992362	B;B;B	0.15141	0.012;0.001;0.003	B;B;B	0.12156	0.007;0.004;0.003	T	0.11203	-1.0597	10	0.45353	T	0.12	-15.082	20.1379	0.98040	0.0:0.0:1.0:0.0	.	723;751;723	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	L	723;751;723;145	ENSP00000277165:V723L;ENSP00000334918:V751L;ENSP00000344698:V723L;ENSP00000412440:V145L	ENSP00000277165:V723L	V	+	1	0	FAM120A	95352687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.917000	0.56424	2.779000	0.95612	0.655000	0.94253	GTG		0.567	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
FAM120A	23196	broad.mit.edu	37	9	96324500	96324500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:96324500G>T	ENST00000277165.6	+	17	3153	c.2959G>T	c.(2959-2961)Gga>Tga	p.G987*	FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G941*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G1015*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	987	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.G987*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCGTCCAAGAGGAGTTATTTC	0.368																																					p.G987X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2959T	9						.						153.0	133.0	140.0					9																	96324500		2203	4300	6503	95364321	SO:0001587	stop_gained	23196	exon17			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2959G>T	9.37:g.96324500G>T	ENSP00000277165:p.Gly987*	Somatic		Capture	Illumina HiSeq	Phase_I	95364321	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	36	5.656635	0.96724	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.0042	19.7002	0.96049	0.0:0.0:1.0:0.0	.	.	.	.	X	987;1015;941;363	.	ENSP00000277165:G987X	G	+	1	0	FAM120A	95364321	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.528000	0.90598	2.657000	0.90304	0.655000	0.94253	GGA		0.368	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
PTCH1	5727	broad.mit.edu	37	9	98209264	98209264	+	Missense_Mutation	SNP	G	G	A	rs587778630		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:98209264G>A	ENST00000331920.6	-	23	4573	c.4274C>T	c.(4273-4275)tCg>tTg	p.S1425L	PTCH1_ENST00000437951.1_Missense_Mutation_p.S1359L|PTCH1_ENST00000430669.2_Missense_Mutation_p.S1359L|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1274L|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1424L|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1274L|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1274L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1425					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1424L(4)|p.S1425L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTCCACCTTCGAATCCCTCCT	0.627																																					p.S1274L												.	.	6	Substitution - Missense(6)	large_intestine(3)|endometrium(3)	c.C3821T	9						.						108.0	108.0	108.0					9																	98209264		2203	4300	6503	97249085	SO:0001583	missense	5727	exon23			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4274C>T	9.37:g.98209264G>A	ENSP00000332353:p.Ser1425Leu	Somatic		Capture	Illumina HiSeq	Phase_I	97249085	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.834605|2.834605	0.50951|0.50951	.|.	.|.	ENSG00000185920|ENSG00000185920	ENST00000375284|ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	.|D;D;D;D;D;D;D	.|0.89939	.|-2.59;-2.57;-2.55;-2.55;-2.57;-2.55;-2.59	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.187076	.|0.48767	.|D	.|0.000169	.|T	.|0.79793	.|0.4507	N|N	0.24115|0.24115	0.695|0.695	0.51012|0.51012	D|D	0.999908|0.999908	.|P;P;P	.|0.42757	.|0.593;0.789;0.685	.|B;B;B	.|0.27500	.|0.055;0.08;0.036	.|T	.|0.82125	.|-0.0612	.|10	0.02654|0.42905	T|T	1|0.14	-11.1699|-11.1699	18.6101|18.6101	0.91281|0.91281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1359;1424;1425	.|Q13635-3;Q13635-2;Q13635	.|.;.;PTC1_HUMAN	X|L	217|1425;1359;1274;1274;1359;1274;1424	.|ENSP00000332353:S1425L;ENSP00000389744:S1359L;ENSP00000399981:S1274L;ENSP00000396135:S1274L;ENSP00000410287:S1359L;ENSP00000414823:S1274L;ENSP00000364423:S1424L	ENSP00000364433:R217X|ENSP00000332353:S1425L	R|S	-|-	1|2	2|0	PTCH1|PTCH1	97249085|97249085	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.684000|0.684000	0.39900|0.39900	6.317000|6.317000	0.72862|0.72862	2.623000|2.623000	0.88846|0.88846	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.627	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ERCC6L2	375748	broad.mit.edu	37	9	98660173	98660173	+	Missense_Mutation	SNP	C	C	T	rs149385968	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:98660173C>T	ENST00000288985.7	+	3	852	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.R183C(1)									AAAGGGAACTCGTGAGGATAT	0.333													C|||	2	0.000399361	0.0	0.0	5008	,	,		16138	0.0		0.0	False		,,,				2504	0.002				p.R183C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	9						.	C	CYS/ARG	0,4406		0,0,2203	106.0	115.0	112.0		547	4.7	1.0	9	dbSNP_134	112	1,8595	1.2+/-3.3	0,1,4297	yes	missense	C9orf102	NM_001010895.2	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	183/713	98660173	1,13001	2203	4298	6501	97699994	SO:0001583	missense	375748	exon3			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.547C>T	9.37:g.98660173C>T	ENSP00000288985:p.Arg183Cys	Somatic		Capture	Illumina HiSeq	Phase_I	97699994	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421065	0.62622	0.0	1.16E-4	ENSG00000182150	ENST00000288985	D	0.93488	-3.23	4.72	4.72	0.59763	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.52532	D	0.000065	D	0.95872	0.8656	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.95890	0.8906	10	0.54805	T	0.06	-13.8386	17.8774	0.88829	0.0:1.0:0.0:0.0	.	183	Q5T890	RAD26_HUMAN	C	183	ENSP00000288985:R183C	ENSP00000288985:R183C	R	+	1	0	C9orf102	97699994	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	3.262000	0.51538	2.459000	0.83118	0.561000	0.74099	CGT		0.333	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
HABP4	22927	broad.mit.edu	37	9	99250433	99250433	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99250433A>C	ENST00000375249.4	+	7	1137	c.1062A>C	c.(1060-1062)acA>acC	p.T354T	HABP4_ENST00000375251.3_Silent_p.T249T|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.T354T(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				ATGACATCACATCCCAGCTGG	0.527																																					p.T354T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1062C	9						.						149.0	144.0	146.0					9																	99250433		2203	4300	6503	98290254	SO:0001819	synonymous_variant	22927	exon7			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1062A>C	9.37:g.99250433A>C		Somatic		Capture	Illumina HiSeq	Phase_I	98290254	NM_014282		Silent	SNP	ENST00000375249.4	37	CCDS6719.1																																																																																				0.527	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282	
CDC14B	8555	broad.mit.edu	37	9	99327068	99327068	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99327068C>A	ENST00000375241.1	-	3	769	c.318G>T	c.(316-318)aaG>aaT	p.K106N	CDC14B_ENST00000375240.3_Missense_Mutation_p.K106N|CDC14B_ENST00000375236.1_Missense_Mutation_p.K106N|CDC14B_ENST00000265659.2_Missense_Mutation_p.K106N|CDC14B_ENST00000463569.1_Missense_Mutation_p.K106N|CDC14B_ENST00000375242.3_Missense_Mutation_p.K69N	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	106	A.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K106N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCTTTAATTTCTTATTGATCT	0.308																																					p.K106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G318T	9						.						54.0	50.0	52.0					9																	99327068		2200	4297	6497	98366889	SO:0001583	missense	8555	exon3			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.318G>T	9.37:g.99327068C>A	ENSP00000364389:p.Lys106Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98366889	NM_003671	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.483098|2.483098	0.44147|0.44147	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000452280|ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236;ENST00000415608	.|T;T;T;T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34832	.|0.0911	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;B	.|0.41008	.|0.692;0.735;0.201	.|B;B;B	.|0.43445	.|0.42;0.304;0.078	.|T	.|0.18366	.|-1.0339	.|10	.|0.87932	.|D	.|0	-16.4253|-16.4253	7.758|7.758	0.28936|0.28936	0.0:0.8301:0.0:0.1699|0.0:0.8301:0.0:0.1699	.|.	.|106;106;69	.|O60729-2;O60729;A8MQ20	.|.;CC14B_HUMAN;.	X|N	84|106;106;106;69;106;106;90	.|ENSP00000265659:K106N;ENSP00000364389:K106N;ENSP00000364388:K106N;ENSP00000364390:K69N;ENSP00000420572:K106N;ENSP00000364384:K106N;ENSP00000400480:K90N	.|ENSP00000265659:K106N	E|K	-|-	1|3	0|2	CDC14B|CDC14B	98366889|98366889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.800000|1.800000	0.38833|0.38833	2.711000|2.711000	0.92665|0.92665	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.308	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	
ZNF782	158431	broad.mit.edu	37	9	99580728	99580728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99580728C>A	ENST00000481138.1	-	6	2238	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.R394I	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	526					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)	p.R526I(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGTGTGTGTTCTATGATGTTT	0.433																																					p.R526I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577T	9						.						158.0	160.0	159.0					9																	99580728		2203	4300	6503	98620549	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1577G>T	9.37:g.99580728C>A	ENSP00000419397:p.Arg526Ile	Somatic		Capture	Illumina HiSeq	Phase_I	98620549	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.94|15.94	2.981128|2.981128	0.53827|0.53827	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.02446|.	4.29;4.29|.	3.47|3.47	1.54|1.54	0.23209|0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.224877|.	0.22695|.	N|.	0.056780|.	T|.	0.46367|.	0.1389|.	L|L	0.56396|0.56396	1.775|1.775	0.32405|0.32405	N|N	0.551477|0.551477	P|.	0.36712|.	0.566|.	B|.	0.32583|.	0.148|.	T|.	0.53099|.	-0.8486|.	10|.	0.66056|.	D|.	0.02|.	.|.	5.7292|5.7292	0.18030|0.18030	0.1942:0.6957:0.0:0.1101|0.1942:0.6957:0.0:0.1101	.|.	526|.	Q6ZMW2|.	ZN782_HUMAN|.	I|Y	526;394|514	ENSP00000419397:R526I;ENSP00000440624:R394I|.	ENSP00000419397:R526I|.	R|X	-|-	2|3	0|2	ZNF782|ZNF782	98620549|98620549	0.000000|0.000000	0.05858|0.05858	0.916000|0.916000	0.36221|0.36221	0.998000|0.998000	0.95712|0.95712	-0.117000|-0.117000	0.10708|0.10708	0.427000|0.427000	0.26145|0.26145	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	broad.mit.edu	37	9	99581064	99581064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99581064C>T	ENST00000481138.1	-	6	1902	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.R282K	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	414					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)	p.R414K(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CGTGTGAGTTCTCTGATGTTT	0.468																																					p.R414K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1241A	9						.						128.0	125.0	126.0					9																	99581064		2203	4300	6503	98620885	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1241G>A	9.37:g.99581064C>T	ENSP00000419397:p.Arg414Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98620885	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986023	0.53934	.	.	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.18338	2.22;2.22	3.16	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.282378	0.19793	N	0.105925	T	0.11623	0.0283	N	0.25245	0.725	0.22171	N	0.999318	B	0.25105	0.118	B	0.33620	0.167	T	0.28586	-1.0039	10	0.38643	T	0.18	.	7.0253	0.24936	0.1959:0.6136:0.1905:0.0	.	414	Q6ZMW2	ZN782_HUMAN	K	414;282	ENSP00000419397:R414K;ENSP00000440624:R282K	ENSP00000419397:R414K	R	-	2	0	ZNF782	98620885	0.000000	0.05858	0.852000	0.33557	0.998000	0.95712	-0.068000	0.11561	0.285000	0.22329	0.655000	0.94253	AGA		0.468	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	broad.mit.edu	37	9	99581565	99581565	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99581565T>G	ENST00000481138.1	-	6	1401	c.740A>C	c.(739-741)aAa>aCa	p.K247T	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.K115T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	247					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)	p.K247T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTCCCCAAATTTATTGAAATT	0.313																																					p.K247T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A740C	9						.						71.0	77.0	75.0					9																	99581565		2203	4299	6502	98621386	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.740A>C	9.37:g.99581565T>G	ENSP00000419397:p.Lys247Thr	Somatic		Capture	Illumina HiSeq	Phase_I	98621386	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.55|11.55	1.672338|1.672338	0.29693|0.29693	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.07327|.	3.35;3.2|.	3.33|3.33	-1.92|-1.92	0.07618|0.07618	.|.	0.703630|.	0.11680|.	N|.	0.539899|.	T|.	0.20414|.	0.0491|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|.	0.25572|.	-1.0128|.	10|.	0.72032|.	D|.	0.01|.	.|.	0.7445|0.7445	0.00979|0.00979	0.1631:0.2091:0.1678:0.4601|0.1631:0.2091:0.1678:0.4601	.|.	247|.	Q6ZMW2|.	ZN782_HUMAN|.	T|Y	247;115|235	ENSP00000419397:K247T;ENSP00000440624:K115T|.	ENSP00000419397:K247T|.	K|X	-|-	2|3	0|2	ZNF782|ZNF782	98621386|98621386	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.448000|0.448000	0.32197|0.32197	0.120000|0.120000	0.15647|0.15647	-0.389000|-0.389000	0.07786|0.07786	0.529000|0.529000	0.55759|0.55759	AAA|TAA		0.313	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	broad.mit.edu	37	9	99581956	99581956	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99581956T>G	ENST00000481138.1	-	6	1010	c.349A>C	c.(349-351)Att>Ctt	p.I117L	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	117					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)	p.I117L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCCTGAAATTTCTTGCTCT	0.408																																					p.I117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A349C	9						.						90.0	91.0	91.0					9																	99581956		2203	4300	6503	98621777	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.349A>C	9.37:g.99581956T>G	ENSP00000419397:p.Ile117Leu	Somatic		Capture	Illumina HiSeq	Phase_I	98621777	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.933|9.933	1.215427|1.215427	0.22373|0.22373	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000478850|ENST00000289032	T;T|.	0.04758|.	3.56;5.93|.	3.38|3.38	3.38|3.38	0.38709|0.38709	.|.	0.482237|.	0.15327|.	N|.	0.268222|.	T|T	0.42966|0.42966	0.1226|0.1226	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.32302|.	0.363|.	B|.	0.25291|.	0.059|.	T|T	0.22941|0.22941	-1.0202|-1.0202	10|5	0.19147|.	T|.	0.46|.	.|.	10.4629|10.4629	0.44590|0.44590	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	117|.	Q6ZMW2|.	ZN782_HUMAN|.	L|T	117|105	ENSP00000419397:I117L;ENSP00000417577:I117L|.	ENSP00000417577:I117L|.	I|N	-|-	1|2	0|0	ZNF782|ZNF782	98621777|98621777	0.033000|0.033000	0.19621|0.19621	0.406000|0.406000	0.26421|0.26421	0.471000|0.471000	0.32888|0.32888	0.640000|0.640000	0.24705|0.24705	1.788000|1.788000	0.52465|0.52465	0.529000|0.529000	0.55759|0.55759	ATT|AAT		0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
CTSV	1515	broad.mit.edu	37	9	99797984	99797984	+	Intron	SNP	G	G	A	rs565632647		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99797984G>A	ENST00000259470.5	-	6	871				CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Intron	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.?(1)									TCCTTTTAAAGTTAAAGGGGG	0.438													.|||	1	0.000199681	0.0	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.001				.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						43.0	40.0	41.0					9																	99797984		2203	4300	6503	98837805	SO:0001627	intron_variant	1515	.			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.622-9C>T	9.37:g.99797984G>A		Somatic		Capture	Illumina HiSeq	Phase_I	98837805	.	O60233|Q2TB86|Q5T1U0	Intron	SNP	ENST00000259470.5	37	CCDS6723.1																																																																																				0.438	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
RP11-498P14.3	0	broad.mit.edu	37	9	99961405	99961405	+	lincRNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:99961405T>C	ENST00000416066.1	-	0	0																		p.D130G(1)									GCCACAAATGTCACATGTATA	0.403																																					p.D130G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A389G	9						.						56.0	61.0	59.0					9																	99961405		2196	4288	6484	99001226			387328	exon1																															9.37:g.99961405T>C		Somatic		Capture	Illumina HiSeq	Phase_I	99001226	NM_199005		Missense_Mutation	SNP	ENST00000416066.1	37		.	.	.	.	.	.	.	.	.	.	N	2.981	-0.210272	0.06140	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000536	T	0.57431	0.2053	.	.	.	0.30099	N	0.8075749999999999	D	0.69078	0.997	D	0.77004	0.989	T	0.60469	-0.7257	5	.	.	.	-14.08	2.8176	0.05461	3.0E-4:3.0E-4:0.4997:0.4997	.	130	Q5SYY0	Z322B_HUMAN	G	130	.	.	D	-	2	0	ZNF322P1	99001226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.822000	0.01711	0.000000	0.14550	0.000000	0.15137	GAC		0.403	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1		
CCDC180	100499483	broad.mit.edu	37	9	100128909	100128909	+	Silent	SNP	C	C	T	rs575555258		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:100128909C>T	ENST00000357054.1	+	43	5018	c.4083C>T	c.(4081-4083)tgC>tgT	p.C1361C	RP11-23J9.4_ENST00000534123.1_RNA|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000529487.1_Silent_p.C1416C|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Silent_p.C1416C			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1361						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.C1361C(1)									TTGACCAGTGCGCCGAGAACA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20527	0.0		0.0	False		,,,				2504	0.001				p.C1416C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4248T	9						.						108.0	90.0	96.0					9																	100128909		2203	4300	6503	99168730	SO:0001819	synonymous_variant	57653	exon31			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4083C>T	9.37:g.100128909C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99168730	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																					0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
TDRD7	23424	broad.mit.edu	37	9	100257990	100257990	+	Missense_Mutation	SNP	G	G	A	rs377340161		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:100257990G>A	ENST00000355295.4	+	17	3417	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q	TDRD7_ENST00000422139.2_Missense_Mutation_p.R967Q|TDRD7_ENST00000540902.1_Missense_Mutation_p.R361Q	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1041	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.R1041Q(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATGGTGTTTCGAAATCATGTG	0.488																																					p.R1041Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3122A	9						.	G	GLN/ARG	0,4406		0,0,2203	148.0	152.0	151.0		3122	5.2	1.0	9		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	TDRD7	NM_014290.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1041/1099	100257990	1,13005	2203	4300	6503	99297811	SO:0001583	missense	23424	exon17			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.3122G>A	9.37:g.100257990G>A	ENSP00000347444:p.Arg1041Gln	Somatic		Capture	Illumina HiSeq	Phase_I	99297811	NM_014290	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298941	0.95574	0.0	1.16E-4	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.23147	2.67;2.67;1.92	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.21895	-1.0232	10	0.33141	T	0.24	-13.4499	18.1632	0.89716	0.0:0.0:1.0:0.0	.	361;1041	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	Q	1041;967;361	ENSP00000347444:R1041Q;ENSP00000413608:R967Q;ENSP00000440717:R361Q	ENSP00000347444:R1041Q	R	+	2	0	TDRD7	99297811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.809000	0.96659	0.557000	0.71058	CGA		0.488	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
NCBP1	4686	broad.mit.edu	37	9	100403139	100403139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:100403139C>T	ENST00000375147.3	+	2	354	c.98C>T	c.(97-99)tCt>tTt	p.S33F		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.S33F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATTTGGAATCTTTAATATGT	0.358																																					p.S33F	Ovarian(36;879 898 2893 44212 50307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C98T	9						.						80.0	83.0	82.0					9																	100403139		2203	4300	6503	99442960	SO:0001583	missense	4686	exon2			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.98C>T	9.37:g.100403139C>T	ENSP00000364289:p.Ser33Phe	Somatic		Capture	Illumina HiSeq	Phase_I	99442960	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688739	0.88639	.	.	ENSG00000136937	ENST00000375147	T	0.25912	1.77	5.13	5.13	0.70059	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.86953	2.85	0.80722	D	1	D	0.59767	0.986	D	0.66497	0.944	T	0.62632	-0.6813	10	0.52906	T	0.07	-19.3725	18.5603	0.91097	0.0:1.0:0.0:0.0	.	33	Q09161	NCBP1_HUMAN	F	33	ENSP00000364289:S33F	ENSP00000364289:S33F	S	+	2	0	NCBP1	99442960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.203000	0.65174	2.573000	0.86826	0.555000	0.69702	TCT		0.358	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
CORO2A	7464	broad.mit.edu	37	9	100888881	100888881	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:100888881T>C	ENST00000343933.5	-	11	1653	c.1396A>G	c.(1396-1398)Aca>Gca	p.T466A	CORO2A_ENST00000375077.4_Missense_Mutation_p.T466A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	466					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.T466A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGCCATTTGTCAGCCAGGTT	0.572																																					p.T466A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1396G	9						.						138.0	143.0	141.0					9																	100888881		2203	4300	6503	99928702	SO:0001583	missense	7464	exon11			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1396A>G	9.37:g.100888881T>C	ENSP00000343746:p.Thr466Ala	Somatic		Capture	Illumina HiSeq	Phase_I	99928702	NM_052820	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899632	0.33535	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72615	-0.67;-0.67	5.42	-0.251	0.13003	.	0.832011	0.11073	N	0.602719	T	0.53834	0.1821	L	0.42245	1.32	0.27852	N	0.940696	B;B	0.19706	0.038;0.038	B;B	0.22601	0.04;0.04	T	0.40478	-0.9561	10	0.07644	T	0.81	-3.3171	5.4239	0.16415	0.5708:0.0891:0.0:0.3401	.	466;466	Q92828;A8K9S3	COR2A_HUMAN;.	A	466	ENSP00000343746:T466A;ENSP00000364218:T466A	ENSP00000343746:T466A	T	-	1	0	CORO2A	99928702	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	0.031000	0.13710	0.034000	0.15491	0.459000	0.35465	ACA		0.572	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389	
CORO2A	7464	broad.mit.edu	37	9	100919823	100919823	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:100919823G>T	ENST00000343933.5	-	2	377	c.120C>A	c.(118-120)ttC>ttA	p.F40L	CORO2A_ENST00000375077.4_Missense_Mutation_p.F40L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	40					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.F40L(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCACGGCACAGAAGTGGTTGT	0.592																																					p.F40L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C120A	9						.						106.0	86.0	93.0					9																	100919823		2203	4300	6503	99959644	SO:0001583	missense	7464	exon2			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.120C>A	9.37:g.100919823G>T	ENSP00000343746:p.Phe40Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99959644	NM_052820	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169645	0.94768	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.71817	-0.6;-0.6	5.81	5.81	0.92471	WD40 repeat-like-containing domain (1);Domain of unknown function DUF1899 (1);	0.042369	0.85682	D	0.000000	T	0.67306	0.2879	L	0.33485	1.01	0.80722	D	1	B;P	0.41848	0.333;0.763	B;P	0.44921	0.267;0.464	T	0.63093	-0.6714	10	0.27082	T	0.32	-38.5675	18.8412	0.92184	0.0:0.0:1.0:0.0	.	69;40	Q59EK2;Q92828	.;COR2A_HUMAN	L	40	ENSP00000343746:F40L;ENSP00000364218:F40L	ENSP00000343746:F40L	F	-	3	2	CORO2A	99959644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.650000	0.86243	TTC		0.592	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389	
ANKS6	203286	broad.mit.edu	37	9	101547107	101547107	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101547107C>T	ENST00000353234.4	-	3	955				ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Intron|ANKS6_ENST00000540940.1_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6							cilium (GO:0005929)|cytoplasm (GO:0005737)		p.?(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTTCTAAAGCGCTTACCCAT	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						89.0	87.0	88.0					9																	101547107		1803	4066	5869	100586928	SO:0001627	intron_variant	203286	.			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.907+6G>A	9.37:g.101547107C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100586928	.	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Intron	SNP	ENST00000353234.4	37	CCDS43856.1																																																																																				0.363	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
COL15A1	1306	broad.mit.edu	37	9	101767172	101767172	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:101767172C>A	ENST00000375001.3	+	9	1623					NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTTGACTTTCTATTCAGGGT	0.577																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						141.0	131.0	135.0					9																	101767172		2203	4300	6503	100806993	SO:0001627	intron_variant	1306	.			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1201-8C>A	9.37:g.101767172C>A		Somatic		Capture	Illumina HiSeq	Phase_I	100806993	.	Q5T6J4|Q9UDC5|Q9Y4W4	Intron	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
RNF20	56254	broad.mit.edu	37	9	104309099	104309099	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:104309099T>C	ENST00000389120.3	+	7	837				AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase						histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CTTTGGGATGTAGTTCTCCAA	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						129.0	129.0	129.0					9																	104309099		2203	4300	6503	103348920	SO:0001627	intron_variant	56254	.			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.748-3T>C	9.37:g.104309099T>C		Somatic		Capture	Illumina HiSeq	Phase_I	103348920	.	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Intron	SNP	ENST00000389120.3	37	CCDS35084.1																																																																																				0.383	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
NIPSNAP3B	55335	broad.mit.edu	37	9	107531310	107531310	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:107531310C>A	ENST00000374762.3	+	3	501				NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)									p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AAGGTGAGTTCTTCCCTCTTA	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						56.0	55.0	56.0					9																	107531310		2203	4300	6503	106571131	SO:0001627	intron_variant	55335	.			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.430+8C>A	9.37:g.107531310C>A		Somatic		Capture	Illumina HiSeq	Phase_I	106571131	.	Q5VX30|Q9NUM2	Intron	SNP	ENST00000374762.3	37	CCDS6761.1																																																																																				0.308	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376	
FRRS1L	23732	broad.mit.edu	37	9	111909478	111909478	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:111909478G>T	ENST00000561981.2	-	3	476					NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like							cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.?(1)									ATCTAGAAGAGATATCGAAAG	0.403																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						109.0	101.0	103.0					9																	111909478		2203	4300	6503	110949299	SO:0001627	intron_variant	23732	.			AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.477-9C>A	9.37:g.111909478G>T		Somatic		Capture	Illumina HiSeq	Phase_I	110949299	.	Q5T4G4	Intron	SNP	ENST00000561981.2	37	CCDS35098.1																																																																																				0.403	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334	
MUSK	4593	broad.mit.edu	37	9	113538247	113538247	+	Intron	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:113538247A>G	ENST00000374448.4	+	10	1494				MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Intron|MUSK_ENST00000416899.2_Intron	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATCTAGGTAACACAGAGTTC	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						126.0	122.0	123.0					9																	113538247		1888	4117	6005	112578068	SO:0001627	intron_variant	4593	.			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1360+4A>G	9.37:g.113538247A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112578068	.	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Intron	SNP	ENST00000374448.4	37	CCDS48005.1																																																																																				0.443	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
C9orf84	158401	broad.mit.edu	37	9	114467655	114467655	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114467655G>T	ENST00000318737.4	-	19	2674				C9orf84_ENST00000374287.3_Intron|C9orf84_ENST00000394777.4_Intron|C9orf84_ENST00000394779.3_Intron	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84											breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAAATAAGAGAAAATTTATA	0.294																																					.												.	.	0			.	9						.						25.0	27.0	27.0					9																	114467655		2192	4292	6484	113507476	SO:0001627	intron_variant	158401	.			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2546-11C>A	9.37:g.114467655G>T		Somatic		Capture	Illumina HiSeq	Phase_I	113507476	.	A2A2V3|Q2M1H8|Q96M73	Intron	SNP	ENST00000318737.4	37	CCDS6781.3																																																																																				0.294	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
C9orf84	158401	broad.mit.edu	37	9	114510487	114510487	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114510487G>T	ENST00000318737.4	-	7	799				C9orf84_ENST00000374287.3_Intron|C9orf84_ENST00000394777.4_Intron|C9orf84_ENST00000394779.3_Intron|C9orf84_ENST00000374283.5_Intron	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84									p.?(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATCTGAAAAGGAAGAAACTC	0.333																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	9						.						87.0	86.0	86.0					9																	114510487		2203	4300	6503	113550308	SO:0001627	intron_variant	158401	.			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.671-8C>A	9.37:g.114510487G>T		Somatic		Capture	Illumina HiSeq	Phase_I	113550308	.	A2A2V3|Q2M1H8|Q96M73	Intron	SNP	ENST00000318737.4	37	CCDS6781.3																																																																																				0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
PTBP3	9991	broad.mit.edu	37	9	114997093	114997093	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:114997093G>T	ENST00000374255.2	-	9	1112				PTBP3_ENST00000458258.1_Intron|PTBP3_ENST00000343327.2_Intron|PTBP3_ENST00000374257.1_Intron|PTBP3_ENST00000334318.6_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)									CAACTTAAAAGAATCACCTGT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						48.0	50.0	49.0					9																	114997093		2203	4300	6503	114036914	SO:0001627	intron_variant	9991	.			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.964+6C>A	9.37:g.114997093G>T		Somatic		Capture	Illumina HiSeq	Phase_I	114036914	.	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Intron	SNP	ENST00000374255.2	37	CCDS6784.1																																																																																				0.368	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
C9orf91	203197	broad.mit.edu	37	9	117379586	117379586	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:117379586G>T	ENST00000288502.4	+	2	543				C9orf91_ENST00000374049.4_Intron|C9orf91_ENST00000471206.1_Intron|AL160275.1_ENST00000606438.1_RNA|Y_RNA_ENST00000364879.1_RNA			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91							integral component of membrane (GO:0016021)		p.?(1)		endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GGCAAGGTAAGATCATGACCT	0.587																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						24.0	27.0	26.0					9																	117379586		2203	4300	6503	116419407	SO:0001627	intron_variant	203197	.			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.106+5G>T	9.37:g.117379586G>T		Somatic		Capture	Illumina HiSeq	Phase_I	116419407	.	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Intron	SNP	ENST00000288502.4	37	CCDS6808.1																																																																																				0.587	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045	
RC3H2	54542	broad.mit.edu	37	9	125618002	125618002	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125618002A>C	ENST00000373670.1	-	13	3202				RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000423239.2_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCCCAGCAAAATCATACCA	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						104.0	100.0	101.0					9																	125618002		1961	4160	6121	124657823	SO:0001627	intron_variant	54542	.			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2601+8T>G	9.37:g.125618002A>C		Somatic		Capture	Illumina HiSeq	Phase_I	124657823	.	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Intron	SNP	ENST00000373670.1	37	CCDS43874.1																																																																																				0.408	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
RC3H2	54542	broad.mit.edu	37	9	125642543	125642543	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125642543A>C	ENST00000373670.1	-	6	1561				RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000335387.5_Intron|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000373665.2_Intron|RC3H2_ENST00000423239.2_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGATGAATTAAATTTTCACCT	0.294																																					.												.	.	0			.	9						.						74.0	70.0	71.0					9																	125642543		876	1991	2867	124682364	SO:0001627	intron_variant	54542	.			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.961-139T>G	9.37:g.125642543A>C		Somatic		Capture	Illumina HiSeq	Phase_I	124682364	.	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	RNA	SNP	ENST00000373670.1	37	CCDS43874.1																																																																																				0.294	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
STRBP	55342	broad.mit.edu	37	9	125935949	125935949	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:125935949T>C	ENST00000348403.5	-	5	820				STRBP_ENST00000447404.2_Intron|STRBP_ENST00000360998.3_Intron	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AGTTAAACTGTACTCACCTGA	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						144.0	134.0	137.0					9																	125935949		2203	4300	6503	124975770	SO:0001627	intron_variant	55342	.			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.390+6A>G	9.37:g.125935949T>C		Somatic		Capture	Illumina HiSeq	Phase_I	124975770	.	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Intron	SNP	ENST00000348403.5	37	CCDS6851.1																																																																																				0.358	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
PBX3	5090	broad.mit.edu	37	9	128725382	128725382	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:128725382T>G	ENST00000373489.5	+	8	1228		c.e8+2		PBX3_ENST00000538998.1_Splice_Site|PBX3_ENST00000373483.2_Splice_Site|PBX3_ENST00000447726.2_Splice_Site|PBX3_ENST00000373487.4_Splice_Site|PBX3_ENST00000342287.5_Splice_Site	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3						adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AATTTAAATGTGAGTACTCTG	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						79.0	73.0	75.0					9																	128725382		2203	4300	6503	127765203	SO:0001630	splice_region_variant	5090	.				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1212+2T>G	9.37:g.128725382T>G		Somatic		Capture	Illumina HiSeq	Phase_I	127765203	.	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Splice_Site	SNP	ENST00000373489.5	37	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495636	0.64186	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	.	.	.	6.16	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3011	0.54874	0.0:0.0655:0.0:0.9345	.	.	.	.	.	-1	.	.	.	+	.	.	PBX3	127765203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	1.152000	0.42452	0.528000	0.53228	.		0.438	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1		Intron
CACNA1B	774	broad.mit.edu	37	9	140968066	140968066	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:140968066G>A	ENST00000371372.1	+	33	4936				CACNA1B_ENST00000371365.2_5'Flank|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGGGCCAGGCGGGGGGCCT	0.647																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	9						.						42.0	46.0	44.0					9																	140968066		2029	4182	6211	140087887	SO:0001627	intron_variant	774	.			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4791+10G>A	9.37:g.140968066G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140087887	.	B1AQK5	Intron	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CACNA1B	774	broad.mit.edu	37	9	140997167	140997167	+	Missense_Mutation	SNP	C	C	T	rs370345897		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr9:140997167C>T	ENST00000371372.1	+	38	5372	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	CACNA1B_ENST00000371365.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1744C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1742C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R937C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1743C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1741C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1743	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.R1743C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCAGTGGGCGCATCAGTTA	0.627																																					p.R1743C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5227T	9						.	C	CYS/ARG	1,3877		0,1,1938	49.0	54.0	52.0		5227	4.7	1.0	9		52	0,8240		0,0,4120	no	missense	CACNA1B	NM_000718.3	180	0,1,6058	TT,TC,CC		0.0,0.0258,0.0083	probably-damaging	1743/2340	140997167	1,12117	1939	4120	6059	140116988	SO:0001583	missense	774	exon37			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5227C>T	9.37:g.140997167C>T	ENSP00000360423:p.Arg1743Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140116988	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533162	0.64972	2.58E-4	0.0	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97598	-4.2;-4.2;-4.45;-4.19;-4.17;-4.19	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	D	0.99719	1.1009	10	0.72032	D	0.01	.	17.6591	0.88187	0.0:1.0:0.0:0.0	.	1742;1741	B1AQK7;B1AQK6	.;.	C	1743;1743;937;1741;1742;1744	ENSP00000360423:R1743C;ENSP00000277551:R1743C;ENSP00000277549:R937C;ENSP00000360414:R1741C;ENSP00000360408:R1742C;ENSP00000360406:R1744C	ENSP00000277549:R937C	R	+	1	0	CACNA1B	140116988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.943000	0.70211	2.159000	0.67721	0.555000	0.69702	CGC		0.627	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
PCDH11X	27328	broad.mit.edu	37	X	91132615	91132615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:91132615delA	ENST00000373094.1	+	2	2221	c.1376delA	c.(1375-1377)gaafs	p.E459fs	PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000504220.2_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.E459fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.E459fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N460fs*12(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAAAGATGAAAATGACAAT	0.403																																					p.E459fs	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1376delA	X						.						55.0	50.0	52.0					X																	91132615		2202	4280	6482	91019271	SO:0001589	frameshift_variant	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1376delA	X.37:g.91132615delA	ENSP00000362186:p.Glu459fs	Somatic		Capture	Illumina HiSeq	Phase_I	91019271	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Frame_Shift_Del	DEL	ENST00000373094.1	37	CCDS14461.1																																																																																				0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
TAF7L	54457	broad.mit.edu	37	X	100531346	100531346	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:100531346C>T	ENST00000372907.3	-	10	1131	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	TAF7L_ENST00000356784.1_Missense_Mutation_p.E288K|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	374	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.E374K(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCAATAAACTCGGCCTGCAGC	0.463																																					p.E374K	Ovarian(104;431 1530 3210 15406 18594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1120A	X						.						178.0	139.0	153.0					X																	100531346		2203	4300	6503	100418002	SO:0001583	missense	54457	exon10			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1120G>A	X.37:g.100531346C>T	ENSP00000361998:p.Glu374Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100418002	NM_024885	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.212248	0.00289	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.21734	2.59;1.99	4.22	3.04	0.35103	.	0.554014	0.16260	N	0.222261	T	0.03783	0.0107	N	0.00182	-1.905	0.22366	N	0.999161	B	0.02656	0.0	B	0.01281	0.0	T	0.39981	-0.9587	10	0.02654	T	1	-7.3409	8.3886	0.32516	0.0:0.0957:0.0:0.9043	.	374	Q5H9L4	TAF7L_HUMAN	K	374;288	ENSP00000361998:E374K;ENSP00000349235:E288K	ENSP00000349235:E288K	E	-	1	0	TAF7L	100418002	0.018000	0.18449	0.003000	0.11579	0.048000	0.14542	0.962000	0.29280	0.551000	0.29008	-0.668000	0.03835	GAG		0.463	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
TAF7L	54457	broad.mit.edu	37	X	100542485	100542485	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:100542485A>C	ENST00000372907.3	-	2	316	c.305T>G	c.(304-306)tTt>tGt	p.F102C	TAF7L_ENST00000356784.1_Missense_Mutation_p.F16C|TAF7L_ENST00000372905.2_Missense_Mutation_p.F16C|Y_RNA_ENST00000410271.1_RNA|TAF7L_ENST00000324762.6_Missense_Mutation_p.F16C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	102					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.F102C(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACGCAATATAAACTGGTTCTC	0.328																																					p.F102C	Ovarian(104;431 1530 3210 15406 18594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T305G	X						.						88.0	74.0	79.0					X																	100542485		2203	4300	6503	100429141	SO:0001583	missense	54457	exon2			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.305T>G	X.37:g.100542485A>C	ENSP00000361998:p.Phe102Cys	Somatic		Capture	Illumina HiSeq	Phase_I	100429141	NM_024885	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135433	0.56828	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.36340	1.75;1.37;1.37;1.26	5.06	3.82	0.43975	TAFII55 protein, conserved region (1);	0.000000	0.44483	D	0.000441	T	0.58163	0.2103	M	0.81682	2.555	0.43255	D	0.995189	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.62581	-0.6824	10	0.87932	D	0	-15.7825	9.1187	0.36773	0.8343:0.0:0.0:0.1657	.	102;16	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	102;16;16;16	ENSP00000361998:F102C;ENSP00000361996:F16C;ENSP00000320283:F16C;ENSP00000349235:F16C	ENSP00000320283:F16C	F	-	2	0	TAF7L	100429141	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.454000	0.60068	1.689000	0.51079	0.381000	0.24937	TTT		0.328	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
GPRASP1	9737	broad.mit.edu	37	X	101910435	101910435	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:101910435T>C	ENST00000361600.5	+	5	2395	c.1594T>C	c.(1594-1596)Tct>Cct	p.S532P	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S532P|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S532P|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S532P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	532	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S532P(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGTGGAATCTGGTGTTGG	0.527																																					p.S532P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1594C	X						.						137.0	125.0	129.0					X																	101910435		2203	4300	6503	101797091	SO:0001583	missense	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1594T>C	X.37:g.101910435T>C	ENSP00000355146:p.Ser532Pro	Somatic		Capture	Illumina HiSeq	Phase_I	101797091	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	7.565	0.665584	0.14710	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	2.75	-0.642	0.11486	.	.	.	.	.	T	0.05090	0.0136	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.35413	0.202	T	0.38887	-0.9640	9	0.24483	T	0.36	-1.6698	5.1847	0.15178	0.0:0.147:0.3701:0.4829	.	532	Q5JY77	GASP1_HUMAN	P	532	ENSP00000393691:S532P;ENSP00000409420:S532P;ENSP00000355146:S532P;ENSP00000445683:S532P	ENSP00000355146:S532P	S	+	1	0	GPRASP1	101797091	0.034000	0.19679	0.000000	0.03702	0.142000	0.21351	0.131000	0.15870	-0.256000	0.09473	0.422000	0.28245	TCT		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
GPRASP1	9737	broad.mit.edu	37	X	101912651	101912651	+	Nonsense_Mutation	SNP	T	T	G	rs370477640		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:101912651T>G	ENST00000361600.5	+	5	4611	c.3810T>G	c.(3808-3810)taT>taG	p.Y1270*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Y1270*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Y1270*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.Y1270*	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1270	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.Y1270*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTACTGACTATCACACACTGG	0.403																																					p.Y1270X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T3810G	X						.						103.0	83.0	90.0					X																	101912651		2203	4300	6503	101799307	SO:0001587	stop_gained	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3810T>G	X.37:g.101912651T>G	ENSP00000355146:p.Tyr1270*	Somatic		Capture	Illumina HiSeq	Phase_I	101799307	NM_001099411	O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	47	13.682442	0.99757	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.9	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2229	4.1879	0.10407	0.0:0.1711:0.0:0.8289	.	.	.	.	X	1270	.	ENSP00000355146:Y1270X	Y	+	3	2	GPRASP1	101799307	0.995000	0.38212	0.886000	0.34754	0.970000	0.65996	0.180000	0.16860	0.388000	0.25054	0.376000	0.23039	TAT		0.403	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
TCEAL4	79921	broad.mit.edu	37	X	102841769	102841769	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:102841769G>A	ENST00000472745.1	+	3	718	c.166G>A	c.(166-168)Gag>Aag	p.E56K	TCEAL4_ENST00000415568.2_Missense_Mutation_p.E56K|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E56K|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E199K|TCEAL4_ENST00000494801.1_Missense_Mutation_p.E56K|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E56K			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	56	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E199K(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						aacaggagatgaggaaatgtt	0.458																																					p.E56K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166A	X						.						79.0	83.0	81.0					X																	102841769		2193	4285	6478	102728425	SO:0001583	missense	79921	exon3			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.166G>A	X.37:g.102841769G>A	ENSP00000424314:p.Glu56Lys	Somatic		Capture	Illumina HiSeq	Phase_I	102728425	NM_024863	Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263128	0.59431	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000490644;ENST00000459722;ENST00000472745;ENST00000494801;ENST00000425011;ENST00000469586	T;T;T;T;T;T;T;T;T;T	0.64260	1.57;2.79;2.79;2.79;0.77;0.61;2.79;2.79;-0.09;1.61	3.88	-0.0395	0.13875	.	1.094360	0.07164	N	0.851243	T	0.50752	0.1634	L	0.48642	1.525	0.09310	N	0.999999	B	0.15930	0.015	B	0.20767	0.031	T	0.35126	-0.9801	10	0.30854	T	0.27	.	4.1834	0.10387	0.2286:0.3688:0.4025:0.0	.	56	Q96EI5	TCAL4_HUMAN	K	199;56;56;56;56;56;56;56;56;56;56	ENSP00000361712:E199K;ENSP00000421857:E56K;ENSP00000421156:E56K;ENSP00000415564:E56K;ENSP00000425883:E56K;ENSP00000423723:E56K;ENSP00000424314:E56K;ENSP00000427494:E56K;ENSP00000394029:E56K;ENSP00000427053:E56K	ENSP00000361712:E199K	E	+	1	0	TCEAL4	102728425	0.988000	0.35896	0.045000	0.18777	0.809000	0.45718	0.469000	0.22067	-0.115000	0.11915	0.526000	0.51066	GAG		0.458	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863	
NRK	203447	broad.mit.edu	37	X	105125725	105125725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:105125725C>T	ENST00000243300.9	+	4	508	c.205C>T	c.(205-207)Cga>Tga	p.R69*	NRK_ENST00000428173.2_Nonsense_Mutation_p.R69*|NRK_ENST00000536164.1_Nonsense_Mutation_p.R69*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R69*(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATAGGAAGGCGAGTGAGAGT	0.333										HNSCC(51;0.14)																											p.R69X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C205T	X						.						79.0	67.0	71.0					X																	105125725		1803	4021	5824	105012381	SO:0001587	stop_gained	203447	exon4			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.205C>T	X.37:g.105125725C>T	ENSP00000434830:p.Arg69*	Somatic		Capture	Illumina HiSeq	Phase_I	105012381	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	35	5.457076	0.96223	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	.	.	.	3.97	2.14	0.27477	.	0.000000	0.32002	N	0.006739	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.207	0.31461	0.4329:0.5671:0.0:0.0	.	.	.	.	X	69	.	ENSP00000434830:R69X	R	+	1	2	NRK	105012381	0.287000	0.24315	0.750000	0.31169	0.987000	0.75469	0.065000	0.14466	0.278000	0.22164	-0.293000	0.09583	CGA		0.333	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	broad.mit.edu	37	X	105167144	105167144	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:105167144C>T	ENST00000243300.9	+	18	2948	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	NRK_ENST00000428173.2_Missense_Mutation_p.P883L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	882					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P882P(1)|p.P883L(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAAATATCACCCCCTGTATAC	0.408										HNSCC(51;0.14)																											p.P882L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C2645T	X						.						132.0	121.0	125.0					X																	105167144		1868	4099	5967	105053800	SO:0001583	missense	203447	exon18			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2645C>T	X.37:g.105167144C>T	ENSP00000434830:p.Pro882Leu	Somatic		Capture	Illumina HiSeq	Phase_I	105053800	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	18.12	3.552699	0.65425	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78595	-1.18;-1.19	3.94	3.94	0.45596	.	0.000000	0.38663	N	0.001604	T	0.77452	0.4132	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.79995	-0.1568	10	0.87932	D	0	.	10.5466	0.45064	0.0:1.0:0.0:0.0	.	550;882	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	882;883	ENSP00000434830:P882L;ENSP00000438378:P883L	ENSP00000434830:P882L	P	+	2	0	NRK	105053800	0.996000	0.38824	0.998000	0.56505	0.985000	0.73830	3.147000	0.50639	1.951000	0.56629	0.600000	0.82982	CCC		0.408	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
TBC1D8B	54885	broad.mit.edu	37	X	106083351	106083351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:106083351G>A	ENST00000357242.5	+	9	1601	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R470Q|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.R476Q	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	476							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R476Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTATGTTTCGAACCAAAAAG	0.348													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14007	0.0		0.0	False		,,,				2504	0.0				p.R476Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	X						.						151.0	139.0	143.0					X																	106083351		2203	4300	6503	105970007	SO:0001583	missense	54885	exon9			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1427G>A	X.37:g.106083351G>A	ENSP00000349781:p.Arg476Gln	Somatic		Capture	Illumina HiSeq	Phase_I	105970007	NM_198881	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688297	0.88639	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.04502	3.61;3.61;3.61	5.88	5.88	0.94601	Rab-GAP/TBC domain (1);	0.138785	0.49305	D	0.000142	T	0.25901	0.0631	M	0.87097	2.86	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	P;D	0.65773	0.552;0.938	T	0.01528	-1.1332	10	0.62326	D	0.03	-11.169	17.5848	0.87978	0.0:0.0:1.0:0.0	.	476;476	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	Q	476;476;470	ENSP00000349781:R476Q;ENSP00000310675:R476Q;ENSP00000276175:R470Q	ENSP00000276175:R470Q	R	+	2	0	TBC1D8B	105970007	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.654000	0.83653	2.474000	0.83562	0.600000	0.82982	CGA		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
VSIG1	340547	broad.mit.edu	37	X	107310235	107310235	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:107310235G>A	ENST00000217957.5	+	3	400	c.283G>A	c.(283-285)Gat>Aat	p.D95N	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Missense_Mutation_p.D131N	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	95	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.D131N(1)|p.D95N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGGTCCAACGATCCAGGTAA	0.433																																					p.D95N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G283A	X						.						159.0	135.0	143.0					X																	107310235		2203	4300	6503	107196891	SO:0001583	missense	340547	exon3			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.283G>A	X.37:g.107310235G>A	ENSP00000217957:p.Asp95Asn	Somatic		Capture	Illumina HiSeq	Phase_I	107196891	NM_182607	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.786835	0.00628	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.61742	0.08;0.08;0.08	5.19	-4.43	0.03568	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.315700	0.00682	N	0.000686	T	0.28499	0.0705	N	0.03917	-0.325	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.08055	0.003;0.002	T	0.39099	-0.9630	10	0.06625	T	0.88	.	8.034	0.30482	0.6647:0.12:0.2153:0.0	.	131;95	C9J4P2;Q86XK7	.;VSIG1_HUMAN	N	131;95;131	ENSP00000402219:D131N;ENSP00000217957:D95N;ENSP00000407102:D131N	ENSP00000217957:D95N	D	+	1	0	VSIG1	107196891	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.099000	0.15210	-0.856000	0.04120	-0.390000	0.06520	GAT		0.433	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
COL4A6	1288	broad.mit.edu	37	X	107418969	107418969	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:107418969A>C	ENST00000372216.4	-	29	2848	c.2748T>G	c.(2746-2748)atT>atG	p.I916M	COL4A6_ENST00000545689.1_Missense_Mutation_p.I915M|COL4A6_ENST00000394872.2_Missense_Mutation_p.I916M|COL4A6_ENST00000334504.7_Missense_Mutation_p.I915M|COL4A6_ENST00000538570.1_Missense_Mutation_p.I915M	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	916	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.I915M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGTTCCAGGAATACCAGGCA	0.443									Alport syndrome with Diffuse Leiomyomatosis																												p.I915M	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2745G	X						.						81.0	72.0	75.0					X																	107418969		2203	4300	6503	107305625	SO:0001583	missense	1288	exon29	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2748T>G	X.37:g.107418969A>C	ENSP00000361290:p.Ile916Met	Somatic		Capture	Illumina HiSeq	Phase_I	107305625	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	8.663	0.901109	0.17760	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.21	4.05	0.47172	.	0.172114	0.28052	N	0.016790	D	0.91405	0.7288	N	0.20807	0.61	0.25739	N	0.985181	D;D;D;P	0.63046	0.989;0.981;0.992;0.676	P;D;P;B	0.64237	0.78;0.923;0.908;0.401	D	0.83462	0.0054	10	0.34782	T	0.22	.	7.6383	0.28280	0.8187:0.0:0.1813:0.0	.	915;915;916;915	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	M	916;915;916;915;915;915	ENSP00000361290:I916M;ENSP00000334733:I915M;ENSP00000378340:I916M;ENSP00000443707:I915M;ENSP00000445236:I915M	ENSP00000334733:I915M	I	-	3	3	COL4A6	107305625	0.999000	0.42202	1.000000	0.80357	0.128000	0.20619	0.784000	0.26816	0.861000	0.35504	0.417000	0.27973	ATT		0.443	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A5	1287	broad.mit.edu	37	X	107834847	107834847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:107834847G>T	ENST00000361603.2	+	21	1640	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*	COL4A5_ENST00000328300.6_Nonsense_Mutation_p.G466*	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	466	Triple-helical region.		G -> E (in APSX).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G466*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTGATAAAGGACTCCAAGG	0.418									Alport syndrome with Diffuse Leiomyomatosis																												p.G466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1396T	X						.						98.0	101.0	100.0					X																	107834847		2203	4300	6503	107721503	SO:0001587	stop_gained	1287	exon21	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1396G>T	X.37:g.107834847G>T	ENSP00000354505:p.Gly466*	Somatic		Capture	Illumina HiSeq	Phase_I	107721503	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	g	37	6.631708	0.97722	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.22	5.22	0.72569	.	0.059497	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8192	0.85741	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000331902:G466X	G	+	1	0	COL4A5	107721503	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	8.504000	0.90512	2.178000	0.69098	0.464000	0.42555	GGA		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
KCNE1L	23630	broad.mit.edu	37	X	108868112	108868112	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:108868112G>A	ENST00000372101.2	-	1	281	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	46					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)	p.F46F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CGCGGCCCACGAAAGGGTCAG	0.657																																					p.F46F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	X						.						38.0	34.0	35.0					X																	108868112		2200	4296	6496	108754768	SO:0001819	synonymous_variant	23630	exon1			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.138C>T	X.37:g.108868112G>A		Somatic		Capture	Illumina HiSeq	Phase_I	108754768	NM_012282		Silent	SNP	ENST00000372101.2	37	CCDS14547.1																																																																																				0.657	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282	
RGAG1	57529	broad.mit.edu	37	X	109695333	109695333	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:109695333G>T	ENST00000465301.2	+	3	1734	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	RGAG1_ENST00000540313.1_Missense_Mutation_p.K496N	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	496								p.K496N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCTGGAAAGATGTCCACGC	0.507																																					p.K496N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1488T	X						.						142.0	132.0	135.0					X																	109695333		2203	4300	6503	109581989	SO:0001583	missense	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1488G>T	X.37:g.109695333G>T	ENSP00000419786:p.Lys496Asn	Somatic		Capture	Illumina HiSeq	Phase_I	109581989	NM_020769	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130755	0.06753	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.45276	0.9;0.9	3.1	-0.431	0.12295	.	.	.	.	.	T	0.29061	0.0722	L	0.44542	1.39	0.09310	N	1	B	0.29805	0.257	B	0.29077	0.098	T	0.19877	-1.0292	8	.	.	.	18.0598	4.6164	0.12428	0.2653:0.1774:0.5573:0.0	.	496	Q8NET4	RGAG1_HUMAN	N	496	ENSP00000419786:K496N;ENSP00000441452:K496N	.	K	+	3	2	RGAG1	109581989	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.984000	0.03755	-0.198000	0.10333	0.544000	0.68410	AAG		0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
IL13RA2	3598	broad.mit.edu	37	X	114238658	114238658	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:114238658A>C	ENST00000371936.1	-	11	1377	c.1128T>G	c.(1126-1128)ttT>ttG	p.F376L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.F376L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	376					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.F376L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TATCACAGAAAAATTCTGGAA	0.338																																					p.F376L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1128G	X						.						79.0	69.0	72.0					X																	114238658		2201	4298	6499	114144914	SO:0001583	missense	3598	exon10			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1128T>G	X.37:g.114238658A>C	ENSP00000361004:p.Phe376Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114144914	NM_000640	A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	A	6.661	0.490480	0.12702	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89552	-2.53;-2.53	3.7	1.24	0.21308	.	3.315010	0.02678	N	0.109328	D	0.84320	0.5446	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.67154	-0.5742	10	0.42905	T	0.14	0.2306	7.3638	0.26762	0.5508:0.4492:0.0:0.0	.	376	Q14627	I13R2_HUMAN	L	376	ENSP00000361004:F376L;ENSP00000243213:F376L	ENSP00000243213:F376L	F	-	3	2	IL13RA2	114144914	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.379000	0.34340	0.145000	0.18977	-1.260000	0.01463	TTT		0.338	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
MSL3	10943	broad.mit.edu	37	X	11780325	11780325	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:11780325A>C	ENST00000312196.4	+	6	647	c.542A>C	c.(541-543)aAg>aCg	p.K181T	MSL3_ENST00000337339.2_Missense_Mutation_p.K181T|MSL3_ENST00000361672.2_Missense_Mutation_p.K32T|MSL3_ENST00000380693.3_Missense_Mutation_p.K15T|MSL3_ENST00000398527.2_Missense_Mutation_p.K169T	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	181	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K181T(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAAGTTCTGAAGAAGCAGCTG	0.348																																					p.K15T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A44C	X						.						98.0	92.0	94.0					X																	11780325		2203	4299	6502	11690246	SO:0001583	missense	10943	exon5			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.542A>C	X.37:g.11780325A>C	ENSP00000312244:p.Lys181Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11690246	NM_006800	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315701	0.81469	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000476743;ENST00000421368;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;D;T;T;T;T	0.82984	2.35;2.35;2.35;-1.67;2.35;2.35;2.35;2.35	4.99	4.99	0.66335	Chromo domain-like (1);	0.052890	0.64402	D	0.000001	D	0.93006	0.7774	M	0.93507	3.425	0.53688	D	0.99997	D;D;D;D;D	0.89917	0.996;0.999;0.999;1.0;0.997	D;D;D;D;D	0.87578	0.993;0.997;0.994;0.998;0.969	D	0.94631	0.7822	10	0.87932	D	0	.	14.0297	0.64609	1.0:0.0:0.0:0.0	.	169;32;122;181;181	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	T	181;181;32;15;169;169;15;15	ENSP00000312244:K181T;ENSP00000338078:K181T;ENSP00000354562:K32T;ENSP00000419976:K15T;ENSP00000401809:K169T;ENSP00000381538:K169T;ENSP00000370069:K15T;ENSP00000370068:K15T	ENSP00000312244:K181T	K	+	2	0	MSL3	11690246	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.705000	0.84606	1.758000	0.51981	0.486000	0.48141	AAG		0.348	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	
MSL3	10943	broad.mit.edu	37	X	11790783	11790783	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:11790783G>T	ENST00000312196.4	+	12	1530	c.1425G>T	c.(1423-1425)aaG>aaT	p.K475N	MSL3_ENST00000361672.2_Missense_Mutation_p.K326N|MSL3_ENST00000380693.3_Missense_Mutation_p.K309N|MSL3_ENST00000398527.2_Missense_Mutation_p.K463N	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	475	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K475N(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTCTGAGAAGAATCTGAAGG	0.333																																					p.K309N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	X						.						81.0	72.0	75.0					X																	11790783		2203	4300	6503	11700704	SO:0001583	missense	10943	exon11			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1425G>T	X.37:g.11790783G>T	ENSP00000312244:p.Lys475Asn	Somatic		Capture	Illumina HiSeq	Phase_I	11700704	NM_006800	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392457	0.62066	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.0	5.0	0.66597	.	0.056452	0.64402	D	0.000001	T	0.33089	0.0851	M	0.86864	2.845	0.43417	D	0.995562	D;D;D;D	0.71674	0.998;0.975;0.969;0.998	D;P;P;D	0.69824	0.966;0.807;0.785;0.966	T	0.10291	-1.0636	10	0.52906	T	0.07	.	8.1382	0.31067	0.2409:0.0:0.7591:0.0	.	463;326;416;475	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2	.;.;.;MS3L1_HUMAN	N	475;326;463;309	ENSP00000312244:K475N;ENSP00000354562:K326N;ENSP00000381538:K463N;ENSP00000370069:K309N	ENSP00000312244:K475N	K	+	3	2	MSL3	11700704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.137000	0.50562	2.074000	0.62210	0.600000	0.82982	AAG		0.333	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	
IL13RA2	3598	broad.mit.edu	37	X	114239865	114239865	+	Silent	SNP	C	C	T	rs368591186		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:114239865C>T	ENST00000371936.1	-	10	1260	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	IL13RA2_ENST00000243213.1_Silent_p.S337S			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	337					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.S337S(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGTTTTCTTCGATAGGTCTT	0.353																																					p.S337S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1011A	X						.	C		0,3835		0,0,1632,571	68.0	65.0	66.0		1011	3.8	0.0	X		66	1,6727		0,1,2427,1872	no	coding-synonymous	IL13RA2	NM_000640.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		337/381	114239865	1,10562	2203	4300	6503	114146121	SO:0001819	synonymous_variant	3598	exon9			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1011G>A	X.37:g.114239865C>T		Somatic		Capture	Illumina HiSeq	Phase_I	114146121	NM_000640	A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	CCDS14565.1																																																																																				0.353	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
DOCK11	139818	broad.mit.edu	37	X	117680025	117680025	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:117680025A>G	ENST00000276202.7	+	6	567	c.504A>G	c.(502-504)aaA>aaG	p.K168K	DOCK11_ENST00000276204.6_Silent_p.K168K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	168	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K168K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTGTGATAAAACAAGGCTGGT	0.348																																					p.K168K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A504G	X						.						145.0	121.0	129.0					X																	117680025		2203	4300	6503	117564053	SO:0001819	synonymous_variant	139818	exon6			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.504A>G	X.37:g.117680025A>G		Somatic		Capture	Illumina HiSeq	Phase_I	117564053	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																				0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	broad.mit.edu	37	X	117777480	117777480	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:117777480C>A	ENST00000276202.7	+	40	4384	c.4321C>A	c.(4321-4323)Ctt>Att	p.L1441I	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1441I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1441					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1441I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGATATACATCTTGCTTTTCT	0.353																																					p.L1441I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4321A	X						.						177.0	178.0	178.0					X																	117777480		2203	4300	6503	117661508	SO:0001583	missense	139818	exon40			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4321C>A	X.37:g.117777480C>A	ENSP00000276202:p.Leu1441Ile	Somatic		Capture	Illumina HiSeq	Phase_I	117661508	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871381	0.91587	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.57907	0.37;0.37	5.22	5.22	0.72569	.	0.066478	0.64402	D	0.000008	T	0.74207	0.3686	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.986	T	0.77278	-0.2647	10	0.59425	D	0.04	-13.4553	18.1307	0.89600	0.0:1.0:0.0:0.0	.	1441;1441	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1441	ENSP00000276204:L1441I;ENSP00000276202:L1441I	ENSP00000276202:L1441I	L	+	1	0	DOCK11	117661508	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.802000	0.55553	2.304000	0.77564	0.600000	0.82982	CTT		0.353	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	broad.mit.edu	37	X	117796732	117796732	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:117796732A>G	ENST00000276202.7	+	45	5116	c.5053A>G	c.(5053-5055)Atg>Gtg	p.M1685V	DOCK11_ENST00000276204.6_Missense_Mutation_p.M1685V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1685	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1685V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGATGCTGGGATGATGGATGT	0.323																																					p.M1685V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5053G	X						.						97.0	84.0	89.0					X																	117796732		2203	4300	6503	117680760	SO:0001583	missense	139818	exon45			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5053A>G	X.37:g.117796732A>G	ENSP00000276202:p.Met1685Val	Somatic		Capture	Illumina HiSeq	Phase_I	117680760	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640930	0.67244	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.16073	2.37;2.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.48174	1.505	0.54753	D	0.999984	D;P	0.56746	0.977;0.879	D;P	0.74348	0.983;0.712	T	0.04065	-1.0980	10	0.16420	T	0.52	-10.0342	14.0842	0.64944	1.0:0.0:0.0:0.0	.	1685;1685	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	1685	ENSP00000276204:M1685V;ENSP00000276202:M1685V	ENSP00000276202:M1685V	M	+	1	0	DOCK11	117680760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	1.991000	0.58162	0.486000	0.48141	ATG		0.323	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	broad.mit.edu	37	X	117814643	117814643	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:117814643A>G	ENST00000276202.7	+	49	5722	c.5659A>G	c.(5659-5661)Aca>Gca	p.T1887A	DOCK11_ENST00000276204.6_Missense_Mutation_p.T1887A	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1887	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1887A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAACGCCGTACAATCTTGAC	0.378																																					p.T1887A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5659G	X						.						88.0	93.0	91.0					X																	117814643		2203	4300	6503	117698671	SO:0001583	missense	139818	exon49			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5659A>G	X.37:g.117814643A>G	ENSP00000276202:p.Thr1887Ala	Somatic		Capture	Illumina HiSeq	Phase_I	117698671	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824132	0.71143	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.23147	1.92;1.92	5.35	5.35	0.76521	.	0.052388	0.85682	D	0.000000	T	0.57403	0.2051	M	0.91818	3.245	0.58432	D	0.999993	D;D	0.60160	0.987;0.987	D;D	0.66602	0.945;0.945	T	0.68006	-0.5523	10	0.87932	D	0	-2.8567	13.4936	0.61411	1.0:0.0:0.0:0.0	.	1887;1887	A6NIW2;Q5JSL3	.;DOC11_HUMAN	A	1887	ENSP00000276204:T1887A;ENSP00000276202:T1887A	ENSP00000276202:T1887A	T	+	1	0	DOCK11	117698671	0.999000	0.42202	0.832000	0.32986	0.895000	0.52256	5.814000	0.69208	1.781000	0.52344	0.345000	0.21793	ACA		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
ZCCHC12	170261	broad.mit.edu	37	X	117960387	117960387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:117960387G>A	ENST00000310164.2	+	4	1687	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	394					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E394K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGCCCCTGGCGAATACAATGA	0.512																																					p.E394K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1180A	X						.						65.0	63.0	64.0					X																	117960387		2203	4300	6503	117844415	SO:0001583	missense	170261	exon4			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1180G>A	X.37:g.117960387G>A	ENSP00000308921:p.Glu394Lys	Somatic		Capture	Illumina HiSeq	Phase_I	117844415	NM_173798	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865092	0.02590	.	.	ENSG00000174460	ENST00000310164	T	0.39056	1.1	3.24	0.417	0.16421	.	.	.	.	.	T	0.32496	0.0831	L	0.41027	1.25	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.23119	-1.0197	9	0.40728	T	0.16	-0.2915	10.4387	0.44452	0.0:0.5973:0.4027:0.0	.	394	Q6PEW1	ZCH12_HUMAN	K	394	ENSP00000308921:E394K	ENSP00000308921:E394K	E	+	1	0	ZCCHC12	117844415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.106000	0.03319	-0.038000	0.13624	-0.202000	0.12741	GAA		0.512	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798	
KIAA1210	57481	broad.mit.edu	37	X	118222004	118222004	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:118222004G>T	ENST00000402510.2	-	11	3188	c.3189C>A	c.(3187-3189)ttC>ttA	p.F1063L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1063								p.F1063L(1)|p.F887L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGAGTCCAGGAACTTAGGCC	0.527																																					p.F1063L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3189A	X						.						91.0	93.0	92.0					X																	118222004		2054	4177	6231	118106032	SO:0001583	missense	57481	exon11			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3189C>A	X.37:g.118222004G>T	ENSP00000384670:p.Phe1063Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118106032	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.400|6.400	0.441877|0.441877	0.12164|0.12164	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.12361|.	2.69|.	3.29|3.29	0.424|0.424	0.16468|0.16468	.|.	.|.	.|.	.|.	.|.	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.23128|.	0.08|.	B|.	0.20955|.	0.032|.	T|T	0.24083|0.24083	-1.0170|-1.0170	9|5	0.11485|.	T|.	0.65|.	.|.	3.0491|3.0491	0.06164|0.06164	0.2857:0.2308:0.4834:0.0|0.2857:0.2308:0.4834:0.0	.|.	1063|.	Q9ULL0|.	K1210_HUMAN|.	L|T	1063|470	ENSP00000384670:F1063L|.	ENSP00000384670:F1063L|.	F|P	-|-	3|1	2|0	RP13-347D8.6|KIAA1210	118106032|118106032	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.143000|0.143000	0.21401|0.21401	-0.740000|-0.740000	0.04861|0.04861	-0.035000|-0.035000	0.13691|0.13691	0.422000|0.422000	0.28245|0.28245	TTC|CCT		0.527	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
UBE2A	7319	broad.mit.edu	37	X	118715490	118715490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:118715490G>T	ENST00000371558.2	+	4	346	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	UBE2A_ENST00000346330.3_Intron|UBE2A_ENST00000371569.5_5'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	58					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.E58*(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						ACTTACAATAGAATTCACTGA	0.299								Rad6 pathway																													p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	X						.						81.0	79.0	80.0					X																	118715490		2202	4298	6500	118599518	SO:0001587	stop_gained	7319	exon4			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.172G>T	X.37:g.118715490G>T	ENSP00000360613:p.Glu58*	Somatic		Capture	Illumina HiSeq	Phase_I	118599518	NM_003336	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Nonsense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	38	7.024582	0.98010	.	.	ENSG00000077721	ENST00000371558	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.6356	17.9034	0.88911	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000360613:E58X	E	+	1	0	UBE2A	118599518	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.858000	0.99539	2.448000	0.82819	0.600000	0.82982	GAA		0.299	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	
UPF3B	65109	broad.mit.edu	37	X	118985827	118985827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:118985827G>A	ENST00000276201.2	-	2	235	c.166C>T	c.(166-168)Cga>Tga	p.R56*	UPF3B_ENST00000345865.2_Nonsense_Mutation_p.R56*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	56	Binds to UPF2.|Necessary for interaction with UPF2.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R56*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GGTAATCTTCGAATTACCACC	0.373																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	X						.						48.0	47.0	47.0					X																	118985827		2203	4300	6503	118869855	SO:0001587	stop_gained	65109	exon2			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.166C>T	X.37:g.118985827G>A	ENSP00000276201:p.Arg56*	Somatic		Capture	Illumina HiSeq	Phase_I	118869855	NM_080632	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.752861	0.96890	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	.	.	.	4.85	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.72	0.23325	0.0982:0.0:0.725:0.1767	.	.	.	.	X	56	.	ENSP00000276201:R56X	R	-	1	2	UPF3B	118869855	1.000000	0.71417	0.930000	0.37139	0.997000	0.91878	4.682000	0.61671	0.299000	0.22661	0.600000	0.82982	CGA		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
XIAP	331	broad.mit.edu	37	X	123034434	123034434	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:123034434T>G	ENST00000371199.3	+	6	1490	c.1191T>G	c.(1189-1191)atT>atG	p.I397M	XIAP_ENST00000355640.3_Missense_Mutation_p.I397M|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.I397M	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	397					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I397M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGGAAAAAATTCAGATATCTG	0.368									X-linked Lymphoproliferative syndrome																												p.I397M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1191G	X						.						71.0	67.0	68.0					X																	123034434		2203	4299	6502	122862115	SO:0001583	missense	331	exon6	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1191T>G	X.37:g.123034434T>G	ENSP00000360242:p.Ile397Met	Somatic		Capture	Illumina HiSeq	Phase_I	122862115	NM_001167	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	t	13.13	2.145083	0.37825	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.32023	1.47;1.47;1.47	4.31	0.368	0.16146	.	0.512676	0.18847	N	0.129508	T	0.26484	0.0647	M	0.76328	2.33	0.33986	D	0.648605	B	0.28400	0.21	B	0.29267	0.1	T	0.32508	-0.9904	10	0.72032	D	0.01	-0.7988	0.1049	0.00051	0.2749:0.2318:0.162:0.3313	.	397	P98170	XIAP_HUMAN	M	397	ENSP00000395230:I397M;ENSP00000360242:I397M;ENSP00000347858:I397M	ENSP00000347858:I397M	I	+	3	3	XIAP	122862115	0.998000	0.40836	0.904000	0.35570	0.954000	0.61252	0.216000	0.17585	0.183000	0.20059	0.350000	0.21858	ATT		0.368	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167	
STAG2	10735	broad.mit.edu	37	X	123176435	123176435	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:123176435A>C	ENST00000371160.1	+	7	692	c.402A>C	c.(400-402)gaA>gaC	p.E134D	STAG2_ENST00000371157.3_Missense_Mutation_p.E134D|STAG2_ENST00000371144.3_Missense_Mutation_p.E134D|STAG2_ENST00000371145.3_Missense_Mutation_p.E134D|STAG2_ENST00000354548.5_Missense_Mutation_p.E65D|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.E134D	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	134					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E134D(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCACAGCAGAAATGTTTAGAC	0.313																																					p.E134D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A402C	X						.						71.0	69.0	70.0					X																	123176435		2203	4300	6503	123004116	SO:0001583	missense	10735	exon7			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.402A>C	X.37:g.123176435A>C	ENSP00000360202:p.Glu134Asp	Somatic		Capture	Illumina HiSeq	Phase_I	123004116	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165042	0.38217	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	T;T;T;T;T;T;T	0.44482	1.93;0.92;1.51;1.53;1.53;1.93;1.53	5.44	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.38692	1.165	0.43835	D	0.996419	B;B	0.20459	0.045;0.026	B;B	0.29598	0.104;0.048	T	0.04495	-1.0947	10	0.17369	T	0.5	-14.4626	5.4019	0.16301	0.3369:0.1779:0.4852:0.0	.	134;134	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	D	134;134;65;134;134;134;134;134;134;134	ENSP00000218089:E134D;ENSP00000397265:E134D;ENSP00000346555:E65D;ENSP00000360202:E134D;ENSP00000360199:E134D;ENSP00000360187:E134D;ENSP00000360186:E134D	ENSP00000218089:E134D	E	+	3	2	STAG2	123004116	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.811000	0.27198	0.193000	0.20303	-0.479000	0.04858	GAA		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
STAG2	10735	broad.mit.edu	37	X	123181256	123181256	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:123181256T>C	ENST00000371160.1	+	9	1010	c.720T>C	c.(718-720)aaT>aaC	p.N240N	STAG2_ENST00000371157.3_Silent_p.N240N|STAG2_ENST00000371144.3_Silent_p.N240N|STAG2_ENST00000371145.3_Silent_p.N240N|STAG2_ENST00000354548.5_Silent_p.N171N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.N240N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	240					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.N240N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTAGCATTAATATGGATAATA	0.358																																					p.N240N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T720C	X						.						88.0	84.0	85.0					X																	123181256		2203	4300	6503	123008937	SO:0001819	synonymous_variant	10735	exon9			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.720T>C	X.37:g.123181256T>C		Somatic		Capture	Illumina HiSeq	Phase_I	123008937	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	CCDS14607.1																																																																																				0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
TLR7	51284	broad.mit.edu	37	X	12906409	12906409	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:12906409C>A	ENST00000380659.3	+	3	2921	c.2782C>A	c.(2782-2784)Ctc>Atc	p.L928I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	928	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L928I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAATTTATGTCTCGAGGAAAG	0.458																																					p.L928I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2782A	X						.						96.0	100.0	99.0					X																	12906409		2203	4300	6503	12816330	SO:0001583	missense	51284	exon3			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2782C>A	X.37:g.12906409C>A	ENSP00000370034:p.Leu928Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12816330	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715944	0.48622	.	.	ENSG00000196664	ENST00000380659	T	0.06449	3.3	5.75	5.75	0.90469	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.64402	D	0.000004	T	0.21468	0.0517	M	0.73217	2.22	0.48135	D	0.999597	D	0.89917	1.0	D	0.97110	1.0	T	0.00280	-1.1852	10	0.87932	D	0	.	8.8911	0.35434	0.0:0.7809:0.0:0.2191	.	928	Q9NYK1	TLR7_HUMAN	I	928	ENSP00000370034:L928I	ENSP00000370034:L928I	L	+	1	0	TLR7	12816330	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.357000	0.34090	2.419000	0.82065	0.600000	0.82982	CTC		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
DCAF12L2	340578	broad.mit.edu	37	X	125299859	125299859	+	Missense_Mutation	SNP	C	C	T	rs368071765		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:125299859C>T	ENST00000360028.2	-	1	75	c.49G>A	c.(49-51)Gag>Aag	p.E17K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E17K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	17								p.E17K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCTCCCGCCTCGACCGCGGGC	0.741																																					p.E17K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49A	X						.	C	LYS/GLU	1,3320		0,1,1414,491	11.0	13.0	12.0		49	1.9	0.0	X		12	0,6077		0,0,2260,1557	no	missense	DCAF12L2	NM_001013628.2	56	0,1,3674,2048	TT,TC,CC,C		0.0,0.0301,0.0106	benign	17/464	125299859	1,9397	1906	3817	5723	125127540	SO:0001583	missense	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.49G>A	X.37:g.125299859C>T	ENSP00000353128:p.Glu17Lys	Somatic		Capture	Illumina HiSeq	Phase_I	125127540	NM_001013628	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	10.78	1.445955	0.25987	3.01E-4	0.0	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18810	2.19;2.19	2.77	1.86	0.25419	.	.	.	.	.	T	0.12220	0.0297	L	0.54323	1.7	0.09310	N	1	P	0.43662	0.814	B	0.30943	0.122	T	0.15150	-1.0447	9	0.06236	T	0.91	.	6.7282	0.23369	0.0:0.7098:0.2902:0.0	.	17	Q5VW00	DC122_HUMAN	K	17	ENSP00000441489:E17K;ENSP00000353128:E17K	ENSP00000353128:E17K	E	-	1	0	DCAF12L2	125127540	0.000000	0.05858	0.002000	0.10522	0.200000	0.23975	0.374000	0.20501	0.548000	0.28955	0.287000	0.19450	GAG		0.741	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
OCRL	4952	broad.mit.edu	37	X	128699842	128699842	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:128699842A>G	ENST00000371113.4	+	13	1503	c.1338A>G	c.(1336-1338)agA>agG	p.R446R	OCRL_ENST00000357121.5_Silent_p.R446R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	446	5-phosphatase.				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)	p.R446R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACCTTCAGAGACTCTTGAAAT	0.368																																					p.R446R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1338G	X						.						91.0	92.0	91.0					X																	128699842		2203	4300	6503	128527523	SO:0001819	synonymous_variant	4952	exon13			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1338A>G	X.37:g.128699842A>G		Somatic		Capture	Illumina HiSeq	Phase_I	128527523	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	CCDS35393.1																																																																																				0.368	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
OCRL	4952	broad.mit.edu	37	X	128710312	128710312	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:128710312C>A	ENST00000371113.4	+	18	2063	c.1898C>A	c.(1897-1899)tCt>tAt	p.S633Y	OCRL_ENST00000357121.5_Missense_Mutation_p.S633Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	633	ASH.				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)	p.S633Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGGACATTTCTCTTGATGTG	0.398																																					p.S633Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1898A	X						.						114.0	96.0	102.0					X																	128710312		2203	4300	6503	128537993	SO:0001583	missense	4952	exon18			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1898C>A	X.37:g.128710312C>A	ENSP00000360154:p.Ser633Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	128537993	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432795	0.25813	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94417	-3.42;-3.42	6.07	5.19	0.71726	.	0.159483	0.64402	N	0.000016	D	0.89691	0.6788	L	0.39397	1.21	0.49213	D	0.999765	B;B	0.32245	0.199;0.361	B;B	0.25506	0.03;0.061	D	0.86691	0.1923	10	0.37606	T	0.19	.	10.441	0.44466	0.1501:0.7084:0.1414:0.0	.	633;633	Q01968-2;Q01968	.;OCRL_HUMAN	Y	633	ENSP00000360154:S633Y;ENSP00000349635:S633Y	ENSP00000349635:S633Y	S	+	2	0	OCRL	128537993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.905000	0.48727	1.281000	0.44480	0.600000	0.82982	TCT		0.398	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
SASH3	54440	broad.mit.edu	37	X	128926733	128926733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:128926733G>A	ENST00000356892.3	+	6	836	c.722G>A	c.(721-723)cGc>cAc	p.R241H	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	241					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R241H(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGGCATGCCCGCCCCAGCCGC	0.622																																					p.R241H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	X						.						41.0	42.0	42.0					X																	128926733		2203	4300	6503	128754414	SO:0001583	missense	54440	exon6			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.722G>A	X.37:g.128926733G>A	ENSP00000349359:p.Arg241His	Somatic		Capture	Illumina HiSeq	Phase_I	128754414	NM_018990	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783027	0.49891	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.49720	0.77	5.26	5.26	0.73747	Src homology-3 domain (1);	0.112482	0.64402	D	0.000002	T	0.62913	0.2467	M	0.62723	1.935	0.44409	D	0.997327	D;D	0.89917	1.0;0.996	P;P	0.62184	0.899;0.68	T	0.66814	-0.5828	10	0.87932	D	0	-10.7267	14.0881	0.64971	0.0:0.1477:0.8522:0.0	.	259;241	B4DKQ0;O75995	.;SASH3_HUMAN	H	259;241	ENSP00000349359:R241H	ENSP00000349359:R241H	R	+	2	0	SASH3	128754414	0.995000	0.38212	0.996000	0.52242	0.595000	0.36748	3.252000	0.51461	2.209000	0.71365	0.529000	0.55759	CGC		0.622	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990	
ZDHHC9	51114	broad.mit.edu	37	X	128957707	128957707	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:128957707C>A	ENST00000357166.6	-	5	826	c.435G>T	c.(433-435)aaG>aaT	p.K145N	AL359542.1_ENST00000582964.1_RNA|ZDHHC9_ENST00000371064.3_Missense_Mutation_p.K145N|ZDHHC9_ENST00000491039.1_5'UTR	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	145					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.K145N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GCCGGAAGATCTTGCATGTGT	0.517																																					p.K145N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	X						.						142.0	133.0	136.0					X																	128957707		2203	4300	6503	128785388	SO:0001583	missense	51114	exon5			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.435G>T	X.37:g.128957707C>A	ENSP00000349689:p.Lys145Asn	Somatic		Capture	Illumina HiSeq	Phase_I	128785388	NM_016032	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.92|19.92	3.916476|3.916476	0.73098|0.73098	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492|ENST00000433917	T;T;T|.	0.23950|.	1.88;1.88;1.88|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Zinc finger, DHHC-type, palmitoyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62575|0.62575	0.2439|0.2439	L|L	0.53249|0.53249	1.67|1.67	0.54753|0.54753	D|D	0.999986|0.999986	P|.	0.52061|.	0.95|.	P|.	0.57548|.	0.823|.	T|T	0.60697|0.60697	-0.7212|-0.7212	10|5	0.28530|.	T|.	0.3|.	-15.1815|-15.1815	11.8457|11.8457	0.52383|0.52383	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	145|.	Q9Y397|.	ZDHC9_HUMAN|.	N|I	145|105	ENSP00000349689:K145N;ENSP00000360103:K145N;ENSP00000383991:K145N|.	ENSP00000349689:K145N|.	K|R	-|-	3|2	2|0	ZDHHC9|ZDHHC9	128785388|128785388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	3.788000|3.788000	0.55446|0.55446	2.369000|2.369000	0.80426|0.80426	0.597000|0.597000	0.82753|0.82753	AAG|AGA		0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	
BCORL1	63035	broad.mit.edu	37	X	129149947	129149947	+	Missense_Mutation	SNP	C	C	T	rs373106469		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:129149947C>T	ENST00000218147.7	+	4	3396	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	BCORL1_ENST00000540052.1_Missense_Mutation_p.R1067W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1067W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1067W			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1067					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1067W(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCTGCTTCCGGGCTGATGG	0.597																																					p.R1067W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3199T	X						.	C	TRP/ARG	0,3835		0,0,1632,571	72.0	62.0	65.0		3199	5.2	1.0	X		65	2,6726		0,2,2426,1872	no	missense	BCORL1	NM_021946.4	101	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	1067/1712	129149947	2,10561	2203	4300	6503	128977628	SO:0001583	missense	63035	exon3			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3199C>T	X.37:g.129149947C>T	ENSP00000218147:p.Arg1067Trp	Somatic		Capture	Illumina HiSeq	Phase_I	128977628	NM_021946	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.303796|3.303796	0.60305|0.60305	0.0|0.0	2.97E-4|2.97E-4	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.49720	.|0.79;1.15;0.77;0.79;1.22	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.33438	.|N	.|0.004912	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.29908|0.29908	0.895|0.895	0.39865|0.39865	D|D	0.973434|0.973434	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.978;0.952	T|T	0.64655|0.64655	-0.6356|-0.6356	5|10	.|0.66056	.|D	.|0.02	-16.2242|-16.2242	17.8442|17.8442	0.88724|0.88724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1067;1067	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	L|W	502|1067;1067;1067;1067;667	.|ENSP00000218147:R1067W;ENSP00000307541:R1067W;ENSP00000352253:R1067W;ENSP00000437775:R1067W;ENSP00000399483:R667W	.|ENSP00000218147:R1067W	P|R	+|+	2|1	0|2	BCORL1|BCORL1	128977628|128977628	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.520000|3.520000	0.53465|0.53465	2.147000|2.147000	0.66899|0.66899	0.529000|0.529000	0.55759|0.55759	CCG|CGG		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
GPR119	139760	broad.mit.edu	37	X	129518926	129518926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:129518926C>T	ENST00000276218.2	-	1	585	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	166					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.V166M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGGGTCAGCACGAAGTGAGGG	0.532																																					p.V166M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	X						.						113.0	93.0	100.0					X																	129518926		2203	4300	6503	129346607	SO:0001583	missense	139760	exon1			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.496G>A	X.37:g.129518926C>T	ENSP00000276218:p.Val166Met	Somatic		Capture	Illumina HiSeq	Phase_I	129346607	NM_178471	Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446683	0.04572	.	.	ENSG00000147262	ENST00000276218	T	0.38887	1.11	4.74	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.669254	0.14631	N	0.307818	T	0.27967	0.0689	L	0.43923	1.385	0.22330	N	0.999196	P	0.44478	0.836	B	0.36885	0.235	T	0.15464	-1.0436	10	0.51188	T	0.08	-5.2233	4.3577	0.11187	0.0:0.4597:0.1624:0.3779	.	166	Q8TDV5	GP119_HUMAN	M	166	ENSP00000276218:V166M	ENSP00000276218:V166M	V	-	1	0	GPR119	129346607	0.956000	0.32656	0.537000	0.28052	0.322000	0.28314	0.426000	0.21363	0.436000	0.26393	0.506000	0.49869	GTG		0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471	
ENOX2	10495	broad.mit.edu	37	X	129813619	129813619	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:129813619G>A	ENST00000370927.1	-	4	465	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ENOX2_ENST00000370935.1_Silent_p.F119F|ENOX2_ENST00000492263.1_Intron|ENOX2_ENST00000394363.1_Silent_p.F119F|ENOX2_ENST00000338144.3_Silent_p.F148F			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	148	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.F148F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CACACTGCTCGAAAACTTCCA	0.488																																					p.F148F	Ovarian(101;828 1506 2951 9500 35258)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	X						.						183.0	149.0	161.0					X																	129813619		2203	4300	6503	129641300	SO:0001819	synonymous_variant	10495	exon7			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.444C>T	X.37:g.129813619G>A		Somatic		Capture	Illumina HiSeq	Phase_I	129641300	NM_182314	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	CCDS14626.1																																																																																				0.488	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
IGSF1	3547	broad.mit.edu	37	X	130417006	130417006	+	Silent	SNP	G	G	A	rs376545217		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:130417006G>A	ENST00000361420.3	-	6	979	c.900C>T	c.(898-900)gaC>gaT	p.D300D	IGSF1_ENST00000370904.1_Silent_p.D291D|IGSF1_ENST00000370903.3_Silent_p.D300D|IGSF1_ENST00000370910.1_Silent_p.D291D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	300	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.D300D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATATGATGCGTCATAGTAAA	0.388													G|||	1	0.000264901	0.0	0.0	3775	,	,		16215	0.001		0.0	False		,,,				2504	0.0				p.D300D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C900T	X						.	G	,,	1,3834		0,0,1,1632,570	118.0	97.0	104.0		900,873,900	0.4	0.9	X		104	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	IGSF1	NM_001170961.1,NM_001170962.1,NM_001555.4	,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,	300/1342,291/1328,300/1337	130417006	1,10562	2203	4300	6503	130244687	SO:0001819	synonymous_variant	3547	exon6			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.900C>T	X.37:g.130417006G>A		Somatic		Capture	Illumina HiSeq	Phase_I	130244687	NM_001555	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.388	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
IGSF1	3547	broad.mit.edu	37	X	130419990	130419990	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:130419990A>G	ENST00000361420.3	-	4	209	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P	IGSF1_ENST00000370904.1_Missense_Mutation_p.S35P|IGSF1_ENST00000370901.4_Missense_Mutation_p.S44P|IGSF1_ENST00000370900.1_Missense_Mutation_p.S44P|IGSF1_ENST00000370903.3_Missense_Mutation_p.S44P|IGSF1_ENST00000370910.1_Missense_Mutation_p.S35P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	44	Ig-like C2-type 1.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.S44P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGTAGTTGGACTCTATCCAC	0.502																																					p.S44P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T130C	X						.						99.0	95.0	96.0					X																	130419990		2203	4300	6503	130247671	SO:0001583	missense	3547	exon4			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.130T>C	X.37:g.130419990A>G	ENSP00000355010:p.Ser44Pro	Somatic		Capture	Illumina HiSeq	Phase_I	130247671	NM_001555	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	0.939	-0.710213	0.03230	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	T;T;T;T;T;T	0.00585	6.39;6.39;6.39;6.39;6.39;6.39	4.86	2.25	0.28309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.471920	0.04280	N	0.343739	T	0.00328	0.0010	N	0.01076	-1.035	0.25281	N	0.989432	B;B;P	0.35242	0.028;0.437;0.492	B;B;B	0.40659	0.013;0.227;0.336	T	0.41592	-0.9500	10	0.02654	T	1	.	6.5712	0.22539	0.6533:0.0:0.0:0.3467	.	44;35;44	Q8N6C5-3;Q8N6C5-2;Q8N6C5	.;.;IGSF1_HUMAN	P	35;44;35;44;44;44	ENSP00000359947:S35P;ENSP00000355010:S44P;ENSP00000359941:S35P;ENSP00000359940:S44P;ENSP00000359938:S44P;ENSP00000359937:S44P	ENSP00000355010:S44P	S	-	1	0	IGSF1	130247671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.904000	0.28491	0.751000	0.32900	0.486000	0.48141	TCC		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
HS6ST2	90161	broad.mit.edu	37	X	131763119	131763119	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:131763119T>A	ENST00000370836.2	-	4	1365	c.950A>T	c.(949-951)aAc>aTc	p.N317I	HS6ST2_ENST00000406696.3_Missense_Mutation_p.N43I|HS6ST2_ENST00000370833.2_Missense_Mutation_p.N211I|HS6ST2_ENST00000521489.1_Missense_Mutation_p.N357I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	317					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.N171I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTAGTGGAAGTTCCTATGGAT	0.498																																					p.N357I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1070T	X						.						33.0	30.0	31.0					X																	131763119		2070	4187	6257	131590800	SO:0001583	missense	90161	exon6			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.950A>T	X.37:g.131763119T>A	ENSP00000359873:p.Asn317Ile	Somatic		Capture	Illumina HiSeq	Phase_I	131590800	NM_001077188	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	t	18.55	3.648598	0.67358	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.74421	0.74;0.74;0.74;-0.84;0.74	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	L	0.59436	1.845	0.80722	D	1	P;P;D	0.89917	0.537;0.858;1.0	B;P;D	0.97110	0.321;0.664;1.0	D	0.85204	0.1017	10	0.72032	D	0.01	.	14.1785	0.65559	0.0:0.0:0.0:1.0	.	317;357;43	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	I	171;317;357;43;211;198	ENSP00000359874:N171I;ENSP00000359873:N317I;ENSP00000429473:N357I;ENSP00000384013:N43I;ENSP00000359870:N211I	ENSP00000324617:N198I	N	-	2	0	HS6ST2	131590800	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.037000	0.88933	1.946000	0.56461	0.483000	0.47432	AAC		0.498	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174	
USP26	83844	broad.mit.edu	37	X	132161063	132161063	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:132161063C>A	ENST00000511190.1	-	6	1655	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	USP26_ENST00000406273.1_Missense_Mutation_p.D396Y|USP26_ENST00000370832.1_Missense_Mutation_p.D396Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	396	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.D396Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTATCTTTCAGTTGA	0.388																																					p.D396Y	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186T	X						.						78.0	76.0	77.0					X																	132161063		2203	4299	6502	131988729	SO:0001583	missense	83844	exon1			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1186G>T	X.37:g.132161063C>A	ENSP00000423390:p.Asp396Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	131988729	NM_031907	B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	c	11.65	1.701396	0.30142	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.32753	1.44;1.44;1.44	3.62	2.75	0.32379	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.701207	0.12298	N	0.481353	T	0.46132	0.1377	L	0.49126	1.545	0.29341	N	0.866037	D	0.64830	0.994	D	0.66196	0.942	T	0.36696	-0.9737	10	0.87932	D	0	-5.6993	10.3832	0.44123	0.0:0.8034:0.1966:0.0	.	396	Q9BXU7	UBP26_HUMAN	Y	396	ENSP00000359869:D396Y;ENSP00000423390:D396Y;ENSP00000384360:D396Y	ENSP00000359869:D396Y	D	-	1	0	USP26	131988729	1.000000	0.71417	0.528000	0.27938	0.108000	0.19459	4.545000	0.60698	0.911000	0.36747	0.519000	0.50382	GAT		0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
CCDC160	347475	broad.mit.edu	37	X	133379050	133379050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:133379050G>A	ENST00000517294.1	+	3	603	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E74K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	74								p.E74K(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAATGAAATAGAACAAGAACA	0.294																																					p.E74K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	X						.						17.0	14.0	15.0					X																	133379050		1780	4025	5805	133206716	SO:0001583	missense	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.220G>A	X.37:g.133379050G>A	ENSP00000427951:p.Glu74Lys	Somatic		Capture	Illumina HiSeq	Phase_I	133206716	NM_001101357		Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927051	0.34002	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.31	3.5	0.40072	.	0.125056	0.35739	N	0.003019	T	0.35219	0.0924	L	0.34521	1.04	0.09310	N	1	D	0.53312	0.959	P	0.54026	0.74	T	0.09773	-1.0659	9	0.42905	T	0.14	-0.1846	6.4383	0.21835	0.1024:0.1807:0.7169:0.0	.	74	A6NGH7	CC160_HUMAN	K	74	.	ENSP00000359845:E74K	E	+	1	0	CCDC160	133206716	0.996000	0.38824	0.006000	0.13384	0.062000	0.15995	5.416000	0.66417	0.511000	0.28236	0.594000	0.82650	GAA		0.294	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
PLAC1	10761	broad.mit.edu	37	X	133700350	133700350	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:133700350G>A	ENST00000359237.4	-	3	648	c.363C>T	c.(361-363)tcC>tcT	p.S121S	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1									p.S121S(1)		large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGAGCCATGGGGACTTTTGGG	0.527																																					p.S121S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363T	X						.						126.0	111.0	116.0					X																	133700350		2203	4300	6503	133528016	SO:0001819	synonymous_variant	10761	exon3			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.363C>T	X.37:g.133700350G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133528016	NM_021796		Silent	SNP	ENST00000359237.4	37	CCDS14642.1																																																																																				0.527	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796	
SLC9A6	10479	broad.mit.edu	37	X	135106494	135106494	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:135106494C>T	ENST00000370698.3	+	12	1407	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	SLC9A6_ENST00000370701.1_Missense_Mutation_p.R438C|SLC9A6_ENST00000370695.4_Missense_Mutation_p.R490C	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	458					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.R458C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGTAGGCCTTCGTGGTGCAAT	0.423																																					p.R438C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1312T	X						.						218.0	152.0	174.0					X																	135106494		2203	4300	6503	134934160	SO:0001583	missense	10479	exon13			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1372C>T	X.37:g.135106494C>T	ENSP00000359732:p.Arg458Cys	Somatic		Capture	Illumina HiSeq	Phase_I	134934160	NM_001177651	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031979	0.75504	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.23950	1.88;1.88;1.88	5.28	5.28	0.74379	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81675	-0.0825	10	0.87932	D	0	.	16.4166	0.83744	0.0:1.0:0.0:0.0	.	490;458	Q92581-2;Q92581	.;SL9A6_HUMAN	C	438;458;490	ENSP00000359735:R438C;ENSP00000359732:R458C;ENSP00000359729:R490C	ENSP00000359729:R490C	R	+	1	0	SLC9A6	134934160	1.000000	0.71417	0.995000	0.50966	0.859000	0.49053	3.641000	0.54360	2.180000	0.69256	0.600000	0.82982	CGT		0.423	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
GPR112	139378	broad.mit.edu	37	X	135405205	135405205	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:135405205C>T	ENST00000394143.1	+	5	630	c.339C>T	c.(337-339)caC>caT	p.H113H	GPR112_ENST00000370652.1_Silent_p.H113H|GPR112_ENST00000287534.4_Silent_p.H50H|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H113H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCGTCACCACCTGGCTTCAT	0.448																																					p.H113H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	X						.						180.0	161.0	168.0					X																	135405205		2203	4300	6503	135232871	SO:0001819	synonymous_variant	139378	exon5			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.339C>T	X.37:g.135405205C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135232871	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
RAB9A	9367	broad.mit.edu	37	X	13727204	13727204	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:13727204G>A	ENST00000464506.1	+	3	618	c.339G>A	c.(337-339)gaG>gaA	p.E113E	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	113					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E113E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATGTGAAAGAGCCTGAGAGCT	0.443																																					p.E113E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	X						.						101.0	99.0	100.0					X																	13727204		2203	4300	6503	13637125	SO:0001819	synonymous_variant	9367	exon2			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.339G>A	X.37:g.13727204G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13637125	NM_001195328	A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	CCDS14156.1																																																																																				0.443	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251	
GPR112	139378	broad.mit.edu	37	X	135485467	135485467	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:135485467C>T	ENST00000394143.1	+	22	8931	c.8640C>T	c.(8638-8640)agC>agT	p.S2880S	GPR112_ENST00000370652.1_Silent_p.S2880S|GPR112_ENST00000287534.4_Silent_p.S2633S|GPR112_ENST00000394141.1_Silent_p.S2675S|GPR112_ENST00000412101.1_Silent_p.S2675S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2880					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2880S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAACTCTGAGCCCAACAACTC	0.488																																					p.S2880S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8640T	X						.						130.0	87.0	102.0					X																	135485467		2203	4300	6503	135313133	SO:0001819	synonymous_variant	139378	exon22			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8640C>T	X.37:g.135485467C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135313133	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
FGF13	2258	broad.mit.edu	37	X	137715099	137715099	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:137715099C>T	ENST00000315930.6	-	5	1311	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	FGF13_ENST00000370603.3_Missense_Mutation_p.R227Q|FGF13_ENST00000305414.4_Missense_Mutation_p.R164Q|FGF13_ENST00000441825.2_Missense_Mutation_p.R198Q|FGF13_ENST00000541469.1_Missense_Mutation_p.R171Q	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	217					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.R217Q(2)|p.R227Q(2)|p.R164Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCCAGATCGGGAGAACTC	0.517																																					p.R198Q												.	.	5	Substitution - Missense(5)	endometrium(3)|large_intestine(2)	c.G593A	X						.						150.0	118.0	129.0					X																	137715099		2203	4300	6503	137542765	SO:0001583	missense	2258	exon8			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.650G>A	X.37:g.137715099C>T	ENSP00000322390:p.Arg217Gln	Somatic		Capture	Illumina HiSeq	Phase_I	137542765	NM_001139501	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955343	0.73902	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469	T;T;T;T;T	0.80304	-1.15;-1.31;-1.33;-1.36;-1.31	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.84115	0.5401	L	0.43923	1.385	0.80722	D	1	D;D;B;P	0.71674	0.979;0.998;0.286;0.644	P;P;B;B	0.57204	0.503;0.815;0.062;0.095	D	0.84308	0.0509	10	0.49607	T	0.09	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	171;227;164;217	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	Q	217;164;198;227;171	ENSP00000322390:R217Q;ENSP00000303391:R164Q;ENSP00000409276:R198Q;ENSP00000359635:R227Q;ENSP00000437903:R171Q	ENSP00000303391:R164Q	R	-	2	0	FGF13	137542765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	CGA		0.517	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
FGF13	2258	broad.mit.edu	37	X	137793010	137793010	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:137793010G>A	ENST00000315930.6	-	1	817	c.156C>T	c.(154-156)ttC>ttT	p.F52F	FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000438238.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	52	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.F52F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTTGGAGCCGAAGAGTTTGA	0.532																																					p.F52F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	X						.						144.0	128.0	133.0					X																	137793010		2203	4300	6503	137620676	SO:0001819	synonymous_variant	2258	exon1			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.156C>T	X.37:g.137793010G>A		Somatic		Capture	Illumina HiSeq	Phase_I	137620676	NM_004114	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	CCDS14665.1																																																																																				0.532	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
F9	2158	broad.mit.edu	37	X	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	rs137852261		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> L (in THPH8; factor IX Padua; higher specific activity than wild-type). {ECO:0000269|PubMed:19846852}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463																																					p.R384X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|endometrium(1)	c.C1150T	X	GRCh37	CM940671	F9	M	rs137852261	.						113.0	101.0	105.0					X																	138643994		2203	4300	6503	138471660	SO:0001587	stop_gained	2158	exon8			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1150C>T	X.37:g.138643994C>T	ENSP00000218099:p.Arg384*	Somatic		Capture	Illumina HiSeq	Phase_I	138471660	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018508	0.75275	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.66	3.83	0.44106	.	0.451696	0.25654	N	0.029189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5754	0.56362	0.5922:0.4078:0.0:0.0	.	.	.	.	X	384;346	.	ENSP00000218099:R384X	R	+	1	2	F9	138471660	0.003000	0.15002	0.992000	0.48379	0.799000	0.45148	0.769000	0.26604	0.492000	0.27815	0.600000	0.82982	CGA		0.463	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
MCF2	4168	broad.mit.edu	37	X	138708447	138708447	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:138708447C>T	ENST00000370576.4	-	6	801	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MCF2_ENST00000536274.1_Missense_Mutation_p.D159N|MCF2_ENST00000414978.1_Missense_Mutation_p.D258N|MCF2_ENST00000519895.1_Missense_Mutation_p.D258N|MCF2_ENST00000370573.4_Missense_Mutation_p.D198N|MCF2_ENST00000520602.1_Missense_Mutation_p.D258N|MCF2_ENST00000370578.4_Missense_Mutation_p.D343N|MCF2_ENST00000338585.6_Missense_Mutation_p.D198N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	198					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D198N(1)|p.D258N(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTTTCCATATCATGTACTTGA	0.348																																					p.D258N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G772A	X						.						80.0	77.0	78.0					X																	138708447		2202	4299	6501	138536113	SO:0001583	missense	4168	exon9				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.592G>A	X.37:g.138708447C>T	ENSP00000359608:p.Asp198Asn	Somatic		Capture	Illumina HiSeq	Phase_I	138536113	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917308	0.92249	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.92	5.92	0.95590	.	0.091233	0.85682	D	0.000000	T	0.61540	0.2355	L	0.55481	1.735	0.50313	D	0.99986	P;D;B;P;B;P;D;P	0.71674	0.458;0.997;0.149;0.458;0.149;0.458;0.998;0.458	B;D;B;B;B;B;D;B	0.70487	0.212;0.931;0.187;0.15;0.26;0.15;0.969;0.212	T	0.62868	-0.6763	10	0.87932	D	0	.	18.0724	0.89413	0.0:1.0:0.0:0.0	.	258;343;159;198;198;343;198;198	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	N	258;198;159;343;258;258;198;198	ENSP00000427745:D258N;ENSP00000359608:D198N;ENSP00000438155:D159N;ENSP00000359610:D343N;ENSP00000397055:D258N;ENSP00000430276:D258N;ENSP00000359605:D198N;ENSP00000342204:D198N	ENSP00000342204:D198N	D	-	1	0	MCF2	138536113	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	7.250000	0.78287	2.490000	0.84030	0.594000	0.82650	GAT		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
ATP11C	286410	broad.mit.edu	37	X	138908878	138908878	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:138908878T>G	ENST00000327569.3	-	2	239	c.141A>C	c.(139-141)agA>agC	p.R47S	ATP11C_ENST00000370557.1_Missense_Mutation_p.R44S|ATP11C_ENST00000359686.2_Missense_Mutation_p.R47S|ATP11C_ENST00000370543.1_Missense_Mutation_p.R47S|ATP11C_ENST00000361648.2_Missense_Mutation_p.R47S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	47					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R47S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATGAGACTATTCTATTATCAC	0.363																																					p.R47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A141C	X						.						108.0	95.0	99.0					X																	138908878		2203	4300	6503	138736544	SO:0001583	missense	286410	exon2			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.141A>C	X.37:g.138908878T>G	ENSP00000332756:p.Arg47Ser	Somatic		Capture	Illumina HiSeq	Phase_I	138736544	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534375	0.64972	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.5	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	L	0.42686	1.345	0.46725	D	0.999176	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73717	-0.3895	10	0.22109	T	0.4	.	5.3089	0.15819	0.0:0.2244:0.0:0.7756	.	47;47	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	44;47;47;47;47	ENSP00000359588:R44S;ENSP00000355165:R47S;ENSP00000332756:R47S;ENSP00000359574:R47S;ENSP00000352715:R47S	ENSP00000332756:R47S	R	-	3	2	ATP11C	138736544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.172000	0.31908	0.843000	0.35070	0.441000	0.28932	AGA		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
SPANXD	64648	broad.mit.edu	37	X	140785694	140785694	+	Missense_Mutation	SNP	C	C	A	rs138627377	byFrequency	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:140785694C>A	ENST00000370515.3	-	2	555	c.222G>T	c.(220-222)aaG>aaT	p.K74N		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K74N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TGATTCTGTTCTTTCGGGCGT	0.448																																					p.K74N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G222T	X						.	C	ASN/LYS	0,3831		0,0,0,1632,567	212.0	185.0	195.0		222		0.0	X	dbSNP_134	195	1,6699		0,0,1,2428,1843	no	missense	SPANXD	NM_032417.2	94	0,0,1,4060,2410	AA,AC,A,CC,C		0.0149,0.0,0.0095	benign	74/98	140785694	1,10530	2199	4272	6471	140613360	SO:0001583	missense	171489	exon2			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.222G>T	X.37:g.140785694C>A	ENSP00000359546:p.Lys74Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140613360	NM_145665	Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	2.617	-0.289492	0.05605	0.0	1.49E-4	ENSG00000196406	ENST00000370515	T	0.06371	3.31	.	.	.	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37753	-0.9692	6	0.72032	D	0.01	.	.	.	.	.	74	Q9BXN6	SPNXD_HUMAN	N	74	ENSP00000359546:K74N	ENSP00000359546:K74N	K	-	3	2	SPANXD	140613360	0.015000	0.18098	0.006000	0.13384	0.006000	0.05464	0.064000	0.14437	0.068000	0.16574	0.068000	0.15388	AAG		0.448	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1		
MAGEC1	9947	broad.mit.edu	37	X	140993849	140993849	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:140993849G>T	ENST00000285879.4	+	4	945	c.659G>T	c.(658-660)aGa>aTa	p.R220I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	220								p.R220I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGAGAGAACTCAGAGT	0.493										HNSCC(15;0.026)																											p.R220I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659T	X						.						118.0	124.0	122.0					X																	140993849		2203	4292	6495	140821515	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.659G>T	X.37:g.140993849G>T	ENSP00000285879:p.Arg220Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140821515	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.257	-0.616890	0.03663	.	.	ENSG00000155495	ENST00000285879	T	0.02323	4.34	.	.	.	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.46624	-0.9178	8	0.52906	T	0.07	.	2.8327	0.05505	3.0E-4:3.0E-4:0.5007:0.4987	.	220	O60732	MAGC1_HUMAN	I	220	ENSP00000285879:R220I	ENSP00000285879:R220I	R	+	2	0	MAGEC1	140821515	0.000000	0.05858	0.065000	0.19835	0.065000	0.16274	-1.046000	0.03525	0.054000	0.16065	0.054000	0.15206	AGA		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140993954	140993954	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:140993954G>T	ENST00000285879.4	+	4	1050	c.764G>T	c.(763-765)aGa>aTa	p.R255I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	255								p.R255I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCTGAGAGAACTCAGAGT	0.498										HNSCC(15;0.026)																											p.R255I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764T	X						.						67.0	52.0	57.0					X																	140993954		2047	3634	5681	140821620	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.764G>T	X.37:g.140993954G>T	ENSP00000285879:p.Arg255Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140821620	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	N	1.272	-0.612820	0.03690	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.12984	4.34;2.63	.	.	.	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.35375	-0.9791	8	0.56958	D	0.05	.	2.8327	0.05505	3.0E-4:3.0E-4:0.5007:0.4987	.	255	O60732	MAGC1_HUMAN	I	255;57;56	ENSP00000285879:R255I;ENSP00000359542:R57I	ENSP00000285879:R255I	R	+	2	0	MAGEC1	140821620	0.002000	0.14202	0.050000	0.19076	0.050000	0.14768	0.922000	0.28734	0.054000	0.16065	0.054000	0.15206	AGA		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140994421	140994421	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:140994421C>A	ENST00000285879.4	+	4	1517	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	411								p.P411T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTATGACCTC	0.478										HNSCC(15;0.026)																											p.P411T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1231A	X						.						118.0	129.0	125.0					X																	140994421		2199	4291	6490	140822087	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1231C>A	X.37:g.140994421C>A	ENSP00000285879:p.Pro411Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140822087	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	3.124	-0.180002	0.06380	.	.	ENSG00000155495	ENST00000285879	T	0.06687	3.27	.	.	.	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	B	0.39706	0.307	T	0.39231	-0.9624	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	411	O60732	MAGC1_HUMAN	T	411	ENSP00000285879:P411T	ENSP00000285879:P411T	P	+	1	0	MAGEC1	140822087	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	0.080000	0.14802	0.148000	0.19059	0.150000	0.16122	CCT		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
SLITRK4	139065	broad.mit.edu	37	X	142716641	142716641	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:142716641A>C	ENST00000381779.4	-	2	2509	c.2284T>G	c.(2284-2286)Ttt>Gtt	p.F762V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.F762V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.F762V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	762						integral component of membrane (GO:0016021)		p.F762V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCAAGAAAATTCTGAATA	0.368																																					p.F762V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2284G	X						.						108.0	106.0	107.0					X																	142716641		2203	4300	6503	142544307	SO:0001583	missense	139065	exon2			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2284T>G	X.37:g.142716641A>C	ENSP00000371198:p.Phe762Val	Somatic		Capture	Illumina HiSeq	Phase_I	142544307	NM_001184749	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708654	0.48517	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.46451	0.87;0.87;0.87	5.49	5.49	0.81192	.	0.000000	0.85682	U	0.000000	T	0.30792	0.0776	L	0.28274	0.84	0.80722	D	1	B	0.17667	0.023	B	0.14578	0.011	T	0.07347	-1.0777	10	0.27082	T	0.32	-8.0163	13.3335	0.60503	1.0:0.0:0.0:0.0	.	762	Q8IW52	SLIK4_HUMAN	V	762	ENSP00000371198:F762V;ENSP00000349400:F762V;ENSP00000336627:F762V	ENSP00000336627:F762V	F	-	1	0	SLITRK4	142544307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.199000	0.58426	1.831000	0.53308	0.486000	0.48141	TTT		0.368	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
UBE2NL	389898	broad.mit.edu	37	X	142967515	142967515	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:142967515G>A	ENST00000370494.1	+	1	343	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	105						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.V105L(1)|p.V105I(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCGCACAGTTCTGCTATC	0.423																																					p.V105I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G313A	X						.						115.0	99.0	104.0					X																	142967515		2203	4300	6503	142795181	SO:0001583	missense	389898	exon1					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.313G>A	X.37:g.142967515G>A	ENSP00000359525:p.Val105Ile	Somatic		Capture	Illumina HiSeq	Phase_I	142795181	NM_001012989	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	4.958	0.177988	0.09443	.	.	ENSG00000102069	ENST00000370494	T	0.38077	1.16	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.28958	U	0.013587	T	0.26304	0.0642	N	0.22421	0.69	0.58432	D	0.999996	B	0.21452	0.056	B	0.35727	0.209	T	0.09885	-1.0654	10	0.46703	T	0.11	-9.2786	7.9726	0.30136	0.0:0.0:1.0:0.0	.	105	Q5JXB2	UE2NL_HUMAN	I	105	ENSP00000359525:V105I	ENSP00000359525:V105I	V	+	1	0	UBE2NL	142795181	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	6.239000	0.72356	0.899000	0.36444	0.181000	0.17075	GTT		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
SLITRK2	84631	broad.mit.edu	37	X	144905618	144905618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:144905618G>A	ENST00000370490.1	+	1	5930	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	SLITRK2_ENST00000428560.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E559K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	559	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E559K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGACTTGCGAATCTCCTGC	0.498																																					p.E559K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1675A	X						.						61.0	55.0	57.0					X																	144905618		2203	4300	6503	144713310	SO:0001583	missense	84631	exon5			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1675G>A	X.37:g.144905618G>A	ENSP00000359521:p.Glu559Lys	Somatic		Capture	Illumina HiSeq	Phase_I	144713310	NM_001144003	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199163	0.22121	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	Cysteine-rich flanking region, C-terminal (1);	0.056783	0.64402	D	0.000001	T	0.33904	0.0879	N	0.21545	0.675	0.51233	D	0.999914	B	0.19331	0.035	B	0.15484	0.013	T	0.13202	-1.0518	10	0.15499	T	0.54	-9.686	15.6962	0.77502	0.0:0.0:1.0:0.0	.	559	Q9H156	SLIK2_HUMAN	K	559	ENSP00000334374:E559K;ENSP00000411681:E559K;ENSP00000359521:E559K;ENSP00000397015:E559K;ENSP00000407347:E559K;ENSP00000412010:E559K	ENSP00000334374:E559K	E	+	1	0	SLITRK2	144713310	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.869000	0.99810	2.302000	0.77476	0.600000	0.82982	GAA		0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
GLRA2	2742	broad.mit.edu	37	X	14592670	14592670	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:14592670G>T	ENST00000218075.4	+	3	800				GLRA2_ENST00000355020.4_Nonsense_Mutation_p.E87*|GLRA2_ENST00000443437.2_Intron	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.E87*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GTCAATAGCAGAAACTACAAT	0.423																																					p.E87X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G259T	X						.						155.0	129.0	137.0					X																	14592670		1568	3582	5150	14502591	SO:0001627	intron_variant	2742	exon3				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.270+148G>T	X.37:g.14592670G>T		Somatic		Capture	Illumina HiSeq	Phase_I	14502591	NM_001118886	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Nonsense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	39	7.670011	0.98422	.	.	ENSG00000101958	ENST00000355020	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2801	0.90096	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000347123:E87X	E	+	1	0	GLRA2	14502591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.256000	0.74724	0.506000	0.49869	GAA		0.423	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
SLITRK2	84631	broad.mit.edu	37	X	144905745	144905745	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:144905745C>T	ENST00000370490.1	+	1	6057	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S601L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S601L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S601L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S601L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	601			S -> P (in dbSNP:rs2295336).		axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S601L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTCGGTCGCTTAGTGTG	0.438																																					p.S601L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1802T	X						.						101.0	72.0	82.0					X																	144905745		2203	4300	6503	144713437	SO:0001583	missense	84631	exon5			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1802C>T	X.37:g.144905745C>T	ENSP00000359521:p.Ser601Leu	Somatic		Capture	Illumina HiSeq	Phase_I	144713437	NM_001144003	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	9.718	1.158768	0.21454	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52526	0.69;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.397304	0.24740	N	0.035982	T	0.37919	0.1021	L	0.31752	0.955	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.17167	-1.0378	10	0.31617	T	0.26	-5.2045	15.6962	0.77502	0.0:1.0:0.0:0.0	.	601	Q9H156	SLIK2_HUMAN	L	601	ENSP00000334374:S601L;ENSP00000411681:S601L;ENSP00000359521:S601L;ENSP00000397015:S601L;ENSP00000407347:S601L;ENSP00000412010:S601L	ENSP00000334374:S601L	S	+	2	0	SLITRK2	144713437	0.002000	0.14202	0.674000	0.29902	0.832000	0.47134	0.898000	0.28404	2.302000	0.77476	0.600000	0.82982	TCG		0.438	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
FMR1NB	158521	broad.mit.edu	37	X	147063030	147063030	+	Silent	SNP	G	G	A	rs151160499		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:147063030G>A	ENST00000370467.3	+	1	182	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	36						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.S36S(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGAGTCGAATCCCGAGA	0.567																																					p.S36S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	X						.						104.0	82.0	90.0					X																	147063030		2203	4300	6503	146870722	SO:0001819	synonymous_variant	158521	exon1				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.108G>A	X.37:g.147063030G>A		Somatic		Capture	Illumina HiSeq	Phase_I	146870722	NM_152578	D3DWT3	Silent	SNP	ENST00000370467.3	37	CCDS14683.1																																																																																				0.567	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
FANCB	2187	broad.mit.edu	37	X	14882986	14882986	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:14882986G>A	ENST00000324138.3	-	2	800	c.647C>T	c.(646-648)tCt>tTt	p.S216F	FANCB_ENST00000398334.1_Missense_Mutation_p.S216F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	216					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.S216F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTTTCAAGAGAATATACACA	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S216F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	X						.						71.0	74.0	73.0					X																	14882986		2203	4296	6499	14792907	SO:0001583	missense	2187	exon3	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.647C>T	X.37:g.14882986G>A	ENSP00000326819:p.Ser216Phe	Somatic		Capture	Illumina HiSeq	Phase_I	14792907	NM_001018113	B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458052	0.12342	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03496	3.91;3.91;3.91	5.56	2.83	0.33086	.	0.482693	0.25361	N	0.031222	T	0.04318	0.0119	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.34800	-0.9814	10	0.87932	D	0	-3.9123	7.2182	0.25971	0.069:0.121:0.6813:0.1287	.	216	Q8NB91	FANCB_HUMAN	F	216	ENSP00000326819:S216F;ENSP00000381378:S216F;ENSP00000397849:S216F	ENSP00000326819:S216F	S	-	2	0	FANCB	14792907	0.881000	0.30235	0.002000	0.10522	0.588000	0.36517	3.258000	0.51507	0.237000	0.21200	-1.074000	0.02243	TCT		0.328	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633	
AFF2	2334	broad.mit.edu	37	X	148068917	148068917	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:148068917C>A	ENST00000370460.2	+	20	4123	c.3644C>A	c.(3643-3645)tCt>tAt	p.S1215Y	AFF2_ENST00000342251.3_Missense_Mutation_p.S1182Y|AFF2_ENST00000286437.5_Missense_Mutation_p.S856Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S1180Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1215					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S856Y(1)|p.S1215Y(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGTGTCTCTCAACAAC	0.547																																					p.S856Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2567A	X						.						210.0	149.0	170.0					X																	148068917		2203	4300	6503	147876623	SO:0001583	missense	2334	exon17			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3644C>A	X.37:g.148068917C>A	ENSP00000359489:p.Ser1215Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	147876623	NM_001170628	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058245	0.76074	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.73	4.86	0.63082	.	0.216900	0.40302	N	0.001137	D	0.88426	0.6433	M	0.84219	2.685	0.47698	D	0.999491	P;P;P;D;D;D	0.76494	0.953;0.947;0.889;0.999;0.999;0.999	D;P;P;D;D;D	0.72982	0.923;0.771;0.69;0.964;0.964;0.979	D	0.89262	0.3598	10	0.52906	T	0.07	.	15.8836	0.79222	0.0:0.868:0.132:0.0	.	856;1180;1180;1176;1205;1215	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1215;1180;1182;856	ENSP00000359489:S1215Y;ENSP00000359486:S1180Y;ENSP00000345459:S1182Y;ENSP00000286437:S856Y	ENSP00000286437:S856Y	S	+	2	0	AFF2	147876623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.492000	0.66893	1.171000	0.42768	0.594000	0.82650	TCT		0.547	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MTM1	4534	broad.mit.edu	37	X	149814261	149814261	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:149814261G>A	ENST00000370396.2	+	9	838	c.784G>A	c.(784-786)Gat>Aat	p.D262N	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.D225N|MTM1_ENST00000543350.1_Missense_Mutation_p.D147N|MTM1_ENST00000542741.1_Missense_Mutation_p.D167N	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	262	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.D262N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATATCTCGATGTTATCAG	0.408																																					p.D262N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	X						.						165.0	138.0	147.0					X																	149814261		2203	4300	6503	149564919	SO:0001583	missense	4534	exon9			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.784G>A	X.37:g.149814261G>A	ENSP00000359423:p.Asp262Asn	Somatic		Capture	Illumina HiSeq	Phase_I	149564919	NM_000252	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555371	0.45487	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.93	5.93	0.95920	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	N	0.11818	0.18	0.43994	D	0.99669	B;B	0.18968	0.005;0.032	B;B	0.16289	0.007;0.015	T	0.76313	-0.3005	10	0.51188	T	0.08	.	19.2929	0.94110	0.0:0.0:1.0:0.0	.	225;262	B7Z491;Q13496	.;MTM1_HUMAN	N	262;167;147;225	ENSP00000359423:D262N;ENSP00000444015:D167N;ENSP00000439784:D147N;ENSP00000389157:D225N	ENSP00000359423:D262N	D	+	1	0	MTM1	149564919	1.000000	0.71417	0.050000	0.19076	0.665000	0.39181	3.280000	0.51677	2.508000	0.84585	0.594000	0.82650	GAT		0.408	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
PASD1	139135	broad.mit.edu	37	X	150842457	150842457	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:150842457C>A	ENST00000370357.4	+	15	2219	c.1974C>A	c.(1972-1974)acC>acA	p.T658T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	658						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T658T(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATAGATACCTCAAACTCTG	0.483																																					p.T658T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1974A	X						.						121.0	103.0	109.0					X																	150842457		2203	4300	6503	150593113	SO:0001819	synonymous_variant	139135	exon15			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1974C>A	X.37:g.150842457C>A		Somatic		Capture	Illumina HiSeq	Phase_I	150593113	NM_173493	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																				0.483	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
MAGEA10	4109	broad.mit.edu	37	X	151303450	151303450	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:151303450G>A	ENST00000370323.4	-	4	959	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L215L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	215	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.L215L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCACTCAGCATCCCATCA	0.522																																					p.L215L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C643T	X						.						73.0	68.0	70.0					X																	151303450		2203	4300	6503	151054106	SO:0001819	synonymous_variant	4109	exon4				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.643C>T	X.37:g.151303450G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151054106	NM_021048		Silent	SNP	ENST00000370323.4	37	CCDS14705.1																																																																																				0.522	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048	
MAGEA10	4109	broad.mit.edu	37	X	151304046	151304046	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:151304046A>C	ENST00000370323.4	-	4	363	c.47T>G	c.(46-48)cTt>cGt	p.L16R	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.L16R	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	16						nucleus (GO:0005634)		p.L16R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGATTGAAGATCTTCTTC	0.577																																					p.L16R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47G	X						.						83.0	86.0	85.0					X																	151304046		2202	4299	6501	151054702	SO:0001583	missense	4109	exon4				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.47T>G	X.37:g.151304046A>C	ENSP00000359347:p.Leu16Arg	Somatic		Capture	Illumina HiSeq	Phase_I	151054702	NM_021048		Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	A	7.659	0.684487	0.14973	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	2.54	-5.08	0.02929	Melanoma associated antigen, MAGE, N-terminal (1);	2.780480	0.01768	N	0.031026	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	P	0.40660	0.726	P	0.46510	0.519	T	0.16837	-1.0389	10	0.19147	T	0.46	.	0.8118	0.01095	0.1835:0.1642:0.1642:0.488	.	16	P43363	MAGAA_HUMAN	R	16	ENSP00000359347:L16R;ENSP00000244096:L16R;ENSP00000406161:L16R;ENSP00000391977:L16R	ENSP00000244096:L16R	L	-	2	0	MAGEA10	151054702	0.000000	0.05858	0.000000	0.03702	0.561000	0.35649	-0.949000	0.03893	-1.863000	0.01150	0.242000	0.17961	CTT		0.577	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048	
ABCD1	215	broad.mit.edu	37	X	152994810	152994810	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:152994810T>C	ENST00000218104.3	+	2	1423	c.1024T>C	c.(1024-1026)Tcg>Ccg	p.S342P	ABCD1_ENST00000370129.4_Missense_Mutation_p.S157P	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	342	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		S -> P (in ALD; AMN-type).		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S342P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGCGCCTCGGGCCTGCT	0.592																																					p.S342P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1024C	X	GRCh37	CM950046	ABCD1	M		.						152.0	109.0	124.0					X																	152994810		2203	4300	6503	152648004	SO:0001583	missense	215	exon2			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1024T>C	X.37:g.152994810T>C	ENSP00000218104:p.Ser342Pro	Somatic		Capture	Illumina HiSeq	Phase_I	152648004	NM_000033	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	t	17.42	3.386390	0.61956	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99619	-6.28;-6.28	5.46	5.46	0.80206	ABC transporter, N-terminal (1);	0.150396	0.46145	D	0.000319	D	0.99296	0.9754	L	0.59436	1.845	0.45087	D	0.998109	D	0.63046	0.992	D	0.66497	0.944	D	0.98802	1.0740	10	0.52906	T	0.07	-13.0035	10.0851	0.42412	0.0:0.0:0.1661:0.8339	.	342	P33897	ABCD1_HUMAN	P	342;157	ENSP00000218104:S342P;ENSP00000359147:S157P	ENSP00000218104:S342P	S	+	1	0	ABCD1	152648004	0.997000	0.39634	0.903000	0.35520	0.926000	0.56050	2.538000	0.45710	1.824000	0.53156	0.427000	0.28365	TCG		0.592	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
ARHGAP4	393	broad.mit.edu	37	X	153178188	153178188	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:153178188C>A	ENST00000350060.5	-	12	1549	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R482I|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R480I|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R325I|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R543I|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	503					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.R503I(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAAGAGTCTCTGGTTATA	0.562																																					p.R543I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1628T	X						.						105.0	107.0	106.0					X																	153178188		2203	4300	6503	152831382	SO:0001583	missense	393	exon13			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1508G>T	X.37:g.153178188C>A	ENSP00000203786:p.Arg503Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152831382	NM_001164741	Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061586|4.061586	0.76187|0.76187	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000442172|ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	.|T;T;T;T;T	.|0.54071	.|0.59;0.59;0.59;0.59;0.59	5.46|5.46	4.43|4.43	0.53597|0.53597	.|Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	.|0.135832	.|0.34088	.|N	.|0.004270	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.40543|0.40543	1.245|1.245	0.50467|0.50467	D|D	0.999877|0.999877	.|P;P	.|0.45634	.|0.863;0.523	.|P;B	.|0.44477	.|0.451;0.193	T|T	0.41875|0.41875	-0.9484|-0.9484	5|10	.|0.72032	.|D	.|0.01	.|.	5.0622|5.0622	0.14562|0.14562	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|543;503	.|Q86UY3;P98171	.|.;RHG04_HUMAN	Y|I	18|325;543;503;482;480	.|ENSP00000377322:R325I;ENSP00000359045:R543I;ENSP00000203786:R503I;ENSP00000359033:R482I;ENSP00000444169:R480I	.|ENSP00000203786:R503I	D|R	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152831382|152831382	0.968000|0.968000	0.33430|0.33430	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	1.469000|1.469000	0.35343|0.35343	0.901000|0.901000	0.36495|0.36495	0.525000|0.525000	0.51046|0.51046	GAC|AGA		0.562	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	
GAB3	139716	broad.mit.edu	37	X	153908449	153908449	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:153908449G>A	ENST00000369575.3	-	9	1635	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.A536V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	535					macrophage differentiation (GO:0030225)			p.A535V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGTCCAGGGCCAAATAATC	0.507																																					p.A536V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1607T	X						.						194.0	186.0	189.0					X																	153908449		2203	4300	6503	153561643	SO:0001583	missense	139716	exon9			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1604C>T	X.37:g.153908449G>A	ENSP00000358588:p.Ala535Val	Somatic		Capture	Illumina HiSeq	Phase_I	153561643	NM_001081573	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969197	0.92855	.	.	ENSG00000160219	ENST00000369575;ENST00000424127	T;T	0.29655	1.56;1.88	5.36	5.36	0.76844	.	0.056553	0.64402	D	0.000001	T	0.59376	0.2189	M	0.84219	2.685	0.47374	D	0.999406	D;D	0.89917	1.0;1.0	D;D	0.83275	0.972;0.996	T	0.64681	-0.6350	10	0.59425	D	0.04	-18.2571	15.4194	0.75000	0.0:0.0:1.0:0.0	.	536;535	E9PB44;Q8WWW8	.;GAB3_HUMAN	V	535;536	ENSP00000358588:A535V;ENSP00000399588:A536V	ENSP00000358588:A535V	A	-	2	0	GAB3	153561643	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.144000	0.89623	2.232000	0.73038	0.506000	0.49869	GCC		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	
MPP1	4354	broad.mit.edu	37	X	154007499	154007499	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:154007499G>T	ENST00000369534.3	-	12	1501	c.1354C>A	c.(1354-1356)Caa>Aaa	p.Q452K	MPP1_ENST00000413259.3_Missense_Mutation_p.Q422K|MPP1_ENST00000393531.1_Missense_Mutation_p.Q432K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	452	Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Q452K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCACGCTTGGTCGAAGGCT	0.502																																					p.Q452K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1354A	X						.						122.0	94.0	103.0					X																	154007499		2203	4300	6503	153660693	SO:0001583	missense	4354	exon12				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1354C>A	X.37:g.154007499G>T	ENSP00000358547:p.Gln452Lys	Somatic		Capture	Illumina HiSeq	Phase_I	153660693	NM_002436	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	G	0.204	-1.042533	0.01997	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.39997	1.05;1.05;1.05	5.76	5.76	0.90799	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.440664	0.25916	N	0.027470	T	0.23330	0.0564	N	0.13327	0.33	0.09310	N	1	B;B;B;B	0.14012	0.009;0.0;0.0;0.0	B;B;B;B	0.11329	0.006;0.004;0.002;0.002	T	0.14615	-1.0466	10	0.02654	T	1	.	13.1228	0.59336	0.0:0.1565:0.8435:0.0	.	435;422;432;452	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	452;422;432	ENSP00000358547:Q452K;ENSP00000400155:Q422K;ENSP00000377165:Q432K	ENSP00000358547:Q452K	Q	-	1	0	MPP1	153660693	0.717000	0.27966	0.177000	0.23020	0.639000	0.38242	4.095000	0.57728	2.421000	0.82119	0.600000	0.82982	CAA		0.502	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436	
F8	2157	broad.mit.edu	37	X	154088801	154088801	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:154088801G>T	ENST00000360256.4	-	25	7006	c.6806C>A	c.(6805-6807)tCt>tAt	p.S2269Y	F8_ENST00000330287.6_Missense_Mutation_p.S134Y	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2269	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S2269Y(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTAAGCAGAGATTTTACTCC	0.443																																					p.S2269Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C6806A	X						.						162.0	140.0	147.0					X																	154088801		2203	4300	6503	153741995	SO:0001583	missense	2157	exon25			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6806C>A	X.37:g.154088801G>T	ENSP00000353393:p.Ser2269Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	153741995	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354918	0.61293	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98419	-4.92;-4.92	5.33	3.55	0.40652	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.242538	0.43110	D	0.000607	D	0.98343	0.9450	M	0.70275	2.135	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.98214	1.0474	10	0.66056	D	0.02	-13.5887	8.3699	0.32408	0.1958:0.0:0.8042:0.0	.	2269;134	P00451;Q14286	FA8_HUMAN;.	Y	134;2269	ENSP00000327895:S134Y;ENSP00000353393:S2269Y	ENSP00000327895:S134Y	S	-	2	0	F8	153741995	0.269000	0.24143	1.000000	0.80357	0.977000	0.68977	2.762000	0.47597	1.032000	0.39892	0.544000	0.68410	TCT		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154158674	154158674	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:154158674T>C	ENST00000360256.4	-	14	3591	c.3391A>G	c.(3391-3393)Act>Gct	p.T1131A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1131	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.T1131A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCATGAGTCCTTTGTATC	0.438																																					p.T1131A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3391G	X						.						64.0	64.0	64.0					X																	154158674		2203	4298	6501	153811868	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3391A>G	X.37:g.154158674T>C	ENSP00000353393:p.Thr1131Ala	Somatic		Capture	Illumina HiSeq	Phase_I	153811868	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	1.142	-0.649277	0.03506	.	.	ENSG00000185010	ENST00000360256	D	0.99051	-5.37	5.47	2.99	0.34606	.	0.678176	0.14362	N	0.324345	D	0.96549	0.8874	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	D	0.91620	0.5310	10	0.34782	T	0.22	-0.269	5.578	0.17235	0.1738:0.0:0.1776:0.6487	.	1131	P00451	FA8_HUMAN	A	1131	ENSP00000353393:T1131A	ENSP00000353393:T1131A	T	-	1	0	F8	153811868	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.254000	0.18314	0.214000	0.20742	0.483000	0.47432	ACT		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154159625	154159625	+	Nonsense_Mutation	SNP	G	G	A	rs137852437		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:154159625G>A	ENST00000360256.4	-	14	2640	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	814	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R814*(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGACTCTGTCGCAAGAGCATC	0.418																																					p.R814X												.	.	5	Substitution - Nonsense(5)	large_intestine(5)	c.C2440T	X	GRCh37	CM900090	F8	M	rs137852437	.						211.0	195.0	200.0					X																	154159625		2203	4299	6502	153812819	SO:0001587	stop_gained	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2440C>T	X.37:g.154159625G>A	ENSP00000353393:p.Arg814*	Somatic		Capture	Illumina HiSeq	Phase_I	153812819	NM_000132	Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935478	0.97122	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.37	1.56	0.23342	.	1.373530	0.04059	N	0.306041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.8004	5.4333	0.16466	0.0:0.5907:0.1467:0.2626	.	.	.	.	X	814	.	ENSP00000353393:R814X	R	-	1	2	F8	153812819	0.307000	0.24500	0.800000	0.32199	0.008000	0.06430	0.630000	0.24553	0.129000	0.18514	-0.368000	0.07277	CGA		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
ZBED1	9189	broad.mit.edu	37	X	2406844	2406844	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:2406844C>T	ENST00000381223.4	-	2	2120	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	ZBED1_ENST00000515319.1_5'UTR|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.A639A|ZBED1_ENST00000381218.3_Silent_p.A639A	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	639					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.A639A(2)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CGTCCACGTGCGCGGGAGCCA	0.682																																					p.A639A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1917A	X						.						97.0	102.0	100.0					X																	2406844		2203	4296	6499	2416844	SO:0001819	synonymous_variant	9189	exon2			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1917G>A	X.37:g.2406844C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2416844	NM_004729	Q96BY4	Silent	SNP	ENST00000381223.4	37	CCDS14118.1																																																																																				0.682	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729	
XG	7499	broad.mit.edu	37	X	2688596	2688596	+	Silent	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:2688596A>C	ENST00000381174.5	+	2	292	c.67A>C	c.(67-69)Aga>Cga	p.R23R	XG_ENST00000426774.1_Silent_p.R23R|XG_ENST00000419513.2_Silent_p.R23R			P55808	XG_HUMAN	Xg blood group	23						integral component of plasma membrane (GO:0005887)		p.R23R(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATAGGTCAAAGAGACTTTGA	0.512																																					p.R23R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A67C	X						.						283.0	247.0	259.0					X																	2688596		2203	4296	6499	2698596	SO:0001819	synonymous_variant	7499	exon2			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.67A>C	X.37:g.2688596A>C		Somatic		Capture	Illumina HiSeq	Phase_I	2698596	NM_001141919	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Silent	SNP	ENST00000381174.5	37	CCDS14120.1																																																																																				0.512	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569	
ARSF	416	broad.mit.edu	37	X	3030225	3030225	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:3030225T>G	ENST00000381127.1	+	11	1622	c.1401T>G	c.(1399-1401)gtT>gtG	p.V467V	ARSF_ENST00000359361.2_Silent_p.V467V|ARSF_ENST00000537104.1_Silent_p.V467V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	467					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V467V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GTGGGTCAGTTTGGAAGGCTC	0.512																																					p.V467V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1401G	X						.						50.0	49.0	49.0					X																	3030225		2203	4300	6503	3040225	SO:0001819	synonymous_variant	416	exon11			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1401T>G	X.37:g.3030225T>G		Somatic		Capture	Illumina HiSeq	Phase_I	3040225	NM_004042	Q8TCC5	Silent	SNP	ENST00000381127.1	37	CCDS14123.1																																																																																				0.512	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
MXRA5	25878	broad.mit.edu	37	X	3227963	3227963	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:3227963G>A	ENST00000217939.6	-	7	8435	c.8281C>T	c.(8281-8283)Ccc>Tcc	p.P2761S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2761	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)		p.P2761S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGCTTTGGGAATCCCCATA	0.572																																					p.P2761S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8281T	X						.						119.0	97.0	104.0					X																	3227963		2203	4300	6503	3237963	SO:0001583	missense	25878	exon7			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8281C>T	X.37:g.3227963G>A	ENSP00000217939:p.Pro2761Ser	Somatic		Capture	Illumina HiSeq	Phase_I	3237963	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810341	0.50421	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.97791	-4.54	4.32	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40064	U	0.001199	D	0.99306	0.9757	H	0.98866	4.355	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.98455	1.0593	10	0.66056	D	0.02	.	16.4192	0.83753	0.0:0.0:1.0:0.0	.	2761	Q9NR99	MXRA5_HUMAN	S	2761	ENSP00000217939:P2761S	ENSP00000217939:P2761S	P	-	1	0	MXRA5	3237963	1.000000	0.71417	0.182000	0.23118	0.095000	0.18619	8.400000	0.90200	1.782000	0.52362	0.502000	0.49764	CCC		0.572	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3229424	3229424	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:3229424C>T	ENST00000217939.6	-	7	6974	c.6820G>A	c.(6820-6822)Gag>Aag	p.E2274K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2274	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.E2274K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGATCTCGGGATTGGGA	0.567																																					p.E2274K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6820A	X						.						65.0	59.0	61.0					X																	3229424		2203	4300	6503	3239424	SO:0001583	missense	25878	exon7			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6820G>A	X.37:g.3229424C>T	ENSP00000217939:p.Glu2274Lys	Somatic		Capture	Illumina HiSeq	Phase_I	3239424	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340303	0.41398	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67698	-0.28	4.28	3.41	0.39046	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.190468	0.25238	U	0.032116	T	0.68274	0.2983	L	0.35414	1.06	0.34358	D	0.690672	D	0.65815	0.995	P	0.60415	0.874	T	0.74621	-0.3604	10	0.44086	T	0.13	.	11.8364	0.52327	0.0:0.911:0.0:0.089	.	2274	Q9NR99	MXRA5_HUMAN	K	2274	ENSP00000217939:E2274K	ENSP00000217939:E2274K	E	-	1	0	MXRA5	3239424	0.998000	0.40836	0.474000	0.27266	0.083000	0.17756	3.901000	0.56303	0.653000	0.30826	0.509000	0.49947	GAG		0.567	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3240192	3240192	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:3240192C>A	ENST00000217939.6	-	5	3688	c.3534G>T	c.(3532-3534)gaG>gaT	p.E1178D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1178						extracellular vesicular exosome (GO:0070062)		p.E1178D(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGAAAAAGTCTCTGATGGGG	0.483																																					p.E1178D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3534T	X						.						115.0	117.0	116.0					X																	3240192		2203	4300	6503	3250192	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3534G>T	X.37:g.3240192C>A	ENSP00000217939:p.Glu1178Asp	Somatic		Capture	Illumina HiSeq	Phase_I	3250192	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	5.841	0.339329	0.11069	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67171	-0.25	3.61	-0.436	0.12275	.	0.362815	0.19541	N	0.111790	T	0.39733	0.1089	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11421	-1.0588	10	0.30854	T	0.27	.	1.3356	0.02144	0.1379:0.3477:0.2668:0.2475	.	1178	Q9NR99	MXRA5_HUMAN	D	1178	ENSP00000217939:E1178D	ENSP00000217939:E1178D	E	-	3	2	MXRA5	3250192	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.149000	0.10204	-0.719000	0.04942	0.519000	0.50382	GAG		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3240874	3240874	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:3240874G>A	ENST00000217939.6	-	5	3006	c.2852C>T	c.(2851-2853)tCg>tTg	p.S951L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	951						extracellular vesicular exosome (GO:0070062)		p.S951L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTGGTGACGATCCAACATC	0.502																																					p.S951L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2852T	X						.						116.0	82.0	94.0					X																	3240874		2203	4300	6503	3250874	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2852C>T	X.37:g.3240874G>A	ENSP00000217939:p.Ser951Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3250874	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	9.556	1.117081	0.20795	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.22	1.16	0.20824	.	0.941137	0.08697	U	0.906990	T	0.30198	0.0757	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.22880	0.042	T	0.27806	-1.0063	10	0.66056	D	0.02	.	2.1763	0.03863	0.339:0.3152:0.3457:0.0	.	951	Q9NR99	MXRA5_HUMAN	L	951	ENSP00000217939:S951L	ENSP00000217939:S951L	S	-	2	0	MXRA5	3250874	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.453000	0.21811	1.384000	0.46424	0.529000	0.55759	TCG		0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NLGN4X	57502	broad.mit.edu	37	X	5821528	5821528	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:5821528G>T	ENST00000381095.3	-	5	1818	c.1191C>A	c.(1189-1191)ttC>ttA	p.F397L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.F397L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F417L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F397L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F397L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	397					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.F397L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGACACGGAGAAGTCAAAGT	0.537																																					p.F397L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1191A	X						.						8.0	9.0	8.0					X																	5821528		2106	4144	6250	5831528	SO:0001583	missense	57502	exon5			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1191C>A	X.37:g.5821528G>T	ENSP00000370485:p.Phe397Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5831528	NM_181332	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445663	0.25987	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.35566	0.0936	N	0.10760	0.04	0.46260	D	0.998955	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.18263	0.021;0.005;0.007	T	0.14392	-1.0474	8	.	.	.	.	5.5621	0.17150	0.2572:0.0:0.7428:0.0	.	454;397;417	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	397;417;397;397;397	ENSP00000370485:F397L;ENSP00000370483:F417L;ENSP00000275857:F397L;ENSP00000370482:F397L;ENSP00000439203:F397L	.	F	-	3	2	NLGN4X	5831528	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.213000	0.42844	1.579000	0.49836	0.600000	0.82982	TTC		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
KAL1	3730	broad.mit.edu	37	X	8565162	8565162	+	Missense_Mutation	SNP	C	C	T	rs199725550		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:8565162C>T	ENST00000262648.3	-	4	603	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	152	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E152K(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TTGTCAACTTCGCAGCTTTCA	0.522													C|||	1	0.000264901	0.0	0.0	3775	,	,		11482	0.0		0.001	False		,,,				2504	0.0				p.E152K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	X						.						85.0	69.0	75.0					X																	8565162		2203	4300	6503	8525162	SO:0001583	missense	3730	exon4				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.454G>A	X.37:g.8565162C>T	ENSP00000262648:p.Glu152Lys	Somatic		Capture	Illumina HiSeq	Phase_I	8525162	NM_000216	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.961681	0.74016	.	.	ENSG00000011201	ENST00000262648	T	0.70749	-0.51	4.51	3.61	0.41365	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.166868	0.51477	D	0.000081	T	0.71995	0.3406	L	0.27053	0.805	0.41102	D	0.985672	D	0.67145	0.996	D	0.65140	0.932	T	0.72304	-0.4333	10	0.51188	T	0.08	-16.0911	12.0565	0.53538	0.1734:0.8266:0.0:0.0	.	152	P23352	KALM_HUMAN	K	152	ENSP00000262648:E152K	ENSP00000262648:E152K	E	-	1	0	KAL1	8525162	1.000000	0.71417	0.001000	0.08648	0.912000	0.54170	4.919000	0.63383	0.683000	0.31428	0.600000	0.82982	GAA		0.522	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	
FRMPD4	9758	broad.mit.edu	37	X	12693037	12693037	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:12693037C>A	ENST00000380682.1	+	5	974					NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.?(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTAAGTGTTCTGTGAATAAA	0.388																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						181.0	158.0	165.0					X																	12693037		2203	4300	6503	12602958	SO:0001627	intron_variant	9758	.			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.468+10C>A	X.37:g.12693037C>A		Somatic		Capture	Illumina HiSeq	Phase_I	12602958	.	A8K0X9|O15032	Intron	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.388	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
EGFL6	25975	broad.mit.edu	37	X	13637364	13637364	+	Splice_Site	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:13637364T>G	ENST00000361306.1	+	9	1440		c.e9+2		EGFL6_ENST00000380602.3_Splice_Site	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AACATAAAGGTAAATAATTCT	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						104.0	94.0	97.0					X																	13637364		2203	4300	6503	13547285	SO:0001630	splice_region_variant	25975	.			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1183+2T>G	X.37:g.13637364T>G		Somatic		Capture	Illumina HiSeq	Phase_I	13547285	.	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Splice_Site	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379415	0.24944	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6982	0.51556	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGFL6	13547285	1.000000	0.71417	0.887000	0.34795	0.073000	0.16967	4.848000	0.62874	1.693000	0.51124	0.432000	0.28606	.		0.393	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	Intron
ACE2	59272	broad.mit.edu	37	X	15588432	15588432	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:15588432G>A	ENST00000252519.3	-	14	1984	c.1882C>T	c.(1882-1884)Ctt>Ttt	p.L628F	ACE2_ENST00000427411.1_Missense_Mutation_p.L628F			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	628					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.L628F(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TTATCTCCAAGAGCTGATTTT	0.393																																					p.L628F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1882T	X						.						228.0	182.0	197.0					X																	15588432		2203	4300	6503	15498353	SO:0001583	missense	59272	exon15			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1882C>T	X.37:g.15588432G>A	ENSP00000252519:p.Leu628Phe	Somatic		Capture	Illumina HiSeq	Phase_I	15498353	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041458	0.35989	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.47869	0.83;0.83	5.57	4.69	0.59074	.	0.122388	0.64402	D	0.000020	T	0.51669	0.1688	M	0.83223	2.63	0.35303	D	0.783168	B	0.23854	0.092	B	0.28139	0.086	T	0.63391	-0.6648	10	0.52906	T	0.07	-20.7739	10.4318	0.44411	0.0917:0.0:0.9083:0.0	.	628	Q9BYF1	ACE2_HUMAN	F	628	ENSP00000252519:L628F;ENSP00000389326:L628F	ENSP00000252519:L628F	L	-	1	0	ACE2	15498353	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	1.780000	0.38634	2.466000	0.83321	0.594000	0.82650	CTT		0.393	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
ZRSR2	8233	broad.mit.edu	37	X	15840963	15840963	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:15840963T>C	ENST00000307771.7	+	11	1071	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	349					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)	p.S349S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCTACTTGTCTCCAGATCGGA	0.488			"""F, S, Mis"""		"""MDS, CLL"""																																p.S349S	NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1047C	X						.						64.0	60.0	61.0					X																	15840963		2202	4300	6502	15750884	SO:0001819	synonymous_variant	8233	exon11			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1047T>C	X.37:g.15840963T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15750884	NM_005089	Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																				0.488	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	
GRPR	2925	broad.mit.edu	37	X	16168590	16168590	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:16168590C>A	ENST00000380289.2	+	2	974	c.576C>A	c.(574-576)acC>acA	p.T192T	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	192					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.T192T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCAACCAGACCTTCATTAGCT	0.498																																					p.T192T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576A	X						.						229.0	171.0	191.0					X																	16168590		2203	4300	6503	16078511	SO:0001819	synonymous_variant	2925	exon2				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.576C>A	X.37:g.16168590C>A		Somatic		Capture	Illumina HiSeq	Phase_I	16078511	NM_005314	B2R910	Silent	SNP	ENST00000380289.2	37	CCDS14174.1																																																																																				0.498	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
TXLNG	55787	broad.mit.edu	37	X	16850756	16850756	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:16850756A>C	ENST00000380122.5	+	6	936	c.875A>C	c.(874-876)aAg>aCg	p.K292T	TXLNG_ENST00000398155.4_Missense_Mutation_p.K160T	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	292					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.K292T(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						CACATTGATAAGGTGTTCAAA	0.448																																					p.K292T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A875C	X						.						189.0	161.0	171.0					X																	16850756		2203	4300	6503	16760677	SO:0001583	missense	55787	exon6			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.875A>C	X.37:g.16850756A>C	ENSP00000369465:p.Lys292Thr	Somatic		Capture	Illumina HiSeq	Phase_I	16760677	NM_018360	Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362620	0.82353	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.35236	1.32;1.32	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.80183	2.485	0.80722	D	1	P;P	0.48407	0.819;0.91	P;P	0.56088	0.594;0.791	T	0.62613	-0.6817	10	0.62326	D	0.03	-20.5086	14.0082	0.64478	1.0:0.0:0.0:0.0	.	160;292	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	T	292;160	ENSP00000369465:K292T;ENSP00000381222:K160T	ENSP00000369465:K292T	K	+	2	0	TXLNG	16760677	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.339000	0.96797	1.683000	0.51011	0.486000	0.48141	AAG		0.448	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360	
RBBP7	5931	broad.mit.edu	37	X	16870700	16870700	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:16870700C>T	ENST00000380087.2	-	8	1297	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E304K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E357K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	313					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.E313K(2)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTATGAGATTCGAAGGTATGG	0.343																																					p.E313K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G937A	X						.						63.0	59.0	60.0					X																	16870700		2203	4300	6503	16780621	SO:0001583	missense	5931	exon8			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.937G>A	X.37:g.16870700C>T	ENSP00000369427:p.Glu313Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16780621	NM_002893	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354446	0.82243	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;0.24	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.31845	0.965	0.80722	D	1	B;B;B	0.21452	0.056;0.035;0.028	B;B;B	0.21708	0.014;0.036;0.014	T	0.54437	-0.8294	10	0.72032	D	0.01	1.2052	17.6398	0.88132	0.0:1.0:0.0:0.0	.	304;313;357	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	313;357;304;117	ENSP00000369427:E313K;ENSP00000369424:E357K;ENSP00000386068:E304K;ENSP00000402796:E117K	ENSP00000369424:E357K	E	-	1	0	RBBP7	16780621	1.000000	0.71417	0.655000	0.29622	0.980000	0.70556	7.772000	0.85439	2.469000	0.83416	0.594000	0.82650	GAA		0.343	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
RBBP7	5931	broad.mit.edu	37	X	16870937	16870937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:16870937C>T	ENST00000380087.2	-	7	1180	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E265K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E318K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	274					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.E274K(2)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CAGTTGACTTCGGCAGTGTGC	0.483																																					p.E274K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G820A	X						.						148.0	139.0	142.0					X																	16870937		2203	4300	6503	16780858	SO:0001583	missense	5931	exon7			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.820G>A	X.37:g.16870937C>T	ENSP00000369427:p.Glu274Lys	Somatic		Capture	Illumina HiSeq	Phase_I	16780858	NM_002893	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634932	0.87760	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	L	0.42245	1.32	0.80722	D	1	P;P;P	0.39535	0.53;0.677;0.506	B;B;B	0.35510	0.086;0.196;0.204	T	0.59215	-0.7496	10	0.87932	D	0	-10.6354	17.084	0.86605	0.0:1.0:0.0:0.0	.	265;274;318	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	274;318;265;78;194	ENSP00000369427:E274K;ENSP00000369424:E318K;ENSP00000386068:E265K;ENSP00000402796:E78K;ENSP00000392714:E194K	ENSP00000369424:E318K	E	-	1	0	RBBP7	16780858	1.000000	0.71417	0.934000	0.37439	0.985000	0.73830	7.772000	0.85439	2.330000	0.79161	0.600000	0.82982	GAA		0.483	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
REPS2	9185	broad.mit.edu	37	X	17024395	17024395	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:17024395T>C	ENST00000357277.3	+	2	496	c.325T>C	c.(325-327)Ttt>Ctt	p.F109L	REPS2_ENST00000303843.7_Missense_Mutation_p.F109L|REPS2_ENST00000380064.4_5'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	109	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.F109L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCCAACACAGTTTTACATTGC	0.413																																					p.F109L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T325C	X						.						242.0	204.0	216.0					X																	17024395		1896	4111	6007	16934316	SO:0001583	missense	9185	exon2			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.325T>C	X.37:g.17024395T>C	ENSP00000349824:p.Phe109Leu	Somatic		Capture	Illumina HiSeq	Phase_I	16934316	NM_004726	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	T	32	5.121122	0.94385	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.69175	-0.38;-0.38	5.65	5.65	0.86999	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000017	T	0.79941	0.4533	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.81988	-0.0680	10	0.72032	D	0.01	-13.2038	13.7345	0.62809	0.0:0.0:0.0:1.0	.	109;109	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	L	109	ENSP00000349824:F109L;ENSP00000306033:F109L	ENSP00000306033:F109L	F	+	1	0	REPS2	16934316	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.305000	0.78891	1.888000	0.54679	0.486000	0.48141	TTT		0.413	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726	
NHS	4810	broad.mit.edu	37	X	17743728	17743728	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:17743728G>A	ENST00000380060.3	+	6	1777	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	NHS_ENST00000398097.3_Missense_Mutation_p.R324H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	501					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R324H(1)|p.R480H(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGAGCAGCCGCACAAGATCT	0.522																																					p.R324H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G971A	X						.						112.0	99.0	104.0					X																	17743728		2203	4300	6503	17653649	SO:0001583	missense	4810	exon7				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1439G>A	X.37:g.17743728G>A	ENSP00000369400:p.Arg480His	Somatic		Capture	Illumina HiSeq	Phase_I	17653649	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506770	0.64410	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49720	0.77;0.79	5.73	5.73	0.89815	.	0.147801	0.64402	D	0.000005	T	0.68568	0.3015	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.67401	-0.5680	10	0.44086	T	0.13	-5.5391	18.9182	0.92515	0.0:0.0:1.0:0.0	.	501;322;324;480	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	480;324;322	ENSP00000369400:R480H;ENSP00000381170:R324H	ENSP00000369397:R322H	R	+	2	0	NHS	17653649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.347000	0.65998	2.415000	0.81967	0.600000	0.82982	CGC		0.522	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
NHS	4810	broad.mit.edu	37	X	17745046	17745046	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:17745046C>T	ENST00000380060.3	+	6	3095	c.2757C>T	c.(2755-2757)gcC>gcT	p.A919A	NHS_ENST00000398097.3_Silent_p.A763A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	940					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A919A(1)|p.A763A(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATGAAGTTGCCGAATCCACAC	0.438																																					p.A763A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2289T	X						.						174.0	165.0	168.0					X																	17745046		2203	4300	6503	17654967	SO:0001819	synonymous_variant	4810	exon7				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2757C>T	X.37:g.17745046C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17654967	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	CCDS14181.1																																																																																				0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
SCML2	10389	broad.mit.edu	37	X	18276343	18276343	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:18276343C>A	ENST00000251900.4	-	10	1253	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	SCML2_ENST00000398048.3_Missense_Mutation_p.G101V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	365					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G365V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCCAAAGTTTCCATGTTTGTT	0.453																																					p.G365V	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1094T	X						.						84.0	82.0	83.0					X																	18276343		2203	4300	6503	18186264	SO:0001583	missense	10389	exon10			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1094G>T	X.37:g.18276343C>A	ENSP00000251900:p.Gly365Val	Somatic		Capture	Illumina HiSeq	Phase_I	18186264	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853076	0.71719	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.50277	0.75;0.75	5.35	5.35	0.76521	.	0.115313	0.64402	D	0.000015	T	0.69602	0.3129	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	T	0.69624	-0.5095	10	0.41790	T	0.15	.	18.3918	0.90486	0.0:1.0:0.0:0.0	.	333;101;365	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	V	365;101;333	ENSP00000251900:G365V;ENSP00000381126:G101V	ENSP00000251900:G365V	G	-	2	0	SCML2	18186264	1.000000	0.71417	0.984000	0.44739	0.520000	0.34377	7.355000	0.79434	2.370000	0.80446	0.589000	0.80489	GGA		0.453	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
CDKL5	6792	broad.mit.edu	37	X	18622328	18622328	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:18622328C>T	ENST00000379989.3	+	13	1569	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	CDKL5_ENST00000379996.3_Silent_p.G428G|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	428					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.G428G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCAGAAGGCCCAGGGACAA	0.453																																					p.G428G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284T	X						.						131.0	132.0	132.0					X																	18622328		2203	4300	6503	18532249	SO:0001819	synonymous_variant	6792	exon12			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1284C>T	X.37:g.18622328C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18532249	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	CCDS14186.1																																																																																				0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
CDKL5	6792	broad.mit.edu	37	X	18646617	18646617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:18646617C>T	ENST00000379989.3	+	19	2908	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	CDKL5_ENST00000379996.3_Missense_Mutation_p.R875W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	875					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.R875W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTCAGAAATTCGGATTCACCC	0.577																																					p.R875W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2623T	X						.						113.0	115.0	114.0					X																	18646617		2203	4300	6503	18556538	SO:0001583	missense	6792	exon18			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2623C>T	X.37:g.18646617C>T	ENSP00000369325:p.Arg875Trp	Somatic		Capture	Illumina HiSeq	Phase_I	18556538	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189715	0.57909	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79554	-1.28;-1.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	L	0.34521	1.04	0.40974	D	0.984726	D	0.89917	1.0	D	0.69654	0.965	D	0.85951	0.1464	10	0.87932	D	0	-8.9474	13.6769	0.62460	0.1541:0.8458:0.0:0.0	.	875	O76039	CDKL5_HUMAN	W	875	ENSP00000369332:R875W;ENSP00000369325:R875W	ENSP00000369325:R875W	R	+	1	2	CDKL5	18556538	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.001000	0.49488	2.370000	0.80446	0.513000	0.50165	CGG		0.577	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
RS1	6247	broad.mit.edu	37	X	18690150	18690150	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:18690150G>T	ENST00000379984.3	-	1	79	c.39C>A	c.(37-39)ctC>ctA	p.L13L		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	13			L -> P (in XLRS1). {ECO:0000269|PubMed:10533068}.		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.L13L(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CATAGCCAAAGAGAAGTAATA	0.398																																					p.L13L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C39A	X						.						165.0	134.0	145.0					X																	18690150		2203	4300	6503	18600071	SO:0001819	synonymous_variant	6247	exon1			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.39C>A	X.37:g.18690150G>T		Somatic		Capture	Illumina HiSeq	Phase_I	18600071	NM_000330	Q0QD39	Silent	SNP	ENST00000379984.3	37	CCDS14187.1																																																																																				0.398	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1		
PPEF1	5475	broad.mit.edu	37	X	18748333	18748333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:18748333C>A	ENST00000361511.4	+	5	575	c.81C>A	c.(79-81)taC>taA	p.Y27*	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Nonsense_Mutation_p.Y27*|PPEF1_ENST00000543630.1_Nonsense_Mutation_p.Y27*|PPEF1_ENST00000359763.6_Nonsense_Mutation_p.Y27*	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	27	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.Y27*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGAACTGGTACCGAGGTTACA	0.468																																					p.Y27X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C81A	X						.						206.0	145.0	166.0					X																	18748333		2203	4300	6503	18658254	SO:0001587	stop_gained	5475	exon5			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.81C>A	X.37:g.18748333C>A	ENSP00000354871:p.Tyr27*	Somatic		Capture	Illumina HiSeq	Phase_I	18658254	NM_152226	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Nonsense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	42	9.384586	0.99155	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	.	.	.	5.72	4.86	0.63082	.	0.373259	0.23325	N	0.049412	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0609	7.1827	0.25782	0.0:0.7325:0.0:0.2675	.	.	.	.	X	27	.	ENSP00000341892:Y27X	Y	+	3	2	PPEF1	18658254	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.766000	0.38491	1.174000	0.42811	0.506000	0.49869	TAC		0.468	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
PDHA1	5160	broad.mit.edu	37	X	19367458	19367458	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:19367458A>C	ENST00000422285.2	+	2	191	c.86A>C	c.(85-87)aAt>aCt	p.N29T	PDHA1_ENST00000540249.1_Missense_Mutation_p.N29T|PDHA1_ENST00000379805.3_Missense_Mutation_p.N29T|PDHA1_ENST00000379806.5_Missense_Mutation_p.N67T|PDHA1_ENST00000545074.1_Missense_Mutation_p.N29T			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	29					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.N29T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GCATCCCGTAATTTTGCAAAT	0.299																																					p.N67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200C	X						.						82.0	73.0	76.0					X																	19367458		2203	4300	6503	19277379	SO:0001583	missense	5160	exon3				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.86A>C	X.37:g.19367458A>C	ENSP00000394382:p.Asn29Thr	Somatic		Capture	Illumina HiSeq	Phase_I	19277379	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918502	0.33908	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	D;D;D;D;D;D;D;D	0.98649	-4.6;-4.54;-4.39;-4.77;-3.21;-4.59;-5.05;-4.88	5.31	2.87	0.33458	.	0.319303	0.36482	N	0.002561	D	0.96125	0.8737	L	0.60455	1.87	0.29103	N	0.881326	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.004;0.003;0.002;0.002	D	0.88241	0.2910	10	0.11485	T	0.65	-9.3302	7.6269	0.28218	0.7867:0.1389:0.0744:0.0	.	29;29;29;67;29	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	T	67;29;29;67;57;29;29;57;29	ENSP00000369134:N67T;ENSP00000438550:N29T;ENSP00000440761:N29T;ENSP00000406473:N67T;ENSP00000404616:N57T;ENSP00000394382:N29T;ENSP00000348062:N29T;ENSP00000369133:N29T	ENSP00000348062:N29T	N	+	2	0	PDHA1	19277379	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.888000	0.69758	0.251000	0.21505	0.486000	0.48141	AAT		0.299	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
PDHA1	5160	broad.mit.edu	37	X	19373478	19373478	+	Silent	SNP	C	C	T	rs137853254		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:19373478C>T	ENST00000422285.2	+	7	720	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000540249.1_Silent_p.F174F|PDHA1_ENST00000379806.5_Silent_p.F243F|PDHA1_ENST00000545074.1_Silent_p.F212F			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			F -> L (in X-LS; PDHAD). {ECO:0000269|PubMed:7887409, ECO:0000269|PubMed:8199595}.		acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.F205F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GCCAGATATTCGAAGCTTACA	0.458																																					p.F243F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	X	GRCh37	CM920571	PDHA1	M	rs137853254	.						151.0	141.0	144.0					X																	19373478		2203	4300	6503	19283399	SO:0001819	synonymous_variant	5160	exon8				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.615C>T	X.37:g.19373478C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19283399	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	CCDS14192.1																																																																																				0.458	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
MAP3K15	389840	broad.mit.edu	37	X	19392620	19392620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:19392620C>A	ENST00000338883.4	-	20	2747	c.2748G>T	c.(2746-2748)aaG>aaT	p.K916N	MAP3K15_ENST00000469203.2_Missense_Mutation_p.K748N|MAP3K15_ENST00000359173.3_Missense_Mutation_p.K351N|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	916							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.K963N(1)|p.K391N(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAATTCGGTTCTTCTTGCCCT	0.572																																					p.K916N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2748T	X						.						134.0	98.0	110.0					X																	19392620		2203	4300	6503	19302541	SO:0001583	missense	389840	exon20			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2748G>T	X.37:g.19392620C>A	ENSP00000345629:p.Lys916Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19302541	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	C	17.38	3.374448	0.61735	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.24538	1.85;1.85;1.85	5.34	3.55	0.40652	Protein kinase-like domain (1);	0.044361	0.85682	D	0.000000	T	0.29321	0.0730	N	0.19112	0.55	0.48395	D	0.99964	D;P	0.65815	0.995;0.954	D;P	0.63957	0.92;0.478	T	0.04723	-1.0931	10	0.56958	D	0.05	.	8.5051	0.33181	0.0:0.7014:0.0:0.2986	.	391;916	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	N	916;351;748	ENSP00000345629:K916N;ENSP00000352093:K351N;ENSP00000428356:K748N	ENSP00000345629:K916N	K	-	3	2	MAP3K15	19302541	1.000000	0.71417	0.714000	0.30535	0.966000	0.64601	1.329000	0.33770	1.147000	0.42369	-0.190000	0.12839	AAG		0.572	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
RPS6KA3	6197	broad.mit.edu	37	X	20183031	20183031	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:20183031A>C	ENST00000379565.3	-	18	1957	c.1750T>G	c.(1750-1752)Ttt>Gtt	p.F584V	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.F555V|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.F556V|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.F554V|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	584	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F584V(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GGTGCAACAAAATTTGCAGTG	0.338																																					p.F584V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1750G	X						.						88.0	75.0	79.0					X																	20183031		2203	4300	6503	20092952	SO:0001583	missense	6197	exon18			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1750T>G	X.37:g.20183031A>C	ENSP00000368884:p.Phe584Val	Somatic		Capture	Illumina HiSeq	Phase_I	20092952	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438212	0.83885	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.81	5.81	0.92471	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	0.71937	0.3399	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.91635	0.977;0.962;0.999;0.977	T	0.79325	-0.1850	10	0.87932	D	0	.	15.1037	0.72303	1.0:0.0:0.0:0.0	.	555;554;556;584	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	V	584;556;554;555	ENSP00000368884:F584V;ENSP00000440220:F556V;ENSP00000368865:F554V;ENSP00000444837:F555V	ENSP00000368865:F554V	F	-	1	0	RPS6KA3	20092952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.950000	0.56595	0.486000	0.48141	TTT		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
CNKSR2	22866	broad.mit.edu	37	X	21488872	21488872	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:21488872C>A	ENST00000379510.3	+	5	555				CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTATATGGTTCTTTTTTTTCA	0.234																																					.												.	.	0			.	X						.						45.0	50.0	49.0					X																	21488872		2180	4255	6435	21398793	SO:0001627	intron_variant	22866	.			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.520-12C>A	X.37:g.21488872C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21398793	.	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Intron	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.234	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
CNKSR2	22866	broad.mit.edu	37	X	21624892	21624892	+	Intron	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:21624892T>G	ENST00000379510.3	+	19	2080				CNKSR2_ENST00000279451.4_Intron|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000425654.2_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.?(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCTGTGAATTTTCAGATTACT	0.368																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						178.0	123.0	142.0					X																	21624892		2203	4300	6503	21534813	SO:0001627	intron_variant	22866	.			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2045-5T>G	X.37:g.21624892T>G		Somatic		Capture	Illumina HiSeq	Phase_I	21534813	.	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Intron	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.368	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
CNKSR2	22866	broad.mit.edu	37	X	21624994	21624994	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:21624994C>A	ENST00000379510.3	+	19	2178	c.2142C>A	c.(2140-2142)ccC>ccA	p.P714P	CNKSR2_ENST00000279451.4_Silent_p.P714P|CNKSR2_ENST00000543067.1_Silent_p.P665P|CNKSR2_ENST00000425654.2_Silent_p.P684P	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	714					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.P714P(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACGACCTCCCTCGGTAAGTT	0.398																																					p.P714P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2142A	X						.						270.0	177.0	208.0					X																	21624994		2203	4300	6503	21534915	SO:0001819	synonymous_variant	22866	exon19			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2142C>A	X.37:g.21624994C>A		Somatic		Capture	Illumina HiSeq	Phase_I	21534915	NM_014927	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
CNKSR2	22866	broad.mit.edu	37	X	21627606	21627606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:21627606C>A	ENST00000379510.3	+	20	2599	c.2563C>A	c.(2563-2565)Cat>Aat	p.H855N	CNKSR2_ENST00000279451.4_Missense_Mutation_p.H855N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.H806N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.H825N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	855					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.H855N(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGGGTTCAACCATTGCTGTCT	0.552																																					p.H855N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2563A	X						.						79.0	69.0	72.0					X																	21627606		2203	4300	6503	21537527	SO:0001583	missense	22866	exon20			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2563C>A	X.37:g.21627606C>A	ENSP00000368824:p.His855Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21537527	NM_014927	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847408	0.51164	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.20738	2.41;2.05;2.09;2.46	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.47716	1.5	0.58432	D	0.999994	B;B;D;B	0.59357	0.422;0.255;0.985;0.239	B;B;P;B	0.50537	0.085;0.053;0.643;0.07	T	0.01242	-1.1408	10	0.52906	T	0.07	-7.1194	19.0362	0.92980	0.0:1.0:0.0:0.0	.	825;806;447;855	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	N	825;806;855;855	ENSP00000397906:H825N;ENSP00000444633:H806N;ENSP00000279451:H855N;ENSP00000368824:H855N	ENSP00000279451:H855N	H	+	1	0	CNKSR2	21537527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.677000	0.68142	2.445000	0.82738	0.513000	0.50165	CAT		0.552	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
PHEX	5251	broad.mit.edu	37	X	22095780	22095780	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:22095780T>C	ENST00000379374.4	+	5	1188	c.623T>C	c.(622-624)gTg>gCg	p.V208A	PHEX_ENST00000535894.1_Missense_Mutation_p.V111A|PHEX_ENST00000537599.1_Missense_Mutation_p.V208A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	208					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V208A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CGTTTGTATGTGTCCCCTGAT	0.458																																					p.V208A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T623C	X						.						193.0	170.0	178.0					X																	22095780		2203	4300	6503	22005701	SO:0001583	missense	5251	exon5			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.623T>C	X.37:g.22095780T>C	ENSP00000368682:p.Val208Ala	Somatic		Capture	Illumina HiSeq	Phase_I	22005701	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645422	0.87859	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.82081	-1.57;-1.57;-1.57	5.52	5.52	0.82312	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.88377	2.95	0.80722	D	1	P;P	0.38420	0.577;0.63	B;B	0.38921	0.187;0.285	D	0.88342	0.2975	10	0.87932	D	0	.	14.6718	0.68951	0.0:0.0:0.0:1.0	.	208;208	F5GXU4;P78562	.;PHEX_HUMAN	A	208;208;111	ENSP00000368682:V208A;ENSP00000440362:V208A;ENSP00000439418:V111A	ENSP00000368682:V208A	V	+	2	0	PHEX	22005701	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.267000	0.78462	1.845000	0.53610	0.486000	0.48141	GTG		0.458	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PHEX	5251	broad.mit.edu	37	X	22132624	22132624	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:22132624A>C	ENST00000379374.4	+	11	1787	c.1222A>C	c.(1222-1224)Aac>Cac	p.N408H	PHEX_ENST00000535894.1_Missense_Mutation_p.N311H|PHEX_ENST00000537599.1_Missense_Mutation_p.N408H|PHEX_ENST00000418858.3_Missense_Mutation_p.N111H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	408					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N408H(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAAATGTGTAAACTTTATTGA	0.418																																					p.N408H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1222C	X						.						171.0	146.0	154.0					X																	22132624		2203	4300	6503	22042545	SO:0001583	missense	5251	exon11			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1222A>C	X.37:g.22132624A>C	ENSP00000368682:p.Asn408His	Somatic		Capture	Illumina HiSeq	Phase_I	22042545	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597916	0.46318	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.44	5.44	0.79542	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.043636	0.85682	D	0.000000	T	0.66147	0.2760	L	0.47716	1.5	0.44337	D	0.997223	B;B	0.26935	0.135;0.164	B;B	0.21917	0.022;0.037	T	0.66221	-0.5978	10	0.66056	D	0.02	.	9.3336	0.38036	0.9082:0.0:0.0918:0.0	.	408;408	F5GXU4;P78562	.;PHEX_HUMAN	H	408;408;311;111	ENSP00000368682:N408H;ENSP00000440362:N408H;ENSP00000439418:N311H;ENSP00000443531:N111H	ENSP00000368682:N408H	N	+	1	0	PHEX	22042545	1.000000	0.71417	0.940000	0.37924	0.986000	0.74619	6.305000	0.72805	1.821000	0.53095	0.417000	0.27973	AAC		0.418	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PHEX	5251	broad.mit.edu	37	X	22186504	22186504	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:22186504G>T	ENST00000379374.4	+	13	2045	c.1480G>T	c.(1480-1482)Gct>Tct	p.A494S	PHEX_ENST00000535894.1_Missense_Mutation_p.A397S|PHEX-AS1_ENST00000424650.1_RNA|PHEX_ENST00000537599.1_Missense_Mutation_p.A494S|PHEX_ENST00000418858.3_Missense_Mutation_p.A197S	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	494					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A494S(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGACCTCAAAGCTGTAAGTGC	0.353																																					p.A494S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1480T	X						.						100.0	92.0	95.0					X																	22186504		2203	4300	6503	22096425	SO:0001583	missense	5251	exon13			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1480G>T	X.37:g.22186504G>T	ENSP00000368682:p.Ala494Ser	Somatic		Capture	Illumina HiSeq	Phase_I	22096425	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	5.761	0.324864	0.10900	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.84	4.84	0.62591	.	0.301734	0.32901	N	0.005518	T	0.62527	0.2435	N	0.20986	0.625	0.27412	N	0.954548	B;B	0.25904	0.137;0.085	B;B	0.21917	0.037;0.016	T	0.49194	-0.8965	10	0.10111	T	0.7	.	7.0835	0.25244	0.2021:0.0:0.7979:0.0	.	494;494	F5GXU4;P78562	.;PHEX_HUMAN	S	494;494;397;197	ENSP00000368682:A494S;ENSP00000440362:A494S;ENSP00000439418:A397S;ENSP00000443531:A197S	ENSP00000368682:A494S	A	+	1	0	PHEX	22096425	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.268000	0.58883	2.126000	0.65437	0.600000	0.82982	GCT		0.353	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PTCHD1	139411	broad.mit.edu	37	X	23411472	23411472	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:23411472T>C	ENST00000379361.4	+	3	2697	c.1837T>C	c.(1837-1839)Ttg>Ctg	p.L613L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	613					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.L508L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACAGACATGTTGAGGAATTC	0.403																																					p.L613L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1837C	X						.						78.0	81.0	80.0					X																	23411472		2203	4300	6503	23321393	SO:0001819	synonymous_variant	139411	exon3			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1837T>C	X.37:g.23411472T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23321393	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
PTCHD1	139411	broad.mit.edu	37	X	23412044	23412044	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:23412044C>A	ENST00000379361.4	+	3	3269	c.2409C>A	c.(2407-2409)ctC>ctA	p.L803L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	803					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.L698L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGAGTTACCTCTGCTATATTG	0.408																																					p.L803L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2409A	X						.						178.0	144.0	155.0					X																	23412044		2203	4300	6503	23321965	SO:0001819	synonymous_variant	139411	exon3			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2409C>A	X.37:g.23412044C>A		Somatic		Capture	Illumina HiSeq	Phase_I	23321965	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.408	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
CXorf58	254158	broad.mit.edu	37	X	23956725	23956725	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:23956725T>G	ENST00000379211.3	+	8	1396	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	283								p.F283V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TCAAGTTAAATTTCTGGGTCG	0.343																																					p.F283V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T847G	X						.						86.0	86.0	86.0					X																	23956725		2202	4300	6502	23866646	SO:0001583	missense	254158	exon8			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.847T>G	X.37:g.23956725T>G	ENSP00000368511:p.Phe283Val	Somatic		Capture	Illumina HiSeq	Phase_I	23866646	NM_152761		Missense_Mutation	SNP	ENST00000379211.3	37	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	T	4.319	0.058555	0.08339	.	.	ENSG00000165182	ENST00000379211	T	0.28255	1.62	4.76	2.97	0.34412	.	0.571269	0.16253	N	0.222625	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B;B	0.25169	0.017;0.119	B;B	0.24155	0.016;0.051	T	0.29366	-1.0014	10	0.17832	T	0.49	-4.1961	5.8819	0.18860	0.0:0.6534:0.0:0.3466	.	283;283	B7ZLS7;Q96LI9	.;CX058_HUMAN	V	283	ENSP00000368511:F283V	ENSP00000368511:F283V	F	+	1	0	CXorf58	23866646	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.499000	0.22546	0.524000	0.28502	-0.404000	0.06349	TTT		0.343	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
ZFX	7543	broad.mit.edu	37	X	24225448	24225448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24225448G>A	ENST00000379177.1	+	7	1079	c.652G>A	c.(652-654)Gat>Aat	p.D218N	ZFX_ENST00000304543.5_Missense_Mutation_p.D218N|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Missense_Mutation_p.D218N|ZFX_ENST00000539115.1_De_novo_Start_OutOfFrame|ZFX_ENST00000540034.1_Missense_Mutation_p.D257N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	218					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.D218N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTAGTGGATGATGCTGGCAA	0.328																																					p.D218N	Esophageal Squamous(20;306 562 7346 32868 37983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	X						.						114.0	103.0	107.0					X																	24225448		2203	4300	6503	24135369	SO:0001583	missense	7543	exon4				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.652G>A	X.37:g.24225448G>A	ENSP00000368475:p.Asp218Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24135369	NM_001178084	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794103	0.50102	.	.	ENSG00000005889	ENST00000379188;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.95	4.95	0.65309	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.55465	0.1922	L	0.58428	1.81	0.80722	D	1	B;P;B	0.38711	0.097;0.643;0.064	B;P;B	0.45474	0.056;0.482;0.025	T	0.61431	-0.7064	10	0.87932	D	0	-18.0889	17.6759	0.88230	0.0:0.0:1.0:0.0	.	257;218;222	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	N	218;218;218;257;13	ENSP00000368486:D218N;ENSP00000368475:D218N;ENSP00000304985:D218N;ENSP00000441382:D257N	ENSP00000304985:D218N	D	+	1	0	ZFX	24135369	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.190000	0.69967	0.594000	0.82650	GAT		0.328	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
SUPT20HL2	170067	broad.mit.edu	37	X	24330350	24330350	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24330350C>T								AC096509.1 (25556 upstream) : AC004552.1 (36575 downstream)														p.P471P(1)									CACAGAGAAGCGGATCATTAA	0.542																																					p.P361P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1083A	X						.						80.0	69.0	72.0					X																	24330350		1568	3582	5150	24240271	SO:0001628	intergenic_variant	0	exon1																															X.37:g.24330350C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24240271	NM_001136233		IGR	SNP		37																																																																																				0	0.542								
SUPT20HL1	100130302	broad.mit.edu	37	X	24381947	24381947	+	IGR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24381947C>T								AC004552.1 (14924 upstream) : PDK3 (101390 downstream)														p.S464L(1)									ATCATGCAGTCGTTTAATGAT	0.542																																					p.S357L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1070T	X						.						101.0	84.0	89.0					X																	24381947		1568	3582	5150	24291868	SO:0001628	intergenic_variant	0	exon1																															X.37:g.24381947C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24291868	NM_001136234		IGR	SNP		37																																																																																				0	0.542								
PCYT1B	9468	broad.mit.edu	37	X	24580417	24580417	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24580417T>C	ENST00000379144.2	-	8	1233	c.1103A>G	c.(1102-1104)gAa>gGa	p.E368G	PCYT1B_ENST00000379145.1_Missense_Mutation_p.E350G|PCYT1B_ENST00000356768.4_Intron	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	368					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.E368G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CCTCTACTTTTCATCCTCATC	0.577																																					p.E350G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1049G	X						.						42.0	32.0	35.0					X																	24580417		2203	4298	6501	24490338	SO:0001583	missense	9468	exon8			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.1103A>G	X.37:g.24580417T>C	ENSP00000368439:p.Glu368Gly	Somatic		Capture	Illumina HiSeq	Phase_I	24490338	NM_001163264	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175152	0.78564	.	.	ENSG00000102230	ENST00000379145;ENST00000379144	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	L	0.44542	1.39	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.58130	0.833;0.768	T	0.69128	-0.5227	9	0.87932	D	0	-30.2285	15.2179	0.73285	0.0:0.0:0.0:1.0	.	350;368	E9PD84;Q9Y5K3	.;PCY1B_HUMAN	G	350;368	.	ENSP00000368439:E368G	E	-	2	0	PCYT1B	24490338	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.368000	0.79567	1.977000	0.57605	0.441000	0.28932	GAA		0.577	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
POLA1	5422	broad.mit.edu	37	X	24733284	24733284	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24733284T>C	ENST00000379059.3	+	6	486	c.471T>C	c.(469-471)ggT>ggC	p.G157G	POLA1_ENST00000379068.3_Silent_p.G163G	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	157					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.G157G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CCAAGGATGGTCTGCTAGGTG	0.383																																					p.G157G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T471C	X						.						140.0	116.0	124.0					X																	24733284		2203	4300	6503	24643205	SO:0001819	synonymous_variant	5422	exon6				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.471T>C	X.37:g.24733284T>C		Somatic		Capture	Illumina HiSeq	Phase_I	24643205	NM_016937	Q86UQ7	Silent	SNP	ENST00000379059.3	37	CCDS14214.1																																																																																				0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
POLA1	5422	broad.mit.edu	37	X	24759524	24759524	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:24759524A>G	ENST00000379059.3	+	21	2246	c.2231A>G	c.(2230-2232)cAc>cGc	p.H744R	POLA1_ENST00000379068.3_Missense_Mutation_p.H750R	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	744					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.H744R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CTGTTGGAACACACCTGGAAA	0.358																																					p.H744R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2231G	X						.						136.0	115.0	122.0					X																	24759524		2203	4300	6503	24669445	SO:0001583	missense	5422	exon21				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2231A>G	X.37:g.24759524A>G	ENSP00000368349:p.His744Arg	Somatic		Capture	Illumina HiSeq	Phase_I	24669445	NM_016937	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687256	0.29962	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.47177	0.85;0.85	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.174844	0.49916	D	0.000135	T	0.50086	0.1595	M	0.78916	2.43	0.33750	D	0.620531	B	0.22604	0.072	B	0.20955	0.032	T	0.60449	-0.7261	10	0.33141	T	0.24	-9.8613	14.2655	0.66116	1.0:0.0:0.0:0.0	.	744	P09884	DPOLA_HUMAN	R	750;744	ENSP00000368358:H750R;ENSP00000368349:H744R	ENSP00000368349:H744R	H	+	2	0	POLA1	24669445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.380000	0.73158	1.944000	0.56390	0.486000	0.48141	CAC		0.358	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
MAGEB6P1	392433	broad.mit.edu	37	X	26179093	26179093	+	IGR	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:26179093G>T								MAGEB18 (20241 upstream) : MAGEB6 (31463 downstream)														p.E126*(1)									AAAATCTGATGAGGCTGCCAA	0.537																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	X						.						155.0	146.0	149.0					X																	26179093		876	1991	2867	26089014	SO:0001628	intergenic_variant	0	.																															X.37:g.26179093G>T		Somatic		Capture	Illumina HiSeq	Phase_I	26089014	.		IGR	SNP		37																																																																																				0	0.537								
MAGEB3	4114	broad.mit.edu	37	X	30254729	30254729	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:30254729A>G	ENST00000361644.2	+	5	1425	c.688A>G	c.(688-690)Atg>Gtg	p.M230V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.M230V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCTGAATAAGATGAGAATATA	0.463																																					p.M230V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A688G	X						.						45.0	41.0	43.0					X																	30254729		2202	4300	6502	30164650	SO:0001583	missense	4114	exon5			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.688A>G	X.37:g.30254729A>G	ENSP00000355198:p.Met230Val	Somatic		Capture	Illumina HiSeq	Phase_I	30164650	NM_002365	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823688	0.32237	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04809	3.55;3.55	4.3	3.1	0.35709	.	0.182425	0.36703	U	0.002450	T	0.12603	0.0306	M	0.71296	2.17	0.22896	N	0.998593	P	0.51933	0.949	P	0.56865	0.808	T	0.04664	-1.0935	10	0.72032	D	0.01	.	6.0386	0.19722	0.7683:0.0:0.0:0.2317	.	230	O15480	MAGB3_HUMAN	V	230	ENSP00000368271:M230V;ENSP00000355198:M230V	ENSP00000355198:M230V	M	+	1	0	MAGEB3	30164650	0.017000	0.18338	0.964000	0.40570	0.204000	0.24138	-0.001000	0.12947	0.727000	0.32360	0.486000	0.48141	ATG		0.463	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365	
NR0B1	190	broad.mit.edu	37	X	30322827	30322827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:30322827C>T	ENST00000378970.4	-	2	1516	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	428	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E428K(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTATTAAGTTCGATGAATCTG	0.483																																					p.E428K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	X	GRCh37	CM013020	NR0B1	M		.						192.0	154.0	167.0					X																	30322827		2202	4300	6502	30232748	SO:0001583	missense	190	exon2			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1282G>A	X.37:g.30322827C>T	ENSP00000368253:p.Glu428Lys	Somatic		Capture	Illumina HiSeq	Phase_I	30232748	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	4.119	0.020334	0.08006	.	.	ENSG00000169297	ENST00000378970	D	0.98221	-4.8	5.13	0.705	0.18127	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.253774	0.44097	D	0.000494	D	0.88855	0.6550	N	0.03930	-0.32	0.80722	D	1	B	0.30179	0.271	B	0.16722	0.016	D	0.84904	0.0844	10	0.05436	T	0.98	-16.802	5.9367	0.19169	0.0:0.1868:0.6164:0.1968	.	428	P51843	NR0B1_HUMAN	K	428	ENSP00000368253:E428K	ENSP00000368253:E428K	E	-	1	0	NR0B1	30232748	0.963000	0.33076	0.056000	0.19401	0.021000	0.10359	1.539000	0.36104	0.389000	0.25086	0.523000	0.50628	GAA		0.483	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475	
GK	2710	broad.mit.edu	37	X	30738759	30738759	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:30738759G>T	ENST00000378943.3	+	16	1419	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	GK_ENST00000378945.3_Missense_Mutation_p.D414Y|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.D215Y|GK_ENST00000378946.3_Missense_Mutation_p.D420Y	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	420					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.D414Y(1)		central_nervous_system(1)|large_intestine(3)	4						CATGAATCGAGACTGTGGAAT	0.373																																					p.D414Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240T	X						.						104.0	95.0	98.0					X																	30738759		2202	4300	6502	30648680	SO:0001583	missense	2710	exon16			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1240G>T	X.37:g.30738759G>T	ENSP00000368226:p.Asp414Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30648680	NM_001128127	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115177	0.77210	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.59	4.73	0.59995	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95617	0.8575	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0	D	0.96637	0.9471	10	0.87932	D	0	.	13.9914	0.64369	0.075:0.0:0.925:0.0	.	257;420;414;414;420	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	Y	420;414;420;414;215;257;9	ENSP00000368229:D420Y;ENSP00000368226:D414Y;ENSP00000368228:D414Y;ENSP00000401720:D215Y;ENSP00000368221:D9Y	ENSP00000368221:D9Y	D	+	1	0	GK	30648680	1.000000	0.71417	0.837000	0.33122	0.948000	0.59901	9.813000	0.99286	1.240000	0.43803	0.600000	0.82982	GAC		0.373	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	
DMD	1756	broad.mit.edu	37	X	31224692	31224692	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:31224692G>A	ENST00000357033.4	-	66	9856				DMD_ENST00000378707.3_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000474231.1_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000359836.1_Intron|DMD_ENST00000378702.4_Intron|DMD_ENST00000361471.4_Intron|DMD_ENST00000378723.3_Intron|DMD_ENST00000378677.2_Intron|DMD_ENST00000378680.2_Intron	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATATACACGACTTACATCT	0.388																																					.												.	.	4	Unknown(4)	large_intestine(4)	.	X						.						116.0	95.0	102.0					X																	31224692		2202	4300	6502	31134613	SO:0001627	intron_variant	1756	.			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9649+6C>T	X.37:g.31224692G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31134613	.	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Intron	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	31496380	31496380	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:31496380C>A	ENST00000357033.4	-	59	8986	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	DMD_ENST00000474231.1_Missense_Mutation_p.R467I|DMD_ENST00000359836.1_Missense_Mutation_p.R467I|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000343523.2_Missense_Mutation_p.R467I|DMD_ENST00000541735.1_Missense_Mutation_p.R467I|DMD_ENST00000378677.2_Missense_Mutation_p.R2923I|DMD_ENST00000378707.3_Missense_Mutation_p.R467I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1586I(1)|p.R2923I(1)|p.R2922I(1)|p.R467I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTATTTTTCTCTGCCAGTC	0.532																																					p.R2923I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G8768T	X						.						67.0	59.0	62.0					X																	31496380		2202	4300	6502	31406301	SO:0001583	missense	1756	exon59			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8780G>T	X.37:g.31496380C>A	ENSP00000354923:p.Arg2927Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31406301	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829321|3.829321	0.71258|0.71258	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.35789	.|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.4|5.4	4.52|4.52	0.55395|0.55395	.|.	.|0.178753	.|0.25467	.|U	.|0.030471	T|T	0.34454|0.34454	0.0898|0.0898	L|L	0.49126|0.49126	1.545|1.545	0.43103|0.43103	D|D	0.994798|0.994798	.|P;P;P;P;P;B;B;B;P;D;P	.|0.53151	.|0.683;0.93;0.8;0.855;0.855;0.368;0.19;0.19;0.93;0.958;0.731	.|B;P;B;B;B;B;B;B;B;P;B	.|0.47981	.|0.232;0.459;0.276;0.276;0.276;0.272;0.053;0.053;0.36;0.563;0.395	T|T	0.09037|0.09037	-1.0693|-1.0693	5|10	.|0.37606	.|T	.|0.19	.|.	5.9629|5.9629	0.19308|0.19308	0.0:0.6918:0.0:0.3082|0.0:0.6918:0.0:0.3082	.|.	.|2919;2927;2923;1586;1583;467;467;467;467;467;2804	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|I	655|2919;1586;1583;623;2923;2927;467;467;2927;2804;467;467;467	.|ENSP00000350765:R623I;ENSP00000367948:R2923I;ENSP00000354923:R2927I;ENSP00000352894:R467I;ENSP00000340057:R467I;ENSP00000367979:R467I;ENSP00000444119:R467I;ENSP00000417123:R467I	.|ENSP00000340057:R467I	E|R	-|-	3|2	2|0	DMD|DMD	31406301|31406301	0.842000|0.842000	0.29525|0.29525	0.997000|0.997000	0.53966|0.53966	0.931000|0.931000	0.56810|0.56810	1.406000|1.406000	0.34646|0.34646	2.397000|2.397000	0.81536|0.81536	0.529000|0.529000	0.55759|0.55759	GAG|AGA		0.532	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	31514979	31514979	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:31514979C>T	ENST00000357033.4	-	57	8679	c.8473G>A	c.(8473-8475)Gat>Aat	p.D2825N	DMD_ENST00000474231.1_Missense_Mutation_p.D365N|DMD_ENST00000359836.1_Missense_Mutation_p.D365N|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.D365N|DMD_ENST00000541735.1_Missense_Mutation_p.D365N|DMD_ENST00000378677.2_Missense_Mutation_p.D2821N|DMD_ENST00000378707.3_Missense_Mutation_p.D365N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2825					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D2821N(1)|p.D2820N(1)|p.D1484N(1)|p.D365N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATTCATCATCTTTCAGCTGT	0.498																																					p.D2821N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G8461A	X						.						65.0	52.0	56.0					X																	31514979		2202	4300	6502	31424900	SO:0001583	missense	1756	exon57			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8473G>A	X.37:g.31514979C>T	ENSP00000354923:p.Asp2825Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31424900	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.08|14.08	2.428826|2.428826	0.43122|0.43122	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.188368|.	0.24825|.	U|.	0.035286|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.05050|0.05050	-0.12|-0.12	0.37225|0.37225	D|D	0.905419|0.905419	B;B;B;B;B;B;B;B;B;B;B|.	0.27765|.	0.188;0.0;0.002;0.0;0.0;0.009;0.001;0.001;0.001;0.002;0.007|.	B;B;B;B;B;B;B;B;B;B;B|.	0.33339|.	0.162;0.0;0.003;0.001;0.001;0.046;0.003;0.003;0.001;0.002;0.017|.	T|T	0.42766|0.42766	-0.9432|-0.9432	10|5	0.28530|.	T|.	0.3|.	.|.	12.5038|12.5038	0.55970|0.55970	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	2817;2825;2821;1484;1481;365;365;365;365;365;2702|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	N|K	2817;1484;1481;521;2821;2825;365;365;2825;2702;365;365;365|553	ENSP00000350765:D521N;ENSP00000367948:D2821N;ENSP00000354923:D2825N;ENSP00000352894:D365N;ENSP00000340057:D365N;ENSP00000367979:D365N;ENSP00000444119:D365N;ENSP00000417123:D365N|.	ENSP00000340057:D365N|.	D|R	-|-	1|2	0|0	DMD|DMD	31424900|31424900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.425000|4.425000	0.59875|0.59875	2.466000|2.466000	0.83321|0.83321	0.594000|0.594000	0.82650|0.82650	GAT|AGA		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32398752	32398752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:32398752G>A	ENST00000357033.4	-	34	4926	c.4720C>T	c.(4720-4722)Cgt>Tgt	p.R1574C	DMD_ENST00000378677.2_Missense_Mutation_p.R1570C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1574	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R233C(1)|p.R1569C(1)|p.R1570C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCATCTTACGGGACAATTTC	0.343																																					p.R1570C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C4708T	X						.						134.0	119.0	124.0					X																	32398752		2201	4300	6501	32308673	SO:0001583	missense	1756	exon34			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4720C>T	X.37:g.32398752G>A	ENSP00000354923:p.Arg1574Cys	Somatic		Capture	Illumina HiSeq	Phase_I	32308673	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458908	0.63401	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52983	0.64;0.64	5.36	3.36	0.38483	.	0.000000	0.32952	U	0.005447	T	0.65719	0.2718	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.987;1.0;1.0;1.0	D;P;D;D;D	0.81914	0.992;0.818;0.995;0.993;0.986	T	0.70092	-0.4967	10	0.66056	D	0.02	.	14.8778	0.70507	0.0:0.0:0.7265:0.2735	.	1566;1574;1570;233;230	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	C	1566;233;230;1570;1574;1574;1451	ENSP00000367948:R1570C;ENSP00000354923:R1574C	ENSP00000354923:R1574C	R	-	1	0	DMD	32308673	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.664000	0.46783	1.007000	0.39238	0.534000	0.68092	CGT		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32717376	32717376	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:32717376G>T	ENST00000357033.4	-	8	890	c.684C>A	c.(682-684)atC>atA	p.I228I	DMD_ENST00000378677.2_Silent_p.I224I|DMD_ENST00000288447.4_Silent_p.I220I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	228	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I223I(1)|p.I224I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTACATTAAGATGGACTTCT	0.383																																					p.I224I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C672A	X						.						208.0	154.0	172.0					X																	32717376		2202	4300	6502	32627297	SO:0001819	synonymous_variant	1756	exon8			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.684C>A	X.37:g.32717376G>T		Somatic		Capture	Illumina HiSeq	Phase_I	32627297	NM_004009	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
FAM47A	158724	broad.mit.edu	37	X	34148862	34148862	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:34148862G>A	ENST00000346193.3	-	1	1585	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	512								p.R512C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACGTCCGACGAGTCTTGGGA	0.657																																					p.R512C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1534T	X						.						25.0	27.0	27.0					X																	34148862		2139	3926	6065	34058783	SO:0001583	missense	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1534C>T	X.37:g.34148862G>A	ENSP00000345029:p.Arg512Cys	Somatic		Capture	Illumina HiSeq	Phase_I	34058783	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.239445	0.22711	.	.	ENSG00000185448	ENST00000346193	T	0.16597	2.33	0.513	-1.01	0.10169	.	.	.	.	.	T	0.24890	0.0604	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	P	0.58210	0.835	T	0.11991	-1.0565	8	0.56958	D	0.05	.	.	.	.	.	512	Q5JRC9	FA47A_HUMAN	C	512	ENSP00000345029:R512C	ENSP00000345029:R512C	R	-	1	0	FAM47A	34058783	0.075000	0.21258	0.002000	0.10522	0.009000	0.06853	1.734000	0.38166	-0.525000	0.06391	0.287000	0.19450	CGT		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM47A	158724	broad.mit.edu	37	X	34148901	34148901	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:34148901G>A	ENST00000346193.3	-	1	1546	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	499			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R499C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACGTCCGACGAGTCTTGGGA	0.657																																					p.R499C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495T	X						.						39.0	43.0	42.0					X																	34148901		2192	4288	6480	34058822	SO:0001583	missense	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1495C>T	X.37:g.34148901G>A	ENSP00000345029:p.Arg499Cys	Somatic		Capture	Illumina HiSeq	Phase_I	34058822	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	9.681	1.149278	0.21288	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.226	0.226	0.15353	.	.	.	.	.	T	0.30135	0.0755	L	0.61218	1.895	0.09310	N	1	D	0.76494	0.999	P	0.61201	0.885	T	0.09357	-1.0678	8	0.56958	D	0.05	.	.	.	.	.	499	Q5JRC9	FA47A_HUMAN	C	499	ENSP00000345029:R499C	ENSP00000345029:R499C	R	-	1	0	FAM47A	34058822	0.009000	0.17119	0.006000	0.13384	0.096000	0.18686	0.340000	0.19892	0.283000	0.22279	0.287000	0.19450	CGT		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM47A	158724	broad.mit.edu	37	X	34149360	34149360	+	Missense_Mutation	SNP	G	G	A	rs375564986		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:34149360G>A	ENST00000346193.3	-	1	1087	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	346								p.R346W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGGACCCCCGACGAGTCTTG	0.672																																					p.R346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	X						.						22.0	24.0	23.0					X																	34149360		2186	4281	6467	34059281	SO:0001583	missense	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1036C>T	X.37:g.34149360G>A	ENSP00000345029:p.Arg346Trp	Somatic		Capture	Illumina HiSeq	Phase_I	34059281	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.603051	0.28534	.	.	ENSG00000185448	ENST00000346193	T	0.20200	2.09	0.207	0.207	0.15214	.	.	.	.	.	T	0.33469	0.0864	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.11494	-1.0585	8	0.66056	D	0.02	.	.	.	.	.	346	Q5JRC9	FA47A_HUMAN	W	346	ENSP00000345029:R346W	ENSP00000345029:R346W	R	-	1	2	FAM47A	34059281	0.841000	0.29509	0.006000	0.13384	0.006000	0.05464	1.924000	0.40065	0.275000	0.22094	0.279000	0.19357	CGG		0.672	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
TMEM47	83604	broad.mit.edu	37	X	34657431	34657431	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:34657431C>A	ENST00000275954.3	-	2	558	c.300G>T	c.(298-300)ttG>ttT	p.L100F		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	100						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L100F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGATAGAAATCAAACCCACCA	0.428																																					p.L100F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	X						.						77.0	65.0	69.0					X																	34657431		2202	4300	6502	34567352	SO:0001583	missense	83604	exon2			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.300G>T	X.37:g.34657431C>A	ENSP00000275954:p.Leu100Phe	Somatic		Capture	Illumina HiSeq	Phase_I	34567352	NM_031442	Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362832	0.41902	.	.	ENSG00000147027	ENST00000275954	T	0.72725	-0.68	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	L	0.35487	1.065	0.80722	D	1	P	0.49307	0.922	P	0.57101	0.813	T	0.71272	-0.4642	10	0.30854	T	0.27	-18.1759	17.6765	0.88232	0.0:1.0:0.0:0.0	.	100	Q9BQJ4	TMM47_HUMAN	F	100	ENSP00000275954:L100F	ENSP00000275954:L100F	L	-	3	2	TMEM47	34567352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.398000	0.44486	2.391000	0.81399	0.538000	0.68166	TTG		0.428	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442	
FAM47C	442444	broad.mit.edu	37	X	37028227	37028227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:37028227C>A	ENST00000358047.3	+	1	1796	c.1744C>A	c.(1744-1746)Ctc>Atc	p.L582I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	582								p.L582I(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCTGCCCAGA	0.652																																					p.L582I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1744A	X						.						45.0	50.0	48.0					X																	37028227		2202	4300	6502	36938148	SO:0001583	missense	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1744C>A	X.37:g.37028227C>A	ENSP00000367913:p.Leu582Ile	Somatic		Capture	Illumina HiSeq	Phase_I	36938148	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	6.261	0.416201	0.11870	.	.	ENSG00000198173	ENST00000358047	T	0.20881	2.04	1.74	-1.14	0.09741	.	.	.	.	.	T	0.14874	0.0359	L	0.50333	1.59	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.29458	-1.0011	9	0.36615	T	0.2	.	2.6413	0.04972	0.0:0.3201:0.2628:0.417	.	582	Q5HY64	FA47C_HUMAN	I	582	ENSP00000367913:L582I	ENSP00000367913:L582I	L	+	1	0	FAM47C	36938148	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.399000	0.20916	-0.022000	0.13986	0.452000	0.29995	CTC		0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
BCOR	54880	broad.mit.edu	37	X	39914723	39914723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:39914723G>A	ENST00000378444.4	-	12	4867	c.4639C>T	c.(4639-4641)Cga>Tga	p.R1547*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.R1495*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.R1513*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.R390*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R1513*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1547					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R1513*(4)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAGTAGTCGGACAATTTCC	0.453			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.R1513X			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	4	Substitution - Nonsense(4)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)	c.C4537T	X						.						136.0	113.0	121.0					X																	39914723		2202	4300	6502	39799667	SO:0001587	stop_gained	54880	exon12			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4639C>T	X.37:g.39914723G>A	ENSP00000367705:p.Arg1547*	Somatic		Capture	Illumina HiSeq	Phase_I	39799667	NM_017745	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	46	12.246755	0.99650	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.562	18.4686	0.90765	0.0:0.0:1.0:0.0	.	.	.	.	X	417;390;1495;1513;1547;1513;220	.	ENSP00000345923:R1513X	R	-	1	2	BCOR	39799667	1.000000	0.71417	0.929000	0.37066	0.475000	0.33008	7.571000	0.82399	2.301000	0.77427	0.600000	0.82982	CGA		0.453	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
BCOR	54880	broad.mit.edu	37	X	39932400	39932400	+	Silent	SNP	C	C	T	rs140693978		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:39932400C>T	ENST00000378444.4	-	4	2427	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	BCOR_ENST00000378455.4_Silent_p.T733T|BCOR_ENST00000342274.4_Silent_p.T733T|BCOR_ENST00000397354.3_Silent_p.T733T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	733					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T733T(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTCTATGGGCGTGTGTGGTA	0.572			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						C|||	3	0.000794702	0.0023	0.0	3775	,	,		13307	0.0		0.0	False		,,,				2504	0.0				p.T733T			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2199A	X						.						73.0	70.0	71.0					X																	39932400		2202	4300	6502	39817344	SO:0001819	synonymous_variant	54880	exon4			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2199G>A	X.37:g.39932400C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39817344	NM_017745	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.572	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
ATP6AP2	10159	broad.mit.edu	37	X	40464996	40464996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:40464996C>T	ENST00000378438.4	+	9	1200	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ATP6AP2_ENST00000535539.1_Nonsense_Mutation_p.R316*|ATP6AP2_ENST00000544975.1_Nonsense_Mutation_p.R272*|ATP6AP2_ENST00000535777.1_Nonsense_Mutation_p.R270*	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	348					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)	p.R348*(2)		endometrium(1)|large_intestine(1)|lung(2)	4						CCAGAAGATTCGAATGGATTG	0.368																																					p.R348X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1042T	X						.						80.0	69.0	73.0					X																	40464996		2203	4300	6503	40349940	SO:0001587	stop_gained	10159	exon9			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.1042C>T	X.37:g.40464996C>T	ENSP00000367697:p.Arg348*	Somatic		Capture	Illumina HiSeq	Phase_I	40349940	NM_005765	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Nonsense_Mutation	SNP	ENST00000378438.4	37	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508107	0.85282	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777	.	.	.	5.65	5.65	0.86999	.	0.103987	0.64402	D	0.000005	.	.	.	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-29.7493	11.8032	0.52139	0.3156:0.6844:0.0:0.0	.	.	.	.	X	316;348;272;270	.	ENSP00000367697:R348X	R	+	1	2	ATP6AP2	40349940	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.111000	0.50360	2.377000	0.81083	0.600000	0.82982	CGA		0.368	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765	
USP9X	8239	broad.mit.edu	37	X	41075559	41075559	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:41075559C>T	ENST00000324545.8	+	35	6372	c.5739C>T	c.(5737-5739)gaC>gaT	p.D1913D	USP9X_ENST00000378308.2_Silent_p.D1913D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1913	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.D1906D(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGATGATGACGAAGAAATGA	0.398																																					p.D1913D	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5739T	X						.						123.0	121.0	121.0					X																	41075559		2199	4300	6499	40960503	SO:0001819	synonymous_variant	8239	exon35			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5739C>T	X.37:g.41075559C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40960503	NM_001039590	O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
DDX3X	1654	broad.mit.edu	37	X	41201775	41201775	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:41201775C>T	ENST00000399959.2	+	5	1167	c.312C>T	c.(310-312)taC>taT	p.Y104Y	DDX3X_ENST00000457138.2_Silent_p.Y88Y|DDX3X_ENST00000542215.1_Silent_p.Y148Y|DDX3X_ENST00000441189.2_Silent_p.Y104Y|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	104	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.|Required for interaction with IKBKE.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.Y104Y(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGAGTGATTACGATGGCATTG	0.423										HNSCC(61;0.18)			C|||	2	0.000529801	0.0	0.0	3775	,	,		15431	0.0		0.0	False		,,,				2504	0.002				p.Y104Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	X						.						103.0	104.0	103.0					X																	41201775		2192	4291	6483	41086719	SO:0001819	synonymous_variant	1654	exon5			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.312C>T	X.37:g.41201775C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41086719	NM_001356	A8K538|B4E3E8|O15536	Silent	SNP	ENST00000399959.2	37	CCDS43931.1																																																																																				0.423	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
DDX3X	1654	broad.mit.edu	37	X	41206161	41206161	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:41206161T>G	ENST00000399959.2	+	15	2520	c.1665T>G	c.(1663-1665)gaT>gaG	p.D555E	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.D539E|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	555	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.D555E(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTACTAAGGATTTGTTGGATC	0.383										HNSCC(61;0.18)																											p.D555E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1665G	X						.						92.0	89.0	90.0					X																	41206161		2166	4269	6435	41091105	SO:0001583	missense	1654	exon15			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1665T>G	X.37:g.41206161T>G	ENSP00000382840:p.Asp555Glu	Somatic		Capture	Illumina HiSeq	Phase_I	41091105	NM_001356	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983733	0.35036	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.21734	2.01;1.99	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.043099	0.85682	D	0.000000	T	0.11537	0.0281	N	0.13352	0.335	0.80722	D	1	B;B;B;B	0.33512	0.0;0.012;0.415;0.415	B;B;B;B	0.31614	0.0;0.008;0.133;0.077	T	0.19063	-1.0317	10	0.31617	T	0.26	-16.8857	8.7986	0.34894	0.0:0.1428:0.0:0.8572	.	425;539;567;555	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	E	555;539	ENSP00000382840:D555E;ENSP00000392494:D539E	ENSP00000382840:D555E	D	+	3	2	DDX3X	41091105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.888000	0.28268	1.770000	0.52166	0.430000	0.28490	GAT		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
GPR34	2857	broad.mit.edu	37	X	41555920	41555920	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:41555920G>A	ENST00000378142.4	+	3	1318	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R345Q|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R345Q(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTTTTTAGACGATTTCAAGGT	0.388																																					p.R345Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	X						.						78.0	68.0	71.0					X																	41555920		2203	4300	6503	41440864	SO:0001583	missense	2857	exon3			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1034G>A	X.37:g.41555920G>A	ENSP00000367384:p.Arg345Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41440864	NM_001097579	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441545	0.43326	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.38560	1.13;1.13	5.83	5.83	0.93111	.	0.173984	0.36854	N	0.002369	T	0.25306	0.0615	L	0.29908	0.895	0.33781	D	0.624215	P	0.51057	0.941	B	0.36464	0.225	T	0.35773	-0.9775	10	0.21540	T	0.41	-11.7513	9.4046	0.38453	0.0757:0.0:0.7812:0.1432	.	345	Q9UPC5	GPR34_HUMAN	Q	345;345;298	ENSP00000367384:R345Q;ENSP00000367378:R345Q	ENSP00000367378:R345Q	R	+	2	0	GPR34	41440864	0.979000	0.34478	0.993000	0.49108	0.989000	0.77384	1.520000	0.35899	2.467000	0.83353	0.591000	0.81541	CGA		0.388	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
KDM6A	7403	broad.mit.edu	37	X	44922958	44922958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:44922958G>A	ENST00000377967.4	+	16	1860	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	KDM6A_ENST00000536777.1_Missense_Mutation_p.V562M|KDM6A_ENST00000382899.4_Missense_Mutation_p.V614M|KDM6A_ENST00000543216.1_Missense_Mutation_p.V528M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	607	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.V607M(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAATGGAAACGTGCCTTACCT	0.478			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																p.V607M	Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	.	.	10	Whole gene deletion(6)|Substitution - Missense(2)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)|large_intestine(1)|NS(1)	c.G1819A	X						.						77.0	59.0	65.0					X																	44922958		2203	4300	6503	44807902	SO:0001583	missense	7403	exon16			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1819G>A	X.37:g.44922958G>A	ENSP00000367203:p.Val607Met	Somatic		Capture	Illumina HiSeq	Phase_I	44807902	NM_021140	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.677163|4.677163	0.88445|0.88445	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.33216	.|1.45;1.42;1.6;1.97	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51109|0.51109	0.1655|0.1655	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|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	.|0.97110	.|0.992;0.994;1.0;0.999;0.992;0.999	T|T	0.42899|0.42899	-0.9424|-0.9424	5|10	.|0.38643	.|T	.|0.18	-6.5044|-6.5044	18.2207|18.2207	0.89901|0.89901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|246;614;562;659;573;607	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	H|M	204;249|304;607;562;614;528	.|ENSP00000367203:V607M;ENSP00000437405:V562M;ENSP00000372355:V614M;ENSP00000443078:V528M	.|ENSP00000334340:V304M	R|V	+|+	2|1	0|0	KDM6A|KDM6A	44807902|44807902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.174000|9.174000	0.94824|0.94824	2.327000|2.327000	0.79052|0.79052	0.513000|0.513000	0.50165|0.50165	CGT|GTG		0.478	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
SLC9A7	84679	broad.mit.edu	37	X	46541842	46541842	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:46541842C>T	ENST00000328306.4	-	2	479	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	152					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.E152K(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGAGTGTATTCGAAGAACTTT	0.498																																					p.E152K	Pancreas(118;454 1696 1930 13865 39976)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	X						.						125.0	94.0	104.0					X																	46541842		2203	4300	6503	46426786	SO:0001583	missense	84679	exon2			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.454G>A	X.37:g.46541842C>T	ENSP00000330320:p.Glu152Lys	Somatic		Capture	Illumina HiSeq	Phase_I	46426786	NM_032591	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874184	0.91664	.	.	ENSG00000065923	ENST00000328306	T	0.55413	0.52	5.7	5.7	0.88788	Cation/H+ exchanger (1);	0.046410	0.85682	D	0.000000	T	0.56848	0.2013	L	0.59436	1.845	0.80722	D	1	D	0.53151	0.958	P	0.47786	0.557	T	0.52555	-0.8560	10	0.16896	T	0.51	.	18.8561	0.92252	0.0:1.0:0.0:0.0	.	152	Q96T83	SL9A7_HUMAN	K	152	ENSP00000330320:E152K	ENSP00000330320:E152K	E	-	1	0	SLC9A7	46426786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	GAA		0.498	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
RP2	6102	broad.mit.edu	37	X	46713109	46713109	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:46713109T>C	ENST00000218340.3	+	2	462	c.301T>C	c.(301-303)Ttt>Ctt	p.F101L		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	101	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.F101L(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AGGCAGCGTGTTTTTCCGGAA	0.418																																					p.F101L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T301C	X						.						145.0	129.0	135.0					X																	46713109		2203	4300	6503	46598053	SO:0001583	missense	6102	exon2			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.301T>C	X.37:g.46713109T>C	ENSP00000218340:p.Phe101Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46598053	NM_006915	Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717419	0.89205	.	.	ENSG00000102218	ENST00000218340	D	0.94497	-3.44	5.62	5.62	0.85841	CARP motif (1);Tubulin binding cofactor C (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	M	0.86805	2.84	0.80722	D	1	D	0.60575	0.988	P	0.59012	0.85	D	0.96543	0.9402	10	0.39692	T	0.17	-11.6877	14.8103	0.69989	0.0:0.0:0.0:1.0	.	101	O75695	XRP2_HUMAN	L	101	ENSP00000218340:F101L	ENSP00000218340:F101L	F	+	1	0	RP2	46598053	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.578000	0.82498	1.879000	0.54435	0.417000	0.27973	TTT		0.418	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915	
ZNF157	7712	broad.mit.edu	37	X	47272185	47272185	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47272185G>T	ENST00000377073.3	+	4	799	c.713G>T	c.(712-714)aGa>aTa	p.R238I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	238					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.R238I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTACATACAAGAACACACACT	0.453																																					p.R238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713T	X						.						74.0	65.0	68.0					X																	47272185		2203	4300	6503	47157129	SO:0001583	missense	7712	exon4			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.713G>T	X.37:g.47272185G>T	ENSP00000366273:p.Arg238Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47157129	NM_003446	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081425	0.36758	.	.	ENSG00000147117	ENST00000377073	T	0.24908	1.83	3.09	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34629	0.0904	L	0.58302	1.8	0.37491	D	0.916393	D	0.56968	0.978	P	0.54431	0.752	T	0.30268	-0.9984	9	0.59425	D	0.04	.	8.4008	0.32586	0.0:0.4715:0.5285:0.0	.	238	P51786	ZN157_HUMAN	I	238	ENSP00000366273:R238I	ENSP00000366273:R238I	R	+	2	0	ZNF157	47157129	0.000000	0.05858	0.788000	0.31933	0.460000	0.32559	0.779000	0.26746	0.659000	0.30945	0.600000	0.82982	AGA		0.453	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
ZNF41	7592	broad.mit.edu	37	X	47308729	47308729	+	Missense_Mutation	SNP	C	C	T	rs372311823		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47308729C>T	ENST00000377065.4	-	5	1079	c.440G>A	c.(439-441)cGt>cAt	p.R147H	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.R157H|ZNF41_ENST00000313116.7_Missense_Mutation_p.R147H	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	189					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)	p.R147H(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCCTGACGTTGCTCTAG	0.348																																					p.R147H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	X						.	C	HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	105.0	89.0	94.0		440,440	-5.8	0.0	X		94	0,6728		0,0,2428,1872	no	missense,missense	ZNF41	NM_153380.2,NM_007130.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign	147/780,147/780	47308729	1,10562	2203	4300	6503	47193673	SO:0001583	missense	7592	exon5			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.440G>A	X.37:g.47308729C>T	ENSP00000366265:p.Arg147His	Somatic		Capture	Illumina HiSeq	Phase_I	47193673	NM_153380	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.564033	0.00903	2.61E-4	0.0	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.06294	3.32;3.32;3.32;5.99	3.1	-5.78	0.02362	.	1.491270	0.04751	N	0.424541	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.28291	0.008;0.008;0.0;0.206;0.131	B;B;B;B;B	0.17098	0.0;0.0;0.0;0.017;0.012	T	0.37150	-0.9718	10	0.42905	T	0.14	.	0.7826	0.01043	0.4299:0.2367:0.1436:0.1898	.	147;149;157;181;189	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	H	147;147;157;157	ENSP00000315173:R147H;ENSP00000366265:R147H;ENSP00000380243:R157H;ENSP00000390385:R157H	ENSP00000315173:R147H	R	-	2	0	ZNF41	47193673	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.800000	0.01744	-1.367000	0.02152	-0.390000	0.06520	CGT		0.348	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
WASF4P	644739	broad.mit.edu	37	X	47658142	47658142	+	IGR	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47658142A>G								CXXC1P1 (62115 upstream) : ZNF81 (38158 downstream)														p.T75A(1)|p.T46A(1)									ATTTGGAAATACTCATGAGTA	0.438																																					.												.	.	2	Substitution - Missense(2)	large_intestine(2)	.	X						.						119.0	109.0	112.0					X																	47658142		1899	4107	6006	47543086	SO:0001628	intergenic_variant	0	.																															X.37:g.47658142A>G		Somatic		Capture	Illumina HiSeq	Phase_I	47543086	.		IGR	SNP		37																																																																																				0	0.438								
WASF4P	644739	broad.mit.edu	37	X	47663024	47663024	+	IGR	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47663024T>G								CXXC1P1 (66997 upstream) : ZNF81 (33276 downstream)														p.L191L(1)|p.L238L(1)									ACCAGAAGCTTTTTGACAGAA	0.458																																					.												.	.	2	Substitution - coding silent(2)	large_intestine(2)	.	X						.						108.0	107.0	108.0					X																	47663024		2203	4300	6503	47547968	SO:0001628	intergenic_variant	0	.																															X.37:g.47663024T>G		Somatic		Capture	Illumina HiSeq	Phase_I	47547968	.		IGR	SNP		37																																																																																				0	0.458								
ZNF182	7569	broad.mit.edu	37	X	47835717	47835717	+	Missense_Mutation	SNP	C	C	A	rs371902876		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47835717C>A	ENST00000396965.1	-	7	2119	c.1769G>T	c.(1768-1770)aGa>aTa	p.R590I	ZNF182_ENST00000376943.3_Missense_Mutation_p.R571I|ZNF182_ENST00000305127.6_Missense_Mutation_p.R590I	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	590					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)	p.R590I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AGTATGAGTTCTTTGATGTAC	0.428																																					p.R590I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1769T	X						.	C	ILE/ARG,ILE/ARG,ILE/ARG	0,3835		0,0,0,1632,571	116.0	98.0	104.0		1712,1769,1769	4.9	1.0	X		104	1,6727		0,0,1,2428,1871	no	missense,missense,missense	ZNF182	NM_001007088.1,NM_001178099.1,NM_006962.1	97,97,97	0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	571/621,590/640,590/640	47835717	1,10562	2203	4300	6503	47720661	SO:0001583	missense	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1769G>T	X.37:g.47835717C>A	ENSP00000380165:p.Arg590Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47720661	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133819	0.56828	0.0	1.49E-4	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.24908	1.83;1.83;1.83	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52008	0.1708	M	0.78801	2.425	0.48830	D	0.999711	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.994	T	0.56643	-0.7945	9	0.72032	D	0.01	.	14.5199	0.67844	0.0:1.0:0.0:0.0	.	570;571;590	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	I	571;590;590	ENSP00000366142:R571I;ENSP00000380165:R590I;ENSP00000306351:R590I	ENSP00000306351:R590I	R	-	2	0	ZNF182	47720661	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	-0.222000	0.09190	2.397000	0.81536	0.544000	0.68410	AGA		0.428	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
ZNF182	7569	broad.mit.edu	37	X	47836638	47836638	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47836638G>T	ENST00000396965.1	-	7	1198	c.848C>A	c.(847-849)aCt>aAt	p.T283N	ZNF182_ENST00000376943.3_Missense_Mutation_p.T264N|ZNF182_ENST00000305127.6_Missense_Mutation_p.T283N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	283					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)	p.T283N(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCCTGTATGAGTTCGCAAGTG	0.408																																					p.T283N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848A	X						.						74.0	68.0	70.0					X																	47836638		2203	4300	6503	47721582	SO:0001583	missense	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.848C>A	X.37:g.47836638G>T	ENSP00000380165:p.Thr283Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47721582	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978924	0.18812	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.09630	2.96;2.96;2.96	4.68	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15825	0.0381	L	0.56280	1.765	0.25662	N	0.985999	B;B;B	0.30709	0.077;0.291;0.216	B;B;B	0.41088	0.227;0.347;0.094	T	0.25950	-1.0117	9	0.87932	D	0	.	7.3591	0.26735	0.0992:0.1783:0.7225:0.0	.	263;264;283	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	N	264;283;283	ENSP00000366142:T264N;ENSP00000380165:T283N;ENSP00000306351:T283N	ENSP00000306351:T283N	T	-	2	0	ZNF182	47721582	0.002000	0.14202	0.712000	0.30502	0.941000	0.58515	0.609000	0.24238	0.508000	0.28173	0.594000	0.82650	ACT		0.408	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
SSX6	280657	broad.mit.edu	37	X	47978965	47978965	+	RNA	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:47978965G>T	ENST00000509958.1	+	0	114							Q7RTT6	SSX6_HUMAN	synovial sarcoma, X breakpoint 6 (pseudogene)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.K172N(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GTGAGAGAAAGCAGCTGGTGA	0.512																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	X						.						242.0	232.0	235.0					X																	47978965		2198	4289	6487	47863909			280657	.			BK000686		Xp11.23	2009-09-11	2009-08-26		ENSG00000171483	ENSG00000171483			19652	pseudogene	pseudogene		300541	"""SSX family pseudogene 2"", ""synovial sarcoma, X breakpoint 6"""	SSXP2		12216073	Standard	NR_028366		Approved	psiSSX2	uc011mlv.2	Q7RTT6	OTTHUMG00000021464		X.37:g.47978965G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47863909	.		Missense_Mutation	SNP	ENST00000509958.1	37		.	.	.	.	.	.	.	.	.	.	.	8.635	0.894618	0.17613	.	.	ENSG00000171483	ENST00000376932;ENST00000319275	T;T	0.56611	2.49;0.45	2.11	2.11	0.27256	SSXRD motif (1);	0.290102	0.25017	N	0.033800	T	0.47284	0.1437	.	.	.	0.09310	N	1	P	0.38048	0.616	B	0.43916	0.436	T	0.38585	-0.9654	9	0.54805	T	0.06	.	7.0872	0.25264	0.0:0.0:1.0:0.0	.	172	Q7RTT6	SSX6_HUMAN	N	172;74	ENSP00000366131:K172N;ENSP00000325176:K74N	ENSP00000325176:K74N	K	+	3	2	SSX6	47863909	0.067000	0.21026	0.003000	0.11579	0.054000	0.15201	0.643000	0.24750	1.356000	0.45884	0.279000	0.19357	AAG		0.512	SSX6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362117.1	NR_028366	
GATA1	2623	broad.mit.edu	37	X	48650854	48650854	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:48650854C>A	ENST00000376670.3	+	4	834	c.723C>A	c.(721-723)ctC>ctA	p.L241L	GATA1_ENST00000376665.3_Silent_p.L241L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	241					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.L241L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACAGGCCCCTCATCCGGCCCA	0.567			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.L241L	Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723A	X						.						64.0	59.0	60.0					X																	48650854		2203	4300	6503	48535798	SO:0001819	synonymous_variant	2623	exon4			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.723C>A	X.37:g.48650854C>A		Somatic		Capture	Illumina HiSeq	Phase_I	48535798	NM_002049	Q96GB8	Silent	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888307	0.17540	.	.	ENSG00000102145	ENST00000447551	.	.	.	4.13	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.8558	4.351	0.11155	0.2225:0.6566:0.0:0.1209	.	.	.	.	X	6	.	.	S	+	2	0	GATA1	48535798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.428000	0.34892	0.763000	0.33175	0.492000	0.49549	TCA		0.567	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
HDAC6	10013	broad.mit.edu	37	X	48682588	48682588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:48682588C>T	ENST00000334136.5	+	28	3641	c.3463C>T	c.(3463-3465)Cgt>Tgt	p.R1155C	HDAC6_ENST00000376619.2_Missense_Mutation_p.R1155C|HDAC6_ENST00000444343.2_Missense_Mutation_p.R1169C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1155	Ubiquitin binding.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.R1155C(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTACTGTGGTCGTTACATCAA	0.587																																					p.R1155C	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3463T	X						.						137.0	99.0	112.0					X																	48682588		2203	4300	6503	48567532	SO:0001583	missense	10013	exon28			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3463C>T	X.37:g.48682588C>T	ENSP00000334061:p.Arg1155Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48567532	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	c	17.10	3.304315	0.60305	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.41400	1.0;1.0;1.0	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.187429	0.43747	D	0.000529	T	0.75488	0.3856	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	T	0.83107	-0.0125	10	0.87932	D	0	-17.0273	10.7236	0.46055	0.19:0.81:0.0:0.0	.	1145;518;803;1155	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	C	1169;1155;1155	ENSP00000398566:R1169C;ENSP00000334061:R1155C;ENSP00000365804:R1155C	ENSP00000334061:R1155C	R	+	1	0	HDAC6	48567532	0.998000	0.40836	0.424000	0.26647	0.829000	0.46940	3.926000	0.56491	2.342000	0.79632	0.287000	0.19450	CGT		0.587	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
PIM2	11040	broad.mit.edu	37	X	48772311	48772311	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:48772311T>G	ENST00000376509.4	-	4	770	c.581A>C	c.(580-582)tAc>tCc	p.Y194S	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y194S(1)		lung(3)|stomach(1)	4						AAAGTCAGTGTAGGGTTCATC	0.488																																					p.Y194S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A581C	X						.						54.0	44.0	47.0					X																	48772311		2203	4300	6503	48657255	SO:0001583	missense	11040	exon4			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.581A>C	X.37:g.48772311T>G	ENSP00000365692:p.Tyr194Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48657255	NM_006875	A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222178	0.58560	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.64803	-0.12;-0.12	5.6	5.6	0.85130	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	0.64402	D	0.000001	T	0.66117	0.2757	N	0.17278	0.47	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.71823	-0.4476	10	0.87932	D	0	.	13.6792	0.62474	0.0:0.0:0.0:1.0	.	194	Q9P1W9	PIM2_HUMAN	S	194;82	ENSP00000365692:Y194S;ENSP00000410960:Y82S	ENSP00000365692:Y194S	Y	-	2	0	PIM2	48657255	1.000000	0.71417	0.076000	0.20297	0.770000	0.43624	4.830000	0.62745	1.874000	0.54306	0.486000	0.48141	TAC		0.488	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		
KCND1	3750	broad.mit.edu	37	X	48825717	48825717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:48825717C>T	ENST00000218176.3	-	1	2259	c.962G>A	c.(961-963)aGc>aAc	p.S321N	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	321					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.S321N(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGAGGCACAGCTCTTGAGTGT	0.522																																					p.S321N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	X						.						114.0	86.0	96.0					X																	48825717		2203	4300	6503	48710661	SO:0001583	missense	3750	exon1			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.962G>A	X.37:g.48825717C>T	ENSP00000218176:p.Ser321Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48710661	NM_004979	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964187	0.74131	.	.	ENSG00000102057	ENST00000218176	D	0.98419	-4.92	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	L	0.39020	1.185	0.80722	D	1	P	0.38048	0.616	B	0.41135	0.348	D	0.96504	0.9373	10	0.40728	T	0.16	.	17.066	0.86559	0.0:1.0:0.0:0.0	.	321	Q9NSA2	KCND1_HUMAN	N	321	ENSP00000218176:S321N	ENSP00000218176:S321N	S	-	2	0	KCND1	48710661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.294000	0.77228	0.594000	0.82650	AGC		0.522	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
CACNA1F	778	broad.mit.edu	37	X	49069216	49069216	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:49069216G>A	ENST00000376265.2	-	33	3947	c.3886C>T	c.(3886-3888)Cgc>Tgc	p.R1296C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1231C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1285C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1296					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1296C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAAGAGGCGAAAGAAGGTA	0.517																																					p.R1296C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3886T	X	GRCh37	CM055910	CACNA1F	M		.						60.0	50.0	53.0					X																	49069216		2203	4300	6503	48956160	SO:0001583	missense	778	exon33			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3886C>T	X.37:g.49069216G>A	ENSP00000365441:p.Arg1296Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48956160	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216798	0.79352	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98617	-5.03;-5.03;-5.03	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97595	1.0119	10	0.87932	D	0	.	15.6953	0.77490	0.0:0.0:1.0:0.0	.	1285;1296	F5CIQ9;O60840	.;CAC1F_HUMAN	C	1231;1285;1296	ENSP00000365427:R1231C;ENSP00000321618:R1285C;ENSP00000365441:R1296C	ENSP00000321618:R1285C	R	-	1	0	CACNA1F	48956160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.700000	0.74619	1.947000	0.56498	0.529000	0.55759	CGC		0.517	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
CLCN5	1184	broad.mit.edu	37	X	49851137	49851137	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:49851137C>T	ENST00000307367.2	+	8	1248	c.957C>T	c.(955-957)ctC>ctT	p.L319L	CLCN5_ENST00000376088.3_Silent_p.L389L|CLCN5_ENST00000376108.3_Silent_p.L319L|CLCN5_ENST00000376091.3_Silent_p.L389L			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	319					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L319L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTTTGAGCTCGTGCCATTCA	0.512																																					p.L389L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	X						.						98.0	76.0	84.0					X																	49851137		2203	4300	6503	49737877	SO:0001819	synonymous_variant	1184	exon11			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.957C>T	X.37:g.49851137C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49737877	NM_001127898	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.512	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
CCNB3	85417	broad.mit.edu	37	X	50053873	50053873	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:50053873C>A	ENST00000376042.1	+	6	3002	c.2704C>A	c.(2704-2706)Ccc>Acc	p.P902T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P902T|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	902					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.P902T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCAAGAGAAGCCCAGCATTAA	0.478																																					p.P902T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2704A	X						.						66.0	58.0	61.0					X																	50053873		2203	4300	6503	50070613	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2704C>A	X.37:g.50053873C>A	ENSP00000365210:p.Pro902Thr	Somatic		Capture	Illumina HiSeq	Phase_I	50070613	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	7.690	0.690921	0.15039	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.33865	1.39;1.39	3.79	0.00511	0.14061	.	965.149000	0.00166	N	0.000001	T	0.30727	0.0774	L	0.43923	1.385	0.09310	N	1	P	0.44241	0.829	B	0.38378	0.272	T	0.24368	-1.0162	9	.	.	.	.	6.4166	0.21719	0.0:0.5194:0.0:0.4806	.	902	Q8WWL7	CCNB3_HUMAN	T	902	ENSP00000365210:P902T;ENSP00000276014:P902T	.	P	+	1	0	CCNB3	50070613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.382000	0.01064	-0.146000	0.11274	-0.909000	0.02823	CCC		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
SMC1A	8243	broad.mit.edu	37	X	53440397	53440397	+	Intron	SNP	C	C	T	rs372791352		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:53440397C>T	ENST00000322213.4	-	4	539				SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A						DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TAGTAAAGGTCGAAACACTCT	0.498																																					.												.	.	0			.	X						.						38.0	35.0	36.0					X																	53440397		2203	4300	6503	53457122	SO:0001627	intron_variant	8243	.			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.412-12G>A	X.37:g.53440397C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53457122	.	O14995|Q16351|Q2M228	Intron	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																				0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
HUWE1	10075	broad.mit.edu	37	X	53595719	53595719	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:53595719G>A	ENST00000342160.3	-	48	7097	c.6640C>T	c.(6640-6642)Cgg>Tgg	p.R2214W	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2214W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2214					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R2077W(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGAAAAGCCGAATGATGTTG	0.517																																					p.R2214W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6640T	X						.						170.0	121.0	138.0					X																	53595719		2203	4300	6503	53612444	SO:0001583	missense	10075	exon49			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6640C>T	X.37:g.53595719G>A	ENSP00000340648:p.Arg2214Trp	Somatic		Capture	Illumina HiSeq	Phase_I	53612444	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.24|16.24	3.066347|3.066347	0.55539|0.55539	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.55234|.	0.53;0.53|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.55481|0.55481	1.735|1.735	0.52501|0.52501	D|D	0.999951|0.999951	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.982;0.996|.	T|T	0.61501|0.61501	-0.7050|-0.7050	10|5	0.87932|.	D|.	0|.	.|.	12.2235|12.2235	0.54447|0.54447	0.0:0.0:0.8297:0.1703|0.0:0.0:0.8297:0.1703	.|.	2214;2214|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	W|L	2214|1247	ENSP00000340648:R2214W;ENSP00000262854:R2214W|.	ENSP00000262854:R2214W|.	R|S	-|-	1|2	2|0	HUWE1|HUWE1	53612444|53612444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.046000|6.046000	0.71029|0.71029	2.299000|2.299000	0.77371|0.77371	0.600000|0.600000	0.82982|0.82982	CGG|TCG		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
FAM120C	54954	broad.mit.edu	37	X	54186047	54186047	+	Silent	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54186047G>T	ENST00000375180.2	-	2	758	c.702C>A	c.(700-702)gtC>gtA	p.V234V	FAM120C_ENST00000328235.4_Silent_p.V234V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	234							poly(A) RNA binding (GO:0044822)	p.V234V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCTCTGAAAGACCTAGAAGG	0.438																																					p.V234V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702A	X						.						44.0	38.0	40.0					X																	54186047		2203	4300	6503	54202772	SO:0001819	synonymous_variant	54954	exon2			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.702C>A	X.37:g.54186047G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54202772	NM_017848	B2RMT7	Silent	SNP	ENST00000375180.2	37	CCDS14356.1																																																																																				0.438	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848	
GNL3L	54552	broad.mit.edu	37	X	54586997	54586997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54586997G>A	ENST00000336470.4	+	16	1850	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	GNL3L_ENST00000360845.2_Missense_Mutation_p.D571N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	571					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D571N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTCTGCTCTCGACCTCTCTGG	0.522																																					p.D571N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	X						.						269.0	215.0	233.0					X																	54586997		2203	4300	6503	54603722	SO:0001583	missense	54552	exon16			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1711G>A	X.37:g.54586997G>A	ENSP00000338573:p.Asp571Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54603722	NM_019067		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804245	0.31869	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19532	2.14;2.14	4.44	2.65	0.31530	.	0.204155	0.49916	N	0.000122	T	0.20495	0.0493	N	0.12746	0.255	0.34066	D	0.657916	D	0.76494	0.999	D	0.75020	0.985	T	0.25882	-1.0119	10	0.18710	T	0.47	-20.8675	6.6218	0.22808	0.2397:0.0:0.7603:0.0	.	571	Q9NVN8	GNL3L_HUMAN	N	571	ENSP00000338573:D571N;ENSP00000354091:D571N	ENSP00000338573:D571N	D	+	1	0	GNL3L	54603722	0.804000	0.28969	0.510000	0.27712	0.771000	0.43674	0.907000	0.28531	0.410000	0.25675	0.506000	0.49869	GAC		0.522	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	
ITIH6	347365	broad.mit.edu	37	X	54783892	54783892	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54783892G>A	ENST00000218436.6	-	8	2644	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	872	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S872F(1)									CTCAGGCTTGGAAAGTGATAT	0.517																																					p.S872F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2615T	X						.						73.0	66.0	69.0					X																	54783892		2203	4300	6503	54800617	SO:0001583	missense	347365	exon8			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2615C>T	X.37:g.54783892G>A	ENSP00000218436:p.Ser872Phe	Somatic		Capture	Illumina HiSeq	Phase_I	54800617	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149874	0.37923	.	.	ENSG00000102313	ENST00000218436	T	0.02323	4.34	3.97	3.07	0.35406	.	4.282440	0.01342	U	0.011599	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.46735	-0.9170	10	0.56958	D	0.05	.	10.4289	0.44395	0.0:0.1962:0.8038:0.0	.	872	Q6UXX5	ITH5L_HUMAN	F	872	ENSP00000218436:S872F	ENSP00000218436:S872F	S	-	2	0	ITIH5L	54800617	0.948000	0.32251	0.004000	0.12327	0.017000	0.09413	1.808000	0.38912	0.469000	0.27268	0.513000	0.50165	TCC		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
MAGED2	10916	broad.mit.edu	37	X	54835802	54835802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54835802G>A	ENST00000375068.1	+	2	271	c.38G>A	c.(37-39)cGc>cAc	p.R13H	MAGED2_ENST00000396224.1_Missense_Mutation_p.R13H|MAGED2_ENST00000375060.1_Missense_Mutation_p.R13H|MAGED2_ENST00000375058.1_Missense_Mutation_p.R13H|MAGED2_ENST00000347546.4_Missense_Mutation_p.R13H|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Missense_Mutation_p.R13H|MAGED2_ENST00000375053.2_Missense_Mutation_p.R13H|MAGED2_ENST00000218439.4_Missense_Mutation_p.R13H			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	13						membrane (GO:0016020)		p.R13H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GGTCTAACTCGCTTCCAGGTA	0.567																																					p.R13H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38A	X						.						282.0	161.0	202.0					X																	54835802		2203	4300	6503	54852527	SO:0001583	missense	10916	exon2			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.38G>A	X.37:g.54835802G>A	ENSP00000364209:p.Arg13His	Somatic		Capture	Illumina HiSeq	Phase_I	54852527	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984348	0.35036	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T	0.42131	4.03;4.03;0.98;0.98;4.03;4.03;0.98;4.03	4.16	0.392	0.16288	.	0.815193	0.10668	N	0.647931	T	0.34571	0.0902	N	0.24115	0.695	0.09310	N	0.999995	D;D;D	0.64830	0.994;0.975;0.982	P;P;B	0.51582	0.674;0.474;0.374	T	0.18745	-1.0327	10	0.46703	T	0.11	.	6.3068	0.21143	0.4718:0.0:0.5282:0.0	.	13;13;13	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	H	13	ENSP00000364209:R13H;ENSP00000364193:R13H;ENSP00000340290:R13H;ENSP00000364202:R13H;ENSP00000218439:R13H;ENSP00000364198:R13H;ENSP00000364200:R13H;ENSP00000379526:R13H	ENSP00000218439:R13H	R	+	2	0	MAGED2	54852527	0.013000	0.17824	0.095000	0.20976	0.656000	0.38851	0.071000	0.14594	-0.062000	0.13088	0.600000	0.82982	CGC		0.567	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	
TRO	7216	broad.mit.edu	37	X	54955115	54955115	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54955115C>A	ENST00000173898.7	+	12	2070	c.1958C>A	c.(1957-1959)gCt>gAt	p.A653D	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Missense_Mutation_p.A653D|TRO_ENST00000375022.4_Missense_Mutation_p.A653D|TRO_ENST00000399736.1_Missense_Mutation_p.A256D|TRO_ENST00000420798.2_Missense_Mutation_p.A184D|TRO_ENST00000375041.2_Missense_Mutation_p.A256D	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	653					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A653D(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						gcagctgtggctgtggctgag	0.567																																					p.A653D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1958A	X						.						36.0	42.0	40.0					X																	54955115		2139	4249	6388	54971840	SO:0001583	missense	7216	exon12			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1958C>A	X.37:g.54955115C>A	ENSP00000173898:p.Ala653Asp	Somatic		Capture	Illumina HiSeq	Phase_I	54971840	NM_016157	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.437|0.437	-0.900376|-0.900376	0.02472|0.02472	.|.	.|.	ENSG00000067445|ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000420798;ENST00000375041|ENST00000319179	T;T;T;T;T;T|.	0.07688|.	3.82;3.57;3.57;3.46;3.17;3.51|.	2.99|2.99	2.99|2.99	0.34606|0.34606	.|.	.|.	.|.	.|.	.|.	T|T	0.51466|0.51466	0.1676|0.1676	L|L	0.36672|0.36672	1.1|1.1	0.33767|0.33767	D|D	0.622577|0.622577	D;D;D;D|.	0.89917|.	0.997;0.998;1.0;0.997|.	P;D;D;D|.	0.80764|.	0.878;0.99;0.994;0.935|.	T|T	0.64997|0.64997	-0.6275|-0.6275	9|6	0.51188|0.46703	T|T	0.08|0.11	.|.	12.9818|12.9818	0.58568|0.58568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256;256;653;653|.	B1AKE9;B1AKF1;Q96SX2;Q12816|.	.;.;.;TROP_HUMAN|.	D|M	653;653;653;256;184;256|256	ENSP00000173898:A653D;ENSP00000318278:A653D;ENSP00000364162:A653D;ENSP00000382641:A256D;ENSP00000405126:A184D;ENSP00000364181:A256D|.	ENSP00000173898:A653D|ENSP00000318679:L256M	A|L	+|+	2|1	0|2	TRO|TRO	54971840|54971840	0.967000|0.967000	0.33354|0.33354	0.999000|0.999000	0.59377|0.59377	0.294000|0.294000	0.27393|0.27393	1.430000|1.430000	0.34914|0.34914	1.764000|1.764000	0.52075|0.52075	0.544000|0.544000	0.68410|0.68410	GCT|CTG		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
TRO	7216	broad.mit.edu	37	X	54956937	54956937	+	Silent	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:54956937T>G	ENST00000173898.7	+	12	3892	c.3780T>G	c.(3778-3780)ggT>ggG	p.G1260G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G791G|TRO_ENST00000375041.2_Silent_p.G863G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1260	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1260G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGGTTTTGGTGGTGGACTGG	0.602																																					p.G1260G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3780G	X						.						66.0	64.0	65.0					X																	54956937		2073	4199	6272	54973662	SO:0001819	synonymous_variant	7216	exon12			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3780T>G	X.37:g.54956937T>G		Somatic		Capture	Illumina HiSeq	Phase_I	54973662	NM_001039705	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
RRAGB	10325	broad.mit.edu	37	X	55782304	55782304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:55782304C>T	ENST00000262850.7	+	9	1293	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	RRAGB_ENST00000374941.4_Missense_Mutation_p.R256C	NM_016656.3	NP_057740.2			Ras-related GTP binding B									p.R284C(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TAAAGAGCAGCGTGATGCCCA	0.368																																					p.R284C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C850T	X						.						108.0	97.0	101.0					X																	55782304		2203	4300	6503	55799029	SO:0001583	missense	10325	exon9			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.850C>T	X.37:g.55782304C>T	ENSP00000262850:p.Arg284Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55799029	NM_016656		Missense_Mutation	SNP	ENST00000262850.7	37	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572067	0.65765	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.64991	-0.13	3.75	2.88	0.33553	.	0.176019	0.51477	D	0.000095	T	0.68449	0.3002	L	0.55834	1.745	0.80722	D	1	D;D	0.65815	0.989;0.995	P;P	0.61658	0.784;0.892	T	0.67526	-0.5648	10	0.56958	D	0.05	0.024	8.8803	0.35370	0.0:0.8772:0.0:0.1228	.	256;284	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	C	256;284	ENSP00000364077:R256C	ENSP00000262850:R284C	R	+	1	0	RRAGB	55799029	1.000000	0.71417	0.962000	0.40283	0.942000	0.58702	4.269000	0.58890	0.696000	0.31696	0.462000	0.41574	CGT		0.368	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656	
SPIN3	169981	broad.mit.edu	37	X	57020707	57020707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:57020707G>A	ENST00000374919.3	-	2	996	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	225					gamete generation (GO:0007276)			p.T225I(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GACCATGCCAGTTCTCTTGGA	0.443																																					p.T225I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C674T	X						.						89.0	85.0	86.0					X																	57020707		2191	4299	6490	57037432	SO:0001583	missense	169981	exon2			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.674C>T	X.37:g.57020707G>A	ENSP00000364054:p.Thr225Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57037432	NM_001010862	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	3.831	-0.035749	0.07497	.	.	ENSG00000204271	ENST00000374919	T	0.44482	0.92	2.72	-0.139	0.13460	.	0.000000	0.56097	U	0.000028	T	0.17323	0.0416	N	0.04508	-0.205	0.28511	N	0.913555	P	0.35401	0.499	B	0.43274	0.414	T	0.34403	-0.9830	10	0.05620	T	0.96	-4.5176	4.0875	0.09953	0.2634:0.1956:0.541:0.0	.	225	Q5JUX0	SPIN3_HUMAN	I	225	ENSP00000364054:T225I	ENSP00000364054:T225I	T	-	2	0	SPIN3	57037432	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	3.708000	0.54845	-0.148000	0.11234	0.600000	0.82982	ACT		0.443	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
SPIN3	169981	broad.mit.edu	37	X	57021344	57021344	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:57021344G>A	ENST00000374919.3	-	2	359	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	13					gamete generation (GO:0007276)			p.R13W(2)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GTCCTGGACCGCTGCCCTGCA	0.562																																					p.R13W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C37T	X						.						38.0	39.0	38.0					X																	57021344		2060	4174	6234	57038069	SO:0001583	missense	169981	exon2			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.37C>T	X.37:g.57021344G>A	ENSP00000364054:p.Arg13Trp	Somatic		Capture	Illumina HiSeq	Phase_I	57038069	NM_001010862	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928182	0.52759	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.48836	0.8	2.45	1.54	0.23209	.	.	.	.	.	T	0.44201	0.1282	L	0.33485	1.01	0.31742	N	0.635653	D	0.69078	0.997	P	0.53313	0.723	T	0.52026	-0.8630	9	0.87932	D	0	-1.0089	6.5679	0.22523	0.0:0.0:0.4886:0.5114	.	13	Q5JUX0	SPIN3_HUMAN	W	13	ENSP00000364054:R13W	ENSP00000364050:R13W	R	-	1	2	SPIN3	57038069	0.055000	0.20627	0.550000	0.28217	0.077000	0.17291	0.385000	0.20685	0.445000	0.26639	0.600000	0.82982	CGG		0.562	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
ZXDA	7789	broad.mit.edu	37	X	57934495	57934495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:57934495C>A	ENST00000358697.4	-	1	2572	c.2360G>T	c.(2359-2361)aGa>aTa	p.R787I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	787					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R787I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GATAAGATTTCTTTCTTTCTG	0.423																																					p.R787I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2360T	X						.						131.0	119.0	123.0					X																	57934495		2203	4300	6503	57951220	SO:0001583	missense	7789	exon1			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.2360G>T	X.37:g.57934495C>A	ENSP00000351530:p.Arg787Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57951220	NM_007156	Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	0.635	-0.815746	0.02776	.	.	ENSG00000198205	ENST00000358697	T	0.10099	2.91	3.05	0.028	0.14157	.	0.529782	0.19253	N	0.118862	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.39623	-0.9605	9	.	.	.	.	2.013	0.03492	0.125:0.3834:0.3004:0.1913	.	787	P98168	ZXDA_HUMAN	I	787	ENSP00000351530:R787I	.	R	-	2	0	ZXDA	57951220	1.000000	0.71417	0.056000	0.19401	0.225000	0.24961	0.614000	0.24314	-0.115000	0.11915	-0.785000	0.03343	AGA		0.423	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
ZXDA	7789	broad.mit.edu	37	X	57935325	57935325	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:57935325G>A	ENST00000358697.4	-	1	1742	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	510	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F510F(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAGGACACACGAAAGGCTTTG	0.552																																					p.F510F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1530T	X						.						51.0	46.0	48.0					X																	57935325		2203	4300	6503	57952050	SO:0001819	synonymous_variant	7789	exon1			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1530C>T	X.37:g.57935325G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57952050	NM_007156	Q9UJP7	Silent	SNP	ENST00000358697.4	37	CCDS14376.1																																																																																				0.552	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
AMER1	139285	broad.mit.edu	37	X	63411762	63411762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:63411762C>A	ENST00000330258.3	-	2	1677	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.E469*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E469*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	469					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E469*(2)									TAATAACCTTCATCACTATTG	0.537																																					p.E469X												.	.	69	Whole gene deletion(67)|Substitution - Nonsense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.G1405T	X						.						79.0	61.0	67.0					X																	63411762		2203	4300	6503	63328487	SO:0001587	stop_gained	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1405G>T	X.37:g.63411762C>A	ENSP00000329117:p.Glu469*	Somatic		Capture	Illumina HiSeq	Phase_I	63328487	NM_152424	A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	40	8.328755	0.98762	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.0984	16.762	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	X	469	.	ENSP00000329117:E469X	E	-	1	0	FAM123B	63328487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.618000	0.88619	0.600000	0.82982	GAA		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
ZC4H2	55906	broad.mit.edu	37	X	64141693	64141693	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:64141693G>A	ENST00000374839.3	-	2	332				ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000545618.1_Intron|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000488608.1_Intron	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing						nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.?(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGCAGCCACGTACCACATTG	0.527																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						137.0	82.0	101.0					X																	64141693		2203	4300	6503	64058418	SO:0001627	intron_variant	55906	.			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.225+3C>T	X.37:g.64141693G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64058418	.	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Intron	SNP	ENST00000374839.3	37	CCDS14380.1																																																																																				0.527	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684	
STARD8	9754	broad.mit.edu	37	X	67935142	67935142	+	5'UTR	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:67935142C>T	ENST00000374597.3	+	0	255				STARD8_ENST00000374599.3_Missense_Mutation_p.S53L|STARD8_ENST00000252336.6_Intron	NM_001142504.2	NP_001135976.1	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.S53L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACAGAAGGTTCGTTTCCCCTG	0.552																																					p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	X						.						93.0	71.0	78.0					X																	67935142		1568	3581	5149	67851867	SO:0001623	5_prime_UTR_variant	9754	exon4			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000374597.3:c.-83C>T	X.37:g.67935142C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67851867	NM_001142503	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000374597.3	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	4.087	0.014129	0.07959	.	.	ENSG00000130052	ENST00000374599	T	0.43688	0.94	4.14	-6.1	0.02138	.	1.635290	0.03917	N	0.282849	T	0.16685	0.0401	.	.	.	0.23685	N	0.997118	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	9	0.02654	T	1	.	7.5395	0.27729	0.1912:0.2189:0.0:0.5899	.	53	Q92502-2	.	L	53	ENSP00000363727:S53L	ENSP00000363727:S53L	S	+	2	0	STARD8	67851867	0.954000	0.32549	0.001000	0.08648	0.419000	0.31324	0.680000	0.25306	-2.290000	0.00667	-2.038000	0.00419	TCG		0.552	STARD8-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
EFNB1	1947	broad.mit.edu	37	X	68059878	68059878	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:68059878C>T	ENST00000204961.4	+	4	1355	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	192					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.A192V(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GTCAAGATGGCCACACAGGCC	0.562																																					p.A192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	X						.						60.0	55.0	57.0					X																	68059878		2203	4299	6502	67976603	SO:0001583	missense	1947	exon4			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.575C>T	X.37:g.68059878C>T	ENSP00000204961:p.Ala192Val	Somatic		Capture	Illumina HiSeq	Phase_I	67976603	NM_004429	D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	9.761	1.170180	0.21621	.	.	ENSG00000090776	ENST00000204961	D	0.90788	-2.73	5.21	4.34	0.51931	.	0.422501	0.24848	N	0.035120	D	0.82591	0.5070	N	0.19112	0.55	0.30140	N	0.803977	B	0.06786	0.001	B	0.04013	0.001	T	0.74414	-0.3673	10	0.27785	T	0.31	-5.4213	12.422	0.55525	0.0:0.8344:0.1656:0.0	.	192	P98172	EFNB1_HUMAN	V	192	ENSP00000204961:A192V	ENSP00000204961:A192V	A	+	2	0	EFNB1	67976603	0.947000	0.32204	0.761000	0.31378	0.047000	0.14425	1.763000	0.38461	1.170000	0.42753	0.529000	0.55759	GCC		0.562	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429	
EDA	1896	broad.mit.edu	37	X	68840740	68840740	+	Intron	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:68840740G>A	ENST00000374552.4	+	1	638				EDA_ENST00000374553.2_Intron|EDA_ENST00000527388.1_Intron|EDA_ENST00000338901.3_Intron|EDA_ENST00000524573.1_Intron|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000525810.1_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A						cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TCTATAACAGGCCTGTTTTCC	0.358																																					.												.	.	0			.	X						.						137.0	118.0	124.0					X																	68840740		2203	4300	6503	68757465	SO:0001627	intron_variant	1896	.			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.396+4192G>A	X.37:g.68840740G>A		Somatic		Capture	Illumina HiSeq	Phase_I	68757465	.	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Intron	SNP	ENST00000374552.4	37	CCDS14394.1																																																																																				0.358	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
KIF4A	24137	broad.mit.edu	37	X	69563563	69563563	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:69563563C>T	ENST00000374403.3	+	12	1359	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	KIF4A_ENST00000374388.3_Missense_Mutation_p.A426V	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	426					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A426V(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGAGCAAGCGAATGAAAAA	0.448																																					p.A426V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1277T	X						.						63.0	50.0	55.0					X																	69563563		2203	4300	6503	69480288	SO:0001583	missense	24137	exon12			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1277C>T	X.37:g.69563563C>T	ENSP00000363524:p.Ala426Val	Somatic		Capture	Illumina HiSeq	Phase_I	69480288	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897703	0.33535	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.46819	0.86;0.86	5.11	5.11	0.69529	.	0.353871	0.24456	N	0.038363	T	0.41419	0.1158	L	0.54323	1.7	0.40974	D	0.984726	B;B	0.12630	0.003;0.006	B;B	0.15484	0.002;0.013	T	0.31052	-0.9957	10	0.31617	T	0.26	.	9.9425	0.41589	0.3159:0.6841:0.0:0.0	.	426;426	O95239;O95239-2	KIF4A_HUMAN;.	V	426	ENSP00000363509:A426V;ENSP00000363524:A426V	ENSP00000363509:A426V	A	+	2	0	KIF4A	69480288	0.839000	0.29477	0.975000	0.42487	0.956000	0.61745	1.592000	0.36676	2.365000	0.80145	0.594000	0.82650	GCG		0.448	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
GDPD2	54857	broad.mit.edu	37	X	69652246	69652246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:69652246C>T	ENST00000374382.3	+	13	1648	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.S387L|GDPD2_ENST00000538649.1_Missense_Mutation_p.S387L|GDPD2_ENST00000453994.2_Missense_Mutation_p.S517L	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	466	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.S466L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGGGTGGATTCGGTCACCACC	0.532																																					p.S466L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1397T	X						.						194.0	157.0	169.0					X																	69652246		2203	4300	6503	69568971	SO:0001583	missense	54857	exon13			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1397C>T	X.37:g.69652246C>T	ENSP00000363503:p.Ser466Leu	Somatic		Capture	Illumina HiSeq	Phase_I	69568971	NM_017711	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759339	0.89932	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.81341	2.54	0.49582	D	0.999802	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.965	T	0.79057	-0.1959	9	.	.	.	-7.7636	15.4955	0.75646	0.0:1.0:0.0:0.0	.	517;466	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	L	517;387;387;466	ENSP00000414019:S517L;ENSP00000445982:S387L;ENSP00000444601:S387L;ENSP00000363503:S466L	.	S	+	2	0	GDPD2	69568971	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	6.952000	0.75989	2.214000	0.71695	0.468000	0.43344	TCG		0.532	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
TEX11	56159	broad.mit.edu	37	X	69890216	69890216	+	Intron	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:69890216A>C	ENST00000395889.2	-	17	1581				TEX11_ENST00000374320.2_Intron|TEX11_ENST00000374333.2_Intron|TEX11_ENST00000344304.3_Intron	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAATAGATAAATCAAAGGAC	0.408																																					.												.	.	0			.	X						.						87.0	72.0	77.0					X																	69890216		2203	4300	6503	69806941	SO:0001627	intron_variant	56159	.			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1425+10T>G	X.37:g.69890216A>C		Somatic		Capture	Illumina HiSeq	Phase_I	69806941	.	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Intron	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.408	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
MED12	9968	broad.mit.edu	37	X	70357413	70357413	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:70357413T>C	ENST00000374080.3	+	40	5786	c.5754T>C	c.(5752-5754)agT>agC	p.S1918S	MED12_ENST00000333646.6_Silent_p.S1921S|MED12_ENST00000374102.1_Silent_p.S1917S			Q93074	MED12_HUMAN	mediator complex subunit 12	1918	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S1918S(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTAGCAGAGTCAGGGCATGT	0.507			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.S1918S			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5754C	X						.						133.0	116.0	121.0					X																	70357413		2046	4177	6223	70274138	SO:0001819	synonymous_variant	9968	exon40			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5754T>C	X.37:g.70357413T>C		Somatic		Capture	Illumina HiSeq	Phase_I	70274138	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	9.561	1.118603	0.20877	.	.	ENSG00000184634	ENST00000444034	.	.	.	4.33	3.17	0.36434	.	.	.	.	.	T	0.45756	0.1358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	4	.	.	.	1.823	2.3765	0.04343	0.2173:0.2885:0.0:0.4942	.	.	.	.	A	139	.	.	V	+	2	0	MED12	70274138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.800000	0.27042	0.654000	0.30846	0.430000	0.28490	GTC		0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
NLGN3	54413	broad.mit.edu	37	X	70375107	70375107	+	Silent	SNP	C	C	T	rs183134164		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:70375107C>T	ENST00000358741.3	+	5	924	c.621C>T	c.(619-621)caC>caT	p.H207H	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.H187H|NLGN3_ENST00000536169.1_Silent_p.H167H	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	207					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.H187H(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TCTACATCCACGGAGGCTCTT	0.567													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15408	0.0		0.0	False		,,,				2504	0.0				p.H167H	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	X						.						224.0	140.0	169.0					X																	70375107		2203	4300	6503	70291832	SO:0001819	synonymous_variant	54413	exon3			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.621C>T	X.37:g.70375107C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70291832	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	CCDS55441.1																																																																																				0.567	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
NLGN3	54413	broad.mit.edu	37	X	70387356	70387356	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:70387356G>A	ENST00000358741.3	+	7	1712	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.R450H|NLGN3_ENST00000536169.1_Missense_Mutation_p.R430H	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	470					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.R450H(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTGAGACCCGCCGTAAAACA	0.567																																					p.R430H	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	X						.						53.0	43.0	46.0					X																	70387356		2203	4300	6503	70304081	SO:0001583	missense	54413	exon5			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1409G>A	X.37:g.70387356G>A	ENSP00000351591:p.Arg470His	Somatic		Capture	Illumina HiSeq	Phase_I	70304081	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.501428|4.501428	0.85176|0.85176	.|.	.|.	ENSG00000196338|ENSG00000196338	ENST00000542063|ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	.|T;T;T;T	.|0.58940	.|0.3;0.3;0.3;0.3	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Carboxylesterase, type B (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74053|0.74053	0.3666|0.3666	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	T|T	0.76724|0.76724	-0.2854|-0.2854	5|10	.|0.62326	.|D	.|0.03	.|.	17.3394|17.3394	0.87291|0.87291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|430;470;450	.|D3DVV1;Q9NZ94;Q9NZ94-2	.|.;NLGN3_HUMAN;.	T|H	333|430;450;430;470	.|ENSP00000445298:R430H;ENSP00000363163:R450H;ENSP00000379196:R430H;ENSP00000351591:R470H	.|ENSP00000351591:R470H	A|R	+|+	1|2	0|0	NLGN3|NLGN3	70304081|70304081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.277000|2.277000	0.76020|0.76020	0.508000|0.508000	0.49915|0.49915	GCC|CGC		0.567	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
NONO	4841	broad.mit.edu	37	X	70514212	70514212	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:70514212G>A	ENST00000276079.8	+	5	689	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	NONO_ENST00000535149.1_Missense_Mutation_p.E73K|NONO_ENST00000373856.3_Missense_Mutation_p.E162K|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.E162K	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	162	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E162K(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGTGTCCAACGAACTGCTGGA	0.512			T	TFE3	papillary renal cancer																																p.E162K			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	X						.						139.0	99.0	113.0					X																	70514212		2203	4300	6503	70430937	SO:0001583	missense	4841	exon6			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.484G>A	X.37:g.70514212G>A	ENSP00000276079:p.Glu162Lys	Somatic		Capture	Illumina HiSeq	Phase_I	70430937	NM_001145408	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.040114	0.93630	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047948	0.85682	D	0.000000	T	0.41003	0.1140	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.55785	0.784	T	0.42275	-0.9461	10	0.87932	D	0	-12.1733	17.3063	0.87196	0.0:0.0:1.0:0.0	.	162	Q15233	NONO_HUMAN	K	73;162;162;162;162	ENSP00000441364:E73K;ENSP00000276079:E162K;ENSP00000362963:E162K;ENSP00000362947:E162K;ENSP00000406673:E162K	ENSP00000276079:E162K	E	+	1	0	NONO	70430937	1.000000	0.71417	0.981000	0.43875	0.856000	0.48823	9.489000	0.97949	2.269000	0.75478	0.529000	0.55759	GAA		0.512	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
TAF1	6872	broad.mit.edu	37	X	70678209	70678209	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:70678209T>G	ENST00000373790.4	+	35	5105	c.5054T>G	c.(5053-5055)gTa>gGa	p.V1685G	TAF1_ENST00000276072.3_Missense_Mutation_p.V1706G|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.V1685G|TAF1_ENST00000423759.1_Missense_Mutation_p.V1708G	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1685	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V1685G(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAAAGCAGGTAACACAGGTA	0.433																																					p.V1685G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5054G	X						.						146.0	117.0	127.0					X																	70678209		2203	4300	6503	70594934	SO:0001583	missense	6872	exon35				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5054T>G	X.37:g.70678209T>G	ENSP00000362895:p.Val1685Gly	Somatic		Capture	Illumina HiSeq	Phase_I	70594934	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.844|9.844	1.191907|1.191907	0.21954|0.21954	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.08720|.	3.06;3.1;3.1;3.06|.	5.15|5.15	2.73|2.73	0.32206|0.32206	.|.	1.269610|.	0.05053|.	N|.	0.478457|.	T|.	0.16599|.	0.0399|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|.	0.22556|.	-1.0213|.	10|.	0.23302|.	T|.	0.38|.	.|.	5.3907|5.3907	0.16242|0.16242	0.0:0.1079:0.3207:0.5714|0.0:0.1079:0.3207:0.5714	.|.	341;1685;1685;1706|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	G|E	1685;1685;1708;393;1706|340	ENSP00000362895:V1685G;ENSP00000389000:V1685G;ENSP00000406549:V1708G;ENSP00000276072:V1706G|.	ENSP00000276072:V1706G|.	V|X	+|+	2|1	0|0	TAF1|TAF1	70594934|70594934	0.478000|0.478000	0.25917|0.25917	0.442000|0.442000	0.26870|0.26870	0.844000|0.844000	0.47949|0.47949	1.358000|1.358000	0.34102|0.34102	0.772000|0.772000	0.33382|0.33382	0.441000|0.441000	0.28932|0.28932	GTA|TAA		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
RGAG4	340526	broad.mit.edu	37	X	71349760	71349760	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:71349760C>T	ENST00000545866.1	-	1	1998	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R544Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	544								p.R617Q(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGGCGTCTTCGAACTTGGCG	0.607																																					p.R544Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1631A	X						.						40.0	45.0	43.0					X																	71349760		1927	4127	6054	71266485	SO:0001583	missense	340526	exon1			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1631G>A	X.37:g.71349760C>T	ENSP00000441366:p.Arg544Gln	Somatic		Capture	Illumina HiSeq	Phase_I	71266485	NM_001024455	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964392	0.53507	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.16597	2.33;2.33	4.11	4.11	0.48088	.	.	.	.	.	T	0.24392	0.0591	N	0.19112	0.55	0.28011	N	0.934925	D	0.89917	1.0	D	0.76071	0.987	T	0.05305	-1.0893	8	.	.	.	-2.4174	10.7292	0.46087	0.0:1.0:0.0:0.0	.	544	Q5HYW3	RGAG4_HUMAN	Q	544	ENSP00000441366:R544Q;ENSP00000418667:R544Q	.	R	-	2	0	RGAG4	71266485	0.996000	0.38824	0.924000	0.36721	0.591000	0.36615	3.259000	0.51515	2.294000	0.77228	0.513000	0.50165	CGA		0.607	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455	
NHSL2	340527	broad.mit.edu	37	X	71359837	71359837	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:71359837T>C	ENST00000373677.1	+	2	2603	c.1341T>C	c.(1339-1341)acT>acC	p.T447T	NHSL2_ENST00000540800.1_Silent_p.T813T|NHSL2_ENST00000510661.1_Silent_p.T582T|NHSL2_ENST00000535692.1_Silent_p.T447T			Q5HYW2	NHSL2_HUMAN	NHS-like 2	447								p.T444T(1)|p.T813T(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCCAGAAAACTAATCCCAACC	0.502																																					p.T813T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2439C	X						.						81.0	68.0	72.0					X																	71359837		2203	4300	6503	71276562	SO:0001819	synonymous_variant	340527	exon6					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1341T>C	X.37:g.71359837T>C		Somatic		Capture	Illumina HiSeq	Phase_I	71276562	NM_001013627	B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.502	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
TSIX	9383	broad.mit.edu	37	X	73042761	73042761	+	lincRNA	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73042761T>C	ENST00000604411.1	+	0	30722				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTAGAGAATTTGTTCCTGTGT	0.328																																					.												.	.	0			.	X						.						68.0	70.0	69.0					X																	73042761		875	1990	2865	72959486			9383	.					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042761T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72959486	.		RNA	SNP	ENST00000604411.1	37																																																																																					0.328	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255	
XIST	7503	broad.mit.edu	37	X	73061514	73061514	+	lincRNA	SNP	T	T	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73061514T>G	ENST00000429829.1	-	0	11074					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTTGGCTTATTTTTCTTATAA	0.313																																					.												.	.	0			.	X						.						9.0	9.0	9.0					X																	73061514		852	1933	2785	72978239			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061514T>G		Somatic		Capture	Illumina HiSeq	Phase_I	72978239	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.313	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
XIST	7503	broad.mit.edu	37	X	73064235	73064235	+	lincRNA	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73064235C>A	ENST00000429829.1	-	0	8353					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTGCCCTTATCTAGTACACAA	0.403																																					.												.	.	0			.	X						.						45.0	45.0	45.0					X																	73064235		876	1991	2867	72980960			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064235C>A		Somatic		Capture	Illumina HiSeq	Phase_I	72980960	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.403	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
XIST	7503	broad.mit.edu	37	X	73066363	73066363	+	lincRNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73066363A>G	ENST00000429829.1	-	0	6225					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGAGAGTAGGACCTTATTCAC	0.443																																					.												.	.	0			.	X						.						215.0	183.0	193.0					X																	73066363		876	1991	2867	72983088			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066363A>G		Somatic		Capture	Illumina HiSeq	Phase_I	72983088	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.443	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
XIST	7503	broad.mit.edu	37	X	73067716	73067716	+	lincRNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73067716A>G	ENST00000429829.1	-	0	4872					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGGAAAGGTAACATAGGTAAT	0.368																																					.												.	.	0			.	X						.						184.0	172.0	176.0					X																	73067716		876	1991	2867	72984441			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73067716A>G		Somatic		Capture	Illumina HiSeq	Phase_I	72984441	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.368	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
FTX	100302692	broad.mit.edu	37	X	73506965	73506965	+	lincRNA	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73506965A>G	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		TAGCAGGCACACAATAAATGT	0.393																																					.												.	.	0			.	X						.						63.0	57.0	59.0					X																	73506965		1568	3582	5150	73423690			0	.			AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506965A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73423690	.		IGR	SNP	ENST00000429124.1	37																																																																																					0.393	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379	
KIAA2022	340533	broad.mit.edu	37	X	73964049	73964049	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:73964049G>A	ENST00000055682.6	-	3	954	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	115					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P115S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATTCATTGGGAAGTGACCAT	0.507																																					p.P115S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343T	X						.						108.0	99.0	102.0					X																	73964049		2203	4300	6503	73880774	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.343C>T	X.37:g.73964049G>A	ENSP00000055682:p.Pro115Ser	Somatic		Capture	Illumina HiSeq	Phase_I	73880774	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502781	0.44558	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.52526	0.66;0.66	5.2	5.2	0.72013	.	0.084010	0.51477	D	0.000097	T	0.60392	0.2265	L	0.44542	1.39	0.45541	D	0.998493	D	0.65815	0.995	P	0.61940	0.896	T	0.63677	-0.6583	10	0.87932	D	0	-8.8963	17.8486	0.88738	0.0:0.0:1.0:0.0	.	115	Q5QGS0	K2022_HUMAN	S	115	ENSP00000362567:P115S;ENSP00000055682:P115S	ENSP00000055682:P115S	P	-	1	0	KIAA2022	73880774	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.251000	0.58778	2.403000	0.81681	0.600000	0.82982	CCC		0.507	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
UPRT	139596	broad.mit.edu	37	X	74513339	74513339	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:74513339C>T	ENST00000373383.4	+	2	586	c.419C>T	c.(418-420)gCg>gTg	p.A140V	UPRT_ENST00000373379.1_Missense_Mutation_p.A140V|UPRT_ENST00000530743.1_Missense_Mutation_p.A4V|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	140					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A140V(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ATGTTTTCTGCGGATCGTTTG	0.348																																					p.A140V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419T	X						.						211.0	192.0	198.0					X																	74513339		2203	4300	6503	74430064	SO:0001583	missense	139596	exon2			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.419C>T	X.37:g.74513339C>T	ENSP00000362481:p.Ala140Val	Somatic		Capture	Illumina HiSeq	Phase_I	74430064	NM_145052	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158447	0.94686	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91011	-2.77;-2.77;-2.77	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;P;P	0.87578	0.998;0.875;0.875	D	0.92857	0.6302	10	0.23302	T	0.38	-23.7323	17.4832	0.87680	0.0:1.0:0.0:0.0	.	140;140;140	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	V	140;140;4	ENSP00000362481:A140V;ENSP00000362477:A140V;ENSP00000434037:A4V	ENSP00000362477:A140V	A	+	2	0	UPRT	74430064	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	4.936000	0.63506	2.343000	0.79666	0.513000	0.50165	GCG		0.348	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052	
UPRT	139596	broad.mit.edu	37	X	74516222	74516222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:74516222G>T	ENST00000373383.4	+	3	642	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	UPRT_ENST00000373379.1_Nonsense_Mutation_p.E159*|UPRT_ENST00000530743.1_Nonsense_Mutation_p.E23*|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	159					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E159*(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GCCATATAAAGAATGCATGGT	0.413																																					p.E159X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G475T	X						.						124.0	109.0	114.0					X																	74516222		2203	4300	6503	74432947	SO:0001587	stop_gained	139596	exon3			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.475G>T	X.37:g.74516222G>T	ENSP00000362481:p.Glu159*	Somatic		Capture	Illumina HiSeq	Phase_I	74432947	NM_145052	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Nonsense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	37	6.134858	0.97315	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	.	.	.	5.32	5.32	0.75619	.	0.092098	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-17.0546	17.0522	0.86523	0.0:0.0:1.0:0.0	.	.	.	.	X	159;159;23	.	ENSP00000362477:E159X	E	+	1	0	UPRT	74432947	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.412000	0.97347	2.235000	0.73313	0.529000	0.55759	GAA		0.413	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052	
ZDHHC15	158866	broad.mit.edu	37	X	74648997	74648997	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:74648997G>T	ENST00000373367.3	-	7	749	c.519C>A	c.(517-519)ttC>ttA	p.F173L	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.F164L|ZDHHC15_ENST00000373361.3_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	173					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F173L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ATTGAAGGAAGAATTTGTAGT	0.338																																					p.F164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C492A	X						.						96.0	92.0	93.0					X																	74648997		2203	4300	6503	74565722	SO:0001583	missense	158866	exon6			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.519C>A	X.37:g.74648997G>T	ENSP00000362465:p.Phe173Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74565722	NM_001146256	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894289	0.72639	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.24723	1.84;1.84	4.62	2.84	0.33178	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.77712	2.385	0.80722	D	1	D;D	0.69078	0.985;0.997	D;D	0.74348	0.963;0.983	T	0.43426	-0.9392	10	0.72032	D	0.01	-34.9729	9.3019	0.37851	0.1804:0.0:0.8196:0.0	.	164;173	B3KVG7;Q96MV8	.;ZDH15_HUMAN	L	173;164	ENSP00000362465:F173L;ENSP00000445420:F164L	ENSP00000362465:F173L	F	-	3	2	ZDHHC15	74565722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.693000	0.37742	0.487000	0.27698	0.600000	0.82982	TTC		0.338	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	
POU3F4	5456	broad.mit.edu	37	X	82763692	82763692	+	Silent	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:82763692G>A	ENST00000373200.2	+	1	424	c.360G>A	c.(358-360)ccG>ccA	p.P120P	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	120					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P120P(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCCGGCACCGAACCCGTCTA	0.652																																					p.P120P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G360A	X						.						35.0	34.0	34.0					X																	82763692		2200	4298	6498	82650348	SO:0001819	synonymous_variant	5456	exon1			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.360G>A	X.37:g.82763692G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82650348	NM_000307	B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	CCDS14450.1																																																																																				0.652	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
POU3F4	5456	broad.mit.edu	37	X	82763831	82763831	+	Nonsense_Mutation	SNP	C	C	T	rs111033345		TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:82763831C>T	ENST00000373200.2	+	1	563	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	167					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R167*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCCGGTGCTCCGAGAGCCCCC	0.642																																					p.R167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C499T	X						.						17.0	18.0	17.0					X																	82763831		2203	4298	6501	82650487	SO:0001587	stop_gained	5456	exon1			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.499C>T	X.37:g.82763831C>T	ENSP00000362296:p.Arg167*	Somatic		Capture	Illumina HiSeq	Phase_I	82650487	NM_000307	B2RC71|Q5H9G9|Q99410	Nonsense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606010	0.66445	.	.	ENSG00000196767	ENST00000373200	.	.	.	5.31	2.36	0.29203	.	0.062132	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	10.1645	0.42871	0.4465:0.4433:0.1101:0.0	.	.	.	.	X	167	.	ENSP00000362296:R167X	R	+	1	2	POU3F4	82650487	0.759000	0.28416	0.987000	0.45799	0.488000	0.33401	0.811000	0.27198	0.525000	0.28522	-0.359000	0.07587	CGA		0.642	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
CYLC1	1538	broad.mit.edu	37	X	83128279	83128279	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:83128279C>A	ENST00000329312.4	+	4	600	c.563C>A	c.(562-564)tCt>tAt	p.S188Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	188					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S187Y(1)|p.S187F(1)|p.S188F(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCCCAAAATTCTAAGACAGTC	0.318																																					p.S188Y												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C563A	X						.						26.0	26.0	26.0					X																	83128279		2176	4256	6432	83014935	SO:0001583	missense	1538	exon4			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.563C>A	X.37:g.83128279C>A	ENSP00000331556:p.Ser188Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	83014935	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	7.979	0.750789	0.15778	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.60797	0.16	4.64	-2.34	0.06704	.	.	.	.	.	T	0.49830	0.1580	L	0.42245	1.32	0.09310	N	1	P;P	0.45634	0.863;0.863	P;P	0.47430	0.547;0.547	T	0.45011	-0.9290	9	0.59425	D	0.04	7.6586	5.0906	0.14706	0.156:0.2811:0.0:0.5629	.	188;188	P35663;F5H4V5	CYLC1_HUMAN;.	Y	188	ENSP00000331556:S188Y	ENSP00000331556:S188Y	S	+	2	0	CYLC1	83014935	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.551000	0.06027	-0.912000	0.03837	-0.322000	0.08575	TCT		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
RPS6KA6	27330	broad.mit.edu	37	X	83362045	83362045	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:83362045G>T	ENST00000262752.2	-	14	1122	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y	RPS6KA6_ENST00000495332.1_5'Flank|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S372Y	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	372	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S372Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CAAACCGGGAGAATCTAATGT	0.328																																					p.S372Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1115A	X						.						51.0	48.0	49.0					X																	83362045		2203	4298	6501	83248701	SO:0001583	missense	27330	exon14			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1115C>A	X.37:g.83362045G>T	ENSP00000262752:p.Ser372Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	83248701	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757710	0.69648	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.59906	0.23;0.23	4.74	4.74	0.60224	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.054014	0.85682	D	0.000000	D	0.83128	0.5187	H	0.95365	3.66	0.80722	D	1	D;P	0.89917	1.0;0.956	D;P	0.76071	0.987;0.905	D	0.89102	0.3490	10	0.87932	D	0	.	17.1977	0.86898	0.0:0.0:1.0:0.0	.	372;372	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Y	372	ENSP00000262752:S372Y;ENSP00000440830:S372Y	ENSP00000262752:S372Y	S	-	2	0	RPS6KA6	83248701	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.625000	0.83145	2.070000	0.61991	0.600000	0.82982	TCT		0.328	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
HDX	139324	broad.mit.edu	37	X	83588783	83588783	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:83588783G>T	ENST00000297977.5	-	8	1919	c.1808C>A	c.(1807-1809)tCt>tAt	p.S603Y	HDX_ENST00000506585.2_Missense_Mutation_p.S545Y|HDX_ENST00000373177.2_Missense_Mutation_p.S603Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	603						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S603Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATCCAAGAAAGAGTTTACTTG	0.249																																					p.S603Y	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1808A	X						.						56.0	53.0	54.0					X																	83588783		2189	4271	6460	83475439	SO:0001583	missense	139324	exon9			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1808C>A	X.37:g.83588783G>T	ENSP00000297977:p.Ser603Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	83475439	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572487	0.28092	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35048	1.36;1.33;1.36	4.79	3.91	0.45181	.	0.201368	0.44688	D	0.000437	T	0.38214	0.1032	L	0.32530	0.975	0.40253	D	0.978096	D	0.55385	0.971	P	0.52159	0.691	T	0.30966	-0.9960	10	0.87932	D	0	-11.7148	11.9644	0.53027	0.0:0.0:0.8262:0.1738	.	603	Q7Z353	HDX_HUMAN	Y	603;545;603	ENSP00000297977:S603Y;ENSP00000362272:S545Y;ENSP00000423670:S603Y	ENSP00000297977:S603Y	S	-	2	0	HDX	83475439	1.000000	0.71417	0.897000	0.35233	0.140000	0.21249	5.655000	0.67981	0.922000	0.37019	0.523000	0.50628	TCT		0.249	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
DACH2	117154	broad.mit.edu	37	X	85950050	85950050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:85950050G>T	ENST00000373125.4	+	5	799	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	DACH2_ENST00000510272.1_Missense_Mutation_p.D48Y|DACH2_ENST00000373131.1_Missense_Mutation_p.D254Y|DACH2_ENST00000508860.1_Missense_Mutation_p.D100Y	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	267					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D267Y(1)|p.D254Y(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGGATAAAGATAAGATGCA	0.438																																					p.D267Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G799T	X						.						59.0	51.0	54.0					X																	85950050		2203	4300	6503	85836706	SO:0001583	missense	117154	exon5			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.799G>T	X.37:g.85950050G>T	ENSP00000362217:p.Asp267Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	85836706	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	g	15.76	2.928862	0.52759	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83591	-1.74;-1.73	4.99	4.12	0.48240	.	0.354917	0.26366	N	0.024787	T	0.79902	0.4526	N	0.22421	0.69	0.38409	D	0.945886	D;P;P	0.58970	0.984;0.564;0.856	P;B;B	0.53861	0.736;0.321;0.328	T	0.79349	-0.1840	10	0.36615	T	0.2	.	12.3318	0.55043	0.0841:0.0:0.9159:0.0	.	133;254;267	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	Y	267;254;267;100;48;100	ENSP00000362223:D254Y;ENSP00000362217:D267Y	ENSP00000345134:D267Y	D	+	1	0	DACH2	85836706	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	6.506000	0.73712	0.884000	0.36064	0.509000	0.49947	GAT		0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
KLHL4	56062	broad.mit.edu	37	X	86887340	86887340	+	Silent	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:86887340C>T	ENST00000373119.4	+	7	1600	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	KLHL4_ENST00000373114.4_Silent_p.D485D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D485D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAGGAAGAGACGGTTTAAAAA	0.443																																					p.D485D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	X						.						122.0	104.0	110.0					X																	86887340		2203	4300	6503	86773996	SO:0001819	synonymous_variant	56062	exon7			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1455C>T	X.37:g.86887340C>T		Somatic		Capture	Illumina HiSeq	Phase_I	86773996	NM_057162	B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	CCDS14457.1																																																																																				0.443	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
KLHL4	56062	broad.mit.edu	37	X	86888768	86888768	+	Silent	SNP	A	A	G			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:86888768A>G	ENST00000373119.4	+	8	1714	c.1569A>G	c.(1567-1569)ggA>ggG	p.G523G	KLHL4_ENST00000373114.4_Silent_p.G523G	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	523						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G523G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTCTTGAAGGACCAATGTATG	0.403																																					p.G523G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1569G	X						.						107.0	89.0	95.0					X																	86888768		2203	4300	6503	86775424	SO:0001819	synonymous_variant	56062	exon8			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1569A>G	X.37:g.86888768A>G		Somatic		Capture	Illumina HiSeq	Phase_I	86775424	NM_057162	B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	CCDS14457.1																																																																																				0.403	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
KLHL4	56062	broad.mit.edu	37	X	86890682	86890682	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:86890682G>T	ENST00000373119.4	+	9	1977	c.1832G>T	c.(1831-1833)gGa>gTa	p.G611V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G611V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	611						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G611V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAGGTGTGGGAGTTGCCACA	0.478																																					p.G611V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1832T	X						.						126.0	105.0	112.0					X																	86890682		2203	4300	6503	86777338	SO:0001583	missense	56062	exon9			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1832G>T	X.37:g.86890682G>T	ENSP00000362211:p.Gly611Val	Somatic		Capture	Illumina HiSeq	Phase_I	86777338	NM_057162	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984759	0.74474	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.82344	-1.6;-1.6	4.23	4.23	0.50019	Galactose oxidase, beta-propeller (1);	0.126462	0.52532	D	0.000061	D	0.91640	0.7358	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.971;0.999	D;D	0.78314	0.946;0.991	D	0.93305	0.6680	10	0.87932	D	0	.	15.0663	0.71999	0.0:0.0:1.0:0.0	.	611;611	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	V	611	ENSP00000362211:G611V;ENSP00000362206:G611V	ENSP00000362206:G611V	G	+	2	0	KLHL4	86777338	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	8.893000	0.92498	2.086000	0.62901	0.513000	0.50165	GGA		0.478	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
CPXCR1	53336	broad.mit.edu	37	X	88008449	88008449	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:88008449G>A	ENST00000276127.4	+	3	293	c.34G>A	c.(34-36)Gct>Act	p.A12T	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A12T	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	12							metal ion binding (GO:0046872)	p.A12S(1)|p.A12T(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AAGTGATACAGCTGGAAATGC	0.353																																					p.A12T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G34A	X						.						27.0	24.0	25.0					X																	88008449		2202	4298	6500	87895105	SO:0001583	missense	53336	exon3			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.34G>A	X.37:g.88008449G>A	ENSP00000276127:p.Ala12Thr	Somatic		Capture	Illumina HiSeq	Phase_I	87895105	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	9.352	1.065804	0.20067	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.28666	1.6;1.6	3.28	-0.781	0.10965	.	0.972892	0.08355	N	0.958693	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.30090	-0.9990	9	.	.	.	.	2.6824	0.05098	0.2481:0.0:0.3627:0.3892	.	12	Q8N123	CPXCR_HUMAN	T	12	ENSP00000276127:A12T;ENSP00000362203:A12T	.	A	+	1	0	CPXCR1	87895105	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.535000	0.06142	-0.318000	0.08665	-0.198000	0.12761	GCT		0.353	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
CPXCR1	53336	broad.mit.edu	37	X	88008711	88008711	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:88008711A>C	ENST00000276127.4	+	3	555	c.296A>C	c.(295-297)aAa>aCa	p.K99T	CPXCR1_ENST00000373111.1_Missense_Mutation_p.K99T	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	99							metal ion binding (GO:0046872)	p.K99T(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATTCCCAGAAAATTGGTCTCT	0.408																																					p.K99T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A296C	X						.						36.0	32.0	33.0					X																	88008711		2203	4300	6503	87895367	SO:0001583	missense	53336	exon3			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.296A>C	X.37:g.88008711A>C	ENSP00000276127:p.Lys99Thr	Somatic		Capture	Illumina HiSeq	Phase_I	87895367	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458155	0.26161	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.30448	1.53;1.53	3.33	3.33	0.38152	.	0.000000	0.40144	N	0.001175	T	0.36717	0.0977	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.04781	-1.0927	9	.	.	.	-25.0197	7.3927	0.26919	1.0:0.0:0.0:0.0	.	99	Q8N123	CPXCR_HUMAN	T	99	ENSP00000276127:K99T;ENSP00000362203:K99T	.	K	+	2	0	CPXCR1	87895367	0.713000	0.27926	0.049000	0.19019	0.068000	0.16541	2.016000	0.40971	1.556000	0.49512	0.481000	0.45027	AAA		0.408	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
PABPC5	140886	broad.mit.edu	37	X	90691591	90691591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:90691591C>T	ENST00000312600.3	+	2	1229	c.1015C>T	c.(1015-1017)Caa>Taa	p.Q339*	PABPC5_ENST00000373105.1_Nonsense_Mutation_p.Q175*|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	339	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q339*(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGAAGTGGGGCAAGGCAAAGG	0.458																																					p.Q339X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1015T	X						.						67.0	65.0	66.0					X																	90691591		2202	4299	6501	90578247	SO:0001587	stop_gained	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1015C>T	X.37:g.90691591C>T	ENSP00000308012:p.Gln339*	Somatic		Capture	Illumina HiSeq	Phase_I	90578247	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Nonsense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405641	0.96051	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	.	.	.	4.14	4.14	0.48551	.	0.125201	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.362	0.60661	0.0:1.0:0.0:0.0	.	.	.	.	X	175;339;307	.	ENSP00000308012:Q339X	Q	+	1	0	PABPC5	90578247	0.984000	0.35163	0.997000	0.53966	0.970000	0.65996	3.418000	0.52721	2.318000	0.78349	0.529000	0.55759	CAA		0.458	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
PCDH11X	27328	broad.mit.edu	37	X	91132907	91132907	+	Silent	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:91132907C>A	ENST00000373094.1	+	2	2513	c.1668C>A	c.(1666-1668)gtC>gtA	p.V556V	PCDH11X_ENST00000406881.1_Silent_p.V556V|PCDH11X_ENST00000395337.2_Silent_p.V556V|PCDH11X_ENST00000504220.2_Silent_p.V556V|PCDH11X_ENST00000361724.1_Silent_p.V556V|PCDH11X_ENST00000361655.2_Silent_p.V556V|PCDH11X_ENST00000373088.1_Silent_p.V556V|PCDH11X_ENST00000373097.1_Silent_p.V556V|PCDH11X_ENST00000298274.8_Silent_p.V556V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V556V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGTCACAGTCTTTGTAAGCA	0.378																																					p.V556V	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1668A	X						.						79.0	76.0	77.0					X																	91132907		2202	4298	6500	91019563	SO:0001819	synonymous_variant	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1668C>A	X.37:g.91132907C>A		Somatic		Capture	Illumina HiSeq	Phase_I	91019563	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																				0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91133093	91133093	+	Silent	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:91133093T>C	ENST00000373094.1	+	2	2699	c.1854T>C	c.(1852-1854)atT>atC	p.I618I	PCDH11X_ENST00000406881.1_Silent_p.I618I|PCDH11X_ENST00000395337.2_Silent_p.I618I|PCDH11X_ENST00000504220.2_Silent_p.I618I|PCDH11X_ENST00000361724.1_Silent_p.I618I|PCDH11X_ENST00000361655.2_Silent_p.I618I|PCDH11X_ENST00000373088.1_Silent_p.I618I|PCDH11X_ENST00000373097.1_Silent_p.I618I|PCDH11X_ENST00000298274.8_Silent_p.I618I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I618I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTTCACCATTGATTCACAAA	0.383																																					p.I618I	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1854C	X						.						23.0	21.0	22.0					X																	91133093		2183	4264	6447	91019749	SO:0001819	synonymous_variant	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1854T>C	X.37:g.91133093T>C		Somatic		Capture	Illumina HiSeq	Phase_I	91019749	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																				0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91134136	91134136	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:91134136T>C	ENST00000373094.1	+	2	3742	c.2897T>C	c.(2896-2898)cTg>cCg	p.L966P	PCDH11X_ENST00000406881.1_Missense_Mutation_p.L966P|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L966P|PCDH11X_ENST00000504220.2_Missense_Mutation_p.L966P|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L966P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L966P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L966P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L966P|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L966P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	966					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L966P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAAGAACTGCCTCTCGAT	0.507																																					p.L966P	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2897C	X						.						263.0	211.0	229.0					X																	91134136		2203	4300	6503	91020792	SO:0001583	missense	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2897T>C	X.37:g.91134136T>C	ENSP00000362186:p.Leu966Pro	Somatic		Capture	Illumina HiSeq	Phase_I	91020792	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152806	0.38021	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.35	5.35	0.76521	Protocadherin (1);	0.072793	0.56097	N	0.000027	T	0.71626	0.3362	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.75605	-0.3260	10	0.87932	D	0	.	13.4537	0.61187	0.0:0.0:0.0:1.0	.	966;966;966;966;966;966;966;966	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	P	966	ENSP00000378746:L966P;ENSP00000362186:L966P;ENSP00000362189:L966P;ENSP00000355040:L966P;ENSP00000362180:L966P;ENSP00000423762:L966P;ENSP00000355105:L966P;ENSP00000384758:L966P;ENSP00000298274:L966P	ENSP00000298274:L966P	L	+	2	0	PCDH11X	91020792	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.411000	0.80078	1.771000	0.52183	0.486000	0.48141	CTG		0.507	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91873860	91873860	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:91873860C>A	ENST00000373094.1	+	7	4810	c.3965C>A	c.(3964-3966)cCt>cAt	p.P1322H	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1314H|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1304H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1285H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1312H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1285H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1322					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1322H(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGTCATTCCTTTGACAACC	0.433																																					p.P1322H	NSCLC(38;925 1092 2571 38200 45895)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3965A	X						.						162.0	149.0	154.0					X																	91873860		2203	4300	6503	91760516	SO:0001583	missense	27328	exon7			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3965C>A	X.37:g.91873860C>A	ENSP00000362186:p.Pro1322His	Somatic		Capture	Illumina HiSeq	Phase_I	91760516	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504994	0.44558	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.64438	0.02;0.02;-0.1;-0.04;-0.03;-0.1	4.57	4.57	0.56435	.	.	.	.	.	T	0.65606	0.2707	N	0.24115	0.695	0.32388	N	0.553584	D;D;D;D;D	0.65815	0.995;0.995;0.995;0.995;0.992	P;P;P;P;P	0.60473	0.875;0.875;0.875;0.875;0.754	T	0.74355	-0.3692	9	0.87932	D	0	.	15.5148	0.75815	0.0:1.0:0.0:0.0	.	1285;1304;1314;1312;1322	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	H	1322;1312;1285;1304;1314;1322;1285	ENSP00000362186:P1322H;ENSP00000362189:P1312H;ENSP00000362180:P1285H;ENSP00000355105:P1304H;ENSP00000384758:P1314H;ENSP00000298274:P1285H	ENSP00000298274:P1285H	P	+	2	0	PCDH11X	91760516	0.982000	0.34865	0.732000	0.30844	0.516000	0.34256	2.667000	0.46808	1.845000	0.53610	0.459000	0.35465	CCT		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
FAM133A	286499	broad.mit.edu	37	X	92964645	92964645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:92964645G>A	ENST00000355813.5	+	4	753	c.227G>A	c.(226-228)aGc>aAc	p.S76N	FAM133A_ENST00000538690.1_Missense_Mutation_p.S76N|FAM133A_ENST00000322139.4_Missense_Mutation_p.S76N|FAM133A_ENST00000332647.4_Missense_Mutation_p.S76N	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	76	Lys-rich.							p.S76N(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CTTGAAAAAAGCAGAGAGAAA	0.284																																					p.S76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	X						.						25.0	27.0	26.0					X																	92964645		2167	4252	6419	92851301	SO:0001583	missense	286499	exon5			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.227G>A	X.37:g.92964645G>A	ENSP00000348067:p.Ser76Asn	Somatic		Capture	Illumina HiSeq	Phase_I	92851301	NM_001171110		Missense_Mutation	SNP	ENST00000355813.5	37	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	8.783	0.928683	0.18131	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.29	1.45	0.22620	.	0.269904	0.40818	N	0.001001	T	0.11495	0.0280	N	0.01464	-0.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.06757	T	0.87	-0.1537	4.5337	0.12017	0.3302:0.0:0.6698:0.0	.	76	Q8N9E0	F133A_HUMAN	N	76	ENSP00000441389:S76N;ENSP00000348067:S76N;ENSP00000318974:S76N;ENSP00000362169:S76N	ENSP00000318974:S76N	S	+	2	0	FAM133A	92851301	1.000000	0.71417	0.109000	0.21407	0.995000	0.86356	1.529000	0.35996	0.249000	0.21456	0.597000	0.82753	AGC		0.284	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698	
NXF5	55998	broad.mit.edu	37	X	101091712	101091712	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:101091712T>C	ENST00000361708.2	-	16	1533	c.1174A>G	c.(1174-1176)Att>Gtt	p.I392V	NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	392					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I392V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TAACCTGGAATTGCGGCCAGA	0.517																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	X						.						241.0	170.0	194.0					X																	101091712		2203	4300	6503	100978368	SO:0001583	missense	55998	.			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.1174A>G	X.37:g.101091712T>C	ENSP00000355286:p.Ile392Val	Somatic		Capture	Illumina HiSeq	Phase_I	100978368	.	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	0.020	-1.444146	0.01089	.	.	ENSG00000126952	ENST00000361708	T	0.44881	0.91	2.13	-4.25	0.03766	.	0.517876	0.18517	U	0.138864	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	7	0.02654	T	1	.	4.906	0.13799	0.0:0.4134:0.17:0.4166	.	.	.	.	V	392	ENSP00000355286:I392V	ENSP00000263032:I392V	I	-	1	0	NXF5	100978368	0.011000	0.17503	0.000000	0.03702	0.030000	0.12068	-0.188000	0.09642	-1.876000	0.01131	-0.826000	0.03091	ATT		0.517	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
FRMPD3	84443	broad.mit.edu	37	X	106843527	106843527	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:106843527C>A	ENST00000276185.4	+	16	2362							Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3							cytoskeleton (GO:0005856)		p.?(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATCCCTGTTCCTCCAGGTCTG	0.488																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						28.0	24.0	25.0					X																	106843527		876	1991	2867	106730183	SO:0001627	intron_variant	0	.			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2363-6C>A	X.37:g.106843527C>A		Somatic		Capture	Illumina HiSeq	Phase_I	106730183	.	Q96JK8	IGR	SNP	ENST00000276185.4	37																																																																																					0.488	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978	
NCBP2L	392517	broad.mit.edu	37	X	107037454	107037454	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:107037454T>C	ENST00000509000.2	+	2	202	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P	NCBP2L_ENST00000372379.2_Missense_Mutation_p.S2P			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like	2					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)	p.S290P(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CAGCACCATGTCCAAAGACCT	0.488																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	X						.						37.0	33.0	35.0					X																	107037454		876	1991	2867	106924110	SO:0001583	missense	0	.					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169	ENST00000509000.2:c.4T>C	X.37:g.107037454T>C	ENSP00000476955:p.Ser2Pro	Somatic		Capture	Illumina HiSeq	Phase_I	106924110	.		IGR	SNP	ENST00000509000.2	37		.	.	.	.	.	.	.	.	.	.	T	13.12	2.143222	0.37825	.	.	ENSG00000170935	ENST00000372379	.	.	.	4.78	0.944	0.19537	.	0.796683	0.11447	N	0.563149	T	0.33147	0.0853	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26815	-1.0092	6	0.33940	T	0.23	-1.9006	6.1698	0.20410	0.0:0.4066:0.0:0.5934	.	.	.	.	P	2	.	ENSP00000361454:S2P	S	+	1	0	NCBP2L	106924110	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	0.645000	0.24782	-0.023000	0.13963	-0.438000	0.05819	TCC		0.488	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362	
GUCY2F	2986	broad.mit.edu	37	X	108625344	108625344	+	Intron	SNP	T	T	C			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:108625344T>C	ENST00000218006.2	-	17	3442					NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal						intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGACATTATACCTTGAGCT	0.443																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						151.0	146.0	148.0					X																	108625344		2203	4300	6503	108512000	SO:0001627	intron_variant	2986	.			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3150+2A>G	X.37:g.108625344T>C		Somatic		Capture	Illumina HiSeq	Phase_I	108512000	.	Q9UJF1	Intron	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.443	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
UPF3B	65109	broad.mit.edu	37	X	118975229	118975229	+	Intron	SNP	G	G	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:118975229G>T	ENST00000276201.2	-	7	694				UPF3B_ENST00000478840.1_Intron|UPF3B_ENST00000345865.2_Intron	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTCTAGAAAGAAACATCAAC	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	X						.						115.0	116.0	116.0					X																	118975229		2200	4300	6500	118859257	SO:0001627	intron_variant	65109	.			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.625-8C>A	X.37:g.118975229G>T		Somatic		Capture	Illumina HiSeq	Phase_I	118859257	.	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Intron	SNP	ENST00000276201.2	37	CCDS14588.1																																																																																				0.363	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
FGF13	2258	broad.mit.edu	37	X	137785135	137785135	+	Intron	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:137785135C>T	ENST00000315930.6	-	3	1064				FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000541469.1_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13						cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCACACAGTCAAAAGCTTAC	0.403																																					.												.	.	0			.	X						.						107.0	89.0	95.0					X																	137785135		2203	4300	6503	137612801	SO:0001627	intron_variant	2258	.			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.402+10G>A	X.37:g.137785135C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137612801	.	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Intron	SNP	ENST00000315930.6	37	CCDS14665.1																																																																																				0.403	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
MIR508	574513	broad.mit.edu	37	X	146318448	146318448	+	RNA	SNP	C	C	T			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:146318448C>T	ENST00000384857.1	-	0	97					NR_030235.1				microRNA 508																		ATATGCGTTACGTGATGTGTA	0.517													C|||	1	0.000264901	0.0	0.0	3775	,	,		14213	0.0		0.001	False		,,,				2504	0.0				.												.	.	0			.	X						.						94.0	71.0	78.0					X																	146318448		1568	3582	5150	146126140			0	.					Xq27.3	2011-09-12		2008-12-18	ENSG00000207589	ENSG00000207589		"""ncRNAs / Micro RNAs"""	32145	non-coding RNA	RNA, micro		300874		MIRN508			Standard	NR_030235		Approved	hsa-mir-508	uc022cfw.1				X.37:g.146318448C>T		Somatic		Capture	Illumina HiSeq	Phase_I	146126140	.		IGR	SNP	ENST00000384857.1	37																																																																																					0.517	MIR508-201	KNOWN	basic	miRNA	miRNA		NR_030235	
AFF2	2334	broad.mit.edu	37	X	147924898	147924898	+	Intron	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:147924898C>A	ENST00000370460.2	+	7	1689				AFF2_ENST00000342251.3_Intron|AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000370458.1_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.?(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATATCTTTTCTTTTCAGAGT	0.388																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	X						.						113.0	98.0	103.0					X																	147924898		2203	4300	6503	147732590	SO:0001627	intron_variant	2334	.			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1211-8C>A	X.37:g.147924898C>A		Somatic		Capture	Illumina HiSeq	Phase_I	147732590	.	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Intron	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.388	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
ATP2B3	492	broad.mit.edu	37	X	152845768	152845768	+	3'UTR	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:152845768C>A	ENST00000349466.2	+	0	4001				ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000263519.4_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3						blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGAACTTGTCTCAGcacatg	0.567																																					.												.	.	0			.	X						.						85.0	70.0	75.0					X																	152845768		2203	4300	6503	152498962	SO:0001624	3_prime_UTR_variant	492	.			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.*12C>A	X.37:g.152845768C>A		Somatic		Capture	Illumina HiSeq	Phase_I	152498962	.	B7WNR8|B7WNY5|Q12995|Q16858	3'UTR	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																				0.567	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
F8	2157	broad.mit.edu	37	X	154215561	154215561	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chrX:154215561C>A	ENST00000360256.4	-	5	821	c.621G>T	c.(619-621)aaG>aaT	p.K207N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	207	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.K207N(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGTCTGTGTCTTTTCCTTGG	0.353																																					p.K207N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G621T	X						.						74.0	64.0	67.0					X																	154215561		2203	4299	6502	153868755	SO:0001583	missense	2157	exon5			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.621G>T	X.37:g.154215561C>A	ENSP00000353393:p.Lys207Asn	Somatic		Capture	Illumina HiSeq	Phase_I	153868755	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	8.949	0.967677	0.18659	.	.	ENSG00000185010	ENST00000360256;ENST00000423959	D;D	0.98701	-5.08;-5.08	4.9	-0.243	0.13035	Cupredoxin (2);	0.318061	0.37348	N	0.002122	D	0.93851	0.8033	N	0.17838	0.53	0.09310	N	1	B	0.26195	0.144	B	0.20577	0.03	D	0.88074	0.2802	10	0.42905	T	0.14	-0.6215	4.8746	0.13650	0.0:0.5128:0.1468:0.3404	.	207	P00451	FA8_HUMAN	N	207;172	ENSP00000353393:K207N;ENSP00000409446:K172N	ENSP00000353393:K207N	K	-	3	2	F8	153868755	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	-0.503000	0.06383	-0.469000	0.06911	0.462000	0.41574	AAG		0.353	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
